#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
DVL1	1855	broad.mit.edu	37	1	1284316	1284316	+	Missense_Mutation	SNP	C	C	A			TCGA-22-4595-01A-01D-1267-08	TCGA-22-4595-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7fcf5123-2d1b-4666-9d39-a1aaf63cf954	850e8a4d-e0f6-4bd6-80f5-1c20e2b0e4f9	g.chr1:1284316C>A	ENST00000378888.5	-	1	414	c.130G>T	c.(130-132)Gcc>Tcc	p.A44S	DVL1_ENST00000378891.5_Missense_Mutation_p.A44S			O14640	DVL1_HUMAN	dishevelled segment polarity protein 1	44	DIX. {ECO:0000255|PROSITE- ProRule:PRU00069}.				axon extension (GO:0048675)|axon guidance (GO:0007411)|canonical Wnt signaling pathway (GO:0060070)|cochlea morphogenesis (GO:0090103)|collateral sprouting (GO:0048668)|convergent extension (GO:0060026)|convergent extension involved in neural plate elongation (GO:0022007)|cytoplasmic microtubule organization (GO:0031122)|dendrite morphogenesis (GO:0048813)|intracellular signal transduction (GO:0035556)|negative regulation of protein binding (GO:0032091)|negative regulation of protein kinase activity (GO:0006469)|neural tube development (GO:0021915)|neuromuscular junction development (GO:0007528)|neurotransmitter secretion (GO:0007269)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of neuron projection development (GO:0010976)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of Wnt signaling pathway (GO:0030177)|prepulse inhibition (GO:0060134)|protein localization to microtubule (GO:0035372)|protein localization to nucleus (GO:0034504)|receptor clustering (GO:0043113)|regulation of neurotransmitter levels (GO:0001505)|skeletal muscle acetylcholine-gated channel clustering (GO:0071340)|social behavior (GO:0035176)|synapse organization (GO:0050808)|transcription from RNA polymerase II promoter (GO:0006366)|Wnt signaling pathway, planar cell polarity pathway (GO:0060071)	axon (GO:0030424)|cell cortex (GO:0005938)|clathrin-coated vesicle (GO:0030136)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytoplasmic vesicle (GO:0031410)|dendrite (GO:0030425)|growth cone (GO:0030426)|microtubule (GO:0005874)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|synapse (GO:0045202)	enzyme binding (GO:0019899)|frizzled binding (GO:0005109)|identical protein binding (GO:0042802)|protein kinase binding (GO:0019901)|Rac GTPase binding (GO:0048365)	p.A44S(1)		endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	13	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;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		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)		AATTTGTAGGCGTGCACGGGC	0.682																																						uc001aer.3																			1	Substitution - Missense(1)		lung(1)		0						c.(130-132)GCC>TCC		dishevelled 1							45.0	45.0	45.0					1																	1284316		2183	4292	6475	SO:0001583	missense	1855				canonical Wnt receptor signaling pathway|dendrite morphogenesis|intracellular signal transduction|negative regulation of protein binding|negative regulation of protein kinase activity|neural tube development|neuromuscular junction development|neurotransmitter secretion|positive regulation of transcription, DNA-dependent|positive regulation of Wnt receptor signaling pathway|protein localization to nucleus|receptor clustering|transcription from RNA polymerase II promoter|Wnt receptor signaling pathway, planar cell polarity pathway	cytoplasmic membrane-bounded vesicle|cytosol|plasma membrane|synapse|synaptosome	frizzled binding|identical protein binding|protein kinase binding|signal transducer activity	g.chr1:1284316C>A	AF006011	CCDS22.1	1p36	2013-05-22	2013-05-22		ENSG00000107404	ENSG00000107404		"""Dishevelled homologs"""	3084	protein-coding gene	gene with protein product		601365	"""dishevelled 1 (homologous to Drosophila dsh)"", ""dishevelled, dsh homolog 1 (Drosophila)"""			8817329	Standard	NM_004421		Approved		uc001aer.4	O14640	OTTHUMG00000003069	ENST00000378888.5:c.130G>T	1.37:g.1284316C>A	ENSP00000368166:p.Ala44Ser						p.A44S	NM_004421	NP_004412	O14640	DVL1_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)	1	177	-	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;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)	44			DIX.		Q5TA33|Q5TA35	Missense_Mutation	SNP	ENST00000378888.5	37	c.130G>T		.	.	.	.	.	.	.	.	.	.	c	13.12	2.141321	0.37825	.	.	ENSG00000107404	ENST00000378891;ENST00000378888;ENST00000345100	T;T	0.40225	1.04;1.04	3.63	-3.21	0.05140	.	0.344593	0.29594	U	0.011705	T	0.07279	0.0184	N	0.00321	-1.65	0.23298	N	0.997954	B	0.02656	0.0	B	0.01281	0.0	T	0.32161	-0.9917	10	0.22706	T	0.39	.	0.2229	0.00170	0.3166:0.2053:0.1407:0.3374	.	44	O14640-2	.	S	44	ENSP00000368169:A44S;ENSP00000368166:A44S	ENSP00000340031:A44S	A	-	1	0	DVL1	1274179	0.999000	0.42202	0.992000	0.48379	0.017000	0.09413	0.994000	0.29693	-0.204000	0.10235	-0.370000	0.07254	GCC		PASS	0.682	DVL1-004	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000008490.1	NM_004421		6	45	6	45	---	---	---	---
VWA1	64856	broad.mit.edu	37	1	1372497	1372497	+	Silent	SNP	C	C	T	rs560253516		TCGA-22-4595-01A-01D-1267-08	TCGA-22-4595-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7fcf5123-2d1b-4666-9d39-a1aaf63cf954	850e8a4d-e0f6-4bd6-80f5-1c20e2b0e4f9	g.chr1:1372497C>T	ENST00000476993.1	+	2	342	c.264C>T	c.(262-264)ttC>ttT	p.F88F	RP4-758J18.10_ENST00000417917.1_lincRNA|VWA1_ENST00000404702.3_Intron|VWA1_ENST00000338660.5_Intron	NM_022834.4	NP_073745.2	Q6PCB0	VWA1_HUMAN	von Willebrand factor A domain containing 1	88	VWFA. {ECO:0000255|PROSITE- ProRule:PRU00219}.				behavioral response to pain (GO:0048266)|extracellular matrix organization (GO:0030198)	basement membrane (GO:0005604)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|interstitial matrix (GO:0005614)		p.F88F(1)		NS(1)|breast(1)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	8	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;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;1.79e-36)|OV - Ovarian serous cystadenocarcinoma(86;3.94e-22)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145)		AGTTCCCCTTCGGCCAGCACA	0.682													c|||	1	0.000199681	0.0008	0.0	5008	,	,		17157	0.0		0.0	False		,,,				2504	0.0					uc001afs.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(262-264)TTC>TTT		von Willebrand factor A domain containing 1							33.0	27.0	29.0					1																	1372497		2197	4289	6486	SO:0001819	synonymous_variant	64856					basement membrane		g.chr1:1372497C>T	BC059409	CCDS27.1, CCDS28.1, CCDS28.2	1p36.33	2013-02-11			ENSG00000179403	ENSG00000179403		"""Fibronectin type III domain containing"""	30910	protein-coding gene	gene with protein product		611901				14527666, 12062410	Standard	NM_022834		Approved	FLJ22215, VWA-1, WARP	uc001afs.3	Q6PCB0	OTTHUMG00000002975	ENST00000476993.1:c.264C>T	1.37:g.1372497C>T						VWA1_uc001afr.2_Intron	p.F88F	NM_022834	NP_073745	Q6PCB0	VWA1_HUMAN		Epithelial(90;1.79e-36)|OV - Ovarian serous cystadenocarcinoma(86;3.94e-22)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145)	2	484	+	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;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)	88			VWFA.		A8K692|B3KUA1|E9PB53|Q7L5D7|Q9H6J5	Silent	SNP	ENST00000476993.1	37	c.264C>T	CCDS27.1																																																																																				PASS	0.682	VWA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008291.1	NM_022834		9	33	9	33	---	---	---	---
RERE	473	broad.mit.edu	37	1	8525994	8525994	+	Silent	SNP	C	C	T			TCGA-22-4595-01A-01D-1267-08	TCGA-22-4595-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7fcf5123-2d1b-4666-9d39-a1aaf63cf954	850e8a4d-e0f6-4bd6-80f5-1c20e2b0e4f9	g.chr1:8525994C>T	ENST00000337907.3	-	12	1828	c.1194G>A	c.(1192-1194)gaG>gaA	p.E398E	RERE_ENST00000400908.2_Silent_p.E398E|RERE_ENST00000400907.2_Silent_p.E398E|RERE_ENST00000377464.1_Silent_p.E130E	NM_012102.3	NP_036234.3	Q9P2R6	RERE_HUMAN	arginine-glutamic acid dipeptide (RE) repeats	398	SANT. {ECO:0000255|PROSITE- ProRule:PRU00624}.				chromatin remodeling (GO:0006338)|multicellular organismal development (GO:0007275)|NLS-bearing protein import into nucleus (GO:0006607)|transcription, DNA-templated (GO:0006351)	histone deacetylase complex (GO:0000118)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|poly-glutamine tract binding (GO:0008267)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)	p.E398E(1)		central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(16)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	49	Ovarian(185;0.0661)	all_epithelial(116;1.17e-21)|all_lung(118;1.4e-06)|Lung NSC(185;3.06e-06)|Renal(390;0.000147)|Breast(348;0.000206)|Colorectal(325;0.00187)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;9.64e-67)|GBM - Glioblastoma multiforme(8;9.89e-33)|Colorectal(212;1.45e-07)|COAD - Colon adenocarcinoma(227;3.42e-05)|Kidney(185;6e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000533)|KIRC - Kidney renal clear cell carcinoma(229;0.00106)|STAD - Stomach adenocarcinoma(132;0.00118)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.195)		CCACTTCGTCCTCGGTCCAGC	0.582																																						uc001ape.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.(1192-1194)GAG>GAA		atrophin-1 like protein isoform a							101.0	77.0	85.0					1																	8525994		2203	4300	6503	SO:0001819	synonymous_variant	473				multicellular organismal development|NLS-bearing substrate import into nucleus	mitochondrion	poly-glutamine tract binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr1:8525994C>T	AF016005	CCDS95.1, CCDS41243.1	1p36.23	2013-01-25			ENSG00000142599	ENSG00000142599		"""GATA zinc finger domain containing"""	9965	protein-coding gene	gene with protein product		605226		ATN1L		10814707, 10729226	Standard	NM_012102		Approved	KIAA0458, ARP, ARG, DNB1	uc001apf.3	Q9P2R6	OTTHUMG00000001765	ENST00000337907.3:c.1194G>A	1.37:g.8525994C>T						RERE_uc001apf.2_Silent_p.E398E|RERE_uc010nzx.1_Silent_p.E130E|RERE_uc001aph.1_Silent_p.E398E	p.E398E	NM_012102	NP_036234	Q9P2R6	RERE_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;9.64e-67)|GBM - Glioblastoma multiforme(8;9.89e-33)|Colorectal(212;1.45e-07)|COAD - Colon adenocarcinoma(227;3.42e-05)|Kidney(185;6e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000533)|KIRC - Kidney renal clear cell carcinoma(229;0.00106)|STAD - Stomach adenocarcinoma(132;0.00118)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.195)	12	2004	-	Ovarian(185;0.0661)	all_epithelial(116;1.17e-21)|all_lung(118;1.4e-06)|Lung NSC(185;3.06e-06)|Renal(390;0.000147)|Breast(348;0.000206)|Colorectal(325;0.00187)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)	398			SANT.		O43393|O75046|O75359|Q5VXL9|Q6P6B9|Q9Y2W4	Silent	SNP	ENST00000337907.3	37	c.1194G>A	CCDS95.1																																																																																				PASS	0.582	RERE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000004916.1			22	98	22	98	---	---	---	---
UBE4B	10277	broad.mit.edu	37	1	10207138	10207138	+	Missense_Mutation	SNP	G	G	A	rs147329205		TCGA-22-4595-01A-01D-1267-08	TCGA-22-4595-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7fcf5123-2d1b-4666-9d39-a1aaf63cf954	850e8a4d-e0f6-4bd6-80f5-1c20e2b0e4f9	g.chr1:10207138G>A	ENST00000253251.8	+	18	3033	c.2194G>A	c.(2194-2196)Gca>Aca	p.A732T	UBE4B_ENST00000377157.3_Missense_Mutation_p.A616T|UBE4B_ENST00000343090.6_Missense_Mutation_p.A861T					ubiquitination factor E4B									p.A732T(1)|p.A861T(1)		NS(3)|breast(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(14)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	48		all_lung(284;1.13e-05)|Lung NSC(185;1.74e-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;0.0268)|Colorectal(212;1.42e-07)|COAD - Colon adenocarcinoma(227;2.77e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000435)|Kidney(185;0.000482)|KIRC - Kidney renal clear cell carcinoma(229;0.00164)|STAD - Stomach adenocarcinoma(132;0.0117)|READ - Rectum adenocarcinoma(331;0.046)		CCTGGACCCCGCATATCCCGA	0.493																																						uc001aqs.3																			2	Substitution - Missense(2)		lung(2)	ovary(2)|skin(2)	4						c.(2581-2583)GCA>ACA		ubiquitination factor E4B isoform 1							178.0	169.0	172.0					1																	10207138		2203	4300	6503	SO:0001583	missense	10277				apoptosis|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to UV	cytoplasm|ubiquitin ligase complex	enzyme binding	g.chr1:10207138G>A	AF091093	CCDS110.1, CCDS41245.1	1p36.1	2013-01-28	2011-05-19		ENSG00000130939	ENSG00000130939		"""U-box domain containing"""	12500	protein-coding gene	gene with protein product		613565	"""ubiquitination factor E4B (homologous to yeast UFD2)"", ""ubiquitination factor E4B (UFD2 homolog, yeast)"""			9734811, 10089879	Standard	NM_006048		Approved	UBOX3, E4, UFD2, KIAA0684	uc001aqs.4	O95155	OTTHUMG00000001797	ENST00000253251.8:c.2194G>A	1.37:g.10207138G>A	ENSP00000253251:p.Ala732Thr					UBE4B_uc001aqr.3_Missense_Mutation_p.A732T|UBE4B_uc010oai.1_RNA|UBE4B_uc010oaj.1_Missense_Mutation_p.A316T|UBE4B_uc001aqt.1_Missense_Mutation_p.A201T	p.A861T	NM_001105562	NP_001099032	O95155	UBE4B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0268)|Colorectal(212;1.42e-07)|COAD - Colon adenocarcinoma(227;2.77e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000435)|Kidney(185;0.000482)|KIRC - Kidney renal clear cell carcinoma(229;0.00164)|STAD - Stomach adenocarcinoma(132;0.0117)|READ - Rectum adenocarcinoma(331;0.046)	19	3294	+		all_lung(284;1.13e-05)|Lung NSC(185;1.74e-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)	861						Missense_Mutation	SNP	ENST00000253251.8	37	c.2581G>A	CCDS110.1	.	.	.	.	.	.	.	.	.	.	G	16.75	3.208293	0.58343	.	.	ENSG00000130939	ENST00000253251;ENST00000377157;ENST00000343090	T;T;T	0.42513	0.97;0.97;0.97	5.68	5.68	0.88126	Ubiquitin conjugation factor E4, core (1);	0.051667	0.85682	D	0.000000	T	0.19127	0.0459	N	0.03324	-0.35	0.54753	D	0.999987	B;B;B	0.30439	0.017;0.279;0.014	B;B;B	0.19391	0.005;0.025;0.003	T	0.17531	-1.0366	10	0.14252	T	0.57	-17.6257	14.6722	0.68953	0.0:0.0:0.8548:0.1452	.	732;861;732	A8K8S9;O95155;O95155-2	.;UBE4B_HUMAN;.	T	732;616;861	ENSP00000253251:A732T;ENSP00000366362:A616T;ENSP00000343001:A861T	ENSP00000253251:A732T	A	+	1	0	UBE4B	10129725	1.000000	0.71417	0.999000	0.59377	0.990000	0.78478	6.270000	0.72563	2.700000	0.92200	0.558000	0.71614	GCA		PASS	0.493	UBE4B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005017.1	NM_006048		8	612	8	612	---	---	---	---
KIF1B	23095	broad.mit.edu	37	1	10328223	10328223	+	Missense_Mutation	SNP	A	A	G			TCGA-22-4595-01A-01D-1267-08	TCGA-22-4595-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7fcf5123-2d1b-4666-9d39-a1aaf63cf954	850e8a4d-e0f6-4bd6-80f5-1c20e2b0e4f9	g.chr1:10328223A>G	ENST00000377086.1	+	7	824	c.622A>G	c.(622-624)Aca>Gca	p.T208A	KIF1B_ENST00000377081.1_Missense_Mutation_p.T208A|KIF1B_ENST00000377083.1_Missense_Mutation_p.T208A|KIF1B_ENST00000263934.6_Missense_Mutation_p.T208A|KIF1B_ENST00000377093.4_Missense_Mutation_p.T208A			O60333	KIF1B_HUMAN	kinesin family member 1B	208	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				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.T208A(2)		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)		AGTGGCAGCTACAAACATGAA	0.423																																						uc001aqx.3																			2	Substitution - Missense(2)		lung(2)	ovary(2)|upper_aerodigestive_tract(1)	3						c.(622-624)ACA>GCA		kinesin family member 1B isoform b							88.0	72.0	77.0					1																	10328223		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.chr1:10328223A>G	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.622A>G	1.37:g.10328223A>G	ENSP00000366290:p.Thr208Ala					KIF1B_uc001aqv.3_Missense_Mutation_p.T208A|KIF1B_uc001aqw.3_Missense_Mutation_p.T208A|KIF1B_uc001aqy.2_Missense_Mutation_p.T208A|KIF1B_uc001aqz.2_Missense_Mutation_p.T208A|KIF1B_uc001ara.2_Missense_Mutation_p.T208A|KIF1B_uc001arb.2_Missense_Mutation_p.T208A|KIF1B_uc009vmt.2_RNA	p.T208A	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)	7	824	+	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)	208			Kinesin-motor.		A6NFS8|A6NKQ4|Q4VXC3|Q4VXC4|Q4VXC5|Q4VXC6|Q96Q94|Q9BV80|Q9P280	Missense_Mutation	SNP	ENST00000377086.1	37	c.622A>G		.	.	.	.	.	.	.	.	.	.	A	31	5.091901	0.94149	.	.	ENSG00000054523	ENST00000355249;ENST00000263934;ENST00000377093;ENST00000377086;ENST00000377083;ENST00000377081	T;T;T;T;T	0.80909	-1.43;-1.43;-1.43;-1.43;-1.43	5.94	5.94	0.96194	Kinesin, motor domain (5);	0.000000	0.85682	D	0.000000	D	0.94456	0.8216	H	0.99130	4.44	0.80722	D	1	D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;0.988;1.0	D;D;D;D;D;D;D	0.97110	0.999;0.999;0.999;0.999;1.0;0.971;1.0	D	0.96798	0.9587	10	0.87932	D	0	.	16.4075	0.83691	1.0:0.0:0.0:0.0	.	208;208;208;208;208;208;208	Q4R9M9;Q4R9M7;Q4VXC4;Q4R9M8;O60333;O60333-2;O60333-3	.;.;.;.;KIF1B_HUMAN;.;.	A	208	ENSP00000263934:T208A;ENSP00000366297:T208A;ENSP00000366290:T208A;ENSP00000366287:T208A;ENSP00000366284:T208A	ENSP00000263934:T208A	T	+	1	0	KIF1B	10250810	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	9.339000	0.96797	2.275000	0.75901	0.528000	0.53228	ACA		PASS	0.423	KIF1B-001	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000005102.1			3	30	3	30	---	---	---	---
CELA2A	63036	broad.mit.edu	37	1	15788132	15788132	+	Missense_Mutation	SNP	T	T	A			TCGA-22-4595-01A-01D-1267-08	TCGA-22-4595-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7fcf5123-2d1b-4666-9d39-a1aaf63cf954	850e8a4d-e0f6-4bd6-80f5-1c20e2b0e4f9	g.chr1:15788132T>A	ENST00000359621.4	+	3	231	c.206T>A	c.(205-207)cTg>cAg	p.L69Q		NM_033440.2	NP_254275.1	P08217	CEL2A_HUMAN	chymotrypsin-like elastase family, member 2A	69	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.					extracellular region (GO:0005576)|keratohyalin granule (GO:0036457)	serine hydrolase activity (GO:0017171)|serine-type endopeptidase activity (GO:0004252)	p.L69Q(1)		central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(7)|ovary(2)|prostate(1)	16						AGCTGGGTCCTGACGGCTGCC	0.602																																						uc001awk.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(205-207)CTG>CAG		elastase 2A preproprotein							115.0	99.0	105.0					1																	15788132		2203	4300	6503	SO:0001583	missense	63036				proteolysis	extracellular region	serine-type endopeptidase activity	g.chr1:15788132T>A		CCDS157.1	1p36.21	2009-07-09			ENSG00000142615	ENSG00000142615	3.4.21.71		24609	protein-coding gene	gene with protein product	"""elastase 2A"""	609443				3646943, 2834346	Standard	NM_033440		Approved	ELA2A	uc001awk.3	P08217	OTTHUMG00000002258	ENST00000359621.4:c.206T>A	1.37:g.15788132T>A	ENSP00000352639:p.Leu69Gln						p.L69Q	NM_033440	NP_254275	P08217	CEL2A_HUMAN			3	232	+			69			Peptidase S1.		B2R5I4|Q14243	Missense_Mutation	SNP	ENST00000359621.4	37	c.206T>A	CCDS157.1	.	.	.	.	.	.	.	.	.	.	T	15.12	2.739401	0.49045	.	.	ENSG00000142615	ENST00000375924;ENST00000359621	D	0.97906	-4.6	4.26	3.09	0.35607	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.151359	0.29239	U	0.012728	D	0.98902	0.9628	H	0.95043	3.615	0.45867	D	0.998727	D	0.89917	1.0	D	0.91635	0.999	D	0.98635	1.0673	10	0.87932	D	0	.	9.7223	0.40311	0.0:0.0:0.1753:0.8247	.	69	P08217	CEL2A_HUMAN	Q	69	ENSP00000352639:L69Q	ENSP00000352639:L69Q	L	+	2	0	CELA2A	15660719	1.000000	0.71417	0.802000	0.32245	0.320000	0.28249	5.900000	0.69853	0.485000	0.27652	0.241000	0.17934	CTG		PASS	0.602	CELA2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006445.1	NM_033440		46	138	46	138	---	---	---	---
HSPB7	27129	broad.mit.edu	37	1	16342218	16342218	+	Missense_Mutation	SNP	G	G	C			TCGA-22-4595-01A-01D-1267-08	TCGA-22-4595-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7fcf5123-2d1b-4666-9d39-a1aaf63cf954	850e8a4d-e0f6-4bd6-80f5-1c20e2b0e4f9	g.chr1:16342218G>C	ENST00000311890.9	-	3	1196	c.370C>G	c.(370-372)Cac>Gac	p.H124D	HSPB7_ENST00000375718.4_Missense_Mutation_p.H199D|HSPB7_ENST00000487046.1_Missense_Mutation_p.H129D|HSPB7_ENST00000406363.2_Missense_Mutation_p.H128D|HSPB7_ENST00000411503.1_Missense_Mutation_p.H119D	NM_014424.4	NP_055239.1	Q9UBY9	HSPB7_HUMAN	heat shock 27kDa protein family, member 7 (cardiovascular)	124					regulation of heart contraction (GO:0008016)|response to unfolded protein (GO:0006986)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	protein C-terminus binding (GO:0008022)	p.H124D(1)		breast(1)|large_intestine(1)|liver(1)|lung(6)|skin(1)	10		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;8.21e-08)|COAD - Colon adenocarcinoma(227;5.5e-06)|BRCA - Breast invasive adenocarcinoma(304;9.08e-05)|Kidney(64;0.000162)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.00656)|READ - Rectum adenocarcinoma(331;0.0649)		TGGCACTTGTGAGCGAAGGTG	0.672																																						uc001axo.2																			1	Substitution - Missense(1)		lung(1)		0						c.(370-372)CAC>GAC		cardiovascular heat shock protein							64.0	60.0	62.0					1																	16342218		2203	4299	6502	SO:0001583	missense	27129				regulation of heart contraction|response to heat|response to unfolded protein	Cajal body	protein C-terminus binding	g.chr1:16342218G>C	AF155908	CCDS30611.1	1p36.23-p34.3	2011-09-02	2002-08-29		ENSG00000173641	ENSG00000173641		"""Heat shock proteins / HSPB"""	5249	protein-coding gene	gene with protein product		610692	"""heat shock 27kD protein family, member 7 (cardiovascular)"""			10593960	Standard	NM_014424		Approved	cvHSP	uc001axo.2	Q9UBY9	OTTHUMG00000009531	ENST00000311890.9:c.370C>G	1.37:g.16342218G>C	ENSP00000310111:p.His124Asp					HSPB7_uc001axp.2_Missense_Mutation_p.H207D|HSPB7_uc001axq.2_Missense_Mutation_p.H216D|HSPB7_uc001axr.2_Missense_Mutation_p.H217D|HSPB7_uc001axs.2_Missense_Mutation_p.H199D	p.H124D	NM_014424	NP_055239	Q9UBY9	HSPB7_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;8.21e-08)|COAD - Colon adenocarcinoma(227;5.5e-06)|BRCA - Breast invasive adenocarcinoma(304;9.08e-05)|Kidney(64;0.000162)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.00656)|READ - Rectum adenocarcinoma(331;0.0649)	3	1197	-		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)	124					B3KQ37|C9K0Y0|Q9NU17	Missense_Mutation	SNP	ENST00000311890.9	37	c.370C>G	CCDS30611.1	.	.	.	.	.	.	.	.	.	.	G	27.6	4.842336	0.91197	.	.	ENSG00000173641	ENST00000411503;ENST00000311890;ENST00000375718;ENST00000375714;ENST00000463576;ENST00000487046;ENST00000406363	D;D;D;D;D;D	0.92199	-2.99;-2.99;-2.99;-2.99;-2.99;-2.99	4.97	4.97	0.65823	Heat shock protein Hsp20 (2);HSP20-like chaperone (1);	0.000000	0.85682	D	0.000000	D	0.95297	0.8474	M	0.72118	2.19	0.80722	D	1	D;D;D;D;D	0.76494	0.995;0.997;0.997;0.99;0.999	D;D;D;P;D	0.72338	0.914;0.953;0.953;0.908;0.977	D	0.95667	0.8720	10	0.72032	D	0.01	-13.8491	14.9386	0.70975	0.0:0.0:1.0:0.0	.	199;145;145;212;124	Q8N241;Q7Z3C1;Q5T5Q1;Q5T5Q2;Q9UBY9	.;.;.;.;HSPB7_HUMAN	D	119;124;199;217;78;129;128	ENSP00000391578:H119D;ENSP00000310111:H124D;ENSP00000364870:H199D;ENSP00000417966:H78D;ENSP00000419477:H129D;ENSP00000385472:H128D	ENSP00000310111:H124D	H	-	1	0	HSPB7	16214805	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	8.928000	0.92853	2.300000	0.77407	0.561000	0.74099	CAC		PASS	0.672	HSPB7-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000026334.2	NM_014424		20	73	20	73	---	---	---	---
LDLRAD2	401944	broad.mit.edu	37	1	22142441	22142441	+	Missense_Mutation	SNP	T	T	G			TCGA-22-4595-01A-01D-1267-08	TCGA-22-4595-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7fcf5123-2d1b-4666-9d39-a1aaf63cf954	850e8a4d-e0f6-4bd6-80f5-1c20e2b0e4f9	g.chr1:22142441T>G	ENST00000344642.2	+	3	704	c.517T>G	c.(517-519)Tgt>Ggt	p.C173G	LDLRAD2_ENST00000543870.1_Missense_Mutation_p.C173G	NM_001013693.2	NP_001013715.2	Q5SZI1	LRAD2_HUMAN	low density lipoprotein receptor class A domain containing 2	173	LDL-receptor class A. {ECO:0000255|PROSITE-ProRule:PRU00124}.					integral component of membrane (GO:0016021)		p.C173G(1)		endometrium(2)|large_intestine(1)|lung(3)	6		Colorectal(325;0.000147)|Renal(390;0.000734)|Lung NSC(340;0.00166)|all_lung(284;0.00172)|Breast(348;0.012)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0427)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;5.2e-26)|COAD - Colon adenocarcinoma(152;1.13e-05)|GBM - Glioblastoma multiforme(114;1.36e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000544)|KIRC - Kidney renal clear cell carcinoma(1967;0.00598)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.197)		CTCAGGACCTTGTGGTGCCTA	0.627																																						uc001bfg.1																			1	Substitution - Missense(1)		lung(1)		0						c.(517-519)TGT>GGT		low density lipoprotein receptor class A domain							85.0	78.0	81.0					1																	22142441		2203	4300	6503	SO:0001583	missense	401944					integral to membrane	receptor activity	g.chr1:22142441T>G	AL590103	CCDS30624.1	1p36.12	2008-02-05	2005-10-07		ENSG00000187942	ENSG00000187942			32071	protein-coding gene	gene with protein product			"""low density lipoprotein receptor A domain containing 2"""				Standard	NM_001013693		Approved		uc001bfg.1	Q5SZI1	OTTHUMG00000002675	ENST00000344642.2:c.517T>G	1.37:g.22142441T>G	ENSP00000340988:p.Cys173Gly						p.C173G	NM_001013693	NP_001013715	Q5SZI1	LRAD2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;5.2e-26)|COAD - Colon adenocarcinoma(152;1.13e-05)|GBM - Glioblastoma multiforme(114;1.36e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000544)|KIRC - Kidney renal clear cell carcinoma(1967;0.00598)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.197)	3	704	+		Colorectal(325;0.000147)|Renal(390;0.000734)|Lung NSC(340;0.00166)|all_lung(284;0.00172)|Breast(348;0.012)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0427)	173			Extracellular (Potential).|LDL-receptor class A.		B9EJB3|Q6ZSN5	Missense_Mutation	SNP	ENST00000344642.2	37	c.517T>G	CCDS30624.1	.	.	.	.	.	.	.	.	.	.	T	14.03	2.413056	0.42817	.	.	ENSG00000187942	ENST00000344642;ENST00000543870	D;D	0.99462	-5.94;-5.94	4.29	3.09	0.35607	CUB (1);	0.425469	0.20101	N	0.099237	D	0.99351	0.9772	M	0.88979	2.995	0.38597	D	0.950562	D	0.63046	0.992	P	0.62491	0.903	D	0.99866	1.1090	10	0.72032	D	0.01	-21.2306	7.7771	0.29043	0.0:0.0:0.2113:0.7887	.	173	Q5SZI1	LRAD2_HUMAN	G	173	ENSP00000340988:C173G;ENSP00000444097:C173G	ENSP00000340988:C173G	C	+	1	0	LDLRAD2	22015028	0.795000	0.28851	0.271000	0.24616	0.500000	0.33767	1.522000	0.35921	1.821000	0.53095	0.408000	0.27601	TGT		PASS	0.627	LDLRAD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007601.1	NM_001013693		32	137	32	137	---	---	---	---
XKR8	55113	broad.mit.edu	37	1	28293671	28293671	+	Missense_Mutation	SNP	C	C	T			TCGA-22-4595-01A-01D-1267-08	TCGA-22-4595-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7fcf5123-2d1b-4666-9d39-a1aaf63cf954	850e8a4d-e0f6-4bd6-80f5-1c20e2b0e4f9	g.chr1:28293671C>T	ENST00000373884.5	+	3	1756	c.1148C>T	c.(1147-1149)cCc>cTc	p.P383L		NM_018053.2	NP_060523.2	Q9H6D3	XKR8_HUMAN	XK, Kell blood group complex subunit-related family, member 8	383					engulfment of apoptotic cell (GO:0043652)|phosphatidylserine exposure on apoptotic cell surface (GO:0070782)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.P383L(1)		endometrium(1)|large_intestine(2)|lung(1)	4		Colorectal(325;0.000147)|Renal(390;0.00357)|Lung NSC(340;0.00588)|all_lung(284;0.00645)|Breast(348;0.0174)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0545)|all_neural(195;0.0557)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;4.72e-24)|Colorectal(126;1.52e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00269)|STAD - Stomach adenocarcinoma(196;0.00303)|BRCA - Breast invasive adenocarcinoma(304;0.00572)|READ - Rectum adenocarcinoma(331;0.0526)		AAGTTTTTCCCCAAGGCTAAG	0.567																																						uc001bph.1																			1	Substitution - Missense(1)		lung(1)		0						c.(1147-1149)CCC>CTC		XK, Kell blood group complex subunit-related							57.0	57.0	57.0					1																	28293671		2203	4300	6503	SO:0001583	missense	55113					integral to membrane		g.chr1:28293671C>T	AK091615	CCDS315.1	1p35.3	2008-02-05	2006-01-12		ENSG00000158156	ENSG00000158156			25508	protein-coding gene	gene with protein product			"""X Kell blood group precursor-related family, member 8"""			12477932	Standard	NM_018053		Approved	FLJ10307	uc001bph.1	Q9H6D3	OTTHUMG00000003912	ENST00000373884.5:c.1148C>T	1.37:g.28293671C>T	ENSP00000362991:p.Pro383Leu						p.P383L	NM_018053	NP_060523	Q9H6D3	XKR8_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;4.72e-24)|Colorectal(126;1.52e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00269)|STAD - Stomach adenocarcinoma(196;0.00303)|BRCA - Breast invasive adenocarcinoma(304;0.00572)|READ - Rectum adenocarcinoma(331;0.0526)	3	1225	+		Colorectal(325;0.000147)|Renal(390;0.00357)|Lung NSC(340;0.00588)|all_lung(284;0.00645)|Breast(348;0.0174)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0545)|all_neural(195;0.0557)	383						Missense_Mutation	SNP	ENST00000373884.5	37	c.1148C>T	CCDS315.1	.	.	.	.	.	.	.	.	.	.	C	10.23	1.293978	0.23564	.	.	ENSG00000158156	ENST00000373884	.	.	.	4.86	3.95	0.45737	.	1.189700	0.05930	N	0.635000	T	0.45796	0.1360	M	0.62723	1.935	0.30779	N	0.742204	B	0.31680	0.335	B	0.30401	0.115	T	0.41893	-0.9483	9	0.20046	T	0.44	.	8.9122	0.35559	0.0:0.8991:0.0:0.1009	.	383	Q9H6D3	XKR8_HUMAN	L	383	.	ENSP00000362991:P383L	P	+	2	0	XKR8	28166258	0.002000	0.14202	0.201000	0.23476	0.205000	0.24178	0.419000	0.21247	1.281000	0.44480	-0.229000	0.12294	CCC		PASS	0.567	XKR8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011175.1	NM_018053		24	131	24	131	---	---	---	---
KCNQ4	9132	broad.mit.edu	37	1	41303990	41303991	+	Missense_Mutation	DNP	CC	CC	AT			TCGA-22-4595-01A-01D-1267-08	TCGA-22-4595-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7fcf5123-2d1b-4666-9d39-a1aaf63cf954	850e8a4d-e0f6-4bd6-80f5-1c20e2b0e4f9	g.chr1:41303990_41303991CC>AT	ENST00000347132.5	+	14	1965_1966	c.1883_1884CC>AT	c.(1882-1884)tCC>tAT	p.S628Y	KCNQ4_ENST00000506017.1_3'UTR|KCNQ4_ENST00000509682.2_Missense_Mutation_p.S574Y	NM_004700.3|NM_172163.2	NP_004691.2|NP_751895.1	P56696	KCNQ4_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 4	628	A-domain (Tetramerization).				inner ear morphogenesis (GO:0042472)|potassium ion transport (GO:0006813)|sensory perception of sound (GO:0007605)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|potassium channel activity (GO:0005267)	p.S628Y(2)|p.S628S(1)		central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(13)|skin(1)	26	Ovarian(52;0.00769)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;1.38e-17)		Ezogabine(DB04953)	CAGGTGCAGTCCATCGAGCACA	0.723																																						uc001cgh.1																			3	Substitution - Missense(2)|Substitution - coding silent(1)		lung(3)	central_nervous_system(1)	1						c.(1882-1884)TCC>TAC|c.(1882-1884)TCC>TCT		potassium voltage-gated channel KQT-like protein																																				SO:0001583	missense	9132				sensory perception of sound	basal plasma membrane|voltage-gated potassium channel complex		g.chr1:41303990C>A|g.chr1:41303991C>T	AF105202	CCDS456.1	1p34	2012-07-05			ENSG00000117013	ENSG00000117013		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6298	protein-coding gene	gene with protein product		603537		DFNA2		10025409, 16382104	Standard	NM_004700		Approved	Kv7.4	uc001cgh.2	P56696	OTTHUMG00000007730	Exception_encountered	1.37:g.41303990_41303991delinsAT	ENSP00000262916:p.Ser628Tyr					KCNQ4_uc001cgi.1_Missense_Mutation_p.S574Y|KCNQ4_uc001cgi.1_Silent_p.S574S	p.S628Y|p.S628S	NM_004700	NP_004691	P56696	KCNQ4_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;1.38e-17)		14	1965|1966	+	Ovarian(52;0.00769)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0255)	628			|Cytoplasmic.|A-domain (Tetramerization).		O96025	Missense_Mutation|Silent	SNP	ENST00000347132.5	37	c.1883C>A|c.1884C>T	CCDS456.1																																																																																				PASS	0.723	KCNQ4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000020812.1	NM_004700		50	153|157	50	153	---	---	---	---
C1orf210	149466	broad.mit.edu	37	1	43748952	43748952	+	De_novo_Start_OutOfFrame	SNP	G	G	C			TCGA-22-4595-01A-01D-1267-08	TCGA-22-4595-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7fcf5123-2d1b-4666-9d39-a1aaf63cf954	850e8a4d-e0f6-4bd6-80f5-1c20e2b0e4f9	g.chr1:43748952G>C	ENST00000523677.1	-	0	223				C1orf210_ENST00000423420.1_De_novo_Start_OutOfFrame	NM_001164829.1|NM_182517.2	NP_001158301.1|NP_872323.1	Q8IVY1	CA210_HUMAN	chromosome 1 open reading frame 210							integral component of membrane (GO:0016021)				breast(1)	1	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				GGAGGGGCCTGATGACACCAG	0.577																																						uc001cit.3																			0					0						c.(-12--8)ATCAG>ATGAG		hypothetical protein LOC149466							74.0	72.0	73.0					1																	43748952		2203	4300	6503			149466					integral to membrane		g.chr1:43748952G>C	BC041633	CCDS481.1	1p34.2	2006-03-22			ENSG00000253313	ENSG00000253313			28755	protein-coding gene	gene with protein product						12477932	Standard	NM_182517		Approved	MGC52423	uc001cit.4	Q8IVY1	OTTHUMG00000007289	ENST00000523677.1:c.-11C>G	1.37:g.43748952G>C								NM_182517	NP_872323	Q8IVY1	CA210_HUMAN			2	224	-	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)						D3DPX2	Translation_Start_Site	SNP	ENST00000523677.1	37	c.-10C>G	CCDS481.1																																																																																				PASS	0.577	C1orf210-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019035.2	NM_182517		19	82	19	82	---	---	---	---
MAST2	23139	broad.mit.edu	37	1	46489553	46489553	+	Missense_Mutation	SNP	C	C	T	rs201146847		TCGA-22-4595-01A-01D-1267-08	TCGA-22-4595-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7fcf5123-2d1b-4666-9d39-a1aaf63cf954	850e8a4d-e0f6-4bd6-80f5-1c20e2b0e4f9	g.chr1:46489553C>T	ENST00000361297.2	+	15	1964	c.1681C>T	c.(1681-1683)Cgt>Tgt	p.R561C	MAST2_ENST00000372009.2_Missense_Mutation_p.R491C	NM_015112.2	NP_055927.2			microtubule associated serine/threonine kinase 2									p.R561C(1)		breast(1)|lung(3)|ovary(5)|stomach(2)	11	Acute lymphoblastic leukemia(166;0.155)|Lung SC(450;0.184)					CTTCGTGGAGCGTGACATACT	0.537													C|||	1	0.000199681	0.0	0.0	5008	,	,		23145	0.001		0.0	False		,,,				2504	0.0					uc001cov.2																			1	Substitution - Missense(1)		lung(1)	ovary(5)|lung(3)|stomach(2)|breast(1)	11						c.(1681-1683)CGT>TGT		microtubule associated serine/threonine kinase							104.0	99.0	101.0					1																	46489553		2203	4300	6503	SO:0001583	missense	23139				regulation of interleukin-12 biosynthetic process|spermatid differentiation	cytoplasm|cytoskeleton|plasma membrane	ATP binding|magnesium ion binding|phosphatase binding|protein serine/threonine kinase activity	g.chr1:46489553C>T	AB047005	CCDS41326.1	1p34.1	2008-02-05			ENSG00000086015	ENSG00000086015			19035	protein-coding gene	gene with protein product		612257					Standard	NM_015112		Approved	MAST205, KIAA0807	uc001cov.3	Q6P0Q8	OTTHUMG00000008007	ENST00000361297.2:c.1681C>T	1.37:g.46489553C>T	ENSP00000354671:p.Arg561Cys					MAST2_uc001cow.2_Missense_Mutation_p.R561C|MAST2_uc001coy.1_Missense_Mutation_p.R235C|MAST2_uc001coz.1_Missense_Mutation_p.R446C|MAST2_uc009vya.2_Missense_Mutation_p.R483C|MAST2_uc001cpa.2_RNA	p.R561C	NM_015112	NP_055927	Q6P0Q8	MAST2_HUMAN			15	1964	+	Acute lymphoblastic leukemia(166;0.155)|Lung SC(450;0.184)		561			Protein kinase.			Missense_Mutation	SNP	ENST00000361297.2	37	c.1681C>T	CCDS41326.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	21.9	4.210827	0.79240	.	.	ENSG00000086015	ENST00000361297;ENST00000372009;ENST00000432341;ENST00000372008	T;T;T	0.25085	1.82;1.82;1.82	5.48	4.51	0.55191	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.053348	0.64402	D	0.000001	T	0.49167	0.1541	M	0.75615	2.305	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	0.97110	1.0;0.992;1.0;0.999;1.0	T	0.49781	-0.8903	10	0.87932	D	0	-13.9254	11.9899	0.53169	0.331:0.669:0.0:0.0	.	235;491;235;491;561	B3KU51;Q6P0Q8-2;E7EWL1;E7ERL6;Q6P0Q8	.;.;.;.;MAST2_HUMAN	C	561;491;235;446	ENSP00000354671:R561C;ENSP00000361079:R491C;ENSP00000361078:R446C	ENSP00000354671:R561C	R	+	1	0	MAST2	46262140	1.000000	0.71417	0.998000	0.56505	0.972000	0.66771	2.650000	0.46665	2.752000	0.94435	0.555000	0.69702	CGT		PASS	0.537	MAST2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021977.1	NM_015112		43	83	43	83	---	---	---	---
ZFYVE9	9372	broad.mit.edu	37	1	52704579	52704579	+	Missense_Mutation	SNP	C	C	G			TCGA-22-4595-01A-01D-1267-08	TCGA-22-4595-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7fcf5123-2d1b-4666-9d39-a1aaf63cf954	850e8a4d-e0f6-4bd6-80f5-1c20e2b0e4f9	g.chr1:52704579C>G	ENST00000371591.1	+	3	1621	c.1490C>G	c.(1489-1491)tCc>tGc	p.S497C	ZFYVE9_ENST00000287727.3_Missense_Mutation_p.S497C|ZFYVE9_ENST00000357206.2_Missense_Mutation_p.S497C	NM_004799.2|NM_007324.2	NP_004790.2|NP_015563.2	O95405	ZFYV9_HUMAN	zinc finger, FYVE domain containing 9	497					endocytosis (GO:0006897)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|proteolysis (GO:0006508)|SMAD protein complex assembly (GO:0007183)|SMAD protein import into nucleus (GO:0007184)|transforming growth factor beta receptor signaling pathway (GO:0007179)	early endosome (GO:0005769)|early endosome membrane (GO:0031901)	1-phosphatidylinositol binding (GO:0005545)|metal ion binding (GO:0046872)|serine-type peptidase activity (GO:0008236)	p.S497C(1)		breast(1)|central_nervous_system(4)|endometrium(3)|kidney(1)|large_intestine(12)|lung(17)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	53						ACTTTACCCTCCAAAGAAGAT	0.383																																						uc001cto.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|lung(2)|central_nervous_system(2)|skin(2)	8						c.(1489-1491)TCC>TGC		zinc finger, FYVE domain containing 9 isoform 3							68.0	72.0	71.0					1																	52704579		2203	4299	6502	SO:0001583	missense	9372				endocytosis|SMAD protein complex assembly|SMAD protein import into nucleus|transforming growth factor beta receptor signaling pathway	early endosome membrane	metal ion binding|protein binding|receptor activity|serine-type peptidase activity	g.chr1:52704579C>G	AF104304	CCDS563.1, CCDS564.1	1p32.3	2014-06-13	2004-05-21	2004-05-26	ENSG00000157077	ENSG00000157077		"""Zinc fingers, FYVE domain containing"""	6775	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 173"""	603755	"""MAD, mothers against decapentaplegic homolog (Drosophila) interacting protein, receptor activation anchor"""	MADHIP		9865696	Standard	NM_007324		Approved	SMADIP, SARA, PPP1R173	uc001cto.4	O95405	OTTHUMG00000008061	ENST00000371591.1:c.1490C>G	1.37:g.52704579C>G	ENSP00000360647:p.Ser497Cys					ZFYVE9_uc001ctn.2_Missense_Mutation_p.S497C|ZFYVE9_uc001ctp.2_Missense_Mutation_p.S497C	p.S497C	NM_004799	NP_004790	O95405	ZFYV9_HUMAN			4	1662	+			497					Q5T0F6|Q5T0F7|Q9UNE1|Q9Y5R7	Missense_Mutation	SNP	ENST00000371591.1	37	c.1490C>G	CCDS563.1	.	.	.	.	.	.	.	.	.	.	C	18.23	3.578939	0.65878	.	.	ENSG00000157077	ENST00000357206;ENST00000361625;ENST00000287727;ENST00000371591	T;T;T;T	0.67523	0.17;-0.27;0.4;0.4	5.69	5.69	0.88448	.	0.000000	0.56097	D	0.000022	T	0.74876	0.3774	L	0.27053	0.805	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.998;0.997;0.999	T	0.77509	-0.2561	10	0.87932	D	0	.	19.8113	0.96547	0.0:1.0:0.0:0.0	.	497;497;497	O95405-2;O95405;O95405-3	.;ZFYV9_HUMAN;.	C	497	ENSP00000349737:S497C;ENSP00000355358:S497C;ENSP00000287727:S497C;ENSP00000360647:S497C	ENSP00000287727:S497C	S	+	2	0	ZFYVE9	52477167	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.294000	0.78760	2.690000	0.91761	0.655000	0.94253	TCC		PASS	0.383	ZFYVE9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022083.1	NM_007324		51	132	51	132	---	---	---	---
LEPROT	54741	broad.mit.edu	37	1	65897503	65897503	+	Nonsense_Mutation	SNP	C	C	A			TCGA-22-4595-01A-01D-1267-08	TCGA-22-4595-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7fcf5123-2d1b-4666-9d39-a1aaf63cf954	850e8a4d-e0f6-4bd6-80f5-1c20e2b0e4f9	g.chr1:65897503C>A	ENST00000371065.4	+	4	435	c.297C>A	c.(295-297)tgC>tgA	p.C99*	LEPR_ENST00000371060.3_Intron|LEPR_ENST00000344610.8_Intron|LEPR_ENST00000371059.3_Intron|LEPR_ENST00000406510.3_Intron|LEPR_ENST00000349533.6_Intron	NM_001198681.1|NM_017526.4	NP_001185610.1|NP_059996.1	O15243	OBRG_HUMAN	leptin receptor overlapping transcript	99					negative regulation of growth hormone receptor signaling pathway (GO:0060400)|negative regulation of JAK-STAT cascade (GO:0046426)|negative regulation of protein localization to cell surface (GO:2000009)	endosome (GO:0005768)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	receptor binding (GO:0005102)	p.C99*(1)		kidney(1)|large_intestine(1)|lung(5)	7				OV - Ovarian serous cystadenocarcinoma(397;0.00722)|KIRC - Kidney renal clear cell carcinoma(1967;0.094)		GGGGAGCCTGCGGCCTTGTGT	0.398																																						uc001dcf.2																			1	Substitution - Nonsense(1)		lung(1)		0						c.(295-297)TGC>TGA		leptin receptor gene-related protein							109.0	107.0	108.0					1																	65897503		2203	4300	6503	SO:0001587	stop_gained	54741					endosome membrane|Golgi membrane|integral to plasma membrane		g.chr1:65897503C>A	Y12670	CCDS630.1, CCDS72801.1	1p31.2	2008-02-05			ENSG00000213625	ENSG00000213625			29477	protein-coding gene	gene with protein product	"""leptin receptor gene related protein"""	613461				9207021	Standard	NM_001198681		Approved	OBRGRP, OB-RGRP, VPS55, FLJ90360	uc001dcf.3	O15243	OTTHUMG00000009065	ENST00000371065.4:c.297C>A	1.37:g.65897503C>A	ENSP00000360104:p.Cys99*					LEPR_uc001dcg.2_Intron|LEPR_uc001dch.2_Intron|LEPR_uc001dci.2_Intron|LEPR_uc009waq.2_Intron|LEPROT_uc009wap.2_Nonsense_Mutation_p.C108*	p.C99*	NM_017526	NP_059996	O15243	OBRG_HUMAN		OV - Ovarian serous cystadenocarcinoma(397;0.00722)|KIRC - Kidney renal clear cell carcinoma(1967;0.094)	4	386	+			99					Q6FHL5	Nonsense_Mutation	SNP	ENST00000371065.4	37	c.297C>A	CCDS630.1	.	.	.	.	.	.	.	.	.	.	T	27.8	4.859945	0.91433	.	.	ENSG00000213625	ENST00000371065	.	.	.	6.16	0.876	0.19138	.	0.000000	0.85682	U	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-17.5366	10.712	0.45988	0.0:0.3474:0.0:0.6526	.	.	.	.	X	99	.	ENSP00000360104:C99X	C	+	3	2	LEPROT	65670091	1.000000	0.71417	0.997000	0.53966	0.985000	0.73830	1.454000	0.35178	-0.079000	0.12707	-0.269000	0.10298	TGC		PASS	0.398	LEPROT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025132.4	NM_017526		32	68	32	68	---	---	---	---
ERICH3	127254	broad.mit.edu	37	1	75037713	75037713	+	Silent	SNP	C	C	G			TCGA-22-4595-01A-01D-1267-08	TCGA-22-4595-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7fcf5123-2d1b-4666-9d39-a1aaf63cf954	850e8a4d-e0f6-4bd6-80f5-1c20e2b0e4f9	g.chr1:75037713C>G	ENST00000326665.5	-	14	3899	c.3681G>C	c.(3679-3681)gtG>gtC	p.V1227V	C1orf173_ENST00000433746.2_5'UTR	NM_001002912.4	NP_001002912.4	Q5RHP9	ERIC3_HUMAN		1227	Glu-rich.							p.V1227V(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)	184						CAGGGGCCTGCACCTTTCCTG	0.632																																						uc001dgg.2																			1	Substitution - coding silent(1)		lung(1)	ovary(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)	5						c.(3679-3681)GTG>GTC		hypothetical protein LOC127254							66.0	66.0	66.0					1																	75037713		2203	4300	6503	SO:0001819	synonymous_variant	127254							g.chr1:75037713C>G																												ENST00000326665.5:c.3681G>C	1.37:g.75037713C>G							p.V1227V	NM_001002912	NP_001002912	Q5RHP9	CA173_HUMAN			14	3900	-			1227			Glu-rich.		Q68DL8|Q6GMR8|Q6ZSF9|Q8ND41	Silent	SNP	ENST00000326665.5	37	c.3681G>C	CCDS30755.1																																																																																				PASS	0.632	C1orf173-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026516.1			25	79	25	79	---	---	---	---
PIFO	128344	broad.mit.edu	37	1	111892811	111892811	+	Missense_Mutation	SNP	T	T	A			TCGA-22-4595-01A-01D-1267-08	TCGA-22-4595-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7fcf5123-2d1b-4666-9d39-a1aaf63cf954	850e8a4d-e0f6-4bd6-80f5-1c20e2b0e4f9	g.chr1:111892811T>A	ENST00000369738.4	+	5	838	c.473T>A	c.(472-474)gTt>gAt	p.V158D	PIFO_ENST00000484512.1_3'UTR|PIFO_ENST00000369737.4_Missense_Mutation_p.V125D	NM_181643.4	NP_857594.2	Q8TCI5	PIFO_HUMAN	primary cilia formation	158					cell projection organization (GO:0030030)|positive regulation of kinase activity (GO:0033674)|regulation of cell projection organization (GO:0031344)	ciliary basal body (GO:0036064)|cytoplasmic vesicle (GO:0031410)|nucleus (GO:0005634)|trans-Golgi network (GO:0005802)	beta-tubulin binding (GO:0048487)|gamma-tubulin binding (GO:0043015)|kinesin binding (GO:0019894)|protein kinase binding (GO:0019901)|Rab GTPase binding (GO:0017137)	p.V158D(1)									TGGGCTCAGGTTCCATGTCTA	0.418																																						uc001eaw.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(472-474)GTT>GAT		hypothetical protein LOC128344							123.0	134.0	130.0					1																	111892811		2203	4300	6503	SO:0001583	missense	128344							g.chr1:111892811T>A	BC050319	CCDS833.1, CCDS72836.1	1p13.2	2012-10-10	2012-10-10	2012-10-10	ENSG00000173947	ENSG00000173947			27009	protein-coding gene	gene with protein product		614234	"""chromosome 1 open reading frame 88"""	C1orf88		20643351	Standard	XM_005270472		Approved	FLJ23853, pitchfork	uc001eaw.2	Q8TCI5	OTTHUMG00000011168	ENST00000369738.4:c.473T>A	1.37:g.111892811T>A	ENSP00000358753:p.Val158Asp					C1orf88_uc001eax.2_Missense_Mutation_p.V125D|C1orf88_uc009wge.1_Silent_p.G81G|C1orf88_uc001eay.2_Missense_Mutation_p.V71D	p.V158D	NM_181643	NP_857594	Q8TCI5	CA088_HUMAN		Lung(183;0.0239)|Colorectal(144;0.0301)|all cancers(265;0.0677)|Epithelial(280;0.0897)|COAD - Colon adenocarcinoma(174;0.116)|LUSC - Lung squamous cell carcinoma(189;0.135)	5	553	+		all_cancers(81;3.21e-05)|all_epithelial(167;1.19e-05)|all_lung(203;0.000152)|Lung NSC(277;0.000301)	158					D9J0A2|D9J0A3|Q4G0K4|Q52LJ6|Q5T5D5|Q5T5D6|Q8N310	Missense_Mutation	SNP	ENST00000369738.4	37	c.473T>A	CCDS833.1	.	.	.	.	.	.	.	.	.	.	T	18.54	3.645536	0.67358	.	.	ENSG00000173947	ENST00000369738;ENST00000369737	T;T	0.37915	1.61;1.17	5.87	5.87	0.94306	.	0.093210	0.46758	D	0.000267	T	0.48696	0.1514	M	0.76574	2.34	0.58432	D	0.999994	D;D	0.67145	0.996;0.996	D;D	0.63877	0.919;0.919	T	0.56068	-0.8040	10	0.87932	D	0	-9.1201	12.6618	0.56817	0.0:0.0:0.0:1.0	.	125;158	Q8TCI5-3;Q8TCI5	.;PIFO_HUMAN	D	158;125	ENSP00000358753:V158D;ENSP00000358752:V125D	ENSP00000358752:V125D	V	+	2	0	C1orf88	111694334	1.000000	0.71417	0.999000	0.59377	0.589000	0.36550	4.499000	0.60380	2.248000	0.74166	0.533000	0.62120	GTT		PASS	0.418	PIFO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030718.1	NM_181643		69	242	69	242	---	---	---	---
BCAN	63827	broad.mit.edu	37	1	156618367	156618367	+	Silent	SNP	G	G	T			TCGA-22-4595-01A-01D-1267-08	TCGA-22-4595-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7fcf5123-2d1b-4666-9d39-a1aaf63cf954	850e8a4d-e0f6-4bd6-80f5-1c20e2b0e4f9	g.chr1:156618367G>T	ENST00000329117.5	+	6	1113	c.777G>T	c.(775-777)ctG>ctT	p.L259L	BCAN_ENST00000361588.5_Silent_p.L259L|RP11-284F21.7_ENST00000448869.1_RNA	NM_021948.4	NP_068767.3	Q96GW7	PGCB_HUMAN	brevican	259	Link 2. {ECO:0000255|PROSITE- ProRule:PRU00323}.				carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|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)|hippocampus development (GO:0021766)|small molecule metabolic process (GO:0044281)	anchored component of membrane (GO:0031225)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|proteinaceous extracellular matrix (GO:0005578)	carbohydrate binding (GO:0030246)|hyaluronic acid binding (GO:0005540)	p.L259L(2)		cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	55	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					CAGGAGAACTGTTCCTGGGTG	0.592																																						uc001fpp.2																			2	Substitution - coding silent(2)		lung(2)	ovary(1)|pancreas(1)	2						c.(775-777)CTG>CTT		brevican isoform 1							68.0	69.0	69.0					1																	156618367		2203	4300	6503	SO:0001819	synonymous_variant	63827				cell adhesion	anchored to membrane|proteinaceous extracellular matrix	hyaluronic acid binding|sugar binding	g.chr1:156618367G>T	BC027971	CCDS1149.1, CCDS1150.1	1q31	2013-05-07			ENSG00000132692	ENSG00000132692		"""Immunoglobulin superfamily / V-set domain containing"", ""Proteoglycans / Extracellular Matrix : Hyalectans"""	23059	protein-coding gene	gene with protein product	"""chondroitin sulfate proteoglycan 7"", ""brevican proteoglycan"""	600347				11054543, 11873941	Standard	NM_021948		Approved	BEHAB, MGC13038, CSPG7	uc001fpp.3	Q96GW7	OTTHUMG00000033322	ENST00000329117.5:c.777G>T	1.37:g.156618367G>T						BCAN_uc001fpo.2_Silent_p.L259L	p.L259L	NM_021948	NP_068767	Q96GW7	PGCB_HUMAN			6	1113	+	all_hematologic(923;0.088)|Hepatocellular(266;0.158)		259			Link 2.		D3DVC2|Q5SZ10|Q5T3I5|Q8TBB9|Q9HBK1|Q9HBK4	Silent	SNP	ENST00000329117.5	37	c.777G>T	CCDS1149.1																																																																																				PASS	0.592	BCAN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000081844.2	NM_021948		48	179	48	179	---	---	---	---
FCRL3	115352	broad.mit.edu	37	1	157668205	157668205	+	Silent	SNP	G	G	C			TCGA-22-4595-01A-01D-1267-08	TCGA-22-4595-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7fcf5123-2d1b-4666-9d39-a1aaf63cf954	850e8a4d-e0f6-4bd6-80f5-1c20e2b0e4f9	g.chr1:157668205G>C	ENST00000368184.3	-	4	558	c.267C>G	c.(265-267)ctC>ctG	p.L89L	RP11-367J7.3_ENST00000453692.1_RNA|FCRL3_ENST00000473231.1_5'Flank|FCRL3_ENST00000368186.5_Silent_p.L89L	NM_052939.3	NP_443171.2	Q96P31	FCRL3_HUMAN	Fc receptor-like 3	89	Ig-like C2-type 1.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.L89L(1)		autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(1)|large_intestine(13)|lung(31)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)	69	all_hematologic(112;0.0378)					CGGCATCACTGAGGGAGGATC	0.463																																						uc001frb.2																			1	Substitution - coding silent(1)		lung(1)	ovary(3)|breast(1)	4						c.(265-267)CTC>CTG		Fc receptor-like 3 precursor							161.0	146.0	151.0					1																	157668205		2203	4300	6503	SO:0001819	synonymous_variant	115352					integral to membrane|plasma membrane	receptor activity	g.chr1:157668205G>C	AF459027	CCDS1167.1	1q21-q22	2013-01-11			ENSG00000160856	ENSG00000160856		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	18506	protein-coding gene	gene with protein product		606510				11493702, 12014205	Standard	XR_241065		Approved	FCRH3, IRTA3, IFGP3, SPAP2a, SPAP2, SPAP2b, SPAP2c, SPAP2d, SPAP2e, CD307c	uc001frb.3	Q96P31	OTTHUMG00000019400	ENST00000368184.3:c.267C>G	1.37:g.157668205G>C						FCRL3_uc001fqx.3_RNA|FCRL3_uc001fqy.3_RNA|FCRL3_uc001fqz.3_Silent_p.L89L|FCRL3_uc009wsn.2_RNA|FCRL3_uc009wso.2_RNA|FCRL3_uc001fra.2_5'Flank|FCRL3_uc001frc.1_Silent_p.L89L	p.L89L	NM_052939	NP_443171	Q96P31	FCRL3_HUMAN			4	559	-	all_hematologic(112;0.0378)		89			Ig-like C2-type 1.|Extracellular (Potential).		A0N0M4|A8MTH7|D3DVD2|Q5VXZ8|Q8N6S2|Q96LA4|Q96P27|Q96P28|Q96P29|Q96P30	Silent	SNP	ENST00000368184.3	37	c.267C>G	CCDS1167.1																																																																																				PASS	0.463	FCRL3-006	NOVEL	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051419.2	NM_052939		49	289	49	289	---	---	---	---
CRP	1401	broad.mit.edu	37	1	159683350	159683350	+	Missense_Mutation	SNP	C	C	A			TCGA-22-4595-01A-01D-1267-08	TCGA-22-4595-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7fcf5123-2d1b-4666-9d39-a1aaf63cf954	850e8a4d-e0f6-4bd6-80f5-1c20e2b0e4f9	g.chr1:159683350C>A	ENST00000255030.5	-	2	743	c.640G>T	c.(640-642)Ggc>Tgc	p.G214C	CRP_ENST00000473196.1_5'UTR|CRP_ENST00000368111.1_Missense_Mutation_p.G92C|CRP_ENST00000368110.1_Missense_Mutation_p.G92C|CRP_ENST00000437342.1_Missense_Mutation_p.G36C|CRP_ENST00000368112.1_Missense_Mutation_p.G81C|CRP_ENST00000343919.2_Missense_Mutation_p.G92C	NM_000567.2	NP_000558.2	P02741	CRP_HUMAN	C-reactive protein, pentraxin-related	214	Pentaxin.				acute-phase response (GO:0006953)|aging (GO:0007568)|cellular response to calcium ion (GO:0071277)|complement activation, classical pathway (GO:0006958)|defense response to Gram-positive bacterium (GO:0050830)|inflammatory response (GO:0006954)|negative regulation of lipid storage (GO:0010888)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|opsonization (GO:0008228)|positive regulation of dendrite development (GO:1900006)|protein polymerization (GO:0051258)|regulation of interleukin-8 secretion (GO:2000482)|response to ethanol (GO:0045471)|response to hypoxia (GO:0001666)|response to lead ion (GO:0010288)|wound healing (GO:0042060)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|growth cone (GO:0030426)	calcium ion binding (GO:0005509)|cholesterol binding (GO:0015485)|choline binding (GO:0033265)|complement component C1q binding (GO:0001849)|low-density lipoprotein particle binding (GO:0030169)	p.G214C(1)		breast(1)|endometrium(3)|kidney(1)|lung(15)|ovary(1)|skin(1)	22	all_hematologic(112;0.0429)				inhaled insulin(DB05278)	AACACTTCGCCTTGCACTTCA	0.557																																						uc001ftw.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(640-642)GGC>TGC		C-reactive protein, pentraxin-related precursor	Atorvastatin(DB01076)|Bezafibrate(DB01393)						47.0	49.0	49.0					1																	159683350		2203	4300	6503	SO:0001583	missense	1401				acute-phase response|negative regulation of lipid storage|negative regulation of macrophage derived foam cell differentiation|opsonization		choline binding|Gram-positive bacterial cell surface binding|low-density lipoprotein particle binding|metal ion binding|protein binding	g.chr1:159683350C>A	M11725	CCDS30911.1	1q23.2	2013-05-13			ENSG00000132693	ENSG00000132693			2367	protein-coding gene	gene with protein product	"""pentraxin 1"""	123260				3840479, 6857266	Standard	NM_000567		Approved	PTX1	uc001ftw.3	P02741	OTTHUMG00000035344	ENST00000255030.5:c.640G>T	1.37:g.159683350C>A	ENSP00000255030:p.Gly214Cys					CRP_uc001ftx.1_Missense_Mutation_p.G81C|CRP_uc001fty.1_RNA	p.G214C	NM_000567	NP_000558	P02741	CRP_HUMAN			2	744	-	all_hematologic(112;0.0429)		214			Pentaxin.		A8K078|D3DVD9|D3DVE0|Q08AK3|Q8WW75	Missense_Mutation	SNP	ENST00000255030.5	37	c.640G>T	CCDS30911.1	.	.	.	.	.	.	.	.	.	.	C	17.62	3.435137	0.62955	.	.	ENSG00000132693	ENST00000255030;ENST00000437342;ENST00000368112;ENST00000368111;ENST00000368110;ENST00000343919	T;T;T;T;T;T	0.67345	-0.26;-0.26;2.85;2.85;2.85;2.85	4.23	3.32	0.38043	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);	0.119062	0.56097	D	0.000031	T	0.81555	0.4847	H	0.95745	3.715	0.47621	D	0.999477	D;D	0.89917	1.0;1.0	D;D	0.97110	0.997;1.0	D	0.84576	0.0658	10	0.87932	D	0	-16.2147	9.7583	0.40517	0.0:0.8961:0.0:0.1038	.	81;214	P02741-2;P02741	.;CRP_HUMAN	C	214;36;81;92;92;92	ENSP00000255030:G214C;ENSP00000402788:G36C;ENSP00000357093:G81C;ENSP00000357092:G92C;ENSP00000357091:G92C;ENSP00000340882:G92C	ENSP00000255030:G214C	G	-	1	0	CRP	157949974	0.531000	0.26338	0.215000	0.23724	0.023000	0.10783	2.963000	0.49184	0.749000	0.32854	0.650000	0.86243	GGC		PASS	0.557	CRP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085553.1	NM_000567		46	134	46	134	---	---	---	---
DCAF8	50717	broad.mit.edu	37	1	160209783	160209783	+	Nonsense_Mutation	SNP	C	C	A			TCGA-22-4595-01A-01D-1267-08	TCGA-22-4595-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7fcf5123-2d1b-4666-9d39-a1aaf63cf954	850e8a4d-e0f6-4bd6-80f5-1c20e2b0e4f9	g.chr1:160209783C>A	ENST00000368073.3	-	4	861	c.427G>T	c.(427-429)Gaa>Taa	p.E143*	DCAF8_ENST00000610139.1_Nonsense_Mutation_p.E143*|DCAF8_ENST00000368074.1_Nonsense_Mutation_p.E143*|DCAF8_ENST00000556710.1_Nonsense_Mutation_p.E297*|DCAF8_ENST00000608310.1_Nonsense_Mutation_p.E297*|DCAF8_ENST00000475733.1_Nonsense_Mutation_p.E143*|DCAF8_ENST00000326837.2_Nonsense_Mutation_p.E143*			Q5TAQ9	DCAF8_HUMAN	DDB1 and CUL4 associated factor 8	143					protein ubiquitination (GO:0016567)	Cul4-RING E3 ubiquitin ligase complex (GO:0080008)|cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.E297*(1)|p.E143*(1)		cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(16)|skin(3)|upper_aerodigestive_tract(1)	33						GCTGATGTTTCTGAGGACACC	0.632																																						uc001fvo.2																			2	Substitution - Nonsense(2)		lung(2)	skin(2)	2						c.(427-429)GAA>TAA		DDB1 and CUL4 associated factor 8							58.0	59.0	59.0					1																	160209783		2203	4300	6503	SO:0001587	stop_gained	50717					CUL4 RING ubiquitin ligase complex	protein binding	g.chr1:160209783C>A	AK093176	CCDS1200.1	1q22-q23	2013-01-09	2009-07-17	2009-07-17	ENSG00000132716	ENSG00000132716		"""WD repeat domain containing"", ""DDB1 and CUL4 associated factors"""	24891	protein-coding gene	gene with protein product		615820	"""WD repeat domain 42A"""	WDR42A		11401431	Standard	NM_015726		Approved	H326, FLJ35857	uc010pjb.1	Q5TAQ9	OTTHUMG00000031604	ENST00000368073.3:c.427G>T	1.37:g.160209783C>A	ENSP00000357052:p.Glu143*					DCAF8_uc001fvn.2_Nonsense_Mutation_p.E143*|DCAF8_uc009wth.2_Nonsense_Mutation_p.E143*|DCAF8_uc010pjb.1_Nonsense_Mutation_p.E143*|DCAF8_uc010pjc.1_Nonsense_Mutation_p.E297*|DCAF8_uc001fvq.3_Nonsense_Mutation_p.E143*|DCAF8_uc001fvp.3_Nonsense_Mutation_p.E143*|uc010pjd.1_3'UTR	p.E143*	NM_015726	NP_056541	Q5TAQ9	DCAF8_HUMAN			4	739	-			143					D3DVE6|Q12839|Q4QQI6|Q53F14|Q66K50|Q68CS7|Q96E00	Nonsense_Mutation	SNP	ENST00000368073.3	37	c.427G>T	CCDS1200.1	.	.	.	.	.	.	.	.	.	.	C	36	5.822671	0.96989	.	.	ENSG00000132716;ENSG00000132716;ENSG00000132716;ENSG00000132716;ENSG00000132716;ENSG00000132716;ENSG00000258465	ENST00000368073;ENST00000326837;ENST00000368074;ENST00000555195;ENST00000540855;ENST00000447377;ENST00000556710	.	.	.	5.03	5.03	0.67393	.	0.148901	0.43747	U	0.000536	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.27082	T	0.32	-12.5371	17.1617	0.86805	0.0:1.0:0.0:0.0	.	.	.	.	X	143;143;143;297;124;143;297	.	ENSP00000318227:E143X	E	-	1	0	RP11-574F21.3;DCAF8	158476407	0.974000	0.33945	0.996000	0.52242	0.953000	0.61014	3.641000	0.54360	2.328000	0.79073	0.650000	0.86243	GAA		PASS	0.632	DCAF8-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000077402.2	NM_015726		47	151	47	151	---	---	---	---
ADAMTS4	9507	broad.mit.edu	37	1	161162001	161162001	+	Missense_Mutation	SNP	G	G	C			TCGA-22-4595-01A-01D-1267-08	TCGA-22-4595-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7fcf5123-2d1b-4666-9d39-a1aaf63cf954	850e8a4d-e0f6-4bd6-80f5-1c20e2b0e4f9	g.chr1:161162001G>C	ENST00000367996.5	-	8	2369	c.1941C>G	c.(1939-1941)gaC>gaG	p.D647E	ADAMTS4_ENST00000478394.1_5'Flank	NM_005099.4	NP_005090.3	O75173	ATS4_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 4	647	Cys-rich.				defense response to bacterium (GO:0042742)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|proteolysis (GO:0006508)|skeletal system development (GO:0001501)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|peptidase activity (GO:0008233)|protease binding (GO:0002020)|zinc ion binding (GO:0008270)	p.D647E(2)		central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(20)|ovary(4)|prostate(3)|skin(1)|urinary_tract(1)	43	all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00275)		Tinzaparin(DB06822)	CCGAGGAGCTGTCCGGGGAAC	0.532											OREG0013940	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc001fyt.3																			2	Substitution - Missense(2)		lung(2)	ovary(4)|central_nervous_system(1)	5						c.(1939-1941)GAC>GAG		ADAM metallopeptidase with thrombospondin type 1							60.0	60.0	60.0					1																	161162001		2203	4300	6503	SO:0001583	missense	9507				proteolysis|skeletal system development	extracellular space|proteinaceous extracellular matrix	metalloendopeptidase activity|protease binding|zinc ion binding	g.chr1:161162001G>C	AB014588	CCDS1223.1	1q31-q32	2008-02-05	2005-08-19		ENSG00000158859	ENSG00000158859		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	220	protein-coding gene	gene with protein product		603876	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 4"""			10094461	Standard	NM_005099		Approved	KIAA0688, ADAMTS-2, ADMP-1	uc001fyt.4	O75173	OTTHUMG00000034349	ENST00000367996.5:c.1941C>G	1.37:g.161162001G>C	ENSP00000356975:p.Asp647Glu		OREG0013940	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1814		p.D647E	NM_005099	NP_005090	O75173	ATS4_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.00275)		8	2369	-	all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		647			Cys-rich.		Q5VTW2|Q6P4Q8|Q6UWA8|Q9UN83	Missense_Mutation	SNP	ENST00000367996.5	37	c.1941C>G	CCDS1223.1	.	.	.	.	.	.	.	.	.	.	G	12.39	1.923632	0.33908	.	.	ENSG00000158859	ENST00000367996	T	0.67523	-0.27	4.92	2.05	0.26809	.	0.000000	0.64402	D	0.000004	T	0.33000	0.0848	L	0.46614	1.455	0.80722	D	1	B	0.06786	0.001	B	0.10450	0.005	T	0.14783	-1.0460	10	0.30078	T	0.28	.	3.2772	0.06902	0.1579:0.1369:0.5642:0.141	.	647	O75173	ATS4_HUMAN	E	647	ENSP00000356975:D647E	ENSP00000356975:D647E	D	-	3	2	ADAMTS4	159428625	0.992000	0.36948	0.995000	0.50966	0.980000	0.70556	0.208000	0.17415	0.286000	0.22352	0.467000	0.42956	GAC		PASS	0.532	ADAMTS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083066.2	NM_005099		35	176	35	176	---	---	---	---
C1orf110	339512	broad.mit.edu	37	1	162824578	162824578	+	Missense_Mutation	SNP	G	G	T			TCGA-22-4595-01A-01D-1267-08	TCGA-22-4595-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7fcf5123-2d1b-4666-9d39-a1aaf63cf954	850e8a4d-e0f6-4bd6-80f5-1c20e2b0e4f9	g.chr1:162824578G>T	ENST00000367910.1	-	4	1006	c.886C>A	c.(886-888)Cct>Act	p.P296T	C1orf110_ENST00000367911.2_Intron|C1orf110_ENST00000367912.2_Intron|C1orf110_ENST00000524691.1_Intron	NM_178550.4	NP_848645.3	Q86UF4	CA110_HUMAN	chromosome 1 open reading frame 110	296								p.P296T(1)		endometrium(2)|kidney(1)|lung(6)|prostate(1)|skin(2)	12						AACTTAGAAGGCACCCTGTTT	0.438																																						uc001gck.2																			1	Substitution - Missense(1)		lung(1)		0						c.(886-888)CCT>ACT		hypothetical protein LOC339512							87.0	85.0	86.0					1																	162824578		1913	4112	6025	SO:0001583	missense	339512							g.chr1:162824578G>T	BC040018	CCDS44269.1	1q23.3	2012-06-26			ENSG00000185860	ENSG00000185860			28736	protein-coding gene	gene with protein product						12477932	Standard	NM_178550		Approved	MGC48998	uc001gck.2	Q86UF4	OTTHUMG00000034421	ENST00000367910.1:c.886C>A	1.37:g.162824578G>T	ENSP00000356886:p.Pro296Thr					C1orf110_uc009wuw.1_Intron|C1orf110_uc009wux.1_Missense_Mutation_p.P295T	p.P296T	NM_178550	NP_848645	Q86UF4	CA110_HUMAN			4	1061	-			296					Q5JSG1|Q6ZW57	Missense_Mutation	SNP	ENST00000367910.1	37	c.886C>A	CCDS44269.1	.	.	.	.	.	.	.	.	.	.	G	9.908	1.208703	0.22205	.	.	ENSG00000185860	ENST00000367910	.	.	.	4.41	-1.61	0.08399	.	0.439021	0.17056	N	0.188721	T	0.04952	0.0133	N	0.08118	0	0.22389	N	0.999147	B	0.16396	0.017	B	0.12156	0.007	T	0.23368	-1.0190	8	0.87932	D	0	-0.0133	2.1381	0.03768	0.1145:0.233:0.4186:0.2339	.	296	Q86UF4	CA110_HUMAN	T	296	.	ENSP00000356886:P296T	P	-	1	0	C1orf110	161091202	0.005000	0.15991	0.000000	0.03702	0.001000	0.01503	0.434000	0.21494	-0.469000	0.06911	-0.175000	0.13238	CCT		PASS	0.438	C1orf110-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083211.2	NM_178550		61	118	61	118	---	---	---	---
DPT	1805	broad.mit.edu	37	1	168698286	168698286	+	Silent	SNP	G	G	T	rs147889127		TCGA-22-4595-01A-01D-1267-08	TCGA-22-4595-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7fcf5123-2d1b-4666-9d39-a1aaf63cf954	850e8a4d-e0f6-4bd6-80f5-1c20e2b0e4f9	g.chr1:168698286G>T	ENST00000367817.3	-	1	216	c.127C>A	c.(127-129)Cgg>Agg	p.R43R		NM_001937.4	NP_001928.2	Q07507	DERM_HUMAN	dermatopontin	43	2 X 53-55 AA tandem repeats.				cell adhesion (GO:0007155)|collagen fibril organization (GO:0030199)|negative regulation of cell proliferation (GO:0008285)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)		p.R43R(1)		kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)	12	all_hematologic(923;0.208)					AAGCCTTGCCGGTTCAAATTC	0.542																																						uc001gfp.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(127-129)CGG>AGG		dermatopontin precursor							114.0	94.0	101.0					1																	168698286		2203	4300	6503	SO:0001819	synonymous_variant	1805				cell adhesion	extracellular space|proteinaceous extracellular matrix		g.chr1:168698286G>T	BC033736	CCDS1275.1	1q12-q23	2008-02-05			ENSG00000143196	ENSG00000143196			3011	protein-coding gene	gene with protein product		125597				8104875	Standard	NM_001937		Approved		uc001gfp.3	Q07507	OTTHUMG00000034554	ENST00000367817.3:c.127C>A	1.37:g.168698286G>T							p.R43R	NM_001937	NP_001928	Q07507	DERM_HUMAN			1	143	-	all_hematologic(923;0.208)		43			2 X 53-55 AA tandem repeats.|1-1.		A8K981|Q8N4R2|Q9UIX8	Silent	SNP	ENST00000367817.3	37	c.127C>A	CCDS1275.1																																																																																				PASS	0.542	DPT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083618.1	NM_001937		29	120	29	120	---	---	---	---
KIFAP3	22920	broad.mit.edu	37	1	169952476	169952476	+	Missense_Mutation	SNP	G	G	A			TCGA-22-4595-01A-01D-1267-08	TCGA-22-4595-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7fcf5123-2d1b-4666-9d39-a1aaf63cf954	850e8a4d-e0f6-4bd6-80f5-1c20e2b0e4f9	g.chr1:169952476G>A	ENST00000361580.2	-	13	1668	c.1441C>T	c.(1441-1443)Cca>Tca	p.P481S	KIFAP3_ENST00000367765.1_Missense_Mutation_p.P441S|KIFAP3_ENST00000367767.1_Missense_Mutation_p.P437S|KIFAP3_ENST00000538366.1_Missense_Mutation_p.P403S|KIFAP3_ENST00000540905.1_Missense_Mutation_p.P183S	NM_014970.3	NP_055785.2	Q92845	KIFA3_HUMAN	kinesin-associated protein 3	481					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|blood coagulation (GO:0007596)|membrane organization (GO:0061024)|microtubule-based movement (GO:0007018)|microtubule-based process (GO:0007017)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|plus-end-directed vesicle transport along microtubule (GO:0072383)|positive regulation of calcium-dependent cell-cell adhesion (GO:0046587)|protein complex assembly (GO:0006461)|protein localization (GO:0008104)|signal transduction (GO:0007165)	centrosome (GO:0005813)|condensed nuclear chromosome (GO:0000794)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|intraciliary transport particle (GO:0030990)|kinesin II complex (GO:0016939)|microtubule cytoskeleton (GO:0015630)	kinesin binding (GO:0019894)	p.P481S(1)		endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(18)|prostate(2)|skin(3)|urinary_tract(2)	35	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					ATCAGCAATGGATCCTTAAAC	0.333																																						uc001ggv.2																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(1441-1443)CCA>TCA		kinesin-associated protein 3							69.0	66.0	67.0					1																	169952476		2203	4300	6503	SO:0001583	missense	22920				blood coagulation|plus-end-directed vesicle transport along microtubule|protein complex assembly|signal transduction	centrosome|condensed nuclear chromosome|cytosol|endoplasmic reticulum|kinesin II complex|spindle microtubule	kinesin binding	g.chr1:169952476G>A	U59919	CCDS1288.1, CCDS55659.1, CCDS55660.1, CCDS55661.1	1q24.2	2012-09-20			ENSG00000075945	ENSG00000075945			17060	protein-coding gene	gene with protein product	"""Smg GDS"""	601836				8900189	Standard	NM_014970		Approved	SMAP, KAP3, FLA3, KAP-1	uc001ggv.3	Q92845	OTTHUMG00000035947	ENST00000361580.2:c.1441C>T	1.37:g.169952476G>A	ENSP00000354560:p.Pro481Ser					KIFAP3_uc010plx.1_Missense_Mutation_p.P183S	p.P481S	NM_014970	NP_055785	Q92845	KIFA3_HUMAN			13	1712	-	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)		481					B1AKU4|B1AKU5|B2RDL1|B7Z8A3|F5H591|Q8NHU7|Q9H416	Missense_Mutation	SNP	ENST00000361580.2	37	c.1441C>T	CCDS1288.1	.	.	.	.	.	.	.	.	.	.	G	13.48	2.249562	0.39797	.	.	ENSG00000075945	ENST00000361580;ENST00000367765;ENST00000367767;ENST00000540905;ENST00000538366	T;T;T;T;T	0.52754	0.65;0.65;0.65;0.65;0.65	5.42	5.42	0.78866	Armadillo-like helical (1);Armadillo-type fold (1);	0.219470	0.48286	D	0.000195	T	0.39545	0.1082	M	0.62723	1.935	0.52099	D	0.999944	P	0.34864	0.473	B	0.38106	0.265	T	0.29058	-1.0024	9	.	.	.	-9.8956	18.8192	0.92089	0.0:0.0:1.0:0.0	.	481	Q92845	KIFA3_HUMAN	S	481;441;437;183;403	ENSP00000354560:P481S;ENSP00000356739:P441S;ENSP00000356741:P437S;ENSP00000442712:P183S;ENSP00000444622:P403S	.	P	-	1	0	KIFAP3	168219100	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	5.015000	0.64035	2.522000	0.85027	0.557000	0.71058	CCA		PASS	0.333	KIFAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087568.1	NM_014970		44	46	44	46	---	---	---	---
AXDND1	126859	broad.mit.edu	37	1	179380308	179380308	+	Nonsense_Mutation	SNP	T	T	A			TCGA-22-4595-01A-01D-1267-08	TCGA-22-4595-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7fcf5123-2d1b-4666-9d39-a1aaf63cf954	850e8a4d-e0f6-4bd6-80f5-1c20e2b0e4f9	g.chr1:179380308T>A	ENST00000367618.3	+	12	1524	c.1137T>A	c.(1135-1137)taT>taA	p.Y379*	AXDND1_ENST00000461179.2_3'UTR|AXDND1_ENST00000457238.2_Nonsense_Mutation_p.Y379*	NM_144696.4	NP_653297.3	Q5T1B0	AXDN1_HUMAN	axonemal dynein light chain domain containing 1	379								p.Y379*(1)		NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(27)|ovary(1)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	59						ATGACTTATATACATTACAAA	0.289																																						uc001gmo.2																			1	Substitution - Nonsense(1)		lung(1)		0						c.(1135-1137)TAT>TAA		hypothetical protein LOC126859 isoform 1							64.0	76.0	72.0					1																	179380308		2201	4299	6500	SO:0001587	stop_gained	126859							g.chr1:179380308T>A	BX647935	CCDS30948.1	1q25.2	2011-02-18	2011-02-18	2011-02-18	ENSG00000162779	ENSG00000162779			26564	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 125"""	C1orf125		14702039	Standard	NM_144696		Approved	FLJ32940	uc001gmo.3	Q5T1B0	OTTHUMG00000035266	ENST00000367618.3:c.1137T>A	1.37:g.179380308T>A	ENSP00000356590:p.Tyr379*					C1orf125_uc009wxg.2_RNA|C1orf125_uc001gmn.1_Nonsense_Mutation_p.Y167*|C1orf125_uc010pnl.1_RNA|C1orf125_uc001gmp.2_Nonsense_Mutation_p.Y379*	p.Y379*	NM_144696	NP_653297	Q5T1B0	AXDN1_HUMAN			12	1264	+			379			Potential.		Q6AWB2|Q96LJ3|Q96M01	Nonsense_Mutation	SNP	ENST00000367618.3	37	c.1137T>A	CCDS30948.1	.	.	.	.	.	.	.	.	.	.	T	32	5.121916	0.94429	.	.	ENSG00000162779	ENST00000367618;ENST00000360322;ENST00000457238;ENST00000434088	.	.	.	5.18	1.53	0.23141	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-15.4437	6.712	0.23282	0.0:0.3161:0.0:0.6839	.	.	.	.	X	379;337;379;313	.	ENSP00000353471:Y337X	Y	+	3	2	AXDND1	177646931	0.997000	0.39634	0.980000	0.43619	0.957000	0.61999	0.337000	0.19841	0.057000	0.16193	-0.386000	0.06593	TAT		PASS	0.289	AXDND1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085312.1	NM_144696		48	135	48	135	---	---	---	---
NPHS2	7827	broad.mit.edu	37	1	179520317	179520317	+	Silent	SNP	G	G	T			TCGA-22-4595-01A-01D-1267-08	TCGA-22-4595-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7fcf5123-2d1b-4666-9d39-a1aaf63cf954	850e8a4d-e0f6-4bd6-80f5-1c20e2b0e4f9	g.chr1:179520317G>T	ENST00000367615.4	-	8	1211	c.1143C>A	c.(1141-1143)ccC>ccA	p.P381P	NPHS2_ENST00000367616.4_Silent_p.P313P|AXDND1_ENST00000367618.3_Intron|RP11-545A16.1_ENST00000569644.1_RNA	NM_014625.2	NP_055440.1	Q9NP85	PODO_HUMAN	nephrosis 2, idiopathic, steroid-resistant (podocin)	381					actin cytoskeleton reorganization (GO:0031532)|excretion (GO:0007588)|metanephric glomerular visceral epithelial cell development (GO:0072249)	cell-cell junction (GO:0005911)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|slit diaphragm (GO:0036057)		p.P381P(1)		NS(1)|endometrium(1)|large_intestine(3)|lung(10)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	20						CCTATAACATGGGAGAGTCTT	0.498																																						uc001gmq.3																			1	Substitution - coding silent(1)		lung(1)		0						c.(1141-1143)CCC>CCA		podocin							51.0	50.0	50.0					1																	179520317		2203	4300	6503	SO:0001819	synonymous_variant	7827				excretion	integral to plasma membrane	protein binding	g.chr1:179520317G>T	AJ279254	CCDS1331.1, CCDS72988.1	1q25-q31	2014-06-27			ENSG00000116218	ENSG00000116218			13394	protein-coding gene	gene with protein product		604766				8589695, 10742096	Standard	XM_005245483		Approved	SRN1, PDCN	uc001gmq.4	Q9NP85	OTTHUMG00000035252	ENST00000367615.4:c.1143C>A	1.37:g.179520317G>T						C1orf125_uc009wxg.2_Intron|C1orf125_uc001gmo.2_Intron|C1orf125_uc001gmp.2_Intron|C1orf125_uc009wxh.2_Intron|NPHS2_uc009wxi.2_Silent_p.P313P|C1orf125_uc001gmr.2_RNA	p.P381P	NM_014625	NP_055440	Q9NP85	PODO_HUMAN			8	1228	-			381			Cytoplasmic (Potential).		B1AM32|B1AM33|Q8N6Q5	Silent	SNP	ENST00000367615.4	37	c.1143C>A	CCDS1331.1																																																																																				PASS	0.498	NPHS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085283.1			19	75	19	75	---	---	---	---
HMCN1	83872	broad.mit.edu	37	1	185878584	185878584	+	Missense_Mutation	SNP	A	A	T			TCGA-22-4595-01A-01D-1267-08	TCGA-22-4595-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7fcf5123-2d1b-4666-9d39-a1aaf63cf954	850e8a4d-e0f6-4bd6-80f5-1c20e2b0e4f9	g.chr1:185878584A>T	ENST00000271588.4	+	5	966	c.737A>T	c.(736-738)gAg>gTg	p.E246V	HMCN1_ENST00000367492.2_Missense_Mutation_p.E246V	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	246					response to stimulus (GO:0050896)|visual perception (GO:0007601)	basement membrane (GO:0005604)|cell cortex (GO:0005938)|cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)	p.E246V(1)		NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						AGCCTGAAAGAGGTCACTGTG	0.388																																						uc001grq.1																			1	Substitution - Missense(1)		lung(1)	ovary(22)|skin(1)	23						c.(736-738)GAG>GTG		hemicentin 1 precursor							112.0	105.0	107.0					1																	185878584		2203	4300	6503	SO:0001583	missense	83872				response to stimulus|visual perception	basement membrane	calcium ion binding	g.chr1:185878584A>T	AF156100	CCDS30956.1	1q25.3-q31.1	2013-01-11			ENSG00000143341	ENSG00000143341		"""Fibulins"", ""Immunoglobulin superfamily / I-set domain containing"""	19194	protein-coding gene	gene with protein product	"""fibulin 6"""	608548	"""age-related macular degeneration 1 (senile macular degeneration)"""	ARMD1		11222143	Standard	NM_031935		Approved	FBLN6, FIBL6, FIBL-6	uc001grq.1	Q96RW7	OTTHUMG00000059337	ENST00000271588.4:c.737A>T	1.37:g.185878584A>T	ENSP00000271588:p.Glu246Val						p.E246V	NM_031935	NP_114141	Q96RW7	HMCN1_HUMAN			5	966	+			246					A6NGE3|Q5TYR7|Q96DN3|Q96DN8|Q96SC3	Missense_Mutation	SNP	ENST00000271588.4	37	c.737A>T	CCDS30956.1	.	.	.	.	.	.	.	.	.	.	A	27.6	4.841755	0.91197	.	.	ENSG00000143341	ENST00000271588;ENST00000367492	T;T	0.67523	-0.27;-0.27	6.07	6.07	0.98685	.	0.000000	0.85682	D	0.000000	D	0.84005	0.5377	M	0.84846	2.72	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.86445	0.1769	10	0.87932	D	0	.	16.635	0.85050	1.0:0.0:0.0:0.0	.	246	Q96RW7	HMCN1_HUMAN	V	246	ENSP00000271588:E246V;ENSP00000356462:E246V	ENSP00000271588:E246V	E	+	2	0	HMCN1	184145207	1.000000	0.71417	1.000000	0.80357	0.910000	0.53928	9.307000	0.96226	2.330000	0.79161	0.477000	0.44152	GAG		PASS	0.388	HMCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131848.1	NM_031935		27	106	27	106	---	---	---	---
PRG4	10216	broad.mit.edu	37	1	186276615	186276615	+	Silent	SNP	T	T	C			TCGA-22-4595-01A-01D-1267-08	TCGA-22-4595-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7fcf5123-2d1b-4666-9d39-a1aaf63cf954	850e8a4d-e0f6-4bd6-80f5-1c20e2b0e4f9	g.chr1:186276615T>C	ENST00000445192.2	+	7	1809	c.1764T>C	c.(1762-1764)acT>acC	p.T588T	PRG4_ENST00000367485.4_Silent_p.T495T|PRG4_ENST00000367484.3_Intron|PRG4_ENST00000367486.3_Silent_p.T545T|PRG4_ENST00000367483.4_Silent_p.T547T	NM_005807.3	NP_005798.2	Q92954	PRG4_HUMAN	proteoglycan 4	588	59 X 8 AA repeats of K-X-P-X-P-T-T-X.				cell proliferation (GO:0008283)|hematopoietic stem cell proliferation (GO:0071425)|immune response (GO:0006955)|negative regulation of interleukin-6 biosynthetic process (GO:0045409)|regulation of cell proliferation (GO:0042127)	extracellular space (GO:0005615)	polysaccharide binding (GO:0030247)|scavenger receptor activity (GO:0005044)	p.T588T(3)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1)	102						CACCCACCACTCCCAAGGAAC	0.652																																						uc001gru.3																			3	Substitution - coding silent(3)		endometrium(2)|lung(1)	skin(1)	1						c.(1762-1764)ACT>ACC		proteoglycan 4 isoform A							95.0	91.0	93.0					1																	186276615		2203	4300	6503	SO:0001819	synonymous_variant	10216				cell proliferation|immune response	extracellular region	polysaccharide binding|protein binding|scavenger receptor activity	g.chr1:186276615T>C	U70136	CCDS1369.1, CCDS44287.1, CCDS44288.1	1q25-q31	2008-07-18	2004-11-15		ENSG00000116690	ENSG00000116690			9364	protein-coding gene	gene with protein product	"""lubricin"", ""megakaryocyte stimulating factor"", ""articular superficial zone protein"", ""Jacobs camptodactyly-arthropathy-pericarditis syndrome"", ""camptodactyly, arthropathy, coxa vara, pericarditis syndrome"", ""bG174L6.2 (MSF: megakaryocyte stimulating factor )"""	604283	"""proteoglycan 4, (megakaryocyte stimulating factor, articular superficial zone protein, camptodactyly, arthropathy, coxa vara, pericarditis syndrome)"""	CACP		10545950, 9920774	Standard	NM_005807		Approved	JCAP, SZP, MSF, HAPO, bG174L6.2, FLJ32635	uc001gru.4	Q92954	OTTHUMG00000035574	ENST00000445192.2:c.1764T>C	1.37:g.186276615T>C						PRG4_uc001grt.3_Silent_p.T547T|PRG4_uc009wyl.2_Silent_p.T495T|PRG4_uc009wym.2_Silent_p.T454T|PRG4_uc010poo.1_Intron	p.T588T	NM_005807	NP_005798	Q92954	PRG4_HUMAN			7	1815	+			588			59 X 8 AA repeats of K-X-P-X-P-T-T-X.|31.		Q6DNC4|Q6DNC5|Q6ZMZ5|Q9BX49	Silent	SNP	ENST00000445192.2	37	c.1764T>C	CCDS1369.1																																																																																				PASS	0.652	PRG4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000086346.1	NM_005807		7	95	7	95	---	---	---	---
F13B	2165	broad.mit.edu	37	1	197021954	197021954	+	Silent	SNP	A	A	G			TCGA-22-4595-01A-01D-1267-08	TCGA-22-4595-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7fcf5123-2d1b-4666-9d39-a1aaf63cf954	850e8a4d-e0f6-4bd6-80f5-1c20e2b0e4f9	g.chr1:197021954A>G	ENST00000367412.1	-	9	1408	c.1365T>C	c.(1363-1365)acT>acC	p.T455T	F13B_ENST00000490002.1_5'Flank	NM_001994.2	NP_001985.2	P05160	F13B_HUMAN	coagulation factor XIII, B polypeptide	455	Sushi 8. {ECO:0000255|PROSITE- ProRule:PRU00302}.				blood coagulation (GO:0007596)	extracellular region (GO:0005576)		p.T455T(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(5)|liver(1)|lung(40)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)	66						CCACATTAACAGTACATGGTT	0.264																																						uc001gtt.1																			1	Substitution - coding silent(1)		lung(1)	upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	3						c.(1363-1365)ACT>ACC		coagulation factor XIII B subunit precursor							81.0	83.0	82.0					1																	197021954		2203	4293	6496	SO:0001819	synonymous_variant	2165				blood coagulation	extracellular region		g.chr1:197021954A>G	M14057	CCDS1388.1	1q31-q32.1	2012-10-02			ENSG00000143278	ENSG00000143278			3534	protein-coding gene	gene with protein product		134580				2339067, 2271707	Standard	NM_001994		Approved	FXIIIB	uc001gtt.1	P05160	OTTHUMG00000036519	ENST00000367412.1:c.1365T>C	1.37:g.197021954A>G							p.T455T	NM_001994	NP_001985	P05160	F13B_HUMAN			9	1409	-			455			Sushi 8.		A8K3E5|Q5VYL5	Silent	SNP	ENST00000367412.1	37	c.1365T>C	CCDS1388.1																																																																																				PASS	0.264	F13B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088821.2	NM_001994		13	45	13	45	---	---	---	---
VASH2	79805	broad.mit.edu	37	1	213147329	213147329	+	Silent	SNP	C	C	A			TCGA-22-4595-01A-01D-1267-08	TCGA-22-4595-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7fcf5123-2d1b-4666-9d39-a1aaf63cf954	850e8a4d-e0f6-4bd6-80f5-1c20e2b0e4f9	g.chr1:213147329C>A	ENST00000517399.1	+	6	912	c.912C>A	c.(910-912)acC>acA	p.T304T	VASH2_ENST00000366968.4_Silent_p.T239T|VASH2_ENST00000271776.4_3'UTR|VASH2_ENST00000366967.2_Silent_p.T200T|VASH2_ENST00000366965.2_Silent_p.T260T|VASH2_ENST00000366966.2_Silent_p.T239T			Q86V25	VASH2_HUMAN	vasohibin 2	304					positive regulation of angiogenesis (GO:0045766)|positive regulation of endothelial cell proliferation (GO:0001938)	cytoplasm (GO:0005737)		p.T239T(1)|p.T260T(1)		endometrium(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	7				OV - Ovarian serous cystadenocarcinoma(81;0.00479)|all cancers(67;0.00844)|GBM - Glioblastoma multiforme(131;0.0496)|Epithelial(68;0.0986)		ACTCTCCGACCCAAGTGAGAA	0.567																																						uc001hjy.2																			2	Substitution - coding silent(2)		lung(2)		0						c.(910-912)ACC>ACA		vasohibin 2 isoform 3							51.0	59.0	56.0					1																	213147329		2203	4300	6503	SO:0001819	synonymous_variant	79805				positive regulation of angiogenesis|positive regulation of endothelial cell proliferation	cytoplasm		g.chr1:213147329C>A	AK022567	CCDS1511.1, CCDS44315.1, CCDS44316.1, CCDS73026.1	1q23	2008-02-05			ENSG00000143494	ENSG00000143494			25723	protein-coding gene	gene with protein product		610471				16528006	Standard	XR_247041		Approved	FLJ12505	uc001hjw.3	Q86V25	OTTHUMG00000036925	ENST00000517399.1:c.912C>A	1.37:g.213147329C>A						VASH2_uc001hjv.2_RNA|VASH2_uc001hjx.2_Silent_p.T239T|VASH2_uc010ptn.1_Silent_p.T200T|VASH2_uc001hjw.2_Silent_p.T260T	p.T304T	NM_001136475	NP_001129947	Q86V25	VASH2_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.00479)|all cancers(67;0.00844)|GBM - Glioblastoma multiforme(131;0.0496)|Epithelial(68;0.0986)	6	1116	+			304					B4DYZ5|Q2VT46|Q5VTE7|Q5VTE9|Q7Z6E3|Q8IZ24|Q9H9W5	Silent	SNP	ENST00000517399.1	37	c.912C>A	CCDS1511.1																																																																																				PASS	0.567	VASH2-013	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381686.1	NM_024749		15	45	15	45	---	---	---	---
USH2A	7399	broad.mit.edu	37	1	216011388	216011388	+	Missense_Mutation	SNP	C	C	A			TCGA-22-4595-01A-01D-1267-08	TCGA-22-4595-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7fcf5123-2d1b-4666-9d39-a1aaf63cf954	850e8a4d-e0f6-4bd6-80f5-1c20e2b0e4f9	g.chr1:216011388C>A	ENST00000307340.3	-	47	9702	c.9316G>T	c.(9316-9318)Gtg>Ttg	p.V3106L	USH2A_ENST00000366943.2_Missense_Mutation_p.V3106L	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	3106	Fibronectin type-III 17. {ECO:0000255|PROSITE-ProRule:PRU00316}.				hair cell differentiation (GO:0035315)|inner ear receptor cell differentiation (GO:0060113)|maintenance of organ identity (GO:0048496)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|stereocilia ankle link complex (GO:0002142)|stereocilium bundle (GO:0032421)|stereocilium membrane (GO:0060171)	collagen binding (GO:0005518)|myosin binding (GO:0017022)	p.V3106L(1)		NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		GTGTCTTCCACAGTGGTAATT	0.373										HNSCC(13;0.011)																												uc001hku.1																			1	Substitution - Missense(1)		lung(1)	ovary(20)|upper_aerodigestive_tract(2)|skin(2)|kidney(1)|central_nervous_system(1)	26						c.(9316-9318)GTG>TTG		usherin isoform B							244.0	221.0	229.0					1																	216011388		2203	4300	6503	SO:0001583	missense	7399				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding	g.chr1:216011388C>A	AF055580	CCDS1516.1, CCDS31025.1	1q41	2013-02-11			ENSG00000042781	ENSG00000042781		"""Fibronectin type III domain containing"""	12601	protein-coding gene	gene with protein product	"""usherin"""	608400		USH2		9624053, 10729113	Standard	NM_007123		Approved	RP39	uc001hku.1	O75445	OTTHUMG00000037079	ENST00000307340.3:c.9316G>T	1.37:g.216011388C>A	ENSP00000305941:p.Val3106Leu	HNSCC(13;0.011)					p.V3106L	NM_206933	NP_996816	O75445	USH2A_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)	47	9703	-			3106			Extracellular (Potential).		Q5VVM9|Q6S362|Q9NS27	Missense_Mutation	SNP	ENST00000307340.3	37	c.9316G>T	CCDS31025.1	.	.	.	.	.	.	.	.	.	.	C	9.539	1.112903	0.20795	.	.	ENSG00000042781	ENST00000307340;ENST00000366943	T;T	0.49432	0.78;0.78	5.01	2.13	0.27403	Fibronectin, type III (1);Immunoglobulin-like fold (1);	0.173729	0.26983	N	0.021514	T	0.28366	0.0701	N	0.19112	0.55	0.31609	N	0.651809	B	0.18741	0.03	B	0.15484	0.013	T	0.24621	-1.0155	10	0.18276	T	0.48	.	10.0312	0.42101	0.0:0.7769:0.0:0.2231	.	3106	O75445	USH2A_HUMAN	L	3106	ENSP00000305941:V3106L;ENSP00000355910:V3106L	ENSP00000305941:V3106L	V	-	1	0	USH2A	214078011	0.951000	0.32395	0.570000	0.28473	0.373000	0.29922	2.115000	0.41921	0.174000	0.19809	0.655000	0.94253	GTG		PASS	0.373	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128138.1	NM_007123		65	185	65	185	---	---	---	---
CCDC185	164127	broad.mit.edu	37	1	223567978	223567978	+	Silent	SNP	G	G	C			TCGA-22-4595-01A-01D-1267-08	TCGA-22-4595-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7fcf5123-2d1b-4666-9d39-a1aaf63cf954	850e8a4d-e0f6-4bd6-80f5-1c20e2b0e4f9	g.chr1:223567978G>C	ENST00000366875.3	+	1	1264	c.1161G>C	c.(1159-1161)cgG>cgC	p.R387R		NM_152610.2	NP_689823.2	Q8N715	CC185_HUMAN		387								p.R387R(1)		breast(4)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|skin(3)	29				GBM - Glioblastoma multiforme(131;0.0704)		AGATGCTACGGAACCTCCGGG	0.662																																						uc001hoa.2																			1	Substitution - coding silent(1)		lung(1)	central_nervous_system(1)|skin(1)	2						c.(1159-1161)CGG>CGC		hypothetical protein LOC164127							24.0	27.0	26.0					1																	223567978		2202	4296	6498	SO:0001819	synonymous_variant	164127							g.chr1:223567978G>C																												ENST00000366875.3:c.1161G>C	1.37:g.223567978G>C							p.R387R	NM_152610	NP_689823	Q8N715	CA065_HUMAN		GBM - Glioblastoma multiforme(131;0.0704)	1	1264	+			387			Potential.		Q8N746|Q8NA93	Silent	SNP	ENST00000366875.3	37	c.1161G>C	CCDS1537.1																																																																																				PASS	0.662	C1orf65-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092718.1			13	29	13	29	---	---	---	---
RYR2	6262	broad.mit.edu	37	1	237919660	237919660	+	Missense_Mutation	SNP	G	G	A	rs536555602		TCGA-22-4595-01A-01D-1267-08	TCGA-22-4595-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7fcf5123-2d1b-4666-9d39-a1aaf63cf954	850e8a4d-e0f6-4bd6-80f5-1c20e2b0e4f9	g.chr1:237919660G>A	ENST00000366574.2	+	81	11535	c.11218G>A	c.(11218-11220)Gtg>Atg	p.V3740M	RYR2_ENST00000360064.6_Missense_Mutation_p.V3746M|RYR2_ENST00000609119.1_3'UTR|RYR2_ENST00000542537.1_Missense_Mutation_p.V3724M	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	3740					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.V3738M(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)			GGCTGAGATGGTGCTACAGAC	0.483																																						uc001hyl.1																			1	Substitution - Missense(1)		lung(1)	ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1)	33						c.(11218-11220)GTG>ATG		cardiac muscle ryanodine receptor							97.0	101.0	99.0					1																	237919660		1970	4169	6139	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.chr1:237919660G>A	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.11218G>A	1.37:g.237919660G>A	ENSP00000355533:p.Val3740Met					RYR2_uc010pya.1_Missense_Mutation_p.V155M	p.V3740M	NM_001035	NP_001026	Q92736	RYR2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00606)		81	11338	+	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	3740					Q15411|Q546N8|Q5T3P2	Missense_Mutation	SNP	ENST00000366574.2	37	c.11218G>A	CCDS55691.1	.	.	.	.	.	.	.	.	.	.	G	12.48	1.950949	0.34471	.	.	ENSG00000198626	ENST00000366574;ENST00000360064;ENST00000542537;ENST00000542288	D;D;D	0.94000	-3.33;-3.33;-3.33	5.44	5.44	0.79542	.	0.000000	0.53938	U	0.000058	D	0.96956	0.9006	M	0.82630	2.6	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.997;0.998	D	0.97280	0.9917	10	0.87932	D	0	.	18.6247	0.91333	0.0:0.0:1.0:0.0	.	714;3740	B4DGV4;Q92736	.;RYR2_HUMAN	M	3740;3746;3724;714	ENSP00000355533:V3740M;ENSP00000353174:V3746M;ENSP00000443798:V3724M	ENSP00000353174:V3746M	V	+	1	0	RYR2	235986283	1.000000	0.71417	0.998000	0.56505	0.105000	0.19272	9.813000	0.99286	2.717000	0.92951	0.563000	0.77884	GTG		PASS	0.483	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2	NM_001035		16	39	16	39	---	---	---	---
FMN2	56776	broad.mit.edu	37	1	240371821	240371821	+	Silent	SNP	C	C	T	rs111521184	byFrequency	TCGA-22-4595-01A-01D-1267-08	TCGA-22-4595-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7fcf5123-2d1b-4666-9d39-a1aaf63cf954	850e8a4d-e0f6-4bd6-80f5-1c20e2b0e4f9	g.chr1:240371821C>T	ENST00000319653.9	+	5	3939	c.3709C>T	c.(3709-3711)Ctg>Ttg	p.L1237L		NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	1237	FH1.|Pro-rich.				cellular response to DNA damage stimulus (GO:0006974)|cellular response to hypoxia (GO:0071456)|establishment of meiotic spindle localization (GO:0051295)|formin-nucleated actin cable assembly (GO:0070649)|homologous chromosome movement towards spindle pole involved in homologous chromosome segregation (GO:0051758)|intracellular signal transduction (GO:0035556)|intracellular transport (GO:0046907)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of protein catabolic process (GO:0042177)|oogenesis (GO:0048477)|polar body extrusion after meiotic divisions (GO:0040038)|protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	cell cortex (GO:0005938)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|microvillus (GO:0005902)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)|spindle (GO:0005819)	actin binding (GO:0003779)	p.L1380L(1)		NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			ACCGCCCCCTCTGCTTCCTGT	0.602																																						uc010pyd.1																			1	Substitution - coding silent(1)		lung(1)	ovary(4)|pancreas(3)|skin(3)|large_intestine(1)|central_nervous_system(1)	12						c.(3709-3711)CTG>TTG		formin 2							38.0	36.0	37.0					1																	240371821		2201	4300	6501	SO:0001819	synonymous_variant	56776				actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions		actin binding	g.chr1:240371821C>T	AF218942	CCDS31069.2	1q43	2008-02-05			ENSG00000155816	ENSG00000155816			14074	protein-coding gene	gene with protein product		606373				10781961	Standard	NM_020066		Approved		uc010pyd.2	Q9NZ56	OTTHUMG00000039883	ENST00000319653.9:c.3709C>T	1.37:g.240371821C>T						FMN2_uc010pye.1_Silent_p.L1241L	p.L1237L	NM_020066	NP_064450	Q9NZ56	FMN2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0106)		5	3934	+	Ovarian(103;0.127)	all_cancers(173;0.013)	1237			Pro-rich.|FH1.		B0QZA7|B4DP05|Q59GF6|Q5VU37|Q9NZ55	Silent	SNP	ENST00000319653.9	37	c.3709C>T	CCDS31069.2																																																																																				PASS	0.602	FMN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096217.2	XM_371352		19	53	19	53	---	---	---	---
RGS7	6000	broad.mit.edu	37	1	241146382	241146382	+	Missense_Mutation	SNP	G	G	C			TCGA-22-4595-01A-01D-1267-08	TCGA-22-4595-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7fcf5123-2d1b-4666-9d39-a1aaf63cf954	850e8a4d-e0f6-4bd6-80f5-1c20e2b0e4f9	g.chr1:241146382G>C	ENST00000407727.1	-	3	222	c.223C>G	c.(223-225)Cca>Gca	p.P75A	RGS7_ENST00000401882.1_Missense_Mutation_p.P75A|RGS7_ENST00000446183.2_De_novo_Start_OutOfFrame|RGS7_ENST00000366563.1_Missense_Mutation_p.P75A|RGS7_ENST00000366565.1_Missense_Mutation_p.P75A|RGS7_ENST00000366564.1_Missense_Mutation_p.P75A|RGS7_ENST00000331110.7_Missense_Mutation_p.P49A|RGS7_ENST00000366562.4_Missense_Mutation_p.P75A|RGS7_ENST00000348120.2_Missense_Mutation_p.P75A			P49802	RGS7_HUMAN	regulator of G-protein signaling 7	75	DEP. {ECO:0000255|PROSITE- ProRule:PRU00066}.				G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)|positive regulation of GTPase activity (GO:0043547)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite terminus (GO:0044292)|heterotrimeric G-protein complex (GO:0005834)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	G-protein beta-subunit binding (GO:0031681)|GTPase activator activity (GO:0005096)|signal transducer activity (GO:0004871)	p.P75A(2)		breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(51)|ovary(4)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	76		all_cancers(173;0.0131)	OV - Ovarian serous cystadenocarcinoma(106;0.027)			TATTTACCTGGATCTTCTATA	0.299																																						uc001hyv.2																			2	Substitution - Missense(2)		lung(2)	ovary(4)|skin(2)|kidney(1)	7						c.(223-225)CCA>GCA		regulator of G-protein signaling 7							50.0	50.0	50.0					1																	241146382		2197	4292	6489	SO:0001583	missense	6000				G-protein coupled receptor protein signaling pathway|intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway	cytoplasm|heterotrimeric G-protein complex	GTPase activator activity|protein binding|signal transducer activity	g.chr1:241146382G>C	BC022009	CCDS31071.1, CCDS60457.1, CCDS60458.1, CCDS60459.1	1q43	2008-02-05	2007-08-14		ENSG00000182901	ENSG00000182901		"""Regulators of G-protein signaling"""	10003	protein-coding gene	gene with protein product		602517	"""regulator of G-protein signalling 7"""			8548815	Standard	XM_005273218		Approved		uc001hyv.2	P49802	OTTHUMG00000040107	ENST00000407727.1:c.223C>G	1.37:g.241146382G>C	ENSP00000384428:p.Pro75Ala					RGS7_uc010pyh.1_Missense_Mutation_p.P49A|RGS7_uc010pyj.1_Translation_Start_Site|RGS7_uc001hyu.2_Missense_Mutation_p.P75A|RGS7_uc009xgn.1_Missense_Mutation_p.P75A|RGS7_uc001hyw.2_Missense_Mutation_p.P75A	p.P75A	NM_002924	NP_002915	P49802	RGS7_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.027)		4	553	-		all_cancers(173;0.0131)	75			DEP.		Q5T3H4|Q8TD66|Q8TD67|Q8WW09|Q9UNU7|Q9Y6B9	Missense_Mutation	SNP	ENST00000407727.1	37	c.223C>G		.	.	.	.	.	.	.	.	.	.	G	7.541	0.660680	0.14645	.	.	ENSG00000182901	ENST00000331110;ENST00000366565;ENST00000366564;ENST00000366563;ENST00000348120;ENST00000366562;ENST00000407727;ENST00000401882	T;T;T;T;T;T;T;T	0.21191	2.02;2.02;2.02;2.02;2.02;2.02;2.02;2.02	4.27	4.27	0.50696	.	0.194121	0.46442	D	0.000292	T	0.15132	0.0365	L	0.27053	0.805	0.80722	D	1	B;B;B;B;B	0.20261	0.006;0.043;0.0;0.01;0.005	B;B;B;B;B	0.27887	0.012;0.084;0.003;0.042;0.005	T	0.07616	-1.0763	10	0.16420	T	0.52	.	12.3802	0.55303	0.0:0.0:1.0:0.0	.	49;75;75;75;75	B7Z257;P49802-4;P49802-2;P49802-5;P49802-3	.;.;.;.;.	A	49;75;75;75;75;75;75;75	ENSP00000331485:P49A;ENSP00000355523:P75A;ENSP00000355522:P75A;ENSP00000355521:P75A;ENSP00000341242:P75A;ENSP00000355520:P75A;ENSP00000384428:P75A;ENSP00000385508:P75A	ENSP00000331485:P49A	P	-	1	0	RGS7	239213005	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	4.686000	0.61700	2.374000	0.81015	0.650000	0.86243	CCA		PASS	0.299	RGS7-204	KNOWN	basic	protein_coding	protein_coding		NM_002924		8	15	8	15	---	---	---	---
DDX1	1653	broad.mit.edu	37	2	15770167	15770167	+	Silent	SNP	G	G	T			TCGA-22-4595-01A-01D-1267-08	TCGA-22-4595-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7fcf5123-2d1b-4666-9d39-a1aaf63cf954	850e8a4d-e0f6-4bd6-80f5-1c20e2b0e4f9	g.chr2:15770167G>T	ENST00000381341.2	+	26	2414	c.2025G>T	c.(2023-2025)ccG>ccT	p.P675P	DDX1_ENST00000233084.3_Silent_p.P675P			Q92499	DDX1_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 1	675	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.|Necessary for interaction with HNRNPK.				ATP catabolic process (GO:0006200)|DNA duplex unwinding (GO:0032508)|double-strand break repair (GO:0006302)|multicellular organismal development (GO:0007275)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|regulation of transcription, DNA-templated (GO:0006355)|regulation of translational initiation (GO:0006446)|response to exogenous dsRNA (GO:0043330)|response to virus (GO:0009615)|spliceosomal complex assembly (GO:0000245)|transcription, DNA-templated (GO:0006351)|tRNA splicing, via endonucleolytic cleavage and ligation (GO:0006388)	cleavage body (GO:0071920)|cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|membrane (GO:0016020)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|tRNA-splicing ligase complex (GO:0072669)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA/RNA helicase activity (GO:0033677)|double-stranded RNA binding (GO:0003725)|exonuclease activity (GO:0004527)|nuclease activity (GO:0004518)|poly(A) binding (GO:0008143)|poly(A) RNA binding (GO:0044822)|RNA helicase activity (GO:0003724)|transcription cofactor activity (GO:0003712)	p.P675P(1)		autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(13)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	29	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.197)	all_epithelial(98;2.96e-07)|Acute lymphoblastic leukemia(84;4.24e-05)|Ovarian(717;0.0694)	GBM - Glioblastoma multiforme(3;0.00969)	Epithelial(75;4.35e-05)|OV - Ovarian serous cystadenocarcinoma(76;0.133)		AGGTTGAGCCGGATATAAAGG	0.343																																						uc002rce.2																			1	Substitution - coding silent(1)		lung(1)	central_nervous_system(2)|upper_aerodigestive_tract(1)|ovary(1)	4						c.(2023-2025)CCG>CCT		DEAD (Asp-Glu-Ala-Asp) box polypeptide 1							96.0	102.0	100.0					2																	15770167		2203	4300	6503	SO:0001819	synonymous_variant	1653				DNA duplex unwinding|double-strand break repair|multicellular organismal development|regulation of transcription, DNA-dependent|regulation of translational initiation|spliceosome assembly|transcription, DNA-dependent	cleavage body|stress granule|tRNA-splicing ligase complex	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding|DNA/RNA helicase activity|exonuclease activity|poly(A) RNA binding|protein binding|RNA helicase activity|transcription cofactor activity	g.chr2:15770167G>T	X70649	CCDS1686.1	2p24	2012-02-23	2012-02-23		ENSG00000079785	ENSG00000079785		"""DEAD-boxes"""	2734	protein-coding gene	gene with protein product		601257	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 1"", ""DEAD (Asp-Glu-Ala-Asp) box polypeptide 1"""			1552844, 19058135	Standard	NM_004939		Approved	DBP-RB	uc002rce.4	Q92499	OTTHUMG00000090593	ENST00000381341.2:c.2025G>T	2.37:g.15770167G>T							p.P675P	NM_004939	NP_004930	Q92499	DDX1_HUMAN	GBM - Glioblastoma multiforme(3;0.00969)	Epithelial(75;4.35e-05)|OV - Ovarian serous cystadenocarcinoma(76;0.133)	25	2313	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.197)	all_epithelial(98;2.96e-07)|Acute lymphoblastic leukemia(84;4.24e-05)|Ovarian(717;0.0694)	675			Helicase C-terminal.|Necessary for interaction with HNRNPK.		B4DME8|B4DPN6	Silent	SNP	ENST00000381341.2	37	c.2025G>T	CCDS1686.1																																																																																				PASS	0.343	DDX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207141.2	NM_004939		74	187	74	187	---	---	---	---
FAM49A	81553	broad.mit.edu	37	2	16740833	16740833	+	Silent	SNP	C	C	T	rs375699408		TCGA-22-4595-01A-01D-1267-08	TCGA-22-4595-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7fcf5123-2d1b-4666-9d39-a1aaf63cf954	850e8a4d-e0f6-4bd6-80f5-1c20e2b0e4f9	g.chr2:16740833C>T	ENST00000381323.3	-	10	952	c.732G>A	c.(730-732)acG>acA	p.T244T	FAM49A_ENST00000406434.1_Silent_p.T244T|FAM49A_ENST00000355549.2_Silent_p.T244T	NM_030797.3	NP_110424.1	Q9H0Q0	FA49A_HUMAN	family with sequence similarity 49, member A	244						intracellular (GO:0005622)		p.T244T(1)		breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|skin(3)|upper_aerodigestive_tract(1)	23	Acute lymphoblastic leukemia(172;0.0734)|all_hematologic(175;0.088)		GBM - Glioblastoma multiforme(3;0.00969)			TCTCTTCACTCGTAAACCTAC	0.493																																						uc010exm.1																			1	Substitution - coding silent(1)		lung(1)		0						c.(730-732)ACG>ACA		family with sequence similarity 49, member A		C		0,4406		0,0,2203	146.0	133.0	137.0		732	-10.7	0.0	2		137	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	FAM49A	NM_030797.3		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		244/324	16740833	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	81553					intracellular		g.chr2:16740833C>T	AK001942	CCDS1688.1	2p24.3	2008-02-05			ENSG00000197872	ENSG00000197872			25373	protein-coding gene	gene with protein product							Standard	NM_030797		Approved	DKFZP566A1524, FLJ11080	uc002rck.2	Q9H0Q0	OTTHUMG00000090615	ENST00000381323.3:c.732G>A	2.37:g.16740833C>T						FAM49A_uc002rck.1_Silent_p.T244T	p.T244T	NM_030797	NP_110424	Q9H0Q0	FA49A_HUMAN	GBM - Glioblastoma multiforme(3;0.00969)		9	880	-	Acute lymphoblastic leukemia(172;0.0734)|all_hematologic(175;0.088)		244					B3KNZ1|Q53QW2	Silent	SNP	ENST00000381323.3	37	c.732G>A	CCDS1688.1																																																																																				PASS	0.493	FAM49A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207203.2	NM_030797		49	226	49	226	---	---	---	---
C2orf44	80304	broad.mit.edu	37	2	24261359	24261359	+	Missense_Mutation	SNP	T	T	C			TCGA-22-4595-01A-01D-1267-08	TCGA-22-4595-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7fcf5123-2d1b-4666-9d39-a1aaf63cf954	850e8a4d-e0f6-4bd6-80f5-1c20e2b0e4f9	g.chr2:24261359T>C	ENST00000295148.4	-	2	1063	c.1006A>G	c.(1006-1008)Att>Gtt	p.I336V	C2orf44_ENST00000406895.3_Missense_Mutation_p.I336V	NM_025203.2	NP_079479.1	Q9H6R7	CB044_HUMAN	chromosome 2 open reading frame 44	336								p.I336V(1)	C2orf44/ALK(2)	breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(7)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	24	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					ATGCCTGGAATAGTGACTTTT	0.403			T	ALK	NSCLC																																	uc002rep.2				Dom	yes		2	2p23.3	80304		chromosome 2 open reading frame 44			E					1	Substitution - Missense(1)		lung(1)	ovary(1)|breast(1)	2						c.(1006-1008)ATT>GTT		hypothetical protein LOC80304 isoform 1							60.0	57.0	58.0					2																	24261359		2203	4300	6503	SO:0001583	missense	80304						protein binding	g.chr2:24261359T>C	AK025598	CCDS1705.1, CCDS46229.1	2p23.3	2012-07-30			ENSG00000163026	ENSG00000163026			26157	protein-coding gene	gene with protein product						22327622	Standard	NM_025203		Approved	FLJ21945	uc002rep.2	Q9H6R7	OTTHUMG00000125498	ENST00000295148.4:c.1006A>G	2.37:g.24261359T>C	ENSP00000295148:p.Ile336Val					C2orf44_uc010eya.2_Missense_Mutation_p.I336V	p.I336V	NM_025203	NP_079479	Q9H6R7	CB044_HUMAN			2	1137	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		336					D6W532|Q8IYK0|Q9HBP5	Missense_Mutation	SNP	ENST00000295148.4	37	c.1006A>G	CCDS1705.1	.	.	.	.	.	.	.	.	.	.	T	12.73	2.026036	0.35701	.	.	ENSG00000163026	ENST00000295148;ENST00000406895	T;T	0.54479	0.57;0.57	5.38	1.48	0.22813	WD40/YVTN repeat-like-containing domain (1);	0.095218	0.64402	N	0.000001	T	0.47691	0.1459	M	0.76328	2.33	0.45554	D	0.998506	B;B	0.31193	0.096;0.312	B;B	0.29524	0.103;0.103	T	0.42916	-0.9423	10	0.87932	D	0	-12.3763	6.8589	0.24056	0.0:0.1343:0.1266:0.7391	.	336;336	Q9H6R7-2;Q9H6R7	.;CB044_HUMAN	V	336	ENSP00000295148:I336V;ENSP00000385816:I336V	ENSP00000295148:I336V	I	-	1	0	C2orf44	24114863	1.000000	0.71417	0.179000	0.23059	0.951000	0.60555	3.252000	0.51461	0.078000	0.16900	0.533000	0.62120	ATT		PASS	0.403	C2orf44-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000246825.1	NM_025203		82	155	82	155	---	---	---	---
ASXL2	55252	broad.mit.edu	37	2	25965964	25965964	+	Missense_Mutation	SNP	G	G	A			TCGA-22-4595-01A-01D-1267-08	TCGA-22-4595-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7fcf5123-2d1b-4666-9d39-a1aaf63cf954	850e8a4d-e0f6-4bd6-80f5-1c20e2b0e4f9	g.chr2:25965964G>A	ENST00000435504.4	-	13	3535	c.3242C>T	c.(3241-3243)tCa>tTa	p.S1081L	ASXL2_ENST00000404843.1_Intron|ASXL2_ENST00000272341.4_Intron|ASXL2_ENST00000336112.4_Missense_Mutation_p.S1053L			Q76L83	ASXL2_HUMAN	additional sex combs like transcriptional regulator 2	1081					adult heart development (GO:0007512)|embryonic skeletal system morphogenesis (GO:0048704)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of bone mineralization involved in bone maturation (GO:1900159)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of histone H3-K27 trimethylation (GO:1902466)|positive regulation of osteoclast differentiation (GO:0045672)|positive regulation of peroxisome proliferator activated receptor signaling pathway (GO:0035360)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nuclear chromatin (GO:0000790)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|peroxisome proliferator activated receptor binding (GO:0042975)	p.S1081L(2)		NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(7)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(3)	33	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CGGCACAACTGAGAGAAGATT	0.502																																						uc002rgs.2																			2	Substitution - Missense(2)		lung(2)	pancreas(1)	1						c.(3241-3243)TCA>TTA		additional sex combs like 2							140.0	136.0	137.0					2																	25965964		1974	4160	6134	SO:0001583	missense	55252				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|protein binding	g.chr2:25965964G>A			2p24.1	2014-06-17	2014-06-17		ENSG00000143970	ENSG00000143970			23805	protein-coding gene	gene with protein product		612991	"""additional sex combs like 2 (Drosophila)"""			12888926	Standard	NM_018263		Approved	ASXH2, FLJ10898, KIAA1685	uc002rgs.2	Q76L83	OTTHUMG00000152176	ENST00000435504.4:c.3242C>T	2.37:g.25965964G>A	ENSP00000391447:p.Ser1081Leu					ASXL2_uc002rgt.1_Intron	p.S1081L	NM_018263	NP_060733	Q76L83	ASXL2_HUMAN			12	3463	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		1081					Q53TC9|Q5H9U4|Q76L81|Q86XM1|Q9C0H8|Q9NV67	Missense_Mutation	SNP	ENST00000435504.4	37	c.3242C>T		.	.	.	.	.	.	.	.	.	.	G	8.890	0.953838	0.18431	.	.	ENSG00000143970	ENST00000435504;ENST00000336112	T;T	0.25085	1.82;1.82	6.07	6.07	0.98685	.	0.643074	0.17142	N	0.185385	T	0.35624	0.0938	M	0.66939	2.045	0.32977	D	0.52308	P	0.43094	0.799	B	0.40901	0.343	T	0.51020	-0.8758	10	0.87932	D	0	-1.3109	19.2077	0.93739	0.0:0.0:1.0:0.0	.	1081	Q76L83	ASXL2_HUMAN	L	1081;1053	ENSP00000391447:S1081L;ENSP00000337250:S1053L	ENSP00000337250:S1053L	S	-	2	0	ASXL2	25819468	0.996000	0.38824	0.010000	0.14722	0.676000	0.39594	6.505000	0.73708	2.884000	0.98904	0.655000	0.94253	TCA		PASS	0.502	ASXL2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000325593.3	NM_018263		90	330	90	330	---	---	---	---
KCNK12	56660	broad.mit.edu	37	2	47748348	47748348	+	Silent	SNP	G	G	T			TCGA-22-4595-01A-01D-1267-08	TCGA-22-4595-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7fcf5123-2d1b-4666-9d39-a1aaf63cf954	850e8a4d-e0f6-4bd6-80f5-1c20e2b0e4f9	g.chr2:47748348G>T	ENST00000327876.4	-	2	1598	c.991C>A	c.(991-993)Cgg>Agg	p.R331R	MSH2_ENST00000461394.1_Intron	NM_022055.1	NP_071338.1	Q9HB15	KCNKC_HUMAN	potassium channel, subfamily K, member 12	331						integral component of membrane (GO:0016021)	potassium channel activity (GO:0005267)|voltage-gated ion channel activity (GO:0005244)	p.0?(2)|p.?(2)|p.R331R(1)		NS(1)|endometrium(1)|lung(3)|ovary(1)	6		all_hematologic(82;0.0495)|Acute lymphoblastic leukemia(82;0.175)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			GCATTGCGCCGGGCCAGGGGC	0.756																																						uc002rwb.2																			5	Whole gene deletion(2)|Unknown(2)|Substitution - coding silent(1)		haematopoietic_and_lymphoid_tissue(3)|lung(1)|prostate(1)	ovary(1)	1						c.(991-993)CGG>AGG		potassium channel, subfamily K, member 12							8.0	9.0	9.0					2																	47748348		2136	4133	6269	SO:0001819	synonymous_variant	56660					integral to membrane	potassium channel activity|voltage-gated ion channel activity	g.chr2:47748348G>T	AF287302	CCDS1835.1	2p16.3	2012-03-07			ENSG00000184261	ENSG00000184261		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Two-P"""	6274	protein-coding gene	gene with protein product		607366				11060316	Standard	NM_022055		Approved	THIK-2, THIK2, K2p12.1	uc002rwb.3	Q9HB15	OTTHUMG00000129131	ENST00000327876.4:c.991C>A	2.37:g.47748348G>T						MSH2_uc002rvz.2_Intron	p.R331R	NM_022055	NP_071338	Q9HB15	KCNKC_HUMAN	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		2	991	-		all_hematologic(82;0.0495)|Acute lymphoblastic leukemia(82;0.175)	331			Cytoplasmic (Potential).			Silent	SNP	ENST00000327876.4	37	c.991C>A	CCDS1835.1																																																																																				PASS	0.756	KCNK12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251182.2	NM_022055		6	12	6	12	---	---	---	---
NRXN1	9378	broad.mit.edu	37	2	50847250	50847250	+	Silent	SNP	A	A	T			TCGA-22-4595-01A-01D-1267-08	TCGA-22-4595-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7fcf5123-2d1b-4666-9d39-a1aaf63cf954	850e8a4d-e0f6-4bd6-80f5-1c20e2b0e4f9	g.chr2:50847250A>T	ENST00000406316.2	-	8	2706	c.1230T>A	c.(1228-1230)tcT>tcA	p.S410S	NRXN1_ENST00000331040.5_5'UTR|NRXN1_ENST00000401669.2_Silent_p.S410S|NRXN1_ENST00000402717.3_Silent_p.S402S|NRXN1_ENST00000405472.3_Silent_p.S402S|NRXN1_ENST00000406859.3_Silent_p.S410S|NRXN1_ENST00000404971.1_Silent_p.S450S	NM_004801.4	NP_004792.1	Q9ULB1	NRX1A_HUMAN	neurexin 1	410	Laminin G-like 2. {ECO:0000255|PROSITE- ProRule:PRU00122}.				adult behavior (GO:0030534)|axon guidance (GO:0007411)|calcium-dependent cell-cell adhesion (GO:0016339)|cerebellar granule cell differentiation (GO:0021707)|establishment of protein localization (GO:0045184)|extracellular matrix organization (GO:0030198)|gamma-aminobutyric acid receptor clustering (GO:0097112)|gephyrin clustering (GO:0097116)|guanylate kinase-associated protein clustering (GO:0097117)|heterophilic cell-cell adhesion (GO:0007157)|learning (GO:0007612)|N-methyl-D-aspartate receptor clustering (GO:0097114)|negative regulation of filopodium assembly (GO:0051490)|neuroligin clustering (GO:0097118)|neuromuscular process controlling balance (GO:0050885)|neuron cell-cell adhesion (GO:0007158)|neuron maturation (GO:0042551)|neurotransmitter secretion (GO:0007269)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of synapse assembly (GO:0051965)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|postsynaptic density protein 95 clustering (GO:0097119)|postsynaptic membrane assembly (GO:0097104)|presynaptic membrane assembly (GO:0097105)|receptor localization to synapse (GO:0097120)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)|synaptic vesicle clustering (GO:0097091)|vocal learning (GO:0042297)|vocalization behavior (GO:0071625)	axonal growth cone (GO:0044295)|cell junction (GO:0030054)|cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)	acetylcholine receptor binding (GO:0033130)|calcium channel regulator activity (GO:0005246)|calcium ion binding (GO:0005509)|cell adhesion molecule binding (GO:0050839)|neuroligin family protein binding (GO:0097109)|receptor activity (GO:0004872)	p.S410S(1)|p.S450S(1)|p.S451S(1)		breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			AAAAGTCATCAGACCCCAGCA	0.473																																						uc010fbq.2																			3	Substitution - coding silent(3)		lung(3)	ovary(2)	2						c.(1348-1350)TCT>TCA		neurexin 1 isoform alpha2 precursor							67.0	68.0	68.0					2																	50847250		2039	4223	6262	SO:0001819	synonymous_variant	9378				angiogenesis|neuron cell-cell adhesion|neuronal signal transduction	cell surface|endocytic vesicle|integral to membrane|presynaptic membrane	cell adhesion molecule binding|receptor binding	g.chr2:50847250A>T	AB011150	CCDS1845.1, CCDS46282.1, CCDS54360.1	2p16.3	2008-05-15			ENSG00000179915	ENSG00000179915			8008	protein-coding gene	gene with protein product		600565					Standard	NM_001135659		Approved	KIAA0578, Hs.22998	uc021vhj.1	P58400	OTTHUMG00000129263	ENST00000406316.2:c.1230T>A	2.37:g.50847250A>T						NRXN1_uc002rxb.3_Silent_p.S82S|NRXN1_uc002rxe.3_Silent_p.S410S|NRXN1_uc002rxc.1_RNA	p.S450S	NM_001135659	NP_001129131	P58400	NRX1B_HUMAN	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)		8	2827	-		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Error:Variant_position_missing_in_P58400_after_alignment					A7KRL9|O60323|Q53TJ9|Q53TQ1|Q9C079|Q9C080|Q9C081|Q9H3M2|Q9UDM6	Silent	SNP	ENST00000406316.2	37	c.1350T>A	CCDS54360.1																																																																																				PASS	0.473	NRXN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000325291.2			17	80	17	80	---	---	---	---
TMEM17	200728	broad.mit.edu	37	2	62733230	62733230	+	Missense_Mutation	SNP	C	C	G			TCGA-22-4595-01A-01D-1267-08	TCGA-22-4595-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7fcf5123-2d1b-4666-9d39-a1aaf63cf954	850e8a4d-e0f6-4bd6-80f5-1c20e2b0e4f9	g.chr2:62733230C>G	ENST00000335390.5	-	1	246	c.35G>C	c.(34-36)gGa>gCa	p.G12A		NM_198276.2	NP_938017.2	Q86X19	TMM17_HUMAN	transmembrane protein 17	12					cilium assembly (GO:0042384)|smoothened signaling pathway (GO:0007224)	ciliary membrane (GO:0060170)|ciliary transition zone (GO:0035869)|integral component of membrane (GO:0016021)|TCTN-B9D complex (GO:0036038)		p.G12A(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)	9	Lung NSC(7;0.0274)|all_lung(7;0.0568)		LUSC - Lung squamous cell carcinoma(7;1.31e-05)|Epithelial(17;0.169)			GCTGAAGTTTCCCAGCCGCTG	0.677																																						uc002sbt.2																			1	Substitution - Missense(1)		lung(1)		0						c.(34-36)GGA>GCA		transmembrane protein 17							24.0	27.0	26.0					2																	62733230		2203	4298	6501	SO:0001583	missense	200728					integral to membrane		g.chr2:62733230C>G		CCDS1871.1	2p15	2008-02-05			ENSG00000186889	ENSG00000186889			26623	protein-coding gene	gene with protein product		614950				12477932	Standard	NM_198276		Approved	FLJ34583	uc002sbt.2	Q86X19	OTTHUMG00000129455	ENST00000335390.5:c.35G>C	2.37:g.62733230C>G	ENSP00000335094:p.Gly12Ala					TMEM17_uc002sbu.2_Missense_Mutation_p.G12A|TMEM17_uc002sbv.1_Intron	p.G12A	NM_198276	NP_938017	Q86X19	TMM17_HUMAN	LUSC - Lung squamous cell carcinoma(7;1.31e-05)|Epithelial(17;0.169)		1	375	-	Lung NSC(7;0.0274)|all_lung(7;0.0568)		12					Q53QP7|Q53R98	Missense_Mutation	SNP	ENST00000335390.5	37	c.35G>C	CCDS1871.1	.	.	.	.	.	.	.	.	.	.	C	6.100	0.386751	0.11524	.	.	ENSG00000186889	ENST00000335390	T	0.39997	1.05	4.82	3.9	0.45041	.	0.311150	0.32473	N	0.006060	T	0.24967	0.0606	N	0.24115	0.695	0.30063	N	0.810711	B	0.26363	0.147	B	0.26310	0.068	T	0.10706	-1.0618	10	0.07325	T	0.83	-5.6728	11.7423	0.51801	0.1747:0.8253:0.0:0.0	.	12	Q86X19	TMM17_HUMAN	A	12	ENSP00000335094:G12A	ENSP00000335094:G12A	G	-	2	0	TMEM17	62586734	0.568000	0.26635	1.000000	0.80357	0.618000	0.37518	0.752000	0.26362	2.525000	0.85131	0.456000	0.33151	GGA		PASS	0.677	TMEM17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251618.3	NM_198276		4	10	4	10	---	---	---	---
GCFC2	6936	broad.mit.edu	37	2	75899136	75899136	+	Silent	SNP	T	T	C			TCGA-22-4595-01A-01D-1267-08	TCGA-22-4595-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7fcf5123-2d1b-4666-9d39-a1aaf63cf954	850e8a4d-e0f6-4bd6-80f5-1c20e2b0e4f9	g.chr2:75899136T>C	ENST00000321027.3	-	14	2029	c.1896A>G	c.(1894-1896)gtA>gtG	p.V632V	RP11-342K6.2_ENST00000604219.1_RNA|MRPL19_ENST00000358788.6_Intron|GCFC2_ENST00000541687.1_3'UTR|GCFC2_ENST00000409857.3_Silent_p.V594V	NM_001201334.1|NM_003203.4	NP_001188263.1|NP_003194.3	P16383	GCFC2_HUMAN	GC-rich sequence DNA-binding factor 2	632					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription, DNA-templated (GO:0006355)|spliceosomal complex assembly (GO:0000245)	nucleolus (GO:0005730)|nucleus (GO:0005634)|U2-type post-mRNA release spliceosomal complex (GO:0071008)	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 negative regulation of transcription (GO:0001078)	p.V632V(1)									TTTTGTTTTCTACAGCACTAA	0.343																																						uc002sno.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.(1894-1896)GTA>GTG		hypothetical protein LOC6936							118.0	109.0	112.0					2																	75899136		2203	4300	6503	SO:0001819	synonymous_variant	6936				negative regulation of transcription, DNA-dependent	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr2:75899136T>C	AB026911	CCDS1961.1, CCDS62943.1	2p12	2014-01-17	2011-11-24	2011-11-24	ENSG00000005436	ENSG00000005436			1317	protein-coding gene	gene with protein product	"""GC binding factor"""	189901	"""transcription factor 9 (binds GC-rich sequences)"", ""chromosome 2 open reading frame 3"""	TCF9, C2orf3		1370479, 2556218, 17309879, 24304693	Standard	NM_003203		Approved	DNABF, GCF	uc002sno.3	P16383	OTTHUMG00000129989	ENST00000321027.3:c.1896A>G	2.37:g.75899136T>C						C2orf3_uc010ffs.2_Silent_p.V194V|C2orf3_uc002snn.2_Silent_p.V463V|C2orf3_uc010fft.2_Silent_p.V307V	p.V632V	NM_003203	NP_003194	P16383	GCF_HUMAN			14	2026	-			632					A4UHQ8|O95032|Q53TY0|Q6P2F2	Silent	SNP	ENST00000321027.3	37	c.1896A>G	CCDS1961.1																																																																																				PASS	0.343	GCFC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252255.2	NM_003203		32	89	32	89	---	---	---	---
LRRTM1	347730	broad.mit.edu	37	2	80530588	80530588	+	Silent	SNP	C	C	A			TCGA-22-4595-01A-01D-1267-08	TCGA-22-4595-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7fcf5123-2d1b-4666-9d39-a1aaf63cf954	850e8a4d-e0f6-4bd6-80f5-1c20e2b0e4f9	g.chr2:80530588C>A	ENST00000295057.3	-	2	1013	c.357G>T	c.(355-357)acG>acT	p.T119T	CTNNA2_ENST00000496558.1_Intron|LRRTM1_ENST00000409148.1_Silent_p.T119T|CTNNA2_ENST00000466387.1_Intron|CTNNA2_ENST00000402739.4_Intron|CTNNA2_ENST00000541047.1_Intron|CTNNA2_ENST00000540488.1_Intron|CTNNA2_ENST00000361291.4_Intron	NM_178839.4	NP_849161.2	Q86UE6	LRRT1_HUMAN	leucine rich repeat transmembrane neuronal 1	119					exploration behavior (GO:0035640)|locomotory behavior (GO:0007626)|long-term synaptic potentiation (GO:0060291)|negative regulation of receptor internalization (GO:0002091)|protein localization to synapse (GO:0035418)|synapse organization (GO:0050808)	axon (GO:0030424)|cell junction (GO:0030054)|endoplasmic reticulum (GO:0005783)|excitatory synapse (GO:0060076)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|postsynaptic membrane (GO:0045211)		p.T119T(2)		NS(1)|breast(1)|endometrium(5)|large_intestine(7)|liver(1)|lung(33)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	63						TGGAACTCAGCGTGAGTTCCT	0.587										HNSCC(69;0.2)																												uc002sok.1																			2	Substitution - coding silent(2)		lung(2)	ovary(3)|upper_aerodigestive_tract(1)|skin(1)	5						c.(355-357)ACG>ACT		leucine rich repeat transmembrane neuronal 1							194.0	186.0	189.0					2																	80530588		2203	4300	6503	SO:0001819	synonymous_variant	347730					axon|endoplasmic reticulum membrane|growth cone|integral to membrane		g.chr2:80530588C>A	AY358310	CCDS1966.1	2p12	2004-06-22			ENSG00000162951	ENSG00000162951			19408	protein-coding gene	gene with protein product		610867				12676565	Standard	XR_244930		Approved	FLJ32082	uc002sok.1	Q86UE6	OTTHUMG00000130021	ENST00000295057.3:c.357G>T	2.37:g.80530588C>A		HNSCC(69;0.2)				CTNNA2_uc010yse.1_Intron|CTNNA2_uc010ysf.1_Intron|CTNNA2_uc010ysg.1_Intron|CTNNA2_uc010ysh.1_Intron|CTNNA2_uc010ysi.1_5'Flank|LRRTM1_uc002soj.3_RNA	p.T119T	NM_178839	NP_849161	Q86UE6	LRRT1_HUMAN			2	627	-			119			LRR 2.|Lumenal (Potential).		A8K397|D6W5K1|Q96DN1	Silent	SNP	ENST00000295057.3	37	c.357G>T	CCDS1966.1																																																																																				PASS	0.587	LRRTM1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313614.1	NM_178839		64	233	64	233	---	---	---	---
KCMF1	56888	broad.mit.edu	37	2	85273227	85273227	+	Splice_Site	SNP	G	G	C			TCGA-22-4595-01A-01D-1267-08	TCGA-22-4595-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7fcf5123-2d1b-4666-9d39-a1aaf63cf954	850e8a4d-e0f6-4bd6-80f5-1c20e2b0e4f9	g.chr2:85273227G>C	ENST00000409785.4	+	5	786	c.427G>C	c.(427-429)Gat>Cat	p.D143H		NM_020122.4	NP_064507.3	Q9P0J7	KCMF1_HUMAN	potassium channel modulatory factor 1	143							ligase activity (GO:0016874)|zinc ion binding (GO:0008270)	p.D143H(1)		ovary(3)	3						TTTGGGTTATGATGAATCGAG	0.403																																						uc002sox.3																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(427-429)GAT>CAT		potassium channel modulatory factor 1							104.0	92.0	96.0					2																	85273227		1865	4093	5958	SO:0001630	splice_region_variant	56888					intracellular	ligase activity|zinc ion binding	g.chr2:85273227G>C	AF155652	CCDS46350.1	2p11.2	2010-11-23			ENSG00000176407	ENSG00000176407		"""Zinc fingers, ZZ-type"""	20589	protein-coding gene	gene with protein product		614719					Standard	NM_020122		Approved	DEBT91, PCMF, DKFZP434L1021, ZZZ1	uc002sox.4	Q9P0J7	OTTHUMG00000153004	ENST00000409785.4:c.427-1G>C	2.37:g.85273227G>C							p.D143H	NM_020122	NP_064507	Q9P0J7	KCMF1_HUMAN			5	771	+			143					Q4ZG04|Q53SC7|Q9BWK2|Q9H8P5|Q9UFE8	Missense_Mutation	SNP	ENST00000409785.4	37	c.427G>C	CCDS46350.1	.	.	.	.	.	.	.	.	.	.	G	25.5	4.647072	0.87958	.	.	ENSG00000176407	ENST00000409785;ENST00000453448	T	0.51817	0.69	5.43	5.43	0.79202	Drought induced 19/ RING finger protein 114 (1);	2.742250	0.01162	N	0.006673	T	0.69124	0.3076	L	0.46157	1.445	0.80722	D	1	D	0.89917	1.0	D	0.79108	0.992	T	0.47368	-0.9123	9	.	.	.	7.2201	16.7501	0.85483	0.0:0.0:1.0:0.0	.	143	Q9P0J7	KCMF1_HUMAN	H	143;92	ENSP00000386738:D143H	.	D	+	1	0	KCMF1	85126738	1.000000	0.71417	1.000000	0.80357	0.842000	0.47809	9.831000	0.99420	2.545000	0.85829	0.462000	0.41574	GAT		PASS	0.403	KCMF1-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328942.4	NM_020122	Missense_Mutation	9	43	9	43	---	---	---	---
SFTPB	6439	broad.mit.edu	37	2	85890958	85890958	+	Missense_Mutation	SNP	C	C	G			TCGA-22-4595-01A-01D-1267-08	TCGA-22-4595-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7fcf5123-2d1b-4666-9d39-a1aaf63cf954	850e8a4d-e0f6-4bd6-80f5-1c20e2b0e4f9	g.chr2:85890958C>G	ENST00000519937.2	-	7	704	c.685G>C	c.(685-687)Gtg>Ctg	p.V229L	SFTPB_ENST00000342375.3_Missense_Mutation_p.V229L|SFTPB_ENST00000393822.3_Missense_Mutation_p.V241L|SFTPB_ENST00000409383.1_Missense_Mutation_p.V241L			P07988	PSPB_HUMAN	surfactant protein B	229	Saposin B-type 2. {ECO:0000255|PROSITE- ProRule:PRU00415}.				organ morphogenesis (GO:0009887)|respiratory gaseous exchange (GO:0007585)|sphingolipid metabolic process (GO:0006665)	extracellular region (GO:0005576)|lysosome (GO:0005764)		p.V229L(1)		central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(3)|ovary(1)|prostate(1)|skin(3)	16						GCCACTGCCACAGCTAGCGCA	0.677																																						uc002sqh.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.(685-687)GTG>CTG		surfactant, pulmonary-associated protein B							10.0	11.0	11.0					2																	85890958		2182	4271	6453	SO:0001583	missense	6439				organ morphogenesis|respiratory gaseous exchange|sphingolipid metabolic process	extracellular space|lysosome		g.chr2:85890958C>G	J02761	CCDS1983.1, CCDS1983.2	2p12-p11.2	2008-08-26	2008-08-26		ENSG00000168878	ENSG00000168878			10801	protein-coding gene	gene with protein product		178640	"""surfactant, pulmonary-associated protein B"""	SFTP3		2924687, 1346779	Standard	NM_198843		Approved	SP-B	uc002sqh.3	P07988	OTTHUMG00000130181	ENST00000519937.2:c.685G>C	2.37:g.85890958C>G	ENSP00000428719:p.Val229Leu					SFTPB_uc002sqi.2_Missense_Mutation_p.V241L|SFTPB_uc002sqj.2_Missense_Mutation_p.V229L|SFTPB_uc010ysw.1_5'Flank	p.V229L	NM_198843	NP_942140	P07988	PSPB_HUMAN			7	691	-			229			Saposin B-type 2.		Q96R04	Missense_Mutation	SNP	ENST00000519937.2	37	c.685G>C		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	1.037|1.037	-0.679997|-0.679997	0.03353|0.03353	.|.	.|.	ENSG00000168878|ENSG00000168878	ENST00000428225|ENST00000519937;ENST00000393822;ENST00000342375;ENST00000409383;ENST00000441838	.|D;D;D;D	.|0.84223	.|-1.82;-1.82;-1.82;-1.82	5.27|5.27	-6.17|-6.17	0.02091|0.02091	.|Saposin-like (2);Saposin B (2);	.|0.950303	.|0.08700	.|N	.|0.906562	T|T	0.72574|0.72574	0.3477|0.3477	L|L	0.51422|0.51422	1.61|1.61	0.09310|0.09310	N|N	1|1	.|B;B	.|0.18741	.|0.03;0.03	.|B;B	.|0.12156	.|0.007;0.007	T|T	0.56238|0.56238	-0.8012|-0.8012	5|10	.|0.29301	.|T	.|0.29	0.202|0.202	0.4233|0.4233	0.00459|0.00459	0.216:0.2073:0.2126:0.3642|0.216:0.2073:0.2126:0.3642	.|.	.|241;229	.|D6W5L6;P07988	.|.;PSPB_HUMAN	S|L	225|231;241;229;241;197	.|ENSP00000428719:V231L;ENSP00000377409:V241L;ENSP00000345161:V229L;ENSP00000386346:V241L	.|ENSP00000345161:V229L	C|V	-|-	2|1	0|0	SFTPB|SFTPB	85744469|85744469	0.000000|0.000000	0.05858|0.05858	0.011000|0.011000	0.14972|0.14972	0.431000|0.431000	0.31685|0.31685	-1.901000|-1.901000	0.01597|0.01597	-1.504000|-1.504000	0.01810|0.01810	0.561000|0.561000	0.74099|0.74099	TGT|GTG		PASS	0.677	SFTPB-001	KNOWN	alternative_3_UTR|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000252499.3	NM_198843		2	6	2	6	---	---	---	---
IGKV1-6	28943	broad.mit.edu	37	2	89265834	89265835	+	RNA	DNP	GG	GG	TT			TCGA-22-4595-01A-01D-1267-08	TCGA-22-4595-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7fcf5123-2d1b-4666-9d39-a1aaf63cf954	850e8a4d-e0f6-4bd6-80f5-1c20e2b0e4f9	g.chr2:89265834_89265835GG>TT	ENST00000464162.1	-	0	325_326									immunoglobulin kappa variable 1-6																		TCAGGCTGCAGGCTGCTGATGG	0.485																																						uc010ytr.1																			0													Parts of antibodies, mostly variable regions.																																						0							g.chr2:89265834G>T|g.chr2:89265835G>T	M64858		2p11.2	2012-02-10			ENSG00000239855	ENSG00000239855		"""Immunoglobulins / IGK locus"""	5742	other	immunoglobulin gene							Standard	NG_000834		Approved				OTTHUMG00000151559	Exception_encountered	2.37:g.89265834_89265835delinsTT						uc002stl.2_Intron								95		-									RNA	SNP	ENST00000464162.1	37	c.7732C>A|c.7731C>A																																																																																					PASS	0.485	IGKV1-6-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IG_V_gene	OTTHUMT00000323134.2	NG_000834		71|69	272|275	69	272	---	---	---	---
IGKV3-11	28914	broad.mit.edu	37	2	89326822	89326822	+	RNA	SNP	G	G	T			TCGA-22-4595-01A-01D-1267-08	TCGA-22-4595-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7fcf5123-2d1b-4666-9d39-a1aaf63cf954	850e8a4d-e0f6-4bd6-80f5-1c20e2b0e4f9	g.chr2:89326822G>T	ENST00000483158.1	-	0	237									immunoglobulin kappa variable 3-11																		GAGGAGCCTGGGAGCCTGGCC	0.577																																						uc010ytr.1																			0													Parts of antibodies, mostly variable regions.							70.0	66.0	67.0					2																	89326822		1857	4092	5949			0							g.chr2:89326822G>T	X01668		2p11.2	2012-02-08			ENSG00000241351	ENSG00000241351		"""Immunoglobulins / IGK locus"""	5815	other	immunoglobulin gene							Standard	NG_000834		Approved		uc021vkj.1		OTTHUMG00000151633		2.37:g.89326822G>T						uc002stl.2_Intron								68		-									RNA	SNP	ENST00000483158.1	37	c.6356C>A																																																																																					PASS	0.577	IGKV3-11-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IG_V_gene	OTTHUMT00000323357.1	NG_000834		34	86	34	86	---	---	---	---
SNRNP200	23020	broad.mit.edu	37	2	96949346	96949346	+	Missense_Mutation	SNP	G	G	A			TCGA-22-4595-01A-01D-1267-08	TCGA-22-4595-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7fcf5123-2d1b-4666-9d39-a1aaf63cf954	850e8a4d-e0f6-4bd6-80f5-1c20e2b0e4f9	g.chr2:96949346G>A	ENST00000323853.5	-	33	4767	c.4690C>T	c.(4690-4692)Ccg>Tcg	p.P1564S	SNRNP200_ENST00000349783.5_Intron	NM_014014.4	NP_054733.2	O75643	U520_HUMAN	small nuclear ribonucleoprotein 200kDa (U5)	1564	Helicase C-terminal 2. {ECO:0000255|PROSITE-ProRule:PRU00542}.				ATP catabolic process (GO:0006200)|cis assembly of pre-catalytic spliceosome (GO:0000354)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|osteoblast differentiation (GO:0001649)|RNA splicing (GO:0008380)	catalytic step 2 spliceosome (GO:0071013)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)|U5 snRNP (GO:0005682)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|ATP-dependent RNA helicase activity (GO:0004004)|identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)	p.P1564S(1)		breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|lung(37)|ovary(7)|prostate(4)|skin(5)|stomach(1)|urinary_tract(1)	90						TTGCGAGACGGCACAAAGACA	0.582																																						uc002svu.2																			1	Substitution - Missense(1)		lung(1)	ovary(5)|skin(4)|large_intestine(1)	10						c.(4690-4692)CCG>TCG		activating signal cointegrator 1 complex subunit							174.0	165.0	168.0					2																	96949346		2203	4300	6503	SO:0001583	missense	23020					catalytic step 2 spliceosome|nucleoplasm|U5 snRNP	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding	g.chr2:96949346G>A	AL831994	CCDS2020.1	2q11.2	2013-05-13	2008-10-29	2008-10-29	ENSG00000144028	ENSG00000144028			30859	protein-coding gene	gene with protein product	"""U5 snRNP specific protein, 200 KD"""	601664	"""activating signal cointegrator 1 complex subunit 3-like 1"", ""retinitis pigmentosa 33 (autosomal dominant)"""	ASCC3L1, RP33		9872452, 8670905, 9774689, 9539711, 16612614, 19878916	Standard	NM_014014		Approved	U5-200KD, HELIC2, KIAA0788, BRR2	uc002svu.3	O75643	OTTHUMG00000130455	ENST00000323853.5:c.4690C>T	2.37:g.96949346G>A	ENSP00000317123:p.Pro1564Ser					SNRNP200_uc002svt.2_Missense_Mutation_p.P174S|SNRNP200_uc010yuj.1_RNA|SNRNP200_uc002svv.1_Missense_Mutation_p.P91S	p.P1564S	NM_014014	NP_054733	O75643	U520_HUMAN			33	4776	-			1564			Helicase C-terminal 2.		O94884|Q6NZY0|Q6PX59|Q8NBE6|Q96IF2|Q9H7S0	Missense_Mutation	SNP	ENST00000323853.5	37	c.4690C>T	CCDS2020.1	.	.	.	.	.	.	.	.	.	.	G	18.25	3.581439	0.65992	.	.	ENSG00000144028	ENST00000323853;ENST00000536601;ENST00000543553	D	0.86694	-2.16	5.0	5.0	0.66597	Helicase, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.82628	0.5078	L	0.31207	0.915	0.80722	D	1	P;B	0.39847	0.691;0.017	B;B	0.40228	0.323;0.027	D	0.83797	0.0234	10	0.46703	T	0.11	-12.1656	17.4484	0.87585	0.0:0.0:1.0:0.0	.	1315;1564	A4FU77;O75643	.;U520_HUMAN	S	1564;23;147	ENSP00000317123:P1564S	ENSP00000317123:P1564S	P	-	1	0	SNRNP200	96313073	1.000000	0.71417	0.179000	0.23059	0.984000	0.73092	6.295000	0.72744	2.488000	0.83962	0.563000	0.77884	CCG		PASS	0.582	SNRNP200-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252846.2	NM_014014		5	275	5	275	---	---	---	---
LONRF2	164832	broad.mit.edu	37	2	100906846	100906846	+	Silent	SNP	G	G	A			TCGA-22-4595-01A-01D-1267-08	TCGA-22-4595-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7fcf5123-2d1b-4666-9d39-a1aaf63cf954	850e8a4d-e0f6-4bd6-80f5-1c20e2b0e4f9	g.chr2:100906846G>A	ENST00000393437.3	-	10	2433	c.1794C>T	c.(1792-1794)gaC>gaT	p.D598D	LONRF2_ENST00000409647.1_Silent_p.D355D	NM_198461.3	NP_940863.3	Q1L5Z9	LONF2_HUMAN	LON peptidase N-terminal domain and ring finger 2	598	Lon.						ATP-dependent peptidase activity (GO:0004176)|zinc ion binding (GO:0008270)	p.D598D(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(11)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	34						ACGTTCTCACGTCCTTAATCT	0.478																																						uc002tal.3																			1	Substitution - coding silent(1)		lung(1)	large_intestine(1)|skin(1)	2						c.(1792-1794)GAC>GAT		LON peptidase N-terminal domain and ring finger							135.0	122.0	126.0					2																	100906846		2203	4300	6503	SO:0001819	synonymous_variant	164832				proteolysis		ATP-dependent peptidase activity|zinc ion binding	g.chr2:100906846G>A	AK127206	CCDS2046.2	2q11.2	2013-01-09			ENSG00000170500	ENSG00000170500		"""RING-type (C3HC4) zinc fingers"""	24788	protein-coding gene	gene with protein product							Standard	NM_198461		Approved	FLJ45273, RNF192	uc002tal.4	Q1L5Z9	OTTHUMG00000130668	ENST00000393437.3:c.1794C>T	2.37:g.100906846G>A						LONRF2_uc010yvs.1_RNA	p.D598D	NM_198461	NP_940863	Q1L5Z9	LONF2_HUMAN			10	2434	-			598			Lon.		B9A006|Q6ZSR4	Silent	SNP	ENST00000393437.3	37	c.1794C>T	CCDS2046.2																																																																																				PASS	0.478	LONRF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253161.2	NM_198461		55	566	55	566	---	---	---	---
CCDC93	54520	broad.mit.edu	37	2	118693071	118693071	+	Splice_Site	SNP	C	C	A			TCGA-22-4595-01A-01D-1267-08	TCGA-22-4595-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7fcf5123-2d1b-4666-9d39-a1aaf63cf954	850e8a4d-e0f6-4bd6-80f5-1c20e2b0e4f9	g.chr2:118693071C>A	ENST00000376300.2	-	22	1865	c.1728G>T	c.(1726-1728)aaG>aaT	p.K576N	HTR5BP_ENST00000434708.1_RNA|CCDC93_ENST00000319432.5_Splice_Site_p.K575N	NM_019044.4	NP_061917.3	Q567U6	CCD93_HUMAN	coiled-coil domain containing 93	576								p.K576N(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(2)	29						GCCATCTGACCTTCATTCTAC	0.498																																						uc002tlj.2																			1	Substitution - Missense(1)		lung(1)	large_intestine(1)|ovary(1)	2						c.(1726-1728)AAG>AAT		coiled-coil domain containing 93							107.0	100.0	103.0					2																	118693071		2203	4300	6503	SO:0001630	splice_region_variant	54520							g.chr2:118693071C>A	BC028609	CCDS2121.2	2q14.1	2008-02-05			ENSG00000125633	ENSG00000125633			25611	protein-coding gene	gene with protein product						12477932	Standard	NM_019044		Approved	FLJ10996	uc002tlj.3	Q567U6	OTTHUMG00000058517	ENST00000376300.2:c.1728+1G>T	2.37:g.118693071C>A							p.K576N	NM_019044	NP_061917	Q567U6	CCD93_HUMAN			22	1854	-			576			Potential.		A8K3V7|Q4LE78|Q53TJ2|Q8TBX5|Q9H6R5|Q9NV15	Missense_Mutation	SNP	ENST00000376300.2	37	c.1728G>T	CCDS2121.2	.	.	.	.	.	.	.	.	.	.	C	33	5.238383	0.95240	.	.	ENSG00000125633	ENST00000376300;ENST00000319432	T;T	0.65549	-0.16;-0.16	5.66	5.66	0.87406	.	0.000000	0.85682	D	0.000000	T	0.82204	0.4986	M	0.87381	2.88	0.80722	D	1	D	0.89917	1.0	D	0.77004	0.989	D	0.84089	0.0389	9	.	.	.	-25.3389	17.9273	0.88987	0.0:1.0:0.0:0.0	.	576	Q567U6	CCD93_HUMAN	N	576;575	ENSP00000365477:K576N;ENSP00000324135:K575N	.	K	-	3	2	CCDC93	118409541	1.000000	0.71417	1.000000	0.80357	0.946000	0.59487	7.108000	0.77055	2.678000	0.91216	0.563000	0.77884	AAG		PASS	0.498	CCDC93-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000129615.1	NM_019044	Missense_Mutation	38	83	38	83	---	---	---	---
INSIG2	51141	broad.mit.edu	37	2	118860889	118860889	+	Missense_Mutation	SNP	G	G	T			TCGA-22-4595-01A-01D-1267-08	TCGA-22-4595-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7fcf5123-2d1b-4666-9d39-a1aaf63cf954	850e8a4d-e0f6-4bd6-80f5-1c20e2b0e4f9	g.chr2:118860889G>T	ENST00000245787.4	+	3	567	c.361G>T	c.(361-363)Gcc>Tcc	p.A121S	INSIG2_ENST00000485520.1_3'UTR	NM_016133.2	NP_057217.2	Q9Y5U4	INSI2_HUMAN	insulin induced gene 2	121					cholesterol biosynthetic process (GO:0006695)|cranial suture morphogenesis (GO:0060363)|inner ear morphogenesis (GO:0042472)|middle ear morphogenesis (GO:0042474)|negative regulation of fatty acid biosynthetic process (GO:0045717)|negative regulation of steroid biosynthetic process (GO:0010894)|palate development (GO:0060021)|response to fatty acid (GO:0070542)|response to insulin (GO:0032868)|small molecule metabolic process (GO:0044281)|SREBP signaling pathway (GO:0032933)|triglyceride metabolic process (GO:0006641)	endoplasmic reticulum membrane (GO:0005789)|SREBP-SCAP-Insig complex (GO:0032937)		p.A121S(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(5)|ovary(1)	13						TATAAATCATGCCAGTGCTGT	0.398																																						uc002tlk.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.(361-363)GCC>TCC		insulin induced protein 2							225.0	218.0	220.0					2																	118860889		2203	4300	6503	SO:0001583	missense	51141				ER-nuclear sterol response pathway	SREBP-SCAP-Insig complex		g.chr2:118860889G>T	AF527632	CCDS2122.1	2q14.1	2008-02-05			ENSG00000125629	ENSG00000125629			20452	protein-coding gene	gene with protein product		608660				12242332	Standard	NM_016133		Approved		uc002tlk.3	Q9Y5U4	OTTHUMG00000058518	ENST00000245787.4:c.361G>T	2.37:g.118860889G>T	ENSP00000245787:p.Ala121Ser					INSIG2_uc010yye.1_Missense_Mutation_p.A13S|INSIG2_uc002tll.2_Missense_Mutation_p.A13S	p.A121S	NM_016133	NP_057217	Q9Y5U4	INSI2_HUMAN			3	567	+			121					A8K5W8|Q8TBI8	Missense_Mutation	SNP	ENST00000245787.4	37	c.361G>T	CCDS2122.1	.	.	.	.	.	.	.	.	.	.	G	15.70	2.912243	0.52439	.	.	ENSG00000125629	ENST00000245787	.	.	.	5.4	5.4	0.78164	.	0.000000	0.85682	D	0.000000	D	0.84754	0.5542	M	0.87900	2.915	0.80722	D	1	D;B	0.76494	0.999;0.089	D;B	0.83275	0.996;0.136	D	0.85616	0.1261	9	0.52906	T	0.07	.	19.3716	0.94490	0.0:0.0:1.0:0.0	.	13;121	B4DQ23;Q9Y5U4	.;INSI2_HUMAN	S	121	.	ENSP00000245787:A121S	A	+	1	0	INSIG2	118577359	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.595000	0.98260	2.805000	0.96524	0.655000	0.94253	GCC		PASS	0.398	INSIG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000129624.1	NM_016133		51	262	51	262	---	---	---	---
C2orf76	130355	broad.mit.edu	37	2	120069255	120069255	+	Nonsense_Mutation	SNP	C	C	A			TCGA-22-4595-01A-01D-1267-08	TCGA-22-4595-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7fcf5123-2d1b-4666-9d39-a1aaf63cf954	850e8a4d-e0f6-4bd6-80f5-1c20e2b0e4f9	g.chr2:120069255C>A	ENST00000409466.2	-	6	768	c.247G>T	c.(247-249)Gaa>Taa	p.E83*	C2orf76_ENST00000334816.7_Nonsense_Mutation_p.E83*|C2orf76_ENST00000409523.1_Nonsense_Mutation_p.E83*|C2orf76_ENST00000409877.1_Nonsense_Mutation_p.E83*			Q3KRA6	CB076_HUMAN	chromosome 2 open reading frame 76	83								p.E83*(1)		large_intestine(1)|lung(3)|pancreas(1)	5						TCGTCATCTTCCAAACTCAAC	0.443																																						uc002tls.2																			1	Substitution - Nonsense(1)		lung(1)		0						c.(247-249)GAA>TAA		hypothetical protein LOC130355							81.0	76.0	78.0					2																	120069255		1870	4111	5981	SO:0001587	stop_gained	130355							g.chr2:120069255C>A		CCDS42739.1	2q14.2	2011-05-09			ENSG00000186132	ENSG00000186132			27017	protein-coding gene	gene with protein product						12477932	Standard	NM_001017927		Approved	MGC104437, LOC130355, AIM29	uc002tls.2	Q3KRA6	OTTHUMG00000153298	ENST00000409466.2:c.247G>T	2.37:g.120069255C>A	ENSP00000386302:p.Glu83*					C2orf76_uc010flf.1_Nonsense_Mutation_p.E83*|C2orf76_uc010yyg.1_RNA|C2orf76_uc002tlt.2_Nonsense_Mutation_p.E83*|C2orf76_uc002tlu.2_Nonsense_Mutation_p.E83*	p.E83*	NM_001017927	NP_001017927	Q3KRA6	CB076_HUMAN			6	788	-			83					B7ZLS8|Q4VC35	Nonsense_Mutation	SNP	ENST00000409466.2	37	c.247G>T	CCDS42739.1	.	.	.	.	.	.	.	.	.	.	C	38	6.717436	0.97784	.	.	ENSG00000186132	ENST00000409466;ENST00000334816;ENST00000409877;ENST00000409523	.	.	.	5.24	5.24	0.73138	.	0.094628	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.49607	T	0.09	-0.8599	16.1523	0.81632	0.0:1.0:0.0:0.0	.	.	.	.	X	83	.	ENSP00000335041:E83X	E	-	1	0	C2orf76	119785725	1.000000	0.71417	1.000000	0.80357	0.936000	0.57629	4.918000	0.63376	2.724000	0.93272	0.561000	0.74099	GAA		PASS	0.443	C2orf76-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330582.2	NM_001017927		28	86	28	86	---	---	---	---
POTEF	728378	broad.mit.edu	37	2	130877689	130877689	+	Missense_Mutation	SNP	G	G	C			TCGA-22-4595-01A-01D-1267-08	TCGA-22-4595-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7fcf5123-2d1b-4666-9d39-a1aaf63cf954	850e8a4d-e0f6-4bd6-80f5-1c20e2b0e4f9	g.chr2:130877689G>C	ENST00000409914.2	-	3	799	c.400C>G	c.(400-402)Cac>Gac	p.H134D	POTEF_ENST00000360967.5_Missense_Mutation_p.H134D|POTEF_ENST00000357462.5_Missense_Mutation_p.H134D|POTEF_ENST00000361163.4_Missense_Mutation_p.H134D	NM_001099771.2	NP_001093241.1	A5A3E0	POTEF_HUMAN	POTE ankyrin domain family, member F	134					retina homeostasis (GO:0001895)	blood microparticle (GO:0072562)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)		p.H134D(2)		breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(4)|lung(28)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	53						CCACGGACGTGGTACCTGGGC	0.592																																						uc010fmh.2																			2	Substitution - Missense(2)		lung(2)	skin(3)|ovary(2)	5						c.(400-402)CAC>GAC		prostate, ovary, testis expressed protein on							69.0	80.0	76.0					2																	130877689		2201	4299	6500	SO:0001583	missense	728378					cell cortex	ATP binding	g.chr2:130877689G>C	EF523384	CCDS46409.1	2q21.1	2013-01-10	2008-11-26	2008-11-26	ENSG00000196604	ENSG00000196604		"""POTE ankyrin domain containing"", ""Ankyrin repeat domain containing"""	33905	protein-coding gene	gene with protein product			"""ANKRD26-like family C, member 1B"""	A26C1B		17101985	Standard	NM_001099771		Approved	POTEACTIN, POTE2alpha	uc010fmh.2	A5A3E0	OTTHUMG00000153628	ENST00000409914.2:c.400C>G	2.37:g.130877689G>C	ENSP00000386786:p.His134Asp						p.H134D	NM_001099771	NP_001093241	A5A3E0	POTEF_HUMAN			3	800	-			134					A6NC34	Missense_Mutation	SNP	ENST00000409914.2	37	c.400C>G	CCDS46409.1	.	.	.	.	.	.	.	.	.	.	.	3.202	-0.163600	0.06502	.	.	ENSG00000196604	ENST00000357462;ENST00000409914;ENST00000360967;ENST00000361163	T;T;T;T	0.52057	0.68;0.68;0.68;0.68	1.33	-1.13	0.09775	.	.	.	.	.	T	0.25606	0.0623	L	0.40543	1.245	0.09310	N	1	P	0.42993	0.797	B	0.25759	0.063	T	0.18335	-1.0340	9	0.87932	D	0	.	2.5508	0.04748	0.2359:0.3171:0.447:0.0	.	134	A5A3E0	POTEF_HUMAN	D	134	ENSP00000350052:H134D;ENSP00000386786:H134D;ENSP00000354232:H134D;ENSP00000355012:H134D	ENSP00000350052:H134D	H	-	1	0	POTEF	130594159	0.000000	0.05858	0.001000	0.08648	0.007000	0.05969	-0.075000	0.11431	-0.340000	0.08388	0.162000	0.16502	CAC		PASS	0.592	POTEF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331889.2	NM_001099771		64	131	64	131	---	---	---	---
POTEE	445582	broad.mit.edu	37	2	131976375	131976375	+	Missense_Mutation	SNP	C	C	G			TCGA-22-4595-01A-01D-1267-08	TCGA-22-4595-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7fcf5123-2d1b-4666-9d39-a1aaf63cf954	850e8a4d-e0f6-4bd6-80f5-1c20e2b0e4f9	g.chr2:131976375C>G	ENST00000356920.5	+	1	494	c.400C>G	c.(400-402)Cac>Gac	p.H134D	POTEE_ENST00000358087.5_Missense_Mutation_p.H134D|PLEKHB2_ENST00000404460.1_Intron|PLEKHB2_ENST00000303908.3_Intron	NM_001083538.1	NP_001077007.1	Q6S8J3	POTEE_HUMAN	POTE ankyrin domain family, member E	134					retina homeostasis (GO:0001895)|substantia nigra development (GO:0021762)	blood microparticle (GO:0072562)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)		p.H134D(2)									GCCCAGGTACCACGTCCGTGG	0.602																																						uc002tsn.2																			2	Substitution - Missense(2)		lung(2)		0						c.(400-402)CAC>GAC		protein expressed in prostate, ovary, testis,							77.0	80.0	79.0					2																	131976375		2203	4300	6503	SO:0001583	missense	445582						ATP binding	g.chr2:131976375C>G	AY462868	CCDS46414.1	2q21.1	2014-04-10	2008-11-26	2008-11-26	ENSG00000188219	ENSG00000188219		"""POTE ankyrin domain containing"", ""Ankyrin repeat domain containing"""	33895	protein-coding gene	gene with protein product	"""cancer/testis antigen family 104, member 2"""	608914	"""ANKRD26-like family C, member 1A"""	A26C1A			Standard	NM_001083538		Approved	POTE2, POTE-2, A26C1, POTE2gamma, CT104.2	uc002tsn.2	Q6S8J3	OTTHUMG00000186974	ENST00000356920.5:c.400C>G	2.37:g.131976375C>G	ENSP00000439189:p.His134Asp					PLEKHB2_uc002tsh.2_Intron|POTEE_uc002tsk.2_5'UTR|POTEE_uc002tsl.2_5'UTR	p.H134D	NM_001083538	NP_001077007	Q6S8J3	POTEE_HUMAN			1	452	+			134					Q6S8J4|Q6S8J5|Q6S8J8	Missense_Mutation	SNP	ENST00000356920.5	37	c.400C>G	CCDS46414.1	.	.	.	.	.	.	.	.	.	.	.	6.247	0.413714	0.11812	.	.	ENSG00000188219	ENST00000356920;ENST00000358087	T;T	0.52057	0.68;0.68	1.05	-1.76	0.08006	.	.	.	.	.	T	0.21718	0.0523	L	0.27053	0.805	0.09310	N	1	P	0.42993	0.797	B	0.25759	0.063	T	0.14364	-1.0475	9	0.87932	D	0	.	2.4181	0.04441	0.0:0.4176:0.324:0.2585	.	134	Q6S8J3	POTEE_HUMAN	D	134	ENSP00000439189:H134D;ENSP00000443049:H134D	ENSP00000439189:H134D	H	+	1	0	AC131180.1	131692845	0.000000	0.05858	0.003000	0.11579	0.105000	0.19272	0.011000	0.13264	-0.574000	0.05990	0.162000	0.16502	CAC		PASS	0.602	POTEE-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001083538		14	277	14	277	---	---	---	---
RIF1	55183	broad.mit.edu	37	2	152300042	152300042	+	Splice_Site	SNP	G	G	T			TCGA-22-4595-01A-01D-1267-08	TCGA-22-4595-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7fcf5123-2d1b-4666-9d39-a1aaf63cf954	850e8a4d-e0f6-4bd6-80f5-1c20e2b0e4f9	g.chr2:152300042G>T	ENST00000243326.5	+	17	2288		c.e17-1		RIF1_ENST00000453091.2_Splice_Site|RIF1_ENST00000430328.2_Splice_Site|RIF1_ENST00000444746.2_Splice_Site|RIF1_ENST00000428287.2_Splice_Site			Q9Y581	INSL6_HUMAN	replication timing regulatory factor 1						fertilization (GO:0009566)|male gonad development (GO:0008584)|negative regulation of apoptotic process (GO:0043066)|sperm motility (GO:0030317)|spermatid development (GO:0007286)	extracellular region (GO:0005576)	hormone activity (GO:0005179)	p.?(1)		NS(2)|breast(8)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(19)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	97				BRCA - Breast invasive adenocarcinoma(221;0.0429)		TTTTTGTTCAGGTTCTTTCTC	0.284																																						uc002txm.2																			1	Unknown(1)		lung(1)	ovary(5)|breast(4)|skin(3)|lung(2)|kidney(1)	15						c.e18-1		RAP1 interacting factor 1							88.0	96.0	93.0					2																	152300042		2202	4300	6502	SO:0001630	splice_region_variant	55183				cell cycle|response to DNA damage stimulus	chromosome, telomeric region|cytoplasm|nucleus|spindle	binding	g.chr2:152300042G>T	AK022932	CCDS2194.1, CCDS54406.1	2q23.3	2014-06-02	2014-06-02		ENSG00000080345	ENSG00000080345			23207	protein-coding gene	gene with protein product		608952	"""RAP1 interacting factor homolog (yeast)"""			15342490, 15042697, 22850674	Standard	NM_018151		Approved	FLJ12870, FLJ10599	uc002txm.3	Q5UIP0	OTTHUMG00000131886	ENST00000243326.5:c.1806-1G>T	2.37:g.152300042G>T						RIF1_uc002txl.2_Splice_Site_p.R602_splice|RIF1_uc010fnv.1_Splice_Site_p.R566_splice|RIF1_uc002txn.2_Splice_Site_p.R602_splice|RIF1_uc002txo.2_Splice_Site_p.R602_splice	p.R602_splice	NM_018151	NP_060621	Q5UIP0	RIF1_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0429)	18	1936	+								A0AVS0|Q9NS16	Splice_Site	SNP	ENST00000243326.5	37	c.1806_splice	CCDS2194.1	.	.	.	.	.	.	.	.	.	.	G	15.55	2.866768	0.51588	.	.	ENSG00000080345	ENST00000444746;ENST00000453091;ENST00000428287;ENST00000243326;ENST00000414861;ENST00000430328	.	.	.	5.3	5.3	0.74995	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.5497	0.91058	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	RIF1	152008288	1.000000	0.71417	0.995000	0.50966	0.428000	0.31595	8.774000	0.91767	2.487000	0.83934	0.467000	0.42956	.		PASS	0.284	RIF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254836.3		Intron	76	184	76	184	---	---	---	---
LY75	4065	broad.mit.edu	37	2	160698800	160698800	+	Missense_Mutation	SNP	G	G	A			TCGA-22-4595-01A-01D-1267-08	TCGA-22-4595-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7fcf5123-2d1b-4666-9d39-a1aaf63cf954	850e8a4d-e0f6-4bd6-80f5-1c20e2b0e4f9	g.chr2:160698800G>A	ENST00000263636.4	-	24	3263	c.3236C>T	c.(3235-3237)tCc>tTc	p.S1079F	LY75_ENST00000554112.1_Missense_Mutation_p.S1079F|LY75_ENST00000553424.1_Missense_Mutation_p.S1079F|LY75-CD302_ENST00000505052.1_Missense_Mutation_p.S1079F|LY75-CD302_ENST00000504764.1_Missense_Mutation_p.S1079F	NM_002349.3	NP_002340.2	O60449	LY75_HUMAN	lymphocyte antigen 75	1079	C-type lectin 6. {ECO:0000255|PROSITE- ProRule:PRU00040}.				endocytosis (GO:0006897)|immune response (GO:0006955)|inflammatory response (GO:0006954)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	carbohydrate binding (GO:0030246)|receptor activity (GO:0004872)	p.S1079F(3)		NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(22)|prostate(7)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	59				COAD - Colon adenocarcinoma(177;0.132)		TTCACTGCAGGATGTAAAATT	0.363																																						uc002ubc.3																			3	Substitution - Missense(3)		skin(2)|lung(1)		0						c.(3235-3237)TCC>TTC		lymphocyte antigen 75 precursor							103.0	104.0	103.0					2																	160698800		2203	4300	6503	SO:0001583	missense	4065				endocytosis|immune response|inflammatory response	integral to plasma membrane	receptor activity|sugar binding	g.chr2:160698800G>A	AF011333	CCDS2211.1	2q24	2011-08-30			ENSG00000054219	ENSG00000054219		"""CD molecules"", ""C-type lectin domain containing"""	6729	protein-coding gene	gene with protein product		604524				9553150	Standard	NM_002349		Approved	DEC-205, CLEC13B, CD205		O60449	OTTHUMG00000132025	ENST00000263636.4:c.3236C>T	2.37:g.160698800G>A	ENSP00000263636:p.Ser1079Phe					LY75_uc002ubb.3_Missense_Mutation_p.S1079F|LY75_uc010fos.2_Missense_Mutation_p.S1079F	p.S1079F	NM_002349	NP_002340	O60449	LY75_HUMAN		COAD - Colon adenocarcinoma(177;0.132)	24	3305	-			1079			Extracellular (Potential).|C-type lectin 6.		O75913|Q53R46|Q53TF5|Q7Z575|Q7Z577	Missense_Mutation	SNP	ENST00000263636.4	37	c.3236C>T	CCDS2211.1	.	.	.	.	.	.	.	.	.	.	G	18.63	3.665607	0.67700	.	.	ENSG00000054219;ENSG00000054219;ENSG00000054219;ENSG00000248672;ENSG00000248672	ENST00000554112;ENST00000553424;ENST00000263636;ENST00000504764;ENST00000505052	T;T;T;T;T	0.56776	0.44;0.44;0.44;0.44;0.44	5.37	4.44	0.53790	C-type lectin fold (1);C-type lectin-like (1);C-type lectin (3);	0.552983	0.13608	U	0.375340	T	0.60287	0.2257	L	0.53671	1.685	0.47994	D	0.999562	P;P;D	0.53885	0.944;0.954;0.963	P;P;P	0.53809	0.696;0.732;0.735	T	0.62129	-0.6919	10	0.87932	D	0	-0.4083	12.0913	0.53728	0.0:0.0:0.8281:0.1719	.	1079;1079;1079	O60449-3;O60449;O60449-2	.;LY75_HUMAN;.	F	1079	ENSP00000451511:S1079F;ENSP00000451446:S1079F;ENSP00000263636:S1079F;ENSP00000423463:S1079F;ENSP00000421035:S1079F	ENSP00000423463:S1079F	S	-	2	0	LY75;LY75-CD302	160407046	0.999000	0.42202	0.998000	0.56505	0.906000	0.53458	4.201000	0.58439	2.521000	0.84997	0.650000	0.86243	TCC		PASS	0.363	LY75-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000255035.1			24	63	24	63	---	---	---	---
PSMD14	10213	broad.mit.edu	37	2	162224035	162224035	+	Missense_Mutation	SNP	A	A	G			TCGA-22-4595-01A-01D-1267-08	TCGA-22-4595-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7fcf5123-2d1b-4666-9d39-a1aaf63cf954	850e8a4d-e0f6-4bd6-80f5-1c20e2b0e4f9	g.chr2:162224035A>G	ENST00000409682.3	+	4	799	c.95A>G	c.(94-96)tAt>tGt	p.Y32C		NM_005805.5	NP_005796.1	O00487	PSDE_HUMAN	proteasome (prosome, macropain) 26S subunit, non-ATPase, 14	32	MPN.				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|double-strand break repair via homologous recombination (GO:0000724)|double-strand break repair via nonhomologous end joining (GO:0006303)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of endopeptidase activity (GO:0010950)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein K63-linked deubiquitination (GO:0070536)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of proteasomal protein catabolic process (GO:0061136)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|ubiquitin-dependent protein catabolic process (GO:0006511)|viral process (GO:0016032)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|proteasome accessory complex (GO:0022624)|proteasome complex (GO:0000502)|proteasome regulatory particle, lid subcomplex (GO:0008541)	endopeptidase activator activity (GO:0061133)|metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)|proteasome binding (GO:0070628)|ubiquitin thiolesterase activity (GO:0004221)	p.Y32C(1)		breast(1)|endometrium(1)|large_intestine(2)|lung(6)|prostate(2)	12						GAACAAGTCTATATCTCTTCC	0.358																																						uc002ubu.2																			1	Substitution - Missense(1)		lung(1)	breast(1)	1						c.(94-96)TAT>TGT		proteasome 26S subunit, non-ATPase 14							60.0	60.0	60.0					2																	162224035		1857	4100	5957	SO:0001583	missense	10213				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K63-linked deubiquitination|regulation of apoptosis|regulation of cellular amino acid metabolic process|regulation of proteasomal protein catabolic process|S phase of mitotic cell cycle|viral reproduction	proteasome complex	endopeptidase activator activity|metal ion binding|metallopeptidase activity|proteasome binding|ubiquitin thiolesterase activity	g.chr2:162224035A>G	U86782	CCDS46437.1	2q14.3	2008-05-22			ENSG00000115233	ENSG00000115233		"""Proteasome (prosome, macropain) subunits"""	16889	protein-coding gene	gene with protein product		607173				9374539	Standard	NM_005805		Approved	POH1, pad1, Rpn11	uc002ubu.3	O00487	OTTHUMG00000153882	ENST00000409682.3:c.95A>G	2.37:g.162224035A>G	ENSP00000386541:p.Tyr32Cys						p.Y32C	NM_005805	NP_005796	O00487	PSDE_HUMAN			4	562	+			32			MPN.		B3KNW2|O00176	Missense_Mutation	SNP	ENST00000409682.3	37	c.95A>G	CCDS46437.1	.	.	.	.	.	.	.	.	.	.	A	24.6	4.547900	0.86022	.	.	ENSG00000115233	ENST00000409682;ENST00000437630	T;T	0.54479	0.57;0.57	5.54	5.54	0.83059	.	0.000000	0.85682	D	0.000000	T	0.73505	0.3595	M	0.81802	2.56	0.80722	D	1	D	0.67145	0.996	D	0.70016	0.967	T	0.77819	-0.2446	10	0.72032	D	0.01	-6.1887	15.6679	0.77247	1.0:0.0:0.0:0.0	.	32	O00487	PSDE_HUMAN	C	32	ENSP00000386541:Y32C;ENSP00000399311:Y32C	ENSP00000386541:Y32C	Y	+	2	0	PSMD14	161932281	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.023000	0.93683	2.092000	0.63282	0.482000	0.46254	TAT		PASS	0.358	PSMD14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000332833.1	NM_005805		6	11	6	11	---	---	---	---
SCN1A	6323	broad.mit.edu	37	2	166915199	166915199	+	Splice_Site	SNP	C	C	A			TCGA-22-4595-01A-01D-1267-08	TCGA-22-4595-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7fcf5123-2d1b-4666-9d39-a1aaf63cf954	850e8a4d-e0f6-4bd6-80f5-1c20e2b0e4f9	g.chr2:166915199C>A	ENST00000303395.4	-	2	264		c.e2-1		SCN1A_ENST00000423058.2_Splice_Site|SCN1A_ENST00000409050.1_Splice_Site|AC010127.3_ENST00000595647.1_RNA|AC010127.3_ENST00000599041.1_RNA|SCN1A_ENST00000375405.3_Splice_Site|AC010127.3_ENST00000595268.1_RNA			P35498	SCN1A_HUMAN	sodium channel, voltage-gated, type I, alpha subunit						adult walking behavior (GO:0007628)|membrane depolarization during action potential (GO:0086010)|neuromuscular process controlling posture (GO:0050884)|neuronal action potential (GO:0019228)|neuronal action potential propagation (GO:0019227)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	axon initial segment (GO:0043194)|intercalated disc (GO:0014704)|neuronal cell body (GO:0043025)|node of Ranvier (GO:0033268)|plasma membrane (GO:0005886)|T-tubule (GO:0030315)|voltage-gated sodium channel complex (GO:0001518)|Z disc (GO:0030018)	voltage-gated sodium channel activity (GO:0005248)	p.?(2)		NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1)	200					Dronedarone(DB04855)|Nitrazepam(DB01595)|Permethrin(DB04930)|Phenacemide(DB01121)|Phenazopyridine(DB01438)|Phenytoin(DB00252)|Topiramate(DB00273)|Valproic Acid(DB00313)|Zonisamide(DB00909)	CTATAAAAGTCTGTAAGACAG	0.343																																						uc010zcz.1																			2	Unknown(2)		lung(2)	ovary(6)|skin(6)|large_intestine(1)	13	GRCh37	CS072281	SCN1A	S		c.e2-1		sodium channel, voltage-gated, type I, alpha	Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909)						55.0	54.0	54.0					2																	166915199		2203	4300	6503	SO:0001630	splice_region_variant	6323					voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr2:166915199C>A	AB093548	CCDS33316.1, CCDS54413.1, CCDS54414.1	2q24.3	2014-09-17	2007-01-23		ENSG00000144285	ENSG00000144285		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10585	protein-coding gene	gene with protein product		182389	"""febrile convulsions 3"""	SCN1, FEB3		8062593, 16382098, 11823106	Standard	NM_006920		Approved	Nav1.1, GEFSP2, HBSCI, NAC1, SMEI	uc021vsb.1	P35498	OTTHUMG00000044173	ENST00000303395.4:c.265-1G>T	2.37:g.166915199C>A						SCN1A_uc002udo.3_5'Flank|SCN1A_uc010fpk.2_5'Flank	p.T89_splice	NM_006920	NP_008851	P35498	SCN1A_HUMAN			2	283	-								E9PG49|Q16172|Q585T7|Q8IUJ6|Q96LA3|Q9C008	Splice_Site	SNP	ENST00000303395.4	37	c.265_splice	CCDS54413.1	.	.	.	.	.	.	.	.	.	.	C	23.2	4.382665	0.82792	.	.	ENSG00000144285	ENST00000423058;ENST00000303395;ENST00000375405;ENST00000409050	.	.	.	4.57	4.57	0.56435	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.8912	0.88872	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	SCN1A	166623445	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.559000	0.82265	2.530000	0.85305	0.591000	0.81541	.		PASS	0.343	SCN1A-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000102661.1	NM_006920	Intron	11	33	11	33	---	---	---	---
TTN	7273	broad.mit.edu	37	2	179633453	179633453	+	Missense_Mutation	SNP	T	T	C			TCGA-22-4595-01A-01D-1267-08	TCGA-22-4595-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7fcf5123-2d1b-4666-9d39-a1aaf63cf954	850e8a4d-e0f6-4bd6-80f5-1c20e2b0e4f9	g.chr2:179633453T>C	ENST00000591111.1	-	38	9334	c.9110A>G	c.(9109-9111)gAc>gGc	p.D3037G	TTN_ENST00000460472.2_Missense_Mutation_p.D2991G|TTN_ENST00000589042.1_Missense_Mutation_p.D3037G|TTN_ENST00000359218.5_Missense_Mutation_p.D2991G|TTN_ENST00000342175.6_Missense_Mutation_p.D2991G|TTN_ENST00000360870.5_Missense_Mutation_p.D3037G|TTN_ENST00000342992.6_Missense_Mutation_p.D3037G|TTN-AS1_ENST00000610005.1_RNA|TTN-AS1_ENST00000585451.1_RNA			Q8WZ42	TITIN_HUMAN	titin	13369	Ig-like 17.				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.D2991G(3)|p.D3037G(3)		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)			AAAGGTGTAGTCAGCAGCATC	0.408																																						uc010zfg.1																			6	Substitution - Missense(6)		lung(6)	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.(9109-9111)GAC>GGC		titin isoform N2-A							123.0	107.0	112.0					2																	179633453		2203	4300	6503	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179633453T>C	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.9110A>G	2.37:g.179633453T>C	ENSP00000465570:p.Asp3037Gly					TTN_uc010zfh.1_Missense_Mutation_p.D2991G|TTN_uc010zfi.1_Missense_Mutation_p.D2991G|TTN_uc010zfj.1_Missense_Mutation_p.D2991G|TTN_uc002unb.2_Missense_Mutation_p.D3037G	p.D3037G	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		38	9334	-			3037					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.9110A>G		.	.	.	.	.	.	.	.	.	.	T	15.90	2.968828	0.53614	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127;ENST00000360870	T;T;T;T;T	0.67523	-0.27;-0.27;-0.27;-0.27;-0.27	5.71	5.71	0.89125	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.65964	0.2742	L	0.56199	1.76	0.39465	D	0.967628	B;B;B;B;B	0.30361	0.117;0.117;0.117;0.117;0.277	B;B;B;B;B	0.33042	0.041;0.041;0.076;0.076;0.157	T	0.69194	-0.5209	9	0.87932	D	0	.	16.2778	0.82654	0.0:0.0:0.0:1.0	.	2991;2991;2991;3037;3037	D3DPF9;E7EQE6;E7ET18;Q8WZ42;Q8WZ42-6	.;.;.;TITIN_HUMAN;.	G	3037;2991;2991;2991;2991;3037	ENSP00000343764:D3037G;ENSP00000434586:D2991G;ENSP00000340554:D2991G;ENSP00000352154:D2991G;ENSP00000354117:D3037G	ENSP00000340554:D2991G	D	-	2	0	TTN	179341698	1.000000	0.71417	0.998000	0.56505	0.982000	0.71751	5.886000	0.69743	2.306000	0.77630	0.533000	0.62120	GAC		PASS	0.408	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		11	40	11	40	---	---	---	---
PLCL1	5334	broad.mit.edu	37	2	198950210	198950210	+	Missense_Mutation	SNP	C	C	A			TCGA-22-4595-01A-01D-1267-08	TCGA-22-4595-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7fcf5123-2d1b-4666-9d39-a1aaf63cf954	850e8a4d-e0f6-4bd6-80f5-1c20e2b0e4f9	g.chr2:198950210C>A	ENST00000428675.1	+	2	2367	c.1969C>A	c.(1969-1971)Cag>Aag	p.Q657K	PLCL1_ENST00000437704.2_Missense_Mutation_p.Q559K	NM_006226.3	NP_006217.3	Q15111	PLCL1_HUMAN	phospholipase C-like 1	657	PI-PLC Y-box. {ECO:0000255|PROSITE- ProRule:PRU00271}.				gamma-aminobutyric acid signaling pathway (GO:0007214)|intracellular signal transduction (GO:0035556)|lipid metabolic process (GO:0006629)|positive regulation of receptor binding (GO:1900122)|regulation of peptidyl-serine phosphorylation (GO:0033135)|regulation of synaptic transmission, GABAergic (GO:0032228)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|inositol 1,4,5 trisphosphate binding (GO:0070679)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|signal transducer activity (GO:0004871)	p.Q657K(1)|p.Q559K(1)		autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(14)|lung(44)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	80					Quinacrine(DB01103)	CTTGAATCCACAGGACTTTTG	0.418																																						uc010fsp.2																			2	Substitution - Missense(2)		lung(2)	ovary(1)|skin(1)	2						c.(1969-1971)CAG>AAG		RecName: Full=Inactive phospholipase C-like protein 1;          Short=PLC-L1; AltName: Full=Phospholipase C-deleted in lung carcinoma; AltName: Full=Phospholipase C-related but catalytically inactive protein;          Short=PRIP;	Quinacrine(DB01103)						42.0	45.0	44.0					2																	198950210		2203	4300	6503	SO:0001583	missense	5334				intracellular signal transduction|lipid metabolic process	cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity	g.chr2:198950210C>A	D42108	CCDS2326.1, CCDS2326.2	2q33	2014-06-13	2002-02-18	2002-02-22	ENSG00000115896	ENSG00000115896			9063	protein-coding gene	gene with protein product	"""phospholipase C related, but catalytically inactive protein"", ""protein phosphatase 1, regulatory subunit 127"""	600597	"""phospholipase C, epsilon"""	PLCE		7633416	Standard	NM_006226		Approved	PLC-L, PLCL, PRIP, PPP1R127	uc010fsp.3	Q15111	OTTHUMG00000132750	ENST00000428675.1:c.1969C>A	2.37:g.198950210C>A	ENSP00000402861:p.Gln657Lys					PLCL1_uc002uuv.3_Missense_Mutation_p.Q578K	p.Q657K	NM_001114661	NP_001108133	Q15111	PLCL1_HUMAN			2	2260	+			657			PI-PLC Y-box.		Q3MJ90|Q53SD3|Q7Z3S3	Missense_Mutation	SNP	ENST00000428675.1	37	c.1969C>A	CCDS2326.2	.	.	.	.	.	.	.	.	.	.	C	18.51	3.638667	0.67130	.	.	ENSG00000115896	ENST00000428675;ENST00000437704	T;T	0.54279	0.58;0.58	5.36	5.36	0.76844	PLC-like phosphodiesterase, TIM beta/alpha-barrel domain (2);Phospholipase C, phosphatidylinositol-specific, Y domain (3);	0.000000	0.64402	D	0.000008	T	0.81837	0.4907	H	0.95328	3.655	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.83275	0.996;0.996	D	0.86827	0.2008	9	.	.	.	.	19.2914	0.94102	0.0:1.0:0.0:0.0	.	657;583	Q15111;B4DYZ4	PLCL1_HUMAN;.	K	657;559	ENSP00000402861:Q657K;ENSP00000414138:Q559K	.	Q	+	1	0	PLCL1	198658455	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.641000	0.83368	2.793000	0.96121	0.561000	0.74099	CAG		PASS	0.418	PLCL1-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340210.1	NM_006226		29	72	29	72	---	---	---	---
STRADB	55437	broad.mit.edu	37	2	202337718	202337718	+	Silent	SNP	G	G	A			TCGA-22-4595-01A-01D-1267-08	TCGA-22-4595-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7fcf5123-2d1b-4666-9d39-a1aaf63cf954	850e8a4d-e0f6-4bd6-80f5-1c20e2b0e4f9	g.chr2:202337718G>A	ENST00000194530.3	+	5	599	c.234G>A	c.(232-234)cgG>cgA	p.R78R	STRADB_ENST00000392249.2_Silent_p.R78R	NM_001206864.1|NM_018571.5	NP_001193793.1|NP_061041.2	Q9C0K7	STRAB_HUMAN	STE20-related kinase adaptor beta	78	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of protein kinase activity (GO:0032147)|cell cycle arrest (GO:0007050)|cell morphogenesis (GO:0000902)|insulin receptor signaling pathway (GO:0008286)|JNK cascade (GO:0007254)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|protein export from nucleus (GO:0006611)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|transferase activity, transferring phosphorus-containing groups (GO:0016772)	p.R78R(2)		breast(1)|large_intestine(2)|lung(5)|prostate(1)|skin(3)|stomach(1)	13						ATCTTGCACGGCATACTCCCA	0.353																																						uc002uyd.3																			2	Substitution - coding silent(2)		lung(2)	skin(2)|stomach(1)|lung(1)	4						c.(232-234)CGG>CGA		STE20-related kinase adaptor beta							127.0	124.0	125.0					2																	202337718		2203	4300	6503	SO:0001819	synonymous_variant	55437				activation of protein kinase activity|cell cycle arrest|insulin receptor signaling pathway|protein export from nucleus|regulation of fatty acid oxidation	cytosol|nucleus	ATP binding|protein binding|protein kinase activity	g.chr2:202337718G>A	AB038950	CCDS2348.1, CCDS56161.1	2q33.1	2010-09-30	2008-09-15	2008-09-15	ENSG00000082146	ENSG00000082146			13205	protein-coding gene	gene with protein product		607333	"""amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 2"""	ALS2CR2		11161814, 14511394	Standard	NM_018571		Approved	CALS-21, PAPK, ILPIPA, ILPIP	uc002uyd.4	Q9C0K7	OTTHUMG00000132831	ENST00000194530.3:c.234G>A	2.37:g.202337718G>A							p.R78R	NM_018571	NP_061041	Q9C0K7	STRAB_HUMAN			5	599	+			78			Protein kinase.		Q5BKY7|Q9P1L0	Silent	SNP	ENST00000194530.3	37	c.234G>A	CCDS2348.1																																																																																				PASS	0.353	STRADB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256297.1	NM_018571		5	449	5	449	---	---	---	---
SPAG16	79582	broad.mit.edu	37	2	214727276	214727276	+	Missense_Mutation	SNP	G	G	T			TCGA-22-4595-01A-01D-1267-08	TCGA-22-4595-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7fcf5123-2d1b-4666-9d39-a1aaf63cf954	850e8a4d-e0f6-4bd6-80f5-1c20e2b0e4f9	g.chr2:214727276G>T	ENST00000331683.5	+	11	1233	c.1138G>T	c.(1138-1140)Ggc>Tgc	p.G380C	SPAG16_ENST00000374309.3_Missense_Mutation_p.G286C	NM_024532.4	NP_078808.3	Q8N0X2	SPG16_HUMAN	sperm associated antigen 16	380					cilium assembly (GO:0042384)|spermatogenesis (GO:0007283)	axoneme (GO:0005930)|microtubule cytoskeleton (GO:0015630)|motile cilium (GO:0031514)|nucleus (GO:0005634)		p.G380C(1)		endometrium(4)|kidney(1)|large_intestine(15)|lung(27)|ovary(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	56		Renal(323;0.00461)		UCEC - Uterine corpus endometrioid carcinoma (47;0.0525)|Epithelial(149;7.07e-07)|all cancers(144;7.96e-05)|Lung(261;0.00255)|LUSC - Lung squamous cell carcinoma(224;0.00599)		GAAGGTGTTGGGCCTTCCAAA	0.532																																						uc002veq.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(1138-1140)GGC>TGC		sperm associated antigen 16 isoform 1							133.0	111.0	119.0					2																	214727276		2203	4300	6503	SO:0001583	missense	79582				cilium assembly	cilium axoneme|flagellar axoneme		g.chr2:214727276G>T	AF310672	CCDS2396.1, CCDS46508.1	2q34	2013-05-21			ENSG00000144451	ENSG00000144451		"""WD repeat domain containing"""	23225	protein-coding gene	gene with protein product		612173				12391165, 11867345	Standard	NM_024532		Approved	PF20, FLJ22724, DKFZp666P1710, WDR29	uc002veq.4	Q8N0X2	OTTHUMG00000133015	ENST00000331683.5:c.1138G>T	2.37:g.214727276G>T	ENSP00000332592:p.Gly380Cys					SPAG16_uc010fuz.1_Missense_Mutation_p.G231C|SPAG16_uc002ver.2_Missense_Mutation_p.G326C|SPAG16_uc010zjk.1_Missense_Mutation_p.G286C	p.G380C	NM_024532	NP_078808	Q8N0X2	SPG16_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (47;0.0525)|Epithelial(149;7.07e-07)|all cancers(144;7.96e-05)|Lung(261;0.00255)|LUSC - Lung squamous cell carcinoma(224;0.00599)	11	1230	+		Renal(323;0.00461)	380			WD 1.		Q498B7|Q658W1|Q68DB3|Q6I9Z6|Q8N9C7|Q9H601	Missense_Mutation	SNP	ENST00000331683.5	37	c.1138G>T	CCDS2396.1	.	.	.	.	.	.	.	.	.	.	G	13.10	2.135695	0.37728	.	.	ENSG00000144451	ENST00000331683;ENST00000374309;ENST00000451561	T;T;T	0.81415	-1.49;-1.49;-1.49	5.74	1.99	0.26369	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.331691	0.26731	N	0.022788	T	0.82176	0.4980	L	0.54323	1.7	0.33837	D	0.630933	D;D;P;D	0.69078	0.997;0.997;0.944;0.997	P;P;P;P	0.57283	0.817;0.719;0.662;0.817	D	0.84301	0.0505	10	0.66056	D	0.02	.	8.9299	0.35663	0.2819:0.0:0.7181:0.0	.	286;231;320;380	B4DYB5;Q8N0X2-2;Q4G1A2;Q8N0X2	.;.;.;SPG16_HUMAN	C	380;286;66	ENSP00000332592:G380C;ENSP00000363428:G286C;ENSP00000416600:G66C	ENSP00000332592:G380C	G	+	1	0	SPAG16	214435521	0.957000	0.32711	0.237000	0.24090	0.136000	0.21042	1.438000	0.35002	0.091000	0.17302	0.643000	0.83706	GGC		PASS	0.532	SPAG16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256601.2	NM_024532		26	105	26	105	---	---	---	---
VWC2L	402117	broad.mit.edu	37	2	215279254	215279254	+	Missense_Mutation	SNP	A	A	G			TCGA-22-4595-01A-01D-1267-08	TCGA-22-4595-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7fcf5123-2d1b-4666-9d39-a1aaf63cf954	850e8a4d-e0f6-4bd6-80f5-1c20e2b0e4f9	g.chr2:215279254A>G	ENST00000312504.5	+	2	1139	c.337A>G	c.(337-339)Aaa>Gaa	p.K113E	AC107218.3_ENST00000412896.1_RNA|VWC2L_ENST00000427124.1_Missense_Mutation_p.K113E|AC107218.3_ENST00000437883.1_RNA	NM_001080500.2	NP_001073969.1	B2RUY7	VWC2L_HUMAN	von Willebrand factor C domain containing protein 2-like	113					negative regulation of BMP signaling pathway (GO:0030514)|positive regulation of neuron differentiation (GO:0045666)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|extracellular space (GO:0005615)|synapse (GO:0045202)		p.K113E(1)		breast(1)|endometrium(1)|large_intestine(3)|lung(10)|prostate(1)	16						CAAAGAAGTAAAAAACTTCTG	0.373																																						uc002vet.2																			1	Substitution - Missense(1)		lung(1)		0						c.(337-339)AAA>GAA		von Willebrand factor C domain-containing							45.0	43.0	44.0					2																	215279254		1853	4094	5947	SO:0001583	missense	402117					extracellular region		g.chr2:215279254A>G	AB374231	CCDS46509.1	2q34-q35	2011-01-25	2011-01-25		ENSG00000174453	ENSG00000174453			37203	protein-coding gene	gene with protein product			"""von Willebrand factor C domain-containing protein 2-like"""				Standard	NM_001080500		Approved		uc002vet.2	B2RUY7	OTTHUMG00000154811	ENST00000312504.5:c.337A>G	2.37:g.215279254A>G	ENSP00000308976:p.Lys113Glu					VWC2L_uc010zjl.1_Missense_Mutation_p.K113E	p.K113E	NM_001080500	NP_001073969	B2RUY7	VWC2L_HUMAN			2	467	+			113					A6NC69|B2RUW7|B7X8X1	Missense_Mutation	SNP	ENST00000312504.5	37	c.337A>G	CCDS46509.1	.	.	.	.	.	.	.	.	.	.	A	21.5	4.153668	0.78114	.	.	ENSG00000174453	ENST00000312504;ENST00000427124	T;T	0.19394	2.15;2.15	5.51	5.51	0.81932	.	0.000000	0.85682	D	0.000000	T	0.38772	0.1053	L	0.49350	1.555	0.45899	D	0.998747	D;D	0.63046	0.974;0.992	D;P	0.67725	0.953;0.893	T	0.03852	-1.0998	10	0.27082	T	0.32	-5.2576	15.924	0.79597	1.0:0.0:0.0:0.0	.	113;113	B7ZW27;B2RUY7	.;VWC2L_HUMAN	E	113	ENSP00000308976:K113E;ENSP00000403779:K113E	ENSP00000308976:K113E	K	+	1	0	VWC2L	214987499	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.256000	0.78350	2.217000	0.71921	0.533000	0.62120	AAA		PASS	0.373	VWC2L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337175.1	NM_001080500		9	36	9	36	---	---	---	---
CYP27A1	1593	broad.mit.edu	37	2	219679732	219679732	+	Silent	SNP	G	G	A			TCGA-22-4595-01A-01D-1267-08	TCGA-22-4595-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7fcf5123-2d1b-4666-9d39-a1aaf63cf954	850e8a4d-e0f6-4bd6-80f5-1c20e2b0e4f9	g.chr2:219679732G>A	ENST00000258415.4	+	9	2002	c.1575G>A	c.(1573-1575)caG>caA	p.Q525Q		NM_000784.3	NP_000775.1	Q02318	CP27A_HUMAN	cytochrome P450, family 27, subfamily A, polypeptide 1	525					bile acid biosynthetic process (GO:0006699)|bile acid metabolic process (GO:0008206)|cholesterol metabolic process (GO:0008203)|small molecule metabolic process (GO:0044281)|sterol metabolic process (GO:0016125)|xenobiotic metabolic process (GO:0006805)	mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)	cholestanetriol 26-monooxygenase activity (GO:0047749)|cholesterol 26-hydroxylase activity (GO:0031073)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|steroid hydroxylase activity (GO:0008395)|vitamin D3 25-hydroxylase activity (GO:0030343)	p.Q525Q(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)|prostate(3)|urinary_tract(1)	26		Renal(207;0.0474)		Epithelial(149;9.48e-07)|all cancers(144;0.000171)|LUSC - Lung squamous cell carcinoma(224;0.00813)|Lung(261;0.00981)	Chenodeoxycholic acid(DB06777)|Cholecalciferol(DB00169)|Ergocalciferol(DB00153)|Pegvisomant(DB00082)	TGGGCCTGCAGTTCCTGCAGA	0.592																																						uc002viz.3																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(1573-1575)CAG>CAA		cytochrome P450, family 27, subfamily A,	Cholecalciferol(DB00169)						101.0	92.0	95.0					2																	219679732		2203	4300	6503	SO:0001819	synonymous_variant	1593				bile acid biosynthetic process|xenobiotic metabolic process	mitochondrial matrix	cholestanetriol 26-monooxygenase activity|electron carrier activity|heme binding	g.chr2:219679732G>A	BC017044	CCDS2423.1	2q35	2013-09-19	2003-01-14		ENSG00000135929	ENSG00000135929		"""Cytochrome P450s"""	2605	protein-coding gene	gene with protein product	"""cerebrotendinous xanthomatosis"""	606530	"""cytochrome P450, subfamily XXVIIA (steroid 27-hydroxylase, cerebrotendinous xanthomatosis), polypeptide 1"""	CYP27		2019602	Standard	NM_000784		Approved	CTX, CP27	uc002viz.4	Q02318	OTTHUMG00000048238	ENST00000258415.4:c.1575G>A	2.37:g.219679732G>A							p.Q525Q	NM_000784	NP_000775	Q02318	CP27A_HUMAN		Epithelial(149;9.48e-07)|all cancers(144;0.000171)|LUSC - Lung squamous cell carcinoma(224;0.00813)|Lung(261;0.00981)	9	2009	+		Renal(207;0.0474)	525					A8K303|Q6LDB4|Q86YQ6	Silent	SNP	ENST00000258415.4	37	c.1575G>A	CCDS2423.1																																																																																				PASS	0.592	CYP27A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109734.4			42	65	42	65	---	---	---	---
HDLBP	3069	broad.mit.edu	37	2	242192429	242192429	+	Missense_Mutation	SNP	C	C	T			TCGA-22-4595-01A-01D-1267-08	TCGA-22-4595-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7fcf5123-2d1b-4666-9d39-a1aaf63cf954	850e8a4d-e0f6-4bd6-80f5-1c20e2b0e4f9	g.chr2:242192429C>T	ENST00000391975.1	-	11	1542	c.1315G>A	c.(1315-1317)Gag>Aag	p.E439K	HDLBP_ENST00000476807.1_5'Flank|HDLBP_ENST00000427183.2_Missense_Mutation_p.E406K|HDLBP_ENST00000310931.4_Missense_Mutation_p.E439K|HDLBP_ENST00000391976.2_Missense_Mutation_p.E439K	NM_203346.3	NP_976221	Q00341	VIGLN_HUMAN	high density lipoprotein binding protein	439	KH 4. {ECO:0000255|PROSITE- ProRule:PRU00117}.				cholesterol metabolic process (GO:0008203)|lipid transport (GO:0006869)	cytoplasm (GO:0005737)|high-density lipoprotein particle (GO:0034364)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	lipid binding (GO:0008289)|poly(A) RNA binding (GO:0044822)	p.E439K(1)		breast(7)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(11)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	44		all_cancers(19;7.77e-41)|all_epithelial(40;1.74e-18)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00338)|Ovarian(221;0.00556)|Lung NSC(271;0.0121)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;8.13e-34)|all cancers(36;4.71e-31)|OV - Ovarian serous cystadenocarcinoma(60;2.34e-15)|Kidney(56;3.72e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.76e-08)|BRCA - Breast invasive adenocarcinoma(100;3.38e-06)|Lung(119;0.000109)|LUSC - Lung squamous cell carcinoma(224;0.000964)|Colorectal(34;0.0132)|COAD - Colon adenocarcinoma(134;0.0928)		ATGTTGATCTCCACATAGTCC	0.562																																						uc002waz.2																			1	Substitution - Missense(1)		lung(1)	breast(3)|skin(1)	4						c.(1315-1317)GAG>AAG		high density lipoprotein binding protein							184.0	145.0	158.0					2																	242192429		2203	4300	6503	SO:0001583	missense	3069				cholesterol metabolic process|lipid transport	cytoplasm|high-density lipoprotein particle|nucleus|plasma membrane	lipid binding|protein binding|RNA binding	g.chr2:242192429C>T		CCDS2547.1, CCDS58760.1	2q37.3	2008-07-18	2008-07-18		ENSG00000115677	ENSG00000115677			4857	protein-coding gene	gene with protein product		142695	"""vigilin"""	VGL		1318310, 8390966	Standard	NM_005336		Approved	HBP	uc002waz.3	Q00341	OTTHUMG00000133391	ENST00000391975.1:c.1315G>A	2.37:g.242192429C>T	ENSP00000375836:p.Glu439Lys					HDLBP_uc002wba.2_Missense_Mutation_p.E439K|HDLBP_uc002wbb.2_Missense_Mutation_p.E391K	p.E439K	NM_203346	NP_976221	Q00341	VIGLN_HUMAN		Epithelial(32;8.13e-34)|all cancers(36;4.71e-31)|OV - Ovarian serous cystadenocarcinoma(60;2.34e-15)|Kidney(56;3.72e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.76e-08)|BRCA - Breast invasive adenocarcinoma(100;3.38e-06)|Lung(119;0.000109)|LUSC - Lung squamous cell carcinoma(224;0.000964)|Colorectal(34;0.0132)|COAD - Colon adenocarcinoma(134;0.0928)	11	1543	-		all_cancers(19;7.77e-41)|all_epithelial(40;1.74e-18)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00338)|Ovarian(221;0.00556)|Lung NSC(271;0.0121)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244)	439			KH 4.		B4DTQ2|E7EM71|Q53QU2|Q9UCY3	Missense_Mutation	SNP	ENST00000391975.1	37	c.1315G>A	CCDS2547.1	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	C|C|C	35|35|35	5.451799|5.451799|5.451799	0.96205|0.96205|0.96205	.|.|.	.|.|.	ENSG00000115677|ENSG00000115677|ENSG00000115677	ENST00000391975;ENST00000391976;ENST00000310931;ENST00000427183|ENST00000373292|ENST00000453141	T;T;T;T|.|.	0.31769|.|.	1.48;1.48;1.48;1.48|.|.	5.59|5.59|5.59	5.59|5.59|5.59	0.84812|0.84812|0.84812	K Homology (1);K Homology, type 1, subgroup (1);K Homology, type 1 (1);|.|.	0.000000|.|.	0.85682|.|.	D|.|.	0.000000|.|.	T|T|.	0.71091|0.71091|.	0.3299|0.3299|.	L|L|L	0.54965|0.54965|0.54965	1.715|1.715|1.715	0.80722|0.80722|0.80722	D|D|D	1|1|1	D;D|.|.	0.76494|.|.	0.988;0.999|.|.	D;D|.|.	0.74348|.|.	0.934;0.983|.|.	T|T|.	0.67070|0.67070|.	-0.5763|-0.5763|.	10|5|.	0.32370|.|.	T|.|.	0.25|.|.	-43.4927|-43.4927|-43.4927	18.1452|18.1452|18.1452	0.89652|0.89652|0.89652	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.|.	406;439|.|.	E7EM71;Q00341|.|.	.;VIGLN_HUMAN|.|.	K|E|X	439;439;439;406|247|316	ENSP00000375836:E439K;ENSP00000375837:E439K;ENSP00000312042:E439K;ENSP00000399139:E406K|.|.	ENSP00000312042:E439K|.|.	E|G|W	-|-|-	1|2|3	0|0|0	HDLBP|HDLBP|HDLBP	241841102|241841102|241841102	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	0.994000|0.994000|0.994000	0.49952|0.49952|0.49952	0.827000|0.827000|0.827000	0.46813|0.46813|0.46813	7.070000|7.070000|7.070000	0.76763|0.76763|0.76763	2.793000|2.793000|2.793000	0.96121|0.96121|0.96121	0.655000|0.655000|0.655000	0.94253|0.94253|0.94253	GAG|GGA|TGG		PASS	0.562	HDLBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257245.5	NM_203346		55	186	55	186	---	---	---	---
CHL1	10752	broad.mit.edu	37	3	361468	361468	+	Silent	SNP	G	G	T			TCGA-22-4595-01A-01D-1267-08	TCGA-22-4595-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7fcf5123-2d1b-4666-9d39-a1aaf63cf954	850e8a4d-e0f6-4bd6-80f5-1c20e2b0e4f9	g.chr3:361468G>T	ENST00000256509.2	+	3	651	c.9G>T	c.(7-9)ccG>ccT	p.P3P	CHL1_ENST00000397491.2_Silent_p.P3P	NM_001253387.1|NM_001253388.1|NM_006614.3	NP_001240316.1|NP_001240317.1|NP_006605.2	Q96FC9	DDX11_HUMAN	cell adhesion molecule L1-like	0					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|ATP catabolic process (GO:0006200)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|sister chromatid cohesion (GO:0007062)|viral process (GO:0016032)	midbody (GO:0030496)|nuclear chromatin (GO:0000790)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle pole (GO:0000922)	4 iron, 4 sulfur cluster binding (GO:0051539)|ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA-dependent ATPase activity (GO:0008094)|double-stranded DNA binding (GO:0003690)|helicase activity (GO:0004386)|metal ion binding (GO:0046872)|RNA binding (GO:0003723)|single-stranded DNA binding (GO:0003697)	p.P3P(1)		NS(1)|central_nervous_system(5)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|lung(31)|ovary(1)|prostate(4)|skin(10)|stomach(1)	93		all_cancers(2;1.14e-06)|all_epithelial(2;0.00367)|all_lung(1;0.061)|Lung NSC(2;0.201)		Epithelial(13;5.36e-06)|all cancers(10;1.4e-05)|OV - Ovarian serous cystadenocarcinoma(96;0.00323)|COAD - Colon adenocarcinoma(1;0.00925)|Colorectal(20;0.0198)		CAATGGAGCCGCTTTTACTTG	0.373																																						uc003bou.2																			1	Substitution - coding silent(1)	p.P3S(1)	lung(1)	skin(5)|central_nervous_system(4)|large_intestine(2)|ovary(1)	12						c.(7-9)CCG>CCT		cell adhesion molecule with homology to L1CAM							72.0	73.0	73.0					3																	361468		2203	4300	6503	SO:0001819	synonymous_variant	10752				axon guidance|cell adhesion|signal transduction	integral to membrane|plasma membrane|proteinaceous extracellular matrix		g.chr3:361468G>T	AF002246	CCDS2556.1, CCDS58812.1, CCDS74887.1	3p26	2013-05-01	2013-05-01		ENSG00000134121	ENSG00000134121		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	1939	protein-coding gene	gene with protein product	"""neural cell adhesion molecule"", ""close homolog of L1"""	607416	"""cell adhesion molecule with homology to L1CAM (close homologue of L1)"", ""cell adhesion molecule with homology to L1CAM (close homolog of L1)"""			9799093	Standard	NM_006614		Approved	CALL, L1CAM2, FLJ44930, MGC132578	uc003bot.3	O00533	OTTHUMG00000090601	ENST00000256509.2:c.9G>T	3.37:g.361468G>T						CHL1_uc003bot.2_Silent_p.P3P|CHL1_uc003bow.1_Silent_p.P3P|CHL1_uc011asi.1_Silent_p.P3P	p.P3P	NM_006614	NP_006605	O00533	CHL1_HUMAN		Epithelial(13;5.36e-06)|all cancers(10;1.4e-05)|OV - Ovarian serous cystadenocarcinoma(96;0.00323)|COAD - Colon adenocarcinoma(1;0.00925)|Colorectal(20;0.0198)	3	280	+		all_cancers(2;1.14e-06)|all_epithelial(2;0.00367)|all_lung(1;0.061)|Lung NSC(2;0.201)	3					Q13333|Q86VQ4|Q86W62|Q92498|Q92770|Q92998|Q92999	Silent	SNP	ENST00000256509.2	37	c.9G>T	CCDS2556.1																																																																																				PASS	0.373	CHL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207155.2	NM_006614		12	17	12	17	---	---	---	---
CHL1	10752	broad.mit.edu	37	3	431056	431056	+	Missense_Mutation	SNP	C	C	G	rs370481959		TCGA-22-4595-01A-01D-1267-08	TCGA-22-4595-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7fcf5123-2d1b-4666-9d39-a1aaf63cf954	850e8a4d-e0f6-4bd6-80f5-1c20e2b0e4f9	g.chr3:431056C>G	ENST00000256509.2	+	20	3011	c.2369C>G	c.(2368-2370)aCg>aGg	p.T790R	CHL1_ENST00000397491.2_Missense_Mutation_p.T774R	NM_001253387.1|NM_001253388.1|NM_006614.3	NP_001240316.1|NP_001240317.1|NP_006605.2	Q96FC9	DDX11_HUMAN	cell adhesion molecule L1-like	0					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|ATP catabolic process (GO:0006200)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|sister chromatid cohesion (GO:0007062)|viral process (GO:0016032)	midbody (GO:0030496)|nuclear chromatin (GO:0000790)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle pole (GO:0000922)	4 iron, 4 sulfur cluster binding (GO:0051539)|ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA-dependent ATPase activity (GO:0008094)|double-stranded DNA binding (GO:0003690)|helicase activity (GO:0004386)|metal ion binding (GO:0046872)|RNA binding (GO:0003723)|single-stranded DNA binding (GO:0003697)	p.T790R(1)		NS(1)|central_nervous_system(5)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|lung(31)|ovary(1)|prostate(4)|skin(10)|stomach(1)	93		all_cancers(2;1.14e-06)|all_epithelial(2;0.00367)|all_lung(1;0.061)|Lung NSC(2;0.201)		Epithelial(13;5.36e-06)|all cancers(10;1.4e-05)|OV - Ovarian serous cystadenocarcinoma(96;0.00323)|COAD - Colon adenocarcinoma(1;0.00925)|Colorectal(20;0.0198)		CGGGTGATGACGCCTGCTGTC	0.527																																						uc003bou.2																			1	Substitution - Missense(1)		lung(1)	skin(5)|central_nervous_system(4)|large_intestine(2)|ovary(1)	12						c.(2320-2322)ACG>AGG		cell adhesion molecule with homology to L1CAM							144.0	123.0	130.0					3																	431056		2203	4300	6503	SO:0001583	missense	10752				axon guidance|cell adhesion|signal transduction	integral to membrane|plasma membrane|proteinaceous extracellular matrix		g.chr3:431056C>G	AF002246	CCDS2556.1, CCDS58812.1, CCDS74887.1	3p26	2013-05-01	2013-05-01		ENSG00000134121	ENSG00000134121		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	1939	protein-coding gene	gene with protein product	"""neural cell adhesion molecule"", ""close homolog of L1"""	607416	"""cell adhesion molecule with homology to L1CAM (close homologue of L1)"", ""cell adhesion molecule with homology to L1CAM (close homolog of L1)"""			9799093	Standard	NM_006614		Approved	CALL, L1CAM2, FLJ44930, MGC132578	uc003bot.3	O00533	OTTHUMG00000090601	ENST00000256509.2:c.2369C>G	3.37:g.431056C>G	ENSP00000256509:p.Thr790Arg					CHL1_uc003bot.2_Missense_Mutation_p.T790R|CHL1_uc003bow.1_Missense_Mutation_p.T774R|CHL1_uc011asi.1_Missense_Mutation_p.T790R	p.T774R	NM_006614	NP_006605	O00533	CHL1_HUMAN		Epithelial(13;5.36e-06)|all cancers(10;1.4e-05)|OV - Ovarian serous cystadenocarcinoma(96;0.00323)|COAD - Colon adenocarcinoma(1;0.00925)|Colorectal(20;0.0198)	19	2592	+		all_cancers(2;1.14e-06)|all_epithelial(2;0.00367)|all_lung(1;0.061)|Lung NSC(2;0.201)	774			Fibronectin type-III 2.|Extracellular (Potential).		Q13333|Q86VQ4|Q86W62|Q92498|Q92770|Q92998|Q92999	Missense_Mutation	SNP	ENST00000256509.2	37	c.2321C>G	CCDS2556.1	.	.	.	.	.	.	.	.	.	.	C	17.43	3.388426	0.61956	.	.	ENSG00000134121	ENST00000256509;ENST00000397491	T;T	0.56611	0.45;0.45	5.4	4.47	0.54385	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.052073	0.64402	D	0.000001	T	0.53367	0.1792	L	0.38175	1.15	0.31232	N	0.696217	P;P;P	0.47677	0.865;0.865;0.899	P;P;P	0.55455	0.717;0.717;0.776	T	0.58896	-0.7555	10	0.62326	D	0.03	.	8.2828	0.31910	0.2676:0.6068:0.1257:0.0	.	774;774;790	B3KX75;O00533;O00533-2	.;CHL1_HUMAN;.	R	790;774	ENSP00000256509:T790R;ENSP00000380628:T774R	ENSP00000256509:T790R	T	+	2	0	CHL1	406056	0.998000	0.40836	0.950000	0.38849	0.828000	0.46876	3.774000	0.55341	2.524000	0.85096	0.591000	0.81541	ACG		PASS	0.527	CHL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207155.2	NM_006614		34	38	34	38	---	---	---	---
GRM7	2917	broad.mit.edu	37	3	7620396	7620396	+	Silent	SNP	G	G	A			TCGA-22-4595-01A-01D-1267-08	TCGA-22-4595-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7fcf5123-2d1b-4666-9d39-a1aaf63cf954	850e8a4d-e0f6-4bd6-80f5-1c20e2b0e4f9	g.chr3:7620396G>A	ENST00000357716.4	+	8	2077	c.1803G>A	c.(1801-1803)ggG>ggA	p.G601G	GRM7_ENST00000403881.1_Silent_p.G601G|GRM7_ENST00000389336.4_Silent_p.G601G|GRM7_ENST00000402647.2_Silent_p.G601G|GRM7_ENST00000486284.1_Silent_p.G601G|GRM7_ENST00000458641.2_3'UTR	NM_000844.3	NP_000835.1	Q14831	GRM7_HUMAN	glutamate receptor, metabotropic 7	601					adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|adult behavior (GO:0030534)|conditioned taste aversion (GO:0001661)|multicellular organismal response to stress (GO:0033555)|negative regulation of adenylate cyclase activity (GO:0007194)|negative regulation of cAMP biosynthetic process (GO:0030818)|negative regulation of glutamate secretion (GO:0014050)|regulation of cyclase activity (GO:0031279)|regulation of synaptic transmission, glutamatergic (GO:0051966)|sensory perception of smell (GO:0007608)|sensory perception of sound (GO:0007605)|short-term memory (GO:0007614)|synaptic transmission (GO:0007268)|transmission of nerve impulse (GO:0019226)	asymmetric synapse (GO:0032279)|axon (GO:0030424)|cell cortex (GO:0005938)|dendrite (GO:0030425)|dendritic shaft (GO:0043198)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic active zone (GO:0048786)|presynaptic membrane (GO:0042734)|receptor complex (GO:0043235)	adenylate cyclase inhibitor activity (GO:0010855)|calcium channel regulator activity (GO:0005246)|calcium ion binding (GO:0005509)|glutamate binding (GO:0016595)|glutamate receptor activity (GO:0008066)|group III metabotropic glutamate receptor activity (GO:0001642)|PDZ domain binding (GO:0030165)|serine binding (GO:0070905)|voltage-gated calcium channel activity (GO:0005245)	p.G601G(1)		breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(35)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	76						CAATGTTGGGGATCATTGCCA	0.532																																						uc003bqm.2																			1	Substitution - coding silent(1)		lung(1)	ovary(4)|lung(3)	7						c.(1801-1803)GGG>GGA		glutamate receptor, metabotropic 7 isoform a	L-Glutamic Acid(DB00142)						101.0	106.0	104.0					3																	7620396		2203	4300	6503	SO:0001819	synonymous_variant	2917				negative regulation of adenylate cyclase activity|negative regulation of cAMP biosynthetic process|negative regulation of glutamate secretion|sensory perception of smell|sensory perception of sound|synaptic transmission	asymmetric synapse|axon|cell cortex|dendritic shaft|integral to plasma membrane|postsynaptic membrane|presynaptic active zone	adenylate cyclase inhibitor activity|calcium ion binding|glutamate binding|group III metabotropic glutamate receptor activity|PDZ domain binding|serine binding	g.chr3:7620396G>A	U92458	CCDS43042.1	3p26-p25	2014-06-12			ENSG00000196277	ENSG00000196277		"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4599	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 87"""	604101				8288585, 8840028	Standard	NM_000844		Approved	GLUR7, GPRC1G, mGlu7, MGLUR7, PPP1R87	uc003bql.2	Q14831	OTTHUMG00000125549	ENST00000357716.4:c.1803G>A	3.37:g.7620396G>A						GRM7_uc011ata.1_RNA|GRM7_uc011atb.1_RNA|GRM7_uc010hcf.2_RNA|GRM7_uc011atc.1_RNA|GRM7_uc010hcg.2_Silent_p.G601G|GRM7_uc003bql.2_Silent_p.G601G|GRM7_uc003bqn.1_Silent_p.G184G|GRM7_uc010hch.1_Silent_p.G112G	p.G601G	NM_000844	NP_000835	Q14831	GRM7_HUMAN			8	2077	+			601			Helical; Name=1; (Potential).		Q8NFS2|Q8NFS3|Q8NFS4	Silent	SNP	ENST00000357716.4	37	c.1803G>A	CCDS43042.1																																																																																				PASS	0.532	GRM7-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000246895.3	NM_000844		86	123	86	123	---	---	---	---
KIF9	64147	broad.mit.edu	37	3	47286396	47286396	+	Missense_Mutation	SNP	C	C	T			TCGA-22-4595-01A-01D-1267-08	TCGA-22-4595-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7fcf5123-2d1b-4666-9d39-a1aaf63cf954	850e8a4d-e0f6-4bd6-80f5-1c20e2b0e4f9	g.chr3:47286396C>T	ENST00000265529.3	-	16	2079	c.1399G>A	c.(1399-1401)Gat>Aat	p.D467N	KIF9_ENST00000444589.2_Missense_Mutation_p.D467N|KIF9-AS1_ENST00000429315.3_RNA|KIF9_ENST00000487440.1_5'UTR|KIF9_ENST00000352910.4_Missense_Mutation_p.D374N|KIF9_ENST00000335044.2_Missense_Mutation_p.D467N|KIF9_ENST00000452770.2_Missense_Mutation_p.D467N			Q9HAQ2	KIF9_HUMAN	kinesin family member 9	467					ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|extracellular matrix disassembly (GO:0022617)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|organelle disassembly (GO:1903008)|regulation of podosome assembly (GO:0071801)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|podosome (GO:0002102)|vesicle (GO:0031982)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|protein dimerization activity (GO:0046983)	p.D467N(1)		central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(15)|skin(4)|stomach(2)|upper_aerodigestive_tract(2)	34		Acute lymphoblastic leukemia(5;0.164)		BRCA - Breast invasive adenocarcinoma(193;0.000284)|KIRC - Kidney renal clear cell carcinoma(197;0.00609)|Kidney(197;0.007)		AGGTGGCCATCAACATCCACA	0.527																																					Colon(44;962 1147 15977 24541)	uc010hjp.2																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(1399-1401)GAT>AAT		kinesin family member 9 isoform 2							70.0	66.0	67.0					3																	47286396		2203	4300	6503	SO:0001583	missense	64147				blood coagulation|microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr3:47286396C>T	AF311212	CCDS2751.1, CCDS2752.1	3p21.31	2008-03-03			ENSG00000088727	ENSG00000088727		"""Kinesins"""	16666	protein-coding gene	gene with protein product		607910				11483511	Standard	NM_022342		Approved	MGC104186	uc003cqx.3	Q9HAQ2	OTTHUMG00000133512	ENST00000265529.3:c.1399G>A	3.37:g.47286396C>T	ENSP00000265529:p.Asp467Asn					KIF9_uc003cqx.2_Missense_Mutation_p.D467N|KIF9_uc003cqy.2_Missense_Mutation_p.D467N|KIF9_uc011bat.1_RNA	p.D467N	NM_001134878	NP_001128350	Q9HAQ2	KIF9_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000284)|KIRC - Kidney renal clear cell carcinoma(197;0.00609)|Kidney(197;0.007)	16	2003	-		Acute lymphoblastic leukemia(5;0.164)	467					Q86Z28|Q9H8A4	Missense_Mutation	SNP	ENST00000265529.3	37	c.1399G>A	CCDS2752.1	.	.	.	.	.	.	.	.	.	.	C	14.10	2.433569	0.43224	.	.	ENSG00000088727	ENST00000335044;ENST00000265529;ENST00000444589;ENST00000452770;ENST00000352910	T;T;T;T;T	0.52057	0.68;0.68;0.68;0.68;0.68	4.66	2.86	0.33363	.	0.549071	0.19553	N	0.111503	T	0.38558	0.1045	L	0.46157	1.445	0.09310	N	1	B;B	0.25772	0.018;0.134	B;B	0.26517	0.011;0.07	T	0.25047	-1.0143	10	0.36615	T	0.2	.	8.9111	0.35555	0.0:0.8163:0.0:0.1837	.	467;467	Q9HAQ2-2;Q9HAQ2	.;KIF9_HUMAN	N	467;467;467;467;374	ENSP00000333942:D467N;ENSP00000265529:D467N;ENSP00000414987:D467N;ENSP00000391100:D467N;ENSP00000292334:D374N	ENSP00000265529:D467N	D	-	1	0	KIF9	47261400	0.402000	0.25311	0.076000	0.20297	0.820000	0.46376	1.362000	0.34148	0.699000	0.31761	0.655000	0.94253	GAT		PASS	0.527	KIF9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257475.2			18	35	18	35	---	---	---	---
ITIH3	3699	broad.mit.edu	37	3	52829632	52829632	+	Missense_Mutation	SNP	C	C	G			TCGA-22-4595-01A-01D-1267-08	TCGA-22-4595-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7fcf5123-2d1b-4666-9d39-a1aaf63cf954	850e8a4d-e0f6-4bd6-80f5-1c20e2b0e4f9	g.chr3:52829632C>G	ENST00000449956.2	+	2	113	c.107C>G	c.(106-108)cCg>cGg	p.P36R	ITIH3_ENST00000416872.2_Missense_Mutation_p.P36R	NM_002217.3	NP_002208.3	Q06033	ITIH3_HUMAN	inter-alpha-trypsin inhibitor heavy chain 3	36	VIT. {ECO:0000255|PROSITE- ProRule:PRU00801}.				hyaluronan metabolic process (GO:0030212)|negative regulation of endopeptidase activity (GO:0010951)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	endopeptidase inhibitor activity (GO:0004866)|serine-type endopeptidase inhibitor activity (GO:0004867)	p.P36R(2)		breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|liver(1)|lung(6)|ovary(2)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	25				BRCA - Breast invasive adenocarcinoma(193;7e-05)|Kidney(197;0.000656)|KIRC - Kidney renal clear cell carcinoma(197;0.000794)|OV - Ovarian serous cystadenocarcinoma(275;0.0496)		CGGAGCCTCCCGGAAGGGGTA	0.567																																						uc003dfv.2																			2	Substitution - Missense(2)		lung(2)	ovary(2)|liver(1)	3						c.(106-108)CCG>CGG		inter-alpha (globulin) inhibitor H3							25.0	31.0	29.0					3																	52829632		2050	4191	6241	SO:0001583	missense	3699				hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity	g.chr3:52829632C>G		CCDS46845.1	3p21.1	2011-10-26	2011-10-26		ENSG00000162267	ENSG00000162267			6168	protein-coding gene	gene with protein product	"""pre-alpha (globulin) inhibitor, H3 polypeptide"", ""inter-alpha-trypsin inhibitor heavy chain H3"""	146650	"""inter-alpha (globulin) inhibitor, H3 polypeptide"", ""inter-alpha (globulin) inhibitor H3"""			2465147, 10100603	Standard	NM_002217		Approved	H3P	uc003dfv.2	Q06033	OTTHUMG00000158956	ENST00000449956.2:c.107C>G	3.37:g.52829632C>G	ENSP00000415769:p.Pro36Arg					ITIH3_uc011bek.1_Missense_Mutation_p.P36R	p.P36R	NM_002217	NP_002208	Q06033	ITIH3_HUMAN		BRCA - Breast invasive adenocarcinoma(193;7e-05)|Kidney(197;0.000656)|KIRC - Kidney renal clear cell carcinoma(197;0.000794)|OV - Ovarian serous cystadenocarcinoma(275;0.0496)	2	143	+			36			VIT.		Q3B7H5|Q53F06|Q6LAM2|Q99085	Missense_Mutation	SNP	ENST00000449956.2	37	c.107C>G	CCDS46845.1	.	.	.	.	.	.	.	.	.	.	C	11.93	1.786584	0.31593	.	.	ENSG00000162267	ENST00000398670;ENST00000536431;ENST00000273291;ENST00000416872;ENST00000449956	T;T	0.02631	4.22;4.87	4.03	2.19	0.27852	Vault protein inter-alpha-trypsin (1);Vault protein inter-alpha-trypsin, metazoa (1);	0.555420	0.18051	N	0.153274	T	0.01835	0.0058	N	0.14661	0.345	0.36578	D	0.873404	B;B	0.14012	0.009;0.003	B;B	0.12156	0.005;0.007	T	0.49263	-0.8958	10	0.34782	T	0.22	-6.6469	5.4347	0.16474	0.0:0.6841:0.2055:0.1103	.	36;36	E7ET33;Q06033	.;ITIH3_HUMAN	R	36;36;31;36;36	ENSP00000413922:P36R;ENSP00000415769:P36R	ENSP00000273291:P31R	P	+	2	0	ITIH3	52804672	0.117000	0.22190	0.997000	0.53966	0.985000	0.73830	0.058000	0.14301	0.633000	0.30452	0.591000	0.81541	CCG		PASS	0.567	ITIH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352668.2	NM_002217		6	40	6	40	---	---	---	---
EPHA3	2042	broad.mit.edu	37	3	89498436	89498436	+	Missense_Mutation	SNP	C	C	T			TCGA-22-4595-01A-01D-1267-08	TCGA-22-4595-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7fcf5123-2d1b-4666-9d39-a1aaf63cf954	850e8a4d-e0f6-4bd6-80f5-1c20e2b0e4f9	g.chr3:89498436C>T	ENST00000336596.2	+	14	2633	c.2408C>T	c.(2407-2409)tCa>tTa	p.S803L	EPHA3_ENST00000494014.1_Missense_Mutation_p.S803L	NM_005233.5	NP_005224.2	P29320	EPHA3_HUMAN	EPH receptor A3	803	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell adhesion (GO:0007155)|cell migration (GO:0016477)|cellular response to retinoic acid (GO:0071300)|ephrin receptor signaling pathway (GO:0048013)|fasciculation of motor neuron axon (GO:0097156)|fasciculation of sensory neuron axon (GO:0097155)|positive regulation of neuron projection development (GO:0010976)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of epithelial to mesenchymal transition (GO:0010717)|regulation of focal adhesion assembly (GO:0051893)|regulation of microtubule cytoskeleton organization (GO:0070507)|regulation of Rho GTPase activity (GO:0032319)	early endosome (GO:0005769)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|GPI-linked ephrin receptor activity (GO:0005004)	p.S803L(1)		NS(1)|breast(4)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(26)|liver(3)|lung(67)|ovary(7)|pancreas(1)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)	139	all_cancers(8;0.0406)|Melanoma(1;0.00142)|all_epithelial(1;0.0612)	Lung NSC(201;0.0782)		LUSC - Lung squamous cell carcinoma(29;0.00344)|Lung(72;0.00942)		AAGTTCACGTCAGCCAGCGAT	0.443										TSP Lung(6;0.00050)																												uc003dqy.2																			1	Substitution - Missense(1)		lung(1)	lung(17)|ovary(7)|large_intestine(4)|central_nervous_system(2)|stomach(1)|skin(1)|pancreas(1)	33						c.(2407-2409)TCA>TTA		ephrin receptor EphA3 isoform a precursor							237.0	220.0	226.0					3																	89498436		2203	4300	6503	SO:0001583	missense	2042					extracellular region|integral to plasma membrane	ATP binding	g.chr3:89498436C>T	M83941	CCDS2922.1, CCDS46875.1	3p11.2	2013-02-11	2004-10-28		ENSG00000044524	ENSG00000044524	2.7.10.1	"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3387	protein-coding gene	gene with protein product		179611	"""EphA3"""	ETK, ETK1, TYRO4		1737782, 1311845	Standard	NM_005233		Approved	HEK, HEK4	uc003dqy.3	P29320	OTTHUMG00000159040	ENST00000336596.2:c.2408C>T	3.37:g.89498436C>T	ENSP00000337451:p.Ser803Leu	TSP Lung(6;0.00050)				EPHA3_uc010hon.1_RNA	p.S803L	NM_005233	NP_005224	P29320	EPHA3_HUMAN		LUSC - Lung squamous cell carcinoma(29;0.00344)|Lung(72;0.00942)	14	2633	+	all_cancers(8;0.0406)|Melanoma(1;0.00142)|all_epithelial(1;0.0612)	Lung NSC(201;0.0782)	803			Cytoplasmic (Potential).|Protein kinase.		Q9H2V3|Q9H2V4	Missense_Mutation	SNP	ENST00000336596.2	37	c.2408C>T	CCDS2922.1	.	.	.	.	.	.	.	.	.	.	C	29.6	5.020653	0.93462	.	.	ENSG00000044524	ENST00000336596;ENST00000494014	D;D	0.82984	-1.67;-1.67	5.34	5.34	0.76211	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.86602	0.5972	L	0.28776	0.89	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.85254	0.1046	9	.	.	.	.	19.0702	0.93130	0.0:1.0:0.0:0.0	.	803	P29320	EPHA3_HUMAN	L	803	ENSP00000337451:S803L;ENSP00000419190:S803L	.	S	+	2	0	EPHA3	89581126	1.000000	0.71417	0.995000	0.50966	0.839000	0.47603	7.772000	0.85439	2.507000	0.84556	0.655000	0.94253	TCA		PASS	0.443	EPHA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352995.1	NM_005233		82	266	82	266	---	---	---	---
KIAA1524	57650	broad.mit.edu	37	3	108270104	108270104	+	Missense_Mutation	SNP	C	C	A			TCGA-22-4595-01A-01D-1267-08	TCGA-22-4595-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7fcf5123-2d1b-4666-9d39-a1aaf63cf954	850e8a4d-e0f6-4bd6-80f5-1c20e2b0e4f9	g.chr3:108270104C>A	ENST00000295746.8	-	21	2686	c.2610G>T	c.(2608-2610)ttG>ttT	p.L870F	KIAA1524_ENST00000491772.1_Missense_Mutation_p.L711F	NM_020890.2	NP_065941.2	Q8TCG1	CIP2A_HUMAN	KIAA1524	870					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.L870F(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						GAAGTTTCACCAAGGACTCTT	0.428																																						uc003dxb.3																			1	Substitution - Missense(1)		lung(1)	ovary(2)|central_nervous_system(1)	3						c.(2608-2610)TTG>TTT		p90 autoantigen							106.0	97.0	100.0					3																	108270104		2203	4300	6503	SO:0001583	missense	57650					cytoplasm|integral to membrane	protein binding	g.chr3:108270104C>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.2610G>T	3.37:g.108270104C>A	ENSP00000295746:p.Leu870Phe						p.L870F	NM_020890	NP_065941	Q8TCG1	CIP2A_HUMAN			21	2879	-			870			Potential.		A1L4J7|B9EGC3|Q6P4G6|Q8WVP8|Q96PI2|Q9H9C6|Q9P204	Missense_Mutation	SNP	ENST00000295746.8	37	c.2610G>T	CCDS33812.1	.	.	.	.	.	.	.	.	.	.	C	16.88	3.244853	0.59103	.	.	ENSG00000163507	ENST00000491772;ENST00000295746	D;D	0.86562	-2.14;-2.14	5.8	2.92	0.33932	.	0.326738	0.26133	N	0.026156	D	0.83972	0.5370	L	0.60455	1.87	0.21984	N	0.99943	P	0.45212	0.853	P	0.47528	0.549	T	0.74685	-0.3582	10	0.41790	T	0.15	-0.6046	2.7587	0.05300	0.2066:0.4636:0.1905:0.1393	.	870	Q8TCG1	CIP2A_HUMAN	F	711;870	ENSP00000419487:L711F;ENSP00000295746:L870F	ENSP00000295746:L870F	L	-	3	2	KIAA1524	109752794	0.577000	0.26708	0.692000	0.30179	0.998000	0.95712	0.140000	0.16056	0.802000	0.34089	0.591000	0.81541	TTG		PASS	0.428	KIAA1524-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353975.2	NM_020890		14	62	14	62	---	---	---	---
ZNF80	7634	broad.mit.edu	37	3	113955261	113955261	+	Nonsense_Mutation	SNP	C	C	A			TCGA-22-4595-01A-01D-1267-08	TCGA-22-4595-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7fcf5123-2d1b-4666-9d39-a1aaf63cf954	850e8a4d-e0f6-4bd6-80f5-1c20e2b0e4f9	g.chr3:113955261C>A	ENST00000482457.2	-	1	1164	c.661G>T	c.(661-663)Gaa>Taa	p.E221*	RP11-553L6.2_ENST00000493033.1_RNA|RP11-553L6.2_ENST00000481773.1_RNA	NM_007136.3	NP_009067.2	P51504	ZNF80_HUMAN	zinc finger protein 80	221					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.E221*(1)		NS(1)|endometrium(1)|large_intestine(9)|lung(15)|ovary(2)|prostate(2)|urinary_tract(2)	32		Lung NSC(201;0.0233)|all_neural(597;0.0837)				TTCCCACATTCTTTGCACTCG	0.483																																					GBM(23;986 1114 21716)	uc010hqo.2																			1	Substitution - Nonsense(1)		lung(1)		0						c.(661-663)GAA>TAA		zinc finger protein 80							109.0	111.0	111.0					3																	113955261		2203	4300	6503	SO:0001587	stop_gained	7634					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr3:113955261C>A	X65233	CCDS2979.1	3q13.31	2013-01-08	2006-05-12		ENSG00000174255	ENSG00000174255		"""Zinc fingers, C2H2-type"""	13155	protein-coding gene	gene with protein product		194553	"""zinc finger protein 80 (pT17)"""			8478004	Standard	NM_007136		Approved	pT17	uc010hqo.3	P51504	OTTHUMG00000159332	ENST00000482457.2:c.661G>T	3.37:g.113955261C>A	ENSP00000417192:p.Glu221*					ZNF80_uc003ebf.2_RNA	p.E221*	NM_007136	NP_009067	P51504	ZNF80_HUMAN			1	1165	-		Lung NSC(201;0.0233)|all_neural(597;0.0837)	221			C2H2-type 7.		Q6NSW4|Q6NT14	Nonsense_Mutation	SNP	ENST00000482457.2	37	c.661G>T	CCDS2979.1	.	.	.	.	.	.	.	.	.	.	C	36	5.913548	0.97099	.	.	ENSG00000174255	ENST00000482457	.	.	.	3.0	2.11	0.27256	.	.	.	.	.	.	.	.	.	.	.	0.50813	D	0.999896	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	.	9.5148	0.39098	0.2121:0.7879:0.0:0.0	.	.	.	.	X	221	.	ENSP00000309812:E221X	E	-	1	0	ZNF80	115437951	0.000000	0.05858	0.007000	0.13788	0.132000	0.20833	-0.090000	0.11163	0.815000	0.34398	0.561000	0.74099	GAA		PASS	0.483	ZNF80-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354696.2	NM_007136		70	292	70	292	---	---	---	---
IQCB1	9657	broad.mit.edu	37	3	121518141	121518141	+	Missense_Mutation	SNP	C	C	T	rs573000867		TCGA-22-4595-01A-01D-1267-08	TCGA-22-4595-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7fcf5123-2d1b-4666-9d39-a1aaf63cf954	850e8a4d-e0f6-4bd6-80f5-1c20e2b0e4f9	g.chr3:121518141C>T	ENST00000310864.6	-	8	882	c.668G>A	c.(667-669)aGt>aAt	p.S223N	IQCB1_ENST00000349820.6_Intron	NM_001023570.2	NP_001018864.2	Q15051	IQCB1_HUMAN	IQ motif containing B1	223					cilium assembly (GO:0042384)|maintenance of organ identity (GO:0048496)|photoreceptor cell maintenance (GO:0045494)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|intercellular bridge (GO:0045171)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)|photoreceptor connecting cilium (GO:0032391)|photoreceptor outer segment (GO:0001750)	calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)	p.S223N(1)		NS(1)|biliary_tract(1)|breast(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(11)|prostate(1)|skin(1)	30				GBM - Glioblastoma multiforme(114;0.0983)		TATAACTGGACTAGGAGTTGA	0.333																																						uc010hre.1																			1	Substitution - Missense(1)		lung(1)		0						c.(667-669)AGT>AAT		IQ motif containing B1 isoform a							49.0	50.0	49.0					3																	121518141		2203	4297	6500	SO:0001583	missense	9657				cilium assembly|maintenance of organ identity|photoreceptor cell maintenance	centrosome|photoreceptor connecting cilium	calmodulin binding	g.chr3:121518141C>T	D25278	CCDS33836.1, CCDS33837.1	3q21.1	2014-01-28	2004-09-02		ENSG00000173226	ENSG00000173226			28949	protein-coding gene	gene with protein product	"""nephrocystin-5"""	609237	"""IQ calmodulin-binding motif containing 1"""			15723066	Standard	NM_001023571		Approved	KIAA0036, NPHP5, SLSN5	uc010hre.1	Q15051	OTTHUMG00000128677	ENST00000310864.6:c.668G>A	3.37:g.121518141C>T	ENSP00000311505:p.Ser223Asn					IQCB1_uc003eek.2_Intron|IQCB1_uc010hrf.1_RNA	p.S223N	NM_001023570	NP_001018864	Q15051	IQCB1_HUMAN		GBM - Glioblastoma multiforme(114;0.0983)	8	883	-			223					Q3KS08|Q3KS09|Q5DKQ7|Q8NI79|Q9BS08	Missense_Mutation	SNP	ENST00000310864.6	37	c.668G>A	CCDS33837.1	.	.	.	.	.	.	.	.	.	.	C	0.338	-0.952122	0.02285	.	.	ENSG00000173226	ENST00000310864;ENST00000460108;ENST00000498104	T;T;T	0.47869	1.41;2.75;0.83	4.87	4.0	0.46444	.	0.293071	0.38111	N	0.001813	T	0.18383	0.0441	N	0.02916	-0.46	0.80722	D	1	B	0.02656	0.0	B	0.06405	0.002	T	0.16217	-1.0410	10	0.02654	T	1	-5.7011	9.103	0.36681	0.0:0.9004:0.0:0.0996	.	223	Q15051	IQCB1_HUMAN	N	223;39;39	ENSP00000311505:S223N;ENSP00000419168:S39N;ENSP00000417832:S39N	ENSP00000311505:S223N	S	-	2	0	IQCB1	123000831	1.000000	0.71417	1.000000	0.80357	0.541000	0.35023	1.853000	0.39358	1.280000	0.44463	0.585000	0.79938	AGT		PASS	0.333	IQCB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250573.1	NM_014642		10	55	10	55	---	---	---	---
CASR	846	broad.mit.edu	37	3	122003471	122003471	+	Silent	SNP	C	C	T			TCGA-22-4595-01A-01D-1267-08	TCGA-22-4595-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7fcf5123-2d1b-4666-9d39-a1aaf63cf954	850e8a4d-e0f6-4bd6-80f5-1c20e2b0e4f9	g.chr3:122003471C>T	ENST00000490131.1	+	7	3042	c.2670C>T	c.(2668-2670)cgC>cgT	p.R890R	CASR_ENST00000296154.5_Silent_p.R890R|AC068754.1_ENST00000408547.1_RNA|CASR_ENST00000498619.1_Silent_p.R900R	NM_000388.3	NP_000379	P41180	CASR_HUMAN	calcium-sensing receptor	890	Interaction with RNF19A.				anatomical structure morphogenesis (GO:0009653)|calcium ion import (GO:0070509)|cellular calcium ion homeostasis (GO:0006874)|chemosensory behavior (GO:0007635)|detection of calcium ion (GO:0005513)|G-protein coupled receptor signaling pathway (GO:0007186)|metabolic process (GO:0008152)|ossification (GO:0001503)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|phosphatidylinositol phospholipase C activity (GO:0004435)	p.R890R(1)		NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(45)|ovary(4)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	84				GBM - Glioblastoma multiforme(114;0.226)	Cinacalcet(DB01012)	CCACGCTGCGCCGCAGCAACG	0.627																																						uc003eev.3																			1	Substitution - coding silent(1)		lung(1)	ovary(4)|skin(2)|upper_aerodigestive_tract(1)	7						c.(2668-2670)CGC>CGT		calcium-sensing receptor precursor	Cinacalcet(DB01012)						30.0	31.0	31.0					3																	122003471		2203	4299	6502	SO:0001819	synonymous_variant	846				anatomical structure morphogenesis|calcium ion import|cellular calcium ion homeostasis|chemosensory behavior|detection of calcium ion|ossification	integral to plasma membrane	G-protein coupled receptor activity|phosphatidylinositol phospholipase C activity	g.chr3:122003471C>T	U20760	CCDS3010.1, CCDS54632.1	3q21.1	2012-08-29	2008-08-01		ENSG00000036828	ENSG00000036828		"""GPCR / Class C : Calcium-sensing receptors"""	1514	protein-coding gene	gene with protein product	"""severe neonatal hyperparathyroidism"""	601199	"""hypocalciuric hypercalcemia 1"""	HHC, HHC1		7677761	Standard	NM_000388		Approved	FHH, NSHPT, GPRC2A	uc003eew.4	P41180	OTTHUMG00000159491	ENST00000490131.1:c.2670C>T	3.37:g.122003471C>T						CASR_uc003eew.3_Silent_p.R900R	p.R890R	NM_000388	NP_000379	P41180	CASR_HUMAN		GBM - Glioblastoma multiforme(114;0.226)	7	3042	+			890			Cytoplasmic (Potential).|Interaction with RNF19A.		Q13912|Q16108|Q16109|Q16110|Q16379|Q2M1T0|Q4PJ19	Silent	SNP	ENST00000490131.1	37	c.2670C>T	CCDS3010.1																																																																																				PASS	0.627	CASR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355761.1	NM_000388		24	52	24	52	---	---	---	---
CASR	846	broad.mit.edu	37	3	122003473	122003473	+	Missense_Mutation	SNP	G	G	C	rs533567836		TCGA-22-4595-01A-01D-1267-08	TCGA-22-4595-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7fcf5123-2d1b-4666-9d39-a1aaf63cf954	850e8a4d-e0f6-4bd6-80f5-1c20e2b0e4f9	g.chr3:122003473G>C	ENST00000490131.1	+	7	3044	c.2672G>C	c.(2671-2673)cGc>cCc	p.R891P	CASR_ENST00000296154.5_Missense_Mutation_p.R891P|AC068754.1_ENST00000408547.1_RNA|CASR_ENST00000498619.1_Missense_Mutation_p.R901P	NM_000388.3	NP_000379	P41180	CASR_HUMAN	calcium-sensing receptor	891	Interaction with RNF19A.				anatomical structure morphogenesis (GO:0009653)|calcium ion import (GO:0070509)|cellular calcium ion homeostasis (GO:0006874)|chemosensory behavior (GO:0007635)|detection of calcium ion (GO:0005513)|G-protein coupled receptor signaling pathway (GO:0007186)|metabolic process (GO:0008152)|ossification (GO:0001503)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|phosphatidylinositol phospholipase C activity (GO:0004435)	p.R891P(1)|p.R891L(1)		NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(45)|ovary(4)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	84				GBM - Glioblastoma multiforme(114;0.226)	Cinacalcet(DB01012)	ACGCTGCGCCGCAGCAACGTC	0.627																																						uc003eev.3																			2	Substitution - Missense(2)		lung(2)	ovary(4)|skin(2)|upper_aerodigestive_tract(1)	7						c.(2671-2673)CGC>CCC		calcium-sensing receptor precursor	Cinacalcet(DB01012)						30.0	31.0	31.0					3																	122003473		2203	4298	6501	SO:0001583	missense	846				anatomical structure morphogenesis|calcium ion import|cellular calcium ion homeostasis|chemosensory behavior|detection of calcium ion|ossification	integral to plasma membrane	G-protein coupled receptor activity|phosphatidylinositol phospholipase C activity	g.chr3:122003473G>C	U20760	CCDS3010.1, CCDS54632.1	3q21.1	2012-08-29	2008-08-01		ENSG00000036828	ENSG00000036828		"""GPCR / Class C : Calcium-sensing receptors"""	1514	protein-coding gene	gene with protein product	"""severe neonatal hyperparathyroidism"""	601199	"""hypocalciuric hypercalcemia 1"""	HHC, HHC1		7677761	Standard	NM_000388		Approved	FHH, NSHPT, GPRC2A	uc003eew.4	P41180	OTTHUMG00000159491	ENST00000490131.1:c.2672G>C	3.37:g.122003473G>C	ENSP00000418685:p.Arg891Pro					CASR_uc003eew.3_Missense_Mutation_p.R901P	p.R891P	NM_000388	NP_000379	P41180	CASR_HUMAN		GBM - Glioblastoma multiforme(114;0.226)	7	3044	+			891			Cytoplasmic (Potential).|Interaction with RNF19A.		Q13912|Q16108|Q16109|Q16110|Q16379|Q2M1T0|Q4PJ19	Missense_Mutation	SNP	ENST00000490131.1	37	c.2672G>C	CCDS3010.1	.	.	.	.	.	.	.	.	.	.	G	17.55	3.417018	0.62511	.	.	ENSG00000036828	ENST00000490131;ENST00000498619;ENST00000296154	D;D;D	0.89270	-2.49;-2.49;-2.49	5.89	5.89	0.94794	.	0.051500	0.85682	D	0.000000	D	0.90525	0.7031	L	0.27053	0.805	0.54753	D	0.999988	D;D	0.71674	0.998;0.998	P;P	0.61940	0.896;0.831	D	0.91266	0.5040	10	0.66056	D	0.02	.	19.2448	0.93898	0.0:0.0:1.0:0.0	.	901;891	E7ENE0;P41180	.;CASR_HUMAN	P	891;901;891	ENSP00000418685:R891P;ENSP00000420194:R901P;ENSP00000296154:R891P	ENSP00000296154:R891P	R	+	2	0	CASR	123486163	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	6.235000	0.72332	2.793000	0.96121	0.561000	0.74099	CGC		PASS	0.627	CASR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355761.1	NM_000388		26	50	26	50	---	---	---	---
HEG1	57493	broad.mit.edu	37	3	124732636	124732636	+	Missense_Mutation	SNP	G	G	A			TCGA-22-4595-01A-01D-1267-08	TCGA-22-4595-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7fcf5123-2d1b-4666-9d39-a1aaf63cf954	850e8a4d-e0f6-4bd6-80f5-1c20e2b0e4f9	g.chr3:124732636G>A	ENST00000311127.4	-	6	1854	c.1787C>T	c.(1786-1788)tCa>tTa	p.S596L	HEG1_ENST00000477536.1_5'UTR	NM_020733.1	NP_065784.1	Q9ULI3	HEG1_HUMAN	heart development protein with EGF-like domains 1	596	Ser-rich.				cardiac atrium morphogenesis (GO:0003209)|cell-cell junction assembly (GO:0007043)|endothelial cell morphogenesis (GO:0001886)|in utero embryonic development (GO:0001701)|lung development (GO:0030324)|lymph circulation (GO:0003017)|lymph vessel development (GO:0001945)|multicellular organism growth (GO:0035264)|pericardium development (GO:0060039)|post-embryonic development (GO:0009791)|regulation of body fluid levels (GO:0050878)|vasculogenesis (GO:0001570)|venous blood vessel morphogenesis (GO:0048845)|ventricular septum development (GO:0003281)	cell-cell junction (GO:0005911)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)	p.S596L(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(24)|ovary(2)|urinary_tract(4)	47						GGAATACTCTGAATGTGAAGA	0.418																																						uc003ehs.3																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(1786-1788)TCA>TTA		HEG homolog 1 precursor							95.0	93.0	94.0					3																	124732636		1962	4154	6116	SO:0001583	missense	57493					extracellular region|integral to membrane	calcium ion binding	g.chr3:124732636G>A	AK074987	CCDS46898.1	3q21.2	2013-03-08	2013-03-08		ENSG00000173706	ENSG00000173706			29227	protein-coding gene	gene with protein product	"""heart of glass"""	614182	"""HEG homolog 1 (zebrafish)"""			10574462, 19151727, 23007647	Standard	NM_020733		Approved	KIAA1237, HEG	uc003ehs.4	Q9ULI3	OTTHUMG00000159486	ENST00000311127.4:c.1787C>T	3.37:g.124732636G>A	ENSP00000311502:p.Ser596Leu					HEG1_uc011bke.1_Missense_Mutation_p.S696L	p.S596L	NM_020733	NP_065784	Q9ULI3	HEG1_HUMAN			6	1855	-			596			Extracellular (Potential).|Ser-rich.		Q6NX66|Q8NC40|Q9BSV0	Missense_Mutation	SNP	ENST00000311127.4	37	c.1787C>T	CCDS46898.1	.	.	.	.	.	.	.	.	.	.	G	11.62	1.694353	0.30052	.	.	ENSG00000173706	ENST00000311127	D	0.88201	-2.35	5.3	0.148	0.14843	.	0.350601	0.15747	N	0.246619	D	0.82403	0.5029	L	0.51422	1.61	0.09310	N	1	B;B	0.15141	0.012;0.007	B;B	0.14578	0.011;0.005	T	0.64385	-0.6420	10	0.16420	T	0.52	.	9.4596	0.38776	0.4054:0.0:0.5946:0.0	.	596;596	Q9ULI3-2;Q9ULI3	.;HEG1_HUMAN	L	596	ENSP00000311502:S596L	ENSP00000311502:S596L	S	-	2	0	HEG1	126215326	0.000000	0.05858	0.000000	0.03702	0.257000	0.26127	0.213000	0.17521	-0.086000	0.12550	0.650000	0.86243	TCA		PASS	0.418	HEG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355732.2	XM_087386		26	104	26	104	---	---	---	---
COPG1	22820	broad.mit.edu	37	3	128971157	128971157	+	Missense_Mutation	SNP	C	C	T			TCGA-22-4595-01A-01D-1267-08	TCGA-22-4595-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7fcf5123-2d1b-4666-9d39-a1aaf63cf954	850e8a4d-e0f6-4bd6-80f5-1c20e2b0e4f9	g.chr3:128971157C>T	ENST00000314797.6	+	3	228	c.124C>T	c.(124-126)Cgg>Tgg	p.R42W		NM_016128.3	NP_057212.1	Q9Y678	COPG1_HUMAN	coatomer protein complex, subunit gamma 1	42					COPI coating of Golgi vesicle (GO:0048205)|establishment of Golgi localization (GO:0051683)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|organelle transport along microtubule (GO:0072384)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)	COPI vesicle coat (GO:0030126)|cytosol (GO:0005829)|Golgi membrane (GO:0000139)	structural molecule activity (GO:0005198)	p.R42W(1)									CATCAACCCTCGGAAATGTGC	0.453																																						uc003els.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|breast(1)	4						c.(124-126)CGG>TGG		coatomer protein complex, subunit gamma 1							107.0	109.0	108.0					3																	128971157		2203	4300	6503	SO:0001583	missense	22820				COPI coating of Golgi vesicle|intracellular protein transport|retrograde vesicle-mediated transport, Golgi to ER	COPI vesicle coat|cytosol	protein binding|structural molecule activity	g.chr3:128971157C>T	AB047846	CCDS33851.1	3q21.3	2012-02-23	2012-02-23	2012-02-23	ENSG00000181789	ENSG00000181789			2236	protein-coding gene	gene with protein product	"""coat protein gamma-cop"""	615525	"""coatomer protein complex, subunit gamma"""	COPG		11056392	Standard	NM_016128		Approved		uc003els.3	Q9Y678	OTTHUMG00000159451	ENST00000314797.6:c.124C>T	3.37:g.128971157C>T	ENSP00000325002:p.Arg42Trp					COPG_uc010htb.2_5'UTR	p.R42W	NM_016128	NP_057212	Q9Y678	COPG_HUMAN			3	224	+			42					A8K6M8|B3KMF6|Q54AC4	Missense_Mutation	SNP	ENST00000314797.6	37	c.124C>T	CCDS33851.1	.	.	.	.	.	.	.	.	.	.	C	22.3	4.270565	0.80469	.	.	ENSG00000181789	ENST00000314797	T	0.27720	1.65	5.03	5.03	0.67393	Clathrin/coatomer adaptor, adaptin-like, N-terminal (1);Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.64402	D	0.000008	T	0.63129	0.2485	M	0.90542	3.125	0.58432	D	0.999993	D	0.89917	1.0	D	0.79784	0.993	T	0.72178	-0.4369	10	0.87932	D	0	-5.4838	15.8781	0.79182	0.0:1.0:0.0:0.0	.	42	Q9Y678	COPG_HUMAN	W	42	ENSP00000325002:R42W	ENSP00000325002:R42W	R	+	1	2	COPG	130453847	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.502000	0.45398	2.351000	0.79841	0.460000	0.39030	CGG		PASS	0.453	COPG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355456.1	NM_016128		69	193	69	193	---	---	---	---
EPHB1	2047	broad.mit.edu	37	3	134920518	134920518	+	Missense_Mutation	SNP	A	A	T			TCGA-22-4595-01A-01D-1267-08	TCGA-22-4595-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7fcf5123-2d1b-4666-9d39-a1aaf63cf954	850e8a4d-e0f6-4bd6-80f5-1c20e2b0e4f9	g.chr3:134920518A>T	ENST00000398015.3	+	12	2703	c.2333A>T	c.(2332-2334)tAc>tTc	p.Y778F	EPHB1_ENST00000493838.1_Missense_Mutation_p.Y339F	NM_004441.4	NP_004432.1	P54762	EPHB1_HUMAN	EPH receptor B1	778	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				angiogenesis (GO:0001525)|axon guidance (GO:0007411)|camera-type eye morphogenesis (GO:0048593)|cell chemotaxis (GO:0060326)|cell-substrate adhesion (GO:0031589)|central nervous system projection neuron axonogenesis (GO:0021952)|dendritic spine development (GO:0060996)|dendritic spine morphogenesis (GO:0060997)|detection of temperature stimulus involved in sensory perception of pain (GO:0050965)|ephrin receptor signaling pathway (GO:0048013)|establishment of cell polarity (GO:0030010)|neural precursor cell proliferation (GO:0061351)|neurogenesis (GO:0022008)|optic nerve morphogenesis (GO:0021631)|positive regulation of synapse assembly (GO:0051965)|protein autophosphorylation (GO:0046777)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of JNK cascade (GO:0046328)|retinal ganglion cell axon guidance (GO:0031290)	axon (GO:0030424)|early endosome membrane (GO:0031901)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)	ATP binding (GO:0005524)|axon guidance receptor activity (GO:0008046)|transmembrane-ephrin receptor activity (GO:0005005)	p.Y778F(2)		NS(1)|breast(3)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(13)|lung(63)|ovary(8)|pancreas(2)|prostate(8)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	130						GATCCCACCTACACCAGCTCC	0.537																																						uc003eqt.2																			2	Substitution - Missense(2)		lung(2)	lung(11)|ovary(6)|stomach(4)|breast(3)|central_nervous_system(2)|skin(2)|large_intestine(1)|pancreas(1)	30						c.(2332-2334)TAC>TTC		ephrin receptor EphB1 precursor							79.0	79.0	79.0					3																	134920518		2165	4295	6460	SO:0001583	missense	2047					integral to plasma membrane	ATP binding|ephrin receptor activity|protein binding	g.chr3:134920518A>T	L40636	CCDS46921.1	3q21-q23	2013-02-11	2004-10-28			ENSG00000154928		"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3392	protein-coding gene	gene with protein product		600600	"""EphB1"""	EPHT2		8666391	Standard	NM_004441		Approved	Hek6	uc003eqt.3	P54762		ENST00000398015.3:c.2333A>T	3.37:g.134920518A>T	ENSP00000381097:p.Tyr778Phe					EPHB1_uc003equ.2_Missense_Mutation_p.Y339F	p.Y778F	NM_004441	NP_004432	P54762	EPHB1_HUMAN			12	2553	+			778			Cytoplasmic (Potential).|Protein kinase.		A8K593|B3KTB2|B5A969|O43569|O95142|O95143|Q0VG87	Missense_Mutation	SNP	ENST00000398015.3	37	c.2333A>T	CCDS46921.1	.	.	.	.	.	.	.	.	.	.	A	27.6	4.848608	0.91277	.	.	ENSG00000154928	ENST00000398015;ENST00000493838	D;D	0.84589	-1.87;-1.87	5.44	5.44	0.79542	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.91202	0.7228	M	0.67397	2.05	0.80722	D	1	D	0.63046	0.992	D	0.74674	0.984	D	0.91873	0.5509	10	0.62326	D	0.03	.	15.7873	0.78315	1.0:0.0:0.0:0.0	.	778	P54762	EPHB1_HUMAN	F	778;339	ENSP00000381097:Y778F;ENSP00000419574:Y339F	ENSP00000381097:Y778F	Y	+	2	0	EPHB1	136403208	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	9.287000	0.95975	2.186000	0.69663	0.460000	0.39030	TAC		PASS	0.537	EPHB1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357671.1	NM_004441		26	99	26	99	---	---	---	---
LRRIQ4	344657	broad.mit.edu	37	3	169546579	169546579	+	Silent	SNP	G	G	T			TCGA-22-4595-01A-01D-1267-08	TCGA-22-4595-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7fcf5123-2d1b-4666-9d39-a1aaf63cf954	850e8a4d-e0f6-4bd6-80f5-1c20e2b0e4f9	g.chr3:169546579G>T	ENST00000340806.6	+	2	1053	c.1053G>T	c.(1051-1053)ctG>ctT	p.L351L		NM_001080460.1	NP_001073929.1	A6NIV6	LRIQ4_HUMAN	leucine-rich repeats and IQ motif containing 4	351								p.L351L(2)		breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	30						TTTCAAAACTGAAGATACTTG	0.373																																						uc003fgb.2																			2	Substitution - coding silent(2)		lung(1)|breast(1)		0						c.(1051-1053)CTG>CTT		leucine-rich repeats and IQ motif containing 4							92.0	91.0	91.0					3																	169546579		1826	4089	5915	SO:0001819	synonymous_variant	344657							g.chr3:169546579G>T		CCDS46951.1	3q26.2	2008-08-08	2008-06-12	2008-06-12	ENSG00000188306	ENSG00000188306			34298	protein-coding gene	gene with protein product	"""leucine rich repeat containing 64"""						Standard	NM_001080460		Approved	LRRC64	uc003fgb.3	A6NIV6	OTTHUMG00000164420	ENST00000340806.6:c.1053G>T	3.37:g.169546579G>T							p.L351L	NM_001080460	NP_001073929	A6NIV6	LRIQ4_HUMAN			2	1053	+			351			LRR 15.			Silent	SNP	ENST00000340806.6	37	c.1053G>T	CCDS46951.1																																																																																				PASS	0.373	LRRIQ4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378698.1	NM_001080460		118	143	118	143	---	---	---	---
NAALADL2	254827	broad.mit.edu	37	3	175042061	175042061	+	Missense_Mutation	SNP	T	T	G			TCGA-22-4595-01A-01D-1267-08	TCGA-22-4595-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7fcf5123-2d1b-4666-9d39-a1aaf63cf954	850e8a4d-e0f6-4bd6-80f5-1c20e2b0e4f9	g.chr3:175042061T>G	ENST00000454872.1	+	5	1165	c.1037T>G	c.(1036-1038)aTg>aGg	p.M346R	NAALADL2_ENST00000473253.1_3'UTR	NM_207015.2	NP_996898.2	Q58DX5	NADL2_HUMAN	N-acetylated alpha-linked acidic dipeptidase-like 2	346						integral component of membrane (GO:0016021)		p.M346R(1)		central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(20)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)	49	Ovarian(172;0.0102)	all_cancers(1;0.0272)|all_epithelial(1;0.0553)	OV - Ovarian serous cystadenocarcinoma(80;9.26e-28)	Colorectal(1;1.66e-10)|COAD - Colon adenocarcinoma(1;2.1e-07)|STAD - Stomach adenocarcinoma(1;0.00261)|READ - Rectum adenocarcinoma(3;0.0284)		GATACCTTCATGGTGTCACTG	0.423																																						uc003fit.2																			1	Substitution - Missense(1)		lung(1)	pancreas(1)	1						c.(1036-1038)ATG>AGG		N-acetylated alpha-linked acidic dipeptidase 2							185.0	181.0	182.0					3																	175042061		1904	4114	6018	SO:0001583	missense	254827				proteolysis	integral to membrane	peptidase activity	g.chr3:175042061T>G		CCDS46960.1	3q26.3	2011-08-16			ENSG00000177694	ENSG00000177694			23219	protein-coding gene	gene with protein product	"""glutamate carboxypeptidase II-type non-peptidase homologue"""	608806				15168106	Standard	NM_207015		Approved		uc003fir.3	Q58DX5	OTTHUMG00000157120	ENST00000454872.1:c.1037T>G	3.37:g.175042061T>G	ENSP00000404705:p.Met346Arg					NAALADL2_uc003fiu.1_Missense_Mutation_p.M339R|NAALADL2_uc010hwy.1_Missense_Mutation_p.M168R|NAALADL2_uc010hwz.1_Intron	p.M346R	NM_207015	NP_996898	Q58DX5	NADL2_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;9.26e-28)	Colorectal(1;1.66e-10)|COAD - Colon adenocarcinoma(1;2.1e-07)|STAD - Stomach adenocarcinoma(1;0.00261)|READ - Rectum adenocarcinoma(3;0.0284)	5	1124	+	Ovarian(172;0.0102)	all_cancers(1;0.0272)|all_epithelial(1;0.0553)	346			Extracellular (Potential).		Q658X9|Q6H9J8|Q6H9J9|Q6PG38	Missense_Mutation	SNP	ENST00000454872.1	37	c.1037T>G	CCDS46960.1	.	.	.	.	.	.	.	.	.	.	T	14.34	2.505797	0.44558	.	.	ENSG00000177694	ENST00000454872	T	0.41400	1.0	5.58	5.58	0.84498	.	0.172931	0.41396	D	0.000892	T	0.32496	0.0831	L	0.38838	1.175	0.26376	N	0.976816	P	0.38642	0.641	B	0.35413	0.202	T	0.20739	-1.0266	10	0.23302	T	0.38	-11.751	14.3279	0.66532	0.0:0.0:0.0:1.0	.	346	Q58DX5	NADL2_HUMAN	R	346	ENSP00000404705:M346R	ENSP00000404705:M346R	M	+	2	0	NAALADL2	176524755	1.000000	0.71417	0.997000	0.53966	0.979000	0.70002	3.958000	0.56737	2.122000	0.65172	0.460000	0.39030	ATG		PASS	0.423	NAALADL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347390.2	NM_207015		104	565	104	565	---	---	---	---
CCDC39	339829	broad.mit.edu	37	3	180366086	180366086	+	Missense_Mutation	SNP	T	T	C	rs376852194		TCGA-22-4595-01A-01D-1267-08	TCGA-22-4595-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7fcf5123-2d1b-4666-9d39-a1aaf63cf954	850e8a4d-e0f6-4bd6-80f5-1c20e2b0e4f9	g.chr3:180366086T>C	ENST00000442201.2	-	10	1348	c.1229A>G	c.(1228-1230)cAg>cGg	p.Q410R	CCDC39_ENST00000273654.4_Missense_Mutation_p.Q494R	NM_181426.1	NP_852091.1	Q9UFE4	CCD39_HUMAN	coiled-coil domain containing 39	410					axonemal dynein complex assembly (GO:0070286)|cilium-dependent cell motility (GO:0060285)|determination of digestive tract left/right asymmetry (GO:0071907)|determination of liver left/right asymmetry (GO:0071910)|determination of pancreatic left/right asymmetry (GO:0035469)|epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)|heart looping (GO:0001947)|lung development (GO:0030324)	axoneme (GO:0005930)|cytoskeleton (GO:0005856)		p.Q410R(1)|p.Q494R(1)		NS(1)|breast(1)|endometrium(4)|large_intestine(9)|lung(22)|ovary(6)|prostate(2)	45	all_cancers(143;9.31e-15)|Ovarian(172;0.0212)		OV - Ovarian serous cystadenocarcinoma(80;5.62e-23)|GBM - Glioblastoma multiforme(14;0.000558)			TGTCTCAGTCTGTAACTCCTG	0.333													T|||	1	0.000199681	0.0	0.0014	5008	,	,		17648	0.0		0.0	False		,,,				2504	0.0					uc010hxe.2																			2	Substitution - Missense(2)		lung(2)	ovary(4)	4						c.(1228-1230)CAG>CGG		coiled-coil domain containing 39		T	ARG/GLN	0,3666		0,0,1833	145.0	136.0	139.0		1229	5.4	1.0	3		139	1,8155		0,1,4077	no	missense	CCDC39	NM_181426.1	43	0,1,5910	CC,CT,TT		0.0123,0.0,0.0085	possibly-damaging	410/942	180366086	1,11821	1833	4078	5911	SO:0001583	missense	339829				axonemal dynein complex assembly|ciliary cell motility|cilium movement involved in determination of left/right asymmetry|flagellar cell motility	cilium axoneme|cytoplasm|cytoskeleton		g.chr3:180366086T>C	BC047103	CCDS46964.1	3q26.33	2012-07-27			ENSG00000145075	ENSG00000145075			25244	protein-coding gene	gene with protein product		613798				21131972	Standard	NM_181426		Approved	DKFZp434A128, CILD14, FAP59	uc010hxe.3	Q9UFE4	OTTHUMG00000157857	ENST00000442201.2:c.1229A>G	3.37:g.180366086T>C	ENSP00000405708:p.Gln410Arg					CCDC39_uc003fkn.2_RNA	p.Q410R	NM_181426	NP_852091	Q9UFE4	CCD39_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;5.62e-23)|GBM - Glioblastoma multiforme(14;0.000558)		10	1344	-	all_cancers(143;9.31e-15)|Ovarian(172;0.0212)		410			Potential.		B4E2H1	Missense_Mutation	SNP	ENST00000442201.2	37	c.1229A>G	CCDS46964.1	.	.	.	.	.	.	.	.	.	.	T	15.83	2.948257	0.53186	0.0	1.23E-4	ENSG00000145075	ENST00000273654;ENST00000442201	T;T	0.78126	-1.15;-1.15	5.37	5.37	0.77165	.	0.297648	0.37669	N	0.001999	T	0.71324	0.3326	M	0.63428	1.95	0.32849	D	0.506356	P	0.43826	0.818	B	0.36845	0.234	T	0.75811	-0.3186	10	0.12103	T	0.63	-10.7098	15.1121	0.72365	0.0:0.0:0.0:1.0	.	410	Q9UFE4	CCD39_HUMAN	R	494;410	ENSP00000273654:Q494R;ENSP00000405708:Q410R	ENSP00000273654:Q494R	Q	-	2	0	CCDC39	181848780	1.000000	0.71417	0.994000	0.49952	0.903000	0.53119	5.808000	0.69165	2.051000	0.60960	0.456000	0.33151	CAG		PASS	0.333	CCDC39-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349783.3	XM_291028		45	250	45	250	---	---	---	---
KLHL24	54800	broad.mit.edu	37	3	183368731	183368731	+	Missense_Mutation	SNP	A	A	T			TCGA-22-4595-01A-01D-1267-08	TCGA-22-4595-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7fcf5123-2d1b-4666-9d39-a1aaf63cf954	850e8a4d-e0f6-4bd6-80f5-1c20e2b0e4f9	g.chr3:183368731A>T	ENST00000454652.2	+	4	973	c.587A>T	c.(586-588)gAg>gTg	p.E196V	KLHL24_ENST00000242810.6_Missense_Mutation_p.E196V|KLHL24_ENST00000476808.1_Missense_Mutation_p.E196V	NM_017644.3	NP_060114.2	Q6TFL4	KLH24_HUMAN	kelch-like family member 24	196	BACK.					cell projection (GO:0042995)|cytoplasm (GO:0005737)		p.E196V(1)		NS(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(10)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27	all_cancers(143;2.88e-10)|Ovarian(172;0.0303)		all cancers(12;1.43e-42)|Epithelial(37;1.73e-36)|OV - Ovarian serous cystadenocarcinoma(80;8.75e-22)			CAGACTTTTGAGGATGTATCC	0.363																																						uc003flv.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(586-588)GAG>GTG		DRE1 protein							105.0	109.0	108.0					3																	183368731		2203	4300	6503	SO:0001583	missense	54800					axon|cytoplasm|perikaryon		g.chr3:183368731A>T		CCDS3246.1	3q27.1	2013-02-22	2013-02-22		ENSG00000114796	ENSG00000114796		"""Kelch-like"", ""BTB/POZ domain containing"""	25947	protein-coding gene	gene with protein product		611295	"""kelch-like 24 (Drosophila)"""				Standard	XM_005247552		Approved	DRE1, FLJ20059	uc003flv.3	Q6TFL4	OTTHUMG00000156911	ENST00000454652.2:c.587A>T	3.37:g.183368731A>T	ENSP00000395012:p.Glu196Val					KLHL24_uc003flw.2_Missense_Mutation_p.E196V|KLHL24_uc003flx.2_Missense_Mutation_p.E196V	p.E196V	NM_017644	NP_060114	Q6TFL4	KLH24_HUMAN	all cancers(12;1.43e-42)|Epithelial(37;1.73e-36)|OV - Ovarian serous cystadenocarcinoma(80;8.75e-22)		3	882	+	all_cancers(143;2.88e-10)|Ovarian(172;0.0303)		196			BACK.		A5PLN8|Q9H620|Q9NXT9	Missense_Mutation	SNP	ENST00000454652.2	37	c.587A>T	CCDS3246.1	.	.	.	.	.	.	.	.	.	.	A	3.819	-0.038136	0.07497	.	.	ENSG00000114796	ENST00000242810;ENST00000454652;ENST00000476808	T;T;T	0.69306	-0.39;-0.39;-0.39	5.13	5.13	0.70059	BTB/Kelch-associated (2);	0.105732	0.64402	D	0.000006	T	0.45895	0.1365	N	0.11023	0.085	0.44214	D	0.997047	B;B	0.14012	0.009;0.0	B;B	0.14023	0.01;0.002	T	0.40794	-0.9544	10	0.10636	T	0.68	.	14.9452	0.71026	1.0:0.0:0.0:0.0	.	196;196	Q6TFL4-2;Q6TFL4	.;KLH24_HUMAN	V	196	ENSP00000242810:E196V;ENSP00000395012:E196V;ENSP00000419010:E196V	ENSP00000242810:E196V	E	+	2	0	KLHL24	184851425	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	2.601000	0.46249	1.935000	0.56089	0.377000	0.23210	GAG		PASS	0.363	KLHL24-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346586.2	NM_017644		203	233	203	233	---	---	---	---
PARL	55486	broad.mit.edu	37	3	183551362	183551362	+	Missense_Mutation	SNP	T	T	G			TCGA-22-4595-01A-01D-1267-08	TCGA-22-4595-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7fcf5123-2d1b-4666-9d39-a1aaf63cf954	850e8a4d-e0f6-4bd6-80f5-1c20e2b0e4f9	g.chr3:183551362T>G	ENST00000317096.4	-	9	1006	c.946A>C	c.(946-948)Atc>Ctc	p.I316L	PARL_ENST00000311101.5_Missense_Mutation_p.I266L|PARL_ENST00000435888.1_Missense_Mutation_p.I232L	NM_018622.5	NP_061092.3	Q9H300	PARL_HUMAN	presenilin associated, rhomboid-like	316					membrane protein proteolysis (GO:0033619)|negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)|negative regulation of release of cytochrome c from mitochondria (GO:0090201)|proteolysis (GO:0006508)|regulation of protein targeting to mitochondrion (GO:1903214)|regulation of reactive oxygen species metabolic process (GO:2000377)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	endopeptidase activity (GO:0004175)|serine-type endopeptidase activity (GO:0004252)	p.I316L(1)		endometrium(2)|large_intestine(3)|liver(1)|lung(6)|prostate(1)|skin(1)|stomach(2)|urinary_tract(1)	17	all_cancers(143;6.55e-10)|Ovarian(172;0.0303)		all cancers(12;2.21e-41)|Epithelial(37;1.34e-36)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)			TCCATGGCGATAATGGCTTTC	0.453																																						uc003fmd.2																			1	Substitution - Missense(1)		lung(1)		0						c.(946-948)ATC>CTC		presenilin associated, rhomboid-like isoform 1							96.0	83.0	87.0					3																	183551362		2203	4300	6503	SO:0001583	missense	55486				proteolysis	integral to membrane|mitochondrial inner membrane|nucleus	serine-type endopeptidase activity	g.chr3:183551362T>G	AF116692	CCDS3248.1, CCDS33897.1	3q27.3	2008-02-05		2006-02-28	ENSG00000175193	ENSG00000175193			18253	protein-coding gene	gene with protein product	"""rhomboid 7 homolog 1 (Drosophila)"""	607858		PSARL			Standard	XM_005247587		Approved	PRO2207, PSARL1, RHBDS1	uc003fmd.3	Q9H300	OTTHUMG00000156890	ENST00000317096.4:c.946A>C	3.37:g.183551362T>G	ENSP00000325421:p.Ile316Leu					PARL_uc003fme.2_Missense_Mutation_p.I266L	p.I316L	NM_018622	NP_061092	Q9H300	PARL_HUMAN	all cancers(12;2.21e-41)|Epithelial(37;1.34e-36)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)		9	1005	-	all_cancers(143;6.55e-10)|Ovarian(172;0.0303)		316			Helical; (Potential).		Q96CQ4|Q9BTJ6|Q9P1E3	Missense_Mutation	SNP	ENST00000317096.4	37	c.946A>C	CCDS3248.1	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	T|T|T	13.51|13.51|13.51	2.258787|2.258787|2.258787	0.39896|0.39896|0.39896	.|.|.	.|.|.	ENSG00000175193|ENSG00000175193|ENSG00000175193	ENST00000317096;ENST00000311101;ENST00000435888|ENST00000418450|ENST00000417784	T;T;T|.|.	0.14391|.|.	2.51;2.51;2.98|.|.	5.63|5.63|5.63	4.44|4.44|4.44	0.53790|0.53790|0.53790	Peptidase S54, rhomboid domain (1);|.|.	0.259034|.|.	0.39341|.|.	N|.|.	0.001394|.|.	T|T|T	0.36220|0.36220|0.36220	0.0959|0.0959|0.0959	N|N|N	0.11673|0.11673|0.11673	0.155|0.155|0.155	0.46609|0.46609|0.46609	D|D|D	0.999128|0.999128|0.999128	B;B|.|.	0.29162|.|.	0.235;0.022|.|.	B;B|.|.	0.29353|.|.	0.069;0.101|.|.	T|T|T	0.13575|0.13575|0.13575	-1.0504|-1.0504|-1.0504	10|5|5	0.37606|.|.	T|.|.	0.19|.|.	-28.6575|-28.6575|-28.6575	10.8586|10.8586|10.8586	0.46812|0.46812|0.46812	0.1406:0.0:0.0:0.8594|0.1406:0.0:0.0:0.8594|0.1406:0.0:0.0:0.8594	.|.|.	266;316|.|.	Q9H300-2;Q9H300|.|.	.;PARL_HUMAN|.|.	L|F|S	316;266;232|48|107	ENSP00000325421:I316L;ENSP00000310676:I266L;ENSP00000402137:I232L|.|.	ENSP00000310676:I266L|.|.	I|L|Y	-|-|-	1|3|2	0|2|0	PARL|PARL|PARL	185034056|185034056|185034056	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	1.000000|1.000000|1.000000	0.80357|0.80357|0.80357	0.996000|0.996000|0.996000	0.88848|0.88848|0.88848	4.681000|4.681000|4.681000	0.61663|0.61663|0.61663	1.030000|1.030000|1.030000	0.39839|0.39839|0.39839	0.533000|0.533000|0.533000	0.62120|0.62120|0.62120	ATC|TTA|TAT		PASS	0.453	PARL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346465.1	NM_018622		26	112	26	112	---	---	---	---
ABCC5	10057	broad.mit.edu	37	3	183645225	183645225	+	Missense_Mutation	SNP	G	G	T			TCGA-22-4595-01A-01D-1267-08	TCGA-22-4595-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7fcf5123-2d1b-4666-9d39-a1aaf63cf954	850e8a4d-e0f6-4bd6-80f5-1c20e2b0e4f9	g.chr3:183645225G>T	ENST00000334444.6	-	28	4180	c.3940C>A	c.(3940-3942)Cag>Aag	p.Q1314K	ABCC5_ENST00000265586.6_Missense_Mutation_p.Q1271K	NM_005688.2	NP_005679.2	O15440	MRP5_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 5	1314	ABC transporter 2. {ECO:0000255|PROSITE- ProRule:PRU00434}.				carbohydrate metabolic process (GO:0005975)|glycosaminoglycan metabolic process (GO:0030203)|hyaluronan biosynthetic process (GO:0030213)|hyaluronan metabolic process (GO:0030212)|organic anion transport (GO:0015711)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|organic anion transmembrane transporter activity (GO:0008514)	p.Q1314K(1)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	62	all_cancers(143;1.85e-10)|Ovarian(172;0.0303)		Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)		Adefovir Dipivoxil(DB00718)|Alprostadil(DB00770)|Atorvastatin(DB01076)|Cisplatin(DB00515)|Dinoprostone(DB00917)|Dipyridamole(DB00975)|Fluorouracil(DB00544)|Glutathione(DB00143)|Mercaptopurine(DB01033)|Probenecid(DB01032)|Rifampicin(DB01045)|Sildenafil(DB00203)|Sulfinpyrazone(DB01138)|Zidovudine(DB00495)	AGAGGTAGCTGAGCAATCTAG	0.458																																						uc003fmg.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|large_intestine(1)|central_nervous_system(1)	4						c.(3940-3942)CAG>AAG		ATP-binding cassette, sub-family C, member 5							54.0	50.0	52.0					3																	183645225		1876	4113	5989	SO:0001583	missense	10057					integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances|organic anion transmembrane transporter activity	g.chr3:183645225G>T	AF104942	CCDS33898.1, CCDS43176.1	3q27	2012-03-14			ENSG00000114770	ENSG00000114770		"""ATP binding cassette transporters / subfamily C"""	56	protein-coding gene	gene with protein product		605251				8894702, 9827529	Standard	XM_005247058		Approved	MRP5, SMRP, EST277145, MOAT-C	uc003fmg.3	O15440	OTTHUMG00000156871	ENST00000334444.6:c.3940C>A	3.37:g.183645225G>T	ENSP00000333926:p.Gln1314Lys					ABCC5_uc011bqt.1_Missense_Mutation_p.Q842K|ABCC5_uc010hxl.2_Missense_Mutation_p.Q1271K	p.Q1314K	NM_005688	NP_005679	O15440	MRP5_HUMAN	Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)		28	4105	-	all_cancers(143;1.85e-10)|Ovarian(172;0.0303)		1314			ABC transporter 2.		B9EIQ2|O14517|Q29ZA9|Q29ZB1|Q86UX3|Q86W30|Q9UN85|Q9UNP5|Q9UQC3	Missense_Mutation	SNP	ENST00000334444.6	37	c.3940C>A	CCDS43176.1	.	.	.	.	.	.	.	.	.	.	G	9.688	1.151064	0.21371	.	.	ENSG00000114770	ENST00000334444;ENST00000265586	D;D	0.90069	-2.61;-2.61	5.2	5.2	0.72013	ATPase, AAA+ type, core (1);ABC transporter-like (2);	0.000000	0.85682	D	0.000000	T	0.73946	0.3652	N	0.01624	-0.795	0.80722	D	1	B;B	0.17667	0.008;0.023	B;B	0.29524	0.023;0.103	T	0.71258	-0.4646	10	0.02654	T	1	-19.9101	18.9274	0.92550	0.0:0.0:1.0:0.0	.	1271;1314	Q86UX3;O15440	.;MRP5_HUMAN	K	1314;1271	ENSP00000333926:Q1314K;ENSP00000265586:Q1271K	ENSP00000265586:Q1271K	Q	-	1	0	ABCC5	185127919	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.272000	0.95707	2.709000	0.92574	0.563000	0.77884	CAG		PASS	0.458	ABCC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346350.1	NM_005688		8	82	8	82	---	---	---	---
HTR3D	200909	broad.mit.edu	37	3	183756643	183756643	+	Missense_Mutation	SNP	G	G	T			TCGA-22-4595-01A-01D-1267-08	TCGA-22-4595-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7fcf5123-2d1b-4666-9d39-a1aaf63cf954	850e8a4d-e0f6-4bd6-80f5-1c20e2b0e4f9	g.chr3:183756643G>T	ENST00000382489.3	+	8	1245	c.1245G>T	c.(1243-1245)aaG>aaT	p.K415N	HTR3D_ENST00000334128.2_Missense_Mutation_p.K240N|HTR3D_ENST00000453435.1_Missense_Mutation_p.K194N|HTR3D_ENST00000428798.2_Missense_Mutation_p.K365N	NM_001163646.1	NP_001157118.1	Q70Z44	5HT3D_HUMAN	5-hydroxytryptamine (serotonin) receptor 3D, ionotropic	415					ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	extracellular ligand-gated ion channel activity (GO:0005230)	p.K415N(1)|p.K240N(1)		large_intestine(3)|lung(3)|prostate(1)|skin(1)|stomach(2)	10	all_cancers(143;2.33e-10)|Ovarian(172;0.0303)		Epithelial(37;6.23e-36)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)		Ergoloid mesylate(DB01049)	AGGCCCAGAAGCAGCACTCGG	0.637																																						uc011bqv.1																			2	Substitution - Missense(2)		lung(2)		0						c.(1243-1245)AAG>AAT		5-hydroxytryptamine receptor 3 subunit D isoform							111.0	103.0	106.0					3																	183756643		2203	4300	6503	SO:0001583	missense	200909					integral to membrane|plasma membrane	extracellular ligand-gated ion channel activity|receptor activity	g.chr3:183756643G>T	AY159812	CCDS3249.1, CCDS46966.1, CCDS54685.1	3q27	2012-05-22	2012-02-03		ENSG00000186090	ENSG00000186090		"""5-HT (serotonin) receptors"", ""Ligand-gated ion channels / 5-HT (serotonin) receptors, ionotropic"""	24004	protein-coding gene	gene with protein product		610122	"""5-hydroxytryptamine (serotonin) receptor 3 family member D"""			12801637	Standard	NM_001145143		Approved		uc011bqv.2	Q70Z44	OTTHUMG00000156858	ENST00000382489.3:c.1245G>T	3.37:g.183756643G>T	ENSP00000371929:p.Lys415Asn					HTR3D_uc003fmj.2_Missense_Mutation_p.K240N|HTR3D_uc011bqu.1_Missense_Mutation_p.K365N|HTR3D_uc010hxp.2_Missense_Mutation_p.K194N	p.K415N	NM_001163646	NP_001157118	Q70Z44	5HT3D_HUMAN	Epithelial(37;6.23e-36)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)		8	1245	+	all_cancers(143;2.33e-10)|Ovarian(172;0.0303)		415			Cytoplasmic (Potential).		C9J2I6|J3QT78|Q495N5|Q495N6|Q7Z6B3	Missense_Mutation	SNP	ENST00000382489.3	37	c.1245G>T	CCDS54685.1	.	.	.	.	.	.	.	.	.	.	G	15.89	2.967378	0.53507	.	.	ENSG00000186090	ENST00000334128;ENST00000428798;ENST00000382489;ENST00000453435	D;D;D;D	0.82433	-1.61;-1.61;-1.61;-1.61	3.68	3.68	0.42216	Neurotransmitter-gated ion-channel transmembrane domain (1);	0.593051	0.15122	N	0.279322	D	0.84800	0.5552	M	0.68317	2.08	0.19945	N	0.999942	B;P;P;P	0.48764	0.425;0.911;0.915;0.82	B;P;P;P	0.53185	0.324;0.571;0.72;0.466	T	0.74216	-0.3737	10	0.18276	T	0.48	-7.8696	11.1074	0.48212	0.0:0.0:1.0:0.0	.	415;240;194;240	Q70Z44;Q70Z44-2;Q70Z44-3;F6WC43	5HT3D_HUMAN;.;.;.	N	240;365;415;194	ENSP00000334315:K240N;ENSP00000405409:K365N;ENSP00000371929:K415N;ENSP00000389268:K194N	ENSP00000334315:K240N	K	+	3	2	HTR3D	185239337	0.992000	0.36948	0.788000	0.31933	0.142000	0.21351	4.166000	0.58203	2.048000	0.60808	0.563000	0.77884	AAG		PASS	0.637	HTR3D-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000346289.1	NM_182537		50	154	50	154	---	---	---	---
VPS8	23355	broad.mit.edu	37	3	184580696	184580696	+	Silent	SNP	A	A	T			TCGA-22-4595-01A-01D-1267-08	TCGA-22-4595-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7fcf5123-2d1b-4666-9d39-a1aaf63cf954	850e8a4d-e0f6-4bd6-80f5-1c20e2b0e4f9	g.chr3:184580696A>T	ENST00000437079.3	+	16	1407	c.1236A>T	c.(1234-1236)tcA>tcT	p.S412S	VPS8_ENST00000446204.2_Silent_p.S410S|VPS8_ENST00000436792.2_Silent_p.S410S|VPS8_ENST00000287546.4_Silent_p.S412S	NM_001009921.2	NP_001009921.1	Q8N3P4	VPS8_HUMAN	vacuolar protein sorting 8 homolog (S. cerevisiae)	412							zinc ion binding (GO:0008270)	p.S412S(1)		NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(11)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	54	all_cancers(143;2.51e-11)|Ovarian(172;0.0339)|Breast(254;0.247)		Epithelial(37;1.02e-33)|OV - Ovarian serous cystadenocarcinoma(80;4.81e-22)			GGATAAATTCACGCACAGTTG	0.438																																						uc003fpb.1																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(1228-1230)TCA>TCT		vacuolar protein sorting 8 homolog isoform b							102.0	103.0	103.0					3																	184580696		2032	4203	6235	SO:0001819	synonymous_variant	23355						zinc ion binding	g.chr3:184580696A>T	AK056661	CCDS46972.1	3q27.2	2006-07-07	2006-07-07	2006-07-07	ENSG00000156931	ENSG00000156931			29122	protein-coding gene	gene with protein product			"""KIAA0804"""	KIAA0804		9872452	Standard	NM_001009921		Approved	FLJ32099	uc003fpb.1	Q8N3P4	OTTHUMG00000156707	ENST00000437079.3:c.1236A>T	3.37:g.184580696A>T						VPS8_uc010hyd.1_Silent_p.S410S	p.S410S	NM_015303	NP_056118	Q8N3P4	VPS8_HUMAN	Epithelial(37;1.02e-33)|OV - Ovarian serous cystadenocarcinoma(80;4.81e-22)		15	1401	+	all_cancers(143;2.51e-11)|Ovarian(172;0.0339)|Breast(254;0.247)		412					A8K8Q8|B9EIQ1|C9JB61|O94896|Q63HP2|Q9BVP9|Q9H9B0	Silent	SNP	ENST00000437079.3	37	c.1230A>T	CCDS46971.1																																																																																				PASS	0.438	VPS8-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_015303		41	248	41	248	---	---	---	---
RFC4	5984	broad.mit.edu	37	3	186508180	186508180	+	Missense_Mutation	SNP	T	T	C			TCGA-22-4595-01A-01D-1267-08	TCGA-22-4595-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7fcf5123-2d1b-4666-9d39-a1aaf63cf954	850e8a4d-e0f6-4bd6-80f5-1c20e2b0e4f9	g.chr3:186508180T>C	ENST00000392481.2	-	9	1098	c.817A>G	c.(817-819)Aaa>Gaa	p.K273E	SNORA63_ENST00000363450.1_RNA|SNORA4_ENST00000584302.1_RNA|RFC4_ENST00000433496.1_Intron|RFC4_ENST00000296273.2_Missense_Mutation_p.K273E	NM_181573.2	NP_853551.1	P35249	RFC4_HUMAN	replication factor C (activator 1) 4, 37kDa	273					DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA strand elongation involved in DNA replication (GO:0006271)|mitotic cell cycle (GO:0000278)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA gap filling (GO:0006297)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|transcription-coupled nucleotide-excision repair (GO:0006283)	DNA replication factor C complex (GO:0005663)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|DNA binding (GO:0003677)	p.K273E(1)		breast(3)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	26	all_cancers(143;2.92e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;7.41e-21)	GBM - Glioblastoma multiforme(93;0.0739)		CCATCAATTTTCTCAGCTGGT	0.443																																						uc003fqz.2																			1	Substitution - Missense(1)		lung(1)	breast(2)|upper_aerodigestive_tract(1)|ovary(1)|large_intestine(1)	5						c.(817-819)AAA>GAA		replication factor C 4							109.0	110.0	110.0					3																	186508180		2203	4300	6503	SO:0001583	missense	5984				cell cycle checkpoint|DNA strand elongation involved in DNA replication|nucleotide-excision repair, DNA gap filling|phosphatidylinositol-mediated signaling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	DNA replication factor C complex|nucleoplasm	ATP binding|DNA clamp loader activity|protein binding	g.chr3:186508180T>C		CCDS3283.1	3q27	2010-04-21	2002-08-29		ENSG00000163918	ENSG00000163918		"""ATPases / AAA-type"""	9972	protein-coding gene	gene with protein product	"""A1 37 kDa subunit"", ""activator 1 37 kDa subunit"", ""RFC 37 kDa subunit"""	102577	"""replication factor C (activator 1) 4 (37kD)"""			7774928	Standard	NM_181573		Approved	A1, RFC37	uc003fqz.3	P35249	OTTHUMG00000156515	ENST00000392481.2:c.817A>G	3.37:g.186508180T>C	ENSP00000376272:p.Lys273Glu					RFC4_uc011bsc.1_Missense_Mutation_p.K273E	p.K273E	NM_002916	NP_002907	P35249	RFC4_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;7.41e-21)	GBM - Glioblastoma multiforme(93;0.0739)	9	1040	-	all_cancers(143;2.92e-12)|Ovarian(172;0.0339)		273					B4DM41|D3DNV2|Q6FHX7	Missense_Mutation	SNP	ENST00000392481.2	37	c.817A>G	CCDS3283.1	.	.	.	.	.	.	.	.	.	.	T	10.14	1.268152	0.23136	.	.	ENSG00000163918	ENST00000392481;ENST00000296273;ENST00000417876	T;T;T	0.39787	1.06;1.06;1.06	5.32	4.16	0.48862	Replication factor C (1);DNA polymerase III, clamp loader complex, gamma/delta/delta subunit, C-terminal (1);	0.213738	0.64402	D	0.000020	T	0.25419	0.0618	N	0.17082	0.46	0.21967	N	0.99945	B	0.06786	0.001	B	0.06405	0.002	T	0.14172	-1.0482	10	0.32370	T	0.25	.	9.5189	0.39122	0.0:0.0846:0.0:0.9154	.	273	P35249	RFC4_HUMAN	E	273;273;48	ENSP00000376272:K273E;ENSP00000296273:K273E;ENSP00000401429:K48E	ENSP00000296273:K273E	K	-	1	0	RFC4	187990874	0.997000	0.39634	0.032000	0.17829	0.552000	0.35366	2.816000	0.48026	0.968000	0.38212	0.459000	0.35465	AAA		PASS	0.443	RFC4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344471.1	NM_002916		35	174	35	174	---	---	---	---
MUC4	4585	broad.mit.edu	37	3	195475876	195475876	+	Missense_Mutation	SNP	C	C	G			TCGA-22-4595-01A-01D-1267-08	TCGA-22-4595-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7fcf5123-2d1b-4666-9d39-a1aaf63cf954	850e8a4d-e0f6-4bd6-80f5-1c20e2b0e4f9	g.chr3:195475876C>G	ENST00000346145.4	-	23	3262	c.3223G>C	c.(3223-3225)Gtc>Ctc	p.V1075L	MUC4_ENST00000463781.3_Missense_Mutation_p.V5311L|MUC4_ENST00000475231.1_Missense_Mutation_p.V5259L|MUC4_ENST00000349607.4_Missense_Mutation_p.V1024L	NM_004532.5	NP_004523.3	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	2068					cell-matrix adhesion (GO:0007160)|cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)|vesicle (GO:0031982)	ErbB-2 class receptor binding (GO:0005176)|extracellular matrix constituent, lubricant activity (GO:0030197)	p.V5311L(1)|p.V1075L(1)|p.V5183L(1)		NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		GGGCTGTAGACCAGGTCGTAG	0.602																																						uc011bto.1																			3	Substitution - Missense(3)		lung(3)		0						c.(15547-15549)GTC>CTC		mucin 4 isoform a							82.0	72.0	75.0					3																	195475876		2203	4300	6503	SO:0001583	missense	4585				cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity	g.chr3:195475876C>G	AJ276359	CCDS3310.1, CCDS3311.1, CCDS54700.1	3q29	2007-01-19	2006-03-14		ENSG00000145113	ENSG00000145113		"""Mucins"""	7514	protein-coding gene	gene with protein product		158372	"""mucin 4, tracheobronchial"""			1673336	Standard	NM_004532		Approved		uc021xjp.1	Q99102	OTTHUMG00000151827	ENST00000346145.4:c.3223G>C	3.37:g.195475876C>G	ENSP00000304207:p.Val1075Leu					MUC4_uc010hzq.2_Missense_Mutation_p.V168L|MUC4_uc003fuz.2_Missense_Mutation_p.V909L|MUC4_uc003fva.2_Missense_Mutation_p.V791L|MUC4_uc003fvb.2_Missense_Mutation_p.V827L|MUC4_uc003fvc.2_RNA|MUC4_uc003fvd.2_RNA|MUC4_uc003fve.2_Missense_Mutation_p.V827L|MUC4_uc010hzr.2_RNA|MUC4_uc011btf.1_Missense_Mutation_p.V791L|MUC4_uc011btg.1_RNA|MUC4_uc011bth.1_Missense_Mutation_p.V875L|MUC4_uc011bti.1_Missense_Mutation_p.V875L|MUC4_uc011btj.1_Missense_Mutation_p.V1052L|MUC4_uc011btk.1_Missense_Mutation_p.V791L|MUC4_uc011btl.1_Missense_Mutation_p.V820L|MUC4_uc011btm.1_Missense_Mutation_p.V1000L|MUC4_uc011btn.1_Missense_Mutation_p.V791L|MUC4_uc003fvo.2_Missense_Mutation_p.V1075L|MUC4_uc003fvp.2_Missense_Mutation_p.V1024L	p.V5183L	NM_018406	NP_060876	Q99102	MUC4_HUMAN	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)	25	16007	-	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	2068					O95938|Q9GZM2|Q9GZV6|Q9H481|Q9H482|Q9H483|Q9H484|Q9H485|Q9H486|Q9H487|Q9H4D6|Q9H4D8|Q9NPJ0|Q9NY09|Q9NY75|Q9NY76|Q9NY77|Q9NY78|Q9NY79|Q9NY80|Q9NY81	Missense_Mutation	SNP	ENST00000346145.4	37	c.15547G>C	CCDS3310.1	.	.	.	.	.	.	.	.	.	.	c	2.930	-0.221212	0.06061	.	.	ENSG00000145113	ENST00000349607;ENST00000346145;ENST00000463781;ENST00000475231;ENST00000392409	T;T;T;T	0.39056	1.1;1.47;1.4;1.45	5.17	3.34	0.38264	.	0.669736	0.12848	N	0.434208	T	0.43743	0.1261	M	0.77820	2.39	0.09310	N	1	P;P;P;B;B;P	0.44281	0.634;0.708;0.708;0.451;0.451;0.831	B;B;B;B;B;B	0.42343	0.231;0.232;0.232;0.07;0.07;0.384	T	0.31308	-0.9948	10	0.36615	T	0.2	-10.221	6.6092	0.22741	0.1761:0.7333:0.0:0.0906	.	5183;1024;1075;5311;5259;2016	E7ESK3;Q99102-12;Q99102-13;E9PDY6;E7ENC5;Q99102-10	.;.;.;.;.;.	L	1024;1075;5311;5259;1811	ENSP00000338109:V1024L;ENSP00000304207:V1075L;ENSP00000417498:V5311L;ENSP00000420243:V5259L	ENSP00000304207:V1075L	V	-	1	0	MUC4	196961547	0.262000	0.24073	0.029000	0.17559	0.006000	0.05464	0.130000	0.15850	0.736000	0.32559	-0.196000	0.12772	GTC		PASS	0.602	MUC4-015	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000341862.1	NM_018406		19	103	19	103	---	---	---	---
GABRB1	2560	broad.mit.edu	37	4	47033717	47033717	+	Missense_Mutation	SNP	G	G	T			TCGA-22-4595-01A-01D-1267-08	TCGA-22-4595-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7fcf5123-2d1b-4666-9d39-a1aaf63cf954	850e8a4d-e0f6-4bd6-80f5-1c20e2b0e4f9	g.chr4:47033717G>T	ENST00000295454.3	+	1	341	c.49G>T	c.(49-51)Gtg>Ttg	p.V17L	GABRB1_ENST00000538619.1_5'UTR|GABRB1_ENST00000509366.1_3'UTR	NM_000812.3	NP_000803.2	P18505	GBRB1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta 1	17					cellular response to histamine (GO:0071420)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|GABA-A receptor complex (GO:1902711)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)|ligand-gated ion channel activity (GO:0015276)	p.V17L(1)		central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44					Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Gamma Hydroxybutyric Acid(DB01440)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Ketazolam(DB01587)|Lindane(DB00431)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	CTCTTTCCCTGTGATGATTAC	0.408																																						uc003gxh.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(49-51)GTG>TTG		gamma-aminobutyric acid (GABA) A receptor, beta	Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)						169.0	175.0	173.0					4																	47033717		2203	4300	6503	SO:0001583	missense	2560				synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity	g.chr4:47033717G>T		CCDS3474.1	4p12	2012-06-22			ENSG00000163288	ENSG00000163288		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4081	protein-coding gene	gene with protein product	"""GABA(A) receptor, beta 1"""	137190					Standard	NM_000812		Approved		uc003gxh.3	P18505	OTTHUMG00000044269	ENST00000295454.3:c.49G>T	4.37:g.47033717G>T	ENSP00000295454:p.Val17Leu					GABRB1_uc011bze.1_5'UTR|GABRB1_uc011bzd.1_Missense_Mutation_p.V17L|GABRB1_uc010igg.2_RNA	p.V17L	NM_000812	NP_000803	P18505	GBRB1_HUMAN			1	423	+			17					B2R6U7|D6REL3|Q16166|Q8TBK3	Missense_Mutation	SNP	ENST00000295454.3	37	c.49G>T	CCDS3474.1	.	.	.	.	.	.	.	.	.	.	G	6.357	0.434019	0.12045	.	.	ENSG00000163288	ENST00000295454	T	0.80033	-1.33	4.46	2.68	0.31781	.	0.260251	0.25456	N	0.030557	T	0.58566	0.2131	N	0.14661	0.345	0.80722	D	1	B;B	0.31548	0.328;0.0	B;B	0.27076	0.076;0.0	T	0.51585	-0.8687	10	0.09590	T	0.72	-9.645	8.7182	0.34425	0.1944:0.0:0.8056:0.0	.	17;17	B4DJD0;P18505	.;GBRB1_HUMAN	L	17	ENSP00000295454:V17L	ENSP00000295454:V17L	V	+	1	0	GABRB1	46728474	0.278000	0.24230	1.000000	0.80357	0.682000	0.39822	0.352000	0.20113	1.084000	0.41184	0.558000	0.71614	GTG		PASS	0.408	GABRB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216896.1			77	265	77	265	---	---	---	---
CWH43	80157	broad.mit.edu	37	4	49052819	49052819	+	Silent	SNP	G	G	C			TCGA-22-4595-01A-01D-1267-08	TCGA-22-4595-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7fcf5123-2d1b-4666-9d39-a1aaf63cf954	850e8a4d-e0f6-4bd6-80f5-1c20e2b0e4f9	g.chr4:49052819G>C	ENST00000226432.4	+	15	2157	c.1974G>C	c.(1972-1974)gtG>gtC	p.V658V	CWH43_ENST00000513409.1_Silent_p.V631V	NM_025087.2	NP_079363.2	Q9H720	PG2IP_HUMAN	cell wall biogenesis 43 C-terminal homolog (S. cerevisiae)	658					GPI anchor biosynthetic process (GO:0006506)	integral component of membrane (GO:0016021)		p.V658V(1)		cervix(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(26)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	43						ACCAGAAAGTGGTCATAGACC	0.408																																						uc003gyv.2																			1	Substitution - coding silent(1)		lung(1)	skin(2)|ovary(1)	3						c.(1972-1974)GTG>GTC		cell wall biogenesis 43 C-terminal homolog							62.0	62.0	62.0					4																	49052819		2203	4300	6503	SO:0001819	synonymous_variant	80157				GPI anchor biosynthetic process	integral to membrane		g.chr4:49052819G>C		CCDS3486.1, CCDS68697.1	4p12-p11	2010-09-21			ENSG00000109182	ENSG00000109182			26133	protein-coding gene	gene with protein product						17714445, 17761529	Standard	NM_025087		Approved	FLJ21511, CWH43-C	uc003gyv.3	Q9H720	OTTHUMG00000128627	ENST00000226432.4:c.1974G>C	4.37:g.49052819G>C						CWH43_uc011bzl.1_Silent_p.V631V	p.V658V	NM_025087	NP_079363	Q9H720	PG2IP_HUMAN			15	2156	+			658					B2RPD7	Silent	SNP	ENST00000226432.4	37	c.1974G>C	CCDS3486.1																																																																																				PASS	0.408	CWH43-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250496.2	NM_025087		21	85	21	85	---	---	---	---
PDGFRA	5156	broad.mit.edu	37	4	55127335	55127335	+	Silent	SNP	G	G	C			TCGA-22-4595-01A-01D-1267-08	TCGA-22-4595-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7fcf5123-2d1b-4666-9d39-a1aaf63cf954	850e8a4d-e0f6-4bd6-80f5-1c20e2b0e4f9	g.chr4:55127335G>C	ENST00000257290.5	+	3	454	c.123G>C	c.(121-123)ctG>ctC	p.L41L	FIP1L1_ENST00000507166.1_Intron|PDGFRA_ENST00000508170.1_Silent_p.L41L	NM_006206.4	NP_006197.1	P16234	PGFRA_HUMAN	platelet-derived growth factor receptor, alpha polypeptide	41	Ig-like C2-type 1.				adrenal gland development (GO:0030325)|cardiac myofibril assembly (GO:0055003)|cell activation (GO:0001775)|cell chemotaxis (GO:0060326)|cellular response to amino acid stimulus (GO:0071230)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic skeletal system morphogenesis (GO:0048704)|epidermal growth factor receptor signaling pathway (GO:0007173)|estrogen metabolic process (GO:0008210)|extracellular matrix organization (GO:0030198)|face morphogenesis (GO:0060325)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|hematopoietic progenitor cell differentiation (GO:0002244)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|Leydig cell differentiation (GO:0033327)|lung development (GO:0030324)|luteinization (GO:0001553)|male genitalia development (GO:0030539)|metanephric glomerular capillary formation (GO:0072277)|negative regulation of platelet activation (GO:0010544)|neurotrophin TRK receptor signaling pathway (GO:0048011)|odontogenesis of dentin-containing tooth (GO:0042475)|palate development (GO:0060021)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet aggregation (GO:0070527)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|platelet-derived growth factor receptor-alpha signaling pathway (GO:0035790)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell proliferation by VEGF-activated platelet derived growth factor receptor signaling pathway (GO:0038091)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of DNA replication (GO:0045740)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast proliferation (GO:0048146)|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)|protein autophosphorylation (GO:0046777)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of chemotaxis (GO:0050920)|regulation of mesenchymal stem cell differentiation (GO:2000739)|retina vasculature development in camera-type eye (GO:0061298)|signal transduction involved in regulation of gene expression (GO:0023019)|viral process (GO:0016032)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|intrinsic component of plasma membrane (GO:0031226)|membrane (GO:0016020)|microvillus (GO:0005902)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|platelet-derived growth factor alpha-receptor activity (GO:0005018)|platelet-derived growth factor binding (GO:0048407)|platelet-derived growth factor receptor binding (GO:0005161)|protein homodimerization activity (GO:0042803)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor binding (GO:0038085)|vascular endothelial growth factor-activated receptor activity (GO:0005021)	p.L41L(1)		NS(1)|autonomic_ganglia(1)|bone(1)|breast(4)|central_nervous_system(17)|cervix(1)|endometrium(4)|eye(1)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(22)|kidney(6)|large_intestine(26)|liver(4)|lung(48)|ovary(4)|prostate(6)|skin(11)|small_intestine(49)|soft_tissue(727)|stomach(32)|urinary_tract(1)	967	all_cancers(7;0.000425)|all_lung(4;0.000343)|Lung NSC(11;0.000467)|all_epithelial(27;0.0131)|all_neural(26;0.0209)|Glioma(25;0.08)		GBM - Glioblastoma multiforme(1;4.18e-71)|all cancers(1;4.76e-45)|LUSC - Lung squamous cell carcinoma(32;0.00256)		Becaplermin(DB00102)|Imatinib(DB00619)|Pazopanib(DB06589)|Ponatinib(DB08901)|Regorafenib(DB08896)|Sunitinib(DB01268)	TTGTGCAGCTGAATTCATCCT	0.463			"""Mis, O, T"""	FIP1L1	"""GIST, idiopathic hypereosinophilic syndrome, paediatric GBM"""				Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Intestinal Neurofibromatosis	TSP Lung(21;0.16)																											Pancreas(151;208 1913 7310 23853 37092)	uc003han.3				Dom	yes		4	4q11-q13	5156	Mis|O|T	"""platelet-derived growth factor, alpha-receptor"""			"""L, M, O"""	FIP1L1		GIST|idiopathic hypereosinophilic syndrome		1	Substitution - coding silent(1)		lung(1)	soft_tissue(572)|small_intestine(40)|stomach(16)|lung(16)|central_nervous_system(13)|haematopoietic_and_lymphoid_tissue(7)|skin(3)|ovary(3)|gastrointestinal_tract_(site_indeterminate)(1)|autonomic_ganglia(1)|prostate(1)|bone(1)	674						c.(121-123)CTG>CTC		platelet-derived growth factor receptor alpha	Becaplermin(DB00102)|Imatinib(DB00619)|Sunitinib(DB01268)						112.0	116.0	115.0					4																	55127335		2203	4300	6503	SO:0001819	synonymous_variant	5156	Gastrointestinal_Stromal_Tumors_Sporadic_Multiple_Primary|Familial_Intestinal_Neurofibromatosis	Familial Cancer Database	Sporadic Multiple GIST;Familial Intestinal Stromal Tumors, NF3B, subset of Familial GIST,	cardiac myofibril assembly|cell activation|luteinization|metanephric glomerular capillary formation|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of DNA replication|positive regulation of fibroblast proliferation|protein autophosphorylation|retina vasculature development in camera-type eye	cytoplasm|integral to plasma membrane|nucleus	ATP binding|platelet-derived growth factor alpha-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|protein homodimerization activity|vascular endothelial growth factor receptor activity	g.chr4:55127335G>C	D50001	CCDS3495.1	4q12	2014-09-17			ENSG00000134853	ENSG00000134853		"""CD molecules"", ""Immunoglobulin superfamily / I-set domain containing"""	8803	protein-coding gene	gene with protein product		173490					Standard	NM_006206		Approved	CD140a, PDGFR2	uc003han.4	P16234	OTTHUMG00000128699	ENST00000257290.5:c.123G>C	4.37:g.55127335G>C		TSP Lung(21;0.16)				PDGFRA_uc003haa.2_Intron|PDGFRA_uc003hal.2_Silent_p.L41L|PDGFRA_uc010igq.1_Intron|PDGFRA_uc003ham.2_RNA	p.L41L	NM_006206	NP_006197	P16234	PGFRA_HUMAN	GBM - Glioblastoma multiforme(1;4.18e-71)|all cancers(1;4.76e-45)|LUSC - Lung squamous cell carcinoma(32;0.00256)		3	454	+	all_cancers(7;0.000425)|all_lung(4;0.000343)|Lung NSC(11;0.000467)|all_epithelial(27;0.0131)|all_neural(26;0.0209)|Glioma(25;0.08)		41			Ig-like C2-type 1.|Extracellular (Potential).		B2RE69|E9PBH0|Q6P4H5|Q96KZ7|Q9UD28	Silent	SNP	ENST00000257290.5	37	c.123G>C	CCDS3495.1																																																																																				PASS	0.463	PDGFRA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250598.2	NM_006206		87	215	87	215	---	---	---	---
UGT2B4	7363	broad.mit.edu	37	4	70352343	70352343	+	Silent	SNP	G	G	T			TCGA-22-4595-01A-01D-1267-08	TCGA-22-4595-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7fcf5123-2d1b-4666-9d39-a1aaf63cf954	850e8a4d-e0f6-4bd6-80f5-1c20e2b0e4f9	g.chr4:70352343G>T	ENST00000305107.6	-	4	1120	c.1074C>A	c.(1072-1074)ccC>ccA	p.P358P	UGT2B4_ENST00000381096.3_Silent_p.P222P|UGT2B4_ENST00000512583.1_Silent_p.P358P|UGT2B4_ENST00000506580.1_5'UTR	NM_021139.2	NP_066962.2	P06133	UD2B4_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B4	358					cellular glucuronidation (GO:0052695)|estrogen catabolic process (GO:0006711)|metabolic process (GO:0008152)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	glucuronosyltransferase activity (GO:0015020)	p.P358P(1)		autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(29)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	47					Canagliflozin(DB08907)|Codeine(DB00318)|Dapagliflozin(DB06292)|Flurbiprofen(DB00712)|Ibuprofen(DB01050)|Morphine(DB00295)	GATCATTCTGGGGTATCCACT	0.338																																						uc003hek.3																			1	Substitution - coding silent(1)		lung(1)	skin(2)	2						c.(1072-1074)CCC>CCA		UDP glucuronosyltransferase 2B4 precursor							122.0	126.0	125.0					4																	70352343		2203	4300	6503	SO:0001819	synonymous_variant	7363				estrogen catabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity	g.chr4:70352343G>T	BC026264	CCDS43234.1, CCDS75137.1	4q13	2008-02-05	2005-07-20			ENSG00000156096		"""UDP glucuronosyltransferases"""	12553	protein-coding gene	gene with protein product		600067	"""UDP glycosyltransferase 2 family, polypeptide B4"""			3109396, 7835904	Standard	NM_021139		Approved	UGT2B11	uc003hek.4	P06133		ENST00000305107.6:c.1074C>A	4.37:g.70352343G>T						UGT2B4_uc011cap.1_Silent_p.P222P|UGT2B4_uc003hel.3_Silent_p.P358P	p.P358P	NM_021139	NP_066962	P06133	UD2B4_HUMAN			4	1121	-			358					A6NCP7|B4DT75|G5E9X8|O60731|O60867|O75614|P36538|Q1HBF9|Q6QQX7	Silent	SNP	ENST00000305107.6	37	c.1074C>A	CCDS43234.1																																																																																				PASS	0.338	UGT2B4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365526.1	NM_021139		33	209	33	209	---	---	---	---
CCDC158	339965	broad.mit.edu	37	4	77290599	77290599	+	Nonsense_Mutation	SNP	G	G	A			TCGA-22-4595-01A-01D-1267-08	TCGA-22-4595-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7fcf5123-2d1b-4666-9d39-a1aaf63cf954	850e8a4d-e0f6-4bd6-80f5-1c20e2b0e4f9	g.chr4:77290599G>A	ENST00000388914.3	-	10	1479	c.1327C>T	c.(1327-1329)Cag>Tag	p.Q443*		NM_001042784.1	NP_001036249.1	Q5M9N0	CD158_HUMAN	coiled-coil domain containing 158	443								p.Q443*(1)		breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|stomach(1)	56						ATCTGGCCCTGACACTCGCTC	0.542																																						uc003hkb.3																			1	Substitution - Nonsense(1)		lung(1)	skin(3)|ovary(2)|pancreas(1)	6						c.(1327-1329)CAG>TAG		coiled-coil domain containing 158							49.0	54.0	53.0					4																	77290599		2041	4179	6220	SO:0001587	stop_gained	339965							g.chr4:77290599G>A	BC035224	CCDS43242.1	4q21.1	2009-04-06			ENSG00000163749	ENSG00000163749			26374	protein-coding gene	gene with protein product						12477932	Standard	NM_001042784		Approved	FLJ25770	uc003hkb.4	Q5M9N0	OTTHUMG00000160916	ENST00000388914.3:c.1327C>T	4.37:g.77290599G>A	ENSP00000373566:p.Gln443*						p.Q443*	NM_001042784	NP_001036249	Q5M9N0	CD158_HUMAN			10	1480	-			443			Potential.		Q8IYQ1|Q8N7D4|Q8N7E3	Nonsense_Mutation	SNP	ENST00000388914.3	37	c.1327C>T	CCDS43242.1	.	.	.	.	.	.	.	.	.	.	G	39	7.538297	0.98345	.	.	ENSG00000163749	ENST00000388914	.	.	.	5.63	5.63	0.86233	.	0.000000	0.53938	D	0.000060	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.25106	T	0.35	.	12.1875	0.54247	0.0803:0.0:0.9197:0.0	.	.	.	.	X	443	.	ENSP00000373566:Q443X	Q	-	1	0	CCDC158	77509623	1.000000	0.71417	0.999000	0.59377	0.993000	0.82548	4.732000	0.62029	2.657000	0.90304	0.555000	0.69702	CAG		PASS	0.542	CCDC158-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362694.2	NM_001042784		25	90	25	90	---	---	---	---
BMP3	651	broad.mit.edu	37	4	81967617	81967617	+	Missense_Mutation	SNP	A	A	T			TCGA-22-4595-01A-01D-1267-08	TCGA-22-4595-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7fcf5123-2d1b-4666-9d39-a1aaf63cf954	850e8a4d-e0f6-4bd6-80f5-1c20e2b0e4f9	g.chr4:81967617A>T	ENST00000282701.2	+	2	1362	c.1042A>T	c.(1042-1044)Acg>Tcg	p.T348S		NM_001201.2	NP_001192.2	P12645	BMP3_HUMAN	bone morphogenetic protein 3	348					cartilage development (GO:0051216)|cell differentiation (GO:0030154)|cell-cell signaling (GO:0007267)|growth (GO:0040007)|ossification (GO:0001503)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|skeletal system development (GO:0001501)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	BMP receptor binding (GO:0070700)|receptor binding (GO:0005102)	p.T348S(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(8)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(1)	29						GAAGAGCCAGACGCTCCAATT	0.493																																						uc003hmg.3																			1	Substitution - Missense(1)		lung(1)	ovary(4)|central_nervous_system(1)	5						c.(1042-1044)ACG>TCG		bone morphogenetic protein 3 preproprotein							55.0	54.0	54.0					4																	81967617		2203	4300	6503	SO:0001583	missense	651				cartilage development|cell differentiation|cell-cell signaling|growth|ossification	extracellular space	BMP receptor binding|cytokine activity|growth factor activity	g.chr4:81967617A>T	M22491	CCDS3588.1	4q21	2013-02-06	2008-05-22		ENSG00000152785	ENSG00000152785		"""Bone morphogenetic proteins"""	1070	protein-coding gene	gene with protein product	"""osteogenin"""	112263	"""bone morphogenetic protein 3 (osteogenic)"""				Standard	NM_001201		Approved		uc003hmg.4	P12645	OTTHUMG00000130292	ENST00000282701.2:c.1042A>T	4.37:g.81967617A>T	ENSP00000282701:p.Thr348Ser						p.T348S	NM_001201	NP_001192	P12645	BMP3_HUMAN			2	1362	+			348					Q4VAS5	Missense_Mutation	SNP	ENST00000282701.2	37	c.1042A>T	CCDS3588.1	.	.	.	.	.	.	.	.	.	.	A	17.50	3.404619	0.62288	.	.	ENSG00000152785	ENST00000282701	T	0.73897	-0.79	5.16	5.16	0.70880	.	0.156321	0.64402	D	0.000019	T	0.80149	0.4570	M	0.72479	2.2	0.41624	D	0.988988	D	0.63880	0.993	P	0.52957	0.714	T	0.80432	-0.1385	10	0.35671	T	0.21	.	14.9465	0.71035	1.0:0.0:0.0:0.0	.	348	P12645	BMP3_HUMAN	S	348	ENSP00000282701:T348S	ENSP00000282701:T348S	T	+	1	0	BMP3	82186641	1.000000	0.71417	0.996000	0.52242	0.429000	0.31625	3.292000	0.51772	2.072000	0.62099	0.533000	0.62120	ACG		PASS	0.493	BMP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252634.1			16	59	16	59	---	---	---	---
C4orf17	84103	broad.mit.edu	37	4	100460363	100460363	+	Silent	SNP	G	G	A			TCGA-22-4595-01A-01D-1267-08	TCGA-22-4595-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7fcf5123-2d1b-4666-9d39-a1aaf63cf954	850e8a4d-e0f6-4bd6-80f5-1c20e2b0e4f9	g.chr4:100460363G>A	ENST00000326581.4	+	7	1034	c.672G>A	c.(670-672)gaG>gaA	p.E224E	C4orf17_ENST00000514652.1_Silent_p.E224E	NM_032149.2	NP_115525.2	Q53FE4	CD017_HUMAN	chromosome 4 open reading frame 17	224								p.E224E(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(9)|prostate(1)|urinary_tract(3)	18				OV - Ovarian serous cystadenocarcinoma(123;2.08e-08)		AGCTTGCCGAGATAAACCTGT	0.438																																						uc003huw.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(670-672)GAG>GAA		hypothetical protein LOC84103							144.0	151.0	149.0					4																	100460363		2203	4300	6503	SO:0001819	synonymous_variant	84103							g.chr4:100460363G>A	AL136838	CCDS3649.1	4q23	2008-02-05			ENSG00000138813	ENSG00000138813			25274	protein-coding gene	gene with protein product						11230166	Standard	NM_032149		Approved	DKFZP434G072	uc003huw.3	Q53FE4	OTTHUMG00000131027	ENST00000326581.4:c.672G>A	4.37:g.100460363G>A						C4orf17_uc003hux.2_RNA	p.E224E	NM_032149	NP_115525	Q53FE4	CD017_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;2.08e-08)	7	995	+			224					Q6FI84|Q6IS77|Q8NA78|Q9H0D9	Silent	SNP	ENST00000326581.4	37	c.672G>A	CCDS3649.1																																																																																				PASS	0.438	C4orf17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253670.2	NM_032149		97	205	97	205	---	---	---	---
ANK2	287	broad.mit.edu	37	4	114267166	114267166	+	Silent	SNP	G	G	C	rs183590716		TCGA-22-4595-01A-01D-1267-08	TCGA-22-4595-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7fcf5123-2d1b-4666-9d39-a1aaf63cf954	850e8a4d-e0f6-4bd6-80f5-1c20e2b0e4f9	g.chr4:114267166G>C	ENST00000357077.4	+	35	4412	c.4359G>C	c.(4357-4359)ccG>ccC	p.P1453P	ANK2_ENST00000510275.2_Silent_p.P105P|ANK2_ENST00000509550.1_Silent_p.P629P|ANK2_ENST00000506722.1_Silent_p.P1444P|ANK2_ENST00000394537.3_Silent_p.P1453P|ANK2_ENST00000264366.6_Silent_p.P1420P	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	1453	Death 1. {ECO:0000255|PROSITE- ProRule:PRU00064}.				atrial cardiac muscle cell action potential (GO:0086014)|atrial cardiac muscle cell to AV node cell communication (GO:0086066)|atrial septum development (GO:0003283)|axon guidance (GO:0007411)|cardiac muscle contraction (GO:0060048)|cellular calcium ion homeostasis (GO:0006874)|cellular protein localization (GO:0034613)|membrane depolarization during SA node cell action potential (GO:0086046)|paranodal junction assembly (GO:0030913)|positive regulation of calcium ion transmembrane transporter activity (GO:1901021)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cation channel activity (GO:2001259)|positive regulation of gene expression (GO:0010628)|positive regulation of potassium ion transmembrane transporter activity (GO:1901018)|positive regulation of potassium ion transport (GO:0043268)|protein localization to cell surface (GO:0034394)|protein localization to endoplasmic reticulum (GO:0070972)|protein localization to M-band (GO:0036309)|protein localization to organelle (GO:0033365)|protein localization to plasma membrane (GO:0072659)|protein localization to T-tubule (GO:0036371)|protein stabilization (GO:0050821)|protein targeting to plasma membrane (GO:0072661)|regulation of calcium ion transmembrane transporter activity (GO:1901019)|regulation of calcium ion transport (GO:0051924)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of cardiac muscle cell membrane potential (GO:0086036)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of protein stability (GO:0031647)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|response to methylmercury (GO:0051597)|SA node cell action potential (GO:0086015)|SA node cell to atrial cardiac muscle cell communication (GO:0086070)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|T-tubule organization (GO:0033292)|ventricular cardiac muscle cell action potential (GO:0086005)	A band (GO:0031672)|basolateral plasma membrane (GO:0016323)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|intracellular (GO:0005622)|M band (GO:0031430)|membrane raft (GO:0045121)|neuron projection (GO:0043005)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)	ATPase binding (GO:0051117)|enzyme binding (GO:0019899)|ion channel binding (GO:0044325)|potassium channel regulator activity (GO:0015459)|protein binding, bridging (GO:0030674)|protein kinase binding (GO:0019901)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)	p.P1453P(2)		NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		TCACTTTGCCGATTTATACAA	0.393																																						uc003ibe.3																			2	Substitution - coding silent(2)		large_intestine(1)|lung(1)	central_nervous_system(7)|ovary(3)|large_intestine(2)|breast(1)|skin(1)	14						c.(4357-4359)CCG>CCC		ankyrin 2 isoform 1							111.0	99.0	103.0					4																	114267166		2203	4300	6503	SO:0001819	synonymous_variant	287				axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding|protein binding	g.chr4:114267166G>C	M37123	CCDS3702.1, CCDS43261.1, CCDS54796.1	4q25-q26	2014-09-17	2003-03-12		ENSG00000145362	ENSG00000145362		"""Ankyrin repeat domain containing"""	493	protein-coding gene	gene with protein product		106410	"""long (electrocardiographic) QT syndrome 4"""	LQT4		7485162, 12571597	Standard	NM_001148		Approved		uc003ibe.4	Q01484	OTTHUMG00000132912	ENST00000357077.4:c.4359G>C	4.37:g.114267166G>C						ANK2_uc003ibd.3_Silent_p.P1444P|ANK2_uc003ibf.3_Silent_p.P1453P|ANK2_uc011cgc.1_Silent_p.P629P|ANK2_uc003ibg.3_Silent_p.P448P|ANK2_uc003ibh.3_Silent_p.P127P|ANK2_uc011cgb.1_Silent_p.P1468P	p.P1453P	NM_001148	NP_001139	Q01484	ANK2_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)	35	4459	+		Ovarian(17;0.0448)|Hepatocellular(203;0.218)	1420					Q01485|Q08AC7|Q08AC8|Q7Z3L5	Silent	SNP	ENST00000357077.4	37	c.4359G>C	CCDS3702.1	.	.	.	.	.	.	.	.	.	.	G	6.871	0.530064	0.13127	.	.	ENSG00000145362	ENST00000514960;ENST00000504415	.	.	.	5.89	-6.29	0.02013	.	.	.	.	.	T	0.36248	0.0960	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.39121	-0.9629	4	.	.	.	.	2.3502	0.04281	0.2541:0.1865:0.3769:0.1825	.	.	.	.	H	466;106	.	.	D	+	1	0	ANK2	114486615	0.000000	0.05858	0.176000	0.23000	0.989000	0.77384	-2.212000	0.01225	-1.090000	0.03069	0.585000	0.79938	GAT		PASS	0.393	ANK2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256422.2	NM_001148		34	72	34	72	---	---	---	---
EXOSC9	5393	broad.mit.edu	37	4	122722986	122722986	+	Missense_Mutation	SNP	T	T	G			TCGA-22-4595-01A-01D-1267-08	TCGA-22-4595-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7fcf5123-2d1b-4666-9d39-a1aaf63cf954	850e8a4d-e0f6-4bd6-80f5-1c20e2b0e4f9	g.chr4:122722986T>G	ENST00000243498.5	+	2	179	c.71T>G	c.(70-72)cTg>cGg	p.L24R	EXOSC9_ENST00000379663.3_Missense_Mutation_p.L24R|EXOSC9_ENST00000512454.1_Missense_Mutation_p.L8R|EXOSC9_ENST00000509980.1_3'UTR	NM_005033.2	NP_005024.2	Q06265	EXOS9_HUMAN	exosome component 9	24	ARE binding.				exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|immune response (GO:0006955)|mRNA metabolic process (GO:0016071)|nuclear mRNA surveillance (GO:0071028)|nuclear polyadenylation-dependent rRNA catabolic process (GO:0071035)|nuclear-transcribed mRNA catabolic process (GO:0000956)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|positive regulation of cell growth (GO:0030307)|RNA metabolic process (GO:0016070)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)|rRNA processing (GO:0006364)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|exosome (RNase complex) (GO:0000178)|intermediate filament cytoskeleton (GO:0045111)|nuclear exosome (RNase complex) (GO:0000176)|nucleolus (GO:0005730)|nucleus (GO:0005634)	3'-5'-exoribonuclease activity (GO:0000175)|AU-rich element binding (GO:0017091)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)	p.L24R(1)		cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(4)|urinary_tract(1)	16						TTACAGCGGCTGGATGGCAGA	0.403																																						uc003iea.2																			1	Substitution - Missense(1)		lung(1)		0						c.(70-72)CTG>CGG		exosome component 9 isoform 2							95.0	87.0	90.0					4																	122722986		2203	4300	6503	SO:0001583	missense	5393				exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|immune response|nuclear mRNA surveillance|nuclear polyadenylation-dependent rRNA catabolic process|positive regulation of cell growth|rRNA processing	cytosol|nuclear exosome (RNase complex)|nucleolus|nucleolus|nucleus	3'-5'-exoribonuclease activity|AU-rich element binding|protein binding	g.chr4:122722986T>G	M58460	CCDS3722.2, CCDS34057.1	4q27	2010-05-07	2004-06-16	2004-06-18	ENSG00000123737	ENSG00000123737	3.1.13.-		9137	protein-coding gene	gene with protein product	"""polymyositis/scleroderma autoantigen 1 (75kD)"""	606180	"""polymyositis/scleroderma autoantigen 1, 75kDa"""	PMSCL1			Standard	XR_427545		Approved	PM/Scl-75, Rrp45p, RRP45, p5, p6	uc003idz.3	Q06265	OTTHUMG00000128783	ENST00000243498.5:c.71T>G	4.37:g.122722986T>G	ENSP00000243498:p.Leu24Arg					EXOSC9_uc003idz.2_Missense_Mutation_p.L24R|EXOSC9_uc003ieb.2_Missense_Mutation_p.L8R|EXOSC9_uc010inp.1_5'Flank	p.L24R	NM_005033	NP_005024	Q06265	EXOS9_HUMAN			2	179	+			24			ARE binding.		Q12883|Q4W5P5|Q86Y41|Q86Y48	Missense_Mutation	SNP	ENST00000243498.5	37	c.71T>G	CCDS3722.2	.	.	.	.	.	.	.	.	.	.	T	26.0	4.697401	0.88830	.	.	ENSG00000123737	ENST00000243498;ENST00000379663;ENST00000509800;ENST00000512454	T;T;T;T	0.48522	0.81;0.81;0.81;0.81	5.61	5.61	0.85477	Ribosomal protein S5 domain 2-type fold (1);	0.000000	0.64402	D	0.000001	T	0.74650	0.3744	M	0.90870	3.155	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.999	D;D;D	0.71870	0.975;0.975;0.975	T	0.81393	-0.0953	10	0.87932	D	0	-11.6944	15.4889	0.75590	0.0:0.0:0.0:1.0	.	8;24;24	D6RIY6;Q06265;Q06265-2	.;EXOS9_HUMAN;.	R	24;24;24;8	ENSP00000243498:L24R;ENSP00000368984:L24R;ENSP00000422205:L24R;ENSP00000425782:L8R	ENSP00000243498:L24R	L	+	2	0	EXOSC9	122942436	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.011000	0.76359	2.132000	0.65825	0.528000	0.53228	CTG		PASS	0.403	EXOSC9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250708.2	NM_005033		31	81	31	81	---	---	---	---
HHIP	64399	broad.mit.edu	37	4	145640048	145640048	+	Missense_Mutation	SNP	G	G	C			TCGA-22-4595-01A-01D-1267-08	TCGA-22-4595-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7fcf5123-2d1b-4666-9d39-a1aaf63cf954	850e8a4d-e0f6-4bd6-80f5-1c20e2b0e4f9	g.chr4:145640048G>C	ENST00000296575.3	+	11	2355	c.1700G>C	c.(1699-1701)aGc>aCc	p.S567T		NM_022475.2	NP_071920.1	Q96QV1	HHIP_HUMAN	hedgehog interacting protein	567					carbohydrate metabolic process (GO:0005975)|dorsal/ventral pattern formation (GO:0009953)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|negative regulation of signal transduction (GO:0009968)|negative regulation of smoothened signaling pathway (GO:0045879)|neuroblast proliferation (GO:0007405)|regulation of fibroblast growth factor receptor signaling pathway (GO:0040036)|skeletal system morphogenesis (GO:0048705)|smoothened signaling pathway (GO:0007224)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	hedgehog family protein binding (GO:0097108)|oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor (GO:0016901)|quinone binding (GO:0048038)|zinc ion binding (GO:0008270)	p.S567T(1)		central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	33	all_hematologic(180;0.151)			GBM - Glioblastoma multiforme(119;0.0185)		ATTTTATCAAGCAGTAAAAGT	0.328																																						uc003ijs.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)	6						c.(1699-1701)AGC>ACC		hedgehog-interacting protein precursor							112.0	115.0	114.0					4																	145640048		2203	4300	6503	SO:0001583	missense	64399					cytoplasm|extracellular region	catalytic activity|protein binding|zinc ion binding	g.chr4:145640048G>C	AK024645	CCDS3762.1	4q31.21-q31.3	2008-08-29	2001-11-29		ENSG00000164161	ENSG00000164161			14866	protein-coding gene	gene with protein product		606178	"""hedgehog-interacting protein"""			11435703, 11731473	Standard	NM_022475		Approved	HIP, FLJ20992	uc003ijs.2	Q96QV1	OTTHUMG00000161428	ENST00000296575.3:c.1700G>C	4.37:g.145640048G>C	ENSP00000296575:p.Ser567Thr						p.S567T	NM_022475	NP_071920	Q96QV1	HHIP_HUMAN		GBM - Glioblastoma multiforme(119;0.0185)	11	2355	+	all_hematologic(180;0.151)		567					Q6PK09|Q8NCI7|Q9BXK3|Q9H1J4|Q9H7E7	Missense_Mutation	SNP	ENST00000296575.3	37	c.1700G>C	CCDS3762.1	.	.	.	.	.	.	.	.	.	.	G	7.642	0.681095	0.14907	.	.	ENSG00000164161	ENST00000296575	T	0.05258	3.47	5.95	5.95	0.96441	Six-bladed beta-propeller, TolB-like (1);	0.116478	0.85682	D	0.000000	T	0.12944	0.0314	N	0.20766	0.605	0.80722	D	1	P	0.39903	0.694	P	0.62491	0.903	T	0.04065	-1.0980	10	0.02654	T	1	-13.4976	20.3747	0.98911	0.0:0.0:1.0:0.0	.	567	Q96QV1	HHIP_HUMAN	T	567	ENSP00000296575:S567T	ENSP00000296575:S567T	S	+	2	0	HHIP	145859498	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	5.129000	0.64739	2.817000	0.96982	0.563000	0.77884	AGC		PASS	0.328	HHIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364887.2			26	71	26	71	---	---	---	---
ASIC5	51802	broad.mit.edu	37	4	156757953	156757953	+	Missense_Mutation	SNP	C	C	A			TCGA-22-4595-01A-01D-1267-08	TCGA-22-4595-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7fcf5123-2d1b-4666-9d39-a1aaf63cf954	850e8a4d-e0f6-4bd6-80f5-1c20e2b0e4f9	g.chr4:156757953C>A	ENST00000537611.2	-	8	1169	c.1123G>T	c.(1123-1125)Gtt>Ttt	p.V375F		NM_017419.2	NP_059115.1	Q9NY37	ASIC5_HUMAN	acid-sensing (proton-gated) ion channel family member 5	375					ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	hydrogen ion channel activity (GO:0015252)|ligand-gated sodium channel activity (GO:0015280)	p.V375F(1)									TCACAAGAAACGGGGCAGCTA	0.363																																						uc003ipe.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(1)	3						c.(1123-1125)GTT>TTT		amiloride-sensitive cation channel 5,							80.0	86.0	84.0					4																	156757953		2203	4300	6503	SO:0001583	missense	51802					integral to membrane|plasma membrane		g.chr4:156757953C>A	AJ252011	CCDS3793.1	4q32.1	2012-10-03	2012-03-02	2012-03-02	ENSG00000256394	ENSG00000256394			17537	protein-coding gene	gene with protein product			"""amiloride-sensitive cation channel 5, intestinal"""	ACCN5		10767424	Standard	NM_017419		Approved	INAC, HINAC	uc003ipe.1	Q9NY37	OTTHUMG00000161941	ENST00000537611.2:c.1123G>T	4.37:g.156757953C>A	ENSP00000442477:p.Val375Phe						p.V375F	NM_017419	NP_059115	Q9NY37	ACCN5_HUMAN		KIRC - Kidney renal clear cell carcinoma(143;0.0464)|Kidney(143;0.058)|COAD - Colon adenocarcinoma(41;0.141)	8	1170	-	all_hematologic(180;0.24)	Renal(120;0.0458)	375			Extracellular (Potential).			Missense_Mutation	SNP	ENST00000537611.2	37	c.1123G>T	CCDS3793.1	.	.	.	.	.	.	.	.	.	.	C	24.3	4.518395	0.85495	.	.	ENSG00000256394	ENST00000537611	T	0.64085	-0.08	4.8	4.8	0.61643	.	0.323208	0.25408	N	0.030893	T	0.77909	0.4201	M	0.83012	2.62	0.41134	D	0.985908	D	0.53745	0.962	P	0.56216	0.794	T	0.81642	-0.0840	10	0.59425	D	0.04	-19.9491	18.7444	0.91787	0.0:1.0:0.0:0.0	.	375	Q9NY37	ACCN5_HUMAN	F	375	ENSP00000442477:V375F	ENSP00000264432:V375F	V	-	1	0	ACCN5	156977403	1.000000	0.71417	0.968000	0.41197	0.985000	0.73830	4.926000	0.63433	2.594000	0.87642	0.655000	0.94253	GTT		PASS	0.363	ASIC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366464.1			27	101	27	101	---	---	---	---
FNIP2	57600	broad.mit.edu	37	4	159782811	159782811	+	Missense_Mutation	SNP	C	C	G			TCGA-22-4595-01A-01D-1267-08	TCGA-22-4595-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7fcf5123-2d1b-4666-9d39-a1aaf63cf954	850e8a4d-e0f6-4bd6-80f5-1c20e2b0e4f9	g.chr4:159782811C>G	ENST00000264433.6	+	12	1423	c.1348C>G	c.(1348-1350)Cca>Gca	p.P450A	FNIP2_ENST00000379346.3_Missense_Mutation_p.P473A	NM_020840.1	NP_065891.1	Q9P278	FNIP2_HUMAN	folliculin interacting protein 2	450					intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein phosphorylation (GO:0006468)|regulation of protein phosphorylation (GO:0001932)	cytoplasm (GO:0005737)|microtubule organizing center (GO:0005815)|nucleus (GO:0005634)|plasma membrane (GO:0005886)		p.P450A(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)	9	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.00936)		GGCCTGGGTCCCAACTGTCAT	0.473																																						uc003iqe.3																			1	Substitution - Missense(1)		lung(1)		0						c.(1348-1350)CCA>GCA		folliculin interacting protein 2							135.0	128.0	130.0					4																	159782811		1968	4159	6127	SO:0001583	missense	57600				DNA damage response, signal transduction resulting in induction of apoptosis|protein phosphorylation|regulation of protein phosphorylation	cytoplasm	protein binding	g.chr4:159782811C>G	AB040883	CCDS47155.1	4q32.1	2012-10-31			ENSG00000052795	ENSG00000052795			29280	protein-coding gene	gene with protein product	"""O6-methylguanine-induced apoptosis 1"""	612768				18403135	Standard	NM_020840		Approved	KIAA1450, FNIPL, MAPO1	uc003iqe.4	Q9P278	OTTHUMG00000161983	ENST00000264433.6:c.1348C>G	4.37:g.159782811C>G	ENSP00000264433:p.Pro450Ala						p.P450A	NM_020840	NP_065891	Q9P278	FNIP2_HUMAN		COAD - Colon adenocarcinoma(41;0.00936)	12	1531	+	all_hematologic(180;0.24)		450					Q05DC3|Q96I31|Q9H994	Missense_Mutation	SNP	ENST00000264433.6	37	c.1348C>G	CCDS47155.1	.	.	.	.	.	.	.	.	.	.	C	25.1	4.605835	0.87157	.	.	ENSG00000052795	ENST00000264433;ENST00000512986;ENST00000379346	T;T;T	0.27402	1.67;1.67;1.67	5.57	5.57	0.84162	.	.	.	.	.	T	0.45856	0.1363	L	0.31664	0.95	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.20538	-1.0272	8	.	.	.	.	19.5542	0.95335	0.0:1.0:0.0:0.0	.	450	Q9P278	FNIP2_HUMAN	A	450;473;473	ENSP00000264433:P450A;ENSP00000421488:P473A;ENSP00000368651:P473A	.	P	+	1	0	FNIP2	160002261	1.000000	0.71417	0.411000	0.26484	0.985000	0.73830	7.770000	0.85390	2.636000	0.89361	0.467000	0.42956	CCA		PASS	0.473	FNIP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366602.1	NM_020840		51	155	51	155	---	---	---	---
CCDC110	256309	broad.mit.edu	37	4	186380094	186380094	+	Missense_Mutation	SNP	C	C	A	rs17853848		TCGA-22-4595-01A-01D-1267-08	TCGA-22-4595-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7fcf5123-2d1b-4666-9d39-a1aaf63cf954	850e8a4d-e0f6-4bd6-80f5-1c20e2b0e4f9	g.chr4:186380094C>A	ENST00000307588.3	-	6	1722	c.1647G>T	c.(1645-1647)aaG>aaT	p.K549N	CCDC110_ENST00000507501.1_5'Flank|CCDC110_ENST00000510617.1_Missense_Mutation_p.K549N|CCDC110_ENST00000393540.3_Missense_Mutation_p.K512N	NM_152775.3	NP_689988.1	Q8TBZ0	CC110_HUMAN	coiled-coil domain containing 110	549						nucleus (GO:0005634)		p.K549N(1)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(8)|lung(9)	30		all_lung(41;1.3e-11)|Lung NSC(41;2.25e-11)|Melanoma(20;7.86e-05)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|Colorectal(36;0.0381)|all_hematologic(60;0.0749)		OV - Ovarian serous cystadenocarcinoma(60;1.13e-10)|BRCA - Breast invasive adenocarcinoma(30;8.01e-05)|GBM - Glioblastoma multiforme(59;0.00014)|STAD - Stomach adenocarcinoma(60;0.000777)|LUSC - Lung squamous cell carcinoma(40;0.00921)|COAD - Colon adenocarcinoma(29;0.0105)|READ - Rectum adenocarcinoma(43;0.164)		TTTTGTGTTCCTTACTTTTTA	0.303																																						uc003ixu.3																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1						c.(1645-1647)AAG>AAT		coiled-coil domain containing 110 isoform a							123.0	115.0	117.0					4																	186380094		2203	4295	6498	SO:0001583	missense	256309					nucleus		g.chr4:186380094C>A	AB080722	CCDS3843.1, CCDS47170.1	4q35.1	2010-12-24			ENSG00000168491	ENSG00000168491			28504	protein-coding gene	gene with protein product	"""cancer/testis antigen 52"""	609488				18160854	Standard	NM_152775		Approved	KM-HN-1, MGC33607, CT52	uc003ixu.4	Q8TBZ0	OTTHUMG00000160415	ENST00000307588.3:c.1647G>T	4.37:g.186380094C>A	ENSP00000306776:p.Lys549Asn					CCDC110_uc003ixv.3_Missense_Mutation_p.K512N|CCDC110_uc011ckt.1_Missense_Mutation_p.K549N	p.K549N	NM_152775	NP_689988	Q8TBZ0	CC110_HUMAN		OV - Ovarian serous cystadenocarcinoma(60;1.13e-10)|BRCA - Breast invasive adenocarcinoma(30;8.01e-05)|GBM - Glioblastoma multiforme(59;0.00014)|STAD - Stomach adenocarcinoma(60;0.000777)|LUSC - Lung squamous cell carcinoma(40;0.00921)|COAD - Colon adenocarcinoma(29;0.0105)|READ - Rectum adenocarcinoma(43;0.164)	6	1723	-		all_lung(41;1.3e-11)|Lung NSC(41;2.25e-11)|Melanoma(20;7.86e-05)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|Colorectal(36;0.0381)|all_hematologic(60;0.0749)	549			Potential.		Q86YI9|Q8N7W0	Missense_Mutation	SNP	ENST00000307588.3	37	c.1647G>T	CCDS3843.1	.	.	.	.	.	.	.	.	.	.	C	13.64	2.298158	0.40694	.	.	ENSG00000168491	ENST00000393540;ENST00000307588;ENST00000510617	T;T;T	0.34072	1.38;1.38;1.38	5.85	-0.988	0.10245	.	0.198955	0.35040	N	0.003499	T	0.37812	0.1017	M	0.64997	1.995	0.20196	N	0.999926	D;D;D	0.55800	0.973;0.973;0.973	P;B;B	0.48030	0.564;0.44;0.44	T	0.39901	-0.9591	10	0.51188	T	0.08	-12.7633	11.2341	0.48929	0.0:0.4548:0.0:0.5452	.	549;512;549	B4DZA2;Q8TBZ0-2;Q8TBZ0	.;.;CC110_HUMAN	N	512;549;549	ENSP00000377172:K512N;ENSP00000306776:K549N;ENSP00000427246:K549N	ENSP00000306776:K549N	K	-	3	2	CCDC110	186617088	0.357000	0.24938	0.603000	0.28903	0.928000	0.56348	-0.115000	0.10741	-0.081000	0.12662	-0.136000	0.14681	AAG		PASS	0.303	CCDC110-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000360519.2	NM_152775		11	47	11	47	---	---	---	---
FRG1	2483	broad.mit.edu	37	4	190878625	190878625	+	Missense_Mutation	SNP	A	A	G	rs373840195		TCGA-22-4595-01A-01D-1267-08	TCGA-22-4595-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7fcf5123-2d1b-4666-9d39-a1aaf63cf954	850e8a4d-e0f6-4bd6-80f5-1c20e2b0e4f9	g.chr4:190878625A>G	ENST00000226798.4	+	6	727	c.505A>G	c.(505-507)Agt>Ggt	p.S169G	FRG1_ENST00000514482.1_3'UTR	NM_004477.2	NP_004468.1	Q14331	FRG1_HUMAN	FSHD region gene 1	169					mRNA splicing, via spliceosome (GO:0000398)|muscle organ development (GO:0007517)|rRNA processing (GO:0006364)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)	p.S169G(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|lung(11)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|urinary_tract(1)	32		all_cancers(14;1.44e-58)|all_epithelial(14;6.32e-41)|all_lung(41;8.13e-17)|Lung NSC(41;2.13e-16)|Breast(6;2.54e-06)|Melanoma(20;0.000263)|Hepatocellular(41;0.00213)|Renal(120;0.0183)|all_hematologic(60;0.0358)|Prostate(90;0.0421)|all_neural(102;0.147)		all cancers(3;1.73e-30)|Epithelial(3;5.85e-30)|OV - Ovarian serous cystadenocarcinoma(60;5.56e-15)|BRCA - Breast invasive adenocarcinoma(30;9.14e-06)|Lung(3;3.54e-05)|STAD - Stomach adenocarcinoma(60;8.83e-05)|LUSC - Lung squamous cell carcinoma(40;0.000198)|GBM - Glioblastoma multiforme(59;0.00892)|READ - Rectum adenocarcinoma(43;0.161)		AGAAGCAAAAAGTAAAACAGC	0.363																																						uc003izs.2																			1	Substitution - Missense(1)		lung(1)		0						c.(505-507)AGT>GGT		FSHD region gene 1							49.0	46.0	47.0					4																	190878625		2183	4281	6464	SO:0001583	missense	2483				rRNA processing	Cajal body|catalytic step 2 spliceosome|nuclear speck|nucleolus		g.chr4:190878625A>G	L76159	CCDS34121.1	4q35	2008-02-05			ENSG00000109536	ENSG00000109536			3954	protein-coding gene	gene with protein product		601278				8733123	Standard	XM_005262880		Approved	FSG1, FRG1A	uc003izs.3	Q14331	OTTHUMG00000160202	ENST00000226798.4:c.505A>G	4.37:g.190878625A>G	ENSP00000226798:p.Ser169Gly						p.S169G	NM_004477	NP_004468	Q14331	FRG1_HUMAN		all cancers(3;1.73e-30)|Epithelial(3;5.85e-30)|OV - Ovarian serous cystadenocarcinoma(60;5.56e-15)|BRCA - Breast invasive adenocarcinoma(30;9.14e-06)|Lung(3;3.54e-05)|STAD - Stomach adenocarcinoma(60;8.83e-05)|LUSC - Lung squamous cell carcinoma(40;0.000198)|GBM - Glioblastoma multiforme(59;0.00892)|READ - Rectum adenocarcinoma(43;0.161)	6	696	+		all_cancers(14;1.44e-58)|all_epithelial(14;6.32e-41)|all_lung(41;8.13e-17)|Lung NSC(41;2.13e-16)|Breast(6;2.54e-06)|Melanoma(20;0.000263)|Hepatocellular(41;0.00213)|Renal(120;0.0183)|all_hematologic(60;0.0358)|Prostate(90;0.0421)|all_neural(102;0.147)	169					A8K775	Missense_Mutation	SNP	ENST00000226798.4	37	c.505A>G	CCDS34121.1	.	.	.	.	.	.	.	.	.	.	.	21.2	4.112843	0.77210	.	.	ENSG00000109536	ENST00000226798;ENST00000524583;ENST00000531991	T;T	0.49139	1.86;0.79	4.19	4.19	0.49359	Actin cross-linking (1);	0.160510	0.64402	D	0.000002	T	0.58750	0.2144	M	0.77103	2.36	0.49915	D	0.999832	D	0.55800	0.973	P	0.53102	0.718	T	0.61426	-0.7065	10	0.39692	T	0.17	0.1847	11.5749	0.50856	1.0:0.0:0.0:0.0	.	169	Q14331	FRG1_HUMAN	G	169;41;106	ENSP00000226798:S169G;ENSP00000435943:S106G	ENSP00000226798:S169G	S	+	1	0	FRG1	191115619	1.000000	0.71417	1.000000	0.80357	0.852000	0.48524	9.044000	0.93805	1.677000	0.50941	0.373000	0.22412	AGT		PASS	0.363	FRG1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000359622.4	NM_004477		4	131	4	131	---	---	---	---
SEMA5A	9037	broad.mit.edu	37	5	9052140	9052140	+	Splice_Site	SNP	T	T	G	rs199709959		TCGA-22-4595-01A-01D-1267-08	TCGA-22-4595-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7fcf5123-2d1b-4666-9d39-a1aaf63cf954	850e8a4d-e0f6-4bd6-80f5-1c20e2b0e4f9	g.chr5:9052140T>G	ENST00000382496.5	-	20	3355	c.2690A>C	c.(2689-2691)gAg>gCg	p.E897A	MIR4636_ENST00000582271.1_RNA	NM_003966.2	NP_003957.2	Q13591	SEM5A_HUMAN	sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5A	897	TSP type-1 7. {ECO:0000255|PROSITE- ProRule:PRU00210}.				axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|blood vessel endothelial cell proliferation involved in sprouting angiogenesis (GO:0002043)|cell adhesion (GO:0007155)|cell chemotaxis (GO:0060326)|cell-cell signaling (GO:0007267)|diencephalon development (GO:0021536)|negative regulation of axon extension involved in axon guidance (GO:0048843)|negative regulation of cell adhesion (GO:0007162)|negative regulation of endothelial cell apoptotic process (GO:2000352)|nervous system development (GO:0007399)|patterning of blood vessels (GO:0001569)|positive chemotaxis (GO:0050918)|positive regulation of actin filament depolymerization (GO:0030836)|positive regulation of angiogenesis (GO:0045766)|positive regulation of axon extension involved in axon guidance (GO:0048842)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of endothelial cell chemotaxis (GO:2001028)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of protein kinase B signaling (GO:0051897)|signal clustering (GO:1990256)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	axon guidance receptor activity (GO:0008046)|chondroitin sulfate proteoglycan binding (GO:0035373)|heparan sulfate proteoglycan binding (GO:0043395)|semaphorin receptor binding (GO:0030215)|syndecan binding (GO:0045545)	p.E897A(1)		biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(13)|lung(40)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	81						CGACCAGCTCTCTGCAGAGAC	0.572																																						uc003jek.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.(2689-2691)GAG>GCG		semaphorin 5A precursor							20.0	22.0	21.0					5																	9052140		2203	4300	6503	SO:0001630	splice_region_variant	9037				cell adhesion|cell-cell signaling	integral to membrane|plasma membrane		g.chr5:9052140T>G	U52840	CCDS3875.1	5p15.2	2008-05-15			ENSG00000112902	ENSG00000112902		"""Semaphorins"""	10736	protein-coding gene	gene with protein product		609297		SEMAF		8817451, 9464278	Standard	NM_003966		Approved	semF	uc003jek.2	Q13591	OTTHUMG00000090501	ENST00000382496.5:c.2690-1A>C	5.37:g.9052140T>G							p.E897A	NM_003966	NP_003957	Q13591	SEM5A_HUMAN			20	3402	-			897			Extracellular (Potential).|TSP type-1 7.		D3DTC6|O60408|Q1RLL9	Missense_Mutation	SNP	ENST00000382496.5	37	c.2690A>C	CCDS3875.1	.	.	.	.	.	.	.	.	.	.	T	14.70	2.614770	0.46631	.	.	ENSG00000112902	ENST00000382496	T	0.18174	2.23	5.12	5.12	0.69794	.	0.102742	0.64402	D	0.000003	T	0.09024	0.0223	N	0.12182	0.205	0.52099	D	0.999945	B	0.18968	0.032	B	0.22601	0.04	T	0.27606	-1.0069	10	0.20519	T	0.43	.	7.8674	0.29545	0.0:0.0927:0.0:0.9073	.	897	Q13591	SEM5A_HUMAN	A	897	ENSP00000371936:E897A	ENSP00000371936:E897A	E	-	2	0	SEMA5A	9105140	1.000000	0.71417	1.000000	0.80357	0.843000	0.47879	4.924000	0.63418	2.055000	0.61198	0.533000	0.62120	GAG		PASS	0.572	SEMA5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206989.2		Missense_Mutation	9	33	9	33	---	---	---	---
PRDM9	56979	broad.mit.edu	37	5	23524526	23524526	+	Missense_Mutation	SNP	G	G	T	rs200386479		TCGA-22-4595-01A-01D-1267-08	TCGA-22-4595-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7fcf5123-2d1b-4666-9d39-a1aaf63cf954	850e8a4d-e0f6-4bd6-80f5-1c20e2b0e4f9	g.chr5:23524526G>T	ENST00000296682.3	+	10	1216	c.1034G>T	c.(1033-1035)cGa>cTa	p.R345L		NM_020227.2	NP_064612.2	Q9NQV7	PRDM9_HUMAN	PR domain containing 9	345	SET. {ECO:0000255|PROSITE- ProRule:PRU00190}.				meiotic gene conversion (GO:0006311)|positive regulation of meiosis I (GO:0060903)|positive regulation of reciprocal meiotic recombination (GO:0010845)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|nucleoplasm (GO:0005654)	histone methyltransferase activity (H3-K4 specific) (GO:0042800)|metal ion binding (GO:0046872)|recombination hotspot binding (GO:0010844)|sequence-specific DNA binding (GO:0043565)	p.R345L(1)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11)	172						AGAACCTGCCGAGTCATTAGG	0.552										HNSCC(3;0.000094)																												uc003jgo.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|large_intestine(2)|pancreas(1)	6						c.(1033-1035)CGA>CTA		PR domain containing 9							72.0	75.0	74.0					5																	23524526		1905	4110	6015	SO:0001583	missense	56979				meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleoplasm	histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding	g.chr5:23524526G>T	AF275816	CCDS43307.1	5p14.2	2014-06-03			ENSG00000164256	ENSG00000164256		"""-"", ""Zinc fingers, C2H2-type"""	13994	protein-coding gene	gene with protein product	"""PR-domain containing protein 9"""	609760	"""minisatellite binding protein 3, 115kDa"", ""minisatellite binding protein 3 (115kD)"""	MSBP3		10668202, 2062643, 24634223	Standard	NM_020227		Approved	PFM6, ZNF899	uc003jgo.3	Q9NQV7	OTTHUMG00000161918	ENST00000296682.3:c.1034G>T	5.37:g.23524526G>T	ENSP00000296682:p.Arg345Leu	HNSCC(3;0.000094)					p.R345L	NM_020227	NP_064612	Q9NQV7	PRDM9_HUMAN			10	1216	+			345			SET.		B4DX22|Q27Q50	Missense_Mutation	SNP	ENST00000296682.3	37	c.1034G>T	CCDS43307.1	.	.	.	.	.	.	.	.	.	.	G	14.85	2.657132	0.47467	.	.	ENSG00000164256	ENST00000296682;ENST00000253473	D	0.91295	-2.82	4.23	1.13	0.20643	SET domain (2);	.	.	.	.	D	0.93897	0.8047	M	0.89715	3.055	0.47547	D	0.999455	D	0.65815	0.995	P	0.59056	0.851	D	0.91908	0.5537	9	0.72032	D	0.01	-0.3004	6.8415	0.23965	0.3756:0.0:0.6244:0.0	.	345	Q9NQV7	PRDM9_HUMAN	L	345;139	ENSP00000296682:R345L	ENSP00000253473:R139L	R	+	2	0	PRDM9	23560283	0.967000	0.33354	0.405000	0.26409	0.812000	0.45895	3.154000	0.50693	0.297000	0.22615	-0.493000	0.04662	CGA		PASS	0.552	PRDM9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366375.1	NM_020227		32	57	32	57	---	---	---	---
CDH9	1007	broad.mit.edu	37	5	26988403	26988403	+	Missense_Mutation	SNP	G	G	A			TCGA-22-4595-01A-01D-1267-08	TCGA-22-4595-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7fcf5123-2d1b-4666-9d39-a1aaf63cf954	850e8a4d-e0f6-4bd6-80f5-1c20e2b0e4f9	g.chr5:26988403G>A	ENST00000231021.4	-	2	210	c.38C>T	c.(37-39)aCc>aTc	p.T13I		NM_016279.3	NP_057363.3	Q9ULB4	CADH9_HUMAN	cadherin 9, type 2 (T1-cadherin)	13					adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.T13I(1)		breast(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(25)|lung(80)|ovary(5)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	137						GAACATATAGGTCCAGATGAA	0.343																																					Melanoma(8;187 585 15745 40864 52829)	uc003jgs.1																			1	Substitution - Missense(1)		lung(1)	ovary(5)|skin(2)|upper_aerodigestive_tract(1)|haematopoietic_and_lymphoid_tissue(1)	9						c.(37-39)ACC>ATC		cadherin 9, type 2 preproprotein							136.0	141.0	139.0					5																	26988403		2203	4300	6503	SO:0001583	missense	1007				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:26988403G>A	AB035302	CCDS3893.1	5p14	2010-01-26			ENSG00000113100	ENSG00000113100		"""Cadherins / Major cadherins"""	1768	protein-coding gene	gene with protein product		609974				2059658	Standard	NM_016279		Approved		uc003jgs.1	Q9ULB4	OTTHUMG00000090671	ENST00000231021.4:c.38C>T	5.37:g.26988403G>A	ENSP00000231021:p.Thr13Ile					CDH9_uc010iug.2_Missense_Mutation_p.T13I	p.T13I	NM_016279	NP_057363	Q9ULB4	CADH9_HUMAN			2	207	-			13					Q3B7I5	Missense_Mutation	SNP	ENST00000231021.4	37	c.38C>T	CCDS3893.1	.	.	.	.	.	.	.	.	.	.	G	2.836	-0.241541	0.05906	.	.	ENSG00000113100	ENST00000231021;ENST00000513289;ENST00000511822	T;T;T	0.56444	0.55;0.46;2.0	5.64	2.92	0.33932	.	0.332621	0.31519	N	0.007510	T	0.32315	0.0825	N	0.22421	0.69	0.21933	N	0.999469	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.0	T	0.15549	-1.0433	9	.	.	.	.	6.4415	0.21853	0.2235:0.1325:0.644:0.0	.	13;13	E7EPN0;Q9ULB4	.;CADH9_HUMAN	I	13	ENSP00000231021:T13I;ENSP00000426239:T13I;ENSP00000422538:T13I	.	T	-	2	0	CDH9	27024160	1.000000	0.71417	0.461000	0.27105	0.194000	0.23727	1.249000	0.32839	0.338000	0.23692	0.591000	0.81541	ACC		PASS	0.343	CDH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207352.1	NM_016279		34	155	34	155	---	---	---	---
MTMR12	54545	broad.mit.edu	37	5	32233887	32233887	+	Missense_Mutation	SNP	G	G	A			TCGA-22-4595-01A-01D-1267-08	TCGA-22-4595-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7fcf5123-2d1b-4666-9d39-a1aaf63cf954	850e8a4d-e0f6-4bd6-80f5-1c20e2b0e4f9	g.chr5:32233887G>A	ENST00000382142.3	-	15	1836	c.1666C>T	c.(1666-1668)Cgc>Tgc	p.R556C	RNU6-1079P_ENST00000362861.1_RNA|MTMR12_ENST00000264934.5_Intron|MTMR12_ENST00000510216.1_5'UTR|MTMR12_ENST00000280285.5_Intron	NM_001040446.1	NP_001035536.1	Q9C0I1	MTMRC_HUMAN	myotubularin related protein 12	556	Interaction with MTM1.|Myotubularin phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00669}.					cytoplasm (GO:0005737)	phosphatase activity (GO:0016791)	p.R556C(1)		breast(3)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	34						ACTTTGAAGCGCATTCCTTTC	0.473																																						uc003jhq.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1666-1668)CGC>TGC		myotubularin related protein 12							244.0	196.0	212.0					5																	32233887		2203	4300	6503	SO:0001583	missense	54545					cytoplasm	phosphatase activity	g.chr5:32233887G>A	AB051469	CCDS34138.1, CCDS75230.1	5p15.33	2011-06-09	2005-04-07	2005-04-07	ENSG00000150712	ENSG00000150712		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"""	18191	protein-coding gene	gene with protein product		606501	"""phosphatidylinositol-3-phosphate associated protein"""	PIP3AP		11504939, 12495846	Standard	XM_005248313		Approved	3-PAP, FLJ20476, KIAA1682, 3PAP	uc003jhq.3	Q9C0I1	OTTHUMG00000161978	ENST00000382142.3:c.1666C>T	5.37:g.32233887G>A	ENSP00000371577:p.Arg556Cys					MTMR12_uc010iuk.2_Intron|MTMR12_uc010iul.2_Intron	p.R556C	NM_001040446	NP_001035536	Q9C0I1	MTMRC_HUMAN			15	1836	-			556			Myotubularin phosphatase.|Interaction with MTM1.		Q69YJ4|Q6PFW3|Q96QU2|Q9NX27	Missense_Mutation	SNP	ENST00000382142.3	37	c.1666C>T	CCDS34138.1	.	.	.	.	.	.	.	.	.	.	G	15.22	2.767432	0.49574	.	.	ENSG00000150712	ENST00000382142	D	0.94687	-3.49	5.77	5.77	0.91146	Myotubularin phosphatase domain (1);	0.818307	0.09847	U	0.748021	D	0.92417	0.7593	L	0.40543	1.245	0.80722	D	1	D	0.61697	0.99	B	0.39660	0.306	D	0.90705	0.4623	10	0.46703	T	0.11	.	19.9915	0.97366	0.0:0.0:1.0:0.0	.	556	Q9C0I1	MTMRC_HUMAN	C	556	ENSP00000371577:R556C	ENSP00000371577:R556C	R	-	1	0	MTMR12	32269644	0.992000	0.36948	0.010000	0.14722	0.427000	0.31564	7.780000	0.85658	2.723000	0.93209	0.655000	0.94253	CGC		PASS	0.473	MTMR12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366579.1	NM_019061		6	579	6	579	---	---	---	---
NIPBL	25836	broad.mit.edu	37	5	36958243	36958243	+	Missense_Mutation	SNP	G	G	T			TCGA-22-4595-01A-01D-1267-08	TCGA-22-4595-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7fcf5123-2d1b-4666-9d39-a1aaf63cf954	850e8a4d-e0f6-4bd6-80f5-1c20e2b0e4f9	g.chr5:36958243G>T	ENST00000282516.8	+	4	767	c.268G>T	c.(268-270)Ggt>Tgt	p.G90C	NIPBL_ENST00000448238.2_Missense_Mutation_p.G90C	NM_015384.4|NM_133433.3	NP_056199.2|NP_597677.2	Q6KC79	NIPBL_HUMAN	Nipped-B homolog (Drosophila)	90					brain development (GO:0007420)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to X-ray (GO:0071481)|cognition (GO:0050890)|developmental growth (GO:0048589)|ear morphogenesis (GO:0042471)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic forelimb morphogenesis (GO:0035115)|embryonic viscerocranium morphogenesis (GO:0048703)|external genitalia morphogenesis (GO:0035261)|eye morphogenesis (GO:0048592)|face morphogenesis (GO:0060325)|fat cell differentiation (GO:0045444)|forelimb morphogenesis (GO:0035136)|gall bladder development (GO:0061010)|heart morphogenesis (GO:0003007)|maintenance of mitotic sister chromatid cohesion (GO:0034088)|metanephros development (GO:0001656)|mitotic cell cycle (GO:0000278)|mitotic sister chromatid cohesion (GO:0007064)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|outflow tract morphogenesis (GO:0003151)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of ossification (GO:0045778)|regulation of developmental growth (GO:0048638)|regulation of embryonic development (GO:0045995)|regulation of hair cycle (GO:0042634)|sensory perception of sound (GO:0007605)|stem cell maintenance (GO:0019827)|uterus morphogenesis (GO:0061038)	extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SMC loading complex (GO:0032116)	chromatin binding (GO:0003682)|chromo shadow domain binding (GO:0070087)|histone deacetylase binding (GO:0042826)|protein C-terminus binding (GO:0008022)|protein N-terminus binding (GO:0047485)	p.G90C(2)		autonomic_ganglia(1)|breast(4)|endometrium(9)|kidney(22)|large_intestine(21)|liver(1)|lung(47)|ovary(7)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	128	all_lung(31;0.000447)|Hepatocellular(1;0.108)		Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)			TGACCCAGAAGGTGACATACC	0.403																																						uc003jkl.3																			2	Substitution - Missense(2)		lung(2)	ovary(4)|lung(2)|large_intestine(1)|breast(1)|kidney(1)	9						c.(268-270)GGT>TGT		delangin isoform A							106.0	97.0	100.0					5																	36958243		2203	4300	6503	SO:0001583	missense	25836				brain development|cellular protein localization|cellular response to X-ray|cognition|developmental growth|ear morphogenesis|embryonic arm morphogenesis|embryonic digestive tract morphogenesis|external genitalia morphogenesis|eye morphogenesis|face morphogenesis|gall bladder development|maintenance of mitotic sister chromatid cohesion|metanephros development|negative regulation of transcription from RNA polymerase II promoter|outflow tract morphogenesis|positive regulation of histone deacetylation|regulation of developmental growth|regulation of embryonic development|regulation of hair cycle|response to DNA damage stimulus|sensory perception of sound|uterus morphogenesis	SMC loading complex	chromo shadow domain binding|histone deacetylase binding|protein C-terminus binding|protein N-terminus binding	g.chr5:36958243G>T	AB019494	CCDS3920.1, CCDS47198.1	5p13.2	2009-08-28			ENSG00000164190	ENSG00000164190			28862	protein-coding gene	gene with protein product	"""sister chromatid cohesion 2 homolog (yeast)"""	608667				15146186, 15146185	Standard	NM_133433		Approved	IDN3, DKFZp434L1319, FLJ11203, FLJ12597, FLJ13354, FLJ13648, Scc2	uc003jkl.4	Q6KC79	OTTHUMG00000090795	ENST00000282516.8:c.268G>T	5.37:g.36958243G>T	ENSP00000282516:p.Gly90Cys					NIPBL_uc003jkk.3_Missense_Mutation_p.G90C	p.G90C	NM_133433	NP_597677	Q6KC79	NIPBL_HUMAN	Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)		4	767	+	all_lung(31;0.000447)|Hepatocellular(1;0.108)		90					Q6KCD6|Q6N080|Q6ZT92|Q7Z2E6|Q8N4M5|Q9Y6Y3|Q9Y6Y4	Missense_Mutation	SNP	ENST00000282516.8	37	c.268G>T	CCDS3920.1	.	.	.	.	.	.	.	.	.	.	G	32	5.126421	0.94429	.	.	ENSG00000164190	ENST00000282516;ENST00000448238	D;D	0.94184	-3.36;-3.37	5.84	5.84	0.93424	.	0.000000	0.85682	D	0.000000	D	0.96479	0.8851	M	0.65975	2.015	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.96247	0.9180	10	0.66056	D	0.02	.	20.1551	0.98106	0.0:0.0:1.0:0.0	.	90;90	Q6KC79;Q6KC79-2	NIPBL_HUMAN;.	C	90	ENSP00000282516:G90C;ENSP00000406266:G90C	ENSP00000282516:G90C	G	+	1	0	NIPBL	36994000	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.444000	0.97578	2.760000	0.94817	0.655000	0.94253	GGT		PASS	0.403	NIPBL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207582.1	NM_015384		44	157	44	157	---	---	---	---
MRPS30	10884	broad.mit.edu	37	5	44809368	44809368	+	Missense_Mutation	SNP	G	G	C	rs540608806		TCGA-22-4595-01A-01D-1267-08	TCGA-22-4595-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7fcf5123-2d1b-4666-9d39-a1aaf63cf954	850e8a4d-e0f6-4bd6-80f5-1c20e2b0e4f9	g.chr5:44809368G>C	ENST00000507110.1	+	1	342	c.304G>C	c.(304-306)Gcc>Ccc	p.A102P	RP11-53O19.1_ENST00000508123.1_RNA|RP11-53O19.1_ENST00000505302.1_RNA|RP11-53O19.1_ENST00000503452.1_RNA|RP11-53O19.1_ENST00000503179.1_RNA|RP11-53O19.1_ENST00000505401.1_RNA|RP11-53O19.1_ENST00000505637.1_RNA|RP11-53O19.1_ENST00000514597.1_RNA|RP11-53O19.1_ENST00000508945.1_RNA	NM_016640.3	NP_057724.2	Q9NP92	RT30_HUMAN	mitochondrial ribosomal protein S30	102			A -> V (in dbSNP:rs35601455).		apoptotic process (GO:0006915)|translation (GO:0006412)	mitochondrion (GO:0005739)|ribosome (GO:0005840)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)	p.A102P(2)		central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(2)|lung(11)|prostate(1)	20	Lung NSC(6;8.08e-07)					CGCGCTGAATGCCGACCGCTG	0.617																																						uc003joh.2																			2	Substitution - Missense(2)		lung(2)		0						c.(304-306)GCC>CCC		mitochondrial ribosomal protein S30							32.0	33.0	33.0					5																	44809368		2203	4300	6503	SO:0001583	missense	10884				apoptosis|translation	mitochondrion|ribosome	structural constituent of ribosome	g.chr5:44809368G>C	AF146192	CCDS3951.1	5q11	2012-09-13		2001-11-09	ENSG00000112996	ENSG00000112996		"""Mitochondrial ribosomal proteins / small subunits"""	8769	protein-coding gene	gene with protein product		611991		PDCD9		10640817, 11279123	Standard	NM_016640		Approved	PAP	uc003joh.3	Q9NP92	OTTHUMG00000096967	ENST00000507110.1:c.304G>C	5.37:g.44809368G>C	ENSP00000424328:p.Ala102Pro					MRPS30_uc003joi.1_5'Flank	p.A102P	NM_016640	NP_057724	Q9NP92	RT30_HUMAN			1	342	+	Lung NSC(6;8.08e-07)		102					Q96I91|Q96Q19|Q9H0P8|Q9NSF9|Q9NZ76	Missense_Mutation	SNP	ENST00000507110.1	37	c.304G>C	CCDS3951.1	.	.	.	.	.	.	.	.	.	.	G	36	5.787967	0.96945	.	.	ENSG00000112996	ENST00000507110	T	0.21543	2.0	5.25	5.25	0.73442	.	0.000000	0.85682	D	0.000000	T	0.49440	0.1557	M	0.76328	2.33	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.43702	-0.9375	10	0.54805	T	0.06	-5.0502	19.3941	0.94598	0.0:0.0:1.0:0.0	.	102	Q9NP92	RT30_HUMAN	P	102	ENSP00000424328:A102P	ENSP00000424328:A102P	A	+	1	0	MRPS30	44845125	1.000000	0.71417	0.987000	0.45799	0.901000	0.52897	6.200000	0.72118	2.885000	0.99019	0.655000	0.94253	GCC		PASS	0.617	MRPS30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214033.2	NM_016640		21	35	21	35	---	---	---	---
POC5	134359	broad.mit.edu	37	5	75008707	75008707	+	Missense_Mutation	SNP	C	C	T			TCGA-22-4595-01A-01D-1267-08	TCGA-22-4595-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7fcf5123-2d1b-4666-9d39-a1aaf63cf954	850e8a4d-e0f6-4bd6-80f5-1c20e2b0e4f9	g.chr5:75008707C>T	ENST00000428202.2	-	2	245	c.56G>A	c.(55-57)cGa>cAa	p.R19Q	POC5_ENST00000446329.2_5'Flank|POC5_ENST00000514838.2_Missense_Mutation_p.R19Q|POC5_ENST00000510798.1_5'Flank|POC5_ENST00000504862.1_5'Flank|POC5_ENST00000380475.2_5'UTR	NM_001099271.1	NP_001092741.1	Q8NA72	POC5_HUMAN	POC5 centriolar protein	19					cell cycle (GO:0007049)	centrosome (GO:0005813)|cytoplasm (GO:0005737)		p.R19Q(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(4)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						AGAACTGCCTCGACTGGAGTC	0.343																																						uc003keh.3																			1	Substitution - Missense(1)		lung(1)	lung(1)	1						c.(55-57)CGA>CAA		proteome of centriole 5 isoform 1							63.0	57.0	59.0					5																	75008707		1840	4085	5925	SO:0001583	missense	134359				cell cycle	centriole		g.chr5:75008707C>T	AK093098	CCDS47236.1, CCDS47237.1	5q13.3	2013-08-05	2013-08-05	2010-03-26	ENSG00000152359	ENSG00000152359			26658	protein-coding gene	gene with protein product			"""chromosome 5 open reading frame 37"", ""POC5 centriolar protein homolog (Chlamydomonas)"""	C5orf37		19349582	Standard	NM_152408		Approved	FLJ35779, MGC120442, MGC120443, MGC120444, hPOC5	uc003keh.4	Q8NA72	OTTHUMG00000162487	ENST00000428202.2:c.56G>A	5.37:g.75008707C>T	ENSP00000410216:p.Arg19Gln					POC5_uc010izu.2_5'Flank|POC5_uc003keg.3_5'Flank	p.R19Q	NM_001099271	NP_001092741	Q8NA72	POC5_HUMAN			2	253	-			19					B4DJG7|Q494X7|Q494X9|Q6P085	Missense_Mutation	SNP	ENST00000428202.2	37	c.56G>A	CCDS47236.1	.	.	.	.	.	.	.	.	.	.	C	0.324	-0.960045	0.02267	.	.	ENSG00000152359	ENST00000428202;ENST00000514838	T;T	0.31769	1.92;1.48	5.25	-10.5	0.00291	.	.	.	.	.	T	0.25791	0.0628	L	0.59436	1.845	0.19775	N	0.999959	B	0.11235	0.004	B	0.08055	0.003	T	0.37197	-0.9716	9	0.22706	T	0.39	3.5525	16.0696	0.80914	0.0:0.5801:0.3321:0.0879	.	19	Q8NA72	POC5_HUMAN	Q	19	ENSP00000410216:R19Q;ENSP00000420971:R19Q	ENSP00000410216:R19Q	R	-	2	0	POC5	75044463	0.000000	0.05858	0.000000	0.03702	0.094000	0.18550	-2.447000	0.01010	-3.914000	0.00092	-2.462000	0.00205	CGA		PASS	0.343	POC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369124.1	NM_152408		6	21	6	21	---	---	---	---
CMYA5	202333	broad.mit.edu	37	5	79028281	79028281	+	Silent	SNP	A	A	T			TCGA-22-4595-01A-01D-1267-08	TCGA-22-4595-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7fcf5123-2d1b-4666-9d39-a1aaf63cf954	850e8a4d-e0f6-4bd6-80f5-1c20e2b0e4f9	g.chr5:79028281A>T	ENST00000446378.2	+	2	3724	c.3693A>T	c.(3691-3693)ccA>ccT	p.P1231P		NM_153610.3	NP_705838.3	Q8N3K9	CMYA5_HUMAN	cardiomyopathy associated 5	1231					negative regulation of calcineurin-NFAT signaling cascade (GO:0070885)|negative regulation of protein phosphatase type 2B activity (GO:0032513)|regulation of skeletal muscle adaptation (GO:0014733)	costamere (GO:0043034)		p.P1231P(2)		NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1)	128		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)		CTCAGCCTCCAAATGTTCCAG	0.413																																						uc003kgc.2																			2	Substitution - coding silent(2)		lung(2)	ovary(6)|pancreas(2)|lung(1)	9						c.(3691-3693)CCA>CCT		cardiomyopathy associated 5							36.0	36.0	36.0					5																	79028281		1867	4100	5967	SO:0001819	synonymous_variant	202333					perinuclear region of cytoplasm		g.chr5:79028281A>T	AW755254, AL831986	CCDS47238.1	5q14.1	2013-02-11			ENSG00000164309	ENSG00000164309		"""Tripartite motif containing / Tripartite motif containing"", ""A-kinase anchor proteins"", ""Fibronectin type III domain containing"""	14305	protein-coding gene	gene with protein product	"""genethonin-3"", ""tripartite motif-containing 76"""	612193	"""chromosome 5 open reading frame 10"""	C5orf10		14688250	Standard	NM_153610		Approved	myospryn, SPRYD2, DKFZp451G223, TRIM76	uc003kgc.3	Q8N3K9	OTTHUMG00000162548	ENST00000446378.2:c.3693A>T	5.37:g.79028281A>T							p.P1231P	NM_153610	NP_705838	Q8N3K9	CMYA5_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)	2	3765	+		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)	1231					A0PJB7|Q05CT4|Q2NKX1|Q2T9G9|Q69YQ8|Q69YQ9|Q6P517|Q6P5U3|Q7Z4I1|Q86T34|Q86T49|Q8N3S4|Q8N3S7|Q8NAG8|Q9UK88	Silent	SNP	ENST00000446378.2	37	c.3693A>T	CCDS47238.1																																																																																				PASS	0.413	CMYA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369497.1	NM_153610		13	16	13	16	---	---	---	---
GPR98	84059	broad.mit.edu	37	5	89913642	89913642	+	Missense_Mutation	SNP	G	G	T			TCGA-22-4595-01A-01D-1267-08	TCGA-22-4595-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7fcf5123-2d1b-4666-9d39-a1aaf63cf954	850e8a4d-e0f6-4bd6-80f5-1c20e2b0e4f9	g.chr5:89913642G>T	ENST00000405460.2	+	3	325	c.229G>T	c.(229-231)Gac>Tac	p.D77Y		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	77	Calx-beta 1. {ECO:0000255}.				detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|G-protein coupled receptor signaling pathway (GO:0007186)|inner ear receptor stereocilium organization (GO:0060122)|maintenance of organ identity (GO:0048496)|nervous system development (GO:0007399)|neurological system process (GO:0050877)|neuropeptide signaling pathway (GO:0007218)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|single organismal cell-cell adhesion (GO:0016337)|visual perception (GO:0007601)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|stereocilia ankle link complex (GO:0002142)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)	p.D77Y(1)		NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		GGACGCTGGTGACTTTTTTGA	0.378																																						uc003kju.2																			1	Substitution - Missense(1)		lung(1)	ovary(11)|central_nervous_system(3)|pancreas(2)	16						c.(229-231)GAC>TAC		G protein-coupled receptor 98 precursor							112.0	104.0	106.0					5																	89913642		1937	4149	6086	SO:0001583	missense	84059				cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity	g.chr5:89913642G>T	AB014586	CCDS47246.1	5q13	2014-08-08	2006-05-26	2006-05-26	ENSG00000164199	ENSG00000164199		"""-"", ""GPCR / Class B : Orphans"""	17416	protein-coding gene	gene with protein product		602851	"""monogenic, audiogenic seizure susceptibility 1 homolog (mouse)"""	USH2C, MASS1		10976914, 14740321	Standard	NM_032119		Approved	DKFZp761P0710, KIAA0686, FEB4, VLGR1b	uc003kju.3	Q8WXG9	OTTHUMG00000162668	ENST00000405460.2:c.229G>T	5.37:g.89913642G>T	ENSP00000384582:p.Asp77Tyr					GPR98_uc003kjt.2_5'UTR	p.D77Y	NM_032119	NP_115495	Q8WXG9	GPR98_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)	3	325	+		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)	77			Extracellular (Potential).|Calx-beta 1.		O75171|Q8TF58|Q9H0X5|Q9UL61	Missense_Mutation	SNP	ENST00000405460.2	37	c.229G>T	CCDS47246.1	.	.	.	.	.	.	.	.	.	.	G	24.7	4.561925	0.86335	.	.	ENSG00000164199	ENST00000508842;ENST00000405460;ENST00000296619;ENST00000399043	T;T	0.63255	-0.03;0.03	5.56	5.56	0.83823	Na-Ca exchanger/integrin-beta4 (1);	0.000000	0.85682	D	0.000000	T	0.73361	0.3577	L	0.36672	1.1	0.80722	D	1	D	0.89917	1.0	D	0.77557	0.99	T	0.75563	-0.3274	10	0.87932	D	0	.	19.5153	0.95160	0.0:0.0:1.0:0.0	.	77	Q8WXG9	GPR98_HUMAN	Y	81;77;77;77	ENSP00000425936:D81Y;ENSP00000384582:D77Y	ENSP00000296619:D77Y	D	+	1	0	GPR98	89949398	1.000000	0.71417	0.967000	0.41034	0.820000	0.46376	8.855000	0.92236	2.599000	0.87857	0.544000	0.68410	GAC		PASS	0.378	GPR98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369993.2	NM_032119		4	15	4	15	---	---	---	---
RIOK2	55781	broad.mit.edu	37	5	96514781	96514781	+	Silent	SNP	G	G	C			TCGA-22-4595-01A-01D-1267-08	TCGA-22-4595-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7fcf5123-2d1b-4666-9d39-a1aaf63cf954	850e8a4d-e0f6-4bd6-80f5-1c20e2b0e4f9	g.chr5:96514781G>C	ENST00000283109.3	-	2	251	c.183C>G	c.(181-183)ctC>ctG	p.L61L	RNU1-73P_ENST00000383971.1_RNA|CTD-2215E18.1_ENST00000509481.1_Intron|RIOK2_ENST00000508447.1_Silent_p.L61L	NM_018343.2	NP_060813.2	Q9BVS4	RIOK2_HUMAN	RIO kinase 2	61							ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)	p.L61L(2)		breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(9)|pancreas(1)|prostate(1)|urinary_tract(2)	23		all_cancers(142;0.000125)|all_epithelial(76;8.48e-07)|all_lung(232;0.0131)|Lung NSC(167;0.0161)|Colorectal(57;0.0676)|Ovarian(225;0.105)		COAD - Colon adenocarcinoma(37;0.0657)		CCCAAGCTATGAGTTTATGTT	0.383																																						uc003kmz.2																			2	Substitution - coding silent(2)		lung(2)	kidney(1)	1						c.(181-183)CTC>CTG		RIO kinase 2 isoform 1							97.0	95.0	95.0					5																	96514781		2203	4300	6503	SO:0001819	synonymous_variant	55781						ATP binding|protein serine/threonine kinase activity	g.chr5:96514781G>C	AK002021	CCDS4089.1, CCDS54884.1	5q14	2012-12-10	2012-12-10		ENSG00000058729	ENSG00000058729			18999	protein-coding gene	gene with protein product			"""RIO kinase 2 (yeast)"""				Standard	NM_018343		Approved	FLJ11159	uc003kmz.3	Q9BVS4	OTTHUMG00000128723	ENST00000283109.3:c.183C>G	5.37:g.96514781G>C						RIOK2_uc003kna.3_Silent_p.L61L	p.L61L	NM_018343	NP_060813	Q9BVS4	RIOK2_HUMAN		COAD - Colon adenocarcinoma(37;0.0657)	2	293	-		all_cancers(142;0.000125)|all_epithelial(76;8.48e-07)|all_lung(232;0.0131)|Lung NSC(167;0.0161)|Colorectal(57;0.0676)|Ovarian(225;0.105)	61					D6RDI3|Q9NUT0	Silent	SNP	ENST00000283109.3	37	c.183C>G	CCDS4089.1																																																																																				PASS	0.383	RIOK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250628.1	NM_018343		15	51	15	51	---	---	---	---
FSTL4	23105	broad.mit.edu	37	5	132939579	132939579	+	Silent	SNP	C	C	A			TCGA-22-4595-01A-01D-1267-08	TCGA-22-4595-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7fcf5123-2d1b-4666-9d39-a1aaf63cf954	850e8a4d-e0f6-4bd6-80f5-1c20e2b0e4f9	g.chr5:132939579C>A	ENST00000265342.7	-	2	345	c.96G>T	c.(94-96)ccG>ccT	p.P32P		NM_015082.1	NP_055897.1	Q6MZW2	FSTL4_HUMAN	follistatin-like 4	32						extracellular region (GO:0005576)	calcium ion binding (GO:0005509)	p.P32P(1)		autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(8)|skin(2)|upper_aerodigestive_tract(1)	23		all_cancers(142;0.244)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			CACCCACATCCGGGCCTCTGC	0.537																																						uc003kyn.1																			1	Substitution - coding silent(1)		lung(1)	central_nervous_system(1)|skin(1)	2						c.(94-96)CCG>CCT		follistatin-like 4 precursor							77.0	84.0	81.0					5																	132939579		2203	4300	6503	SO:0001819	synonymous_variant	23105					extracellular region	calcium ion binding	g.chr5:132939579C>A	AB028984	CCDS34238.1	5q31.1	2013-01-29			ENSG00000053108	ENSG00000053108		"""EF-hand domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	21389	protein-coding gene	gene with protein product						10470851, 15527507	Standard	NM_015082		Approved	KIAA1061	uc003kyn.1	Q6MZW2	OTTHUMG00000162729	ENST00000265342.7:c.96G>T	5.37:g.132939579C>A							p.P32P	NM_015082	NP_055897	Q6MZW2	FSTL4_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		2	314	-		all_cancers(142;0.244)	32					Q8TBU0|Q9UPU1	Silent	SNP	ENST00000265342.7	37	c.96G>T	CCDS34238.1																																																																																				PASS	0.537	FSTL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370212.1	XM_048786		53	105	53	105	---	---	---	---
PDE6A	5145	broad.mit.edu	37	5	149324107	149324107	+	Missense_Mutation	SNP	C	C	T			TCGA-22-4595-01A-01D-1267-08	TCGA-22-4595-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7fcf5123-2d1b-4666-9d39-a1aaf63cf954	850e8a4d-e0f6-4bd6-80f5-1c20e2b0e4f9	g.chr5:149324107C>T	ENST00000255266.5	-	1	249	c.130G>A	c.(130-132)Gtg>Atg	p.V44M		NM_000440.2	NP_000431.2	P16499	PDE6A_HUMAN	phosphodiesterase 6A, cGMP-specific, rod, alpha	44					cytosolic calcium ion homeostasis (GO:0051480)|GMP metabolic process (GO:0046037)|phototransduction, visible light (GO:0007603)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|retina development in camera-type eye (GO:0060041)|rhodopsin mediated signaling pathway (GO:0016056)|visual perception (GO:0007601)	photoreceptor disc membrane (GO:0097381)|plasma membrane (GO:0005886)	3',5'-cyclic-GMP phosphodiesterase activity (GO:0047555)|metal ion binding (GO:0046872)	p.V44M(1)		breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(13)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)	44			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)		Caffeine(DB00201)	CTGAAGTCCACGGCAGCCTCC	0.527																																						uc003lrg.3																			1	Substitution - Missense(1)		lung(1)	ovary(1)|pancreas(1)	2						c.(130-132)GTG>ATG		phosphodiesterase 6A							54.0	52.0	53.0					5																	149324107		2203	4300	6503	SO:0001583	missense	5145				cytosolic calcium ion homeostasis|GMP metabolic process|platelet activation|signal transduction|visual perception	cytosol|plasma membrane	3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding	g.chr5:149324107C>T		CCDS4299.1	5q31.2-q34	2013-02-14			ENSG00000132915	ENSG00000132915	3.1.4.17	"""Phosphodiesterases"""	8785	protein-coding gene	gene with protein product		180071		PDEA		2155175	Standard	NM_000440		Approved	RP43	uc003lrg.4	P16499	OTTHUMG00000130047	ENST00000255266.5:c.130G>A	5.37:g.149324107C>T	ENSP00000255266:p.Val44Met						p.V44M	NM_000440	NP_000431	P16499	PDE6A_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)		1	250	-			44					Q0P638	Missense_Mutation	SNP	ENST00000255266.5	37	c.130G>A	CCDS4299.1	.	.	.	.	.	.	.	.	.	.	C	13.34	2.207657	0.39003	.	.	ENSG00000132915	ENST00000255266	T	0.63913	-0.07	5.47	5.47	0.80525	.	0.564183	0.18302	N	0.145398	T	0.63721	0.2535	M	0.74881	2.28	0.38883	D	0.956945	B	0.26318	0.146	B	0.14578	0.011	T	0.64757	-0.6332	10	0.48119	T	0.1	.	16.8098	0.85716	0.0:1.0:0.0:0.0	.	44	P16499	PDE6A_HUMAN	M	44	ENSP00000255266:V44M	ENSP00000255266:V44M	V	-	1	0	PDE6A	149304300	0.745000	0.28261	0.993000	0.49108	0.787000	0.44495	0.990000	0.29642	2.569000	0.86673	0.561000	0.74099	GTG		PASS	0.527	PDE6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252326.2			35	39	35	39	---	---	---	---
NDST1	3340	broad.mit.edu	37	5	149901021	149901021	+	Missense_Mutation	SNP	C	C	T			TCGA-22-4595-01A-01D-1267-08	TCGA-22-4595-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7fcf5123-2d1b-4666-9d39-a1aaf63cf954	850e8a4d-e0f6-4bd6-80f5-1c20e2b0e4f9	g.chr5:149901021C>T	ENST00000261797.6	+	2	707	c.205C>T	c.(205-207)Cca>Tca	p.P69S	NDST1_ENST00000523767.1_Missense_Mutation_p.P69S	NM_001543.4	NP_001534.1	P52848	NDST1_HUMAN	N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 1	69	Heparan sulfate N-deacetylase 1.				carbohydrate metabolic process (GO:0005975)|embryonic neurocranium morphogenesis (GO:0048702)|embryonic viscerocranium morphogenesis (GO:0048703)|fibroblast growth factor receptor signaling pathway (GO:0008543)|forebrain development (GO:0030900)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan metabolic process (GO:0030203)|heparan sulfate proteoglycan biosynthetic process (GO:0015012)|heparin biosynthetic process (GO:0030210)|inflammatory response (GO:0006954)|MAPK cascade (GO:0000165)|midbrain development (GO:0030901)|polysaccharide biosynthetic process (GO:0000271)|respiratory gaseous exchange (GO:0007585)|small molecule metabolic process (GO:0044281)|smoothened signaling pathway (GO:0007224)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	[heparan sulfate]-glucosamine N-sulfotransferase activity (GO:0015016)|deacetylase activity (GO:0019213)	p.P69S(1)		breast(2)|central_nervous_system(3)|endometrium(5)|kidney(1)|large_intestine(6)|lung(10)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	34		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TCGCCTGCTGCCACTCAAGCC	0.677																																						uc003lsk.3																			1	Substitution - Missense(1)		lung(1)	breast(1)|skin(1)	2						c.(205-207)CCA>TCA		N-deacetylase/N-sulfotransferase (heparan							32.0	39.0	37.0					5																	149901021		2203	4300	6503	SO:0001583	missense	3340				heparan sulfate proteoglycan biosynthetic process|inflammatory response	Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity	g.chr5:149901021C>T	U18918	CCDS34277.1, CCDS75358.1	5q33.1	2008-02-05				ENSG00000070614		"""Sulfotransferases, membrane-bound"""	7680	protein-coding gene	gene with protein product		600853		HSST		7601448, 9230113	Standard	NM_001543		Approved	NST1	uc003lsk.4	P52848		ENST00000261797.6:c.205C>T	5.37:g.149901021C>T	ENSP00000261797:p.Pro69Ser					NDST1_uc011dcj.1_Missense_Mutation_p.P69S|NDST1_uc003lsl.2_Missense_Mutation_p.P69S	p.P69S	NM_001543	NP_001534	P52848	NDST1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		2	707	+		all_hematologic(541;0.224)	69			Heparan sulfate N-deacetylase 1.|Lumenal (Potential).		Q96E57	Missense_Mutation	SNP	ENST00000261797.6	37	c.205C>T	CCDS34277.1	.	.	.	.	.	.	.	.	.	.	C	13.28	2.188999	0.38707	.	.	ENSG00000070614	ENST00000519157;ENST00000523767;ENST00000261797	T;T;T	0.46819	0.86;0.95;1.28	5.11	5.11	0.69529	.	0.000000	0.85682	D	0.000000	T	0.31104	0.0786	N	0.11560	0.145	0.80722	D	1	B;B;B	0.21071	0.051;0.019;0.037	B;B;B	0.21360	0.033;0.011;0.034	T	0.10474	-1.0628	10	0.15499	T	0.54	.	18.9189	0.92518	0.0:1.0:0.0:0.0	.	69;69;69	E7EVJ3;P52848-2;P52848	.;.;NDST1_HUMAN	S	69	ENSP00000427813:P69S;ENSP00000428604:P69S;ENSP00000261797:P69S	ENSP00000261797:P69S	P	+	1	0	NDST1	149881214	1.000000	0.71417	1.000000	0.80357	0.117000	0.20001	5.982000	0.70532	2.535000	0.85469	0.655000	0.94253	CCA		PASS	0.677	NDST1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374314.2	NM_001543		17	22	17	22	---	---	---	---
ZNF300	91975	broad.mit.edu	37	5	150276413	150276413	+	Missense_Mutation	SNP	C	C	A			TCGA-22-4595-01A-01D-1267-08	TCGA-22-4595-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7fcf5123-2d1b-4666-9d39-a1aaf63cf954	850e8a4d-e0f6-4bd6-80f5-1c20e2b0e4f9	g.chr5:150276413C>A	ENST00000274599.5	-	6	808	c.388G>T	c.(388-390)Ggt>Tgt	p.G130C	ZNF300_ENST00000446148.2_Missense_Mutation_p.G146C|ZNF300_ENST00000418587.2_Missense_Mutation_p.G94C|ZNF300_ENST00000427179.1_3'UTR|ZNF300_ENST00000394226.2_Missense_Mutation_p.G130C	NM_052860.2	NP_443092.1	Q96RE9	ZN300_HUMAN	zinc finger protein 300	130					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.G130C(1)		endometrium(4)|kidney(3)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(2)	27		Medulloblastoma(196;0.109)|all_hematologic(541;0.131)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TGACCATCACCTTGACAGACT	0.428																																						uc003lsy.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(388-390)GGT>TGT		zinc finger protein 300							109.0	105.0	106.0					5																	150276413		2202	4298	6500	SO:0001583	missense	91975				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr5:150276413C>A	AF395541	CCDS4311.2, CCDS54939.1, CCDS54940.1	5q33.1	2013-01-08			ENSG00000145908	ENSG00000145908		"""Zinc fingers, C2H2-type"", ""-"""	13091	protein-coding gene	gene with protein product		612429				14746915	Standard	NM_052860		Approved		uc021yfx.1	Q96RE9	OTTHUMG00000130076	ENST00000274599.5:c.388G>T	5.37:g.150276413C>A	ENSP00000274599:p.Gly130Cys					IRGM_uc011dcl.1_Intron	p.G130C	NM_052860	NP_443092	Q96RE9	ZN300_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		6	655	-		Medulloblastoma(196;0.109)|all_hematologic(541;0.131)	130					A8MY91|B3KU35|B4DU78|F5GWS1|Q06DQ3|Q17RP3|Q5H9N5	Missense_Mutation	SNP	ENST00000274599.5	37	c.388G>T	CCDS4311.2	.	.	.	.	.	.	.	.	.	.	C	10.38	1.334436	0.24253	.	.	ENSG00000145908	ENST00000446148;ENST00000274599;ENST00000418587;ENST00000394226	T;T;T;T	0.07327	3.22;3.22;3.2;3.23	2.71	-0.317	0.12736	.	.	.	.	.	T	0.03390	0.0098	N	0.04880	-0.145	0.09310	N	1	P	0.51653	0.947	B	0.40101	0.319	T	0.41251	-0.9519	9	0.37606	T	0.19	.	5.173	0.15120	0.0:0.504:0.0:0.496	.	130	Q96RE9	ZN300_HUMAN	C	146;130;94;130	ENSP00000397178:G146C;ENSP00000274599:G130C;ENSP00000392593:G94C;ENSP00000377773:G130C	ENSP00000274599:G130C	G	-	1	0	ZNF300	150256606	0.010000	0.17322	0.753000	0.31225	0.952000	0.60782	0.048000	0.14078	-0.092000	0.12417	0.557000	0.71058	GGT		PASS	0.428	ZNF300-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		NM_052860		106	138	106	138	---	---	---	---
CYFIP2	26999	broad.mit.edu	37	5	156819909	156819909	+	Silent	SNP	G	G	A			TCGA-22-4595-01A-01D-1267-08	TCGA-22-4595-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7fcf5123-2d1b-4666-9d39-a1aaf63cf954	850e8a4d-e0f6-4bd6-80f5-1c20e2b0e4f9	g.chr5:156819909G>A	ENST00000521420.1	+	30	3676	c.3585G>A	c.(3583-3585)ctG>ctA	p.L1195L	CYFIP2_ENST00000442283.2_3'UTR|CYFIP2_ENST00000318218.6_Silent_p.L1246L|CYFIP2_ENST00000377576.3_Silent_p.L1221L|CYFIP2_ENST00000522463.1_Silent_p.L1025L|CYFIP2_ENST00000541131.1_Silent_p.L1146L|CYFIP2_ENST00000435847.2_Silent_p.L920L|CYFIP2_ENST00000347377.6_Silent_p.L1221L					cytoplasmic FMR1 interacting protein 2									p.L1246L(2)|p.L1221L(1)		breast(1)|endometrium(12)|kidney(2)|lung(23)	38	Renal(175;0.00212)	Medulloblastoma(196;0.0306)|all_neural(177;0.0897)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			TTGCCATCCTGAACAAATACA	0.517																																						uc003lwq.2																			3	Substitution - coding silent(3)		lung(3)		0						c.(3661-3663)CTG>CTA		cytoplasmic FMR1 interacting protein 2							100.0	107.0	105.0					5																	156819909		2141	4257	6398	SO:0001819	synonymous_variant	26999				apoptosis|cell-cell adhesion	cell junction|perinuclear region of cytoplasm|synapse|synaptosome	protein binding	g.chr5:156819909G>A	AF160973	CCDS75364.1	5q34	2008-07-18				ENSG00000055163			13760	protein-coding gene	gene with protein product	"""p53 inducible protein"""	606323				11438699	Standard	NM_001037333		Approved	PIR121	uc021ygm.1	Q96F07		ENST00000521420.1:c.3585G>A	5.37:g.156819909G>A						CYFIP2_uc011ddn.1_Silent_p.L1195L|CYFIP2_uc011ddo.1_Silent_p.L1025L|CYFIP2_uc003lwr.2_Silent_p.L1221L|CYFIP2_uc003lws.2_Silent_p.L1221L|CYFIP2_uc003lwt.2_Silent_p.L1124L|CYFIP2_uc011ddp.1_Silent_p.L955L|CYFIP2_uc003lwv.2_Silent_p.L176L	p.L1221L	NM_001037333	NP_001032410	Q96F07	CYFP2_HUMAN	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)		33	3801	+	Renal(175;0.00212)	Medulloblastoma(196;0.0306)|all_neural(177;0.0897)	1246						Silent	SNP	ENST00000521420.1	37	c.3663G>A																																																																																					PASS	0.517	CYFIP2-001	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000373710.1	NM_001037332		41	162	41	162	---	---	---	---
DOCK2	1794	broad.mit.edu	37	5	169122822	169122822	+	Missense_Mutation	SNP	G	G	T			TCGA-22-4595-01A-01D-1267-08	TCGA-22-4595-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7fcf5123-2d1b-4666-9d39-a1aaf63cf954	850e8a4d-e0f6-4bd6-80f5-1c20e2b0e4f9	g.chr5:169122822G>T	ENST00000256935.8	+	10	939	c.859G>T	c.(859-861)Gac>Tac	p.D287Y		NM_004946.2	NP_004937.1	Q92608	DOCK2_HUMAN	dedicator of cytokinesis 2	287					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.D287Y(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)			TGGAAACAAAGACCTCAACAG	0.418																																						uc003maf.2																			1	Substitution - Missense(1)		lung(1)	ovary(5)|pancreas(2)	7						c.(859-861)GAC>TAC		dedicator of cytokinesis 2							93.0	99.0	97.0					5																	169122822		2203	4300	6503	SO:0001583	missense	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.chr5:169122822G>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.859G>T	5.37:g.169122822G>T	ENSP00000256935:p.Asp287Tyr					DOCK2_uc011der.1_RNA	p.D287Y	NM_004946	NP_004937	Q92608	DOCK2_HUMAN	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		10	939	+	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	287					Q2M3I0|Q96AK7	Missense_Mutation	SNP	ENST00000256935.8	37	c.859G>T	CCDS4371.1	.	.	.	.	.	.	.	.	.	.	G	27.3	4.815168	0.90790	.	.	ENSG00000134516	ENST00000256935	T	0.18338	2.22	5.98	5.98	0.97165	.	0.000000	0.85682	D	0.000000	T	0.54549	0.1865	M	0.91196	3.185	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.62348	-0.6873	10	0.87932	D	0	.	20.4581	0.99154	0.0:0.0:1.0:0.0	.	287	Q92608	DOCK2_HUMAN	Y	287	ENSP00000256935:D287Y	ENSP00000256935:D287Y	D	+	1	0	DOCK2	169055400	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	9.593000	0.98250	2.835000	0.97688	0.650000	0.86243	GAC		PASS	0.418	DOCK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252828.2	NM_004946		136	135	136	135	---	---	---	---
CDHR2	54825	broad.mit.edu	37	5	176004648	176004648	+	Missense_Mutation	SNP	C	C	A			TCGA-22-4595-01A-01D-1267-08	TCGA-22-4595-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7fcf5123-2d1b-4666-9d39-a1aaf63cf954	850e8a4d-e0f6-4bd6-80f5-1c20e2b0e4f9	g.chr5:176004648C>A	ENST00000510636.1	+	14	1635	c.1361C>A	c.(1360-1362)aCa>aAa	p.T454K	CDHR2_ENST00000506348.1_Missense_Mutation_p.T454K|CDHR2_ENST00000261944.5_Missense_Mutation_p.T454K	NM_001171976.1	NP_001165447.1	Q9BYE9	CDHR2_HUMAN	cadherin-related family member 2	454	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|negative regulation of cell growth (GO:0030308)	cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.T454K(1)		breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(8)|liver(1)|lung(23)|ovary(3)|prostate(5)|skin(4)|urinary_tract(1)	56						GTTGTGGCCACAGACTCCGTC	0.642																																						uc003mem.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(1360-1362)ACA>AAA		protocadherin LKC precursor							57.0	57.0	57.0					5																	176004648		2203	4300	6503	SO:0001583	missense	54825				homophilic cell adhesion|negative regulation of cell growth	apical plasma membrane|cell junction|integral to membrane	calcium ion binding|protein binding	g.chr5:176004648C>A	AB047004	CCDS34297.1	5q35.2	2011-07-01	2010-01-25	2010-01-25		ENSG00000074276		"""Cadherins / Cadherin-related"""	18231	protein-coding gene	gene with protein product	"""protocadherin LKC"""		"""protocadherin 24"""	PCDH24		11082270, 12117771	Standard	NM_001171976		Approved	PC-LKC, FLJ20124, FLJ20383, PCLKC	uc003mem.2	Q9BYE9		ENST00000510636.1:c.1361C>A	5.37:g.176004648C>A	ENSP00000424565:p.Thr454Lys					CDHR2_uc003men.1_Missense_Mutation_p.T454K	p.T454K	NM_017675	NP_060145	Q9BYE9	CDHR2_HUMAN			14	1427	+			454			Extracellular (Potential).|Cadherin 4.		A1L3U4|A6NC80|Q9NXP8	Missense_Mutation	SNP	ENST00000510636.1	37	c.1361C>A	CCDS34297.1	.	.	.	.	.	.	.	.	.	.	C	14.50	2.552527	0.45487	.	.	ENSG00000074276	ENST00000510636;ENST00000261944;ENST00000506348	T;T;T	0.62105	0.05;0.05;0.05	4.8	-3.8	0.04307	Cadherin (3);Cadherin-like (1);	.	.	.	.	T	0.43322	0.1242	L	0.41824	1.3	0.33107	D	0.539982	P	0.44006	0.824	B	0.38562	0.276	T	0.52555	-0.8560	9	0.39692	T	0.17	-5.1538	4.8555	0.13557	0.5745:0.162:0.1883:0.0751	.	454	Q9BYE9	CDHR2_HUMAN	K	454	ENSP00000424565:T454K;ENSP00000261944:T454K;ENSP00000421078:T454K	ENSP00000261944:T454K	T	+	2	0	CDHR2	175937254	0.002000	0.14202	0.233000	0.24025	0.031000	0.12232	-0.671000	0.05250	-0.336000	0.08438	-0.534000	0.04291	ACA		PASS	0.642	CDHR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372201.1	NM_017675		6	37	6	37	---	---	---	---
NSD1	64324	broad.mit.edu	37	5	176638319	176638319	+	Missense_Mutation	SNP	G	G	C			TCGA-22-4595-01A-01D-1267-08	TCGA-22-4595-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7fcf5123-2d1b-4666-9d39-a1aaf63cf954	850e8a4d-e0f6-4bd6-80f5-1c20e2b0e4f9	g.chr5:176638319G>C	ENST00000439151.2	+	5	2964	c.2919G>C	c.(2917-2919)caG>caC	p.Q973H	NSD1_ENST00000354179.4_Missense_Mutation_p.Q704H|NSD1_ENST00000361032.4_Missense_Mutation_p.Q870H|NSD1_ENST00000347982.4_Missense_Mutation_p.Q704H	NM_022455.4	NP_071900.2	Q96L73	NSD1_HUMAN	nuclear receptor binding SET domain protein 1	973					gastrulation with mouth forming second (GO:0001702)|histone H3-K36 methylation (GO:0010452)|histone H4-K20 methylation (GO:0034770)|histone methylation (GO:0016571)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|chromatin binding (GO:0003682)|estrogen receptor binding (GO:0030331)|histone methyltransferase activity (H3-K36 specific) (GO:0046975)|histone methyltransferase activity (H4-K20 specific) (GO:0042799)|retinoic acid receptor binding (GO:0042974)|retinoid X receptor binding (GO:0046965)|thyroid hormone receptor binding (GO:0046966)|transcription cofactor activity (GO:0003712)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)	p.Q973H(2)		NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(18)|lung(24)|ovary(2)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(3)	96	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198)	Kidney(146;0.235)		ATGGCACTCAGAACTCCGCCA	0.517			T	NUP98	AML		Sotos Syndrome		Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome	HNSCC(47;0.14)																												uc003mfr.3				Dom	yes		5	5q35	64324	T	nuclear receptor binding SET domain protein 1	yes	Sotos Syndrome	L	NUP98		AML		2	Substitution - Missense(2)		lung(2)	ovary(2)|kidney(1)	3						c.(2917-2919)CAG>CAC		nuclear receptor binding SET domain protein 1							72.0	71.0	72.0					5																	176638319		2203	4300	6503	SO:0001583	missense	64324	Beckwith-Wiedemann_syndrome|Sotos_syndrome|Weaver_syndrome	Familial Cancer Database	Weaver-Smith syndrome;Cerebral Gigantism;BWS, Exomphalos-Macroglossia-Gigantism (EMG) syndrome, Wiedemann-Beckwith syndrome, WBS	negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	androgen receptor binding|chromatin binding|estrogen receptor binding|histone methyltransferase activity (H3-K36 specific)|histone methyltransferase activity (H4-K20 specific)|ligand-dependent nuclear receptor binding|retinoid X receptor binding|thyroid hormone receptor binding|transcription corepressor activity|zinc ion binding	g.chr5:176638319G>C	AK026066	CCDS4412.1, CCDS4413.1	5q35	2014-09-17	2003-03-12		ENSG00000165671	ENSG00000165671		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	14234	protein-coding gene	gene with protein product		606681	"""Sotos syndrome"""	STO		9628876, 11896389	Standard	NM_022455		Approved	ARA267, FLJ22263, KMT3B	uc003mfr.4	Q96L73	OTTHUMG00000130846	ENST00000439151.2:c.2919G>C	5.37:g.176638319G>C	ENSP00000395929:p.Gln973His	HNSCC(47;0.14)				NSD1_uc003mft.3_Missense_Mutation_p.Q704H|NSD1_uc003mfs.1_Missense_Mutation_p.Q870H|NSD1_uc011dfx.1_Missense_Mutation_p.Q621H	p.Q973H	NM_022455	NP_071900	Q96L73	NSD1_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198)	Kidney(146;0.235)	5	3057	+	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	973					Q96PD8|Q96RN7	Missense_Mutation	SNP	ENST00000439151.2	37	c.2919G>C	CCDS4412.1	.	.	.	.	.	.	.	.	.	.	G	6.886	0.532991	0.13188	.	.	ENSG00000165671	ENST00000354179;ENST00000439151;ENST00000347982;ENST00000361032	D;D;D;D	0.93953	-3.21;-3.21;-3.21;-3.32	4.83	1.06	0.20224	.	0.220029	0.32244	N	0.006375	D	0.91841	0.7418	L	0.27053	0.805	0.18873	N	0.999983	D;D;D	0.71674	0.998;0.998;0.996	D;D;D	0.70487	0.969;0.969;0.932	D	0.84290	0.0499	9	.	.	.	.	7.8825	0.29631	0.3394:0.0:0.6606:0.0	.	704;870;973	Q96L73-2;Q96L73-3;Q96L73	.;.;NSD1_HUMAN	H	704;973;704;870	ENSP00000346111:Q704H;ENSP00000395929:Q973H;ENSP00000343209:Q704H;ENSP00000354310:Q870H	.	Q	+	3	2	NSD1	176570925	1.000000	0.71417	0.021000	0.16686	0.095000	0.18619	1.031000	0.30165	0.074000	0.16767	0.655000	0.94253	CAG		PASS	0.517	NSD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253412.2	NM_172349		62	55	62	55	---	---	---	---
SERPINB9	5272	broad.mit.edu	37	6	2895721	2895721	+	Missense_Mutation	SNP	G	G	T			TCGA-22-4595-01A-01D-1267-08	TCGA-22-4595-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7fcf5123-2d1b-4666-9d39-a1aaf63cf954	850e8a4d-e0f6-4bd6-80f5-1c20e2b0e4f9	g.chr6:2895721G>T	ENST00000380698.4	-	4	417	c.328C>A	c.(328-330)Caa>Aaa	p.Q110K		NM_004155.5	NP_004146.1	P50453	SPB9_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 9	110					cellular response to estrogen stimulus (GO:0071391)|immune response (GO:0006955)|mast cell mediated immunity (GO:0002448)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of endopeptidase activity (GO:0010951)|regulation of proteolysis (GO:0030162)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	cysteine-type endopeptidase inhibitor activity involved in apoptotic process (GO:0043027)|protease binding (GO:0002020)|serine-type endopeptidase inhibitor activity (GO:0004867)	p.Q110K(1)		breast(1)|endometrium(4)|large_intestine(3)|lung(5)|pancreas(1)|prostate(1)	15	Ovarian(93;0.0412)	all_hematologic(90;0.108)				TGGTAGAATTGAAGACAGGAT	0.403																																						uc003mug.2																			1	Substitution - Missense(1)		lung(1)		0						c.(328-330)CAA>AAA		serpin peptidase inhibitor, clade B, member 9							109.0	106.0	107.0					6																	2895721		2203	4300	6503	SO:0001583	missense	5272				anti-apoptosis|cellular response to estrogen stimulus|immune response|mast cell mediated immunity|regulation of proteolysis	cytosol|extracellular space|nucleus	caspase inhibitor activity|protease binding|serine-type endopeptidase inhibitor activity	g.chr6:2895721G>T	L40378	CCDS4478.1	6p25.2	2014-02-18	2005-08-18		ENSG00000170542	ENSG00000170542		"""Serine (or cysteine) peptidase inhibitors"""	8955	protein-coding gene	gene with protein product		601799	"""serine (or cysteine) proteinase inhibitor, clade B (ovalbumin), member 9"""	PI9		8530382, 9858835, 24172014	Standard	NM_004155		Approved	CAP3	uc003mug.4	P50453	OTTHUMG00000014131	ENST00000380698.4:c.328C>A	6.37:g.2895721G>T	ENSP00000370074:p.Gln110Lys					uc003mue.2_Intron	p.Q110K	NM_004155	NP_004146	P50453	SPB9_HUMAN			4	449	-	Ovarian(93;0.0412)	all_hematologic(90;0.108)	110					B2RBW3|Q5TD03	Missense_Mutation	SNP	ENST00000380698.4	37	c.328C>A	CCDS4478.1	.	.	.	.	.	.	.	.	.	.	G	0.176	-1.066467	0.01934	.	.	ENSG00000170542	ENST00000380698	D	0.82893	-1.66	4.27	3.32	0.38043	Serpin domain (3);	0.844144	0.10785	N	0.634382	T	0.32346	0.0826	N	0.01048	-1.04	0.09310	N	1	B	0.06786	0.001	B	0.08055	0.003	T	0.21143	-1.0254	10	0.02654	T	1	.	11.7668	0.51935	0.0:0.0:0.7738:0.2262	.	110	P50453	SPB9_HUMAN	K	110	ENSP00000370074:Q110K	ENSP00000370074:Q110K	Q	-	1	0	SERPINB9	2840720	0.002000	0.14202	0.893000	0.35052	0.644000	0.38419	1.131000	0.31406	2.381000	0.81170	0.558000	0.71614	CAA		PASS	0.403	SERPINB9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039656.1			49	177	49	177	---	---	---	---
SERPINB6	5269	broad.mit.edu	37	6	2948583	2948583	+	Missense_Mutation	SNP	C	C	A			TCGA-22-4595-01A-01D-1267-08	TCGA-22-4595-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7fcf5123-2d1b-4666-9d39-a1aaf63cf954	850e8a4d-e0f6-4bd6-80f5-1c20e2b0e4f9	g.chr6:2948583C>A	ENST00000380520.1	-	6	3074	c.1080G>T	c.(1078-1080)caG>caT	p.Q360H	SERPINB6_ENST00000335686.5_Missense_Mutation_p.Q360H|SERPINB6_ENST00000380539.1_Missense_Mutation_p.Q360H|SERPINB6_ENST00000380546.3_Missense_Mutation_p.Q360H|SERPINB6_ENST00000380524.1_Missense_Mutation_p.Q360H|SERPINB6_ENST00000380529.1_Missense_Mutation_p.Q360H			P35237	SPB6_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 6	360					negative regulation of endopeptidase activity (GO:0010951)|regulation of proteolysis (GO:0030162)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|protein complex (GO:0043234)	protease binding (GO:0002020)|serine-type endopeptidase inhibitor activity (GO:0004867)	p.Q360H(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(8)|stomach(1)|upper_aerodigestive_tract(2)	17	Ovarian(93;0.0412)	all_hematologic(90;0.0895)			Drotrecogin alfa(DB00055)	TCTTGCTGTGCTGGATGAAGA	0.612																																						uc003muk.2																			1	Substitution - Missense(1)		lung(1)		0						c.(1078-1080)CAG>CAT		serine (or cysteine) proteinase inhibitor, clade	Drotrecogin alfa(DB00055)						53.0	54.0	54.0					6																	2948583		2203	4300	6503	SO:0001583	missense	5269				regulation of proteolysis	centrosome|cytosol|protein complex	protease binding|serine-type endopeptidase inhibitor activity	g.chr6:2948583C>A	Z22658	CCDS4479.1, CCDS75386.1, CCDS75387.1	6p25.2	2014-02-18	2005-08-18		ENSG00000124570	ENSG00000124570		"""Serine (or cysteine) peptidase inhibitors"""	8950	protein-coding gene	gene with protein product	"""cytoplasmic antiproteinase"""	173321	"""serine (or cysteine) proteinase inhibitor, clade B (ovalbumin), member 6"", ""deafness, autosomal recessive 91"""	PI6, DFNB91		8415716, 9858835, 20451170, 24172014	Standard	NM_004568		Approved	PTI, CAP	uc031smo.1	P35237	OTTHUMG00000016170	ENST00000380520.1:c.1080G>T	6.37:g.2948583C>A	ENSP00000369891:p.Gln360His					SERPINB6_uc003mui.2_Missense_Mutation_p.Q243H|SERPINB6_uc003muj.2_RNA|SERPINB6_uc003mul.2_Missense_Mutation_p.Q360H|SERPINB6_uc003mum.2_Missense_Mutation_p.Q360H|SERPINB6_uc003mun.2_Missense_Mutation_p.Q360H|SERPINB6_uc003muo.2_Missense_Mutation_p.Q360H	p.Q360H	NM_004568	NP_004559	P35237	SPB6_HUMAN			6	3075	-	Ovarian(93;0.0412)	all_hematologic(90;0.0895)	360					B2RBA8|Q59F97|Q5TD06|Q7Z2Y7|Q96J44|Q9UDI7	Missense_Mutation	SNP	ENST00000380520.1	37	c.1080G>T	CCDS4479.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	14.29|14.29	2.490630|2.490630	0.44249|0.44249	.|.	.|.	ENSG00000124570|ENSG00000124570	ENST00000380524;ENST00000380520;ENST00000335686;ENST00000380529;ENST00000380539;ENST00000380546;ENST00000440670|ENST00000380500	D;D;D;D;D;D|.	0.84298|.	-1.83;-1.83;-1.83;-1.83;-1.83;-1.83|.	5.01|5.01	4.13|4.13	0.48395|0.48395	Serpin domain (3);|.	0.377450|.	0.28230|.	N|.	0.016120|.	T|T	0.30355|0.30355	0.0762|0.0762	L|L	0.46819|0.46819	1.47|1.47	0.30985|0.30985	N|N	0.722073|0.722073	B|.	0.17465|.	0.022|.	B|.	0.23852|.	0.049|.	T|T	0.14062|0.14062	-1.0486|-1.0486	10|5	0.59425|.	D|.	0.04|.	.|.	9.7128|9.7128	0.40256|0.40256	0.0:0.7743:0.1452:0.0805|0.0:0.7743:0.1452:0.0805	.|.	360|.	P35237|.	SPB6_HUMAN|.	H|I	360;360;360;360;360;360;176|165	ENSP00000369896:Q360H;ENSP00000369891:Q360H;ENSP00000338358:Q360H;ENSP00000369901:Q360H;ENSP00000369912:Q360H;ENSP00000369919:Q360H|.	ENSP00000338358:Q360H|.	Q|S	-|-	3|2	2|0	SERPINB6|SERPINB6	2893582|2893582	0.005000|0.005000	0.15991|0.15991	0.946000|0.946000	0.38457|0.38457	0.842000|0.842000	0.47809|0.47809	-0.848000|-0.848000	0.04326|0.04326	1.408000|1.408000	0.46895|0.46895	0.551000|0.551000	0.68910|0.68910	CAG|AGC		PASS	0.612	SERPINB6-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043422.1			45	163	45	163	---	---	---	---
GFOD1	54438	broad.mit.edu	37	6	13365013	13365013	+	Missense_Mutation	SNP	C	C	T	rs201398685		TCGA-22-4595-01A-01D-1267-08	TCGA-22-4595-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7fcf5123-2d1b-4666-9d39-a1aaf63cf954	850e8a4d-e0f6-4bd6-80f5-1c20e2b0e4f9	g.chr6:13365013C>T	ENST00000379287.3	-	2	1799	c.1135G>A	c.(1135-1137)Gag>Aag	p.E379K	GFOD1_ENST00000379284.1_Missense_Mutation_p.E276K	NM_018988.3	NP_061861.1	Q9NXC2	GFOD1_HUMAN	glucose-fructose oxidoreductase domain containing 1	379						extracellular region (GO:0005576)	oxidoreductase activity (GO:0016491)	p.E379K(1)		central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(6)|ovary(2)	18	Breast(50;0.0296)|Ovarian(93;0.0454)	all_hematologic(90;0.135)	Epithelial(50;0.0348)|BRCA - Breast invasive adenocarcinoma(129;0.1)|all cancers(50;0.108)			CGCATGGCCTCGCTGATCAGG	0.612																																						uc003nat.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(1135-1137)GAG>AAG		glucose-fructose oxidoreductase domain							50.0	46.0	47.0					6																	13365013		2203	4300	6503	SO:0001583	missense	54438					extracellular region	binding|oxidoreductase activity	g.chr6:13365013C>T	AK000337	CCDS4524.1, CCDS56397.1, CCDS64351.1	6p24.1-p23	2013-09-19			ENSG00000145990	ENSG00000145990			21096	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 114"""	C6orf114			Standard	NM_018988		Approved	FLJ20330, ADG-90	uc003nat.2	Q9NXC2	OTTHUMG00000014276	ENST00000379287.3:c.1135G>A	6.37:g.13365013C>T	ENSP00000368589:p.Glu379Lys					GFOD1_uc003nas.1_Missense_Mutation_p.E276K	p.E379K	NM_018988	NP_061861	Q9NXC2	GFOD1_HUMAN	Epithelial(50;0.0348)|BRCA - Breast invasive adenocarcinoma(129;0.1)|all cancers(50;0.108)		2	1800	-	Breast(50;0.0296)|Ovarian(93;0.0454)	all_hematologic(90;0.135)	379					A8E4L6|Q5T058|Q96JD4|Q9H5K2	Missense_Mutation	SNP	ENST00000379287.3	37	c.1135G>A	CCDS4524.1	.	.	.	.	.	.	.	.	.	.	C	28.1	4.889181	0.91889	.	.	ENSG00000145990	ENST00000379287;ENST00000379284	T;T	0.49720	1.38;0.77	5.22	5.22	0.72569	.	0.000000	0.85682	D	0.000000	T	0.39410	0.1077	L	0.42245	1.32	0.80722	D	1	D	0.61697	0.99	P	0.48189	0.57	T	0.27971	-1.0058	10	0.48119	T	0.1	-17.7257	17.7584	0.88456	0.0:1.0:0.0:0.0	.	379	Q9NXC2	GFOD1_HUMAN	K	379;276	ENSP00000368589:E379K;ENSP00000368586:E276K	ENSP00000368586:E276K	E	-	1	0	GFOD1	13472992	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.813000	0.86123	2.412000	0.81896	0.555000	0.69702	GAG		PASS	0.612	GFOD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039902.1	NM_018988		35	65	35	65	---	---	---	---
RNF182	221687	broad.mit.edu	37	6	13977868	13977868	+	Missense_Mutation	SNP	G	G	A			TCGA-22-4595-01A-01D-1267-08	TCGA-22-4595-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7fcf5123-2d1b-4666-9d39-a1aaf63cf954	850e8a4d-e0f6-4bd6-80f5-1c20e2b0e4f9	g.chr6:13977868G>A	ENST00000488300.1	+	3	1041	c.518G>A	c.(517-519)tGc>tAc	p.C173Y	RNF182_ENST00000544682.1_Missense_Mutation_p.C173Y|RNF182_ENST00000537663.1_Missense_Mutation_p.C173Y|RNF182_ENST00000537388.1_Missense_Mutation_p.C173Y	NM_152737.3	NP_689950.1	Q8N6D2	RN182_HUMAN	ring finger protein 182	173					protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.C173Y(1)		cervix(1)|large_intestine(7)|liver(2)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	15	Breast(50;0.00405)|Ovarian(93;0.0964)	all_hematologic(90;0.135)	Epithelial(50;0.195)			GTGTGGAACTGCACGTCCCTG	0.512																																						uc003nbe.2																			1	Substitution - Missense(1)		lung(1)	large_intestine(2)|ovary(1)	3						c.(517-519)TGC>TAC		ring finger protein 182							191.0	193.0	192.0					6																	13977868		2203	4300	6503	SO:0001583	missense	221687					cytoplasm|integral to membrane|intracellular membrane-bounded organelle	protein binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr6:13977868G>A	AK090576	CCDS4531.1	6p23	2013-01-09			ENSG00000180537	ENSG00000180537		"""RING-type (C3HC4) zinc fingers"""	28522	protein-coding gene	gene with protein product						12477932	Standard	NM_152737		Approved	MGC33993	uc003nbg.3	Q8N6D2	OTTHUMG00000014280	ENST00000488300.1:c.518G>A	6.37:g.13977868G>A	ENSP00000420465:p.Cys173Tyr					RNF182_uc003nbf.2_Missense_Mutation_p.C173Y|RNF182_uc003nbg.2_Missense_Mutation_p.C173Y	p.C173Y	NM_152737	NP_689950	Q8N6D2	RN182_HUMAN	Epithelial(50;0.195)		3	936	+	Breast(50;0.00405)|Ovarian(93;0.0964)	all_hematologic(90;0.135)	173					B2RDG2|Q8NBG3	Missense_Mutation	SNP	ENST00000488300.1	37	c.518G>A	CCDS4531.1	.	.	.	.	.	.	.	.	.	.	G	21.9	4.221091	0.79464	.	.	ENSG00000180537	ENST00000537663;ENST00000488300;ENST00000544682;ENST00000537388	D;D;D;D	0.88201	-2.35;-2.35;-2.35;-2.35	4.97	4.97	0.65823	.	0.098804	0.64402	D	0.000001	D	0.87688	0.6240	L	0.40543	1.245	0.52099	D	0.999945	D	0.59357	0.985	P	0.55055	0.767	D	0.86324	0.1694	9	.	.	.	-19.1303	18.6106	0.91284	0.0:0.0:1.0:0.0	.	173	Q8N6D2	RN182_HUMAN	Y	173	ENSP00000443228:C173Y;ENSP00000420465:C173Y;ENSP00000442021:C173Y;ENSP00000441271:C173Y	.	C	+	2	0	RNF182	14085847	1.000000	0.71417	0.991000	0.47740	0.979000	0.70002	7.469000	0.80959	2.468000	0.83385	0.563000	0.77884	TGC		PASS	0.512	RNF182-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039911.2	NM_152737		6	477	6	477	---	---	---	---
SCGN	10590	broad.mit.edu	37	6	25670275	25670275	+	Missense_Mutation	SNP	G	G	T			TCGA-22-4595-01A-01D-1267-08	TCGA-22-4595-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7fcf5123-2d1b-4666-9d39-a1aaf63cf954	850e8a4d-e0f6-4bd6-80f5-1c20e2b0e4f9	g.chr6:25670275G>T	ENST00000377961.2	+	6	610	c.442G>T	c.(442-444)Gct>Tct	p.A148S	SCGN_ENST00000334979.6_3'UTR	NM_006998.3	NP_008929.2	O76038	SEGN_HUMAN	secretagogin, EF-hand calcium binding protein	148						cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|extracellular region (GO:0005576)|membrane (GO:0016020)	calcium ion binding (GO:0005509)	p.A148S(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	24						CATTTCTGAGGCTAAACTGGA	0.463																																						uc003nfb.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|pancreas(1)	3						c.(442-444)GCT>TCT		secretagogin precursor							140.0	143.0	142.0					6																	25670275		2203	4300	6503	SO:0001583	missense	10590					extracellular region|transport vesicle membrane	calcium ion binding	g.chr6:25670275G>T	BC000336	CCDS4561.1	6p22.3-p22.1	2013-01-10			ENSG00000079689	ENSG00000079689		"""EF-hand domain containing"""	16941	protein-coding gene	gene with protein product	"""calbindin-like"""	609202				10811645	Standard	NM_006998		Approved	SECRET, DJ501N12.8, SEGN, CALBL	uc003nfb.3	O76038	OTTHUMG00000014409	ENST00000377961.2:c.442G>T	6.37:g.25670275G>T	ENSP00000367197:p.Ala148Ser					SCGN_uc010jpz.2_Missense_Mutation_p.R57S	p.A148S	NM_006998	NP_008929	O76038	SEGN_HUMAN			6	645	+			148					A8K0B2|Q5VV44|Q96QV7|Q9UJF6	Missense_Mutation	SNP	ENST00000377961.2	37	c.442G>T	CCDS4561.1	.	.	.	.	.	.	.	.	.	.	G	8.443	0.851360	0.17034	.	.	ENSG00000079689	ENST00000377961	T	0.70399	-0.48	5.6	2.49	0.30216	EF-hand-like domain (1);	0.407837	0.28659	N	0.014572	T	0.31009	0.0783	N	0.20328	0.56	0.80722	D	1	B	0.18741	0.03	B	0.17433	0.018	T	0.09662	-1.0664	10	0.14656	T	0.56	.	9.3188	0.37950	0.2735:0.0:0.7265:0.0	.	148	O76038	SEGN_HUMAN	S	148	ENSP00000367197:A148S	ENSP00000367197:A148S	A	+	1	0	SCGN	25778254	0.970000	0.33590	0.784000	0.31847	0.974000	0.67602	1.828000	0.39111	0.533000	0.28675	0.563000	0.77884	GCT		PASS	0.463	SCGN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040067.1			20	461	20	461	---	---	---	---
BTN2A3P	54718	broad.mit.edu	37	6	26423164	26423164	+	RNA	SNP	A	A	T			TCGA-22-4595-01A-01D-1267-08	TCGA-22-4595-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7fcf5123-2d1b-4666-9d39-a1aaf63cf954	850e8a4d-e0f6-4bd6-80f5-1c20e2b0e4f9	g.chr6:26423164A>T	ENST00000466808.2	+	0	83							Q96KV6	BT2A3_HUMAN	butyrophilin, subfamily 2, member A3, pseudogene							integral component of membrane (GO:0016021)		p.Q28L(1)									TGAACAGCCCAGGTCACTGTC	0.512																																						uc011dkl.1																			1	Substitution - Missense(1)		lung(1)		0						c.(82-84)CAG>CTG		RecName: Full=Butyrophilin subfamily 2 member A3; Flags: Precursor;							82.0	71.0	74.0					6																	26423164		2203	4300	6503			54718							g.chr6:26423164A>T	AL021917		6p22.1	2014-01-14	2011-09-06	2011-09-06	ENSG00000124549	ENSG00000124549		"""Butyrophilins"""	13229	pseudogene	pseudogene		613592	"""butyrophilin, subfamily 2, member A3"""	BTN2A3			Standard	NR_027795		Approved	BTN2.3	uc011dkl.1	Q96KV6	OTTHUMG00000014453		6.37:g.26423164A>T						BTN2A3_uc011dkm.1_RNA	p.Q28L							2	113	+								A6NEF4	Missense_Mutation	SNP	ENST00000466808.2	37	c.83A>T																																																																																					PASS	0.512	BTN2A3P-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000040118.4	NR_027795		76	50	76	50	---	---	---	---
ZBED9	114821	broad.mit.edu	37	6	28542544	28542544	+	Silent	SNP	A	A	T			TCGA-22-4595-01A-01D-1267-08	TCGA-22-4595-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7fcf5123-2d1b-4666-9d39-a1aaf63cf954	850e8a4d-e0f6-4bd6-80f5-1c20e2b0e4f9	g.chr6:28542544A>T	ENST00000452236.2	-	3	2555	c.1938T>A	c.(1936-1938)ctT>ctA	p.L646L	SCAND3_ENST00000530247.1_5'Flank	NM_052923.1	NP_443155.1												p.L646L(1)		NS(3)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(14)|liver(1)|lung(29)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)	71						TTTCATAGCAAAGGCTACAAG	0.408																																						uc003nlo.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(1936-1938)CTT>CTA		SCAN domain containing 3							120.0	116.0	118.0					6																	28542544		2203	4300	6503	SO:0001819	synonymous_variant	114821				DNA integration|viral reproduction	nucleus	DNA binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity	g.chr6:28542544A>T																												ENST00000452236.2:c.1938T>A	6.37:g.28542544A>T							p.L646L	NM_052923	NP_443155	Q6R2W3	SCND3_HUMAN			3	2556	-			646						Silent	SNP	ENST00000452236.2	37	c.1938T>A	CCDS34355.1																																																																																				PASS	0.408	SCAND3-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000043551.3			8	341	8	341	---	---	---	---
LY6G6C	80740	broad.mit.edu	37	6	31686934	31686934	+	Missense_Mutation	SNP	G	G	A			TCGA-22-4595-01A-01D-1267-08	TCGA-22-4595-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7fcf5123-2d1b-4666-9d39-a1aaf63cf954	850e8a4d-e0f6-4bd6-80f5-1c20e2b0e4f9	g.chr6:31686934G>A	ENST00000375819.2	-	3	482	c.317C>T	c.(316-318)cCa>cTa	p.P106L	LY6G6C_ENST00000495859.1_Missense_Mutation_p.P50L	NM_025261.2	NP_079537.1	O95867	LY66C_HUMAN	lymphocyte antigen 6 complex, locus G6C	106	UPAR/Ly6.					anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)		p.P106L(1)		NS(1)|large_intestine(1)|lung(1)|skin(1)	4						GCCCAGGGCTGGAGTGGGCCG	0.602																																						uc003nwh.2																			1	Substitution - Missense(1)		lung(1)		0						c.(316-318)CCA>CTA		lymphocyte antigen 6 complex G6C precursor							117.0	106.0	109.0					6																	31686934		2203	4300	6503	SO:0001583	missense	80740					anchored to membrane|plasma membrane		g.chr6:31686934G>A		CCDS4714.1	6p21	2008-08-29	2002-07-29	2002-08-01	ENSG00000204421	ENSG00000204421			13936	protein-coding gene	gene with protein product		610435	"""chromosome 6 open reading frame 24"""	C6orf24		10384126, 12079290	Standard	NM_025261		Approved	G6c, NG24	uc003nwh.3	O95867	OTTHUMG00000031251	ENST00000375819.2:c.317C>T	6.37:g.31686934G>A	ENSP00000364978:p.Pro106Leu					LY6G6C_uc010jtd.2_RNA	p.P106L	NM_025261	NP_079537	O95867	LY66C_HUMAN			3	371	-			106			UPAR/Ly6.		Q5SRS8|Q8IY94	Missense_Mutation	SNP	ENST00000375819.2	37	c.317C>T	CCDS4714.1	.	.	.	.	.	.	.	.	.	.	g	12.79	2.042431	0.35989	.	.	ENSG00000204421	ENST00000495859;ENST00000375819	T;T	0.64438	-0.1;-0.06	5.08	5.08	0.68730	.	0.131879	0.35040	N	0.003483	T	0.39009	0.1062	L	0.27053	0.805	0.18873	N	0.999987	P	0.40431	0.717	B	0.41813	0.367	T	0.42447	-0.9451	10	0.72032	D	0.01	-12.9885	14.0338	0.64632	0.0:0.0:1.0:0.0	.	106	O95867	LY66C_HUMAN	L	50;106	ENSP00000433207:P50L;ENSP00000364978:P106L	ENSP00000364978:P106L	P	-	2	0	LY6G6C	31794913	0.403000	0.25319	0.352000	0.25734	0.373000	0.29922	4.298000	0.59067	2.391000	0.81399	0.282000	0.19409	CCA		PASS	0.602	LY6G6C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076530.2			172	126	172	126	---	---	---	---
SKIV2L	6499	broad.mit.edu	37	6	31936519	31936519	+	Silent	SNP	C	C	T			TCGA-22-4595-01A-01D-1267-08	TCGA-22-4595-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7fcf5123-2d1b-4666-9d39-a1aaf63cf954	850e8a4d-e0f6-4bd6-80f5-1c20e2b0e4f9	g.chr6:31936519C>T	ENST00000375394.2	+	25	3239	c.3126C>T	c.(3124-3126)ttC>ttT	p.F1042F	SKIV2L_ENST00000544581.1_Silent_p.F849F|DXO_ENST00000478221.1_5'Flank	NM_006929.4	NP_008860.4	Q15477	SKIV2_HUMAN	superkiller viralicidic activity 2-like (S. cerevisiae)	1042					ATP catabolic process (GO:0006200)	nucleus (GO:0005634)|Ski complex (GO:0055087)	ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|RNA binding (GO:0003723)	p.F1042F(1)		breast(1)|central_nervous_system(1)|large_intestine(1)|ovary(1)	4						GGCTGCGCTTCCTACTGTCGG	0.607																																						uc003nyn.1																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|large_intestine(1)|breast(1)|central_nervous_system(1)	4						c.(3124-3126)TTC>TTT		superkiller viralicidic activity 2-like homolog							101.0	99.0	99.0					6																	31936519		1509	2708	4217	SO:0001819	synonymous_variant	6499					nucleus	ATP binding|ATP-dependent RNA helicase activity|protein binding|RNA binding	g.chr6:31936519C>T		CCDS4731.1	6p21	2010-02-17	2001-11-28		ENSG00000204351	ENSG00000204351			10898	protein-coding gene	gene with protein product		600478	"""superkiller viralicidic activity 2 (S. cerevisiae homolog)-like"""	SKIV2		7759100, 9799600	Standard	XM_006715168		Approved	HLP, DDX13, SKI2W, 170A	uc003nyn.1	Q15477	OTTHUMG00000031146	ENST00000375394.2:c.3126C>T	6.37:g.31936519C>T						SKIV2L_uc011dou.1_Silent_p.F884F|SKIV2L_uc011dov.1_Silent_p.F849F|STK19_uc003nyt.2_5'Flank	p.F1042F	NM_006929	NP_008860	Q15477	SKIV2_HUMAN			25	3515	+			1042					O15005|Q12902|Q15476|Q5ST66	Silent	SNP	ENST00000375394.2	37	c.3126C>T	CCDS4731.1	.	.	.	.	.	.	.	.	.	.	C	9.104	1.004950	0.19199	.	.	ENSG00000204351	ENST00000491994	.	.	.	5.11	3.3	0.37823	.	.	.	.	.	T	0.49983	0.1589	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.50136	-0.8863	4	.	.	.	-27.3356	11.4089	0.49915	0.0:0.8386:0.0:0.1614	.	.	.	.	S	41	.	.	P	+	1	0	SKIV2L	32044498	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	4.480000	0.60243	1.291000	0.44653	-0.251000	0.11542	CCT		PASS	0.607	SKIV2L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076264.3			44	147	44	147	---	---	---	---
COL11A2	1302	broad.mit.edu	37	6	33157234	33157234	+	Missense_Mutation	SNP	A	A	G			TCGA-22-4595-01A-01D-1267-08	TCGA-22-4595-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7fcf5123-2d1b-4666-9d39-a1aaf63cf954	850e8a4d-e0f6-4bd6-80f5-1c20e2b0e4f9	g.chr6:33157234A>G	ENST00000374708.4	-	2	353	c.95T>C	c.(94-96)gTg>gCg	p.V32A	COL11A2_ENST00000341947.2_Missense_Mutation_p.V32A|COL11A2_ENST00000357486.1_Missense_Mutation_p.V32A|COL11A2_ENST00000374712.1_Missense_Mutation_p.V32A|COL11A2_ENST00000374714.1_Missense_Mutation_p.V32A|COL11A2_ENST00000395194.1_Missense_Mutation_p.V32A|COL11A2_ENST00000395197.1_Missense_Mutation_p.V32A|COL11A2_ENST00000361917.1_Missense_Mutation_p.V32A|COL11A2_ENST00000374713.1_Missense_Mutation_p.V32A	NM_080681.2	NP_542412.2	P13942	COBA2_HUMAN	collagen, type XI, alpha 2	32					cartilage development (GO:0051216)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|palate development (GO:0060021)|sensory perception of sound (GO:0007605)|skeletal system development (GO:0001501)|soft palate development (GO:0060023)	collagen type XI trimer (GO:0005592)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix structural constituent conferring tensile strength (GO:0030020)|metal ion binding (GO:0046872)|protein binding, bridging (GO:0030674)	p.V32A(1)		biliary_tract(1)|breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(27)|ovary(5)|prostate(5)|skin(6)	68						GAGCACATCCACAGGGGGTGC	0.582																																					Melanoma(1;90 116 3946 5341 17093)	uc003ocx.1																			1	Substitution - Missense(1)		lung(1)	ovary(3)|skin(2)	5						c.(94-96)GTG>GCG		collagen, type XI, alpha 2 isoform 1							48.0	48.0	48.0					6																	33157234		1510	2709	4219	SO:0001583	missense	1302				cartilage development|cell adhesion|collagen fibril organization|sensory perception of sound|soft palate development	collagen type XI	extracellular matrix structural constituent conferring tensile strength|protein binding, bridging	g.chr6:33157234A>G	U32169	CCDS43452.1, CCDS54992.1	6p21.3	2013-01-16			ENSG00000204248	ENSG00000204248		"""Collagens"""	2187	protein-coding gene	gene with protein product		120290		DFNA13, DFNB53		7559422, 10581026	Standard	NM_080679		Approved	HKE5	uc003ocx.1	P13942	OTTHUMG00000031036	ENST00000374708.4:c.95T>C	6.37:g.33157234A>G	ENSP00000363840:p.Val32Ala					COL11A2_uc003ocy.1_Missense_Mutation_p.V32A|COL11A2_uc003ocz.1_Missense_Mutation_p.V32A|COL11A2_uc003oda.2_Missense_Mutation_p.V32A	p.V32A	NM_080680	NP_542411	P13942	COBA2_HUMAN			2	323	-			32			TSP N-terminal.		A6NLX2|E7ER90|Q07751|Q13271|Q13272|Q13273|Q5JP94|Q5SUI8|Q7Z6C3|Q99866|Q9UIP9	Missense_Mutation	SNP	ENST00000374708.4	37	c.95T>C	CCDS43452.1	.	.	.	.	.	.	.	.	.	.	A	14.97	2.692941	0.48202	.	.	ENSG00000204248	ENST00000374708;ENST00000341947;ENST00000357486;ENST00000374714;ENST00000374713;ENST00000395197;ENST00000374712;ENST00000361917;ENST00000457788;ENST00000395194	T;T;T;T;T;T;T;T;T;T	0.02395	4.31;4.31;4.31;4.31;4.31;4.31;4.31;4.31;4.31;4.31	4.25	4.25	0.50352	Concanavalin A-like lectin/glucanase (1);Laminin G, thrombospondin-type, N-terminal (1);	0.087235	0.45606	D	0.000352	T	0.01387	0.0045	L	0.37850	1.14	0.38647	D	0.951757	B;P;P;B	0.45044	0.38;0.663;0.849;0.127	B;B;B;B	0.40165	0.12;0.321;0.321;0.035	T	0.64542	-0.6383	10	0.40728	T	0.16	.	11.6304	0.51171	1.0:0.0:0.0:0.0	.	32;32;32;32	Q7Z6C3;P13942-8;P13942-6;P13942	.;.;.;COBA2_HUMAN	A	32	ENSP00000363840:V32A;ENSP00000339915:V32A;ENSP00000350079:V32A;ENSP00000363846:V32A;ENSP00000363845:V32A;ENSP00000378623:V32A;ENSP00000363844:V32A;ENSP00000355123:V32A;ENSP00000405520:V32A;ENSP00000378620:V32A	ENSP00000339915:V32A	V	-	2	0	COL11A2	33265212	1.000000	0.71417	1.000000	0.80357	0.928000	0.56348	4.021000	0.57196	1.907000	0.55213	0.410000	0.27636	GTG		PASS	0.582	COL11A2-001	KNOWN	not_organism_supported|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000076032.2			32	103	32	103	---	---	---	---
RGL2	5863	broad.mit.edu	37	6	33260956	33260956	+	Missense_Mutation	SNP	C	C	T			TCGA-22-4595-01A-01D-1267-08	TCGA-22-4595-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7fcf5123-2d1b-4666-9d39-a1aaf63cf954	850e8a4d-e0f6-4bd6-80f5-1c20e2b0e4f9	g.chr6:33260956C>T	ENST00000497454.1	-	16	2339	c.1844G>A	c.(1843-1845)cGc>cAc	p.R615H	RGL2_ENST00000437840.2_5'UTR|PFDN6_ENST00000463584.1_Intron	NM_001243738.1|NM_004761.4	NP_001230667.1|NP_004752.1	O15211	RGL2_HUMAN	ral guanine nucleotide dissociation stimulator-like 2	615					positive regulation of Ras GTPase activity (GO:0032320)|Ras protein signal transduction (GO:0007265)	intracellular (GO:0005622)	Ras guanyl-nucleotide exchange factor activity (GO:0005088)	p.R615H(1)		breast(2)|cervix(2)|endometrium(7)|kidney(2)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	34						GGCTGAGCGGCGGTGACCTCG	0.662																																						uc003odv.2																			1	Substitution - Missense(1)		lung(1)	skin(3)|lung(1)|breast(1)|pancreas(1)	6						c.(1843-1845)CGC>CAC		ral guanine nucleotide dissociation							52.0	60.0	58.0					6																	33260956		2203	4300	6503	SO:0001583	missense	5863				Ras protein signal transduction|regulation of small GTPase mediated signal transduction	intracellular	Ras guanyl-nucleotide exchange factor activity	g.chr6:33260956C>T		CCDS4774.1	6p21.3	2010-02-17	2004-06-11	2004-06-16	ENSG00000237441	ENSG00000237441			9769	protein-coding gene	gene with protein product		602306	"""RAB2, member RAS oncogene family-like"""	RAB2L		8976381	Standard	NM_001243738		Approved	KE1.5, HKE1.5	uc003odv.3	O15211	OTTHUMG00000031072	ENST00000497454.1:c.1844G>A	6.37:g.33260956C>T	ENSP00000420211:p.Arg615His					RGL2_uc003odu.2_Missense_Mutation_p.R175H|RGL2_uc010jur.2_Missense_Mutation_p.R175H|RGL2_uc003odw.2_Missense_Mutation_p.R533H	p.R615H	NM_004761	NP_004752	O15211	RGL2_HUMAN			16	1977	-			615					B4DG72|Q5STK0|Q9Y3F3	Missense_Mutation	SNP	ENST00000497454.1	37	c.1844G>A	CCDS4774.1	.	.	.	.	.	.	.	.	.	.	C	18.37	3.609717	0.66558	.	.	ENSG00000237441	ENST00000497454;ENST00000421215	T	0.12147	2.71	4.5	4.5	0.54988	.	0.000000	0.41823	D	0.000817	T	0.22360	0.0539	L	0.59436	1.845	0.80722	D	1	D	0.89917	1.0	D	0.71184	0.972	T	0.00549	-1.1676	10	0.72032	D	0.01	.	12.5984	0.56483	0.0:1.0:0.0:0.0	.	615	O15211	RGL2_HUMAN	H	615;479	ENSP00000420211:R615H	ENSP00000400083:R479H	R	-	2	0	RGL2	33368934	0.990000	0.36364	1.000000	0.80357	0.983000	0.72400	2.679000	0.46909	2.342000	0.79632	0.643000	0.83706	CGC		PASS	0.662	RGL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076098.2			106	86	106	86	---	---	---	---
SRPK1	6732	broad.mit.edu	37	6	35840405	35840405	+	Missense_Mutation	SNP	C	C	T			TCGA-22-4595-01A-01D-1267-08	TCGA-22-4595-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7fcf5123-2d1b-4666-9d39-a1aaf63cf954	850e8a4d-e0f6-4bd6-80f5-1c20e2b0e4f9	g.chr6:35840405C>T	ENST00000373825.2	-	8	971	c.686G>A	c.(685-687)cGg>cAg	p.R229Q	SRPK1_ENST00000373822.1_Missense_Mutation_p.R122Q|SRPK1_ENST00000373821.2_5'Flank|SRPK1_ENST00000423325.2_Missense_Mutation_p.R213Q					SRSF protein kinase 1									p.R229Q(1)		endometrium(2)|large_intestine(10)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	21						AGCCAGCCTCCGAATGTACTG	0.458																																					NSCLC(31;67 978 16289 24856 26454)	uc003olj.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(685-687)CGG>CAG		SFRS protein kinase 1							70.0	66.0	67.0					6																	35840405		1948	4157	6105	SO:0001583	missense	6732				cell differentiation|chromosome segregation|interspecies interaction between organisms|intracellular protein kinase cascade|mRNA processing|negative regulation of viral genome replication|positive regulation of viral genome replication|regulation of mRNA processing|RNA splicing	cytoplasm|nucleus	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity	g.chr6:35840405C>T	U09564	CCDS47415.1	6p21.31	2010-06-23	2010-06-23		ENSG00000096063	ENSG00000096063			11305	protein-coding gene	gene with protein product	"""SR protein kinase 1"", ""serine/arginine-rich splicing factor kinase 1"""	601939	"""SFRS protein kinase 1"""			8208298, 10198174	Standard	NM_003137		Approved	SFRSK1	uc003olj.3	Q96SB4	OTTHUMG00000014583	ENST00000373825.2:c.686G>A	6.37:g.35840405C>T	ENSP00000362931:p.Arg229Gln					SRPK1_uc011dtg.1_Missense_Mutation_p.R213Q|SRPK1_uc003olh.2_Missense_Mutation_p.R122Q|SRPK1_uc003oli.2_Missense_Mutation_p.R122Q	p.R229Q	NM_003137	NP_003128	Q96SB4	SRPK1_HUMAN			8	809	-			229			Protein kinase.			Missense_Mutation	SNP	ENST00000373825.2	37	c.686G>A	CCDS47415.1	.	.	.	.	.	.	.	.	.	.	C	19.10	3.761623	0.69763	.	.	ENSG00000096063	ENST00000373825;ENST00000361690;ENST00000423325;ENST00000373822	T;T;T;T	0.30448	1.55;1.53;1.56;1.63	5.37	5.37	0.77165	Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	.	.	.	.	T	0.26629	0.0651	L	0.31664	0.95	0.58432	D	0.999997	P;D	0.71674	0.476;0.998	B;P	0.51918	0.026;0.684	T	0.02654	-1.1128	9	0.56958	D	0.05	-1.5617	19.1073	0.93301	0.0:1.0:0.0:0.0	.	213;229	B4DS61;Q96SB4	.;SRPK1_HUMAN	Q	229;245;213;122	ENSP00000362931:R229Q;ENSP00000354674:R245Q;ENSP00000391069:R213Q;ENSP00000362928:R122Q	ENSP00000354674:R245Q	R	-	2	0	SRPK1	35948383	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.990000	0.56965	2.525000	0.85131	0.655000	0.94253	CGG		PASS	0.458	SRPK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040319.3	NM_003137		13	14	13	14	---	---	---	---
DNAH8	1769	broad.mit.edu	37	6	38819450	38819450	+	Splice_Site	SNP	G	G	T			TCGA-22-4595-01A-01D-1267-08	TCGA-22-4595-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7fcf5123-2d1b-4666-9d39-a1aaf63cf954	850e8a4d-e0f6-4bd6-80f5-1c20e2b0e4f9	g.chr6:38819450G>T	ENST00000359357.3	+	37	5069	c.4815G>T	c.(4813-4815)caG>caT	p.Q1605H	DNAH8_ENST00000449981.2_Splice_Site_p.Q1822H|DNAH8_ENST00000441566.1_Splice_Site_p.Q1605H			Q96JB1	DYH8_HUMAN	dynein, axonemal, heavy chain 8	1605					cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.Q1605H(2)		NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						ACACCATACAGGTATAATCTA	0.363																																						uc003ooe.1																			2	Substitution - Missense(2)		lung(2)	skin(8)|ovary(7)|lung(2)|large_intestine(1)|central_nervous_system(1)|kidney(1)|pancreas(1)	21						c.(4813-4815)CAG>CAT		dynein, axonemal, heavy polypeptide 8							67.0	68.0	68.0					6																	38819450		2203	4300	6503	SO:0001630	splice_region_variant	1769							g.chr6:38819450G>T	Z83806	CCDS75447.1	6p21.2	2012-04-19	2006-09-04		ENSG00000124721	ENSG00000124721		"""Axonemal dyneins"""	2952	protein-coding gene	gene with protein product		603337	"""dynein, axonemal, heavy polypeptide 8"""			9373155	Standard	NM_001206927		Approved	hdhc9	uc021yzh.1	Q96JB1	OTTHUMG00000016253	ENST00000359357.3:c.4815+1G>T	6.37:g.38819450G>T							p.Q1605H	NM_001371	NP_001362					37	5415	+								O00438|Q5JYI2|Q5T2M3|Q5T2M4|Q5TG00|Q9UEM4	Missense_Mutation	SNP	ENST00000359357.3	37	c.4815G>T		.	.	.	.	.	.	.	.	.	.	G	20.7	4.026864	0.75390	.	.	ENSG00000124721	ENST00000449981;ENST00000327475;ENST00000359357;ENST00000441566	T;T;T	0.67698	-0.28;-0.28;-0.28	5.75	3.65	0.41850	Dynein heavy chain, domain-2 (1);	0.000000	0.85682	D	0.000000	D	0.86653	0.5984	H	0.98883	4.36	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.91663	0.5344	10	0.87932	D	0	.	13.7466	0.62879	0.1458:0.0:0.8542:0.0	.	1605	Q96JB1	DYH8_HUMAN	H	1810;1810;1605;1605	ENSP00000333363:Q1810H;ENSP00000352312:Q1605H;ENSP00000402294:Q1605H	ENSP00000333363:Q1810H	Q	+	3	2	DNAH8	38927428	1.000000	0.71417	1.000000	0.80357	0.914000	0.54420	5.621000	0.67743	1.445000	0.47624	0.449000	0.29647	CAG		PASS	0.363	DNAH8-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000043574.1	NM_001206927	Missense_Mutation	25	55	25	55	---	---	---	---
KCNK5	8645	broad.mit.edu	37	6	39159251	39159251	+	Missense_Mutation	SNP	G	G	C			TCGA-22-4595-01A-01D-1267-08	TCGA-22-4595-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7fcf5123-2d1b-4666-9d39-a1aaf63cf954	850e8a4d-e0f6-4bd6-80f5-1c20e2b0e4f9	g.chr6:39159251G>C	ENST00000359534.3	-	5	1253	c.915C>G	c.(913-915)atC>atG	p.I305M		NM_003740.3	NP_003731.1	O95279	KCNK5_HUMAN	potassium channel, subfamily K, member 5	305					excretion (GO:0007588)|potassium ion transport (GO:0006813)	integral component of plasma membrane (GO:0005887)	potassium channel activity (GO:0005267)|voltage-gated ion channel activity (GO:0005244)	p.I305M(1)		central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(4)|skin(3)	19						CGATCTGCTTGATGAGGTCGT	0.627																																						uc003oon.2																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)|skin(1)	2						c.(913-915)ATC>ATG		potassium channel, subfamily K, member 5							123.0	127.0	126.0					6																	39159251		2203	4300	6503	SO:0001583	missense	8645				excretion	integral to plasma membrane	potassium channel activity|voltage-gated ion channel activity	g.chr6:39159251G>C	AF084830	CCDS4841.1	6p21	2012-03-07			ENSG00000164626	ENSG00000164626		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Two-P"""	6280	protein-coding gene	gene with protein product		603493				9812978, 16382106	Standard	XM_005249456		Approved	K2p5.1, TASK-2	uc003oon.3	O95279	OTTHUMG00000014642	ENST00000359534.3:c.915C>G	6.37:g.39159251G>C	ENSP00000352527:p.Ile305Met						p.I305M	NM_003740	NP_003731	O95279	KCNK5_HUMAN			5	1279	-			305			Cytoplasmic (Potential).		B2RAQ6|B5TJL2|Q5VV76	Missense_Mutation	SNP	ENST00000359534.3	37	c.915C>G	CCDS4841.1	.	.	.	.	.	.	.	.	.	.	G	16.06	3.015666	0.54468	.	.	ENSG00000164626	ENST00000359534	T	0.23754	1.89	5.7	4.83	0.62350	.	1.336240	0.04505	N	0.381962	T	0.27384	0.0672	L	0.36672	1.1	0.43890	D	0.996515	D	0.76494	0.999	D	0.68765	0.96	T	0.41484	-0.9506	10	0.59425	D	0.04	.	4.8316	0.13443	0.2054:0.0:0.563:0.2316	.	305	O95279	KCNK5_HUMAN	M	305	ENSP00000352527:I305M	ENSP00000352527:I305M	I	-	3	3	KCNK5	39267229	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	1.484000	0.35508	2.688000	0.91661	0.655000	0.94253	ATC		PASS	0.627	KCNK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040449.1	NM_003740		110	314	110	314	---	---	---	---
DAAM2	23500	broad.mit.edu	37	6	39846265	39846265	+	Silent	SNP	G	G	C			TCGA-22-4595-01A-01D-1267-08	TCGA-22-4595-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7fcf5123-2d1b-4666-9d39-a1aaf63cf954	850e8a4d-e0f6-4bd6-80f5-1c20e2b0e4f9	g.chr6:39846265G>C	ENST00000398904.2	+	13	1628	c.1446G>C	c.(1444-1446)acG>acC	p.T482T	DAAM2_ENST00000538976.1_Silent_p.T482T|DAAM2_ENST00000274867.4_Silent_p.T482T			Q86T65	DAAM2_HUMAN	dishevelled associated activator of morphogenesis 2	482					actin cytoskeleton organization (GO:0030036)|determination of left/right symmetry (GO:0007368)			p.T482T(1)		NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(9)|lung(18)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)	49	Ovarian(28;0.0355)|Colorectal(47;0.196)					TGATGCGGACGCTGAACAAAA	0.582																																						uc003oow.2																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|skin(1)	3						c.(1444-1446)ACG>ACC		dishevelled associated activator of							41.0	47.0	45.0					6																	39846265		2033	4192	6225	SO:0001819	synonymous_variant	23500				actin cytoskeleton organization		actin binding|Rho GTPase binding	g.chr6:39846265G>C	AB002379	CCDS54999.1, CCDS56426.1	6p21.1	2008-07-30			ENSG00000146122	ENSG00000146122			18143	protein-coding gene	gene with protein product		606627				11779461, 12632087	Standard	NM_015345		Approved	KIAA0381	uc003oow.3	Q86T65	OTTHUMG00000014653	ENST00000398904.2:c.1446G>C	6.37:g.39846265G>C						DAAM2_uc010jxc.2_Silent_p.T482T|DAAM2_uc003oox.2_Silent_p.T482T	p.T482T	NM_015345	NP_056160	Q86T65	DAAM2_HUMAN			13	1602	+	Ovarian(28;0.0355)|Colorectal(47;0.196)		482			Potential.		G5EA45|Q5T4T8|Q5T4U0|Q9NQI5|Q9Y4G0	Silent	SNP	ENST00000398904.2	37	c.1446G>C	CCDS56426.1																																																																																				PASS	0.582	DAAM2-003	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000280648.1			7	10	7	10	---	---	---	---
TFAP2D	83741	broad.mit.edu	37	6	50718971	50718971	+	Missense_Mutation	SNP	C	C	A			TCGA-22-4595-01A-01D-1267-08	TCGA-22-4595-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7fcf5123-2d1b-4666-9d39-a1aaf63cf954	850e8a4d-e0f6-4bd6-80f5-1c20e2b0e4f9	g.chr6:50718971C>A	ENST00000008391.3	+	7	1301	c.1073C>A	c.(1072-1074)cCa>cAa	p.P358Q	TFAP2D_ENST00000492804.1_3'UTR	NM_172238.3	NP_758438.2			transcription factor AP-2 delta (activating enhancer binding protein 2 delta)									p.P358Q(1)		NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(12)|lung(26)|ovary(6)|pancreas(1)|prostate(5)|stomach(1)	60	Lung NSC(77;0.0334)					GATAGATCACCACTGGGATCC	0.343																																						uc003paf.2																			1	Substitution - Missense(1)		lung(1)	ovary(6)|breast(1)	7						c.(1072-1074)CCA>CAA		transcription factor AP-2 beta-like 1							105.0	97.0	100.0					6																	50718971		2203	4299	6502	SO:0001583	missense	83741						DNA binding|sequence-specific DNA binding transcription factor activity	g.chr6:50718971C>A	AY028376	CCDS4933.1	6p12.3	2008-02-05	2004-10-26	2004-10-27		ENSG00000008197			15581	protein-coding gene	gene with protein product		610161	"""transcription factor AP-2 beta (activating enhancer-binding protein 2 beta)-like 1"""	TFAP2BL1		11733187	Standard	NM_172238		Approved		uc003paf.3	Q7Z6R9		ENST00000008391.3:c.1073C>A	6.37:g.50718971C>A	ENSP00000008391:p.Pro358Gln					TFAP2D_uc011dwt.1_RNA	p.P358Q	NM_172238	NP_758438	Q7Z6R9	AP2D_HUMAN			7	1585	+	Lung NSC(77;0.0334)		358			H-S-H (helix-span-helix), dimerization.			Missense_Mutation	SNP	ENST00000008391.3	37	c.1073C>A	CCDS4933.1	.	.	.	.	.	.	.	.	.	.	C	28.6	4.937664	0.92458	.	.	ENSG00000008197	ENST00000008391	D	0.97209	-4.29	5.48	5.48	0.80851	Transcription factor AP-2, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.98868	0.9617	M	0.93016	3.37	0.80722	D	1	D	0.71674	0.998	D	0.76575	0.988	D	0.99675	1.0997	10	0.87932	D	0	-25.7774	19.3519	0.94392	0.0:1.0:0.0:0.0	.	358	Q7Z6R9	AP2D_HUMAN	Q	358	ENSP00000008391:P358Q	ENSP00000008391:P358Q	P	+	2	0	TFAP2D	50826930	1.000000	0.71417	0.976000	0.42696	0.992000	0.81027	7.818000	0.86416	2.574000	0.86865	0.484000	0.47621	CCA		PASS	0.343	TFAP2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040881.1	NM_172238		26	107	26	107	---	---	---	---
RIMS1	22999	broad.mit.edu	37	6	73100434	73100435	+	Missense_Mutation	DNP	GG	GG	TT			TCGA-22-4595-01A-01D-1267-08	TCGA-22-4595-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7fcf5123-2d1b-4666-9d39-a1aaf63cf954	850e8a4d-e0f6-4bd6-80f5-1c20e2b0e4f9	g.chr6:73100434_73100435GG>TT	ENST00000521978.1	+	30	4501_4502	c.4501_4502GG>TT	c.(4501-4503)GGc>TTc	p.G1501F	RIMS1_ENST00000348717.5_Missense_Mutation_p.G1284F|RIMS1_ENST00000517960.1_Missense_Mutation_p.G1284F|RIMS1_ENST00000520567.1_Missense_Mutation_p.G1151F|RIMS1_ENST00000518273.1_Missense_Mutation_p.G1180F|RIMS1_ENST00000414192.2_Missense_Mutation_p.G28F|RIMS1_ENST00000517827.1_Missense_Mutation_p.G635F|RIMS1_ENST00000425662.2_Missense_Mutation_p.G569F|RIMS1_ENST00000401910.3_Missense_Mutation_p.G821F|RIMS1_ENST00000264839.7_Missense_Mutation_p.G1350F|RIMS1_ENST00000522291.1_Missense_Mutation_p.G1100F|RIMS1_ENST00000523963.1_Missense_Mutation_p.G626F|RIMS1_ENST00000431478.2_3'UTR|RIMS1_ENST00000491071.2_Missense_Mutation_p.G1324F|RIMS1_ENST00000538414.1_Missense_Mutation_p.G307F	NM_014989.5	NP_055804.2	Q86UR5	RIMS1_HUMAN	regulating synaptic membrane exocytosis 1	1501					calcium ion-dependent exocytosis (GO:0017156)|calcium ion-dependent exocytosis of neurotransmitter (GO:0048791)|glutamate secretion (GO:0014047)|intracellular protein transport (GO:0006886)|membrane fusion (GO:0061025)|neurotransmitter secretion (GO:0007269)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of gene expression (GO:0010628)|positive regulation of inhibitory postsynaptic membrane potential (GO:0097151)|protein complex assembly (GO:0006461)|regulated secretory pathway (GO:0045055)|regulation of catalytic activity (GO:0050790)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of neurotransmitter secretion (GO:0046928)|response to stimulus (GO:0050896)|secretion (GO:0046903)|synaptic transmission (GO:0007268)|synaptic vesicle exocytosis (GO:0016079)|visual perception (GO:0007601)	cell junction (GO:0030054)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)|presynaptic membrane (GO:0042734)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|Rab GTPase binding (GO:0017137)|small GTPase regulator activity (GO:0005083)	p.G1501C(1)|p.G1501F(1)|p.G1501V(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(25)|liver(4)|lung(35)|ovary(9)|pancreas(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	102		all_epithelial(107;0.179)|all_hematologic(105;0.212)				CAGCTCTGAGGGCAAGTAAGTG	0.49																																						uc003pga.2																			3	Substitution - Missense(3)		lung(3)	ovary(7)|pancreas(2)|breast(1)	10						c.(4501-4503)GGC>TGC|c.(4501-4503)GGC>GTC		regulating synaptic membrane exocytosis 1																																				SO:0001583	missense	22999				calcium ion-dependent exocytosis|cellular membrane fusion|glutamate secretion|intracellular protein transport|protein complex assembly|regulated secretory pathway|response to stimulus|synaptic vesicle exocytosis|visual perception	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding	g.chr6:73100434G>T|g.chr6:73100435G>T	AB002338	CCDS47449.1, CCDS55029.1, CCDS55030.1, CCDS55031.1, CCDS55032.1, CCDS55033.1	6q12-q13	2008-10-16	2002-06-12	2002-06-14	ENSG00000079841	ENSG00000079841			17282	protein-coding gene	gene with protein product	"""Rab3-interacting molecule"""	606629	"""RAB3 interacting protein 2"""	RAB3IP2, CORD7		9205841, 11438518	Standard	NM_001168407		Approved	RIM, KIAA0340, RIM1	uc003pga.4	Q86UR5	OTTHUMG00000015009	Exception_encountered	6.37:g.73100434_73100435delinsTT	ENSP00000428417:p.Gly1501Phe					RIMS1_uc011dyb.1_Missense_Mutation_p.G898C|RIMS1_uc003pgc.2_Missense_Mutation_p.G950C|RIMS1_uc010kaq.2_Missense_Mutation_p.G821C|RIMS1_uc011dyc.1_Missense_Mutation_p.G626C|RIMS1_uc010kar.2_Missense_Mutation_p.G569C|RIMS1_uc011dyd.1_Missense_Mutation_p.G635C|RIMS1_uc003pgf.2_Missense_Mutation_p.G501C|RIMS1_uc003pgg.2_Missense_Mutation_p.G397C|RIMS1_uc003pgi.2_Missense_Mutation_p.G317C|RIMS1_uc003pgh.2_Missense_Mutation_p.G368C|RIMS1_uc003pgd.2_Missense_Mutation_p.G567C|RIMS1_uc003pge.2_Missense_Mutation_p.G541C|RIMS1_uc011dye.1_Missense_Mutation_p.G307C|RIMS1_uc011dyf.1_Missense_Mutation_p.G125C|RIMS1_uc011dyg.1_Missense_Mutation_p.G28C|RIMS1_uc011dyb.1_Missense_Mutation_p.G898V|RIMS1_uc003pgc.2_Missense_Mutation_p.G950V|RIMS1_uc010kaq.2_Missense_Mutation_p.G821V|RIMS1_uc011dyc.1_Missense_Mutation_p.G626V|RIMS1_uc010kar.2_Missense_Mutation_p.G569V|RIMS1_uc011dyd.1_Missense_Mutation_p.G635V|RIMS1_uc003pgf.2_Missense_Mutation_p.G501V|RIMS1_uc003pgg.2_Missense_Mutation_p.G397V|RIMS1_uc003pgi.2_Missense_Mutation_p.G317V|RIMS1_uc003pgh.2_Missense_Mutation_p.G368V|RIMS1_uc003pgd.2_Missense_Mutation_p.G567V|RIMS1_uc003pge.2_Missense_Mutation_p.G541V|RIMS1_uc011dye.1_Missense_Mutation_p.G307V|RIMS1_uc011dyf.1_Missense_Mutation_p.G125V|RIMS1_uc011dyg.1_Missense_Mutation_p.G28V	p.G1501C|p.G1501V	NM_014989	NP_055804	Q86UR5	RIMS1_HUMAN			30	4578|4579	+		all_epithelial(107;0.179)|all_hematologic(105;0.212)	1501					A7MBN6|B7Z2M0|B7Z2Q9|B7Z3S3|B7Z6S2|E7EX08|E9PCB7|E9PCZ1|E9PF48|E9PHF5|E9PHR1|O15048|Q5JY21|Q5JY25|Q5SZK1|Q8TDY9|Q8TDZ5|Q9HBA1|Q9HBA2|Q9HBA3|Q9HBA4|Q9HBA5|Q9HBA6	Missense_Mutation	SNP	ENST00000521978.1	37	c.4501G>T|c.4502G>T	CCDS47449.1																																																																																				PASS	0.490	RIMS1-011	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374968.1			16	45	16	45	---	---	---	---
C6orf165	154313	broad.mit.edu	37	6	88128111	88128111	+	Missense_Mutation	SNP	G	G	C			TCGA-22-4595-01A-01D-1267-08	TCGA-22-4595-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7fcf5123-2d1b-4666-9d39-a1aaf63cf954	850e8a4d-e0f6-4bd6-80f5-1c20e2b0e4f9	g.chr6:88128111G>C	ENST00000507897.1	+	7	900	c.817G>C	c.(817-819)Gag>Cag	p.E273Q	C6ORF165_ENST00000369562.4_Missense_Mutation_p.E273Q			Q8IYR0	CF165_HUMAN	chromosome 6 open reading frame 165	273								p.E273Q(2)		NS(1)|central_nervous_system(1)|large_intestine(5)|lung(8)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		all_cancers(76;3.93e-06)|Acute lymphoblastic leukemia(125;3.55e-10)|Prostate(29;3.51e-09)|all_hematologic(105;3.29e-06)|all_epithelial(107;0.00575)		BRCA - Breast invasive adenocarcinoma(108;0.0419)		ACGACAATATGAGGTCTTCCT	0.403																																						uc003plv.2																			2	Substitution - Missense(2)		lung(2)	central_nervous_system(1)	1						c.(817-819)GAG>CAG		hypothetical protein LOC154313 isoform 1							98.0	105.0	103.0					6																	88128111		2203	4300	6503	SO:0001583	missense	154313							g.chr6:88128111G>C	BC035083	CCDS34498.1	6q15	2012-02-07			ENSG00000213204	ENSG00000213204			21405	protein-coding gene	gene with protein product							Standard	NM_001031743		Approved	FLJ25974, dJ382I10.1	uc003plv.3	Q8IYR0	OTTHUMG00000015173	ENST00000507897.1:c.817G>C	6.37:g.88128111G>C	ENSP00000426769:p.Glu273Gln					C6orf165_uc003plw.2_Missense_Mutation_p.E85Q|C6orf165_uc010kbv.1_RNA|C6orf165_uc003plu.1_Missense_Mutation_p.E273Q	p.E273Q	NM_001031743	NP_001026913	Q8IYR0	CF165_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0419)	7	909	+		all_cancers(76;3.93e-06)|Acute lymphoblastic leukemia(125;3.55e-10)|Prostate(29;3.51e-09)|all_hematologic(105;3.29e-06)|all_epithelial(107;0.00575)	273					A8K969|E1P507|Q8N9U4	Missense_Mutation	SNP	ENST00000507897.1	37	c.817G>C	CCDS34498.1	.	.	.	.	.	.	.	.	.	.	G	23.9	4.469896	0.84533	.	.	ENSG00000213204	ENST00000369562	T	0.36157	1.27	5.16	5.16	0.70880	.	0.000000	0.85682	D	0.000000	T	0.57858	0.2082	M	0.80183	2.485	0.80722	D	1	D;D	0.89917	1.0;0.993	D;D	0.85130	0.997;0.914	T	0.61128	-0.7125	10	0.54805	T	0.06	.	18.607	0.91270	0.0:0.0:1.0:0.0	.	273;273	Q8IYR0;E1P509	CF165_HUMAN;.	Q	273	ENSP00000358575:E273Q	ENSP00000358575:E273Q	E	+	1	0	C6orf165	88184830	1.000000	0.71417	0.999000	0.59377	0.744000	0.42396	8.431000	0.90285	2.575000	0.86900	0.591000	0.81541	GAG		PASS	0.403	C6orf165-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	nonsense_mediated_decay	protein_coding	OTTHUMT00000470406.1	NM_178823		34	125	34	125	---	---	---	---
ADAT2	134637	broad.mit.edu	37	6	143755110	143755110	+	Silent	SNP	T	T	A			TCGA-22-4595-01A-01D-1267-08	TCGA-22-4595-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7fcf5123-2d1b-4666-9d39-a1aaf63cf954	850e8a4d-e0f6-4bd6-80f5-1c20e2b0e4f9	g.chr6:143755110T>A	ENST00000237283.8	-	3	224	c.210A>T	c.(208-210)cgA>cgT	p.R70R	ADAT2_ENST00000606514.1_Silent_p.R23R	NM_182503.2	NP_872309.2	Q7Z6V5	ADAT2_HUMAN	adenosine deaminase, tRNA-specific 2	70					tRNA wobble adenosine to inosine editing (GO:0002100)		tRNA-specific adenosine deaminase activity (GO:0008251)|zinc ion binding (GO:0008270)	p.R70R(1)		endometrium(2)|large_intestine(3)|lung(3)	8				OV - Ovarian serous cystadenocarcinoma(155;5.61e-06)|GBM - Glioblastoma multiforme(68;0.0115)		TTTCTGCATGTCGAGTAGCCT	0.428																																						uc003qjj.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(208-210)CGA>CGT		deaminase domain containing 1							136.0	131.0	133.0					6																	143755110		1988	4167	6155	SO:0001819	synonymous_variant	134637				tRNA processing		hydrolase activity|zinc ion binding	g.chr6:143755110T>A	BC037955	CCDS43511.1, CCDS69219.1	6q24.2	2014-01-28	2011-05-19	2007-08-16	ENSG00000189007	ENSG00000189007			21172	protein-coding gene	gene with protein product	tRNA-specific adenosine deaminase 2 homolog (S. cerevisiae)	615388	"""deaminase domain containing 1"", ""adenosine deaminase, tRNA-specific 2, TAD2 homolog (S. cerevisiae)"""	DEADC1		12457566	Standard	NM_182503		Approved	dJ20N2.1, TAD2	uc003qjj.3	Q7Z6V5	OTTHUMG00000015725	ENST00000237283.8:c.210A>T	6.37:g.143755110T>A						ADAT2_uc003qjk.1_RNA	p.R70R	NM_182503	NP_872309	Q7Z6V5	ADAT2_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;5.61e-06)|GBM - Glioblastoma multiforme(68;0.0115)	3	256	-			70					A6NL12|B3KWY3|Q7Z327|Q8IY39	Silent	SNP	ENST00000237283.8	37	c.210A>T	CCDS43511.1																																																																																				PASS	0.428	ADAT2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042517.1	XM_059727		60	103	60	103	---	---	---	---
SYNE1	23345	broad.mit.edu	37	6	152651065	152651065	+	Missense_Mutation	SNP	C	C	A			TCGA-22-4595-01A-01D-1267-08	TCGA-22-4595-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7fcf5123-2d1b-4666-9d39-a1aaf63cf954	850e8a4d-e0f6-4bd6-80f5-1c20e2b0e4f9	g.chr6:152651065C>A	ENST00000367255.5	-	78	15356	c.14755G>T	c.(14755-14757)Gac>Tac	p.D4919Y	SYNE1_ENST00000265368.4_Missense_Mutation_p.D4919Y|SYNE1_ENST00000341594.5_Missense_Mutation_p.D4666Y|SYNE1_ENST00000423061.1_Missense_Mutation_p.D4848Y|SYNE1_ENST00000448038.1_Missense_Mutation_p.D4848Y	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	4919					cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)	p.D4919Y(2)|p.D4848Y(1)		NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		TCTTGGATGTCCTGCAGGTTG	0.498										HNSCC(10;0.0054)																												uc010kiw.2																			3	Substitution - Missense(3)		lung(3)	central_nervous_system(15)|upper_aerodigestive_tract(9)|ovary(8)|skin(6)|large_intestine(5)|pancreas(2)	45						c.(14755-14757)GAC>TAC		spectrin repeat containing, nuclear envelope 1							205.0	195.0	199.0					6																	152651065		2203	4300	6503	SO:0001583	missense	23345				cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding	g.chr6:152651065C>A	AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"""myocyte nuclear envelope protein 1"", ""nuclear envelope spectrin repeat-1"""	608441	"""chromosome 6 open reading frame 98"""	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.14755G>T	6.37:g.152651065C>A	ENSP00000356224:p.Asp4919Tyr	HNSCC(10;0.0054)				SYNE1_uc003qot.3_Missense_Mutation_p.D4848Y|SYNE1_uc003qou.3_Missense_Mutation_p.D4919Y|SYNE1_uc010kiz.2_Missense_Mutation_p.D674Y	p.D4919Y	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)	78	15357	-		Ovarian(120;0.0955)	4919			Cytoplasmic (Potential).|Potential.		E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Missense_Mutation	SNP	ENST00000367255.5	37	c.14755G>T	CCDS5236.2	.	.	.	.	.	.	.	.	.	.	C	10.63	1.402900	0.25291	.	.	ENSG00000131018	ENST00000367255;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000341594	T;T;T;T;T	0.52526	0.66;0.66;0.66;0.66;0.66	6.03	5.06	0.68205	.	0.381564	0.24497	N	0.038018	T	0.26376	0.0644	L	0.36672	1.1	0.80722	D	1	P;P;P;P	0.49358	0.923;0.614;0.614;0.875	B;B;B;B	0.44133	0.442;0.116;0.116;0.309	T	0.15665	-1.0429	10	0.59425	D	0.04	.	7.0319	0.24972	0.0:0.7705:0.0:0.2295	.	4919;4919;4919;4848	Q8NF91-7;Q8NF91;E7EQI5;Q8NF91-4	.;SYNE1_HUMAN;.;.	Y	4919;4848;4919;4848;4666	ENSP00000356224:D4919Y;ENSP00000396024:D4848Y;ENSP00000265368:D4919Y;ENSP00000390975:D4848Y;ENSP00000341887:D4666Y	ENSP00000265368:D4919Y	D	-	1	0	SYNE1	152692758	1.000000	0.71417	0.998000	0.56505	0.928000	0.56348	5.083000	0.64456	2.861000	0.98227	0.655000	0.94253	GAC		PASS	0.498	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2	NM_182961		96	232	96	232	---	---	---	---
WTAP	9589	broad.mit.edu	37	6	160157288	160157288	+	Splice_Site	SNP	A	A	T			TCGA-22-4595-01A-01D-1267-08	TCGA-22-4595-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7fcf5123-2d1b-4666-9d39-a1aaf63cf954	850e8a4d-e0f6-4bd6-80f5-1c20e2b0e4f9	g.chr6:160157288A>T	ENST00000358372.4	+	2	1749		c.e2-1		WTAP_ENST00000337387.4_Splice_Site|WTAP_ENST00000494513.1_Splice_Site|SOD2_ENST00000546087.1_Intron	NM_001270531.1|NM_004906.4	NP_001257460.1|NP_004897.2	Q15007	FL2D_HUMAN	Wilms tumor 1 associated protein						cell cycle (GO:0007049)|mRNA methylation (GO:0080009)|mRNA processing (GO:0006397)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|RNA splicing (GO:0008380)	MIS complex (GO:0036396)|nuclear membrane (GO:0031965)|nuclear speck (GO:0016607)|nucleus (GO:0005634)				central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(6)|prostate(2)|skin(1)|urinary_tract(1)	18		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;1.75e-18)|BRCA - Breast invasive adenocarcinoma(81;5.93e-06)		TTTTTTTTTTAGGATTCAAGA	0.318																																						uc003qsl.2																			0					0						c.e2-2		Wilms' tumour 1-associating protein isoform 1							88.0	100.0	96.0					6																	160157288		2203	4299	6502	SO:0001630	splice_region_variant	9589				cell cycle|mRNA processing|RNA splicing	nuclear membrane|nucleolus		g.chr6:160157288A>T	AJ276706	CCDS5266.1, CCDS5267.1, CCDS75542.1	6q25-q27	2008-02-05			ENSG00000146457	ENSG00000146457			16846	protein-coding gene	gene with protein product		605442				7788527, 11001926	Standard	NM_004906		Approved	KIAA0105, MGC3925	uc003qsl.4	Q15007	OTTHUMG00000015933	ENST00000358372.4:c.-8-1A>T	6.37:g.160157288A>T						WTAP_uc010kjx.2_Splice_Site|WTAP_uc003qsk.2_Splice_Site|WTAP_uc003qsm.1_Splice_Site|WTAP_uc003qsn.2_Splice_Site		NM_004906	NP_004897	Q15007	FL2D_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;1.75e-18)|BRCA - Breast invasive adenocarcinoma(81;5.93e-06)	2	215	+		Breast(66;0.000776)|Ovarian(120;0.0303)						Q5TCL8|Q5TCL9|Q96T28|Q9BYJ7|Q9H4E2	Splice_Site	SNP	ENST00000358372.4	37	c.-7_splice	CCDS5266.1																																																																																				PASS	0.318	WTAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042905.1	NM_152857	Intron	5	239	5	239	---	---	---	---
PHF10	55274	broad.mit.edu	37	6	170115902	170115902	+	Missense_Mutation	SNP	A	A	C	rs562092150		TCGA-22-4595-01A-01D-1267-08	TCGA-22-4595-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7fcf5123-2d1b-4666-9d39-a1aaf63cf954	850e8a4d-e0f6-4bd6-80f5-1c20e2b0e4f9	g.chr6:170115902A>C	ENST00000339209.4	-	6	718	c.595T>G	c.(595-597)Tat>Gat	p.Y199D	PHF10_ENST00000464779.1_5'Flank|PHF10_ENST00000366780.4_Missense_Mutation_p.Y197D	NM_018288.3|NM_133325.2	NP_060758.2|NP_579866.2	Q8WUB8	PHF10_HUMAN	PHD finger protein 10	199	SAY.				nervous system development (GO:0007399)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	npBAF complex (GO:0071564)	zinc ion binding (GO:0008270)	p.Y111D(2)|p.Y199D(1)		endometrium(2)|large_intestine(2)|liver(3)|lung(4)|prostate(2)|urinary_tract(1)	14		Breast(66;5.08e-05)|Ovarian(120;0.208)		OV - Ovarian serous cystadenocarcinoma(33;1.4e-21)|BRCA - Breast invasive adenocarcinoma(81;1.4e-07)|GBM - Glioblastoma multiforme(31;0.00176)		TTCTTAATATACTCAGGCACT	0.353																																						uc011egy.1																			3	Substitution - Missense(3)		lung(2)|prostate(1)	urinary_tract(1)	1						c.(595-597)TAT>GAT		PHD finger protein 10 isoform a							81.0	83.0	82.0					6																	170115902		2202	4299	6501	SO:0001583	missense	55274				nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	npBAF complex	zinc ion binding	g.chr6:170115902A>C	AF338735	CCDS5308.2, CCDS5309.2	6q27	2014-05-13			ENSG00000130024	ENSG00000130024		"""Zinc fingers, PHD-type"""	18250	protein-coding gene	gene with protein product		613069				11827455	Standard	NM_018288		Approved	FLJ10975, XAP135, BAF45a	uc011egy.2	Q8WUB8	OTTHUMG00000016058	ENST00000339209.4:c.595T>G	6.37:g.170115902A>C	ENSP00000341805:p.Tyr199Asp					PHF10_uc011egz.1_Missense_Mutation_p.Y197D|PHF10_uc011eha.1_Missense_Mutation_p.Y50D	p.Y199D	NM_018288	NP_060758	Q8WUB8	PHF10_HUMAN		OV - Ovarian serous cystadenocarcinoma(33;1.4e-21)|BRCA - Breast invasive adenocarcinoma(81;1.4e-07)|GBM - Glioblastoma multiforme(31;0.00176)	6	674	-		Breast(66;5.08e-05)|Ovarian(120;0.208)	199			SAY.		Q2YDA3|Q53HG8|Q9BXD2|Q9NV26	Missense_Mutation	SNP	ENST00000339209.4	37	c.595T>G	CCDS5308.2	.	.	.	.	.	.	.	.	.	.	A	26.0	4.691335	0.88735	.	.	ENSG00000130024	ENST00000366780;ENST00000339209	T;T	0.29917	1.55;1.55	6.06	6.06	0.98353	.	0.107337	0.64402	D	0.000003	T	0.47266	0.1436	M	0.65975	2.015	0.80722	D	1	P;D;D	0.89917	0.955;1.0;0.995	P;D;P	0.85130	0.78;0.997;0.741	T	0.50759	-0.8790	10	0.87932	D	0	-18.8351	15.7905	0.78357	1.0:0.0:0.0:0.0	.	111;197;199	Q5T069;Q8WUB8-2;Q8WUB8	.;.;PHF10_HUMAN	D	197;199	ENSP00000355743:Y197D;ENSP00000341805:Y199D	ENSP00000341805:Y199D	Y	-	1	0	PHF10	169857827	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	8.676000	0.91199	2.324000	0.78689	0.533000	0.62120	TAT		PASS	0.353	PHF10-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000346732.1	NM_018288		4	125	4	125	---	---	---	---
SNX8	29886	broad.mit.edu	37	7	2297030	2297030	+	Silent	SNP	G	G	C			TCGA-22-4595-01A-01D-1267-08	TCGA-22-4595-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7fcf5123-2d1b-4666-9d39-a1aaf63cf954	850e8a4d-e0f6-4bd6-80f5-1c20e2b0e4f9	g.chr7:2297030G>C	ENST00000222990.3	-	9	1146	c.1104C>G	c.(1102-1104)tcC>tcG	p.S368S		NM_013321.2	NP_037453.1	Q9Y5X2	SNX8_HUMAN	sorting nexin 8	368					early endosome to Golgi transport (GO:0034498)|intracellular protein transport (GO:0006886)	early endosome membrane (GO:0031901)	identical protein binding (GO:0042802)|phosphatidylinositol binding (GO:0035091)	p.S368S(1)		breast(2)|endometrium(5)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|prostate(2)|skin(3)	26		Ovarian(82;0.11)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0853)|OV - Ovarian serous cystadenocarcinoma(56;3.79e-14)		GCTGCTCCACGGACTCCGGCT	0.687																																						uc003slw.2																			1	Substitution - coding silent(1)		lung(1)	large_intestine(1)|ovary(1)	2						c.(1102-1104)TCC>TCG		sorting nexin 8							44.0	42.0	43.0					7																	2297030		2201	4299	6500	SO:0001819	synonymous_variant	29886				cell communication|early endosome to Golgi transport|intracellular protein transport	early endosome membrane	phosphatidylinositol binding|protein binding	g.chr7:2297030G>C	AF121858	CCDS5331.1	7p22.3	2010-08-05			ENSG00000106266	ENSG00000106266		"""Sorting nexins"""	14972	protein-coding gene	gene with protein product		614905					Standard	NM_013321		Approved	Mvp1	uc003slw.3	Q9Y5X2	OTTHUMG00000151512	ENST00000222990.3:c.1104C>G	7.37:g.2297030G>C							p.S368S	NM_013321	NP_037453	Q9Y5X2	SNX8_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0853)|OV - Ovarian serous cystadenocarcinoma(56;3.79e-14)	9	1147	-		Ovarian(82;0.11)	368					A4D207|Q96I67	Silent	SNP	ENST00000222990.3	37	c.1104C>G	CCDS5331.1																																																																																				PASS	0.687	SNX8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322949.2			9	33	9	33	---	---	---	---
AMZ1	155185	broad.mit.edu	37	7	2751971	2751971	+	Missense_Mutation	SNP	A	A	C			TCGA-22-4595-01A-01D-1267-08	TCGA-22-4595-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7fcf5123-2d1b-4666-9d39-a1aaf63cf954	850e8a4d-e0f6-4bd6-80f5-1c20e2b0e4f9	g.chr7:2751971A>C	ENST00000312371.4	+	7	1324	c.956A>C	c.(955-957)tAc>tCc	p.Y319S	AMZ1_ENST00000489665.1_Intron|AMZ1_ENST00000407112.1_Silent_p.L262L	NM_133463.1	NP_597720.1	Q400G9	AMZ1_HUMAN	archaelysin family metallopeptidase 1	319							metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.Y319S(1)		breast(2)|kidney(1)|large_intestine(4)|lung(8)|skin(1)	16		Ovarian(82;0.0779)		OV - Ovarian serous cystadenocarcinoma(56;5.03e-14)		TAGAGACTCTACACCTGGACT	0.652																																						uc003smr.1																			1	Substitution - Missense(1)		lung(1)		0						c.(955-957)TAC>TCC		archaelysin family metallopeptidase 1							32.0	38.0	36.0					7																	2751971		2202	4300	6502	SO:0001583	missense	155185						metallopeptidase activity|zinc ion binding	g.chr7:2751971A>C	AB075830	CCDS34589.1, CCDS64582.1	7p22.3	2008-01-17			ENSG00000174945	ENSG00000174945			22231	protein-coding gene	gene with protein product	"""archaemetzincin-1"""	615168				15972818	Standard	NM_133463		Approved	KIAA1950	uc003smr.1	Q400G9	OTTHUMG00000152111	ENST00000312371.4:c.956A>C	7.37:g.2751971A>C	ENSP00000308149:p.Tyr319Ser					AMZ1_uc003sms.1_Silent_p.L262L|AMZ1_uc011jwa.1_Missense_Mutation_p.Y68S	p.Y319S	NM_133463	NP_597720	Q400G9	AMZ1_HUMAN		OV - Ovarian serous cystadenocarcinoma(56;5.03e-14)	7	1317	+		Ovarian(82;0.0779)	319					B3KRS0|Q8TF51	Missense_Mutation	SNP	ENST00000312371.4	37	c.956A>C	CCDS34589.1	.	.	.	.	.	.	.	.	.	.	A	8.211	0.800368	0.16397	.	.	ENSG00000174945	ENST00000312371	T	0.22539	1.95	4.85	3.7	0.42460	.	0.468555	0.19595	N	0.110522	T	0.19565	0.0470	L	0.46157	1.445	0.21499	N	0.999661	P	0.44877	0.845	B	0.41860	0.368	T	0.06625	-1.0816	10	0.44086	T	0.13	-11.5765	8.7736	0.34747	0.9122:0.0:0.0878:0.0	.	319	Q400G9	AMZ1_HUMAN	S	319	ENSP00000308149:Y319S	ENSP00000308149:Y319S	Y	+	2	0	AMZ1	2718497	0.155000	0.22806	0.005000	0.12908	0.832000	0.47134	5.355000	0.66046	0.708000	0.31955	0.379000	0.24179	TAC		PASS	0.652	AMZ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325244.1	NM_133463		12	26	12	26	---	---	---	---
RADIL	55698	broad.mit.edu	37	7	4917591	4917591	+	Silent	SNP	C	C	A			TCGA-22-4595-01A-01D-1267-08	TCGA-22-4595-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7fcf5123-2d1b-4666-9d39-a1aaf63cf954	850e8a4d-e0f6-4bd6-80f5-1c20e2b0e4f9	g.chr7:4917591C>A	ENST00000399583.3	-	2	367	c.180G>T	c.(178-180)tcG>tcT	p.S60S	RADIL_ENST00000536091.1_Silent_p.S60S	NM_018059.4	NP_060529.4	Q96JH8	RADIL_HUMAN	Ras association and DIL domains	60					multicellular organismal development (GO:0007275)|signal transduction (GO:0007165)|substrate adhesion-dependent cell spreading (GO:0034446)	microtubule (GO:0005874)		p.S60S(1)		NS(1)|biliary_tract(2)|breast(1)|central_nervous_system(3)|endometrium(2)|large_intestine(2)|lung(22)|pancreas(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0986)|OV - Ovarian serous cystadenocarcinoma(56;7.41e-15)		CACCAGGGGCCGACAGCTGGG	0.657																																						uc003snj.1																			1	Substitution - coding silent(1)		lung(1)	lung(2)|central_nervous_system(2)|pancreas(2)|breast(1)	7						c.(178-180)TCG>TCT		Rap GTPase interactor							19.0	24.0	23.0					7																	4917591		1993	4153	6146	SO:0001819	synonymous_variant	55698				cell adhesion|multicellular organismal development|signal transduction		protein binding	g.chr7:4917591C>A	AB058752	CCDS43544.1	7p22.1	2010-08-27			ENSG00000157927	ENSG00000157927			22226	protein-coding gene	gene with protein product		611491				16051602, 17704304	Standard	NM_018059		Approved	FLJ10324, KIAA1849, RASIP2	uc003snj.1	Q96JH8	OTTHUMG00000151753	ENST00000399583.3:c.180G>T	7.37:g.4917591C>A						RADIL_uc003sng.1_RNA|RADIL_uc011jwd.1_RNA	p.S60S	NM_018059	NP_060529	Q96JH8	RADIL_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.0986)|OV - Ovarian serous cystadenocarcinoma(56;7.41e-15)	2	353	-		Ovarian(82;0.0175)	60					A4D1Z5|A5YM49|B7ZL20|Q0VFZ9|Q75LH3|Q9BSP5|Q9H0M6|Q9NW43|Q9NWC4	Silent	SNP	ENST00000399583.3	37	c.180G>T	CCDS43544.1																																																																																				PASS	0.657	RADIL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323769.2	NM_018059		22	43	22	43	---	---	---	---
MRPL32	64983	broad.mit.edu	37	7	42977163	42977163	+	Silent	SNP	C	C	T			TCGA-22-4595-01A-01D-1267-08	TCGA-22-4595-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7fcf5123-2d1b-4666-9d39-a1aaf63cf954	850e8a4d-e0f6-4bd6-80f5-1c20e2b0e4f9	g.chr7:42977163C>T	ENST00000223324.2	+	3	742	c.555C>T	c.(553-555)ttC>ttT	p.F185F	MRPL32_ENST00000496564.1_Intron	NM_031903.2	NP_114109.1	Q9BYC8	RM32_HUMAN	mitochondrial ribosomal protein L32	185					translation (GO:0006412)	large ribosomal subunit (GO:0015934)|mitochondrial ribosome (GO:0005761)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)	p.F185F(1)		endometrium(1)|kidney(1)|large_intestine(2)|lung(6)	10						CATCCTGGTTCACCCAGAATT	0.428																																						uc003tia.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(553-555)TTC>TTT		mitochondrial ribosomal protein L32 precursor							61.0	57.0	58.0					7																	42977163		2203	4300	6503	SO:0001819	synonymous_variant	64983				translation	large ribosomal subunit|mitochondrial ribosome	structural constituent of ribosome	g.chr7:42977163C>T	AB051343	CCDS5468.1	7p14	2012-09-13			ENSG00000106591	ENSG00000106591		"""Mitochondrial ribosomal proteins / large subunits"""	14035	protein-coding gene	gene with protein product		611839				11543634	Standard	NM_031903		Approved	HSPC283, L32mt, MRP-L32, bMRP-59b	uc003tia.3	Q9BYC8	OTTHUMG00000155180	ENST00000223324.2:c.555C>T	7.37:g.42977163C>T						MRPL32_uc003tib.2_RNA|MRPL32_uc003tic.2_Silent_p.F132F	p.F185F	NM_031903	NP_114109	Q9BYC8	RM32_HUMAN			3	602	+			185					Q96Q68|Q9P098	Silent	SNP	ENST00000223324.2	37	c.555C>T	CCDS5468.1																																																																																				PASS	0.428	MRPL32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338669.1	NM_031903		24	82	24	82	---	---	---	---
ADCY1	107	broad.mit.edu	37	7	45701765	45701765	+	Missense_Mutation	SNP	G	G	C			TCGA-22-4595-01A-01D-1267-08	TCGA-22-4595-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7fcf5123-2d1b-4666-9d39-a1aaf63cf954	850e8a4d-e0f6-4bd6-80f5-1c20e2b0e4f9	g.chr7:45701765G>C	ENST00000297323.7	+	8	1579	c.1557G>C	c.(1555-1557)aaG>aaC	p.K519N	ADCY1_ENST00000432715.1_Missense_Mutation_p.K294N	NM_021116.2	NP_066939.1	Q08828	ADCY1_HUMAN	adenylate cyclase 1 (brain)	519	Interaction with calmodulin. {ECO:0000250}.				activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|axonogenesis (GO:0007409)|cellular response to glucagon stimulus (GO:0071377)|circadian rhythm (GO:0007623)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|long-term memory (GO:0007616)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of circadian rhythm (GO:0042752)|response to drug (GO:0042493)|response to lithium ion (GO:0010226)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium- and calmodulin-responsive adenylate cyclase activity (GO:0008294)|metal ion binding (GO:0046872)	p.K519N(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(14)|lung(33)|ovary(4)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	71					Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)	AAATGTTCAAGGCCGAGATCC	0.542																																						uc003tne.3																			1	Substitution - Missense(1)		lung(1)	ovary(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	6						c.(1555-1557)AAG>AAC		adenylate cyclase 1	Adenosine(DB00640)|Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)						82.0	68.0	73.0					7																	45701765		2203	4300	6503	SO:0001583	missense	107				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|calmodulin binding|metal ion binding	g.chr7:45701765G>C	L05500	CCDS34631.1, CCDS75593.1	7p13-p12	2013-02-04			ENSG00000164742	ENSG00000164742	4.6.1.1	"""Adenylate cyclases"""	232	protein-coding gene	gene with protein product		103072				8314585	Standard	NM_021116		Approved	AC1	uc003tne.4	Q08828	OTTHUMG00000155420	ENST00000297323.7:c.1557G>C	7.37:g.45701765G>C	ENSP00000297323:p.Lys519Asn					ADCY1_uc003tnd.2_Missense_Mutation_p.K294N	p.K519N	NM_021116	NP_066939	Q08828	ADCY1_HUMAN			8	1575	+			519			Interaction with calmodulin (By similarity).|Cytoplasmic (Potential).		A4D2L8|Q75MI1	Missense_Mutation	SNP	ENST00000297323.7	37	c.1557G>C	CCDS34631.1	.	.	.	.	.	.	.	.	.	.	G	11.51	1.659521	0.29515	.	.	ENSG00000164742	ENST00000432715;ENST00000297323;ENST00000545300	D;T	0.82344	-1.6;-1.24	4.98	2.86	0.33363	.	0.000000	0.85682	D	0.000000	D	0.82623	0.5077	L	0.43152	1.355	0.54753	D	0.999988	B;D	0.63880	0.027;0.993	B;D	0.72338	0.024;0.977	T	0.77702	-0.2489	10	0.16420	T	0.52	.	4.5114	0.11914	0.4136:0.0:0.5864:0.0	.	519;294	Q08828;C9J1J0	ADCY1_HUMAN;.	N	294;519;519	ENSP00000392721:K294N;ENSP00000297323:K519N	ENSP00000297323:K519N	K	+	3	2	ADCY1	45668290	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	2.813000	0.48002	1.104000	0.41587	0.591000	0.81541	AAG		PASS	0.542	ADCY1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340055.2	NM_021116		27	61	27	61	---	---	---	---
ZNF107	51427	broad.mit.edu	37	7	64167413	64167413	+	Missense_Mutation	SNP	A	A	G			TCGA-22-4595-01A-01D-1267-08	TCGA-22-4595-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7fcf5123-2d1b-4666-9d39-a1aaf63cf954	850e8a4d-e0f6-4bd6-80f5-1c20e2b0e4f9	g.chr7:64167413A>G	ENST00000395391.1	+	4	2106	c.731A>G	c.(730-732)tAc>tGc	p.Y244C	ZNF107_ENST00000344930.3_Missense_Mutation_p.Y244C|ZNF107_ENST00000423627.1_Missense_Mutation_p.Y244C			Q9UII5	ZN107_HUMAN	zinc finger protein 107	244					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.Y244C(1)		breast(1)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(18)|ovary(1)|stomach(1)	37		Lung NSC(55;0.00948)|all_lung(88;0.0249)				GAGAACCTCTACAAGTGTAAA	0.368																																						uc003ttd.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(730-732)TAC>TGC		zinc finger protein 107							44.0	48.0	47.0					7																	64167413		2203	4299	6502	SO:0001583	missense	51427				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr7:64167413A>G	AB027251	CCDS5527.1, CCDS75605.1, CCDS75606.1	7q11.2	2013-01-08	2007-06-26			ENSG00000196247		"""Zinc fingers, C2H2-type"""	12887	protein-coding gene	gene with protein product		603989	"""zinc finger protein 588"", ""zinc finger protein 107 (Y8)"""	ZNF588		8467795	Standard	NM_016220		Approved	ZFD25, smap-7	uc003tte.3	Q9UII5		ENST00000395391.1:c.731A>G	7.37:g.64167413A>G	ENSP00000378789:p.Tyr244Cys					ZNF107_uc003tte.2_Missense_Mutation_p.Y244C	p.Y244C	NM_016220	NP_057304	Q9UII5	ZN107_HUMAN			7	1517	+		Lung NSC(55;0.00948)|all_lung(88;0.0249)	244			C2H2-type 7.			Missense_Mutation	SNP	ENST00000395391.1	37	c.731A>G	CCDS5527.1	.	.	.	.	.	.	.	.	.	.	.	10.12	1.262658	0.23051	.	.	ENSG00000196247	ENST00000344930;ENST00000423627;ENST00000395391	T;T;T	0.25414	1.8;1.8;1.8	0.926	-1.51	0.08664	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.33731	0.0873	M	0.77103	2.36	0.09310	N	1	D	0.71674	0.998	P	0.52189	0.692	T	0.23154	-1.0196	8	.	.	.	.	3.6924	0.08351	0.6728:0.0:0.0:0.3272	.	244	Q9UII5	ZN107_HUMAN	C	244	ENSP00000343443:Y244C;ENSP00000400037:Y244C;ENSP00000378789:Y244C	.	Y	+	2	0	ZNF107	63804848	0.000000	0.05858	0.027000	0.17364	0.029000	0.11900	-1.645000	0.02000	0.263000	0.21812	0.260000	0.18958	TAC		PASS	0.368	ZNF107-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251593.1	NM_016220		25	75	25	75	---	---	---	---
TYW1	55253	broad.mit.edu	37	7	66490007	66490007	+	Nonsense_Mutation	SNP	A	A	T			TCGA-22-4595-01A-01D-1267-08	TCGA-22-4595-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7fcf5123-2d1b-4666-9d39-a1aaf63cf954	850e8a4d-e0f6-4bd6-80f5-1c20e2b0e4f9	g.chr7:66490007A>T	ENST00000359626.5	+	7	1146	c.982A>T	c.(982-984)Aag>Tag	p.K328*		NM_018264.2	NP_060734.2	Q9NV66	TYW1_HUMAN	tRNA-yW synthesizing protein 1 homolog (S. cerevisiae)	328					tRNA processing (GO:0008033)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	4 iron, 4 sulfur cluster binding (GO:0051539)|FMN binding (GO:0010181)|iron ion binding (GO:0005506)|lyase activity (GO:0016829)|oxidoreductase activity (GO:0016491)	p.K328*(1)		breast(1)|endometrium(8)|kidney(10)|large_intestine(4)|lung(13)|ovary(1)|prostate(2)|skin(3)|stomach(2)|urinary_tract(2)	46		Lung NSC(55;0.0846)|all_lung(88;0.183)				GAAGAAAGAAAAGGTACCGTT	0.413																																						uc003tvn.2																			1	Substitution - Nonsense(1)		lung(1)	skin(1)	1						c.(982-984)AAG>TAG		radical S-adenosyl methionine and flavodoxin							152.0	145.0	147.0					7																	66490007		2203	4300	6503	SO:0001587	stop_gained	55253				tRNA processing		4 iron, 4 sulfur cluster binding|FMN binding|iron ion binding|oxidoreductase activity	g.chr7:66490007A>T	AK001762	CCDS5538.1	7q11.21	2007-11-29	2007-11-29	2007-11-29	ENSG00000198874	ENSG00000198874			25598	protein-coding gene	gene with protein product	"""tRNA-yW synthesizing protein 1 homolog A (S. cerevisiae)"""	611243	"""radical S-adenosyl methionine and flavodoxin domains 1"""	RSAFD1		16162496, 17150819	Standard	NM_018264		Approved	FLJ10900, MGC23001, MGC60291, YPL207W, TYW1A	uc003tvn.4	Q9NV66	OTTHUMG00000129723	ENST00000359626.5:c.982A>T	7.37:g.66490007A>T	ENSP00000352645:p.Lys328*					TYW1_uc010lai.2_RNA	p.K328*	NM_018264	NP_060734	Q9NV66	TYW1_HUMAN			7	1131	+		Lung NSC(55;0.0846)|all_lung(88;0.183)	328					Q6PJG8|Q75MG8|Q75MN3|Q86V12|Q8IVS7|Q9H9C4	Nonsense_Mutation	SNP	ENST00000359626.5	37	c.982A>T	CCDS5538.1	.	.	.	.	.	.	.	.	.	.	A	35	5.499313	0.96355	.	.	ENSG00000198874	ENST00000359626	.	.	.	4.66	3.49	0.39957	.	0.227231	0.35466	U	0.003195	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	8.5116	0.33220	0.906:0.0:0.094:0.0	.	.	.	.	X	328	.	ENSP00000352645:K328X	K	+	1	0	TYW1	66127442	1.000000	0.71417	1.000000	0.80357	0.574000	0.36063	5.636000	0.67848	0.792000	0.33850	0.260000	0.18958	AAG		PASS	0.413	TYW1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251932.2	NM_018264		71	198	71	198	---	---	---	---
WBSCR17	64409	broad.mit.edu	37	7	70880885	70880885	+	Missense_Mutation	SNP	G	G	T			TCGA-22-4595-01A-01D-1267-08	TCGA-22-4595-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7fcf5123-2d1b-4666-9d39-a1aaf63cf954	850e8a4d-e0f6-4bd6-80f5-1c20e2b0e4f9	g.chr7:70880885G>T	ENST00000333538.5	+	4	1234	c.600G>T	c.(598-600)aaG>aaT	p.K200N	WBSCR17_ENST00000498380.2_3'UTR	NM_022479.1	NP_071924.1	Q6IS24	GLTL3_HUMAN	Williams-Beuren syndrome chromosome region 17	200	Catalytic subdomain A.				protein glycosylation (GO:0006486)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)	p.K200N(1)		NS(5)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(7)|large_intestine(22)|lung(45)|ovary(2)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	100		all_cancers(73;0.2)|Lung NSC(55;0.094)|all_lung(88;0.125)				AGGAGCTGAAGGTCCCCCTAG	0.498																																						uc003tvy.2																			1	Substitution - Missense(1)		lung(1)	skin(3)|upper_aerodigestive_tract(1)|ovary(1)|pancreas(1)|central_nervous_system(1)	7						c.(598-600)AAG>AAT		UDP-GalNAc:polypeptide							67.0	63.0	64.0					7																	70880885		2203	4300	6503	SO:0001583	missense	64409					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	g.chr7:70880885G>T	AF410457	CCDS5540.1	7q11.23	2014-03-13			ENSG00000185274	ENSG00000185274		"""Glycosyltransferase family 2 domain containing"""	16347	protein-coding gene	gene with protein product	"""polypeptide N-acetylgalactosaminyltransferase-like 3"", ""polypeptide GalNAc transferase 3"""	615137				12073013, 15744064, 22787146	Standard	NM_022479		Approved	GALNTL3, GalNAc-T5L	uc003tvy.4	Q6IS24	OTTHUMG00000129783	ENST00000333538.5:c.600G>T	7.37:g.70880885G>T	ENSP00000329654:p.Lys200Asn					WBSCR17_uc003tvz.2_Translation_Start_Site	p.K200N	NM_022479	NP_071924	Q6IS24	GLTL3_HUMAN			4	600	+		all_cancers(73;0.2)|Lung NSC(55;0.094)|all_lung(88;0.125)	200			Catalytic subdomain A.|Lumenal (Potential).		Q8NFV9|Q9NTA8	Missense_Mutation	SNP	ENST00000333538.5	37	c.600G>T	CCDS5540.1	.	.	.	.	.	.	.	.	.	.	G	15.72	2.915802	0.52546	.	.	ENSG00000185274	ENST00000333538;ENST00000447516	T;T	0.61392	0.11;0.11	5.17	3.35	0.38373	Glycosyl transferase, family 2 (1);	0.092388	0.64402	D	0.000001	T	0.72423	0.3458	M	0.74389	2.26	0.58432	D	0.999991	D	0.71674	0.998	D	0.74023	0.982	T	0.73363	-0.4006	10	0.87932	D	0	.	10.6162	0.45451	0.1565:0.0:0.8435:0.0	.	200	Q6IS24	GLTL3_HUMAN	N	200;178	ENSP00000329654:K200N;ENSP00000392019:K178N	ENSP00000329654:K200N	K	+	3	2	WBSCR17	70518821	1.000000	0.71417	1.000000	0.80357	0.533000	0.34776	1.764000	0.38471	0.568000	0.29311	0.563000	0.77884	AAG		PASS	0.498	WBSCR17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252006.1	NM_022479		15	73	15	73	---	---	---	---
ZNF804B	219578	broad.mit.edu	37	7	88965447	88965447	+	Missense_Mutation	SNP	C	C	G			TCGA-22-4595-01A-01D-1267-08	TCGA-22-4595-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7fcf5123-2d1b-4666-9d39-a1aaf63cf954	850e8a4d-e0f6-4bd6-80f5-1c20e2b0e4f9	g.chr7:88965447C>G	ENST00000333190.4	+	4	3760	c.3151C>G	c.(3151-3153)Caa>Gaa	p.Q1051E		NM_181646.2	NP_857597.1	A4D1E1	Z804B_HUMAN	zinc finger protein 804B	1051							metal ion binding (GO:0046872)	p.Q1051E(1)		NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(20)|lung(78)|ovary(5)|pancreas(5)|prostate(2)|skin(11)|soft_tissue(1)|upper_aerodigestive_tract(9)	144	all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151)		STAD - Stomach adenocarcinoma(171;0.0513)			AACAAAAGAACAATCAAAACC	0.353										HNSCC(36;0.09)																												uc011khi.1																			1	Substitution - Missense(1)		lung(1)	ovary(5)|skin(3)|pancreas(2)|upper_aerodigestive_tract(1)	11						c.(3151-3153)CAA>GAA		zinc finger protein 804B							68.0	63.0	65.0					7																	88965447		2203	4300	6503	SO:0001583	missense	219578					intracellular	zinc ion binding	g.chr7:88965447C>G	AK056672	CCDS5613.1	7q21.13	2012-10-05	2006-12-18		ENSG00000182348	ENSG00000182348			21958	protein-coding gene	gene with protein product			"""zinc finger 804B"""				Standard	NM_181646		Approved	FLJ32110	uc011khi.2	A4D1E1	OTTHUMG00000131037	ENST00000333190.4:c.3151C>G	7.37:g.88965447C>G	ENSP00000329638:p.Gln1051Glu	HNSCC(36;0.09)					p.Q1051E	NM_181646	NP_857597	A4D1E1	Z804B_HUMAN	STAD - Stomach adenocarcinoma(171;0.0513)		4	3689	+	all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151)		1051					B2RTV2|Q7Z714|Q96MN7	Missense_Mutation	SNP	ENST00000333190.4	37	c.3151C>G	CCDS5613.1	.	.	.	.	.	.	.	.	.	.	C	11.64	1.697552	0.30142	.	.	ENSG00000182348	ENST00000333190	T	0.05513	3.43	5.04	2.09	0.27110	.	0.386870	0.25305	N	0.031628	T	0.05410	0.0143	L	0.32530	0.975	0.21841	N	0.999517	B	0.29988	0.264	B	0.21917	0.037	T	0.29579	-1.0007	10	0.62326	D	0.03	-2.3526	11.0908	0.48115	0.2586:0.6168:0.1246:0.0	.	1051	A4D1E1	Z804B_HUMAN	E	1051	ENSP00000329638:Q1051E	ENSP00000329638:Q1051E	Q	+	1	0	ZNF804B	88803383	0.849000	0.29639	0.734000	0.30879	0.745000	0.42441	0.756000	0.26419	0.339000	0.23719	0.655000	0.94253	CAA		PASS	0.353	ZNF804B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253683.2	NM_181646		37	88	37	88	---	---	---	---
PEX1	5189	broad.mit.edu	37	7	92147523	92147523	+	Missense_Mutation	SNP	C	C	A			TCGA-22-4595-01A-01D-1267-08	TCGA-22-4595-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7fcf5123-2d1b-4666-9d39-a1aaf63cf954	850e8a4d-e0f6-4bd6-80f5-1c20e2b0e4f9	g.chr7:92147523C>A	ENST00000248633.4	-	4	499	c.404G>T	c.(403-405)cGa>cTa	p.R135L	PEX1_ENST00000438045.1_Intron|PEX1_ENST00000541751.1_5'Flank|PEX1_ENST00000428214.1_Missense_Mutation_p.R135L	NM_000466.2	NP_000457.1	O43933	PEX1_HUMAN	peroxisomal biogenesis factor 1	135					ATP catabolic process (GO:0006200)|microtubule-based peroxisome localization (GO:0060152)|peroxisome organization (GO:0007031)|protein import into peroxisome matrix (GO:0016558)|protein targeting to peroxisome (GO:0006625)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	ATP binding (GO:0005524)|ATPase activity, coupled (GO:0042623)|protein C-terminus binding (GO:0008022)|protein complex binding (GO:0032403)	p.R135L(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	41	all_cancers(62;9.35e-11)|all_epithelial(64;4.59e-10)|Breast(17;0.00201)|all_lung(186;0.0438)|Lung NSC(181;0.0592)	Breast(660;0.000932)|all_neural(109;0.00391)|Myeloproliferative disorder(862;0.0122)|Ovarian(593;0.023)|Medulloblastoma(109;0.123)	GBM - Glioblastoma multiforme(5;4.06e-06)|STAD - Stomach adenocarcinoma(4;4.51e-05)|all cancers(6;5.32e-05)|LUSC - Lung squamous cell carcinoma(200;0.225)|Lung(22;0.23)			AAAAACTATTCGAATTTGATC	0.348																																						uc003uly.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.(403-405)CGA>CTA		peroxin1							101.0	100.0	100.0					7																	92147523		2203	4300	6503	SO:0001583	missense	5189				microtubule-based peroxisome localization|protein import into peroxisome matrix	cytosol|nucleus|peroxisomal membrane	ATP binding|ATPase activity, coupled|protein C-terminus binding|protein complex binding	g.chr7:92147523C>A	AF026086	CCDS5627.1, CCDS64710.1	7q21.2	2010-04-21	2008-08-26		ENSG00000127980	ENSG00000127980		"""ATPases / AAA-type"""	8850	protein-coding gene	gene with protein product		602136	"""peroxisome biogenesis factor 1"", ""Zellweger syndrome 1"", ""Zellweger syndrome"""	ZWS1, ZWS		9398848	Standard	NM_001282677		Approved		uc003uly.3	O43933	OTTHUMG00000023926	ENST00000248633.4:c.404G>T	7.37:g.92147523C>A	ENSP00000248633:p.Arg135Leu					PEX1_uc011khr.1_5'UTR|PEX1_uc010ley.2_Missense_Mutation_p.R135L|PEX1_uc011khs.1_Intron|PEX1_uc011kht.1_5'Flank	p.R135L	NM_000466	NP_000457	O43933	PEX1_HUMAN	GBM - Glioblastoma multiforme(5;4.06e-06)|STAD - Stomach adenocarcinoma(4;4.51e-05)|all cancers(6;5.32e-05)|LUSC - Lung squamous cell carcinoma(200;0.225)|Lung(22;0.23)		4	500	-	all_cancers(62;9.35e-11)|all_epithelial(64;4.59e-10)|Breast(17;0.00201)|all_lung(186;0.0438)|Lung NSC(181;0.0592)	Breast(660;0.000932)|all_neural(109;0.00391)|Myeloproliferative disorder(862;0.0122)|Ovarian(593;0.023)|Medulloblastoma(109;0.123)	135					A4D1G3|A8KA90|B4DIM7|E9PE75|Q96S71|Q96S72|Q96S73|Q99994	Missense_Mutation	SNP	ENST00000248633.4	37	c.404G>T	CCDS5627.1	.	.	.	.	.	.	.	.	.	.	C	29.5	5.012936	0.93346	.	.	ENSG00000127980	ENST00000248633;ENST00000428214;ENST00000545192	D;D	0.96587	-4.01;-4.06	5.93	5.93	0.95920	Peroxisome biogenesis factor 1, N-terminal (1);	0.000000	0.85682	D	0.000000	D	0.98454	0.9485	M	0.87038	2.855	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.98863	1.0763	10	0.87932	D	0	-13.3009	20.3397	0.98756	0.0:1.0:0.0:0.0	.	135	O43933	PEX1_HUMAN	L	135	ENSP00000248633:R135L;ENSP00000394413:R135L	ENSP00000248633:R135L	R	-	2	0	PEX1	91985459	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	6.859000	0.75467	2.803000	0.96430	0.585000	0.79938	CGA		PASS	0.348	PEX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254066.3	NM_000466		49	91	49	91	---	---	---	---
ASB4	51666	broad.mit.edu	37	7	95167000	95167000	+	Missense_Mutation	SNP	A	A	T			TCGA-22-4595-01A-01D-1267-08	TCGA-22-4595-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7fcf5123-2d1b-4666-9d39-a1aaf63cf954	850e8a4d-e0f6-4bd6-80f5-1c20e2b0e4f9	g.chr7:95167000A>T	ENST00000325885.5	+	5	1281	c.1210A>T	c.(1210-1212)Att>Ttt	p.I404F		NM_016116.2	NP_057200.1	Q9Y574	ASB4_HUMAN	ankyrin repeat and SOCS box containing 4	404	SOCS box. {ECO:0000255|PROSITE- ProRule:PRU00194}.				intracellular signal transduction (GO:0035556)|positive regulation of vasculogenesis (GO:2001214)|protein autoubiquitination (GO:0051865)	Cul2-RING ubiquitin ligase complex (GO:0031462)|Cul5-RING ubiquitin ligase complex (GO:0031466)	ubiquitin-protein transferase activity (GO:0004842)	p.I404F(1)		central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(8)|pancreas(1)|prostate(1)|skin(2)	20	all_cancers(62;2.27e-10)|all_epithelial(64;2.28e-09)|Lung NSC(181;0.218)|all_lung(186;0.246)		STAD - Stomach adenocarcinoma(171;0.0151)			CCATAGAGCAATTCCTTTGCT	0.413																																						uc011kij.1																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1						c.(1210-1212)ATT>TTT		ankyrin repeat and SOCS box-containing protein 4							187.0	171.0	177.0					7																	95167000		2203	4300	6503	SO:0001583	missense	51666				intracellular signal transduction			g.chr7:95167000A>T	AF156779	CCDS5641.1, CCDS5642.1	7q21-q22	2013-01-10	2011-01-25		ENSG00000005981	ENSG00000005981		"""Ankyrin repeat domain containing"""	16009	protein-coding gene	gene with protein product		605761	"""ankyrin repeat and SOCS box-containing 4"""				Standard	NM_145872		Approved	ASB-4	uc011kij.2	Q9Y574	OTTHUMG00000153960	ENST00000325885.5:c.1210A>T	7.37:g.95167000A>T	ENSP00000321388:p.Ile404Phe						p.I404F	NM_016116	NP_057200	Q9Y574	ASB4_HUMAN	STAD - Stomach adenocarcinoma(171;0.0151)		5	1210	+	all_cancers(62;2.27e-10)|all_epithelial(64;2.28e-09)|Lung NSC(181;0.218)|all_lung(186;0.246)		404			SOCS box.		A4D1H6|O14586|Q14D68|Q8TBT2	Missense_Mutation	SNP	ENST00000325885.5	37	c.1210A>T	CCDS5641.1	.	.	.	.	.	.	.	.	.	.	A	12.80	2.047851	0.36085	.	.	ENSG00000005981	ENST00000325885	T	0.61510	0.1	4.96	2.6	0.31112	SOCS protein, C-terminal (3);	0.131389	0.52532	D	0.000073	T	0.69260	0.3091	M	0.76002	2.32	0.31825	N	0.625473	D	0.53619	0.961	D	0.63283	0.913	T	0.73142	-0.4076	10	0.87932	D	0	-31.5891	8.1489	0.31128	0.7615:0.0:0.2385:0.0	.	404	Q9Y574	ASB4_HUMAN	F	404	ENSP00000321388:I404F	ENSP00000321388:I404F	I	+	1	0	ASB4	95004936	0.999000	0.42202	1.000000	0.80357	0.215000	0.24574	3.183000	0.50918	0.859000	0.35456	-0.353000	0.07706	ATT		PASS	0.413	ASB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333225.2	NM_016116		51	158	51	158	---	---	---	---
GIGYF1	64599	broad.mit.edu	37	7	100280005	100280005	+	Missense_Mutation	SNP	C	C	T	rs572372743		TCGA-22-4595-01A-01D-1267-08	TCGA-22-4595-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7fcf5123-2d1b-4666-9d39-a1aaf63cf954	850e8a4d-e0f6-4bd6-80f5-1c20e2b0e4f9	g.chr7:100280005C>T	ENST00000275732.5	-	21	3910	c.2701G>A	c.(2701-2703)Ggc>Agc	p.G901S	GIGYF1_ENST00000471340.2_5'Flank	NM_022574.4	NP_072096.2	O75420	PERQ1_HUMAN	GRB10 interacting GYF protein 1	901					insulin-like growth factor receptor signaling pathway (GO:0048009)			p.G901S(1)|p.G620S(1)		central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	23	Lung NSC(181;0.035)|all_lung(186;0.0509)|Esophageal squamous(72;0.0817)					TGGGTGAAGCCGTCCTGGGGC	0.652																																						uc003uwg.1																			2	Substitution - Missense(2)		lung(2)	large_intestine(1)|central_nervous_system(1)	2						c.(2701-2703)GGC>AGC		PERQ amino acid rich, with GYF domain 1							58.0	49.0	52.0					7																	100280005		2203	4300	6503	SO:0001583	missense	64599							g.chr7:100280005C>T	AF053356	CCDS34708.1	7q22	2008-02-11	2008-02-11	2008-02-11	ENSG00000146830	ENSG00000146830			9126	protein-coding gene	gene with protein product	"""GYF domain containing 1"""	612064	"""PERQ amino acid rich, with GYF domain 1"""	PERQ1		9799793, 12771153	Standard	NM_022574		Approved	GYF1	uc003uwg.1	O75420	OTTHUMG00000157036	ENST00000275732.5:c.2701G>A	7.37:g.100280005C>T	ENSP00000275732:p.Gly901Ser						p.G901S	NM_022574	NP_072096	O75420	PERQ1_HUMAN			21	3710	-	Lung NSC(181;0.035)|all_lung(186;0.0509)|Esophageal squamous(72;0.0817)		901					Q6Y7W7|Q8WZ38	Missense_Mutation	SNP	ENST00000275732.5	37	c.2701G>A	CCDS34708.1	.	.	.	.	.	.	.	.	.	.	.	12.78	2.039203	0.35989	.	.	ENSG00000146830	ENST00000539430;ENST00000275732	T	0.75704	-0.96	5.14	5.14	0.70334	.	0.120349	0.56097	D	0.000037	D	0.82852	0.5127	M	0.62016	1.91	0.58432	D	0.999998	D	0.89917	1.0	D	0.63597	0.916	T	0.82526	-0.0413	10	0.45353	T	0.12	-20.3059	16.146	0.81569	0.0:1.0:0.0:0.0	.	901	O75420	PERQ1_HUMAN	S	620;901	ENSP00000275732:G901S	ENSP00000275732:G901S	G	-	1	0	GIGYF1	100117941	1.000000	0.71417	0.997000	0.53966	0.017000	0.09413	5.917000	0.69989	2.672000	0.90937	0.555000	0.69702	GGC		PASS	0.652	GIGYF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347205.2	NM_022574		13	35	13	35	---	---	---	---
DGKI	9162	broad.mit.edu	37	7	137255959	137255959	+	Missense_Mutation	SNP	C	C	A			TCGA-22-4595-01A-01D-1267-08	TCGA-22-4595-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7fcf5123-2d1b-4666-9d39-a1aaf63cf954	850e8a4d-e0f6-4bd6-80f5-1c20e2b0e4f9	g.chr7:137255959C>A	ENST00000288490.5	-	19	1909	c.1909G>T	c.(1909-1911)Ggt>Tgt	p.G637C	DGKI_ENST00000446122.1_Missense_Mutation_p.G637C|DGKI_ENST00000424189.2_Missense_Mutation_p.G637C|DGKI_ENST00000453654.2_Missense_Mutation_p.G337C	NM_004717.2	NP_004708.1	O75912	DGKI_HUMAN	diacylglycerol kinase, iota	637					blood coagulation (GO:0007596)|intracellular signal transduction (GO:0035556)|platelet activation (GO:0030168)|positive regulation of Ras protein signal transduction (GO:0046579)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|regulation of Rap GTPase activity (GO:0032317)	cytoplasm (GO:0005737)|guanyl-nucleotide exchange factor complex (GO:0032045)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|diacylglycerol kinase activity (GO:0004143)|GTPase inhibitor activity (GO:0005095)|metal ion binding (GO:0046872)|NAD+ kinase activity (GO:0003951)	p.G637C(2)		breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(46)|ovary(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	84						TCAATATAACCATCATCATGA	0.378																																						uc003vtt.2																			2	Substitution - Missense(2)		lung(2)	ovary(1)|kidney(1)|skin(1)	3						c.(1909-1911)GGT>TGT		diacylglycerol kinase, iota							94.0	92.0	93.0					7																	137255959		2203	4300	6503	SO:0001583	missense	9162				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	nucleus|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding	g.chr7:137255959C>A	AF061936	CCDS5845.1	7q32.3-q33	2013-01-10			ENSG00000157680	ENSG00000157680		"""Ankyrin repeat domain containing"""	2855	protein-coding gene	gene with protein product		604072				9830018	Standard	NM_004717		Approved	DGK-IOTA	uc003vtt.3	O75912	OTTHUMG00000155697	ENST00000288490.5:c.1909G>T	7.37:g.137255959C>A	ENSP00000288490:p.Gly637Cys					DGKI_uc003vtu.2_Missense_Mutation_p.G337C	p.G637C	NM_004717	NP_004708	O75912	DGKI_HUMAN			19	1910	-			637					A4D1Q9|Q9NZ49	Missense_Mutation	SNP	ENST00000288490.5	37	c.1909G>T	CCDS5845.1	.	.	.	.	.	.	.	.	.	.	C	29.4	4.999266	0.93227	.	.	ENSG00000157680	ENST00000453654;ENST00000540376;ENST00000424189;ENST00000288490;ENST00000446122	T;T;T	0.61742	0.08;0.08;0.08	6.17	6.17	0.99709	Diacylglycerol kinase, accessory domain (2);	0.000000	0.85682	D	0.000000	T	0.82217	0.4989	M	0.90542	3.125	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.84108	0.0399	10	0.87932	D	0	.	20.4898	0.99202	0.0:1.0:0.0:0.0	.	337;637	E9PFX6;O75912	.;DGKI_HUMAN	C	337;585;637;637;637	ENSP00000392161:G337C;ENSP00000288490:G637C;ENSP00000399131:G637C	ENSP00000288490:G637C	G	-	1	0	DGKI	136906499	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	7.292000	0.78731	2.941000	0.99782	0.655000	0.94253	GGT		PASS	0.378	DGKI-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000341286.3	NM_004717		22	56	22	56	---	---	---	---
TAS2R3	50831	broad.mit.edu	37	7	141464388	141464388	+	Missense_Mutation	SNP	A	A	T			TCGA-22-4595-01A-01D-1267-08	TCGA-22-4595-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7fcf5123-2d1b-4666-9d39-a1aaf63cf954	850e8a4d-e0f6-4bd6-80f5-1c20e2b0e4f9	g.chr7:141464388A>T	ENST00000247879.2	+	1	492	c.430A>T	c.(430-432)Agt>Tgt	p.S144C	SSBP1_ENST00000465582.1_Intron	NM_016943.2	NP_058639.1	Q9NYW6	TA2R3_HUMAN	taste receptor, type 2, member 3	144					detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)|sensory perception of taste (GO:0050909)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	bitter taste receptor activity (GO:0033038)|taste receptor activity (GO:0008527)	p.S144C(1)		breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(5)	14	Melanoma(164;0.0171)					ATCCTGTGGTAGTACCGCATC	0.473																																						uc003vwp.1																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1						c.(430-432)AGT>TGT		taste receptor T2R3							220.0	192.0	202.0					7																	141464388		2203	4300	6503	SO:0001583	missense	50831				sensory perception of taste		taste receptor activity	g.chr7:141464388A>T	AF227130	CCDS5867.1	7q31.3-q32	2012-08-22			ENSG00000127362	ENSG00000127362		"""Taste receptors / Type 2"", ""GPCR / Unclassified : Taste receptors"""	14910	protein-coding gene	gene with protein product		604868					Standard	NM_016943		Approved	T2R3	uc003vwp.1	Q9NYW6	OTTHUMG00000157637	ENST00000247879.2:c.430A>T	7.37:g.141464388A>T	ENSP00000247879:p.Ser144Cys						p.S144C	NM_016943	NP_058639	Q9NYW6	TA2R3_HUMAN			1	492	+	Melanoma(164;0.0171)		144			Helical; Name=4; (Potential).		A4D1U2|Q645W2|Q75MV6	Missense_Mutation	SNP	ENST00000247879.2	37	c.430A>T	CCDS5867.1	.	.	.	.	.	.	.	.	.	.	A	14.09	2.431232	0.43122	.	.	ENSG00000127362	ENST00000247879	T	0.37584	1.19	5.95	-1.5	0.08691	.	0.580257	0.17498	N	0.172105	T	0.19485	0.0468	N	0.20766	0.605	0.09310	N	1	B	0.21688	0.059	B	0.24541	0.054	T	0.16041	-1.0416	10	0.37606	T	0.19	.	7.26	0.26197	0.4074:0.1217:0.0:0.4709	.	144	Q9NYW6	TA2R3_HUMAN	C	144	ENSP00000247879:S144C	ENSP00000247879:S144C	S	+	1	0	TAS2R3	141110857	0.000000	0.05858	0.000000	0.03702	0.324000	0.28378	-0.515000	0.06290	-0.138000	0.11434	-0.490000	0.04691	AGT		PASS	0.473	TAS2R3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349288.1			66	132	66	132	---	---	---	---
DPP6	1804	broad.mit.edu	37	7	154667727	154667727	+	Missense_Mutation	SNP	C	C	A	rs558465693		TCGA-22-4595-01A-01D-1267-08	TCGA-22-4595-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7fcf5123-2d1b-4666-9d39-a1aaf63cf954	850e8a4d-e0f6-4bd6-80f5-1c20e2b0e4f9	g.chr7:154667727C>A	ENST00000377770.3	+	20	2136	c.1995C>A	c.(1993-1995)agC>agA	p.S665R	DPP6_ENST00000404039.1_Missense_Mutation_p.S601R|DPP6_ENST00000332007.3_Missense_Mutation_p.S603R|DPP6_ENST00000427557.1_Missense_Mutation_p.S558R			P42658	DPP6_HUMAN	dipeptidyl-peptidase 6	665					cell death (GO:0008219)|neuronal action potential (GO:0019228)|positive regulation of potassium ion transmembrane transport (GO:1901381)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	dipeptidyl-peptidase activity (GO:0008239)|serine-type peptidase activity (GO:0008236)	p.S601R(1)|p.S665R(1)|p.S603R(1)		NS(3)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(35)|pancreas(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	71	all_neural(206;0.181)	all_hematologic(28;0.0044)|all_lung(21;0.0176)|Lung NSC(21;0.0204)	OV - Ovarian serous cystadenocarcinoma(82;0.0562)			GCCGTGGCAGCGGCTTCCAAG	0.662																																					NSCLC(125;1384 1783 2490 7422 34254)	uc003wlk.2																			3	Substitution - Missense(3)		lung(3)	pancreas(3)|breast(1)	4						c.(1993-1995)AGC>AGA		dipeptidyl-peptidase 6 isoform 1							25.0	31.0	29.0					7																	154667727		2052	4170	6222	SO:0001583	missense	1804				cell death|proteolysis	integral to membrane	dipeptidyl-peptidase activity|serine-type peptidase activity	g.chr7:154667727C>A	M96859	CCDS75682.1, CCDS75683.1, CCDS75684.1	7q36.2	2006-08-07	2006-01-12		ENSG00000130226	ENSG00000130226			3010	protein-coding gene	gene with protein product		126141	"""dipeptidylpeptidase VI"", ""dipeptidylpeptidase 6"""			1729689	Standard	XM_006715871		Approved	DPPX	uc003wlk.3	P42658	OTTHUMG00000151511	ENST00000377770.3:c.1995C>A	7.37:g.154667727C>A	ENSP00000367001:p.Ser665Arg					DPP6_uc003wli.2_Missense_Mutation_p.S601R|DPP6_uc003wlm.2_Missense_Mutation_p.S603R|DPP6_uc011kvq.1_Missense_Mutation_p.S558R	p.S665R	NM_130797	NP_570629	P42658	DPP6_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0562)		20	2124	+	all_neural(206;0.181)	all_hematologic(28;0.0044)|all_lung(21;0.0176)|Lung NSC(21;0.0204)	665			Extracellular (Potential).			Missense_Mutation	SNP	ENST00000377770.3	37	c.1995C>A		.	.	.	.	.	.	.	.	.	.	C	17.57	3.423322	0.62733	.	.	ENSG00000130226	ENST00000404039;ENST00000377770;ENST00000332007;ENST00000427557	T;T;T;T	0.36699	1.24;1.24;1.24;1.24	4.92	-1.44	0.08856	Peptidase S9, prolyl oligopeptidase, catalytic domain (1);	0.039551	0.85682	D	0.000000	T	0.61887	0.2383	M	0.91140	3.18	0.49798	D	0.999829	D;D;D;D	0.71674	0.989;0.997;0.998;0.997	D;P;D;D	0.73708	0.981;0.895;0.961;0.937	T	0.68599	-0.5366	10	0.87932	D	0	-23.3673	11.945	0.52924	0.0:0.4176:0.0:0.5824	.	558;603;665;601	E9PDL2;P42658-2;P42658;E9PF59	.;.;DPP6_HUMAN;.	R	601;665;603;558	ENSP00000385578:S601R;ENSP00000367001:S665R;ENSP00000328226:S603R;ENSP00000397303:S558R	ENSP00000328226:S603R	S	+	3	2	DPP6	154298660	0.379000	0.25123	0.996000	0.52242	0.791000	0.44710	-0.395000	0.07287	-0.198000	0.10333	0.430000	0.28490	AGC		PASS	0.662	DPP6-003	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000322932.1	NM_130797		4	9	4	9	---	---	---	---
UBE3C	9690	broad.mit.edu	37	7	157049687	157049687	+	Missense_Mutation	SNP	A	A	T			TCGA-22-4595-01A-01D-1267-08	TCGA-22-4595-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7fcf5123-2d1b-4666-9d39-a1aaf63cf954	850e8a4d-e0f6-4bd6-80f5-1c20e2b0e4f9	g.chr7:157049687A>T	ENST00000348165.5	+	22	3390	c.3030A>T	c.(3028-3030)aaA>aaT	p.K1010N		NM_014671.2	NP_055486.2	Q15386	UBE3C_HUMAN	ubiquitin protein ligase E3C	1010	HECT. {ECO:0000255|PROSITE- ProRule:PRU00104}.				protein polyubiquitination (GO:0000209)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|intracellular (GO:0005622)|nucleus (GO:0005634)|proteasome complex (GO:0000502)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)	p.K1010N(1)		central_nervous_system(2)|endometrium(3)|kidney(16)|large_intestine(13)|lung(25)|ovary(2)|prostate(1)|urinary_tract(1)	63		all_hematologic(28;0.0185)|all_epithelial(9;0.0664)	OV - Ovarian serous cystadenocarcinoma(82;0.00448)	UCEC - Uterine corpus endometrioid carcinoma (81;0.19)		AAAAGCGCAAACTGCTGAAGT	0.423																																						uc010lqs.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|lung(2)|large_intestine(1)	5						c.(3028-3030)AAA>AAT		ubiquitin protein ligase E3C							166.0	158.0	161.0					7																	157049687		2203	4300	6503	SO:0001583	missense	9690				protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus|proteasome complex	protein binding|ubiquitin-protein ligase activity	g.chr7:157049687A>T	AK127280	CCDS34789.1	7q36.3	2004-05-04			ENSG00000009335	ENSG00000009335			16803	protein-coding gene	gene with protein product		614454				7584026, 11278995	Standard	NM_014671		Approved	KIAA0010, KIAA10	uc010lqs.3	Q15386	OTTHUMG00000157239	ENST00000348165.5:c.3030A>T	7.37:g.157049687A>T	ENSP00000309198:p.Lys1010Asn					UBE3C_uc003wni.3_Missense_Mutation_p.K373N	p.K1010N	NM_014671	NP_055486	Q15386	UBE3C_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00448)	UCEC - Uterine corpus endometrioid carcinoma (81;0.19)	22	3342	+		all_hematologic(28;0.0185)|all_epithelial(9;0.0664)	1010			HECT.		A4D235|A6NCP3|Q8TC15|Q96CR4|Q9UDU3	Missense_Mutation	SNP	ENST00000348165.5	37	c.3030A>T	CCDS34789.1	.	.	.	.	.	.	.	.	.	.	A	13.99	2.401555	0.42613	.	.	ENSG00000009335	ENST00000348165	T	0.58652	0.32	5.67	-2.44	0.06502	HECT (4);	0.000000	0.85682	D	0.000000	T	0.63721	0.2535	L	0.60845	1.875	0.80722	D	1	P;P	0.52316	0.952;0.899	P;P	0.62382	0.901;0.873	T	0.59968	-0.7354	10	0.36615	T	0.2	.	11.4661	0.50239	0.5118:0.0:0.4882:0.0	.	1010;863	Q15386;B4DHJ9	UBE3C_HUMAN;.	N	1010	ENSP00000309198:K1010N	ENSP00000309198:K1010N	K	+	3	2	UBE3C	156742448	0.207000	0.23482	0.388000	0.26195	0.024000	0.10985	-0.020000	0.12525	-0.757000	0.04697	-0.400000	0.06385	AAA		PASS	0.423	UBE3C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348108.1	NM_014671		87	216	87	216	---	---	---	---
MYOM2	9172	broad.mit.edu	37	8	2024291	2024291	+	Silent	SNP	C	C	T			TCGA-22-4595-01A-01D-1267-08	TCGA-22-4595-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7fcf5123-2d1b-4666-9d39-a1aaf63cf954	850e8a4d-e0f6-4bd6-80f5-1c20e2b0e4f9	g.chr8:2024291C>T	ENST00000262113.4	+	11	1332	c.1191C>T	c.(1189-1191)gaC>gaT	p.D397D	MYOM2_ENST00000523438.1_Intron	NM_003970.2	NP_003961.2	P54296	MYOM2_HUMAN	myomesin 2	397	Fibronectin type-III 1. {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.D397D(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)		CCAACCGGGACTACGTCATCG	0.632																																						uc003wpx.3																			1	Substitution - coding silent(1)		lung(1)	ovary(4)|central_nervous_system(1)|skin(1)	6						c.(1189-1191)GAC>GAT		myomesin 2							51.0	46.0	47.0					8																	2024291		2203	4300	6503	SO:0001819	synonymous_variant	9172				muscle contraction	myosin filament	structural constituent of muscle	g.chr8:2024291C>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.1191C>T	8.37:g.2024291C>T						MYOM2_uc011kwi.1_Intron	p.D397D	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)	11	1329	+		Ovarian(12;0.0572)|Colorectal(14;0.0844)|Hepatocellular(245;0.217)	397			Fibronectin type-III 1.		Q7Z3Y2	Silent	SNP	ENST00000262113.4	37	c.1191C>T	CCDS5957.1																																																																																				PASS	0.632	MYOM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251249.1	NM_003970		7	44	7	44	---	---	---	---
SPAG11A	653423	broad.mit.edu	37	8	7718231	7718231	+	Missense_Mutation	SNP	T	T	A			TCGA-22-4595-01A-01D-1267-08	TCGA-22-4595-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7fcf5123-2d1b-4666-9d39-a1aaf63cf954	850e8a4d-e0f6-4bd6-80f5-1c20e2b0e4f9	g.chr8:7718231T>A	ENST00000326558.5	+	3	301	c.278T>A	c.(277-279)tTt>tAt	p.F93Y	SPAG11A_ENST00000434307.2_3'UTR|SPAG11A_ENST00000326625.5_Missense_Mutation_p.F40Y|SPAG11A_ENST00000351436.4_Intron|SPAG11A_ENST00000454911.2_3'UTR	NM_001081552.2	NP_001075021.2	Q6PDA7	SG11A_HUMAN	sperm associated antigen 11A	0						extracellular region (GO:0005576)		p.F93Y(1)		central_nervous_system(1)|lung(2)	3				COAD - Colon adenocarcinoma(149;0.0162)|READ - Rectum adenocarcinoma(644;0.236)		TGCAGACTTTTTTTCTGCCAT	0.423																																						uc003wrx.2																			1	Substitution - Missense(1)		lung(1)		0						c.(409-411)TTT>TAT		sperm associated antigen 11A							122.0	95.0	104.0					8																	7718231		2190	4290	6480	SO:0001583	missense	653423					extracellular region		g.chr8:7718231T>A		CCDS43700.1	8p23.1	2009-09-12	2007-03-15		ENSG00000178287	ENSG00000178287			33342	protein-coding gene	gene with protein product	"""epididymal protein 2A"""						Standard	NM_001081552		Approved	HE2, EDDM2A		Q6PDA7	OTTHUMG00000162440	ENST00000326558.5:c.278T>A	8.37:g.7718231T>A	ENSP00000316012:p.Phe93Tyr					SPAG11A_uc003wry.2_3'UTR|SPAG11A_uc003wrz.2_Missense_Mutation_p.F93Y|SPAG11A_uc003wsa.2_Intron|SPAG11A_uc003wsb.2_Intron	p.F137Y	NM_001081552	NP_001075021	Q6PDA7	SG11A_HUMAN		COAD - Colon adenocarcinoma(149;0.0162)|READ - Rectum adenocarcinoma(644;0.236)	3	445	+			Error:Variant_position_missing_in_Q6PDA7_after_alignment					A6NIY0|E9PAK7	Missense_Mutation	SNP	ENST00000326558.5	37	c.410T>A	CCDS43700.1	.	.	.	.	.	.	.	.	.	.	T	0.349	-0.946157	0.02304	.	.	ENSG00000178287	ENST00000326558;ENST00000326625	T	0.22539	1.95	2.28	2.28	0.28536	.	.	.	.	.	T	0.23014	0.0556	.	.	.	0.21020	N	0.999807	B;D	0.62365	0.001;0.991	B;D	0.80764	0.003;0.994	T	0.10382	-1.0632	8	0.02654	T	1	-21.1089	6.5122	0.22228	0.0:0.0:0.0:1.0	.	93;93	Q6PDA7-2;C9JN37	.;.	Y	93;40	ENSP00000316648:F40Y	ENSP00000316012:F93Y	F	+	2	0	SPAG11A	7755641	0.998000	0.40836	0.991000	0.47740	0.804000	0.45430	2.724000	0.47285	1.299000	0.44798	0.329000	0.21502	TTT		PASS	0.423	SPAG11A-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000368921.2	NM_001081552		8	114	8	114	---	---	---	---
FDFT1	2222	broad.mit.edu	37	8	11689122	11689122	+	Missense_Mutation	SNP	G	G	A			TCGA-22-4595-01A-01D-1267-08	TCGA-22-4595-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7fcf5123-2d1b-4666-9d39-a1aaf63cf954	850e8a4d-e0f6-4bd6-80f5-1c20e2b0e4f9	g.chr8:11689122G>A	ENST00000220584.4	+	7	1197	c.975G>A	c.(973-975)atG>atA	p.M325I	FDFT1_ENST00000538689.1_Missense_Mutation_p.M214I|FDFT1_ENST00000528812.1_Missense_Mutation_p.M261I|FDFT1_ENST00000525777.1_Missense_Mutation_p.M240I|FDFT1_ENST00000525900.1_Missense_Mutation_p.M318I|FDFT1_ENST00000446331.2_3'UTR|FDFT1_ENST00000528643.1_Missense_Mutation_p.M240I|FDFT1_ENST00000530664.1_Missense_Mutation_p.M261I|FDFT1_ENST00000443614.2_Missense_Mutation_p.M282I	NM_004462.3	NP_004453.3	P37268	FDFT_HUMAN	farnesyl-diphosphate farnesyltransferase 1	325					cellular lipid metabolic process (GO:0044255)|cholesterol biosynthetic process (GO:0006695)|isoprenoid biosynthetic process (GO:0008299)|small molecule metabolic process (GO:0044281)|steroid biosynthetic process (GO:0006694)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	farnesyl-diphosphate farnesyltransferase activity (GO:0004310)|oxidoreductase activity (GO:0016491)|squalene synthase activity (GO:0051996)	p.M325I(1)		breast(1)|endometrium(1)|large_intestine(3)|lung(2)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)	12	all_epithelial(15;0.234)		STAD - Stomach adenocarcinoma(15;0.00225)	COAD - Colon adenocarcinoma(149;0.18)		TGACCCTGATGATGGATGCCA	0.433																																						uc003wui.2																			1	Substitution - Missense(1)		lung(1)		0						c.(973-975)ATG>ATA		squalene synthase							212.0	198.0	203.0					8																	11689122		2203	4300	6503	SO:0001583	missense	2222				cholesterol biosynthetic process|isoprenoid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	farnesyl-diphosphate farnesyltransferase activity|oxidoreductase activity|protein binding|squalene synthase activity	g.chr8:11689122G>A	X69141	CCDS5985.1, CCDS75696.1, CCDS75697.1	8p23.1-p22	2005-03-07			ENSG00000079459	ENSG00000079459	2.5.1.21		3629	protein-coding gene	gene with protein product	"""squalene synthase"""	184420					Standard	NM_001287742		Approved		uc003wui.3	P37268	OTTHUMG00000090801	ENST00000220584.4:c.975G>A	8.37:g.11689122G>A	ENSP00000220584:p.Met325Ile					FDFT1_uc003wuh.2_Missense_Mutation_p.M261I|FDFT1_uc010lsa.1_Missense_Mutation_p.M240I|FDFT1_uc011kxe.1_Missense_Mutation_p.M261I|FDFT1_uc011kxf.1_Missense_Mutation_p.M282I|FDFT1_uc011kxg.1_Missense_Mutation_p.M158I|FDFT1_uc003wuj.2_Missense_Mutation_p.M318I|FDFT1_uc010lsb.2_Missense_Mutation_p.M261I|FDFT1_uc011kxh.1_Missense_Mutation_p.M261I|FDFT1_uc011kxi.1_RNA|FDFT1_uc011kxj.1_Missense_Mutation_p.M261I|FDFT1_uc003wuk.2_Missense_Mutation_p.M384I|FDFT1_uc011kxk.1_Missense_Mutation_p.M240I	p.M325I	NM_004462	NP_004453	P37268	FDFT_HUMAN	STAD - Stomach adenocarcinoma(15;0.00225)	COAD - Colon adenocarcinoma(149;0.18)	7	1127	+	all_epithelial(15;0.234)		325					B3KQ95|B4DJE5|B4DT56|B7Z1J3|Q96GT0	Missense_Mutation	SNP	ENST00000220584.4	37	c.975G>A	CCDS5985.1	.	.	.	.	.	.	.	.	.	.	G	9.833	1.188887	0.21954	.	.	ENSG00000079459	ENST00000538689;ENST00000220584;ENST00000443614;ENST00000525900;ENST00000528812;ENST00000530664;ENST00000528643;ENST00000525777	T;T;T;T;T;T;T;T	0.70631	-0.5;-0.5;-0.5;-0.5;-0.5;-0.5;-0.5;-0.5	6.07	5.2	0.72013	Terpenoid synthase (2);	0.000000	0.85682	D	0.000000	T	0.57272	0.2042	L	0.36672	1.1	0.58432	D	0.999999	B;P;P;P;P	0.41131	0.408;0.618;0.739;0.494;0.494	B;B;B;B;B	0.37047	0.063;0.222;0.175;0.24;0.24	T	0.56353	-0.7993	10	0.08599	T	0.76	-44.0895	14.5267	0.67894	0.0697:0.0:0.9303:0.0	.	158;282;382;318;325	B4DWP0;B4DJE5;B4DND3;E9PNM1;P37268	.;.;.;.;FDFT_HUMAN	I	214;325;282;318;261;261;240;240	ENSP00000444248:M214I;ENSP00000220584:M325I;ENSP00000390367:M282I;ENSP00000434714:M318I;ENSP00000431749:M261I;ENSP00000432331:M261I;ENSP00000431649:M240I;ENSP00000436069:M240I	ENSP00000220584:M325I	M	+	3	0	FDFT1	11726531	1.000000	0.71417	1.000000	0.80357	0.860000	0.49131	9.570000	0.98174	1.583000	0.49898	-0.140000	0.14226	ATG		PASS	0.433	FDFT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207588.2			78	265	78	265	---	---	---	---
USP17L2	377630	broad.mit.edu	37	8	11995788	11995788	+	Missense_Mutation	SNP	G	G	T			TCGA-22-4595-01A-01D-1267-08	TCGA-22-4595-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7fcf5123-2d1b-4666-9d39-a1aaf63cf954	850e8a4d-e0f6-4bd6-80f5-1c20e2b0e4f9	g.chr8:11995788G>T	ENST00000333796.3	-	1	798	c.482C>A	c.(481-483)gCc>gAc	p.A161D	FAM66D_ENST00000434078.2_RNA	NM_001256869.1|NM_001256871.1|NM_001256872.1|NM_001256873.1|NM_001256874.1|NM_201402.2	NP_001243798.1|NP_001243800.1|NP_001243801.1|NP_001243802.1|NP_001243803.1|NP_958804.2	Q6R6M4	U17L2_HUMAN	ubiquitin specific peptidase 17-like family member 2	161	USP.				apoptotic process (GO:0006915)|CAAX-box protein processing (GO:0071586)|cell cycle checkpoint (GO:0000075)|mitotic cell cycle checkpoint (GO:0007093)|negative regulation of histone deacetylation (GO:0031064)|negative regulation of protein processing (GO:0010955)|negative regulation of protein targeting to membrane (GO:0090315)|negative regulation of Ras GTPase activity (GO:0034261)|positive regulation of MDA-5 signaling pathway (GO:1900245)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of RIG-I signaling pathway (GO:1900246)|protein deubiquitination (GO:0016579)|protein K48-linked deubiquitination (GO:0071108)|protein K63-linked deubiquitination (GO:0070536)|regulation of apoptotic process (GO:0042981)|regulation of cell migration (GO:0030334)|regulation of cell proliferation (GO:0042127)|regulation of defense response to virus by host (GO:0050691)|regulation of ruffle assembly (GO:1900027)|ubiquitin-dependent protein catabolic process (GO:0006511)	endoplasmic reticulum membrane (GO:0005789)|nucleus (GO:0005634)	ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)	p.A161D(1)		central_nervous_system(1)|kidney(1)|large_intestine(11)|liver(1)|lung(8)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	29						AAATTCATGGGCATCTTCCTG	0.532																																						uc003wvc.1																			1	Substitution - Missense(1)		lung(1)	skin(2)|upper_aerodigestive_tract(1)	3						c.(481-483)GCC>GAC		deubiquitinating enzyme 3							8.0	9.0	9.0					8																	11995788		1004	2233	3237	SO:0001583	missense	377630				apoptosis|cell cycle|G2/M transition checkpoint|mitotic cell cycle G1/S transition checkpoint|protein deubiquitination|ubiquitin-dependent protein catabolic process	nucleus	ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chr8:11995788G>T	BC156290	CCDS43713.1	8p23.1	2012-10-09	2012-10-09		ENSG00000223443	ENSG00000223443			34434	protein-coding gene	gene with protein product	"""deubiquitinating enzyme 3"""	610186	"""ubiquitin specific peptidase 17-like 2"""				Standard	NM_201402		Approved	DUB3	uc003wvc.1	Q6R6M4	OTTHUMG00000165295	ENST00000333796.3:c.482C>A	8.37:g.11995788G>T	ENSP00000333329:p.Ala161Asp					FAM66D_uc011kxp.1_Intron|FAM66D_uc011kxo.1_Intron	p.A161D	NM_201402	NP_958804	Q6R6M4	U17L2_HUMAN			1	482	-			161						Missense_Mutation	SNP	ENST00000333796.3	37	c.482C>A	CCDS43713.1	.	.	.	.	.	.	.	.	.	.	G	15.36	2.811051	0.50421	.	.	ENSG00000223443	ENST00000333796	T	0.12255	2.7	0.745	0.745	0.18359	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.000000	0.64402	D	0.000001	T	0.47284	0.1437	H	0.99058	4.415	0.38998	D	0.959293	D	0.89917	1.0	D	0.91635	0.999	T	0.52238	-0.8602	10	0.87932	D	0	.	4.9133	0.13833	0.0:0.0:1.0:0.0	.	161	Q6R6M4	U17L2_HUMAN	D	161	ENSP00000333329:A161D	ENSP00000333329:A161D	A	-	2	0	USP17L2	12033197	1.000000	0.71417	0.418000	0.26571	0.230000	0.25150	4.025000	0.57225	0.733000	0.32492	0.472000	0.43445	GCC		PASS	0.532	USP17L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383303.2	NM_201402		13	34	13	34	---	---	---	---
NEFM	4741	broad.mit.edu	37	8	24771859	24771859	+	Missense_Mutation	SNP	C	C	A			TCGA-22-4595-01A-01D-1267-08	TCGA-22-4595-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7fcf5123-2d1b-4666-9d39-a1aaf63cf954	850e8a4d-e0f6-4bd6-80f5-1c20e2b0e4f9	g.chr8:24771859C>A	ENST00000221166.5	+	1	1335	c.553C>A	c.(553-555)Ctc>Atc	p.L185I	NEFM_ENST00000437366.2_Missense_Mutation_p.L185I|NEFM_ENST00000433454.2_5'Flank|RP11-624C23.1_ENST00000519689.1_RNA|NEFM_ENST00000521540.1_3'UTR|NEFM_ENST00000518131.1_Missense_Mutation_p.L185I|GS1-72M22.1_ENST00000607058.1_RNA			P07197	NFM_HUMAN	neurofilament, medium polypeptide	185	Coil 1B.|Rod.				axon cargo transport (GO:0008088)|microtubule cytoskeleton organization (GO:0000226)|neurofilament bundle assembly (GO:0033693)|regulation of axon diameter (GO:0031133)	axon (GO:0030424)|neurofibrillary tangle (GO:0097418)|neurofilament (GO:0005883)|neuromuscular junction (GO:0031594)	microtubule binding (GO:0008017)|structural constituent of cytoskeleton (GO:0005200)	p.L185I(1)		breast(3)|endometrium(7)|kidney(4)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|urinary_tract(1)	36		Prostate(55;0.157)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0197)|Epithelial(17;2.44e-10)|Colorectal(74;0.0108)|COAD - Colon adenocarcinoma(73;0.0375)		CATCCACCGGCTCAAGGAGCG	0.657																																						uc003xed.3																			1	Substitution - Missense(1)		lung(1)	breast(1)	1						c.(553-555)CTC>ATC		neurofilament, medium polypeptide 150kDa isoform							37.0	38.0	37.0					8																	24771859		2203	4299	6502	SO:0001583	missense	4741					neurofilament	protein binding|structural constituent of cytoskeleton	g.chr8:24771859C>A	BC002421	CCDS6046.1, CCDS47831.1	8p21	2013-01-16	2008-09-19	2006-11-20	ENSG00000104722	ENSG00000104722		"""Intermediate filaments type IV"""	7734	protein-coding gene	gene with protein product		162250	"""neurofilament, medium polypeptide 150kDa"""	NEF3		1348579	Standard	NM_001105541		Approved	NFM, NF-M	uc003xed.4	P07197	OTTHUMG00000131990	ENST00000221166.5:c.553C>A	8.37:g.24771859C>A	ENSP00000221166:p.Leu185Ile					NEFM_uc011lac.1_Missense_Mutation_p.L185I|NEFM_uc010lue.2_5'Flank|uc010luc.1_Missense_Mutation_p.S70I	p.L185I	NM_005382	NP_005373	P07197	NFM_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0197)|Epithelial(17;2.44e-10)|Colorectal(74;0.0108)|COAD - Colon adenocarcinoma(73;0.0375)	1	586	+		Prostate(55;0.157)	185			Rod.|Coil 1B.		B4DGN2|E9PBF7|Q4QRK6	Missense_Mutation	SNP	ENST00000221166.5	37	c.553C>A	CCDS6046.1	.	.	.	.	.	.	.	.	.	.	C	19.36	3.812986	0.70912	.	.	ENSG00000104722	ENST00000221166;ENST00000518131;ENST00000437366	D;D;D	0.91124	-2.79;-2.79;-2.79	4.85	3.97	0.46021	Filament (1);	0.000000	0.41500	D	0.000863	D	0.92731	0.7689	L	0.48218	1.51	0.80722	D	1	P;D	0.89917	0.927;1.0	P;D	0.72982	0.679;0.979	D	0.92509	0.6015	10	0.52906	T	0.07	.	13.3511	0.60603	0.0:0.9224:0.0:0.0776	.	185;185	E7EMV2;P07197	.;NFM_HUMAN	I	185	ENSP00000221166:L185I;ENSP00000427872:L185I;ENSP00000410137:L185I	ENSP00000221166:L185I	L	+	1	0	NEFM	24827764	1.000000	0.71417	1.000000	0.80357	0.730000	0.41778	1.535000	0.36061	1.161000	0.42604	0.467000	0.42956	CTC		PASS	0.657	NEFM-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254954.2	NM_005382		7	47	7	47	---	---	---	---
UNC5D	137970	broad.mit.edu	37	8	35608194	35608194	+	Missense_Mutation	SNP	C	C	T			TCGA-22-4595-01A-01D-1267-08	TCGA-22-4595-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7fcf5123-2d1b-4666-9d39-a1aaf63cf954	850e8a4d-e0f6-4bd6-80f5-1c20e2b0e4f9	g.chr8:35608194C>T	ENST00000404895.2	+	13	2358	c.2030C>T	c.(2029-2031)gCg>gTg	p.A677V	UNC5D_ENST00000420357.1_Missense_Mutation_p.A610V|UNC5D_ENST00000453357.2_Missense_Mutation_p.A672V|UNC5D_ENST00000449677.1_Missense_Mutation_p.A253V|UNC5D_ENST00000287272.2_Missense_Mutation_p.A608V|UNC5D_ENST00000416672.1_Missense_Mutation_p.A682V	NM_080872.2	NP_543148.2	Q6UXZ4	UNC5D_HUMAN	unc-5 homolog D (C. elegans)	677					apoptotic process (GO:0006915)|axon guidance (GO:0007411)|pyramidal neuron differentiation (GO:0021859)|regulation of neuron migration (GO:2001222)|signal transduction (GO:0007165)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)		p.A672V(1)		NS(2)|breast(7)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(56)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(6)|urinary_tract(2)	112				READ - Rectum adenocarcinoma(1;1.31e-05)|Colorectal(1;0.000723)		GGGACCTATGCGCTCACTGGA	0.502																																						uc003xjr.1																			1	Substitution - Missense(1)		lung(1)	upper_aerodigestive_tract(2)|ovary(2)|pancreas(1)|skin(1)	6						c.(2029-2031)GCG>GTG		unc-5 homolog D precursor							255.0	212.0	226.0					8																	35608194		2203	4300	6503	SO:0001583	missense	137970				apoptosis|axon guidance	integral to membrane	receptor activity	g.chr8:35608194C>T	AB055056	CCDS6093.2	8p12	2013-01-11			ENSG00000156687	ENSG00000156687		"""Immunoglobulin superfamily / I-set domain containing"""	18634	protein-coding gene	gene with protein product						18402767	Standard	NM_080872		Approved	KIAA1777, Unc5h4	uc003xjr.2	Q6UXZ4	OTTHUMG00000157145	ENST00000404895.2:c.2030C>T	8.37:g.35608194C>T	ENSP00000385143:p.Ala677Val					UNC5D_uc003xjs.1_Missense_Mutation_p.A672V|UNC5D_uc003xju.1_Missense_Mutation_p.A253V	p.A677V	NM_080872	NP_543148	Q6UXZ4	UNC5D_HUMAN		READ - Rectum adenocarcinoma(1;1.31e-05)|Colorectal(1;0.000723)	13	2358	+			677			Cytoplasmic (Potential).		Q8WYP7	Missense_Mutation	SNP	ENST00000404895.2	37	c.2030C>T	CCDS6093.2	.	.	.	.	.	.	.	.	.	.	C	23.7	4.446497	0.84101	.	.	ENSG00000156687	ENST00000404895;ENST00000420357;ENST00000287272;ENST00000416672;ENST00000453357;ENST00000449677	T;T;T;T;T;T	0.54279	0.61;1.04;1.03;0.61;0.58;2.5	5.9	5.9	0.94986	.	0.000000	0.85682	D	0.000000	T	0.66963	0.2843	L	0.42632	1.34	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.85130	0.996;0.997;0.994	T	0.58440	-0.7636	10	0.25751	T	0.34	-24.623	20.2822	0.98520	0.0:1.0:0.0:0.0	.	253;672;677	E9PDS8;Q6UXZ4-2;Q6UXZ4	.;.;UNC5D_HUMAN	V	677;610;608;682;672;253	ENSP00000385143:A677V;ENSP00000392739:A610V;ENSP00000287272:A608V;ENSP00000412652:A682V;ENSP00000394303:A672V;ENSP00000397211:A253V	ENSP00000287272:A608V	A	+	2	0	UNC5D	35727736	1.000000	0.71417	0.999000	0.59377	0.758000	0.43043	7.487000	0.81328	2.806000	0.96561	0.655000	0.94253	GCG		PASS	0.502	UNC5D-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000347586.2			5	284	5	284	---	---	---	---
EFCAB1	79645	broad.mit.edu	37	8	49641664	49641664	+	Silent	SNP	T	T	C			TCGA-22-4595-01A-01D-1267-08	TCGA-22-4595-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7fcf5123-2d1b-4666-9d39-a1aaf63cf954	850e8a4d-e0f6-4bd6-80f5-1c20e2b0e4f9	g.chr8:49641664T>C	ENST00000262103.3	-	5	593	c.513A>G	c.(511-513)gaA>gaG	p.E171E	EFCAB1_ENST00000521002.1_5'UTR|EFCAB1_ENST00000433756.1_Silent_p.E119E|EFCAB1_ENST00000523092.1_Silent_p.E119E	NM_024593.3	NP_078869.1	Q9HAE3	EFCB1_HUMAN	EF-hand calcium binding domain 1	171	EF-hand 3. {ECO:0000255|PROSITE- ProRule:PRU00448}.						calcium ion binding (GO:0005509)	p.E171E(1)		endometrium(1)|large_intestine(3)|lung(6)|pancreas(1)|prostate(1)|urinary_tract(2)	14		all_epithelial(80;0.0134)|Lung NSC(129;0.0207)|all_lung(136;0.0464)				TCACAGCCAGTTCATAGTCTG	0.433																																						uc003xqo.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(511-513)GAA>GAG		EF-hand calcium binding domain 1 isoform a							114.0	99.0	104.0					8																	49641664		2203	4300	6503	SO:0001819	synonymous_variant	79645						calcium ion binding	g.chr8:49641664T>C		CCDS6145.1, CCDS47853.1	8q11.21	2013-01-10			ENSG00000034239	ENSG00000034239		"""EF-hand domain containing"""	25678	protein-coding gene	gene with protein product						12477932	Standard	NM_024593		Approved	FLJ11767	uc003xqo.2	Q9HAE3	OTTHUMG00000164203	ENST00000262103.3:c.513A>G	8.37:g.49641664T>C						EFCAB1_uc003xqn.3_RNA|EFCAB1_uc011ldj.1_Silent_p.E119E|EFCAB1_uc010lxx.2_RNA|EFCAB1_uc011ldk.1_RNA	p.E171E	NM_024593	NP_078869	Q9HAE3	EFCB1_HUMAN			5	673	-		all_epithelial(80;0.0134)|Lung NSC(129;0.0207)|all_lung(136;0.0464)	171			EF-hand 3.		B4DSB4|E7EVN7	Silent	SNP	ENST00000262103.3	37	c.513A>G	CCDS6145.1	.	.	.	.	.	.	.	.	.	.	T	8.290	0.817553	0.16607	.	.	ENSG00000034239	ENST00000523008;ENST00000522254	.	.	.	5.22	2.58	0.30949	.	.	.	.	.	T	0.55065	0.1897	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.45026	-0.9289	4	.	.	.	.	6.9518	0.24550	0.0:0.255:0.0:0.745	.	.	.	.	A	38;89	.	.	T	-	1	0	EFCAB1	49804217	0.989000	0.36119	0.526000	0.27913	0.910000	0.53928	1.741000	0.38238	0.323000	0.23307	-0.421000	0.06004	ACT		PASS	0.433	EFCAB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377778.1	NM_024593		23	69	23	69	---	---	---	---
RP1	6101	broad.mit.edu	37	8	55541884	55541884	+	Silent	SNP	A	A	T			TCGA-22-4595-01A-01D-1267-08	TCGA-22-4595-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7fcf5123-2d1b-4666-9d39-a1aaf63cf954	850e8a4d-e0f6-4bd6-80f5-1c20e2b0e4f9	g.chr8:55541884A>T	ENST00000220676.1	+	4	5590	c.5442A>T	c.(5440-5442)ctA>ctT	p.L1814L		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	1814					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.L1814L(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)			CCCTTGAACTAAAATGCAATT	0.443																																					Colon(91;1014 1389 7634 14542 40420)	uc003xsd.1																			1	Substitution - coding silent(1)		lung(1)	skin(7)|ovary(4)|pancreas(1)	12						c.(5440-5442)CTA>CTT		retinitis pigmentosa RP1 protein							69.0	64.0	66.0					8																	55541884		2203	4300	6503	SO:0001819	synonymous_variant	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.chr8:55541884A>T	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.5442A>T	8.37:g.55541884A>T						RP1_uc011ldy.1_Intron	p.L1814L	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	5590	+		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	1814						Silent	SNP	ENST00000220676.1	37	c.5442A>T	CCDS6160.1																																																																																				PASS	0.443	RP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378532.2	NM_006269		19	52	19	52	---	---	---	---
TOX	9760	broad.mit.edu	37	8	59739410	59739410	+	Missense_Mutation	SNP	C	C	G	rs377240054		TCGA-22-4595-01A-01D-1267-08	TCGA-22-4595-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7fcf5123-2d1b-4666-9d39-a1aaf63cf954	850e8a4d-e0f6-4bd6-80f5-1c20e2b0e4f9	g.chr8:59739410C>G	ENST00000361421.1	-	6	1196	c.976G>C	c.(976-978)Gca>Cca	p.A326P		NM_014729.2	NP_055544.1	O94900	TOX_HUMAN	thymocyte selection-associated high mobility group box	326						nucleus (GO:0005634)	DNA binding (GO:0003677)	p.A326P(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(13)|prostate(1)|skin(2)|stomach(1)	33		all_cancers(86;0.165)|Myeloproliferative disorder(644;0.00452)|all_lung(136;0.036)|Lung NSC(129;0.0464)|all_epithelial(80;0.0607)				CTGTATGCTGCGAGTTGCTTC	0.438																																					Pancreas(161;610 1969 17913 21374 22725)	uc003xtw.1																			1	Substitution - Missense(1)		lung(1)	kidney(2)|lung(1)|skin(1)	4						c.(976-978)GCA>CCA		thymus high mobility group box protein TOX							187.0	144.0	159.0					8																	59739410		2203	4300	6503	SO:0001583	missense	9760					nucleus	DNA binding	g.chr8:59739410C>G		CCDS34897.1	8q12.2-q12.3	2009-04-17			ENSG00000198846	ENSG00000198846			18988	protein-coding gene	gene with protein product		606863				9872452, 11850626	Standard	NM_014729		Approved	KIAA0808, TOX1	uc003xtw.1	O94900	OTTHUMG00000164331	ENST00000361421.1:c.976G>C	8.37:g.59739410C>G	ENSP00000354842:p.Ala326Pro						p.A326P	NM_014729	NP_055544	O94900	TOX_HUMAN			6	1197	-		all_cancers(86;0.165)|Myeloproliferative disorder(644;0.00452)|all_lung(136;0.036)|Lung NSC(129;0.0464)|all_epithelial(80;0.0607)	326			HMG box.		Q96AV5	Missense_Mutation	SNP	ENST00000361421.1	37	c.976G>C	CCDS34897.1	.	.	.	.	.	.	.	.	.	.	C	32	5.151948	0.94645	.	.	ENSG00000198846	ENST00000361421;ENST00000456290	D	0.97710	-4.5	5.82	5.82	0.92795	High mobility group, HMG1/HMG2, subgroup (1);High mobility group, superfamily (1);High mobility group, HMG1/HMG2 (4);	0.000000	0.85682	D	0.000000	D	0.98639	0.9544	M	0.74467	2.265	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.98755	1.0722	9	.	.	.	.	20.0966	0.97849	0.0:1.0:0.0:0.0	.	326	O94900	TOX_HUMAN	P	326;84	ENSP00000354842:A326P	.	A	-	1	0	TOX	59901964	1.000000	0.71417	0.999000	0.59377	0.703000	0.40648	7.794000	0.85869	2.751000	0.94390	0.650000	0.86243	GCA		PASS	0.438	TOX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378307.1	NM_014729		12	32	12	32	---	---	---	---
CLVS1	157807	broad.mit.edu	37	8	62366772	62366772	+	Missense_Mutation	SNP	C	C	G	rs374404656		TCGA-22-4595-01A-01D-1267-08	TCGA-22-4595-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7fcf5123-2d1b-4666-9d39-a1aaf63cf954	850e8a4d-e0f6-4bd6-80f5-1c20e2b0e4f9	g.chr8:62366772C>G	ENST00000519846.1	+	5	1175	c.703C>G	c.(703-705)Ctc>Gtc	p.L235V	CLVS1_ENST00000325897.4_Missense_Mutation_p.L235V|CLVS1_ENST00000518592.1_5'UTR			Q8IUQ0	CLVS1_HUMAN	clavesin 1	235	CRAL-TRIO. {ECO:0000255|PROSITE- ProRule:PRU00056}.				lysosome organization (GO:0007040)	clathrin-coated vesicle (GO:0030136)|endosome (GO:0005768)|membrane (GO:0016020)|trans-Golgi network (GO:0005802)	phosphatidylinositol-3,5-bisphosphate binding (GO:0080025)|transporter activity (GO:0005215)	p.L235V(1)		endometrium(3)|kidney(4)|large_intestine(4)|lung(21)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	41						CCTCTACACACTCATCAAGCC	0.453																																						uc003xuh.2																			1	Substitution - Missense(1)		lung(1)	skin(4)|ovary(1)	5						c.(703-705)CTC>GTC		retinaldehyde binding protein 1-like 1							226.0	211.0	216.0					8																	62366772		2203	4300	6503	SO:0001583	missense	157807				lysosome organization	clathrin-coated vesicle|early endosome membrane|trans-Golgi network	phosphatidylinositol-3,5-bisphosphate binding|transporter activity	g.chr8:62366772C>G	AY094971	CCDS6176.1	8q12.1	2009-10-14	2009-10-14	2009-10-14		ENSG00000177182			23139	protein-coding gene	gene with protein product		611292	"""retinaldehyde binding protein 1-like 1"""	RLBP1L1		16802092, 19651769	Standard	NM_173519		Approved	MGC34646, CRALBPL, C6orf212L	uc003xuh.3	Q8IUQ0		ENST00000519846.1:c.703C>G	8.37:g.62366772C>G	ENSP00000428402:p.Leu235Val					CLVS1_uc003xui.2_RNA|CLVS1_uc010lyp.2_Missense_Mutation_p.L235V	p.L235V	NM_173519	NP_775790	Q8IUQ0	CLVS1_HUMAN			4	1027	+			235			CRAL-TRIO.		B2R7M5|C8UZT3|Q8NB32	Missense_Mutation	SNP	ENST00000519846.1	37	c.703C>G	CCDS6176.1	.	.	.	.	.	.	.	.	.	.	C	1.367	-0.587256	0.03799	.	.	ENSG00000177182	ENST00000519846;ENST00000325897	T;T	0.78481	-1.18;-1.18	4.81	4.81	0.61882	Cellular retinaldehyde-binding/triple function, C-terminal (5);	0.060218	0.64402	D	0.000007	T	0.56673	0.2001	N	0.11131	0.1	0.44012	D	0.99672	B	0.02656	0.0	B	0.09377	0.004	T	0.53493	-0.8431	10	0.07482	T	0.82	-9.6943	13.4121	0.60948	0.157:0.843:0.0:0.0	.	235	Q8IUQ0	CLVS1_HUMAN	V	235	ENSP00000428402:L235V;ENSP00000325506:L235V	ENSP00000325506:L235V	L	+	1	0	CLVS1	62529326	0.989000	0.36119	0.980000	0.43619	0.851000	0.48451	2.738000	0.47401	2.661000	0.90470	0.655000	0.94253	CTC		PASS	0.453	CLVS1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378323.1	NM_173519		70	270	70	270	---	---	---	---
NCOA2	10499	broad.mit.edu	37	8	71050559	71050559	+	Missense_Mutation	SNP	C	C	G			TCGA-22-4595-01A-01D-1267-08	TCGA-22-4595-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7fcf5123-2d1b-4666-9d39-a1aaf63cf954	850e8a4d-e0f6-4bd6-80f5-1c20e2b0e4f9	g.chr8:71050559C>G	ENST00000452400.2	-	15	3218	c.3037G>C	c.(3037-3039)Gaa>Caa	p.E1013Q	NCOA2_ENST00000267974.4_Missense_Mutation_p.E101Q	NM_006540.2	NP_006531.1	Q15596	NCOA2_HUMAN	nuclear receptor coactivator 2	1013					cellular lipid metabolic process (GO:0044255)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of glucose metabolic process (GO:0010906)|regulation of transcription, DNA-templated (GO:0006355)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	chromatin binding (GO:0003682)|histone acetyltransferase activity (GO:0004402)|ligand-dependent nuclear receptor binding (GO:0016922)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|nuclear hormone receptor binding (GO:0035257)|signal transducer activity (GO:0004871)|thyroid hormone receptor coactivator activity (GO:0030375)|transcription coactivator activity (GO:0003713)	p.E1013Q(1)	PAX3/NCOA2(4)|HEY1/NCOA2(10)	NS(1)|breast(4)|endometrium(7)|kidney(4)|large_intestine(10)|lung(25)|ovary(1)|pancreas(2)|prostate(2)|skin(4)	60	Breast(64;0.201)		Epithelial(68;0.0147)|OV - Ovarian serous cystadenocarcinoma(28;0.0455)|all cancers(69;0.0606)			ATCTCTAATTCAGATGGCCCT	0.413			T	"""RUNXBP2, HEY1"""	"""AML, Chondrosarcoma"""																																	uc003xyn.1				Dom	yes		8	8q13.1	10499	T	nuclear receptor coactivator 2 (TIF2)			L	RUNXBP2		AML	PAX3/NCOA2(4)	1	Substitution - Missense(1)		lung(1)	lung(6)|soft_tissue(4)|breast(2)|skin(2)|ovary(1)|pancreas(1)	16						c.(3037-3039)GAA>CAA		nuclear receptor coactivator 2							80.0	75.0	77.0					8																	71050559		1824	4083	5907	SO:0001583	missense	10499				cellular lipid metabolic process|transcription, DNA-dependent	nucleoplasm	histone acetyltransferase activity|ligand-dependent nuclear receptor binding|nuclear hormone receptor binding|signal transducer activity	g.chr8:71050559C>G	X97674	CCDS47872.1	8q13.3	2011-07-01			ENSG00000140396	ENSG00000140396		"""Chromatin-modifying enzymes / K-acetyltransferases"", ""Basic helix-loop-helix proteins"""	7669	protein-coding gene	gene with protein product		601993				9111344, 8670870	Standard	XM_005251128		Approved	TIF2, GRIP1, NCoA-2, KAT13C, bHLHe75	uc003xyn.1	Q15596	OTTHUMG00000164671	ENST00000452400.2:c.3037G>C	8.37:g.71050559C>G	ENSP00000399968:p.Glu1013Gln					NCOA2_uc011lfb.1_Missense_Mutation_p.E101Q	p.E1013Q	NM_006540	NP_006531	Q15596	NCOA2_HUMAN	Epithelial(68;0.0147)|OV - Ovarian serous cystadenocarcinoma(28;0.0455)|all cancers(69;0.0606)		15	3199	-	Breast(64;0.201)		1013					Q14CD2	Missense_Mutation	SNP	ENST00000452400.2	37	c.3037G>C	CCDS47872.1	.	.	.	.	.	.	.	.	.	.	C	27.0	4.793296	0.90453	.	.	ENSG00000140396	ENST00000452400;ENST00000267974	T;T	0.08984	4.58;3.03	5.88	5.88	0.94601	.	0.209202	0.49916	D	0.000138	T	0.29556	0.0737	M	0.77103	2.36	0.43347	D	0.9954	D;P	0.62365	0.991;0.86	P;B	0.58820	0.846;0.395	T	0.00569	-1.1666	10	0.72032	D	0.01	.	20.2422	0.98381	0.0:1.0:0.0:0.0	.	101;1013	F8WAJ2;Q15596	.;NCOA2_HUMAN	Q	1013;101	ENSP00000399968:E1013Q;ENSP00000267974:E101Q	ENSP00000267974:E101Q	E	-	1	0	NCOA2	71213113	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	5.432000	0.66514	2.782000	0.95742	0.655000	0.94253	GAA		PASS	0.413	NCOA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379696.1			10	23	10	23	---	---	---	---
MMP16	4325	broad.mit.edu	37	8	89053690	89053690	+	Silent	SNP	C	C	T			TCGA-22-4595-01A-01D-1267-08	TCGA-22-4595-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7fcf5123-2d1b-4666-9d39-a1aaf63cf954	850e8a4d-e0f6-4bd6-80f5-1c20e2b0e4f9	g.chr8:89053690C>T	ENST00000286614.6	-	10	2104	c.1823G>A	c.(1822-1824)tGa>tAa	p.*608*		NM_005941.4	NP_005932.2	P51512	MMP16_HUMAN	matrix metallopeptidase 16 (membrane-inserted)	0					chondrocyte proliferation (GO:0035988)|collagen catabolic process (GO:0030574)|craniofacial suture morphogenesis (GO:0097094)|embryonic cranial skeleton morphogenesis (GO:0048701)|endochondral ossification (GO:0001958)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|positive regulation of catalytic activity (GO:0043085)	Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|enzyme activator activity (GO:0008047)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.*608*(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|liver(1)|lung(51)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	81					Marimastat(DB00786)	AACCCTACATCACACCCACTC	0.433																																						uc003yeb.3																			1	Substitution - coding silent(1)		lung(1)	upper_aerodigestive_tract(2)|ovary(2)|central_nervous_system(1)|urinary_tract(1)|skin(1)|kidney(1)	8						c.(1822-1824)TGA>TAA		matrix metalloproteinase 16 isoform 1							117.0	117.0	117.0					8																	89053690		2203	4300	6503	SO:0001819	synonymous_variant	4325				collagen catabolic process|proteolysis	cell surface|integral to plasma membrane|proteinaceous extracellular matrix	calcium ion binding|enzyme activator activity|metalloendopeptidase activity|zinc ion binding	g.chr8:89053690C>T	D85511	CCDS6246.1	8q21	2009-01-09	2005-08-08		ENSG00000156103	ENSG00000156103			7162	protein-coding gene	gene with protein product		602262	"""matrix metalloproteinase 16 (membrane-inserted)"", ""chromosome 8 open reading frame 57"""	C8orf57		7559440	Standard	NM_005941		Approved	MT3-MMP, DKFZp761D112	uc003yeb.4	P51512	OTTHUMG00000163769	ENST00000286614.6:c.1823G>A	8.37:g.89053690C>T							p.*608*	NM_005941	NP_005932	P51512	MMP16_HUMAN			10	2105	-			608					B2RAN7|Q14824|Q52H48	Silent	SNP	ENST00000286614.6	37	c.1823G>A	CCDS6246.1																																																																																				PASS	0.433	MMP16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375304.2	NM_005941		54	129	54	129	---	---	---	---
MMP16	4325	broad.mit.edu	37	8	89339430	89339430	+	Silent	SNP	G	G	T			TCGA-22-4595-01A-01D-1267-08	TCGA-22-4595-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7fcf5123-2d1b-4666-9d39-a1aaf63cf954	850e8a4d-e0f6-4bd6-80f5-1c20e2b0e4f9	g.chr8:89339430G>T	ENST00000286614.6	-	1	287	c.6C>A	c.(4-6)atC>atA	p.I2I	RP11-586K2.1_ENST00000521433.1_RNA|MMP16_ENST00000544227.1_5'UTR|RP11-586K2.1_ENST00000523254.1_RNA|RP11-586K2.1_ENST00000520849.1_RNA	NM_005941.4	NP_005932.2	P51512	MMP16_HUMAN	matrix metallopeptidase 16 (membrane-inserted)	2					chondrocyte proliferation (GO:0035988)|collagen catabolic process (GO:0030574)|craniofacial suture morphogenesis (GO:0097094)|embryonic cranial skeleton morphogenesis (GO:0048701)|endochondral ossification (GO:0001958)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|positive regulation of catalytic activity (GO:0043085)	Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|enzyme activator activity (GO:0008047)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.I2I(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|liver(1)|lung(51)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	81					Marimastat(DB00786)	ATGTGAGTAAGATCATAGTGA	0.473																																						uc003yeb.3																			1	Substitution - coding silent(1)		lung(1)	upper_aerodigestive_tract(2)|ovary(2)|central_nervous_system(1)|urinary_tract(1)|skin(1)|kidney(1)	8						c.(4-6)ATC>ATA		matrix metalloproteinase 16 isoform 1							167.0	149.0	155.0					8																	89339430		2203	4300	6503	SO:0001819	synonymous_variant	4325				collagen catabolic process|proteolysis	cell surface|integral to plasma membrane|proteinaceous extracellular matrix	calcium ion binding|enzyme activator activity|metalloendopeptidase activity|zinc ion binding	g.chr8:89339430G>T	D85511	CCDS6246.1	8q21	2009-01-09	2005-08-08		ENSG00000156103	ENSG00000156103			7162	protein-coding gene	gene with protein product		602262	"""matrix metalloproteinase 16 (membrane-inserted)"", ""chromosome 8 open reading frame 57"""	C8orf57		7559440	Standard	NM_005941		Approved	MT3-MMP, DKFZp761D112	uc003yeb.4	P51512	OTTHUMG00000163769	ENST00000286614.6:c.6C>A	8.37:g.89339430G>T						MMP16_uc003yec.2_Silent_p.I2I	p.I2I	NM_005941	NP_005932	P51512	MMP16_HUMAN			1	288	-			2					B2RAN7|Q14824|Q52H48	Silent	SNP	ENST00000286614.6	37	c.6C>A	CCDS6246.1																																																																																				PASS	0.473	MMP16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375304.2	NM_005941		70	240	70	240	---	---	---	---
ESRP1	54845	broad.mit.edu	37	8	95686605	95686605	+	Missense_Mutation	SNP	T	T	C			TCGA-22-4595-01A-01D-1267-08	TCGA-22-4595-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7fcf5123-2d1b-4666-9d39-a1aaf63cf954	850e8a4d-e0f6-4bd6-80f5-1c20e2b0e4f9	g.chr8:95686605T>C	ENST00000433389.2	+	12	1712	c.1522T>C	c.(1522-1524)Tgt>Cgt	p.C508R	ESRP1_ENST00000454170.2_Missense_Mutation_p.C508R|ESRP1_ENST00000358397.5_Missense_Mutation_p.C508R|ESRP1_ENST00000423620.2_Missense_Mutation_p.C508R	NM_001034915.2|NM_017697.3	NP_001030087.2|NP_060167.2	Q6NXG1	ESRP1_HUMAN	epithelial splicing regulatory protein 1	508	RRM 3. {ECO:0000255|PROSITE- ProRule:PRU00176}.				mRNA processing (GO:0006397)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)	nucleus (GO:0005634)	mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)	p.C508R(2)	ESRP1/RAF1(4)	NS(1)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(6)|prostate(1)|urinary_tract(2)	20						TGCACAGAAGTGTCATAAAAA	0.433																																						uc003ygq.3																		ESRP1/RAF1(4)	2	Substitution - Missense(2)		lung(2)	prostate(4)	4						c.(1522-1524)TGT>CGT		RNA binding motif protein 35A isoform 1							87.0	89.0	88.0					8																	95686605		1888	4122	6010	SO:0001583	missense	54845				mRNA processing|regulation of RNA splicing|RNA splicing	nucleus|plasma membrane	mRNA binding|nucleotide binding	g.chr8:95686605T>C	AK000178	CCDS47895.1, CCDS47896.1, CCDS47897.1, CCDS47898.1	8q22.1	2013-02-12	2009-03-10	2009-03-10	ENSG00000104413	ENSG00000104413		"""RNA binding motif (RRM) containing"""	25966	protein-coding gene	gene with protein product		612959	"""RNA binding motif protein 35A"""	RBM35A		12477932	Standard	NM_017697		Approved	FLJ20171	uc003ygq.4	Q6NXG1	OTTHUMG00000164587	ENST00000433389.2:c.1522T>C	8.37:g.95686605T>C	ENSP00000405738:p.Cys508Arg					ESRP1_uc003ygr.3_Missense_Mutation_p.C508R|ESRP1_uc003ygs.3_Missense_Mutation_p.C508R|ESRP1_uc003ygt.3_Missense_Mutation_p.C508R|ESRP1_uc003ygu.3_Missense_Mutation_p.C508R|ESRP1_uc003ygv.2_Missense_Mutation_p.C348R|ESRP1_uc003ygw.2_Missense_Mutation_p.C348R	p.C508R	NM_017697	NP_060167	Q6NXG1	ESRP1_HUMAN			12	1705	+			508			RRM 3.		A6NHA8|A8MPX1|E9PB47|Q2M2B0|Q499G3|Q6PJ86|Q9NXL8	Missense_Mutation	SNP	ENST00000433389.2	37	c.1522T>C	CCDS47897.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	6.391|6.391	0.440186|0.440186	0.12104|0.12104	.|.	.|.	ENSG00000104413|ENSG00000104413	ENST00000423620;ENST00000433389;ENST00000358397;ENST00000454170;ENST00000517610|ENST00000519505	T;T;T;T;T|.	0.07800|.	3.16;3.16;3.16;3.42;3.16|.	5.54|5.54	5.54|5.54	0.83059|0.83059	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (1);|.	0.248894|.	0.47852|.	D|.	0.000209|.	T|T	0.54382|0.54382	0.1855|0.1855	N|N	0.25485|0.25485	0.75|0.75	0.80722|0.80722	D|D	1|1	P;D;B;B;B;P|.	0.58268|.	0.599;0.982;0.013;0.044;0.097;0.67|.	P;D;B;B;B;P|.	0.65684|.	0.574;0.937;0.036;0.101;0.061;0.516|.	T|T	0.50874|0.50874	-0.8776|-0.8776	10|5	0.05525|.	T|.	0.97|.	-4.2329|-4.2329	15.9843|15.9843	0.80138|0.80138	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	508;508;508;508;508;508|.	D7PBN3;Q6NXG1-4;Q6NXG1-2;E9PB47;Q6NXG1-3;Q6NXG1|.	.;.;.;.;.;ESRP1_HUMAN|.	R|A	508;508;508;508;367|373	ENSP00000407349:C508R;ENSP00000405738:C508R;ENSP00000351168:C508R;ENSP00000402766:C508R;ENSP00000429125:C367R|.	ENSP00000351168:C508R|.	C|V	+|+	1|2	0|0	ESRP1|ESRP1	95755781|95755781	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	4.911000|4.911000	0.63328|0.63328	2.228000|2.228000	0.72767|0.72767	0.533000|0.533000	0.62120|0.62120	TGT|GTG		PASS	0.433	ESRP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000379326.1	NM_017697		31	91	31	91	---	---	---	---
ATP6V1C1	528	broad.mit.edu	37	8	104075191	104075191	+	Missense_Mutation	SNP	C	C	T			TCGA-22-4595-01A-01D-1267-08	TCGA-22-4595-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7fcf5123-2d1b-4666-9d39-a1aaf63cf954	850e8a4d-e0f6-4bd6-80f5-1c20e2b0e4f9	g.chr8:104075191C>T	ENST00000395862.3	+	9	809	c.650C>T	c.(649-651)tCa>tTa	p.S217L	ATP6V1C1_ENST00000518857.1_Missense_Mutation_p.S142L|ATP6V1C1_ENST00000518738.1_Missense_Mutation_p.S217L|ATP6V1C1_ENST00000521514.1_Missense_Mutation_p.S142L	NM_001695.4	NP_001686.1	P21283	VATC1_HUMAN	ATPase, H+ transporting, lysosomal 42kDa, V1 subunit C1	217					ATP hydrolysis coupled proton transport (GO:0015991)|cellular iron ion homeostasis (GO:0006879)|insulin receptor signaling pathway (GO:0008286)|interaction with host (GO:0051701)|phagosome maturation (GO:0090382)|proton transport (GO:0015992)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)	apical part of cell (GO:0045177)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)|proton-transporting two-sector ATPase complex (GO:0016469)|proton-transporting V-type ATPase, V1 domain (GO:0033180)	hydrogen-exporting ATPase activity, phosphorylative mechanism (GO:0008553)|proton-transporting ATPase activity, rotational mechanism (GO:0046961)|transporter activity (GO:0005215)	p.S217L(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(6)|urinary_tract(1)	13	Lung NSC(17;0.000427)|all_lung(17;0.000533)		OV - Ovarian serous cystadenocarcinoma(57;3.57e-05)|STAD - Stomach adenocarcinoma(118;0.133)			AGTGTTCTTTCAGAGGACCAA	0.348																																						uc003ykz.3																			1	Substitution - Missense(1)		lung(1)		0						c.(649-651)TCA>TTA		ATPase, H+ transporting, lysosomal V1 subunit							75.0	78.0	77.0					8																	104075191		2203	4300	6503	SO:0001583	missense	528				ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	cytosol|plasma membrane|proton-transporting V-type ATPase, V1 domain	protein binding|proton-transporting ATPase activity, rotational mechanism	g.chr8:104075191C>T	X69151	CCDS6296.1	8p22.3	2011-05-24	2006-01-13	2002-05-10	ENSG00000155097	ENSG00000155097	3.6.3.14	"""ATPases / V-type"""	856	protein-coding gene	gene with protein product		603097	"""ATPase, H+ transporting, lysosomal (vacuolar proton pump) 42kD"", ""ATPase, H+ transporting, lysosomal 42kDa, V1 subunit C, isoform 1"""	ATP6D, ATP6C		8250920, 14580332	Standard	NM_001695		Approved	VATC, Vma5	uc003ykz.4	P21283	OTTHUMG00000164761	ENST00000395862.3:c.650C>T	8.37:g.104075191C>T	ENSP00000379203:p.Ser217Leu					ATP6V1C1_uc010mbz.2_Missense_Mutation_p.S142L|ATP6V1C1_uc003yla.2_Missense_Mutation_p.S217L|ATP6V1C1_uc011lhl.1_Missense_Mutation_p.S142L	p.S217L	NM_001695	NP_001686	P21283	VATC1_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;3.57e-05)|STAD - Stomach adenocarcinoma(118;0.133)		9	895	+	Lung NSC(17;0.000427)|all_lung(17;0.000533)		217						Missense_Mutation	SNP	ENST00000395862.3	37	c.650C>T	CCDS6296.1	.	.	.	.	.	.	.	.	.	.	C	9.605	1.129639	0.21041	.	.	ENSG00000155097	ENST00000518857;ENST00000395862;ENST00000521514;ENST00000518738	T;T;T;T	0.44083	0.93;0.93;0.93;0.93	5.24	5.24	0.73138	.	0.190554	0.46442	D	0.000298	T	0.29126	0.0724	L	0.31752	0.955	0.44937	D	0.997958	B	0.06786	0.001	B	0.13407	0.009	T	0.08764	-1.0706	10	0.10636	T	0.68	.	12.6411	0.56711	0.0:0.9137:0.0:0.0863	.	217	P21283	VATC1_HUMAN	L	142;217;142;217	ENSP00000428204:S142L;ENSP00000379203:S217L;ENSP00000430129:S142L;ENSP00000430282:S217L	ENSP00000379203:S217L	S	+	2	0	ATP6V1C1	104144367	1.000000	0.71417	0.998000	0.56505	0.849000	0.48306	4.292000	0.59031	2.442000	0.82660	0.655000	0.94253	TCA		PASS	0.348	ATP6V1C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380101.1	NM_001695		46	139	46	139	---	---	---	---
TAF2	6873	broad.mit.edu	37	8	120770319	120770319	+	Missense_Mutation	SNP	T	T	G			TCGA-22-4595-01A-01D-1267-08	TCGA-22-4595-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7fcf5123-2d1b-4666-9d39-a1aaf63cf954	850e8a4d-e0f6-4bd6-80f5-1c20e2b0e4f9	g.chr8:120770319T>G	ENST00000378164.2	-	21	3060	c.2762A>C	c.(2761-2763)tAt>tCt	p.Y921S	TAF2_ENST00000519355.1_5'UTR	NM_003184.3	NP_003175	Q6P1X5	TAF2_HUMAN	TAF2 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 150kDa	921					G2/M transition of mitotic cell cycle (GO:0000086)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to organic cyclic compound (GO:0014070)|transcription initiation from RNA polymerase II promoter (GO:0006367)	transcription factor TFIID complex (GO:0005669)|transcription factor TFTC complex (GO:0033276)	metallopeptidase activity (GO:0008237)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)	p.Y921S(2)		NS(2)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(21)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	49	Lung NSC(37;9.35e-07)|Ovarian(258;0.011)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00185)			TAACCTTACATAGGGTACAGG	0.289																																						uc003you.2																			2	Substitution - Missense(2)		lung(2)	large_intestine(2)|ovary(2)|kidney(1)|skin(1)	6						c.(2761-2763)TAT>TCT		TBP-associated factor 2							146.0	149.0	148.0					8																	120770319		2203	4299	6502	SO:0001583	missense	6873				G2/M transition of mitotic cell cycle|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	transcription factor TFIID complex|transcription factor TFTC complex	metallopeptidase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding	g.chr8:120770319T>G	AF040701	CCDS34937.1	8q24	2012-07-18	2002-08-29	2001-12-07	ENSG00000064313	ENSG00000064313			11536	protein-coding gene	gene with protein product		604912	"""TATA box binding protein (TBP)-associated factor, RNA polymerase II, B, 150kD"""	TAF2B		9774672, 9418870	Standard	NM_003184		Approved	TAFII150, CIF150	uc003you.3	Q6P1X5	OTTHUMG00000165009	ENST00000378164.2:c.2762A>C	8.37:g.120770319T>G	ENSP00000367406:p.Tyr921Ser						p.Y921S	NM_003184	NP_003175	Q6P1X5	TAF2_HUMAN	STAD - Stomach adenocarcinoma(47;0.00185)		21	3032	-	Lung NSC(37;9.35e-07)|Ovarian(258;0.011)|Hepatocellular(40;0.161)		921					B2RE82|O43487|O43604|O60668|Q86WW7|Q8IWK4	Missense_Mutation	SNP	ENST00000378164.2	37	c.2762A>C	CCDS34937.1	.	.	.	.	.	.	.	.	.	.	T	16.33	3.092650	0.56075	.	.	ENSG00000064313	ENST00000378164;ENST00000529653	T;T	0.41758	0.99;0.99	5.66	5.66	0.87406	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.32941	0.0846	L	0.31664	0.95	0.80722	D	1	B	0.06786	0.001	B	0.04013	0.001	T	0.07693	-1.0759	10	0.23891	T	0.37	-25.1792	15.8975	0.79346	0.0:0.0:0.0:1.0	.	921	Q6P1X5	TAF2_HUMAN	S	921;45	ENSP00000367406:Y921S;ENSP00000436750:Y45S	ENSP00000367406:Y921S	Y	-	2	0	TAF2	120839500	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.571000	0.82399	2.145000	0.66743	0.528000	0.53228	TAT		PASS	0.289	TAF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381436.1	NM_003184		4	152	4	152	---	---	---	---
KIAA0196	9897	broad.mit.edu	37	8	126079900	126079900	+	Silent	SNP	C	C	T			TCGA-22-4595-01A-01D-1267-08	TCGA-22-4595-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7fcf5123-2d1b-4666-9d39-a1aaf63cf954	850e8a4d-e0f6-4bd6-80f5-1c20e2b0e4f9	g.chr8:126079900C>T	ENST00000318410.7	-	10	1561	c.1212G>A	c.(1210-1212)cgG>cgA	p.R404R	KIAA0196_ENST00000517845.1_Silent_p.R256R	NM_014846.3	NP_055661.3	Q12768	STRUM_HUMAN	KIAA0196	404					cell death (GO:0008219)|endosomal transport (GO:0016197)	endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|WASH complex (GO:0071203)		p.R404R(1)		NS(1)|breast(3)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	42	Ovarian(258;0.0028)|all_neural(195;0.00294)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.000918)|COAD - Colon adenocarcinoma(160;0.205)			TGGGATTGTACCGAGAGTCTG	0.398																																						uc003yrt.2																			1	Substitution - coding silent(1)		lung(1)	ovary(2)	2						c.(1210-1212)CGG>CGA		strumpellin							202.0	186.0	192.0					8																	126079900		2203	4300	6503	SO:0001819	synonymous_variant	9897				cell death	WASH complex		g.chr8:126079900C>T		CCDS6355.1	8q24.13	2014-05-09			ENSG00000164961	ENSG00000164961			28984	protein-coding gene	gene with protein product	"""strumpellin"""	610657	"""spastic paraplegia 8 (autosomal dominant)"""	SPG8		9973294, 17160902, 23085491	Standard	NM_014846		Approved		uc003yrt.3	Q12768	OTTHUMG00000164991	ENST00000318410.7:c.1212G>A	8.37:g.126079900C>T						KIAA0196_uc011lir.1_Silent_p.R256R|KIAA0196_uc003yru.1_5'UTR	p.R404R	NM_014846	NP_055661	Q12768	STRUM_HUMAN	STAD - Stomach adenocarcinoma(47;0.000918)|COAD - Colon adenocarcinoma(160;0.205)		10	1541	-	Ovarian(258;0.0028)|all_neural(195;0.00294)|Hepatocellular(40;0.108)		404					A8K4R7|Q3KQX5|Q8TBQ2	Silent	SNP	ENST00000318410.7	37	c.1212G>A	CCDS6355.1	.	.	.	.	.	.	.	.	.	.	C	10.35	1.324726	0.24080	.	.	ENSG00000164961	ENST00000523273	.	.	.	5.61	3.76	0.43208	.	.	.	.	.	T	0.62429	0.2427	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.58567	-0.7614	4	.	.	.	-9.427	11.6437	0.51249	0.0:0.8508:0.0:0.1492	.	.	.	.	D	21	.	.	G	-	2	0	KIAA0196	126149082	1.000000	0.71417	0.976000	0.42696	0.969000	0.65631	1.242000	0.32755	0.682000	0.31407	0.491000	0.48974	GGT		PASS	0.398	KIAA0196-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381369.1	NM_014846		7	188	7	188	---	---	---	---
ADCY8	114	broad.mit.edu	37	8	131792811	131792811	+	Missense_Mutation	SNP	G	G	C			TCGA-22-4595-01A-01D-1267-08	TCGA-22-4595-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7fcf5123-2d1b-4666-9d39-a1aaf63cf954	850e8a4d-e0f6-4bd6-80f5-1c20e2b0e4f9	g.chr8:131792811G>C	ENST00000286355.5	-	18	5673	c.3581C>G	c.(3580-3582)gCg>gGg	p.A1194G	ADCY8_ENST00000377928.3_Missense_Mutation_p.A1063G	NM_001115.2	NP_001106.1	P40145	ADCY8_HUMAN	adenylate cyclase 8 (brain)	1194					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|learning or memory (GO:0007611)|long-term memory (GO:0007616)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|calcium- and calmodulin-responsive adenylate cyclase activity (GO:0008294)|metal ion binding (GO:0046872)	p.A1194G(1)		NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(21)|lung(67)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(5)|urinary_tract(2)	134	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000538)			CAGGACAACCGCGGCCAGGGA	0.507										HNSCC(32;0.087)																												uc003ytd.3																			1	Substitution - Missense(1)		lung(1)	skin(4)|large_intestine(1)|central_nervous_system(1)	6						c.(3580-3582)GCG>GGG		adenylate cyclase 8							145.0	144.0	145.0					8																	131792811		2203	4300	6503	SO:0001583	missense	114				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|membrane fraction|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|metal ion binding	g.chr8:131792811G>C	Z35309	CCDS6363.1	8q24	2013-02-04			ENSG00000155897	ENSG00000155897	4.6.1.1	"""Adenylate cyclases"""	239	protein-coding gene	gene with protein product		103070		ADCY3		8076676	Standard	NM_001115		Approved	HBAC1, AC8	uc003ytd.4	P40145	OTTHUMG00000164756	ENST00000286355.5:c.3581C>G	8.37:g.131792811G>C	ENSP00000286355:p.Ala1194Gly	HNSCC(32;0.087)				ADCY8_uc010mds.2_Missense_Mutation_p.A1063G	p.A1194G	NM_001115	NP_001106	P40145	ADCY8_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.000538)		18	3837	-	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)		1194			Cytoplasmic (Potential).			Missense_Mutation	SNP	ENST00000286355.5	37	c.3581C>G	CCDS6363.1	.	.	.	.	.	.	.	.	.	.	G	22.4	4.287517	0.80803	.	.	ENSG00000155897	ENST00000286355;ENST00000377928	T;T	0.79141	-1.24;-1.23	5.68	5.68	0.88126	.	0.062950	0.64402	D	0.000010	T	0.79441	0.4446	N	0.24115	0.695	0.39133	D	0.961896	D;D	0.67145	0.996;0.992	P;P	0.60473	0.875;0.758	T	0.81963	-0.0692	10	0.54805	T	0.06	.	16.9518	0.86247	0.0:0.0:1.0:0.0	.	1063;1194	E7EVL1;P40145	.;ADCY8_HUMAN	G	1194;1063	ENSP00000286355:A1194G;ENSP00000367161:A1063G	ENSP00000286355:A1194G	A	-	2	0	ADCY8	131861993	1.000000	0.71417	0.938000	0.37757	0.771000	0.43674	7.833000	0.86765	2.689000	0.91719	0.655000	0.94253	GCG		PASS	0.507	ADCY8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380080.1			32	75	32	75	---	---	---	---
KCNQ3	3786	broad.mit.edu	37	8	133141622	133141622	+	Missense_Mutation	SNP	C	C	A			TCGA-22-4595-01A-01D-1267-08	TCGA-22-4595-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7fcf5123-2d1b-4666-9d39-a1aaf63cf954	850e8a4d-e0f6-4bd6-80f5-1c20e2b0e4f9	g.chr8:133141622C>A	ENST00000388996.4	-	15	2926	c.2506G>T	c.(2506-2508)Ggt>Tgt	p.G836C	KCNQ3_ENST00000519445.1_Missense_Mutation_p.G824C|KCNQ3_ENST00000521134.1_Missense_Mutation_p.G716C	NM_004519.3	NP_004510.1	O43525	KCNQ3_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 3	836					axon guidance (GO:0007411)|membrane hyperpolarization (GO:0060081)|potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268)	axon initial segment (GO:0043194)|node of Ranvier (GO:0033268)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|potassium channel activity (GO:0005267)|voltage-gated potassium channel activity (GO:0005249)	p.G836C(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	70	Esophageal squamous(12;0.00507)|Ovarian(258;0.00579)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000311)		Amitriptyline(DB00321)|Diclofenac(DB00586)|Ezogabine(DB04953)|Meclofenamic acid(DB00939)	TCCGTCTCACCCTCGGCGAGG	0.592																																						uc003ytj.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|breast(1)|central_nervous_system(1)|skin(1)	5						c.(2506-2508)GGT>TGT		potassium voltage-gated channel KQT-like protein							82.0	70.0	74.0					8																	133141622		2203	4300	6503	SO:0001583	missense	3786				axon guidance|synaptic transmission	voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr8:133141622C>A	AB208890	CCDS34943.1, CCDS56554.1	8q24	2012-07-05			ENSG00000184156	ENSG00000184156		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6297	protein-coding gene	gene with protein product		602232		EBN2		9425900, 16382104	Standard	NM_004519		Approved	Kv7.3	uc003ytj.3	O43525	OTTHUMG00000137472	ENST00000388996.4:c.2506G>T	8.37:g.133141622C>A	ENSP00000373648:p.Gly836Cys					KCNQ3_uc010mdt.2_Missense_Mutation_p.G824C|uc003yti.2_5'Flank	p.G836C	NM_004519	NP_004510	O43525	KCNQ3_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.000311)		15	2731	-	Esophageal squamous(12;0.00507)|Ovarian(258;0.00579)|Acute lymphoblastic leukemia(118;0.155)		836					A2VCT8|B4DJY4|E7EQ89	Missense_Mutation	SNP	ENST00000388996.4	37	c.2506G>T	CCDS34943.1	.	.	.	.	.	.	.	.	.	.	C	24.6	4.552332	0.86127	.	.	ENSG00000184156	ENST00000388996;ENST00000521134;ENST00000519445;ENST00000542679;ENST00000423790	T;T;T	0.67345	-0.26;-0.26;-0.26	5.63	5.63	0.86233	.	0.000000	0.85682	D	0.000000	T	0.80385	0.4613	L	0.59436	1.845	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.81167	-0.1056	10	0.72032	D	0.01	-14.4864	18.678	0.91535	0.0:1.0:0.0:0.0	.	824;836	E7ET42;O43525	.;KCNQ3_HUMAN	C	836;716;824;813;715	ENSP00000373648:G836C;ENSP00000429799:G716C;ENSP00000428790:G824C	ENSP00000373648:G836C	G	-	1	0	KCNQ3	133210804	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.294000	0.78760	2.669000	0.90835	0.655000	0.94253	GGT		PASS	0.592	KCNQ3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268621.2	NM_004519		21	50	21	50	---	---	---	---
COL22A1	169044	broad.mit.edu	37	8	139838949	139838949	+	Silent	SNP	C	C	T			TCGA-22-4595-01A-01D-1267-08	TCGA-22-4595-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7fcf5123-2d1b-4666-9d39-a1aaf63cf954	850e8a4d-e0f6-4bd6-80f5-1c20e2b0e4f9	g.chr8:139838949C>T	ENST00000303045.6	-	6	1367	c.921G>A	c.(919-921)aaG>aaA	p.K307K	COL22A1_ENST00000435777.1_Silent_p.K307K	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	307	Laminin G-like.				extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)		p.K307K(2)		breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)			ACCAGTCTTCCTTCCGAGAGG	0.507										HNSCC(7;0.00092)																												uc003yvd.2																			2	Substitution - coding silent(2)		lung(1)|endometrium(1)	ovary(11)|pancreas(1)|skin(1)	13						c.(919-921)AAG>AAA		collagen, type XXII, alpha 1							155.0	127.0	136.0					8																	139838949		2203	4300	6503	SO:0001819	synonymous_variant	169044				cell adhesion	collagen|cytoplasm	structural molecule activity	g.chr8:139838949C>T	AF406780	CCDS6376.1	8q24.3	2013-01-16			ENSG00000169436	ENSG00000169436		"""Collagens"""	22989	protein-coding gene	gene with protein product		610026					Standard	NM_152888		Approved		uc003yvd.3	Q8NFW1	OTTHUMG00000150035	ENST00000303045.6:c.921G>A	8.37:g.139838949C>T		HNSCC(7;0.00092)					p.K307K	NM_152888	NP_690848	Q8NFW1	COMA1_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.0517)		6	1368	-	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		307			TSP N-terminal.		B7ZMH0|C9K0G4|Q8IVT9	Silent	SNP	ENST00000303045.6	37	c.921G>A	CCDS6376.1																																																																																				PASS	0.507	COL22A1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000315905.2	XM_291257		52	94	52	94	---	---	---	---
CYP11B1	1584	broad.mit.edu	37	8	143955799	143955799	+	Missense_Mutation	SNP	G	G	C			TCGA-22-4595-01A-01D-1267-08	TCGA-22-4595-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7fcf5123-2d1b-4666-9d39-a1aaf63cf954	850e8a4d-e0f6-4bd6-80f5-1c20e2b0e4f9	g.chr8:143955799G>C	ENST00000292427.4	-	9	1534	c.1502C>G	c.(1501-1503)gCc>gGc	p.A501G	CYP11B1_ENST00000517471.1_Missense_Mutation_p.A435G|CYP11B1_ENST00000377675.3_Missense_Mutation_p.A572G	NM_000497.3	NP_000488.3	P15538	C11B1_HUMAN	cytochrome P450, family 11, subfamily B, polypeptide 1	501					aldosterone biosynthetic process (GO:0032342)|C21-steroid hormone biosynthetic process (GO:0006700)|cellular response to hormone stimulus (GO:0032870)|cellular response to potassium ion (GO:0035865)|cortisol biosynthetic process (GO:0034651)|glucocorticoid biosynthetic process (GO:0006704)|glucose homeostasis (GO:0042593)|immune response (GO:0006955)|mineralocorticoid biosynthetic process (GO:0006705)|regulation of blood pressure (GO:0008217)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|sterol metabolic process (GO:0016125)|xenobiotic metabolic process (GO:0006805)	mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|steroid 11-beta-monooxygenase activity (GO:0004507)	p.A501G(1)		central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(10)|lung(36)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	67	all_cancers(97;4.74e-11)|all_epithelial(106;2.06e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)				Cimetidine(DB00501)|Clotrimazole(DB00257)|Etomidate(DB00292)|Fluconazole(DB00196)|Hydrocortisone(DB00741)|Ketoconazole(DB01026)|Metoclopramide(DB01233)|Metyrapone(DB01011)|Miconazole(DB01110)|Mitotane(DB00648)|Phenytoin(DB00252)|Spironolactone(DB00421)	TTAGTTGATGGCTCTGAAGGT	0.567									Familial Hyperaldosteronism type I																													uc003yxi.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)	3						c.(1501-1503)GCC>GGC		cytochrome P450, family 11, subfamily B,	Mitotane(DB00648)						197.0	159.0	172.0					8																	143955799		2203	4300	6503	SO:0001583	missense	1584	Familial_Hyperaldosteronism_type_I	Familial Cancer Database	Dexamethasone Sensitive Aldosteronism, FH-I	aldosterone biosynthetic process|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|glucose homeostasis|immune response|regulation of blood pressure|response to stress|xenobiotic metabolic process	mitochondrial inner membrane	electron carrier activity|steroid 11-beta-monooxygenase activity	g.chr8:143955799G>C	D16153	CCDS6392.1, CCDS34953.1	8q21-q22	2013-06-19	2003-01-14		ENSG00000160882	ENSG00000160882	1.14.15.4	"""Cytochrome P450s"""	2591	protein-coding gene	gene with protein product	"""steroid 11-beta-monooxygenase"""	610613	"""cytochrome P450, subfamily XIB (steroid 11-beta-hydroxylase), polypeptide 1"""	CYP11B		1303253	Standard	XM_005250807		Approved	P450C11, FHI, CPN1	uc003yxi.3	P15538	OTTHUMG00000164637	ENST00000292427.4:c.1502C>G	8.37:g.143955799G>C	ENSP00000292427:p.Ala501Gly					CYP11B1_uc010mex.2_Missense_Mutation_p.A200G|CYP11B1_uc003yxh.2_Missense_Mutation_p.A151G|CYP11B1_uc003yxj.2_Missense_Mutation_p.A435G|CYP11B1_uc010mey.2_Missense_Mutation_p.A572G	p.A501G	NM_000497	NP_000488	P15538	C11B1_HUMAN			9	1509	-	all_cancers(97;4.74e-11)|all_epithelial(106;2.06e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)		501					Q14095|Q4VAQ8|Q4VAQ9|Q9UML2	Missense_Mutation	SNP	ENST00000292427.4	37	c.1502C>G	CCDS6392.1	.	.	.	.	.	.	.	.	.	.	.	8.413	0.844689	0.16963	.	.	ENSG00000160882	ENST00000519285;ENST00000292427;ENST00000517471;ENST00000377675	T;T;D;T	0.84223	-0.91;-1.02;-1.82;-0.99	4.01	2.12	0.27331	.	0.463730	0.18155	N	0.149972	T	0.74543	0.3730	L	0.42245	1.32	0.09310	N	1	B;B;B;B;P	0.43477	0.415;0.134;0.396;0.376;0.808	B;B;B;B;B	0.33295	0.155;0.05;0.05;0.108;0.161	T	0.66941	-0.5796	10	0.59425	D	0.04	.	8.3689	0.32404	0.2202:0.0:0.7798:0.0	.	572;501;435;501;151	Q4VAR0;Q8TDD0;Q4VAQ9;P15538;Q8N9P8	.;.;.;C11B1_HUMAN;.	G	179;501;435;572	ENSP00000430144:A179G;ENSP00000292427:A501G;ENSP00000428043:A435G;ENSP00000366903:A572G	ENSP00000292427:A501G	A	-	2	0	CYP11B1	143952801	0.031000	0.19500	0.023000	0.16930	0.083000	0.17756	1.604000	0.36804	0.799000	0.34018	0.655000	0.94253	GCC		PASS	0.567	CYP11B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379475.2			7	193	7	193	---	---	---	---
MFSD3	113655	broad.mit.edu	37	8	145737345	145737345	+	IGR	SNP	C	C	T			TCGA-22-4595-01A-01D-1267-08	TCGA-22-4595-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7fcf5123-2d1b-4666-9d39-a1aaf63cf954	850e8a4d-e0f6-4bd6-80f5-1c20e2b0e4f9	g.chr8:145737345C>T	ENST00000301327.4	+	0	1548				CTD-2517M22.17_ENST00000580385.1_RNA|RECQL4_ENST00000428558.2_Silent_p.Q1114Q|RECQL4_ENST00000532237.1_5'UTR	NM_138431.1	NP_612440.1	Q96ES6	MFSD3_HUMAN	major facilitator superfamily domain containing 3						transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)		p.Q1114Q(1)		central_nervous_system(2)|endometrium(1)|kidney(1)|lung(4)	8	all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055)			CTCCCGGCTCCTGCCCTTCCT	0.677																																						uc003zdj.2										N|F|S						osteosarcoma|skin basal and sqamous cell			1	Substitution - coding silent(1)		lung(1)	breast(2)|lung(1)|skin(1)	4						c.(3340-3342)CAG>CAA	Genes_defective_in_diseases_associated_with_sensitivity_to_DNA_damaging_agents	RecQ protein-like 4							24.0	26.0	25.0					8																	145737345		2121	4234	6355	SO:0001628	intergenic_variant	9401	RAPADILINO_syndrome|Rothmund-Thomson_syndrome|Baller-Gerold_syndrome			DNA duplex unwinding|DNA recombination|DNA repair	cytoplasm|nucleus	ATP binding|ATP-dependent 3'-5' DNA helicase activity|bubble DNA binding|DNA strand annealing activity|zinc ion binding	g.chr8:145737345C>T		CCDS6431.1	8q24.3	2005-11-17			ENSG00000167700	ENSG00000167700			25157	protein-coding gene	gene with protein product							Standard	NM_138431		Approved		uc003zdi.1	Q96ES6	OTTHUMG00000165177		8.37:g.145737345C>T							p.Q1114Q	NM_004260	NP_004251	O94761	RECQ4_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055)		20	3374	-	all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		1114						Silent	SNP	ENST00000301327.4	37	c.3342G>A	CCDS6431.1																																																																																				PASS	0.677	MFSD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382478.2	NM_138431		7	21	7	21	---	---	---	---
KIAA1161	57462	broad.mit.edu	37	9	34372105	34372105	+	Silent	SNP	C	C	G			TCGA-22-4595-01A-01D-1267-08	TCGA-22-4595-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7fcf5123-2d1b-4666-9d39-a1aaf63cf954	850e8a4d-e0f6-4bd6-80f5-1c20e2b0e4f9	g.chr9:34372105C>G	ENST00000297625.7	-	2	960	c.735G>C	c.(733-735)ctG>ctC	p.L245L		NM_020702.3	NP_065753.2	Q6NSJ0	K1161_HUMAN	KIAA1161	279					carbohydrate metabolic process (GO:0005975)|positive regulation of insulin-like growth factor receptor signaling pathway (GO:0043568)|positive regulation of protein kinase B signaling (GO:0051897)|skeletal muscle fiber development (GO:0048741)	integral component of membrane (GO:0016021)|nuclear membrane (GO:0031965)	hydrolase activity, hydrolyzing O-glycosyl compounds (GO:0004553)	p.L245L(1)		breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)	12			LUSC - Lung squamous cell carcinoma(29;0.0107)	GBM - Glioblastoma multiforme(74;0.126)		CTCGGTAGCTCAGCTCTGGCG	0.667																																						uc003zue.3																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|breast(1)|central_nervous_system(1)	3						c.(835-837)CTG>CTC		hypothetical protein LOC57462							26.0	30.0	28.0					9																	34372105		2134	4240	6374	SO:0001819	synonymous_variant	57462				carbohydrate metabolic process	integral to membrane	hydrolase activity, hydrolyzing O-glycosyl compounds	g.chr9:34372105C>G	AB032987		9p11.2	2009-11-06			ENSG00000164976	ENSG00000164976			19918	protein-coding gene	gene with protein product						10574461	Standard	XM_006716808		Approved	NET37	uc003zue.4	Q6NSJ0	OTTHUMG00000019816	ENST00000297625.7:c.735G>C	9.37:g.34372105C>G							p.L279L	NM_020702	NP_065753	Q6NSJ0	K1161_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.0107)	GBM - Glioblastoma multiforme(74;0.126)	3	1004	-			279			Extracellular (Potential).		Q5T587|Q5T588|Q9ULQ9	Silent	SNP	ENST00000297625.7	37	c.837G>C																																																																																					PASS	0.667	KIAA1161-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000052158.1	XM_351807		11	48	11	48	---	---	---	---
DNAI1	27019	broad.mit.edu	37	9	34514434	34514434	+	Missense_Mutation	SNP	G	G	A	rs368248592		TCGA-22-4595-01A-01D-1267-08	TCGA-22-4595-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7fcf5123-2d1b-4666-9d39-a1aaf63cf954	850e8a4d-e0f6-4bd6-80f5-1c20e2b0e4f9	g.chr9:34514434G>A	ENST00000242317.4	+	17	1783	c.1612G>A	c.(1612-1614)Gcc>Acc	p.A538T		NM_001281428.1|NM_012144.2	NP_001268357.1|NP_036276.1	Q9UI46	DNAI1_HUMAN	dynein, axonemal, intermediate chain 1	538					cell projection organization (GO:0030030)|epithelial cilium movement (GO:0003351)|metabolic process (GO:0008152)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|dynein complex (GO:0030286)|microtubule (GO:0005874)	motor activity (GO:0003774)	p.A538T(1)		autonomic_ganglia(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(13)|prostate(1)|skin(2)|urinary_tract(1)	34	all_epithelial(49;0.244)		LUSC - Lung squamous cell carcinoma(29;0.0107)|STAD - Stomach adenocarcinoma(86;0.212)	GBM - Glioblastoma multiforme(74;0.0222)		CACCTATGACGCCCACAACAT	0.557									Kartagener syndrome																													uc003zum.2																			1	Substitution - Missense(1)		lung(1)		0	GRCh37	CM066046	DNAI1	M		c.(1612-1614)GCC>ACC		dynein, axonemal, intermediate chain 1							170.0	153.0	159.0					9																	34514434		2203	4300	6503	SO:0001583	missense	27019	Kartagener_syndrome	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	cell projection organization	cilium axoneme|cytoplasm|dynein complex|microtubule	motor activity	g.chr9:34514434G>A	AF091619	CCDS6557.1, CCDS75829.1	9p13.3	2013-02-19	2006-09-04		ENSG00000122735	ENSG00000122735		"""Axonemal dyneins"", ""WD repeat domain containing"""	2954	protein-coding gene	gene with protein product		604366	"""dynein, axonemal, intermediate polypeptide 1"""			10577904, 21953912	Standard	NM_012144		Approved	DIC1, PCD, CILD1	uc003zum.3	Q9UI46	OTTHUMG00000019825	ENST00000242317.4:c.1612G>A	9.37:g.34514434G>A	ENSP00000242317:p.Ala538Thr						p.A538T	NM_012144	NP_036276	Q9UI46	DNAI1_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.0107)|STAD - Stomach adenocarcinoma(86;0.212)	GBM - Glioblastoma multiforme(74;0.0222)	17	1805	+	all_epithelial(49;0.244)		538			WD 3.		B7Z7U1|Q5T8G7|Q8NHQ7|Q9UEZ8	Missense_Mutation	SNP	ENST00000242317.4	37	c.1612G>A	CCDS6557.1	.	.	.	.	.	.	.	.	.	.	G	29.4	5.006424	0.93287	.	.	ENSG00000122735	ENST00000379040;ENST00000242317	T	0.61980	0.06	5.47	5.47	0.80525	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.79240	0.4412	M	0.80508	2.5	0.80722	D	1	D	0.59357	0.985	D	0.69307	0.963	T	0.81701	-0.0813	10	0.72032	D	0.01	.	14.8269	0.70120	0.0:0.0:1.0:0.0	.	538	Q9UI46	DNAI1_HUMAN	T	94;538	ENSP00000242317:A538T	ENSP00000242317:A538T	A	+	1	0	DNAI1	34504434	1.000000	0.71417	1.000000	0.80357	0.783000	0.44284	8.291000	0.89927	2.563000	0.86464	0.561000	0.74099	GCC		PASS	0.557	DNAI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052192.1			87	315	87	315	---	---	---	---
FBXO10	26267	broad.mit.edu	37	9	37541752	37541752	+	Missense_Mutation	SNP	C	C	A	rs529842963		TCGA-22-4595-01A-01D-1267-08	TCGA-22-4595-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7fcf5123-2d1b-4666-9d39-a1aaf63cf954	850e8a4d-e0f6-4bd6-80f5-1c20e2b0e4f9	g.chr9:37541752C>A	ENST00000432825.2	-	2	62	c.14G>T	c.(13-15)gGc>gTc	p.G5V	RP11-613M10.8_ENST00000537239.2_3'UTR|RP11-613M10.8_ENST00000544475.1_5'UTR|FBXO10_ENST00000541829.1_Intron	NM_012166.2	NP_036298.2	Q9UK96	FBX10_HUMAN	F-box protein 10	5	F-box. {ECO:0000255|PROSITE- ProRule:PRU00080}.				apoptotic process (GO:0006915)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|regulation of apoptotic process (GO:0042981)	cytoplasm (GO:0005737)|ubiquitin ligase complex (GO:0000151)	ubiquitin-protein transferase activity (GO:0004842)	p.G5V(1)		breast(1)|endometrium(5)|large_intestine(11)|lung(15)|prostate(1)|upper_aerodigestive_tract(1)	34				GBM - Glioblastoma multiforme(29;0.0107)		CAAGGGGAGGCCACCAGCCTC	0.517																																						uc004aab.2																			1	Substitution - Missense(1)		lung(1)	lung(5)	5						c.(13-15)GGC>GTC		F-box protein 10							24.0	24.0	24.0					9																	37541752		1955	4097	6052	SO:0001583	missense	26267					ubiquitin ligase complex	ubiquitin-protein ligase activity	g.chr9:37541752C>A	AF174598	CCDS47966.1	9p13.1	2014-01-29	2004-06-15		ENSG00000147912	ENSG00000147912		"""F-boxes /  ""other"""""	13589	protein-coding gene	gene with protein product		609092	"""F-box only protein 10"""			10531035, 10531037, 19300908	Standard	NM_012166		Approved	FBX10	uc004aab.3	Q9UK96	OTTHUMG00000019926	ENST00000432825.2:c.14G>T	9.37:g.37541752C>A	ENSP00000403802:p.Gly5Val					FBXO10_uc004aac.2_Missense_Mutation_p.G21V|FBXO10_uc004aad.2_Intron	p.G5V	NM_012166	NP_036298	Q9UK96	FBX10_HUMAN		GBM - Glioblastoma multiforme(29;0.0107)	2	63	-			5			F-box.		Q08AL3|Q08AL4|Q5JRT8|Q9UKC3	Missense_Mutation	SNP	ENST00000432825.2	37	c.14G>T	CCDS47966.1	.	.	.	.	.	.	.	.	.	.	C	17.08	3.297361	0.60086	.	.	ENSG00000147912	ENST00000432825;ENST00000541607	T;T	0.47528	0.84;2.03	5.84	4.94	0.65067	F-box domain, cyclin-like (1);	0.275088	0.42053	D	0.000762	T	0.43456	0.1248	N	0.19112	0.55	0.80722	D	1	P	0.37101	0.582	P	0.45577	0.486	T	0.49341	-0.8950	10	0.87932	D	0	-14.1064	13.7989	0.63188	0.0:0.9253:0.0:0.0747	.	5	Q9UK96	FBX10_HUMAN	V	5	ENSP00000403802:G5V;ENSP00000440061:G5V	ENSP00000276960:G5V	G	-	2	0	FBXO10	37531752	0.937000	0.31787	0.425000	0.26659	0.918000	0.54935	1.383000	0.34385	1.467000	0.48044	0.650000	0.86243	GGC		PASS	0.517	FBXO10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052472.3			13	49	13	49	---	---	---	---
TRPM3	80036	broad.mit.edu	37	9	73296450	73296450	+	Silent	SNP	A	A	G			TCGA-22-4595-01A-01D-1267-08	TCGA-22-4595-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7fcf5123-2d1b-4666-9d39-a1aaf63cf954	850e8a4d-e0f6-4bd6-80f5-1c20e2b0e4f9	g.chr9:73296450A>G	ENST00000377111.2	-	9	1560	c.1317T>C	c.(1315-1317)gaT>gaC	p.D439D	TRPM3_ENST00000396292.4_Silent_p.D311D|TRPM3_ENST00000358082.3_Silent_p.D311D|TRPM3_ENST00000396280.5_Silent_p.D286D|TRPM3_ENST00000408909.2_Silent_p.D286D|TRPM3_ENST00000377106.1_Silent_p.D311D|TRPM3_ENST00000377110.3_Silent_p.D439D|TRPM3_ENST00000357533.2_Silent_p.D441D|TRPM3_ENST00000396285.1_Silent_p.D286D|TRPM3_ENST00000423814.3_Silent_p.D466D|TRPM3_ENST00000360823.2_Silent_p.D311D|TRPM3_ENST00000377105.1_Silent_p.D286D	NM_001007471.2	NP_001007472.2	Q9HCF6	TRPM3_HUMAN	transient receptor potential cation channel, subfamily M, member 3	464					calcium ion transmembrane transport (GO:0070588)|cation transport (GO:0006812)|detection of temperature stimulus (GO:0016048)|ion transmembrane transport (GO:0034220)|sensory perception of temperature stimulus (GO:0050951)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium activated cation channel activity (GO:0005227)|calcium channel activity (GO:0005262)|cation channel activity (GO:0005261)	p.D441D(1)|p.D439D(1)|p.D311D(1)		NS(2)|breast(4)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(18)|liver(1)|lung(46)|ovary(3)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(1)	95						GGATAGCCAAATCAATGTCCT	0.383																																						uc004aid.2																			3	Substitution - coding silent(3)		lung(3)	ovary(3)|pancreas(2)|central_nervous_system(2)|skin(2)	9						c.(1315-1317)GAT>GAC		transient receptor potential cation channel,							181.0	176.0	177.0					9																	73296450		2203	4300	6503	SO:0001819	synonymous_variant	80036					integral to membrane	calcium channel activity	g.chr9:73296450A>G	AB046836	CCDS6634.1, CCDS6635.1, CCDS6636.1, CCDS6637.1, CCDS43835.1, CCDS65064.1	9q21.11	2011-12-14			ENSG00000083067	ENSG00000083067		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	17992	protein-coding gene	gene with protein product	"""melastatin 2"""	608961				16382100	Standard	NM_206946		Approved	KIAA1616, LTRPC3, GON-2	uc004aid.3	Q9HCF6	OTTHUMG00000019997	ENST00000377111.2:c.1317T>C	9.37:g.73296450A>G						TRPM3_uc004ahu.2_Silent_p.D269D|TRPM3_uc004ahv.2_Silent_p.D269D|TRPM3_uc004ahw.2_Silent_p.D311D|TRPM3_uc004ahx.2_Silent_p.D286D|TRPM3_uc004ahy.2_Silent_p.D311D|TRPM3_uc004ahz.2_Silent_p.D286D|TRPM3_uc004aia.2_Silent_p.D286D|TRPM3_uc004aib.2_Silent_p.D286D|TRPM3_uc004aic.2_Silent_p.D439D|TRPM3_uc010mor.2_Silent_p.D439D	p.D439D	NM_001007471	NP_001007472	Q9HCF6	TRPM3_HUMAN			9	1561	-			464			Cytoplasmic (Potential).		A2A3F6|A9Z1Y7|Q5VW02|Q5VW03|Q5VW04|Q5W5T7|Q86SH0|Q86SH6|Q86UL0|Q86WK1|Q86WK2|Q86WK3|Q86WK4|Q86YZ9|Q86Z00|Q86Z01|Q9H0X2	Silent	SNP	ENST00000377111.2	37	c.1317T>C		.	.	.	.	.	.	.	.	.	.	A	9.975	1.226487	0.22542	.	.	ENSG00000083067	ENST00000396280	.	.	.	5.95	4.81	0.61882	.	.	.	.	.	T	0.61426	0.2346	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.58730	-0.7585	4	.	.	.	-21.4057	9.6756	0.40039	0.9205:0.0:0.0795:0.0	.	.	.	.	L	286	.	.	F	-	1	0	TRPM3	72486270	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	1.461000	0.35255	1.078000	0.41014	0.460000	0.39030	TTT		PASS	0.383	TRPM3-007	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000214157.5	NM_206945		35	142	35	142	---	---	---	---
MRPL50	54534	broad.mit.edu	37	9	104160868	104160868	+	Missense_Mutation	SNP	C	C	A			TCGA-22-4595-01A-01D-1267-08	TCGA-22-4595-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7fcf5123-2d1b-4666-9d39-a1aaf63cf954	850e8a4d-e0f6-4bd6-80f5-1c20e2b0e4f9	g.chr9:104160868C>A	ENST00000374865.4	-	1	28	c.7G>T	c.(7-9)Gcg>Tcg	p.A3S	ZNF189_ENST00000374861.3_5'Flank|ZNF189_ENST00000259395.4_5'Flank|MRPL50_ENST00000539624.1_Missense_Mutation_p.A3S|ZNF189_ENST00000339664.2_5'Flank	NM_019051.2	NP_061924.1	Q8N5N7	RM50_HUMAN	mitochondrial ribosomal protein L50	3						mitochondrion (GO:0005739)|ribosome (GO:0005840)		p.A3S(1)		large_intestine(1)|lung(2)|prostate(2)	5		Acute lymphoblastic leukemia(62;0.0559)				ACAGATCGCGCCGCCATCTTC	0.537																																						uc004bbe.2																			1	Substitution - Missense(1)		lung(1)		0						c.(7-9)GCG>TCG		mitochondrial ribosomal protein L50							91.0	82.0	85.0					9																	104160868		2203	4300	6503	SO:0001583	missense	54534					mitochondrion|ribosome		g.chr9:104160868C>A	AK000500	CCDS6753.1	9q31.1	2012-11-14			ENSG00000136897	ENSG00000136897		"""Mitochondrial ribosomal proteins / large subunits"""	16654	protein-coding gene	gene with protein product	"""mitochondrial 39S ribosomal protein L50"""	611854					Standard	NM_019051		Approved	FLJ20493, MRP-L50	uc004bbe.2	Q8N5N7	OTTHUMG00000020384	ENST00000374865.4:c.7G>T	9.37:g.104160868C>A	ENSP00000363999:p.Ala3Ser					MRPL50_uc011lvj.1_Missense_Mutation_p.A3S|ZNF189_uc004bbg.1_5'Flank|ZNF189_uc004bbh.1_5'Flank|ZNF189_uc004bbi.1_5'Flank|ZNF189_uc011lvk.1_5'Flank	p.A3S	NM_019051	NP_061924	Q8N5N7	RM50_HUMAN			1	52	-		Acute lymphoblastic leukemia(62;0.0559)	3					B7Z358|Q5T7E0|Q9NX15	Missense_Mutation	SNP	ENST00000374865.4	37	c.7G>T	CCDS6753.1	.	.	.	.	.	.	.	.	.	.	C	13.05	2.120745	0.37436	.	.	ENSG00000136897	ENST00000374865;ENST00000539624	T	0.52526	0.66	3.99	2.11	0.27256	.	0.258309	0.26349	N	0.024881	T	0.29423	0.0733	L	0.32530	0.975	0.09310	N	1	B;B	0.30068	0.267;0.164	B;B	0.22386	0.039;0.027	T	0.17077	-1.0381	10	0.54805	T	0.06	-1.6326	4.7312	0.12966	0.2143:0.6742:0.0:0.1115	.	3;3	B7Z358;Q8N5N7	.;RM50_HUMAN	S	3	ENSP00000363999:A3S	ENSP00000363999:A3S	A	-	1	0	MRPL50	103200689	0.030000	0.19436	0.080000	0.20451	0.012000	0.07955	1.133000	0.31430	0.637000	0.30526	-0.188000	0.12872	GCG		PASS	0.537	MRPL50-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053450.1	NM_019051		4	137	4	137	---	---	---	---
PRPF4	9128	broad.mit.edu	37	9	116045413	116045413	+	Splice_Site	SNP	A	A	G			TCGA-22-4595-01A-01D-1267-08	TCGA-22-4595-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7fcf5123-2d1b-4666-9d39-a1aaf63cf954	850e8a4d-e0f6-4bd6-80f5-1c20e2b0e4f9	g.chr9:116045413A>G	ENST00000374198.4	+	5	587	c.485A>G	c.(484-486)tAt>tGt	p.Y162C	PRPF4_ENST00000374199.4_Splice_Site_p.Y161C|PRPF4_ENST00000488937.1_3'UTR	NM_001244926.1|NM_004697.4	NP_001231855.1|NP_004688.2	O43172	PRP4_HUMAN	pre-mRNA processing factor 4	162					gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)	Cajal body (GO:0015030)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)|U4/U6 snRNP (GO:0071001)		p.Y162C(1)		NS(1)|breast(2)|endometrium(3)|large_intestine(6)|lung(6)|ovary(2)|pancreas(1)|prostate(2)	23						GCCTTTCAGTATCAGCAAACC	0.408																																						uc004bgx.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|pancreas(1)	3						c.(484-486)TAT>TGT		PRP4 pre-mRNA processing factor 4 homolog							191.0	193.0	192.0					9																	116045413		2203	4300	6503	SO:0001630	splice_region_variant	9128					Cajal body|nuclear speck|spliceosomal complex|U4/U6 snRNP	protein binding	g.chr9:116045413A>G	AF001687	CCDS6791.1, CCDS59142.1	9q31-q33	2013-10-03	2013-10-03		ENSG00000136875	ENSG00000136875		"""WD repeat domain containing"""	17349	protein-coding gene	gene with protein product	"""PRP4/STK/WD splicing factor"", ""U4/U6 small nuclear ribonucleoprotein Prp4"""	607795	"""PRP4 pre-mRNA processing factor 4 homolog (yeast)"""			9257651, 9404889	Standard	NM_004697		Approved	Prp4p, HPRP4, HPRP4P, PRP4, SNRNP60	uc004bgx.3	O43172	OTTHUMG00000020517	ENST00000374198.4:c.484-1A>G	9.37:g.116045413A>G						PRPF4_uc004bgy.2_Missense_Mutation_p.Y161C	p.Y162C	NM_004697	NP_004688	O43172	PRP4_HUMAN			5	535	+			162					O43445|O43864|Q5T1M8|Q96DG2|Q96IK4	Missense_Mutation	SNP	ENST00000374198.4	37	c.485A>G	CCDS6791.1	.	.	.	.	.	.	.	.	.	.	A	13.63	2.293280	0.40594	.	.	ENSG00000136875	ENST00000374199;ENST00000374198	T;T	0.62105	0.05;0.1	5.68	5.68	0.88126	.	0.539636	0.20955	N	0.082668	T	0.44540	0.1298	N	0.08118	0	0.49798	D	0.999826	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.37979	-0.9682	10	0.54805	T	0.06	.	14.7609	0.69604	1.0:0.0:0.0:0.0	.	177;162	Q59EL4;O43172	.;PRP4_HUMAN	C	161;162	ENSP00000363315:Y161C;ENSP00000363313:Y162C	ENSP00000363313:Y162C	Y	+	2	0	PRPF4	115085234	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	4.059000	0.57470	2.161000	0.67846	0.460000	0.39030	TAT		PASS	0.408	PRPF4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000053708.2	NM_004697	Missense_Mutation	104	240	104	240	---	---	---	---
TNC	3371	broad.mit.edu	37	9	117846753	117846753	+	Splice_Site	SNP	T	T	C			TCGA-22-4595-01A-01D-1267-08	TCGA-22-4595-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7fcf5123-2d1b-4666-9d39-a1aaf63cf954	850e8a4d-e0f6-4bd6-80f5-1c20e2b0e4f9	g.chr9:117846753T>C	ENST00000350763.4	-	4	2279		c.e4-2		TNC_ENST00000345230.3_Splice_Site|TNC_ENST00000535648.1_Splice_Site|TNC_ENST00000537320.1_Splice_Site|TNC_ENST00000423613.2_Splice_Site|TNC_ENST00000341037.4_Splice_Site|TNC_ENST00000542877.1_Splice_Site|TNC_ENST00000340094.3_Splice_Site|TNC_ENST00000346706.3_Splice_Site	NM_002160.3	NP_002151.2	P24821	TENA_HUMAN	tenascin C						bud outgrowth involved in lung branching (GO:0060447)|cell adhesion (GO:0007155)|cellular response to prostaglandin D stimulus (GO:0071799)|cellular response to retinoic acid (GO:0071300)|cellular response to vitamin D (GO:0071305)|extracellular matrix organization (GO:0030198)|mesenchymal-epithelial cell signaling involved in prostate gland development (GO:0060739)|negative regulation of cell adhesion (GO:0007162)|neuromuscular junction development (GO:0007528)|odontogenesis of dentin-containing tooth (GO:0042475)|osteoblast differentiation (GO:0001649)|peripheral nervous system axon regeneration (GO:0014012)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|prostate gland epithelium morphogenesis (GO:0060740)|response to ethanol (GO:0045471)|response to fibroblast growth factor (GO:0071774)|response to mechanical stimulus (GO:0009612)|response to wounding (GO:0009611)|wound healing (GO:0042060)	basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|interstitial matrix (GO:0005614)|membrane (GO:0016020)	syndecan binding (GO:0045545)	p.?(1)		NS(3)|breast(5)|central_nervous_system(4)|endometrium(8)|kidney(6)|large_intestine(32)|liver(1)|lung(39)|ovary(1)|pancreas(2)|prostate(5)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	120						GAGGAGACACTGGCAGGAATA	0.502																																						uc004bjj.3																			1	Unknown(1)		lung(1)	central_nervous_system(4)|upper_aerodigestive_tract(1)|ovary(1)|skin(1)	7						c.e4-1		tenascin C precursor							91.0	83.0	86.0					9																	117846753		2203	4300	6503	SO:0001630	splice_region_variant	3371				cell adhesion|response to wounding|signal transduction	extracellular space	receptor binding|syndecan binding	g.chr9:117846753T>C		CCDS6811.1	9q33.1	2014-01-28	2008-07-31	2002-06-07	ENSG00000041982	ENSG00000041982		"""Fibrinogen C domain containing"", ""Fibronectin type III domain containing"""	5318	protein-coding gene	gene with protein product	"""hexabrachion (tenascin)"""	187380	"""hexabrachion (tenascin C, cytotactin)"", ""deafness, autosomal dominant 56"""	HXB, DFNA56		1704365, 1707164, 23936043	Standard	NM_002160		Approved	TN, MGC167029	uc004bjj.4	P24821	OTTHUMG00000021010	ENST00000350763.4:c.1868-2A>G	9.37:g.117846753T>C						TNC_uc010mvf.2_Splice_Site_p.V623_splice	p.V623_splice	NM_002160	NP_002151	P24821	TENA_HUMAN			4	2230	-								C9IYT7|C9J575|C9J6D9|C9J848|Q14583|Q15567|Q5T7S3	Splice_Site	SNP	ENST00000350763.4	37	c.1868_splice	CCDS6811.1	.	.	.	.	.	.	.	.	.	.	T	13.99	2.403030	0.42613	.	.	ENSG00000041982	ENST00000340094;ENST00000535648;ENST00000346706;ENST00000345230;ENST00000350763;ENST00000442945;ENST00000341037;ENST00000423613;ENST00000537320;ENST00000542877	.	.	.	5.93	5.93	0.95920	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.3789	0.83431	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	TNC	116886574	1.000000	0.71417	0.996000	0.52242	0.196000	0.23810	7.698000	0.84413	2.267000	0.75376	0.533000	0.62120	.		PASS	0.502	TNC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055418.2	NM_002160	Intron	35	68	35	68	---	---	---	---
BRINP1	1620	broad.mit.edu	37	9	121971016	121971016	+	Missense_Mutation	SNP	G	G	T			TCGA-22-4595-01A-01D-1267-08	TCGA-22-4595-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7fcf5123-2d1b-4666-9d39-a1aaf63cf954	850e8a4d-e0f6-4bd6-80f5-1c20e2b0e4f9	g.chr9:121971016G>T	ENST00000265922.3	-	7	1587	c.1126C>A	c.(1126-1128)Cac>Aac	p.H376N	BRINP1_ENST00000482797.1_5'UTR	NM_014618.2	NP_055433.2	O60477	BRNP1_HUMAN	bone morphogenetic protein/retinoic acid inducible neural-specific 1	376					cell cycle arrest (GO:0007050)|cell death (GO:0008219)|cellular response to retinoic acid (GO:0071300)|negative regulation of cell cycle (GO:0045786)|negative regulation of mitotic cell cycle (GO:0045930)|positive regulation of neuron differentiation (GO:0045666)	cytoplasm (GO:0005737)		p.H376N(1)									GGCAGCTGGTGGTTGGGATTG	0.552																																						uc004bkc.2																			1	Substitution - Missense(1)		lung(1)	skin(3)|ovary(2)|central_nervous_system(2)|large_intestine(1)	8						c.(1126-1128)CAC>AAC		deleted in bladder cancer 1 precursor							186.0	160.0	169.0					9																	121971016		2203	4300	6503	SO:0001583	missense	1620				cell cycle arrest|cell death	cytoplasm	protein binding	g.chr9:121971016G>T	AF027734	CCDS6822.1	9q32-q33	2013-08-06	2013-08-06	2013-07-31	ENSG00000078725	ENSG00000078725			2687	protein-coding gene	gene with protein product		602865	"""deleted in bladder cancer chromosome region candidate 1"", ""deleted in bladder cancer 1"""	DBCCR1, DBC1		9175739, 10444335, 15193422	Standard	NM_014618		Approved	FAM5A	uc004bkc.2	O60477	OTTHUMG00000021020	ENST00000265922.3:c.1126C>A	9.37:g.121971016G>T	ENSP00000265922:p.His376Asn						p.H376N	NM_014618	NP_055433	O60477	DBC1_HUMAN			7	1582	-			376					Q6IPV6|Q6P1A0|Q8WU22	Missense_Mutation	SNP	ENST00000265922.3	37	c.1126C>A	CCDS6822.1	.	.	.	.	.	.	.	.	.	.	G	22.8	4.343497	0.82022	.	.	ENSG00000078725	ENST00000373969;ENST00000265922	T	0.13901	2.55	5.61	5.61	0.85477	.	0.000000	0.85682	D	0.000000	T	0.27900	0.0687	L	0.44542	1.39	0.80722	D	1	P	0.45126	0.851	P	0.55391	0.775	T	0.00206	-1.1921	10	0.66056	D	0.02	-30.1688	18.63	0.91357	0.0:0.0:1.0:0.0	.	376	O60477	DBC1_HUMAN	N	376	ENSP00000265922:H376N	ENSP00000265922:H376N	H	-	1	0	DBC1	121010837	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.632000	0.83247	2.629000	0.89072	0.650000	0.86243	CAC		PASS	0.552	BRINP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055440.2	NM_014618		18	72	18	72	---	---	---	---
CDK5RAP2	55755	broad.mit.edu	37	9	123330665	123330665	+	Splice_Site	SNP	C	C	T			TCGA-22-4595-01A-01D-1267-08	TCGA-22-4595-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7fcf5123-2d1b-4666-9d39-a1aaf63cf954	850e8a4d-e0f6-4bd6-80f5-1c20e2b0e4f9	g.chr9:123330665C>T	ENST00000349780.4	-	3	308	c.129G>A	c.(127-129)ctG>ctA	p.L43L	CDK5RAP2_ENST00000360822.3_Splice_Site_p.L43L|CDK5RAP2_ENST00000360190.4_Splice_Site_p.L43L|CDK5RAP2_ENST00000359309.3_Splice_Site_p.L43L	NM_018249.4	NP_060719.4	Q96SN8	CK5P2_HUMAN	CDK5 regulatory subunit associated protein 2	43				L -> V (in Ref. 3; AAP41926). {ECO:0000305}.	brain development (GO:0007420)|centrosome organization (GO:0051297)|chromosome segregation (GO:0007059)|establishment of mitotic spindle orientation (GO:0000132)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule bundle formation (GO:0001578)|microtubule cytoskeleton organization (GO:0000226)|mitotic cell cycle (GO:0000278)|negative regulation of centriole replication (GO:0046600)|negative regulation of neuron differentiation (GO:0045665)|neurogenesis (GO:0022008)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of neuron differentiation (GO:0045664)|regulation of spindle checkpoint (GO:0090231)	cell junction (GO:0030054)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|pericentriolar material (GO:0000242)|perinuclear region of cytoplasm (GO:0048471)|spindle pole (GO:0000922)	calmodulin binding (GO:0005516)|microtubule binding (GO:0008017)|protein kinase binding (GO:0019901)|transcription regulatory region DNA binding (GO:0044212)|tubulin binding (GO:0015631)	p.L43L(1)		breast(6)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(12)|lung(21)|ovary(2)|prostate(2)|skin(6)|urinary_tract(1)	58						CATTTGGGAGCACTGTAAAAA	0.438																																						uc004bkf.2																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|lung(1)|skin(1)	4						c.(127-129)CTG>CTA		CDK5 regulatory subunit associated protein 2							165.0	151.0	156.0					9																	123330665		2203	4300	6503	SO:0001630	splice_region_variant	55755				brain development|centrosome organization|chromosome segregation|G2/M transition of mitotic cell cycle|microtubule bundle formation|negative regulation of centriole replication|positive regulation of transcription, DNA-dependent|regulation of neuron differentiation|regulation of spindle checkpoint	cytosol|Golgi apparatus|microtubule|pericentriolar material|perinuclear region of cytoplasm|spindle pole	calmodulin binding|microtubule binding|neuronal Cdc2-like kinase binding|transcription regulatory region DNA binding	g.chr9:123330665C>T	BK005504	CCDS6823.1, CCDS43871.1, CCDS75888.1	9q33.3	2014-02-21			ENSG00000136861	ENSG00000136861			18672	protein-coding gene	gene with protein product	"""centrosomin"""	608201	"""microcephaly, primary autosomal recessive 3"""	MCPH3		10721722, 17764569, 24466316	Standard	NM_018249		Approved	C48, FLJ10867, CEP215	uc004bkf.4	Q96SN8	OTTHUMG00000021043	ENST00000349780.4:c.128-1G>A	9.37:g.123330665C>T						CDK5RAP2_uc004bkg.2_Silent_p.L43L|CDK5RAP2_uc011lxw.1_5'UTR|CDK5RAP2_uc011lxx.1_RNA|CDK5RAP2_uc011lxy.1_RNA|CDK5RAP2_uc011lxz.1_5'UTR|CDK5RAP2_uc011lya.1_5'UTR|CDK5RAP2_uc004bkh.1_Silent_p.L43L	p.L43L	NM_018249	NP_060719	Q96SN8	CK5P2_HUMAN			3	310	-			43	L -> V (in Ref. 3; AAP41926).				Q5JV18|Q7Z3L4|Q7Z3U1|Q7Z7I6|Q9BSW0|Q9H6J6|Q9HCD9|Q9NV90|Q9UIW9	Silent	SNP	ENST00000349780.4	37	c.129G>A	CCDS6823.1																																																																																				PASS	0.438	CDK5RAP2-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000055535.1	NM_018249	Silent	81	287	81	287	---	---	---	---
ADARB2	105	broad.mit.edu	37	10	1245948	1245948	+	Nonsense_Mutation	SNP	G	G	A			TCGA-22-4595-01A-01D-1267-08	TCGA-22-4595-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7fcf5123-2d1b-4666-9d39-a1aaf63cf954	850e8a4d-e0f6-4bd6-80f5-1c20e2b0e4f9	g.chr10:1245948G>A	ENST00000381312.1	-	8	2147	c.1822C>T	c.(1822-1824)Cag>Tag	p.Q608*	ADARB2_ENST00000381305.1_Nonsense_Mutation_p.Q10*|ADARB2_ENST00000381310.3_Nonsense_Mutation_p.Q117*	NM_018702.3	NP_061172.1	Q9NS39	RED2_HUMAN	adenosine deaminase, RNA-specific, B2 (non-functional)	608	A to I editase. {ECO:0000255|PROSITE- ProRule:PRU00240}.				mRNA processing (GO:0006397)	nucleus (GO:0005634)	adenosine deaminase activity (GO:0004000)|double-stranded RNA binding (GO:0003725)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|single-stranded RNA binding (GO:0003727)	p.Q608*(1)		breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(17)|prostate(2)|skin(1)|urinary_tract(1)	41		all_epithelial(10;0.059)|Colorectal(49;0.0815)		all cancers(11;0.0224)|GBM - Glioblastoma multiforme(2;0.0414)|Epithelial(11;0.165)		GCGGGCAGCTGGCCGACACCC	0.687																																						uc009xhq.2																			1	Substitution - Nonsense(1)		lung(1)	large_intestine(2)|central_nervous_system(1)	3						c.(1822-1824)CAG>TAG		adenosine deaminase, RNA-specific, B2							38.0	37.0	37.0					10																	1245948		2200	4295	6495	SO:0001587	stop_gained	105				mRNA processing	mitochondrion|nucleus	adenosine deaminase activity|double-stranded RNA binding|metal ion binding|single-stranded RNA binding	g.chr10:1245948G>A	AF034837	CCDS7058.1	10p15.3	2013-05-20	2013-05-20		ENSG00000185736	ENSG00000185736	3.5.-.-		227	protein-coding gene	gene with protein product	"""RED2 homolog (rat)"""	602065	"""adenosine deaminase, RNA-specific, B2 (RED2 homolog rat)"", ""adenosine deaminase, RNA-specific, B2"""			9272162, 10836796	Standard	NM_018702		Approved	RED2, hRED2, ADAR3	uc009xhq.3	Q9NS39	OTTHUMG00000017543	ENST00000381312.1:c.1822C>T	10.37:g.1245948G>A	ENSP00000370713:p.Gln608*					ADARB2_uc001igm.3_Nonsense_Mutation_p.Q117*	p.Q608*	NM_018702	NP_061172	Q9NS39	RED2_HUMAN		all cancers(11;0.0224)|GBM - Glioblastoma multiforme(2;0.0414)|Epithelial(11;0.165)	8	2196	-		all_epithelial(10;0.059)|Colorectal(49;0.0815)	608			A to I editase.		B2RPJ5|Q5VUT6|Q5VW42	Nonsense_Mutation	SNP	ENST00000381312.1	37	c.1822C>T	CCDS7058.1	.	.	.	.	.	.	.	.	.	.	G	20.3	3.970857	0.74246	.	.	ENSG00000185736	ENST00000381312;ENST00000381310;ENST00000381305	.	.	.	5.77	4.86	0.63082	.	0.248137	0.41605	D	0.000859	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.59425	D	0.04	-42.3983	11.7369	0.51769	0.0:0.1337:0.7273:0.1391	.	.	.	.	X	608;117;10	.	ENSP00000370706:Q10X	Q	-	1	0	ADARB2	1235948	1.000000	0.71417	1.000000	0.80357	0.496000	0.33645	6.126000	0.71635	1.410000	0.46936	0.655000	0.94253	CAG		PASS	0.687	ADARB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046426.1	NM_018702		8	7	8	7	---	---	---	---
GATA3	2625	broad.mit.edu	37	10	8115758	8115758	+	Missense_Mutation	SNP	G	G	A			TCGA-22-4595-01A-01D-1267-08	TCGA-22-4595-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7fcf5123-2d1b-4666-9d39-a1aaf63cf954	850e8a4d-e0f6-4bd6-80f5-1c20e2b0e4f9	g.chr10:8115758G>A	ENST00000346208.3	+	6	1559	c.1104G>A	c.(1102-1104)atG>atA	p.M368I	GATA3_ENST00000379328.3_Missense_Mutation_p.M369I|GATA3_ENST00000461472.1_3'UTR			P23771	GATA3_HUMAN	GATA binding protein 3	368					anatomical structure formation involved in morphogenesis (GO:0048646)|anatomical structure morphogenesis (GO:0009653)|aortic valve morphogenesis (GO:0003180)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|canonical Wnt signaling pathway involved in metanephric kidney development (GO:0061290)|cardiac right ventricle morphogenesis (GO:0003215)|cell fate determination (GO:0001709)|cell maturation (GO:0048469)|cellular response to BMP stimulus (GO:0071773)|cellular response to interferon-alpha (GO:0035457)|cellular response to interleukin-4 (GO:0071353)|cellular response to tumor necrosis factor (GO:0071356)|defense response (GO:0006952)|developmental growth (GO:0048589)|ear development (GO:0043583)|embryonic hemopoiesis (GO:0035162)|erythrocyte differentiation (GO:0030218)|humoral immune response (GO:0006959)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|inner ear morphogenesis (GO:0042472)|interferon-gamma secretion (GO:0072643)|interleukin-4 secretion (GO:0072602)|kidney development (GO:0001822)|lens development in camera-type eye (GO:0002088)|lymphocyte migration (GO:0072676)|male gonad development (GO:0008584)|mast cell differentiation (GO:0060374)|mesenchymal to epithelial transition (GO:0060231)|mesonephros development (GO:0001823)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell motility (GO:2000146)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell proliferation involved in mesonephros development (GO:2000607)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of fibroblast growth factor receptor signaling pathway involved in ureteric bud formation (GO:2000703)|negative regulation of glial cell-derived neurotrophic factor receptor signaling pathway involved in ureteric bud formation (GO:2000734)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of interleukin-2 production (GO:0032703)|negative regulation of mammary gland epithelial cell proliferation (GO:0033600)|negative regulation of transcription, DNA-templated (GO:0045892)|nephric duct formation (GO:0072179)|nephric duct morphogenesis (GO:0072178)|neuron migration (GO:0001764)|norepinephrine biosynthetic process (GO:0042421)|otic vesicle development (GO:0071599)|parathyroid gland development (GO:0060017)|parathyroid hormone secretion (GO:0035898)|pharyngeal system development (GO:0060037)|phosphatidylinositol 3-kinase signaling (GO:0014065)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of interleukin-13 production (GO:0032736)|positive regulation of interleukin-13 secretion (GO:2000667)|positive regulation of interleukin-4 production (GO:0032753)|positive regulation of interleukin-5 production (GO:0032754)|positive regulation of interleukin-5 secretion (GO:2000664)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of signal transduction (GO:0009967)|positive regulation of T cell differentiation (GO:0045582)|positive regulation of thyroid hormone generation (GO:2000611)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription regulatory region DNA binding (GO:2000679)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of ureteric bud formation (GO:0072107)|post-embryonic development (GO:0009791)|pro-T cell differentiation (GO:0002572)|regulation of CD4-positive, alpha-beta T cell differentiation (GO:0043370)|regulation of cellular response to X-ray (GO:2000683)|regulation of cytokine biosynthetic process (GO:0042035)|regulation of establishment of cell polarity (GO:2000114)|regulation of histone H3-K27 methylation (GO:0061085)|regulation of histone H3-K4 methylation (GO:0051569)|regulation of nephron tubule epithelial cell differentiation (GO:0072182)|regulation of neuron apoptotic process (GO:0043523)|regulation of neuron projection development (GO:0010975)|response to drug (GO:0042493)|response to estrogen (GO:0043627)|response to ethanol (GO:0045471)|response to gamma radiation (GO:0010332)|response to virus (GO:0009615)|signal transduction (GO:0007165)|sympathetic nervous system development (GO:0048485)|T cell receptor signaling pathway (GO:0050852)|T-helper 2 cell differentiation (GO:0045064)|thymic T cell selection (GO:0045061)|thymus development (GO:0048538)|TOR signaling (GO:0031929)|transcription from RNA polymerase II promoter (GO:0006366)|type IV hypersensitivity (GO:0001806)|ureter maturation (GO:0035799)|ureteric bud formation (GO:0060676)|uterus development (GO:0060065)|ventricular septum development (GO:0003281)	nuclear chromatin (GO:0000790)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	core promoter proximal region sequence-specific DNA binding (GO:0000987)|core promoter sequence-specific DNA binding (GO:0001046)|DNA binding (GO:0003677)|E-box binding (GO:0070888)|enhancer sequence-specific DNA binding (GO:0001158)|HMG box domain binding (GO:0071837)|nucleic acid binding transcription factor activity (GO:0001071)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|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)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|transcription regulatory region sequence-specific DNA binding (GO:0000976)|zinc ion binding (GO:0008270)	p.M369I(1)		NS(1)|breast(44)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(24)|ovary(3)|skin(2)	87						ACCGAAAAATGTCTAGCAAAT	0.408			"""F, N, S"""		breast		"""HDR syndrome (HYPOPARATHYROIDISM, SENSORINEURAL DEAFNESS, AND RENAL DISEASE)"""																															uc001ika.2				Rec	yes		10	10p15	2625	F|N|S	GATA binding protein 3	yes	HDR syndrome (HYPOPARATHYROIDISM|SENSORINEURAL DEAFNESS|AND RENAL DISEASE)	E			breast		1	Substitution - Missense(1)		lung(1)	breast(17)|ovary(3)|central_nervous_system(2)	22						c.(1102-1104)ATG>ATA		GATA binding protein 3 isoform 2							61.0	67.0	65.0					10																	8115758		2203	4300	6503	SO:0001583	missense	2625				aortic valve morphogenesis|blood coagulation|canonical Wnt receptor signaling pathway involved in metanephric kidney development|cardiac right ventricle morphogenesis|cell fate determination|cellular response to interferon-alpha|cellular response to interleukin-4|cellular response to tumor necrosis factor|defense response|ear development|lymphocyte migration|male gonad development|mesenchymal to epithelial transition|mesonephros development|negative regulation of cell cycle|negative regulation of cell motility|negative regulation of cell proliferation involved in mesonephros development|negative regulation of endothelial cell apoptosis|negative regulation of fat cell differentiation|negative regulation of fibroblast growth factor receptor signaling pathway involved in ureteric bud formation|negative regulation of glial cell-derived neurotrophic factor receptor signaling pathway involved in ureteric bud formation|negative regulation of inflammatory response|negative regulation of mammary gland epithelial cell proliferation|nephric duct formation|norepinephrine biosynthetic process|pharyngeal system development|phosphatidylinositol 3-kinase cascade|positive regulation of endothelial cell migration|positive regulation of interleukin-13 secretion|positive regulation of interleukin-4 production|positive regulation of interleukin-5 secretion|positive regulation of protein kinase B signaling cascade|positive regulation of T cell differentiation|positive regulation of thyroid hormone generation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription regulatory region DNA binding|positive regulation of ureteric bud formation|regulation of cellular response to X-ray|regulation of cytokine biosynthetic process|regulation of nephron tubule epithelial cell differentiation|response to estrogen stimulus|response to virus|sympathetic nervous system development|T cell receptor signaling pathway|TOR signaling cascade|ureteric bud formation|uterus development|ventricular septum development	nuclear chromatin|nucleolus|nucleoplasm	core promoter proximal region sequence-specific DNA binding|core promoter sequence-specific DNA binding|E-box binding|HMG box domain binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription|transcription coactivator activity|transcription factor binding|zinc ion binding	g.chr10:8115758G>A	X55122	CCDS7083.1, CCDS31143.1	10p15	2013-01-25	2001-11-28		ENSG00000107485	ENSG00000107485		"""GATA zinc finger domain containing"""	4172	protein-coding gene	gene with protein product		131320	"""GATA-binding protein 3"""			2050118, 15087456	Standard	NM_002051		Approved	HDR	uc001ijz.3	P23771	OTTHUMG00000017640	ENST00000346208.3:c.1104G>A	10.37:g.8115758G>A	ENSP00000341619:p.Met368Ile					GATA3_uc001ijz.2_Missense_Mutation_p.M369I	p.M368I	NM_002051	NP_002042	P23771	GATA3_HUMAN			6	1661	+			368					Q5VWG7|Q5VWG8|Q96J16	Missense_Mutation	SNP	ENST00000346208.3	37	c.1104G>A	CCDS7083.1	.	.	.	.	.	.	.	.	.	.	G	15.96	2.988190	0.53934	.	.	ENSG00000107485	ENST00000379328;ENST00000346208	D;D	0.99607	-6.27;-6.27	5.26	5.26	0.73747	Zinc finger, NHR/GATA-type (1);	0.038993	0.85682	D	0.000000	D	0.99080	0.9684	L	0.37800	1.135	0.80722	D	1	P;P	0.45078	0.85;0.845	B;P	0.53549	0.364;0.729	D	0.99877	1.1106	10	0.42905	T	0.14	-8.9809	18.8714	0.92317	0.0:0.0:1.0:0.0	.	368;369	P23771;P23771-2	GATA3_HUMAN;.	I	369;368	ENSP00000368632:M369I;ENSP00000341619:M368I	ENSP00000341619:M368I	M	+	3	0	GATA3	8155764	1.000000	0.71417	1.000000	0.80357	0.953000	0.61014	9.869000	0.99810	2.447000	0.82792	0.462000	0.41574	ATG		PASS	0.408	GATA3-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000046719.1	NM_001002295		52	83	52	83	---	---	---	---
BAMBI	25805	broad.mit.edu	37	10	28970226	28970226	+	Missense_Mutation	SNP	C	C	A			TCGA-22-4595-01A-01D-1267-08	TCGA-22-4595-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7fcf5123-2d1b-4666-9d39-a1aaf63cf954	850e8a4d-e0f6-4bd6-80f5-1c20e2b0e4f9	g.chr10:28970226C>A	ENST00000375533.3	+	2	672	c.116C>A	c.(115-117)gCc>gAc	p.A39D		NM_012342.2	NP_036474.1	Q13145	BAMBI_HUMAN	BMP and activin membrane-bound inhibitor	39					cell migration (GO:0016477)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of protein binding (GO:0032092)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cell shape (GO:0008360)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	frizzled binding (GO:0005109)|type II transforming growth factor beta receptor binding (GO:0005114)	p.A39D(1)		central_nervous_system(5)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|skin(1)	17						CACTGTGTAGCCACTGGTTAT	0.463																																						uc001iuj.1																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(4)	4						c.(115-117)GCC>GAC		BMP and activin membrane-bound inhibitor							109.0	102.0	104.0					10																	28970226		2203	4300	6503	SO:0001583	missense	25805				cell migration|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of catenin import into nucleus|positive regulation of cell proliferation|positive regulation of epithelial to mesenchymal transition|positive regulation of protein binding|positive regulation of transcription, DNA-dependent|regulation of cell shape	cytoplasm|integral to membrane|plasma membrane	frizzled binding|type II transforming growth factor beta receptor binding	g.chr10:28970226C>A	U23070	CCDS7162.1	10p12.3-p11.2	2013-07-23	2013-07-23		ENSG00000095739	ENSG00000095739			30251	protein-coding gene	gene with protein product		604444	"""BMP and activin membrane-bound inhibitor homolog (Xenopus laevis)"""			8621228, 19758997	Standard	NM_012342		Approved	NMA	uc001iuj.1	Q13145	OTTHUMG00000017874	ENST00000375533.3:c.116C>A	10.37:g.28970226C>A	ENSP00000364683:p.Ala39Asp					BAMBI_uc001iui.2_Missense_Mutation_p.A39D	p.A39D	NM_012342	NP_036474	Q13145	BAMBI_HUMAN			2	519	+			39			Extracellular (Potential).			Missense_Mutation	SNP	ENST00000375533.3	37	c.116C>A	CCDS7162.1	.	.	.	.	.	.	.	.	.	.	C	21.5	4.164878	0.78339	.	.	ENSG00000095739	ENST00000375533;ENST00000542444	D	0.90676	-2.71	5.64	5.64	0.86602	.	0.000000	0.85682	D	0.000000	D	0.93926	0.8056	L	0.51422	1.61	0.80722	D	1	D;D	0.89917	0.997;1.0	D;D	0.77557	0.939;0.99	D	0.92564	0.6060	10	0.36615	T	0.2	.	19.7156	0.96119	0.0:1.0:0.0:0.0	.	39;39	Q13145;Q53G66	BAMBI_HUMAN;.	D	39	ENSP00000364683:A39D	ENSP00000364683:A39D	A	+	2	0	BAMBI	29010232	1.000000	0.71417	0.996000	0.52242	0.995000	0.86356	7.769000	0.85360	2.658000	0.90341	0.655000	0.94253	GCC		PASS	0.463	BAMBI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047374.1	NM_012342		35	68	35	68	---	---	---	---
LYZL2	119180	broad.mit.edu	37	10	30918610	30918611	+	Missense_Mutation	DNP	GG	GG	CA			TCGA-22-4595-01A-01D-1267-08	TCGA-22-4595-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7fcf5123-2d1b-4666-9d39-a1aaf63cf954	850e8a4d-e0f6-4bd6-80f5-1c20e2b0e4f9	g.chr10:30918610_30918611GG>CA	ENST00000375318.2	-	1	80_81	c.24_25CC>TG	c.(22-27)tgCCtg>tgTGtg	p.L9V		NM_183058.2	NP_898881.2	Q7Z4W2	LYZL2_HUMAN	lysozyme-like 2	0					cell wall macromolecule catabolic process (GO:0016998)	extracellular region (GO:0005576)	lysozyme activity (GO:0003796)	p.L9V(2)|p.C8C(1)		NS(2)|central_nervous_system(1)|large_intestine(1)|lung(14)|prostate(1)	19		Prostate(175;0.151)				GTCGGTGACAGGCAGCTCAGGG	0.505																																						uc001ivk.2																			3	Substitution - Missense(2)|Substitution - coding silent(1)		lung(3)		0						c.(25-27)CTG>GTG|c.(22-24)TGC>TGT		lysozyme-like 2																																				SO:0001583	missense	119180				cell wall macromolecule catabolic process	extracellular region	lysozyme activity	g.chr10:30918610G>C|g.chr10:30918611G>A	AF139543	CCDS7167.2	10p11.23	2009-12-04			ENSG00000151033	ENSG00000151033			29613	protein-coding gene	gene with protein product		612748					Standard	NM_183058		Approved		uc001ivk.3	Q7Z4W2	OTTHUMG00000017898	ENST00000375318.2:c.24_25delinsCA	10.37:g.30918610_30918611delinsCA	ENSP00000364467:p.Leu9Val						p.L9V|p.C8C	NM_183058	NP_898881	Q7Z4W2	LYZL2_HUMAN			1	38|37	-		Prostate(175;0.151)	Error:Variant_position_missing_in_Q7Z4W2_after_alignment					Q6NZ69	Missense_Mutation|Silent	SNP	ENST00000375318.2	37	c.25C>G|c.24C>T	CCDS7167.2																																																																																				PASS	0.505	LYZL2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047434.1	NM_183058		11	26	11	26	---	---	---	---
NRP1	8829	broad.mit.edu	37	10	33559685	33559685	+	Silent	SNP	C	C	A			TCGA-22-4595-01A-01D-1267-08	TCGA-22-4595-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7fcf5123-2d1b-4666-9d39-a1aaf63cf954	850e8a4d-e0f6-4bd6-80f5-1c20e2b0e4f9	g.chr10:33559685C>A	ENST00000265371.4	-	4	873	c.348G>T	c.(346-348)ggG>ggT	p.G116G	NRP1_ENST00000374823.5_Silent_p.G116G|NRP1_ENST00000432372.2_Silent_p.G116G|NRP1_ENST00000395995.1_Silent_p.G116G|NRP1_ENST00000374875.1_Intron|NRP1_ENST00000374822.4_Silent_p.G116G|NRP1_ENST00000374867.2_Silent_p.G116G|NRP1_ENST00000374816.3_Silent_p.G116G|NRP1_ENST00000374821.5_Silent_p.G116G			O14786	NRP1_HUMAN	neuropilin 1	116	CUB 1. {ECO:0000255|PROSITE- ProRule:PRU00059}.				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.G116G(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)	AAAGAAATGGCCCTGAAGACA	0.413																																					Melanoma(104;886 1489 44640 45944 51153)	uc001iwx.3																			1	Substitution - coding silent(1)		lung(1)	central_nervous_system(2)|ovary(1)|skin(1)	4						c.(346-348)GGG>GGT		neuropilin 1 isoform a	Palifermin(DB00039)|Pegaptanib(DB04895)						92.0	94.0	93.0					10																	33559685		2203	4300	6503	SO:0001819	synonymous_variant	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.chr10:33559685C>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.348G>T	10.37:g.33559685C>A						NRP1_uc001iwv.3_Silent_p.G116G|NRP1_uc009xlz.2_Silent_p.G116G|NRP1_uc001iww.3_Intron|NRP1_uc001iwy.3_Silent_p.G116G|NRP1_uc001iwz.2_Silent_p.G116G|NRP1_uc001ixa.2_Silent_p.G116G|NRP1_uc001ixb.1_Silent_p.G116G|NRP1_uc001ixc.1_Silent_p.G116G	p.G116G	NM_003873	NP_003864	O14786	NRP1_HUMAN			3	871	-			116			CUB 1.|Extracellular (Potential).		B0LPG9|O60461|Q5T7F1|Q5T7F2|Q5T7F3|Q86T59|Q96I90|Q96IH5	Silent	SNP	ENST00000265371.4	37	c.348G>T	CCDS7177.1																																																																																				PASS	0.413	NRP1-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051203.2			5	146	5	146	---	---	---	---
CREM	1390	broad.mit.edu	37	10	35437385	35437385	+	Missense_Mutation	SNP	A	A	T			TCGA-22-4595-01A-01D-1267-08	TCGA-22-4595-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7fcf5123-2d1b-4666-9d39-a1aaf63cf954	850e8a4d-e0f6-4bd6-80f5-1c20e2b0e4f9	g.chr10:35437385A>T	ENST00000395895.2	+	3	296	c.134A>T	c.(133-135)cAg>cTg	p.Q45L	CREM_ENST00000374734.3_Missense_Mutation_p.Q45L|CREM_ENST00000439705.1_Missense_Mutation_p.Q45L|CREM_ENST00000345491.3_Missense_Mutation_p.Q45L|CREM_ENST00000429130.3_Missense_Mutation_p.Q29L|CREM_ENST00000489388.1_Intron|CREM_ENST00000348787.2_Missense_Mutation_p.Q29L|CREM_ENST00000374726.3_Missense_Mutation_p.Q29L|CREM_ENST00000469949.2_Missense_Mutation_p.Q29L|CREM_ENST00000474362.1_Intron|CREM_ENST00000354759.3_Missense_Mutation_p.Q45L|CREM_ENST00000374721.3_Missense_Mutation_p.Q29L|CREM_ENST00000333809.8_Missense_Mutation_p.Q45L|CREM_ENST00000489321.1_Missense_Mutation_p.Q29L|CREM_ENST00000374728.3_Missense_Mutation_p.Q29L|CREM_ENST00000479070.1_Missense_Mutation_p.Q45L|CREM_ENST00000337656.4_Missense_Mutation_p.Q45L|CREM_ENST00000460270.1_Intron			Q03060	CREM_HUMAN	cAMP responsive element modulator	45					cell differentiation (GO:0030154)|glycosphingolipid metabolic process (GO:0006687)|multicellular organismal development (GO:0007275)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|rhythmic process (GO:0048511)|signal transduction (GO:0007165)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	cAMP response element binding protein binding (GO:0008140)|DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.Q29L(1)|p.Q45L(1)		NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)	14						GTGCAGACTCAGACTGGCCAA	0.428																																						uc001iyb.2																			2	Substitution - Missense(2)		lung(2)		0						c.(133-135)CAG>CTG		cAMP responsive element modulator isoform a							97.0	91.0	93.0					10																	35437385		2203	4300	6503	SO:0001583	missense	1390				cell differentiation|multicellular organismal development|signal transduction|spermatogenesis	nucleus	cAMP response element binding protein binding|protein binding|protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr10:35437385A>T		CCDS7180.1, CCDS7181.1, CCDS7182.1, CCDS7183.1, CCDS7184.1, CCDS7185.1, CCDS7186.1, CCDS7187.1, CCDS7188.1, CCDS31181.1, CCDS53519.1, CCDS53520.1, CCDS53517.1, CCDS53518.1, CCDS53521.1, CCDS58074.1, CCDS58075.1, CCDS58076.1	10p12.1-p11.1	2013-01-10			ENSG00000095794	ENSG00000095794		"""basic leucine zipper proteins"""	2352	protein-coding gene	gene with protein product		123812				1461747, 7916662	Standard	NM_182717		Approved	hCREM-2	uc001iyb.3	Q03060	OTTHUMG00000017953	ENST00000395895.2:c.134A>T	10.37:g.35437385A>T	ENSP00000379232:p.Gln45Leu					CREM_uc001ixx.2_Missense_Mutation_p.Q29L|CREM_uc001ixy.2_Intron|CREM_uc001ixz.2_Intron|CREM_uc001iya.2_Missense_Mutation_p.Q45L|CREM_uc001iyc.2_Missense_Mutation_p.Q29L|CREM_uc001iyd.2_Missense_Mutation_p.Q45L|CREM_uc001iye.2_Missense_Mutation_p.Q45L	p.Q45L	NM_181571	NP_853549	Q03060	CREM_HUMAN			3	296	+			45					A8K014|A8K3J7|A8K6A1|A8MPQ2|B4DXC1|C9J785|C9JZ10|E9PAR4|E9PHM1|O75519|Q14501|Q14503|Q14504|Q14505|Q14506|Q15731|Q16114|Q16116|Q5T9H7|Q5W1A6|Q5W1A7|Q5W1A8|Q5W1A9|Q5W1B0|Q5W1B2|Q7Z2Q6|Q8IVD4|Q96AG7|Q9NZ98|Q9NZ99|Q9NZB9	Missense_Mutation	SNP	ENST00000395895.2	37	c.134A>T		.	.	.	.	.	.	.	.	.	.	A	13.54	2.267266	0.40095	.	.	ENSG00000095794	ENST00000374726;ENST00000354759;ENST00000489321;ENST00000427847;ENST00000345491;ENST00000395895;ENST00000374728;ENST00000487132;ENST00000333809;ENST00000439705;ENST00000374734;ENST00000337656;ENST00000479070;ENST00000462058;ENST00000429130;ENST00000489627;ENST00000493508;ENST00000490263;ENST00000374721;ENST00000348787;ENST00000374722	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.79033	-1.23;0.27;-1.23;-1.23;0.7;0.84;0.71;0.3;0.42;0.4;0.26;0.29;0.69;0.83;0.39;0.71	4.95	1.24	0.21308	.	2.003110	0.02106	N	0.054373	T	0.81823	0.4904	L	0.36672	1.1	0.22127	N	0.999343	P;B;P;B;P;B	0.49635	0.926;0.126;0.774;0.214;0.615;0.349	D;B;P;B;B;B	0.68192	0.956;0.055;0.497;0.209;0.269;0.108	T	0.62248	-0.6894	10	0.51188	T	0.08	.	4.4626	0.11673	0.4965:0.3283:0.1751:0.0	.	45;45;29;45;45;29	A8MPQ2;E9PHM1;Q5W1A7;Q03060-16;Q5W1B0;Q96AG7	.;.;.;.;.;.	L	29;45;29;45;45;45;29;29;45;45;45;45;45;29;29;29;29;29;29;29;29	ENSP00000363858:Q29L;ENSP00000346804:Q45L;ENSP00000419924:Q29L;ENSP00000403938:Q45L;ENSP00000265372:Q45L;ENSP00000379232:Q45L;ENSP00000363860:Q29L;ENSP00000418798:Q29L;ENSP00000333055:Q45L;ENSP00000409220:Q45L;ENSP00000363866:Q45L;ENSP00000337138:Q45L;ENSP00000420511:Q45L;ENSP00000393538:Q29L;ENSP00000363853:Q29L;ENSP00000345384:Q29L	ENSP00000333055:Q45L	Q	+	2	0	CREM	35477391	0.992000	0.36948	0.630000	0.29268	0.815000	0.46073	0.672000	0.25187	-0.033000	0.13736	0.533000	0.62120	CAG		PASS	0.428	CREM-203	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_001881		34	84	34	84	---	---	---	---
ZNF25	219749	broad.mit.edu	37	10	38241502	38241502	+	Missense_Mutation	SNP	G	G	C			TCGA-22-4595-01A-01D-1267-08	TCGA-22-4595-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7fcf5123-2d1b-4666-9d39-a1aaf63cf954	850e8a4d-e0f6-4bd6-80f5-1c20e2b0e4f9	g.chr10:38241502G>C	ENST00000302609.7	-	6	1136	c.924C>G	c.(922-924)caC>caG	p.H308Q	ZNF25_ENST00000374633.1_5'UTR|AL117337.1_ENST00000582458.1_RNA	NM_145011.2	NP_659448.1	P17030	ZNF25_HUMAN	zinc finger protein 25	308					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.H308Q(1)		breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(11)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		all_neural(218;0.0218)|Breast(68;0.0389)|Ovarian(717;0.0443)|Renal(717;0.157)				TCTCTCCTGTGTGACTTCTCT	0.438																																						uc001ize.1																			1	Substitution - Missense(1)		lung(1)	breast(2)|ovary(1)|central_nervous_system(1)	4						c.(922-924)CAC>CAG		zinc finger protein 25							67.0	67.0	67.0					10																	38241502		2203	4300	6503	SO:0001583	missense	219749				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr10:38241502G>C	AK056452	CCDS7195.1	10p11.2	2013-01-08	2006-05-10		ENSG00000175395	ENSG00000175395		"""Zinc fingers, C2H2-type"", ""-"""	13043	protein-coding gene	gene with protein product		194528	"""zinc finger protein 25 (KOX 19)"""			1639412, 8464732	Standard	NM_145011		Approved	KOX19, FLJ31890, Zfp9	uc001ize.1	P17030	OTTHUMG00000019344	ENST00000302609.7:c.924C>G	10.37:g.38241502G>C	ENSP00000302222:p.His308Gln					ZNF25_uc001izf.1_Missense_Mutation_p.H272Q	p.H308Q	NM_145011	NP_659448	P17030	ZNF25_HUMAN			6	1029	-		all_neural(218;0.0218)|Breast(68;0.0389)|Ovarian(717;0.0443)|Renal(717;0.157)	308			C2H2-type 7.		A9Z1X5|Q8IYE3|Q8NDD6|Q96MU2	Missense_Mutation	SNP	ENST00000302609.7	37	c.924C>G	CCDS7195.1	.	.	.	.	.	.	.	.	.	.	G	16.46	3.130520	0.56828	.	.	ENSG00000175395	ENST00000302609;ENST00000374633	T	0.66995	-0.24	4.65	0.731	0.18277	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.45126	D	0.000383	D	0.82688	0.5091	M	0.93720	3.45	0.32702	N	0.512691	D	0.89917	1.0	D	0.87578	0.998	D	0.83855	0.0265	10	0.87932	D	0	-20.3148	8.0824	0.30752	0.3652:0.0:0.6348:0.0	.	308	P17030	ZNF25_HUMAN	Q	308;272	ENSP00000302222:H308Q	ENSP00000302222:H308Q	H	-	3	2	ZNF25	38281508	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.879000	0.48522	0.298000	0.22638	0.549000	0.68633	CAC		PASS	0.438	ZNF25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051214.1	NM_145011, NM_006966		23	74	23	74	---	---	---	---
FRMPD2	143162	broad.mit.edu	37	10	49440322	49440322	+	Missense_Mutation	SNP	C	C	A			TCGA-22-4595-01A-01D-1267-08	TCGA-22-4595-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7fcf5123-2d1b-4666-9d39-a1aaf63cf954	850e8a4d-e0f6-4bd6-80f5-1c20e2b0e4f9	g.chr10:49440322C>A	ENST00000374201.3	-	10	1306	c.1004G>T	c.(1003-1005)gGg>gTg	p.G335V	FRMPD2_ENST00000305531.3_Missense_Mutation_p.G311V|FRMPD2_ENST00000407470.4_Missense_Mutation_p.G304V	NM_001018071.3|NM_001042512.2	NP_001018081|NP_001035977.2	Q68DX3	FRPD2_HUMAN	FERM and PDZ domain containing 2	335					tight junction assembly (GO:0070830)	basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|tight junction (GO:0005923)	1-phosphatidylinositol binding (GO:0005545)	p.G335V(1)		NS(2)|autonomic_ganglia(2)|breast(5)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(15)|lung(24)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	66				Kidney(211;0.201)		ATAGGATTTCCCTTTTTTGGT	0.428																																						uc001jgi.2																			1	Substitution - Missense(1)		lung(1)	large_intestine(1)	1						c.(1003-1005)GGG>GTG		FERM and PDZ domain containing 2 isoform 3							62.0	59.0	60.0					10																	49440322		2203	4300	6503	SO:0001583	missense	143162				tight junction assembly	basolateral plasma membrane|cytoplasm|cytoskeleton|tight junction	1-phosphatidylinositol binding|protein binding	g.chr10:49440322C>A	AK123038	CCDS31195.1	10q11	2010-10-13			ENSG00000170324	ENSG00000170324			28572	protein-coding gene	gene with protein product		613323	"""PDZ domain containing 5C"""	PDZD5C, PDZK5C			Standard	NM_001018071		Approved	MGC35285	uc001jdv.3	Q68DX3	OTTHUMG00000018171	ENST00000374201.3:c.1004G>T	10.37:g.49440322C>A	ENSP00000363317:p.Gly335Val					FRMPD2_uc001jgh.2_Missense_Mutation_p.G304V|FRMPD2_uc001jgj.2_Missense_Mutation_p.G313V	p.G335V	NM_001018071	NP_001018081	Q68DX3	FRPD2_HUMAN		Kidney(211;0.201)	10	1111	-			335					B7WNW0|B7ZML5|Q2VY07|Q6GMQ9|Q6ZN38|Q6ZWI2|Q8N5T9	Missense_Mutation	SNP	ENST00000374201.3	37	c.1004G>T	CCDS31195.1	.	.	.	.	.	.	.	.	.	.	C	22.9	4.355430	0.82243	.	.	ENSG00000170324	ENST00000374201;ENST00000305531;ENST00000407470	T;T;T	0.68331	-0.27;-0.31;-0.32	5.44	4.53	0.55603	.	.	.	.	.	T	0.78698	0.4324	M	0.71581	2.175	0.80722	D	1	D;D;D	0.69078	0.997;0.982;0.997	D;P;D	0.63597	0.916;0.852;0.916	T	0.80894	-0.1178	9	0.62326	D	0.03	.	13.9913	0.64369	0.0:0.8471:0.1529:0.0	.	311;335;304	Q68DX3-2;Q68DX3;F8WCT2	.;FRPD2_HUMAN;.	V	335;311;304	ENSP00000363317:G335V;ENSP00000307079:G311V;ENSP00000384339:G304V	ENSP00000307079:G311V	G	-	2	0	FRMPD2	49110328	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	5.122000	0.64697	1.283000	0.44513	0.655000	0.94253	GGG		PASS	0.428	FRMPD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047923.3	NM_152428		15	40	15	40	---	---	---	---
TET1	80312	broad.mit.edu	37	10	70446445	70446445	+	Silent	SNP	T	T	G			TCGA-22-4595-01A-01D-1267-08	TCGA-22-4595-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7fcf5123-2d1b-4666-9d39-a1aaf63cf954	850e8a4d-e0f6-4bd6-80f5-1c20e2b0e4f9	g.chr10:70446445T>G	ENST00000373644.4	+	11	5594	c.5385T>G	c.(5383-5385)ccT>ccG	p.P1795P		NM_030625.2	NP_085128.2	Q8NFU7	TET1_HUMAN	tet methylcytosine dioxygenase 1	1795					chromatin modification (GO:0016568)|DNA demethylation (GO:0080111)|inner cell mass cell differentiation (GO:0001826)|negative regulation of methylation-dependent chromatin silencing (GO:0090310)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein O-linked glycosylation (GO:0006493)|regulation of DNA methylation (GO:0044030)|stem cell maintenance (GO:0019827)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	iron ion binding (GO:0005506)|methylcytosine dioxygenase activity (GO:0070579)|structure-specific DNA binding (GO:0043566)|zinc ion binding (GO:0008270)	p.P1795P(1)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(2)|ovary(5)|prostate(1)|upper_aerodigestive_tract(2)	21						ACAGTAAGCCTTCGTCACTGC	0.428																																						uc001jok.3																			1	Substitution - coding silent(1)		lung(1)	ovary(5)|lung(2)|prostate(1)|breast(1)	9						c.(5383-5385)CCT>CCG		CXXC finger 6							69.0	63.0	65.0					10																	70446445		2203	4300	6503	SO:0001819	synonymous_variant	80312				DNA demethylation|inner cell mass cell differentiation|negative regulation of methylation-dependent chromatin silencing|stem cell maintenance		iron ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|structure-specific DNA binding|zinc ion binding	g.chr10:70446445T>G	AF430147	CCDS7281.1	10q21	2014-02-18	2011-09-30	2008-03-12	ENSG00000138336	ENSG00000138336			29484	protein-coding gene	gene with protein product	"""leukemia-associated protein with a CXXC domain"", ""ten-eleven translocation-1"""	607790	"""CXXC zinc finger 6"", ""tet oncogene 1"""	CXXC6		12124344, 12646957	Standard	NM_030625		Approved	LCX, KIAA1676, bA119F7.1	uc001jok.4	Q8NFU7	OTTHUMG00000018359	ENST00000373644.4:c.5385T>G	10.37:g.70446445T>G							p.P1795P	NM_030625	NP_085128	Q8NFU7	TET1_HUMAN			11	5890	+			1795					Q5VUP7|Q7Z6B6|Q8TCR1|Q9C0I7	Silent	SNP	ENST00000373644.4	37	c.5385T>G	CCDS7281.1																																																																																				PASS	0.428	TET1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048354.1	NM_030625		51	118	51	118	---	---	---	---
ADAMTS14	140766	broad.mit.edu	37	10	72462179	72462179	+	Missense_Mutation	SNP	G	G	A	rs141188417		TCGA-22-4595-01A-01D-1267-08	TCGA-22-4595-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7fcf5123-2d1b-4666-9d39-a1aaf63cf954	850e8a4d-e0f6-4bd6-80f5-1c20e2b0e4f9	g.chr10:72462179G>A	ENST00000373207.1	+	3	634	c.634G>A	c.(634-636)Gtc>Atc	p.V212I	ADAMTS14_ENST00000373208.1_Missense_Mutation_p.V212I	NM_080722.3	NP_542453.2	Q8WXS8	ATS14_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 14	212					collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)	extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.V212I(1)		NS(1)|autonomic_ganglia(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(15)|ovary(7)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50						CCGGGAGGCCGTCCAGCAGGA	0.622																																						uc001jrh.2																			1	Substitution - Missense(1)		lung(1)	ovary(5)|upper_aerodigestive_tract(1)	6						c.(634-636)GTC>ATC		ADAM metallopeptidase with thrombospondin type 1		G	ILE/VAL,ILE/VAL	0,4406		0,0,2203	65.0	67.0	66.0		634,634	-1.8	0.0	10	dbSNP_134	66	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	ADAMTS14	NM_080722.3,NM_139155.2	29,29	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign,benign	212/1224,212/1227	72462179	1,13005	2203	4300	6503	SO:0001583	missense	140766				collagen catabolic process|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr10:72462179G>A	AF358666	CCDS7306.1, CCDS7307.1	10q21	2008-08-01	2005-08-19		ENSG00000138316	ENSG00000138316		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	14899	protein-coding gene	gene with protein product		607506	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 14"""			11779638	Standard	NM_139155		Approved		uc001jrg.3	Q8WXS8	OTTHUMG00000018414	ENST00000373207.1:c.634G>A	10.37:g.72462179G>A	ENSP00000362303:p.Val212Ile					ADAMTS14_uc001jrg.2_Missense_Mutation_p.V212I	p.V212I	NM_080722	NP_542453	Q8WXS8	ATS14_HUMAN			3	634	+			212					Q5T4G0|Q5T4G1|Q8TE55|Q8TEY8	Missense_Mutation	SNP	ENST00000373207.1	37	c.634G>A	CCDS7306.1	.	.	.	.	.	.	.	.	.	.	G	8.859	0.946436	0.18356	0.0	1.16E-4	ENSG00000138316	ENST00000373208;ENST00000373207	T;T	0.61392	0.11;0.13	5.94	-1.81	0.07882	.	0.165132	0.39759	N	0.001263	T	0.42268	0.1195	L	0.54323	1.7	0.09310	N	1	B;B	0.11235	0.003;0.004	B;B	0.09377	0.004;0.004	T	0.30416	-0.9979	10	0.13853	T	0.58	.	7.8724	0.29573	0.353:0.1009:0.5461:0.0	.	212;212	Q8WXS8;Q5T4G1	ATS14_HUMAN;.	I	212	ENSP00000362304:V212I;ENSP00000362303:V212I	ENSP00000362303:V212I	V	+	1	0	ADAMTS14	72132185	0.000000	0.05858	0.000000	0.03702	0.819000	0.46315	0.057000	0.14279	-0.047000	0.13423	-0.254000	0.11334	GTC		PASS	0.622	ADAMTS14-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000048522.1	NM_080722		37	68	37	68	---	---	---	---
VCL	7414	broad.mit.edu	37	10	75854156	75854156	+	Missense_Mutation	SNP	G	G	C			TCGA-22-4595-01A-01D-1267-08	TCGA-22-4595-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7fcf5123-2d1b-4666-9d39-a1aaf63cf954	850e8a4d-e0f6-4bd6-80f5-1c20e2b0e4f9	g.chr10:75854156G>C	ENST00000211998.4	+	11	1574	c.1480G>C	c.(1480-1482)Gag>Cag	p.E494Q	VCL_ENST00000417648.2_Intron|VCL_ENST00000478896.2_Intron|VCL_ENST00000372755.3_Missense_Mutation_p.E494Q	NM_014000.2	NP_054706.1	P18206	VINC_HUMAN	vinculin	494	3 X 112 AA tandem repeats.|N-terminal globular head.				adherens junction assembly (GO:0034333)|apical junction assembly (GO:0043297)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|cellular component movement (GO:0006928)|epithelial cell-cell adhesion (GO:0090136)|lamellipodium assembly (GO:0030032)|morphogenesis of an epithelium (GO:0002009)|muscle contraction (GO:0006936)|negative regulation of cell migration (GO:0030336)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|protein localization to cell surface (GO:0034394)	actin cytoskeleton (GO:0015629)|adherens junction (GO:0005912)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|cell-substrate junction (GO:0030055)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|vesicle (GO:0031982)	actin binding (GO:0003779)|alpha-catenin binding (GO:0045294)|beta-catenin binding (GO:0008013)|cadherin binding (GO:0045296)|dystroglycan binding (GO:0002162)|structural molecule activity (GO:0005198)	p.E494Q(1)	VCL/ALK(4)	breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	20	Prostate(51;0.0112)					TGTACACCTTGAGGGCAAGAT	0.557																																						uc001jwd.2																		VCL/ALK(4)	1	Substitution - Missense(1)		lung(1)	kidney(4)|ovary(1)|central_nervous_system(1)	6						c.(1480-1482)GAG>CAG		vinculin isoform meta-VCL							68.0	56.0	60.0					10																	75854156		2203	4300	6503	SO:0001583	missense	7414				adherens junction assembly|apical junction assembly|cell-matrix adhesion|cellular component movement|epithelial cell-cell adhesion|lamellipodium assembly|morphogenesis of an epithelium|muscle contraction|negative regulation of cell migration|platelet activation|platelet degranulation|protein localization at cell surface	costamere|cytosol|extracellular region|focal adhesion	actin binding|alpha-catenin binding|beta-catenin binding|beta-dystroglycan binding|cadherin binding|structural molecule activity	g.chr10:75854156G>C	M33308	CCDS7340.1, CCDS7341.1	10q22.1-q23	2014-09-17			ENSG00000035403	ENSG00000035403			12665	protein-coding gene	gene with protein product	"""metavinculin"""	193065				1339348	Standard	NM_014000		Approved		uc001jwd.3	P18206	OTTHUMG00000018498	ENST00000211998.4:c.1480G>C	10.37:g.75854156G>C	ENSP00000211998:p.Glu494Gln					VCL_uc009xrr.2_Missense_Mutation_p.E243Q|VCL_uc010qky.1_Missense_Mutation_p.E401Q|VCL_uc001jwe.2_Missense_Mutation_p.E494Q|VCL_uc010qkz.1_Intron	p.E494Q	NM_014000	NP_054706	P18206	VINC_HUMAN			11	1574	+	Prostate(51;0.0112)		494			N-terminal globular head.|3.|3 X 112 AA tandem repeats.		Q16450|Q5SWX2|Q7Z3B8|Q8IXU7	Missense_Mutation	SNP	ENST00000211998.4	37	c.1480G>C	CCDS7341.1	.	.	.	.	.	.	.	.	.	.	G	21.6	4.178201	0.78564	.	.	ENSG00000035403	ENST00000372755;ENST00000211998;ENST00000415462;ENST00000537043;ENST00000436396	T;T;T	0.38722	1.12;1.12;1.12	5.47	5.47	0.80525	.	0.000000	0.85682	D	0.000000	T	0.54935	0.1889	L	0.35723	1.085	0.80722	D	1	D;D;P	0.63880	0.993;0.964;0.601	D;P;B	0.66847	0.947;0.7;0.403	T	0.46527	-0.9185	10	0.31617	T	0.26	.	19.378	0.94519	0.0:0.0:1.0:0.0	.	421;494;494	F5H7T3;P18206-2;P18206	.;.;VINC_HUMAN	Q	494;494;401;421;166	ENSP00000361841:E494Q;ENSP00000211998:E494Q;ENSP00000415489:E166Q	ENSP00000211998:E494Q	E	+	1	0	VCL	75524162	1.000000	0.71417	0.988000	0.46212	0.994000	0.84299	9.415000	0.97375	2.583000	0.87209	0.585000	0.79938	GAG		PASS	0.557	VCL-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_003373, NM_014000		17	38	17	38	---	---	---	---
LRIT1	26103	broad.mit.edu	37	10	85997240	85997240	+	Missense_Mutation	SNP	G	G	T			TCGA-22-4595-01A-01D-1267-08	TCGA-22-4595-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7fcf5123-2d1b-4666-9d39-a1aaf63cf954	850e8a4d-e0f6-4bd6-80f5-1c20e2b0e4f9	g.chr10:85997240G>T	ENST00000372105.3	-	2	346	c.325C>A	c.(325-327)Ctg>Atg	p.L109M		NM_015613.2	NP_056428.1	Q9P2V4	LRIT1_HUMAN	leucine-rich repeat, immunoglobulin-like and transmembrane domains 1	109						integral component of endoplasmic reticulum membrane (GO:0030176)		p.L109M(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|skin(1)	23						AGCTCCCGCAGGCGTCGCAGG	0.741																																						uc001kcz.1																			1	Substitution - Missense(1)		lung(1)		0						c.(325-327)CTG>ATG		retina specific protein PAL							5.0	7.0	6.0					10																	85997240		2076	4067	6143	SO:0001583	missense	26103					integral to endoplasmic reticulum membrane		g.chr10:85997240G>T	AB031547	CCDS7373.1	10q23	2013-02-11	2007-06-19	2007-06-19	ENSG00000148602	ENSG00000148602		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	23404	protein-coding gene	gene with protein product	"""fibronectin type III, immunoglobulin and leucine rich repeat domains 9"""		"""leucine rich repeat containing 21"""	LRRC21		10777785	Standard	NM_015613		Approved	PAL, DKFZP434K091, FIGLER9	uc001kcz.1	Q9P2V4	OTTHUMG00000018632	ENST00000372105.3:c.325C>A	10.37:g.85997240G>T	ENSP00000361177:p.Leu109Met						p.L109M	NM_015613	NP_056428	Q9P2V4	LRIT1_HUMAN			2	347	-			109			LRR 3.|Lumenal (Potential).		Q0QD41|Q9Y4N7	Missense_Mutation	SNP	ENST00000372105.3	37	c.325C>A	CCDS7373.1	.	.	.	.	.	.	.	.	.	.	G	24.7	4.562921	0.86335	.	.	ENSG00000148602	ENST00000372105	D	0.82984	-1.67	4.93	4.93	0.64822	.	0.173537	0.39407	N	0.001372	D	0.91284	0.7252	M	0.83384	2.64	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.92376	0.5909	10	0.87932	D	0	.	15.165	0.72818	0.0:0.0:1.0:0.0	.	109	Q9P2V4	LRIT1_HUMAN	M	109	ENSP00000361177:L109M	ENSP00000361177:L109M	L	-	1	2	LRIT1	85987220	0.930000	0.31532	1.000000	0.80357	0.997000	0.91878	1.340000	0.33896	2.557000	0.86248	0.655000	0.94253	CTG		PASS	0.741	LRIT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049109.1	NM_015613		7	15	7	15	---	---	---	---
DMBT1	1755	broad.mit.edu	37	10	124352026	124352026	+	Missense_Mutation	SNP	C	C	A	rs572119448	byFrequency	TCGA-22-4595-01A-01D-1267-08	TCGA-22-4595-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7fcf5123-2d1b-4666-9d39-a1aaf63cf954	850e8a4d-e0f6-4bd6-80f5-1c20e2b0e4f9	g.chr10:124352026C>A	ENST00000338354.3	+	20	2521	c.2415C>A	c.(2413-2415)caC>caA	p.H805Q	DMBT1_ENST00000330163.4_Intron|DMBT1_ENST00000368909.3_Missense_Mutation_p.H805Q|DMBT1_ENST00000359586.6_Intron|DMBT1_ENST00000368955.3_Missense_Mutation_p.H795Q|DMBT1_ENST00000368956.2_Intron|DMBT1_ENST00000344338.3_Missense_Mutation_p.H795Q			Q9UGM3	DMBT1_HUMAN	deleted in malignant brain tumors 1	805	SRCR 6. {ECO:0000255|PROSITE- ProRule:PRU00196}.				defense response to virus (GO:0051607)|epithelial cell differentiation (GO:0030855)|induction of bacterial agglutination (GO:0043152)|innate immune response (GO:0045087)|inner cell mass cell proliferation (GO:0001833)|pattern recognition receptor signaling pathway (GO:0002221)|positive regulation of epithelial cell differentiation (GO:0030858)|protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)|viral process (GO:0016032)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|phagocytic vesicle membrane (GO:0030670)|proteinaceous extracellular matrix (GO:0005578)|zymogen granule membrane (GO:0042589)	calcium-dependent protein binding (GO:0048306)|scavenger receptor activity (GO:0005044)|signaling pattern recognition receptor activity (GO:0008329)|zymogen binding (GO:0035375)	p.H805Q(3)		breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3)	72		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				GCTCAGGACACGAGTCCTACC	0.622																																					Ovarian(182;93 2026 18125 22222 38972)	uc001lgk.1																			3	Substitution - Missense(3)		lung(3)	central_nervous_system(7)	7						c.(2413-2415)CAC>CAA		deleted in malignant brain tumors 1 isoform b							146.0	106.0	119.0					10																	124352026		2024	4115	6139	SO:0001583	missense	1755				epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus	extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane	calcium-dependent protein binding|Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding	g.chr10:124352026C>A		CCDS44490.1, CCDS44491.1, CCDS44492.1	10q25.3-q26.1	2008-08-01			ENSG00000187908	ENSG00000187908			2926	protein-coding gene	gene with protein product		601969				9288095, 17548659	Standard	NM_004406		Approved	GP340, muclin	uc001lgk.1	Q9UGM3	OTTHUMG00000019185	ENST00000338354.3:c.2415C>A	10.37:g.124352026C>A	ENSP00000342210:p.His805Gln					DMBT1_uc001lgl.1_Missense_Mutation_p.H795Q|DMBT1_uc001lgm.1_Intron|DMBT1_uc009xzz.1_Missense_Mutation_p.H805Q|DMBT1_uc010qtx.1_Intron|DMBT1_uc009yaa.1_Missense_Mutation_p.H418Q	p.H805Q	NM_007329	NP_015568	Q9UGM3	DMBT1_HUMAN			20	2521	+		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)	805			SRCR 6.		A6NDG4|A6NDJ5|A8E4R5|B1ARE7|B1ARE8|B1ARE9|B1ARF0|B7Z8Y2|F8WEF7|Q59EX0|Q5JR26|Q6MZN4|Q96DU4|Q9UGM2|Q9UJ57|Q9UKJ4|Q9Y211|Q9Y4V9	Missense_Mutation	SNP	ENST00000338354.3	37	c.2415C>A		.	.	.	.	.	.	.	.	.	.	c	0.004	-2.284464	0.00251	.	.	ENSG00000187908	ENST00000338354;ENST00000368915;ENST00000341278;ENST00000368953;ENST00000339871;ENST00000368942;ENST00000344338;ENST00000368909;ENST00000368955	T;T;T;T	0.43688	0.94;0.94;0.94;0.94	3.9	-7.8	0.01214	Speract/scavenger receptor (2);Speract/scavenger receptor-related (2);	.	.	.	.	T	0.21103	0.0508	N	0.20845	0.615	0.35301	D	0.78301	B;B;B;B	0.20988	0.05;0.0;0.0;0.0	B;B;B;B	0.20955	0.032;0.001;0.001;0.002	T	0.37384	-0.9708	9	0.12766	T	0.61	.	11.127	0.48324	0.0:0.1725:0.327:0.5005	.	566;805;795;805	Q9UGM3-4;Q9UGM3-6;Q9UGM3-3;Q9UGM3	.;.;.;DMBT1_HUMAN	Q	805;805;805;805;805;805;795;805;795	ENSP00000342210:H805Q;ENSP00000343175:H795Q;ENSP00000357905:H805Q;ENSP00000357951:H795Q	ENSP00000342210:H805Q	H	+	3	2	DMBT1	124342016	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-8.377000	0.00021	-3.992000	0.00084	-4.128000	0.00010	CAC		PASS	0.622	DMBT1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000050792.2	NM_004406		4	124	4	124	---	---	---	---
SYCE1	93426	broad.mit.edu	37	10	135370274	135370274	+	Missense_Mutation	SNP	A	A	T			TCGA-22-4595-01A-01D-1267-08	TCGA-22-4595-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7fcf5123-2d1b-4666-9d39-a1aaf63cf954	850e8a4d-e0f6-4bd6-80f5-1c20e2b0e4f9	g.chr10:135370274A>T	ENST00000343131.5	-	8	621	c.517T>A	c.(517-519)Tgg>Agg	p.W173R	SYCE1_ENST00000432597.2_Missense_Mutation_p.W137R|SPRN_ENST00000541506.1_Intron|SYCE1_ENST00000368517.3_Missense_Mutation_p.W137R	NM_001143764.1	NP_001137236.1	Q8N0S2	SYCE1_HUMAN	synaptonemal complex central element protein 1	173					synaptonemal complex assembly (GO:0007130)	central element (GO:0000801)		p.W137R(1)|p.W173R(1)		breast(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(2)|stomach(3)|urinary_tract(1)	19		all_cancers(35;7.01e-07)|all_epithelial(44;1.45e-05)|Lung NSC(174;0.027)|all_lung(145;0.0384)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)		OV - Ovarian serous cystadenocarcinoma(35;1.12e-06)|all cancers(32;1.43e-06)|Epithelial(32;1.71e-06)		TGGAAGTCCCAGAGGTCCTTG	0.572																																						uc001lno.2																			2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(517-519)TGG>AGG		synaptonemal complex central element protein 1							83.0	71.0	75.0					10																	135370274		2200	4290	6490	SO:0001583	missense	93426				cell division	central element		g.chr10:135370274A>T	AY027808	CCDS7687.1, CCDS44500.1, CCDS44501.1	10q26.3	2009-03-12	2005-09-27	2005-09-27	ENSG00000171772	ENSG00000171772			28852	protein-coding gene	gene with protein product	"""cancer/testis antigen 76"""	611486	"""chromosome 10 open reading frame 94"""	C10orf94		11829491	Standard	NM_130784		Approved	bA108K14.6, CT76	uc001lno.2	Q8N0S2	OTTHUMG00000019321	ENST00000343131.5:c.517T>A	10.37:g.135370274A>T	ENSP00000341282:p.Trp173Arg					CYP2E1_uc001lnl.1_3'UTR|SYCE1_uc001lnm.2_Missense_Mutation_p.W45R|SYCE1_uc009ybn.2_Missense_Mutation_p.W173R|SYCE1_uc001lnn.2_Missense_Mutation_p.W137R	p.W173R	NM_001143764	NP_001137236	Q8N0S2	SYCE1_HUMAN		OV - Ovarian serous cystadenocarcinoma(35;1.12e-06)|all cancers(32;1.43e-06)|Epithelial(32;1.71e-06)	8	622	-		all_cancers(35;7.01e-07)|all_epithelial(44;1.45e-05)|Lung NSC(174;0.027)|all_lung(145;0.0384)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)	173			Potential.		B2RC80|Q9BWU3|Q9BWU4	Missense_Mutation	SNP	ENST00000343131.5	37	c.517T>A	CCDS44501.1	.	.	.	.	.	.	.	.	.	.	A	16.22	3.061560	0.55432	.	.	ENSG00000171772	ENST00000303903;ENST00000432597;ENST00000368517;ENST00000343131	T;T;T;T	0.35236	1.32;1.32;1.32;1.32	4.4	2.02	0.26589	.	0.279671	0.31697	N	0.007217	T	0.43722	0.1260	M	0.68317	2.08	0.22531	N	0.999016	P;D;P	0.53745	0.899;0.962;0.899	P;P;P	0.55545	0.667;0.778;0.466	T	0.30387	-0.9980	10	0.72032	D	0.01	0.3368	3.8398	0.08909	0.7143:0.0:0.1003:0.1854	.	45;173;137	Q8N0S2-3;Q8N0S2;Q8N0S2-2	.;SYCE1_HUMAN;.	R	173;137;137;173	ENSP00000303978:W173R;ENSP00000411779:W137R;ENSP00000357503:W137R;ENSP00000341282:W173R	ENSP00000303978:W173R	W	-	1	0	SYCE1	135220264	1.000000	0.71417	0.994000	0.49952	0.809000	0.45718	1.311000	0.33562	0.437000	0.26423	0.533000	0.62120	TGG		PASS	0.572	SYCE1-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_201564		6	13	6	13	---	---	---	---
MUC2	4583	broad.mit.edu	37	11	1088727	1088727	+	Missense_Mutation	SNP	G	G	T			TCGA-22-4595-01A-01D-1267-08	TCGA-22-4595-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7fcf5123-2d1b-4666-9d39-a1aaf63cf954	850e8a4d-e0f6-4bd6-80f5-1c20e2b0e4f9	g.chr11:1088727G>T	ENST00000441003.2	+	26	3539	c.3512G>T	c.(3511-3513)aGg>aTg	p.R1171M	MUC2_ENST00000359061.5_Missense_Mutation_p.R1171M	NM_002457.2	NP_002448.2	Q02817	MUC2_HUMAN	mucin 2, oligomeric mucus/gel-forming	1171					cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	Golgi lumen (GO:0005796)|inner mucus layer (GO:0070702)|outer mucus layer (GO:0070703)		p.R1171M(2)		NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	102		all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)		BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Pranlukast(DB01411)	CCCAAGGACAGGCCCATCTAT	0.622																																						uc001lsx.1																			2	Substitution - Missense(2)		lung(2)	lung(1)|breast(1)	2						c.(3511-3513)AGG>ATG		mucin 2 precursor	Pranlukast(DB01411)						55.0	62.0	60.0					11																	1088727		2067	4191	6258	SO:0001583	missense	4583					inner mucus layer|outer mucus layer	protein binding	g.chr11:1088727G>T	L21998		11p15.5	2011-01-28	2006-03-14		ENSG00000198788	ENSG00000198788		"""Mucins"""	7512	protein-coding gene	gene with protein product		158370	"""mucin 2, intestinal/tracheal"""			15081123	Standard	NM_002457		Approved		uc001lsx.1	Q02817	OTTHUMG00000156800	ENST00000441003.2:c.3512G>T	11.37:g.1088727G>T	ENSP00000415183:p.Arg1171Met						p.R1171M	NM_002457	NP_002448	Q02817	MUC2_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	26	3539	+		all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)	1171					Q14878	Missense_Mutation	SNP	ENST00000441003.2	37	c.3512G>T		.	.	.	.	.	.	.	.	.	.	G	9.510	1.105506	0.20632	.	.	ENSG00000198788	ENST00000441003;ENST00000359061	T;T	0.54279	0.58;0.58	3.57	0.00346	0.14055	.	0.642485	0.12257	U	0.485126	T	0.41581	0.1165	L	0.43757	1.38	0.09310	N	1	P	0.37612	0.602	B	0.39660	0.306	T	0.31503	-0.9941	10	0.52906	T	0.07	.	4.7297	0.12959	0.2801:0.3066:0.4133:0.0	.	1171	E7EUV1	.	M	1171	ENSP00000415183:R1171M;ENSP00000351956:R1171M	ENSP00000351956:R1171M	R	+	2	0	MUC2	1078727	0.000000	0.05858	0.079000	0.20413	0.883000	0.51084	0.270000	0.18607	0.159000	0.19401	0.456000	0.33151	AGG		PASS	0.622	MUC2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000345894.2	NM_002457		7	18	7	18	---	---	---	---
TRPM5	29850	broad.mit.edu	37	11	2444157	2444157	+	Missense_Mutation	SNP	C	C	G			TCGA-22-4595-01A-01D-1267-08	TCGA-22-4595-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7fcf5123-2d1b-4666-9d39-a1aaf63cf954	850e8a4d-e0f6-4bd6-80f5-1c20e2b0e4f9	g.chr11:2444157C>G	ENST00000155858.6	-	1	118	c.110G>C	c.(109-111)cGa>cCa	p.R37P	TRPM5_ENST00000533060.1_Missense_Mutation_p.R37P|TRPM5_ENST00000528453.1_Missense_Mutation_p.R37P|TRPM5_ENST00000452833.1_Missense_Mutation_p.R37P	NM_014555.3	NP_055370.1			transient receptor potential cation channel, subfamily M, member 5									p.R37P(1)		breast(1)|central_nervous_system(1)|endometrium(4)|liver(1)|lung(8)|ovary(2)|prostate(2)|skin(2)|urinary_tract(2)	23		Medulloblastoma(188;0.0049)|Breast(177;0.00586)|all_epithelial(84;0.0075)|Ovarian(85;0.0256)|all_neural(188;0.0311)		BRCA - Breast invasive adenocarcinoma(625;0.00147)|LUSC - Lung squamous cell carcinoma(625;0.191)		TACCTTGCCTCGCTTCTTCCC	0.657																																					NSCLC(1;49 61 17205 18850 43201)	uc001lwm.3																			1	Substitution - Missense(1)		lung(1)	ovary(1)|breast(1)|central_nervous_system(1)|skin(1)	4						c.(109-111)CGA>CCA		transient receptor potential cation channel,							78.0	72.0	74.0					11																	2444157		2202	4299	6501	SO:0001583	missense	29850					integral to membrane|plasma membrane	receptor activity|voltage-gated ion channel activity	g.chr11:2444157C>G	AF177473	CCDS31340.1	11p15.5	2011-12-14			ENSG00000070985	ENSG00000070985		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	14323	protein-coding gene	gene with protein product		604600				10607831, 16382100	Standard	NM_014555		Approved	LTRPC5, MTR1	uc001lwm.4	Q9NZQ8	OTTHUMG00000009896	ENST00000155858.6:c.110G>C	11.37:g.2444157C>G	ENSP00000155858:p.Arg37Pro					TRPM5_uc010qxl.1_Missense_Mutation_p.R37P|TRPM5_uc009ydn.2_Missense_Mutation_p.R37P	p.R37P	NM_014555	NP_055370	Q9NZQ8	TRPM5_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.00147)|LUSC - Lung squamous cell carcinoma(625;0.191)	1	119	-		Medulloblastoma(188;0.0049)|Breast(177;0.00586)|all_epithelial(84;0.0075)|Ovarian(85;0.0256)|all_neural(188;0.0311)	37			Cytoplasmic (Potential).			Missense_Mutation	SNP	ENST00000155858.6	37	c.110G>C	CCDS31340.1	.	.	.	.	.	.	.	.	.	.	c	13.03	2.115066	0.37339	.	.	ENSG00000070985	ENST00000533881;ENST00000155858;ENST00000452833;ENST00000533060;ENST00000528453;ENST00000437542	T;T;T;T;T	0.65549	-0.16;-0.16;-0.16;-0.16;-0.16	2.84	-0.28	0.12886	.	0.268702	0.22221	U	0.062957	T	0.43478	0.1249	L	0.45051	1.395	0.29587	N	0.848712	B;B;B	0.14438	0.01;0.005;0.001	B;B;B	0.17433	0.018;0.018;0.009	T	0.15378	-1.0439	10	0.25106	T	0.35	-6.0E-4	2.2148	0.03957	0.2494:0.4521:0.0:0.2985	.	37;37;37	E9PRW0;Q9NZQ8-2;Q9NZQ8	.;.;TRPM5_HUMAN	P	29;37;37;37;37;37	ENSP00000434383:R29P;ENSP00000155858:R37P;ENSP00000387965:R37P;ENSP00000434121:R37P;ENSP00000436809:R37P	ENSP00000155858:R37P	R	-	2	0	TRPM5	2400733	0.000000	0.05858	0.992000	0.48379	0.998000	0.95712	0.052000	0.14163	0.082000	0.17018	0.651000	0.88453	CGA		PASS	0.657	TRPM5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000027378.1	NM_014555		43	107	43	107	---	---	---	---
OR52J3	119679	broad.mit.edu	37	11	5068057	5068057	+	Missense_Mutation	SNP	C	C	A			TCGA-22-4595-01A-01D-1267-08	TCGA-22-4595-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7fcf5123-2d1b-4666-9d39-a1aaf63cf954	850e8a4d-e0f6-4bd6-80f5-1c20e2b0e4f9	g.chr11:5068057C>A	ENST00000380370.1	+	1	302	c.302C>A	c.(301-303)gCc>gAc	p.A101D		NM_001001916.2	NP_001001916.2	Q8NH60	O52J3_HUMAN	olfactory receptor, family 52, subfamily J, member 3	101						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.A101D(1)		NS(1)|endometrium(1)|kidney(6)|large_intestine(6)|lung(19)|ovary(1)|skin(2)	36		Medulloblastoma(188;0.00131)|all_neural(188;0.0189)|Breast(177;0.0204)		Epithelial(150;9.29e-10)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.19)		GCTTGTGTGGCCCAGATGTTT	0.493																																						uc010qyv.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|lung(1)|skin(1)	3						c.(301-303)GCC>GAC		olfactory receptor, family 52, subfamily J,							132.0	109.0	117.0					11																	5068057		2201	4298	6499	SO:0001583	missense	119679				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:5068057C>A	AB065530	CCDS31370.1	11p15.4	2012-08-09			ENSG00000205495	ENSG00000205495		"""GPCR / Class A : Olfactory receptors"""	14799	protein-coding gene	gene with protein product							Standard	NM_001001916		Approved		uc010qyv.2	Q8NH60	OTTHUMG00000066600	ENST00000380370.1:c.302C>A	11.37:g.5068057C>A	ENSP00000369728:p.Ala101Asp						p.A101D	NM_001001916	NP_001001916	Q8NH60	O52J3_HUMAN		Epithelial(150;9.29e-10)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.19)	1	302	+		Medulloblastoma(188;0.00131)|all_neural(188;0.0189)|Breast(177;0.0204)	101			Extracellular (Potential).		Q6IFE4	Missense_Mutation	SNP	ENST00000380370.1	37	c.302C>A	CCDS31370.1	.	.	.	.	.	.	.	.	.	.	C	16.31	3.085940	0.55861	.	.	ENSG00000205495	ENST00000380370	T	0.03065	4.06	4.19	3.27	0.37495	GPCR, rhodopsin-like superfamily (1);	0.501627	0.16794	N	0.199275	T	0.16685	0.0401	M	0.92923	3.36	0.22280	N	0.999231	P	0.51653	0.947	P	0.55161	0.77	T	0.06338	-1.0832	10	0.87932	D	0	.	8.401	0.32586	0.0:0.8069:0.0:0.1931	.	101	Q8NH60	O52J3_HUMAN	D	101	ENSP00000369728:A101D	ENSP00000369728:A101D	A	+	2	0	OR52J3	5024633	0.000000	0.05858	0.997000	0.53966	0.797000	0.45037	0.658000	0.24979	0.959000	0.37980	-0.150000	0.13652	GCC		PASS	0.493	OR52J3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142807.1	NM_001001916		33	69	33	69	---	---	---	---
OR52J3	119679	broad.mit.edu	37	11	5068180	5068180	+	Missense_Mutation	SNP	T	T	A			TCGA-22-4595-01A-01D-1267-08	TCGA-22-4595-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7fcf5123-2d1b-4666-9d39-a1aaf63cf954	850e8a4d-e0f6-4bd6-80f5-1c20e2b0e4f9	g.chr11:5068180T>A	ENST00000380370.1	+	1	425	c.425T>A	c.(424-426)gTg>gAg	p.V142E		NM_001001916.2	NP_001001916.2	Q8NH60	O52J3_HUMAN	olfactory receptor, family 52, subfamily J, member 3	142						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.V142E(1)		NS(1)|endometrium(1)|kidney(6)|large_intestine(6)|lung(19)|ovary(1)|skin(2)	36		Medulloblastoma(188;0.00131)|all_neural(188;0.0189)|Breast(177;0.0204)		Epithelial(150;9.29e-10)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.19)		ACATCCCAAGTGTTGGTGGGC	0.478																																						uc010qyv.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|lung(1)|skin(1)	3						c.(424-426)GTG>GAG		olfactory receptor, family 52, subfamily J,							184.0	119.0	141.0					11																	5068180		2201	4298	6499	SO:0001583	missense	119679				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:5068180T>A	AB065530	CCDS31370.1	11p15.4	2012-08-09			ENSG00000205495	ENSG00000205495		"""GPCR / Class A : Olfactory receptors"""	14799	protein-coding gene	gene with protein product							Standard	NM_001001916		Approved		uc010qyv.2	Q8NH60	OTTHUMG00000066600	ENST00000380370.1:c.425T>A	11.37:g.5068180T>A	ENSP00000369728:p.Val142Glu						p.V142E	NM_001001916	NP_001001916	Q8NH60	O52J3_HUMAN		Epithelial(150;9.29e-10)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.19)	1	425	+		Medulloblastoma(188;0.00131)|all_neural(188;0.0189)|Breast(177;0.0204)	142			Helical; Name=4; (Potential).		Q6IFE4	Missense_Mutation	SNP	ENST00000380370.1	37	c.425T>A	CCDS31370.1	.	.	.	.	.	.	.	.	.	.	T	9.110	1.006321	0.19199	.	.	ENSG00000205495	ENST00000380370	T	0.39229	1.09	4.19	4.19	0.49359	GPCR, rhodopsin-like superfamily (1);	0.164063	0.28393	N	0.015520	T	0.67040	0.2851	M	0.92880	3.355	0.09310	N	1	P	0.50272	0.933	D	0.65010	0.931	T	0.62167	-0.6911	10	0.87932	D	0	.	7.7819	0.29070	0.0:0.0999:0.0:0.9001	.	142	Q8NH60	O52J3_HUMAN	E	142	ENSP00000369728:V142E	ENSP00000369728:V142E	V	+	2	0	OR52J3	5024756	0.009000	0.17119	0.037000	0.18230	0.003000	0.03518	1.525000	0.35953	1.742000	0.51746	0.533000	0.62120	GTG		PASS	0.478	OR52J3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142807.1	NM_001001916		25	54	25	54	---	---	---	---
SLC6A5	9152	broad.mit.edu	37	11	20657899	20657899	+	Silent	SNP	G	G	T			TCGA-22-4595-01A-01D-1267-08	TCGA-22-4595-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7fcf5123-2d1b-4666-9d39-a1aaf63cf954	850e8a4d-e0f6-4bd6-80f5-1c20e2b0e4f9	g.chr11:20657899G>T	ENST00000525748.1	+	11	1944	c.1671G>T	c.(1669-1671)ctG>ctT	p.L557L	SLC6A5_ENST00000528440.1_3'UTR	NM_004211.3	NP_004202.2	Q9Y345	SC6A5_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 5	557					glycine import (GO:0036233)|synaptic transmission (GO:0007268)|synaptic transmission, glycinergic (GO:0060012)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	glycine:sodium symporter activity (GO:0015375)|neurotransmitter:sodium symporter activity (GO:0005328)	p.L557L(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(34)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	63					Glycine(DB00145)	TAACCAGGCTGCCTCTCTCTC	0.527																																						uc001mqd.2																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|breast(1)|skin(1)	4						c.(1669-1671)CTG>CTT		solute carrier family 6 (neurotransmitter	Glycine(DB00145)						178.0	140.0	153.0					11																	20657899		2203	4300	6503	SO:0001819	synonymous_variant	9152				synaptic transmission	integral to membrane|plasma membrane	glycine:sodium symporter activity|neurotransmitter:sodium symporter activity	g.chr11:20657899G>T	AF085412	CCDS7854.1	11p15.1	2013-07-19	2013-07-19		ENSG00000165970	ENSG00000165970		"""Solute carriers"""	11051	protein-coding gene	gene with protein product	"""glycine transporter 2"""	604159	"""solute carrier family 6 (neurotransmitter transporter, glycine), member 5"""	NET1		9845349	Standard	NM_004211		Approved	GLYT2	uc001mqd.3	Q9Y345	OTTHUMG00000166024	ENST00000525748.1:c.1671G>T	11.37:g.20657899G>T						SLC6A5_uc009yic.2_Silent_p.L322L	p.L557L	NM_004211	NP_004202	Q9Y345	SC6A5_HUMAN			11	1944	+			557			Helical; Name=8; (Potential).		O95288|Q4VAM7|Q9BX77	Silent	SNP	ENST00000525748.1	37	c.1671G>T	CCDS7854.1																																																																																				PASS	0.527	SLC6A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387497.2	NM_004211		25	95	25	95	---	---	---	---
ACCSL	390110	broad.mit.edu	37	11	44074600	44074600	+	Silent	SNP	G	G	C			TCGA-22-4595-01A-01D-1267-08	TCGA-22-4595-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7fcf5123-2d1b-4666-9d39-a1aaf63cf954	850e8a4d-e0f6-4bd6-80f5-1c20e2b0e4f9	g.chr11:44074600G>C	ENST00000378832.1	+	7	986	c.930G>C	c.(928-930)ctG>ctC	p.L310L		NM_001031854.2	NP_001027025.2	Q4AC99	1A1L2_HUMAN	1-aminocyclopropane-1-carboxylate synthase homolog (Arabidopsis)(non-functional)-like	310					biosynthetic process (GO:0009058)		catalytic activity (GO:0003824)|pyridoxal phosphate binding (GO:0030170)	p.L310L(1)		central_nervous_system(1)|endometrium(6)|large_intestine(5)|lung(14)|ovary(5)|pancreas(1)|skin(2)	34						AGGAAGCCCTGCTTGAAGCTA	0.438																																						uc001mxw.1																			1	Substitution - coding silent(1)		lung(1)	ovary(5)	5						c.(928-930)CTG>CTC		1-aminocyclopropane-1-carboxylate synthase							90.0	90.0	90.0					11																	44074600		1903	4139	6042	SO:0001819	synonymous_variant	390110						1-aminocyclopropane-1-carboxylate synthase activity|pyridoxal phosphate binding|transferase activity, transferring nitrogenous groups	g.chr11:44074600G>C		CCDS41636.1	11p11.2	2008-11-26			ENSG00000205126	ENSG00000205126			34391	protein-coding gene	gene with protein product							Standard	NM_001031854		Approved		uc001mxw.1	Q4AC99	OTTHUMG00000166426	ENST00000378832.1:c.930G>C	11.37:g.44074600G>C						ACCSL_uc009ykr.2_Silent_p.L129L	p.L310L	NM_001031854	NP_001027025	Q4AC99	1A1L2_HUMAN			7	986	+			310						Silent	SNP	ENST00000378832.1	37	c.930G>C	CCDS41636.1																																																																																				PASS	0.438	ACCSL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389717.1	NM_001031854		42	157	42	157	---	---	---	---
DGKZ	8525	broad.mit.edu	37	11	46394213	46394213	+	Missense_Mutation	SNP	G	G	A			TCGA-22-4595-01A-01D-1267-08	TCGA-22-4595-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7fcf5123-2d1b-4666-9d39-a1aaf63cf954	850e8a4d-e0f6-4bd6-80f5-1c20e2b0e4f9	g.chr11:46394213G>A	ENST00000454345.1	+	13	1746	c.1621G>A	c.(1621-1623)Ggg>Agg	p.G541R	DGKZ_ENST00000318201.8_Missense_Mutation_p.G330R|DGKZ_ENST00000528615.1_Missense_Mutation_p.G131R|DGKZ_ENST00000527911.1_Missense_Mutation_p.G353R|DGKZ_ENST00000543978.1_Intron|DGKZ_ENST00000421244.2_Missense_Mutation_p.G353R|DGKZ_ENST00000456247.2_Missense_Mutation_p.G352R|DGKZ_ENST00000532868.2_Missense_Mutation_p.G357R|DGKZ_ENST00000395574.3_Missense_Mutation_p.G319R|DGKZ_ENST00000343674.6_Missense_Mutation_p.G369R	NM_001105540.1	NP_001099010.1	Q13574	DGKZ_HUMAN	diacylglycerol kinase, zeta	541	DAGKc. {ECO:0000255|PROSITE- ProRule:PRU00783}.|Mediates interaction with RASGRP1.				blood coagulation (GO:0007596)|cell migration (GO:0016477)|intracellular signal transduction (GO:0035556)|lipid phosphorylation (GO:0046834)|mitotic G1 DNA damage checkpoint (GO:0031571)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of Ras protein signal transduction (GO:0046580)|phosphorylation (GO:0016310)|platelet activation (GO:0030168)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)	cytoplasm (GO:0005737)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|diacylglycerol kinase activity (GO:0004143)|enzyme inhibitor activity (GO:0004857)|lipid kinase activity (GO:0001727)|metal ion binding (GO:0046872)|NAD+ kinase activity (GO:0003951)|protein C-terminus binding (GO:0008022)	p.G369R(1)|p.G541R(1)|p.G353R(1)		central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(12)|pancreas(1)|prostate(1)|skin(1)	25				GBM - Glioblastoma multiforme(35;0.0259)|Lung(87;0.141)		CCTGGCGTGCGGGGGCGACGG	0.662																																						uc001ncn.1																			3	Substitution - Missense(3)		lung(3)	pancreas(1)|central_nervous_system(1)|skin(1)	3						c.(1621-1623)GGG>AGG		diacylglycerol kinase zeta isoform 4							48.0	44.0	45.0					11																	46394213		2202	4299	6501	SO:0001583	missense	8525				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|cell migration|intracellular signal transduction|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of mitotic cell cycle|platelet activation	cytoplasm|lamellipodium|nucleus|plasma membrane	ATP binding|diacylglycerol kinase activity|diacylglycerol kinase activity|lipid kinase activity|metal ion binding|protein binding|protein C-terminus binding	g.chr11:46394213G>A	U51477	CCDS7918.1, CCDS41640.1, CCDS44579.1, CCDS44580.1, CCDS55757.1, CCDS55758.1, CCDS55759.1, CCDS44579.2	11p11.2	2010-11-24	2010-11-24		ENSG00000149091	ENSG00000149091	2.7.1.107		2857	protein-coding gene	gene with protein product		601441	"""diacylglycerol kinase, zeta 104kDa"""			8626588	Standard	NM_003646		Approved	DAGK5, hDGKzeta, DGK-ZETA, DAGK6	uc001ncn.1	Q13574	OTTHUMG00000166437	ENST00000454345.1:c.1621G>A	11.37:g.46394213G>A	ENSP00000412178:p.Gly541Arg					DGKZ_uc001nch.1_Missense_Mutation_p.G369R|DGKZ_uc010rgq.1_Missense_Mutation_p.G296R|DGKZ_uc001ncj.1_Missense_Mutation_p.G319R|DGKZ_uc010rgr.1_Missense_Mutation_p.G318R|DGKZ_uc001nck.1_Missense_Mutation_p.G131R|DGKZ_uc001ncl.2_Missense_Mutation_p.G353R|DGKZ_uc001ncm.2_Missense_Mutation_p.G352R|DGKZ_uc009yky.1_Missense_Mutation_p.G353R|DGKZ_uc010rgs.1_Missense_Mutation_p.G330R	p.G541R	NM_001105540	NP_001099010	Q13574	DGKZ_HUMAN		GBM - Glioblastoma multiforme(35;0.0259)|Lung(87;0.141)	13	1746	+			541			DAGKc.|Mediates interaction with RASGRP1.		B7Z2M9|B7Z6M3|E9PPW4|F6UCU9|G3V0F6|J3KNJ6|O00542|Q6ZVG7|Q8IVW9	Missense_Mutation	SNP	ENST00000454345.1	37	c.1621G>A	CCDS41640.1	.	.	.	.	.	.	.	.	.	.	G	27.5	4.836270	0.91117	.	.	ENSG00000149091	ENST00000343674;ENST00000528615;ENST00000395574;ENST00000532868;ENST00000527911;ENST00000456247;ENST00000421244;ENST00000318201;ENST00000454345	D;D;D;D;D;D;D;D;D	0.85702	-2.02;-2.02;-2.02;-2.02;-2.02;-2.02;-2.02;-2.02;-2.02	4.02	4.02	0.46733	Diacylglycerol kinase, catalytic domain (3);	0.000000	0.85682	D	0.000000	D	0.95664	0.8590	H	0.98996	4.395	0.80722	D	1	D;D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	D	0.97815	1.0253	10	0.87932	D	0	.	16.7133	0.85391	0.0:0.0:1.0:0.0	.	330;318;296;353;541;352;353;319;369	B7Z2M9;B7Z6M3;B7Z8F6;E9PPW4;Q13574;Q13574-2;G3V0F6;A8MVN1;Q6ZVG7	.;.;.;.;DGKZ_HUMAN;.;.;.;.	R	369;131;319;318;353;352;353;330;541	ENSP00000343065:G369R;ENSP00000434719:G131R;ENSP00000378941:G319R;ENSP00000436273:G318R;ENSP00000436291:G353R;ENSP00000395684:G352R;ENSP00000391021:G353R;ENSP00000320340:G330R;ENSP00000412178:G541R	ENSP00000320340:G330R	G	+	1	0	DGKZ	46350789	1.000000	0.71417	0.943000	0.38184	0.974000	0.67602	6.359000	0.73060	2.258000	0.74832	0.467000	0.42956	GGG		PASS	0.662	DGKZ-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000389772.1	NM_001105540		16	57	16	57	---	---	---	---
TRIM48	79097	broad.mit.edu	37	11	55032464	55032464	+	Missense_Mutation	SNP	G	G	T			TCGA-22-4595-01A-01D-1267-08	TCGA-22-4595-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7fcf5123-2d1b-4666-9d39-a1aaf63cf954	850e8a4d-e0f6-4bd6-80f5-1c20e2b0e4f9	g.chr11:55032464G>T	ENST00000417545.2	+	2	219	c.133G>T	c.(133-135)Gac>Tac	p.D45Y		NM_024114.3	NP_077019.2	Q8IWZ4	TRI48_HUMAN	tripartite motif containing 48	29						intracellular (GO:0005622)	zinc ion binding (GO:0008270)	p.D45Y(1)|p.D29Y(1)		endometrium(13)|lung(19)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	38						GGTCACCATAGACTGTGGGCA	0.468																																						uc010rid.1																			2	Substitution - Missense(2)		lung(2)		0						c.(133-135)GAC>TAC		tripartite motif-containing 48							91.0	93.0	92.0					11																	55032464		2191	4260	6451	SO:0001583	missense	79097					intracellular	zinc ion binding	g.chr11:55032464G>T	AF521869	CCDS7947.2	11q12	2013-01-09	2011-01-25		ENSG00000150244	ENSG00000150244		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	19021	protein-coding gene	gene with protein product			"""tripartite motif-containing 48"""				Standard	NM_024114		Approved	RNF101	uc010rid.2	Q8IWZ4	OTTHUMG00000157011	ENST00000417545.2:c.133G>T	11.37:g.55032464G>T	ENSP00000402414:p.Asp45Tyr						p.D45Y	NM_024114	NP_077019	Q8IWZ4	TRI48_HUMAN			2	219	+			29			RING-type.		Q9BUW4	Missense_Mutation	SNP	ENST00000417545.2	37	c.133G>T	CCDS7947.2	.	.	.	.	.	.	.	.	.	.	g	12.16	1.853915	0.32791	.	.	ENSG00000150244	ENST00000417545	T	0.08634	3.07	0.596	0.596	0.17496	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-type (2);Zinc finger, C3HC4 RING-type (1);	.	.	.	.	T	0.20455	0.0492	L	0.58925	1.835	0.22112	N	0.999357	D	0.89917	1.0	D	0.97110	1.0	T	0.05566	-1.0877	9	0.72032	D	0.01	.	7.1377	0.25537	1.0E-4:0.0:0.9999:0.0	.	29	Q8IWZ4	TRI48_HUMAN	Y	45	ENSP00000402414:D45Y	ENSP00000402414:D45Y	D	+	1	0	TRIM48	54789040	0.900000	0.30661	0.192000	0.23308	0.246000	0.25737	0.972000	0.29409	0.629000	0.30376	0.413000	0.27773	GAC		PASS	0.468	TRIM48-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347088.1			7	446	7	446	---	---	---	---
OR5L2	26338	broad.mit.edu	37	11	55595086	55595086	+	Missense_Mutation	SNP	T	T	C			TCGA-22-4595-01A-01D-1267-08	TCGA-22-4595-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7fcf5123-2d1b-4666-9d39-a1aaf63cf954	850e8a4d-e0f6-4bd6-80f5-1c20e2b0e4f9	g.chr11:55595086T>C	ENST00000378397.1	+	1	392	c.392T>C	c.(391-393)cTg>cCg	p.L131P		NM_001004739.1	NP_001004739.1	Q8NGL0	OR5L2_HUMAN	olfactory receptor, family 5, subfamily L, member 2	131						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.L131P(1)		breast(2)|kidney(1)|large_intestine(1)|lung(42)|ovary(1)|prostate(3)|skin(1)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	59		all_epithelial(135;0.208)				AACCCCCTGCTGTACATGGTG	0.522										HNSCC(27;0.073)																												uc001nhy.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(391-393)CTG>CCG		olfactory receptor, family 5, subfamily L,							205.0	179.0	188.0					11																	55595086		2200	4296	6496	SO:0001583	missense	26338				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55595086T>C	AB065782	CCDS31511.1	11q11	2012-08-09			ENSG00000205030	ENSG00000205030		"""GPCR / Class A : Olfactory receptors"""	8351	protein-coding gene	gene with protein product						1370859	Standard	NM_001004739		Approved	HTPCRX16, HSHTPCRX16	uc001nhy.1	Q8NGL0	OTTHUMG00000166812	ENST00000378397.1:c.392T>C	11.37:g.55595086T>C	ENSP00000367650:p.Leu131Pro	HNSCC(27;0.073)					p.L131P	NM_001004739	NP_001004739	Q8NGL0	OR5L2_HUMAN			1	392	+		all_epithelial(135;0.208)	131			Cytoplasmic (Potential).		Q6IF66|Q96RB2	Missense_Mutation	SNP	ENST00000378397.1	37	c.392T>C	CCDS31511.1	.	.	.	.	.	.	.	.	.	.	.	15.04	2.714701	0.48622	.	.	ENSG00000205030	ENST00000378397	T	0.01388	4.95	5.18	5.18	0.71444	GPCR, rhodopsin-like superfamily (1);	0.000000	0.39475	N	0.001342	T	0.10252	0.0251	M	0.93939	3.475	0.51767	D	0.999937	D	0.76494	0.999	D	0.67900	0.954	T	0.00055	-1.2180	10	0.72032	D	0.01	-13.5771	8.6874	0.34245	0.264:0.0:0.0:0.736	.	131	Q8NGL0	OR5L2_HUMAN	P	131	ENSP00000367650:L131P	ENSP00000367650:L131P	L	+	2	0	OR5L2	55351662	0.000000	0.05858	0.673000	0.29887	0.677000	0.39632	0.072000	0.14617	2.112000	0.64535	0.509000	0.49947	CTG		PASS	0.522	OR5L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391516.1	NM_001004739		94	298	94	298	---	---	---	---
OR10Q1	219960	broad.mit.edu	37	11	57995960	57995960	+	Missense_Mutation	SNP	T	T	C			TCGA-22-4595-01A-01D-1267-08	TCGA-22-4595-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7fcf5123-2d1b-4666-9d39-a1aaf63cf954	850e8a4d-e0f6-4bd6-80f5-1c20e2b0e4f9	g.chr11:57995960T>C	ENST00000316770.2	-	1	430	c.388A>G	c.(388-390)Atc>Gtc	p.I130V		NM_001004471.2	NP_001004471.1	Q8NGQ4	O10Q1_HUMAN	olfactory receptor, family 10, subfamily Q, member 1	130						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.I130V(1)		autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(26)|ovary(2)	35		Breast(21;0.0589)				GGGTGGCAGATAGCCACATAG	0.612																																						uc010rkd.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(388-390)ATC>GTC		olfactory receptor, family 10, subfamily Q,							86.0	72.0	76.0					11																	57995960		2201	4295	6496	SO:0001583	missense	219960				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:57995960T>C	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.388A>G	11.37:g.57995960T>C	ENSP00000314324:p.Ile130Val						p.I130V	NM_001004471	NP_001004471	Q8NGQ4	O10Q1_HUMAN			1	388	-		Breast(21;0.0589)	130			Cytoplasmic (Potential).		Q6IFG4	Missense_Mutation	SNP	ENST00000316770.2	37	c.388A>G	CCDS31547.1	.	.	.	.	.	.	.	.	.	.	T	14.05	2.419973	0.42918	.	.	ENSG00000180475	ENST00000316770	T	0.50813	0.73	4.45	4.45	0.53987	GPCR, rhodopsin-like superfamily (1);	0.000000	0.43416	D	0.000562	T	0.64405	0.2595	M	0.66439	2.03	0.27997	N	0.935433	D	0.67145	0.996	D	0.77557	0.99	T	0.59080	-0.7521	10	0.41790	T	0.15	.	13.055	0.58975	0.0:0.0:0.0:1.0	.	130	Q8NGQ4	O10Q1_HUMAN	V	130	ENSP00000314324:I130V	ENSP00000314324:I130V	I	-	1	0	OR10Q1	57752536	1.000000	0.71417	1.000000	0.80357	0.157000	0.22087	2.124000	0.42006	1.864000	0.54056	0.455000	0.32223	ATC		PASS	0.612	OR10Q1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394706.1	NM_001004471		15	65	15	65	---	---	---	---
OR5B12	390191	broad.mit.edu	37	11	58207164	58207164	+	Missense_Mutation	SNP	G	G	T			TCGA-22-4595-01A-01D-1267-08	TCGA-22-4595-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7fcf5123-2d1b-4666-9d39-a1aaf63cf954	850e8a4d-e0f6-4bd6-80f5-1c20e2b0e4f9	g.chr11:58207164G>T	ENST00000302572.2	-	1	482	c.461C>A	c.(460-462)gCa>gAa	p.A154E		NM_001004733.2	NP_001004733.1	Q96R08	OR5BC_HUMAN	olfactory receptor, family 5, subfamily B, member 12	154						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.A154E(1)		large_intestine(6)|liver(1)|lung(28)|ovary(1)|prostate(3)|skin(1)	40	Esophageal squamous(5;0.0027)	Breast(21;0.0778)				ATGAATGGATGCATTCAGGAA	0.453																																						uc010rkh.1																			1	Substitution - Missense(1)		lung(1)		0						c.(460-462)GCA>GAA		olfactory receptor, family 5, subfamily B,							138.0	129.0	132.0					11																	58207164		2201	4295	6496	SO:0001583	missense	390191				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:58207164G>T	AB065851	CCDS31551.1	11q12.1	2012-08-09		2004-03-10	ENSG00000172362	ENSG00000172362		"""GPCR / Class A : Olfactory receptors"""	15432	protein-coding gene	gene with protein product				OR5B12P, OR5B16		12213199	Standard	NM_001004733		Approved	OST743	uc010rkh.2	Q96R08	OTTHUMG00000167543	ENST00000302572.2:c.461C>A	11.37:g.58207164G>T	ENSP00000306657:p.Ala154Glu						p.A154E	NM_001004733	NP_001004733	Q96R08	OR5BC_HUMAN			1	461	-	Esophageal squamous(5;0.0027)	Breast(21;0.0778)	154			Helical; Name=4; (Potential).		B2RNL2|Q6IEV5	Missense_Mutation	SNP	ENST00000302572.2	37	c.461C>A	CCDS31551.1	.	.	.	.	.	.	.	.	.	.	G	15.05	2.717084	0.48622	.	.	ENSG00000172362	ENST00000302572	T	0.42513	0.97	4.44	4.44	0.53790	GPCR, rhodopsin-like superfamily (1);	0.436137	0.19591	N	0.110639	T	0.66528	0.2798	M	0.84326	2.69	0.09310	N	1	D	0.63046	0.992	D	0.65874	0.939	T	0.61657	-0.7018	10	0.87932	D	0	0.7668	16.5752	0.84634	0.0:0.0:1.0:0.0	.	154	Q96R08	OR5BC_HUMAN	E	154	ENSP00000306657:A154E	ENSP00000306657:A154E	A	-	2	0	OR5B12	57963740	0.000000	0.05858	0.019000	0.16419	0.789000	0.44602	0.249000	0.18216	2.471000	0.83476	0.462000	0.41574	GCA		PASS	0.453	OR5B12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394987.1	NM_001004733		39	174	39	174	---	---	---	---
MS4A14	84689	broad.mit.edu	37	11	60165446	60165446	+	Missense_Mutation	SNP	C	C	A			TCGA-22-4595-01A-01D-1267-08	TCGA-22-4595-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7fcf5123-2d1b-4666-9d39-a1aaf63cf954	850e8a4d-e0f6-4bd6-80f5-1c20e2b0e4f9	g.chr11:60165446C>A	ENST00000300187.6	+	2	537	c.260C>A	c.(259-261)gCa>gAa	p.A87E	MS4A14_ENST00000531783.1_Missense_Mutation_p.A87E|MS4A14_ENST00000531787.1_Intron|MS4A14_ENST00000395001.1_5'UTR|MS4A14_ENST00000395005.2_Missense_Mutation_p.A87E	NM_032597.4	NP_115986.3	Q96JA4	M4A14_HUMAN	membrane-spanning 4-domains, subfamily A, member 14	87						integral component of membrane (GO:0016021)		p.A87E(1)		autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(9)|lung(31)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	62						TTCTGGGGAGCACTTATTGTG	0.393																																						uc001npj.2																			1	Substitution - Missense(1)		lung(1)	breast(1)	1						c.(259-261)GCA>GAA		membrane-spanning 4-domains, subfamily A, member							112.0	114.0	113.0					11																	60165446		2203	4300	6503	SO:0001583	missense	84689					integral to membrane	receptor activity	g.chr11:60165446C>A	AY584610	CCDS31569.1, CCDS41652.1, CCDS58136.1, CCDS73295.1	11q12.2	2008-04-10	2008-04-10	2008-04-10		ENSG00000166928			30706	protein-coding gene	gene with protein product			"""membrane-spanning 4-domains, subfamily A, member 16"""	MS4A16			Standard	NM_032597		Approved	NYD-SP21, FLJ32856, DKFZp434H092	uc031qbd.1	Q96JA4		ENST00000300187.6:c.260C>A	11.37:g.60165446C>A	ENSP00000300187:p.Ala87Glu					MS4A14_uc001npi.2_Intron|MS4A14_uc001npn.2_5'UTR|MS4A14_uc001npk.2_Missense_Mutation_p.A87E|MS4A14_uc001npl.2_5'UTR|MS4A14_uc001npm.2_5'UTR	p.A87E	NM_032597	NP_115986	Q96JA4	M4A14_HUMAN			2	825	+			87			Helical; (Potential).		E9PJE3|Q2TVT5|Q3B7W3|Q86XH8|Q9NTC2	Missense_Mutation	SNP	ENST00000300187.6	37	c.260C>A	CCDS31569.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	15.03|15.03	2.713250|2.713250	0.48517|0.48517	.|.	.|.	ENSG00000166928|ENSG00000166928	ENST00000300187;ENST00000395005;ENST00000526375;ENST00000531783|ENST00000534688	T;T;T;T|.	0.34859|.	4.06;1.34;4.06;4.06|.	5.03|5.03	4.05|4.05	0.47172|0.47172	.|.	0.508880|.	0.18162|.	N|.	0.149739|.	T|T	0.76962|0.76962	0.4061|0.4061	M|M	0.87547|0.87547	2.89|2.89	0.52099|0.52099	D|D	0.99994|0.99994	D;D|.	0.76494|.	0.998;0.999|.	D;D|.	0.72982|.	0.964;0.979|.	T|T	0.78904|0.78904	-0.2020|-0.2020	10|5	0.87932|.	D|.	0|.	-10.245|-10.245	10.8753|10.8753	0.46906|0.46906	0.0:0.8098:0.1902:0.0|0.0:0.8098:0.1902:0.0	.|.	87;87|.	Q96JA4-2;Q96JA4|.	.;M4A14_HUMAN|.	E|N	87|46	ENSP00000300187:A87E;ENSP00000378453:A87E;ENSP00000435764:A87E;ENSP00000433761:A87E|.	ENSP00000300187:A87E|.	A|H	+|+	2|1	0|0	MS4A14|MS4A14	59922022|59922022	0.816000|0.816000	0.29132|0.29132	0.664000|0.664000	0.29753|0.29753	0.343000|0.343000	0.28985|0.28985	1.166000|1.166000	0.31834|0.31834	2.768000|2.768000	0.95171|0.95171	0.655000|0.655000	0.94253|0.94253	GCA|CAC		PASS	0.393	MS4A14-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000395383.2			18	66	18	66	---	---	---	---
PRPF19	27339	broad.mit.edu	37	11	60665318	60665318	+	Splice_Site	SNP	C	C	T			TCGA-22-4595-01A-01D-1267-08	TCGA-22-4595-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7fcf5123-2d1b-4666-9d39-a1aaf63cf954	850e8a4d-e0f6-4bd6-80f5-1c20e2b0e4f9	g.chr11:60665318C>T	ENST00000227524.4	-	15	1622	c.1417G>A	c.(1417-1419)Gag>Aag	p.E473K		NM_014502.4	NP_055317.1			pre-mRNA processing factor 19									p.E473K(1)		haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)|urinary_tract(1)	22						CAGCCTCTACCTGTAAAGTGA	0.532																																						uc001nqf.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1417-1419)GAG>AAG		PRP19/PSO4 pre-mRNA processing factor 19							91.0	100.0	97.0					11																	60665318		2203	4299	6502	SO:0001630	splice_region_variant	27339				DNA repair|protein polyubiquitination|spliceosome assembly	catalytic step 2 spliceosome|nuclear speck|spindle|ubiquitin ligase complex	DNA binding|identical protein binding|ubiquitin-ubiquitin ligase activity	g.chr11:60665318C>T	BC018698	CCDS7995.1	11q12.2	2014-05-20	2013-06-10	2005-04-01	ENSG00000110107	ENSG00000110107		"""WD repeat domain containing"", ""U-box domain containing"""	17896	protein-coding gene	gene with protein product	"""nuclear matrix protein NMP200 related to splicing factor PRP19"", ""psoralen 4"""	608330	"""PRP19/PSO4 homolog (S. cerevisiae)"", ""PRP19/PSO4 pre-mRNA processing factor 19 homolog (S. cerevisiae)"""	PRP19		12960389	Standard	NM_014502		Approved	UBOX4, NMP200, PSO4, hPSO4	uc001nqf.3	Q9UMS4	OTTHUMG00000167798	ENST00000227524.4:c.1417+1G>A	11.37:g.60665318C>T							p.E473K	NM_014502	NP_055317	Q9UMS4	PRP19_HUMAN			15	1624	-			473			WD 7.			Missense_Mutation	SNP	ENST00000227524.4	37	c.1417G>A	CCDS7995.1	.	.	.	.	.	.	.	.	.	.	C	26.2	4.712707	0.89112	.	.	ENSG00000110107	ENST00000227524;ENST00000535326	T;T	0.81247	-1.47;0.16	4.96	4.96	0.65561	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.118551	0.56097	D	0.000033	T	0.79040	0.4379	L	0.51853	1.615	0.53005	D	0.99996	B	0.19445	0.036	B	0.27380	0.079	T	0.75227	-0.3392	10	0.48119	T	0.1	-31.2911	18.3857	0.90465	0.0:1.0:0.0:0.0	.	473	Q9UMS4	PRP19_HUMAN	K	473;88	ENSP00000227524:E473K;ENSP00000445435:E88K	ENSP00000227524:E473K	E	-	1	0	PRPF19	60421894	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	5.555000	0.67301	2.731000	0.93534	0.650000	0.86243	GAG		PASS	0.532	PRPF19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396334.1	NM_014502	Missense_Mutation	49	202	49	202	---	---	---	---
HRASLS5	117245	broad.mit.edu	37	11	63230995	63230995	+	Missense_Mutation	SNP	G	G	T			TCGA-22-4595-01A-01D-1267-08	TCGA-22-4595-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7fcf5123-2d1b-4666-9d39-a1aaf63cf954	850e8a4d-e0f6-4bd6-80f5-1c20e2b0e4f9	g.chr11:63230995G>T	ENST00000301790.4	-	6	979	c.820C>A	c.(820-822)Ccc>Acc	p.P274T	HRASLS5_ENST00000539221.1_3'UTR|HRASLS5_ENST00000540857.1_Missense_Mutation_p.P264T			Q96KN8	HRSL5_HUMAN	HRAS-like suppressor family, member 5	274							transferase activity, transferring acyl groups (GO:0016746)	p.P274T(1)		endometrium(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|urinary_tract(1)	14						ATTGGTTTGGGCTTTATGCTA	0.473																																						uc001nwy.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(820-822)CCC>ACC		HRAS-like suppressor family, member 5 isoform 1							226.0	201.0	210.0					11																	63230995		2201	4298	6499	SO:0001583	missense	117245							g.chr11:63230995G>T	AJ416558	CCDS8044.1, CCDS53646.1, CCDS53647.1	11q13.2	2006-08-16			ENSG00000168004	ENSG00000168004			24978	protein-coding gene	gene with protein product		611474					Standard	NM_001146729		Approved	HRLP5	uc001nwy.2	Q96KN8	OTTHUMG00000167806	ENST00000301790.4:c.820C>A	11.37:g.63230995G>T	ENSP00000301790:p.Pro274Thr					HRASLS5_uc001nwz.2_Missense_Mutation_p.P264T|HRASLS5_uc010rmq.1_3'UTR|HRASLS5_uc009yos.2_RNA	p.P274T	NM_054108	NP_473449	Q96KN8	HRSL5_HUMAN			6	994	-			274					B7X6T1|F5GZ87|F5H4Y9	Missense_Mutation	SNP	ENST00000301790.4	37	c.820C>A	CCDS8044.1	.	.	.	.	.	.	.	.	.	.	G	17.41	3.382519	0.61845	.	.	ENSG00000168004	ENST00000540857;ENST00000301790	T;T	0.33216	1.42;1.42	4.13	4.13	0.48395	.	0.607605	0.16870	N	0.196179	T	0.32793	0.0841	N	0.19112	0.55	0.31565	N	0.65706	D;D	0.61080	0.989;0.982	P;P	0.56563	0.801;0.637	T	0.20538	-1.0272	10	0.54805	T	0.06	-1.4858	12.1863	0.54241	0.0:0.0:1.0:0.0	.	264;274	F5H4Y9;Q96KN8	.;HRSL5_HUMAN	T	264;274	ENSP00000444809:P264T;ENSP00000301790:P274T	ENSP00000301790:P274T	P	-	1	0	HRASLS5	62987571	0.980000	0.34600	0.877000	0.34402	0.021000	0.10359	2.247000	0.43151	2.601000	0.87937	0.462000	0.41574	CCC		PASS	0.473	HRASLS5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000396375.1	NM_054108		68	232	68	232	---	---	---	---
NUDT22	84304	broad.mit.edu	37	11	63996966	63996966	+	Missense_Mutation	SNP	G	G	C			TCGA-22-4595-01A-01D-1267-08	TCGA-22-4595-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7fcf5123-2d1b-4666-9d39-a1aaf63cf954	850e8a4d-e0f6-4bd6-80f5-1c20e2b0e4f9	g.chr11:63996966G>C	ENST00000279206.3	+	5	850	c.694G>C	c.(694-696)Gag>Cag	p.E232Q	DNAJC4_ENST00000321685.3_5'Flank|RP11-783K16.14_ENST00000539963.1_RNA|DNAJC4_ENST00000321460.5_5'Flank|NUDT22_ENST00000441250.2_Missense_Mutation_p.E199Q|RP11-783K16.14_ENST00000534988.1_RNA|DNAJC4_ENST00000355040.4_5'Flank	NM_001128612.2|NM_032344.2	NP_001122084.1|NP_115720	Q9BRQ3	NUD22_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 22	232	Nudix hydrolase. {ECO:0000255|PROSITE- ProRule:PRU00794}.						hydrolase activity (GO:0016787)	p.E232Q(1)		breast(1)|endometrium(1)|large_intestine(2)|lung(4)	8						CCTGACTTCTGAGCAGGTGAG	0.587																																						uc001nyp.3																			1	Substitution - Missense(1)		lung(1)		0						c.(694-696)GAG>CAG		nudix (nucleoside diphosphate linked moiety							119.0	116.0	117.0					11																	63996966		2201	4297	6498	SO:0001583	missense	84304						hydrolase activity	g.chr11:63996966G>C	BC006129	CCDS8061.1, CCDS44640.1	11q13.1	2008-02-05			ENSG00000149761	ENSG00000149761		"""Nudix motif containing"""	28189	protein-coding gene	gene with protein product						12477932	Standard	NM_032344		Approved	MGC13045	uc009ype.4	Q9BRQ3	OTTHUMG00000167791	ENST00000279206.3:c.694G>C	11.37:g.63996966G>C	ENSP00000279206:p.Glu232Gln					NUDT22_uc009ype.2_Missense_Mutation_p.E232Q|NUDT22_uc001nyq.3_Missense_Mutation_p.E199Q|NUDT22_uc010rng.1_RNA|uc001nyr.1_3'UTR|DNAJC4_uc001nys.2_5'Flank|DNAJC4_uc001nyt.2_5'Flank|DNAJC4_uc001nyu.2_5'Flank	p.E232Q	NM_032344	NP_115720	Q9BRQ3	NUD22_HUMAN			5	874	+			232			Nudix hydrolase.		C9JY06|Q71RD5	Missense_Mutation	SNP	ENST00000279206.3	37	c.694G>C	CCDS8061.1	.	.	.	.	.	.	.	.	.	.	G	15.17	2.753403	0.49362	.	.	ENSG00000149761	ENST00000279206;ENST00000441250;ENST00000428347	T;T;T	0.35421	2.07;2.01;1.31	4.57	4.57	0.56435	NUDIX hydrolase domain (1);	0.109422	0.64402	D	0.000012	T	0.59676	0.2211	M	0.72118	2.19	0.50171	D	0.999859	D;D	0.89917	0.998;1.0	D;D	0.77004	0.943;0.989	T	0.63686	-0.6581	10	0.66056	D	0.02	-1.5826	16.6426	0.85130	0.0:0.0:1.0:0.0	.	199;232	C9JY06;Q9BRQ3	.;NUD22_HUMAN	Q	232;199;263	ENSP00000279206:E232Q;ENSP00000407970:E199Q;ENSP00000401085:E263Q	ENSP00000279206:E232Q	E	+	1	0	NUDT22	63753542	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	6.131000	0.71670	2.532000	0.85374	0.462000	0.41574	GAG		PASS	0.587	NUDT22-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396304.2	NM_032344		73	239	73	239	---	---	---	---
VPS51	738	broad.mit.edu	37	11	64875684	64875684	+	Silent	SNP	C	C	T			TCGA-22-4595-01A-01D-1267-08	TCGA-22-4595-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7fcf5123-2d1b-4666-9d39-a1aaf63cf954	850e8a4d-e0f6-4bd6-80f5-1c20e2b0e4f9	g.chr11:64875684C>T	ENST00000279281.3	+	5	833	c.741C>T	c.(739-741)ggC>ggT	p.G247G	VPS51_ENST00000527646.1_3'UTR|AP003068.9_ENST00000528887.1_RNA	NM_013265.2	NP_037397.2	Q9UID3	VPS51_HUMAN	vacuolar protein sorting 51 homolog (S. cerevisiae)	247					autophagy (GO:0006914)|lipid transport (GO:0006869)|protein transport (GO:0015031)|retrograde transport, endosome to Golgi (GO:0042147)	GARP complex (GO:0000938)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)		p.G247G(1)									GCGGCTCAGGCGCCCCGGAGC	0.721																																						uc001ocr.1																			1	Substitution - coding silent(1)		lung(1)		0						c.(739-741)GGC>GGT		chromosome 11 open reading frame 2							6.0	7.0	6.0					11																	64875684		2094	4069	6163	SO:0001819	synonymous_variant	738				lipid transport|protein transport	Golgi apparatus|integral to membrane		g.chr11:64875684C>T	AF024631	CCDS8093.1	11q13.1	2012-07-19	2012-07-19	2012-07-19	ENSG00000149823	ENSG00000149823			1172	protein-coding gene	gene with protein product	"""fat-free homolog (zebrafish)"""	615738	"""chromosome 11 open reading frame 3"", ""chromosome 11 open reading frame 2"""	C11orf3, C11orf2		9286704, 20685960	Standard	NM_013265		Approved	ANG2, ANG3, FFR	uc001ocr.2	Q9UID3	OTTHUMG00000165600	ENST00000279281.3:c.741C>T	11.37:g.64875684C>T						C11orf2_uc001ocs.1_Silent_p.G123G	p.G247G	NM_013265	NP_037397	Q9UID3	FFR_HUMAN			5	781	+			247					Q6PJV5|Q7L8A6|Q8WZ35|Q96DF4|Q96GR3	Silent	SNP	ENST00000279281.3	37	c.741C>T	CCDS8093.1																																																																																				PASS	0.721	VPS51-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385217.1	NM_013265		6	8	6	8	---	---	---	---
CD248	57124	broad.mit.edu	37	11	66082942	66082942	+	Silent	SNP	G	G	A			TCGA-22-4595-01A-01D-1267-08	TCGA-22-4595-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7fcf5123-2d1b-4666-9d39-a1aaf63cf954	850e8a4d-e0f6-4bd6-80f5-1c20e2b0e4f9	g.chr11:66082942G>A	ENST00000311330.3	-	1	1573	c.1557C>T	c.(1555-1557)acC>acT	p.T519T	RP11-867G23.13_ENST00000534065.1_RNA	NM_020404.2	NP_065137.1	Q9HCU0	CD248_HUMAN	CD248 molecule, endosialin	519	Pro-rich.				anatomical structure regression (GO:0060033)|cell migration (GO:0016477)|lymph node development (GO:0048535)|positive regulation of cell proliferation (GO:0008284)|positive regulation of endothelial cell apoptotic process (GO:2000353)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|extracellular matrix binding (GO:0050840)	p.T519T(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|ovary(1)|prostate(1)|urinary_tract(2)	26						CCGGATATTTGGTTGAGATCA	0.572																																						uc001ohm.1																			1	Substitution - coding silent(1)		lung(1)	large_intestine(3)	3						c.(1555-1557)ACC>ACT		tumor endothelial marker 1 precursor	Cefalotin(DB00456)						69.0	74.0	72.0					11																	66082942		2200	4295	6495	SO:0001819	synonymous_variant	57124					integral to membrane|proteinaceous extracellular matrix	calcium ion binding|sugar binding	g.chr11:66082942G>A	AF279142	CCDS8134.1	11q13	2006-04-12	2006-03-28	2005-02-11	ENSG00000174807	ENSG00000174807		"""CD molecules"""	18219	protein-coding gene	gene with protein product	"""endosialin"", ""tumor endothelial marker 1"""	606064	"""CD164 sialomucin-like 1"", ""CD248 antigen, endosialin"""	CD164L1		10947988, 11084048	Standard	NM_020404		Approved	TEM1	uc001ohm.1	Q9HCU0	OTTHUMG00000167073	ENST00000311330.3:c.1557C>T	11.37:g.66082942G>A							p.T519T	NM_020404	NP_065137	Q9HCU0	CD248_HUMAN			1	1574	-			519			Pro-rich.|Extracellular (Potential).		Q2M2V5|Q3SX55|Q96KB6	Silent	SNP	ENST00000311330.3	37	c.1557C>T	CCDS8134.1																																																																																				PASS	0.572	CD248-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392922.2	NM_020404		76	194	76	194	---	---	---	---
DHCR7	1717	broad.mit.edu	37	11	71146456	71146456	+	Missense_Mutation	SNP	C	C	A			TCGA-22-4595-01A-01D-1267-08	TCGA-22-4595-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7fcf5123-2d1b-4666-9d39-a1aaf63cf954	850e8a4d-e0f6-4bd6-80f5-1c20e2b0e4f9	g.chr11:71146456C>A	ENST00000355527.3	-	9	1669	c.1393G>T	c.(1393-1395)Gca>Tca	p.A465S	DHCR7_ENST00000407721.2_Missense_Mutation_p.A465S	NM_001163817.1|NM_001360.2	NP_001157289.1|NP_001351.2	Q9UBM7	DHCR7_HUMAN	7-dehydrocholesterol reductase	465					blood vessel development (GO:0001568)|cell differentiation (GO:0030154)|cholesterol biosynthetic process (GO:0006695)|lung development (GO:0030324)|multicellular organism growth (GO:0035264)|post-embryonic development (GO:0009791)|regulation of cell proliferation (GO:0042127)|regulation of cholesterol biosynthetic process (GO:0045540)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nuclear outer membrane (GO:0005640)	7-dehydrocholesterol reductase activity (GO:0047598)	p.A465S(2)		endometrium(2)|kidney(1)|large_intestine(3)|liver(1)|lung(10)|ovary(1)|skin(1)	19						TAAGGCACTGCGGCGGTGTAG	0.652									Smith-Lemli-Opitz syndrome																													uc001oqk.2																			2	Substitution - Missense(2)		lung(2)	ovary(1)|liver(1)	2						c.(1393-1395)GCA>TCA		7-dehydrocholesterol reductase	NADH(DB00157)						47.0	50.0	49.0					11																	71146456		2194	4288	6482	SO:0001583	missense	1717	Smith-Lemli-Opitz_syndrome	Familial Cancer Database	SLOS type I & II	cholesterol biosynthetic process	endoplasmic reticulum membrane|integral to membrane|nuclear outer membrane	7-dehydrocholesterol reductase activity|protein binding	g.chr11:71146456C>A	AF034544	CCDS8200.1	11q13.4	2014-09-17	2004-02-13				1.3.1.21		2860	protein-coding gene	gene with protein product		602858	"""Smith-Lemli-Opitz syndrome"""	SLOS		9465114, 9634533	Standard	NM_001360		Approved		uc001oql.3	Q9UBM7		ENST00000355527.3:c.1393G>T	11.37:g.71146456C>A	ENSP00000347717:p.Ala465Ser					DHCR7_uc001oql.2_Missense_Mutation_p.A465S	p.A465S	NM_001163817	NP_001157289	Q9UBM7	DHCR7_HUMAN			9	1643	-			465					B2R6Z2|O60492|O60717	Missense_Mutation	SNP	ENST00000355527.3	37	c.1393G>T	CCDS8200.1	.	.	.	.	.	.	.	.	.	.	C	12.13	1.845664	0.32606	.	.	ENSG00000172893	ENST00000407721;ENST00000355527	D;D	0.97924	-4.61;-4.61	5.12	4.19	0.49359	.	0.104338	0.64402	D	0.000003	D	0.95105	0.8414	L	0.56769	1.78	0.52099	D	0.999941	P	0.34757	0.467	B	0.32928	0.155	D	0.93233	0.6619	10	0.15066	T	0.55	-24.3113	11.8652	0.52488	0.0:0.9108:0.0:0.0892	.	465	Q9UBM7	DHCR7_HUMAN	S	465	ENSP00000384739:A465S;ENSP00000347717:A465S	ENSP00000347717:A465S	A	-	1	0	DHCR7	70824104	0.281000	0.24258	0.956000	0.39512	0.376000	0.30014	1.126000	0.31344	2.386000	0.81285	0.561000	0.74099	GCA		PASS	0.652	DHCR7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394243.1	NM_001360		45	126	45	126	---	---	---	---
MAP6	4135	broad.mit.edu	37	11	75298589	75298589	+	Missense_Mutation	SNP	T	T	A			TCGA-22-4595-01A-01D-1267-08	TCGA-22-4595-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7fcf5123-2d1b-4666-9d39-a1aaf63cf954	850e8a4d-e0f6-4bd6-80f5-1c20e2b0e4f9	g.chr11:75298589T>A	ENST00000304771.3	-	4	2707	c.1957A>T	c.(1957-1959)Atg>Ttg	p.M653L	CTD-2530H12.4_ENST00000527803.1_RNA|MAP6_ENST00000526740.1_Missense_Mutation_p.M324L|MAP6_ENST00000526689.1_5'Flank	NM_033063.1	NP_149052.1	Q96JE9	MAP6_HUMAN	microtubule-associated protein 6	653	Pro-rich.				dendrite morphogenesis (GO:0048813)|lysosome localization (GO:0032418)|microtubule cytoskeleton organization (GO:0000226)|transport (GO:0006810)	Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|perinuclear region of cytoplasm (GO:0048471)		p.M653L(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|prostate(1)|skin(1)|urinary_tract(1)	19	Ovarian(111;0.11)					GCTGTGGCCATGGCACTTTCA	0.498																																					Esophageal Squamous(181;1115 2007 8647 17065 22697)	uc001owu.2																			1	Substitution - Missense(1)		lung(1)		0						c.(1957-1959)ATG>TTG		microtubule-associated protein 6 isoform 1							173.0	156.0	162.0					11																	75298589		2200	4293	6493	SO:0001583	missense	4135					Golgi apparatus|microtubule|perinuclear region of cytoplasm	calmodulin binding	g.chr11:75298589T>A	AK123340	CCDS31641.1, CCDS44686.1	11q13.5	2005-10-11			ENSG00000171533	ENSG00000171533			6868	protein-coding gene	gene with protein product		601783				10516426, 12231625	Standard	NM_207577		Approved	KIAA1878, STOP, FLJ41346	uc001owu.3	Q96JE9	OTTHUMG00000165343	ENST00000304771.3:c.1957A>T	11.37:g.75298589T>A	ENSP00000307093:p.Met653Leu						p.M653L	NM_033063	NP_149052	Q96JE9	MAP6_HUMAN			4	2022	-	Ovarian(111;0.11)		653			Pro-rich.		A7E2A1|Q6P3T0|Q6ZWB8	Missense_Mutation	SNP	ENST00000304771.3	37	c.1957A>T	CCDS31641.1	.	.	.	.	.	.	.	.	.	.	T	10.38	1.335533	0.24253	.	.	ENSG00000171533	ENST00000304771;ENST00000526740;ENST00000545476	T	0.39406	1.08	4.88	-7.78	0.01223	.	0.886336	0.09684	N	0.769307	T	0.22859	0.0552	L	0.42245	1.32	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.21586	-1.0241	10	0.20519	T	0.43	-0.021	2.4408	0.04494	0.2224:0.403:0.1082:0.2664	.	653	Q96JE9	MAP6_HUMAN	L	653;324;324	ENSP00000307093:M653L	ENSP00000307093:M653L	M	-	1	0	MAP6	74976237	0.000000	0.05858	0.000000	0.03702	0.046000	0.14306	-1.520000	0.02241	-1.560000	0.01686	0.460000	0.39030	ATG		PASS	0.498	MAP6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000383527.1	NM_033063		5	426	5	426	---	---	---	---
FAT3	120114	broad.mit.edu	37	11	92590384	92590384	+	Silent	SNP	A	A	T			TCGA-22-4595-01A-01D-1267-08	TCGA-22-4595-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7fcf5123-2d1b-4666-9d39-a1aaf63cf954	850e8a4d-e0f6-4bd6-80f5-1c20e2b0e4f9	g.chr11:92590384A>T	ENST00000298047.6	+	19	11387	c.11370A>T	c.(11368-11370)ggA>ggT	p.G3790G	FAT3_ENST00000525166.1_Silent_p.G3640G|FAT3_ENST00000533797.1_Silent_p.G125G|FAT3_ENST00000409404.2_Silent_p.G3790G			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	3790					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.G3790G(2)|p.G365G(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)				TCACAGGAGGACTGTGTCCGG	0.517										TCGA Ovarian(4;0.039)																												uc001pdj.3																			3	Substitution - coding silent(3)		lung(3)	ovary(4)|pancreas(1)	5						c.(11368-11370)GGA>GGT		FAT tumor suppressor homolog 3							101.0	104.0	103.0					11																	92590384		2001	4175	6176	SO:0001819	synonymous_variant	120114				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding	g.chr11:92590384A>T	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.11370A>T	11.37:g.92590384A>T		TCGA Ovarian(4;0.039)				FAT3_uc001pdi.3_Silent_p.G230G	p.G3790G	NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN			19	11387	+		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)	3790			Extracellular (Potential).		B5MDB0|Q96AU6	Silent	SNP	ENST00000298047.6	37	c.11370A>T																																																																																					PASS	0.517	FAT3-201	KNOWN	basic	protein_coding	protein_coding		NM_001008781		40	139	40	139	---	---	---	---
FAT3	120114	broad.mit.edu	37	11	92600220	92600221	+	Missense_Mutation	DNP	TG	TG	CT			TCGA-22-4595-01A-01D-1267-08	TCGA-22-4595-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7fcf5123-2d1b-4666-9d39-a1aaf63cf954	850e8a4d-e0f6-4bd6-80f5-1c20e2b0e4f9	g.chr11:92600220_92600221TG>CT	ENST00000298047.6	+	21	11989_11990	c.11972_11973TG>CT	c.(11971-11973)cTG>cCT	p.L3991P	FAT3_ENST00000525166.1_Missense_Mutation_p.L3841P|FAT3_ENST00000533797.1_Missense_Mutation_p.L326P|FAT3_ENST00000409404.2_Missense_Mutation_p.L3991P			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	3991	Laminin G-like. {ECO:0000255|PROSITE- ProRule:PRU00122}.				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.L3991P(4)|p.L3991L(2)|p.L566P(2)|p.L566L(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)				TCGGTGATACTGAATAACAATG	0.634										TCGA Ovarian(4;0.039)																												uc001pdj.3																			9	Substitution - Missense(6)|Substitution - coding silent(3)		lung(9)	ovary(4)|pancreas(1)	5						c.(11971-11973)CTG>CCG|c.(11971-11973)CTG>CTT		FAT tumor suppressor homolog 3																																				SO:0001583	missense	120114				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding	g.chr11:92600220T>C|g.chr11:92600221G>T	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	Exception_encountered	11.37:g.92600220_92600221delinsCT	ENSP00000298047:p.Leu3991Pro	TCGA Ovarian(4;0.039)				FAT3_uc001pdi.3_Missense_Mutation_p.L431P|FAT3_uc001pdi.3_Silent_p.L431L	p.L3991P|p.L3991L	NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN			21	11989|11990	+		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)	3991			Laminin G-like.|Extracellular (Potential).		B5MDB0|Q96AU6	Missense_Mutation|Silent	SNP	ENST00000298047.6	37	c.11972T>C|c.11973G>T																																																																																					PASS	0.634	FAT3-201	KNOWN	basic	protein_coding	protein_coding		NM_001008781		4	6	4	6	---	---	---	---
TRPC6	7225	broad.mit.edu	37	11	101362427	101362427	+	Missense_Mutation	SNP	C	C	A			TCGA-22-4595-01A-01D-1267-08	TCGA-22-4595-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7fcf5123-2d1b-4666-9d39-a1aaf63cf954	850e8a4d-e0f6-4bd6-80f5-1c20e2b0e4f9	g.chr11:101362427C>A	ENST00000344327.3	-	3	1412	c.988G>T	c.(988-990)Gtt>Ttt	p.V330F	TRPC6_ENST00000532133.1_Missense_Mutation_p.V330F|TRPC6_ENST00000360497.4_Missense_Mutation_p.V330F|TRPC6_ENST00000348423.4_Intron	NM_004621.5	NP_004612.2	Q9Y210	TRPC6_HUMAN	transient receptor potential cation channel, subfamily C, member 6	330					aging (GO:0007568)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|cation transport (GO:0006812)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to hypoxia (GO:0071456)|ion transmembrane transport (GO:0034220)|platelet activation (GO:0030168)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of ion transmembrane transporter activity (GO:0032414)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|slit diaphragm (GO:0036057)	inositol 1,4,5 trisphosphate binding (GO:0070679)|store-operated calcium channel activity (GO:0015279)	p.V330F(1)		autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(14)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	55		Acute lymphoblastic leukemia(157;0.000918)|all_hematologic(158;0.0162)		BRCA - Breast invasive adenocarcinoma(274;0.0442)		AGGAGTCCAACAACAAAGTCT	0.418																																					Colon(166;1315 1927 11094 12848 34731)	uc001pgk.3																			1	Substitution - Missense(1)		lung(1)	skin(2)|ovary(1)|central_nervous_system(1)	4						c.(988-990)GTT>TTT		transient receptor potential cation channel,							102.0	97.0	98.0					11																	101362427		2203	4299	6502	SO:0001583	missense	7225				axon guidance|platelet activation|positive regulation of calcium ion transport via store-operated calcium channel activity	integral to membrane|plasma membrane	protein binding	g.chr11:101362427C>A	AJ006276	CCDS8311.1	11q22.1	2014-02-04				ENSG00000137672		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	12338	protein-coding gene	gene with protein product		603652	"""focal segmental glomerulosclerosis 2"""	FSGS2		9925922, 16382100, 15879175	Standard	NM_004621		Approved	TRP6	uc001pgk.4	Q9Y210		ENST00000344327.3:c.988G>T	11.37:g.101362427C>A	ENSP00000340913:p.Val330Phe					TRPC6_uc009ywy.2_Intron|TRPC6_uc009ywz.1_Missense_Mutation_p.V330F	p.V330F	NM_004621	NP_004612	Q9Y210	TRPC6_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.0442)	3	1413	-		Acute lymphoblastic leukemia(157;0.000918)|all_hematologic(158;0.0162)	330			Cytoplasmic (Potential).		Q52M59|Q9HCW3|Q9NQA8|Q9NQA9	Missense_Mutation	SNP	ENST00000344327.3	37	c.988G>T	CCDS8311.1	.	.	.	.	.	.	.	.	.	.	C	32	5.112157	0.94339	.	.	ENSG00000137672	ENST00000344327;ENST00000532133;ENST00000360497	T;T;T	0.67345	-0.26;-0.26;-0.26	6.14	6.14	0.99180	.	0.000000	0.85682	D	0.000000	D	0.82903	0.5138	M	0.74389	2.26	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	T	0.80489	-0.1360	10	0.45353	T	0.12	-8.0166	20.8597	0.99761	0.0:1.0:0.0:0.0	.	330;330	Q9Y210-3;Q9Y210	.;TRPC6_HUMAN	F	330	ENSP00000340913:V330F;ENSP00000435574:V330F;ENSP00000353687:V330F	ENSP00000340913:V330F	V	-	1	0	TRPC6	100867637	1.000000	0.71417	1.000000	0.80357	0.943000	0.58893	7.731000	0.84895	2.937000	0.99478	0.650000	0.86243	GTT		PASS	0.418	TRPC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394770.1	NM_004621		69	221	69	221	---	---	---	---
MMP7	4316	broad.mit.edu	37	11	102398592	102398592	+	Silent	SNP	G	G	T	rs17879417	byFrequency	TCGA-22-4595-01A-01D-1267-08	TCGA-22-4595-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7fcf5123-2d1b-4666-9d39-a1aaf63cf954	850e8a4d-e0f6-4bd6-80f5-1c20e2b0e4f9	g.chr11:102398592G>T	ENST00000260227.4	-	2	283	c.231C>A	c.(229-231)cgC>cgA	p.R77R		NM_002423.3	NP_002414.1	P09237	MMP7_HUMAN	matrix metallopeptidase 7 (matrilysin, uterine)	77			R -> H (in dbSNP:rs10502001). {ECO:0000269|Ref.4}.		antibacterial peptide secretion (GO:0002779)|collagen catabolic process (GO:0030574)|defense response to Gram-negative bacterium (GO:0050829)|defense response to Gram-positive bacterium (GO:0050830)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|proteolysis (GO:0006508)|regulation of cell proliferation (GO:0042127)|response to drug (GO:0042493)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.R77R(1)		large_intestine(6)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	12	all_cancers(8;2.04e-05)|all_epithelial(12;0.00053)|Lung NSC(15;0.139)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0033)	Epithelial(9;0.0105)|all cancers(10;0.0496)|Lung(13;0.109)|LUSC - Lung squamous cell carcinoma(19;0.151)	BRCA - Breast invasive adenocarcinoma(274;0.0147)	Marimastat(DB00786)	TTTCTATGACGCGGGAGTTTA	0.408																																						uc001phb.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(229-231)CGC>CGA		matrix metalloproteinase 7 preproprotein							93.0	102.0	99.0					11																	102398592		2203	4299	6502	SO:0001819	synonymous_variant	4316				collagen catabolic process|proteolysis	extracellular space|proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr11:102398592G>T	Z11887	CCDS8317.1	11q21-q22	2008-02-05	2005-08-08		ENSG00000137673	ENSG00000137673	3.4.24.23		7174	protein-coding gene	gene with protein product		178990	"""matrix metalloproteinase 7 (matrilysin, uterine)"""	MPSL1		8978768	Standard	NM_002423		Approved	PUMP-1	uc001phb.3	P09237	OTTHUMG00000048193	ENST00000260227.4:c.231C>A	11.37:g.102398592G>T						MMP7_uc009yxd.2_Silent_p.R77R|MMP7_uc010rus.1_Silent_p.R77R	p.R77R	NM_002423	NP_002414	P09237	MMP7_HUMAN	Epithelial(9;0.0105)|all cancers(10;0.0496)|Lung(13;0.109)|LUSC - Lung squamous cell carcinoma(19;0.151)	BRCA - Breast invasive adenocarcinoma(274;0.0147)	2	278	-	all_cancers(8;2.04e-05)|all_epithelial(12;0.00053)|Lung NSC(15;0.139)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0033)	77					Q9BTK9	Silent	SNP	ENST00000260227.4	37	c.231C>A	CCDS8317.1																																																																																				PASS	0.408	MMP7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109633.2			57	182	57	182	---	---	---	---
CASP4	837	broad.mit.edu	37	11	104819395	104819395	+	Missense_Mutation	SNP	C	C	A	rs376996510		TCGA-22-4595-01A-01D-1267-08	TCGA-22-4595-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7fcf5123-2d1b-4666-9d39-a1aaf63cf954	850e8a4d-e0f6-4bd6-80f5-1c20e2b0e4f9	g.chr11:104819395C>A	ENST00000444739.2	-	6	1700	c.790G>T	c.(790-792)Ggg>Tgg	p.G264W	CASP4_ENST00000531333.1_5'Flank|CASP4_ENST00000393150.3_Missense_Mutation_p.G208W	NM_001225.3	NP_001216.1	P49662	CASP4_HUMAN	caspase 4, apoptosis-related cysteine peptidase	264					apoptotic process (GO:0006915)|execution phase of apoptosis (GO:0097194)|proteolysis (GO:0006508)|regulation of apoptotic process (GO:0042981)|regulation of inflammatory response (GO:0050727)	AIM2 inflammasome complex (GO:0097169)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|IPAF inflammasome complex (GO:0072557)|membrane (GO:0016020)|mitochondrion (GO:0005739)|NLRP3 inflammasome complex (GO:0072559)	cysteine-type endopeptidase activity (GO:0004197)	p.G264W(1)		central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(11)|ovary(1)|skin(1)|urinary_tract(2)	23		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Melanoma(852;0.0047)		BRCA - Breast invasive adenocarcinoma(274;0.000854)|Epithelial(105;0.00879)|all cancers(92;0.0357)		CACAGTTCCCCACGGTTTGCT	0.488																																						uc001pid.1																			1	Substitution - Missense(1)		lung(1)	lung(2)|ovary(1)|skin(1)	4						c.(790-792)GGG>TGG		caspase 4 isoform alpha precursor		C	TRP/GLY,TRP/GLY	1,4403	2.1+/-5.4	0,1,2201	135.0	110.0	118.0		790,622	4.6	0.0	11		118	1,8597	1.2+/-3.3	0,1,4298	no	missense,missense	CASP4	NM_001225.3,NM_033306.2	184,184	0,2,6499	AA,AC,CC		0.0116,0.0227,0.0154	probably-damaging,probably-damaging	264/378,208/322	104819395	2,13000	2202	4299	6501	SO:0001583	missense	837				apoptosis|induction of apoptosis|proteolysis	intracellular	cysteine-type endopeptidase activity|protein binding	g.chr11:104819395C>A	U25804	CCDS8327.1, CCDS41704.1	11q22.2-q22.3	2006-02-17	2005-08-17		ENSG00000196954	ENSG00000196954		"""Caspases"""	1505	protein-coding gene	gene with protein product		602664	"""caspase 4, apoptosis-related cysteine protease"""			7797510, 9250871	Standard	NM_001225		Approved	ICE(rel)II, ICH-2, TX	uc001pid.1	P49662	OTTHUMG00000166078	ENST00000444739.2:c.790G>T	11.37:g.104819395C>A	ENSP00000388566:p.Gly264Trp					CASP4_uc001pib.1_Missense_Mutation_p.G208W|CASP4_uc009yxg.1_Missense_Mutation_p.G173W	p.G264W	NM_001225	NP_001216	P49662	CASP4_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.000854)|Epithelial(105;0.00879)|all cancers(92;0.0357)	6	863	-		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Melanoma(852;0.0047)	264					A2NHL8|A2NHM0	Missense_Mutation	SNP	ENST00000444739.2	37	c.790G>T	CCDS8327.1	.	.	.	.	.	.	.	.	.	.	C	15.12	2.740073	0.49045	2.27E-4	1.16E-4	ENSG00000196954	ENST00000444739;ENST00000393150;ENST00000355546	T;T	0.47528	0.84;0.84	4.56	4.56	0.56223	Peptidase C14, caspase catalytic (1);Peptidase C14, caspase precursor p45, core (1);	0.000000	0.85682	D	0.000000	T	0.76962	0.4061	H	0.96080	3.765	0.23510	N	0.997529	D	0.89917	1.0	D	0.97110	1.0	T	0.73033	-0.4110	10	0.87932	D	0	.	12.6706	0.56864	0.0:1.0:0.0:0.0	.	264	P49662	CASP4_HUMAN	W	264;208;217	ENSP00000388566:G264W;ENSP00000376857:G208W	ENSP00000347741:G217W	G	-	1	0	CASP4	104324605	0.362000	0.24980	0.038000	0.18304	0.005000	0.04900	3.664000	0.54525	2.351000	0.79841	0.484000	0.47621	GGG		PASS	0.488	CASP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387751.1	NM_001225		13	98	13	98	---	---	---	---
NPAT	4863	broad.mit.edu	37	11	108032402	108032402	+	Silent	SNP	C	C	T			TCGA-22-4595-01A-01D-1267-08	TCGA-22-4595-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7fcf5123-2d1b-4666-9d39-a1aaf63cf954	850e8a4d-e0f6-4bd6-80f5-1c20e2b0e4f9	g.chr11:108032402C>T	ENST00000278612.8	-	17	3516	c.3411G>A	c.(3409-3411)cgG>cgA	p.R1137R		NM_002519.2	NP_002510.2	Q14207	NPAT_HUMAN	nuclear protein, ataxia-telangiectasia locus	1137					positive regulation of transcription, DNA-templated (GO:0045893)|regulation of gene expression (GO:0010468)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|transcription, DNA-templated (GO:0006351)	Cajal body (GO:0015030)|cytoplasm (GO:0005737)|Gemini of coiled bodies (GO:0097504)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	protein C-terminus binding (GO:0008022)|protein N-terminus binding (GO:0047485)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)	p.R1137R(1)		breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(21)|ovary(2)|prostate(2)|skin(5)	46		all_cancers(61;2.31e-10)|all_epithelial(67;1.11e-06)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		BRCA - Breast invasive adenocarcinoma(274;1.05e-05)|Epithelial(105;3.01e-05)|all cancers(92;0.000816)|Colorectal(284;0.116)		TGGTGGTATGCCGGCTAATGG	0.383																																						uc001pjz.3																			1	Substitution - coding silent(1)		lung(1)	ovary(2)	2						c.(3409-3411)CGG>CGA		nuclear protein,  ataxia-telangiectasia locus							83.0	77.0	79.0					11																	108032402		1823	4075	5898	SO:0001819	synonymous_variant	4863				positive regulation of transcription, DNA-dependent|regulation of transcription involved in G1/S phase of mitotic cell cycle	Cajal body	protein C-terminus binding|protein N-terminus binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity	g.chr11:108032402C>T	X97186	CCDS41710.1	11q22-q23	2008-02-01			ENSG00000149308	ENSG00000149308			7896	protein-coding gene	gene with protein product		601448				9205109	Standard	NM_002519		Approved	E14	uc001pjz.4	Q14207	OTTHUMG00000166385	ENST00000278612.8:c.3411G>A	11.37:g.108032402C>T						NPAT_uc010rvv.1_Silent_p.R193R	p.R1137R	NM_002519	NP_002510	Q14207	NPAT_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.05e-05)|Epithelial(105;3.01e-05)|all cancers(92;0.000816)|Colorectal(284;0.116)	17	3513	-		all_cancers(61;2.31e-10)|all_epithelial(67;1.11e-06)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)	1137					A8K1V5|A8K6M2|Q13632|Q14967|Q16580|Q86W55|Q8IWE9	Silent	SNP	ENST00000278612.8	37	c.3411G>A	CCDS41710.1	.	.	.	.	.	.	.	.	.	.	C	0.012	-1.684198	0.00745	.	.	ENSG00000149308	ENST00000527296	.	.	.	5.55	-1.78	0.07957	.	.	.	.	.	T	0.36853	0.0982	.	.	.	0.22571	N	0.998978	.	.	.	.	.	.	T	0.39418	-0.9615	4	.	.	.	-6.4166	13.0217	0.58791	0.0:0.2324:0.0:0.7676	.	.	.	.	D	136	.	.	G	-	2	0	NPAT	107537612	0.916000	0.31088	0.427000	0.26684	0.019000	0.09904	0.065000	0.14466	-0.204000	0.10235	-0.345000	0.07892	GGC		PASS	0.383	NPAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389506.2	NM_002519		4	230	4	230	---	---	---	---
EXPH5	23086	broad.mit.edu	37	11	108382569	108382569	+	Missense_Mutation	SNP	C	C	A			TCGA-22-4595-01A-01D-1267-08	TCGA-22-4595-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7fcf5123-2d1b-4666-9d39-a1aaf63cf954	850e8a4d-e0f6-4bd6-80f5-1c20e2b0e4f9	g.chr11:108382569C>A	ENST00000265843.4	-	6	3775	c.3665G>T	c.(3664-3666)cGt>cTt	p.R1222L	EXPH5_ENST00000428840.1_Missense_Mutation_p.R1146L|EXPH5_ENST00000525344.1_Missense_Mutation_p.R1215L|EXPH5_ENST00000524840.1_5'Flank|EXPH5_ENST00000443411.1_Missense_Mutation_p.R1034L	NM_015065.2	NP_055880	Q8NEV8	EXPH5_HUMAN	exophilin 5	1222					intracellular protein transport (GO:0006886)|keratinocyte development (GO:0003334)|multivesicular body sorting pathway (GO:0071985)|positive regulation of exocytosis (GO:0045921)|positive regulation of protein secretion (GO:0050714)	endosome (GO:0005768)	Rab GTPase binding (GO:0017137)	p.R1222L(1)		breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(13)|liver(1)|lung(34)|ovary(3)|pancreas(2)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(1)	91		all_cancers(61;3.99e-08)|Acute lymphoblastic leukemia(157;3.97e-05)|Melanoma(852;4.04e-05)|all_epithelial(67;0.000116)|all_hematologic(158;0.000315)|Breast(348;0.104)|all_neural(303;0.16)		Epithelial(105;8.1e-06)|BRCA - Breast invasive adenocarcinoma(274;1.22e-05)|all cancers(92;0.000129)|OV - Ovarian serous cystadenocarcinoma(223;0.11)|Colorectal(284;0.184)		TGTTTTCCCACGTTCTTTTCC	0.383																																						uc001pkk.2																			1	Substitution - Missense(1)		lung(1)	skin(3)|ovary(2)	5						c.(3664-3666)CGT>CTT		exophilin 5 isoform a							102.0	104.0	103.0					11																	108382569		2200	4298	6498	SO:0001583	missense	23086				intracellular protein transport		Rab GTPase binding	g.chr11:108382569C>A		CCDS8341.1	11q22.3	2008-02-05			ENSG00000110723	ENSG00000110723			30578	protein-coding gene	gene with protein product	"""synaptotagmin-like homologue lacking C2 domains b"""	612878				9734811, 11773082	Standard	NM_015065		Approved	SLAC2-B	uc001pkk.3	Q8NEV8	OTTHUMG00000166536	ENST00000265843.4:c.3665G>T	11.37:g.108382569C>A	ENSP00000265843:p.Arg1222Leu					EXPH5_uc010rvy.1_Missense_Mutation_p.R1034L|EXPH5_uc010rvz.1_Missense_Mutation_p.R1066L|EXPH5_uc010rwa.1_Missense_Mutation_p.R1146L	p.R1222L	NM_015065	NP_055880	Q8NEV8	EXPH5_HUMAN		Epithelial(105;8.1e-06)|BRCA - Breast invasive adenocarcinoma(274;1.22e-05)|all cancers(92;0.000129)|OV - Ovarian serous cystadenocarcinoma(223;0.11)|Colorectal(284;0.184)	6	3776	-		all_cancers(61;3.99e-08)|Acute lymphoblastic leukemia(157;3.97e-05)|Melanoma(852;4.04e-05)|all_epithelial(67;0.000116)|all_hematologic(158;0.000315)|Breast(348;0.104)|all_neural(303;0.16)	1222					Q2KHM1|Q9Y4D6	Missense_Mutation	SNP	ENST00000265843.4	37	c.3665G>T	CCDS8341.1	.	.	.	.	.	.	.	.	.	.	C	16.12	3.033818	0.54896	.	.	ENSG00000110723	ENST00000265843;ENST00000428840;ENST00000443411;ENST00000525344;ENST00000526312;ENST00000533052	T;T;T;T;T;T	0.03920	4.35;4.27;4.12;4.34;4.2;3.76	5.75	2.66	0.31614	.	0.414417	0.25714	N	0.028790	T	0.03564	0.0102	N	0.22421	0.69	0.09310	N	1	B	0.26547	0.152	B	0.27170	0.077	T	0.38802	-0.9644	10	0.42905	T	0.14	-1.9874	7.2841	0.26328	0.0:0.6167:0.2346:0.1487	.	1222	Q8NEV8	EXPH5_HUMAN	L	1222;1146;1034;1215;1146;1034	ENSP00000265843:R1222L;ENSP00000391966:R1146L;ENSP00000411390:R1034L;ENSP00000432546:R1215L;ENSP00000432683:R1146L;ENSP00000446434:R1034L	ENSP00000265843:R1222L	R	-	2	0	EXPH5	107887779	0.000000	0.05858	0.015000	0.15790	0.362000	0.29581	0.656000	0.24948	1.437000	0.47472	0.655000	0.94253	CGT		PASS	0.383	EXPH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390279.1	NM_015065		54	263	54	263	---	---	---	---
NXPE4	54827	broad.mit.edu	37	11	114453140	114453140	+	Missense_Mutation	SNP	C	C	A			TCGA-22-4595-01A-01D-1267-08	TCGA-22-4595-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7fcf5123-2d1b-4666-9d39-a1aaf63cf954	850e8a4d-e0f6-4bd6-80f5-1c20e2b0e4f9	g.chr11:114453140C>A	ENST00000375478.3	-	3	880	c.700G>T	c.(700-702)Gac>Tac	p.D234Y	NXPE4_ENST00000424261.2_Intron	NM_001077639.1	NP_001071107.1	Q6UWF7	NXPE4_HUMAN	neurexophilin and PC-esterase domain family, member 4	234						extracellular vesicular exosome (GO:0070062)		p.D234Y(1)									TCTCTGTTGTCCAGGTACTGG	0.468																																						uc001ppc.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(2)	4						c.(700-702)GAC>TAC		hypothetical protein LOC54827 isoform 1							127.0	127.0	127.0					11																	114453140		2128	4256	6384	SO:0001583	missense	54827					extracellular region		g.chr11:114453140C>A	AK000134	CCDS41718.1, CCDS44737.1	11q23.3	2012-06-14	2012-06-11	2012-06-11	ENSG00000137634	ENSG00000137634			23117	protein-coding gene	gene with protein product			"""chromosome 11 open reading frame 33"", ""family with sequence similarity 55, member D"""	C11orf33, FAM55D		20056006	Standard	NM_017678		Approved	FLJ20127	uc001ppc.3	Q6UWF7	OTTHUMG00000168291	ENST00000375478.3:c.700G>T	11.37:g.114453140C>A	ENSP00000364627:p.Asp234Tyr					FAM55D_uc001ppd.2_Intron	p.D234Y	NM_001077639	NP_001071107	Q6UWF7	FA55D_HUMAN		BRCA - Breast invasive adenocarcinoma(274;2.82e-06)|Epithelial(105;0.000129)|all cancers(92;0.000938)	3	881	-		all_cancers(61;8.53e-16)|all_epithelial(67;1.71e-08)|all_hematologic(158;3.05e-05)|Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0194)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.0906)	234					Q6QDB4|Q9NXP5	Missense_Mutation	SNP	ENST00000375478.3	37	c.700G>T	CCDS41718.1	.	.	.	.	.	.	.	.	.	.	C	11.20	1.567405	0.28003	.	.	ENSG00000137634	ENST00000375478	T	0.14766	2.48	5.16	3.3	0.37823	.	0.188136	0.36854	N	0.002364	T	0.30572	0.0769	M	0.92268	3.29	0.36328	D	0.858661	P	0.43477	0.808	P	0.48089	0.566	T	0.37220	-0.9715	10	0.59425	D	0.04	.	7.318	0.26511	0.0:0.7305:0.0:0.2695	.	234	Q6UWF7	FA55D_HUMAN	Y	234	ENSP00000364627:D234Y	ENSP00000364627:D234Y	D	-	1	0	FAM55D	113958350	0.739000	0.28196	0.814000	0.32528	0.075000	0.17131	0.579000	0.23788	0.683000	0.31428	0.591000	0.81541	GAC		PASS	0.468	NXPE4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000399179.1	NM_017678		58	185	58	185	---	---	---	---
IL10RA	3587	broad.mit.edu	37	11	117860271	117860271	+	Silent	SNP	G	G	T			TCGA-22-4595-01A-01D-1267-08	TCGA-22-4595-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7fcf5123-2d1b-4666-9d39-a1aaf63cf954	850e8a4d-e0f6-4bd6-80f5-1c20e2b0e4f9	g.chr11:117860271G>T	ENST00000227752.3	+	3	423	c.303G>T	c.(301-303)cgG>cgT	p.R101R	IL10RA_ENST00000545409.1_Intron|IL10RA_ENST00000541785.1_Silent_p.R81R|IL10RA_ENST00000533700.1_3'UTR	NM_001558.3	NP_001549.2	Q13651	I10R1_HUMAN	interleukin 10 receptor, alpha	101			R -> W (in IBD28). {ECO:0000269|PubMed:23839161, ECO:0000269|PubMed:24785691}.		cytokine-mediated signaling pathway (GO:0019221)|response to lipopolysaccharide (GO:0032496)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	interleukin-10 receptor activity (GO:0004920)|receptor activity (GO:0004872)|signal transducer activity (GO:0004871)	p.R101R(1)		NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(10)|ovary(2)|prostate(1)	19	all_hematologic(175;0.0487)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;3.07e-05)|Epithelial(105;0.00108)		CCAGAGTGCGGGCTGTGGACG	0.577																																						uc001prv.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(301-303)CGG>CGT		interleukin 10 receptor, alpha precursor							72.0	62.0	65.0					11																	117860271		2200	4296	6496	SO:0001819	synonymous_variant	3587					integral to membrane|plasma membrane	interleukin-10 receptor activity	g.chr11:117860271G>T	U00672	CCDS8388.1	11q23	2014-09-17			ENSG00000110324	ENSG00000110324		"""Interleukins and interleukin receptors"", ""CD molecules"""	5964	protein-coding gene	gene with protein product		146933		IL10R		8120391	Standard	NR_026691		Approved	HIL-10R, CDW210A, CD210a, CD210	uc001prv.3	Q13651	OTTHUMG00000166523	ENST00000227752.3:c.303G>T	11.37:g.117860271G>T						IL10RA_uc010rxl.1_Silent_p.R81R|IL10RA_uc010rxm.1_Silent_p.R81R|IL10RA_uc010rxn.1_Intron|IL10RA_uc001prw.2_5'UTR	p.R101R	NM_001558	NP_001549	Q13651	I10R1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;3.07e-05)|Epithelial(105;0.00108)	3	380	+	all_hematologic(175;0.0487)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)	101			Extracellular (Potential).		A8K6I0|B0YJ27	Silent	SNP	ENST00000227752.3	37	c.303G>T	CCDS8388.1																																																																																				PASS	0.577	IL10RA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390167.1			17	39	17	39	---	---	---	---
HINFP	25988	broad.mit.edu	37	11	119004999	119004999	+	Missense_Mutation	SNP	G	G	C			TCGA-22-4595-01A-01D-1267-08	TCGA-22-4595-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7fcf5123-2d1b-4666-9d39-a1aaf63cf954	850e8a4d-e0f6-4bd6-80f5-1c20e2b0e4f9	g.chr11:119004999G>C	ENST00000350777.2	+	10	1408	c.1345G>C	c.(1345-1347)Gaa>Caa	p.E449Q	HINFP_ENST00000527410.1_3'UTR	NM_001243259.1|NM_015517.4|NM_198971.2	NP_001230188.1|NP_056332.2|NP_945322.1	Q9BQA5	HINFP_HUMAN	histone H4 transcription factor	449	Interaction with NPAT.				DNA damage checkpoint (GO:0000077)|DNA repair (GO:0006281)|establishment of protein localization (GO:0045184)|G1/S transition of mitotic cell cycle (GO:0000082)|in utero embryonic development (GO:0001701)|myoblast differentiation (GO:0045445)|negative regulation of gene expression (GO:0010629)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of gene expression (GO:0010628)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of gene expression (GO:0010468)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	Cajal body (GO:0015030)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone binding (GO:0042393)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription regulatory region DNA binding (GO:0044212)	p.E449Q(1)		endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|pancreas(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	23						CAAGGGTAGCGAAGGGACAGC	0.562											OREG0021397	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc001pvp.2																			1	Substitution - Missense(1)		lung(1)	pancreas(2)|ovary(1)|skin(1)	4						c.(1345-1347)GAA>CAA		MBD2 (methyl-CpG-binding protein)-interacting							116.0	109.0	112.0					11																	119004999		2200	4295	6495	SO:0001583	missense	25988				DNA damage checkpoint|DNA repair|establishment of protein localization|in utero embryonic development|myoblast differentiation|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|regulation of transcription involved in G1/S phase of mitotic cell cycle	Cajal body	enzyme binding|histone binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription regulatory region DNA binding|zinc ion binding	g.chr11:119004999G>C	AL080201	CCDS8414.1, CCDS58188.1	11q23.3	2013-01-08	2009-01-22	2009-01-22	ENSG00000172273	ENSG00000172273		"""Zinc fingers, C2H2-type"""	17850	protein-coding gene	gene with protein product	"""histone nuclear factor P"""	607099	"""MBD2-interacting zinc finger 1"", ""MBD2-interacting zinc finger"""	MIZF		11553631	Standard	NM_015517		Approved	DKFZP434F162, HiNF-P, ZNF743	uc001pvq.3	Q9BQA5	OTTHUMG00000166168	ENST00000350777.2:c.1345G>C	11.37:g.119004999G>C	ENSP00000318085:p.Glu449Gln		OREG0021397	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1492	HINFP_uc001pvq.2_Missense_Mutation_p.E449Q|HINFP_uc001pvr.2_Missense_Mutation_p.E202Q	p.E449Q	NM_015517	NP_056332	Q9BQA5	HINFP_HUMAN			11	1534	+			449			Interaction with NPAT.		B3KPH6|B4DWB4|E9PQF4|Q96E65|Q9Y4M7	Missense_Mutation	SNP	ENST00000350777.2	37	c.1345G>C	CCDS8414.1	.	.	.	.	.	.	.	.	.	.	G	6.786	0.513948	0.12944	.	.	ENSG00000172273	ENST00000350777	T	0.08896	3.04	4.98	4.07	0.47477	.	0.350346	0.25109	N	0.033078	T	0.07908	0.0198	L	0.36672	1.1	0.80722	D	1	B	0.24186	0.099	B	0.25614	0.062	T	0.23547	-1.0185	10	0.30854	T	0.27	-9.0386	11.2918	0.49254	0.0849:0.0:0.9151:0.0	.	449	Q9BQA5	HINFP_HUMAN	Q	449	ENSP00000318085:E449Q	ENSP00000318085:E449Q	E	+	1	0	HINFP	118510209	0.121000	0.22262	0.301000	0.25044	0.027000	0.11550	2.167000	0.42415	1.328000	0.45358	0.655000	0.94253	GAA		PASS	0.562	HINFP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388201.2	NM_015517		34	100	34	100	---	---	---	---
WNK1	65125	broad.mit.edu	37	12	994800	994800	+	Silent	SNP	G	G	T			TCGA-22-4595-01A-01D-1267-08	TCGA-22-4595-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7fcf5123-2d1b-4666-9d39-a1aaf63cf954	850e8a4d-e0f6-4bd6-80f5-1c20e2b0e4f9	g.chr12:994800G>T	ENST00000315939.6	+	19	5473	c.4830G>T	c.(4828-4830)gtG>gtT	p.V1610V	WNK1_ENST00000530271.2_Silent_p.V2108V|WNK1_ENST00000340908.4_Silent_p.V1203V|WNK1_ENST00000537687.1_Silent_p.V1870V|WNK1_ENST00000535572.1_Silent_p.V1363V	NM_018979.3	NP_061852.3	Q9H4A3	WNK1_HUMAN	WNK lysine deficient protein kinase 1	1610					intracellular signal transduction (GO:0035556)|ion transport (GO:0006811)|negative regulation of pancreatic juice secretion (GO:0090188)|negative regulation of phosphatase activity (GO:0010923)|neuron development (GO:0048666)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of systemic arterial blood pressure (GO:0003084)|protein phosphorylation (GO:0006468)|regulation of cellular process (GO:0050794)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|chloride channel inhibitor activity (GO:0019869)|phosphatase binding (GO:0019902)|protein kinase inhibitor activity (GO:0004860)|protein serine/threonine kinase activity (GO:0004674)	p.V1870V(1)|p.V1610V(1)		breast(7)|central_nervous_system(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(43)|ovary(6)|prostate(3)|skin(7)|stomach(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	104	all_cancers(10;0.00611)|all_epithelial(11;0.00825)|all_lung(10;0.0331)|Ovarian(42;0.0512)|Lung NSC(10;0.0632)		Epithelial(1;1.74e-08)|all cancers(1;7.04e-08)|OV - Ovarian serous cystadenocarcinoma(31;0.000423)|BRCA - Breast invasive adenocarcinoma(9;0.0149)|Colorectal(1;0.0197)			TTGCCAATGTGCCTGCTGTAC	0.478																																					Colon(19;451 567 6672 12618 28860)	uc001qio.3																			2	Substitution - coding silent(2)		lung(2)	stomach(6)|breast(6)|ovary(5)|lung(4)|large_intestine(1)|central_nervous_system(1)	23						c.(4828-4830)GTG>GTT		WNK lysine deficient protein kinase 1							133.0	126.0	129.0					12																	994800		2203	4300	6503	SO:0001819	synonymous_variant	65125				intracellular protein kinase cascade|ion transport|neuron development	cytoplasm	ATP binding|protein binding|protein kinase inhibitor activity|protein serine/threonine kinase activity	g.chr12:994800G>T	AJ296290	CCDS8506.1, CCDS53731.1, CCDS73419.1	12p13.3	2014-09-17	2005-01-19	2005-01-21	ENSG00000060237	ENSG00000060237			14540	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 167"""	605232	"""protein kinase, lysine deficient 1"", ""hereditary sensory neuropathy, type II"""	PRKWNK1, HSN2			Standard	NM_001184985		Approved	HSAN2, PPP1R167	uc031qfk.1	Q9H4A3	OTTHUMG00000090321	ENST00000315939.6:c.4830G>T	12.37:g.994800G>T						WNK1_uc001qip.3_Silent_p.V1363V|WNK1_uc001qir.3_Silent_p.V783V	p.V1610V	NM_018979	NP_061852	Q9H4A3	WNK1_HUMAN	Epithelial(1;1.74e-08)|all cancers(1;7.04e-08)|OV - Ovarian serous cystadenocarcinoma(31;0.000423)|BRCA - Breast invasive adenocarcinoma(9;0.0149)|Colorectal(1;0.0197)		19	5337	+	all_cancers(10;0.00611)|all_epithelial(11;0.00825)|all_lung(10;0.0331)|Ovarian(42;0.0512)|Lung NSC(10;0.0632)		1610					A1L4B0|C5HTZ5|C5HTZ6|C5HTZ7|H6WZW3|O15052|P54963|Q4VBX9|Q6IFS5|Q86WL5|Q8N673|Q96CZ6|Q9P1S9	Silent	SNP	ENST00000315939.6	37	c.4830G>T	CCDS8506.1																																																																																				PASS	0.478	WNK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206683.1	NM_018979		125	213	125	213	---	---	---	---
ZNF384	171017	broad.mit.edu	37	12	6788168	6788168	+	Missense_Mutation	SNP	G	G	T			TCGA-22-4595-01A-01D-1267-08	TCGA-22-4595-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7fcf5123-2d1b-4666-9d39-a1aaf63cf954	850e8a4d-e0f6-4bd6-80f5-1c20e2b0e4f9	g.chr12:6788168G>T	ENST00000396801.3	-	4	455	c.248C>A	c.(247-249)tCc>tAc	p.S83Y	ZNF384_ENST00000355772.4_Missense_Mutation_p.S83Y|ZNF384_ENST00000396799.2_Missense_Mutation_p.S83Y|ZNF384_ENST00000396795.1_Missense_Mutation_p.S83Y|ZNF384_ENST00000361959.3_Missense_Mutation_p.S83Y|ZNF384_ENST00000319770.3_Missense_Mutation_p.S83Y	NM_001135734.2	NP_001129206.1	Q8TF68	ZN384_HUMAN	zinc finger protein 384	83					nucleocytoplasmic transport (GO:0006913)|positive regulation of protein secretion (GO:0050714)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	focal adhesion (GO:0005925)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)	p.S83Y(2)	EWSR1/ZNF384(4)	breast(3)|central_nervous_system(3)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)|urinary_tract(1)	18						CTGGGTAACGGACGCTTGGCT	0.562			T	"""EWSR1, TAF15 """	ALL																																	uc010sfh.1				Dom	yes		12	12p13	171017	T	zinc finger protein 384 (CIZ/NMP4)			L	EWSR1|TAF15 		ALL	EWSR1/ZNF384(4)	2	Substitution - Missense(2)		lung(2)	haematopoietic_and_lymphoid_tissue(4)|central_nervous_system(3)|kidney(1)	8						c.(247-249)TCC>TAC		nuclear matrix transcription factor 4 isoform d							181.0	169.0	173.0					12																	6788168		2203	4300	6503	SO:0001583	missense	171017				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr12:6788168G>T	U80738	CCDS8557.1, CCDS31732.1, CCDS44817.1	12p12	2013-01-08	2002-05-23	2002-05-24		ENSG00000126746		"""Zinc fingers, C2H2-type"""	11955	protein-coding gene	gene with protein product		609951	"""trinucleotide repeat containing 1"""	TNRC1		9225980, 11149472	Standard	NM_001135734		Approved	CAGH1A, CIZ, NMP4, NP	uc010sfh.2	Q8TF68		ENST00000396801.3:c.248C>A	12.37:g.6788168G>T	ENSP00000380019:p.Ser83Tyr					ZNF384_uc001qpz.2_Missense_Mutation_p.S83Y|ZNF384_uc001qqa.2_Missense_Mutation_p.S83Y|ZNF384_uc001qqb.2_Missense_Mutation_p.S83Y|ZNF384_uc001qqc.2_Missense_Mutation_p.S83Y|ZNF384_uc001qqd.2_Missense_Mutation_p.S83Y|ZNF384_uc001qqe.2_Missense_Mutation_p.S83Y|ZNF384_uc009zew.1_5'Flank	p.S83Y	NM_001135734	NP_001129206	Q8TF68	ZN384_HUMAN			4	456	-			83					O15407|Q7Z722|Q8N938	Missense_Mutation	SNP	ENST00000396801.3	37	c.248C>A	CCDS44817.1	.	.	.	.	.	.	.	.	.	.	G	14.02	2.411455	0.42817	.	.	ENSG00000126746	ENST00000319770;ENST00000396795;ENST00000396801;ENST00000361959;ENST00000355772;ENST00000396799;ENST00000417772;ENST00000436774;ENST00000542796;ENST00000540915;ENST00000535485;ENST00000538829;ENST00000542351;ENST00000544482;ENST00000537248	T;T;T;T;T;T;T	0.08807	3.15;3.11;3.05;3.05;3.1;3.11;3.43	5.24	5.24	0.73138	.	0.120746	0.64402	D	0.000020	T	0.17109	0.0411	N	0.22421	0.69	0.28278	N	0.924123	D;D;D;D	0.76494	0.999;0.998;0.986;0.998	D;D;P;P	0.63381	0.909;0.914;0.814;0.858	T	0.01397	-1.1365	10	0.66056	D	0.02	-12.1892	19.0331	0.92965	0.0:0.0:1.0:0.0	.	83;83;83;83	Q8TF68;Q8TF68-3;F8W6Q3;Q8TF68-2	ZN384_HUMAN;.;.;.	Y	83	ENSP00000321650:S83Y;ENSP00000380013:S83Y;ENSP00000380019:S83Y;ENSP00000354592:S83Y;ENSP00000348018:S83Y;ENSP00000380017:S83Y;ENSP00000412911:S83Y	ENSP00000321650:S83Y	S	-	2	0	ZNF384	6658429	1.000000	0.71417	0.046000	0.18839	0.691000	0.40173	6.843000	0.75384	2.724000	0.93272	0.561000	0.74099	TCC		PASS	0.562	ZNF384-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400712.1			60	364	60	364	---	---	---	---
ZNF384	171017	broad.mit.edu	37	12	6788212	6788212	+	Missense_Mutation	SNP	G	G	T			TCGA-22-4595-01A-01D-1267-08	TCGA-22-4595-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7fcf5123-2d1b-4666-9d39-a1aaf63cf954	850e8a4d-e0f6-4bd6-80f5-1c20e2b0e4f9	g.chr12:6788212G>T	ENST00000396801.3	-	4	411	c.204C>A	c.(202-204)gaC>gaA	p.D68E	ZNF384_ENST00000355772.4_Missense_Mutation_p.D68E|ZNF384_ENST00000396799.2_Missense_Mutation_p.D68E|ZNF384_ENST00000396795.1_Missense_Mutation_p.D68E|ZNF384_ENST00000361959.3_Missense_Mutation_p.D68E|ZNF384_ENST00000319770.3_Missense_Mutation_p.D68E	NM_001135734.2	NP_001129206.1	Q8TF68	ZN384_HUMAN	zinc finger protein 384	68					nucleocytoplasmic transport (GO:0006913)|positive regulation of protein secretion (GO:0050714)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	focal adhesion (GO:0005925)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)	p.D68E(2)	EWSR1/ZNF384(4)	breast(3)|central_nervous_system(3)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)|urinary_tract(1)	18						TGGACTCTGTGTCCATACTGA	0.592			T	"""EWSR1, TAF15 """	ALL																																	uc010sfh.1				Dom	yes		12	12p13	171017	T	zinc finger protein 384 (CIZ/NMP4)			L	EWSR1|TAF15 		ALL	EWSR1/ZNF384(4)	2	Substitution - Missense(2)		lung(2)	haematopoietic_and_lymphoid_tissue(4)|central_nervous_system(3)|kidney(1)	8						c.(202-204)GAC>GAA		nuclear matrix transcription factor 4 isoform d							184.0	168.0	173.0					12																	6788212		2203	4300	6503	SO:0001583	missense	171017				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr12:6788212G>T	U80738	CCDS8557.1, CCDS31732.1, CCDS44817.1	12p12	2013-01-08	2002-05-23	2002-05-24		ENSG00000126746		"""Zinc fingers, C2H2-type"""	11955	protein-coding gene	gene with protein product		609951	"""trinucleotide repeat containing 1"""	TNRC1		9225980, 11149472	Standard	NM_001135734		Approved	CAGH1A, CIZ, NMP4, NP	uc010sfh.2	Q8TF68		ENST00000396801.3:c.204C>A	12.37:g.6788212G>T	ENSP00000380019:p.Asp68Glu					ZNF384_uc001qpz.2_Missense_Mutation_p.D68E|ZNF384_uc001qqa.2_Missense_Mutation_p.D68E|ZNF384_uc001qqb.2_Missense_Mutation_p.D68E|ZNF384_uc001qqc.2_Missense_Mutation_p.D68E|ZNF384_uc001qqd.2_Missense_Mutation_p.D68E|ZNF384_uc001qqe.2_Missense_Mutation_p.D68E|ZNF384_uc009zew.1_5'Flank	p.D68E	NM_001135734	NP_001129206	Q8TF68	ZN384_HUMAN			4	412	-			68					O15407|Q7Z722|Q8N938	Missense_Mutation	SNP	ENST00000396801.3	37	c.204C>A	CCDS44817.1	.	.	.	.	.	.	.	.	.	.	G	9.679	1.148745	0.21288	.	.	ENSG00000126746	ENST00000319770;ENST00000396795;ENST00000396801;ENST00000361959;ENST00000355772;ENST00000396799;ENST00000417772;ENST00000436774;ENST00000542796;ENST00000540915;ENST00000535485;ENST00000538829;ENST00000542351;ENST00000544482;ENST00000537248	T;T;T;T;T;T;T	0.07327	3.28;3.27;3.2;3.2;3.29;3.27;3.62	5.24	2.09	0.27110	.	0.376195	0.29884	N	0.010960	T	0.05777	0.0151	L	0.36672	1.1	0.33314	D	0.566417	B;B;B;B	0.29301	0.241;0.009;0.016;0.096	B;B;B;B	0.25987	0.065;0.006;0.024;0.064	T	0.23013	-1.0200	10	0.28530	T	0.3	-12.6977	5.3496	0.16028	0.1169:0.1327:0.6149:0.1355	.	68;68;68;68	Q8TF68;Q8TF68-3;F8W6Q3;Q8TF68-2	ZN384_HUMAN;.;.;.	E	68	ENSP00000321650:D68E;ENSP00000380013:D68E;ENSP00000380019:D68E;ENSP00000354592:D68E;ENSP00000348018:D68E;ENSP00000380017:D68E;ENSP00000412911:D68E	ENSP00000321650:D68E	D	-	3	2	ZNF384	6658473	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	0.976000	0.29462	0.719000	0.32188	0.561000	0.74099	GAC		PASS	0.592	ZNF384-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400712.1			59	361	59	361	---	---	---	---
C1S	716	broad.mit.edu	37	12	7177909	7177909	+	Nonsense_Mutation	SNP	G	G	A			TCGA-22-4595-01A-01D-1267-08	TCGA-22-4595-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7fcf5123-2d1b-4666-9d39-a1aaf63cf954	850e8a4d-e0f6-4bd6-80f5-1c20e2b0e4f9	g.chr12:7177909G>A	ENST00000406697.1	+	15	2649	c.2021G>A	c.(2020-2022)tGg>tAg	p.W674*	C1S_ENST00000402681.3_Nonsense_Mutation_p.W507*|C1S_ENST00000360817.5_Nonsense_Mutation_p.W674*|C1S_ENST00000328916.3_Nonsense_Mutation_p.W674*			P09871	C1S_HUMAN	complement component 1, s subcomponent	674	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|innate immune response (GO:0045087)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|serine-type endopeptidase activity (GO:0004252)	p.W674*(1)		breast(1)|endometrium(5)|kidney(2)|large_intestine(8)|liver(4)|lung(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	33					Abciximab(DB00054)|Adalimumab(DB00051)|Basiliximab(DB00074)|Cetuximab(DB00002)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Muromonab(DB00075)|Rituximab(DB00073)|Trastuzumab(DB00072)	TATGTTGACTGGATAATGAAG	0.522																																					GBM(156;750 1943 12971 24779 31015)	uc001qsj.2																			1	Substitution - Nonsense(1)		lung(1)	skin(1)	1						c.(2020-2022)TGG>TAG		complement component 1, s subcomponent	Abciximab(DB00054)|Adalimumab(DB00051)|Basiliximab(DB00074)|Cetuximab(DB00002)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Rituximab(DB00073)|Trastuzumab(DB00072)						98.0	105.0	102.0					12																	7177909		2203	4300	6503	SO:0001587	stop_gained	716				complement activation, classical pathway|innate immune response|proteolysis	extracellular region	calcium ion binding|serine-type endopeptidase activity	g.chr12:7177909G>A		CCDS31735.1	12p13	2014-09-17			ENSG00000182326	ENSG00000182326	3.4.21.42	"""Complement system"""	1247	protein-coding gene	gene with protein product		120580					Standard	NM_201442		Approved		uc001qsl.3	P09871	OTTHUMG00000150305	ENST00000406697.1:c.2021G>A	12.37:g.7177909G>A	ENSP00000385035:p.Trp674*					C1S_uc001qsk.2_Nonsense_Mutation_p.W674*|C1S_uc001qsl.2_Nonsense_Mutation_p.W674*|C1S_uc009zfr.2_Nonsense_Mutation_p.W507*|C1S_uc009zfs.2_RNA	p.W674*	NM_201442	NP_958850	P09871	C1S_HUMAN			15	2740	+			674			Peptidase S1.		D3DUT4|Q9UCU7|Q9UCU8|Q9UCU9|Q9UCV0|Q9UCV1|Q9UCV2|Q9UCV3|Q9UCV4|Q9UCV5|Q9UM14	Nonsense_Mutation	SNP	ENST00000406697.1	37	c.2021G>A	CCDS31735.1	.	.	.	.	.	.	.	.	.	.	G	42	9.294367	0.99128	.	.	ENSG00000182326	ENST00000406697;ENST00000328916;ENST00000360817;ENST00000382222;ENST00000402681	.	.	.	5.01	5.01	0.66863	.	0.231704	0.23196	N	0.050857	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	18.5209	0.90952	0.0:0.0:1.0:0.0	.	.	.	.	X	674;674;674;668;507	.	ENSP00000328173:W674X	W	+	2	0	C1S	7048170	1.000000	0.71417	1.000000	0.80357	0.528000	0.34623	8.816000	0.91979	2.596000	0.87737	0.561000	0.74099	TGG		PASS	0.522	C1S-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317481.1	NM_001734		5	409	5	409	---	---	---	---
CLEC4C	170482	broad.mit.edu	37	12	7882298	7882298	+	Missense_Mutation	SNP	C	C	A			TCGA-22-4595-01A-01D-1267-08	TCGA-22-4595-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7fcf5123-2d1b-4666-9d39-a1aaf63cf954	850e8a4d-e0f6-4bd6-80f5-1c20e2b0e4f9	g.chr12:7882298C>A	ENST00000542353.1	-	7	1026	c.536G>T	c.(535-537)cGt>cTt	p.R179L	CLEC4C_ENST00000360345.3_Missense_Mutation_p.R179L|CLEC4C_ENST00000540085.1_Missense_Mutation_p.R148L|CLEC4C_ENST00000354629.5_Missense_Mutation_p.R148L	NM_130441.2	NP_569708.1	Q8WTT0	CLC4C_HUMAN	C-type lectin domain family 4, member C	179	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				innate immune response (GO:0045087)	integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)	p.R179L(2)		autonomic_ganglia(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25				Kidney(36;0.0915)		TATCGCACAACGCTCATCAAG	0.418																																						uc001qtg.1																			2	Substitution - Missense(2)		lung(2)	ovary(2)|skin(1)	3						c.(535-537)CGT>CTT		C-type lectin domain family 4, member C isoform							150.0	139.0	143.0					12																	7882298		2203	4300	6503	SO:0001583	missense	170482				innate immune response	integral to membrane	sugar binding	g.chr12:7882298C>A	AF325460	CCDS8583.1, CCDS8584.1	12p13.2-p12.3	2008-02-05	2004-02-13	2005-02-11	ENSG00000198178	ENSG00000198178		"""C-type lectin domain containing"", ""CD molecules"""	13258	protein-coding gene	gene with protein product		606677	"""C-type (calcium dependent, carbohydrate-recognition domain) lectin, superfamily member 7"""	CLECSF11, CLECSF7		11031109, 11536172	Standard	NM_130441		Approved	HECL, DLEC, BDCA2, CD303	uc001qth.1	Q8WTT0	OTTHUMG00000168441	ENST00000542353.1:c.536G>T	12.37:g.7882298C>A	ENSP00000440428:p.Arg179Leu					CLEC4C_uc001qth.1_Missense_Mutation_p.R179L|CLEC4C_uc001qti.1_Missense_Mutation_p.R148L	p.R179L	NM_130441	NP_569708	Q8WTT0	CLC4C_HUMAN		Kidney(36;0.0915)	6	710	-			179			Extracellular (Potential).|C-type lectin.		D3DUU3|Q3T1C3|Q6UXS8|Q8WXX8	Missense_Mutation	SNP	ENST00000542353.1	37	c.536G>T	CCDS8583.1	.	.	.	.	.	.	.	.	.	.	C	12.28	1.890277	0.33348	.	.	ENSG00000198178	ENST00000542353;ENST00000354629;ENST00000540085;ENST00000360345	T;T;T;T	0.16897	2.31;2.31;2.31;2.31	1.6	-1.41	0.08941	C-type lectin fold (1);C-type lectin-like (1);C-type lectin (3);	.	.	.	.	T	0.17831	0.0428	N	0.11927	0.2	0.09310	N	1	P;D	0.89917	0.927;1.0	B;D	0.72625	0.231;0.978	T	0.17289	-1.0374	9	0.59425	D	0.04	.	4.8384	0.13476	0.0:0.4369:0.0:0.5631	.	148;179	Q8WTT0-2;Q8WTT0	.;CLC4C_HUMAN	L	179;148;148;179	ENSP00000440428:R179L;ENSP00000346648:R148L;ENSP00000445338:R148L;ENSP00000353500:R179L	ENSP00000346648:R148L	R	-	2	0	CLEC4C	7773565	0.001000	0.12720	0.007000	0.13788	0.005000	0.04900	-0.644000	0.05415	-0.462000	0.06984	0.561000	0.74099	CGT		PASS	0.418	CLEC4C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399750.1	NM_203503		93	488	93	488	---	---	---	---
SLC2A3	6515	broad.mit.edu	37	12	8082408	8082408	+	Missense_Mutation	SNP	C	C	T			TCGA-22-4595-01A-01D-1267-08	TCGA-22-4595-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7fcf5123-2d1b-4666-9d39-a1aaf63cf954	850e8a4d-e0f6-4bd6-80f5-1c20e2b0e4f9	g.chr12:8082408C>T	ENST00000075120.7	-	6	973	c.733G>A	c.(733-735)Gag>Aag	p.E245K		NM_006931.2	NP_008862.1	P11169	GTR3_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 3	245					carbohydrate metabolic process (GO:0005975)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|L-ascorbic acid metabolic process (GO:0019852)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	glucose transmembrane transporter activity (GO:0005355)	p.E245K(1)		central_nervous_system(1)|cervix(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(14)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30				Kidney(36;0.0866)		CTTGCACTCTCATCTTTCATC	0.483																																					Colon(96;424 1461 14416 20933 23688)	uc001qtr.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|pancreas(1)	4						c.(733-735)GAG>AAG		solute carrier family 2 (facilitated glucose							142.0	116.0	124.0					12																	8082408		2203	4300	6503	SO:0001583	missense	6515				carbohydrate metabolic process|water-soluble vitamin metabolic process	integral to membrane|plasma membrane	D-glucose transmembrane transporter activity|dehydroascorbic acid transporter activity	g.chr12:8082408C>T	M20681	CCDS8586.1	12p13.3	2013-05-22			ENSG00000059804	ENSG00000059804		"""Solute carriers"""	11007	protein-coding gene	gene with protein product		138170		GLUT3			Standard	NM_006931		Approved		uc001qtr.3	P11169	OTTHUMG00000133685	ENST00000075120.7:c.733G>A	12.37:g.8082408C>T	ENSP00000075120:p.Glu245Lys					SLC2A3_uc001qts.2_3'UTR	p.E245K	NM_006931	NP_008862	P11169	GTR3_HUMAN		Kidney(36;0.0866)	6	995	-			245			Cytoplasmic (Potential).		B2R606|D3DUU6|Q6I9U2|Q9UG15	Missense_Mutation	SNP	ENST00000075120.7	37	c.733G>A	CCDS8586.1	.	.	.	.	.	.	.	.	.	.	C	28.2	4.903480	0.92035	.	.	ENSG00000059804	ENST00000075120;ENST00000540978	T	0.74737	-0.87	4.41	4.41	0.53225	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.000000	0.85682	D	0.000000	D	0.87716	0.6247	M	0.88031	2.925	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.90070	0.4162	10	0.87932	D	0	.	14.8775	0.70504	0.0:1.0:0.0:0.0	.	245	P11169	GTR3_HUMAN	K	245;171	ENSP00000075120:E245K	ENSP00000075120:E245K	E	-	1	0	SLC2A3	7973675	1.000000	0.71417	0.940000	0.37924	0.919000	0.55068	6.898000	0.75676	2.439000	0.82584	0.462000	0.41574	GAG		PASS	0.483	SLC2A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257914.1	NM_006931		63	249	63	249	---	---	---	---
CLEC4E	26253	broad.mit.edu	37	12	8692491	8692491	+	Silent	SNP	G	G	A			TCGA-22-4595-01A-01D-1267-08	TCGA-22-4595-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7fcf5123-2d1b-4666-9d39-a1aaf63cf954	850e8a4d-e0f6-4bd6-80f5-1c20e2b0e4f9	g.chr12:8692491G>A	ENST00000299663.3	-	2	255	c.90C>T	c.(88-90)ccC>ccT	p.P30P	CLEC4E_ENST00000446457.2_Silent_p.P30P|CLEC4E_ENST00000545274.1_Silent_p.P30P	NM_014358.2	NP_055173.1	Q9ULY5	CLC4E_HUMAN	C-type lectin domain family 4, member E	30					immune response (GO:0006955)|positive regulation of cytokine secretion (GO:0050715)	integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|receptor activity (GO:0004872)	p.P30P(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	12	Lung SC(5;0.184)					GAAATAGGATGGGGATCCCAG	0.413																																						uc001quo.1																			1	Substitution - coding silent(1)		lung(1)	central_nervous_system(1)	1						c.(88-90)CCC>CCT		C-type lectin domain family 4, member E							219.0	218.0	218.0					12																	8692491		2203	4300	6503	SO:0001819	synonymous_variant	26253					integral to membrane	sugar binding	g.chr12:8692491G>A	AB024718	CCDS8594.1	12p13.31	2005-02-09		2005-02-09	ENSG00000166523	ENSG00000166523		"""C-type lectin domain containing"""	14555	protein-coding gene	gene with protein product		609962	"""C-type (calcium dependent, carbohydrate-recognition domain) lectin, superfamily member 9"""	CLECSF9		10528209	Standard	NM_014358		Approved	mincle	uc001quo.1	Q9ULY5	OTTHUMG00000168675	ENST00000299663.3:c.90C>T	12.37:g.8692491G>A							p.P30P	NM_014358	NP_055173	Q9ULY5	CLC4E_HUMAN			2	255	-	Lung SC(5;0.184)		30			Helical; Signal-anchor for type II membrane protein; (Potential).		B2R6Q6	Silent	SNP	ENST00000299663.3	37	c.90C>T	CCDS8594.1																																																																																				PASS	0.413	CLEC4E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400566.1	NM_014358		162	328	162	328	---	---	---	---
PZP	5858	broad.mit.edu	37	12	9304822	9304822	+	Silent	SNP	T	T	C			TCGA-22-4595-01A-01D-1267-08	TCGA-22-4595-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7fcf5123-2d1b-4666-9d39-a1aaf63cf954	850e8a4d-e0f6-4bd6-80f5-1c20e2b0e4f9	g.chr12:9304822T>C	ENST00000261336.2	-	32	4234	c.4206A>G	c.(4204-4206)gtA>gtG	p.V1402V	PZP_ENST00000381997.2_Silent_p.V1188V	NM_002864.2	NP_002855.2	P20742	PZP_HUMAN	pregnancy-zone protein	1402					female pregnancy (GO:0007565)|negative regulation of endopeptidase activity (GO:0010951)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	endopeptidase inhibitor activity (GO:0004866)|serine-type endopeptidase inhibitor activity (GO:0004867)	p.V1188V(1)|p.V1402V(1)		breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(21)|lung(46)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)	102						CTACCATTTTTACTGTTGGTT	0.363																																					Melanoma(125;1402 1695 4685 34487 38571)	uc001qvl.2																			2	Substitution - coding silent(2)		lung(2)	ovary(3)|upper_aerodigestive_tract(1)|large_intestine(1)	5						c.(4204-4206)GTA>GTG		pregnancy-zone protein precursor							110.0	107.0	108.0					12																	9304822		2203	4300	6503	SO:0001819	synonymous_variant	5858							g.chr12:9304822T>C	X54380, M24416, X51541	CCDS8600.1	12p13-p12.2	2008-02-01			ENSG00000126838	ENSG00000126838			9750	protein-coding gene	gene with protein product		176420					Standard	NM_002864		Approved	CPAMD6	uc001qvl.3	P20742	OTTHUMG00000154915	ENST00000261336.2:c.4206A>G	12.37:g.9304822T>C						PZP_uc009zgl.2_Silent_p.V1188V	p.V1402V	NM_002864	NP_002855					32	4235	-								A6ND27|Q15273|Q2NKL2|Q7M4N7	Silent	SNP	ENST00000261336.2	37	c.4206A>G	CCDS8600.1																																																																																				PASS	0.363	PZP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337624.1	NM_002864		35	141	35	141	---	---	---	---
TAS2R19	259294	broad.mit.edu	37	12	11174603	11174603	+	Missense_Mutation	SNP	G	G	C			TCGA-22-4595-01A-01D-1267-08	TCGA-22-4595-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7fcf5123-2d1b-4666-9d39-a1aaf63cf954	850e8a4d-e0f6-4bd6-80f5-1c20e2b0e4f9	g.chr12:11174603G>C	ENST00000390673.2	-	1	616	c.568C>G	c.(568-570)Ctg>Gtg	p.L190V	TAS2R14_ENST00000381852.4_Intron|PRR4_ENST00000536668.1_Intron	NM_176888.1	NP_795369.1	P59542	T2R19_HUMAN	taste receptor, type 2, member 19	190					sensory perception of taste (GO:0050909)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.L190V(1)		breast(1)|cervix(1)|large_intestine(2)|lung(10)|prostate(1)|skin(1)|stomach(1)	17						ATTAGGCTCAGAGTAAAGGGT	0.398																																						uc010shj.1																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(568-570)CTG>GTG		taste receptor, type 2, member 19							162.0	152.0	155.0					12																	11174603		2203	4300	6503	SO:0001583	missense	259294				sensory perception of taste	integral to membrane	G-protein coupled receptor activity	g.chr12:11174603G>C	AX097730, AF494234	CCDS8640.1	12p13.2	2012-08-22			ENSG00000212124	ENSG00000212124		"""Taste receptors / Type 2"", ""GPCR / Unclassified : Taste receptors"""	19108	protein-coding gene	gene with protein product		613961	"""taste receptor, type 2, member 48"", ""taste receptor, type 2, member 23"""	TAS2R48, TAS2R23			Standard	NM_176888		Approved	T2R19, T2R23	uc010shj.2	P59542	OTTHUMG00000162687	ENST00000390673.2:c.568C>G	12.37:g.11174603G>C	ENSP00000375091:p.Leu190Val					PRR4_uc009zhp.2_Intron|PRH1_uc001qzb.3_Intron|PRH1_uc001qzc.2_Intron|PRB4_uc001qzf.1_Intron|PRH1_uc001qzj.2_Intron	p.L190V	NM_176888	NP_795369	P59542	T2R19_HUMAN			1	568	-			190			Helical; Name=5; (Potential).		Q3MIJ4|Q645X8	Missense_Mutation	SNP	ENST00000390673.2	37	c.568C>G	CCDS8640.1	.	.	.	.	.	.	.	.	.	.	G	0.098	-1.156738	0.01686	.	.	ENSG00000212124	ENST00000390673	T	0.00700	5.82	2.69	-5.38	0.02673	.	0.595996	0.14662	U	0.305903	T	0.00580	0.0019	L	0.38175	1.15	0.09310	N	1	B	0.16396	0.017	B	0.24006	0.05	T	0.45833	-0.9234	10	0.22109	T	0.4	.	1.96	0.03384	0.2738:0.1132:0.4271:0.1858	.	190	P59542	T2R19_HUMAN	V	190	ENSP00000375091:L190V	ENSP00000375091:L190V	L	-	1	2	TAS2R19	11065870	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.764000	0.01800	-1.199000	0.02666	-0.718000	0.03613	CTG		PASS	0.398	TAS2R19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370080.1	NM_176888		60	310	60	310	---	---	---	---
ATF7IP	55729	broad.mit.edu	37	12	14613884	14613884	+	Missense_Mutation	SNP	G	G	C			TCGA-22-4595-01A-01D-1267-08	TCGA-22-4595-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7fcf5123-2d1b-4666-9d39-a1aaf63cf954	850e8a4d-e0f6-4bd6-80f5-1c20e2b0e4f9	g.chr12:14613884G>C	ENST00000540793.1	+	8	2769	c.2614G>C	c.(2614-2616)Gtg>Ctg	p.V872L	ATF7IP_ENST00000544627.1_Missense_Mutation_p.V880L|ATF7IP_ENST00000543189.1_Missense_Mutation_p.V871L|ATF7IP_ENST00000536444.1_Missense_Mutation_p.V871L|ATF7IP_ENST00000541654.1_3'UTR|ATF7IP_ENST00000261168.4_Missense_Mutation_p.V872L			Q6VMQ6	MCAF1_HUMAN	activating transcription factor 7 interacting protein	872					DNA methylation (GO:0006306)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of RNA polymerase II transcriptional preinitiation complex assembly (GO:0045898)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	nucleus (GO:0005634)		p.V872L(1)		cervix(1)|endometrium(7)|kidney(5)|large_intestine(10)|liver(2)|lung(22)|ovary(1)|prostate(4)|skin(1)|urinary_tract(1)	54						AACACTTGCTGTGCAGGCTGT	0.493																																						uc001rbw.2																			1	Substitution - Missense(1)		lung(1)	lung(3)|ovary(1)|skin(1)	5						c.(2614-2616)GTG>CTG		activating transcription factor 7 interacting							104.0	89.0	94.0					12																	14613884		2203	4300	6503	SO:0001583	missense	55729				DNA methylation|interspecies interaction between organisms|positive regulation of transcription, DNA-dependent|regulation of RNA polymerase II transcriptional preinitiation complex assembly|transcription, DNA-dependent		protein binding	g.chr12:14613884G>C	AJ242978	CCDS8663.1, CCDS66326.1, CCDS66327.1, CCDS73449.1	12p13.1	2005-11-18				ENSG00000171681			20092	protein-coding gene	gene with protein product		613644				10976766, 10777215	Standard	XM_005253424		Approved	FLJ10688, p621	uc001rbw.3	Q6VMQ6		ENST00000540793.1:c.2614G>C	12.37:g.14613884G>C	ENSP00000444589:p.Val872Leu					ATF7IP_uc010shs.1_3'UTR|ATF7IP_uc001rbu.2_Missense_Mutation_p.V872L|ATF7IP_uc001rbv.1_Missense_Mutation_p.V871L|ATF7IP_uc001rbx.2_Missense_Mutation_p.V871L|ATF7IP_uc010sht.1_3'UTR|ATF7IP_uc001rby.3_Missense_Mutation_p.V872L|ATF7IP_uc001rca.2_Missense_Mutation_p.V872L	p.V872L	NM_018179	NP_060649	Q6VMQ6	MCAF1_HUMAN			9	2772	+			872					F5GX74|G3V1U0|Q4G0T9|Q6P3T3|Q86XW5|Q9NVJ9|Q9NWC2|Q9Y4X8	Missense_Mutation	SNP	ENST00000540793.1	37	c.2614G>C	CCDS8663.1	.	.	.	.	.	.	.	.	.	.	G	25.5	4.645923	0.87958	.	.	ENSG00000171681	ENST00000261168;ENST00000543189;ENST00000536444;ENST00000544627;ENST00000540793	T;T;T;T;T	0.24908	1.92;1.83;1.92;1.98;1.92	6.16	6.16	0.99307	.	0.000000	0.64402	D	0.000006	T	0.51907	0.1702	M	0.61703	1.905	0.53688	D	0.999972	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.83275	0.994;0.994;0.996;0.996	T	0.24693	-1.0153	9	.	.	.	-15.683	20.8598	0.99761	0.0:0.0:1.0:0.0	.	871;872;871;483	G3V1U0;Q6VMQ6;Q6VMQ6-2;B3KQF8	.;MCAF1_HUMAN;.;.	L	872;871;871;880;872	ENSP00000261168:V872L;ENSP00000443179:V871L;ENSP00000445955:V871L;ENSP00000440440:V880L;ENSP00000444589:V872L	.	V	+	1	0	ATF7IP	14505151	1.000000	0.71417	0.992000	0.48379	0.943000	0.58893	4.768000	0.62293	2.937000	0.99478	0.650000	0.86243	GTG		PASS	0.493	ATF7IP-024	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000401400.1	NM_018179		37	93	37	93	---	---	---	---
PIK3C2G	5288	broad.mit.edu	37	12	18715656	18715656	+	Nonsense_Mutation	SNP	G	G	T			TCGA-22-4595-01A-01D-1267-08	TCGA-22-4595-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7fcf5123-2d1b-4666-9d39-a1aaf63cf954	850e8a4d-e0f6-4bd6-80f5-1c20e2b0e4f9	g.chr12:18715656G>T	ENST00000266497.5	+	25	3525	c.3487G>T	c.(3487-3489)Gag>Tag	p.E1163*	PIK3C2G_ENST00000433979.1_Nonsense_Mutation_p.E1163*|PIK3C2G_ENST00000538779.1_Nonsense_Mutation_p.E1204*			O75747	P3C2G_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 gamma	1163	PI3K/PI4K. {ECO:0000255|PROSITE- ProRule:PRU00269}.				chemotaxis (GO:0006935)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|phosphatidylinositol binding (GO:0035091)|phosphatidylinositol phosphate kinase activity (GO:0016307)	p.E1163*(4)		breast(5)|central_nervous_system(6)|endometrium(2)|kidney(4)|large_intestine(8)|lung(31)|ovary(2)|prostate(1)|skin(2)|stomach(4)|upper_aerodigestive_tract(1)	66		Hepatocellular(102;0.194)				GGAAAGTCTGGAGTGTTTCCC	0.378																																						uc001rdt.2																			4	Substitution - Nonsense(4)		lung(4)	lung(8)|central_nervous_system(6)|breast(3)|stomach(2)|ovary(2)	21						c.(3487-3489)GAG>TAG		phosphoinositide-3-kinase, class 2 gamma							49.0	47.0	48.0					12																	18715656		1849	4090	5939	SO:0001587	stop_gained	5288				cell communication|phosphatidylinositol-mediated signaling	membrane|phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity	g.chr12:18715656G>T	AJ000008	CCDS44839.1, CCDS73452.1	12p12	2012-07-13	2012-07-13		ENSG00000139144	ENSG00000139144	2.7.1.154		8973	protein-coding gene	gene with protein product		609001	"""phosphoinositide-3-kinase, class 2, gamma polypeptide"""			9878262	Standard	XM_005253393		Approved		uc001rdt.3	O75747	OTTHUMG00000168841	ENST00000266497.5:c.3487G>T	12.37:g.18715656G>T	ENSP00000266497:p.Glu1163*					PIK3C2G_uc010sia.1_RNA|PIK3C2G_uc010sib.1_Nonsense_Mutation_p.E1204*|PIK3C2G_uc010sic.1_Nonsense_Mutation_p.E982*	p.E1163*	NM_004570	NP_004561	O75747	P3C2G_HUMAN			26	3603	+		Hepatocellular(102;0.194)	1163			PI3K/PI4K.		A1L3U0	Nonsense_Mutation	SNP	ENST00000266497.5	37	c.3487G>T	CCDS44839.1	.	.	.	.	.	.	.	.	.	.	G	42	9.281459	0.99123	.	.	ENSG00000139144	ENST00000433979;ENST00000266497;ENST00000538779	.	.	.	4.24	4.24	0.50183	.	0.095681	0.42548	D	0.000690	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.14656	T	0.56	-10.5312	14.957	0.71124	0.0:0.0:1.0:0.0	.	.	.	.	X	1163;1163;1204	.	ENSP00000266497:E1163X	E	+	1	0	PIK3C2G	18606923	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.612000	0.67681	2.661000	0.90470	0.591000	0.81541	GAG		PASS	0.378	PIK3C2G-002	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401316.1	NM_004570		5	27	5	27	---	---	---	---
SLCO1A2	6579	broad.mit.edu	37	12	21446895	21446895	+	Missense_Mutation	SNP	C	C	T			TCGA-22-4595-01A-01D-1267-08	TCGA-22-4595-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7fcf5123-2d1b-4666-9d39-a1aaf63cf954	850e8a4d-e0f6-4bd6-80f5-1c20e2b0e4f9	g.chr12:21446895C>T	ENST00000307378.6	-	12	2141	c.1421G>A	c.(1420-1422)gGa>gAa	p.G474E	SLCO1A2_ENST00000390670.3_Missense_Mutation_p.G472E|SLCO1A2_ENST00000452078.1_Missense_Mutation_p.G474E|SLCO1A2_ENST00000458504.1_Missense_Mutation_p.G342E|SLCO1A2_ENST00000537524.1_Missense_Mutation_p.G342E	NM_134431.3	NP_602307.1	P46721	SO1A2_HUMAN	solute carrier organic anion transporter family, member 1A2	474	Kazal-like. {ECO:0000255|PROSITE- ProRule:PRU00798}.				bile acid and bile salt transport (GO:0015721)|bile acid metabolic process (GO:0008206)|organic anion transport (GO:0015711)|small molecule metabolic process (GO:0044281)|sodium-independent organic anion transport (GO:0043252)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	organic anion transmembrane transporter activity (GO:0008514)	p.G474E(1)		breast(2)|endometrium(2)|kidney(4)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|skin(6)|upper_aerodigestive_tract(1)	48					Aminohippurate(DB00345)|Atorvastatin(DB01076)|Bumetanide(DB00887)|Chlorambucil(DB00291)|Conjugated Estrogens(DB00286)|Cyclosporine(DB00091)|Dexamethasone(DB01234)|Digitoxin(DB01396)|Digoxin(DB00390)|Dinoprostone(DB00917)|Enalapril(DB00584)|Erythromycin(DB00199)|Estradiol(DB00783)|Estriol(DB04573)|Estrone(DB00655)|Fexofenadine(DB00950)|Glyburide(DB01016)|Hydrocortisone(DB00741)|Ibuprofen(DB01050)|Indinavir(DB00224)|Indomethacin(DB00328)|Ketoconazole(DB01026)|Ketoprofen(DB01009)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Liotrix(DB01583)|Lovastatin(DB00227)|Methotrexate(DB00563)|Methyltestosterone(DB06710)|Mirabegron(DB08893)|Naloxone(DB01183)|Naproxen(DB00788)|Nelfinavir(DB00220)|Ouabain(DB01092)|Pravastatin(DB00175)|Prednisolone(DB00860)|Prednisone(DB00635)|Probenecid(DB01032)|Quinidine(DB00908)|Quinine(DB00468)|Rifampicin(DB01045)|Ritonavir(DB00503)|Rocuronium(DB00728)|Rosuvastatin(DB01098)|Saquinavir(DB01232)|Simvastatin(DB00641)|Spironolactone(DB00421)|Sumatriptan(DB00669)|Tauroursodeoxycholic acid(DB08834)|Testosterone(DB00624)|Tolbutamide(DB01124)|Ursodeoxycholic acid(DB01586)|Verapamil(DB00661)	TATTCCCGTTCCAATGGATGT	0.393																																						uc001rer.2																			1	Substitution - Missense(1)		lung(1)	large_intestine(1)|pancreas(1)|ovary(1)|skin(1)	4						c.(1420-1422)GGA>GAA		organic anion transporting polypeptide A							119.0	103.0	108.0					12																	21446895		2203	4300	6503	SO:0001583	missense	6579				bile acid metabolic process|sodium-independent organic anion transport	integral to membrane|plasma membrane	bile acid transmembrane transporter activity|organic anion transmembrane transporter activity	g.chr12:21446895C>T		CCDS8686.1	12p12	2013-05-22	2003-11-25	2003-11-26	ENSG00000084453	ENSG00000084453		"""Solute carriers"""	10956	protein-coding gene	gene with protein product		602883	"""solute carrier family 21 (organic anion transporter), member 3"""	SLC21A3		9007731	Standard	NM_134431		Approved	OATP, OATP1A2, OATP-A	uc001rer.3	P46721	OTTHUMG00000156259	ENST00000307378.6:c.1421G>A	12.37:g.21446895C>T	ENSP00000305974:p.Gly474Glu					SLCO1A2_uc001res.2_Missense_Mutation_p.G474E|SLCO1A2_uc010siq.1_Missense_Mutation_p.G342E|SLCO1A2_uc010sio.1_Missense_Mutation_p.G342E|SLCO1A2_uc010sip.1_Missense_Mutation_p.G342E|SLCO1A2_uc001ret.2_Missense_Mutation_p.G472E	p.G474E	NM_021094	NP_066580	P46721	SO1A2_HUMAN			10	1672	-			474			Extracellular (Potential).|Kazal-like.		Q9UGP7|Q9UL38	Missense_Mutation	SNP	ENST00000307378.6	37	c.1421G>A	CCDS8686.1	.	.	.	.	.	.	.	.	.	.	C	15.10	2.734373	0.48939	.	.	ENSG00000084453	ENST00000307378;ENST00000452078;ENST00000458504;ENST00000537524;ENST00000390670	T;T;T;T;T	0.04156	3.69;3.69;3.69;3.69;3.69	4.93	4.93	0.64822	Proteinase inhibitor I1, Kazal (1);Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);Protease inhibitor, Kazal-type (1);	0.000000	0.85682	D	0.000000	T	0.21427	0.0516	M	0.77820	2.39	0.54753	D	0.999987	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.994	T	0.07520	-1.0768	10	0.18276	T	0.48	.	18.4877	0.90835	0.0:1.0:0.0:0.0	.	472;474	P46721-2;P46721	.;SO1A2_HUMAN	E	474;474;342;342;472	ENSP00000305974:G474E;ENSP00000393973:G474E;ENSP00000394854:G342E;ENSP00000439401:G342E;ENSP00000375088:G472E	ENSP00000305974:G474E	G	-	2	0	SLCO1A2	21338162	1.000000	0.71417	0.596000	0.28811	0.075000	0.17131	6.845000	0.75394	2.445000	0.82738	0.585000	0.79938	GGA		PASS	0.393	SLCO1A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343648.3	NM_021094		18	107	18	107	---	---	---	---
ABCC9	10060	broad.mit.edu	37	12	21968726	21968726	+	Missense_Mutation	SNP	C	C	A	rs200350065		TCGA-22-4595-01A-01D-1267-08	TCGA-22-4595-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7fcf5123-2d1b-4666-9d39-a1aaf63cf954	850e8a4d-e0f6-4bd6-80f5-1c20e2b0e4f9	g.chr12:21968726C>A	ENST00000261201.4	-	32	3993	c.3994G>T	c.(3994-3996)Gtc>Ttc	p.V1332F	ABCC9_ENST00000345162.2_Missense_Mutation_p.V1296F|ABCC9_ENST00000261200.4_Missense_Mutation_p.V1332F	NM_005691.2	NP_005682.2	O60706	ABCC9_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 9	1332	ABC transporter 2. {ECO:0000255|PROSITE- ProRule:PRU00434}.				defense response to virus (GO:0051607)|potassium ion import (GO:0010107)|potassium ion transport (GO:0006813)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	ATP-sensitive potassium channel complex (GO:0008282)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcomere (GO:0030017)|voltage-gated potassium channel complex (GO:0008076)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|ion channel binding (GO:0044325)|potassium channel activity (GO:0005267)|potassium channel regulator activity (GO:0015459)|sulfonylurea receptor activity (GO:0008281)|transporter activity (GO:0005215)	p.V1332F(2)		NS(2)|breast(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|lung(56)|ovary(4)|pancreas(1)|prostate(4)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(5)	118					Adenosine triphosphate(DB00171)|Glyburide(DB01016)	TAAGCCTTGACGTGCTTAAGA	0.383																																						uc001rfi.1																			2	Substitution - Missense(2)		lung(2)	ovary(4)|skin(2)	6						c.(3994-3996)GTC>TTC		ATP-binding cassette, sub-family C, member 9	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)						162.0	148.0	153.0					12																	21968726		2203	4300	6503	SO:0001583	missense	10060				defense response to virus|potassium ion import	ATP-sensitive potassium channel complex	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium channel regulator activity|sulfonylurea receptor activity	g.chr12:21968726C>A	AF061323	CCDS8693.1, CCDS8694.1	12p12.1	2014-09-17			ENSG00000069431	ENSG00000069431		"""ATP binding cassette transporters / subfamily C"""	60	protein-coding gene	gene with protein product	"""sulfonylurea receptor 2"""	601439				9457174, 15034580	Standard	NM_020297		Approved	SUR2, CMD1O	uc001rfh.3	O60706	OTTHUMG00000169094	ENST00000261201.4:c.3994G>T	12.37:g.21968726C>A	ENSP00000261201:p.Val1332Phe					ABCC9_uc001rfh.2_Missense_Mutation_p.V1332F|ABCC9_uc001rfj.1_Missense_Mutation_p.V1296F	p.V1332F	NM_005691	NP_005682	O60706	ABCC9_HUMAN			32	4014	-			1332			Cytoplasmic (Potential).|ABC transporter 2.		O60707	Missense_Mutation	SNP	ENST00000261201.4	37	c.3994G>T	CCDS8694.1	.	.	.	.	.	.	.	.	.	.	C	26.1	4.700625	0.88924	.	.	ENSG00000069431	ENST00000261200;ENST00000544039;ENST00000261201;ENST00000345162	D;D;D;D	0.95171	-3.63;-3.63;-3.63;-3.63	5.2	5.2	0.72013	ABC transporter-like (1);	0.000000	0.85682	D	0.000000	D	0.95937	0.8677	L	0.43554	1.36	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.83275	0.995;0.996	D	0.96333	0.9245	10	0.87932	D	0	-17.9173	17.0772	0.86589	0.0:1.0:0.0:0.0	.	1332;1332	O60706;O60706-2	ABCC9_HUMAN;.	F	1332;959;1332;1296	ENSP00000261200:V1332F;ENSP00000440521:V959F;ENSP00000261201:V1332F;ENSP00000261202:V1296F	ENSP00000261200:V1332F	V	-	1	0	ABCC9	21859993	1.000000	0.71417	1.000000	0.80357	0.912000	0.54170	7.148000	0.77389	2.689000	0.91719	0.650000	0.86243	GTC		PASS	0.383	ABCC9-002	KNOWN	not_organism_supported|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000402230.1	NM_005691		42	216	42	216	---	---	---	---
ALG10	84920	broad.mit.edu	37	12	34175630	34175630	+	Silent	SNP	A	A	T			TCGA-22-4595-01A-01D-1267-08	TCGA-22-4595-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7fcf5123-2d1b-4666-9d39-a1aaf63cf954	850e8a4d-e0f6-4bd6-80f5-1c20e2b0e4f9	g.chr12:34175630A>T	ENST00000266483.2	+	1	415	c.96A>T	c.(94-96)cgA>cgT	p.R32R	RP11-847H18.2_ENST00000501954.2_RNA|ALG10_ENST00000538927.1_Silent_p.R32R	NM_032834.3	NP_116223.3	Q5BKT4	AG10A_HUMAN	ALG10, alpha-1,2-glucosyltransferase	32					cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	transferase activity, transferring hexosyl groups (GO:0016758)	p.R32R(1)		NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	26	Lung NSC(5;3.82e-05)|Acute lymphoblastic leukemia(23;0.0142)|all_hematologic(23;0.0429)	Lung NSC(34;0.204)|all_lung(34;0.235)				GGGCGTTGCGAGAGCCCTACA	0.597																																						uc001rlm.2																			1	Substitution - coding silent(1)		lung(1)	skin(1)	1						c.(94-96)CGA>CGT		asparagine-linked glycosylation 10 homolog							175.0	185.0	182.0					12																	34175630		2203	4300	6503	SO:0001819	synonymous_variant	84920				dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|integral to membrane	dolichyl-phosphate-glucose-glycolipid alpha-glucosyltransferase activity	g.chr12:34175630A>T	AJ312278	CCDS41769.1	12p11.21	2013-03-04	2013-03-04		ENSG00000139133	ENSG00000139133	2.4.1.256		23162	protein-coding gene	gene with protein product	"""derepression of ITR1 expression 2 homolog (S. cerevisiae)"", ""dolichyl-P-Glc:Glc(2)Man(9)GlcNAc(2)-PP-dolichol alpha-1,2- glucosyltransferase"""	603313	"""asparagine-linked glycosylation 10, alpha-1,2-glucosyltransferase homolog (yeast)"", ""asparagine-linked glycosylation 10, alpha-1,2-glucosyltransferase homolog (S. pombe)"""				Standard	NM_032834		Approved	FLJ14751, DIE2, ALG10A	uc001rlm.3	Q5BKT4	OTTHUMG00000169285	ENST00000266483.2:c.96A>T	12.37:g.34175630A>T							p.R32R	NM_032834	NP_116223	Q5BKT4	AG10A_HUMAN			1	415	+	Lung NSC(5;3.82e-05)|Acute lymphoblastic leukemia(23;0.0142)|all_hematologic(23;0.0429)	Lung NSC(34;0.204)|all_lung(34;0.235)	32			Extracellular (Potential).		Q6NS98|Q96DU0|Q96SM6	Silent	SNP	ENST00000266483.2	37	c.96A>T	CCDS41769.1																																																																																				PASS	0.597	ALG10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403309.1	NM_032834		108	447	108	447	---	---	---	---
SLC4A8	9498	broad.mit.edu	37	12	51847358	51847358	+	Missense_Mutation	SNP	G	G	A			TCGA-22-4595-01A-01D-1267-08	TCGA-22-4595-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7fcf5123-2d1b-4666-9d39-a1aaf63cf954	850e8a4d-e0f6-4bd6-80f5-1c20e2b0e4f9	g.chr12:51847358G>A	ENST00000453097.2	+	5	666	c.449G>A	c.(448-450)gGa>gAa	p.G150E	SLC4A8_ENST00000394856.1_Missense_Mutation_p.G97E|SLC4A8_ENST00000514353.3_Missense_Mutation_p.G97E|SLC4A8_ENST00000535225.2_Missense_Mutation_p.G97E|SLC4A8_ENST00000358657.3_Missense_Mutation_p.G177E	NM_001039960.2|NM_001258401.2	NP_001035049.1|NP_001245330.1			solute carrier family 4, sodium bicarbonate cotransporter, member 8									p.G150E(2)|p.G97E(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(18)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|stomach(2)|urinary_tract(5)	55				BRCA - Breast invasive adenocarcinoma(357;0.15)		GAAGATGGGGGAGAACGCTGG	0.418																																						uc001rys.1																			3	Substitution - Missense(3)		lung(3)	ovary(3)|pancreas(1)|skin(1)	5						c.(448-450)GGA>GAA		solute carrier family 4, sodium bicarbonate							147.0	127.0	134.0					12																	51847358		2203	4300	6503	SO:0001583	missense	9498				bicarbonate transport|sodium ion transport	integral to membrane|plasma membrane	inorganic anion exchanger activity	g.chr12:51847358G>A	AB018282	CCDS44890.1, CCDS58232.1, CCDS58233.1, CCDS73470.1	12q13.13	2013-05-22			ENSG00000050438	ENSG00000050438		"""Solute carriers"""	11034	protein-coding gene	gene with protein product		605024				11133997	Standard	NM_001039960		Approved	NBC3	uc001rys.2	Q2Y0W8	OTTHUMG00000169489	ENST00000453097.2:c.449G>A	12.37:g.51847358G>A	ENSP00000405812:p.Gly150Glu					SLC4A8_uc010sni.1_Missense_Mutation_p.G97E|SLC4A8_uc001rym.2_Missense_Mutation_p.G97E|SLC4A8_uc001ryn.2_Missense_Mutation_p.G97E|SLC4A8_uc001ryo.2_Missense_Mutation_p.G97E|SLC4A8_uc001ryp.1_Missense_Mutation_p.G97E|SLC4A8_uc010snj.1_Missense_Mutation_p.G177E|SLC4A8_uc001ryq.3_Missense_Mutation_p.G150E|SLC4A8_uc001ryr.2_Missense_Mutation_p.G150E|SLC4A8_uc010snk.1_Missense_Mutation_p.G97E	p.G150E	NM_001039960	NP_001035049	Q2Y0W8	S4A8_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.15)	5	627	+			150			Extracellular (Potential).			Missense_Mutation	SNP	ENST00000453097.2	37	c.449G>A	CCDS44890.1	.	.	.	.	.	.	.	.	.	.	G	30	5.057434	0.93846	.	.	ENSG00000050438	ENST00000535225;ENST00000358657;ENST00000453097;ENST00000394856;ENST00000319957;ENST00000514353;ENST00000547697;ENST00000551071	T;T;T;T;T	0.79940	-1.32;-1.32;-1.32;-1.32;-1.32	5.43	5.43	0.79202	Bicarbonate transporter, cytoplasmic (2);Phosphotransferase/anion transporter (1);	0.000000	0.85682	D	0.000000	D	0.92120	0.7502	M	0.92738	3.34	0.80722	D	1	D;D;D;D;D;D;D	0.89917	1.0;0.995;1.0;0.988;0.989;0.996;1.0	D;D;D;D;D;D;D	0.97110	1.0;0.949;1.0;0.93;0.962;0.978;1.0	D	0.93567	0.6900	10	0.87932	D	0	.	17.1129	0.86680	0.0:0.0:1.0:0.0	.	97;177;97;150;150;150;97	E7EML0;Q2Y0W8-2;F5GZ31;Q2Y0W8;Q2Y0W8-3;Q2Y0W8-6;F8VSA8	.;.;.;S4A8_HUMAN;.;.;.	E	97;177;150;97;150;97;97;97	ENSP00000441520:G97E;ENSP00000351483:G177E;ENSP00000405812:G150E;ENSP00000378325:G97E;ENSP00000442561:G97E	ENSP00000315789:G150E	G	+	2	0	SLC4A8	50133625	1.000000	0.71417	1.000000	0.80357	0.947000	0.59692	9.776000	0.99001	2.728000	0.93425	0.462000	0.41574	GGA		PASS	0.418	SLC4A8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404356.1	NM_004858		44	104	44	104	---	---	---	---
SCN8A	6334	broad.mit.edu	37	12	52156414	52156414	+	Missense_Mutation	SNP	G	G	C			TCGA-22-4595-01A-01D-1267-08	TCGA-22-4595-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7fcf5123-2d1b-4666-9d39-a1aaf63cf954	850e8a4d-e0f6-4bd6-80f5-1c20e2b0e4f9	g.chr12:52156414G>C	ENST00000354534.6	+	15	2676	c.2498G>C	c.(2497-2499)aGt>aCt	p.S833T	SCN8A_ENST00000550891.1_Missense_Mutation_p.S833T|SCN8A_ENST00000545061.1_Missense_Mutation_p.S833T	NM_001177984.2|NM_014191.3	NP_001171455.1|NP_055006.1	Q9UQD0	SCN8A_HUMAN	sodium channel, voltage gated, type VIII, alpha subunit	833					adult walking behavior (GO:0007628)|axon guidance (GO:0007411)|membrane depolarization during action potential (GO:0086010)|muscle organ development (GO:0007517)|myelination (GO:0042552)|nervous system development (GO:0007399)|neuromuscular process (GO:0050905)|neuronal action potential (GO:0019228)|peripheral nervous system development (GO:0007422)|response to toxic substance (GO:0009636)|sensory perception of sound (GO:0007605)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	axon initial segment (GO:0043194)|cytoplasmic vesicle (GO:0031410)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|node of Ranvier (GO:0033268)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)|Z disc (GO:0030018)	ATP binding (GO:0005524)|voltage-gated sodium channel activity (GO:0005248)	p.S833T(2)		breast(2)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(19)|ovary(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55				BRCA - Breast invasive adenocarcinoma(357;0.181)	Valproic Acid(DB00313)	ATGGAACTGAGTCTAGCAGAC	0.408																																						uc001ryw.2																			2	Substitution - Missense(2)		lung(2)	ovary(7)	7						c.(2497-2499)AGT>ACT		sodium channel, voltage gated, type VIII, alpha	Lamotrigine(DB00555)						131.0	130.0	130.0					12																	52156414		1882	4128	6010	SO:0001583	missense	6334				axon guidance|myelination|peripheral nervous system development	cytoplasmic membrane-bounded vesicle|node of Ranvier	ATP binding|voltage-gated sodium channel activity	g.chr12:52156414G>C	AB027567	CCDS44891.1, CCDS53794.1	12q13.1	2012-02-26	2007-01-23			ENSG00000196876		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10596	protein-coding gene	gene with protein product		600702	"""sodium channel, voltage gated, type VIII, alpha polypeptide"""	MED		7670495, 9828131, 16382098	Standard	NM_014191		Approved	Nav1.6, NaCh6, PN4, CerIII	uc001ryw.4	Q9UQD0		ENST00000354534.6:c.2498G>C	12.37:g.52156414G>C	ENSP00000346534:p.Ser833Thr					SCN8A_uc010snl.1_Missense_Mutation_p.S698T|SCN8A_uc001ryy.2_Missense_Mutation_p.S698T	p.S833T	NM_014191	NP_055006	Q9UQD0	SCN8A_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.181)	15	2676	+			833			Helical; Name=S3 of repeat II; (Potential).|II.		B9VWG8|O95788|Q9NYX2|Q9UPB2	Missense_Mutation	SNP	ENST00000354534.6	37	c.2498G>C	CCDS44891.1	.	.	.	.	.	.	.	.	.	.	G	12.98	2.100861	0.37048	.	.	ENSG00000196876	ENST00000550891;ENST00000354534;ENST00000545061;ENST00000355133;ENST00000357961	D;D;D;D	0.98345	-4.88;-4.88;-4.88;-4.88	4.23	4.23	0.50019	Ion transport (1);	0.529435	0.20915	N	0.083398	D	0.95133	0.8423	N	0.21282	0.65	0.09310	N	0.999991	B;B;B	0.23650	0.004;0.004;0.089	B;B;B	0.22601	0.033;0.006;0.04	D	0.90548	0.4507	10	0.87932	D	0	.	13.7606	0.62963	0.0:0.0:0.8455:0.1544	.	833;833;833	F8VWM7;F8VRN5;Q9UQD0	.;.;SCN8A_HUMAN	T	833;833;833;833;746	ENSP00000448415:S833T;ENSP00000346534:S833T;ENSP00000440360:S833T;ENSP00000347255:S833T	ENSP00000346534:S833T	S	+	2	0	SCN8A	50442681	0.995000	0.38212	0.853000	0.33588	0.977000	0.68977	3.173000	0.50839	2.632000	0.89209	0.455000	0.32223	AGT		PASS	0.408	SCN8A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404372.3	NM_014191		46	122	46	122	---	---	---	---
NAB2	4665	broad.mit.edu	37	12	57485758	57485758	+	Missense_Mutation	SNP	G	G	T			TCGA-22-4595-01A-01D-1267-08	TCGA-22-4595-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7fcf5123-2d1b-4666-9d39-a1aaf63cf954	850e8a4d-e0f6-4bd6-80f5-1c20e2b0e4f9	g.chr12:57485758G>T	ENST00000300131.3	+	2	1312	c.934G>T	c.(934-936)Ggc>Tgc	p.G312C	NAB2_ENST00000342556.6_Missense_Mutation_p.G312C|NAB2_ENST00000357680.4_Missense_Mutation_p.G312C	NM_005967.3	NP_005958.1	Q15742	NAB2_HUMAN	NGFI-A binding protein 2 (EGR1 binding protein 2)	312	NCD2.				cell proliferation (GO:0008283)|endochondral ossification (GO:0001958)|myelination (GO:0042552)|negative regulation of transcription from RNA polymerase III promoter (GO:0016480)|nervous system development (GO:0007399)|regulation of epidermis development (GO:0045682)|Schwann cell differentiation (GO:0014037)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	transcription corepressor activity (GO:0003714)	p.G312C(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|ovary(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	20						GCGGCGGGAGGGCAAGCAGCT	0.547																																						uc001smz.2																			1	Substitution - Missense(1)		lung(1)	upper_aerodigestive_tract(1)|ovary(1)	2						c.(934-936)GGC>TGC		NGFI-A binding protein 2							51.0	53.0	53.0					12																	57485758		2203	4300	6503	SO:0001583	missense	4665				cell proliferation|negative regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent	nucleus	transcription corepressor activity	g.chr12:57485758G>T	BC065931	CCDS8930.1	12q13.3	2008-05-14				ENSG00000166886			7627	protein-coding gene	gene with protein product		602381				8668170, 8649813	Standard	XM_005268894		Approved	MADER	uc001smz.3	Q15742		ENST00000300131.3:c.934G>T	12.37:g.57485758G>T	ENSP00000300131:p.Gly312Cys						p.G312C	NM_005967	NP_005958	Q15742	NAB2_HUMAN			2	1312	+			312			NCD2.		B2RAK3|O76006|Q14797	Missense_Mutation	SNP	ENST00000300131.3	37	c.934G>T	CCDS8930.1	.	.	.	.	.	.	.	.	.	.	G	23.7	4.447101	0.84101	.	.	ENSG00000166886	ENST00000300131;ENST00000342556;ENST00000357680	.	.	.	5.16	5.16	0.70880	NAB co-repressor, domain (1);	0.000000	0.64402	D	0.000001	T	0.74084	0.3670	L	0.47190	1.495	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.76691	-0.2866	9	0.87932	D	0	-17.5661	16.131	0.81442	0.0:0.0:1.0:0.0	.	312	Q15742	NAB2_HUMAN	C	312	.	ENSP00000300131:G312C	G	+	1	0	NAB2	55772025	1.000000	0.71417	1.000000	0.80357	0.941000	0.58515	9.860000	0.99555	2.399000	0.81585	0.561000	0.74099	GGC		PASS	0.547	NAB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412222.1	NM_005967		39	87	39	87	---	---	---	---
SRRM4	84530	broad.mit.edu	37	12	119419808	119419808	+	Missense_Mutation	SNP	C	C	A			TCGA-22-4595-01A-01D-1267-08	TCGA-22-4595-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7fcf5123-2d1b-4666-9d39-a1aaf63cf954	850e8a4d-e0f6-4bd6-80f5-1c20e2b0e4f9	g.chr12:119419808C>A	ENST00000267260.4	+	1	509	c.121C>A	c.(121-123)Ccg>Acg	p.P41T		NM_194286.3	NP_919262.2	A7MD48	SRRM4_HUMAN	serine/arginine repetitive matrix 4	41					cell differentiation (GO:0030154)|mRNA processing (GO:0006397)|nervous system development (GO:0007399)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)|sensory perception of sound (GO:0007605)	nucleus (GO:0005634)	mRNA binding (GO:0003729)	p.P41T(2)|p.P138T(1)		breast(2)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)|upper_aerodigestive_tract(1)	24						GGCCCGCAAGCCGCTGCCAAG	0.607																																						uc001txa.1																			3	Substitution - Missense(3)		lung(3)	ovary(2)	2						c.(121-123)CCG>ACG		KIAA1853 protein							15.0	19.0	18.0					12																	119419808		1952	4128	6080	SO:0001583	missense	84530				cell differentiation|mRNA processing|nervous system development|regulation of RNA splicing|RNA splicing	nucleus	mRNA binding	g.chr12:119419808C>A	AB058756	CCDS44994.1	12q24.23	2009-09-22	2009-09-21	2009-09-21	ENSG00000139767	ENSG00000139767			29389	protein-coding gene	gene with protein product	"""neural-specific SR-related protein of 100 kDa"""	613103	"""KIAA1853"""	KIAA1853		19737518	Standard	NM_194286		Approved	nSR100	uc001txa.2	A7MD48	OTTHUMG00000168928	ENST00000267260.4:c.121C>A	12.37:g.119419808C>A	ENSP00000267260:p.Pro41Thr						p.P41T	NM_194286	NP_919262	A7MD48	SRRM4_HUMAN			1	413	+			41					A8K5P6|B2RZH7|Q7Z5F0|Q96JH4	Missense_Mutation	SNP	ENST00000267260.4	37	c.121C>A	CCDS44994.1	.	.	.	.	.	.	.	.	.	.	C	15.25	2.779027	0.49891	.	.	ENSG00000139767	ENST00000267260	T	0.25085	1.82	4.61	4.61	0.57282	.	0.242044	0.33572	N	0.004766	T	0.43211	0.1237	L	0.43152	1.355	0.43988	D	0.996684	D	0.67145	0.996	D	0.65684	0.937	T	0.36578	-0.9742	10	0.66056	D	0.02	-12.5085	18.0011	0.89198	0.0:1.0:0.0:0.0	.	41	A7MD48	SRRM4_HUMAN	T	41	ENSP00000267260:P41T	ENSP00000267260:P41T	P	+	1	0	SRRM4	117904191	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	4.031000	0.57267	2.534000	0.85438	0.643000	0.83706	CCG		PASS	0.607	SRRM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401640.2	NM_194286		3	3	3	3	---	---	---	---
RNF17	56163	broad.mit.edu	37	13	25363490	25363490	+	Missense_Mutation	SNP	T	T	A			TCGA-22-4595-01A-01D-1267-08	TCGA-22-4595-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7fcf5123-2d1b-4666-9d39-a1aaf63cf954	850e8a4d-e0f6-4bd6-80f5-1c20e2b0e4f9	g.chr13:25363490T>A	ENST00000255324.5	+	8	840	c.788T>A	c.(787-789)aTc>aAc	p.I263N	RNF17_ENST00000381921.1_Missense_Mutation_p.I263N|RNF17_ENST00000255325.6_Missense_Mutation_p.I263N|RNF17_ENST00000255326.4_3'UTR	NM_001184993.1|NM_031277.2	NP_001171922.1|NP_112567.2	Q9BXT8	RNF17_HUMAN	ring finger protein 17	263					multicellular organismal development (GO:0007275)|spermatid development (GO:0007286)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	hydrolase activity, acting on ester bonds (GO:0016788)|nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)	p.I263N(2)		NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(15)|ovary(1)|prostate(3)|skin(6)	36		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0114)|OV - Ovarian serous cystadenocarcinoma(117;0.0311)|Epithelial(112;0.0524)		TTCTAGATTATCCGGACTTTG	0.333																																						uc001upr.2																			2	Substitution - Missense(2)		lung(2)	ovary(1)|skin(1)	2						c.(787-789)ATC>AAC		ring finger protein 17							99.0	111.0	107.0					13																	25363490		2203	4296	6499	SO:0001583	missense	56163				multicellular organismal development	cytoplasm|nucleus	hydrolase activity, acting on ester bonds|nucleic acid binding|zinc ion binding	g.chr13:25363490T>A	AF285602, AK001907	CCDS9308.2	13q12.13	2013-01-23			ENSG00000132972	ENSG00000132972		"""RING-type (C3HC4) zinc fingers"", ""Tudor domain containing"""	10060	protein-coding gene	gene with protein product	"""spermatogenesis associated 23"""	605793	"""tudor domain containing 4"""	TDRD4		11279525	Standard	NM_001184993		Approved	Mmip-2, SPATA23, FLJ11045	uc001upr.3	Q9BXT8	OTTHUMG00000016589	ENST00000255324.5:c.788T>A	13.37:g.25363490T>A	ENSP00000255324:p.Ile263Asn					RNF17_uc010tdd.1_Missense_Mutation_p.I122N|RNF17_uc010aab.2_RNA|RNF17_uc010tde.1_Missense_Mutation_p.I263N|RNF17_uc001ups.2_Missense_Mutation_p.I202N|RNF17_uc001upq.1_Missense_Mutation_p.I263N	p.I263N	NM_031277	NP_112567	Q9BXT8	RNF17_HUMAN		all cancers(112;0.0114)|OV - Ovarian serous cystadenocarcinoma(117;0.0311)|Epithelial(112;0.0524)	8	829	+		Lung SC(185;0.0225)|Breast(139;0.077)	263					Q5T2J9|Q6P1W3|Q9BXT7|Q9NUY9	Missense_Mutation	SNP	ENST00000255324.5	37	c.788T>A	CCDS9308.2	.	.	.	.	.	.	.	.	.	.	T	13.29	2.193531	0.38707	.	.	ENSG00000132972	ENST00000255324;ENST00000381921;ENST00000429047;ENST00000255325;ENST00000255326	T;T;T	0.26373	2.91;2.92;1.74	4.51	4.51	0.55191	.	0.177518	0.38492	N	0.001663	T	0.35335	0.0928	L	0.34521	1.04	0.38174	D	0.939426	D;D;D	0.89917	0.999;0.998;1.0	D;D;D	0.91635	0.942;0.915;0.999	T	0.14476	-1.0471	10	0.27785	T	0.31	.	10.1603	0.42847	0.0:0.0:0.0:1.0	.	263;263;263	B7Z7S1;Q9BXT8;Q9BXT8-2	.;RNF17_HUMAN;.	N	263;263;122;264;263	ENSP00000255324:I263N;ENSP00000371346:I263N;ENSP00000255325:I264N	ENSP00000255324:I263N	I	+	2	0	RNF17	24261490	0.997000	0.39634	0.979000	0.43373	0.212000	0.24457	3.909000	0.56363	1.879000	0.54435	0.533000	0.62120	ATC		PASS	0.333	RNF17-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044217.1	NM_031994		52	122	52	122	---	---	---	---
BRCA2	675	broad.mit.edu	37	13	32907110	32907110	+	Nonsense_Mutation	SNP	C	C	T	rs80359285		TCGA-22-4595-01A-01D-1267-08	TCGA-22-4595-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7fcf5123-2d1b-4666-9d39-a1aaf63cf954	850e8a4d-e0f6-4bd6-80f5-1c20e2b0e4f9	g.chr13:32907110C>T	ENST00000380152.3	+	10	1728	c.1495C>T	c.(1495-1497)Cag>Tag	p.Q499*	BRCA2_ENST00000544455.1_Nonsense_Mutation_p.Q499*			P51587	BRCA2_HUMAN	breast cancer 2, early onset	499					brain development (GO:0007420)|cell aging (GO:0007569)|centrosome duplication (GO:0051298)|cytokinesis (GO:0000910)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|female gonad development (GO:0008585)|hemopoiesis (GO:0030097)|histone H3 acetylation (GO:0043966)|histone H4 acetylation (GO:0043967)|inner cell mass cell proliferation (GO:0001833)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|male meiosis I (GO:0007141)|negative regulation of mammary gland epithelial cell proliferation (GO:0033600)|nucleotide-excision repair (GO:0006289)|oocyte maturation (GO:0001556)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cytokinesis (GO:0032465)|replication fork protection (GO:0048478)|response to gamma radiation (GO:0010332)|response to UV-C (GO:0010225)|response to X-ray (GO:0010165)|spermatogenesis (GO:0007283)	BRCA2-MAGE-D1 complex (GO:0033593)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)|secretory granule (GO:0030141)	gamma-tubulin binding (GO:0043015)|H3 histone acetyltransferase activity (GO:0010484)|H4 histone acetyltransferase activity (GO:0010485)|protease binding (GO:0002020)|single-stranded DNA binding (GO:0003697)	p.Q499*(2)		NS(3)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(32)|liver(1)|lung(41)|oesophagus(5)|ovary(22)|pancreas(4)|prostate(3)|salivary_gland(1)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	183		Lung SC(185;0.0262)		all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704)		TTCTTCATTTCAGGGTATCAA	0.358			"""D, Mis, N, F, S"""		"""breast, ovarian, pancreatic"""	"""breast, ovarian, pancreatic, leukemia  (FANCB, FANCD1)"""		Homologous recombination	Pancreatic Cancer, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Prostate Cancer;Hereditary Breast-Ovarian Cancer, BRCA2 type;Fanconi Anemia type D1, bi-allelic BRCA2 mutations;Fanconi Anemia	TCGA Ovarian(8;0.087)																											Esophageal Squamous(138;838 1285 7957 30353 30468 36915 49332)	uc001uub.1			yes	Rec	yes	Hereditary breast/ovarian cancer	13	13q12	675	D|Mis|N|F|S	familial breast/ovarian cancer gene 2			"""L, E"""		breast|ovarian|pancreatic|leukemia  (FANCB|FANCD1)	breast|ovarian|pancreatic		2	Substitution - Nonsense(2)		lung(2)	ovary(20)|endometrium(8)|lung(7)|breast(7)|oesophagus(5)|large_intestine(4)|central_nervous_system(3)|pancreas(3)|skin(2)|upper_aerodigestive_tract(1)|cervix(1)|salivary_gland(1)|liver(1)|kidney(1)	64						c.(1495-1497)CAG>TAG	Direct_reversal_of_damage|Homologous_recombination	breast cancer 2, early onset							52.0	58.0	56.0					13																	32907110		2201	4297	6498	SO:0001587	stop_gained	675	Fanconi_Anemia_type_D1_bi-allelic_BRCA2_mutations|Fanconi_Anemia|Pancreatic_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_BRCA2_type|Hereditary_Prostate_Cancer|Li-Fraumeni_syndrome	Familial Cancer Database	incl.: Hereditary Pancreatic Adenocarcinoma, Insulin-Dependent Diabetes Mellitus - Exocrine Insufficiency - Familial Pancreatic Cancer, PNCA1;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;HPC; ;FANCD1;Pancytopenia Dysmelia, FA (several complementation groups)	cell cycle cytokinesis|centrosome duplication|double-strand break repair via homologous recombination|negative regulation of mammary gland epithelial cell proliferation|nucleotide-excision repair|positive regulation of transcription, DNA-dependent|regulation of S phase of mitotic cell cycle	BRCA2-MAGE-D1 complex|centrosome|nucleoplasm|stored secretory granule	gamma-tubulin binding|H3 histone acetyltransferase activity|H4 histone acetyltransferase activity|protease binding|single-stranded DNA binding	g.chr13:32907110C>T	U43746	CCDS9344.1	13q12-q13	2014-09-17	2003-10-14		ENSG00000139618	ENSG00000139618		"""Fanconi anemia, complementation groups"""	1101	protein-coding gene	gene with protein product	"""BRCA1/BRCA2-containing complex, subunit 2"""	600185	"""Fanconi anemia, complementation group D1"""	FANCD1, FACD, FANCD		8091231, 7581463, 15057823	Standard	NM_000059		Approved	FAD, FAD1, BRCC2	uc001uub.1	P51587	OTTHUMG00000017411	ENST00000380152.3:c.1495C>T	13.37:g.32907110C>T	ENSP00000369497:p.Gln499*	TCGA Ovarian(8;0.087)				BRCA2_uc001uua.1_Nonsense_Mutation_p.Q376*	p.Q499*	NM_000059	NP_000050	P51587	BRCA2_HUMAN		all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704)	10	1722	+		Lung SC(185;0.0262)	499					O00183|O15008|Q13879|Q5TBJ7	Nonsense_Mutation	SNP	ENST00000380152.3	37	c.1495C>T	CCDS9344.1	.	.	.	.	.	.	.	.	.	.	C	18.16	3.561684	0.65538	.	.	ENSG00000139618	ENST00000380152;ENST00000544455;ENST00000530893	.	.	.	5.39	3.55	0.40652	.	0.598240	0.16314	N	0.219843	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.09084	T	0.74	.	7.752	0.28903	0.0:0.5981:0.3169:0.085	.	.	.	.	X	499;499;497	.	ENSP00000369497:Q499X	Q	+	1	0	BRCA2	31805110	0.000000	0.05858	0.004000	0.12327	0.058000	0.15608	0.055000	0.14229	0.667000	0.31107	0.650000	0.86243	CAG		PASS	0.358	BRCA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046000.2	NM_000059		34	73	34	73	---	---	---	---
SERTM1	400120	broad.mit.edu	37	13	37269404	37269404	+	Silent	SNP	C	C	T			TCGA-22-4595-01A-01D-1267-08	TCGA-22-4595-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7fcf5123-2d1b-4666-9d39-a1aaf63cf954	850e8a4d-e0f6-4bd6-80f5-1c20e2b0e4f9	g.chr13:37269404C>T	ENST00000315190.3	+	2	635	c.189C>T	c.(187-189)ctC>ctT	p.L63L		NM_203451.2	NP_982276.2	A2A2V5	SRTM1_HUMAN	serine-rich and transmembrane domain containing 1	63						integral component of membrane (GO:0016021)		p.L63L(1)									TCATTGCCCTCCAGAGGCTCA	0.473																																						uc001uvt.3																			1	Substitution - coding silent(1)		lung(1)	skin(1)	1						c.(187-189)CTC>CTT		hypothetical protein LOC400120							191.0	178.0	182.0					13																	37269404		2203	4300	6503	SO:0001819	synonymous_variant	400120					integral to membrane		g.chr13:37269404C>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.189C>T	13.37:g.37269404C>T							p.L63L	NM_203451	NP_982276	A2A2V5	CM036_HUMAN			2	635	+			63			Helical; (Potential).		Q8N469	Silent	SNP	ENST00000315190.3	37	c.189C>T	CCDS9358.1																																																																																				PASS	0.473	SERTM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044518.2	NM_203451		105	262	105	262	---	---	---	---
LRCH1	23143	broad.mit.edu	37	13	47262104	47262104	+	Missense_Mutation	SNP	G	G	T			TCGA-22-4595-01A-01D-1267-08	TCGA-22-4595-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7fcf5123-2d1b-4666-9d39-a1aaf63cf954	850e8a4d-e0f6-4bd6-80f5-1c20e2b0e4f9	g.chr13:47262104G>T	ENST00000389798.3	+	6	1137	c.940G>T	c.(940-942)Gtg>Ttg	p.V314L	LRCH1_ENST00000389797.3_Missense_Mutation_p.V314L|LRCH1_ENST00000311191.6_Missense_Mutation_p.V314L	NM_015116.2	NP_055931	Q9Y2L9	LRCH1_HUMAN	leucine-rich repeats and calponin homology (CH) domain containing 1	314								p.V314L(2)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	26		all_lung(13;5.61e-07)|Lung NSC(96;0.000117)|Breast(56;0.000141)|Prostate(109;0.0029)|Lung SC(185;0.0367)|Myeloproliferative disorder(33;0.0505)|Hepatocellular(98;0.0556)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;0.000123)		ACACCAGCACGTGGAAGATGG	0.448																																						uc001vbj.2																			2	Substitution - Missense(2)		lung(2)	ovary(1)|central_nervous_system(1)	2						c.(940-942)GTG>TTG		leucine-rich repeats and calponin homology (CH)							78.0	76.0	77.0					13																	47262104		2203	4300	6503	SO:0001583	missense	23143							g.chr13:47262104G>T	AB023233	CCDS31972.1, CCDS53865.1, CCDS53866.1	13q14.11	2008-02-05	2004-05-27	2004-05-28	ENSG00000136141	ENSG00000136141			20309	protein-coding gene	gene with protein product		610368	"""calponin homology (CH) domain containing 1"""	CHDC1		10231032	Standard	NM_015116		Approved	KIAA1016	uc001vbk.3	Q9Y2L9	OTTHUMG00000016877	ENST00000389798.3:c.940G>T	13.37:g.47262104G>T	ENSP00000374448:p.Val314Leu					LRCH1_uc010acp.2_Missense_Mutation_p.V314L|LRCH1_uc001vbk.2_Missense_Mutation_p.V314L|LRCH1_uc001vbl.3_Missense_Mutation_p.V314L	p.V314L	NM_015116	NP_055931	Q9Y2L9	LRCH1_HUMAN	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;0.000123)	6	1176	+		all_lung(13;5.61e-07)|Lung NSC(96;0.000117)|Breast(56;0.000141)|Prostate(109;0.0029)|Lung SC(185;0.0367)|Myeloproliferative disorder(33;0.0505)|Hepatocellular(98;0.0556)	314					B7ZLL5|F8W6F0|Q17R43|Q2KHR1|Q5TBU9|Q7Z5F6|Q7Z5F7	Missense_Mutation	SNP	ENST00000389798.3	37	c.940G>T	CCDS31972.1	.	.	.	.	.	.	.	.	.	.	G	6.902	0.536036	0.13188	.	.	ENSG00000136141	ENST00000311191;ENST00000389798;ENST00000389797;ENST00000463929;ENST00000478412	T;T;T	0.49432	0.79;0.85;0.78	5.53	2.86	0.33363	.	0.132235	0.50627	D	0.000110	T	0.28928	0.0718	N	0.17838	0.53	0.30662	N	0.754281	P;B;P;B	0.38110	0.484;0.288;0.618;0.291	B;B;B;B	0.40506	0.178;0.107;0.331;0.08	T	0.32587	-0.9901	10	0.02654	T	1	-3.5632	10.6985	0.45913	0.2025:0.0:0.7975:0.0	.	314;314;314;314	Q17R43;Q9Y2L9-2;F8W6F0;Q9Y2L9	.;.;.;LRCH1_HUMAN	L	314;314;314;60;60	ENSP00000308493:V314L;ENSP00000374448:V314L;ENSP00000374447:V314L	ENSP00000308493:V314L	V	+	1	0	LRCH1	46160105	0.999000	0.42202	0.612000	0.29024	0.883000	0.51084	3.048000	0.49862	0.390000	0.25115	0.585000	0.79938	GTG		PASS	0.448	LRCH1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000044824.2	NM_015116		33	57	33	57	---	---	---	---
PCDH17	27253	broad.mit.edu	37	13	58207715	58207715	+	Missense_Mutation	SNP	C	C	A			TCGA-22-4595-01A-01D-1267-08	TCGA-22-4595-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7fcf5123-2d1b-4666-9d39-a1aaf63cf954	850e8a4d-e0f6-4bd6-80f5-1c20e2b0e4f9	g.chr13:58207715C>A	ENST00000377918.3	+	1	1061	c.1035C>A	c.(1033-1035)aaC>aaA	p.N345K		NM_001040429.2	NP_001035519.1	O14917	PCD17_HUMAN	protocadherin 17	345	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.N345K(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)		TCGACCGCAACGACAATGCGC	0.657																																					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.(1033-1035)AAC>AAA		protocadherin 17 precursor							74.0	72.0	73.0					13																	58207715		2203	4300	6503	SO:0001583	missense	27253				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding|protein binding	g.chr13:58207715C>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.1035C>A	13.37:g.58207715C>A	ENSP00000367151:p.Asn345Lys					PCDH17_uc010aec.1_Missense_Mutation_p.N345K	p.N345K	NM_001040429	NP_001035519	O14917	PCD17_HUMAN		GBM - Glioblastoma multiforme(99;1.06e-05)	1	1927	+		Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132)	345			Extracellular (Potential).|Cadherin 3.		A8K1R5|Q5VVW9|Q5VVX0	Missense_Mutation	SNP	ENST00000377918.3	37	c.1035C>A	CCDS31986.1	.	.	.	.	.	.	.	.	.	.	C	15.99	2.995218	0.54147	.	.	ENSG00000118946	ENST00000377918	T	0.70869	-0.52	5.57	3.84	0.44239	Cadherin (3);Cadherin conserved site (1);Cadherin-like (1);	0.000000	0.85682	D	0.000000	D	0.90082	0.6902	H	0.99609	4.655	0.50813	D	0.99989	D;D	0.89917	0.983;1.0	P;D	0.91635	0.87;0.999	D	0.89934	0.4068	9	.	.	.	.	8.7096	0.34376	0.0:0.6909:0.0:0.3091	.	345;345	O14917-2;O14917	.;PCD17_HUMAN	K	345	ENSP00000367151:N345K	.	N	+	3	2	PCDH17	57105716	0.984000	0.35163	1.000000	0.80357	0.997000	0.91878	0.207000	0.17395	0.730000	0.32425	0.650000	0.86243	AAC		PASS	0.657	PCDH17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045139.1	NM_001040429		38	69	38	69	---	---	---	---
COL4A1	1282	broad.mit.edu	37	13	110866278	110866278	+	Missense_Mutation	SNP	G	G	C			TCGA-22-4595-01A-01D-1267-08	TCGA-22-4595-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7fcf5123-2d1b-4666-9d39-a1aaf63cf954	850e8a4d-e0f6-4bd6-80f5-1c20e2b0e4f9	g.chr13:110866278G>C	ENST00000375820.4	-	3	350	c.229C>G	c.(229-231)Caa>Gaa	p.Q77E	COL4A1_ENST00000543140.1_Missense_Mutation_p.Q77E	NM_001845.4	NP_001836.2	P02462	CO4A1_HUMAN	collagen, type IV, alpha 1	77					axon guidance (GO:0007411)|basement membrane organization (GO:0071711)|blood vessel morphogenesis (GO:0048514)|brain development (GO:0007420)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|epithelial cell differentiation (GO:0030855)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|neuromuscular junction development (GO:0007528)|patterning of blood vessels (GO:0001569)|renal tubule morphogenesis (GO:0061333)|retinal blood vessel morphogenesis (GO:0061304)	basement membrane (GO:0005604)|collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)	extracellular matrix constituent conferring elasticity (GO:0030023)|extracellular matrix structural constituent (GO:0005201)|platelet-derived growth factor binding (GO:0048407)	p.Q77E(2)		breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	105	all_cancers(4;9.8e-13)|all_epithelial(4;9.66e-08)|all_lung(23;3.75e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00178)|all_neural(89;0.00459)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0604)	Breast(118;0.2)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.145)			CTTACCTTTTGTCCTGGTGGT	0.522																																						uc001vqw.3																			2	Substitution - Missense(2)		lung(2)	ovary(3)|lung(1)|central_nervous_system(1)|pancreas(1)	6						c.(229-231)CAA>GAA		alpha 1 type IV collagen preproprotein							215.0	187.0	196.0					13																	110866278		2203	4300	6503	SO:0001583	missense	1282				angiogenesis|axon guidance		extracellular matrix structural constituent|platelet-derived growth factor binding	g.chr13:110866278G>C	J04217	CCDS9511.1	13q34	2013-09-05			ENSG00000187498	ENSG00000187498		"""Collagens"""	2202	protein-coding gene	gene with protein product		120130				3691802	Standard	NM_001845		Approved		uc001vqw.4	P02462	OTTHUMG00000017342	ENST00000375820.4:c.229C>G	13.37:g.110866278G>C	ENSP00000364979:p.Gln77Glu					COL4A1_uc010agl.2_Missense_Mutation_p.Q77E	p.Q77E	NM_001845	NP_001836	P02462	CO4A1_HUMAN	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.145)		3	351	-	all_cancers(4;9.8e-13)|all_epithelial(4;9.66e-08)|all_lung(23;3.75e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00178)|all_neural(89;0.00459)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0604)	Breast(118;0.2)	77					A7E2W4|B1AM70|Q1P9S9|Q5VWF6|Q86X41|Q8NF88|Q9NYC5	Missense_Mutation	SNP	ENST00000375820.4	37	c.229C>G	CCDS9511.1	.	.	.	.	.	.	.	.	.	.	G	1.295	-0.606524	0.03717	.	.	ENSG00000187498	ENST00000375815;ENST00000375820;ENST00000397198;ENST00000543140	D;D	0.92805	-3.11;-3.11	5.02	1.61	0.23674	.	0.726968	0.13555	N	0.379229	T	0.75803	0.3899	N	0.04387	-0.21	0.80722	D	1	B;B	0.09022	0.002;0.001	B;B	0.08055	0.001;0.003	T	0.67597	-0.5630	10	0.02654	T	1	.	6.1685	0.20404	0.1424:0.0:0.5706:0.287	.	77;77	F5H5K0;P02462	.;CO4A1_HUMAN	E	77	ENSP00000364979:Q77E;ENSP00000443348:Q77E	ENSP00000364973:Q77E	Q	-	1	0	COL4A1	109664279	0.008000	0.16893	0.950000	0.38849	0.556000	0.35491	0.926000	0.28804	1.100000	0.41517	-0.183000	0.12914	CAA		PASS	0.522	COL4A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045759.3			5	585	5	585	---	---	---	---
OR4K2	390431	broad.mit.edu	37	14	20345323	20345323	+	Missense_Mutation	SNP	G	G	T			TCGA-22-4595-01A-01D-1267-08	TCGA-22-4595-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7fcf5123-2d1b-4666-9d39-a1aaf63cf954	850e8a4d-e0f6-4bd6-80f5-1c20e2b0e4f9	g.chr14:20345323G>T	ENST00000298642.2	+	1	933	c.897G>T	c.(895-897)agG>agT	p.R299S		NM_001005501.1	NP_001005501.1	Q8NGD2	OR4K2_HUMAN	olfactory receptor, family 4, subfamily K, member 2	299						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.R299S(1)		NS(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(16)|ovary(2)|skin(9)|upper_aerodigestive_tract(2)	43	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		TAGCCATGAGGAAACTGAAAA	0.343																																						uc001vwh.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(2)	4						c.(895-897)AGG>AGT		olfactory receptor, family 4, subfamily K,							73.0	77.0	76.0					14																	20345323		2202	4299	6501	SO:0001583	missense	390431				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:20345323G>T		CCDS32023.1	14q11.2	2013-09-23			ENSG00000165762	ENSG00000165762		"""GPCR / Class A : Olfactory receptors"""	14728	protein-coding gene	gene with protein product							Standard	NM_001005501		Approved		uc001vwh.1	Q8NGD2	OTTHUMG00000170624	ENST00000298642.2:c.897G>T	14.37:g.20345323G>T	ENSP00000298642:p.Arg299Ser						p.R299S	NM_001005501	NP_001005501	Q8NGD2	OR4K2_HUMAN	Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)	1	897	+	all_cancers(95;0.00108)		299			Cytoplasmic (Potential).		B2RNK8|Q6IFA5	Missense_Mutation	SNP	ENST00000298642.2	37	c.897G>T	CCDS32023.1	.	.	.	.	.	.	.	.	.	.	.	9.688	1.151007	0.21371	.	.	ENSG00000165762	ENST00000298642	T	0.39787	1.06	5.16	1.04	0.20106	.	0.116612	0.38217	N	0.001780	T	0.26011	0.0634	L	0.37630	1.12	0.30083	N	0.809022	B	0.02656	0.0	B	0.09377	0.004	T	0.10660	-1.0620	10	0.51188	T	0.08	.	2.9792	0.05948	0.2516:0.0:0.4027:0.3457	.	299	Q8NGD2	OR4K2_HUMAN	S	299	ENSP00000298642:R299S	ENSP00000298642:R299S	R	+	3	2	OR4K2	19415163	0.000000	0.05858	0.986000	0.45419	0.637000	0.38172	-1.810000	0.01729	0.716000	0.32124	0.591000	0.81541	AGG		PASS	0.343	OR4K2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409864.1			23	207	23	207	---	---	---	---
OR4K5	79317	broad.mit.edu	37	14	20389653	20389653	+	Silent	SNP	T	T	A			TCGA-22-4595-01A-01D-1267-08	TCGA-22-4595-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7fcf5123-2d1b-4666-9d39-a1aaf63cf954	850e8a4d-e0f6-4bd6-80f5-1c20e2b0e4f9	g.chr14:20389653T>A	ENST00000315915.4	+	1	913	c.888T>A	c.(886-888)gcT>gcA	p.A296A		NM_001005483.1	NP_001005483.1	Q8NGD3	OR4K5_HUMAN	olfactory receptor, family 4, subfamily K, member 5	296						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.A296A(1)		central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|liver(1)|lung(27)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	47	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		ATATGAAGGCTGCCGTAAGGA	0.388																																						uc010tkw.1																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|skin(1)	2						c.(886-888)GCT>GCA		olfactory receptor, family 4, subfamily K,							106.0	118.0	114.0					14																	20389653		2202	4299	6501	SO:0001819	synonymous_variant	79317				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:20389653T>A	BK004355	CCDS32024.1	14q11.22	2012-08-09				ENSG00000176281		"""GPCR / Class A : Olfactory receptors"""	14745	protein-coding gene	gene with protein product						14983052	Standard	NM_001005483		Approved		uc010tkw.2	Q8NGD3		ENST00000315915.4:c.888T>A	14.37:g.20389653T>A							p.A296A	NM_001005483	NP_001005483	Q8NGD3	OR4K5_HUMAN	Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)	1	888	+	all_cancers(95;0.00108)		296			Cytoplasmic (Potential).		Q6IFA7	Silent	SNP	ENST00000315915.4	37	c.888T>A	CCDS32024.1																																																																																				PASS	0.388	OR4K5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409867.1	NM_001005483		24	218	24	218	---	---	---	---
RNASE2	6036	broad.mit.edu	37	14	21424410	21424410	+	Missense_Mutation	SNP	C	C	G	rs372249512		TCGA-22-4595-01A-01D-1267-08	TCGA-22-4595-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7fcf5123-2d1b-4666-9d39-a1aaf63cf954	850e8a4d-e0f6-4bd6-80f5-1c20e2b0e4f9	g.chr14:21424410C>G	ENST00000304625.2	+	2	570	c.480C>G	c.(478-480)atC>atG	p.I160M		NM_002934.2	NP_002925.1	P10153	RNAS2_HUMAN	ribonuclease, RNase A family, 2 (liver, eosinophil-derived neurotoxin)	160					chemotaxis (GO:0006935)|RNA catabolic process (GO:0006401)|RNA phosphodiester bond hydrolysis (GO:0090501)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)	nucleic acid binding (GO:0003676)|pancreatic ribonuclease activity (GO:0004522)|ribonuclease activity (GO:0004540)	p.I160M(1)		breast(1)|endometrium(2)|large_intestine(2)|lung(10)|ovary(1)|stomach(1)	17	all_cancers(95;0.00381)		OV - Ovarian serous cystadenocarcinoma(11;6.3e-09)|Epithelial(56;1.42e-07)|all cancers(55;5.48e-07)	GBM - Glioblastoma multiforme(265;0.0187)		TGGATAGAATCATCTAAGCTC	0.458																																						uc010aif.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(478-480)ATC>ATG		ribonuclease, RNase A family, 2 (liver,							135.0	131.0	132.0					14																	21424410		2203	4300	6503	SO:0001583	missense	6036				chemotaxis|RNA catabolic process	extracellular region|lysosome	nucleic acid binding|pancreatic ribonuclease activity	g.chr14:21424410C>G	X55988	CCDS9561.1	14q11.2	2014-03-13			ENSG00000169385	ENSG00000169385		"""Ribonucleases, RNase A"""	10045	protein-coding gene	gene with protein product		131410		RNS2		1577491, 2734298	Standard	NM_002934		Approved	EDN	uc001vyl.1	P10153	OTTHUMG00000029607	ENST00000304625.2:c.480C>G	14.37:g.21424410C>G	ENSP00000303276:p.Ile160Met					RNASE2_uc001vyl.1_Missense_Mutation_p.I160M	p.I160M	NM_002934	NP_002925	P10153	RNAS2_HUMAN	OV - Ovarian serous cystadenocarcinoma(11;6.3e-09)|Epithelial(56;1.42e-07)|all cancers(55;5.48e-07)	GBM - Glioblastoma multiforme(265;0.0187)	2	549	+	all_cancers(95;0.00381)		160					Q52M39|Q9H2B7|Q9UCG7	Missense_Mutation	SNP	ENST00000304625.2	37	c.480C>G	CCDS9561.1	.	.	.	.	.	.	.	.	.	.	c	8.953	0.968610	0.18659	.	.	ENSG00000169385	ENST00000304625	T	0.14640	2.49	1.86	1.86	0.25419	Ribonuclease A, domain (4);	0.890844	0.09321	U	0.818203	T	0.21186	0.0510	M	0.73962	2.25	0.09310	N	1	P	0.34462	0.454	B	0.40506	0.331	T	0.25187	-1.0139	10	0.62326	D	0.03	.	7.2043	0.25899	0.0:1.0:0.0:0.0	.	160	P10153	RNAS2_HUMAN	M	160	ENSP00000303276:I160M	ENSP00000303276:I160M	I	+	3	3	RNASE2	20494250	0.000000	0.05858	0.001000	0.08648	0.014000	0.08584	-0.440000	0.06888	1.352000	0.45808	0.305000	0.20034	ATC		PASS	0.458	RNASE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073799.2			96	285	96	285	---	---	---	---
OR5AU1	390445	broad.mit.edu	37	14	21623614	21623615	+	Missense_Mutation	DNP	CC	CC	AA			TCGA-22-4595-01A-01D-1267-08	TCGA-22-4595-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7fcf5123-2d1b-4666-9d39-a1aaf63cf954	850e8a4d-e0f6-4bd6-80f5-1c20e2b0e4f9	g.chr14:21623614_21623615CC>AA	ENST00000304418.3	-	1	607_608	c.570_571GG>TT	c.(568-573)gaGGtc>gaTTtc	p.190_191EV>DF		NM_001004731.1	NP_001004731.1	Q8NGC0	O5AU1_HUMAN	olfactory receptor, family 5, subfamily AU, member 1	190						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.V191F(1)|p.E190D(1)|p.E190_V191>DF(1)		central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(12)|pancreas(1)	21	all_cancers(95;0.00238)		Epithelial(56;6.88e-07)|all cancers(55;6.02e-06)	GBM - Glioblastoma multiforme(265;0.0192)		GAGGCACAGACCTCAGGAGACA	0.505																																						uc010tlp.1																			3	Substitution - Missense(2)|Complex - compound substitution(1)		lung(3)	central_nervous_system(1)	1						c.(571-573)GTC>TTC|c.(568-570)GAG>GAT		olfactory receptor, family 5, subfamily AU,																																				SO:0001583	missense	390445				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:21623614C>A|g.chr14:21623615C>A	AL157687	CCDS32042.1	14q11.2	2013-09-23			ENSG00000169327	ENSG00000169327		"""GPCR / Class A : Olfactory receptors"""	15362	protein-coding gene	gene with protein product							Standard	NM_001004731		Approved		uc010tlp.2	Q8NGC0	OTTHUMG00000170753	ENST00000304418.3:c.570_571delinsAA	14.37:g.21623614_21623615delinsAA	ENSP00000302057:p.E190_V191delinsDF						p.V191F|p.E190D	NM_001004731	NP_001004731	Q8NGC0	O5AU1_HUMAN	Epithelial(56;6.88e-07)|all cancers(55;6.02e-06)	GBM - Glioblastoma multiforme(265;0.0192)	1	571|570	-	all_cancers(95;0.00238)		191|190			Cytoplasmic (Potential).		B2RP78|Q6IEU2|Q96R10	Missense_Mutation	SNP	ENST00000304418.3	37	c.571G>T|c.570G>T	CCDS32042.1																																																																																				PASS	0.505	OR5AU1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410213.1			16|15	59	15	59	---	---	---	---
OR10G2	26534	broad.mit.edu	37	14	22102181	22102181	+	Missense_Mutation	SNP	A	A	G			TCGA-22-4595-01A-01D-1267-08	TCGA-22-4595-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7fcf5123-2d1b-4666-9d39-a1aaf63cf954	850e8a4d-e0f6-4bd6-80f5-1c20e2b0e4f9	g.chr14:22102181A>G	ENST00000542433.1	-	1	915	c.818T>C	c.(817-819)cTg>cCg	p.L273P		NM_001005466.1	NP_001005466.1	Q8NGC3	O10G2_HUMAN	olfactory receptor, family 10, subfamily G, member 2	273						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.L273P(1)		cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(12)|prostate(1)|skin(2)|stomach(2)	22	all_cancers(95;0.00113)	Acute lymphoblastic leukemia(2;0.0279)		GBM - Glioblastoma multiforme(265;0.0142)		TGCCCCATCCAGGGGGTCTTT	0.542																																						uc010tmc.1																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(817-819)CTG>CCG		olfactory receptor, family 10, subfamily G,							47.0	51.0	50.0					14																	22102181		2203	4300	6503	SO:0001583	missense	26534				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:22102181A>G		CCDS32047.1	14q11.2	2013-09-24			ENSG00000255582	ENSG00000255582		"""GPCR / Class A : Olfactory receptors"""	8170	protein-coding gene	gene with protein product						8188290	Standard	NM_001005466		Approved		uc010tmc.2	Q8NGC3	OTTHUMG00000168890	ENST00000542433.1:c.818T>C	14.37:g.22102181A>G	ENSP00000445383:p.Leu273Pro						p.L273P	NM_001005466	NP_001005466	Q8NGC3	O10G2_HUMAN		GBM - Glioblastoma multiforme(265;0.0142)	1	818	-	all_cancers(95;0.00113)	Acute lymphoblastic leukemia(2;0.0279)	273			Extracellular (Potential).		B2RPD0	Missense_Mutation	SNP	ENST00000542433.1	37	c.818T>C	CCDS32047.1	.	.	.	.	.	.	.	.	.	.	A	11.63	1.697366	0.30142	.	.	ENSG00000255582	ENST00000542433	T	0.00241	8.46	3.92	3.92	0.45320	GPCR, rhodopsin-like superfamily (1);	0.251232	0.20613	N	0.088934	T	0.00412	0.0013	M	0.65320	2	0.31773	N	0.631814	D	0.64830	0.994	D	0.71656	0.974	T	0.53913	-0.8371	10	0.72032	D	0.01	-2.4888	9.0789	0.36538	1.0:0.0:0.0:0.0	.	273	Q8NGC3	O10G2_HUMAN	P	273	ENSP00000445383:L273P	ENSP00000445383:L273P	L	-	2	0	OR10G2	21172021	0.000000	0.05858	0.999000	0.59377	0.650000	0.38633	0.142000	0.16096	1.648000	0.50643	0.455000	0.32223	CTG		PASS	0.542	OR10G2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401525.1			18	67	18	67	---	---	---	---
KLHL28	54813	broad.mit.edu	37	14	45403624	45403624	+	Missense_Mutation	SNP	C	C	G			TCGA-22-4595-01A-01D-1267-08	TCGA-22-4595-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7fcf5123-2d1b-4666-9d39-a1aaf63cf954	850e8a4d-e0f6-4bd6-80f5-1c20e2b0e4f9	g.chr14:45403624C>G	ENST00000396128.4	-	3	1156	c.1037G>C	c.(1036-1038)gGc>gCc	p.G346A	KLHL28_ENST00000355081.2_Missense_Mutation_p.G360A	NM_017658.3	NP_060128.2	Q9NXS3	KLH28_HUMAN	kelch-like family member 28	346								p.G346A(1)		breast(2)|endometrium(3)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22						GATAGTGACGCCAGGACGCAC	0.393																																						uc001wvq.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1036-1038)GGC>GCC		BTB (POZ) domain containing 5							110.0	103.0	105.0					14																	45403624		2203	4300	6503	SO:0001583	missense	54813							g.chr14:45403624C>G	AK000088	CCDS9680.1	14q21.1	2013-02-22	2013-02-22	2007-01-09	ENSG00000179454	ENSG00000179454		"""Kelch-like"", ""BTB/POZ domain containing"""	19741	protein-coding gene	gene with protein product			"""BTB (POZ) domain containing 5"", ""kelch-like 28 (Drosophila)"""	BTBD5			Standard	NM_017658		Approved	FLJ20081	uc001wvr.3	Q9NXS3	OTTHUMG00000140263	ENST00000396128.4:c.1037G>C	14.37:g.45403624C>G	ENSP00000379434:p.Gly346Ala					KLHL28_uc001wvr.2_Missense_Mutation_p.G346A	p.G346A	NM_017658	NP_060128	Q9NXS3	KLH28_HUMAN			3	1283	-			346			Kelch 2.		Q0VAL5	Missense_Mutation	SNP	ENST00000396128.4	37	c.1037G>C	CCDS9680.1	.	.	.	.	.	.	.	.	.	.	C	15.15	2.746859	0.49257	.	.	ENSG00000179454	ENST00000396128;ENST00000355081	T;T	0.69806	-0.43;-0.41	5.38	3.52	0.40303	Kelch-type beta propeller (1);	0.156902	0.56097	D	0.000023	T	0.76926	0.4056	M	0.62209	1.925	0.58432	D	0.999993	D	0.89917	1.0	D	0.75020	0.985	T	0.77330	-0.2628	10	0.87932	D	0	.	10.7069	0.45960	0.0:0.7948:0.1327:0.0725	.	346	Q9NXS3	KLH28_HUMAN	A	346;360	ENSP00000379434:G346A;ENSP00000347193:G360A	ENSP00000347193:G360A	G	-	2	0	KLHL28	44473374	1.000000	0.71417	0.563000	0.28383	0.938000	0.57974	3.483000	0.53194	0.724000	0.32296	0.557000	0.71058	GGC		PASS	0.393	KLHL28-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276790.3			42	143	42	143	---	---	---	---
NEMF	9147	broad.mit.edu	37	14	50295371	50295371	+	Missense_Mutation	SNP	C	C	T			TCGA-22-4595-01A-01D-1267-08	TCGA-22-4595-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7fcf5123-2d1b-4666-9d39-a1aaf63cf954	850e8a4d-e0f6-4bd6-80f5-1c20e2b0e4f9	g.chr14:50295371C>T	ENST00000298310.5	-	14	1836	c.1387G>A	c.(1387-1389)Gtt>Att	p.V463I	NEMF_ENST00000545773.1_Missense_Mutation_p.V421I|NEMF_ENST00000546046.1_Missense_Mutation_p.V463I|NEMF_ENST00000556925.1_5'UTR			O60524	NEMF_HUMAN	nuclear export mediator factor	463					nuclear export (GO:0051168)	nucleus (GO:0005634)		p.V463I(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(13)|liver(1)|lung(9)|prostate(1)|skin(1)|urinary_tract(1)	36						CTGAGATCAACATCTACAAGT	0.333																																						uc001wxc.2																			1	Substitution - Missense(1)		lung(1)		0						c.(1387-1389)GTT>ATT		serologically defined colon cancer antigen 1							108.0	102.0	104.0					14																	50295371		2203	4300	6503	SO:0001583	missense	9147					cytoplasm|nucleus		g.chr14:50295371C>T	AF039687	CCDS9694.1	14q21.3	2012-11-19	2011-01-31	2011-01-31	ENSG00000165525	ENSG00000165525			10663	protein-coding gene	gene with protein product		608378	"""serologically defined colon cancer antigen 1"""	SDCCAG1		9610721, 10575219	Standard	XR_429334		Approved	NY-CO-1, FLJ10051	uc001wxc.3	O60524	OTTHUMG00000170857	ENST00000298310.5:c.1387G>A	14.37:g.50295371C>T	ENSP00000298310:p.Val463Ile					SDCCAG1_uc010anj.1_Missense_Mutation_p.V463I|SDCCAG1_uc010tqi.1_Missense_Mutation_p.V463I|SDCCAG1_uc001wxe.2_Missense_Mutation_p.V421I|SDCCAG1_uc001wxd.1_5'UTR|SDCCAG1_uc010anq.1_Missense_Mutation_p.V234I	p.V463I	NM_004713	NP_004704	O60524	NEMF_HUMAN		OV - Ovarian serous cystadenocarcinoma(311;5.99e-34)	14	1455	-	all_epithelial(31;0.000822)|Breast(41;0.0117)	all_lung(585;1.02e-05)	463					A0JLQ3|B3KSK1|B4DDL3|B4DHA9|B4E3F3|Q32Q66|Q8WW70|Q9NWG1	Missense_Mutation	SNP	ENST00000298310.5	37	c.1387G>A	CCDS9694.1	.	.	.	.	.	.	.	.	.	.	C	13.64	2.297401	0.40694	.	.	ENSG00000165525	ENST00000298310;ENST00000545773;ENST00000546046;ENST00000534912;ENST00000555970	T;T;T;T	0.43688	0.94;0.94;0.94;0.94	5.26	5.26	0.73747	Fibronectin-binding A, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.30166	0.0756	N	0.13098	0.295	0.80722	D	1	B;P;B;P;B	0.44521	0.389;0.47;0.389;0.837;0.299	B;B;B;P;B	0.47162	0.245;0.245;0.421;0.54;0.359	T	0.07481	-1.0770	10	0.02654	T	1	-15.2785	15.2695	0.73689	0.0:0.8595:0.1405:0.0	.	463;234;438;421;463	O60524-3;F5H639;O60524-5;O60524-4;O60524	.;.;.;.;NEMF_HUMAN	I	463;421;463;234;421	ENSP00000298310:V463I;ENSP00000438309:V421I;ENSP00000441016:V463I;ENSP00000452540:V421I	ENSP00000298310:V463I	V	-	1	0	NEMF	49365121	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	5.169000	0.64984	2.471000	0.83476	0.591000	0.81541	GTT		PASS	0.333	NEMF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410798.1	NM_004713		31	191	31	191	---	---	---	---
KCNH5	27133	broad.mit.edu	37	14	63174853	63174853	+	Silent	SNP	A	A	G			TCGA-22-4595-01A-01D-1267-08	TCGA-22-4595-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7fcf5123-2d1b-4666-9d39-a1aaf63cf954	850e8a4d-e0f6-4bd6-80f5-1c20e2b0e4f9	g.chr14:63174853A>G	ENST00000322893.7	-	11	2608	c.2340T>C	c.(2338-2340)gaT>gaC	p.D780D	KCNH5_ENST00000420622.2_3'UTR	NM_139318.3	NP_647479.2	Q8NCM2	KCNH5_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 5	780					potassium ion transmembrane transport (GO:0071805)|regulation of G2/M transition of mitotic cell cycle (GO:0010389)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|plasma membrane (GO:0005886)	phosphorelay sensor kinase activity (GO:0000155)|voltage-gated potassium channel activity (GO:0005249)	p.D780D(1)		NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(33)|ovary(5)|prostate(2)|skin(17)|upper_aerodigestive_tract(4)|urinary_tract(2)	99				OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168)		GTTCCATGGCATCACGGTTGT	0.493																																						uc001xfx.2																			1	Substitution - coding silent(1)		lung(1)	ovary(4)|skin(4)|central_nervous_system(1)	9						c.(2338-2340)GAT>GAC		potassium voltage-gated channel, subfamily H,							114.0	108.0	110.0					14																	63174853		2203	4300	6503	SO:0001819	synonymous_variant	27133				regulation of transcription, DNA-dependent	integral to membrane	calmodulin binding|two-component sensor activity|voltage-gated potassium channel activity	g.chr14:63174853A>G	U69185	CCDS9756.1, CCDS45122.1	14q23.1	2012-07-05			ENSG00000140015	ENSG00000140015		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6254	protein-coding gene	gene with protein product		605716				9738473, 16382104	Standard	NM_139318		Approved	Kv10.2, H-EAG2, eag2	uc001xfx.3	Q8NCM2	OTTHUMG00000029041	ENST00000322893.7:c.2340T>C	14.37:g.63174853A>G						KCNH5_uc001xfy.2_3'UTR	p.D780D	NM_139318	NP_647479	Q8NCM2	KCNH5_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168)	11	2391	-			780			Cytoplasmic (Potential).		C9JP98	Silent	SNP	ENST00000322893.7	37	c.2340T>C	CCDS9756.1																																																																																				PASS	0.493	KCNH5-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411747.1	NM_139318		51	98	51	98	---	---	---	---
POMT2	29954	broad.mit.edu	37	14	77746415	77746415	+	Silent	SNP	G	G	A			TCGA-22-4595-01A-01D-1267-08	TCGA-22-4595-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7fcf5123-2d1b-4666-9d39-a1aaf63cf954	850e8a4d-e0f6-4bd6-80f5-1c20e2b0e4f9	g.chr14:77746415G>A	ENST00000261534.4	-	17	1936	c.1734C>T	c.(1732-1734)cgC>cgT	p.R578R		NM_013382.5	NP_037514.2	Q9UKY4	POMT2_HUMAN	protein-O-mannosyltransferase 2	578						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	dolichyl-phosphate-mannose-protein mannosyltransferase activity (GO:0004169)|metal ion binding (GO:0046872)	p.R578R(1)		breast(2)|endometrium(2)|large_intestine(1)|liver(1)|lung(5)|ovary(1)|prostate(1)|skin(1)	14			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0292)		CCCCTGAGAAGCGTAGGCCCT	0.597																																						uc001xti.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(1732-1734)CGC>CGT		protein-O-mannosyltransferase 2							120.0	100.0	107.0					14																	77746415		2203	4300	6503	SO:0001819	synonymous_variant	29954				protein O-linked glycosylation	endoplasmic reticulum membrane|integral to membrane	dolichyl-phosphate-mannose-protein mannosyltransferase activity|metal ion binding	g.chr14:77746415G>A	AF105020	CCDS9857.1	14q24	2014-09-17			ENSG00000009830	ENSG00000009830	2.4.1.109	"""Dolichyl D-mannosyl phosphate dependent mannosyltransferases"""	19743	protein-coding gene	gene with protein product		607439				11162531, 12460945	Standard	NM_013382		Approved	LGMD2N	uc001xti.2	Q9UKY4	OTTHUMG00000171556	ENST00000261534.4:c.1734C>T	14.37:g.77746415G>A						POMT2_uc001xth.1_Silent_p.R276R	p.R578R	NM_013382	NP_037514	Q9UKY4	POMT2_HUMAN	Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0292)	17	1935	-			578					Q9NSG6|Q9P1W0|Q9P1W2	Silent	SNP	ENST00000261534.4	37	c.1734C>T	CCDS9857.1	.	.	.	.	.	.	.	.	.	.	G	9.030	0.987111	0.18889	.	.	ENSG00000009830	ENST00000556171	.	.	.	5.67	1.31	0.21738	.	.	.	.	.	T	0.53948	0.1828	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.44003	-0.9356	4	.	.	.	-12.6745	6.7238	0.23345	0.6352:0.0:0.3648:0.0	.	.	.	.	V	46	.	.	A	-	2	0	POMT2	76816168	1.000000	0.71417	1.000000	0.80357	0.727000	0.41649	2.645000	0.46621	0.355000	0.24131	-0.251000	0.11542	GCT		PASS	0.597	POMT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414155.1	NM_013382		46	64	46	64	---	---	---	---
VIPAS39	63894	broad.mit.edu	37	14	77894748	77894748	+	Missense_Mutation	SNP	C	C	G			TCGA-22-4595-01A-01D-1267-08	TCGA-22-4595-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7fcf5123-2d1b-4666-9d39-a1aaf63cf954	850e8a4d-e0f6-4bd6-80f5-1c20e2b0e4f9	g.chr14:77894748C>G	ENST00000553888.1	-	19	1936	c.1426G>C	c.(1426-1428)Gag>Cag	p.E476Q	VIPAS39_ENST00000557658.1_Missense_Mutation_p.E476Q|VIPAS39_ENST00000556412.1_Missense_Mutation_p.E502Q|VIPAS39_ENST00000327028.4_Missense_Mutation_p.E463Q|VIPAS39_ENST00000343765.2_Missense_Mutation_p.E476Q|VIPAS39_ENST00000448935.2_Missense_Mutation_p.E427Q	NM_001193314.1|NM_001193317.1|NM_022067.3	NP_001180243.1|NP_001180246.1|NP_071350.2	Q9H9C1	SPE39_HUMAN	VPS33B interacting protein, apical-basolateral polarity regulator, spe-39 homolog	476					cell differentiation (GO:0030154)|endosome to lysosome transport (GO:0008333)|intracellular protein transport (GO:0006886)|regulation of transcription, DNA-templated (GO:0006355)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)|late endosome (GO:0005770)|recycling endosome (GO:0055037)		p.E476Q(1)									TTCTCCTCCTCTGCTGATCCT	0.483																																						uc001xtt.1																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1						c.(1426-1428)GAG>CAG		hypothetical protein LOC63894							179.0	111.0	134.0					14																	77894748		2203	4300	6503	SO:0001583	missense	63894				endosome to lysosome transport|intracellular protein transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent	early endosome|late endosome|recycling endosome	protein binding	g.chr14:77894748C>G	AK022925	CCDS9862.1, CCDS53905.1	14q24.3-q31	2013-08-14	2012-07-24	2012-07-24	ENSG00000151445	ENSG00000151445			20347	protein-coding gene	gene with protein product	"""VPS33B interacting protein, apical-basolateral polarity regulator"""	613401	"""chromosome 14 open reading frame 133"""	C14orf133		20190753, 19109425, 22753090, 23002115, 23918659	Standard	NM_022067		Approved	VIPAR, VPS16B, SPE-39, SPE39, hSPE-39	uc001xtu.2	Q9H9C1		ENST00000553888.1:c.1426G>C	14.37:g.77894748C>G	ENSP00000452181:p.Glu476Gln					VIPAR_uc001xtu.1_Missense_Mutation_p.E476Q|VIPAR_uc010tvj.1_Missense_Mutation_p.E427Q|VIPAR_uc001xtv.1_Missense_Mutation_p.E476Q	p.E476Q	NM_022067	NP_071350	Q9H9C1	VIPAR_HUMAN			20	1764	-			476					B4DPI6|O95434|Q9H7E1|Q9H9I9	Missense_Mutation	SNP	ENST00000553888.1	37	c.1426G>C	CCDS9862.1	.	.	.	.	.	.	.	.	.	.	C	17.31	3.357554	0.61293	.	.	ENSG00000151445	ENST00000343765;ENST00000553888;ENST00000327028;ENST00000557658;ENST00000448935;ENST00000556412	T;T;T;T;T;T	0.80480	-1.36;-1.36;-1.35;-1.36;-1.34;-1.38	5.43	5.43	0.79202	.	0.213777	0.47852	D	0.000205	T	0.76449	0.3989	L	0.47016	1.485	0.80722	D	1	B;B	0.31256	0.164;0.316	B;B	0.28553	0.062;0.091	T	0.74636	-0.3599	10	0.42905	T	0.14	-29.4801	18.3563	0.90358	0.0:1.0:0.0:0.0	.	427;476	B4DPI6;Q9H9C1	.;VIPAR_HUMAN	Q	476;476;463;476;427;502	ENSP00000339122:E476Q;ENSP00000452181:E476Q;ENSP00000313098:E463Q;ENSP00000452191:E476Q;ENSP00000404815:E427Q;ENSP00000451857:E502Q	ENSP00000313098:E463Q	E	-	1	0	VIPAR	76964501	1.000000	0.71417	0.994000	0.49952	0.919000	0.55068	5.428000	0.66489	2.700000	0.92200	0.655000	0.94253	GAG		PASS	0.483	VIPAS39-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414008.1	NM_022067		59	57	59	57	---	---	---	---
EIF5	1983	broad.mit.edu	37	14	103802424	103802424	+	Missense_Mutation	SNP	G	G	A			TCGA-22-4595-01A-01D-1267-08	TCGA-22-4595-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7fcf5123-2d1b-4666-9d39-a1aaf63cf954	850e8a4d-e0f6-4bd6-80f5-1c20e2b0e4f9	g.chr14:103802424G>A	ENST00000216554.3	+	4	800	c.124G>A	c.(124-126)Gtt>Att	p.V42I	EIF5_ENST00000560200.1_Intron|EIF5_ENST00000392715.2_Missense_Mutation_p.V42I|EIF5_ENST00000558506.1_Missense_Mutation_p.V42I|SNORA28_ENST00000606769.1_RNA	NM_001969.4	NP_001960.2	P55010	IF5_HUMAN	eukaryotic translation initiation factor 5	42					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|GTP catabolic process (GO:0006184)|regulation of translational initiation (GO:0006446)|translation (GO:0006412)|translational initiation (GO:0006413)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)|translation factor activity, nucleic acid binding (GO:0008135)|translation initiation factor activity (GO:0003743)	p.V42I(1)		breast(3)|kidney(2)|large_intestine(3)|lung(5)|pancreas(2)|skin(2)|upper_aerodigestive_tract(1)	18		Melanoma(154;0.155)	Epithelial(46;0.182)			CATGGTTGACGTTGCAAAGGC	0.413																																						uc001ymq.2																			1	Substitution - Missense(1)		lung(1)	pancreas(1)|breast(1)|skin(1)	3						c.(124-126)GTT>ATT		eukaryotic translation initiation factor 5							67.0	60.0	62.0					14																	103802424		2203	4300	6503	SO:0001583	missense	1983				regulation of translational initiation|RNA metabolic process	cytosol	GTP binding|GTPase activity|translation initiation factor activity	g.chr14:103802424G>A	U49436	CCDS9980.1	14q32.32	2006-05-11				ENSG00000100664			3299	protein-coding gene	gene with protein product		601710				8663286	Standard	NM_001969		Approved		uc001ymq.4	P55010		ENST00000216554.3:c.124G>A	14.37:g.103802424G>A	ENSP00000216554:p.Val42Ile					EIF5_uc001ymr.2_Missense_Mutation_p.V42I|EIF5_uc001yms.2_Missense_Mutation_p.V42I|EIF5_uc001ymt.2_Missense_Mutation_p.V42I|EIF5_uc001ymu.2_Missense_Mutation_p.V42I|SNORA28_uc001ymv.1_5'Flank	p.V42I	NM_001969	NP_001960	P55010	IF5_HUMAN	Epithelial(46;0.182)		4	646	+		Melanoma(154;0.155)	42					Q53XB3|Q9H5N2|Q9UG48	Missense_Mutation	SNP	ENST00000216554.3	37	c.124G>A	CCDS9980.1	.	.	.	.	.	.	.	.	.	.	.	16.04	3.009691	0.54361	.	.	ENSG00000100664	ENST00000216554;ENST00000392715	T;T	0.36878	1.23;1.23	6.0	5.11	0.69529	Translation initiation factor IF2/IF5, N-terminal (2);Translation initiation factor IF2/IF5 (2);	0.000000	0.85682	D	0.000000	T	0.25344	0.0616	N	0.17312	0.475	0.80722	D	1	B	0.12013	0.005	B	0.17098	0.017	T	0.03344	-1.1046	10	0.29301	T	0.29	-2.1676	15.1793	0.72941	0.0673:0.0:0.9327:0.0	.	42	P55010	IF5_HUMAN	I	42	ENSP00000216554:V42I;ENSP00000376477:V42I	ENSP00000216554:V42I	V	+	1	0	EIF5	102872177	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.605000	0.98321	1.553000	0.49476	0.555000	0.69702	GTT		PASS	0.413	EIF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415329.2	NM_001969		26	162	26	162	---	---	---	---
AHNAK2	113146	broad.mit.edu	37	14	105406083	105406083	+	Silent	SNP	G	G	A			TCGA-22-4595-01A-01D-1267-08	TCGA-22-4595-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7fcf5123-2d1b-4666-9d39-a1aaf63cf954	850e8a4d-e0f6-4bd6-80f5-1c20e2b0e4f9	g.chr14:105406083G>A	ENST00000333244.5	-	7	15824	c.15705C>T	c.(15703-15705)ttC>ttT	p.F5235F	AHNAK2_ENST00000557457.1_Silent_p.F233F	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	5235						costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)		p.F205F(1)|p.F5235F(1)		cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			CAGAAACAAGGAACTCTTTGA	0.542																																						uc010axc.1																			2	Substitution - coding silent(2)		lung(2)	ovary(1)	1						c.(15703-15705)TTC>TTT		AHNAK nucleoprotein 2							260.0	282.0	275.0					14																	105406083		2064	4199	6263	SO:0001819	synonymous_variant	113146					nucleus		g.chr14:105406083G>A	AB095939	CCDS45177.1	14q32.33	2010-04-01	2007-03-26	2007-03-26	ENSG00000185567	ENSG00000185567			20125	protein-coding gene	gene with protein product		608570	"""chromosome 14 open reading frame 78"""	C14orf78		15007166	Standard	NM_138420		Approved		uc010axc.1	Q8IVF2		ENST00000333244.5:c.15705C>T	14.37:g.105406083G>A						AHNAK2_uc001ypx.2_Silent_p.F5135F	p.F5235F	NM_138420	NP_612429	Q8IVF2	AHNK2_HUMAN	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)		7	15825	-		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	5235					Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Silent	SNP	ENST00000333244.5	37	c.15705C>T	CCDS45177.1																																																																																				PASS	0.542	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410300.1	NM_138420		149	676	149	676	---	---	---	---
AHNAK2	113146	broad.mit.edu	37	14	105420878	105420878	+	Missense_Mutation	SNP	G	G	T			TCGA-22-4595-01A-01D-1267-08	TCGA-22-4595-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7fcf5123-2d1b-4666-9d39-a1aaf63cf954	850e8a4d-e0f6-4bd6-80f5-1c20e2b0e4f9	g.chr14:105420878G>T	ENST00000333244.5	-	7	1029	c.910C>A	c.(910-912)Ctc>Atc	p.L304I	AHNAK2_ENST00000557457.1_5'Flank	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	304						costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)		p.L304I(1)		cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			TCCACCGTGAGCTGGGCCTCT	0.652																																						uc010axc.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(910-912)CTC>ATC		AHNAK nucleoprotein 2							30.0	33.0	32.0					14																	105420878		2131	4245	6376	SO:0001583	missense	113146					nucleus		g.chr14:105420878G>T	AB095939	CCDS45177.1	14q32.33	2010-04-01	2007-03-26	2007-03-26	ENSG00000185567	ENSG00000185567			20125	protein-coding gene	gene with protein product		608570	"""chromosome 14 open reading frame 78"""	C14orf78		15007166	Standard	NM_138420		Approved		uc010axc.1	Q8IVF2		ENST00000333244.5:c.910C>A	14.37:g.105420878G>T	ENSP00000353114:p.Leu304Ile					AHNAK2_uc001ypx.2_Missense_Mutation_p.L204I	p.L304I	NM_138420	NP_612429	Q8IVF2	AHNK2_HUMAN	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)		7	1030	-		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	304					Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Missense_Mutation	SNP	ENST00000333244.5	37	c.910C>A	CCDS45177.1	.	.	.	.	.	.	.	.	.	.	g	17.88	3.496303	0.64186	.	.	ENSG00000185567	ENST00000333244	T	0.02763	4.17	4.87	-5.93	0.02254	.	2.205970	0.03813	U	0.266218	T	0.02230	0.0069	L	0.40543	1.245	0.09310	N	1	B	0.25312	0.123	B	0.22152	0.038	T	0.45440	-0.9261	10	0.20046	T	0.44	.	1.1649	0.01813	0.4134:0.1113:0.1404:0.3349	.	304	Q8IVF2	AHNK2_HUMAN	I	304	ENSP00000353114:L304I	ENSP00000353114:L304I	L	-	1	0	AHNAK2	104491923	0.000000	0.05858	0.001000	0.08648	0.384000	0.30261	-0.242000	0.08928	-0.771000	0.04608	0.650000	0.86243	CTC		PASS	0.652	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410300.1	NM_138420		9	61	9	61	---	---	---	---
IGHD1-26	28506	broad.mit.edu	37	14	106347400	106347400	+	RNA	SNP	G	G	T	rs565890755	byFrequency	TCGA-22-4595-01A-01D-1267-08	TCGA-22-4595-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7fcf5123-2d1b-4666-9d39-a1aaf63cf954	850e8a4d-e0f6-4bd6-80f5-1c20e2b0e4f9	g.chr14:106347400G>T	ENST00000390567.1	-	0	0				IGHD6-25_ENST00000452198.1_RNA|IGHD5-24_ENST00000390569.1_RNA					immunoglobulin heavy diversity 1-26																		CATTGTGGTAGCCGCTGCTAT	0.567																																						uc010tyt.1																			0					0								Parts of antibodies, mostly variable regions.							90.0	100.0	97.0					14																	106347400		2009	4043	6052			8755							g.chr14:106347400G>T	X97051		14q32.33	2012-02-08			ENSG00000211907	ENSG00000211907		"""Immunoglobulins / IGH locus"""	5485	other	immunoglobulin gene							Standard	NG_001019		Approved	IGHD126			OTTHUMG00000152429		14.37:g.106347400G>T														3213		-									RNA	SNP	ENST00000390567.1	37	c.50474C>A																																																																																					PASS	0.567	IGHD1-26-001	KNOWN	mRNA_start_NF|mRNA_end_NF|cds_start_NF|cds_end_NF|basic|appris_principal	IG_D_gene	IG_D_gene	OTTHUMT00000326207.1	NG_001019		5	96	5	96	---	---	---	---
IGHV3-21	28444	broad.mit.edu	37	14	106691831	106691831	+	RNA	SNP	C	C	T	rs562425365		TCGA-22-4595-01A-01D-1267-08	TCGA-22-4595-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7fcf5123-2d1b-4666-9d39-a1aaf63cf954	850e8a4d-e0f6-4bd6-80f5-1c20e2b0e4f9	g.chr14:106691831C>T	ENST00000390607.2	-	0	271									immunoglobulin heavy variable 3-21																		GAGACCCACTCCAGCCCCTTC	0.537																																						uc010tyt.1																			0					0								Parts of antibodies, mostly variable regions.							149.0	135.0	139.0					14																	106691831		1908	4120	6028			8755							g.chr14:106691831C>T	Z14073		14q32.33	2012-02-08			ENSG00000211947	ENSG00000211947		"""Immunoglobulins / IGH locus"""	5586	other	immunoglobulin gene							Standard	NG_001019		Approved				OTTHUMG00000152279		14.37:g.106691831C>T														754		-									RNA	SNP	ENST00000390607.2	37	c.20532G>A																																																																																					PASS	0.537	IGHV3-21-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IG_V_gene	OTTHUMT00000325667.1	NG_001019		100	331	100	331	---	---	---	---
IGHV3-21	28444	broad.mit.edu	37	14	106691966	106691966	+	RNA	SNP	C	C	A	rs201752172	byFrequency	TCGA-22-4595-01A-01D-1267-08	TCGA-22-4595-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7fcf5123-2d1b-4666-9d39-a1aaf63cf954	850e8a4d-e0f6-4bd6-80f5-1c20e2b0e4f9	g.chr14:106691966C>A	ENST00000390607.2	-	0	136									immunoglobulin heavy variable 3-21																		AGCTGCACCTCACACTGGACA	0.522																																						uc010tyt.1																			0					0								Parts of antibodies, mostly variable regions.							123.0	114.0	117.0					14																	106691966		1903	4134	6037			8755							g.chr14:106691966C>A	Z14073		14q32.33	2012-02-08			ENSG00000211947	ENSG00000211947		"""Immunoglobulins / IGH locus"""	5586	other	immunoglobulin gene							Standard	NG_001019		Approved				OTTHUMG00000152279		14.37:g.106691966C>A														754		-									RNA	SNP	ENST00000390607.2	37	c.20397G>T																																																																																					PASS	0.522	IGHV3-21-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IG_V_gene	OTTHUMT00000325667.1	NG_001019		49	225	49	225	---	---	---	---
IGHV3-21	28444	broad.mit.edu	37	14	106691978	106691978	+	RNA	SNP	C	C	G	rs540496532		TCGA-22-4595-01A-01D-1267-08	TCGA-22-4595-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7fcf5123-2d1b-4666-9d39-a1aaf63cf954	850e8a4d-e0f6-4bd6-80f5-1c20e2b0e4f9	g.chr14:106691978C>G	ENST00000390607.2	-	0	125									immunoglobulin heavy variable 3-21																		CACTGGACACCTGCAAACAGA	0.527																																						uc010tyt.1																			0					0								Parts of antibodies, mostly variable regions.							133.0	123.0	126.0					14																	106691978		1918	4147	6065			8755							g.chr14:106691978C>G	Z14073		14q32.33	2012-02-08			ENSG00000211947	ENSG00000211947		"""Immunoglobulins / IGH locus"""	5586	other	immunoglobulin gene							Standard	NG_001019		Approved				OTTHUMG00000152279		14.37:g.106691978C>G														754		-									RNA	SNP	ENST00000390607.2	37	c.20385G>C																																																																																					PASS	0.527	IGHV3-21-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IG_V_gene	OTTHUMT00000325667.1	NG_001019		54	252	54	252	---	---	---	---
IGHV3-43	28426	broad.mit.edu	37	14	106926211	106926211	+	RNA	SNP	C	C	A	rs116899367	byFrequency	TCGA-22-4595-01A-01D-1267-08	TCGA-22-4595-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7fcf5123-2d1b-4666-9d39-a1aaf63cf954	850e8a4d-e0f6-4bd6-80f5-1c20e2b0e4f9	g.chr14:106926211C>A	ENST00000434710.1	-	0	410									immunoglobulin heavy variable 3-43																		TAATACAAGGCGGTGTCCTCA	0.512																																						uc010tyt.1																			0					0								Parts of antibodies, mostly variable regions.							280.0	198.0	225.0					14																	106926211		2014	4178	6192			8755							g.chr14:106926211C>A	M99672		14q32.33	2012-02-08			ENSG00000232216	ENSG00000232216		"""Immunoglobulins / IGH locus"""	5604	other	immunoglobulin gene							Standard	NG_001019		Approved				OTTHUMG00000152094		14.37:g.106926211C>A						uc010tyu.1_Intron								235		-									RNA	SNP	ENST00000434710.1	37	c.10344G>T																																																																																					PASS	0.512	IGHV3-43-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IG_V_gene	OTTHUMT00000325191.1	NG_001019		84	558	84	558	---	---	---	---
IGHV1-58	28464	broad.mit.edu	37	14	107078546	107078546	+	RNA	SNP	G	G	T			TCGA-22-4595-01A-01D-1267-08	TCGA-22-4595-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7fcf5123-2d1b-4666-9d39-a1aaf63cf954	850e8a4d-e0f6-4bd6-80f5-1c20e2b0e4f9	g.chr14:107078546G>T	ENST00000390628.2	-	0	238									immunoglobulin heavy variable 1-58																		CGTTGTCCACGAGCCTGTCGC	0.532																																						uc010tyt.1																			0					0								Parts of antibodies, mostly variable regions.							79.0	87.0	84.0					14																	107078546		2034	4198	6232			8755							g.chr14:107078546G>T	M29809		14q32.33	2012-02-08			ENSG00000211968	ENSG00000211968		"""Immunoglobulins / IGH locus"""	5555	other	immunoglobulin gene							Standard	NG_001019		Approved				OTTHUMG00000151953		14.37:g.107078546G>T														117		-									RNA	SNP	ENST00000390628.2	37	c.5744C>A																																																																																					PASS	0.532	IGHV1-58-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IG_V_gene	OTTHUMT00000324599.1	NG_001019		19	76	19	76	---	---	---	---
RPUSD2	27079	broad.mit.edu	37	15	40861942	40861942	+	Missense_Mutation	SNP	G	G	C			TCGA-22-4595-01A-01D-1267-08	TCGA-22-4595-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7fcf5123-2d1b-4666-9d39-a1aaf63cf954	850e8a4d-e0f6-4bd6-80f5-1c20e2b0e4f9	g.chr15:40861942G>C	ENST00000315616.7	+	1	444	c.406G>C	c.(406-408)Gag>Cag	p.E136Q	RPUSD2_ENST00000559271.1_Missense_Mutation_p.E136Q	NM_152260.1	NP_689473.1	Q8IZ73	RUSD2_HUMAN	RNA pseudouridylate synthase domain containing 2	136					pseudouridine synthesis (GO:0001522)		poly(A) RNA binding (GO:0044822)|pseudouridine synthase activity (GO:0009982)	p.E136Q(1)		kidney(4)|lung(4)|skin(3)	11		all_cancers(109;2.74e-14)|all_epithelial(112;1.64e-11)|Lung NSC(122;6.69e-09)|all_lung(180;1.22e-07)|Melanoma(134;0.091)|Colorectal(260;0.175)|Ovarian(310;0.243)		GBM - Glioblastoma multiforme(113;3.1e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0786)		TTATTACTTCGAGGGCGGCCT	0.617																																						uc001zmd.1																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(406-408)GAG>CAG		RNA pseudouridylate synthase domain containing							34.0	28.0	30.0					15																	40861942		2203	4299	6502	SO:0001583	missense	27079				pseudouridine synthesis		protein binding|pseudouridine synthase activity|RNA binding	g.chr15:40861942G>C	AK055971	CCDS10061.1, CCDS66737.1	15q13.3	2013-02-11	2005-01-31	2005-02-07	ENSG00000166133	ENSG00000166133		"""RNA pseudouridylate synthase domain containing"""	24180	protein-coding gene	gene with protein product			"""chromosome 15 open reading frame 19"""	C15orf19		12477932	Standard	NM_001286407		Approved	C18B11, FLJ31409	uc001zmd.1	Q8IZ73	OTTHUMG00000130031	ENST00000315616.7:c.406G>C	15.37:g.40861942G>C	ENSP00000323288:p.Glu136Gln						p.E136Q	NM_152260	NP_689473	Q8IZ73	RUSD2_HUMAN		GBM - Glioblastoma multiforme(113;3.1e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0786)	1	406	+		all_cancers(109;2.74e-14)|all_epithelial(112;1.64e-11)|Lung NSC(122;6.69e-09)|all_lung(180;1.22e-07)|Melanoma(134;0.091)|Colorectal(260;0.175)|Ovarian(310;0.243)	136					B4DDD1|Q7L989|Q92939|Q96IA7|Q96N50	Missense_Mutation	SNP	ENST00000315616.7	37	c.406G>C	CCDS10061.1	.	.	.	.	.	.	.	.	.	.	G	22.7	4.322177	0.81580	.	.	ENSG00000166133	ENST00000315616;ENST00000417769	T	0.35236	1.32	5.93	5.93	0.95920	.	0.043207	0.85682	D	0.000000	T	0.56470	0.1987	L	0.58810	1.83	0.40269	D	0.978269	D	0.63046	0.992	P	0.60117	0.869	T	0.56269	-0.8007	10	0.72032	D	0.01	-29.1613	20.3409	0.98764	0.0:0.0:1.0:0.0	.	136	Q8IZ73	RUSD2_HUMAN	Q	136;115	ENSP00000323288:E136Q	ENSP00000323288:E136Q	E	+	1	0	RPUSD2	38649234	1.000000	0.71417	1.000000	0.80357	0.651000	0.38670	7.567000	0.82357	2.814000	0.96858	0.655000	0.94253	GAG		PASS	0.617	RPUSD2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252308.2	NM_152260		14	14	14	14	---	---	---	---
INO80	54617	broad.mit.edu	37	15	41279304	41279304	+	Missense_Mutation	SNP	C	C	T			TCGA-22-4595-01A-01D-1267-08	TCGA-22-4595-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7fcf5123-2d1b-4666-9d39-a1aaf63cf954	850e8a4d-e0f6-4bd6-80f5-1c20e2b0e4f9	g.chr15:41279304C>T	ENST00000361937.3	-	31	4241	c.3817G>A	c.(3817-3819)Gag>Aag	p.E1273K	INO80_ENST00000401393.3_Missense_Mutation_p.E1273K|INO80_ENST00000561244.1_5'UTR			Q9ULG1	INO80_HUMAN	INO80 complex subunit	1273	Assembles INO80 complex module consisting of conserved components INO80B, INO80C, ACTR5, RVBL1, RVBL2.				ATP catabolic process (GO:0006200)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|chromatin remodeling (GO:0006338)|DNA duplex unwinding (GO:0032508)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|mitotic sister chromatid segregation (GO:0000070)|positive regulation of cell growth (GO:0030307)|positive regulation of nuclear cell cycle DNA replication (GO:0010571)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of G1/S transition of mitotic cell cycle (GO:2000045)|spindle assembly (GO:0051225)|UV-damage excision repair (GO:0070914)	Ino80 complex (GO:0031011)|microtubule (GO:0005874)|nucleus (GO:0005634)	alpha-tubulin binding (GO:0043014)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)	p.E1273K(2)		NS(1)|breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	49						TTCTCCAACTCTTCGTCGTCT	0.463																																						uc001zni.2																			2	Substitution - Missense(2)		lung(2)	ovary(2)|pancreas(1)|skin(1)	4						c.(3817-3819)GAG>AAG		INO80 complex homolog 1							132.0	100.0	111.0					15																	41279304		2203	4300	6503	SO:0001583	missense	54617				cell division|cellular response to ionizing radiation|cellular response to UV|chromatin remodeling|double-strand break repair via homologous recombination|mitotic sister chromatid segregation|positive regulation of cell growth|positive regulation of DNA replication involved in S phase|positive regulation of transcription from RNA polymerase II promoter|regulation of G1/S transition of mitotic cell cycle|spindle assembly|UV-damage excision repair	Ino80 complex|microtubule	actin binding|alpha-tubulin binding|ATP binding|ATPase activity|DNA binding|DNA helicase activity	g.chr15:41279304C>T	AB033085	CCDS10071.1	15q15.1	2013-08-21	2013-08-21	2008-08-07	ENSG00000128908	ENSG00000128908	3.6.1.3	"""INO80 complex subunits"""	26956	protein-coding gene	gene with protein product	"""INO80 complex subunit A"""	610169	"""INO80 complex homolog 1 (S. cerevisiae)"", ""INO80 homolog (S. cerevisiae)"""	INOC1		16298340, 16230350, 20237820	Standard	NM_017553		Approved	KIAA1259, Ino80, hINO80, INO80A	uc001zni.3	Q9ULG1	OTTHUMG00000130209	ENST00000361937.3:c.3817G>A	15.37:g.41279304C>T	ENSP00000355205:p.Glu1273Lys					INO80_uc010ucu.1_RNA	p.E1273K	NM_017553	NP_060023	Q9ULG1	INO80_HUMAN			31	4030	-			1273			Assembles INO80 complex module consisting of conserved components INO80B, INO80C, ACTR5, RVBL1, RVBL2.		A6H8X4|Q9NTG6	Missense_Mutation	SNP	ENST00000361937.3	37	c.3817G>A	CCDS10071.1	.	.	.	.	.	.	.	.	.	.	C	35	5.438661	0.96168	.	.	ENSG00000128908	ENST00000263793;ENST00000361937;ENST00000401393	T;T	0.08370	3.1;3.1	4.97	4.97	0.65823	.	0.050734	0.85682	D	0.000000	T	0.24928	0.0605	L	0.52364	1.645	0.80722	D	1	D	0.63880	0.993	D	0.70935	0.971	T	0.00201	-1.1926	10	0.66056	D	0.02	.	18.7846	0.91949	0.0:1.0:0.0:0.0	.	1273	Q9ULG1	INO80_HUMAN	K	67;1273;1273	ENSP00000355205:E1273K;ENSP00000384686:E1273K	ENSP00000263793:E67K	E	-	1	0	INO80	39066596	1.000000	0.71417	1.000000	0.80357	0.931000	0.56810	7.606000	0.82863	2.753000	0.94483	0.557000	0.71058	GAG		PASS	0.463	INO80-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252527.2	NM_017553		30	62	30	62	---	---	---	---
ZNF106	64397	broad.mit.edu	37	15	42742495	42742495	+	Nonsense_Mutation	SNP	T	T	A			TCGA-22-4595-01A-01D-1267-08	TCGA-22-4595-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7fcf5123-2d1b-4666-9d39-a1aaf63cf954	850e8a4d-e0f6-4bd6-80f5-1c20e2b0e4f9	g.chr15:42742495T>A	ENST00000263805.4	-	2	2232	c.1906A>T	c.(1906-1908)Aga>Tga	p.R636*	ZNF106_ENST00000565380.1_Intron|ZNF106_ENST00000565611.1_Intron	NM_001284306.1|NM_001284307.1|NM_022473.1	NP_001271235.1|NP_001271236.1|NP_071918.1	Q9H2Y7	ZN106_HUMAN	zinc finger protein 106	636					insulin receptor signaling pathway (GO:0008286)	cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)	p.R636*(1)									GATAGCTCTCTAGAAGTCTTC	0.453																																						uc001zpw.2																			1	Substitution - Nonsense(1)		lung(1)	central_nervous_system(2)|ovary(1)	3						c.(1906-1908)AGA>TGA		zinc finger protein 106 homolog							182.0	186.0	185.0					15																	42742495		2203	4299	6502	SO:0001587	stop_gained	64397					nucleolus	zinc ion binding	g.chr15:42742495T>A	AF205632	CCDS32208.1, CCDS61602.1, CCDS61603.1	15q15.1	2012-11-27	2012-11-27		ENSG00000103994	ENSG00000103994		"""Zinc fingers, C2H2-type"""	12886	protein-coding gene	gene with protein product	"""SH3-domain binding protein 3"""		"""zinc finger protein 106 homolog (mouse)"""	ZFP106			Standard	XM_005254591		Approved	ZNF474, SH3BP3	uc001zpw.3	Q9H2Y7	OTTHUMG00000173244	ENST00000263805.4:c.1906A>T	15.37:g.42742495T>A	ENSP00000263805:p.Arg636*					ZFP106_uc001zpu.2_5'Flank|ZFP106_uc001zpv.2_Intron|ZFP106_uc001zpx.2_Intron|ZFP106_uc010udh.1_Nonsense_Mutation_p.R419*|ZFP106_uc001zpy.1_Nonsense_Mutation_p.R659*	p.R636*	NM_022473	NP_071918	Q9H2Y7	ZF106_HUMAN		GBM - Glioblastoma multiforme(94;8.6e-07)	2	2241	-		all_cancers(109;1.63e-12)|all_epithelial(112;3.97e-11)|Lung NSC(122;2.04e-07)|all_lung(180;8.31e-07)|Melanoma(134;0.091)	636					B4DZ40|E9PE29|Q6NSD9|Q6PEK1|Q86T43|Q86T45|Q86T50|Q86T58|Q86TA9|Q96M37|Q9H7B8	Nonsense_Mutation	SNP	ENST00000263805.4	37	c.1906A>T	CCDS32208.1	.	.	.	.	.	.	.	.	.	.	T	22.4	4.286653	0.80803	.	.	ENSG00000103994	ENST00000263805	.	.	.	5.14	1.62	0.23740	.	0.851178	0.10773	N	0.635780	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	0.08179	T	0.78	-6.027	5.5836	0.17262	0.0:0.2649:0.139:0.596	.	.	.	.	X	636	.	ENSP00000263805:R636X	R	-	1	2	ZFP106	40529787	0.005000	0.15991	0.004000	0.12327	0.030000	0.12068	0.142000	0.16096	0.497000	0.27926	0.528000	0.53228	AGA		PASS	0.453	ZNF106-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000422587.1	NM_022473		109	258	109	258	---	---	---	---
UBR1	197131	broad.mit.edu	37	15	43314927	43314927	+	Missense_Mutation	SNP	T	T	C			TCGA-22-4595-01A-01D-1267-08	TCGA-22-4595-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7fcf5123-2d1b-4666-9d39-a1aaf63cf954	850e8a4d-e0f6-4bd6-80f5-1c20e2b0e4f9	g.chr15:43314927T>C	ENST00000290650.4	-	26	2890	c.2812A>G	c.(2812-2814)Aca>Gca	p.T938A	UBR1_ENST00000382177.2_3'UTR	NM_174916.2	NP_777576.1	Q8IWV7	UBR1_HUMAN	ubiquitin protein ligase E3 component n-recognin 1	938					cellular response to leucine (GO:0071233)|negative regulation of TOR signaling (GO:0032007)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|proteasome complex (GO:0000502)|ubiquitin ligase complex (GO:0000151)	leucine binding (GO:0070728)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.T938A(1)		NS(2)|endometrium(2)|kidney(7)|large_intestine(12)|lung(25)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	58		all_cancers(109;4.32e-15)|all_epithelial(112;4.05e-13)|Lung NSC(122;1.75e-08)|all_lung(180;2e-07)|Melanoma(134;0.0179)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;4.08e-07)|COAD - Colon adenocarcinoma(120;0.185)|Colorectal(105;0.214)		AAGTCAAATGTTACTTCTTCT	0.333																																						uc001zqq.2																			1	Substitution - Missense(1)		lung(1)	lung(1)	1						c.(2812-2814)ACA>GCA		ubiquitin protein ligase E3 component n-recognin							103.0	102.0	103.0					15																	43314927		2203	4298	6501	SO:0001583	missense	197131				cellular response to leucine|negative regulation of TOR signaling cascade	cytosol	leucine binding|zinc ion binding	g.chr15:43314927T>C		CCDS10091.1	15q13	2008-06-23			ENSG00000159459	ENSG00000159459		"""Ubiquitin protein ligase E3 component n-recognins"""	16808	protein-coding gene	gene with protein product		605981				9653112	Standard	NM_174916		Approved		uc001zqq.3	Q8IWV7	OTTHUMG00000130702	ENST00000290650.4:c.2812A>G	15.37:g.43314927T>C	ENSP00000290650:p.Thr938Ala					UBR1_uc010udk.1_Missense_Mutation_p.T938A	p.T938A	NM_174916	NP_777576	Q8IWV7	UBR1_HUMAN		GBM - Glioblastoma multiforme(94;4.08e-07)|COAD - Colon adenocarcinoma(120;0.185)|Colorectal(105;0.214)	26	2878	-		all_cancers(109;4.32e-15)|all_epithelial(112;4.05e-13)|Lung NSC(122;1.75e-08)|all_lung(180;2e-07)|Melanoma(134;0.0179)|Colorectal(260;0.215)	938					O60708|O75492|Q14D45|Q68DN9|Q8IWY6|Q96JY4	Missense_Mutation	SNP	ENST00000290650.4	37	c.2812A>G	CCDS10091.1	.	.	.	.	.	.	.	.	.	.	T	11.62	1.694393	0.30052	.	.	ENSG00000159459	ENST00000290650;ENST00000546274	T	0.48201	0.82	4.57	2.26	0.28386	.	0.202694	0.44097	N	0.000497	T	0.37293	0.0998	M	0.68593	2.085	0.80722	D	1	B;B	0.06786	0.001;0.001	B;B	0.12156	0.007;0.003	T	0.26744	-1.0094	10	0.02654	T	1	-11.544	8.3211	0.32130	0.0:0.1611:0.0:0.8389	.	938;938	B4DYL2;Q8IWV7	.;UBR1_HUMAN	A	938	ENSP00000290650:T938A	ENSP00000290650:T938A	T	-	1	0	UBR1	41102219	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	2.622000	0.46427	0.379000	0.24794	0.528000	0.53228	ACA		PASS	0.333	UBR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253202.1	NM_174916		20	47	20	47	---	---	---	---
B2M	567	broad.mit.edu	37	15	45003747	45003747	+	Start_Codon_SNP	SNP	G	G	A			TCGA-22-4595-01A-01D-1267-08	TCGA-22-4595-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7fcf5123-2d1b-4666-9d39-a1aaf63cf954	850e8a4d-e0f6-4bd6-80f5-1c20e2b0e4f9	g.chr15:45003747G>A	ENST00000558401.1	+	1	73	c.3G>A	c.(1-3)atG>atA	p.M1I	B2M_ENST00000544417.1_Start_Codon_SNP_p.M1I|PATL2_ENST00000558573.1_5'Flank|B2M_ENST00000559916.1_Start_Codon_SNP_p.M1I	NM_004048.2	NP_004039.1	P61769	B2MG_HUMAN	beta-2-microglobulin	1					antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent (GO:0002480)|antigen processing and presentation of exogenous protein antigen via MHC class Ib, TAP-dependent (GO:0002481)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cytokine-mediated signaling pathway (GO:0019221)|innate immune response (GO:0045087)|interferon-gamma-mediated signaling pathway (GO:0060333)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|protein refolding (GO:0042026)|regulation of defense response to virus by virus (GO:0050690)|regulation of immune response (GO:0050776)|response to cadmium ion (GO:0046686)|response to drug (GO:0042493)|response to molecule of bacterial origin (GO:0002237)|retina homeostasis (GO:0001895)|T cell differentiation in thymus (GO:0033077)|viral process (GO:0016032)	cytoplasm (GO:0005737)|early endosome lumen (GO:0031905)|early endosome membrane (GO:0031901)|endoplasmic reticulum lumen (GO:0005788)|ER to Golgi transport vesicle membrane (GO:0012507)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|membrane (GO:0016020)|MHC class I protein complex (GO:0042612)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)	identical protein binding (GO:0042802)	p.M1I(1)|p.?(1)		breast(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(30)|kidney(8)|large_intestine(6)|lung(6)|ovary(2)|skin(2)|urinary_tract(1)	59		all_cancers(109;1.88e-13)|all_epithelial(112;2.13e-11)|Lung NSC(122;2.22e-07)|all_lung(180;1.81e-06)|Melanoma(134;0.0122)		all cancers(107;4.16e-21)|GBM - Glioblastoma multiforme(94;8.97e-07)|COAD - Colon adenocarcinoma(120;0.0357)|Colorectal(105;0.0377)|Lung(196;0.0903)|LUSC - Lung squamous cell carcinoma(244;0.192)		GGGCCGAGATGTCTCGCTCCG	0.612																																						uc001zuc.2																			2	Substitution - Missense(1)|Unknown(1)	p.M1V(2)	haematopoietic_and_lymphoid_tissue(1)|lung(1)	ovary(2)|skin(1)	3						c.(1-3)ATG>ATA		beta-2-microglobulin precursor							127.0	93.0	104.0					15																	45003747		2198	4298	6496	SO:0001582	initiator_codon_variant	567				antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|regulation of defense response to virus by virus|viral reproduction	early endosome membrane|Golgi membrane|MHC class I protein complex	protein binding	g.chr15:45003747G>A	AB021288	CCDS10113.1	15q21-q22.2	2013-01-11			ENSG00000166710	ENSG00000166710		"""Immunoglobulin superfamily / C1-set domain containing"""	914	protein-coding gene	gene with protein product		109700					Standard	NM_004048		Approved		uc001zuc.3	P61769	OTTHUMG00000131247	ENST00000558401.1:c.3G>A	15.37:g.45003747G>A	ENSP00000452780:p.Met1Ile					B2M_uc010uek.1_Missense_Mutation_p.M1I|B2M_uc010bdx.1_Missense_Mutation_p.M1I	p.M1I	NM_004048	NP_004039	P61769	B2MG_HUMAN		all cancers(107;4.16e-21)|GBM - Glioblastoma multiforme(94;8.97e-07)|COAD - Colon adenocarcinoma(120;0.0357)|Colorectal(105;0.0377)|Lung(196;0.0903)|LUSC - Lung squamous cell carcinoma(244;0.192)	1	63	+		all_cancers(109;1.88e-13)|all_epithelial(112;2.13e-11)|Lung NSC(122;2.22e-07)|all_lung(180;1.81e-06)|Melanoma(134;0.0122)	1					P01884|Q540F8|Q6IAT8|Q9UCK0|Q9UD48|Q9UDF4	Missense_Mutation	SNP	ENST00000558401.1	37	c.3G>A	CCDS10113.1	.	.	.	.	.	.	.	.	.	.	G	24.8	4.568193	0.86439	.	.	ENSG00000166710	ENST00000349264;ENST00000544417;ENST00000396754	T	0.01234	5.13	5.35	5.35	0.76521	.	.	.	.	.	T	0.03305	0.0096	.	.	.	0.80722	D	1	P;P;P	0.52463	0.925;0.953;0.877	P;P;B	0.47162	0.54;0.473;0.339	T	0.45381	-0.9265	8	0.87932	D	0	.	14.7506	0.69522	0.0:0.0:1.0:0.0	.	1;1;1	F5H6I0;A6XMH4;P61769	.;.;B2MG_HUMAN	I	1	ENSP00000437604:M1I	ENSP00000340858:M1I	M	+	3	0	B2M	42791039	0.965000	0.33210	0.422000	0.26621	0.025000	0.11179	4.373000	0.59537	2.941000	0.99782	0.655000	0.94253	ATG		PASS	0.612	B2M-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000254007.2	NM_004048	Missense_Mutation	35	66	35	66	---	---	---	---
ATP8B4	79895	broad.mit.edu	37	15	50264806	50264806	+	Nonsense_Mutation	SNP	T	T	A	rs190413059	byFrequency	TCGA-22-4595-01A-01D-1267-08	TCGA-22-4595-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7fcf5123-2d1b-4666-9d39-a1aaf63cf954	850e8a4d-e0f6-4bd6-80f5-1c20e2b0e4f9	g.chr15:50264806T>A	ENST00000284509.6	-	13	1357	c.1216A>T	c.(1216-1218)Aga>Tga	p.R406*	ATP8B4_ENST00000559829.1_Nonsense_Mutation_p.R406*	NM_024837.2	NP_079113.2	Q8TF62	AT8B4_HUMAN	ATPase, class I, type 8B, member 4	406						Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)	p.R406*(1)		breast(6)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|urinary_tract(1)	73		all_lung(180;0.00183)		all cancers(107;2.41e-07)|GBM - Glioblastoma multiforme(94;8.28e-05)		ATGGAACATCTTTTAAAGGTC	0.388																																						uc001zxu.2																			1	Substitution - Nonsense(1)		lung(1)	skin(3)|ovary(2)|breast(2)|large_intestine(1)	8						c.(1216-1218)AGA>TGA		ATPase class I type 8B member 4							89.0	77.0	81.0					15																	50264806		2196	4295	6491	SO:0001587	stop_gained	79895				ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr15:50264806T>A	AB075819	CCDS32238.1	15q21.2	2010-04-20	2007-09-19		ENSG00000104043	ENSG00000104043		"""ATPases / P-type"""	13536	protein-coding gene	gene with protein product		609123	"""ATPase, Class I, type 8B, member 4"""			11015572	Standard	NM_024837		Approved	ATPIM, KIAA1939	uc001zxu.3	Q8TF62		ENST00000284509.6:c.1216A>T	15.37:g.50264806T>A	ENSP00000284509:p.Arg406*					ATP8B4_uc010ber.2_Nonsense_Mutation_p.R279*|ATP8B4_uc010ufd.1_Nonsense_Mutation_p.R279*|ATP8B4_uc010ufe.1_RNA	p.R406*	NM_024837	NP_079113	Q8TF62	AT8B4_HUMAN		all cancers(107;2.41e-07)|GBM - Glioblastoma multiforme(94;8.28e-05)	13	1358	-		all_lung(180;0.00183)	406			Cytoplasmic (Potential).		Q9H727	Nonsense_Mutation	SNP	ENST00000284509.6	37	c.1216A>T	CCDS32238.1	.	.	.	.	.	.	.	.	.	.	T	39	7.823113	0.98510	.	.	ENSG00000104043	ENST00000284509	.	.	.	5.08	5.08	0.68730	.	0.054020	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.44086	T	0.13	.	12.8001	0.57580	0.0:0.0:0.0:1.0	.	.	.	.	X	406	.	ENSP00000284509:R406X	R	-	1	2	ATP8B4	48052098	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.950000	0.87804	1.901000	0.55032	0.528000	0.53228	AGA		PASS	0.388	ATP8B4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418100.1	NM_024837		21	62	21	62	---	---	---	---
LRRC49	54839	broad.mit.edu	37	15	71211506	71211506	+	Silent	SNP	T	T	C			TCGA-22-4595-01A-01D-1267-08	TCGA-22-4595-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7fcf5123-2d1b-4666-9d39-a1aaf63cf954	850e8a4d-e0f6-4bd6-80f5-1c20e2b0e4f9	g.chr15:71211506T>C	ENST00000260382.5	+	7	945	c.685T>C	c.(685-687)Ttg>Ctg	p.L229L	LRRC49_ENST00000560691.1_5'UTR|LRRC49_ENST00000560369.1_Silent_p.L234L|LRRC49_ENST00000443425.2_Silent_p.L185L|LRRC49_ENST00000436542.2_3'UTR|LRRC49_ENST00000544974.2_Silent_p.L219L	NM_001199017.1|NM_017691.3	NP_001185946.1|NP_060161.2	Q8IUZ0	LRC49_HUMAN	leucine rich repeat containing 49	229						cytoplasm (GO:0005737)|microtubule (GO:0005874)		p.L229L(1)		breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|lung(14)|ovary(2)|prostate(3)|skin(3)	34						TGAACTTAACTTGCGACACAA	0.328																																						uc002asw.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(685-687)TTG>CTG		leucine rich repeat containing 49							134.0	137.0	136.0					15																	71211506		2199	4297	6496	SO:0001819	synonymous_variant	54839					cytoplasm|microtubule		g.chr15:71211506T>C		CCDS32282.1, CCDS55971.1, CCDS58376.1, CCDS61694.1	15q23	2005-08-09				ENSG00000137821			25965	protein-coding gene	gene with protein product						12477932	Standard	NM_001199017		Approved	FLJ20156	uc010ukf.2	Q8IUZ0		ENST00000260382.5:c.685T>C	15.37:g.71211506T>C						LRRC49_uc002asu.2_Silent_p.L219L|LRRC49_uc002asx.2_Silent_p.L185L|LRRC49_uc010ukf.1_Silent_p.L234L|LRRC49_uc002asy.2_5'UTR|LRRC49_uc002asz.2_Silent_p.L201L	p.L229L	NM_017691	NP_060161	Q8IUZ0	LRC49_HUMAN			7	932	+			229			LRR 6.		B3KVX1|B7Z366|F5H1J4|G5E9T5|H0YLN4|Q9NXM6	Silent	SNP	ENST00000260382.5	37	c.685T>C	CCDS32282.1																																																																																				PASS	0.328	LRRC49-006	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000417209.3	NM_017691		50	144	50	144	---	---	---	---
THSD4	79875	broad.mit.edu	37	15	71952965	71952965	+	Missense_Mutation	SNP	G	G	C	rs201048829	byFrequency	TCGA-22-4595-01A-01D-1267-08	TCGA-22-4595-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7fcf5123-2d1b-4666-9d39-a1aaf63cf954	850e8a4d-e0f6-4bd6-80f5-1c20e2b0e4f9	g.chr15:71952965G>C	ENST00000355327.3	+	8	1383	c.1249G>C	c.(1249-1251)Gtg>Ctg	p.V417L	THSD4_ENST00000567838.1_3'UTR|THSD4_ENST00000261862.6_Missense_Mutation_p.V417L|THSD4_ENST00000357769.4_Missense_Mutation_p.V57L			Q6ZMP0	THSD4_HUMAN	thrombospondin, type I, domain containing 4	417					elastic fiber assembly (GO:0048251)	extracellular vesicular exosome (GO:0070062)|microfibril (GO:0001527)	metalloendopeptidase activity (GO:0004222)	p.V417L(1)		breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(20)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						TGTGTCGGGCGTGTTTAAGCA	0.552																																						uc002atb.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(1249-1251)GTG>CTG		thrombospondin, type I, domain containing 4							128.0	136.0	133.0					15																	71952965		1992	4169	6161	SO:0001583	missense	79875					proteinaceous extracellular matrix	metalloendopeptidase activity	g.chr15:71952965G>C	AK023772	CCDS10238.2, CCDS66817.1	15q23	2009-11-09			ENSG00000187720	ENSG00000187720			25835	protein-coding gene	gene with protein product		614476				19734141	Standard	NM_001286429		Approved	FVSY9334, PRO34005, FLJ13710, ADAMTSL6	uc002atb.1	Q6ZMP0	OTTHUMG00000133389	ENST00000355327.3:c.1249G>C	15.37:g.71952965G>C	ENSP00000347484:p.Val417Leu					THSD4_uc002atd.1_Missense_Mutation_p.V91L|THSD4_uc010ukg.1_Missense_Mutation_p.V57L|THSD4_uc002ate.2_Missense_Mutation_p.V57L	p.V417L	NM_024817	NP_079093	Q6ZMP0	THSD4_HUMAN			7	1328	+			417					B2RTY3|B4DR13|Q6MZI3|Q6UXZ8|Q9H8E4	Missense_Mutation	SNP	ENST00000355327.3	37	c.1249G>C	CCDS10238.2	.	.	.	.	.	.	.	.	.	.	G	20.7	4.040643	0.75732	.	.	ENSG00000187720	ENST00000355327;ENST00000261862;ENST00000357769;ENST00000345002	T;T;T	0.59772	0.24;0.24;0.73	4.77	4.77	0.60923	ADAM-TS Spacer 1 (1);	0.337248	0.27544	N	0.018884	T	0.58235	0.2108	N	0.19112	0.55	0.42341	D	0.992331	D;D;D;D	0.76494	0.999;0.961;0.998;0.991	D;P;D;D	0.85130	0.997;0.81;0.951;0.924	T	0.50972	-0.8764	10	0.06365	T	0.9	.	15.6624	0.77197	0.0:0.0:1.0:0.0	.	57;57;417;417	B4E1J6;B4DR13;Q6ZMP0-2;Q6ZMP0	.;.;.;THSD4_HUMAN	L	417;417;57;57	ENSP00000347484:V417L;ENSP00000261862:V417L;ENSP00000350413:V57L	ENSP00000261862:V417L	V	+	1	0	THSD4	69740019	1.000000	0.71417	0.937000	0.37676	0.983000	0.72400	4.231000	0.58639	2.362000	0.80069	0.655000	0.94253	GTG		PASS	0.552	THSD4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257253.2	NM_024817		51	156	51	156	---	---	---	---
SYNM	23336	broad.mit.edu	37	15	99672069	99672069	+	Silent	SNP	C	C	T			TCGA-22-4595-01A-01D-1267-08	TCGA-22-4595-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7fcf5123-2d1b-4666-9d39-a1aaf63cf954	850e8a4d-e0f6-4bd6-80f5-1c20e2b0e4f9	g.chr15:99672069C>T	ENST00000336292.6	+	5	3621	c.3501C>T	c.(3499-3501)agC>agT	p.S1167S	SYNM_ENST00000328642.7_Intron|RP11-6O2.4_ENST00000566974.1_RNA|SYNM_ENST00000561323.1_3'UTR|SYNM_ENST00000560674.1_Intron	NM_145728.2	NP_663780.2	O15061	SYNEM_HUMAN	synemin, intermediate filament protein	1168	Interaction with TLN1 and VCL.|Tail.				intermediate filament cytoskeleton organization (GO:0045104)	adherens junction (GO:0005912)|costamere (GO:0043034)|intermediate filament (GO:0005882)|membrane (GO:0016020)|neurofilament cytoskeleton (GO:0060053)	intermediate filament binding (GO:0019215)|structural constituent of cytoskeleton (GO:0005200)|structural constituent of muscle (GO:0008307)|vinculin binding (GO:0017166)	p.S1167S(1)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(8)|lung(6)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1)	29						CCGGAGCCAGCCGGTCTGTGA	0.612																																					Pancreas(125;1071 1762 21750 40003 40381)	uc002bup.2																			1	Substitution - coding silent(1)		lung(1)	ovary(3)|central_nervous_system(1)	4						c.(3502-3504)AGC>AGT		desmuslin isoform A							32.0	36.0	35.0					15																	99672069		2057	4204	6261	SO:0001819	synonymous_variant	23336				intermediate filament cytoskeleton organization	adherens junction|costamere|intermediate filament|neurofilament cytoskeleton	intermediate filament binding|structural constituent of cytoskeleton|structural constituent of muscle|vinculin binding	g.chr15:99672069C>T	AK026420	CCDS73786.1, CCDS73787.1	15q26.3	2014-09-17	2008-09-19	2008-09-19	ENSG00000182253	ENSG00000182253		"""A-kinase anchor proteins"", ""Intermediate filaments type IV"""	24466	protein-coding gene	gene with protein product	"""synemin alpha"", ""synemin beta"""	606087	"""desmuslin"""	DMN		11737198, 11454237	Standard	NM_145728		Approved	KIAA0353, SYN	uc002bup.3	O15061		ENST00000336292.6:c.3501C>T	15.37:g.99672069C>T						SYNM_uc002buo.2_Intron|SYNM_uc002buq.2_Intron	p.S1168S	NM_145728	NP_663780	O15061	SYNEM_HUMAN			6	3624	+			1168			Tail.|Interaction with TLN1 and VCL.		A7E2Y2|Q2TBJ4|Q5NJJ9|Q8TE61|Q8TE62	Silent	SNP	ENST00000336292.6	37	c.3504C>T																																																																																					PASS	0.612	SYNM-202	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_145728		3	44	3	44	---	---	---	---
CCP110	9738	broad.mit.edu	37	16	19556465	19556465	+	Missense_Mutation	SNP	C	C	A			TCGA-22-4595-01A-01D-1267-08	TCGA-22-4595-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7fcf5123-2d1b-4666-9d39-a1aaf63cf954	850e8a4d-e0f6-4bd6-80f5-1c20e2b0e4f9	g.chr16:19556465C>A	ENST00000381396.5	+	10	2883	c.2636C>A	c.(2635-2637)gCa>gAa	p.A879E	CCP110_ENST00000396212.2_Missense_Mutation_p.A879E|CCP110_ENST00000396208.2_Missense_Mutation_p.A879E	NM_001199022.1	NP_001185951	O43303	CP110_HUMAN	centriolar coiled coil protein 110kDa	879					cell projection organization (GO:0030030)|centriole replication (GO:0007099)|centrosome duplication (GO:0051298)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|regulation of cytokinesis (GO:0032465)	centriole (GO:0005814)|centrosome (GO:0005813)|cytosol (GO:0005829)|protein complex (GO:0043234)		p.A879E(1)		breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(8)|stomach(3)|urinary_tract(1)	21						GTAATGGATGCAGCTGAAAGA	0.353																																						uc002dgl.3																			1	Substitution - Missense(1)		lung(1)		0						c.(2635-2637)GCA>GAA		RecName: Full=Centrosomal protein of 110 kDa;          Short=Cep110;							130.0	116.0	121.0					16																	19556465		2196	4300	6496	SO:0001583	missense	9738				centriole replication|G2/M transition of mitotic cell cycle|regulation of cytokinesis	centriole|cytosol	protein binding	g.chr16:19556465C>A	AB007879	CCDS10579.1, CCDS55992.1	16p12.3	2014-02-20	2011-05-27		ENSG00000103540	ENSG00000103540			24342	protein-coding gene	gene with protein product		609544				9455477, 12361598, 16760425	Standard	NM_014711		Approved	KIAA0419, CP110	uc002dgl.4	O43303	OTTHUMG00000131459	ENST00000381396.5:c.2636C>A	16.37:g.19556465C>A	ENSP00000370803:p.Ala879Glu					CP110_uc002dgk.3_Missense_Mutation_p.A879E	p.A879E			O43303	CP110_HUMAN			10	2883	+			879					B7WP23|O43335|Q68DV9|Q8NE13	Missense_Mutation	SNP	ENST00000381396.5	37	c.2636C>A	CCDS55992.1	.	.	.	.	.	.	.	.	.	.	C	23.3	4.404104	0.83230	.	.	ENSG00000103540	ENST00000396212;ENST00000381396;ENST00000396208	T;T;T	0.15834	2.39;2.39;2.39	5.53	5.53	0.82687	.	0.209278	0.41605	D	0.000844	T	0.31827	0.0809	L	0.44542	1.39	0.37955	D	0.93278	D;D	0.76494	0.999;0.999	D;D	0.65233	0.933;0.933	T	0.06516	-1.0822	10	0.66056	D	0.02	-12.1622	13.7326	0.62797	0.0:0.9269:0.0:0.0731	.	879;879	O43303;O43303-2	CP110_HUMAN;.	E	879	ENSP00000379515:A879E;ENSP00000370803:A879E;ENSP00000379511:A879E	ENSP00000370803:A879E	A	+	2	0	CCP110	19463966	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	3.271000	0.51608	2.596000	0.87737	0.655000	0.94253	GCA		PASS	0.353	CCP110-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254284.2	NM_014711		4	119	4	119	---	---	---	---
ACSM2A	123876	broad.mit.edu	37	16	20471458	20471458	+	Missense_Mutation	SNP	C	C	G			TCGA-22-4595-01A-01D-1267-08	TCGA-22-4595-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7fcf5123-2d1b-4666-9d39-a1aaf63cf954	850e8a4d-e0f6-4bd6-80f5-1c20e2b0e4f9	g.chr16:20471458C>G	ENST00000573854.1	+	2	136	c.22C>G	c.(22-24)Cag>Gag	p.Q8E	ACSM2A_ENST00000424070.1_Missense_Mutation_p.Q8E|ACSM2A_ENST00000219054.6_Missense_Mutation_p.Q8E|ACSM2A_ENST00000575558.1_Intron|ACSM2A_ENST00000396104.2_Missense_Mutation_p.Q8E|ACSM2A_ENST00000417235.2_Intron|ACSM2A_ENST00000575690.1_Missense_Mutation_p.Q8E|ACSM2A_ENST00000536134.1_5'UTR	NM_001010845.2	NP_001010845	Q08AH3	ACS2A_HUMAN	acyl-CoA synthetase medium-chain family member 2A	8					fatty acid metabolic process (GO:0006631)|glucose homeostasis (GO:0042593)|medium-chain fatty-acyl-CoA metabolic process (GO:0036112)|triglyceride homeostasis (GO:0070328)	mitochondrion (GO:0005739)	ATP binding (GO:0005524)|butyrate-CoA ligase activity (GO:0047760)|metal ion binding (GO:0046872)	p.Q8E(1)		breast(2)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(34)|ovary(1)|skin(6)|stomach(1)	51						GCGAAAAGTTCAGGGACTTTG	0.498																																						uc010bwe.2																			1	Substitution - Missense(1)		lung(1)	skin(2)|breast(1)	3						c.(22-24)CAG>GAG		acyl-CoA synthetase medium-chain family member							62.0	62.0	62.0					16																	20471458		2203	4300	6503	SO:0001583	missense	123876				fatty acid metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|metal ion binding	g.chr16:20471458C>G	AK091878, AK096039	CCDS32401.1	16p12.3	2014-08-08	2007-06-20	2007-06-20	ENSG00000183747	ENSG00000183747		"""Acyl-CoA synthetase family"""	32017	protein-coding gene	gene with protein product		614358	"""acyl-CoA synthetase medium-chain family member 2"""	ACSM2			Standard	NM_001010845		Approved	A-923A4.1, MGC150530	uc010bwe.3	Q08AH3	OTTHUMG00000177401	ENST00000573854.1:c.22C>G	16.37:g.20471458C>G	ENSP00000459451:p.Gln8Glu					ACSM2A_uc010bwd.1_RNA|ACSM2A_uc010vax.1_Intron|ACSM2A_uc002dhf.3_Missense_Mutation_p.Q8E|ACSM2A_uc002dhg.3_Missense_Mutation_p.Q8E|ACSM2A_uc010vay.1_Intron	p.Q8E	NM_001010845	NP_001010845	Q08AH3	ACS2A_HUMAN			3	261	+			8					B3KTT9|O75202	Missense_Mutation	SNP	ENST00000573854.1	37	c.22C>G	CCDS32401.1	.	.	.	.	.	.	.	.	.	.	C	7.865	0.726821	0.15439	.	.	ENSG00000183747	ENST00000219054;ENST00000424070;ENST00000396104	T;T;T	0.41065	1.01;2.27;1.01	3.28	2.27	0.28462	.	1.011090	0.07956	N	0.981589	T	0.23249	0.0562	N	0.14661	0.345	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.25363	-1.0134	10	0.21540	T	0.41	-1.8925	4.6305	0.12498	0.0:0.6398:0.2313:0.1289	.	8	Q08AH3	ACS2A_HUMAN	E	8	ENSP00000219054:Q8E;ENSP00000394904:Q8E;ENSP00000379411:Q8E	ENSP00000219054:Q8E	Q	+	1	0	ACSM2A	20378959	0.002000	0.14202	0.002000	0.10522	0.073000	0.16967	0.767000	0.26575	0.663000	0.31027	0.454000	0.30748	CAG		PASS	0.498	ACSM2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000436764.1	NM_001010845		11	36	11	36	---	---	---	---
DNAH3	55567	broad.mit.edu	37	16	21108759	21108759	+	Missense_Mutation	SNP	G	G	T			TCGA-22-4595-01A-01D-1267-08	TCGA-22-4595-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7fcf5123-2d1b-4666-9d39-a1aaf63cf954	850e8a4d-e0f6-4bd6-80f5-1c20e2b0e4f9	g.chr16:21108759G>T	ENST00000261383.3	-	18	2581	c.2582C>A	c.(2581-2583)gCc>gAc	p.A861D	DNAH3_ENST00000415178.1_Missense_Mutation_p.A861D	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	861	Stem. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|microtubule motor activity (GO:0003777)	p.A861D(2)		NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		CTTCAGCATGGCCTGCAGAAG	0.463																																						uc010vbe.1																			2	Substitution - Missense(2)		lung(2)	ovary(10)|skin(3)|large_intestine(2)|central_nervous_system(2)|upper_aerodigestive_tract(1)	18						c.(2581-2583)GCC>GAC		dynein, axonemal, heavy chain 3							194.0	148.0	164.0					16																	21108759		2201	4300	6501	SO:0001583	missense	55567				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr16:21108759G>T	U83574	CCDS10594.1	16p12.2	2008-08-01	2006-09-04		ENSG00000158486	ENSG00000158486		"""Axonemal dyneins"""	2949	protein-coding gene	gene with protein product		603334	"""dynein, axonemal, heavy polypeptide 3"""			9256245, 9373155	Standard	NM_017539		Approved	Dnahc3b, DLP3, Hsadhc3, DKFZp434N074	uc010vbe.2	Q8TD57	OTTHUMG00000090677	ENST00000261383.3:c.2582C>A	16.37:g.21108759G>T	ENSP00000261383:p.Ala861Asp						p.A861D	NM_017539	NP_060009	Q8TD57	DYH3_HUMAN		GBM - Glioblastoma multiforme(48;0.207)	18	2582	-			861			Stem (By similarity).		O00437|O15437|O43326|Q3C0H2|Q8WUP9|Q9UEM3|Q9UEM5|Q9UG35	Missense_Mutation	SNP	ENST00000261383.3	37	c.2582C>A	CCDS10594.1	.	.	.	.	.	.	.	.	.	.	G	3.342	-0.134417	0.06711	.	.	ENSG00000158486	ENST00000261383;ENST00000415178	T;T	0.60672	1.99;0.17	5.67	0.973	0.19710	.	0.721651	0.13648	N	0.372470	T	0.35799	0.0944	N	0.14661	0.345	0.09310	N	1	B	0.22276	0.067	B	0.27380	0.079	T	0.24083	-1.0170	10	0.23891	T	0.37	.	6.8768	0.24151	0.3:0.1324:0.5677:0.0	.	861	Q8TD57	DYH3_HUMAN	D	861	ENSP00000261383:A861D;ENSP00000394245:A861D	ENSP00000261383:A861D	A	-	2	0	DNAH3	21016260	0.001000	0.12720	0.002000	0.10522	0.065000	0.16274	0.837000	0.27558	0.337000	0.23665	0.650000	0.86243	GCC		PASS	0.463	DNAH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207361.1	NM_017539		65	161	65	161	---	---	---	---
RBL2	5934	broad.mit.edu	37	16	53504378	53504378	+	Missense_Mutation	SNP	A	A	T			TCGA-22-4595-01A-01D-1267-08	TCGA-22-4595-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7fcf5123-2d1b-4666-9d39-a1aaf63cf954	850e8a4d-e0f6-4bd6-80f5-1c20e2b0e4f9	g.chr16:53504378A>T	ENST00000262133.6	+	16	2466	c.2329A>T	c.(2329-2331)Atc>Ttc	p.I777F	RBL2_ENST00000544545.1_Intron|RBL2_ENST00000379935.4_3'UTR	NM_005611.3	NP_005602.3	Q08999	RBL2_HUMAN	retinoblastoma-like 2	777	Pocket; binds E1A.|Spacer.				chromatin modification (GO:0016568)|mitotic cell cycle (GO:0000278)|regulation of cell cycle (GO:0051726)|regulation of lipid kinase activity (GO:0043550)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)	p.I777F(1)		breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(17)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						GACAGGCTCCATCCAGCCCCT	0.512																																						uc002ehi.3																			1	Substitution - Missense(1)		lung(1)	ovary(2)|lung(2)|upper_aerodigestive_tract(1)	5						c.(2329-2331)ATC>TTC		retinoblastoma-like 2 (p130)							53.0	52.0	53.0					16																	53504378		2198	4300	6498	SO:0001583	missense	5934				cell cycle|chromatin modification|regulation of cell cycle|regulation of lipid kinase activity|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding	g.chr16:53504378A>T	X74594	CCDS10748.1	16q12.2	2014-03-11	2014-03-11		ENSG00000103479	ENSG00000103479			9894	protein-coding gene	gene with protein product		180203				8361765, 8643454	Standard	NM_005611		Approved	Rb2, p130	uc002ehi.4	Q08999	OTTHUMG00000133198	ENST00000262133.6:c.2329A>T	16.37:g.53504378A>T	ENSP00000262133:p.Ile777Phe					RBL2_uc002ehj.2_Missense_Mutation_p.I487F|RBL2_uc010vgw.1_Intron	p.I777F	NM_005611	NP_005602	Q08999	RBL2_HUMAN			16	2447	+			777			Spacer.|Pocket; binds E1A.		B7Z913|Q15073|Q16084|Q8NE70|Q92812	Missense_Mutation	SNP	ENST00000262133.6	37	c.2329A>T	CCDS10748.1	.	.	.	.	.	.	.	.	.	.	A	11.91	1.778417	0.31502	.	.	ENSG00000103479	ENST00000262133;ENST00000379935	D	0.89939	-2.59	5.7	2.2	0.27929	.	0.421413	0.26773	N	0.022563	T	0.80623	0.4658	L	0.40543	1.245	0.80722	D	1	B;B	0.29862	0.259;0.047	B;B	0.26517	0.07;0.024	T	0.71974	-0.4430	10	0.41790	T	0.15	-6.8073	5.7309	0.18038	0.5589:0.303:0.1381:0.0	.	487;777	E9PG04;Q08999	.;RBL2_HUMAN	F	777;487	ENSP00000262133:I777F	ENSP00000262133:I777F	I	+	1	0	RBL2	52061879	0.884000	0.30299	0.931000	0.37212	0.997000	0.91878	1.357000	0.34090	0.415000	0.25817	0.454000	0.30748	ATC		PASS	0.512	RBL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256908.3	NM_005611		18	27	18	27	---	---	---	---
ZNF23	7571	broad.mit.edu	37	16	71482506	71482506	+	Silent	SNP	T	T	C			TCGA-22-4595-01A-01D-1267-08	TCGA-22-4595-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7fcf5123-2d1b-4666-9d39-a1aaf63cf954	850e8a4d-e0f6-4bd6-80f5-1c20e2b0e4f9	g.chr16:71482506T>C	ENST00000393539.2	-	6	2235	c.1422A>G	c.(1420-1422)aaA>aaG	p.K474K	ZNF23_ENST00000539742.1_5'UTR|ZNF23_ENST00000564528.1_Silent_p.K416K|ZNF23_ENST00000428724.2_Silent_p.K416K|ZNF23_ENST00000358700.2_3'UTR|ZNF23_ENST00000357254.4_Silent_p.K474K|ZNF23_ENST00000497160.1_3'UTR|AC010547.9_ENST00000561908.1_3'UTR|ZNF23_ENST00000417828.1_Silent_p.K474K	NM_145911.1	NP_666016.1	P17027	ZNF23_HUMAN	zinc finger protein 23	474					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.K474K(1)		NS(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(14)|stomach(1)|urinary_tract(1)	29		Ovarian(137;0.00768)		BRCA - Breast invasive adenocarcinoma(221;0.0686)		ATTCAAAAGGTTTCTCCCCAG	0.433																																						uc002faf.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(1420-1422)AAA>AAG		zinc finger protein 23							73.0	72.0	72.0					16																	71482506		2198	4300	6498	SO:0001819	synonymous_variant	7571				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr16:71482506T>C	X52347	CCDS10900.1	16q22.2	2013-03-28	2012-07-12		ENSG00000167377	ENSG00000167377		"""Zinc fingers, C2H2-type"""	13023	protein-coding gene	gene with protein product		194527	"""zinc finger protein 359"""	ZNF359			Standard	NM_145911		Approved	KOX16, Zfp612, ZNF612	uc002faf.3	P17027	OTTHUMG00000176797	ENST00000393539.2:c.1422A>G	16.37:g.71482506T>C						ZNF23_uc002fad.2_Silent_p.K416K|ZNF23_uc002fae.2_Silent_p.K416K|ZNF23_uc010vmf.1_Silent_p.K416K|ZNF23_uc002fag.2_Silent_p.K416K|ZNF23_uc002fah.2_Silent_p.K474K|ZNF23_uc002fai.2_Silent_p.K513K	p.K474K	NM_145911	NP_666016	P17027	ZNF23_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0686)	6	2236	-		Ovarian(137;0.00768)	474					Q8NDP5|Q96IT3|Q9UG42	Silent	SNP	ENST00000393539.2	37	c.1422A>G	CCDS10900.1																																																																																				PASS	0.433	ZNF23-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268985.23	NM_145911		26	82	26	82	---	---	---	---
ZNF23	7571	broad.mit.edu	37	16	71482585	71482585	+	Missense_Mutation	SNP	T	T	A			TCGA-22-4595-01A-01D-1267-08	TCGA-22-4595-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7fcf5123-2d1b-4666-9d39-a1aaf63cf954	850e8a4d-e0f6-4bd6-80f5-1c20e2b0e4f9	g.chr16:71482585T>A	ENST00000393539.2	-	6	2156	c.1343A>T	c.(1342-1344)tAt>tTt	p.Y448F	ZNF23_ENST00000539742.1_5'UTR|ZNF23_ENST00000564528.1_Missense_Mutation_p.Y390F|ZNF23_ENST00000428724.2_Missense_Mutation_p.Y390F|ZNF23_ENST00000358700.2_3'UTR|ZNF23_ENST00000357254.4_Missense_Mutation_p.Y448F|ZNF23_ENST00000497160.1_3'UTR|AC010547.9_ENST00000561908.1_3'UTR|ZNF23_ENST00000417828.1_Missense_Mutation_p.Y448F	NM_145911.1	NP_666016.1	P17027	ZNF23_HUMAN	zinc finger protein 23	448					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.Y448F(1)		NS(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(14)|stomach(1)|urinary_tract(1)	29		Ovarian(137;0.00768)		BRCA - Breast invasive adenocarcinoma(221;0.0686)		ATTACACTCATAGGGCTTCTC	0.458																																						uc002faf.2																			1	Substitution - Missense(1)		lung(1)		0						c.(1342-1344)TAT>TTT		zinc finger protein 23							56.0	57.0	57.0					16																	71482585		2198	4300	6498	SO:0001583	missense	7571				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr16:71482585T>A	X52347	CCDS10900.1	16q22.2	2013-03-28	2012-07-12		ENSG00000167377	ENSG00000167377		"""Zinc fingers, C2H2-type"""	13023	protein-coding gene	gene with protein product		194527	"""zinc finger protein 359"""	ZNF359			Standard	NM_145911		Approved	KOX16, Zfp612, ZNF612	uc002faf.3	P17027	OTTHUMG00000176797	ENST00000393539.2:c.1343A>T	16.37:g.71482585T>A	ENSP00000377171:p.Tyr448Phe					ZNF23_uc002fad.2_Missense_Mutation_p.Y390F|ZNF23_uc002fae.2_Missense_Mutation_p.Y390F|ZNF23_uc010vmf.1_Missense_Mutation_p.Y390F|ZNF23_uc002fag.2_Missense_Mutation_p.Y390F|ZNF23_uc002fah.2_Missense_Mutation_p.Y448F|ZNF23_uc002fai.2_Missense_Mutation_p.Y487F	p.Y448F	NM_145911	NP_666016	P17027	ZNF23_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0686)	6	2157	-		Ovarian(137;0.00768)	448			C2H2-type 11.		Q8NDP5|Q96IT3|Q9UG42	Missense_Mutation	SNP	ENST00000393539.2	37	c.1343A>T	CCDS10900.1	.	.	.	.	.	.	.	.	.	.	T	14.09	2.432923	0.43224	.	.	ENSG00000167377	ENST00000393539;ENST00000357254;ENST00000417828;ENST00000428724;ENST00000539742;ENST00000358700	T;T;T;T	0.18338	2.22;2.22;2.22;2.22	4.27	3.15	0.36227	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.40064	N	0.001183	T	0.21145	0.0509	N	0.16098	0.37	0.27130	N	0.961913	D;D	0.76494	0.998;0.999	D;D	0.85130	0.96;0.997	T	0.02789	-1.1110	10	0.48119	T	0.1	-33.7964	8.7265	0.34471	0.1698:0.0:0.0:0.8301	.	448;448	B3KR55;P17027	.;ZNF23_HUMAN	F	448;448;448;390;390;220	ENSP00000377171:Y448F;ENSP00000349796:Y448F;ENSP00000395712:Y448F;ENSP00000387673:Y390F	ENSP00000349796:Y448F	Y	-	2	0	ZNF23	70040086	0.724000	0.28038	0.971000	0.41717	0.986000	0.74619	1.071000	0.30666	0.943000	0.37553	0.459000	0.35465	TAT		PASS	0.458	ZNF23-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268985.23	NM_145911		7	71	7	71	---	---	---	---
ZNF23	7571	broad.mit.edu	37	16	71482587	71482587	+	Silent	SNP	G	G	A			TCGA-22-4595-01A-01D-1267-08	TCGA-22-4595-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7fcf5123-2d1b-4666-9d39-a1aaf63cf954	850e8a4d-e0f6-4bd6-80f5-1c20e2b0e4f9	g.chr16:71482587G>A	ENST00000393539.2	-	6	2154	c.1341C>T	c.(1339-1341)ccC>ccT	p.P447P	ZNF23_ENST00000539742.1_5'UTR|ZNF23_ENST00000564528.1_Silent_p.P389P|ZNF23_ENST00000428724.2_Silent_p.P389P|ZNF23_ENST00000358700.2_3'UTR|ZNF23_ENST00000357254.4_Silent_p.P447P|ZNF23_ENST00000497160.1_3'UTR|AC010547.9_ENST00000561908.1_3'UTR|ZNF23_ENST00000417828.1_Silent_p.P447P	NM_145911.1	NP_666016.1	P17027	ZNF23_HUMAN	zinc finger protein 23	447					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.P447P(1)		NS(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(14)|stomach(1)|urinary_tract(1)	29		Ovarian(137;0.00768)		BRCA - Breast invasive adenocarcinoma(221;0.0686)		TACACTCATAGGGCTTCTCCC	0.458																																						uc002faf.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(1339-1341)CCC>CCT		zinc finger protein 23							56.0	57.0	57.0					16																	71482587		2198	4300	6498	SO:0001819	synonymous_variant	7571				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr16:71482587G>A	X52347	CCDS10900.1	16q22.2	2013-03-28	2012-07-12		ENSG00000167377	ENSG00000167377		"""Zinc fingers, C2H2-type"""	13023	protein-coding gene	gene with protein product		194527	"""zinc finger protein 359"""	ZNF359			Standard	NM_145911		Approved	KOX16, Zfp612, ZNF612	uc002faf.3	P17027	OTTHUMG00000176797	ENST00000393539.2:c.1341C>T	16.37:g.71482587G>A						ZNF23_uc002fad.2_Silent_p.P389P|ZNF23_uc002fae.2_Silent_p.P389P|ZNF23_uc010vmf.1_Silent_p.P389P|ZNF23_uc002fag.2_Silent_p.P389P|ZNF23_uc002fah.2_Silent_p.P447P|ZNF23_uc002fai.2_Silent_p.P486P	p.P447P	NM_145911	NP_666016	P17027	ZNF23_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0686)	6	2155	-		Ovarian(137;0.00768)	447					Q8NDP5|Q96IT3|Q9UG42	Silent	SNP	ENST00000393539.2	37	c.1341C>T	CCDS10900.1																																																																																				PASS	0.458	ZNF23-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268985.23	NM_145911		6	68	6	68	---	---	---	---
MLKL	197259	broad.mit.edu	37	16	74712798	74712798	+	Splice_Site	SNP	T	T	C			TCGA-22-4595-01A-01D-1267-08	TCGA-22-4595-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7fcf5123-2d1b-4666-9d39-a1aaf63cf954	850e8a4d-e0f6-4bd6-80f5-1c20e2b0e4f9	g.chr16:74712798T>C	ENST00000308807.7	-	7	1500	c.1037A>G	c.(1036-1038)aAg>aGg	p.K346R	MLKL_ENST00000306247.7_Intron	NM_152649.2	NP_689862.1			mixed lineage kinase domain-like									p.K346R(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(2)|lung(6)|skin(1)|stomach(2)	19						CACACTCACCTTCACTTGGTA	0.517																																						uc002fdb.2																			1	Substitution - Missense(1)		lung(1)	stomach(2)	2						c.(1036-1038)AAG>AGG		mixed lineage kinase domain-like isoform 1							135.0	106.0	116.0					16																	74712798		2198	4300	6498	SO:0001630	splice_region_variant	197259						ATP binding|protein binding|protein kinase activity	g.chr16:74712798T>C	AK091708	CCDS32487.1, CCDS45528.1	16q22.3	2008-02-05				ENSG00000168404			26617	protein-coding gene	gene with protein product		615153				12477932	Standard	NM_152649		Approved	FLJ34389	uc002fdb.2	Q8NB16		ENST00000308807.7:c.1038+1A>G	16.37:g.74712798T>C						MLKL_uc002fdc.2_Intron	p.K346R	NM_152649	NP_689862	Q8NB16	MLKL_HUMAN			7	1478	-			346			Protein kinase.			Missense_Mutation	SNP	ENST00000308807.7	37	c.1037A>G	CCDS32487.1	.	.	.	.	.	.	.	.	.	.	T	14.25	2.480562	0.44044	.	.	ENSG00000168404	ENST00000308807	D	0.95949	-3.86	4.93	3.82	0.43975	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.049480	0.85682	D	0.000000	D	0.97390	0.9146	M	0.86343	2.81	0.32617	N	0.523804	D	0.89917	1.0	D	0.83275	0.996	D	0.97432	1.0016	10	0.87932	D	0	-29.4865	8.423	0.32712	0.1743:0.0:0.0:0.8257	.	346	Q8NB16	MLKL_HUMAN	R	346	ENSP00000308351:K346R	ENSP00000308351:K346R	K	-	2	0	MLKL	73270299	1.000000	0.71417	0.999000	0.59377	0.069000	0.16628	2.596000	0.46205	0.950000	0.37743	0.421000	0.28195	AAG		PASS	0.517	MLKL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000436403.3	NM_152649	Missense_Mutation	26	67	26	67	---	---	---	---
CHST6	4166	broad.mit.edu	37	16	75512582	75512582	+	Missense_Mutation	SNP	C	C	T			TCGA-22-4595-01A-01D-1267-08	TCGA-22-4595-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7fcf5123-2d1b-4666-9d39-a1aaf63cf954	850e8a4d-e0f6-4bd6-80f5-1c20e2b0e4f9	g.chr16:75512582C>T	ENST00000332272.4	-	3	1324	c.1145G>A	c.(1144-1146)gGc>gAc	p.G382D	CHST6_ENST00000390664.2_Missense_Mutation_p.G382D|RP11-77K12.4_ENST00000530512.3_RNA	NM_021615.4	NP_067628.1	Q9GZX3	CHST6_HUMAN	carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 6	382					carbohydrate metabolic process (GO:0005975)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate metabolic process (GO:0042339)|N-acetylglucosamine metabolic process (GO:0006044)|small molecule metabolic process (GO:0044281)|sulfur compound metabolic process (GO:0006790)	Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	N-acetylglucosamine 6-O-sulfotransferase activity (GO:0001517)	p.G382D(1)		central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						CCAAGTGAAGCCGTTCAGGCC	0.642																																						uc002fef.2																			1	Substitution - Missense(1)		lung(1)		0						c.(1144-1146)GGC>GAC		carbohydrate (N-acetylglucosamine 6-O)							66.0	64.0	65.0					16																	75512582		2198	4300	6498	SO:0001583	missense	4166				keratan sulfate biosynthetic process|N-acetylglucosamine metabolic process	Golgi membrane|integral to membrane	N-acetylglucosamine 6-O-sulfotransferase activity	g.chr16:75512582C>T	AF280086	CCDS10918.1	16q22	2008-02-05			ENSG00000183196	ENSG00000183196		"""Sulfotransferases, membrane-bound"""	6938	protein-coding gene	gene with protein product		605294		MCDC1		8644739, 11017086	Standard	NM_021615		Approved		uc002fef.3	Q9GZX3	OTTHUMG00000137612	ENST00000332272.4:c.1145G>A	16.37:g.75512582C>T	ENSP00000328983:p.Gly382Asp					CHST6_uc002feg.1_RNA|CHST6_uc002feh.1_Missense_Mutation_p.G382D	p.G382D	NM_021615	NP_067628	Q9GZX3	CHST6_HUMAN			3	1325	-			382			Lumenal (Potential).		D3DUK3	Missense_Mutation	SNP	ENST00000332272.4	37	c.1145G>A	CCDS10918.1	.	.	.	.	.	.	.	.	.	.	C	3.959	-0.010636	0.07727	.	.	ENSG00000183196	ENST00000332272;ENST00000390664	D;D	0.96073	-3.9;-3.9	4.8	3.73	0.42828	.	0.508271	0.20522	N	0.090695	D	0.86431	0.5931	N	0.14661	0.345	0.24385	N	0.99477	B	0.17667	0.023	B	0.14023	0.01	T	0.71659	-0.4526	10	0.12103	T	0.63	.	4.2788	0.10822	0.0:0.7048:0.0:0.2952	.	382	Q9GZX3	CHST6_HUMAN	D	382	ENSP00000328983:G382D;ENSP00000375079:G382D	ENSP00000328983:G382D	G	-	2	0	CHST6	74070083	1.000000	0.71417	0.996000	0.52242	0.096000	0.18686	2.025000	0.41059	2.220000	0.72140	0.591000	0.81541	GGC		PASS	0.642	CHST6-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000435478.1	NM_021615		43	78	43	78	---	---	---	---
ABR	29	broad.mit.edu	37	17	915092	915092	+	Missense_Mutation	SNP	C	C	T			TCGA-22-4595-01A-01D-1267-08	TCGA-22-4595-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7fcf5123-2d1b-4666-9d39-a1aaf63cf954	850e8a4d-e0f6-4bd6-80f5-1c20e2b0e4f9	g.chr17:915092C>T	ENST00000302538.5	-	19	2241	c.2095G>A	c.(2095-2097)Gat>Aat	p.D699N	ABR_ENST00000544583.2_Missense_Mutation_p.D653N|ABR_ENST00000574437.1_Missense_Mutation_p.D653N|ABR_ENST00000536794.2_Missense_Mutation_p.D481N|ABR_ENST00000543210.2_Missense_Mutation_p.D150N|ABR_ENST00000291107.2_Missense_Mutation_p.D662N|ABR_ENST00000572441.1_Intron	NM_001282149.1|NM_021962.3	NP_001269078.1|NP_068781.2	Q12979	ABR_HUMAN	active BCR-related	699	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				actin cytoskeleton organization (GO:0030036)|apoptotic signaling pathway (GO:0097190)|brain development (GO:0007420)|inner ear morphogenesis (GO:0042472)|negative regulation of cell migration (GO:0030336)|negative regulation of inflammatory response (GO:0050728)|negative regulation of neutrophil degranulation (GO:0043314)|neuromuscular process controlling balance (GO:0050885)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of phagocytosis (GO:0050766)|regulation of small GTPase mediated signal transduction (GO:0051056)|response to lipopolysaccharide (GO:0032496)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|membrane (GO:0016020)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)|Rac GTPase activator activity (GO:0030675)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.D699N(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	39				UCEC - Uterine corpus endometrioid carcinoma (25;0.0228)		TCACTGGCATCGAAGACGGCC	0.642																																					Esophageal Squamous(197;2016 2115 4129 29033 46447)	uc002fsd.2																			1	Substitution - Missense(1)		lung(1)	upper_aerodigestive_tract(1)	1						c.(2095-2097)GAT>AAT		active breakpoint cluster region-related							142.0	110.0	121.0					17																	915092		2203	4300	6503	SO:0001583	missense	29				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding|Rho guanyl-nucleotide exchange factor activity	g.chr17:915092C>T	L19704	CCDS10999.1, CCDS11000.1, CCDS54060.1, CCDS58497.1, CCDS73936.1	17p13	2013-01-10	2012-02-27		ENSG00000159842	ENSG00000159842		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	81	protein-coding gene	gene with protein product		600365	"""active BCR-related gene"""			2587217, 7479768	Standard	NM_001092		Approved	MDB	uc002fsd.4	Q12979	OTTHUMG00000090313	ENST00000302538.5:c.2095G>A	17.37:g.915092C>T	ENSP00000303909:p.Asp699Asn					ABR_uc002fse.2_Missense_Mutation_p.D653N|ABR_uc010vqf.1_Missense_Mutation_p.D150N|ABR_uc010vqg.1_Missense_Mutation_p.D481N|ABR_uc002fsg.2_Missense_Mutation_p.D662N|ABR_uc002fsh.1_Missense_Mutation_p.D307N|ABR_uc002fsf.2_Missense_Mutation_p.D236N	p.D699N	NM_021962	NP_068781	Q12979	ABR_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (25;0.0228)	19	2205	-			699			Rho-GAP.		B3KW89|B7Z6H7|D3DTH3|D3DTH4|F5H3S2|F5H8B3|Q13693|Q13694	Missense_Mutation	SNP	ENST00000302538.5	37	c.2095G>A	CCDS10999.1	.	.	.	.	.	.	.	.	.	.	C	24.1	4.493708	0.84962	.	.	ENSG00000159842	ENST00000302538;ENST00000544583;ENST00000291107;ENST00000536794;ENST00000543210;ENST00000382259	T;T;T;T;T	0.12672	2.66;2.66;2.66;2.66;2.66	5.96	5.96	0.96718	Rho GTPase-activating protein domain (4);Rho GTPase activation protein (1);	0.000000	0.85682	D	0.000000	T	0.20659	0.0497	L	0.35854	1.095	0.50467	D	0.999878	P;D;B;D;D;P	0.60575	0.941;0.988;0.271;0.964;0.966;0.939	P;P;B;B;P;P	0.51079	0.603;0.491;0.01;0.361;0.532;0.658	T	0.00199	-1.1928	10	0.32370	T	0.25	.	19.034	0.92970	0.0:1.0:0.0:0.0	.	481;150;307;662;609;699	B7Z683;F5H3S2;Q6ZT60;Q12979-2;B7Z2X0;Q12979	.;.;.;.;.;ABR_HUMAN	N	699;653;662;481;150;308	ENSP00000303909:D699N;ENSP00000442048:D653N;ENSP00000291107:D662N;ENSP00000437429:D481N;ENSP00000445198:D150N	ENSP00000291107:D662N	D	-	1	0	ABR	861842	1.000000	0.71417	0.996000	0.52242	0.844000	0.47949	7.818000	0.86416	2.843000	0.97960	0.650000	0.86243	GAT		PASS	0.642	ABR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206675.4			33	88	33	88	---	---	---	---
METTL16	79066	broad.mit.edu	37	17	2405605	2405605	+	Missense_Mutation	SNP	C	C	T			TCGA-22-4595-01A-01D-1267-08	TCGA-22-4595-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7fcf5123-2d1b-4666-9d39-a1aaf63cf954	850e8a4d-e0f6-4bd6-80f5-1c20e2b0e4f9	g.chr17:2405605C>T	ENST00000263092.6	-	2	148	c.21G>A	c.(19-21)atG>atA	p.M7I	METTL16_ENST00000571669.2_Intron|METTL16_ENST00000538844.1_5'UTR	NM_024086.3	NP_076991.3	Q86W50	MET16_HUMAN	methyltransferase like 16	7							methyltransferase activity (GO:0008168)|poly(A) RNA binding (GO:0044822)	p.M7I(2)		kidney(2)|large_intestine(9)|lung(4)|ovary(2)|skin(1)|urinary_tract(1)	19						TTCTTGCATGCATTGATTTAC	0.398																																						uc002fut.2																			2	Substitution - Missense(2)		lung(2)		0						c.(19-21)ATG>ATA		methyltransferase 10 domain containing							170.0	148.0	155.0					17																	2405605		1850	4097	5947	SO:0001583	missense	79066						methyltransferase activity	g.chr17:2405605C>T	AK027410	CCDS42232.1	17p13.3	2011-03-02	2011-03-02	2011-03-02	ENSG00000127804	ENSG00000127804			28484	protein-coding gene	gene with protein product			"""methyltransferase 10 domain containing"""	METT10D		18021804	Standard	NM_024086		Approved	MGC3329	uc002fut.3	Q86W50		ENST00000263092.6:c.21G>A	17.37:g.2405605C>T	ENSP00000263092:p.Met7Ile					METT10D_uc002fuu.3_RNA|METT10D_uc010cka.2_Intron|METT10D_uc002fuv.2_Missense_Mutation_p.M7I|METT10D_uc010vqx.1_RNA|METT10D_uc010vqy.1_5'UTR	p.M7I	NM_024086	NP_076991	Q86W50	MET16_HUMAN			2	169	-			7					D3DTI8|Q86TE5|Q96T16|Q9BVG7	Missense_Mutation	SNP	ENST00000263092.6	37	c.21G>A	CCDS42232.1	.	.	.	.	.	.	.	.	.	.	C	27.1	4.796697	0.90453	.	.	ENSG00000127804	ENST00000263092;ENST00000399834	T	0.52526	0.66	5.74	5.74	0.90152	.	0.000000	0.85682	D	0.000000	T	0.66992	0.2846	M	0.61703	1.905	0.80722	D	1	P;D	0.71674	0.851;0.998	P;D	0.73380	0.55;0.98	T	0.68096	-0.5499	10	0.72032	D	0.01	-0.1331	17.4128	0.87491	0.0:1.0:0.0:0.0	.	7;7	Q86W50-2;Q86W50	.;MET16_HUMAN	I	7	ENSP00000263092:M7I	ENSP00000263092:M7I	M	-	3	0	METTL16	2352355	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	6.570000	0.73996	2.712000	0.92718	0.561000	0.74099	ATG		PASS	0.398	METTL16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437653.2	NM_024086		5	203	5	203	---	---	---	---
OR1D5	8386	broad.mit.edu	37	17	2966397	2966397	+	Missense_Mutation	SNP	A	A	G			TCGA-22-4595-01A-01D-1267-08	TCGA-22-4595-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7fcf5123-2d1b-4666-9d39-a1aaf63cf954	850e8a4d-e0f6-4bd6-80f5-1c20e2b0e4f9	g.chr17:2966397A>G	ENST00000575751.1	-	1	504	c.505T>C	c.(505-507)Tgt>Cgt	p.C169R		NM_014566.1	NP_055381.1	P58170	OR1D5_HUMAN	olfactory receptor, family 1, subfamily D, member 5	169					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|G-protein coupled receptor signaling pathway (GO:0007186)|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.C169R(2)		kidney(1)|lung(10)	11						CGAGGCCCACAGAAGGTCACC	0.557																																						uc010vra.1																			2	Substitution - Missense(2)		lung(2)		0						c.(559-561)TGT>CGT		olfactory receptor, family 1, subfamily D,							70.0	74.0	72.0					17																	2966397		2173	4280	6453	SO:0001583	missense	8385							g.chr17:2966397A>G	AF087923	CCDS58499.1	17p13.3	2012-10-09			ENSG00000262628	ENSG00000262628		"""GPCR / Class A : Olfactory receptors"""	8186	protein-coding gene	gene with protein product						10673334	Standard	NM_014566		Approved	OR17-31	uc021tns.1	P58170	OTTHUMG00000177676	ENST00000575751.1:c.505T>C	17.37:g.2966397A>G	ENSP00000459028:p.Cys169Arg						p.C187R	NM_003552	NP_003543					1	559	-								Q96RA6	Missense_Mutation	SNP	ENST00000575751.1	37	c.559T>C	CCDS58499.1																																																																																				PASS	0.557	OR1D5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438410.2	NM_014566		6	42	6	42	---	---	---	---
TP53	7157	broad.mit.edu	37	17	7577532	7577532	+	Missense_Mutation	SNP	G	G	A			TCGA-22-4595-01A-01D-1267-08	TCGA-22-4595-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7fcf5123-2d1b-4666-9d39-a1aaf63cf954	850e8a4d-e0f6-4bd6-80f5-1c20e2b0e4f9	g.chr17:7577532G>A	ENST00000269305.4	-	7	938	c.749C>T	c.(748-750)cCc>cTc	p.P250L	TP53_ENST00000413465.2_Missense_Mutation_p.P250L|TP53_ENST00000359597.4_Missense_Mutation_p.P250L|TP53_ENST00000445888.2_Missense_Mutation_p.P250L|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000420246.2_Missense_Mutation_p.P250L|TP53_ENST00000455263.2_Missense_Mutation_p.P250L	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	250	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with ZNF385A.		P -> A (in sporadic cancers; somatic mutation).|P -> F (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|P -> H (in sporadic cancers; somatic mutation).|P -> L (in sporadic cancers; somatic mutation).|P -> N (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|P -> Q (in sporadic cancers; somatic mutation).|P -> S (in sporadic cancers; somatic mutation).|P -> T (in sporadic cancers; somatic mutation).|RP -> SA (in a sporadic cancer; somatic mutation).|RP -> SS (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.P250L(45)|p.0?(8)|p.?(5)|p.P250H(4)|p.P250F(3)|p.P250N(2)|p.M246_P250delMNRRP(2)|p.P250_L252delPIL(2)|p.P250Q(2)|p.R248_P250delRRP(1)|p.P250_T253delPILT(1)|p.N247_P250delNRRP(1)|p.R249_P250delRP(1)|p.R249_T256delRPILTIIT(1)|p.I251fs*94(1)|p.R249_I251delRPI(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)	GGTGAGGATGGGCCTCCGGTT	0.577		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		80	Substitution - Missense(56)|Deletion - In frame(10)|Whole gene deletion(8)|Unknown(5)|Deletion - Frameshift(1)	p.P250L(37)|p.P250S(12)|p.0?(7)|p.P250P(4)|p.P250F(3)|p.P250N(2)|p.P250A(2)|p.M246_P250delMNRRP(2)|p.P250Q(2)|p.P250_L252delPIL(2)|p.P250H(1)|p.P250_I251insXXXXXX(1)|p.N247_P250delNRRP(1)|p.P250T(1)|p.P250_T253delPILT(1)|p.R249_P250insR(1)|p.R249_I251delRPI(1)|p.R248_P250delRRP(1)|p.P250_I251insXXXXXXX(1)|p.R249_T256delRPILTIIT(1)|p.I251fs*94(1)|p.R249_P250>SS(1)|p.R249_P250delRP(1)|p.P250_I251insX(1)|p.P250fs*14(1)	large_intestine(14)|lung(10)|breast(10)|upper_aerodigestive_tract(5)|biliary_tract(5)|skin(5)|ovary(5)|stomach(4)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(4)|bone(4)|oesophagus(3)|liver(2)|urinary_tract(1)|eye(1)|peritoneum(1)|pancreas(1)|thyroid(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	CM973401	TP53	M		c.(748-750)CCC>CTC	Other_conserved_DNA_damage_response_genes	tumor protein p53 isoform a							154.0	112.0	126.0					17																	7577532		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.chr17:7577532G>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.749C>T	17.37:g.7577532G>A	ENSP00000269305:p.Pro250Leu	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.P250L|TP53_uc002gih.2_Missense_Mutation_p.P250L|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.P118L|TP53_uc010cng.1_Missense_Mutation_p.P118L|TP53_uc002gii.1_Missense_Mutation_p.P118L|TP53_uc010cnh.1_Missense_Mutation_p.P250L|TP53_uc010cni.1_Missense_Mutation_p.P250L|TP53_uc002gij.2_Missense_Mutation_p.P250L|TP53_uc010cnj.1_RNA|TP53_uc002gin.2_Missense_Mutation_p.P157L|TP53_uc002gio.2_Missense_Mutation_p.P118L	p.P250L	NM_001126112	NP_001119584	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	7	943	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	250		P -> L (in sporadic cancers; somatic mutation).|RP -> SA (in a sporadic cancer; somatic mutation).|P -> F (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|RP -> SS (in sporadic cancers; somatic mutation).|P -> T (in sporadic cancers; somatic mutation).|P -> Q (in sporadic cancers; somatic mutation).|P -> A (in sporadic cancers; somatic mutation).|P -> S (in sporadic cancers; somatic mutation).|P -> N (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|P -> H (in sporadic cancers; somatic mutation).	|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.749C>T	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	G	24.2	4.504438	0.85176	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000509690	D;D;D;D;D;D;D	0.99885	-7.5;-7.5;-7.5;-7.5;-7.5;-7.5;-7.5	4.62	4.62	0.57501	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99898	0.9951	M	0.91406	3.205	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	0.97110	0.997;0.996;0.998;0.998;1.0	D	0.96045	0.9027	10	0.87932	D	0	-1.5308	15.3618	0.74483	0.0:0.0:1.0:0.0	.	250;250;250;250;250	P04637-2;P04637-3;P04637;Q1MSW8;E7EQX7	.;.;P53_HUMAN;.;.	L	250;250;250;250;250;250;239;118	ENSP00000410739:P250L;ENSP00000352610:P250L;ENSP00000269305:P250L;ENSP00000398846:P250L;ENSP00000391127:P250L;ENSP00000391478:P250L;ENSP00000425104:P118L	ENSP00000269305:P250L	P	-	2	0	TP53	7518257	1.000000	0.71417	1.000000	0.80357	0.724000	0.41520	9.601000	0.98297	2.564000	0.86499	0.462000	0.41574	CCC		PASS	0.577	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		38	81	38	81	---	---	---	---
DNAH9	1770	broad.mit.edu	37	17	11784586	11784586	+	Missense_Mutation	SNP	C	C	A			TCGA-22-4595-01A-01D-1267-08	TCGA-22-4595-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7fcf5123-2d1b-4666-9d39-a1aaf63cf954	850e8a4d-e0f6-4bd6-80f5-1c20e2b0e4f9	g.chr17:11784586C>A	ENST00000262442.4	+	55	10730	c.10662C>A	c.(10660-10662)caC>caA	p.H3554Q	DNAH9_ENST00000454412.2_Missense_Mutation_p.H3554Q|DNAH9_ENST00000608377.1_5'Flank	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	3554	AAA 5. {ECO:0000250}.				cell projection organization (GO:0030030)|cellular component movement (GO:0006928)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|spermatogenesis (GO:0007283)	axoneme (GO:0005930)|cytoskeleton (GO:0005856)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)	p.H3554Q(1)		NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		TCATCCTCCACACCAAGCTGG	0.512																																						uc002gne.2																			1	Substitution - Missense(1)		lung(1)	skin(10)|ovary(4)|breast(3)|central_nervous_system(2)|pancreas(1)	20						c.(10660-10662)CAC>CAA		dynein, axonemal, heavy chain 9 isoform 2							97.0	88.0	91.0					17																	11784586		2203	4300	6503	SO:0001583	missense	1770				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr17:11784586C>A	U61740	CCDS11160.1, CCDS11161.1	17p12	2009-05-07	2006-09-04		ENSG00000007174	ENSG00000007174		"""Axonemal dyneins"""	2953	protein-coding gene	gene with protein product		603330	"""dynein, axonemal, heavy polypeptide 17-like"", ""dynein, axonemal, heavy polypeptide 9"""	DNAH17L		8812413, 11247663	Standard	NM_001372		Approved	Dnahc9, KIAA0357, HL20, HL-20, DNAL1, DYH9	uc002gne.3	Q9NYC9	OTTHUMG00000130383	ENST00000262442.4:c.10662C>A	17.37:g.11784586C>A	ENSP00000262442:p.His3554Gln					DNAH9_uc010coo.2_Missense_Mutation_p.H2848Q|DNAH9_uc002gnf.2_5'Flank	p.H3554Q	NM_001372	NP_001363	Q9NYC9	DYH9_HUMAN		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)	55	10730	+		Breast(5;0.0122)|all_epithelial(5;0.131)	3554			AAA 5 (By similarity).		A2VCQ8|O15064|O95494|Q9NQ28	Missense_Mutation	SNP	ENST00000262442.4	37	c.10662C>A	CCDS11160.1	.	.	.	.	.	.	.	.	.	.	C	12.71	2.019503	0.35606	.	.	ENSG00000007174	ENST00000262442;ENST00000454412;ENST00000413703	T;T	0.21932	1.98;1.98	4.85	-0.953	0.10362	.	0.102097	0.64402	N	0.000002	T	0.16085	0.0387	N	0.25094	0.71	0.80722	D	1	B	0.25850	0.136	B	0.42625	0.393	T	0.12760	-1.0535	10	0.25106	T	0.35	.	6.3419	0.21327	0.0:0.5345:0.1187:0.3468	.	3554	Q9NYC9	DYH9_HUMAN	Q	3554;3554;2136	ENSP00000262442:H3554Q;ENSP00000414874:H3554Q	ENSP00000262442:H3554Q	H	+	3	2	DNAH9	11725311	1.000000	0.71417	0.994000	0.49952	0.987000	0.75469	0.884000	0.28214	-0.173000	0.10761	0.655000	0.94253	CAC		PASS	0.512	DNAH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252756.2	NM_001372		36	139	36	139	---	---	---	---
TEKT3	64518	broad.mit.edu	37	17	15234796	15234796	+	Missense_Mutation	SNP	C	C	A			TCGA-22-4595-01A-01D-1267-08	TCGA-22-4595-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7fcf5123-2d1b-4666-9d39-a1aaf63cf954	850e8a4d-e0f6-4bd6-80f5-1c20e2b0e4f9	g.chr17:15234796C>A	ENST00000395930.1	-	3	293	c.107G>T	c.(106-108)cGc>cTc	p.R36L	TEKT3_ENST00000338696.2_Missense_Mutation_p.R36L	NM_031898.2	NP_114104.1	Q9BXF9	TEKT3_HUMAN	tektin 3	36					cilium morphogenesis (GO:0060271)|regulation of fertilization (GO:0080154)|sperm motility (GO:0030317)	acrosomal membrane (GO:0002080)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|nucleus (GO:0005634)|sperm flagellum (GO:0036126)		p.R36L(1)		endometrium(1)|kidney(3)|large_intestine(5)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	23				UCEC - Uterine corpus endometrioid carcinoma (92;0.0877)		GTGGGGAAAGCGGTCCCTGTA	0.537																																						uc002gon.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(106-108)CGC>CTC		tektin 3							105.0	100.0	102.0					17																	15234796		2203	4300	6503	SO:0001583	missense	64518				microtubule cytoskeleton organization	cilium axoneme|flagellar axoneme|microtubule		g.chr17:15234796C>A	AF334676	CCDS11169.1	17p12	2011-05-23			ENSG00000125409	ENSG00000125409			14293	protein-coding gene	gene with protein product		612683				11381029, 14735490	Standard	NM_031898		Approved	FLJ32828	uc002gon.3	Q9BXF9	OTTHUMG00000058965	ENST00000395930.1:c.107G>T	17.37:g.15234796C>A	ENSP00000379263:p.Arg36Leu						p.R36L	NM_031898	NP_114104	Q9BXF9	TEKT3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (92;0.0877)	3	294	-			36					B2RAS7|D3DTT0|Q8N5R5|Q96M48	Missense_Mutation	SNP	ENST00000395930.1	37	c.107G>T	CCDS11169.1	.	.	.	.	.	.	.	.	.	.	C	7.902	0.734714	0.15574	.	.	ENSG00000125409	ENST00000395930;ENST00000338696;ENST00000536146;ENST00000539316;ENST00000543896	T;T;T;T;T	0.48201	4.13;4.13;1.51;1.51;0.82	5.36	1.09	0.20402	.	0.402231	0.30879	N	0.008684	T	0.37652	0.1011	M	0.63428	1.95	0.42393	D	0.99253	B	0.18013	0.025	B	0.20767	0.031	T	0.13150	-1.0520	10	0.13108	T	0.6	-20.1652	7.439	0.27172	0.0:0.6776:0.1207:0.2017	.	36	Q9BXF9	TEKT3_HUMAN	L	36	ENSP00000379263:R36L;ENSP00000343995:R36L;ENSP00000446111:R36L;ENSP00000439713:R36L;ENSP00000444180:R36L	ENSP00000343995:R36L	R	-	2	0	TEKT3	15175521	0.171000	0.23029	0.122000	0.21767	0.821000	0.46438	0.415000	0.21181	0.072000	0.16694	0.650000	0.86243	CGC		PASS	0.537	TEKT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130385.2	NM_031898		38	80	38	80	---	---	---	---
NCOR1	9611	broad.mit.edu	37	17	16068452	16068452	+	Silent	SNP	A	A	G			TCGA-22-4595-01A-01D-1267-08	TCGA-22-4595-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7fcf5123-2d1b-4666-9d39-a1aaf63cf954	850e8a4d-e0f6-4bd6-80f5-1c20e2b0e4f9	g.chr17:16068452A>G	ENST00000268712.3	-	5	716	c.459T>C	c.(457-459)caT>caC	p.H153H	NCOR1_ENST00000395848.1_Silent_p.H44H|NCOR1_ENST00000395851.1_Silent_p.H153H	NM_006311.3	NP_006302.2	O75376	NCOR1_HUMAN	nuclear receptor corepressor 1	153	Interaction with ZBTB33 and HEXIM1.				CD4-positive, CD25-positive, alpha-beta regulatory T cell differentiation (GO:0002361)|cellular lipid metabolic process (GO:0044255)|cholesterol homeostasis (GO:0042632)|chromatin modification (GO:0016568)|circadian regulation of gene expression (GO:0032922)|definitive erythrocyte differentiation (GO:0060318)|gene expression (GO:0010467)|negative regulation of JNK cascade (GO:0046329)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|positive regulation of histone deacetylation (GO:0031065)|regulation of fatty acid transport (GO:2000191)|regulation of glycolytic process by negative regulation of transcription from RNA polymerase II promoter (GO:0072362)|regulation of lipid transport by negative regulation of transcription from RNA polymerase II promoter (GO:0072368)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|spindle assembly (GO:0051225)|thalamus development (GO:0021794)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle microtubule (GO:0005876)|transcription factor complex (GO:0005667)|transcriptional repressor complex (GO:0017053)	chromatin binding (GO:0003682)|histone deacetylase binding (GO:0042826)|histone deacetylase regulator activity (GO:0035033)|nuclear hormone receptor binding (GO:0035257)|RNA polymerase II activating transcription factor binding (GO:0001102)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|transcription regulatory region DNA binding (GO:0044212)	p.H153H(1)		NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(26)|ovary(1)|prostate(7)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(10)	107				UCEC - Uterine corpus endometrioid carcinoma (92;0.101)		ATGGAGCTTCATGTTTGCCTC	0.383																																						uc002gpo.2																			1	Substitution - coding silent(1)		lung(1)	upper_aerodigestive_tract(2)|ovary(1)|central_nervous_system(1)|kidney(1)	5						c.(457-459)CAT>CAC		nuclear receptor co-repressor 1							111.0	104.0	106.0					17																	16068452		2203	4300	6503	SO:0001819	synonymous_variant	9611				cellular lipid metabolic process|chromatin modification|negative regulation of JNK cascade|regulation of glycolysis by negative regulation of transcription from an RNA polymerase II promoter|regulation of lipid transport by negative regulation of transcription from an RNA polymerase II promoter|spindle assembly|transcription from RNA polymerase II promoter	nuclear chromatin|spindle microtubule|transcriptional repressor complex	histone deacetylase binding|transcription corepressor activity|transcription regulatory region DNA binding	g.chr17:16068452A>G	AF044209	CCDS11175.1, CCDS54094.1, CCDS54095.1	17p11.2	2014-06-12	2010-06-10		ENSG00000141027	ENSG00000141027			7672	protein-coding gene	gene with protein product	"""thyroid hormone- and retinoic acid receptor-associated corepressor 1"", ""protein phosphatase 1, regulatory subunit 109"""	600849	"""nuclear receptor co-repressor 1"""			7566114, 9724795	Standard	NM_006311		Approved	N-CoR, hCIT529I10, TRAC1, hN-CoR, KIAA1047, MGC104216, PPP1R109	uc002gpo.3	O75376	OTTHUMG00000059309	ENST00000268712.3:c.459T>C	17.37:g.16068452A>G						NCOR1_uc002gpn.2_Silent_p.H153H|NCOR1_uc002gpp.1_Silent_p.H44H|NCOR1_uc002gpr.2_Silent_p.H44H|NCOR1_uc002gps.1_Silent_p.H153H|NCOR1_uc010coz.1_5'UTR|NCOR1_uc010cpb.1_Silent_p.H153H|NCOR1_uc010cpa.1_Silent_p.H153H|NCOR1_uc002gpu.2_Silent_p.H153H	p.H153H	NM_006311	NP_006302	O75376	NCOR1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (92;0.101)	5	699	-			153			Interaction with ZBTB33 and HEXIM1.		B3DLF8|E9PGV6|Q86YY0|Q9UPV5|Q9UQ18	Silent	SNP	ENST00000268712.3	37	c.459T>C	CCDS11175.1																																																																																				PASS	0.383	NCOR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131751.5	NM_006311		16	257	16	257	---	---	---	---
CORO6	84940	broad.mit.edu	37	17	27944542	27944542	+	Intron	SNP	C	C	G			TCGA-22-4595-01A-01D-1267-08	TCGA-22-4595-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7fcf5123-2d1b-4666-9d39-a1aaf63cf954	850e8a4d-e0f6-4bd6-80f5-1c20e2b0e4f9	g.chr17:27944542C>G	ENST00000445145.2	-	6	755				CORO6_ENST00000580212.1_Intron|CORO6_ENST00000584969.1_Intron|CORO6_ENST00000388767.3_Missense_Mutation_p.Q243H|CORO6_ENST00000456796.3_Intron|RP11-68I3.2_ENST00000581474.1_RNA|CORO6_ENST00000345068.5_Missense_Mutation_p.Q243H|CORO6_ENST00000577909.1_Intron			Q6QEF8	CORO6_HUMAN	coronin 6						actin cytoskeleton organization (GO:0030036)	actin cytoskeleton (GO:0015629)	actin filament binding (GO:0051015)	p.Q243H(1)		breast(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(4)|prostate(1)|urinary_tract(2)	14						CCAGCTCTCGCTGGCTCATGC	0.697																																						uc002hel.2																			1	Substitution - Missense(1)		lung(1)		0						c.(727-729)CAG>CAC		coronin 6							17.0	21.0	19.0					17																	27944542		1973	4150	6123	SO:0001627	intron_variant	84940				actin cytoskeleton organization	actin cytoskeleton	actin filament binding	g.chr17:27944542C>G	AF193039	CCDS11252.2	17q11.2	2013-01-10			ENSG00000167549	ENSG00000167549		"""Coronins"", ""WD repeat domain containing"""	21356	protein-coding gene	gene with protein product							Standard	NM_032854		Approved	FLJ14871	uc002hel.2	Q6QEF8	OTTHUMG00000132732	ENST00000445145.2:c.754-482G>C	17.37:g.27944542C>G						CORO6_uc002hem.2_Intron|CORO6_uc002hen.2_5'UTR	p.Q243H	NM_032854	NP_116243	Q6QEF8	CORO6_HUMAN			5	731	-			243			WD 4.		B3KU26|Q71MF3|Q8WYH7|Q96K02	Missense_Mutation	SNP	ENST00000445145.2	37	c.729G>C		.	.	.	.	.	.	.	.	.	.	C	21.0	4.088586	0.76756	.	.	ENSG00000167549	ENST00000345068;ENST00000388767	T	0.01313	5.02	5.22	5.22	0.72569	.	0.131427	0.52532	D	0.000069	T	0.04907	0.0132	M	0.83012	2.62	0.80722	D	1	B	0.18013	0.025	B	0.35770	0.21	T	0.05386	-1.0888	10	0.87932	D	0	1.4034	13.1195	0.59318	0.0:0.9227:0.0:0.0773	.	243	Q6QEF8-5	.	H	314;243	ENSP00000373419:Q243H	ENSP00000344562:Q314H	Q	-	3	2	CORO6	24968668	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.933000	0.56545	2.456000	0.83038	0.448000	0.29417	CAG		PASS	0.697	CORO6-202	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000447831.1	NM_032854		16	32	16	32	---	---	---	---
TMEM132E	124842	broad.mit.edu	37	17	32955625	32955625	+	Missense_Mutation	SNP	C	C	G	rs79883914		TCGA-22-4595-01A-01D-1267-08	TCGA-22-4595-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7fcf5123-2d1b-4666-9d39-a1aaf63cf954	850e8a4d-e0f6-4bd6-80f5-1c20e2b0e4f9	g.chr17:32955625C>G	ENST00000321639.5	+	4	1100	c.772C>G	c.(772-774)Cgg>Ggg	p.R258G		NM_207313.1	NP_997196.1	Q6IEE7	T132E_HUMAN	transmembrane protein 132E	258						integral component of membrane (GO:0016021)		p.R258G(1)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(28)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	57				BRCA - Breast invasive adenocarcinoma(366;0.231)		TACCAAGTCACGGAGTGGCCA	0.612																																						uc002hif.2																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1						c.(772-774)CGG>GGG		transmembrane protein 132E precursor							70.0	58.0	62.0					17																	32955625		2203	4300	6503	SO:0001583	missense	124842					integral to membrane		g.chr17:32955625C>G	BN000149	CCDS11283.1	17q12	2012-11-01			ENSG00000181291	ENSG00000181291			26991	protein-coding gene	gene with protein product							Standard	NM_207313		Approved		uc002hif.3	Q6IEE7	OTTHUMG00000132927	ENST00000321639.5:c.772C>G	17.37:g.32955625C>G	ENSP00000316532:p.Arg258Gly						p.R258G	NM_207313	NP_997196	Q6IEE7	T132E_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.231)	4	1100	+			258			Extracellular (Potential).		Q8WUF4|Q8WVA5	Missense_Mutation	SNP	ENST00000321639.5	37	c.772C>G	CCDS11283.1	.	.	.	.	.	.	.	.	.	.	c	11.81	1.749639	0.30955	.	.	ENSG00000181291	ENST00000321639	T	0.18016	2.24	4.86	2.71	0.32032	.	0.165864	0.51477	D	0.000083	T	0.23492	0.0568	L	0.56769	1.78	0.40079	D	0.976114	D	0.56287	0.975	P	0.50896	0.653	T	0.04930	-1.0917	10	0.27082	T	0.32	-28.2684	11.4449	0.50116	0.52:0.48:0.0:0.0	.	258	Q6IEE7	T132E_HUMAN	G	258	ENSP00000316532:R258G	ENSP00000316532:R258G	R	+	1	2	TMEM132E	29979738	0.644000	0.27277	1.000000	0.80357	0.921000	0.55340	1.276000	0.33156	1.191000	0.43056	-0.738000	0.03535	CGG		PASS	0.612	TMEM132E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256440.2	NM_207313		13	28	13	28	---	---	---	---
EZH1	2145	broad.mit.edu	37	17	40861923	40861923	+	Silent	SNP	G	G	T			TCGA-22-4595-01A-01D-1267-08	TCGA-22-4595-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7fcf5123-2d1b-4666-9d39-a1aaf63cf954	850e8a4d-e0f6-4bd6-80f5-1c20e2b0e4f9	g.chr17:40861923G>T	ENST00000428826.2	-	13	1555	c.1434C>A	c.(1432-1434)atC>atA	p.I478I	EZH1_ENST00000592743.1_Silent_p.I478I|EZH1_ENST00000435174.1_Silent_p.I339I|EZH1_ENST00000590783.1_5'Flank|EZH1_ENST00000585893.1_Silent_p.I438I|EZH1_ENST00000415827.2_Silent_p.I469I|EZH1_ENST00000590078.1_Silent_p.I408I			Q92800	EZH1_HUMAN	enhancer of zeste 1 polycomb repressive complex 2 subunit	478					anatomical structure morphogenesis (GO:0009653)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	ESC/E(Z) complex (GO:0035098)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|histone methyltransferase activity (H3-K27 specific) (GO:0046976)	p.I478I(1)		breast(1)|endometrium(4)|large_intestine(6)|lung(9)|ovary(3)|prostate(1)|skin(1)|urinary_tract(2)	27		Breast(137;0.00104)		BRCA - Breast invasive adenocarcinoma(366;0.0784)		GCAGCTTCAGGATAAGTGATT	0.498																																						uc002iaz.2																			1	Substitution - coding silent(1)		lung(1)	ovary(3)	3						c.(1432-1434)ATC>ATA		enhancer of zeste homolog 1							199.0	185.0	190.0					17																	40861923		2203	4300	6503	SO:0001819	synonymous_variant	2145				anatomical structure morphogenesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	ESC/E(Z) complex	chromatin binding|DNA binding	g.chr17:40861923G>T		CCDS32659.1	17q21.1-q21.3	2014-05-28	2014-05-28			ENSG00000108799		"""Chromatin-modifying enzymes / K-methyltransferases"""	3526	protein-coding gene	gene with protein product		601674	"""enhancer of zeste (Drosophila) homolog 1"", ""enhancer of zeste homolog 1 (Drosophila)"""			8921387	Standard	NM_001991		Approved	KIAA0388, KMT6B	uc002iaz.3	Q92800		ENST00000428826.2:c.1434C>A	17.37:g.40861923G>T						EZH1_uc002iba.2_Silent_p.I469I|EZH1_uc010wgt.1_Silent_p.I408I|EZH1_uc010wgu.1_Silent_p.I484I|EZH1_uc010wgv.1_Silent_p.I438I|EZH1_uc010wgw.1_Silent_p.I339I|EZH1_uc010cyp.2_Silent_p.I379I|EZH1_uc010cyq.2_Silent_p.I395I|EZH1_uc010cyo.1_Silent_p.I141I|EZH1_uc010cyr.1_Silent_p.I130I	p.I478I	NM_001991	NP_001982	Q92800	EZH1_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.0784)	13	1579	-		Breast(137;0.00104)	478					A6NCH6|B4DIJ1|B4DIZ7|B4DSS2|B4E3R7|O43287|Q14459|Q53XP3	Silent	SNP	ENST00000428826.2	37	c.1434C>A	CCDS32659.1																																																																																				PASS	0.498	EZH1-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452347.1	NM_001991		55	144	55	144	---	---	---	---
FMNL1	752	broad.mit.edu	37	17	43320608	43320608	+	Missense_Mutation	SNP	G	G	T			TCGA-22-4595-01A-01D-1267-08	TCGA-22-4595-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7fcf5123-2d1b-4666-9d39-a1aaf63cf954	850e8a4d-e0f6-4bd6-80f5-1c20e2b0e4f9	g.chr17:43320608G>T	ENST00000331495.3	+	17	2470	c.2134G>T	c.(2134-2136)Gcc>Tcc	p.A712S	CTD-2020K17.4_ENST00000420431.2_RNA|FMNL1_ENST00000328118.3_Missense_Mutation_p.A712S|CTD-2020K17.3_ENST00000587534.1_RNA|CTD-2020K17.3_ENST00000393507.2_RNA|FMNL1_ENST00000587489.1_Missense_Mutation_p.A290S	NM_005892.3	NP_005883	O95466	FMNL_HUMAN	formin-like 1	712	FH2. {ECO:0000255|PROSITE- ProRule:PRU00774}.				actin filament severing (GO:0051014)|cortical actin cytoskeleton organization (GO:0030866)|regulation of cell shape (GO:0008360)|substrate-dependent cell migration (GO:0006929)	cell projection (GO:0042995)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|phagocytic vesicle (GO:0045335)|plasma membrane (GO:0005886)	actin filament binding (GO:0051015)|GTPase activating protein binding (GO:0032794)|Rac GTPase binding (GO:0048365)	p.A712S(1)		biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(12)|pancreas(1)|skin(1)|urinary_tract(2)	33						ACTCATTGAGGCCAACCGGGC	0.627																																					GBM(164;1247 1997 8702 11086 51972)	uc002iin.2																			1	Substitution - Missense(1)		lung(1)	pancreas(1)	1						c.(2134-2136)GCC>TCC		formin-like 1							75.0	72.0	73.0					17																	43320608		2203	4300	6503	SO:0001583	missense	752				actin cytoskeleton organization		actin binding|Rho GTPase binding	g.chr17:43320608G>T	AJ008112	CCDS11497.1	17q21.31	2008-05-14	2003-12-02	2003-12-03		ENSG00000184922			1212	protein-coding gene	gene with protein product		604656	"""formin-like"""	C17orf1B, FMNL		9799091	Standard	NM_005892		Approved	C17orf1	uc002iin.3	O95466		ENST00000331495.3:c.2134G>T	17.37:g.43320608G>T	ENSP00000329219:p.Ala712Ser					FMNL1_uc002iiq.2_Missense_Mutation_p.A290S|FMNL1_uc010dag.2_RNA	p.A712S	NM_005892	NP_005883	O95466	FMNL_HUMAN			17	2334	+			712			FH2.		D2DGW2|Q6DKG5|Q6IBP3|Q86UH1|Q8N671|Q8TDH1|Q96H10	Missense_Mutation	SNP	ENST00000331495.3	37	c.2134G>T	CCDS11497.1	.	.	.	.	.	.	.	.	.	.	g	15.21	2.765785	0.49574	.	.	ENSG00000184922	ENST00000328118;ENST00000331495;ENST00000539884	T;T	0.16457	2.34;2.34	4.24	4.24	0.50183	Actin-binding FH2/DRF autoregulatory (1);Actin-binding FH2 (3);	0.243137	0.42420	D	0.000708	T	0.11580	0.0282	N	0.25094	0.71	0.39515	D	0.968417	B	0.32862	0.387	B	0.40982	0.345	T	0.18903	-1.0322	10	0.13470	T	0.59	.	5.5575	0.17125	0.1015:0.0:0.7007:0.1978	.	712	O95466	FMNL_HUMAN	S	712;712;367	ENSP00000327442:A712S;ENSP00000329219:A712S	ENSP00000327442:A712S	A	+	1	0	FMNL1	40676391	1.000000	0.71417	1.000000	0.80357	0.905000	0.53344	0.800000	0.27042	2.359000	0.80004	0.436000	0.28706	GCC		PASS	0.627	FMNL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450198.1	NM_005892		9	190	9	190	---	---	---	---
ACSF2	80221	broad.mit.edu	37	17	48551024	48551024	+	Splice_Site	SNP	A	A	T			TCGA-22-4595-01A-01D-1267-08	TCGA-22-4595-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7fcf5123-2d1b-4666-9d39-a1aaf63cf954	850e8a4d-e0f6-4bd6-80f5-1c20e2b0e4f9	g.chr17:48551024A>T	ENST00000300441.4	+	13	1579		c.e13-1		ACSF2_ENST00000506085.1_Splice_Site|ACSF2_ENST00000427954.2_Splice_Site|ACSF2_ENST00000504392.1_Splice_Site|ACSF2_ENST00000502667.1_Splice_Site|ACSF2_ENST00000541920.1_Splice_Site	NM_025149.4	NP_079425.3	Q96CM8	ACSF2_HUMAN	acyl-CoA synthetase family member 2						fatty acid metabolic process (GO:0006631)	mitochondrion (GO:0005739)	ATP binding (GO:0005524)|ligase activity (GO:0016874)	p.?(1)		endometrium(7)|kidney(3)|large_intestine(1)|lung(1)|stomach(1)	13	Breast(11;1.93e-18)		BRCA - Breast invasive adenocarcinoma(22;1.55e-09)			CTTTCCTTACAGAGATGTCGC	0.512																																						uc002iqu.2																			1	Unknown(1)		lung(1)		0						c.e13-2		acyl-CoA synthetase family member 2 precursor							80.0	75.0	77.0					17																	48551024		2203	4300	6503	SO:0001630	splice_region_variant	80221				fatty acid metabolic process	mitochondrion	ATP binding|ligase activity	g.chr17:48551024A>T	AK024573, BC012053	CCDS11567.1, CCDS74103.1, CCDS74104.1, CCDS74105.1	17q21.33	2007-10-17			ENSG00000167107	ENSG00000167107		"""Acyl-CoA synthetase family"""	26101	protein-coding gene	gene with protein product		610465				17762044	Standard	NM_001288968		Approved	FLJ20920, ACSMW	uc002iqu.2	Q96CM8	OTTHUMG00000162128	ENST00000300441.4:c.1476-1A>T	17.37:g.48551024A>T						ACSF2_uc010wml.1_Splice_Site_p.G449_splice|ACSF2_uc010wmm.1_Splice_Site_p.G517_splice|ACSF2_uc010wmn.1_Splice_Site_p.G479_splice|ACSF2_uc010wmo.1_Splice_Site_p.G332_splice|ACSF2_uc010dbt.1_Splice_Site	p.G492_splice	NM_025149	NP_079425	Q96CM8	ACSF2_HUMAN	BRCA - Breast invasive adenocarcinoma(22;1.55e-09)		13	1580	+	Breast(11;1.93e-18)							B4DFQ6|B4DHT5|B4DUF5|Q9H7G2	Splice_Site	SNP	ENST00000300441.4	37	c.1476_splice	CCDS11567.1	.	.	.	.	.	.	.	.	.	.	A	12.78	2.041740	0.35989	.	.	ENSG00000167107	ENST00000300441;ENST00000541920;ENST00000504392;ENST00000427954;ENST00000502667	.	.	.	4.94	4.94	0.65067	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.5943	0.68395	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	ACSF2	45906023	1.000000	0.71417	0.992000	0.48379	0.217000	0.24651	8.944000	0.92980	1.856000	0.53863	0.402000	0.26972	.		PASS	0.512	ACSF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367423.3	NM_025149	Intron	136	153	136	153	---	---	---	---
DGKE	8526	broad.mit.edu	37	17	54921412	54921412	+	Missense_Mutation	SNP	A	A	T			TCGA-22-4595-01A-01D-1267-08	TCGA-22-4595-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7fcf5123-2d1b-4666-9d39-a1aaf63cf954	850e8a4d-e0f6-4bd6-80f5-1c20e2b0e4f9	g.chr17:54921412A>T	ENST00000284061.3	+	3	677	c.497A>T	c.(496-498)gAg>gTg	p.E166V	DGKE_ENST00000576869.1_3'UTR	NM_003647.2	NP_003638.1	P52429	DGKE_HUMAN	diacylglycerol kinase, epsilon 64kDa	166					blood coagulation (GO:0007596)|intracellular signal transduction (GO:0035556)|phospholipid biosynthetic process (GO:0008654)|platelet activation (GO:0030168)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|diacylglycerol kinase activity (GO:0004143)|metal ion binding (GO:0046872)|NAD+ kinase activity (GO:0003951)	p.E166V(1)		breast(3)|endometrium(3)|large_intestine(3)|lung(10)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	25	Breast(9;3.59e-07)					GTACATGATGAGTGCATGAAA	0.323																																						uc002iur.2																			1	Substitution - Missense(1)		lung(1)	breast(2)	2						c.(496-498)GAG>GTG		diacylglycerol kinase epsilon							68.0	70.0	70.0					17																	54921412		2203	4297	6500	SO:0001583	missense	8526				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|phospholipid biosynthetic process|platelet activation	integral to membrane|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding|protein binding	g.chr17:54921412A>T	U49379	CCDS11590.1	17q22	2008-07-18	2002-08-29			ENSG00000153933	2.7.1.107		2852	protein-coding gene	gene with protein product		601440	"""diacylglycerol kinase, epsilon (64kD)"""			8626589, 10051413	Standard	NM_003647		Approved	DAGK6, DGK	uc002iur.3	P52429		ENST00000284061.3:c.497A>T	17.37:g.54921412A>T	ENSP00000284061:p.Glu166Val					DGKE_uc002ius.1_Missense_Mutation_p.E166V	p.E166V	NM_003647	NP_003638	P52429	DGKE_HUMAN			3	677	+	Breast(9;3.59e-07)		166			Phorbol-ester/DAG-type 2.		Q8TBM4|Q9UKQ3	Missense_Mutation	SNP	ENST00000284061.3	37	c.497A>T	CCDS11590.1	.	.	.	.	.	.	.	.	.	.	A	16.01	3.001725	0.54254	.	.	ENSG00000153933	ENST00000284061	D	0.93488	-3.23	5.57	5.57	0.84162	Protein kinase C-like, phorbol ester/diacylglycerol binding (4);	0.256891	0.43260	D	0.000598	D	0.89396	0.6703	N	0.25485	0.75	0.80722	D	1	B;B	0.17465	0.022;0.022	B;B	0.25759	0.063;0.063	D	0.85628	0.1268	10	0.44086	T	0.13	.	15.7282	0.77780	1.0:0.0:0.0:0.0	.	166;166	A1L4Q0;P52429	.;DGKE_HUMAN	V	166	ENSP00000284061:E166V	ENSP00000284061:E166V	E	+	2	0	DGKE	52276411	1.000000	0.71417	0.967000	0.41034	0.866000	0.49608	8.508000	0.90525	2.113000	0.64589	0.455000	0.32223	GAG		PASS	0.323	DGKE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440601.1	NM_003647		18	83	18	83	---	---	---	---
BCAS3	54828	broad.mit.edu	37	17	58945988	58945988	+	Missense_Mutation	SNP	G	G	C			TCGA-22-4595-01A-01D-1267-08	TCGA-22-4595-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7fcf5123-2d1b-4666-9d39-a1aaf63cf954	850e8a4d-e0f6-4bd6-80f5-1c20e2b0e4f9	g.chr17:58945988G>C	ENST00000390652.5	+	8	559	c.528G>C	c.(526-528)gaG>gaC	p.E176D	BCAS3_ENST00000589222.1_Missense_Mutation_p.E176D|BCAS3_ENST00000588462.1_Missense_Mutation_p.E176D|BCAS3_ENST00000408905.3_Missense_Mutation_p.E176D|BCAS3_ENST00000407086.3_Missense_Mutation_p.E176D	NM_001099432.1	NP_001092902.1			breast carcinoma amplified sequence 3									p.E176D(1)		NS(1)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(24)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44			BRCA - Breast invasive adenocarcinoma(1;3.11e-12)|Epithelial(12;8.2e-07)|all cancers(12;5.33e-06)			GTACTGGGGAGATGGTCAAGT	0.333																																						uc002iyv.3																			1	Substitution - Missense(1)		lung(1)	ovary(2)|central_nervous_system(2)|skin(1)	5						c.(526-528)GAG>GAC		breast carcinoma amplified sequence 3 isoform 1							142.0	131.0	134.0					17																	58945988		1837	4087	5924	SO:0001583	missense	54828					nucleus		g.chr17:58945988G>C	AF361219	CCDS11626.1, CCDS45749.1	17q23.2	2013-06-25			ENSG00000141376	ENSG00000141376		"""WD repeat domain containing"""	14347	protein-coding gene	gene with protein product		607470				12378525	Standard	NM_017679		Approved	FLJ20128	uc002iyv.4	Q9H6U6	OTTHUMG00000180064	ENST00000390652.5:c.528G>C	17.37:g.58945988G>C	ENSP00000375067:p.Glu176Asp					BCAS3_uc010wow.1_Intron|BCAS3_uc002iyu.3_Missense_Mutation_p.E176D|BCAS3_uc002iyw.3_Missense_Mutation_p.E172D	p.E176D	NM_001099432	NP_001092902	Q9H6U6	BCAS3_HUMAN	BRCA - Breast invasive adenocarcinoma(1;3.11e-12)|Epithelial(12;8.2e-07)|all cancers(12;5.33e-06)		8	637	+			176						Missense_Mutation	SNP	ENST00000390652.5	37	c.528G>C	CCDS45749.1	.	.	.	.	.	.	.	.	.	.	G	13.30	2.195280	0.38806	.	.	ENSG00000141376	ENST00000390652;ENST00000407086;ENST00000405070;ENST00000408905	T;T;T	0.09350	2.99;2.99;2.99	5.72	3.7	0.42460	WD40/YVTN repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.17450	0.0419	L	0.39020	1.185	0.80722	D	1	D;B;B	0.61697	0.99;0.176;0.172	D;B;B	0.73380	0.98;0.039;0.048	T	0.11446	-1.0587	10	0.17369	T	0.5	.	7.7935	0.29133	0.3159:0.0:0.6841:0.0	.	176;176;176	Q9H6U6-7;Q9H6U6;Q9H6U6-2	.;BCAS3_HUMAN;.	D	176	ENSP00000375067:E176D;ENSP00000385323:E176D;ENSP00000386173:E176D	ENSP00000375067:E176D	E	+	3	2	BCAS3	56300770	0.999000	0.42202	1.000000	0.80357	0.998000	0.95712	0.608000	0.24223	0.740000	0.32651	0.645000	0.84053	GAG		PASS	0.333	BCAS3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000449578.1	NM_017679		82	75	82	75	---	---	---	---
SCN4A	6329	broad.mit.edu	37	17	62042025	62042025	+	Missense_Mutation	SNP	C	C	T			TCGA-22-4595-01A-01D-1267-08	TCGA-22-4595-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7fcf5123-2d1b-4666-9d39-a1aaf63cf954	850e8a4d-e0f6-4bd6-80f5-1c20e2b0e4f9	g.chr17:62042025C>T	ENST00000435607.1	-	9	1331	c.1255G>A	c.(1255-1257)Gct>Act	p.A419T	SCN4A_ENST00000578147.1_Missense_Mutation_p.A419T	NM_000334.4	NP_000325.4	P35499	SCN4A_HUMAN	sodium channel, voltage-gated, type IV, alpha subunit	419					membrane depolarization during action potential (GO:0086010)|muscle contraction (GO:0006936)|neuronal action potential (GO:0019228)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)	p.A419T(1)		breast(4)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(40)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	101					Diclofenac(DB00586)|Flecainide(DB01195)|Propofol(DB00818)|Valproic Acid(DB00313)|Zonisamide(DB00909)	GTCTTGCCAGCTGCTCGAAGG	0.567																																						uc002jds.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|pancreas(1)|skin(1)	3						c.(1255-1257)GCT>ACT		voltage-gated sodium channel type 4 alpha	Lamotrigine(DB00555)						66.0	67.0	67.0					17																	62042025		2036	4192	6228	SO:0001583	missense	6329				muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr17:62042025C>T	U24693		17q23.3	2012-02-26	2007-01-23					"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10591	protein-coding gene	gene with protein product		603967		HYKPP		1654742, 1659948, 16382098	Standard	XM_005257566		Approved	Nav1.4, HYPP, SkM1	uc002jds.1	P35499		ENST00000435607.1:c.1255G>A	17.37:g.62042025C>T	ENSP00000396320:p.Ala419Thr						p.A419T	NM_000334	NP_000325	P35499	SCN4A_HUMAN			9	1332	-			419			I.		Q15478|Q16447|Q7Z6B1	Missense_Mutation	SNP	ENST00000435607.1	37	c.1255G>A	CCDS45761.1	.	.	.	.	.	.	.	.	.	.	C	26.2	4.717513	0.89205	.	.	ENSG00000007314	ENST00000435607	D	0.97378	-4.36	4.9	4.9	0.64082	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.95636	0.8581	M	0.75884	2.315	0.52501	D	0.999956	P	0.51653	0.947	B	0.36766	0.232	D	0.95970	0.8969	10	0.51188	T	0.08	.	17.2433	0.87021	0.0:1.0:0.0:0.0	.	419	P35499	SCN4A_HUMAN	T	419	ENSP00000396320:A419T	ENSP00000396320:A419T	A	-	1	0	SCN4A	59395757	1.000000	0.71417	0.959000	0.39883	0.994000	0.84299	7.645000	0.83430	2.533000	0.85409	0.457000	0.33378	GCT		PASS	0.567	SCN4A-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_000334		9	41	9	41	---	---	---	---
RHBDF2	79651	broad.mit.edu	37	17	74475058	74475058	+	Missense_Mutation	SNP	G	G	A	rs373646969		TCGA-22-4595-01A-01D-1267-08	TCGA-22-4595-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7fcf5123-2d1b-4666-9d39-a1aaf63cf954	850e8a4d-e0f6-4bd6-80f5-1c20e2b0e4f9	g.chr17:74475058G>A	ENST00000313080.4	-	6	862	c.589C>T	c.(589-591)Cgc>Tgc	p.R197C	RHBDF2_ENST00000591885.1_Missense_Mutation_p.R168C|RHBDF2_ENST00000389760.4_Missense_Mutation_p.R168C|RHBDF2_ENST00000592378.1_5'Flank	NM_024599.5	NP_078875.4	Q6PJF5	RHDF2_HUMAN	rhomboid 5 homolog 2 (Drosophila)	197					negative regulation of protein secretion (GO:0050709)|protein transport (GO:0015031)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	serine-type endopeptidase activity (GO:0004252)	p.R197C(1)		cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(4)|skin(1)	27						TCCGGGTGGCGGAAGGCCCGG	0.682																																						uc002jrq.1																			1	Substitution - Missense(1)		lung(1)		0						c.(589-591)CGC>TGC		rhomboid, veinlet-like 6 isoform 1		G	CYS/ARG,CYS/ARG	0,4402		0,0,2201	25.0	29.0	28.0		502,589	5.6	1.0	17		28	1,8595	1.2+/-3.3	0,1,4297	no	missense,missense	RHBDF2	NM_001005498.3,NM_024599.5	180,180	0,1,6498	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging,probably-damaging	168/828,197/857	74475058	1,12997	2201	4298	6499	SO:0001583	missense	79651				negative regulation of protein secretion|protein transport|proteolysis	endoplasmic reticulum membrane|integral to membrane	growth factor binding|serine-type endopeptidase activity	g.chr17:74475058G>A	BC016034	CCDS32743.1, CCDS32744.1	17q25.3	2014-09-17	2006-02-22	2006-02-22		ENSG00000129667			20788	protein-coding gene	gene with protein product		614404	"""rhomboid, veinlet-like 6 (Drosophila)"", ""tylosis with oesophageal cancer"""	RHBDL6, TOC		12838346, 22265016	Standard	NM_024599		Approved	FLJ22341, RHBDL5, TOCG	uc002jrq.2	Q6PJF5		ENST00000313080.4:c.589C>T	17.37:g.74475058G>A	ENSP00000322775:p.Arg197Cys					RHBDF2_uc002jrp.1_Missense_Mutation_p.R168C|RHBDF2_uc002jrr.1_Missense_Mutation_p.R49C|RHBDF2_uc010wtf.1_Missense_Mutation_p.R168C|RHBDF2_uc002jrs.1_Missense_Mutation_p.R192C	p.R197C	NM_024599	NP_078875	Q6PJF5	RHDF2_HUMAN			6	882	-			197			Cytoplasmic (Potential).		A6NEM3|A8K801|Q5U607|Q5YGQ8|Q9H6E9	Missense_Mutation	SNP	ENST00000313080.4	37	c.589C>T	CCDS32743.1	.	.	.	.	.	.	.	.	.	.	G	26.9	4.779090	0.90195	0.0	1.16E-4	ENSG00000129667	ENST00000313080;ENST00000389760;ENST00000389762	T;T	0.72505	-0.66;-0.66	5.55	5.55	0.83447	.	0.000000	0.85682	D	0.000000	D	0.84325	0.5447	M	0.69823	2.125	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.999;1.0;1.0;1.0	D	0.85345	0.1098	10	0.72032	D	0.01	-43.0444	19.4888	0.95042	0.0:0.0:1.0:0.0	.	168;143;197;168	B7Z8H4;Q6ZWP8;Q6PJF5;Q6PJF5-2	.;.;RHDF2_HUMAN;.	C	197;168;143	ENSP00000322775:R197C;ENSP00000374410:R168C	ENSP00000322775:R197C	R	-	1	0	RHBDF2	71986653	1.000000	0.71417	1.000000	0.80357	0.627000	0.37826	9.837000	0.99465	2.605000	0.88082	0.455000	0.32223	CGC		PASS	0.682	RHBDF2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000450134.1	NM_024599		24	42	24	42	---	---	---	---
MXRA7	439921	broad.mit.edu	37	17	74681218	74681218	+	Missense_Mutation	SNP	C	C	A			TCGA-22-4595-01A-01D-1267-08	TCGA-22-4595-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7fcf5123-2d1b-4666-9d39-a1aaf63cf954	850e8a4d-e0f6-4bd6-80f5-1c20e2b0e4f9	g.chr17:74681218C>A	ENST00000355797.3	-	3	444	c.436G>T	c.(436-438)Ggg>Tgg	p.G146W	MXRA7_ENST00000375036.2_Missense_Mutation_p.G146W|MXRA7_ENST00000588114.1_5'UTR|MXRA7_ENST00000592148.1_Missense_Mutation_p.G189W|MXRA7_ENST00000449428.2_Missense_Mutation_p.G146W|MXRA7_ENST00000589082.1_5'UTR|MXRA7_ENST00000585519.1_5'UTR	NM_001008528.1	NP_001008528.1	P84157	MXRA7_HUMAN	matrix-remodelling associated 7	146						integral component of membrane (GO:0016021)		p.G146W(1)		kidney(1)|large_intestine(2)|lung(2)|skin(1)	6						CTCAGCTTCCCGGGGCTGTAT	0.617																																						uc002jsk.1																			1	Substitution - Missense(1)		lung(1)		0						c.(436-438)GGG>TGG		transmembrane anchor protein 1 isoform 1							139.0	132.0	134.0					17																	74681218		2203	4300	6503	SO:0001583	missense	439921					integral to membrane		g.chr17:74681218C>A	BC053983	CCDS32745.1, CCDS32746.1, CCDS45786.1	17q25.1	2007-08-01				ENSG00000182534			7541	protein-coding gene	gene with protein product							Standard	XM_005257382		Approved	FLJ46603, TMAP1, PS1TP1	uc002jsk.1	P84157		ENST00000355797.3:c.436G>T	17.37:g.74681218C>A	ENSP00000348050:p.Gly146Trp					MXRA7_uc002jsl.2_Missense_Mutation_p.G146W|MXRA7_uc002jsm.2_Missense_Mutation_p.G146W	p.G146W	NM_001008528	NP_001008528	P84157	MXRA7_HUMAN			3	464	-			146					Q0P5W3	Missense_Mutation	SNP	ENST00000355797.3	37	c.436G>T	CCDS32745.1	.	.	.	.	.	.	.	.	.	.	C	13.27	2.186426	0.38609	.	.	ENSG00000182534	ENST00000355797;ENST00000449428;ENST00000375036;ENST00000392488	T;T;T	0.55930	0.49;0.49;0.49	5.27	5.27	0.74061	.	0.000000	0.85682	D	0.000000	T	0.72260	0.3438	M	0.69358	2.11	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	T	0.75213	-0.3397	10	0.87932	D	0	-39.4042	18.4903	0.90844	0.0:1.0:0.0:0.0	.	146;146;146	P84157-2;P84157-3;P84157	.;.;MXRA7_HUMAN	W	146	ENSP00000348050:G146W;ENSP00000391466:G146W;ENSP00000364176:G146W	ENSP00000348050:G146W	G	-	1	0	MXRA7	72192813	1.000000	0.71417	0.948000	0.38648	0.882000	0.50991	6.191000	0.72063	2.468000	0.83385	0.462000	0.41574	GGG		PASS	0.617	MXRA7-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000450983.1	NM_001008529		7	678	7	678	---	---	---	---
BAIAP2	10458	broad.mit.edu	37	17	79082295	79082295	+	Silent	SNP	G	G	A	rs199796336		TCGA-22-4595-01A-01D-1267-08	TCGA-22-4595-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7fcf5123-2d1b-4666-9d39-a1aaf63cf954	850e8a4d-e0f6-4bd6-80f5-1c20e2b0e4f9	g.chr17:79082295G>A	ENST00000321300.6	+	13	1614	c.1521G>A	c.(1519-1521)gcG>gcA	p.A507A	BAIAP2_ENST00000321280.7_Silent_p.A507A|BAIAP2_ENST00000416299.2_Silent_p.A370A|BAIAP2_ENST00000435091.3_Silent_p.A507A|BAIAP2_ENST00000575712.1_Silent_p.A507A|BAIAP2_ENST00000428708.2_Silent_p.A507A|BAIAP2_ENST00000575245.1_Silent_p.A540A|BAIAP2_ENST00000392411.3_Silent_p.A429A	NM_001144888.1|NM_017451.2	NP_001138360.1|NP_059345.1	Q9UQB8	BAIP2_HUMAN	BAI1-associated protein 2	507					actin crosslink formation (GO:0051764)|actin filament bundle assembly (GO:0051017)|axonogenesis (GO:0007409)|dendrite development (GO:0016358)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|filopodium assembly (GO:0046847)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cell shape (GO:0008360)|regulation of synaptic plasticity (GO:0048167)|response to bacterium (GO:0009617)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	cytoskeletal adaptor activity (GO:0008093)|identical protein binding (GO:0042802)|proline-rich region binding (GO:0070064)|protein C-terminus binding (GO:0008022)	p.A507A(2)		breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(6)|skin(1)	18	all_neural(118;0.101)		BRCA - Breast invasive adenocarcinoma(99;0.0228)|OV - Ovarian serous cystadenocarcinoma(97;0.0524)			ACTATGGAGCGCGGTCCATGA	0.652																																						uc002jzg.2																			2	Substitution - coding silent(2)		lung(2)		0						c.(1519-1521)GCG>GCA		BAI1-associated protein 2 isoform 2		G	,,,	1,4405	2.1+/-5.4	0,1,2202	80.0	77.0	78.0		1521,1521,1521,1521	-7.5	0.0	17		78	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	BAIAP2	NM_001144888.1,NM_006340.2,NM_017450.2,NM_017451.2	,,,	0,2,6501	AA,AG,GG		0.0116,0.0227,0.0154	,,,	507/535,507/521,507/522,507/553	79082295	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	10458				axonogenesis|filopodium assembly|insulin receptor signaling pathway|regulation of actin cytoskeleton organization|response to bacterium	cell junction|cytoskeleton|cytosol|filopodium|nucleus|ruffle	cytoskeletal adaptor activity|proline-rich region binding|protein C-terminus binding|SH3 domain binding	g.chr17:79082295G>A	AB015019	CCDS11775.1, CCDS11776.1, CCDS11777.1, CCDS45806.1	17q25.3	2014-09-11			ENSG00000175866				947	protein-coding gene	gene with protein product		605475				10343108	Standard	NM_017451		Approved	BAP2	uc002jzg.2	Q9UQB8	OTTHUMG00000177698	ENST00000321300.6:c.1521G>A	17.37:g.79082295G>A						BAIAP2_uc002jyz.3_Silent_p.A507A|BAIAP2_uc002jza.2_Silent_p.A507A|BAIAP2_uc002jzc.2_Silent_p.A508A|BAIAP2_uc002jzb.2_Silent_p.A264A|BAIAP2_uc002jzd.2_Silent_p.A507A|BAIAP2_uc002jzf.2_Silent_p.A507A|BAIAP2_uc002jze.2_Silent_p.A540A|BAIAP2_uc010wuh.1_Silent_p.A429A|BAIAP2_uc002jzh.2_Silent_p.A508A|BAIAP2_uc010wui.1_Silent_p.A370A	p.A507A	NM_017451	NP_059345	Q9UQB8	BAIP2_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0228)|OV - Ovarian serous cystadenocarcinoma(97;0.0524)		13	1629	+	all_neural(118;0.101)		507					O43858|Q53HB1|Q86WC1|Q8N5C0|Q96CR7|Q9UBR3|Q9UQ43	Silent	SNP	ENST00000321300.6	37	c.1521G>A	CCDS11775.1																																																																																				PASS	0.652	BAIAP2-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000438553.1			23	145	23	145	---	---	---	---
NDC80	10403	broad.mit.edu	37	18	2585114	2585114	+	Silent	SNP	A	A	T			TCGA-22-4595-01A-01D-1267-08	TCGA-22-4595-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7fcf5123-2d1b-4666-9d39-a1aaf63cf954	850e8a4d-e0f6-4bd6-80f5-1c20e2b0e4f9	g.chr18:2585114A>T	ENST00000261597.4	+	7	764	c.582A>T	c.(580-582)atA>atT	p.I194I		NM_006101.2	NP_006092.1	O14777	NDC80_HUMAN	NDC80 kinetochore complex component	194	Interaction with RB1.|Interaction with the N-terminus of CDCA1.|Nuclear localization.				attachment of spindle microtubules to kinetochore (GO:0008608)|chromosome segregation (GO:0007059)|establishment of mitotic spindle orientation (GO:0000132)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic sister chromatid segregation (GO:0000070)|mitotic spindle organization (GO:0007052)	chromosome, centromeric region (GO:0000775)|condensed chromosome kinetochore (GO:0000777)|condensed nuclear chromosome outer kinetochore (GO:0000942)|cytosol (GO:0005829)|kinetochore (GO:0000776)|membrane (GO:0016020)|Ndc80 complex (GO:0031262)|nucleus (GO:0005634)		p.I194I(1)		NS(1)|biliary_tract(2)|breast(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(2)|urinary_tract(2)	22						CTAATTAGATACATACTGCCA	0.338																																						uc002kli.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(580-582)ATA>ATT		kinetochore associated 2							87.0	84.0	85.0					18																	2585114		2203	4300	6503	SO:0001819	synonymous_variant	10403				attachment of spindle microtubules to kinetochore|cell division|establishment of mitotic spindle orientation|mitotic prometaphase|mitotic sister chromatid segregation|mitotic spindle organization|phosphatidylinositol-mediated signaling	condensed nuclear chromosome outer kinetochore|cytosol|Ndc80 complex	protein binding	g.chr18:2585114A>T	AF017790	CCDS11827.1	18p11.31	2013-01-17	2013-01-17	2007-03-02	ENSG00000080986	ENSG00000080986			16909	protein-coding gene	gene with protein product		607272	"""highly expressed in cancer, rich in leucine heptad repeats (yeast)"", ""kinetochore associated 2"", ""NDC80 kinetochore complex component homolog (S. cerevisiae)"""	KNTC2		9315664, 12351790	Standard	NM_006101		Approved	HEC, HEC1, hsNDC80, TID3	uc002kli.3	O14777	OTTHUMG00000131483	ENST00000261597.4:c.582A>T	18.37:g.2585114A>T							p.I194I	NM_006101	NP_006092	O14777	NDC80_HUMAN			7	764	+			194			Interaction with the N-terminus of CDCA1.|Nuclear localization.|Interaction with RB1.		Q6PJX2	Silent	SNP	ENST00000261597.4	37	c.582A>T	CCDS11827.1																																																																																				PASS	0.338	NDC80-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254327.1	NM_006101		46	119	46	119	---	---	---	---
DSG1	1828	broad.mit.edu	37	18	28913574	28913574	+	Missense_Mutation	SNP	C	C	A			TCGA-22-4595-01A-01D-1267-08	TCGA-22-4595-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7fcf5123-2d1b-4666-9d39-a1aaf63cf954	850e8a4d-e0f6-4bd6-80f5-1c20e2b0e4f9	g.chr18:28913574C>A	ENST00000257192.4	+	7	919	c.707C>A	c.(706-708)gCt>gAt	p.A236D		NM_001942.2	NP_001933.2	Q02413	DSG1_HUMAN	desmoglein 1	236	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				apoptotic process (GO:0006915)|calcium-dependent cell-cell adhesion (GO:0016339)|cell-cell junction assembly (GO:0007043)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|homophilic cell adhesion (GO:0007156)|maternal process involved in female pregnancy (GO:0060135)|protein stabilization (GO:0050821)|response to progesterone (GO:0032570)|single organismal cell-cell adhesion (GO:0016337)	apical plasma membrane (GO:0016324)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lateral plasma membrane (GO:0016328)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|gamma-catenin binding (GO:0045295)|toxic substance binding (GO:0015643)	p.A236D(1)		NS(2)|central_nervous_system(2)|endometrium(5)|kidney(7)|large_intestine(11)|lung(36)|ovary(3)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)	76			OV - Ovarian serous cystadenocarcinoma(10;0.00559)			TATGCTCTTGCTGTAAGAGGC	0.413																																						uc002kwp.2																			1	Substitution - Missense(1)		lung(1)	skin(3)|ovary(2)|central_nervous_system(2)	7						c.(706-708)GCT>GAT		desmoglein 1 preproprotein							125.0	113.0	117.0					18																	28913574		2203	4300	6503	SO:0001583	missense	1828				calcium-dependent cell-cell adhesion|cell-cell junction assembly|cellular component disassembly involved in apoptosis|homophilic cell adhesion|protein stabilization	cytosol|desmosome|integral to membrane|internal side of plasma membrane	calcium ion binding|gamma-catenin binding|toxin binding	g.chr18:28913574C>A	X56654	CCDS11896.1	18q12.1	2014-05-13			ENSG00000134760	ENSG00000134760		"""Cadherins / Major cadherins"""	3048	protein-coding gene	gene with protein product		125670		DSG		1889810	Standard	NM_001942		Approved	CDHF4	uc002kwp.3	Q02413	OTTHUMG00000131983	ENST00000257192.4:c.707C>A	18.37:g.28913574C>A	ENSP00000257192:p.Ala236Asp						p.A236D	NM_001942	NP_001933	Q02413	DSG1_HUMAN	OV - Ovarian serous cystadenocarcinoma(10;0.00559)		7	919	+			236			Extracellular (Potential).|Cadherin 2.		B7Z845	Missense_Mutation	SNP	ENST00000257192.4	37	c.707C>A	CCDS11896.1	.	.	.	.	.	.	.	.	.	.	C	15.46	2.838708	0.51057	.	.	ENSG00000134760	ENST00000257192	T	0.52057	0.68	5.82	1.48	0.22813	Cadherin (5);Cadherin-like (1);	0.199424	0.34777	N	0.003694	T	0.29620	0.0739	N	0.02539	-0.55	0.80722	D	1	P	0.47350	0.894	P	0.52454	0.699	T	0.24083	-1.0170	10	0.87932	D	0	.	6.8619	0.24072	0.0:0.3537:0.0:0.6463	.	236	Q02413	DSG1_HUMAN	D	236	ENSP00000257192:A236D	ENSP00000257192:A236D	A	+	2	0	DSG1	27167572	0.986000	0.35501	0.990000	0.47175	0.204000	0.24138	0.658000	0.24979	0.364000	0.24374	-0.140000	0.14226	GCT		PASS	0.413	DSG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254947.1	NM_001942		19	102	19	102	---	---	---	---
ELANE	1991	broad.mit.edu	37	19	855689	855689	+	Silent	SNP	G	G	A	rs200050022		TCGA-22-4595-01A-01D-1267-08	TCGA-22-4595-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7fcf5123-2d1b-4666-9d39-a1aaf63cf954	850e8a4d-e0f6-4bd6-80f5-1c20e2b0e4f9	g.chr19:855689G>A	ENST00000590230.1	+	5	633	c.492G>A	c.(490-492)ggG>ggA	p.G164G	ELANE_ENST00000263621.1_Silent_p.G164G			P08246	ELNE_HUMAN	elastase, neutrophil expressed	164	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				acute inflammatory response to antigenic stimulus (GO:0002438)|cellular calcium ion homeostasis (GO:0006874)|collagen catabolic process (GO:0030574)|defense response to bacterium (GO:0042742)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|leukocyte migration (GO:0050900)|negative regulation of chemokine biosynthetic process (GO:0045079)|negative regulation of chemotaxis (GO:0050922)|negative regulation of growth of symbiont in host (GO:0044130)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-8 biosynthetic process (GO:0045415)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neutrophil mediated killing of fungus (GO:0070947)|phagocytosis (GO:0006909)|positive regulation of immune response (GO:0050778)|positive regulation of interleukin-8 biosynthetic process (GO:0045416)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of smooth muscle cell proliferation (GO:0048661)|protein catabolic process (GO:0030163)|proteolysis (GO:0006508)|response to lipopolysaccharide (GO:0032496)|response to UV (GO:0009411)|response to yeast (GO:0001878)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|secretory granule (GO:0030141)|transcriptional repressor complex (GO:0017053)	cytokine binding (GO:0019955)|endopeptidase activity (GO:0004175)|heparin binding (GO:0008201)|peptidase activity (GO:0008233)|protease binding (GO:0002020)|RNA polymerase II transcription corepressor activity (GO:0001106)|serine-type endopeptidase activity (GO:0004252)	p.G164G(1)		breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(1)|lung(4)|pancreas(1)	13					Alpha-1-proteinase inhibitor(DB00058)|Filgrastim(DB00099)|Pegfilgrastim(DB00019)	GGAACCGTGGGATCGCCAGCG	0.706																																						uc002lqb.2																			1	Substitution - coding silent(1)		lung(1)	pancreas(1)	1						c.(490-492)GGG>GGA		neutrophil elastase preproprotein	Alpha-1-proteinase inhibitor(DB00058)|Filgrastim(DB00099)|Pegfilgrastim(DB00019)						78.0	72.0	74.0					19																	855689		2203	4299	6502	SO:0001819	synonymous_variant	1991	Kostmann_syndrome			cellular calcium ion homeostasis|negative regulation of chemokine biosynthetic process|negative regulation of chemotaxis|negative regulation of inflammatory response|negative regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 biosynthetic process|positive regulation of MAP kinase activity|positive regulation of smooth muscle cell proliferation|protein catabolic process|proteolysis|response to UV	cell surface|extracellular region|stored secretory granule	bacterial cell surface binding|cytokine binding|heparin binding	g.chr19:855689G>A		CCDS12045.1	19p13.3	2014-09-17	2009-05-05	2009-05-05	ENSG00000197561	ENSG00000197561	3.4.21.37		3309	protein-coding gene	gene with protein product	"""neutrophil elastase"", ""leukocyte elastase"", ""medullasin"""	130130	"""elastase 2, neutrophil"""	ELA2		2902087	Standard	XM_005259517		Approved	NE, HNE, HLE	uc002lqb.3	P08246		ENST00000590230.1:c.492G>A	19.37:g.855689G>A							p.G164G	NM_001972	NP_001963	P08246	ELNE_HUMAN			4	530	+			164			Peptidase S1.		P09649|Q6B0D9|Q6LDP5	Silent	SNP	ENST00000590230.1	37	c.492G>A	CCDS12045.1																																																																																				PASS	0.706	ELANE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457890.2	NM_001972		42	138	42	138	---	---	---	---
ATP8B3	148229	broad.mit.edu	37	19	1791762	1791762	+	Silent	SNP	G	G	T	rs577773741		TCGA-22-4595-01A-01D-1267-08	TCGA-22-4595-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7fcf5123-2d1b-4666-9d39-a1aaf63cf954	850e8a4d-e0f6-4bd6-80f5-1c20e2b0e4f9	g.chr19:1791762G>T	ENST00000310127.6	-	20	2527	c.2289C>A	c.(2287-2289)acC>acA	p.T763T	ATP8B3_ENST00000525591.1_Silent_p.T726T|ATP8B3_ENST00000539485.1_Silent_p.T773T	NM_138813.3	NP_620168.1	O60423	AT8B3_HUMAN	ATPase, aminophospholipid transporter, class I, type 8B, member 3	763					binding of sperm to zona pellucida (GO:0007339)	acrosomal vesicle (GO:0001669)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)	p.T773T(1)		central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(9)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	23		Hepatocellular(1079;0.137)		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)		GCTTGTCCCCGGTGAGCACCC	0.562																																						uc002ltw.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(2287-2289)ACC>ACA		ATPase, class I, type 8B, member 3							65.0	64.0	64.0					19																	1791762		1954	4135	6089	SO:0001819	synonymous_variant	148229				ATP biosynthetic process		ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr19:1791762G>T	AA827939	CCDS45901.1, CCDS54196.1	19p13.3	2010-04-28	2010-04-28		ENSG00000130270	ENSG00000130270		"""ATPases / P-type"""	13535	protein-coding gene	gene with protein product	"""aminophospholipid translocase ATP8B3"", ""potential phospholipid-transporting ATPase IK"""	605866	"""ATPase, Class I, type 8B, member 3"", ""ATPase, class I, type 8B, member 3"""			11015572	Standard	NM_138813		Approved	ATPIK	uc002ltw.4	O60423	OTTHUMG00000166189	ENST00000310127.6:c.2289C>A	19.37:g.1791762G>T						ATP8B3_uc002ltv.2_Silent_p.T726T|ATP8B3_uc002ltx.2_RNA	p.T763T	NM_138813	NP_620168	O60423	AT8B3_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)	20	2523	-		Hepatocellular(1079;0.137)	763			Cytoplasmic (Potential).		Q7Z485|Q8IVB8|Q8N4Y8|Q96M22	Silent	SNP	ENST00000310127.6	37	c.2289C>A	CCDS45901.1																																																																																				PASS	0.562	ATP8B3-002	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000388279.1	NM_138813		3	47	3	47	---	---	---	---
MATK	4145	broad.mit.edu	37	19	3778537	3778537	+	Missense_Mutation	SNP	G	G	C			TCGA-22-4595-01A-01D-1267-08	TCGA-22-4595-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7fcf5123-2d1b-4666-9d39-a1aaf63cf954	850e8a4d-e0f6-4bd6-80f5-1c20e2b0e4f9	g.chr19:3778537G>C	ENST00000310132.6	-	13	1652	c.1254C>G	c.(1252-1254)ttC>ttG	p.F418L	MATK_ENST00000395045.2_Missense_Mutation_p.F419L|MATK_ENST00000395040.2_Missense_Mutation_p.F377L|MATK_ENST00000585778.1_Missense_Mutation_p.F417L	NM_139355.2	NP_647612.1	P42679	MATK_HUMAN	megakaryocyte-associated tyrosine kinase	418	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell proliferation (GO:0008283)|mesoderm development (GO:0007498)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cell proliferation (GO:0008284)|protein phosphorylation (GO:0006468)	cytosol (GO:0005829)|membrane (GO:0016020)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)	p.F418L(1)|p.F419L(1)		central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)|skin(2)|stomach(2)|urinary_tract(1)	26		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|STAD - Stomach adenocarcinoma(1328;0.18)		GTCCATATGAGAAGACCTCCC	0.632																																						uc002lyt.2																			2	Substitution - Missense(2)		lung(2)	stomach(2)|ovary(1)|lung(1)|large_intestine(1)	5						c.(1252-1254)TTC>TTG		megakaryocyte-associated tyrosine kinase isoform							62.0	67.0	65.0					19																	3778537		2203	4299	6502	SO:0001583	missense	4145				cell proliferation|mesoderm development|positive regulation of cell proliferation	cytoplasm|nucleus	ATP binding|non-membrane spanning protein tyrosine kinase activity	g.chr19:3778537G>C	L18974	CCDS12113.1, CCDS12114.1, CCDS42468.1	19p13.3	2013-02-14						"""SH2 domain containing"""	6906	protein-coding gene	gene with protein product	"""Csk-homologous kinase"", ""tyrosine-protein kinase CTK"", ""protein kinase HYL"", ""hematopoietic consensus tyrosine-lacking kinase"", ""tyrosylprotein kinase"", ""hydroxyaryl-protein kinase"", ""Csk-type protein tyrosine kinase"", ""HYL tyrosine kinase"", ""tyrosine kinase MATK"", ""leukocyte carboxyl-terminal src kinase related"""	600038				8288563, 7530249	Standard	NM_139355		Approved	HYLTK, CTK, HYL, Lsk, CHK, HHYLTK, DKFZp434N1212, MGC1708, MGC2101	uc002lyt.3	P42679		ENST00000310132.6:c.1254C>G	19.37:g.3778537G>C	ENSP00000308734:p.Phe418Leu					MATK_uc002lyv.2_Missense_Mutation_p.F419L|MATK_uc002lyu.2_Missense_Mutation_p.F377L|MATK_uc010dtq.2_Missense_Mutation_p.F417L	p.F418L	NM_139355	NP_647612	P42679	MATK_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|STAD - Stomach adenocarcinoma(1328;0.18)	13	1654	-		Hepatocellular(1079;0.137)	418			Protein kinase.		B3KNZ9|Q9NST8	Missense_Mutation	SNP	ENST00000310132.6	37	c.1254C>G	CCDS12114.1	.	.	.	.	.	.	.	.	.	.	G	19.16	3.774275	0.69992	.	.	ENSG00000007264	ENST00000395045;ENST00000310132;ENST00000395040	D;D;D	0.83075	-1.68;-1.68;-1.68	3.74	2.69	0.31865	Serine-threonine/tyrosine-protein kinase (2);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.75752	0.3892	N	0.16201	0.385	0.49130	D	0.999759	D;D;D	0.61080	0.989;0.989;0.989	P;P;P	0.54499	0.754;0.754;0.754	T	0.75399	-0.3331	10	0.72032	D	0.01	-30.1861	6.9175	0.24367	0.3012:0.0:0.6988:0.0	.	418;419;418	F1T0G6;B3KNZ9;P42679	.;.;MATK_HUMAN	L	419;418;377	ENSP00000378485:F419L;ENSP00000308734:F418L;ENSP00000378481:F377L	ENSP00000308734:F418L	F	-	3	2	MATK	3729537	1.000000	0.71417	0.994000	0.49952	0.819000	0.46315	3.389000	0.52516	0.794000	0.33899	0.543000	0.68304	TTC		PASS	0.632	MATK-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000453639.1	NM_139355		12	39	12	39	---	---	---	---
FEM1A	55527	broad.mit.edu	37	19	4793666	4793666	+	Silent	SNP	G	G	C			TCGA-22-4595-01A-01D-1267-08	TCGA-22-4595-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7fcf5123-2d1b-4666-9d39-a1aaf63cf954	850e8a4d-e0f6-4bd6-80f5-1c20e2b0e4f9	g.chr19:4793666G>C	ENST00000269856.3	+	1	1939	c.1800G>C	c.(1798-1800)ctG>ctC	p.L600L	AC005523.2_ENST00000596170.1_RNA|AC005523.3_ENST00000598782.1_lincRNA|AC005523.2_ENST00000601192.1_RNA	NM_018708.2	NP_061178.1	Q9BSK4	FEM1A_HUMAN	fem-1 homolog a (C. elegans)	600					negative regulation of inflammatory response (GO:0050728)|regulation of ubiquitin-protein transferase activity (GO:0051438)	cytoplasm (GO:0005737)	EP4 subtype prostaglandin E2 receptor binding (GO:0031867)|ubiquitin-protein transferase activity (GO:0004842)	p.L600L(1)		breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	17		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0139)		TGAATGCCCTGATCGAAGCAG	0.612																																						uc002mbf.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(1798-1800)CTG>CTC		fem-1 homolog a							64.0	57.0	59.0					19																	4793666		2203	4300	6503	SO:0001819	synonymous_variant	55527				regulation of ubiquitin-protein ligase activity	cytoplasm	binding|ubiquitin-protein ligase activity	g.chr19:4793666G>C	BC004988	CCDS12135.1	19p13.3	2013-01-10	2006-11-08		ENSG00000141965	ENSG00000141965		"""Ankyrin repeat domain containing"""	16934	protein-coding gene	gene with protein product		613538				11441184	Standard	NM_018708		Approved		uc002mbf.3	Q9BSK4		ENST00000269856.3:c.1800G>C	19.37:g.4793666G>C						uc002mbg.1_RNA	p.L600L	NM_018708	NP_061178	Q9BSK4	FEM1A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0139)	1	1939	+		Hepatocellular(1079;0.137)	600			ANK 9.		B2RDI3|Q711P8|Q9NPN7|Q9NPW8	Silent	SNP	ENST00000269856.3	37	c.1800G>C	CCDS12135.1																																																																																				PASS	0.612	FEM1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459000.1			26	80	26	80	---	---	---	---
CATSPERD	257062	broad.mit.edu	37	19	5778597	5778597	+	Silent	SNP	C	C	T	rs2305926	byFrequency	TCGA-22-4595-01A-01D-1267-08	TCGA-22-4595-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7fcf5123-2d1b-4666-9d39-a1aaf63cf954	850e8a4d-e0f6-4bd6-80f5-1c20e2b0e4f9	g.chr19:5778597C>T	ENST00000381624.3	+	22	2368	c.2307C>T	c.(2305-2307)gtC>gtT	p.V769V	CATSPERD_ENST00000309164.7_3'UTR	NM_152784.3	NP_689997.3	Q86XM0	CTSRD_HUMAN	catsper channel auxiliary subunit delta	769					multicellular organism reproduction (GO:0032504)|multicellular organismal development (GO:0007275)|single fertilization (GO:0007338)|sperm capacitation (GO:0048240)|sperm motility (GO:0030317)|sperm-egg recognition (GO:0035036)|spermatogenesis (GO:0007283)	CatSper complex (GO:0036128)|plasma membrane (GO:0005886)|sperm principal piece (GO:0097228)		p.V769V(1)									GCAAGACGGTCTGCCAGTTCA	0.652																																						uc002mda.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|central_nervous_system(1)|pancreas(1)	3						c.(2305-2307)GTC>GTT		transmembrane protein 146 precursor							55.0	63.0	60.0					19																	5778597		2142	4230	6372	SO:0001819	synonymous_variant	257062					integral to membrane		g.chr19:5778597C>T	BC043005	CCDS12149.2	19p13.3	2013-10-11	2012-02-22	2012-02-22	ENSG00000174898	ENSG00000174898			28598	protein-coding gene	gene with protein product			"""transmembrane protein 146"""	TMEM146		21224844	Standard	NM_152784		Approved	MGC39581	uc002mda.3	Q86XM0	OTTHUMG00000143036	ENST00000381624.3:c.2307C>T	19.37:g.5778597C>T							p.V769V	NM_152784	NP_689997	Q86XM0	TM146_HUMAN			22	2368	+			769			Cytoplasmic (Potential).		Q6ZRP1	Silent	SNP	ENST00000381624.3	37	c.2307C>T	CCDS12149.2																																																																																				PASS	0.652	CATSPERD-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000286953.2	NM_152784		53	137	53	137	---	---	---	---
TUBB4A	10382	broad.mit.edu	37	19	6495267	6495267	+	Missense_Mutation	SNP	T	T	A			TCGA-22-4595-01A-01D-1267-08	TCGA-22-4595-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7fcf5123-2d1b-4666-9d39-a1aaf63cf954	850e8a4d-e0f6-4bd6-80f5-1c20e2b0e4f9	g.chr19:6495267T>A	ENST00000264071.2	-	4	1614	c.1243A>T	c.(1243-1245)Atg>Ttg	p.M415L	CTD-2396E7.9_ENST00000599292.1_RNA|TUBB4A_ENST00000540257.1_Missense_Mutation_p.M415L|CTD-2396E7.10_ENST00000596027.1_RNA			P04350	TBB4A_HUMAN	tubulin, beta 4A class IVa	415					'de novo' posttranslational protein folding (GO:0051084)|cellular protein metabolic process (GO:0044267)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule-based process (GO:0007017)|mitotic cell cycle (GO:0000278)|protein folding (GO:0006457)|protein polymerization (GO:0051258)	cilium (GO:0005929)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|internode region of axon (GO:0033269)|microtubule (GO:0005874)|myelin sheath (GO:0043209)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)	p.M415L(1)									AGGTCATTCATGTTGCTCTCG	0.632																																						uc002mfg.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(1243-1245)ATG>TTG		tubulin, beta 4							121.0	108.0	112.0					19																	6495267		2203	4300	6503	SO:0001583	missense	10382				'de novo' posttranslational protein folding|G2/M transition of mitotic cell cycle|microtubule-based movement|protein polymerization	cytosol|microtubule	GTP binding|GTPase activity|protein binding|structural molecule activity	g.chr19:6495267T>A	AK075307	CCDS12168.1	19p13.3	2014-02-05	2011-10-11	2011-10-10	ENSG00000104833	ENSG00000104833		"""Tubulins"""	20774	protein-coding gene	gene with protein product	"""class IVa beta-tubulin"""	602662	"""tubulin, beta 4"", ""tubulin, beta 4 class IVa"", ""dystonia 4, torsion (autosomal dominant)"""	TUBB4, DYT4		6865944, 6462917, 23595291	Standard	NM_001289123		Approved	beta-5	uc002mfg.1	P04350		ENST00000264071.2:c.1243A>T	19.37:g.6495267T>A	ENSP00000264071:p.Met415Leu					TUBB4_uc002mff.1_Missense_Mutation_p.M343L|MIR220B_hsa-mir-220b|MI0005529_5'Flank	p.M415L	NM_006087	NP_006078	P04350	TBB4_HUMAN		Lung(535;3.23e-05)|STAD - Stomach adenocarcinoma(1328;8.24e-05)|GBM - Glioblastoma multiforme(1328;0.00839)|READ - Rectum adenocarcinoma(264;0.155)	4	1350	-		Hepatocellular(1079;0.00213)|Renal(1328;0.0183)	415					B3KQP4|Q969E5	Missense_Mutation	SNP	ENST00000264071.2	37	c.1243A>T	CCDS12168.1	.	.	.	.	.	.	.	.	.	.	T	11.53	1.666303	0.29604	.	.	ENSG00000104833	ENST00000264071;ENST00000540257;ENST00000412858	D;D	0.82167	-1.58;-1.58	3.43	3.43	0.39272	.	0.000000	0.85682	U	0.000000	T	0.73976	0.3656	L	0.33189	0.99	0.46096	D	0.998869	B	0.06786	0.001	B	0.09377	0.004	T	0.71721	-0.4507	10	0.87932	D	0	.	10.9096	0.47101	0.0:0.0:0.0:1.0	.	415	P04350	TBB4A_HUMAN	L	415;415;333	ENSP00000264071:M415L;ENSP00000443590:M415L	ENSP00000264071:M415L	M	-	1	0	TUBB4	6446267	1.000000	0.71417	1.000000	0.80357	0.915000	0.54546	7.899000	0.87370	1.207000	0.43291	0.254000	0.18369	ATG		PASS	0.632	TUBB4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457841.1	NM_006087		92	356	92	356	---	---	---	---
LDLR	3949	broad.mit.edu	37	19	11223989	11223989	+	Missense_Mutation	SNP	G	G	A	rs137943601		TCGA-22-4595-01A-01D-1267-08	TCGA-22-4595-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7fcf5123-2d1b-4666-9d39-a1aaf63cf954	850e8a4d-e0f6-4bd6-80f5-1c20e2b0e4f9	g.chr19:11223989G>A	ENST00000558518.1	+	9	1409	c.1222G>A	c.(1222-1224)Gag>Aag	p.E408K	LDLR_ENST00000535915.1_Missense_Mutation_p.E367K|LDLR_ENST00000557933.1_Missense_Mutation_p.E408K|LDLR_ENST00000545707.1_Missense_Mutation_p.E281K|LDLR_ENST00000455727.2_Missense_Mutation_p.E240K|LDLR_ENST00000558013.1_Missense_Mutation_p.E408K	NM_000527.4|NM_001195798.1	NP_000518.1|NP_001182727.1	P01130	LDLR_HUMAN	low density lipoprotein receptor	408			E -> K (may contribute to familial hypercholesterolemia; Algeria-1). {ECO:0000269|PubMed:10882754}.		cholesterol homeostasis (GO:0042632)|cholesterol import (GO:0070508)|cholesterol metabolic process (GO:0008203)|cholesterol transport (GO:0030301)|endocytosis (GO:0006897)|intestinal cholesterol absorption (GO:0030299)|lipid metabolic process (GO:0006629)|lipoprotein catabolic process (GO:0042159)|lipoprotein metabolic process (GO:0042157)|low-density lipoprotein particle clearance (GO:0034383)|phospholipid transport (GO:0015914)|phototransduction, visible light (GO:0007603)|positive regulation of triglyceride biosynthetic process (GO:0010867)|receptor-mediated endocytosis (GO:0006898)|regulation of cholesterol homeostasis (GO:2000188)|regulation of phosphatidylcholine catabolic process (GO:0010899)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	cell surface (GO:0009986)|clathrin-coated endocytic vesicle membrane (GO:0030669)|coated pit (GO:0005905)|early endosome (GO:0005769)|endosome membrane (GO:0010008)|external side of plasma membrane (GO:0009897)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|low-density lipoprotein particle (GO:0034362)|lysosome (GO:0005764)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|glycoprotein binding (GO:0001948)|low-density lipoprotein particle binding (GO:0030169)|low-density lipoprotein receptor activity (GO:0005041)|very-low-density lipoprotein particle receptor activity (GO:0030229)	p.?(1)|p.E408K(1)		breast(2)|endometrium(2)|large_intestine(5)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		Lung NSC(9;0.000245)|Renal(1328;0.0007)|Hepatocellular(1079;0.0524)		GBM - Glioblastoma multiforme(1328;1.36e-05)|STAD - Stomach adenocarcinoma(1328;0.000766)|Lung(535;0.197)	Porfimer(DB00707)	CAACCGGCACGAGGTCAGGAA	0.627																																					GBM(18;201 575 7820 21545)	uc002mqk.3																			2	Substitution - Missense(1)|Unknown(1)		lung(2)	ovary(2)|skin(2)	4	GRCh37	CM045057|CM920451	LDLR	M	rs137943601	c.(1222-1224)GAG>AAG		low density lipoprotein receptor precursor	Methyl aminolevulinate(DB00992)|Porfimer(DB00707)	G	LYS/GLU,LYS/GLU,LYS/GLU,LYS/GLU,LYS/GLU,LYS/GLU	0,4406		0,0,2203	57.0	50.0	52.0		1222,1222,1099,718,859,841	4.9	1.0	19	dbSNP_134	52	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense,missense,missense,missense	LDLR	NM_000527.4,NM_001195798.1,NM_001195799.1,NM_001195800.1,NM_001195802.1,NM_001195803.1	56,56,56,56,56,56	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging	408/861,408/859,367/820,240/693,287/740,281/683	11223989	1,13005	2203	4300	6503	SO:0001583	missense	3949				cholesterol homeostasis|cholesterol metabolic process|interspecies interaction between organisms|intestinal cholesterol absorption|low-density lipoprotein particle clearance|receptor-mediated endocytosis	clathrin-coated endocytic vesicle membrane|coated pit|early endosome|endosome membrane|external side of plasma membrane|integral to plasma membrane|low-density lipoprotein particle|lysosome	calcium ion binding|low-density lipoprotein receptor activity|protein binding|very-low-density lipoprotein particle receptor activity	g.chr19:11223989G>A	AY114155	CCDS12254.1, CCDS56083.1, CCDS56084.1, CCDS56085.1, CCDS58651.1	19p13.2	2014-09-17	2008-08-01		ENSG00000130164	ENSG00000130164		"""Low density lipoprotein receptors"""	6547	protein-coding gene	gene with protein product	"""familial hypercholesterolemia"""	606945					Standard	NM_000527		Approved	LDLCQ2	uc002mqk.4	P01130		ENST00000558518.1:c.1222G>A	19.37:g.11223989G>A	ENSP00000454071:p.Glu408Lys					LDLR_uc010xlk.1_Missense_Mutation_p.E408K|LDLR_uc010xll.1_Missense_Mutation_p.E367K|LDLR_uc010xlm.1_Missense_Mutation_p.E261K|LDLR_uc010xln.1_Missense_Mutation_p.E281K|LDLR_uc010xlo.1_Missense_Mutation_p.E240K	p.E408K	NM_000527	NP_000518	P01130	LDLR_HUMAN		GBM - Glioblastoma multiforme(1328;1.36e-05)|STAD - Stomach adenocarcinoma(1328;0.000766)|Lung(535;0.197)	9	1390	+		Lung NSC(9;0.000245)|Renal(1328;0.0007)|Hepatocellular(1079;0.0524)	408		E -> K (may contribute to familial hypercholesterolemia; Algeria-1).	LDL-receptor class B 1.|Extracellular (Potential).		B4DII3|B4DJZ8|B4DR00|B4DTQ3|C0JYY8|H0YLU8|H0YNT7|Q53ZD9|Q59FQ1|Q9UDH7	Missense_Mutation	SNP	ENST00000558518.1	37	c.1222G>A	CCDS12254.1	.	.	.	.	.	.	.	.	.	.	G	22.1	4.239619	0.79800	0.0	1.16E-4	ENSG00000130164	ENST00000252444;ENST00000545707;ENST00000535915;ENST00000455727	D;D;D	0.91180	-2.8;-2.8;-2.8	4.87	4.87	0.63330	Six-bladed beta-propeller, TolB-like (1);Growth factor, receptor (1);	0.000000	0.64402	D	0.000018	D	0.95481	0.8532	M	0.85777	2.775	0.80722	A	1	D;D;D;P;D;D	0.71674	0.998;0.963;0.996;0.827;0.996;0.993	D;P;D;P;P;P	0.68353	0.95;0.738;0.957;0.465;0.905;0.905	D	0.96256	0.9187	9	0.87932	D	0	.	16.7917	0.85591	0.0:0.0:1.0:0.0	.	240;281;287;367;420;408	B4DR00;B4DJZ8;B4DII3;B4DTQ3;Q59FQ1;P01130	.;.;.;.;.;LDLR_HUMAN	K	408;281;367;240	ENSP00000437639:E281K;ENSP00000440520:E367K;ENSP00000397829:E240K	ENSP00000252444:E408K	E	+	1	0	LDLR	11084989	1.000000	0.71417	0.989000	0.46669	0.023000	0.10783	9.281000	0.95811	2.265000	0.75225	0.555000	0.69702	GAG		PASS	0.627	LDLR-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000415973.2			28	73	28	73	---	---	---	---
CACNA1A	773	broad.mit.edu	37	19	13325317	13325317	+	Missense_Mutation	SNP	T	T	A			TCGA-22-4595-01A-01D-1267-08	TCGA-22-4595-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7fcf5123-2d1b-4666-9d39-a1aaf63cf954	850e8a4d-e0f6-4bd6-80f5-1c20e2b0e4f9	g.chr19:13325317T>A	ENST00000360228.5	-	39	5836	c.5837A>T	c.(5836-5838)aAg>aTg	p.K1946M	CACNA1A_ENST00000573710.2_Missense_Mutation_p.K1947M	NM_000068.3|NM_001127222.1|NM_001174080.1|NM_023035.2	NP_000059.3|NP_001120694.1|NP_001167551.1|NP_075461.2	O00555	CAC1A_HUMAN	calcium channel, voltage-dependent, P/Q type, alpha 1A subunit	1947					adult walking behavior (GO:0007628)|behavioral response to pain (GO:0048266)|calcium ion import (GO:0070509)|calcium ion-dependent exocytosis (GO:0017156)|calcium ion-dependent exocytosis of neurotransmitter (GO:0048791)|cell death (GO:0008219)|cell growth (GO:0016049)|cellular chloride ion homeostasis (GO:0030644)|cerebellar molecular layer development (GO:0021679)|cerebellar Purkinje cell differentiation (GO:0021702)|cerebellum maturation (GO:0021590)|dendrite morphogenesis (GO:0048813)|energy reserve metabolic process (GO:0006112)|gamma-aminobutyric acid secretion (GO:0014051)|gamma-aminobutyric acid signaling pathway (GO:0007214)|glucose metabolic process (GO:0006006)|hormone metabolic process (GO:0042445)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|musculoskeletal movement, spinal reflex action (GO:0050883)|negative regulation of hormone biosynthetic process (GO:0032353)|negative regulation of neuron apoptotic process (GO:0043524)|neuromuscular process controlling balance (GO:0050885)|neuromuscular synaptic transmission (GO:0007274)|neurotransmitter metabolic process (GO:0042133)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|receptor clustering (GO:0043113)|regulation of acetylcholine secretion, neurotransmission (GO:0014056)|regulation of axonogenesis (GO:0050770)|regulation of calcium ion-dependent exocytosis (GO:0017158)|regulation of insulin secretion (GO:0050796)|rhythmic synaptic transmission (GO:0060024)|small molecule metabolic process (GO:0044281)|spinal cord motor neuron differentiation (GO:0021522)|sulfur amino acid metabolic process (GO:0000096)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transmission of nerve impulse (GO:0019226)|vestibular nucleus development (GO:0021750)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|syntaxin binding (GO:0019905)|voltage-gated calcium channel activity (GO:0005245)	p.K1947M(3)		breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(25)|prostate(2)|urinary_tract(1)	42			OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)		Bepridil(DB01244)|Loperamide(DB00836)|Pregabalin(DB00230)|Spironolactone(DB00421)|Verapamil(DB00661)	GCTCTTACACTTGTGAGGTGT	0.592																																						uc010dze.2																			3	Substitution - Missense(3)		lung(3)	large_intestine(2)	2						c.(5839-5841)AAG>ATG		calcium channel, alpha 1A subunit isoform 3	Bepridil(DB01244)|Cinnarizine(DB00568)|Loperamide(DB00836)|Nisoldipine(DB00401)|Pregabalin(DB00230)						53.0	56.0	55.0					19																	13325317		2093	4210	6303	SO:0001583	missense	773				cell death|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|membrane depolarization|regulation of insulin secretion	cytoplasm|nucleus	syntaxin binding	g.chr19:13325317T>A	U79666	CCDS45998.1, CCDS45999.1	19p13	2014-09-17			ENSG00000141837	ENSG00000141837		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1388	protein-coding gene	gene with protein product		601011		CACNL1A4, SCA6, MHP1, MHP		8825650, 16382099, 23827678	Standard	NM_000068		Approved	Cav2.1, EA2, APCA, HPCA, FHM	uc010xne.2	O00555	OTTHUMG00000044590	ENST00000360228.5:c.5837A>T	19.37:g.13325317T>A	ENSP00000353362:p.Lys1946Met					CACNA1A_uc010xnd.1_Missense_Mutation_p.K652M|CACNA1A_uc002mwx.3_Missense_Mutation_p.K652M|CACNA1A_uc010dzc.2_Missense_Mutation_p.K1472M|CACNA1A_uc002mwy.3_Missense_Mutation_p.K1946M|CACNA1A_uc002mwv.3_Missense_Mutation_p.K463M	p.K1947M	NM_001127221	NP_001120693	O00555	CAC1A_HUMAN	OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)		39	6076	-			1947			Cytoplasmic (Potential).		J3KP41|P78510|P78511|Q16290|Q92690|Q99790|Q99791|Q99792|Q99793|Q9NS88|Q9UDC4	Missense_Mutation	SNP	ENST00000360228.5	37	c.5840A>T	CCDS45998.1	.	.	.	.	.	.	.	.	.	.	T	14.32	2.498911	0.44455	.	.	ENSG00000141837	ENST00000360228;ENST00000418012;ENST00000357018;ENST00000325084	T	0.70631	-0.5	4.72	3.69	0.42338	.	0.566579	0.16261	N	0.222225	D	0.82907	0.5139	M	0.80982	2.52	0.49130	D	0.999751	D;D;D;D	0.76494	0.998;0.999;0.996;0.998	D;D;P;D	0.74023	0.939;0.982;0.819;0.959	T	0.82168	-0.0591	10	0.87932	D	0	.	10.5585	0.45131	0.0:0.0:0.1627:0.8373	.	1947;1952;1946;1947	O00555;E9PD31;Q9NS88;E7EVF2	CAC1A_HUMAN;.;.;.	M	1946;1952;1947;1947	ENSP00000353362:K1946M	ENSP00000317661:K1947M	K	-	2	0	CACNA1A	13186317	1.000000	0.71417	1.000000	0.80357	0.757000	0.42996	7.471000	0.80985	0.641000	0.30601	0.402000	0.26972	AAG		PASS	0.592	CACNA1A-001	KNOWN	non_canonical_U12|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000104062.2	NM_000068		21	55	21	55	---	---	---	---
CACNA1A	773	broad.mit.edu	37	19	13325326	13325326	+	Missense_Mutation	SNP	G	G	A			TCGA-22-4595-01A-01D-1267-08	TCGA-22-4595-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7fcf5123-2d1b-4666-9d39-a1aaf63cf954	850e8a4d-e0f6-4bd6-80f5-1c20e2b0e4f9	g.chr19:13325326G>A	ENST00000360228.5	-	39	5827	c.5828C>T	c.(5827-5829)aCa>aTa	p.T1943I	CACNA1A_ENST00000573710.2_Missense_Mutation_p.T1944I	NM_000068.3|NM_001127222.1|NM_001174080.1|NM_023035.2	NP_000059.3|NP_001120694.1|NP_001167551.1|NP_075461.2	O00555	CAC1A_HUMAN	calcium channel, voltage-dependent, P/Q type, alpha 1A subunit	1944					adult walking behavior (GO:0007628)|behavioral response to pain (GO:0048266)|calcium ion import (GO:0070509)|calcium ion-dependent exocytosis (GO:0017156)|calcium ion-dependent exocytosis of neurotransmitter (GO:0048791)|cell death (GO:0008219)|cell growth (GO:0016049)|cellular chloride ion homeostasis (GO:0030644)|cerebellar molecular layer development (GO:0021679)|cerebellar Purkinje cell differentiation (GO:0021702)|cerebellum maturation (GO:0021590)|dendrite morphogenesis (GO:0048813)|energy reserve metabolic process (GO:0006112)|gamma-aminobutyric acid secretion (GO:0014051)|gamma-aminobutyric acid signaling pathway (GO:0007214)|glucose metabolic process (GO:0006006)|hormone metabolic process (GO:0042445)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|musculoskeletal movement, spinal reflex action (GO:0050883)|negative regulation of hormone biosynthetic process (GO:0032353)|negative regulation of neuron apoptotic process (GO:0043524)|neuromuscular process controlling balance (GO:0050885)|neuromuscular synaptic transmission (GO:0007274)|neurotransmitter metabolic process (GO:0042133)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|receptor clustering (GO:0043113)|regulation of acetylcholine secretion, neurotransmission (GO:0014056)|regulation of axonogenesis (GO:0050770)|regulation of calcium ion-dependent exocytosis (GO:0017158)|regulation of insulin secretion (GO:0050796)|rhythmic synaptic transmission (GO:0060024)|small molecule metabolic process (GO:0044281)|spinal cord motor neuron differentiation (GO:0021522)|sulfur amino acid metabolic process (GO:0000096)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transmission of nerve impulse (GO:0019226)|vestibular nucleus development (GO:0021750)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|syntaxin binding (GO:0019905)|voltage-gated calcium channel activity (GO:0005245)	p.T1944I(3)		breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(25)|prostate(2)|urinary_tract(1)	42			OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)		Bepridil(DB01244)|Loperamide(DB00836)|Pregabalin(DB00230)|Spironolactone(DB00421)|Verapamil(DB00661)	CTTGTGAGGTGTGACCAGCAG	0.602																																						uc010dze.2																			3	Substitution - Missense(3)		lung(3)	large_intestine(2)	2						c.(5830-5832)ACA>ATA		calcium channel, alpha 1A subunit isoform 3	Bepridil(DB01244)|Cinnarizine(DB00568)|Loperamide(DB00836)|Nisoldipine(DB00401)|Pregabalin(DB00230)						55.0	59.0	58.0					19																	13325326		2129	4224	6353	SO:0001583	missense	773				cell death|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|membrane depolarization|regulation of insulin secretion	cytoplasm|nucleus	syntaxin binding	g.chr19:13325326G>A	U79666	CCDS45998.1, CCDS45999.1	19p13	2014-09-17			ENSG00000141837	ENSG00000141837		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1388	protein-coding gene	gene with protein product		601011		CACNL1A4, SCA6, MHP1, MHP		8825650, 16382099, 23827678	Standard	NM_000068		Approved	Cav2.1, EA2, APCA, HPCA, FHM	uc010xne.2	O00555	OTTHUMG00000044590	ENST00000360228.5:c.5828C>T	19.37:g.13325326G>A	ENSP00000353362:p.Thr1943Ile					CACNA1A_uc010xnd.1_Missense_Mutation_p.T649I|CACNA1A_uc002mwx.3_Missense_Mutation_p.T649I|CACNA1A_uc010dzc.2_Missense_Mutation_p.T1469I|CACNA1A_uc002mwy.3_Missense_Mutation_p.T1943I|CACNA1A_uc002mwv.3_Missense_Mutation_p.T460I	p.T1944I	NM_001127221	NP_001120693	O00555	CAC1A_HUMAN	OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)		39	6067	-			1944			Cytoplasmic (Potential).		J3KP41|P78510|P78511|Q16290|Q92690|Q99790|Q99791|Q99792|Q99793|Q9NS88|Q9UDC4	Missense_Mutation	SNP	ENST00000360228.5	37	c.5831C>T	CCDS45998.1	.	.	.	.	.	.	.	.	.	.	G	15.69	2.907148	0.52333	.	.	ENSG00000141837	ENST00000360228;ENST00000418012;ENST00000357018;ENST00000325084	T	0.63417	-0.04	4.72	4.72	0.59763	.	0.000000	0.85682	D	0.000000	T	0.77471	0.4135	M	0.65975	2.015	0.58432	D	0.999992	D;D;D;D	0.71674	0.994;0.998;0.998;0.997	D;D;D;D	0.76071	0.92;0.964;0.987;0.92	T	0.80743	-0.1246	10	0.87932	D	0	.	16.4549	0.84009	0.0:0.0:1.0:0.0	.	1944;1949;1943;1944	O00555;E9PD31;Q9NS88;E7EVF2	CAC1A_HUMAN;.;.;.	I	1943;1949;1944;1944	ENSP00000353362:T1943I	ENSP00000317661:T1944I	T	-	2	0	CACNA1A	13186326	1.000000	0.71417	0.968000	0.41197	0.712000	0.41017	9.186000	0.94906	2.184000	0.69523	0.491000	0.48974	ACA		PASS	0.602	CACNA1A-001	KNOWN	non_canonical_U12|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000104062.2	NM_000068		19	55	19	55	---	---	---	---
CYP4F2	8529	broad.mit.edu	37	19	16008362	16008362	+	Silent	SNP	C	C	A			TCGA-22-4595-01A-01D-1267-08	TCGA-22-4595-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7fcf5123-2d1b-4666-9d39-a1aaf63cf954	850e8a4d-e0f6-4bd6-80f5-1c20e2b0e4f9	g.chr19:16008362C>A	ENST00000221700.6	-	2	155	c.60G>T	c.(58-60)ctG>ctT	p.L20L	CYP4F2_ENST00000011989.7_5'UTR	NM_001082.3	NP_001073.3			cytochrome P450, family 4, subfamily F, polypeptide 2									p.L20L(1)		NS(2)|breast(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						GCAGGAGGAGCAGCCAAGGGG	0.662																																						uc002nbs.1																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|skin(1)	2						c.(58-60)CTG>CTT		cytochrome P450, family 4, subfamily F,							39.0	42.0	41.0					19																	16008362		2203	4300	6503	SO:0001819	synonymous_variant	8529				leukotriene metabolic process|long-chain fatty acid metabolic process|very long-chain fatty acid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	alkane 1-monooxygenase activity|electron carrier activity|heme binding|leukotriene-B4 20-monooxygenase activity|oxygen binding|protein binding	g.chr19:16008362C>A	U02388	CCDS12336.1	19p13.12	2013-11-11	2003-01-14		ENSG00000186115	ENSG00000186115		"""Cytochrome P450s"""	2645	protein-coding gene	gene with protein product		604426	"""cytochrome P450, subfamily IVF, polypeptide 2"""			8424651, 8026587	Standard	NM_001082		Approved		uc002nbs.1	P78329	OTTHUMG00000185995	ENST00000221700.6:c.60G>T	19.37:g.16008362C>A						CYP4F2_uc010xot.1_Intron|CYP4F2_uc010xou.1_5'UTR	p.L20L	NM_001082	NP_001073	P78329	CP4F2_HUMAN			2	110	-			20						Silent	SNP	ENST00000221700.6	37	c.60G>T	CCDS12336.1																																																																																				PASS	0.662	CYP4F2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460372.3	NM_001082		12	35	12	35	---	---	---	---
ANO8	57719	broad.mit.edu	37	19	17436171	17436171	+	Missense_Mutation	SNP	G	G	A			TCGA-22-4595-01A-01D-1267-08	TCGA-22-4595-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7fcf5123-2d1b-4666-9d39-a1aaf63cf954	850e8a4d-e0f6-4bd6-80f5-1c20e2b0e4f9	g.chr19:17436171G>A	ENST00000159087.4	-	17	2844	c.2686C>T	c.(2686-2688)Cgc>Tgc	p.R896C		NM_020959.2	NP_066010.1	Q9HCE9	ANO8_HUMAN	anoctamin 8	896					chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)	intracellular calcium activated chloride channel activity (GO:0005229)	p.R896C(1)		autonomic_ganglia(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|ovary(4)|pancreas(1)|prostate(2)|urinary_tract(3)	27						TGCTGGTAGCGATGCTGGGCC	0.647																																						uc002ngf.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)	3						c.(2686-2688)CGC>TGC		anoctamin 8							19.0	22.0	21.0					19																	17436171		2180	4260	6440	SO:0001583	missense	57719					chloride channel complex	chloride channel activity	g.chr19:17436171G>A	AB046843	CCDS32949.1	19p13.12	2014-04-09	2008-08-28	2008-08-28		ENSG00000074855		"""Ion channels / Chloride channels : Calcium activated : Anoctamins"""	29329	protein-coding gene	gene with protein product		610216	"""KIAA1623"", ""transmembrane protein 16H"""	KIAA1623, TMEM16H		10997877, 24692353	Standard	NM_020959		Approved		uc002ngf.2	Q9HCE9		ENST00000159087.4:c.2686C>T	19.37:g.17436171G>A	ENSP00000159087:p.Arg896Cys					ANO8_uc010eap.2_RNA	p.R896C	NM_020959	NP_066010	Q9HCE9	ANO8_HUMAN			17	2845	-			896			Extracellular (Potential).		A6NIJ0	Missense_Mutation	SNP	ENST00000159087.4	37	c.2686C>T	CCDS32949.1	.	.	.	.	.	.	.	.	.	.	G	19.37	3.814735	0.70912	.	.	ENSG00000074855	ENST00000159087	T	0.62105	0.05	4.7	4.7	0.59300	.	0.246536	0.41294	D	0.000902	T	0.54255	0.1847	N	0.24115	0.695	0.53005	D	0.999965	D	0.64830	0.994	P	0.47744	0.556	T	0.56105	-0.8034	10	0.37606	T	0.19	.	15.0776	0.72087	0.0:0.0:1.0:0.0	.	896	Q9HCE9	ANO8_HUMAN	C	896	ENSP00000159087:R896C	ENSP00000159087:R896C	R	-	1	0	ANO8	17297171	1.000000	0.71417	1.000000	0.80357	0.836000	0.47400	8.663000	0.91134	2.153000	0.67306	0.491000	0.48974	CGC		PASS	0.647	ANO8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462943.1	XM_050644		13	24	13	24	---	---	---	---
MAP1S	55201	broad.mit.edu	37	19	17838969	17838969	+	Missense_Mutation	SNP	C	C	G			TCGA-22-4595-01A-01D-1267-08	TCGA-22-4595-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7fcf5123-2d1b-4666-9d39-a1aaf63cf954	850e8a4d-e0f6-4bd6-80f5-1c20e2b0e4f9	g.chr19:17838969C>G	ENST00000324096.4	+	5	2927	c.2776C>G	c.(2776-2778)Cga>Gga	p.R926G	MAP1S_ENST00000544059.2_Missense_Mutation_p.R900G|CTD-3149D2.4_ENST00000595363.1_RNA	NM_018174.4	NP_060644.4	Q66K74	MAP1S_HUMAN	microtubule-associated protein 1S	926	Necessary for association with microtubules.|Necessary for interaction with RASSF1 isoform A and isoform C.				apoptotic DNA fragmentation (GO:0006309)|brain development (GO:0007420)|execution phase of apoptosis (GO:0097194)|microtubule bundle formation (GO:0001578)|mitochondrion transport along microtubule (GO:0047497)|nervous system development (GO:0007399)|neuron projection morphogenesis (GO:0048812)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|microtubule (GO:0005874)|neuronal cell body (GO:0043025)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|synapse (GO:0045202)	actin filament binding (GO:0051015)|beta-tubulin binding (GO:0048487)|DNA binding (GO:0003677)|microtubule binding (GO:0008017)|tubulin binding (GO:0015631)	p.R926G(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	25						GACTGCCACTCGAGGCCCGTC	0.627																																						uc002nhe.1																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1						c.(2776-2778)CGA>GGA		BPY2 interacting protein 1							14.0	18.0	17.0					19																	17838969		1816	3623	5439	SO:0001583	missense	55201				apoptosis|brain development|microtubule bundle formation|mitochondrion transport along microtubule|neuron projection morphogenesis	cytosol|dendrite|microtubule|neuronal cell body|nucleus|perinuclear region of cytoplasm|spindle|synapse	actin filament binding|beta-tubulin binding|DNA binding|microtubule binding	g.chr19:17838969C>G	BC067115	CCDS32954.1	19p13.12	2008-02-05	2006-07-04	2006-07-04		ENSG00000130479			15715	protein-coding gene	gene with protein product		607573	"""chromosome 19 open reading frame 5"", ""VCY2 interacting protein 1"", ""BPY2 interacting protein 1"""	C19orf5, VCY2IP1, BPY2IP1		11827465, 15528209, 16297881, 14627543	Standard	NM_018174		Approved	FLJ10669, MAP8	uc002nhe.1	Q66K74		ENST00000324096.4:c.2776C>G	19.37:g.17838969C>G	ENSP00000325313:p.Arg926Gly					MAP1S_uc010eba.1_Intron|MAP1S_uc002nhf.1_Missense_Mutation_p.R174G|MAP1S_uc010xpv.1_Missense_Mutation_p.R900G	p.R926G	NM_018174	NP_060644	Q66K74	MAP1S_HUMAN			5	2785	+			926			Necessary for interaction with RASSF1 isoform A and isoform C.|Necessary for association with microtubules.		B4DH53|Q27QB1|Q6NXF1|Q8N3L8|Q8N3W5|Q8NI88|Q96H94|Q96IT4|Q96SP8|Q9BRC6|Q9H928|Q9NVK7	Missense_Mutation	SNP	ENST00000324096.4	37	c.2776C>G	CCDS32954.1	.	.	.	.	.	.	.	.	.	.	C	9.774	1.173415	0.21704	.	.	ENSG00000130479	ENST00000324096;ENST00000544059	T;T	0.20881	2.04;2.04	4.86	1.5	0.22942	.	0.711482	0.11678	N	0.540135	T	0.15478	0.0373	N	0.25647	0.755	0.09310	N	1	P;B	0.47841	0.901;0.01	P;B	0.45167	0.472;0.005	T	0.13045	-1.0524	10	0.62326	D	0.03	-3.0006	4.4132	0.11443	0.0:0.607:0.1879:0.2052	.	900;926	B4DH53;Q66K74	.;MAP1S_HUMAN	G	926;900	ENSP00000325313:R926G;ENSP00000439243:R900G	ENSP00000325313:R926G	R	+	1	2	MAP1S	17699969	0.004000	0.15560	0.001000	0.08648	0.005000	0.04900	1.660000	0.37397	0.453000	0.26858	-1.099000	0.02127	CGA		PASS	0.627	MAP1S-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466027.1	NM_018174		9	33	9	33	---	---	---	---
SUGP2	10147	broad.mit.edu	37	19	19136416	19136416	+	Missense_Mutation	SNP	C	C	A			TCGA-22-4595-01A-01D-1267-08	TCGA-22-4595-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7fcf5123-2d1b-4666-9d39-a1aaf63cf954	850e8a4d-e0f6-4bd6-80f5-1c20e2b0e4f9	g.chr19:19136416C>A	ENST00000601879.1	-	3	1038	c.741G>T	c.(739-741)ttG>ttT	p.L247F	SUGP2_ENST00000600377.1_Missense_Mutation_p.L261F|SUGP2_ENST00000598202.1_5'UTR|SUGP2_ENST00000456085.2_Intron|SUGP2_ENST00000337018.6_Missense_Mutation_p.L247F|SUGP2_ENST00000452918.2_Missense_Mutation_p.L247F			Q8IX01	SUGP2_HUMAN	SURP and G patch domain containing 2	247					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)	p.L247F(1)		NS(1)|breast(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	43						TCACATTTCTCAATGTGACAA	0.478																																						uc002nkx.2																			1	Substitution - Missense(1)		lung(1)		0						c.(739-741)TTG>TTT		splicing factor, arginine/serine-rich 14							150.0	140.0	144.0					19																	19136416		2203	4300	6503	SO:0001583	missense	10147				mRNA processing|RNA splicing	nucleus	RNA binding	g.chr19:19136416C>A	AB002363	CCDS12392.1	19p13	2013-01-28	2010-08-10	2010-08-10	ENSG00000064607	ENSG00000064607		"""G patch domain containing"""	18641	protein-coding gene	gene with protein product		607993	"""splicing factor, arginine/serine-rich 14"""	SFRS14		12594045	Standard	NM_014884		Approved	KIAA0365	uc002nkx.2	Q8IX01		ENST00000601879.1:c.741G>T	19.37:g.19136416C>A	ENSP00000472286:p.Leu247Phe					SFRS14_uc002nkz.1_Missense_Mutation_p.L261F|SFRS14_uc002nla.1_Missense_Mutation_p.L247F|SFRS14_uc002nlb.2_Missense_Mutation_p.L247F|SFRS14_uc010xqk.1_Intron	p.L247F	NM_014884	NP_055699	Q8IX01	SUGP2_HUMAN	OV - Ovarian serous cystadenocarcinoma(5;3.05e-05)|Epithelial(12;0.00161)		3	887	-			247					C9JI71|O15071|O60369|Q5JPH7|Q8WUF7	Missense_Mutation	SNP	ENST00000601879.1	37	c.741G>T	CCDS12392.1	.	.	.	.	.	.	.	.	.	.	C	13.77	2.335936	0.41398	.	.	ENSG00000064607	ENST00000337018;ENST00000330854;ENST00000452918	T;T;T	0.18810	2.21;2.19;2.21	5.11	2.81	0.32909	.	0.000000	0.49305	D	0.000159	T	0.27731	0.0682	L	0.27053	0.805	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.83275	0.946;0.996	T	0.02646	-1.1129	10	0.54805	T	0.06	-14.471	6.5522	0.22440	0.0:0.4847:0.0:0.5153	.	247;247	A8K5G0;Q8IX01	.;SUGP2_HUMAN	F	247	ENSP00000337926:L247F;ENSP00000332373:L247F;ENSP00000389380:L247F	ENSP00000332373:L247F	L	-	3	2	SUGP2	18997416	0.939000	0.31865	0.190000	0.23270	0.864000	0.49448	0.994000	0.29693	0.456000	0.26937	0.313000	0.20887	TTG		PASS	0.478	SUGP2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000464627.1	NM_001017392		5	387	5	387	---	---	---	---
ATP13A1	57130	broad.mit.edu	37	19	19762502	19762502	+	Missense_Mutation	SNP	C	C	G			TCGA-22-4595-01A-01D-1267-08	TCGA-22-4595-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7fcf5123-2d1b-4666-9d39-a1aaf63cf954	850e8a4d-e0f6-4bd6-80f5-1c20e2b0e4f9	g.chr19:19762502C>G	ENST00000357324.6	-	17	2357	c.2331G>C	c.(2329-2331)gaG>gaC	p.E777D	ATP13A1_ENST00000291503.5_Missense_Mutation_p.E659D|ATP13A1_ENST00000496082.1_5'Flank	NM_020410.2	NP_065143.2	Q9HD20	AT131_HUMAN	ATPase type 13A1	777						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|metal ion binding (GO:0046872)	p.E777D(1)		central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|liver(2)|lung(7)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	29						CCTCACCTTTCTCGGAGGGAG	0.617																																					Esophageal Squamous(142;920 1789 9047 14684 24777)	uc002nnh.3																			1	Substitution - Missense(1)		lung(1)	ovary(3)|large_intestine(2)|central_nervous_system(1)	6						c.(2329-2331)GAG>GAC		ATPase type 13A1							87.0	73.0	78.0					19																	19762502		2203	4300	6503	SO:0001583	missense	57130				ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding	g.chr19:19762502C>G	AK056420	CCDS32970.2	19p13.11	2010-04-20	2005-01-12	2005-01-12	ENSG00000105726	ENSG00000105726		"""ATPases / P-type"""	24215	protein-coding gene	gene with protein product	"""cation transporting ATPase"""		"""ATPase type 13A"""	ATP13A		11347906	Standard	NM_020410		Approved	KIAA1825, FLJ31858, CGI-152	uc002nnh.4	Q9HD20	OTTHUMG00000153016	ENST00000357324.6:c.2331G>C	19.37:g.19762502C>G	ENSP00000349877:p.Glu777Asp					ATP13A1_uc002nne.2_5'UTR|ATP13A1_uc002nnf.3_Missense_Mutation_p.E145D|ATP13A1_uc002nng.2_Missense_Mutation_p.E659D	p.E777D	NM_020410	NP_065143	Q9HD20	AT131_HUMAN			17	2359	-			777			Cytoplasmic (Potential).		B3KPJ2|B3KTA7|Q6NT90|Q6ZMG7|Q9H6C6	Missense_Mutation	SNP	ENST00000357324.6	37	c.2331G>C	CCDS32970.2	.	.	.	.	.	.	.	.	.	.	C	5.689	0.311659	0.10789	.	.	ENSG00000105726	ENST00000291503;ENST00000357324	D;D	0.82081	-1.56;-1.57	4.55	-2.37	0.06643	HAD-like domain (1);	1.003580	0.08025	N	0.992581	T	0.56572	0.1994	N	0.03115	-0.41	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.12837	0.008;0.001	T	0.48658	-0.9016	10	0.07482	T	0.82	-10.6356	5.8971	0.18945	0.0:0.3294:0.4746:0.196	.	777;659	Q9HD20;Q9HD20-2	AT131_HUMAN;.	D	659;777	ENSP00000291503:E659D;ENSP00000349877:E777D	ENSP00000291503:E659D	E	-	3	2	ATP13A1	19623502	0.052000	0.20516	0.007000	0.13788	0.031000	0.12232	0.125000	0.15749	-0.236000	0.09753	0.563000	0.77884	GAG		PASS	0.617	ATP13A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329005.1	NM_020410		10	60	10	60	---	---	---	---
KIRREL2	84063	broad.mit.edu	37	19	36352134	36352135	+	Missense_Mutation	DNP	GG	GG	TA			TCGA-22-4595-01A-01D-1267-08	TCGA-22-4595-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7fcf5123-2d1b-4666-9d39-a1aaf63cf954	850e8a4d-e0f6-4bd6-80f5-1c20e2b0e4f9	g.chr19:36352134_36352135GG>TA	ENST00000360202.5	+	9	1365_1366	c.1167_1168GG>TA	c.(1165-1170)gcGGag>gcTAag	p.E390K	KIRREL2_ENST00000262625.7_Missense_Mutation_p.E390K|KIRREL2_ENST00000592409.1_Missense_Mutation_p.E390K|NPHS1_ENST00000591817.1_Intron|KIRREL2_ENST00000347900.6_Missense_Mutation_p.E340K	NM_032123.5|NM_199180.2	NP_115499.4|NP_954649.2	Q6UWL6	KIRR2_HUMAN	kin of IRRE like 2 (Drosophila)	390	Ig-like C2-type 4.				cell adhesion (GO:0007155)|negative regulation of protein phosphorylation (GO:0001933)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|slit diaphragm (GO:0036057)		p.E390K(4)|p.A389A(2)		breast(2)|central_nervous_system(1)|endometrium(6)|large_intestine(6)|liver(2)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	48	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			GCGGCGCCGCGGAGGCTCGGCT	0.688																																						uc002ocb.3																			6	Substitution - Missense(4)|Substitution - coding silent(2)		lung(6)	ovary(1)|central_nervous_system(1)|skin(1)	3						c.(1165-1167)GCG>GCT|c.(1168-1170)GAG>AAG		kin of IRRE-like 2 isoform c																																				SO:0001583	missense	84063				cell adhesion	integral to membrane|plasma membrane		g.chr19:36352134G>T|g.chr19:36352135G>A	AL136654	CCDS12479.1, CCDS12480.1, CCDS12481.1	19q13.13	2013-01-29				ENSG00000126259		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	18816	protein-coding gene	gene with protein product		607762				12837264, 12504092	Standard	NM_199180		Approved	NLG1, NEPH3, FILTRIN, DKFZp564A1164, MGC15718	uc002ocb.4	Q6UWL6		Exception_encountered	19.37:g.36352134_36352135delinsTA	ENSP00000353331:p.Glu390Lys					KIRREL2_uc002obz.3_Silent_p.A389A|KIRREL2_uc002oca.3_Silent_p.A339A|KIRREL2_uc002occ.3_Silent_p.A336A|KIRREL2_uc002ocd.3_Silent_p.A386A|KIRREL2_uc002obz.3_Missense_Mutation_p.E390K|KIRREL2_uc002oca.3_Missense_Mutation_p.E340K|KIRREL2_uc002occ.3_Missense_Mutation_p.E337K|KIRREL2_uc002ocd.3_Missense_Mutation_p.E387K	p.A389A|p.E390K	NM_199180	NP_954649	Q6UWL6	KIRR2_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0515)		9	1379|1380	+	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		389|390	A -> V (in Ref. 1; AAP72167).|		Extracellular (Potential).|Ig-like C2-type 4.		C9JHF1|C9JJ76|F1T0I2|Q6P1R1|Q7Z5P1|Q7Z5P2|Q96IQ8|Q9H0T1	Silent|Missense_Mutation	SNP	ENST00000360202.5	37	c.1167G>T|c.1168G>A	CCDS12481.1																																																																																				PASS	0.688	KIRREL2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000452561.1	NM_032123		7|8	16	7	16	---	---	---	---
SIPA1L3	23094	broad.mit.edu	37	19	38610161	38610161	+	Missense_Mutation	SNP	C	C	A			TCGA-22-4595-01A-01D-1267-08	TCGA-22-4595-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7fcf5123-2d1b-4666-9d39-a1aaf63cf954	850e8a4d-e0f6-4bd6-80f5-1c20e2b0e4f9	g.chr19:38610161C>A	ENST00000222345.6	+	9	3016	c.2507C>A	c.(2506-2508)aCc>aAc	p.T836N		NM_015073.1	NP_055888.1	O60292	SI1L3_HUMAN	signal-induced proliferation-associated 1 like 3	836					hematopoietic progenitor cell differentiation (GO:0002244)|regulation of small GTPase mediated signal transduction (GO:0051056)	extracellular space (GO:0005615)	GTPase activator activity (GO:0005096)	p.T836N(1)		NS(1)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(22)|ovary(2)|prostate(4)|skin(3)	59			Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)			GTCTCCAACACCCCCATCGAC	0.582																																						uc002ohk.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.(2506-2508)ACC>AAC		signal-induced proliferation-associated 1 like							89.0	75.0	80.0					19																	38610161		2203	4300	6503	SO:0001583	missense	23094				regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity	g.chr19:38610161C>A	AB011117	CCDS33007.1	19q13.13	2008-02-05			ENSG00000105738	ENSG00000105738			23801	protein-coding gene	gene with protein product							Standard	XM_005258671		Approved	KIAA0545	uc002ohk.3	O60292	OTTHUMG00000073727	ENST00000222345.6:c.2507C>A	19.37:g.38610161C>A	ENSP00000222345:p.Thr836Asn						p.T836N	NM_015073	NP_055888	O60292	SI1L3_HUMAN	Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)		9	3016	+			836					Q2TV87	Missense_Mutation	SNP	ENST00000222345.6	37	c.2507C>A	CCDS33007.1	.	.	.	.	.	.	.	.	.	.	C	27.4	4.825648	0.90955	.	.	ENSG00000105738	ENST00000222345	T	0.56275	0.47	5.75	5.75	0.90469	.	0.049585	0.85682	D	0.000000	T	0.55097	0.1899	M	0.64567	1.98	0.58432	D	0.999998	P	0.37824	0.609	B	0.37550	0.253	T	0.58934	-0.7548	10	0.59425	D	0.04	-23.2864	18.7237	0.91705	0.0:1.0:0.0:0.0	.	836	O60292	SI1L3_HUMAN	N	836	ENSP00000222345:T836N	ENSP00000222345:T836N	T	+	2	0	SIPA1L3	43302001	1.000000	0.71417	0.997000	0.53966	0.980000	0.70556	4.864000	0.62990	2.725000	0.93324	0.655000	0.94253	ACC		PASS	0.582	SIPA1L3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000156294.2	XM_032278		19	77	19	77	---	---	---	---
GSK3A	2931	broad.mit.edu	37	19	42738600	42738600	+	Missense_Mutation	SNP	A	A	C			TCGA-22-4595-01A-01D-1267-08	TCGA-22-4595-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7fcf5123-2d1b-4666-9d39-a1aaf63cf954	850e8a4d-e0f6-4bd6-80f5-1c20e2b0e4f9	g.chr19:42738600A>C	ENST00000222330.3	-	6	936	c.809T>G	c.(808-810)tTg>tGg	p.L270W	GSK3A_ENST00000398249.4_Missense_Mutation_p.L188W	NM_019884.2	NP_063937.2	P49840	GSK3A_HUMAN	glycogen synthase kinase 3 alpha	270	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cardiac left ventricle morphogenesis (GO:0003214)|cell migration (GO:0016477)|cellular protein metabolic process (GO:0044267)|cellular response to insulin stimulus (GO:0032869)|cellular response to interleukin-3 (GO:0036016)|cellular response to lithium ion (GO:0071285)|cellular response to organic cyclic compound (GO:0071407)|endoplasmic reticulum unfolded protein response (GO:0030968)|epidermal growth factor receptor signaling pathway (GO:0007173)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glycogen metabolic process (GO:0005977)|hypermethylation of CpG island (GO:0044027)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell growth involved in cardiac muscle cell development (GO:0061052)|negative regulation of glucose import (GO:0046325)|negative regulation of glycogen (starch) synthase activity (GO:2000466)|negative regulation of glycogen biosynthetic process (GO:0045719)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of TOR signaling (GO:0032007)|negative regulation of transferase activity (GO:0051348)|negative regulation of type B pancreatic cell development (GO:2000077)|negative regulation of UDP-glucose catabolic process (GO:0010905)|nervous system development (GO:0007399)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of adrenergic receptor signaling pathway (GO:0071879)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of glycogen (starch) synthase activity (GO:2000467)|positive regulation of heart contraction (GO:0045823)|positive regulation of mitochondrial outer membrane permeabilization involved in apoptotic signaling pathway (GO:1901030)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein phosphorylation (GO:0006468)|regulation of gene expression by genetic imprinting (GO:0006349)|regulation of systemic arterial blood pressure (GO:0003073)|Wnt signaling pathway (GO:0016055)	beta-catenin destruction complex (GO:0030877)|cytosol (GO:0005829)	ATP binding (GO:0005524)|protein kinase A catalytic subunit binding (GO:0034236)|protein serine/threonine kinase activity (GO:0004674)|tau-protein kinase activity (GO:0050321)	p.L270W(1)		endometrium(3)|large_intestine(3)|lung(6)|ovary(3)|prostate(2)|skin(1)|urinary_tract(1)	19		Prostate(69;0.00682)				CCCTCGGACCAACTGCTTTGC	0.602																																						uc002otb.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)|lung(2)	4						c.(808-810)TTG>TGG		glycogen synthase kinase 3 alpha							98.0	89.0	92.0					19																	42738600		2203	4300	6503	SO:0001583	missense	2931				insulin receptor signaling pathway|negative regulation of glucose import|negative regulation of insulin receptor signaling pathway|negative regulation of transferase activity|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of protein catabolic process	beta-catenin destruction complex|cytosol	ATP binding|protein kinase A catalytic subunit binding|protein serine/threonine kinase activity|tau-protein kinase activity	g.chr19:42738600A>C		CCDS12599.1	19q13	2008-02-15			ENSG00000105723	ENSG00000105723			4616	protein-coding gene	gene with protein product		606784				9809441	Standard	NM_019884		Approved		uc002otb.1	P49840	OTTHUMG00000150722	ENST00000222330.3:c.809T>G	19.37:g.42738600A>C	ENSP00000222330:p.Leu270Trp					GSK3A_uc002ota.1_Missense_Mutation_p.L188W|GSK3A_uc002otc.2_RNA	p.L270W	NM_019884	NP_063937	P49840	GSK3A_HUMAN			6	928	-		Prostate(69;0.00682)	270			Protein kinase.		O14959	Missense_Mutation	SNP	ENST00000222330.3	37	c.809T>G	CCDS12599.1	.	.	.	.	.	.	.	.	.	.	A	18.93	3.728122	0.69074	.	.	ENSG00000105723	ENST00000222330;ENST00000398249;ENST00000544315	T;T	0.51071	0.72;0.72	4.67	4.67	0.58626	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.56097	D	0.000021	T	0.66733	0.2819	M	0.70275	2.135	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.71185	-0.4667	10	0.87932	D	0	-29.2082	13.4319	0.61059	1.0:0.0:0.0:0.0	.	270;188	P49840;A8MT37	GSK3A_HUMAN;.	W	270;188;215	ENSP00000222330:L270W;ENSP00000381301:L188W	ENSP00000222330:L270W	L	-	2	0	GSK3A	47430440	1.000000	0.71417	0.998000	0.56505	0.729000	0.41735	6.790000	0.75115	1.877000	0.54381	0.260000	0.18958	TTG		PASS	0.602	GSK3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319782.1			58	136	58	136	---	---	---	---
PSG5	5673	broad.mit.edu	37	19	43690529	43690529	+	Missense_Mutation	SNP	G	G	T	rs200457481		TCGA-22-4595-01A-01D-1267-08	TCGA-22-4595-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7fcf5123-2d1b-4666-9d39-a1aaf63cf954	850e8a4d-e0f6-4bd6-80f5-1c20e2b0e4f9	g.chr19:43690529G>T	ENST00000366175.3	-	1	159	c.29C>A	c.(28-30)aCa>aAa	p.T10K	PSG5_ENST00000407568.1_Missense_Mutation_p.T10K|PSG5_ENST00000401992.1_5'UTR|PSG5_ENST00000404580.1_Missense_Mutation_p.T10K|PSG5_ENST00000407356.1_Missense_Mutation_p.T10K|PSG5_ENST00000342951.6_Missense_Mutation_p.T10K|PSG5_ENST00000599812.1_Missense_Mutation_p.T10K			Q15238	PSG5_HUMAN	pregnancy specific beta-1-glycoprotein 5	10					female pregnancy (GO:0007565)	extracellular region (GO:0005576)		p.T10K(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(18)|prostate(1)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35		Prostate(69;0.00899)				GATGTGCTGTGTGCAGGGAGG	0.597																																						uc002ovu.2																			1	Substitution - Missense(1)		lung(1)	skin(3)	3						c.(28-30)ACA>AAA		pregnancy specific beta-1-glycoprotein 5							105.0	103.0	103.0					19																	43690529		2203	4296	6499	SO:0001583	missense	5673				female pregnancy	extracellular region		g.chr19:43690529G>T		CCDS12617.1	19q13.2	2013-01-29			ENSG00000204941	ENSG00000204941		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	9522	protein-coding gene	gene with protein product	"""pregnancy-specific beta-1 glycoprotein"", ""pregnancy-specific beta 1 glycoprotein"""	176394				2735907	Standard	NM_002781		Approved	FL-NCA-3, PSG	uc002ovx.3	Q15238	OTTHUMG00000151539	ENST00000366175.3:c.29C>A	19.37:g.43690529G>T	ENSP00000382334:p.Thr10Lys					PSG6_uc010xwk.1_Intron|PSG5_uc010eir.2_5'Flank|PSG5_uc002ovx.2_Missense_Mutation_p.T10K|PSG5_uc002ovv.2_Missense_Mutation_p.T10K|PSG5_uc002ovw.2_Missense_Mutation_p.T10K	p.T10K	NM_002781	NP_002772	Q15238	PSG5_HUMAN			1	160	-		Prostate(69;0.00899)	10					Q15239|Q96QJ1|Q9UQ75	Missense_Mutation	SNP	ENST00000366175.3	37	c.29C>A	CCDS12617.1	.	.	.	.	.	.	.	.	.	.	N	7.161	0.585799	0.13749	.	.	ENSG00000204941	ENST00000366175;ENST00000407356;ENST00000407568;ENST00000342951;ENST00000404580;ENST00000401992	T;T;T;T;T	0.01178	5.41;5.41;5.22;5.41;5.39	1.41	-1.5	0.08691	.	.	.	.	.	T	0.00637	0.0021	N	0.11673	0.155	0.09310	N	1	B;B;B	0.18013	0.025;0.005;0.016	B;B;B	0.19666	0.019;0.012;0.026	T	0.45760	-0.9239	9	0.02654	T	1	.	6.9297	0.24434	0.0:0.4099:0.5901:0.0	.	10;10;10	E9PC55;Q15228;Q15238	.;.;PSG5_HUMAN	K	10	ENSP00000382334:T10K;ENSP00000386008:T10K;ENSP00000386053:T10K;ENSP00000344413:T10K;ENSP00000385250:T10K	ENSP00000344413:T10K	T	-	2	0	PSG5	48382369	0.000000	0.05858	0.000000	0.03702	0.010000	0.07245	0.107000	0.15375	-0.272000	0.09259	0.184000	0.17185	ACA		PASS	0.597	PSG5-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000323055.1	NM_002781		83	237	83	237	---	---	---	---
TRAPPC6A	79090	broad.mit.edu	37	19	45667444	45667444	+	Missense_Mutation	SNP	T	T	A			TCGA-22-4595-01A-01D-1267-08	TCGA-22-4595-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7fcf5123-2d1b-4666-9d39-a1aaf63cf954	850e8a4d-e0f6-4bd6-80f5-1c20e2b0e4f9	g.chr19:45667444T>A	ENST00000585934.1	-	4	350	c.332A>T	c.(331-333)cAg>cTg	p.Q111L	TRAPPC6A_ENST00000006275.4_Missense_Mutation_p.Q125L|TRAPPC6A_ENST00000592647.1_Silent_p.A102A|TRAPPC6A_ENST00000588062.1_Silent_p.A88A	NM_001270891.1	NP_001257820.1	O75865	TPC6A_HUMAN	trafficking protein particle complex 6A	111				SFPLLLPMASGLQYLEEAPKFLAFT -> KLSPPPPDGLWP AVSGGSTQVPGLH (in Ref. 1; AAF28967). {ECO:0000305}.	vesicle-mediated transport (GO:0016192)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)		p.Q125L(1)		autonomic_ganglia(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|prostate(2)	8		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00872)|GBM - Glioblastoma multiforme(486;0.233)		CTCCAGATACTGCAGGCCAGA	0.647																																						uc002paw.2																			1	Substitution - Missense(1)		lung(1)		0						c.(331-333)CAG>CTG		SubName: Full=TRAPPC6Adelta29-42; SubName: Full=Trafficking protein particle complex 6A, isoform CRA_a;							44.0	43.0	43.0					19																	45667444		2203	4300	6503	SO:0001583	missense	79090				vesicle-mediated transport	endoplasmic reticulum|Golgi apparatus	guanylate cyclase activity|heme binding	g.chr19:45667444T>A	AF161407	CCDS12655.1, CCDS59395.1, CCDS59396.1, CCDS59397.1	19q13.32	2012-10-02				ENSG00000007255		"""Trafficking protein particle complex"""	23069	protein-coding gene	gene with protein product		610396					Standard	NM_024108		Approved	TRS33, MGC2650, HSPC289	uc002pav.4	O75865		ENST00000585934.1:c.332A>T	19.37:g.45667444T>A	ENSP00000468612:p.Gln111Leu					TRAPPC6A_uc002pav.2_Missense_Mutation_p.Q125L	p.Q111L			O75865	TPC6A_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00872)|GBM - Glioblastoma multiforme(486;0.233)	4	351	-		all_neural(266;0.224)|Ovarian(192;0.231)	111	SFPLLLPMASGLQYLEEAPKFLAFT -> KLSPPPPDGLWP AVSGGSTQVPGLH (in Ref. 1; AAF28967).				K7ERB1|K7ERQ4|Q9BQ45|Q9P092	Missense_Mutation	SNP	ENST00000585934.1	37	c.332A>T	CCDS59397.1	.	.	.	.	.	.	.	.	.	.	t	13.32	2.203374	0.38905	.	.	ENSG00000007255	ENST00000006275	T	0.43688	0.94	4.44	4.44	0.53790	NO signalling/Golgi transport  ligand-binding domain (1);	0.064914	0.64402	D	0.000007	T	0.36386	0.0965	M	0.78637	2.42	0.80722	D	1	B;P	0.43909	0.403;0.821	B;B	0.25987	0.033;0.065	T	0.47315	-0.9127	10	0.59425	D	0.04	-20.264	10.3539	0.43952	0.0:0.0:0.0:1.0	.	111;125	O75865;O75865-2	TPC6A_HUMAN;.	L	125	ENSP00000006275:Q125L	ENSP00000006275:Q125L	Q	-	2	0	TRAPPC6A	50359284	1.000000	0.71417	0.882000	0.34594	0.219000	0.24729	4.622000	0.61240	1.748000	0.51833	0.375000	0.23000	CAG		PASS	0.647	TRAPPC6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457556.1	NM_024108		9	18	9	18	---	---	---	---
MARK4	57787	broad.mit.edu	37	19	45797675	45797675	+	Missense_Mutation	SNP	G	G	T			TCGA-22-4595-01A-01D-1267-08	TCGA-22-4595-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7fcf5123-2d1b-4666-9d39-a1aaf63cf954	850e8a4d-e0f6-4bd6-80f5-1c20e2b0e4f9	g.chr19:45797675G>T	ENST00000262891.4	+	14	1894	c.1563G>T	c.(1561-1563)gaG>gaT	p.E521D	MARK4_ENST00000300843.4_Missense_Mutation_p.E521D	NM_001199867.1	NP_001186796.1	Q96L34	MARK4_HUMAN	MAP/microtubule affinity-regulating kinase 4	521					microtubule bundle formation (GO:0001578)|microtubule cytoskeleton organization (GO:0000226)|nervous system development (GO:0007399)|positive regulation of programmed cell death (GO:0043068)|protein phosphorylation (GO:0006468)	centrosome (GO:0005813)|microtubule cytoskeleton (GO:0015630)|microtubule organizing center (GO:0005815)|neuron projection (GO:0043005)	ATP binding (GO:0005524)|gamma-tubulin binding (GO:0043015)|microtubule binding (GO:0008017)|protein serine/threonine kinase activity (GO:0004674)|tau-protein kinase activity (GO:0050321)|ubiquitin binding (GO:0043130)	p.E521D(3)		NS(1)|biliary_tract(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	31		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.0102)		CGGGGGCTGAGCGCCCGTCAC	0.592																																						uc002pbb.1																			3	Substitution - Missense(3)		lung(2)|large_intestine(1)	central_nervous_system(2)|large_intestine(1)	3						c.(1561-1563)GAG>GAT		RecName: Full=MAP/microtubule affinity-regulating kinase 4;          EC=2.7.11.1; AltName: Full=MAP/microtubule affinity-regulating kinase-like 1;							53.0	46.0	48.0					19																	45797675		2203	4300	6503	SO:0001583	missense	57787				microtubule bundle formation|nervous system development|positive regulation of programmed cell death	centrosome|neuron projection	ATP binding|gamma-tubulin binding|microtubule binding|protein serine/threonine kinase activity|tau-protein kinase activity|ubiquitin binding	g.chr19:45797675G>T	AB049127	CCDS12658.1, CCDS56097.1	19q13.32	2014-04-07	2002-06-12	2002-06-14	ENSG00000007047	ENSG00000007047	2.7.11.1		13538	protein-coding gene	gene with protein product		606495	"""MAP/microtubule affinity-regulating kinase like 1"""	MARKL1		23400999, 11326310, 9108484	Standard	NM_001199867		Approved	Nbla00650, FLJ90097, KIAA1860, PAR-1D	uc002paz.2	Q96L34	OTTHUMG00000181769	ENST00000262891.4:c.1563G>T	19.37:g.45797675G>T	ENSP00000262891:p.Glu521Asp					MARK4_uc002pba.1_Missense_Mutation_p.E521D	p.E521D			Q96L34	MARK4_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.0102)	14	1568	+		all_neural(266;0.224)|Ovarian(192;0.231)	521					Q8NG37|Q96JG7|Q96SQ2|Q9BYD8	Missense_Mutation	SNP	ENST00000262891.4	37	c.1563G>T	CCDS56097.1	.	.	.	.	.	.	.	.	.	.	G	8.753	0.921704	0.17982	.	.	ENSG00000007047	ENST00000262891;ENST00000300843	T;T	0.16457	2.34;2.34	4.47	2.19	0.27852	.	0.067466	0.56097	D	0.000023	T	0.02970	0.0088	N	0.00583	-1.355	0.34637	D	0.720208	B;B	0.06786	0.001;0.001	B;B	0.08055	0.002;0.003	T	0.35822	-0.9773	10	0.02654	T	1	.	4.095	0.09986	0.1971:0.0:0.618:0.1849	.	521;521	Q96L34;Q96L34-2	MARK4_HUMAN;.	D	521	ENSP00000262891:E521D;ENSP00000300843:E521D	ENSP00000262891:E521D	E	+	3	2	MARK4	50489515	0.961000	0.32948	1.000000	0.80357	0.988000	0.76386	0.070000	0.14573	0.449000	0.26747	0.655000	0.94253	GAG		PASS	0.592	MARK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457537.1	NM_031417		12	42	12	42	---	---	---	---
PLA2G4C	8605	broad.mit.edu	37	19	48571079	48571079	+	Missense_Mutation	SNP	C	C	A			TCGA-22-4595-01A-01D-1267-08	TCGA-22-4595-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7fcf5123-2d1b-4666-9d39-a1aaf63cf954	850e8a4d-e0f6-4bd6-80f5-1c20e2b0e4f9	g.chr19:48571079C>A	ENST00000599921.1	-	13	1428	c.1071G>T	c.(1069-1071)tgG>tgT	p.W357C	CTD-2265M8.2_ENST00000596552.1_RNA|PLA2G4C_ENST00000596510.1_5'UTR|PLA2G4C_ENST00000599111.1_Missense_Mutation_p.W367C|PLA2G4C_ENST00000354276.3_Missense_Mutation_p.W357C|PLA2G4C_ENST00000413144.2_Missense_Mutation_p.W357C			Q9UP65	PA24C_HUMAN	phospholipase A2, group IVC (cytosolic, calcium-independent)	357	PLA2c. {ECO:0000255|PROSITE- ProRule:PRU00555}.				arachidonic acid metabolic process (GO:0019369)|glycerophospholipid biosynthetic process (GO:0046474)|glycerophospholipid catabolic process (GO:0046475)|inflammatory response (GO:0006954)|intracellular signal transduction (GO:0035556)|parturition (GO:0007567)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phosphatidylinositol acyl-chain remodeling (GO:0036149)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cell cortex (GO:0005938)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nucleoplasm (GO:0005654)	calcium-independent phospholipase A2 activity (GO:0047499)|phospholipid binding (GO:0005543)	p.W357C(1)		breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(12)|lung(13)|ovary(2)|prostate(1)|skin(3)	38		all_cancers(25;2.84e-05)|all_lung(116;4.62e-05)|Lung NSC(112;7.61e-05)|all_epithelial(76;0.000192)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;8.09e-05)|all cancers(93;0.000517)|Epithelial(262;0.0135)|GBM - Glioblastoma multiforme(486;0.0717)		GAGTGGTCCCCCATTCCCACT	0.527																																						uc002phx.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(1069-1071)TGG>TGT		phospholipase A2, group IVC isoform 1 precursor							333.0	327.0	329.0					19																	48571079		2203	4300	6503	SO:0001583	missense	8605				arachidonic acid metabolic process|glycerophospholipid catabolic process|inflammatory response|intracellular signal transduction|parturition	cytosol|membrane	calcium-independent phospholipase A2 activity|phospholipid binding	g.chr19:48571079C>A	AF065214	CCDS12710.1, CCDS54286.1, CCDS59403.1	19q13.3	2008-09-19					3.1.1.4		9037	protein-coding gene	gene with protein product		603602				9705332	Standard	NM_003706		Approved	cPLA2-gamma	uc002phx.3	Q9UP65		ENST00000599921.1:c.1071G>T	19.37:g.48571079C>A	ENSP00000469473:p.Trp357Cys					PLA2G4C_uc002phw.2_Missense_Mutation_p.W292C|PLA2G4C_uc010elr.2_Missense_Mutation_p.W357C|PLA2G4C_uc010xzd.1_Missense_Mutation_p.W367C	p.W357C	NM_003706	NP_003697	Q9UP65	PA24C_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;8.09e-05)|all cancers(93;0.000517)|Epithelial(262;0.0135)|GBM - Glioblastoma multiforme(486;0.0717)	13	1469	-		all_cancers(25;2.84e-05)|all_lung(116;4.62e-05)|Lung NSC(112;7.61e-05)|all_epithelial(76;0.000192)|all_neural(266;0.0506)|Ovarian(192;0.113)	357			PLA2c.		B2RB71|B4DI40|O75457|Q6IBI8|Q9UG68	Missense_Mutation	SNP	ENST00000599921.1	37	c.1071G>T	CCDS12710.1	.	.	.	.	.	.	.	.	.	.	C	13.80	2.344555	0.41498	.	.	ENSG00000105499	ENST00000354276;ENST00000413144	T;T	0.04406	3.63;3.63	2.78	2.78	0.32641	Acyl transferase/acyl hydrolase/lysophospholipase (1);Lysophospholipase, catalytic domain (2);	0.000000	0.64402	U	0.000005	T	0.16085	0.0387	M	0.69823	2.125	0.51767	D	0.999931	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	T	0.00964	-1.1498	10	0.38643	T	0.18	-7.4204	9.3009	0.37845	0.0:1.0:0.0:0.0	.	367;357	B4DI40;Q9UP65	.;PA24C_HUMAN	C	357	ENSP00000346228:W357C;ENSP00000400036:W357C	ENSP00000346228:W357C	W	-	3	0	PLA2G4C	53262891	1.000000	0.71417	0.704000	0.30370	0.133000	0.20885	2.909000	0.48758	1.271000	0.44313	0.205000	0.17691	TGG		PASS	0.527	PLA2G4C-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000465551.1			7	838	7	838	---	---	---	---
NTF4	4909	broad.mit.edu	37	19	49564643	49564643	+	Silent	SNP	G	G	C			TCGA-22-4595-01A-01D-1267-08	TCGA-22-4595-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7fcf5123-2d1b-4666-9d39-a1aaf63cf954	850e8a4d-e0f6-4bd6-80f5-1c20e2b0e4f9	g.chr19:49564643G>C	ENST00000593537.1	-	1	611	c.612C>G	c.(610-612)ctC>ctG	p.L204L	NTF4_ENST00000451356.2_Intron|CGB7_ENST00000597853.1_5'Flank|NTF4_ENST00000301411.3_Silent_p.L204L|CTB-60B18.12_ENST00000597865.1_RNA|CGB7_ENST00000356213.4_5'Flank|CTB-60B18.18_ENST00000599209.1_lincRNA|NTF4_ENST00000594938.1_5'Flank			P34130	NTF4_HUMAN	neurotrophin 4	204					adult locomotory behavior (GO:0008344)|epidermis development (GO:0008544)|ganglion mother cell fate determination (GO:0007402)|innervation (GO:0060384)|long-term memory (GO:0007616)|mechanoreceptor differentiation (GO:0042490)|negative regulation of cell death (GO:0060548)|sensory organ boundary specification (GO:0008052)|taste bud development (GO:0061193)	endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	growth factor activity (GO:0008083)	p.L204L(1)		kidney(1)|lung(4)|upper_aerodigestive_tract(1)	6		all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_epithelial(76;3.83e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		all cancers(93;0.000371)|OV - Ovarian serous cystadenocarcinoma(262;0.000503)|GBM - Glioblastoma multiforme(486;0.00518)|Epithelial(262;0.0427)		CAGTCCGGCTGAGGAGTGTGC	0.602																																						uc002pmf.3																			1	Substitution - coding silent(1)		lung(1)		0						c.(610-612)CTC>CTG		neurotrophin 5 preproprotein							32.0	30.0	31.0					19																	49564643		2203	4300	6503	SO:0001819	synonymous_variant	4909				adult locomotory behavior|epidermis development|ganglion mother cell fate determination|long-term memory|sensory organ boundary specification	endoplasmic reticulum lumen|extracellular region	growth factor activity	g.chr19:49564643G>C		CCDS12754.1	19q13.3	2014-01-30	2008-01-31	2008-01-31		ENSG00000225950		"""Endogenous ligands"""	8024	protein-coding gene	gene with protein product	"""neurotrophic factor 4"""	162662	"""neurotrophin 5 (neurotrophin 4/5)"""	NTF5		1496419	Standard	NM_006179		Approved	NT-4/5, GLC1O	uc010yah.1	P34130		ENST00000593537.1:c.612C>G	19.37:g.49564643G>C						CGB7_uc010yah.1_Intron	p.L204L	NM_006179	NP_006170	P34130	NTF4_HUMAN		all cancers(93;0.000371)|OV - Ovarian serous cystadenocarcinoma(262;0.000503)|GBM - Glioblastoma multiforme(486;0.00518)|Epithelial(262;0.0427)	2	753	-		all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_epithelial(76;3.83e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)	204					Q6FH56	Silent	SNP	ENST00000593537.1	37	c.612C>G	CCDS12754.1																																																																																				PASS	0.602	NTF4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466258.1	NM_006179		3	57	3	57	---	---	---	---
NAPSA	9476	broad.mit.edu	37	19	50865269	50865269	+	Silent	SNP	G	G	C			TCGA-22-4595-01A-01D-1267-08	TCGA-22-4595-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7fcf5123-2d1b-4666-9d39-a1aaf63cf954	850e8a4d-e0f6-4bd6-80f5-1c20e2b0e4f9	g.chr19:50865269G>C	ENST00000253719.2	-	3	514	c.306C>G	c.(304-306)ctC>ctG	p.L102L	NR1H2_ENST00000600978.1_Intron|NR1H2_ENST00000542413.1_Intron	NM_004851.1	NP_004842.1	O96009	NAPSA_HUMAN	napsin A aspartic peptidase	102					membrane protein proteolysis (GO:0033619)|proteolysis (GO:0006508)|surfactant homeostasis (GO:0043129)	alveolar lamellar body (GO:0097208)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)	aspartic-type endopeptidase activity (GO:0004190)|endopeptidase activity (GO:0004175)|peptidase activity (GO:0008233)	p.L102L(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|skin(3)	12		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00743)|GBM - Glioblastoma multiforme(134;0.0183)		ACGGGACCCAGAGATTGGAGG	0.542																																						uc002prx.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(304-306)CTC>CTG		napsin A preproprotein							32.0	30.0	31.0					19																	50865269		2202	4279	6481	SO:0001819	synonymous_variant	9476				proteolysis	extracellular region	aspartic-type endopeptidase activity	g.chr19:50865269G>C	AF090386	CCDS12794.1	19q13.33	2011-08-25				ENSG00000131400			13395	protein-coding gene	gene with protein product	"""kidney-derived aspartic protease-like protein"""	605631					Standard	NM_004851		Approved	NAP1, NAPA, Kdap, KAP	uc002prx.3	O96009		ENST00000253719.2:c.306C>G	19.37:g.50865269G>C						NR1H2_uc002prv.3_Intron	p.L102L	NM_004851	NP_004842	O96009	NAPSA_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00743)|GBM - Glioblastoma multiforme(134;0.0183)	3	359	-		all_neural(266;0.057)	102					Q8WWD9	Silent	SNP	ENST00000253719.2	37	c.306C>G	CCDS12794.1																																																																																				PASS	0.542	NAPSA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464714.1	NM_004851		10	24	10	24	---	---	---	---
MIR520A	574467	broad.mit.edu	37	19	54191795	54191795	+	RNA	SNP	T	T	A			TCGA-22-4595-01A-01D-1267-08	TCGA-22-4595-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7fcf5123-2d1b-4666-9d39-a1aaf63cf954	850e8a4d-e0f6-4bd6-80f5-1c20e2b0e4f9	g.chr19:54191795T>A	ENST00000384862.1	+	0	0				MIR519C_ENST00000385053.1_RNA|MIR1283-1_ENST00000408494.1_RNA	NR_030189.1				microRNA 520a																		AGAAAGCGCTTCCCTTTTGAG	0.423																																						hsa-mir-1283-1|MI0003832																			0					0															104.0	92.0	95.0					19																	54191795		1568	3582	5150			100302265							g.chr19:54191795T>A			19q13.42	2011-09-12		2008-12-18	ENSG00000207594	ENSG00000207594		"""ncRNAs / Micro RNAs"""	32099	non-coding RNA	RNA, micro				MIRN520A			Standard	NR_030189		Approved	hsa-mir-520a	uc021uzs.1				19.37:g.54191795T>A						MIR520A_hsa-mir-520a|MI0003149_5'Flank										+									RNA	SNP	ENST00000384862.1	37	c.61T>A																																																																																					PASS	0.423	MIR520A-201	KNOWN	basic	miRNA	miRNA		NR_030189		50	128	50	128	---	---	---	---
NLRP7	199713	broad.mit.edu	37	19	55450741	55450741	+	Silent	SNP	C	C	T			TCGA-22-4595-01A-01D-1267-08	TCGA-22-4595-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7fcf5123-2d1b-4666-9d39-a1aaf63cf954	850e8a4d-e0f6-4bd6-80f5-1c20e2b0e4f9	g.chr19:55450741C>T	ENST00000590030.1	-	3	1486	c.1446G>A	c.(1444-1446)ctG>ctA	p.L482L	NLRP7_ENST00000592784.1_Silent_p.L482L|NLRP7_ENST00000446217.1_Silent_p.L510L|NLRP7_ENST00000588756.1_Silent_p.L482L|NLRP7_ENST00000340844.2_Silent_p.L482L|NLRP7_ENST00000448121.2_Silent_p.L482L|NLRP7_ENST00000328092.5_Silent_p.L482L			Q8WX94	NALP7_HUMAN	NLR family, pyrin domain containing 7	482	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.						ATP binding (GO:0005524)	p.L482L(2)		autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(17)|liver(1)|lung(33)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	73				GBM - Glioblastoma multiforme(193;0.0325)		CCTCCTTCTCCAGGGCGTAGA	0.592																																						uc002qih.3																			2	Substitution - coding silent(2)		lung(2)	large_intestine(1)|breast(1)|central_nervous_system(1)	3						c.(1444-1446)CTG>CTA		NACHT, leucine rich repeat and PYD containing 7							50.0	49.0	49.0					19																	55450741		2203	4300	6503	SO:0001819	synonymous_variant	199713						ATP binding	g.chr19:55450741C>T	AF464765	CCDS12912.1, CCDS33109.1, CCDS46183.1	19q13.42	2008-02-05	2006-12-08	2006-12-08		ENSG00000167634		"""Nucleotide-binding domain and leucine rich repeat containing"""	22947	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 7"""	609661	"""NACHT, leucine rich repeat and PYD containing 7"""	NALP7		12563287, 12019269	Standard	NM_139176		Approved	PYPAF3, NOD12, PAN7, CLR19.4	uc002qii.4	Q8WX94		ENST00000590030.1:c.1446G>A	19.37:g.55450741C>T						NLRP7_uc002qig.3_Silent_p.L482L|NLRP7_uc002qii.3_Silent_p.L482L|NLRP7_uc010esk.2_Silent_p.L482L|NLRP7_uc010esl.2_Silent_p.L510L	p.L482L	NM_206828	NP_996611	Q8WX94	NALP7_HUMAN		GBM - Glioblastoma multiforme(193;0.0325)	4	1522	-			482			NACHT.		E9PE16|Q32MH8|Q7RTR1	Silent	SNP	ENST00000590030.1	37	c.1446G>A	CCDS33109.1																																																																																				PASS	0.592	NLRP7-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000451396.1	NM_139176		42	138	42	138	---	---	---	---
PTPRH	5794	broad.mit.edu	37	19	55708542	55708542	+	Missense_Mutation	SNP	C	C	T	rs553012745		TCGA-22-4595-01A-01D-1267-08	TCGA-22-4595-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7fcf5123-2d1b-4666-9d39-a1aaf63cf954	850e8a4d-e0f6-4bd6-80f5-1c20e2b0e4f9	g.chr19:55708542C>T	ENST00000376350.3	-	9	1955	c.1933G>A	c.(1933-1935)Gtg>Atg	p.V645M	PTPRH_ENST00000588559.1_5'UTR|PTPRH_ENST00000263434.5_Missense_Mutation_p.V467M	NM_002842.3	NP_002833.3	Q9HD43	PTPRH_HUMAN	protein tyrosine phosphatase, receptor type, H	645	Fibronectin type-III 7. {ECO:0000255|PROSITE-ProRule:PRU00316}.				apoptotic process (GO:0006915)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)	transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)	p.V645M(1)		breast(2)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(8)|lung(27)|ovary(2)|prostate(5)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	67		Renal(1328;0.245)	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0479)		TCTGCCCACACGGTGAAATTG	0.557													C|||	1	0.000199681	0.0	0.0	5008	,	,		19019	0.0		0.0	False		,,,				2504	0.001					uc002qjq.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|large_intestine(1)|skin(1)	4						c.(1933-1935)GTG>ATG		protein tyrosine phosphatase, receptor type, H							134.0	106.0	115.0					19																	55708542		2203	4300	6503	SO:0001583	missense	5794				apoptosis	cytoplasm|integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr19:55708542C>T		CCDS33110.1, CCDS54321.1	19q13.4	2013-02-11				ENSG00000080031		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9672	protein-coding gene	gene with protein product		602510				8294459	Standard	XM_006723312		Approved	SAP-1	uc002qjq.3	Q9HD43		ENST00000376350.3:c.1933G>A	19.37:g.55708542C>T	ENSP00000365528:p.Val645Met					PTPRH_uc010esv.2_Missense_Mutation_p.V467M|PTPRH_uc002qjs.2_Missense_Mutation_p.V652M	p.V645M	NM_002842	NP_002833	Q9HD43	PTPRH_HUMAN	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0479)	9	2006	-		Renal(1328;0.245)	645			Extracellular (Potential).|Fibronectin type-III 7.		C9JCH2|Q15426|Q2NKN9|Q2NKP0	Missense_Mutation	SNP	ENST00000376350.3	37	c.1933G>A	CCDS33110.1	.	.	.	.	.	.	.	.	.	.	C	13.69	2.311547	0.40895	.	.	ENSG00000080031	ENST00000376350;ENST00000263434	T;T	0.74106	-0.81;-0.81	5.24	4.18	0.49190	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.495223	0.15110	N	0.280001	D	0.84575	0.5502	M	0.76574	2.34	0.30207	N	0.798042	D;D;D	0.89917	1.0;1.0;0.999	D;D;D	0.83275	0.996;0.994;0.947	T	0.80580	-0.1319	10	0.59425	D	0.04	.	11.1099	0.48226	0.1923:0.8077:0.0:0.0	.	467;467;645	C9JCH2;Q9HD43-2;Q9HD43	.;.;PTPRH_HUMAN	M	645;467	ENSP00000365528:V645M;ENSP00000263434:V467M	ENSP00000263434:V467M	V	-	1	0	PTPRH	60400354	0.008000	0.16893	0.996000	0.52242	0.028000	0.11728	0.348000	0.20031	1.290000	0.44636	0.655000	0.94253	GTG		PASS	0.557	PTPRH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452649.1			33	103	33	103	---	---	---	---
TMEM190	147744	broad.mit.edu	37	19	55889435	55889435	+	Missense_Mutation	SNP	G	G	C			TCGA-22-4595-01A-01D-1267-08	TCGA-22-4595-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7fcf5123-2d1b-4666-9d39-a1aaf63cf954	850e8a4d-e0f6-4bd6-80f5-1c20e2b0e4f9	g.chr19:55889435G>C	ENST00000291934.3	+	5	416	c.398G>C	c.(397-399)cGa>cCa	p.R133P	CTD-2105E13.15_ENST00000595064.1_RNA	NM_139172.1	NP_631911.1	Q8WZ59	TM190_HUMAN	transmembrane protein 190	133					hematopoietic progenitor cell differentiation (GO:0002244)	inner acrosomal membrane (GO:0002079)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)		p.R133P(1)		large_intestine(1)|lung(2)|skin(1)|upper_aerodigestive_tract(1)	5	Breast(117;0.191)		BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.044)		TCCAAGCACCGAGGGACCAAG	0.667																																						uc002qkt.1																			1	Substitution - Missense(1)		lung(1)		0						c.(397-399)CGA>CCA		transmembrane protein 190 precursor							37.0	34.0	35.0					19																	55889435		2202	4298	6500	SO:0001583	missense	147744					integral to membrane		g.chr19:55889435G>C	AF442729	CCDS33113.1	19q13.42	2011-09-28				ENSG00000160472			29632	protein-coding gene	gene with protein product						21273369	Standard	NM_139172		Approved	MDAC1	uc002qkt.1	Q8WZ59		ENST00000291934.3:c.398G>C	19.37:g.55889435G>C	ENSP00000291934:p.Arg133Pro						p.R133P	NM_139172	NP_631911	Q8WZ59	TM190_HUMAN	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.044)	5	416	+	Breast(117;0.191)		133			Cytoplasmic (Potential).		A6NJL5	Missense_Mutation	SNP	ENST00000291934.3	37	c.398G>C	CCDS33113.1	.	.	.	.	.	.	.	.	.	.	G	14.74	2.624548	0.46840	.	.	ENSG00000160472	ENST00000291934	.	.	.	2.8	1.76	0.24704	.	0.247197	0.20806	N	0.085339	T	0.38026	0.1025	L	0.27053	0.805	0.18873	N	0.999984	D	0.69078	0.997	D	0.66196	0.942	T	0.07139	-1.0788	9	0.87932	D	0	-12.3116	5.4794	0.16715	0.1615:0.0:0.8385:0.0	.	133	Q8WZ59	TM190_HUMAN	P	133	.	ENSP00000291934:R133P	R	+	2	0	TMEM190	60581247	0.001000	0.12720	0.271000	0.24616	0.089000	0.18198	0.079000	0.14782	0.747000	0.32809	0.313000	0.20887	CGA		PASS	0.667	TMEM190-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453042.1	NM_139172		22	58	22	58	---	---	---	---
NLRP5	126206	broad.mit.edu	37	19	56539869	56539869	+	Missense_Mutation	SNP	C	C	A			TCGA-22-4595-01A-01D-1267-08	TCGA-22-4595-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7fcf5123-2d1b-4666-9d39-a1aaf63cf954	850e8a4d-e0f6-4bd6-80f5-1c20e2b0e4f9	g.chr19:56539869C>A	ENST00000390649.3	+	7	2270	c.2270C>A	c.(2269-2271)cCt>cAt	p.P757H		NM_153447.4	NP_703148.4	P59047	NALP5_HUMAN	NLR family, pyrin domain containing 5	757					cellular protein complex assembly (GO:0043623)|cellular protein localization (GO:0034613)|embryo implantation (GO:0007566)|fertilization (GO:0009566)|in utero embryonic development (GO:0001701)|neuron death (GO:0070997)|organ morphogenesis (GO:0009887)|regulation of protein stability (GO:0031647)|regulation of RNA stability (GO:0043487)	apical cortex (GO:0045179)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|protein complex (GO:0043234)	ATP binding (GO:0005524)	p.P757H(1)		breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|ovary(5)|skin(2)|stomach(4)|upper_aerodigestive_tract(2)	25		Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0326)		CCTGTGGTCCCTCTATGGTGA	0.527																																						uc002qmj.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|skin(2)|kidney(1)|central_nervous_system(1)	7						c.(2269-2271)CCT>CAT		NACHT, LRR and PYD containing protein 5							130.0	131.0	130.0					19																	56539869		2014	4188	6202	SO:0001583	missense	126206					mitochondrion|nucleolus	ATP binding	g.chr19:56539869C>A	AY154460	CCDS12938.1	19q13.43	2008-10-30	2006-12-08	2006-12-08	ENSG00000171487	ENSG00000171487		"""Nucleotide-binding domain and leucine rich repeat containing"""	21269	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 5"""	609658	"""NACHT, leucine rich repeat and PYD containing 5"""	NALP5		12563287, 11925379	Standard	NM_153447		Approved	PYPAF8, MATER, PAN11, CLR19.8	uc002qmj.3	P59047	OTTHUMG00000149887	ENST00000390649.3:c.2270C>A	19.37:g.56539869C>A	ENSP00000375063:p.Pro757His					NLRP5_uc002qmi.2_Missense_Mutation_p.P738H	p.P757H	NM_153447	NP_703148	P59047	NALP5_HUMAN		GBM - Glioblastoma multiforme(193;0.0326)	7	2270	+		Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157)	757					A8MTY4|Q86W29	Missense_Mutation	SNP	ENST00000390649.3	37	c.2270C>A	CCDS12938.1	.	.	.	.	.	.	.	.	.	.	C	11.25	1.582771	0.28268	.	.	ENSG00000171487	ENST00000390649	D	0.87966	-2.32	2.98	0.848	0.18966	.	0.993853	0.08148	N	0.990500	D	0.88588	0.6477	L	0.60455	1.87	0.09310	N	1	D	0.64830	0.994	P	0.57911	0.829	T	0.75605	-0.3260	10	0.49607	T	0.09	.	4.8616	0.13587	0.0:0.7081:0.0:0.2919	.	757	P59047	NALP5_HUMAN	H	757	ENSP00000375063:P757H	ENSP00000375063:P757H	P	+	2	0	NLRP5	61231681	0.000000	0.05858	0.001000	0.08648	0.002000	0.02628	0.049000	0.14099	0.304000	0.22809	0.561000	0.74099	CCT		PASS	0.527	NLRP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313735.1	NM_153447		178	599	178	599	---	---	---	---
ZNF773	374928	broad.mit.edu	37	19	58018583	58018583	+	Missense_Mutation	SNP	C	C	G			TCGA-22-4595-01A-01D-1267-08	TCGA-22-4595-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7fcf5123-2d1b-4666-9d39-a1aaf63cf954	850e8a4d-e0f6-4bd6-80f5-1c20e2b0e4f9	g.chr19:58018583C>G	ENST00000282292.4	+	4	1260	c.1120C>G	c.(1120-1122)Ctc>Gtc	p.L374V	ZNF773_ENST00000598770.1_Missense_Mutation_p.L373V|ZNF773_ENST00000593916.1_Intron|ZNF773_ENST00000599847.1_Intron	NM_198542.1	NP_940944.1	Q6PK81	ZN773_HUMAN	zinc finger protein 773	374					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.L374V(1)		breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	22		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0254)		AAGCTCAAGCCTCATGCAACA	0.418																																						uc002qox.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1120-1122)CTC>GTC		zinc finger protein 773							115.0	117.0	116.0					19																	58018583		2203	4300	6503	SO:0001583	missense	374928				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:58018583C>G	BC005167	CCDS33134.1	19q13.43	2013-01-08	2006-12-15	2006-12-15		ENSG00000152439		"""Zinc fingers, C2H2-type"", ""-"""	30487	protein-coding gene	gene with protein product			"""zinc finger protein 419B"""	ZNF419B		12477932	Standard	NM_198542		Approved	MGC4728	uc002qox.3	Q6PK81		ENST00000282292.4:c.1120C>G	19.37:g.58018583C>G	ENSP00000282292:p.Leu374Val					ZNF547_uc002qpm.3_Intron|ZNF773_uc002qoy.2_Missense_Mutation_p.L373V|ZNF773_uc002qoz.2_Intron	p.L374V	NM_198542	NP_940944	Q6PK81	ZN773_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0254)	4	1260	+		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)	374			C2H2-type 7.		Q96DL8	Missense_Mutation	SNP	ENST00000282292.4	37	c.1120C>G	CCDS33134.1	.	.	.	.	.	.	.	.	.	.	C	8.121	0.780921	0.16120	.	.	ENSG00000152439	ENST00000282292	T	0.52983	0.64	1.09	1.09	0.20402	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.67477	0.2897	M	0.88842	2.985	0.09310	N	1	D;D	0.89917	1.0;0.998	D;D	0.79108	0.984;0.992	T	0.52601	-0.8554	9	0.72032	D	0.01	.	5.3461	0.16010	0.0:0.7909:0.0:0.2091	.	373;374	Q6PK81-2;Q6PK81	.;ZN773_HUMAN	V	374	ENSP00000282292:L374V	ENSP00000282292:L374V	L	+	1	0	ZNF773	62710395	0.070000	0.21116	0.011000	0.14972	0.461000	0.32589	0.488000	0.22371	0.880000	0.35969	0.305000	0.20034	CTC		PASS	0.418	ZNF773-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000466475.1	NM_198542		122	453	122	453	---	---	---	---
C19orf18	147685	broad.mit.edu	37	19	58470001	58470001	+	Missense_Mutation	SNP	G	G	A	rs139357251	byFrequency	TCGA-22-4595-01A-01D-1267-08	TCGA-22-4595-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7fcf5123-2d1b-4666-9d39-a1aaf63cf954	850e8a4d-e0f6-4bd6-80f5-1c20e2b0e4f9	g.chr19:58470001G>A	ENST00000314391.3	-	6	718	c.617C>T	c.(616-618)gCg>gTg	p.A206V		NM_152474.4	NP_689687.1	Q8NEA5	CS018_HUMAN	chromosome 19 open reading frame 18	206						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)		p.A206V(1)		large_intestine(2)|lung(3)|ovary(1)|pancreas(1)|prostate(1)	8		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.017)		ATTATGTGACGCATTCTTTGT	0.403													G|||	6	0.00119808	0.0	0.0	5008	,	,		17255	0.0		0.0	False		,,,				2504	0.0061					uc002qqv.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(616-618)GCG>GTG		hypothetical protein LOC147685 precursor		G	VAL/ALA	1,4405	2.1+/-5.4	0,1,2202	71.0	67.0	69.0		617	-2.2	0.0	19	dbSNP_134	69	1,8599	1.2+/-3.3	0,1,4299	no	missense	C19orf18	NM_152474.4	64	0,2,6501	AA,AG,GG		0.0116,0.0227,0.0154	benign	206/216	58470001	2,13004	2203	4300	6503	SO:0001583	missense	147685					integral to membrane		g.chr19:58470001G>A	BC033933	CCDS12967.1	19q13.43	2013-03-11			ENSG00000177025	ENSG00000177025			28642	protein-coding gene	gene with protein product						12477932	Standard	NM_152474		Approved	MGC41906	uc002qqv.3	Q8NEA5	OTTHUMG00000183450	ENST00000314391.3:c.617C>T	19.37:g.58470001G>A	ENSP00000321519:p.Ala206Val						p.A206V	NM_152474	NP_689687	Q8NEA5	CS018_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.017)	6	721	-		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)	206			Cytoplasmic (Potential).			Missense_Mutation	SNP	ENST00000314391.3	37	c.617C>T	CCDS12967.1	.	.	.	.	.	.	.	.	.	.	G	13.71	2.319556	0.41096	2.27E-4	1.16E-4	ENSG00000177025	ENST00000314391	T	0.50277	0.75	2.96	-2.15	0.07102	.	.	.	.	.	T	0.20618	0.0496	N	0.14661	0.345	0.09310	N	1	B	0.27498	0.18	B	0.15484	0.013	T	0.12785	-1.0534	9	0.30078	T	0.28	-6.121	0.7039	0.00912	0.238:0.1861:0.3857:0.1901	.	206	Q8NEA5	CS018_HUMAN	V	206	ENSP00000321519:A206V	ENSP00000321519:A206V	A	-	2	0	C19orf18	63161813	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.105000	0.10907	-0.305000	0.08831	-0.458000	0.05436	GCG		PASS	0.403	C19orf18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466704.1	NM_152474		13	62	13	62	---	---	---	---
ZNF446	55663	broad.mit.edu	37	19	58991801	58991801	+	Missense_Mutation	SNP	A	A	T			TCGA-22-4595-01A-01D-1267-08	TCGA-22-4595-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7fcf5123-2d1b-4666-9d39-a1aaf63cf954	850e8a4d-e0f6-4bd6-80f5-1c20e2b0e4f9	g.chr19:58991801A>T	ENST00000594369.1	+	7	1442	c.1061A>T	c.(1060-1062)cAc>cTc	p.H354L	ZNF446_ENST00000335841.4_Missense_Mutation_p.T326S|ZNF446_ENST00000596341.1_Missense_Mutation_p.H303L	NM_017908.2	NP_060378.1	Q9NWS9	ZN446_HUMAN	zinc finger protein 446	354					regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	extracellular space (GO:0005615)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)	p.H354L(1)		endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|skin(1)	8		all_cancers(17;1.81e-17)|all_epithelial(17;1.21e-12)|Lung NSC(17;2.8e-05)|all_lung(17;0.000139)|Colorectal(82;0.000147)|Renal(17;0.00528)|all_neural(62;0.0133)|Ovarian(87;0.156)|Medulloblastoma(540;0.232)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0164)|Lung(386;0.179)		CACCGGACACACACGAGTGGG	0.667																																						uc002qsz.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1060-1062)CAC>CTC		zinc finger protein 446							34.0	32.0	33.0					19																	58991801		2203	4300	6503	SO:0001583	missense	55663				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:58991801A>T		CCDS12982.1	19q13.43	2013-01-09				ENSG00000083838		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	21036	protein-coding gene	gene with protein product							Standard	NM_017908		Approved	ZKSCAN20, FLJ20626, ZSCAN52	uc002qsz.3	Q9NWS9		ENST00000594369.1:c.1061A>T	19.37:g.58991801A>T	ENSP00000472802:p.His354Leu					ZNF446_uc002qta.2_Missense_Mutation_p.T326S|ZNF446_uc010eur.2_3'UTR|SLC27A5_uc002qtb.2_RNA	p.H354L	NM_017908	NP_060378	Q9NWS9	ZN446_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0164)|Lung(386;0.179)	7	1178	+		all_cancers(17;1.81e-17)|all_epithelial(17;1.21e-12)|Lung NSC(17;2.8e-05)|all_lung(17;0.000139)|Colorectal(82;0.000147)|Renal(17;0.00528)|all_neural(62;0.0133)|Ovarian(87;0.156)|Medulloblastoma(540;0.232)	354			C2H2-type 1.			Missense_Mutation	SNP	ENST00000594369.1	37	c.1061A>T	CCDS12982.1	.	.	.	.	.	.	.	.	.	.	A	18.71	3.681411	0.68042	.	.	ENSG00000083838	ENST00000335841;ENST00000540481;ENST00000391694	.	.	.	3.62	3.62	0.41486	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.39020	N	0.001486	T	0.53142	0.1778	M	0.76574	2.34	0.09310	N	1	P	0.42357	0.777	P	0.46049	0.502	T	0.53592	-0.8417	9	0.87932	D	0	-33.7493	10.8353	0.46683	1.0:0.0:0.0:0.0	.	354	Q9NWS9	ZN446_HUMAN	L	354;354;251	.	ENSP00000336565:H354L	H	+	2	0	ZNF446	63683613	0.002000	0.14202	0.011000	0.14972	0.535000	0.34838	1.430000	0.34914	1.869000	0.54173	0.454000	0.30748	CAC		PASS	0.667	ZNF446-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000467052.1	NM_017908		11	44	11	44	---	---	---	---
SLC27A5	10998	broad.mit.edu	37	19	59011000	59011000	+	Missense_Mutation	SNP	C	C	T			TCGA-22-4595-01A-01D-1267-08	TCGA-22-4595-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7fcf5123-2d1b-4666-9d39-a1aaf63cf954	850e8a4d-e0f6-4bd6-80f5-1c20e2b0e4f9	g.chr19:59011000C>T	ENST00000263093.2	-	7	1635	c.1526G>A	c.(1525-1527)cGc>cAc	p.R509H	SLC27A5_ENST00000601355.1_Missense_Mutation_p.R425H|SLC27A5_ENST00000594786.1_5'Flank|SLC27A5_ENST00000599700.1_5'Flank	NM_012254.2	NP_036386.1	Q9Y2P5	S27A5_HUMAN	solute carrier family 27 (fatty acid transporter), member 5	509					bile acid and bile salt transport (GO:0015721)|bile acid biosynthetic process (GO:0006699)|bile acid metabolic process (GO:0008206)|ketone body biosynthetic process (GO:0046951)|plasma membrane long-chain fatty acid transport (GO:0015911)|small molecule metabolic process (GO:0044281)|triglyceride mobilization (GO:0006642)|very long-chain fatty acid metabolic process (GO:0000038)	basal plasma membrane (GO:0009925)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)|protein complex (GO:0043234)	ATP binding (GO:0005524)|cholate-CoA ligase activity (GO:0047747)|fatty acid transporter activity (GO:0015245)|very long-chain fatty acid-CoA ligase activity (GO:0031957)	p.R509H(1)		central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	19		all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0168)|Lung(386;0.181)		TCGGGGGCCGCGGTAGCCCAC	0.657																																						uc002qtc.2																			1	Substitution - Missense(1)		lung(1)		0						c.(1525-1527)CGC>CAC		solute carrier family 27 (fatty acid							79.0	77.0	77.0					19																	59011000		2203	4299	6502	SO:0001583	missense	10998				bile acid and bile salt transport|bile acid biosynthetic process|very long-chain fatty acid metabolic process	endoplasmic reticulum membrane|integral to membrane	ATP binding|cholate-CoA ligase activity|long-chain fatty acid-CoA ligase activity	g.chr19:59011000C>T	AF064255	CCDS12983.1	19q13.43	2013-07-15			ENSG00000083807	ENSG00000083807		"""Acyl-CoA synthetase family"", ""Solute carriers"""	10999	protein-coding gene	gene with protein product	"""fatty-acid-Coenzyme A ligase, very long-chain 3"""	603314				10479480, 10749848	Standard	NM_012254		Approved	FATP5, VLACSR, VLCS-H2, VLCSH2, FACVL3, FLJ22987, ACSVL6, ACSB	uc002qtc.2	Q9Y2P5	OTTHUMG00000183543	ENST00000263093.2:c.1526G>A	19.37:g.59011000C>T	ENSP00000263093:p.Arg509His					SLC27A5_uc002qtb.2_5'Flank	p.R509H	NM_012254	NP_036386	Q9Y2P5	S27A5_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0168)|Lung(386;0.181)	7	1636	-		all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184)	509			Cytoplasmic (Probable).		B3KVP6|B4DPQ1	Missense_Mutation	SNP	ENST00000263093.2	37	c.1526G>A	CCDS12983.1	.	.	.	.	.	.	.	.	.	.	C	16.83	3.231272	0.58777	.	.	ENSG00000083807	ENST00000263093	T	0.39406	1.08	5.26	1.87	0.25490	AMP-dependent synthetase/ligase (1);	0.384512	0.26788	N	0.022488	T	0.25457	0.0619	L	0.31476	0.935	0.23806	N	0.996796	B	0.22080	0.064	B	0.20955	0.032	T	0.14062	-1.0486	10	0.59425	D	0.04	-18.0939	3.7825	0.08686	0.1936:0.6077:0.0:0.1987	.	509	Q9Y2P5	S27A5_HUMAN	H	509	ENSP00000263093:R509H	ENSP00000263093:R509H	R	-	2	0	SLC27A5	63702812	0.879000	0.30193	0.885000	0.34714	0.889000	0.51656	1.349000	0.33998	1.363000	0.46019	0.462000	0.41574	CGC		PASS	0.657	SLC27A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000467060.1	NM_012254		51	195	51	195	---	---	---	---
CFAP61	26074	broad.mit.edu	37	20	20278922	20278922	+	Missense_Mutation	SNP	G	G	T			TCGA-22-4595-01A-01D-1267-08	TCGA-22-4595-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7fcf5123-2d1b-4666-9d39-a1aaf63cf954	850e8a4d-e0f6-4bd6-80f5-1c20e2b0e4f9	g.chr20:20278922G>T	ENST00000245957.5	+	25	3390	c.3314G>T	c.(3313-3315)aGg>aTg	p.R1105M	C20orf26_ENST00000377309.2_3'UTR	NM_015585.3	NP_056400.3	Q8NHU2	CT026_HUMAN		1105								p.R1105M(1)		NS(2)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(42)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	77				READ - Rectum adenocarcinoma(2;0.171)		TGCCTTTCTAGGGAGCCCTTC	0.478																																						uc002wru.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|pancreas(1)	4						c.(3313-3315)AGG>ATG		hypothetical protein LOC26074							76.0	70.0	72.0					20																	20278922		2203	4300	6503	SO:0001583	missense	26074							g.chr20:20278922G>T																												ENST00000245957.5:c.3314G>T	20.37:g.20278922G>T	ENSP00000245957:p.Arg1105Met					C20orf26_uc002wrw.2_RNA	p.R1105M	NM_015585	NP_056400	Q8NHU2	CT026_HUMAN		READ - Rectum adenocarcinoma(2;0.171)	25	3390	+			1105					A6NHA1|Q5JXV4|Q5TE18|Q8N5R9|Q96M59|Q9BQL2|Q9H127|Q9H128|Q9NQH4|Q9UFV8|Q9Y4V7	Missense_Mutation	SNP	ENST00000245957.5	37	c.3314G>T	CCDS33447.1	.	.	.	.	.	.	.	.	.	.	G	8.508	0.865926	0.17250	.	.	ENSG00000089101	ENST00000343997;ENST00000389655;ENST00000245957	T	0.49139	0.79	5.27	0.325	0.15903	.	0.724675	0.13424	N	0.388894	T	0.29458	0.0734	N	0.24115	0.695	0.09310	N	1	P	0.39696	0.683	B	0.37198	0.243	T	0.13818	-1.0495	10	0.72032	D	0.01	.	6.6068	0.22729	0.6159:0.1179:0.2662:0.0	.	1105	Q8NHU2	CT026_HUMAN	M	1045;1071;1105	ENSP00000245957:R1105M	ENSP00000245957:R1105M	R	+	2	0	C20orf26	20226922	0.001000	0.12720	0.005000	0.12908	0.019000	0.09904	0.805000	0.27112	0.095000	0.17434	-0.982000	0.02568	AGG		PASS	0.478	C20orf26-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078228.3			29	91	29	91	---	---	---	---
XKR7	343702	broad.mit.edu	37	20	30584385	30584385	+	Missense_Mutation	SNP	G	G	A			TCGA-22-4595-01A-01D-1267-08	TCGA-22-4595-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7fcf5123-2d1b-4666-9d39-a1aaf63cf954	850e8a4d-e0f6-4bd6-80f5-1c20e2b0e4f9	g.chr20:30584385G>A	ENST00000562532.2	+	3	1039	c.865G>A	c.(865-867)Gac>Aac	p.D289N		NM_001011718.1	NP_001011718.1	Q5GH72	XKR7_HUMAN	XK, Kell blood group complex subunit-related family, member 7	289						integral component of membrane (GO:0016021)		p.D289N(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|liver(1)|lung(19)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	34			Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347)			GGACTCGCGGGACGACAAGCG	0.701																																						uc002wxe.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|breast(1)|skin(1)	3						c.(865-867)GAC>AAC		XK, Kell blood group complex subunit-related							30.0	31.0	31.0					20																	30584385		2203	4300	6503	SO:0001583	missense	343702					integral to membrane		g.chr20:30584385G>A	AY534245	CCDS33459.1	20q11.21	2014-07-16	2006-01-12		ENSG00000260903	ENSG00000260903			23062	protein-coding gene	gene with protein product			"""X Kell blood group precursor-related family, member 7"", ""chromosome 20 open reading frame 159"""	C20orf159			Standard	NM_001011718		Approved	dJ310O13.4	uc002wxe.3	Q5GH72	OTTHUMG00000032198	ENST00000562532.2:c.865G>A	20.37:g.30584385G>A	ENSP00000477059:p.Asp289Asn						p.D289N	NM_001011718	NP_001011718	Q5GH72	XKR7_HUMAN	Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347)		3	1039	+			289					Q9NUG5	Missense_Mutation	SNP	ENST00000562532.2	37	c.865G>A	CCDS33459.1	.	.	.	.	.	.	.	.	.	.	g	28.9	4.962658	0.92791	.	.	ENSG00000101321	ENST00000217299	T	0.66460	-0.21	5.04	5.04	0.67666	.	0.047561	0.85682	D	0.000000	T	0.75781	0.3896	M	0.83012	2.62	0.80722	D	1	P	0.45428	0.858	P	0.46940	0.532	T	0.80591	-0.1314	10	0.59425	D	0.04	.	17.3663	0.87365	0.0:0.0:1.0:0.0	.	289	Q5GH72	XKR7_HUMAN	N	289	ENSP00000217299:D289N	ENSP00000217299:D289N	D	+	1	0	XKR7	30048046	1.000000	0.71417	0.269000	0.24586	0.923000	0.55619	9.859000	0.99545	2.350000	0.79820	0.556000	0.70494	GAC		PASS	0.701	XKR7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078597.3	NM_001011718		14	33	14	33	---	---	---	---
TRPC4AP	26133	broad.mit.edu	37	20	33623037	33623037	+	Missense_Mutation	SNP	C	C	A			TCGA-22-4595-01A-01D-1267-08	TCGA-22-4595-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7fcf5123-2d1b-4666-9d39-a1aaf63cf954	850e8a4d-e0f6-4bd6-80f5-1c20e2b0e4f9	g.chr20:33623037C>A	ENST00000252015.2	-	8	1029	c.940G>T	c.(940-942)Ggc>Tgc	p.G314C	TRPC4AP_ENST00000432634.2_Missense_Mutation_p.G275C|TRPC4AP_ENST00000451813.2_Missense_Mutation_p.G314C|TRPC4AP_ENST00000539834.1_5'UTR			Q8TEL6	TP4AP_HUMAN	transient receptor potential cation channel, subfamily C, member 4 associated protein	314	Interaction with TNFRSF1A. {ECO:0000250}.				calcium ion transmembrane transport (GO:0070588)|ion transmembrane transport (GO:0034220)|protein ubiquitination (GO:0016567)|transmembrane transport (GO:0055085)|ubiquitin-dependent protein catabolic process (GO:0006511)	Cul4A-RING E3 ubiquitin ligase complex (GO:0031464)|plasma membrane (GO:0005886)	phosphatase binding (GO:0019902)	p.G314C(1)		breast(3)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|skin(1)|stomach(1)|urinary_tract(1)	32			BRCA - Breast invasive adenocarcinoma(18;0.00936)			CTGGCTGTGCCCGTTGACTCT	0.542																																						uc002xbk.2																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)|skin(1)	2						c.(940-942)GGC>TGC		TRPC4-associated protein isoform a							144.0	121.0	128.0					20																	33623037		2203	4300	6503	SO:0001583	missense	26133				protein ubiquitination|ubiquitin-dependent protein catabolic process	Cul4A-RING ubiquitin ligase complex	protein binding	g.chr20:33623037C>A	AF055022	CCDS13246.1, CCDS46591.1	20q11.23	2014-06-13	2003-10-06	2003-10-08	ENSG00000100991	ENSG00000100991			16181	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 158"""	608430	"""chromosome 20 open reading frame 188"""	C20orf188			Standard	NM_015638		Approved	DKFZP727M231, DKFZp586C1223, dJ756N5.2, TRRP4AP, PPP1R158	uc002xbk.3	Q8TEL6	OTTHUMG00000032319	ENST00000252015.2:c.940G>T	20.37:g.33623037C>A	ENSP00000252015:p.Gly314Cys					TRPC4AP_uc010zuq.1_5'UTR|TRPC4AP_uc002xbl.2_Missense_Mutation_p.G314C|TRPC4AP_uc010zur.1_Missense_Mutation_p.G275C|TRPC4AP_uc002xbm.1_Missense_Mutation_p.G314C	p.G314C	NM_015638	NP_056453	Q8TEL6	TP4AP_HUMAN	BRCA - Breast invasive adenocarcinoma(18;0.00936)		8	974	-			314			Interaction with TNFRSF1A (By similarity).		E1P5Q0|E1P5Q1|Q96H82|Q9BVB8|Q9H429|Q9UFS6	Missense_Mutation	SNP	ENST00000252015.2	37	c.940G>T	CCDS13246.1	.	.	.	.	.	.	.	.	.	.	C	27.4	4.823542	0.90873	.	.	ENSG00000100991	ENST00000252015;ENST00000451813;ENST00000432634;ENST00000541994	.	.	.	5.49	5.49	0.81192	.	0.048979	0.85682	D	0.000000	T	0.65270	0.2675	L	0.44542	1.39	0.80722	D	1	D;D;D	0.71674	0.994;0.998;0.998	P;P;P	0.54460	0.753;0.628;0.747	T	0.67589	-0.5632	9	0.66056	D	0.02	.	19.3723	0.94493	0.0:1.0:0.0:0.0	.	275;314;314	B4E0Q1;E1P5Q0;Q8TEL6	.;.;TP4AP_HUMAN	C	314;314;275;299	.	ENSP00000252015:G314C	G	-	1	0	TRPC4AP	33086698	1.000000	0.71417	0.997000	0.53966	0.896000	0.52359	7.355000	0.79434	2.587000	0.87381	0.557000	0.71058	GGC		PASS	0.542	TRPC4AP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078832.2	NM_015638		56	160	56	160	---	---	---	---
B4GALT5	9334	broad.mit.edu	37	20	48330202	48330202	+	Missense_Mutation	SNP	C	C	A			TCGA-22-4595-01A-01D-1267-08	TCGA-22-4595-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7fcf5123-2d1b-4666-9d39-a1aaf63cf954	850e8a4d-e0f6-4bd6-80f5-1c20e2b0e4f9	g.chr20:48330202C>A	ENST00000371711.4	-	1	213	c.26G>T	c.(25-27)cGg>cTg	p.R9L		NM_004776.3	NP_004767.1	O43286	B4GT5_HUMAN	UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 5	9					carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate metabolic process (GO:0042339)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	galactosyltransferase activity (GO:0008378)|metal ion binding (GO:0046872)	p.R9L(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	20			BRCA - Breast invasive adenocarcinoma(9;2.51e-06)			GCGCGGCAGCCGCAGCAGCCC	0.726																																						uc002xuu.3																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(25-27)CGG>CTG		UDP-Gal:betaGlcNAc beta 1,4-							3.0	6.0	5.0					20																	48330202		1716	3656	5372	SO:0001583	missense	9334				post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi cisterna membrane|integral to membrane	galactosyltransferase activity|metal ion binding	g.chr20:48330202C>A	AB004550	CCDS13420.1	20q13.1-q13.2	2013-02-19			ENSG00000158470	ENSG00000158470		"""Beta 4-glycosyltransferases"""	928	protein-coding gene	gene with protein product	"""beta4-GalT IV"""	604016				9597550, 9435216	Standard	NM_004776		Approved	beta4GalT-V	uc002xuu.4	O43286	OTTHUMG00000033086	ENST00000371711.4:c.26G>T	20.37:g.48330202C>A	ENSP00000360776:p.Arg9Leu						p.R9L	NM_004776	NP_004767	O43286	B4GT5_HUMAN	BRCA - Breast invasive adenocarcinoma(9;2.51e-06)		1	220	-			9			Cytoplasmic (Potential).		E1P625|Q2M394|Q9UJQ8	Missense_Mutation	SNP	ENST00000371711.4	37	c.26G>T	CCDS13420.1	.	.	.	.	.	.	.	.	.	.	C	16.97	3.270006	0.59540	.	.	ENSG00000158470	ENST00000371711	T	0.43688	0.94	2.64	2.64	0.31445	.	0.345297	0.26029	N	0.026764	T	0.32346	0.0826	M	0.62723	1.935	0.58432	D	0.999996	P	0.38677	0.642	B	0.19148	0.024	T	0.35450	-0.9788	10	0.44086	T	0.13	0.6227	12.0985	0.53769	0.0:1.0:0.0:0.0	.	9	O43286	B4GT5_HUMAN	L	9	ENSP00000360776:R9L	ENSP00000360776:R9L	R	-	2	0	B4GALT5	47763609	1.000000	0.71417	0.992000	0.48379	0.699000	0.40488	1.352000	0.34033	1.321000	0.45227	0.163000	0.16589	CGG		PASS	0.726	B4GALT5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080543.3	NM_004776		2	0	2	0	---	---	---	---
CHODL	140578	broad.mit.edu	37	21	19635169	19635169	+	Silent	SNP	G	G	A			TCGA-22-4595-01A-01D-1267-08	TCGA-22-4595-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7fcf5123-2d1b-4666-9d39-a1aaf63cf954	850e8a4d-e0f6-4bd6-80f5-1c20e2b0e4f9	g.chr21:19635169G>A	ENST00000299295.2	+	5	1087	c.696G>A	c.(694-696)ctG>ctA	p.L232L	CHODL_ENST00000338326.3_Intron|CHODL_ENST00000400128.1_Silent_p.L191L|CHODL_ENST00000400127.1_Silent_p.L191L|CHODL_ENST00000543733.1_Silent_p.L213L|CHODL_ENST00000400131.1_Intron|CHODL_ENST00000400135.1_Intron	NM_001204175.1|NM_024944.2	NP_001191104.1|NP_079220.2	Q9H9P2	CHODL_HUMAN	chondrolectin	232					muscle organ development (GO:0007517)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)	carbohydrate binding (GO:0030246)	p.L232L(1)		kidney(1)|large_intestine(3)|lung(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	12		all_epithelial(11;0.21)		Epithelial(23;0.000191)|all cancers(11;0.000827)|LUSC - Lung squamous cell carcinoma(23;0.00646)|Lung(58;0.0129)|OV - Ovarian serous cystadenocarcinoma(11;0.017)|COAD - Colon adenocarcinoma(22;0.03)|Colorectal(24;0.0917)		TACTGATACTGGTTGCTTTTG	0.313																																						uc002ykv.2																			1	Substitution - coding silent(1)		lung(1)	upper_aerodigestive_tract(1)	1						c.(694-696)CTG>CTA		chondrolectin precursor							127.0	127.0	127.0					21																	19635169		2203	4297	6500	SO:0001819	synonymous_variant	140578				muscle organ development	integral to membrane|perinuclear region of cytoplasm	sugar binding	g.chr21:19635169G>A	AF257472	CCDS13570.1, CCDS56208.1, CCDS56209.1, CCDS56210.1	21q11.2	2006-04-03	2002-07-04		ENSG00000154645	ENSG00000154645			17807	protein-coding gene	gene with protein product		607247	"""chromosome 21 open reading frame 68"""	C21orf68		12079284	Standard	NM_024944		Approved	FLJ12627, PRED12, MT75	uc021whs.1	Q9H9P2	OTTHUMG00000074519	ENST00000299295.2:c.696G>A	21.37:g.19635169G>A						CHODL_uc002ykr.2_Silent_p.L191L|CHODL_uc002yks.2_Silent_p.L191L|CHODL_uc002ykt.2_Intron|CHODL_uc002yku.2_Intron	p.L232L	NM_024944	NP_079220	Q9H9P2	CHODL_HUMAN		Epithelial(23;0.000191)|all cancers(11;0.000827)|LUSC - Lung squamous cell carcinoma(23;0.00646)|Lung(58;0.0129)|OV - Ovarian serous cystadenocarcinoma(11;0.017)|COAD - Colon adenocarcinoma(22;0.03)|Colorectal(24;0.0917)	5	1087	+		all_epithelial(11;0.21)	232			Helical; (Potential).		B2R9C0|B4DJB8|Q7Z798|Q7Z799|Q7Z7A0|Q9HCY3	Silent	SNP	ENST00000299295.2	37	c.696G>A	CCDS13570.1																																																																																				PASS	0.313	CHODL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000158232.1	NM_024944		32	128	32	128	---	---	---	---
NCAM2	4685	broad.mit.edu	37	21	22782636	22782637	+	Missense_Mutation	DNP	GG	GG	TT			TCGA-22-4595-01A-01D-1267-08	TCGA-22-4595-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7fcf5123-2d1b-4666-9d39-a1aaf63cf954	850e8a4d-e0f6-4bd6-80f5-1c20e2b0e4f9	g.chr21:22782636_22782637GG>TT	ENST00000400546.1	+	10	1487_1488	c.1238_1239GG>TT	c.(1237-1239)tGG>tTT	p.W413F	NCAM2_ENST00000284894.7_Missense_Mutation_p.W271F	NM_004540.3	NP_004531.2	O15394	NCAM2_HUMAN	neural cell adhesion molecule 2	413	Ig-like C2-type 5.				axonal fasciculation (GO:0007413)|neuron cell-cell adhesion (GO:0007158)|sensory perception of smell (GO:0007608)	axon (GO:0030424)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.W413F(1)|p.W413L(1)|p.W413C(1)		breast(4)|cervix(2)|endometrium(8)|kidney(6)|large_intestine(22)|liver(4)|lung(49)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	108		Lung NSC(9;0.195)		all cancers(11;0.00102)|OV - Ovarian serous cystadenocarcinoma(11;0.00121)|Epithelial(23;0.00147)|Colorectal(24;0.174)		TATTACTCTTGGGAAGGAAATC	0.297																																						uc002yld.1																			3	Substitution - Missense(3)		lung(3)	ovary(4)	4						c.(1237-1239)TGG>TTG|c.(1237-1239)TGG>TGT		neural cell adhesion molecule 2 precursor																																				SO:0001583	missense	4685				neuron cell-cell adhesion	integral to membrane|plasma membrane		g.chr21:22782636G>T|g.chr21:22782637G>T		CCDS42910.1	21q21	2013-02-11			ENSG00000154654	ENSG00000154654		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	7657	protein-coding gene	gene with protein product		602040				9226371	Standard	NM_004540		Approved	NCAM21, MGC51008	uc002yld.2	O15394	OTTHUMG00000078121	Exception_encountered	21.37:g.22782636_22782637delinsTT	ENSP00000383392:p.Trp413Phe					NCAM2_uc011acb.1_Missense_Mutation_p.W271L|NCAM2_uc011acb.1_Missense_Mutation_p.W271C	p.W413L|p.W413C	NM_004540	NP_004531	O15394	NCAM2_HUMAN		all cancers(11;0.00102)|OV - Ovarian serous cystadenocarcinoma(11;0.00121)|Epithelial(23;0.00147)|Colorectal(24;0.174)	10	1487|1488	+		Lung NSC(9;0.195)	413			Ig-like C2-type 5.|Extracellular (Potential).		A8MQ06|B7Z841|Q7Z7F2	Missense_Mutation	SNP	ENST00000400546.1	37	c.1238G>T|c.1239G>T	CCDS42910.1																																																																																				PASS	0.297	NCAM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000170915.1	NM_004540		13|14	64	13	64	---	---	---	---
MTMR3	8897	broad.mit.edu	37	22	30416442	30416442	+	Missense_Mutation	SNP	C	C	A			TCGA-22-4595-01A-01D-1267-08	TCGA-22-4595-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7fcf5123-2d1b-4666-9d39-a1aaf63cf954	850e8a4d-e0f6-4bd6-80f5-1c20e2b0e4f9	g.chr22:30416442C>A	ENST00000401950.2	+	17	3136	c.2794C>A	c.(2794-2796)Cca>Aca	p.P932T	CTA-85E5.10_ENST00000453743.2_RNA|MTMR3_ENST00000323630.5_Missense_Mutation_p.P796T|MTMR3_ENST00000406629.1_Missense_Mutation_p.P932T|MTMR3_ENST00000333027.3_Missense_Mutation_p.P932T|CTA-85E5.10_ENST00000429350.1_RNA|MTMR3_ENST00000351488.3_Missense_Mutation_p.P932T	NM_021090.3	NP_066576.1	Q13615	MTMR3_HUMAN	myotubularin related protein 3	932					peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|protein dephosphorylation (GO:0006470)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extrinsic component of membrane (GO:0019898)|membrane (GO:0016020)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|phosphatidylinositol-3,5-bisphosphate 3-phosphatase activity (GO:0052629)|phosphatidylinositol-3-phosphatase activity (GO:0004438)|protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine phosphatase activity (GO:0004725)	p.P932T(1)		breast(3)|large_intestine(3)|ovary(2)|skin(8)|upper_aerodigestive_tract(1)	17			OV - Ovarian serous cystadenocarcinoma(5;0.00204)|Epithelial(10;0.06)|all cancers(5;0.107)			CAATGGTGCCCCAGAGACTGA	0.582																																						uc003agv.3																			1	Substitution - Missense(1)		lung(1)	breast(3)|ovary(1)|skin(1)	5						c.(2794-2796)CCA>ACA		myotubularin-related protein 3 isoform c							81.0	76.0	78.0					22																	30416442		2203	4300	6503	SO:0001583	missense	8897				phosphatidylinositol dephosphorylation	cytoplasm|membrane|membrane fraction|nucleus	metal ion binding|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity	g.chr22:30416442C>A	U58034	CCDS13870.1, CCDS13871.1, CCDS46682.1	22q12.2	2011-06-09			ENSG00000100330	ENSG00000100330		"""Zinc fingers, FYVE domain containing"", ""Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"""	7451	protein-coding gene	gene with protein product		603558				8640223, 9736772	Standard	NM_153050		Approved	KIAA0371, ZFYVE10, FYVE-DSP1	uc003agv.4	Q13615	OTTHUMG00000151278	ENST00000401950.2:c.2794C>A	22.37:g.30416442C>A	ENSP00000384651:p.Pro932Thr					MTMR3_uc003agu.3_Missense_Mutation_p.P932T|MTMR3_uc003agw.3_Missense_Mutation_p.P932T	p.P932T	NM_021090	NP_066576	Q13615	MTMR3_HUMAN	OV - Ovarian serous cystadenocarcinoma(5;0.00204)|Epithelial(10;0.06)|all cancers(5;0.107)		17	3122	+			932					A5PL26|A7MD32|Q9NYN5|Q9NYN6|Q9UDX6|Q9UEG3	Missense_Mutation	SNP	ENST00000401950.2	37	c.2794C>A	CCDS13870.1	.	.	.	.	.	.	.	.	.	.	C	9.247	1.039789	0.19669	.	.	ENSG00000100330	ENST00000401950;ENST00000333027;ENST00000323630;ENST00000351488;ENST00000406629	D;D;D;D;D	0.92545	-2.86;-2.84;-3.06;-2.89;-2.84	5.04	5.04	0.67666	.	0.501982	0.21772	N	0.069357	D	0.85831	0.5788	N	0.14661	0.345	0.22571	N	0.998978	B;B;B	0.30361	0.066;0.181;0.277	B;B;B	0.32289	0.061;0.042;0.143	T	0.74970	-0.3482	10	0.27785	T	0.31	.	17.7421	0.88409	0.0:1.0:0.0:0.0	.	932;932;932	Q13615-3;Q13615;Q13615-2	.;MTMR3_HUMAN;.	T	932;932;796;932;932	ENSP00000384651:P932T;ENSP00000331649:P932T;ENSP00000318070:P796T;ENSP00000307271:P932T;ENSP00000384077:P932T	ENSP00000318070:P796T	P	+	1	0	MTMR3	28746442	0.976000	0.34144	0.998000	0.56505	0.989000	0.77384	2.537000	0.45702	2.502000	0.84385	0.655000	0.94253	CCA		PASS	0.582	MTMR3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000322066.1	NM_021090		5	214	5	214	---	---	---	---
INPP5J	27124	broad.mit.edu	37	22	31524495	31524495	+	Missense_Mutation	SNP	T	T	C			TCGA-22-4595-01A-01D-1267-08	TCGA-22-4595-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7fcf5123-2d1b-4666-9d39-a1aaf63cf954	850e8a4d-e0f6-4bd6-80f5-1c20e2b0e4f9	g.chr22:31524495T>C	ENST00000331075.5	+	9	2097	c.2048T>C	c.(2047-2049)cTa>cCa	p.L683P	INPP5J_ENST00000401755.1_Missense_Mutation_p.L48P|INPP5J_ENST00000404390.3_Missense_Mutation_p.L315P|INPP5J_ENST00000400294.2_Missense_Mutation_p.L316P|INPP5J_ENST00000412277.2_Missense_Mutation_p.L616P|INPP5J_ENST00000405300.1_Missense_Mutation_p.L316P|INPP5J_ENST00000404453.1_Missense_Mutation_p.L48P|INPP5J_ENST00000402238.1_Missense_Mutation_p.L48P	NM_001284285.1	NP_001271214.1	Q15735	PI5PA_HUMAN	inositol polyphosphate-5-phosphatase J	683	Catalytic. {ECO:0000255}.				inositol phosphate metabolic process (GO:0043647)|negative regulation of microtubule polymerization (GO:0031115)|negative regulation of neuron projection development (GO:0010977)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|growth cone (GO:0030426)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	inositol-1,3,4,5-tetrakisphosphate 5-phosphatase activity (GO:0052659)|inositol-1,4,5-trisphosphate 5-phosphatase activity (GO:0052658)|inositol-polyphosphate 5-phosphatase activity (GO:0004445)|phosphatidylinositol-3,4,5-trisphosphate 5-phosphatase activity (GO:0034485)	p.L683P(1)|p.L316P(1)		autonomic_ganglia(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(5)|skin(1)	12						GACCGTATCCTATGGAAGGTC	0.597																																						uc003aju.3																			2	Substitution - Missense(2)		lung(2)	skin(1)	1						c.(2047-2049)CTA>CCA		phosphatidylinositol (4,5) bisphosphate							36.0	41.0	39.0					22																	31524495		2010	4174	6184	SO:0001583	missense	27124					cytoplasm|ruffle	inositol 1,3,4,5-tetrakisphosphate 5-phosphatase activity|inositol-1,4,5-trisphosphate 5-phosphatase activity|inositol-polyphosphate 5-phosphatase activity|SH3 domain binding	g.chr22:31524495T>C	U45975	CCDS46687.1, CCDS63453.1, CCDS63454.1, CCDS63455.1, CCDS74847.1	22q12.2	2008-09-09	2008-09-09	2008-09-09	ENSG00000185133	ENSG00000185133			8956	protein-coding gene	gene with protein product		606481	"""phosphatidylinositol (4,5) bisphosphate 5-phosphatase, A"""	PIB5PA		10591208	Standard	NM_001284287		Approved	INPP5	uc003aju.4	Q15735	OTTHUMG00000151206	ENST00000331075.5:c.2048T>C	22.37:g.31524495T>C	ENSP00000333262:p.Leu683Pro					INPP5J_uc003ajv.3_Missense_Mutation_p.L316P|INPP5J_uc003ajs.3_Missense_Mutation_p.L316P|INPP5J_uc011alk.1_Missense_Mutation_p.L616P|INPP5J_uc010gwg.2_Missense_Mutation_p.L248P|INPP5J_uc003ajw.2_Missense_Mutation_p.L119P|INPP5J_uc003ajt.3_Missense_Mutation_p.L315P|INPP5J_uc003ajx.2_Missense_Mutation_p.L48P|INPP5J_uc003ajy.2_Missense_Mutation_p.L48P|INPP5J_uc003ajz.2_Missense_Mutation_p.L123P	p.L683P	NM_001002837	NP_001002837	Q15735	PI5PA_HUMAN			9	2140	+			683			Catalytic (Potential).		B3KS54|Q32M61|Q6ZTH6|Q8N902|Q9UDT9	Missense_Mutation	SNP	ENST00000331075.5	37	c.2048T>C		.	.	.	.	.	.	.	.	.	.	T	24.9	4.576565	0.86645	.	.	ENSG00000185133	ENST00000331075;ENST00000412277;ENST00000400294;ENST00000405300;ENST00000404390;ENST00000402238;ENST00000404453;ENST00000401755	D;D;D;D;D;D;D;D	0.86164	-2.08;-2.08;-2.08;-2.08;-2.08;-2.08;-2.08;-2.08	5.7	5.7	0.88788	Endonuclease/exonuclease/phosphatase (2);Inositol polyphosphate-related phosphatase (1);	0.000000	0.64402	D	0.000003	D	0.96312	0.8797	H	0.98446	4.235	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	0.97110	0.999;1.0;1.0;1.0;0.999	D	0.98012	1.0366	10	0.87932	D	0	.	15.9765	0.80071	0.0:0.0:0.0:1.0	.	316;48;616;683;315	Q15735-2;B5MCL8;B4DF95;Q15735;Q15735-3	.;.;.;PI5PA_HUMAN;.	P	683;616;316;316;315;48;48;48	ENSP00000333262:L683P;ENSP00000392924:L616P;ENSP00000383150:L316P;ENSP00000384596:L316P;ENSP00000384534:L315P;ENSP00000385264:L48P;ENSP00000385343:L48P;ENSP00000384540:L48P	ENSP00000333262:L683P	L	+	2	0	INPP5J	29854495	1.000000	0.71417	1.000000	0.80357	0.935000	0.57460	7.675000	0.84002	2.172000	0.68678	0.533000	0.62120	CTA		PASS	0.597	INPP5J-002	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000321784.1	NM_001002837		22	49	22	49	---	---	---	---
INPP5J	27124	broad.mit.edu	37	22	31524595	31524595	+	Silent	SNP	C	C	T			TCGA-22-4595-01A-01D-1267-08	TCGA-22-4595-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7fcf5123-2d1b-4666-9d39-a1aaf63cf954	850e8a4d-e0f6-4bd6-80f5-1c20e2b0e4f9	g.chr22:31524595C>T	ENST00000331075.5	+	9	2197	c.2148C>T	c.(2146-2148)taC>taT	p.Y716Y	INPP5J_ENST00000401755.1_Silent_p.Y81Y|INPP5J_ENST00000404390.3_Silent_p.Y348Y|INPP5J_ENST00000400294.2_Silent_p.Y349Y|INPP5J_ENST00000412277.2_Silent_p.Y649Y|INPP5J_ENST00000405300.1_Silent_p.Y349Y|INPP5J_ENST00000404453.1_Silent_p.Y81Y|INPP5J_ENST00000402238.1_Silent_p.Y81Y	NM_001284285.1	NP_001271214.1	Q15735	PI5PA_HUMAN	inositol polyphosphate-5-phosphatase J	716	Catalytic. {ECO:0000255}.				inositol phosphate metabolic process (GO:0043647)|negative regulation of microtubule polymerization (GO:0031115)|negative regulation of neuron projection development (GO:0010977)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|growth cone (GO:0030426)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	inositol-1,3,4,5-tetrakisphosphate 5-phosphatase activity (GO:0052659)|inositol-1,4,5-trisphosphate 5-phosphatase activity (GO:0052658)|inositol-polyphosphate 5-phosphatase activity (GO:0004445)|phosphatidylinositol-3,4,5-trisphosphate 5-phosphatase activity (GO:0034485)	p.Y716Y(1)|p.Y349Y(1)		autonomic_ganglia(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(5)|skin(1)	12						ACATGGAATACACAGTCAGCG	0.617																																						uc003aju.3																			2	Substitution - coding silent(2)		lung(2)	skin(1)	1						c.(2146-2148)TAC>TAT		phosphatidylinositol (4,5) bisphosphate							66.0	77.0	73.0					22																	31524595		2122	4225	6347	SO:0001819	synonymous_variant	27124					cytoplasm|ruffle	inositol 1,3,4,5-tetrakisphosphate 5-phosphatase activity|inositol-1,4,5-trisphosphate 5-phosphatase activity|inositol-polyphosphate 5-phosphatase activity|SH3 domain binding	g.chr22:31524595C>T	U45975	CCDS46687.1, CCDS63453.1, CCDS63454.1, CCDS63455.1, CCDS74847.1	22q12.2	2008-09-09	2008-09-09	2008-09-09	ENSG00000185133	ENSG00000185133			8956	protein-coding gene	gene with protein product		606481	"""phosphatidylinositol (4,5) bisphosphate 5-phosphatase, A"""	PIB5PA		10591208	Standard	NM_001284287		Approved	INPP5	uc003aju.4	Q15735	OTTHUMG00000151206	ENST00000331075.5:c.2148C>T	22.37:g.31524595C>T						INPP5J_uc003ajv.3_Silent_p.Y349Y|INPP5J_uc003ajs.3_Silent_p.Y349Y|INPP5J_uc011alk.1_Silent_p.Y649Y|INPP5J_uc010gwg.2_Silent_p.Y281Y|INPP5J_uc003ajw.2_Silent_p.Y152Y|INPP5J_uc003ajt.3_Silent_p.Y348Y|INPP5J_uc003ajx.2_Silent_p.Y81Y|INPP5J_uc003ajy.2_Silent_p.Y81Y|INPP5J_uc003ajz.2_Silent_p.Y156Y	p.Y716Y	NM_001002837	NP_001002837	Q15735	PI5PA_HUMAN			9	2240	+			716			Catalytic (Potential).		B3KS54|Q32M61|Q6ZTH6|Q8N902|Q9UDT9	Silent	SNP	ENST00000331075.5	37	c.2148C>T																																																																																					PASS	0.617	INPP5J-002	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000321784.1	NM_001002837		18	91	18	91	---	---	---	---
C22orf42	150297	broad.mit.edu	37	22	32545743	32545743	+	Missense_Mutation	SNP	G	G	T			TCGA-22-4595-01A-01D-1267-08	TCGA-22-4595-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7fcf5123-2d1b-4666-9d39-a1aaf63cf954	850e8a4d-e0f6-4bd6-80f5-1c20e2b0e4f9	g.chr22:32545743G>T	ENST00000382097.3	-	8	751	c.679C>A	c.(679-681)Ctc>Atc	p.L227I	C22orf42_ENST00000490640.1_5'UTR	NM_001010859.1	NP_001010859.1	Q6IC83	CV042_HUMAN	chromosome 22 open reading frame 42	227								p.L227I(1)		NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(2)	24						taCTTACAGAGGTAATCTTCA	0.313																																						uc003amd.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(679-681)CTC>ATC		chromosome 22 open reading frame 42							19.0	20.0	20.0					22																	32545743		2185	4290	6475	SO:0001583	missense	150297							g.chr22:32545743G>T	BC040263	CCDS33639.1	22q12.3	2009-03-05			ENSG00000205856	ENSG00000205856			27160	protein-coding gene	gene with protein product						12477932	Standard	XM_005261369		Approved		uc003amd.3	Q6IC83	OTTHUMG00000030380	ENST00000382097.3:c.679C>A	22.37:g.32545743G>T	ENSP00000371529:p.Leu227Ile						p.L227I	NM_001010859	NP_001010859	Q6IC83	CV042_HUMAN			8	720	-			227					A4QPH5	Missense_Mutation	SNP	ENST00000382097.3	37	c.679C>A	CCDS33639.1	.	.	.	.	.	.	.	.	.	.	G	2.694	-0.272528	0.05716	.	.	ENSG00000205856	ENST00000382097	T	0.25912	1.77	.	.	.	.	.	.	.	.	T	0.18467	0.0443	N	0.08118	0	0.09310	N	1	P	0.37398	0.593	P	0.48114	0.567	T	0.30966	-0.9960	7	0.87932	D	0	.	.	.	.	.	227	Q6IC83	CV042_HUMAN	I	227	ENSP00000371529:L227I	ENSP00000371529:L227I	L	-	1	0	C22orf42	30875743	0.027000	0.19231	0.150000	0.22450	0.216000	0.24613	0.220000	0.17660	0.064000	0.16427	0.064000	0.15345	CTC		PASS	0.313	C22orf42-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075268.2	NM_001010859		7	34	7	34	---	---	---	---
ISX	91464	broad.mit.edu	37	22	35463085	35463085	+	Missense_Mutation	SNP	G	G	T			TCGA-22-4595-01A-01D-1267-08	TCGA-22-4595-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7fcf5123-2d1b-4666-9d39-a1aaf63cf954	850e8a4d-e0f6-4bd6-80f5-1c20e2b0e4f9	g.chr22:35463085G>T	ENST00000308700.6	+	1	957	c.5G>T	c.(4-6)tGt>tTt	p.C2F	ISX_ENST00000404699.2_Missense_Mutation_p.C2F|RP1-272J12.1_ENST00000448318.4_RNA	NM_001008494.1	NP_001008494.1	Q2M1V0	ISX_HUMAN	intestine-specific homeobox	2					regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of vitamin A metabolic process (GO:1901738)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)	p.C2F(2)		breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(12)|ovary(3)|prostate(1)|skin(4)	26						CCCTCAATGTGTGCTGAGGTG	0.617																																						uc003anj.2																			2	Substitution - Missense(2)		lung(2)	ovary(3)|skin(2)	5						c.(4-6)TGT>TTT		intestine-specific homeobox							37.0	37.0	37.0					22																	35463085		2203	4300	6503	SO:0001583	missense	91464					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr22:35463085G>T	AK025181	CCDS33640.1	22q12.3	2011-06-20			ENSG00000175329	ENSG00000175329		"""Homeoboxes / PRD class"""	28084	protein-coding gene	gene with protein product		612019					Standard	NM_001008494		Approved	RAXLX	uc003anj.3	Q2M1V0	OTTHUMG00000150962	ENST00000308700.6:c.5G>T	22.37:g.35463085G>T	ENSP00000311492:p.Cys2Phe					ISX_uc011amg.1_5'UTR	p.C2F	NM_001008494	NP_001008494	Q2M1V0	ISX_HUMAN			1	956	+			2					Q68DJ5	Missense_Mutation	SNP	ENST00000308700.6	37	c.5G>T	CCDS33640.1	.	.	.	.	.	.	.	.	.	.	G	10.75	1.438799	0.25900	.	.	ENSG00000175329	ENST00000308700;ENST00000404699	D;D	0.90504	-2.68;-2.68	4.13	-3.93	0.04143	.	.	.	.	.	T	0.78597	0.4308	N	0.19112	0.55	0.09310	N	1	B	0.23185	0.081	B	0.17098	0.017	T	0.65483	-0.6157	9	0.72032	D	0.01	.	2.7641	0.05315	0.0978:0.3036:0.3604:0.2381	.	2	Q2M1V0	ISX_HUMAN	F	2	ENSP00000311492:C2F;ENSP00000386037:C2F	ENSP00000311492:C2F	C	+	2	0	ISX	33793085	0.000000	0.05858	0.000000	0.03702	0.017000	0.09413	0.601000	0.24119	-0.361000	0.08125	0.655000	0.94253	TGT		PASS	0.617	ISX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320662.1	NM_001008494		21	66	21	66	---	---	---	---
MYH9	4627	broad.mit.edu	37	22	36737470	36737470	+	Missense_Mutation	SNP	C	C	G			TCGA-22-4595-01A-01D-1267-08	TCGA-22-4595-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7fcf5123-2d1b-4666-9d39-a1aaf63cf954	850e8a4d-e0f6-4bd6-80f5-1c20e2b0e4f9	g.chr22:36737470C>G	ENST00000216181.5	-	3	665	c.435G>C	c.(433-435)gaG>gaC	p.E145D	MYH9_ENST00000401701.1_Missense_Mutation_p.E145D	NM_002473.4	NP_002464.1	P35579	MYH9_HUMAN	myosin, heavy chain 9, non-muscle	145	Myosin motor.				actin cytoskeleton reorganization (GO:0031532)|actin filament-based movement (GO:0030048)|actomyosin structure organization (GO:0031032)|angiogenesis (GO:0001525)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|blood vessel endothelial cell migration (GO:0043534)|cytokinesis (GO:0000910)|establishment of meiotic spindle localization (GO:0051295)|establishment of T cell polarity (GO:0001768)|in utero embryonic development (GO:0001701)|integrin-mediated signaling pathway (GO:0007229)|leukocyte migration (GO:0050900)|meiotic spindle organization (GO:0000212)|membrane protein ectodomain proteolysis (GO:0006509)|monocyte differentiation (GO:0030224)|myoblast fusion (GO:0007520)|platelet aggregation (GO:0070527)|platelet formation (GO:0030220)|protein transport (GO:0015031)|regulation of cell shape (GO:0008360)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|uropod organization (GO:0032796)	actin cytoskeleton (GO:0015629)|actomyosin (GO:0042641)|actomyosin contractile ring (GO:0005826)|cell leading edge (GO:0031252)|cell-cell adherens junction (GO:0005913)|cleavage furrow (GO:0032154)|cortical cytoskeleton (GO:0030863)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|immunological synapse (GO:0001772)|membrane (GO:0016020)|myosin II complex (GO:0016460)|myosin II filament (GO:0097513)|neuromuscular junction (GO:0031594)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|ruffle (GO:0001726)|spindle (GO:0005819)|stress fiber (GO:0001725)|uropod (GO:0001931)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)|motor activity (GO:0003774)|poly(A) RNA binding (GO:0044822)|protein anchor (GO:0043495)|protein homodimerization activity (GO:0042803)	p.E145D(1)		NS(1)|breast(8)|central_nervous_system(3)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(16)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(3)	86						GAGGGGGCATCTCGTGCCTCT	0.517			T	ALK	ALCL		"""Deafness, autosomal dominant 17, Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly, Sebastian syndrome"""		Hereditary Macrothrombocytopenia, MYH9-associated																													uc003apg.2				Dom	yes		22	22q13.1	4627	T	"""myosin, heavy polypeptide 9, non-muscle"""	yes	Deafness|autosomal dominant 17|Epstein syndrome|Fechtner syndrome|May-Hegglin anomaly|Sebastian syndrome	L	ALK		ALCL		1	Substitution - Missense(1)		lung(1)	breast(3)|ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|lung(1)|skin(1)|kidney(1)|pancreas(1)	11						c.(433-435)GAG>GAC		myosin, heavy polypeptide 9, non-muscle							200.0	155.0	170.0					22																	36737470		2203	4300	6503	SO:0001583	missense	4627	Hereditary_Macrothrombocytopenia_MYH9-associated	Familial Cancer Database	MYHIIA syndrome, incl. Fechtner Syndrome, FTNS, and May-Hegglin Anomaly, MHA	actin cytoskeleton reorganization|actin filament-based movement|angiogenesis|axon guidance|blood vessel endothelial cell migration|cytokinesis|integrin-mediated signaling pathway|leukocyte migration|membrane protein ectodomain proteolysis|monocyte differentiation|platelet formation|protein transport|regulation of cell shape	actomyosin contractile ring|cleavage furrow|cytosol|myosin complex|nucleus|ruffle|stress fiber|uropod	actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity|protein anchor|protein homodimerization activity	g.chr22:36737470C>G		CCDS13927.1	22q13.1	2014-09-17	2006-09-29		ENSG00000100345	ENSG00000100345		"""Myosins / Myosin superfamily : Class II"""	7579	protein-coding gene	gene with protein product	"""nonmuscle myosin heavy chain II-A"""	160775	"""myosin, heavy polypeptide 9, non-muscle"""	DFNA17		1860190, 11023810	Standard	NM_002473		Approved	NMMHCA, NMHC-II-A, MHA, FTNS, EPSTS	uc003apg.3	P35579	OTTHUMG00000030429	ENST00000216181.5:c.435G>C	22.37:g.36737470C>G	ENSP00000216181:p.Glu145Asp					MYH9_uc003aph.1_Missense_Mutation_p.E9D|MYH9_uc003api.1_Missense_Mutation_p.E145D	p.E145D	NM_002473	NP_002464	P35579	MYH9_HUMAN			3	666	-			145			Myosin head-like.		A8K6E4|O60805|Q60FE2|Q86T83	Missense_Mutation	SNP	ENST00000216181.5	37	c.435G>C	CCDS13927.1	.	.	.	.	.	.	.	.	.	.	C	18.95	3.731294	0.69189	.	.	ENSG00000100345	ENST00000337818;ENST00000216181;ENST00000401701	D;D	0.90955	-2.76;-2.76	5.04	4.02	0.46733	Myosin head, motor domain (2);	0.000000	0.85682	D	0.000000	D	0.92034	0.7476	M	0.69523	2.12	0.49582	D	0.999804	P;B	0.48834	0.916;0.025	P;B	0.54026	0.74;0.013	D	0.91498	0.5217	10	0.59425	D	0.04	.	9.2071	0.37296	0.0:0.7726:0.0:0.2274	.	145;145	Q5BKV1;P35579	.;MYH9_HUMAN	D	9;145;145	ENSP00000216181:E145D;ENSP00000384631:E145D	ENSP00000216181:E145D	E	-	3	2	MYH9	35067416	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	2.655000	0.46707	1.258000	0.44101	0.561000	0.74099	GAG		PASS	0.517	MYH9-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000259110.3	NM_002473		79	210	79	210	---	---	---	---
TMPRSS6	164656	broad.mit.edu	37	22	37482458	37482458	+	Splice_Site	SNP	C	C	T	rs201148397	byFrequency	TCGA-22-4595-01A-01D-1267-08	TCGA-22-4595-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7fcf5123-2d1b-4666-9d39-a1aaf63cf954	850e8a4d-e0f6-4bd6-80f5-1c20e2b0e4f9	g.chr22:37482458C>T	ENST00000346753.3	-	8	981	c.865G>A	c.(865-867)Gtg>Atg	p.V289M	TMPRSS6_ENST00000381792.2_Splice_Site_p.V280M|TMPRSS6_ENST00000442782.2_Splice_Site_p.V289M|TMPRSS6_ENST00000406856.1_Splice_Site_p.V280M|TMPRSS6_ENST00000406725.1_Splice_Site_p.V280M	NM_153609.2	NP_705837.1	Q8IU80	TMPS6_HUMAN	transmembrane protease, serine 6	289	CUB 1. {ECO:0000255|PROSITE- ProRule:PRU00059}.				angiogenesis (GO:0001525)|extracellular matrix organization (GO:0030198)|fibrinolysis (GO:0042730)|intracellular signal transduction (GO:0035556)|iron ion homeostasis (GO:0055072)|proteolysis (GO:0006508)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	serine-type endopeptidase activity (GO:0004252)	p.V289M(1)		breast(5)|central_nervous_system(4)|endometrium(4)|kidney(4)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(2)|stomach(3)	40						CAGCCGTACACCCTGGCAGAA	0.692																																						uc003aqs.1																			1	Substitution - Missense(1)		lung(1)	breast(4)|ovary(1)|skin(1)	6						c.(865-867)GTG>ATG		transmembrane protease, serine 6							11.0	11.0	11.0					22																	37482458		2177	4265	6442	SO:0001630	splice_region_variant	164656				angiogenesis|extracellular matrix organization|fibrinolysis|intracellular signal transduction|proteolysis	integral to membrane|intracellular|plasma membrane	serine-type endopeptidase activity	g.chr22:37482458C>T	AY055383	CCDS13941.1, CCDS74856.1, CCDS74857.1	22q13.1	2010-04-13			ENSG00000187045	ENSG00000187045		"""Serine peptidases / Transmembrane"""	16517	protein-coding gene	gene with protein product		609862					Standard	NM_001289000		Approved	FLJ30744	uc003aqs.1	Q8IU80	OTTHUMG00000150541	ENST00000346753.3:c.864-1G>A	22.37:g.37482458C>T						TMPRSS6_uc003aqt.1_Missense_Mutation_p.V280M|TMPRSS6_uc003aqu.2_Missense_Mutation_p.V280M	p.V289M	NM_153609	NP_705837	Q8IU80	TMPS6_HUMAN			8	979	-			289			CUB 1.|Extracellular (Potential).		B0QYB4|B0QYB7|B0QYB8|Q5TI06|Q6ICC2|Q6UXD8|Q8IUE2|Q8IXV8	Missense_Mutation	SNP	ENST00000346753.3	37	c.865G>A	CCDS13941.1	.	.	.	.	.	.	.	.	.	.	C	11.23	1.578883	0.28180	.	.	ENSG00000187045	ENST00000381792;ENST00000346753;ENST00000406725;ENST00000406856;ENST00000442782	T;T;T;T;T	0.59906	0.23;0.23;0.23;0.23;0.23	4.55	3.49	0.39957	CUB (1);	0.275088	0.29987	N	0.010693	T	0.48554	0.1506	L	0.27053	0.805	0.80722	D	1	D;P;P	0.59767	0.986;0.919;0.868	P;P;B	0.51918	0.684;0.507;0.31	T	0.46843	-0.9162	10	0.48119	T	0.1	.	5.9111	0.19029	0.0:0.4755:0.3987:0.1258	.	289;280;289	Q8IU80-2;Q8IU80-5;Q8IU80	.;.;TMPS6_HUMAN	M	280;289;280;280;289	ENSP00000371211:V280M;ENSP00000334962:V289M;ENSP00000385453:V280M;ENSP00000384964:V280M;ENSP00000397691:V289M	ENSP00000334962:V289M	V	-	1	0	TMPRSS6	35812404	1.000000	0.71417	0.999000	0.59377	0.358000	0.29455	1.579000	0.36536	2.071000	0.62044	0.655000	0.94253	GTG		PASS	0.692	TMPRSS6-003	NOVEL	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000318822.1	NM_153609	Missense_Mutation	3	3	3	3	---	---	---	---
TRIOBP	11078	broad.mit.edu	37	22	38121544	38121544	+	Missense_Mutation	SNP	C	C	A			TCGA-22-4595-01A-01D-1267-08	TCGA-22-4595-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7fcf5123-2d1b-4666-9d39-a1aaf63cf954	850e8a4d-e0f6-4bd6-80f5-1c20e2b0e4f9	g.chr22:38121544C>A	ENST00000406386.3	+	7	3236	c.2981C>A	c.(2980-2982)cCt>cAt	p.P994H		NM_001039141.2	NP_001034230.1	Q9H2D6	TARA_HUMAN	TRIO and F-actin binding protein	994					actin modification (GO:0030047)|barbed-end actin filament capping (GO:0051016)|mitotic nuclear division (GO:0007067)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	actin filament binding (GO:0051015)|GTP-Rho binding (GO:0017049)|myosin II binding (GO:0045159)|ubiquitin protein ligase binding (GO:0031625)	p.P994H(1)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12	Melanoma(58;0.0574)					ACTTCCTCACCTGTGTACCCC	0.647																																						uc003atr.2																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1						c.(2980-2982)CCT>CAT		TRIO and F-actin binding protein isoform 6							109.0	126.0	121.0					22																	38121544		2056	4188	6244	SO:0001583	missense	11078				actin modification|barbed-end actin filament capping	actin cytoskeleton|cytoplasm|nucleus	actin binding|GTP-Rho binding|myosin II binding|protein binding|ubiquitin protein ligase binding	g.chr22:38121544C>A	AB051449	CCDS33644.1, CCDS43015.1, CCDS43016.1	22q13.1	2014-06-03			ENSG00000100106	ENSG00000100106		"""Pleckstrin homology (PH) domain containing"""	17009	protein-coding gene	gene with protein product		609761		DFNB28		11148140, 16385457, 16385458	Standard	NM_001039141		Approved	HRIHFB2122, KIAA1662, Tara, TAP68	uc003atr.3	Q9H2D6	OTTHUMG00000150657	ENST00000406386.3:c.2981C>A	22.37:g.38121544C>A	ENSP00000384312:p.Pro994His					TRIOBP_uc003atu.2_Missense_Mutation_p.P822H|TRIOBP_uc003atq.1_Missense_Mutation_p.P994H|TRIOBP_uc003ats.1_Missense_Mutation_p.P822H	p.P994H	NM_001039141	NP_001034230	Q9H2D6	TARA_HUMAN			7	3252	+	Melanoma(58;0.0574)		994					B1AHD4|B1AHD7|F2Z2W0|F8W6V6|O94797|Q2PZW8|Q2Q3Z9|Q2Q400|Q5R3M6|Q96DW1|Q9BT77|Q9BTL7|Q9BY98|Q9Y3L4	Missense_Mutation	SNP	ENST00000406386.3	37	c.2981C>A	CCDS43015.1	.	.	.	.	.	.	.	.	.	.	C	10.06	1.246568	0.22796	.	.	ENSG00000100106	ENST00000406386;ENST00000417174	T	0.21734	1.99	5.24	2.05	0.26809	.	.	.	.	.	T	0.20251	0.0487	L	0.29908	0.895	0.09310	N	0.999999	D	0.58620	0.983	P	0.50231	0.635	T	0.08186	-1.0734	9	0.56958	D	0.05	.	6.9889	0.24743	0.0:0.7316:0.0:0.2684	.	994	Q9H2D6	TARA_HUMAN	H	994	ENSP00000384312:P994H	ENSP00000384312:P994H	P	+	2	0	TRIOBP	36451490	0.010000	0.17322	0.008000	0.14137	0.012000	0.07955	1.187000	0.32090	1.231000	0.43661	0.558000	0.71614	CCT		PASS	0.647	TRIOBP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000319439.2			5	531	5	531	---	---	---	---
EP300	2033	broad.mit.edu	37	22	41574090	41574090	+	Missense_Mutation	SNP	C	C	A			TCGA-22-4595-01A-01D-1267-08	TCGA-22-4595-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7fcf5123-2d1b-4666-9d39-a1aaf63cf954	850e8a4d-e0f6-4bd6-80f5-1c20e2b0e4f9	g.chr22:41574090C>A	ENST00000263253.7	+	31	7594	c.6375C>A	c.(6373-6375)caC>caA	p.H2125Q	RP1-85F18.6_ENST00000415054.1_RNA|RP1-85F18.5_ENST00000420537.1_RNA	NM_001429.3	NP_001420.2	Q09472	EP300_HUMAN	E1A binding protein p300	2125	Interaction with HTLV-1 Tax.|Interaction with NCOA2.				apoptotic process (GO:0006915)|cellular response to hypoxia (GO:0071456)|chromatin organization (GO:0006325)|circadian rhythm (GO:0007623)|G2/M transition of mitotic cell cycle (GO:0000086)|heart development (GO:0007507)|histone H2B acetylation (GO:0043969)|histone H4 acetylation (GO:0043967)|innate immune response (GO:0045087)|internal peptidyl-lysine acetylation (GO:0018393)|internal protein amino acid acetylation (GO:0006475)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|lung development (GO:0030324)|mitotic cell cycle (GO:0000278)|N-terminal peptidyl-lysine acetylation (GO:0018076)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of protein binding (GO:0032092)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|regulation of androgen receptor signaling pathway (GO:0060765)|regulation of cell cycle (GO:0051726)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)|regulation of tubulin deacetylation (GO:0090043)|response to estrogen (GO:0043627)|response to hypoxia (GO:0001666)|skeletal muscle tissue development (GO:0007519)|somitogenesis (GO:0001756)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|histone acetyltransferase complex (GO:0000123)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	acetyltransferase activity (GO:0016407)|activating transcription factor binding (GO:0033613)|androgen receptor binding (GO:0050681)|beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|lysine N-acetyltransferase activity, acting on acetyl phosphate as donor (GO:0004468)|nuclear hormone receptor binding (GO:0035257)|pre-mRNA intronic binding (GO:0097157)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|transferase activity, transferring acyl groups (GO:0016746)|zinc ion binding (GO:0008270)	p.H2125Q(1)		NS(2)|breast(11)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(31)|kidney(5)|large_intestine(31)|liver(2)|lung(33)|ovary(2)|pancreas(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(16)	171						AGGGGGTCCACTCCAATCCAG	0.627			"""T,  N, F, Mis, O"""	"""MLL, RUNXBP2"""	"""colorectal, breast, pancreatic, AML, ALL, DLBCL"""				Rubinstein-Taybi syndrome																													uc003azl.3				Rec	yes		22	22q13	2033	T| N|F|Mis|O	300 kd E1A-Binding protein gene			"""L, E"""	MLL|RUNXBP2		colorectal|breast|pancreatic|AML|ALL|DLBCL		1	Substitution - Missense(1)		lung(1)	haematopoietic_and_lymphoid_tissue(22)|large_intestine(13)|breast(9)|central_nervous_system(5)|upper_aerodigestive_tract(4)|pancreas(4)|lung(3)|ovary(2)|stomach(1)|skin(1)	64						c.(6373-6375)CAC>CAA		E1A binding protein p300							54.0	48.0	50.0					22																	41574090		2203	4300	6503	SO:0001583	missense	2033	Rubinstein-Taybi_syndrome	Familial Cancer Database	Broad Thumb-Hallux syndrome	apoptosis|cell cycle|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|histone H4 acetylation|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of androgen receptor signaling pathway|response to estrogen stimulus|response to hypoxia	centrosome|histone acetyltransferase complex	androgen receptor binding|beta-catenin binding|DNA binding|histone acetyltransferase activity|RNA polymerase II activating transcription factor binding|transcription coactivator activity|zinc ion binding	g.chr22:41574090C>A	U01877	CCDS14010.1	22q13.2	2011-07-01			ENSG00000100393	ENSG00000100393		"""Chromatin-modifying enzymes / K-acetyltransferases"""	3373	protein-coding gene	gene with protein product	"""histone acetyltransferase p300"""	602700				7523245	Standard	NM_001429		Approved	p300, KAT3B	uc003azl.4	Q09472	OTTHUMG00000150937	ENST00000263253.7:c.6375C>A	22.37:g.41574090C>A	ENSP00000263253:p.His2125Gln						p.H2125Q	NM_001429	NP_001420	Q09472	EP300_HUMAN			31	6770	+			2125			Interaction with HTLV-1 Tax.|Interaction with NCOA2.		B1AKC2	Missense_Mutation	SNP	ENST00000263253.7	37	c.6375C>A	CCDS14010.1	.	.	.	.	.	.	.	.	.	.	C	10.88	1.475205	0.26511	.	.	ENSG00000100393	ENST00000263253	D	0.83419	-1.72	4.93	4.93	0.64822	.	0.000000	0.51477	D	0.000092	T	0.74801	0.3764	L	0.47716	1.5	0.34487	D	0.704547	B	0.19331	0.035	B	0.14023	0.01	T	0.72447	-0.4291	10	0.11485	T	0.65	-11.2227	11.6228	0.51128	0.0:0.9177:0.0:0.0823	.	2125	Q09472	EP300_HUMAN	Q	2125	ENSP00000263253:H2125Q	ENSP00000263253:H2125Q	H	+	3	2	EP300	39904036	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	1.308000	0.33528	2.283000	0.76528	0.555000	0.69702	CAC		PASS	0.627	EP300-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320600.1	NM_001429		22	88	22	88	---	---	---	---
PACSIN2	11252	broad.mit.edu	37	22	43308058	43308058	+	Missense_Mutation	SNP	C	C	T			TCGA-22-4595-01A-01D-1267-08	TCGA-22-4595-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7fcf5123-2d1b-4666-9d39-a1aaf63cf954	850e8a4d-e0f6-4bd6-80f5-1c20e2b0e4f9	g.chr22:43308058C>T	ENST00000263246.3	-	2	230	c.29G>A	c.(28-30)gGa>gAa	p.G10E	PACSIN2_ENST00000402229.1_Missense_Mutation_p.G10E|PACSIN2_ENST00000407585.1_Missense_Mutation_p.G10E|PACSIN2_ENST00000337959.4_Missense_Mutation_p.G10E|PACSIN2_ENST00000403744.3_Missense_Mutation_p.G10E	NM_001184970.1	NP_001171899.1	Q9UNF0	PACN2_HUMAN	protein kinase C and casein kinase substrate in neurons 2	10	F-BAR domain.				actin cytoskeleton organization (GO:0030036)|caveola assembly (GO:0070836)|caveolin-mediated endocytosis (GO:0072584)|cell projection morphogenesis (GO:0048858)|membrane tubulation (GO:0097320)|negative regulation of endocytosis (GO:0045806)|protein localization to endosome (GO:0036010)	caveola (GO:0005901)|cell projection (GO:0042995)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|focal adhesion (GO:0005925)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|recycling endosome membrane (GO:0055038)	identical protein binding (GO:0042802)|phosphatidic acid binding (GO:0070300)|transporter activity (GO:0005215)	p.G10E(1)		NS(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(3)|prostate(2)|upper_aerodigestive_tract(1)	19		Glioma(61;0.222)				CACTTCTACTCCAACGGAATC	0.473																																						uc010gzg.2																			1	Substitution - Missense(1)		lung(1)		0						c.(28-30)GGA>GAA		protein kinase C and casein kinase substrate in							80.0	79.0	79.0					22																	43308058		1898	4108	6006	SO:0001583	missense	11252				actin cytoskeleton organization|endocytosis	cytoplasmic membrane-bounded vesicle	transporter activity	g.chr22:43308058C>T	AF128536	CCDS43023.1, CCDS54536.1	22q13.2-q13.33	2009-05-08			ENSG00000100266	ENSG00000100266			8571	protein-coding gene	gene with protein product	"""syndapin II"""	604960				10431838, 11082044	Standard	NM_007229		Approved	SDPII	uc003bdg.4	Q9UNF0	OTTHUMG00000150701	ENST00000263246.3:c.29G>A	22.37:g.43308058C>T	ENSP00000263246:p.Gly10Glu					PACSIN2_uc003bdg.3_Missense_Mutation_p.G10E|PACSIN2_uc003bde.3_Missense_Mutation_p.G10E|PACSIN2_uc003bdf.3_Missense_Mutation_p.G10E	p.G10E	NM_007229	NP_009160	Q9UNF0	PACN2_HUMAN			2	251	-		Glioma(61;0.222)	10					O95921|Q96HV9|Q9H0D3|Q9NPN1|Q9Y4V2	Missense_Mutation	SNP	ENST00000263246.3	37	c.29G>A	CCDS43023.1	.	.	.	.	.	.	.	.	.	.	C	18.44	3.624168	0.66901	.	.	ENSG00000100266	ENST00000263246;ENST00000337959;ENST00000407585;ENST00000403744;ENST00000402229;ENST00000453643;ENST00000418133;ENST00000422336;ENST00000453079	T;T;T;T;T;T;T;T	0.43688	1.58;1.58;1.58;1.58;1.58;0.94;0.95;0.95	5.65	5.65	0.86999	.	0.382555	0.26112	N	0.026267	T	0.34193	0.0889	L	0.46157	1.445	0.49915	D	0.999831	P;P	0.41041	0.501;0.736	B;B	0.38985	0.157;0.287	T	0.09885	-1.0654	10	0.06236	T	0.91	-2.2087	15.093	0.72211	0.0:1.0:0.0:0.0	.	10;10	Q6FIA3;Q9UNF0	.;PACN2_HUMAN	E	10	ENSP00000263246:G10E;ENSP00000338379:G10E;ENSP00000385952:G10E;ENSP00000385372:G10E;ENSP00000385040:G10E;ENSP00000398573:G10E;ENSP00000396816:G10E;ENSP00000403435:G10E	ENSP00000263246:G10E	G	-	2	0	PACSIN2	41638002	1.000000	0.71417	0.991000	0.47740	0.977000	0.68977	3.980000	0.56895	2.941000	0.99782	0.655000	0.94253	GGA		PASS	0.473	PACSIN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319665.1	NM_007229		28	130	28	130	---	---	---	---
EFCAB6	64800	broad.mit.edu	37	22	44004396	44004396	+	Missense_Mutation	SNP	G	G	A	rs369786858		TCGA-22-4595-01A-01D-1267-08	TCGA-22-4595-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7fcf5123-2d1b-4666-9d39-a1aaf63cf954	850e8a4d-e0f6-4bd6-80f5-1c20e2b0e4f9	g.chr22:44004396G>A	ENST00000262726.7	-	22	2900	c.2647C>T	c.(2647-2649)Ctc>Ttc	p.L883F	EFCAB6_ENST00000396231.2_Missense_Mutation_p.L731F	NM_022785.3	NP_073622.2	Q5THR3	EFCB6_HUMAN	EF-hand calcium binding domain 6	883	EF-hand 10. {ECO:0000255|PROSITE- ProRule:PRU00448}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	calcium ion binding (GO:0005509)	p.L883F(1)		breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(16)|lung(25)|ovary(4)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	68		Ovarian(80;0.0247)|all_neural(38;0.025)				CTTGGTGTGAGGGGAATATCA	0.448																																						uc003bdy.1																			1	Substitution - Missense(1)		lung(1)	ovary(3)|skin(2)|upper_aerodigestive_tract(1)|pancreas(1)	7						c.(2647-2649)CTC>TTC		CAP-binding protein complex interacting protein		G	PHE/LEU,PHE/LEU	0,4406		0,0,2203	159.0	119.0	133.0		2647,2191	3.6	1.0	22		133	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	EFCAB6	NM_022785.3,NM_198856.2	22,22	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging,probably-damaging	883/1502,731/1350	44004396	1,13005	2203	4300	6503	SO:0001583	missense	64800				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	calcium ion binding	g.chr22:44004396G>A	Z82201	CCDS14049.1, CCDS14050.1	22q13.2	2013-01-10			ENSG00000186976	ENSG00000186976		"""EF-hand domain containing"""	24204	protein-coding gene	gene with protein product						11258795, 12612053	Standard	NM_022785		Approved	FLJ23588, DJBP, HSCBCIP1, KIAA1672, dJ185D5.1	uc003bdy.2	Q5THR3	OTTHUMG00000150522	ENST00000262726.7:c.2647C>T	22.37:g.44004396G>A	ENSP00000262726:p.Leu883Phe					EFCAB6_uc003bdz.1_Missense_Mutation_p.L731F|EFCAB6_uc010gzi.1_Missense_Mutation_p.L731F|EFCAB6_uc010gzj.1_Intron	p.L883F	NM_022785	NP_073622	Q5THR3	EFCB6_HUMAN			22	2862	-		Ovarian(80;0.0247)|all_neural(38;0.025)	883			EF-hand 10.		A8K8P6|A8K8Y3|B0QYI4|B0QYI6|Q5U5T6|Q9BY88|Q9H5C4|Q9NSF5	Missense_Mutation	SNP	ENST00000262726.7	37	c.2647C>T	CCDS14049.1	.	.	.	.	.	.	.	.	.	.	G	18.08	3.544756	0.65198	0.0	1.16E-4	ENSG00000186976	ENST00000396231;ENST00000262726	T;T	0.11063	2.81;2.81	4.73	3.64	0.41730	EF-hand-like domain (1);	0.076859	0.47852	D	0.000208	T	0.21761	0.0524	L	0.43152	1.355	0.80722	D	1	D	0.71674	0.998	D	0.66602	0.945	T	0.00281	-1.1851	10	0.59425	D	0.04	-32.543	12.4197	0.55514	0.0:0.0:0.7803:0.2197	.	883	Q5THR3	EFCB6_HUMAN	F	731;883	ENSP00000379533:L731F;ENSP00000262726:L883F	ENSP00000262726:L883F	L	-	1	0	EFCAB6	42335729	0.942000	0.31987	0.993000	0.49108	0.954000	0.61252	1.184000	0.32053	2.607000	0.88179	0.655000	0.94253	CTC		PASS	0.448	EFCAB6-010	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353176.1	NM_022785		26	90	26	90	---	---	---	---
TBC1D22A	25771	broad.mit.edu	37	22	47189457	47189457	+	Missense_Mutation	SNP	C	C	G			TCGA-22-4595-01A-01D-1267-08	TCGA-22-4595-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7fcf5123-2d1b-4666-9d39-a1aaf63cf954	850e8a4d-e0f6-4bd6-80f5-1c20e2b0e4f9	g.chr22:47189457C>G	ENST00000337137.4	+	3	345	c.179C>G	c.(178-180)aCc>aGc	p.T60S	TBC1D22A_ENST00000472791.1_3'UTR|TBC1D22A_ENST00000407381.3_Missense_Mutation_p.T60S|TBC1D22A_ENST00000406733.1_Missense_Mutation_p.T13S|TBC1D22A_ENST00000380995.1_Missense_Mutation_p.T13S|TBC1D22A_ENST00000355704.3_Missense_Mutation_p.T41S	NM_001284304.1|NM_001284305.1|NM_014346.2	NP_001271233.1|NP_001271234.1|NP_055161.1	Q8WUA7	TB22A_HUMAN	TBC1 domain family, member 22A	60							protein homodimerization activity (GO:0042803)|Rab GTPase activator activity (GO:0005097)	p.T60S(1)		breast(1)|endometrium(3)|large_intestine(10)|lung(5)|ovary(2)|prostate(1)	22		all_cancers(38;4.44e-05)|all_epithelial(38;0.000507)|Breast(42;0.0488)|all_lung(38;0.0682)|Ovarian(80;0.0731)|all_neural(38;0.0966)|Glioma(61;0.222)|Lung SC(80;0.236)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0347)|BRCA - Breast invasive adenocarcinoma(115;0.231)		AGGGTCAGCACCTTCCAGGAG	0.592																																						uc003bib.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(178-180)ACC>AGC		TBC1 domain family, member 22A							62.0	60.0	61.0					22																	47189457		2203	4300	6503	SO:0001583	missense	25771					intracellular	protein homodimerization activity|Rab GTPase activator activity	g.chr22:47189457C>G	AK125705	CCDS14078.1, CCDS63511.1, CCDS63512.1, CCDS74877.1	22q13	2008-01-22	2005-01-05	2005-01-05	ENSG00000054611	ENSG00000054611			1309	protein-coding gene	gene with protein product			"""chromosome 22 open reading frame 4"""	C22orf4			Standard	XM_005261496		Approved		uc003bib.3	Q8WUA7	OTTHUMG00000150332	ENST00000337137.4:c.179C>G	22.37:g.47189457C>G	ENSP00000336724:p.Thr60Ser					TBC1D22A_uc010haf.2_Missense_Mutation_p.T30S|TBC1D22A_uc003bic.2_Missense_Mutation_p.T60S|TBC1D22A_uc003bie.2_Missense_Mutation_p.T41S|TBC1D22A_uc003bid.2_RNA|TBC1D22A_uc010hag.2_RNA|TBC1D22A_uc003bif.2_Missense_Mutation_p.T13S	p.T60S	NM_014346	NP_055161	Q8WUA7	TB22A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (28;0.0347)|BRCA - Breast invasive adenocarcinoma(115;0.231)	3	314	+		all_cancers(38;4.44e-05)|all_epithelial(38;0.000507)|Breast(42;0.0488)|all_lung(38;0.0682)|Ovarian(80;0.0731)|all_neural(38;0.0966)|Glioma(61;0.222)|Lung SC(80;0.236)	60					B0QYI2|B0QYI3|B9A6M3|Q5TE47|Q6ZUH2|Q92680|Q9BVD6|Q9UGG0|Q9UGT2|Q9UGU6|Q9UH25|Q9Y4W5	Missense_Mutation	SNP	ENST00000337137.4	37	c.179C>G	CCDS14078.1	.	.	.	.	.	.	.	.	.	.	C	7.632	0.679152	0.14907	.	.	ENSG00000054611	ENST00000337137;ENST00000380995;ENST00000407381;ENST00000355704;ENST00000406733	T;T;T;T;T	0.40756	2.04;1.02;2.13;1.96;1.99	4.7	2.51	0.30379	.	0.050254	0.85682	N	0.000000	T	0.28863	0.0716	L	0.35854	1.095	0.45554	D	0.998501	B;B;B;B	0.20550	0.016;0.015;0.046;0.016	B;B;B;B	0.22880	0.028;0.042;0.039;0.028	T	0.14448	-1.0472	10	0.02654	T	1	-22.9087	13.8033	0.63214	0.0:0.7074:0.2926:0.0	.	60;41;60;60	B9A6M3;Q8WUA7-2;B0QYI1;Q8WUA7	.;.;.;TB22A_HUMAN	S	60;13;60;41;13	ENSP00000336724:T60S;ENSP00000370383:T13S;ENSP00000384036:T60S;ENSP00000347932:T41S;ENSP00000385634:T13S	ENSP00000336724:T60S	T	+	2	0	TBC1D22A	45568121	1.000000	0.71417	1.000000	0.80357	0.956000	0.61745	5.298000	0.65710	0.656000	0.30886	0.609000	0.83330	ACC		PASS	0.592	TBC1D22A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317600.3	NM_014346		33	126	33	126	---	---	---	---
LMF2	91289	broad.mit.edu	37	22	50942847	50942847	+	Missense_Mutation	SNP	T	T	C			TCGA-22-4595-01A-01D-1267-08	TCGA-22-4595-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7fcf5123-2d1b-4666-9d39-a1aaf63cf954	850e8a4d-e0f6-4bd6-80f5-1c20e2b0e4f9	g.chr22:50942847T>C	ENST00000474879.2	-	12	1655	c.1640A>G	c.(1639-1641)tAt>tGt	p.Y547C	LMF2_ENST00000216080.5_Missense_Mutation_p.Y522C|LMF2_ENST00000380796.3_Missense_Mutation_p.Y434C|LMF2_ENST00000505981.1_5'Flank	NM_033200.2	NP_149977.2	Q9BU23	LMF2_HUMAN	lipase maturation factor 2	547						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)		p.Y522C(1)		breast(1)|cervix(1)|kidney(1)|lung(4)|prostate(1)|skin(2)	10		all_cancers(38;1.31e-09)|all_epithelial(38;1.81e-08)|all_lung(38;0.000817)|Breast(42;0.00387)|Lung NSC(38;0.0124)|Ovarian(80;0.104)|Lung SC(80;0.162)|Hepatocellular(38;0.178)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		GTGGAAGGGATACCTGGCCAC	0.682																																						uc003blp.2																			1	Substitution - Missense(1)		lung(1)	breast(1)	1						c.(1639-1641)TAT>TGT		lipase maturation factor 2							74.0	65.0	68.0					22																	50942847		2201	4300	6501	SO:0001583	missense	91289					endoplasmic reticulum membrane|integral to membrane		g.chr22:50942847T>C	BC002942	CCDS14093.1, CCDS14093.2	22q13.33	2008-02-04	2007-11-29	2007-11-29	ENSG00000100258	ENSG00000100258			25096	protein-coding gene	gene with protein product			"""transmembrane protein 153"", ""transmembrane protein 112B"""	TMEM153, TMEM112B		12477932	Standard	NM_033200		Approved		uc003blp.2	Q9BU23	OTTHUMG00000150206	ENST00000474879.2:c.1640A>G	22.37:g.50942847T>C	ENSP00000424381:p.Tyr547Cys					LMF2_uc010hba.2_Missense_Mutation_p.Y369C|LMF2_uc003blo.2_Missense_Mutation_p.Y522C	p.Y547C	NM_033200	NP_149977	Q9BU23	LMF2_HUMAN		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)	12	1671	-		all_cancers(38;1.31e-09)|all_epithelial(38;1.81e-08)|all_lung(38;0.000817)|Breast(42;0.00387)|Lung NSC(38;0.0124)|Ovarian(80;0.104)|Lung SC(80;0.162)|Hepatocellular(38;0.178)	547					A6NEZ0|Q13392|Q6ZNR2|Q8WU74|Q96C62	Missense_Mutation	SNP	ENST00000474879.2	37	c.1640A>G	CCDS14093.2	.	.	.	.	.	.	.	.	.	.	T	17.68	3.448356	0.63178	.	.	ENSG00000100258	ENST00000380796;ENST00000474879;ENST00000216080	T;T;T	0.33865	1.39;1.86;1.86	5.93	5.93	0.95920	.	0.065130	0.64402	D	0.000006	T	0.60327	0.2260	M	0.75447	2.3	0.42954	D	0.994381	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.992	T	0.62793	-0.6779	10	0.51188	T	0.08	11.3085	14.3318	0.66561	0.0:0.0:0.0:1.0	.	547;522	Q9BU23;Q9BU23-2	LMF2_HUMAN;.	C	434;547;522	ENSP00000370173:Y434C;ENSP00000424381:Y547C;ENSP00000216080:Y522C	ENSP00000216080:Y522C	Y	-	2	0	LMF2	49289713	1.000000	0.71417	0.995000	0.50966	0.059000	0.15707	4.568000	0.60857	2.271000	0.75665	0.533000	0.62120	TAT		PASS	0.682	LMF2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316833.2	NM_033200		7	36	7	36	---	---	---	---
GYG2	8908	broad.mit.edu	37	X	2778075	2778075	+	Missense_Mutation	SNP	C	C	A			TCGA-22-4595-01A-01D-1267-08	TCGA-22-4595-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7fcf5123-2d1b-4666-9d39-a1aaf63cf954	850e8a4d-e0f6-4bd6-80f5-1c20e2b0e4f9	g.chrX:2778075C>A	ENST00000381163.3	+	8	1181	c.899C>A	c.(898-900)gCg>gAg	p.A300E	GYG2_ENST00000542787.1_Missense_Mutation_p.A300E|GYG2_ENST00000398806.3_Missense_Mutation_p.A269E|GYG2_ENST00000381161.1_3'UTR|GYG2_ENST00000338623.5_Missense_Mutation_p.A300E	NM_001079855.1|NM_001184702.1|NM_003918.2	NP_001073324.1|NP_001171631.1|NP_003909.2	O15488	GLYG2_HUMAN	glycogenin 2	300					carbohydrate metabolic process (GO:0005975)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|glycogen catabolic process (GO:0005980)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	glycogenin glucosyltransferase activity (GO:0008466)	p.A300E(1)		endometrium(1)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)	13		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)				AGCGTCCAAGCGGGGGAAGCA	0.577																																						uc004cqs.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|kidney(1)	2						c.(898-900)GCG>GAG		glycogenin 2 isoform b							25.0	24.0	24.0					X																	2778075		2203	4298	6501	SO:0001583	missense	8908				glucose metabolic process|glycogen biosynthetic process|glycogen catabolic process	cytosol|soluble fraction	glycogenin glucosyltransferase activity	g.chrX:2778075C>A	U94361	CCDS14121.1, CCDS48074.1	Xp22.3	2013-02-22			ENSG00000056998	ENSG00000056998	2.4.1.186	"""Glycosyltransferase family 8 domain containing"""	4700	protein-coding gene	gene with protein product	"""glycogenin glucosyltransferase"""	300198				9857012	Standard	NM_001079855		Approved	GN-2	uc004cqs.1	O15488	OTTHUMG00000021079	ENST00000381163.3:c.899C>A	X.37:g.2778075C>A	ENSP00000370555:p.Ala300Glu					GYG2_uc004cqt.1_Missense_Mutation_p.A269E|GYG2_uc004cqu.1_Missense_Mutation_p.A269E|GYG2_uc004cqv.1_Missense_Mutation_p.A114E|GYG2_uc004cqw.1_Missense_Mutation_p.A260E|GYG2_uc004cqx.1_Missense_Mutation_p.A269E|GYG2_uc010ndc.1_Missense_Mutation_p.A114E	p.A300E	NM_003918	NP_003909	O15488	GLYG2_HUMAN			8	1181	+		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)	300					B7WNN6|O15485|O15486|O15487|O15489|O15490	Missense_Mutation	SNP	ENST00000381163.3	37	c.899C>A	CCDS14121.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	0.021|0.021	-1.422120|-1.422120	0.01126|0.01126	.|.	.|.	ENSG00000056998|ENSG00000056998	ENST00000398806;ENST00000381163;ENST00000338623;ENST00000542787|ENST00000381157	T;T;T;T|.	0.41065|.	1.01;1.33;1.33;1.31|.	3.74|3.74	-6.24|-6.24	0.02046|0.02046	.|.	1.557980|.	0.03870|.	N|.	0.275438|.	T|T	0.14141|0.14141	0.0342|0.0342	N|N	0.14661|0.14661	0.345|0.345	0.09310|0.09310	N|N	1|1	B;B;B;B;B;B|.	0.21381|.	0.055;0.019;0.034;0.003;0.016;0.023|.	B;B;B;B;B;B|.	0.23275|.	0.042;0.01;0.045;0.002;0.017;0.012|.	T|T	0.22521|0.22521	-1.0214|-1.0214	10|5	0.22706|.	T|.	0.39|.	.|.	1.7116|1.7116	0.02893|0.02893	0.2761:0.2979:0.3047:0.1213|0.2761:0.2979:0.3047:0.1213	.|.	300;300;260;269;269;300|.	O15488-6;O15488-4;O15488-3;A8K8Y1;O15488-2;O15488|.	.;.;.;.;.;GLYG2_HUMAN|.	E|R	269;300;300;300|118	ENSP00000381786:A269E;ENSP00000370555:A300E;ENSP00000341273:A300E;ENSP00000446092:A300E|.	ENSP00000341273:A300E|.	A|S	+|+	2|3	0|2	GYG2|GYG2	2788075|2788075	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.000000|0.000000	0.00434|0.00434	-0.263000|-0.263000	0.08670|0.08670	-1.361000|-1.361000	0.02169|0.02169	-1.228000|-1.228000	0.01579|0.01579	GCG|AGC		PASS	0.577	GYG2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000055645.1	NM_003918		6	7	6	7	---	---	---	---
VCX3B	425054	broad.mit.edu	37	X	8433594	8433594	+	Splice_Site	SNP	G	G	T			TCGA-22-4595-01A-01D-1267-08	TCGA-22-4595-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7fcf5123-2d1b-4666-9d39-a1aaf63cf954	850e8a4d-e0f6-4bd6-80f5-1c20e2b0e4f9	g.chrX:8433594G>T	ENST00000381032.1	+	2	409		c.e2+1		VCX3B_ENST00000440654.2_Splice_Site|VCX3B_ENST00000444481.1_Splice_Site|VCX3B_ENST00000381029.4_Splice_Site|VCX3B_ENST00000453306.1_Splice_Site	NM_001001888.3	NP_001001888.3	Q9H321	VCX3B_HUMAN	variable charge, X-linked 3B							nucleolus (GO:0005730)|nucleus (GO:0005634)		p.?(1)		NS(1)|large_intestine(1)|lung(2)|prostate(1)|skin(3)|urinary_tract(3)	11						GAAGAAGAAGGTGAGTGACCC	0.637																																						uc010ndo.2																			1	Unknown(1)		lung(1)		0						c.e2+1		variable charge, X-linked 3B							28.0	15.0	20.0					X																	8433594		1239	2102	3341	SO:0001630	splice_region_variant	425054					nucleolus		g.chrX:8433594G>T		CCDS48077.1, CCDS48077.2	Xp22.31	2009-01-14			ENSG00000205642	ENSG00000205642			31838	protein-coding gene	gene with protein product							Standard	NM_001001888		Approved	VCX-C	uc011mht.2	Q9H321	OTTHUMG00000021106	ENST00000381032.1:c.102+1G>T	X.37:g.8433594G>T						VCX3B_uc011mht.1_Splice_Site_p.K34_splice|VCX3B_uc004csd.1_Splice_Site_p.K34_splice	p.K34_splice	NM_001001888	NP_001001888	Q9H321	VCX3B_HUMAN			2	409	+								C9JS46|Q4KN12	Splice_Site	SNP	ENST00000381032.1	37	c.102_splice	CCDS48077.2	.	.	.	.	.	.	.	.	.	.	G	2.154	-0.393781	0.04899	.	.	ENSG00000205642	ENST00000381032;ENST00000453306;ENST00000444481;ENST00000440654;ENST00000381029	.	.	.	0.384	0.384	0.16244	.	.	.	.	.	.	.	.	.	.	.	0.21105	N	0.99979	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-1	.	.	.	+	.	.	VCX3B	8393594	0.976000	0.34144	0.053000	0.19242	0.052000	0.14988	1.202000	0.32271	0.422000	0.26005	0.424000	0.28305	.		PASS	0.637	VCX3B-001	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000055691.1		Intron	4	155	4	155	---	---	---	---
BEND2	139105	broad.mit.edu	37	X	18195717	18195717	+	Silent	SNP	G	G	T	rs149324488		TCGA-22-4595-01A-01D-1267-08	TCGA-22-4595-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7fcf5123-2d1b-4666-9d39-a1aaf63cf954	850e8a4d-e0f6-4bd6-80f5-1c20e2b0e4f9	g.chrX:18195717G>T	ENST00000380033.4	-	10	1734	c.1602C>A	c.(1600-1602)ctC>ctA	p.L534L	BEND2_ENST00000380030.3_Silent_p.L443L	NM_153346.4	NP_699177.2	Q8NDZ0	BEND2_HUMAN	BEN domain containing 2	534	BEN 1. {ECO:0000255|PROSITE- ProRule:PRU00784}.							p.L534L(1)		NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(11)|liver(1)|lung(21)|ovary(3)|prostate(1)	49						TGTTCGGGTCGAGGGATTGGC	0.388																																						uc004cyj.3																			1	Substitution - coding silent(1)		lung(1)	ovary(3)|kidney(1)|central_nervous_system(1)	5						c.(1600-1602)CTC>CTA		BEN domain containing 2							259.0	243.0	248.0					X																	18195717		2203	4300	6503	SO:0001819	synonymous_variant	139105							g.chrX:18195717G>T	AK128155	CCDS14184.1, CCDS55375.1	Xp22.22	2012-11-22	2008-10-03	2008-10-03	ENSG00000177324	ENSG00000177324		"""BEN domain containing"""	28509	protein-coding gene	gene with protein product			"""chromosome X open reading frame 20"""	CXorf20		12477932	Standard	NM_153346		Approved	MGC33653	uc004cyj.4	Q8NDZ0	OTTHUMG00000021211	ENST00000380033.4:c.1602C>A	X.37:g.18195717G>T						BEND2_uc010nfb.2_Silent_p.L443L	p.L534L	NM_153346	NP_699177	Q8NDZ0	BEND2_HUMAN			10	1756	-			534			BEN 1.		E9PFY2|Q4V9S2|Q5JXE5	Silent	SNP	ENST00000380033.4	37	c.1602C>A	CCDS14184.1																																																																																				PASS	0.388	BEND2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055940.1	NM_153346		174	212	174	212	---	---	---	---
IL1RAPL1	11141	broad.mit.edu	37	X	29973457	29973457	+	Silent	SNP	T	T	C			TCGA-22-4595-01A-01D-1267-08	TCGA-22-4595-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7fcf5123-2d1b-4666-9d39-a1aaf63cf954	850e8a4d-e0f6-4bd6-80f5-1c20e2b0e4f9	g.chrX:29973457T>C	ENST00000378993.1	+	11	2284	c.1611T>C	c.(1609-1611)atT>atC	p.I537I	IL1RAPL1_ENST00000302196.4_Silent_p.I537I	NM_014271.3	NP_055086.1	Q9NZN1	IRPL1_HUMAN	interleukin 1 receptor accessory protein-like 1	537	TIR. {ECO:0000255|PROSITE- ProRule:PRU00204}.				calcium ion transmembrane transport (GO:0070588)|heterophilic cell-cell adhesion (GO:0007157)|negative regulation of exocytosis (GO:0045920)|neuron differentiation (GO:0030182)|positive regulation of dendrite morphogenesis (GO:0050775)|presynaptic membrane assembly (GO:0097105)|regulation of neuron projection development (GO:0010975)|signal transduction (GO:0007165)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	receptor binding (GO:0005102)|voltage-gated calcium channel activity (GO:0005245)	p.I537I(2)		biliary_tract(1)|breast(1)|endometrium(5)|large_intestine(9)|lung(38)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62						TGACGGTCATTAAATGGCATG	0.413																																						uc004dby.2																			2	Substitution - coding silent(2)		lung(2)	ovary(3)|lung(1)|pancreas(1)	5						c.(1609-1611)ATT>ATC		interleukin 1 receptor accessory protein-like 1							59.0	54.0	56.0					X																	29973457		2202	4300	6502	SO:0001819	synonymous_variant	11141				innate immune response|negative regulation of calcium ion transport via voltage-gated calcium channel activity|negative regulation of exocytosis|regulation of neuron projection development	cytoplasm|integral to membrane|plasma membrane	protein binding|transmembrane receptor activity	g.chrX:29973457T>C	AJ243874	CCDS14218.1	Xp22.1-p21.3	2013-01-29	2004-02-13		ENSG00000169306	ENSG00000169306		"""Interleukins and interleukin receptors"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5996	protein-coding gene	gene with protein product		300206	"""mental retardation, X-linked 34"", ""mental retardation, X-linked 21"", ""mental retardation, X-linked 10"""	IL1RAPL, MRX34, MRX21, MRX10		10471494, 10757639	Standard	NM_014271		Approved	OPHN4, TIGIRR-2, IL1R8	uc004dby.2	Q9NZN1	OTTHUMG00000021317	ENST00000378993.1:c.1611T>C	X.37:g.29973457T>C							p.I537I	NM_014271	NP_055086	Q9NZN1	IRPL1_HUMAN			11	2119	+			537			Cytoplasmic (Potential).|TIR.		A0AVG4|Q9UJ53	Silent	SNP	ENST00000378993.1	37	c.1611T>C	CCDS14218.1																																																																																				PASS	0.413	IL1RAPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056155.1	NM_014271		25	39	25	39	---	---	---	---
DDX3X	1654	broad.mit.edu	37	X	41201857	41201857	+	Missense_Mutation	SNP	G	G	A			TCGA-22-4595-01A-01D-1267-08	TCGA-22-4595-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7fcf5123-2d1b-4666-9d39-a1aaf63cf954	850e8a4d-e0f6-4bd6-80f5-1c20e2b0e4f9	g.chrX:41201857G>A	ENST00000399959.2	+	5	1249	c.394G>A	c.(394-396)Gat>Aat	p.D132N	DDX3X_ENST00000457138.2_Missense_Mutation_p.D116N|DDX3X_ENST00000478993.1_3'UTR|RN7SL15P_ENST00000582825.1_RNA|DDX3X_ENST00000441189.2_Intron|DDX3X_ENST00000542215.1_Missense_Mutation_p.D176N	NM_001193416.1|NM_001193417.1|NM_001356.3	NP_001180345.1|NP_001180346.1|NP_001347.3	O00571	DDX3X_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 3, X-linked	132	Interaction with GSK3B.|Required for TBK1 and IKBKE-dependent IFN-beta activation.				ATP catabolic process (GO:0006200)|cellular response to arsenic-containing substance (GO:0071243)|cellular response to osmotic stress (GO:0071470)|chromosome segregation (GO:0007059)|DNA duplex unwinding (GO:0032508)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|intrinsic apoptotic signaling pathway (GO:0097193)|mature ribosome assembly (GO:0042256)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)|negative regulation of protein complex assembly (GO:0031333)|negative regulation of translation (GO:0017148)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell growth (GO:0030307)|positive regulation of chemokine (C-C motif) ligand 5 production (GO:0071651)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of G1/S transition of mitotic cell cycle (GO:1900087)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of translation (GO:0045727)|positive regulation of translational initiation (GO:0045948)|response to virus (GO:0009615)|RNA secondary structure unwinding (GO:0010501)|stress granule assembly (GO:0034063)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|extracellular vesicular exosome (GO:0070062)|mitochondrial outer membrane (GO:0005741)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|ATP-dependent RNA helicase activity (GO:0004004)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|eukaryotic initiation factor 4E binding (GO:0008190)|mRNA 5'-UTR binding (GO:0048027)|poly(A) binding (GO:0008143)|poly(A) RNA binding (GO:0044822)|ribosomal small subunit binding (GO:0043024)|RNA binding (GO:0003723)|RNA stem-loop binding (GO:0035613)|transcription factor binding (GO:0008134)|translation initiation factor binding (GO:0031369)	p.D132N(1)		NS(3)|breast(8)|central_nervous_system(36)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	84						TGACAAATCAGATGAAGATGA	0.453										HNSCC(61;0.18)																												uc004dfe.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|breast(2)|central_nervous_system(1)|skin(1)	6						c.(394-396)GAT>AAT		DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 3							116.0	113.0	114.0					X																	41201857		2201	4300	6501	SO:0001583	missense	1654				interspecies interaction between organisms	cytoplasm|nuclear speck	ATP binding|ATP-dependent RNA helicase activity|DNA binding|protein binding|RNA binding	g.chrX:41201857G>A	U50553	CCDS43931.1, CCDS55404.1	Xp11.3-p11.23	2013-07-16	2013-07-16	2003-06-20	ENSG00000215301	ENSG00000215301		"""DEAD-boxes"""	2745	protein-coding gene	gene with protein product		300160	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 3"", ""DEAD (Asp-Glu-Ala-Asp) box polypeptide 3, X-linked"""	DDX3		9381176, 9730595	Standard	NM_001193416		Approved	DBX, HLP2, DDX14	uc004dfe.3	O00571	OTTHUMG00000021369	ENST00000399959.2:c.394G>A	X.37:g.41201857G>A	ENSP00000382840:p.Asp132Asn	HNSCC(61;0.18)				DDX3X_uc010nhf.1_Missense_Mutation_p.D116N|DDX3X_uc004dff.2_Missense_Mutation_p.D132N|DDX3X_uc011mkq.1_Missense_Mutation_p.D116N|DDX3X_uc011mkr.1_Missense_Mutation_p.D132N|DDX3X_uc011mks.1_Intron|DDX3X_uc004dfg.2_RNA|DDX3X_uc011mkt.1_RNA	p.D132N	NM_001356	NP_001347	O00571	DDX3X_HUMAN			5	1249	+			132					A8K538|B4E3E8|O15536	Missense_Mutation	SNP	ENST00000399959.2	37	c.394G>A	CCDS43931.1	.	.	.	.	.	.	.	.	.	.	G	17.17	3.320621	0.60634	.	.	ENSG00000215301	ENST00000399959;ENST00000457138;ENST00000542215	T;T;T	0.44881	2.1;2.09;0.91	5.75	5.75	0.90469	.	0.300594	0.40064	N	0.001192	T	0.31231	0.0790	N	0.17764	0.52	0.49915	D	0.999839	B;B;B;B;B	0.15473	0.013;0.01;0.006;0.001;0.003	B;B;B;B;B	0.14023	0.01;0.005;0.004;0.004;0.004	T	0.09487	-1.0672	10	0.16896	T	0.51	-6.2332	18.9517	0.92643	0.0:0.0:1.0:0.0	.	132;116;132;144;132	B4DLU5;B4E3E8;B5BTY4;Q59GX6;O00571	.;.;.;.;DDX3X_HUMAN	N	132;116;176	ENSP00000382840:D132N;ENSP00000392494:D116N;ENSP00000439799:D176N	ENSP00000382840:D132N	D	+	1	0	DDX3X	41086801	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.204000	0.77872	2.424000	0.82194	0.600000	0.82982	GAT		PASS	0.453	DDX3X-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056253.1	NM_024005		56	55	56	55	---	---	---	---
ITIH6	347365	broad.mit.edu	37	X	54776340	54776340	+	Silent	SNP	G	G	A			TCGA-22-4595-01A-01D-1267-08	TCGA-22-4595-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7fcf5123-2d1b-4666-9d39-a1aaf63cf954	850e8a4d-e0f6-4bd6-80f5-1c20e2b0e4f9	g.chrX:54776340G>A	ENST00000218436.6	-	13	3959	c.3930C>T	c.(3928-3930)tcC>tcT	p.S1310S		NM_198510.2	NP_940912.1	Q6UXX5	ITIH6_HUMAN	inter-alpha-trypsin inhibitor heavy chain family, member 6	1310					hyaluronan metabolic process (GO:0030212)	extracellular region (GO:0005576)	serine-type endopeptidase inhibitor activity (GO:0004867)	p.S1310S(1)									ACAGGACATAGGAGAGGTAGG	0.592																																						uc004dtj.2																			1	Substitution - coding silent(1)		lung(1)	lung(2)|skin(2)|ovary(1)|breast(1)	6						c.(3928-3930)TCC>TCT		inter-alpha (globulin) inhibitor H5-like							30.0	26.0	28.0					X																	54776340		2203	4299	6502	SO:0001819	synonymous_variant	347365				hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity	g.chrX:54776340G>A	AY358170	CCDS14361.1	Xp11.22-p11.21	2011-10-26	2011-10-26	2011-10-26	ENSG00000102313	ENSG00000102313			28907	protein-coding gene	gene with protein product			"""inter-alpha (globulin) inhibitor H5-like"""	ITIH5L		12975309	Standard	NM_198510		Approved	UNQ6369	uc004dtj.2	Q6UXX5	OTTHUMG00000021634	ENST00000218436.6:c.3930C>T	X.37:g.54776340G>A							p.S1310S	NM_198510	NP_940912	Q6UXX5	ITH5L_HUMAN			13	3960	-			1310					A6NN03	Silent	SNP	ENST00000218436.6	37	c.3930C>T	CCDS14361.1																																																																																				PASS	0.592	ITIH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056814.2	NM_198510		10	16	10	16	---	---	---	---
LAS1L	81887	broad.mit.edu	37	X	64748148	64748148	+	Silent	SNP	G	G	A			TCGA-22-4595-01A-01D-1267-08	TCGA-22-4595-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7fcf5123-2d1b-4666-9d39-a1aaf63cf954	850e8a4d-e0f6-4bd6-80f5-1c20e2b0e4f9	g.chrX:64748148G>A	ENST00000374811.3	-	7	988	c.948C>T	c.(946-948)tgC>tgT	p.C316C	LAS1L_ENST00000312391.8_Intron|LAS1L_ENST00000374807.5_Silent_p.C316C|LAS1L_ENST00000374804.5_Silent_p.C274C	NM_031206.4	NP_112483.1	Q9Y4W2	LAS1L_HUMAN	LAS1-like (S. cerevisiae)	316					rRNA processing (GO:0006364)	cytoplasm (GO:0005737)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)|MLL1 complex (GO:0071339)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)	p.C316C(1)		breast(4)|endometrium(3)|kidney(1)|large_intestine(4)|lung(13)|ovary(4)|prostate(1)|skin(2)|urinary_tract(1)	33						ACCTGTTCTCGCATGTAACGC	0.498											OREG0019826	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc004dwa.1																			1	Substitution - coding silent(1)		lung(1)	ovary(3)|large_intestine(1)	4						c.(946-948)TGC>TGT		LAS1-like							105.0	58.0	74.0					X																	64748148		2203	4299	6502	SO:0001819	synonymous_variant	81887					MLL1 complex|nucleolus	protein binding	g.chrX:64748148G>A	BC014545	CCDS14381.1, CCDS55433.1, CCDS55434.1	Xq12	2008-02-05			ENSG00000001497	ENSG00000001497			25726	protein-coding gene	gene with protein product						12477932	Standard	NM_031206		Approved	FLJ12525	uc004dwa.2	Q9Y4W2	OTTHUMG00000021720	ENST00000374811.3:c.948C>T	X.37:g.64748148G>A			OREG0019826	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1078	LAS1L_uc004dwc.1_Silent_p.C316C|LAS1L_uc004dwd.1_Silent_p.C274C	p.C316C	NM_031206	NP_112483	Q9Y4W2	LAS1L_HUMAN			7	1020	-			316					A9X410|Q5JXQ0|Q8TEN5|Q9H9V5	Silent	SNP	ENST00000374811.3	37	c.948C>T	CCDS14381.1																																																																																				PASS	0.498	LAS1L-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000056974.1	NM_031206		7	13	7	13	---	---	---	---
LPAR4	2846	broad.mit.edu	37	X	78010794	78010794	+	Missense_Mutation	SNP	C	C	A			TCGA-22-4595-01A-01D-1267-08	TCGA-22-4595-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7fcf5123-2d1b-4666-9d39-a1aaf63cf954	850e8a4d-e0f6-4bd6-80f5-1c20e2b0e4f9	g.chrX:78010794C>A	ENST00000435339.3	+	2	814	c.428C>A	c.(427-429)cCt>cAt	p.P143H		NM_005296.2	NP_005287.1	Q99677	LPAR4_HUMAN	lysophosphatidic acid receptor 4	143					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|lipid binding (GO:0008289)	p.P143H(1)		breast(3)|endometrium(3)|kidney(4)|large_intestine(4)|lung(16)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	38						ATTGTCTATCCTTTTCGATCT	0.463																																						uc010nme.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)	3						c.(427-429)CCT>CAT		lysophosphatidic acid receptor 4							219.0	151.0	174.0					X																	78010794		2203	4300	6503	SO:0001583	missense	2846					integral to plasma membrane	lipid binding|purinergic nucleotide receptor activity, G-protein coupled	g.chrX:78010794C>A	U90322	CCDS14441.1	Xq21.1	2012-08-08	2008-04-11	2008-04-11	ENSG00000147145	ENSG00000147145		"""GPCR / Class A : Lysophospholipid receptors : Lysophosphatidic acid"""	4478	protein-coding gene	gene with protein product		300086	"""G protein-coupled receptor 23"""	GPR23			Standard	NM_005296		Approved	P2Y9, P2Y5-LIKE, P2RY9, LPA4	uc010nme.3	Q99677	OTTHUMG00000021895	ENST00000435339.3:c.428C>A	X.37:g.78010794C>A	ENSP00000408205:p.Pro143His						p.P143H	NM_005296	NP_005287	Q99677	LPAR4_HUMAN			2	833	+			143			Cytoplasmic (Potential).		B2RAC7|O15132|Q502U9|Q6NSP5	Missense_Mutation	SNP	ENST00000435339.3	37	c.428C>A	CCDS14441.1	.	.	.	.	.	.	.	.	.	.	C	17.42	3.385648	0.61956	.	.	ENSG00000147145	ENST00000435339;ENST00000373301	T;T	0.61510	0.1;0.1	4.21	4.21	0.49690	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	D	0.84192	0.5418	H	0.98238	4.18	0.58432	D	0.999998	D	0.89917	1.0	D	0.97110	1.0	D	0.90211	0.4264	10	0.87932	D	0	.	14.3969	0.67018	0.0:1.0:0.0:0.0	.	143	Q99677	LPAR4_HUMAN	H	143	ENSP00000408205:P143H;ENSP00000362398:P143H	ENSP00000362398:P143H	P	+	2	0	LPAR4	77897450	1.000000	0.71417	1.000000	0.80357	0.956000	0.61745	7.233000	0.78125	1.943000	0.56356	0.422000	0.28245	CCT		PASS	0.463	LPAR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057322.2	NM_005296		59	71	59	71	---	---	---	---
GPR174	84636	broad.mit.edu	37	X	78426664	78426664	+	Missense_Mutation	SNP	G	G	T			TCGA-22-4595-01A-01D-1267-08	TCGA-22-4595-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7fcf5123-2d1b-4666-9d39-a1aaf63cf954	850e8a4d-e0f6-4bd6-80f5-1c20e2b0e4f9	g.chrX:78426664G>T	ENST00000276077.1	+	1	196	c.160G>T	c.(160-162)Gct>Tct	p.A54S		NM_032553.1	NP_115942.1	Q9BXC1	GP174_HUMAN	G protein-coupled receptor 174	54						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.A54S(1)		central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|liver(1)|lung(19)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	38						AACAAAACGAGCTGTGATATT	0.383										HNSCC(63;0.18)																												uc004edg.1																			1	Substitution - Missense(1)		lung(1)	lung(1)|central_nervous_system(1)	2						c.(160-162)GCT>TCT		putative purinergic receptor FKSG79							106.0	82.0	90.0					X																	78426664		2202	4300	6502	SO:0001583	missense	84636					integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled	g.chrX:78426664G>T	AF345567	CCDS14443.1	Xq13.3	2012-08-21			ENSG00000147138	ENSG00000147138		"""GPCR / Class A : Orphans"""	30245	protein-coding gene	gene with protein product		300903					Standard	NM_032553		Approved	FKSG79	uc004edg.1	Q9BXC1	OTTHUMG00000021898	ENST00000276077.1:c.160G>T	X.37:g.78426664G>T	ENSP00000276077:p.Ala54Ser	HNSCC(63;0.18)					p.A54S	NM_032553	NP_115942	Q9BXC1	GP174_HUMAN			1	196	+			54			Helical; Name=2; (Potential).		Q2M3F7	Missense_Mutation	SNP	ENST00000276077.1	37	c.160G>T	CCDS14443.1	.	.	.	.	.	.	.	.	.	.	G	20.5	3.996855	0.74818	.	.	ENSG00000147138	ENST00000276077	T	0.36340	1.26	5.2	5.2	0.72013	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.51092	0.1654	L	0.41079	1.255	0.58432	D	0.999999	D	0.89917	1.0	D	0.83275	0.996	T	0.43605	-0.9381	10	0.33940	T	0.23	.	16.3133	0.82905	0.0:0.0:1.0:0.0	.	54	Q9BXC1	GP174_HUMAN	S	54	ENSP00000276077:A54S	ENSP00000276077:A54S	A	+	1	0	GPR174	78313320	1.000000	0.71417	0.996000	0.52242	0.820000	0.46376	8.841000	0.92131	2.161000	0.67846	0.538000	0.68166	GCT		PASS	0.383	GPR174-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057327.1	NM_032553		5	14	5	14	---	---	---	---
GPR174	84636	broad.mit.edu	37	X	78427455	78427455	+	Missense_Mutation	SNP	A	A	T			TCGA-22-4595-01A-01D-1267-08	TCGA-22-4595-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7fcf5123-2d1b-4666-9d39-a1aaf63cf954	850e8a4d-e0f6-4bd6-80f5-1c20e2b0e4f9	g.chrX:78427455A>T	ENST00000276077.1	+	1	987	c.951A>T	c.(949-951)aaA>aaT	p.K317N		NM_032553.1	NP_115942.1	Q9BXC1	GP174_HUMAN	G protein-coupled receptor 174	317						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.K317N(1)		central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|liver(1)|lung(19)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	38						TCCATGCAAAATCCTTTGTGA	0.393										HNSCC(63;0.18)			A|||	1	0.000264901	0.0	0.0	3775	,	,		16090	0.001		0.0	False		,,,				2504	0.0					uc004edg.1																			1	Substitution - Missense(1)		lung(1)	lung(1)|central_nervous_system(1)	2						c.(949-951)AAA>AAT		putative purinergic receptor FKSG79							90.0	77.0	82.0					X																	78427455		2203	4300	6503	SO:0001583	missense	84636					integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled	g.chrX:78427455A>T	AF345567	CCDS14443.1	Xq13.3	2012-08-21			ENSG00000147138	ENSG00000147138		"""GPCR / Class A : Orphans"""	30245	protein-coding gene	gene with protein product		300903					Standard	NM_032553		Approved	FKSG79	uc004edg.1	Q9BXC1	OTTHUMG00000021898	ENST00000276077.1:c.951A>T	X.37:g.78427455A>T	ENSP00000276077:p.Lys317Asn	HNSCC(63;0.18)					p.K317N	NM_032553	NP_115942	Q9BXC1	GP174_HUMAN			1	987	+			317			Cytoplasmic (Potential).		Q2M3F7	Missense_Mutation	SNP	ENST00000276077.1	37	c.951A>T	CCDS14443.1	.	.	.	.	.	.	.	.	.	.	a	4.458	0.084783	0.08583	.	.	ENSG00000147138	ENST00000276077	T	0.63417	-0.04	4.51	3.34	0.38264	.	0.479552	0.20787	N	0.085689	T	0.30510	0.0767	N	0.08118	0	0.18873	N	0.999981	P	0.36959	0.575	B	0.26517	0.07	T	0.09773	-1.0659	10	0.22706	T	0.39	.	4.8986	0.13762	0.8458:0.0:0.1542:0.0	.	317	Q9BXC1	GP174_HUMAN	N	317	ENSP00000276077:K317N	ENSP00000276077:K317N	K	+	3	2	GPR174	78314111	0.001000	0.12720	0.694000	0.30210	0.280000	0.26924	0.170000	0.16663	0.623000	0.30267	0.433000	0.28618	AAA		PASS	0.393	GPR174-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057327.1	NM_032553		44	47	44	47	---	---	---	---
ITM2A	9452	broad.mit.edu	37	X	78622693	78622693	+	Missense_Mutation	SNP	T	T	C			TCGA-22-4595-01A-01D-1267-08	TCGA-22-4595-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7fcf5123-2d1b-4666-9d39-a1aaf63cf954	850e8a4d-e0f6-4bd6-80f5-1c20e2b0e4f9	g.chrX:78622693T>C	ENST00000373298.2	-	1	163	c.20A>G	c.(19-21)aAt>aGt	p.N7S	ITM2A_ENST00000469541.1_5'Flank|ITM2A_ENST00000434584.2_Missense_Mutation_p.N7S	NM_004867.4	NP_004858.1	O43736	ITM2A_HUMAN	integral membrane protein 2A	7						integral component of membrane (GO:0016021)		p.N7S(1)		breast(1)|kidney(1)|large_intestine(1)|lung(10)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	18						GGTAGGGGTATTGAAGGCGAT	0.592																																						uc004edh.2																			1	Substitution - Missense(1)		lung(1)	lung(2)	2						c.(19-21)AAT>AGT		integral membrane protein 2A							46.0	33.0	38.0					X																	78622693		2203	4300	6503	SO:0001583	missense	9452					integral to membrane	protein binding	g.chrX:78622693T>C	BC034485	CCDS14444.1, CCDS55455.1	Xq13.3-q21.2	2012-10-10			ENSG00000078596	ENSG00000078596		"""BRICHOS domain containing"""	6173	protein-coding gene	gene with protein product	"""BRICHOS domain containing 2A"""	300222				9892734, 8702637	Standard	NM_004867		Approved	BRICD2A, E25A	uc004edh.3	O43736	OTTHUMG00000021900	ENST00000373298.2:c.20A>G	X.37:g.78622693T>C	ENSP00000362395:p.Asn7Ser					ITM2A_uc011mqr.1_Missense_Mutation_p.N7S	p.N7S	NM_004867	NP_004858	O43736	ITM2A_HUMAN			1	355	-			7					B2R7X5|B4E062|Q6IBC9	Missense_Mutation	SNP	ENST00000373298.2	37	c.20A>G	CCDS14444.1	.	.	.	.	.	.	.	.	.	.	T	11.71	1.719392	0.30503	.	.	ENSG00000078596	ENST00000373298;ENST00000434584	T;T	0.52057	1.86;0.68	4.11	2.95	0.34219	.	0.172533	0.49916	N	0.000138	T	0.30854	0.0778	L	0.31578	0.945	0.28534	N	0.91245	B;B	0.14438	0.002;0.01	B;B	0.13407	0.002;0.009	T	0.15378	-1.0439	10	0.36615	T	0.2	-0.1956	5.7684	0.18239	0.0:0.2227:0.0:0.7773	.	7;7	B4E062;O43736	.;ITM2A_HUMAN	S	7	ENSP00000362395:N7S;ENSP00000415533:N7S	ENSP00000362395:N7S	N	-	2	0	ITM2A	78509349	0.743000	0.28239	0.808000	0.32385	0.823000	0.46562	0.797000	0.26999	0.486000	0.27676	0.417000	0.27973	AAT		PASS	0.592	ITM2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057329.1	NM_004867		14	8	14	8	---	---	---	---
CYLC1	1538	broad.mit.edu	37	X	83128574	83128574	+	Silent	SNP	G	G	A			TCGA-22-4595-01A-01D-1267-08	TCGA-22-4595-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7fcf5123-2d1b-4666-9d39-a1aaf63cf954	850e8a4d-e0f6-4bd6-80f5-1c20e2b0e4f9	g.chrX:83128574G>A	ENST00000329312.4	+	4	895	c.858G>A	c.(856-858)aaG>aaA	p.K286K		NM_021118.1	NP_066941.1	P35663	CYLC1_HUMAN	cylicin, basic protein of sperm head cytoskeleton 1	286					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	acrosomal matrix (GO:0043159)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)	p.K285K(1)|p.K286K(1)		NS(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|liver(1)|lung(22)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	58						ATACAAAGAAGGACACAAAAA	0.303																																						uc004eei.1																			2	Substitution - coding silent(2)		lung(2)	ovary(4)|skin(1)	5						c.(856-858)AAG>AAA		cylicin, basic protein of sperm head							28.0	29.0	29.0					X																	83128574		2179	4272	6451	SO:0001819	synonymous_variant	1538				cell differentiation|multicellular organismal development|spermatogenesis	acrosomal matrix|cytoskeletal calyx	structural molecule activity	g.chrX:83128574G>A	Z22780	CCDS35341.1, CCDS75998.1	Xq21.1	2008-07-31			ENSG00000183035	ENSG00000183035			2582	protein-coding gene	gene with protein product	"""cylicin 1"""	300768				7737358, 8354692	Standard	NM_021118		Approved		uc004eei.2	P35663	OTTHUMG00000021922	ENST00000329312.4:c.858G>A	X.37:g.83128574G>A						CYLC1_uc004eeh.1_Silent_p.K285K	p.K286K	NM_021118	NP_066941	P35663	CYLC1_HUMAN			4	879	+			286			1.		A0AVQ8|Q5JQQ9	Silent	SNP	ENST00000329312.4	37	c.858G>A	CCDS35341.1																																																																																				PASS	0.303	CYLC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057371.1	NM_021118		18	16	18	16	---	---	---	---
ARMCX6	54470	broad.mit.edu	37	X	100871326	100871326	+	Missense_Mutation	SNP	G	G	T			TCGA-22-4595-01A-01D-1267-08	TCGA-22-4595-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7fcf5123-2d1b-4666-9d39-a1aaf63cf954	850e8a4d-e0f6-4bd6-80f5-1c20e2b0e4f9	g.chrX:100871326G>T	ENST00000361910.4	-	3	629	c.285C>A	c.(283-285)aaC>aaA	p.N95K	ARMCX6_ENST00000538627.1_Missense_Mutation_p.N95K|ARMCX6_ENST00000497931.1_Intron|ARMCX6_ENST00000539247.1_Missense_Mutation_p.N95K	NM_019007.3	NP_061880.2	Q7L4S7	ARMX6_HUMAN	armadillo repeat containing, X-linked 6	95						integral component of membrane (GO:0016021)		p.N95K(1)		endometrium(3)|kidney(1)|liver(2)|lung(3)	9						GGTGTGCTCGGTTGGCCTTGC	0.532																																						uc004ehx.2																			1	Substitution - Missense(1)		lung(1)		0						c.(283-285)AAC>AAA		armadillo repeat containing, X-linked 6							100.0	96.0	97.0					X																	100871326		2203	4300	6503	SO:0001583	missense	54470					integral to membrane		g.chrX:100871326G>T	BC007677	CCDS14488.1	Xq21.33-q22.3	2014-03-21			ENSG00000198960	ENSG00000198960		"""Armadillo repeat containing"""	26094	protein-coding gene	gene with protein product						16221301, 22569362	Standard	NM_001184768		Approved	FLJ20811, GASP10	uc004ehy.3	Q7L4S7	OTTHUMG00000022034	ENST00000361910.4:c.285C>A	X.37:g.100871326G>T	ENSP00000354708:p.Asn95Lys					ARMCX6_uc004ehy.2_Missense_Mutation_p.N95K	p.N95K	NM_019007	NP_061880	Q7L4S7	ARMX6_HUMAN			3	630	-			95					Q9NWJ3	Missense_Mutation	SNP	ENST00000361910.4	37	c.285C>A	CCDS14488.1	.	.	.	.	.	.	.	.	.	.	.	0.018	-1.486909	0.01018	.	.	ENSG00000198960	ENST00000361910;ENST00000539247;ENST00000538627	T;T;T	0.40476	1.03;1.03;1.03	3.56	-0.408	0.12381	.	0.291317	0.24854	N	0.035078	T	0.17662	0.0424	N	0.22421	0.69	0.09310	N	1	B	0.12013	0.005	B	0.12156	0.007	T	0.24799	-1.0150	10	0.02654	T	1	-6.8043	2.786	0.05374	0.3747:0.0:0.4197:0.2056	.	95	Q7L4S7	ARMX6_HUMAN	K	95	ENSP00000354708:N95K;ENSP00000444537:N95K;ENSP00000440648:N95K	ENSP00000354708:N95K	N	-	3	2	ARMCX6	100757982	0.125000	0.22332	0.091000	0.20842	0.996000	0.88848	-0.231000	0.09069	-0.223000	0.09943	0.472000	0.43445	AAC		PASS	0.532	ARMCX6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057562.1	NM_019007		96	135	96	135	---	---	---	---
BEX1	55859	broad.mit.edu	37	X	102318111	102318111	+	Missense_Mutation	SNP	C	C	G			TCGA-22-4595-01A-01D-1267-08	TCGA-22-4595-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7fcf5123-2d1b-4666-9d39-a1aaf63cf954	850e8a4d-e0f6-4bd6-80f5-1c20e2b0e4f9	g.chrX:102318111C>G	ENST00000372728.3	-	3	331	c.92G>C	c.(91-93)gGg>gCg	p.G31A		NM_018476.3	NP_060946.3	Q9HBH7	BEX1_HUMAN	brain expressed, X-linked 1	31					cell differentiation (GO:0030154)|nervous system development (GO:0007399)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	RNA polymerase II activating transcription factor binding (GO:0001102)	p.G31A(2)|p.G31V(1)		endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|skin(2)	12						CAAGGGCTCCCCTTTATTAGC	0.488																																						uc004ejt.1																			3	Substitution - Missense(3)		lung(2)|skin(1)	ovary(1)	1						c.(91-93)GGG>GCG		brain expressed, X-linked 1							178.0	170.0	173.0					X																	102318111		2203	4300	6503	SO:0001583	missense	55859				cell differentiation|nervous system development	cytoplasm|nucleus		g.chrX:102318111C>G		CCDS35354.1	Xq22.1	2014-03-21			ENSG00000133169	ENSG00000133169			1036	protein-coding gene	gene with protein product		300690				16221301	Standard	NM_018476		Approved		uc004ejt.1	Q9HBH7	OTTHUMG00000022708	ENST00000372728.3:c.92G>C	X.37:g.102318111C>G	ENSP00000361813:p.Gly31Ala						p.G31A	NM_018476	NP_060946	Q9HBH7	BEX1_HUMAN			3	332	-			31					A0AVN1|A8K4J3|Q9NZ33	Missense_Mutation	SNP	ENST00000372728.3	37	c.92G>C	CCDS35354.1	.	.	.	.	.	.	.	.	.	.	C	11.73	1.725288	0.30593	.	.	ENSG00000133169	ENST00000372728	T	0.08370	3.1	3.25	1.46	0.22682	.	1.665350	0.03294	N	0.188076	T	0.08268	0.0206	L	0.34521	1.04	0.09310	N	0.99999	P	0.41784	0.762	B	0.39503	0.301	T	0.26189	-1.0110	10	0.51188	T	0.08	.	4.7782	0.13189	0.0:0.6956:0.0:0.3044	.	31	Q9HBH7	BEX1_HUMAN	A	31	ENSP00000361813:G31A	ENSP00000361813:G31A	G	-	2	0	BEX1	102204767	0.038000	0.19896	0.463000	0.27130	0.893000	0.52053	0.634000	0.24614	0.257000	0.21650	0.600000	0.82982	GGG		PASS	0.488	BEX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058925.1	NM_018476		260	302	260	302	---	---	---	---
KIAA1210	57481	broad.mit.edu	37	X	118215378	118215378	+	Missense_Mutation	SNP	G	G	T			TCGA-22-4595-01A-01D-1267-08	TCGA-22-4595-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7fcf5123-2d1b-4666-9d39-a1aaf63cf954	850e8a4d-e0f6-4bd6-80f5-1c20e2b0e4f9	g.chrX:118215378G>T	ENST00000402510.2	-	14	5043	c.5044C>A	c.(5044-5046)Cca>Aca	p.P1682T		NM_020721.1	NP_065772.1	Q9ULL0	K1210_HUMAN	KIAA1210	1682								p.P1506T(1)|p.P1682T(1)		breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(31)|ovary(4)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	64						GGCTCAACTGGGTTCTGGAAC	0.478																																						uc004era.3																			2	Substitution - Missense(2)		lung(2)	ovary(4)|skin(1)	5						c.(5044-5046)CCA>ACA		hypothetical protein LOC57481							161.0	148.0	152.0					X																	118215378		1897	4101	5998	SO:0001583	missense	57481							g.chrX:118215378G>T	AB033036	CCDS48156.1	Xq24	2012-10-04			ENSG00000250423	ENSG00000250423			29218	protein-coding gene	gene with protein product						10574462	Standard	NM_020721		Approved		uc004era.4	Q9ULL0	OTTHUMG00000162980	ENST00000402510.2:c.5044C>A	X.37:g.118215378G>T	ENSP00000384670:p.Pro1682Thr						p.P1682T	NM_020721	NP_065772	Q9ULL0	K1210_HUMAN			14	5044	-			1682					B7ZCI8|Q5JPN4	Missense_Mutation	SNP	ENST00000402510.2	37	c.5044C>A	CCDS48156.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	13.31|13.31	2.199096|2.199096	0.38806|0.38806	.|.	.|.	ENSG00000248857|ENSG00000250423	ENST00000440399|ENST00000402510	.|T	.|0.15017	.|2.46	5.25|5.25	3.34|3.34	0.38264|0.38264	.|.	.|.	.|.	.|.	.|.	T|T	0.25531|0.25531	0.0621|0.0621	M|M	0.75264|0.75264	2.295|2.295	0.09310|0.09310	N|N	1|1	.|P	.|0.45126	.|0.851	.|P	.|0.47402	.|0.546	T|T	0.13953|0.13953	-1.0490|-1.0490	5|9	.|0.54805	.|T	.|0.06	.|.	5.4804|5.4804	0.16721|0.16721	0.1137:0.0:0.6932:0.1931|0.1137:0.0:0.6932:0.1931	.|.	.|1682	.|Q9ULL0	.|K1210_HUMAN	H|T	1088|1682	.|ENSP00000384670:P1682T	.|ENSP00000384670:P1682T	P|P	-|-	2|1	0|0	KIAA1210|RP13-347D8.6	118099406|118099406	0.001000|0.001000	0.12720|0.12720	0.002000|0.002000	0.10522|0.10522	0.005000|0.005000	0.04900|0.04900	0.419000|0.419000	0.21247|0.21247	0.564000|0.564000	0.29238|0.29238	-0.390000|-0.390000	0.06520|0.06520	CCC|CCA		PASS	0.478	KIAA1210-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371251.2	NM_020721		125	118	125	118	---	---	---	---
GRIA3	2892	broad.mit.edu	37	X	122319751	122319751	+	Missense_Mutation	SNP	C	C	G			TCGA-22-4595-01A-01D-1267-08	TCGA-22-4595-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7fcf5123-2d1b-4666-9d39-a1aaf63cf954	850e8a4d-e0f6-4bd6-80f5-1c20e2b0e4f9	g.chrX:122319751C>G	ENST00000371251.1	+	2	229	c.177C>G	c.(175-177)aaC>aaG	p.N59K	GRIA3_ENST00000541091.1_Missense_Mutation_p.N43K|GRIA3_ENST00000264357.5_Missense_Mutation_p.N59K|GRIA3_ENST00000371266.1_Missense_Mutation_p.N59K|GRIA3_ENST00000542149.1_Missense_Mutation_p.N59K|GRIA3_ENST00000371256.5_Missense_Mutation_p.N59K|GRIA3_ENST00000371264.3_Missense_Mutation_p.N59K|GRIA3_ENST00000479118.1_3'UTR			P42263	GRIA3_HUMAN	glutamate receptor, ionotropic, AMPA 3	59					glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|dendrite (GO:0030425)|endocytic vesicle membrane (GO:0030666)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:0004971)|extracellular-glutamate-gated ion channel activity (GO:0005234)	p.N59K(3)		breast(2)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(8)|lung(25)|ovary(3)|pancreas(2)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)	57					Lithium(DB01356)	AGTTATACAACACCAACCAGA	0.458																																						uc004etq.3																			3	Substitution - Missense(3)		lung(3)	ovary(3)|central_nervous_system(1)|pancreas(1)	5						c.(175-177)AAC>AAG		glutamate receptor, ionotrophic, AMPA 3 isoform	L-Glutamic Acid(DB00142)						177.0	133.0	148.0					X																	122319751		2203	4300	6503	SO:0001583	missense	2892				glutamate signaling pathway|synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity	g.chrX:122319751C>G	U10301	CCDS14604.1, CCDS14605.1, CCDS76017.1	Xq25	2012-08-29	2012-02-03		ENSG00000125675	ENSG00000125675		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4573	protein-coding gene	gene with protein product		305915	"""glutamate receptor, ionotrophic, AMPA 3"""	GLUR3		1319477, 10644433	Standard	NM_007325		Approved	GluA3, GLURC, MRX94	uc004etr.4	P42263	OTTHUMG00000022685	ENST00000371251.1:c.177C>G	X.37:g.122319751C>G	ENSP00000360297:p.Asn59Lys					GRIA3_uc004etr.3_Missense_Mutation_p.N59K|GRIA3_uc004ets.3_RNA|GRIA3_uc011muf.1_Missense_Mutation_p.N43K|GRIA3_uc010nqs.1_Missense_Mutation_p.N59K	p.N59K	NM_007325	NP_015564	P42263	GRIA3_HUMAN			3	470	+			59			Extracellular (Potential).		D3DTF1|Q4VXD5|Q4VXD6|Q9HDA0|Q9HDA1|Q9HDA2|Q9P0H1	Missense_Mutation	SNP	ENST00000371251.1	37	c.177C>G	CCDS14604.1	.	.	.	.	.	.	.	.	.	.	C	29.3	4.991735	0.93106	.	.	ENSG00000125675	ENST00000371266;ENST00000264357;ENST00000371264;ENST00000542149;ENST00000335161;ENST00000371256;ENST00000371251;ENST00000541091	D;D;D;D;D	0.90385	-2.66;-2.66;-2.66;-2.66;-2.66	5.67	5.67	0.87782	Extracellular ligand-binding receptor (1);	0.000000	0.85682	D	0.000000	D	0.93776	0.8010	L	0.47190	1.495	0.80722	D	1	D;D;D;D	0.89917	0.989;1.0;0.999;0.999	D;D;D;D	0.87578	0.931;0.998;0.998;0.996	D	0.94396	0.7618	10	0.87932	D	0	.	17.5992	0.88021	0.0:1.0:0.0:0.0	.	43;59;59;59	B7Z4C0;Q4TT43;P42263;P42263-2	.;.;GRIA3_HUMAN;.	K	59;59;59;59;59;59;59;43	ENSP00000264357:N59K;ENSP00000446146:N59K;ENSP00000360302:N59K;ENSP00000360297:N59K;ENSP00000446440:N43K	ENSP00000264357:N59K	N	+	3	2	GRIA3	122147432	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.745000	0.68672	2.372000	0.80975	0.600000	0.82982	AAC		PASS	0.458	GRIA3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058854.1	NM_000828		55	67	55	67	---	---	---	---
THOC2	57187	broad.mit.edu	37	X	122757717	122757717	+	Missense_Mutation	SNP	G	G	C			TCGA-22-4595-01A-01D-1267-08	TCGA-22-4595-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7fcf5123-2d1b-4666-9d39-a1aaf63cf954	850e8a4d-e0f6-4bd6-80f5-1c20e2b0e4f9	g.chrX:122757717G>C	ENST00000245838.8	-	28	3455	c.3424C>G	c.(3424-3426)Caa>Gaa	p.Q1142E	THOC2_ENST00000355725.4_Missense_Mutation_p.Q1142E|THOC2_ENST00000491737.1_Missense_Mutation_p.Q1027E	NM_001081550.1	NP_001075019.1	Q8NI27	THOC2_HUMAN	THO complex 2	1142					mRNA export from nucleus (GO:0006406)|mRNA processing (GO:0006397)|poly(A)+ mRNA export from nucleus (GO:0016973)|RNA splicing (GO:0008380)|viral mRNA export from host cell nucleus (GO:0046784)	THO complex (GO:0000347)|THO complex part of transcription export complex (GO:0000445)|transcription export complex (GO:0000346)	RNA binding (GO:0003723)	p.Q1142E(1)|p.Q1063E(1)		breast(2)|endometrium(13)|kidney(4)|large_intestine(11)|lung(26)|ovary(3)|skin(1)|upper_aerodigestive_tract(3)	63						TCCAAAGCTTGACCCAGATTC	0.363																																						uc004etu.2																			2	Substitution - Missense(2)		lung(2)	ovary(3)	3						c.(3424-3426)CAA>GAA		THO complex 2							134.0	110.0	117.0					X																	122757717		1815	4071	5886	SO:0001583	missense	57187				intronless viral mRNA export from host nucleus|mRNA processing|RNA splicing	THO complex part of transcription export complex	protein binding|RNA binding	g.chrX:122757717G>C	AF441770	CCDS43988.1	Xq25-q26.3	2013-02-11	2004-08-09		ENSG00000125676	ENSG00000125676		"""THO complex subunits"""	19073	protein-coding gene	gene with protein product		300395	"""chromosome X open reading frame 3"""	CXorf3		11979277	Standard	NM_001081550		Approved	THO2, dJ506G2.1	uc004etu.3	Q8NI27	OTTHUMG00000022334	ENST00000245838.8:c.3424C>G	X.37:g.122757717G>C	ENSP00000245838:p.Gln1142Glu					THOC2_uc010nqt.1_5'Flank|THOC2_uc004etw.1_5'Flank	p.Q1142E	NM_001081550	NP_001075019	Q8NI27	THOC2_HUMAN			28	3456	-			1142					A6NM50|Q5JZ12|Q6IN92|Q9H8I6	Missense_Mutation	SNP	ENST00000245838.8	37	c.3424C>G	CCDS43988.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	20.3|20.3	3.963871|3.963871	0.74131|0.74131	.|.	.|.	ENSG00000125676|ENSG00000125676	ENST00000245838;ENST00000355725;ENST00000491737|ENST00000438358	.|.	.|.	.|.	5.9|5.9	5.9|5.9	0.94986|0.94986	THO complex, subunitTHOC2, C-terminal (1);|.	0.000000|.	0.64402|.	D|.	0.000005|.	T|.	0.70868|.	0.3273|.	L|L	0.52573|0.52573	1.65|1.65	0.80722|0.80722	D|D	1|1	B|.	0.29766|.	0.256|.	B|.	0.42062|.	0.374|.	T|.	0.66712|.	-0.5854|.	9|.	0.09084|.	T|.	0.74|.	-9.475|-9.475	19.2205|19.2205	0.93795|0.93795	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	1142|.	Q8NI27|.	THOC2_HUMAN|.	E|X	1142;1142;1027|214	.|.	ENSP00000245838:Q1142E|.	Q|S	-|-	1|2	0|0	THOC2|THOC2	122585398|122585398	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.992000|0.992000	0.81027|0.81027	9.869000|9.869000	0.99810|0.99810	2.490000|2.490000	0.84030|0.84030	0.594000|0.594000	0.82650|0.82650	CAA|TCA		PASS	0.363	THOC2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058153.3			54	63	54	63	---	---	---	---
ATP2B3	492	broad.mit.edu	37	X	152814999	152814999	+	Silent	SNP	C	C	T	rs140403057		TCGA-22-4595-01A-01D-1267-08	TCGA-22-4595-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7fcf5123-2d1b-4666-9d39-a1aaf63cf954	850e8a4d-e0f6-4bd6-80f5-1c20e2b0e4f9	g.chrX:152814999C>T	ENST00000349466.2	+	10	1709	c.1383C>T	c.(1381-1383)tgC>tgT	p.C461C	ATP2B3_ENST00000393842.1_Silent_p.C447C|ATP2B3_ENST00000359149.3_Silent_p.C461C|ATP2B3_ENST00000263519.4_Silent_p.C461C|ATP2B3_ENST00000370186.1_Silent_p.C447C|ATP2B3_ENST00000370181.2_Silent_p.C447C			Q16720	AT2B3_HUMAN	ATPase, Ca++ transporting, plasma membrane 3	461					blood coagulation (GO:0007596)|cell death (GO:0008219)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)|transport (GO:0006810)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	ATP binding (GO:0005524)|calcium-transporting ATPase activity (GO:0005388)|metal ion binding (GO:0046872)	p.C461C(3)|p.C447C(1)		NS(2)|breast(5)|endometrium(7)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|skin(3)	50	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					TGGATGCCTGCGAGACCATGG	0.592																																						uc004fht.1																			4	Substitution - coding silent(4)		lung(4)	pancreas(1)	1						c.(1381-1383)TGC>TGT		plasma membrane calcium ATPase 3 isoform 3b		T	,	1,3834		0,1,1631,571	181.0	142.0	155.0		1383,1383	-3.8	1.0	X	dbSNP_134	155	0,6728		0,0,2428,1872	no	coding-synonymous,coding-synonymous	ATP2B3	NM_001001344.2,NM_021949.3	,	0,1,4059,2443	TT,TC,CC,C		0.0,0.0261,0.0095	,	461/1221,461/1174	152814999	1,10562	2203	4300	6503	SO:0001819	synonymous_variant	492				ATP biosynthetic process|platelet activation	integral to membrane|plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding	g.chrX:152814999C>T	U60414	CCDS14722.1, CCDS35440.1	Xq28	2014-07-18			ENSG00000067842	ENSG00000067842	3.6.3.8	"""ATPases / P-type"""	816	protein-coding gene	gene with protein product	"""plasma membrane calcium-transporting ATPase 3"", ""cilia and flagella associated protein 39"""	300014	"""spinocerebellar ataxia, X-linked 1"", ""cerebellar ataxia 2 (X-linked)"""	SCAX1, CLA2		8187550, 22912398	Standard	NM_021949		Approved	PMCA3, CFAP39	uc004fht.1	Q16720	OTTHUMG00000024202	ENST00000349466.2:c.1383C>T	X.37:g.152814999C>T						ATP2B3_uc004fhs.1_Silent_p.C461C	p.C461C	NM_001001344	NP_001001344	Q16720	AT2B3_HUMAN			9	1509	+	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)		461			Cytoplasmic (Potential).		B7WNR8|B7WNY5|Q12995|Q16858	Silent	SNP	ENST00000349466.2	37	c.1383C>T	CCDS35440.1																																																																																				PASS	0.592	ATP2B3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060957.1	NM_021949		5	224	5	224	---	---	---	---
DDX3Y	8653	broad.mit.edu	37	Y	15023843	15023843	+	Missense_Mutation	SNP	G	G	C			TCGA-22-4595-01A-01D-1267-08	TCGA-22-4595-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7fcf5123-2d1b-4666-9d39-a1aaf63cf954	850e8a4d-e0f6-4bd6-80f5-1c20e2b0e4f9	g.chrY:15023843G>C	ENST00000336079.3	+	4	350	c.244G>C	c.(244-246)Ggt>Cgt	p.G82R	DDX3Y_ENST00000360160.4_Missense_Mutation_p.G82R	NM_001122665.1|NM_004660.3	NP_001116137.1|NP_004651.2	O15523	DDX3Y_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 3, Y-linked	82						cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|DNA binding (GO:0003677)|RNA binding (GO:0003723)	p.G82R(1)		kidney(1)|liver(2)|lung(1)|upper_aerodigestive_tract(1)	5						AGGAAAGCCTGGTTATTTCAG	0.383																																						uc004fsu.1																			1	Substitution - Missense(1)		lung(1)		0						c.(244-246)GGT>CGT		DEAD (Asp-Glu-Ala-Asp) box polypeptide 3,							125.0	116.0	118.0					Y																	15023843		620	1976	2596	SO:0001583	missense	8653					cytoplasm|nucleus	ATP binding|ATP-dependent helicase activity|DNA binding|RNA binding	g.chrY:15023843G>C	AF000984	CCDS14782.1	Yq11	2013-07-16	2013-07-16	2003-06-20	ENSG00000067048	ENSG00000067048		"""DEAD-boxes"""	2699	protein-coding gene	gene with protein product		400010	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide, Y chromosome"", ""DEAD (Asp-Glu-Ala-Asp) box polypeptide 3, Y-linked"""	DBY		9381176	Standard	NM_004660		Approved		uc004fsv.2	O15523	OTTHUMG00000036324	ENST00000336079.3:c.244G>C	Y.37:g.15023843G>C	ENSP00000336725:p.Gly82Arg					DDX3Y_uc010nwv.1_Missense_Mutation_p.G82R|DDX3Y_uc011naq.1_Missense_Mutation_p.G82R|DDX3Y_uc004fsv.2_Missense_Mutation_p.G82R|DDX3Y_uc010nww.1_Intron|DDX3Y_uc011nar.1_Missense_Mutation_p.G79R	p.G82R	NM_001122665	NP_001116137	O15523	DDX3Y_HUMAN			5	553	+			82					B4DK29|B4DXX7|Q8IYV7	Missense_Mutation	SNP	ENST00000336079.3	37	c.244G>C	CCDS14782.1																																																																																				PASS	0.383	DDX3Y-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088407.1	NM_004660		85	99	85	99	---	---	---	---
KDM5D	8284	broad.mit.edu	37	Y	21894629	21894629	+	Splice_Site	SNP	C	C	A			TCGA-22-4595-01A-01D-1267-08	TCGA-22-4595-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7fcf5123-2d1b-4666-9d39-a1aaf63cf954	850e8a4d-e0f6-4bd6-80f5-1c20e2b0e4f9	g.chrY:21894629C>A	ENST00000317961.4	-	9	1205		c.e9-1		KDM5D_ENST00000382806.2_Splice_Site|KDM5D_ENST00000541639.1_Splice_Site	NM_004653.4	NP_004644.2	Q9BY66	KDM5D_HUMAN	lysine (K)-specific demethylase 5D						histone H3-K4 demethylation (GO:0034720)	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.?(1)		kidney(1)|large_intestine(9)|lung(6)|skin(1)	17					Vitamin C(DB00126)	ATGAGTCAATCTACCAAAAAA	0.363																																						uc004fug.2																			1	Unknown(1)		lung(1)	skin(1)	1						c.e9-1		jumonji, AT rich interactive domain 1D isoform	Vitamin C(DB00126)																																			SO:0001630	splice_region_variant	8284				chromatin modification|spermatogenesis	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.chrY:21894629C>A	U52191	CCDS14794.1, CCDS55554.1, CCDS55555.1	Yq11	2013-01-28	2009-04-06	2009-04-06	ENSG00000012817	ENSG00000012817		"""Chromatin-modifying enzymes / K-demethylases"", ""Zinc fingers, PHD-type"""	11115	protein-coding gene	gene with protein product		426000	"""Jumonji, AT rich interactive domain 1D (RBP2-like)"", ""Smcy homolog, Y-linked (mouse)"", ""jumonji, AT rich interactive domain 1D"""	HYA, HY, SMCY, JARID1D		795123, 8841177	Standard	NM_001146705		Approved	KIAA0234	uc011naz.2	Q9BY66	OTTHUMG00000036508	ENST00000317961.4:c.934-1G>T	Y.37:g.21894629C>A						KDM5D_uc011naz.1_Splice_Site_p.I312_splice|KDM5D_uc010nwy.2_Splice_Site_p.I255_splice|KDM5D_uc011nba.1_Splice_Site_p.I312_splice|KDM5D_uc004fuh.2_Splice_Site_p.I267_splice	p.I312_splice	NM_004653	NP_004644	Q9BY66	KDM5D_HUMAN			9	1222	-								A2RU19|A6H8V7|B7ZLX1|Q92509|Q92809|Q9HCU1	Splice_Site	SNP	ENST00000317961.4	37	c.934_splice	CCDS14794.1	.	.	.	.	.	.	.	.	.	.	.	8.746	0.920220	0.17982	.	.	ENSG00000012817	ENST00000447300	.	.	.	1.02	1.02	0.19986	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-1	.	.	.	-	.	.	KDM5D	20354017	1.000000	0.71417	0.690000	0.30148	0.359000	0.29487	5.988000	0.70579	0.908000	0.36671	0.064000	0.15345	.		PASS	0.363	KDM5D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088790.1	NM_004653	Intron	6	13	6	13	---	---	---	---
GUCY1B3	2983	broad.mit.edu	37	4	156721094	156721094	+	Frame_Shift_Del	DEL	C	C	-			TCGA-22-4595-01A-01D-1267-08	TCGA-22-4595-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7fcf5123-2d1b-4666-9d39-a1aaf63cf954	850e8a4d-e0f6-4bd6-80f5-1c20e2b0e4f9	g.chr4:156721094delC	ENST00000264424.8	+	9	1125	c.1043delC	c.(1042-1044)gccfs	p.A348fs	GUCY1B3_ENST00000507146.1_Frame_Shift_Del_p.A280fs|GUCY1B3_ENST00000513437.1_Frame_Shift_Del_p.A280fs|GUCY1B3_ENST00000505764.1_Frame_Shift_Del_p.A328fs|GUCY1B3_ENST00000503520.1_Frame_Shift_Del_p.A348fs|GUCY1B3_ENST00000505154.1_Frame_Shift_Del_p.A280fs|GUCY1B3_ENST00000502959.1_Frame_Shift_Del_p.A370fs	NM_000857.2	NP_000848.1	Q02153	GCYB1_HUMAN	guanylate cyclase 1, soluble, beta 3	348					blood circulation (GO:0008015)|blood coagulation (GO:0007596)|nitric oxide mediated signal transduction (GO:0007263)	cytoplasm (GO:0005737)|guanylate cyclase complex, soluble (GO:0008074)|intracellular membrane-bounded organelle (GO:0043231)	GTP binding (GO:0005525)|guanylate cyclase activity (GO:0004383)|heme binding (GO:0020037)|metal ion binding (GO:0046872)|receptor activity (GO:0004872)			NS(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28	all_hematologic(180;0.24)	Renal(120;0.0854)		COAD - Colon adenocarcinoma(41;0.148)		CTGCATGATGCCACGCGCGAT	0.458																																						uc003ipc.2																			0					0						c.(1042-1044)GCCfs		guanylate cyclase 1, soluble, beta 3							128.0	121.0	123.0					4																	156721094		1938	4157	6095	SO:0001589	frameshift_variant	2983				blood circulation|intracellular signal transduction|nitric oxide mediated signal transduction|platelet activation	guanylate cyclase complex, soluble|intracellular membrane-bounded organelle	GTP binding|guanylate cyclase activity|receptor activity	g.chr4:156721094delC	AF020340	CCDS47154.1, CCDS75203.1	4q31.3-q33	2008-03-18			ENSG00000061918	ENSG00000061918	4.6.1.2		4687	protein-coding gene	gene with protein product		139397		GUC1B3		1352257	Standard	XM_005262959		Approved	GC-SB3, GC-S-beta-1	uc003ipc.3	Q02153	OTTHUMG00000161698	ENST00000264424.8:c.1043delC	4.37:g.156721094delC	ENSP00000264424:p.Ala348fs					GUCY1B3_uc011cio.1_Frame_Shift_Del_p.A370fs|GUCY1B3_uc011cip.1_Frame_Shift_Del_p.A328fs|GUCY1B3_uc003ipd.2_Frame_Shift_Del_p.A276fs|GUCY1B3_uc010iqf.2_Frame_Shift_Del_p.A348fs|GUCY1B3_uc010iqg.2_Frame_Shift_Del_p.A276fs|GUCY1B3_uc011ciq.1_Frame_Shift_Del_p.A276fs	p.A348fs	NM_000857	NP_000848	Q02153	GCYB1_HUMAN		COAD - Colon adenocarcinoma(41;0.148)	9	1210	+	all_hematologic(180;0.24)	Renal(120;0.0854)	348					B7Z426|Q86WY5	Frame_Shift_Del	DEL	ENST00000264424.8	37	c.1043delC	CCDS47154.1																																																																																					0.458	GUCY1B3-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365770.2			81	48	81	48	---	---	---	---
KRTAP5-5	439915	broad.mit.edu	37	11	1651191	1651199	+	In_Frame_Del	DEL	GGCTGTGGA	GGCTGTGGA	-	rs71025763|rs144216147	byFrequency	TCGA-22-4595-01A-01D-1267-08	TCGA-22-4595-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7fcf5123-2d1b-4666-9d39-a1aaf63cf954	850e8a4d-e0f6-4bd6-80f5-1c20e2b0e4f9	g.chr11:1651191_1651199delGGCTGTGGA	ENST00000399676.2	+	1	159_167	c.121_129delGGCTGTGGA	c.(121-129)ggctgtggadel	p.GCG47del		NM_001001480.2	NP_001001480.2	Q701N2	KRA55_HUMAN	keratin associated protein 5-5	47						keratin filament (GO:0045095)				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|urinary_tract(1)	33		all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)		ctgtggctccggctgtggaggctgtgggg	0.713																																						uc001lty.2																			0				lung(1)	1						c.(121-129)GGCTGTGGAdel		keratin associated protein 5-5				727,2515		74,579,968						1.8	0.6		dbSNP_130	24	1587,5219		143,1301,1959	no	coding	KRTAP5-5	NM_001001480.2		217,1880,2927	A1A1,A1R,RR		23.3177,22.4244,23.0295				2314,7734				SO:0001651	inframe_deletion	439915					keratin filament		g.chr11:1651191_1651199delGGCTGTGGA	AB125074	CCDS41592.1	11p15.5	2008-10-30			ENSG00000185940	ENSG00000185940		"""Keratin associated proteins"""	23601	protein-coding gene	gene with protein product						15144888	Standard	NM_001001480		Approved	KRTAP5.5, KRTAP5-11	uc001lty.3	Q701N2	OTTHUMG00000057554	ENST00000399676.2:c.121_129delGGCTGTGGA	11.37:g.1651191_1651199delGGCTGTGGA	ENSP00000382584:p.Gly47_Gly49del						p.GCG47del	NM_001001480	NP_001001480	Q701N2	KRA55_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)	1	159_167	+		all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)	47_49					A8MWN2	In_Frame_Del	DEL	ENST00000399676.2	37	c.121_129delGGCTGTGGA	CCDS41592.1																																																																																					0.713	KRTAP5-5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000127919.1			21	13	21	13	---	---	---	---
KIF2B	84643	broad.mit.edu	37	17	51902235	51902236	+	Frame_Shift_Ins	INS	-	-	G			TCGA-22-4595-01A-01D-1267-08	TCGA-22-4595-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7fcf5123-2d1b-4666-9d39-a1aaf63cf954	850e8a4d-e0f6-4bd6-80f5-1c20e2b0e4f9	g.chr17:51902235_51902236insG	ENST00000268919.4	+	1	1997_1998	c.1841_1842insG	c.(1840-1845)aagggafs	p.KG614fs		NM_032559.4	NP_115948.4	Q8N4N8	KIF2B_HUMAN	kinesin family member 2B	614					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|metabolic process (GO:0008152)|microtubule depolymerization (GO:0007019)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|regulation of chromosome segregation (GO:0051983)	cytosol (GO:0005829)|kinesin complex (GO:0005871)|kinetochore (GO:0000776)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(15)|lung(58)|ovary(5)|prostate(4)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						ATTTCAGGGAAGGGATCTAGCC	0.426																																						uc002iua.2																			0				ovary(5)|skin(3)	8						c.(1840-1842)AAGfs		kinesin family member 2B																																				SO:0001589	frameshift_variant	84643				blood coagulation|cell division|microtubule depolymerization|microtubule-based movement|mitotic prometaphase|regulation of chromosome segregation	condensed chromosome kinetochore|cytosol|microtubule|microtubule organizing center|nucleolus|spindle	ATP binding|microtubule motor activity	g.chr17:51902235_51902236insG	AF333335	CCDS32685.1	17q22	2014-08-12			ENSG00000141200	ENSG00000141200		"""Kinesins"""	29443	protein-coding gene	gene with protein product		615142				11416179	Standard	NM_032559		Approved		uc002iua.2	Q8N4N8	OTTHUMG00000177756	ENST00000268919.4:c.1844dupG	17.37:g.51902238_51902238dupG	ENSP00000268919:p.Lys614fs					uc010wna.1_RNA	p.K614fs	NM_032559	NP_115948	Q8N4N8	KIF2B_HUMAN			1	1997_1998	+			614					Q96MA2|Q9BXG6	Frame_Shift_Ins	INS	ENST00000268919.4	37	c.1841_1842insG	CCDS32685.1																																																																																					0.426	KIF2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438854.1	NM_032559		216	102	216	102	---	---	---	---
ZNF397	84307	broad.mit.edu	37	18	32825471	32825474	+	Frame_Shift_Del	DEL	CTAA	CTAA	-			TCGA-22-4595-01A-01D-1267-08	TCGA-22-4595-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7fcf5123-2d1b-4666-9d39-a1aaf63cf954	850e8a4d-e0f6-4bd6-80f5-1c20e2b0e4f9	g.chr18:32825471_32825474delCTAA	ENST00000330501.7	+	4	955_958	c.802_805delCTAA	c.(802-807)ctaactfs	p.LT268fs	ZNF397_ENST00000355632.4_Intron|ZNF397_ENST00000589420.1_Intron|ZNF397_ENST00000261333.6_Intron|ZNF397_ENST00000592264.1_Intron	NM_001135178.2	NP_001128650.1	Q8NF99	ZN397_HUMAN	zinc finger protein 397	268					transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|endometrium(1)|large_intestine(3)|lung(5)|skin(1)	12						ATGCTTGATTCTAACTACAGACTC	0.417																																						uc010dmp.2																			0					0						c.(802-807)CTAACTfs		zinc finger protein 397 isoform 1																																				SO:0001589	frameshift_variant	84307				viral reproduction	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr18:32825471_32825474delCTAA	BC006172	CCDS32814.1, CCDS45852.1	18p12	2013-01-09	2003-07-22			ENSG00000186812		"""-"", ""Zinc fingers, C2H2-type"""	18818	protein-coding gene	gene with protein product		609601	"""zinc finger protein 47"""	ZNF47			Standard	NM_032347		Approved	ZSCAN15, MGC13250	uc010dmp.3	Q8NF99		ENST00000330501.7:c.802_805delCTAA	18.37:g.32825471_32825474delCTAA	ENSP00000331577:p.Leu268fs					ZNF397_uc010dmq.2_Intron|ZNF397_uc010dmr.2_Intron|ZNF397_uc002kyj.2_Intron	p.L268fs	NM_001135178	NP_001128650	Q8NF99	ZN397_HUMAN			4	958_961	+			268_269					Q9BRM2	Frame_Shift_Del	DEL	ENST00000330501.7	37	c.802_805delCTAA	CCDS45852.1																																																																																					0.417	ZNF397-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442398.1	NM_032347		3	3	3	3	---	---	---	---
