#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	1273368	1273368	+	Missense_Mutation	SNP	T	T	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr1:1273368T>A	ENST00000378888.5	-	14	1987	c.1703A>T	c.(1702-1704)cAg>cTg	p.Q568L	DVL1_ENST00000378891.5_Missense_Mutation_p.Q543L			O14640	DVL1_HUMAN	dishevelled segment polarity protein 1	568					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.Q543L(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)		TTCACTCTGCTGACTCCCGGT	0.701																																						uc001aer.3																			1	Substitution - Missense(1)		lung(1)		0						c.(1627-1629)CAG>CTG		dishevelled 1							14.0	20.0	18.0					1																	1273368		2184	4279	6463	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.chr1:1273368T>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.1703A>T	1.37:g.1273368T>A	ENSP00000368166:p.Gln568Leu					DVL1_uc002quu.2_Missense_Mutation_p.Q285L|DVL1_uc009vka.2_Missense_Mutation_p.Q226L|DVL1_uc001aeu.1_Missense_Mutation_p.Q302L	p.Q543L	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)	14	1675	-	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)	568					Q5TA33|Q5TA35	Missense_Mutation	SNP	ENST00000378888.5	37	c.1628A>T		.	.	.	.	.	.	.	.	.	.	T	15.60	2.882692	0.51908	.	.	ENSG00000107404	ENST00000378891;ENST00000378888;ENST00000345100;ENST00000263743	T;T	0.06294	3.32;3.34	4.57	3.43	0.39272	Dishevelled C-terminal (2);	0.134053	0.51477	D	0.000083	T	0.20292	0.0488	M	0.81802	2.56	0.80722	D	1	D;P;D;P	0.61697	0.976;0.901;0.99;0.879	P;P;D;B	0.64042	0.724;0.559;0.921;0.324	T	0.00795	-1.1563	10	0.38643	T	0.18	.	9.7437	0.40433	0.0:0.0829:0.0:0.9171	.	226;568;543;543	G3XA93;O14640;P54792;O14640-2	.;DVL1_HUMAN;DVL1L_HUMAN;.	L	543;568;317;226	ENSP00000368169:Q543L;ENSP00000368166:Q568L	ENSP00000263743:Q226L	Q	-	2	0	DVL1	1263231	1.000000	0.71417	1.000000	0.80357	0.909000	0.53808	5.796000	0.69080	1.850000	0.53721	0.374000	0.22700	CAG		PASS	0.701	DVL1-004	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000008490.1	NM_004421		3	6	3	6	---	---	---	---
KCNAB2	8514	broad.mit.edu	37	1	6133813	6133813	+	Missense_Mutation	SNP	G	G	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr1:6133813G>A	ENST00000164247.1	+	5	748	c.184G>A	c.(184-186)Ggc>Agc	p.G62S	KCNAB2_ENST00000378092.1_Missense_Mutation_p.G48S|KCNAB2_ENST00000341524.1_Missense_Mutation_p.G62S|KCNAB2_ENST00000378083.3_Missense_Mutation_p.G95S|KCNAB2_ENST00000352527.1_Missense_Mutation_p.G48S|KCNAB2_ENST00000378097.1_Missense_Mutation_p.G62S|KCNAB2_ENST00000458166.2_5'UTR|KCNAB2_ENST00000378087.3_Missense_Mutation_p.G62S|KCNAB2_ENST00000602612.1_Missense_Mutation_p.G62S|KCNAB2_ENST00000378111.1_Missense_Mutation_p.G62S	NM_001199860.1	NP_001186789.1	Q13303	KCAB2_HUMAN	potassium voltage-gated channel, shaker-related subfamily, beta member 2	62					hematopoietic progenitor cell differentiation (GO:0002244)|protein heterooligomerization (GO:0051291)|synaptic transmission (GO:0007268)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|juxtaparanode region of axon (GO:0044224)|plasma membrane (GO:0005886)	potassium channel regulator activity (GO:0015459)|voltage-gated potassium channel activity (GO:0005249)	p.G62S(1)		large_intestine(1)|lung(4)|skin(3)	8	Ovarian(185;0.0634)	all_cancers(23;5.85e-39)|all_epithelial(116;4.88e-22)|all_lung(118;4.21e-08)|Lung NSC(185;9.77e-07)|all_hematologic(16;2.78e-06)|all_neural(13;3.18e-06)|Acute lymphoblastic leukemia(12;0.000272)|Breast(487;0.000496)|Renal(390;0.0007)|Colorectal(325;0.00106)|Glioma(11;0.00203)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0393)|Medulloblastoma(700;0.211)		Epithelial(90;6.9e-37)|GBM - Glioblastoma multiforme(13;8.8e-31)|OV - Ovarian serous cystadenocarcinoma(86;1.45e-19)|Colorectal(212;2.46e-07)|COAD - Colon adenocarcinoma(227;2.07e-05)|Kidney(185;7.88e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00131)|BRCA - Breast invasive adenocarcinoma(365;0.00133)|STAD - Stomach adenocarcinoma(132;0.00391)|READ - Rectum adenocarcinoma(331;0.0649)		GACCTTCGGAGGCCAGATCAC	0.597																																						uc009vlv.1																			1	Substitution - Missense(1)		lung(1)		0						c.(184-186)GGC>AGC		potassium voltage-gated channel, shaker-related							114.0	104.0	108.0					1																	6133813		2203	4300	6503	SO:0001583	missense	8514					cytoplasm|integral to membrane|juxtaparanode region of axon	oxidoreductase activity|potassium channel regulator activity|voltage-gated potassium channel activity	g.chr1:6133813G>A	U33429	CCDS55.1, CCDS56.1, CCDS55570.1, CCDS55571.1	1p36.3	2008-02-05			ENSG00000069424	ENSG00000069424		"""Potassium channels"", ""Aldo-keto reductases"""	6229	protein-coding gene	gene with protein product		601142				8838324	Standard	NM_003636		Approved	AKR6A5, KCNA2B, HKvbeta2.1, HKvbeta2.2	uc001aly.2	Q13303	OTTHUMG00000000795	ENST00000164247.1:c.184G>A	1.37:g.6133813G>A	ENSP00000164247:p.Gly62Ser					KCNAB2_uc001alv.1_Missense_Mutation_p.G62S|KCNAB2_uc001alw.1_Missense_Mutation_p.G48S|KCNAB2_uc001alx.1_Missense_Mutation_p.G62S|KCNAB2_uc001aly.1_Missense_Mutation_p.G95S|KCNAB2_uc009vlw.1_5'UTR|KCNAB2_uc001alu.2_Missense_Mutation_p.G62S	p.G62S	NM_003636	NP_003627	Q13303	KCAB2_HUMAN		Epithelial(90;6.9e-37)|GBM - Glioblastoma multiforme(13;8.8e-31)|OV - Ovarian serous cystadenocarcinoma(86;1.45e-19)|Colorectal(212;2.46e-07)|COAD - Colon adenocarcinoma(227;2.07e-05)|Kidney(185;7.88e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00131)|BRCA - Breast invasive adenocarcinoma(365;0.00133)|STAD - Stomach adenocarcinoma(132;0.00391)|READ - Rectum adenocarcinoma(331;0.0649)	5	319	+	Ovarian(185;0.0634)	all_cancers(23;5.85e-39)|all_epithelial(116;4.88e-22)|all_lung(118;4.21e-08)|Lung NSC(185;9.77e-07)|all_hematologic(16;2.78e-06)|all_neural(13;3.18e-06)|Acute lymphoblastic leukemia(12;0.000272)|Breast(487;0.000496)|Renal(390;0.0007)|Colorectal(325;0.00106)|Glioma(11;0.00203)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0393)|Medulloblastoma(700;0.211)	62					A0AVM9|A8K1A4|B0AZR7|O43659|Q5TG82|Q5TG83|Q6ZNE4|Q99411	Missense_Mutation	SNP	ENST00000164247.1	37	c.184G>A	CCDS55.1	.	.	.	.	.	.	.	.	.	.	G	15.01	2.706061	0.48412	.	.	ENSG00000069424	ENST00000378111;ENST00000378097;ENST00000378092;ENST00000428161;ENST00000389632;ENST00000378087;ENST00000341524;ENST00000352527;ENST00000435937;ENST00000164247;ENST00000378083	T;T;T;T;T;T;T;T;T;T;T	0.23147	1.92;1.92;1.92;1.92;1.92;1.92;1.92;1.92;1.92;1.92;1.92	5.04	4.13	0.48395	NADP-dependent oxidoreductase domain (3);	0.102910	0.64402	D	0.000003	T	0.19208	0.0461	N	0.16066	0.365	0.80722	D	1	B;B;B;B	0.18310	0.003;0.006;0.009;0.027	B;B;B;B	0.34873	0.033;0.008;0.029;0.191	T	0.07770	-1.0755	10	0.29301	T	0.29	-15.1966	12.6143	0.56567	0.0803:0.0:0.9197:0.0	.	95;48;62;62	Q13303-3;Q13303-2;Q13303;Q2YD85	.;.;KCAB2_HUMAN;.	S	62;62;48;48;62;62;62;48;48;62;95	ENSP00000367351:G62S;ENSP00000367337:G62S;ENSP00000367332:G48S;ENSP00000400285:G48S;ENSP00000374283:G62S;ENSP00000367327:G62S;ENSP00000340824:G62S;ENSP00000318772:G48S;ENSP00000389151:G48S;ENSP00000164247:G62S;ENSP00000367323:G95S	ENSP00000164247:G62S	G	+	1	0	KCNAB2	6056400	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.641000	0.74324	1.247000	0.43917	0.650000	0.86243	GGC		PASS	0.597	KCNAB2-006	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000002114.3	NM_172130		25	102	25	102	---	---	---	---
KCNAB2	8514	broad.mit.edu	37	1	6155592	6155592	+	Missense_Mutation	SNP	G	G	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr1:6155592G>T	ENST00000164247.1	+	13	1276	c.712G>T	c.(712-714)Gtg>Ttg	p.V238L	KCNAB2_ENST00000378092.1_Missense_Mutation_p.V224L|KCNAB2_ENST00000341524.1_Missense_Mutation_p.V238L|KCNAB2_ENST00000378083.3_Missense_Mutation_p.V286L|KCNAB2_ENST00000352527.1_Missense_Mutation_p.V224L|KCNAB2_ENST00000378097.1_Missense_Mutation_p.V238L|KCNAB2_ENST00000458166.2_Missense_Mutation_p.V171L|KCNAB2_ENST00000378087.3_Intron|KCNAB2_ENST00000602612.1_Missense_Mutation_p.V238L|KCNAB2_ENST00000378111.1_Intron	NM_001199860.1	NP_001186789.1	Q13303	KCAB2_HUMAN	potassium voltage-gated channel, shaker-related subfamily, beta member 2	238					hematopoietic progenitor cell differentiation (GO:0002244)|protein heterooligomerization (GO:0051291)|synaptic transmission (GO:0007268)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|juxtaparanode region of axon (GO:0044224)|plasma membrane (GO:0005886)	potassium channel regulator activity (GO:0015459)|voltage-gated potassium channel activity (GO:0005249)	p.V238L(1)		large_intestine(1)|lung(4)|skin(3)	8	Ovarian(185;0.0634)	all_cancers(23;5.85e-39)|all_epithelial(116;4.88e-22)|all_lung(118;4.21e-08)|Lung NSC(185;9.77e-07)|all_hematologic(16;2.78e-06)|all_neural(13;3.18e-06)|Acute lymphoblastic leukemia(12;0.000272)|Breast(487;0.000496)|Renal(390;0.0007)|Colorectal(325;0.00106)|Glioma(11;0.00203)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0393)|Medulloblastoma(700;0.211)		Epithelial(90;6.9e-37)|GBM - Glioblastoma multiforme(13;8.8e-31)|OV - Ovarian serous cystadenocarcinoma(86;1.45e-19)|Colorectal(212;2.46e-07)|COAD - Colon adenocarcinoma(227;2.07e-05)|Kidney(185;7.88e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00131)|BRCA - Breast invasive adenocarcinoma(365;0.00133)|STAD - Stomach adenocarcinoma(132;0.00391)|READ - Rectum adenocarcinoma(331;0.0649)		CTCTTCAGGAGTGGGCGCCAT	0.632																																						uc009vlv.1																			1	Substitution - Missense(1)		lung(1)		0						c.(712-714)GTG>TTG		potassium voltage-gated channel, shaker-related							86.0	85.0	85.0					1																	6155592		2203	4299	6502	SO:0001583	missense	8514					cytoplasm|integral to membrane|juxtaparanode region of axon	oxidoreductase activity|potassium channel regulator activity|voltage-gated potassium channel activity	g.chr1:6155592G>T	U33429	CCDS55.1, CCDS56.1, CCDS55570.1, CCDS55571.1	1p36.3	2008-02-05			ENSG00000069424	ENSG00000069424		"""Potassium channels"", ""Aldo-keto reductases"""	6229	protein-coding gene	gene with protein product		601142				8838324	Standard	NM_003636		Approved	AKR6A5, KCNA2B, HKvbeta2.1, HKvbeta2.2	uc001aly.2	Q13303	OTTHUMG00000000795	ENST00000164247.1:c.712G>T	1.37:g.6155592G>T	ENSP00000164247:p.Val238Leu					KCNAB2_uc001alv.1_Missense_Mutation_p.V238L|KCNAB2_uc001alw.1_Missense_Mutation_p.V224L|KCNAB2_uc001alx.1_Missense_Mutation_p.V238L|KCNAB2_uc001aly.1_Missense_Mutation_p.V286L|KCNAB2_uc009vlw.1_Missense_Mutation_p.V171L|KCNAB2_uc001alu.2_Missense_Mutation_p.V238L	p.V238L	NM_003636	NP_003627	Q13303	KCAB2_HUMAN		Epithelial(90;6.9e-37)|GBM - Glioblastoma multiforme(13;8.8e-31)|OV - Ovarian serous cystadenocarcinoma(86;1.45e-19)|Colorectal(212;2.46e-07)|COAD - Colon adenocarcinoma(227;2.07e-05)|Kidney(185;7.88e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00131)|BRCA - Breast invasive adenocarcinoma(365;0.00133)|STAD - Stomach adenocarcinoma(132;0.00391)|READ - Rectum adenocarcinoma(331;0.0649)	13	847	+	Ovarian(185;0.0634)	all_cancers(23;5.85e-39)|all_epithelial(116;4.88e-22)|all_lung(118;4.21e-08)|Lung NSC(185;9.77e-07)|all_hematologic(16;2.78e-06)|all_neural(13;3.18e-06)|Acute lymphoblastic leukemia(12;0.000272)|Breast(487;0.000496)|Renal(390;0.0007)|Colorectal(325;0.00106)|Glioma(11;0.00203)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0393)|Medulloblastoma(700;0.211)	238					A0AVM9|A8K1A4|B0AZR7|O43659|Q5TG82|Q5TG83|Q6ZNE4|Q99411	Missense_Mutation	SNP	ENST00000164247.1	37	c.712G>T	CCDS55.1	.	.	.	.	.	.	.	.	.	.	G	14.63	2.591699	0.46214	.	.	ENSG00000069424	ENST00000378097;ENST00000378092;ENST00000428161;ENST00000389632;ENST00000341524;ENST00000352527;ENST00000164247;ENST00000378083;ENST00000458166	T;T;T;T;T;T;T;T;T	0.31510	1.49;1.49;1.49;1.49;1.49;1.49;1.49;1.49;1.49	4.75	4.75	0.60458	NADP-dependent oxidoreductase domain (3);	0.000000	0.85682	D	0.000000	T	0.23249	0.0562	N	0.24115	0.695	0.80722	D	1	B;B;B;B	0.31054	0.306;0.042;0.052;0.003	B;B;B;B	0.37091	0.241;0.052;0.054;0.012	T	0.02766	-1.1113	10	0.07325	T	0.83	-19.8608	16.3108	0.82869	0.0:0.0:1.0:0.0	.	286;224;238;238	Q13303-3;Q13303-2;Q13303;Q2YD85	.;.;KCAB2_HUMAN;.	L	238;224;224;238;238;224;238;286;171	ENSP00000367337:V238L;ENSP00000367332:V224L;ENSP00000400285:V224L;ENSP00000374283:V238L;ENSP00000340824:V238L;ENSP00000318772:V224L;ENSP00000164247:V238L;ENSP00000367323:V286L;ENSP00000396167:V171L	ENSP00000164247:V238L	V	+	1	0	KCNAB2	6078179	1.000000	0.71417	1.000000	0.80357	0.834000	0.47266	9.736000	0.98828	2.187000	0.69744	0.561000	0.74099	GTG		PASS	0.632	KCNAB2-006	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000002114.3	NM_172130		19	51	19	51	---	---	---	---
NOL9	79707	broad.mit.edu	37	1	6586794	6586794	+	Missense_Mutation	SNP	C	C	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr1:6586794C>T	ENST00000377705.5	-	11	1953	c.1921G>A	c.(1921-1923)Gga>Aga	p.G641R		NM_024654.4	NP_078930	Q5SY16	NOL9_HUMAN	nucleolar protein 9	641					maturation of 5.8S rRNA (GO:0000460)	membrane (GO:0016020)|nucleolus (GO:0005730)	ATP binding (GO:0005524)|polynucleotide 5'-hydroxyl-kinase activity (GO:0051731)|RNA binding (GO:0003723)	p.G641R(1)		central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|skin(2)|urinary_tract(1)	19	Ovarian(185;0.0212)|all_lung(157;0.154)	all_cancers(23;2.46e-35)|all_epithelial(116;1.41e-22)|all_lung(118;7.59e-07)|Lung NSC(185;4.28e-06)|Colorectal(325;4.52e-05)|Breast(487;0.000353)|Renal(390;0.0007)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0443)		Colorectal(212;1.47e-07)|COAD - Colon adenocarcinoma(227;1.47e-05)|Kidney(185;5.27e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000971)|BRCA - Breast invasive adenocarcinoma(365;0.00113)|STAD - Stomach adenocarcinoma(132;0.0017)|READ - Rectum adenocarcinoma(331;0.0649)		GCAATAGCTCCAACGAGCAGA	0.567																																						uc001ans.2																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(1921-1923)GGA>AGA		nucleolar protein 9							139.0	124.0	129.0					1																	6586794		2203	4300	6503	SO:0001583	missense	79707				maturation of 5.8S rRNA	nucleolus	ATP binding|polynucleotide 5'-hydroxyl-kinase activity|RNA binding	g.chr1:6586794C>T	AK091284	CCDS80.1	1p36.31	2012-05-02			ENSG00000162408	ENSG00000162408			26265	protein-coding gene	gene with protein product	"""polynucleotide 5'-kinase"""					21063389	Standard	NM_024654		Approved	FLJ23323, NET6, Grc3	uc001ans.3	Q5SY16	OTTHUMG00000000904	ENST00000377705.5:c.1921G>A	1.37:g.6586794C>T	ENSP00000366934:p.Gly641Arg					NOL9_uc010nzs.1_RNA	p.G641R	NM_024654	NP_078930	Q5SY16	NOL9_HUMAN		Colorectal(212;1.47e-07)|COAD - Colon adenocarcinoma(227;1.47e-05)|Kidney(185;5.27e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000971)|BRCA - Breast invasive adenocarcinoma(365;0.00113)|STAD - Stomach adenocarcinoma(132;0.0017)|READ - Rectum adenocarcinoma(331;0.0649)	11	1940	-	Ovarian(185;0.0212)|all_lung(157;0.154)	all_cancers(23;2.46e-35)|all_epithelial(116;1.41e-22)|all_lung(118;7.59e-07)|Lung NSC(185;4.28e-06)|Colorectal(325;4.52e-05)|Breast(487;0.000353)|Renal(390;0.0007)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0443)	641					Q2NL84|Q4VBY3|Q6P472|Q7L4D6|Q96EE0|Q9H5L4	Missense_Mutation	SNP	ENST00000377705.5	37	c.1921G>A	CCDS80.1	.	.	.	.	.	.	.	.	.	.	C	18.72	3.683492	0.68157	.	.	ENSG00000162408	ENST00000377705	T	0.57107	0.42	5.24	5.24	0.73138	Pre-mRNA cleavage complex II Clp1 (1);	0.000000	0.85682	D	0.000000	T	0.74207	0.3686	M	0.87900	2.915	0.34963	D	0.752346	D	0.89917	1.0	D	0.97110	1.0	D	0.83795	0.0233	10	0.87932	D	0	-23.9364	11.422	0.49987	0.1803:0.8197:0.0:0.0	.	641	Q5SY16	NOL9_HUMAN	R	641	ENSP00000366934:G641R	ENSP00000366934:G641R	G	-	1	0	NOL9	6509381	0.998000	0.40836	0.101000	0.21167	0.015000	0.08874	5.902000	0.69869	2.451000	0.82905	0.563000	0.77884	GGA		PASS	0.567	NOL9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000002625.1	NM_024654		44	105	44	105	---	---	---	---
ERRFI1	54206	broad.mit.edu	37	1	8073377	8073377	+	Missense_Mutation	SNP	C	C	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr1:8073377C>A	ENST00000377482.5	-	4	1505	c.1282G>T	c.(1282-1284)Gct>Tct	p.A428S	ERRFI1_ENST00000474874.1_Intron	NM_018948.3	NP_061821.1	Q9UJM3	ERRFI_HUMAN	ERBB receptor feedback inhibitor 1	428					lung alveolus development (GO:0048286)|lung epithelium development (GO:0060428)|lung vasculature development (GO:0060426)|negative regulation of epidermal growth factor-activated receptor activity (GO:0007175)|negative regulation of protein autophosphorylation (GO:0031953)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of keratinocyte differentiation (GO:0045616)|response to stress (GO:0006950)|skin morphogenesis (GO:0043589)	cytoplasm (GO:0005737)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|nucleus (GO:0005634)	protein kinase binding (GO:0019901)|Rho GTPase activator activity (GO:0005100)	p.A428S(1)		breast(1)|endometrium(2)|large_intestine(3)|liver(3)|lung(3)|ovary(1)|prostate(1)|skin(2)	16	Ovarian(185;0.06)|all_lung(157;0.151)	all_epithelial(116;1.76e-16)|all_lung(118;3.66e-05)|Lung NSC(185;0.000163)|Renal(390;0.000469)|Colorectal(325;0.0033)|Breast(348;0.0044)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.11)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;2.33e-70)|GBM - Glioblastoma multiforme(8;8.05e-37)|Colorectal(212;6.23e-08)|COAD - Colon adenocarcinoma(227;6.9e-06)|Kidney(185;4.89e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|STAD - Stomach adenocarcinoma(132;0.000985)|READ - Rectum adenocarcinoma(331;0.0642)		CCGCAGTCAGCAGGTAATGGC	0.433																																						uc001aoz.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1282-1284)GCT>TCT		mitogen-inducible gene 6 protein							152.0	142.0	145.0					1																	8073377		2203	4300	6503	SO:0001583	missense	54206				lung alveolus development|lung epithelium development|lung vasculature development|negative regulation of epidermal growth factor receptor activity|negative regulation of protein autophosphorylation|regulation of keratinocyte differentiation|response to stress|skin morphogenesis	cytoplasm|extrinsic to internal side of plasma membrane|nucleus	protein kinase binding|Rho GTPase activator activity	g.chr1:8073377C>A	BC025337	CCDS94.1	1p36.23	2008-02-05			ENSG00000116285	ENSG00000116285			18185	protein-coding gene	gene with protein product		608069				10749885, 2780291, 12226756, 11003669	Standard	NM_018948		Approved	MIG-6, GENE-33, RALT	uc001aoz.3	Q9UJM3	OTTHUMG00000001221	ENST00000377482.5:c.1282G>T	1.37:g.8073377C>A	ENSP00000366702:p.Ala428Ser						p.A428S	NM_018948	NP_061821	Q9UJM3	ERRFI_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;2.33e-70)|GBM - Glioblastoma multiforme(8;8.05e-37)|Colorectal(212;6.23e-08)|COAD - Colon adenocarcinoma(227;6.9e-06)|Kidney(185;4.89e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|STAD - Stomach adenocarcinoma(132;0.000985)|READ - Rectum adenocarcinoma(331;0.0642)	4	1531	-	Ovarian(185;0.06)|all_lung(157;0.151)	all_epithelial(116;1.76e-16)|all_lung(118;3.66e-05)|Lung NSC(185;0.000163)|Renal(390;0.000469)|Colorectal(325;0.0033)|Breast(348;0.0044)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.11)	428					B2RDX9|Q9NTG9|Q9UD05	Missense_Mutation	SNP	ENST00000377482.5	37	c.1282G>T	CCDS94.1	.	.	.	.	.	.	.	.	.	.	C	14.60	2.583647	0.46006	.	.	ENSG00000116285	ENST00000377482	T	0.14144	2.53	5.9	1.99	0.26369	.	0.431580	0.21919	N	0.067197	T	0.08582	0.0213	N	0.22421	0.69	0.38781	D	0.954775	B	0.13594	0.008	B	0.08055	0.003	T	0.20505	-1.0273	10	0.35671	T	0.21	-6.9827	8.7967	0.34883	0.0:0.648:0.0:0.352	.	428	Q9UJM3	ERRFI_HUMAN	S	428	ENSP00000366702:A428S	ENSP00000366702:A428S	A	-	1	0	ERRFI1	7995964	0.665000	0.27466	0.009000	0.14445	0.322000	0.28314	0.906000	0.28517	0.416000	0.25844	0.650000	0.86243	GCT		PASS	0.433	ERRFI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000003617.1	NM_018948		28	79	28	79	---	---	---	---
SLC45A1	50651	broad.mit.edu	37	1	8384421	8384421	+	Missense_Mutation	SNP	G	G	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr1:8384421G>T	ENST00000471889.1	+	2	417	c.32G>T	c.(31-33)gGa>gTa	p.G11V	SLC45A1_ENST00000377479.2_Missense_Mutation_p.G45V|SLC45A1_ENST00000289877.8_Missense_Mutation_p.G11V			Q9Y2W3	S45A1_HUMAN	solute carrier family 45, member 1	11					carbohydrate transport (GO:0008643)	integral component of membrane (GO:0016021)	symporter activity (GO:0015293)	p.G11V(1)		central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|liver(1)|lung(12)|ovary(2)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(2)	33	Ovarian(185;0.0661)|all_lung(157;0.127)	all_epithelial(116;1.22e-15)|all_lung(118;0.000147)|Lung NSC(185;0.000251)|Renal(390;0.000469)|Colorectal(325;0.00578)|Breast(348;0.00686)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.11)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;3.95e-66)|GBM - Glioblastoma multiforme(8;5.93e-33)|Colorectal(212;2.86e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|Kidney(185;5.33e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000513)|KIRC - Kidney renal clear cell carcinoma(229;0.000979)|STAD - Stomach adenocarcinoma(132;0.00199)|READ - Rectum adenocarcinoma(331;0.0649)		ACCCCGCCGGGAGATGCCCTC	0.677																																						uc001apb.2																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(2)|pancreas(1)|skin(1)	4						c.(31-33)GGA>GTA		DNB5							43.0	51.0	48.0					1																	8384421		2202	4297	6499	SO:0001583	missense	50651				carbohydrate transport	integral to membrane	symporter activity	g.chr1:8384421G>T	AF118274	CCDS30577.1	1p36.23	2014-01-28	2005-10-04	2005-10-04	ENSG00000162426	ENSG00000162426		"""Solute carriers"""	17939	protein-coding gene	gene with protein product	"""H+/sugar symporter"""	605763	"""deleted in neuroblastoma 5"""	DNB5		10729226	Standard	XM_005263467		Approved		uc001apb.3	Q9Y2W3	OTTHUMG00000000503	ENST00000471889.1:c.32G>T	1.37:g.8384421G>T	ENSP00000418096:p.Gly11Val						p.G11V	NM_001080397	NP_001073866	Q9Y2W3	S45A1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;3.95e-66)|GBM - Glioblastoma multiforme(8;5.93e-33)|Colorectal(212;2.86e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|Kidney(185;5.33e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000513)|KIRC - Kidney renal clear cell carcinoma(229;0.000979)|STAD - Stomach adenocarcinoma(132;0.00199)|READ - Rectum adenocarcinoma(331;0.0649)	1	32	+	Ovarian(185;0.0661)|all_lung(157;0.127)	all_epithelial(116;1.22e-15)|all_lung(118;0.000147)|Lung NSC(185;0.000251)|Renal(390;0.000469)|Colorectal(325;0.00578)|Breast(348;0.00686)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.11)	11					Q5VY46|Q5VY49	Missense_Mutation	SNP	ENST00000471889.1	37	c.32G>T	CCDS30577.1	.	.	.	.	.	.	.	.	.	.	G	8.879	0.951189	0.18431	.	.	ENSG00000162426	ENST00000471889;ENST00000377479;ENST00000289877	T;T;T	0.20200	2.14;2.09;2.14	4.32	2.23	0.28157	.	0.435213	0.25671	N	0.029062	T	0.12732	0.0309	N	0.24115	0.695	0.52501	D	0.999953	P	0.35077	0.483	B	0.25140	0.058	T	0.13818	-1.0495	10	0.72032	D	0.01	-6.4023	13.1345	0.59402	0.0:0.4586:0.5414:0.0	.	11	Q9Y2W3	S45A1_HUMAN	V	11;45;11	ENSP00000418096:G11V;ENSP00000366699:G45V;ENSP00000289877:G11V	ENSP00000289877:G11V	G	+	2	0	SLC45A1	8307008	1.000000	0.71417	1.000000	0.80357	0.210000	0.24377	3.138000	0.50570	0.924000	0.37069	0.591000	0.81541	GGA		PASS	0.677	SLC45A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000001245.5			23	70	23	70	---	---	---	---
FBXO44	93611	broad.mit.edu	37	1	11721303	11721303	+	Silent	SNP	C	C	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr1:11721303C>T	ENST00000251547.5	+	6	823	c.741C>T	c.(739-741)agC>agT	p.S247S	FBXO44_ENST00000376762.4_Missense_Mutation_p.H206Y|FBXO44_ENST00000376770.1_Silent_p.S247S|FBXO44_ENST00000251546.4_Missense_Mutation_p.H206Y|FBXO44_ENST00000376768.1_Missense_Mutation_p.H238Y|FBXO6_ENST00000376753.4_5'Flank|FBXO44_ENST00000376760.1_Missense_Mutation_p.H206Y	NM_033182.5	NP_149438.2	Q9H4M3	FBX44_HUMAN	F-box protein 44	247	FBA. {ECO:0000255|PROSITE- ProRule:PRU00482}.					SCF ubiquitin ligase complex (GO:0019005)		p.S247S(1)		kidney(1)|large_intestine(1)|lung(3)|ovary(1)|pancreas(1)|prostate(1)	8	Ovarian(185;0.249)	Lung NSC(185;4.15e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.41e-06)|COAD - Colon adenocarcinoma(227;0.000255)|BRCA - Breast invasive adenocarcinoma(304;0.0003)|Kidney(185;0.000758)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00727)|READ - Rectum adenocarcinoma(331;0.0649)		CCAACAGCAGCATCACCATCG	0.637																																						uc001asm.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(739-741)AGC>AGT		F-box protein 44 isoform 1							75.0	79.0	77.0					1																	11721303		2203	4300	6503	SO:0001819	synonymous_variant	93611				protein catabolic process	SCF ubiquitin ligase complex	protein binding	g.chr1:11721303C>T	AY040878	CCDS131.1, CCDS132.1	1p36.21	2008-03-26			ENSG00000132879	ENSG00000132879		"""F-boxes /  ""other"""""	24847	protein-coding gene	gene with protein product		609111				12383498	Standard	XM_005263535		Approved	FBX30, FBG3, MGC14140, Fbxo6a, Fbx44	uc001asm.3	Q9H4M3	OTTHUMG00000002071	ENST00000251547.5:c.741C>T	1.37:g.11721303C>T						FBXO44_uc001ask.2_Missense_Mutation_p.H206Y|FBXO44_uc001asl.2_Silent_p.S247S|FBXO44_uc001asn.2_Missense_Mutation_p.H206Y|FBXO44_uc010oar.1_Missense_Mutation_p.H238Y|FBXO44_uc010oas.1_Silent_p.S107S|FBXO6_uc001aso.2_5'Flank	p.S247S	NM_033182	NP_149438	Q9H4M3	FBX44_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.41e-06)|COAD - Colon adenocarcinoma(227;0.000255)|BRCA - Breast invasive adenocarcinoma(304;0.0003)|Kidney(185;0.000758)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00727)|READ - Rectum adenocarcinoma(331;0.0649)	6	867	+	Ovarian(185;0.249)	Lung NSC(185;4.15e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)	247			FBA.		B3KNZ2|B7Z743|Q5TGX2|Q5TGX4|Q5TGX5|Q68DJ9|Q8WWY2	Silent	SNP	ENST00000251547.5	37	c.741C>T	CCDS132.1	.	.	.	.	.	.	.	.	.	.	C	15.48	2.845496	0.51164	.	.	ENSG00000132879	ENST00000251546;ENST00000376768;ENST00000376762;ENST00000376760	T;T;T;T	0.37058	1.29;1.22;1.29;1.29	4.82	4.82	0.62117	.	0.376195	0.22752	N	0.056078	T	0.27313	0.0670	.	.	.	0.80722	D	1	P;P	0.47191	0.826;0.891	B;B	0.37422	0.127;0.249	T	0.09773	-1.0659	9	0.72032	D	0.01	-13.8609	8.5511	0.33451	0.0:0.8882:0.0:0.1118	.	238;206	B7Z1P2;Q9H4M3-2	.;.	Y	206;238;206;206	ENSP00000251546:H206Y;ENSP00000365959:H238Y;ENSP00000365953:H206Y;ENSP00000365951:H206Y	ENSP00000251546:H206Y	H	+	1	0	FBXO44	11643890	0.996000	0.38824	1.000000	0.80357	0.990000	0.78478	1.320000	0.33666	2.228000	0.72767	0.561000	0.74099	CAT		PASS	0.637	FBXO44-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005761.1	NM_183412		27	60	27	60	---	---	---	---
KIAA2013	90231	broad.mit.edu	37	1	11983154	11983154	+	Missense_Mutation	SNP	C	C	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr1:11983154C>A	ENST00000376572.3	-	2	1611	c.1426G>T	c.(1426-1428)Gtg>Ttg	p.V476L	KIAA2013_ENST00000376576.3_Missense_Mutation_p.V476L	NM_138346.2	NP_612355.1	Q8IYS2	K2013_HUMAN	KIAA2013	476						integral component of membrane (GO:0016021)|membrane (GO:0016020)		p.V476L(1)		endometrium(1)|lung(3)|ovary(1)|prostate(1)|skin(1)	7	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00149)|all_lung(284;0.00189)|Breast(348;0.00586)|Colorectal(325;0.0062)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0556)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;4.88e-06)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|Kidney(185;0.000722)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		TTGTGCAGCACGTCGGGGTCG	0.612																																						uc001atk.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1426-1428)GTG>TTG		hypothetical protein LOC90231 precursor							44.0	41.0	42.0					1																	11983154		2202	4299	6501	SO:0001583	missense	90231					integral to membrane		g.chr1:11983154C>A	AB095933	CCDS141.1	1p36.22	2011-02-09			ENSG00000116685	ENSG00000116685			28513	protein-coding gene	gene with protein product						12477932	Standard	NM_138346		Approved	MGC33867, RP5-1077B9.1	uc001atk.3	Q8IYS2	OTTHUMG00000002391	ENST00000376572.3:c.1426G>T	1.37:g.11983154C>A	ENSP00000365756:p.Val476Leu					KIAA2013_uc001atl.1_Missense_Mutation_p.V476L	p.V476L	NM_138346	NP_612355	Q8IYS2	K2013_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;4.88e-06)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|Kidney(185;0.000722)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)	2	1620	-	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00149)|all_lung(284;0.00189)|Breast(348;0.00586)|Colorectal(325;0.0062)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0556)|Ovarian(437;0.0731)	476			Extracellular (Potential).		Q5JXC1|Q8IVF8|Q8NDI7|Q9BSY1	Missense_Mutation	SNP	ENST00000376572.3	37	c.1426G>T	CCDS141.1	.	.	.	.	.	.	.	.	.	.	C	18.80	3.700496	0.68501	.	.	ENSG00000116685	ENST00000376572;ENST00000376576	.	.	.	6.06	5.14	0.70334	.	0.000000	0.85682	D	0.000000	T	0.72137	0.3423	L	0.58101	1.795	0.58432	D	0.999993	P;P	0.51653	0.743;0.947	B;P	0.56514	0.394;0.8	T	0.73515	-0.3958	9	0.48119	T	0.1	2.5972	16.4761	0.84132	0.0:0.8689:0.1311:0.0	.	476;476	Q8IYS2-2;Q8IYS2	.;K2013_HUMAN	L	476	.	ENSP00000365756:V476L	V	-	1	0	KIAA2013	11905741	1.000000	0.71417	0.978000	0.43139	0.866000	0.49608	7.487000	0.81328	1.556000	0.49512	-0.181000	0.13052	GTG		PASS	0.612	KIAA2013-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006858.1	NM_138346		13	48	13	48	---	---	---	---
PRAMEF1	65121	broad.mit.edu	37	1	12854133	12854133	+	Silent	SNP	C	C	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr1:12854133C>A	ENST00000332296.7	+	3	460	c.357C>A	c.(355-357)gcC>gcA	p.A119A	PRAMEF1_ENST00000400814.3_5'Flank	NM_023013.2	NP_075389.1	O95521	PRAM1_HUMAN	PRAME family member 1	119					negative regulation of apoptotic process (GO:0043066)|negative regulation of cell differentiation (GO:0045596)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)			p.A119A(2)		cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	35	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		GGCCTGGAGCCTGGGCCCTGT	0.537																																						uc001auj.1																			2	Substitution - coding silent(2)		lung(2)		0						c.(355-357)GCC>GCA		PRAME family member 1							172.0	189.0	183.0					1																	12854133		2203	4300	6503	SO:0001819	synonymous_variant	65121							g.chr1:12854133C>A	AL049686	CCDS148.1	1p36.21	2013-01-17			ENSG00000116721	ENSG00000116721		"""-"""	28840	protein-coding gene	gene with protein product							Standard	NM_023013		Approved		uc001auj.2	O95521	OTTHUMG00000001928	ENST00000332296.7:c.357C>A	1.37:g.12854133C>A							p.A119A	NM_023013	NP_075389	O95521	PRAM1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)	3	460	+	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)	119					Q9UQP2	Silent	SNP	ENST00000332296.7	37	c.357C>A	CCDS148.1																																																																																				PASS	0.537	PRAMEF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005458.1	NM_023013		80	304	80	304	---	---	---	---
PRAMEF7	441871	broad.mit.edu	37	1	12979866	12979866	+	Missense_Mutation	SNP	T	T	C			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr1:12979866T>C	ENST00000361079.2	+	4	1141	c.1058T>C	c.(1057-1059)cTg>cCg	p.L353P	RNU6-1072P_ENST00000384703.1_RNA			Q5VXH5	PRAM7_HUMAN	PRAME family member 7	353					negative regulation of apoptotic process (GO:0043066)|negative regulation of cell differentiation (GO:0045596)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)			p.L353P(1)		endometrium(2)|kidney(5)|large_intestine(3)|lung(4)|prostate(2)|upper_aerodigestive_tract(2)	18	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		CTGCAGACCCTGGACTTAGAG	0.592																																						uc001aup.2																			1	Substitution - Missense(1)		lung(1)		0						c.(1057-1059)CTG>CCG		PRAME family member 8							18.0	16.0	16.0					1																	12979866		1507	3185	4692	SO:0001583	missense	391002							g.chr1:12979866T>C		CCDS30593.1	1p36.21	2013-01-17			ENSG00000204510	ENSG00000204510		"""-"""	28415	protein-coding gene	gene with protein product							Standard	NM_001012277		Approved			Q5VXH5	OTTHUMG00000001982	ENST00000361079.2:c.1058T>C	1.37:g.12979866T>C	ENSP00000354371:p.Leu353Pro						p.L353P	NM_001012276	NP_001012276	Q5VWM4	PRAM8_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)	4	1141	+	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)	353			LRR 2.		B9EIP0	Missense_Mutation	SNP	ENST00000361079.2	37	c.1058T>C	CCDS30593.1	.	.	.	.	.	.	.	.	.	.	.	13.13	2.146102	0.37923	.	.	ENSG00000204510	ENST00000361079;ENST00000330881	T;T	0.04234	3.67;3.67	1.68	1.68	0.24146	.	0.179451	0.36555	N	0.002528	T	0.20536	0.0494	M	0.89214	3.015	0.41284	D	0.986938	D	0.89917	1.0	D	0.97110	1.0	T	0.01178	-1.1427	10	0.66056	D	0.02	.	7.3952	0.26931	0.0:0.0:0.0:1.0	.	353	Q5VXH5	PRAM7_HUMAN	P	353	ENSP00000354371:L353P;ENSP00000328915:L353P	ENSP00000328915:L353P	L	+	2	0	PRAMEF7	12902453	0.763000	0.28462	0.018000	0.16275	0.102000	0.19082	2.788000	0.47806	1.023000	0.39654	0.254000	0.18369	CTG		PASS	0.592	PRAMEF7-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001012277		12	72	12	72	---	---	---	---
CLCNKA	1187	broad.mit.edu	37	1	16353885	16353885	+	Missense_Mutation	SNP	G	G	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr1:16353885G>A	ENST00000331433.4	+	8	755	c.736G>A	c.(736-738)Ggg>Agg	p.G246R	CLCNKA_ENST00000375692.1_Missense_Mutation_p.G246R|CLCNKA_ENST00000439316.2_Missense_Mutation_p.G203R|CLCNKA_ENST00000420078.1_Missense_Mutation_p.G246R|CLCNKA_ENST00000464764.1_3'UTR			P51800	CLCKA_HUMAN	chloride channel, voltage-sensitive Ka	246					excretion (GO:0007588)|ion transmembrane transport (GO:0034220)|regulation of anion transport (GO:0044070)|transmembrane transport (GO:0055085)|transport (GO:0006810)	chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	adenyl nucleotide binding (GO:0030554)|metal ion binding (GO:0046872)|voltage-gated chloride channel activity (GO:0005247)	p.G246R(1)		breast(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|skin(1)	19		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;8.04e-08)|COAD - Colon adenocarcinoma(227;5.46e-06)|BRCA - Breast invasive adenocarcinoma(304;9.02e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.00655)|READ - Rectum adenocarcinoma(331;0.0649)	Niflumic Acid(DB04552)	GGCCACCTGCGGGGCCTTCAT	0.657																																						uc001axu.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(736-738)GGG>AGG		chloride channel Ka isoform 1	Niflumic Acid(DB04552)						70.0	77.0	74.0					1																	16353885		2203	4300	6503	SO:0001583	missense	1187				excretion	chloride channel complex|integral to plasma membrane	voltage-gated chloride channel activity	g.chr1:16353885G>A		CCDS167.1, CCDS41269.1, CCDS57973.1	1p36	2012-09-26	2012-02-23		ENSG00000186510	ENSG00000186510		"""Ion channels / Chloride channels : Voltage-sensitive"""	2026	protein-coding gene	gene with protein product		602024	"""chloride channel Ka"""			8544406	Standard	NM_004070		Approved	hClC-Ka	uc001axu.3	P51800	OTTHUMG00000009529	ENST00000331433.4:c.736G>A	1.37:g.16353885G>A	ENSP00000332771:p.Gly246Arg					CLCNKA_uc001axt.2_RNA|CLCNKA_uc001axv.2_Missense_Mutation_p.G246R|CLCNKA_uc010obw.1_Missense_Mutation_p.G203R|CLCNKB_uc001axw.3_Intron|CLCNKA_uc010obx.1_5'Flank|CLCNKA_uc010oby.1_5'Flank	p.G246R	NM_004070	NP_004061	P51800	CLCKA_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;8.04e-08)|COAD - Colon adenocarcinoma(227;5.46e-06)|BRCA - Breast invasive adenocarcinoma(304;9.02e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.00655)|READ - Rectum adenocarcinoma(331;0.0649)	8	816	+		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)	246			Helical; (Potential).		B4DPD3|E7EPH6|Q5T5P8|Q5T5Q4|Q7Z6D1|Q86VT1	Missense_Mutation	SNP	ENST00000331433.4	37	c.736G>A	CCDS167.1	.	.	.	.	.	.	.	.	.	.	G	17.82	3.483654	0.63962	.	.	ENSG00000186510	ENST00000375692;ENST00000420078;ENST00000439316;ENST00000331433	D;D;D;D	0.94417	-3.42;-3.42;-3.42;-3.42	3.02	3.02	0.34903	Chloride channel, core (2);	0.111393	0.64402	D	0.000009	D	0.97018	0.9026	M	0.88512	2.96	0.58432	D	0.999998	D;D;D	0.76494	0.998;0.999;0.999	D;D;D	0.70487	0.924;0.969;0.969	D	0.97165	0.9840	10	0.87932	D	0	.	11.3027	0.49316	0.0:0.1856:0.8144:0.0	.	203;246;246	E7EPH6;Q5T5Q4;P51800	.;.;CLCKA_HUMAN	R	246;246;203;246	ENSP00000364844:G246R;ENSP00000410353:G246R;ENSP00000414445:G203R;ENSP00000332771:G246R	ENSP00000332771:G246R	G	+	1	0	CLCNKA	16226472	0.512000	0.26186	1.000000	0.80357	0.807000	0.45602	0.779000	0.26746	1.674000	0.50907	0.313000	0.20887	GGG		PASS	0.657	CLCNKA-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000026326.1			46	97	46	97	---	---	---	---
CROCC	9696	broad.mit.edu	37	1	17266410	17266410	+	Missense_Mutation	SNP	G	G	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr1:17266410G>T	ENST00000375541.5	+	13	1699	c.1630G>T	c.(1630-1632)Gca>Tca	p.A544S	CROCC_ENST00000467938.1_3'UTR	NM_014675.3	NP_055490.3			ciliary rootlet coiled-coil, rootletin									p.A544S(1)		breast(3)|central_nervous_system(2)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(1)|lung(20)|ovary(3)|prostate(9)|skin(3)|urinary_tract(1)	62		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000174)|all_lung(284;0.000234)|Renal(390;0.000518)|Ovarian(437;0.00669)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.63e-06)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(64;0.000163)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.181)		GCGCTATGAGGCAAGCCAGGA	0.657																																						uc001azt.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|breast(2)|central_nervous_system(1)	5						c.(1630-1632)GCA>TCA		ciliary rootlet coiled-coil							56.0	52.0	53.0					1																	17266410		2203	4299	6502	SO:0001583	missense	9696				cell cycle|cell projection organization|centrosome organization|protein localization	actin cytoskeleton|centriole|ciliary rootlet|plasma membrane	kinesin binding|structural molecule activity	g.chr1:17266410G>T	AB007914	CCDS30616.1	1p36.13	2010-06-04	2009-03-04	2009-03-04	ENSG00000058453	ENSG00000058453			21299	protein-coding gene	gene with protein product	"""rootletin, ciliary rootlet protein"""	615776				12427867, 17971504	Standard	XM_006711056		Approved	rootletin, ROLT	uc001azt.2	Q5TZA2	OTTHUMG00000002200	ENST00000375541.5:c.1630G>T	1.37:g.17266410G>T	ENSP00000364691:p.Ala544Ser					CROCC_uc009voy.1_Missense_Mutation_p.A247S|CROCC_uc009voz.1_Missense_Mutation_p.A307S|CROCC_uc001azu.2_5'UTR	p.A544S	NM_014675	NP_055490	Q5TZA2	CROCC_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.63e-06)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(64;0.000163)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.181)	13	1699	+		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000174)|all_lung(284;0.000234)|Renal(390;0.000518)|Ovarian(437;0.00669)|Myeloproliferative disorder(586;0.0255)	544						Missense_Mutation	SNP	ENST00000375541.5	37	c.1630G>T	CCDS30616.1	.	.	.	.	.	.	.	.	.	.	G	12.05	1.822677	0.32237	.	.	ENSG00000058453	ENST00000375541;ENST00000445545	T	0.09817	2.94	4.89	4.89	0.63831	.	.	.	.	.	T	0.18299	0.0439	L	0.34521	1.04	0.40871	D	0.983915	P;P;D	0.71674	0.663;0.663;0.998	B;B;D	0.64042	0.192;0.192;0.921	T	0.03969	-1.0988	9	0.09084	T	0.74	.	16.3533	0.83225	0.0:0.0:1.0:0.0	.	407;407;544	A1L0S8;A1L0S9;Q5TZA2	.;.;CROCC_HUMAN	S	544;425	ENSP00000364691:A544S	ENSP00000364691:A544S	A	+	1	0	CROCC	17138997	1.000000	0.71417	0.999000	0.59377	0.594000	0.36715	5.114000	0.64648	2.651000	0.90000	0.561000	0.74099	GCA		PASS	0.657	CROCC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006249.2	NM_014675		6	59	6	59	---	---	---	---
CROCC	9696	broad.mit.edu	37	1	17296397	17296397	+	Missense_Mutation	SNP	G	G	C			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr1:17296397G>C	ENST00000375541.5	+	33	5488	c.5419G>C	c.(5419-5421)Gag>Cag	p.E1807Q		NM_014675.3	NP_055490.3			ciliary rootlet coiled-coil, rootletin									p.E1807Q(1)		breast(3)|central_nervous_system(2)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(1)|lung(20)|ovary(3)|prostate(9)|skin(3)|urinary_tract(1)	62		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000174)|all_lung(284;0.000234)|Renal(390;0.000518)|Ovarian(437;0.00669)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.63e-06)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(64;0.000163)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.181)		GCAGCGGGTGGAGGCCGAGGG	0.662																																						uc001azt.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|breast(2)|central_nervous_system(1)	5						c.(5419-5421)GAG>CAG		ciliary rootlet coiled-coil							52.0	47.0	49.0					1																	17296397		2202	4300	6502	SO:0001583	missense	9696				cell cycle|cell projection organization|centrosome organization|protein localization	actin cytoskeleton|centriole|ciliary rootlet|plasma membrane	kinesin binding|structural molecule activity	g.chr1:17296397G>C	AB007914	CCDS30616.1	1p36.13	2010-06-04	2009-03-04	2009-03-04	ENSG00000058453	ENSG00000058453			21299	protein-coding gene	gene with protein product	"""rootletin, ciliary rootlet protein"""	615776				12427867, 17971504	Standard	XM_006711056		Approved	rootletin, ROLT	uc001azt.2	Q5TZA2	OTTHUMG00000002200	ENST00000375541.5:c.5419G>C	1.37:g.17296397G>C	ENSP00000364691:p.Glu1807Gln					CROCC_uc001azu.2_Missense_Mutation_p.E1110Q|CROCC_uc001azv.2_Missense_Mutation_p.E143Q	p.E1807Q	NM_014675	NP_055490	Q5TZA2	CROCC_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.63e-06)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(64;0.000163)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.181)	33	5488	+		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000174)|all_lung(284;0.000234)|Renal(390;0.000518)|Ovarian(437;0.00669)|Myeloproliferative disorder(586;0.0255)	1807						Missense_Mutation	SNP	ENST00000375541.5	37	c.5419G>C	CCDS30616.1	.	.	.	.	.	.	.	.	.	.	G	20.9	4.074139	0.76415	.	.	ENSG00000058453	ENST00000375541;ENST00000445545	T	0.13538	2.58	4.97	4.97	0.65823	.	.	.	.	.	T	0.36580	0.0972	M	0.73962	2.25	0.45129	D	0.998146	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.79108	0.992;0.992;0.992	T	0.04191	-1.0970	9	0.28530	T	0.3	.	16.0965	0.81129	0.0:0.0:1.0:0.0	.	1688;1110;1807	B1AKD8;Q5TZA2-2;Q5TZA2	.;.;CROCC_HUMAN	Q	1807;1688	ENSP00000364691:E1807Q	ENSP00000364691:E1807Q	E	+	1	0	CROCC	17168984	1.000000	0.71417	0.587000	0.28692	0.599000	0.36880	8.202000	0.89737	2.484000	0.83849	0.462000	0.41574	GAG		PASS	0.662	CROCC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006249.2	NM_014675		10	32	10	32	---	---	---	---
RCC2	55920	broad.mit.edu	37	1	17739593	17739593	+	Missense_Mutation	SNP	C	C	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr1:17739593C>A	ENST00000375436.4	-	10	1476	c.1289G>T	c.(1288-1290)tGg>tTg	p.W430L	AC004824.1_ENST00000583469.1_RNA|RCC2_ENST00000375433.3_Missense_Mutation_p.W430L	NM_018715.3	NP_061185.1	Q9P258	RCC2_HUMAN	regulator of chromosome condensation 2	430					chromosome passenger complex localization to kinetochore (GO:0072356)|endosome organization (GO:0007032)|focal adhesion assembly (GO:0048041)|integrin-mediated signaling pathway (GO:0007229)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of GTPase activity (GO:0034260)|negative regulation of substrate adhesion-dependent cell spreading (GO:1900025)|positive regulation of attachment of spindle microtubules to kinetochore (GO:0051987)|positive regulation of G2/M transition of mitotic cell cycle (GO:0010971)|regulation of cell migration (GO:0030334)	chromosome, centromeric core domain (GO:0034506)|cytosol (GO:0005829)|microtubule (GO:0005874)|midbody (GO:0030496)|mitotic spindle midzone (GO:1990023)|nucleus (GO:0005634)	microtubule binding (GO:0008017)|poly(A) RNA binding (GO:0044822)|Rac GTPase binding (GO:0048365)	p.W430L(1)|p.W430*(1)		breast(2)|endometrium(1)|kidney(3)|large_intestine(7)|lung(4)	17		Colorectal(325;0.000147)|Breast(348;0.00122)|Renal(390;0.00145)|all_lung(284;0.0054)|Lung NSC(340;0.00566)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00492)|BRCA - Breast invasive adenocarcinoma(304;7.69e-06)|COAD - Colon adenocarcinoma(227;1.19e-05)|Kidney(64;0.000189)|KIRC - Kidney renal clear cell carcinoma(64;0.00273)|STAD - Stomach adenocarcinoma(196;0.0135)|READ - Rectum adenocarcinoma(331;0.0656)|Lung(427;0.19)		CCGGATTCTCCAGCCGCAGAG	0.567																																						uc001bal.2																			2	Substitution - Missense(1)|Substitution - Nonsense(1)		lung(1)|kidney(1)		0						c.(1288-1290)TGG>TTG		regulator of chromosome condensation 2							44.0	42.0	43.0					1																	17739593		2203	4300	6503	SO:0001583	missense	55920				cell division|mitotic prometaphase	chromosome, centromeric region|cytosol|microtubule|nucleolus|spindle		g.chr1:17739593C>A		CCDS181.1	1p36.13	2010-05-05			ENSG00000179051	ENSG00000179051			30297	protein-coding gene	gene with protein product		609587				10819331, 12919680	Standard	NM_018715		Approved	TD-60	uc001bal.3	Q9P258	OTTHUMG00000002513	ENST00000375436.4:c.1289G>T	1.37:g.17739593C>A	ENSP00000364585:p.Trp430Leu					RCC2_uc001bam.2_Missense_Mutation_p.W430L	p.W430L	NM_001136204	NP_001129676	Q9P258	RCC2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00492)|BRCA - Breast invasive adenocarcinoma(304;7.69e-06)|COAD - Colon adenocarcinoma(227;1.19e-05)|Kidney(64;0.000189)|KIRC - Kidney renal clear cell carcinoma(64;0.00273)|STAD - Stomach adenocarcinoma(196;0.0135)|READ - Rectum adenocarcinoma(331;0.0656)|Lung(427;0.19)	9	1336	-		Colorectal(325;0.000147)|Breast(348;0.00122)|Renal(390;0.00145)|all_lung(284;0.0054)|Lung NSC(340;0.00566)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)	430			RCC1 6.		Q8IVL9|Q9BSN6|Q9NPV8	Missense_Mutation	SNP	ENST00000375436.4	37	c.1289G>T	CCDS181.1	.	.	.	.	.	.	.	.	.	.	C	33	5.226995	0.95173	.	.	ENSG00000179051	ENST00000375436;ENST00000375433	T;T	0.38401	1.14;1.14	5.24	5.24	0.73138	Regulator of chromosome condensation/beta-lactamase-inhibitor protein II (2);	0.000000	0.85682	D	0.000000	T	0.47210	0.1433	L	0.31120	0.905	0.80722	D	1	D	0.60160	0.987	D	0.67725	0.953	T	0.24333	-1.0163	10	0.29301	T	0.29	-22.7397	17.7539	0.88444	0.0:1.0:0.0:0.0	.	430	Q9P258	RCC2_HUMAN	L	430	ENSP00000364585:W430L;ENSP00000364582:W430L	ENSP00000364582:W430L	W	-	2	0	RCC2	17612180	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.772000	0.85439	2.615000	0.88500	0.655000	0.94253	TGG		PASS	0.567	RCC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007144.1	NM_018715		13	32	13	32	---	---	---	---
TMCO4	255104	broad.mit.edu	37	1	20067393	20067393	+	Nonsense_Mutation	SNP	C	C	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr1:20067393C>A	ENST00000294543.6	-	11	1160	c.919G>T	c.(919-921)Gag>Tag	p.E307*	TMCO4_ENST00000375122.2_Nonsense_Mutation_p.E267*|TMCO4_ENST00000489814.1_5'Flank|TMCO4_ENST00000375127.1_Nonsense_Mutation_p.E307*	NM_181719.4	NP_859070.3	Q5TGY1	TMCO4_HUMAN	transmembrane and coiled-coil domains 4	307						integral component of membrane (GO:0016021)		p.E307*(1)		biliary_tract(1)|breast(2)|endometrium(2)|kidney(1)|lung(11)|skin(1)|upper_aerodigestive_tract(1)	19		Colorectal(325;0.000147)|Renal(390;0.000469)|all_lung(284;0.00519)|Breast(348;0.00526)|Lung NSC(340;0.00544)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00708)|COAD - Colon adenocarcinoma(152;2.28e-05)|BRCA - Breast invasive adenocarcinoma(304;5.8e-05)|Kidney(64;0.000367)|GBM - Glioblastoma multiforme(114;0.000377)|KIRC - Kidney renal clear cell carcinoma(64;0.00459)|STAD - Stomach adenocarcinoma(196;0.0072)|READ - Rectum adenocarcinoma(331;0.0862)|Lung(427;0.223)		CAGTACTGCTCACGGCTGTGG	0.632																																						uc001bcn.2																			1	Substitution - Nonsense(1)		lung(1)		0						c.(919-921)GAG>TAG		transmembrane and coiled-coil domains 4							54.0	47.0	50.0					1																	20067393		2203	4300	6503	SO:0001587	stop_gained	255104					integral to membrane		g.chr1:20067393C>A		CCDS198.1	1p36.13	2008-02-05			ENSG00000162542	ENSG00000162542			27393	protein-coding gene	gene with protein product							Standard	NM_181719		Approved	DKFZp686C23231	uc001bcn.3	Q5TGY1	OTTHUMG00000002697	ENST00000294543.6:c.919G>T	1.37:g.20067393C>A	ENSP00000294543:p.Glu307*					TMCO4_uc001bcm.2_Intron|TMCO4_uc001bco.1_Nonsense_Mutation_p.E307*|TMCO4_uc001bcp.1_Nonsense_Mutation_p.E267*	p.E307*	NM_181719	NP_859070	Q5TGY1	TMCO4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00708)|COAD - Colon adenocarcinoma(152;2.28e-05)|BRCA - Breast invasive adenocarcinoma(304;5.8e-05)|Kidney(64;0.000367)|GBM - Glioblastoma multiforme(114;0.000377)|KIRC - Kidney renal clear cell carcinoma(64;0.00459)|STAD - Stomach adenocarcinoma(196;0.0072)|READ - Rectum adenocarcinoma(331;0.0862)|Lung(427;0.223)	11	1161	-		Colorectal(325;0.000147)|Renal(390;0.000469)|all_lung(284;0.00519)|Breast(348;0.00526)|Lung NSC(340;0.00544)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)	307					Q5TGY2|Q6MZN5|Q7Z6K6|Q9UQP4|Q9Y3K1	Nonsense_Mutation	SNP	ENST00000294543.6	37	c.919G>T	CCDS198.1	.	.	.	.	.	.	.	.	.	.	C	39	7.767262	0.98477	.	.	ENSG00000162542	ENST00000294543;ENST00000375127;ENST00000375122	.	.	.	5.35	5.35	0.76521	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	-8.6427	16.5542	0.84481	0.0:1.0:0.0:0.0	.	.	.	.	X	307;307;267	.	ENSP00000294543:E307X	E	-	1	0	TMCO4	19939980	1.000000	0.71417	0.952000	0.39060	0.847000	0.48162	7.204000	0.77872	2.506000	0.84524	0.655000	0.94253	GAG		PASS	0.632	TMCO4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007658.1	NM_181719		3	47	3	47	---	---	---	---
KIF17	57576	broad.mit.edu	37	1	21042056	21042056	+	Missense_Mutation	SNP	C	C	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr1:21042056C>A	ENST00000247986.2	-	2	618	c.308G>T	c.(307-309)gGc>gTc	p.G103V	KIF17_ENST00000400463.3_Missense_Mutation_p.G103V|KIF17_ENST00000375044.1_Missense_Mutation_p.G3V			Q9P2E2	KIF17_HUMAN	kinesin family member 17	103	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				ATP catabolic process (GO:0006200)|cell projection organization (GO:0030030)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|neurogenesis (GO:0022008)|protein complex localization (GO:0031503)|protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|intraciliary transport particle B (GO:0030992)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|plus-end-directed microtubule motor activity (GO:0008574)	p.G103V(1)		NS(2)|endometrium(3)|kidney(3)|large_intestine(9)|liver(1)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	50		all_lung(284;2.99e-05)|Lung NSC(340;3.26e-05)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|COAD - Colon adenocarcinoma(152;1.43e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000168)|Kidney(64;0.000221)|GBM - Glioblastoma multiforme(114;0.000651)|KIRC - Kidney renal clear cell carcinoma(64;0.0031)|STAD - Stomach adenocarcinoma(196;0.00336)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.209)		ATCCGGCAGGCCCTGCATGGT	0.657																																						uc001bdr.3																			1	Substitution - Missense(1)		lung(1)	ovary(3)|skin(1)	4						c.(307-309)GGC>GTC		kinesin family member 17 isoform a							95.0	80.0	85.0					1																	21042056		2203	4300	6503	SO:0001583	missense	57576				microtubule-based movement|protein transport	cytoplasm|microtubule	ATP binding	g.chr1:21042056C>A	AB037826	CCDS213.1, CCDS44079.1, CCDS72722.1	1p36.13	2012-08-01			ENSG00000117245	ENSG00000117245		"""Kinesins"""	19167	protein-coding gene	gene with protein product	"""kinesin-like protein KIF17"", ""KIF3-related motor protein"", ""KIF17 variant protein"""	605037				10846156	Standard	XR_241202		Approved	KIAA1405, KIF3X, KIF17B, OSM-3, KLP-2	uc001bdr.4	Q9P2E2	OTTHUMG00000002863	ENST00000247986.2:c.308G>T	1.37:g.21042056C>A	ENSP00000247986:p.Gly103Val					KIF17_uc001bds.3_Missense_Mutation_p.G103V	p.G103V	NM_020816	NP_065867	Q9P2E2	KIF17_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|COAD - Colon adenocarcinoma(152;1.43e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000168)|Kidney(64;0.000221)|GBM - Glioblastoma multiforme(114;0.000651)|KIRC - Kidney renal clear cell carcinoma(64;0.0031)|STAD - Stomach adenocarcinoma(196;0.00336)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.209)	2	426	-		all_lung(284;2.99e-05)|Lung NSC(340;3.26e-05)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)	103			Kinesin-motor.		A2A3Q7|A2A3Q8|O95077|Q53YS6|Q5VWA9|Q6GSA8|Q8N411	Missense_Mutation	SNP	ENST00000247986.2	37	c.308G>T	CCDS213.1	.	.	.	.	.	.	.	.	.	.	C	22.2	4.254138	0.80135	.	.	ENSG00000117245	ENST00000375044;ENST00000400463;ENST00000247986	D;D;D	0.90069	-2.61;-1.93;-1.93	4.75	3.83	0.44106	Kinesin, motor domain (5);	0.000000	0.32935	U	0.005465	D	0.96821	0.8962	H	0.99487	4.59	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.97139	0.9823	10	0.87932	D	0	.	12.0543	0.53524	0.0:0.9142:0.0:0.0858	.	103;103	Q9P2E2-3;Q9P2E2	.;KIF17_HUMAN	V	3;103;103	ENSP00000364184:G3V;ENSP00000383311:G103V;ENSP00000247986:G103V	ENSP00000247986:G103V	G	-	2	0	KIF17	20914643	1.000000	0.71417	1.000000	0.80357	0.900000	0.52787	5.434000	0.66526	1.205000	0.43262	0.655000	0.94253	GGC		PASS	0.657	KIF17-009	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000276995.1	NM_020816		26	67	26	67	---	---	---	---
EIF4G3	8672	broad.mit.edu	37	1	21144032	21144032	+	Splice_Site	SNP	C	C	G			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr1:21144032C>G	ENST00000264211.8	-	28	4395		c.e28-1		EIF4G3_ENST00000536266.1_Splice_Site|EIF4G3_ENST00000400422.1_Splice_Site|EIF4G3_ENST00000537738.1_Splice_Site|EIF4G3_ENST00000602326.1_Splice_Site|EIF4G3_ENST00000374935.3_Splice_Site|EIF4G3_ENST00000374937.3_Splice_Site	NM_003760.4	NP_003751.2	O43432	IF4G3_HUMAN	eukaryotic translation initiation factor 4 gamma, 3						cytokine-mediated signaling pathway (GO:0019221)|positive regulation of meiosis I (GO:0060903)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of translation (GO:0045727)|regulation of translational initiation (GO:0006446)|spermatogenesis (GO:0007283)|viral process (GO:0016032)	cytosol (GO:0005829)|eukaryotic translation initiation factor 4F complex (GO:0016281)	poly(A) RNA binding (GO:0044822)|RNA cap binding (GO:0000339)|translation factor activity, nucleic acid binding (GO:0008135)|translation initiation factor activity (GO:0003743)	p.?(2)		endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(18)|lung(20)|ovary(1)|prostate(4)|skin(3)|stomach(1)|urinary_tract(3)	70		all_lung(284;2.61e-06)|Lung NSC(340;2.81e-06)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00149)|Ovarian(437;0.00338)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.023)|COAD - Colon adenocarcinoma(152;5.42e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000327)|GBM - Glioblastoma multiforme(114;0.000696)|Kidney(64;0.0018)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(64;0.0185)|READ - Rectum adenocarcinoma(331;0.124)|Lung(427;0.191)		AGTCCAACTTCTGAAACATAA	0.363																																						uc001bec.2																			2	Unknown(2)		lung(2)	skin(1)	1						c.e29-1		eukaryotic translation initiation factor 4							47.0	47.0	47.0					1																	21144032		2203	4300	6503	SO:0001630	splice_region_variant	8672				interspecies interaction between organisms|regulation of translational initiation|RNA metabolic process	eukaryotic translation initiation factor 4F complex	protein binding|RNA cap binding|translation initiation factor activity	g.chr1:21144032C>G	AF012072	CCDS214.1, CCDS55580.1, CCDS59192.1, CCDS72723.1	1p36.12	2008-02-05			ENSG00000075151	ENSG00000075151			3298	protein-coding gene	gene with protein product		603929				9418880	Standard	NM_001198801		Approved	eIF4GII	uc001bef.3	O43432	OTTHUMG00000002624	ENST00000264211.8:c.4201-1G>C	1.37:g.21144032C>G						EIF4G3_uc010odi.1_Splice_Site_p.K1005_splice|EIF4G3_uc010odj.1_Splice_Site_p.K1400_splice|EIF4G3_uc009vpz.2_Splice_Site_p.K1121_splice|EIF4G3_uc001bed.2_Splice_Site_p.K1401_splice|EIF4G3_uc001bef.2_Splice_Site_p.K1437_splice|EIF4G3_uc001bee.2_Splice_Site_p.K1407_splice	p.K1401_splice	NM_003760	NP_003751	O43432	IF4G3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.023)|COAD - Colon adenocarcinoma(152;5.42e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000327)|GBM - Glioblastoma multiforme(114;0.000696)|Kidney(64;0.0018)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(64;0.0185)|READ - Rectum adenocarcinoma(331;0.124)|Lung(427;0.191)	29	4457	-		all_lung(284;2.61e-06)|Lung NSC(340;2.81e-06)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00149)|Ovarian(437;0.00338)|Myeloproliferative disorder(586;0.0256)						B9EGQ7|Q15597|Q504Z1|Q5SWC3|Q8NEN1	Splice_Site	SNP	ENST00000264211.8	37	c.4201_splice	CCDS214.1	.	.	.	.	.	.	.	.	.	.	C	22.0	4.227477	0.79576	.	.	ENSG00000075151	ENST00000264211;ENST00000400415;ENST00000400422;ENST00000374935;ENST00000537738;ENST00000374937;ENST00000536266	.	.	.	5.4	5.4	0.78164	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.236	0.93861	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	EIF4G3	21016619	1.000000	0.71417	1.000000	0.80357	0.871000	0.50021	7.006000	0.76329	2.546000	0.85860	0.558000	0.71614	.		PASS	0.363	EIF4G3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000007467.3	NM_003760	Intron	18	54	18	54	---	---	---	---
CELA3B	23436	broad.mit.edu	37	1	22307651	22307651	+	Silent	SNP	G	G	C			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr1:22307651G>C	ENST00000337107.6	+	4	367	c.348G>C	c.(346-348)tcG>tcC	p.S116S	RN7SL421P_ENST00000582599.1_RNA	NM_007352.2	NP_031378.1	P08861	CEL3B_HUMAN	chymotrypsin-like elastase family, member 3B	116	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				cholesterol metabolic process (GO:0008203)|proteolysis (GO:0006508)		peptidase activity (GO:0008233)|serine-type endopeptidase activity (GO:0004252)	p.S116S(1)		breast(2)|kidney(2)|large_intestine(1)|lung(1)|ovary(1)|urinary_tract(1)	8						GGAACCGCTCGTGTGTGGCCT	0.592																																						uc001bfk.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(346-348)TCG>TCC		elastase 3B, pancreatic preproprotein							119.0	106.0	110.0					1																	22307651		2203	4300	6503	SO:0001819	synonymous_variant	23436				cholesterol metabolic process|proteolysis	extracellular region	serine-type endopeptidase activity	g.chr1:22307651G>C	M18692	CCDS219.1	1p36.12	2009-05-05	2009-05-05	2009-05-05	ENSG00000219073	ENSG00000219073	3.4.21.70		15945	protein-coding gene	gene with protein product	"""proteinase E"", ""elastase 1"", ""cholesterol-binding pancreatic protease"", ""pancreatic endopeptidase E"""		"""elastase 3B, pancreatic"""	ELA3B		2826474, 2460440	Standard	NM_007352		Approved	CBPP	uc001bfk.3	P08861	OTTHUMG00000002758	ENST00000337107.6:c.348G>C	1.37:g.22307651G>C						CELA3B_uc009vqf.2_Intron	p.S116S	NM_007352	NP_031378	P08861	CEL3B_HUMAN			4	463	+			116			Peptidase S1.		B2RE44|P11423|Q5VU28|Q5VU29|Q5VU30	Silent	SNP	ENST00000337107.6	37	c.348G>C	CCDS219.1																																																																																				PASS	0.592	CELA3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007797.1	NM_007352		28	91	28	91	---	---	---	---
EPHA8	2046	broad.mit.edu	37	1	22921766	22921766	+	Silent	SNP	G	G	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr1:22921766G>T	ENST00000166244.3	+	8	1719	c.1647G>T	c.(1645-1647)acG>acT	p.T549T		NM_020526.3	NP_065387.1	P29322	EPHA8_HUMAN	EPH receptor A8	549					axon guidance (GO:0007411)|cell adhesion (GO:0007155)|ephrin receptor signaling pathway (GO:0048013)|neuron projection development (GO:0031175)|neuron remodeling (GO:0016322)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|protein autophosphorylation (GO:0046777)|regulation of cell adhesion (GO:0030155)|regulation of cell adhesion mediated by integrin (GO:0033628)|substrate-dependent cell migration (GO:0006929)	endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)	ATP binding (GO:0005524)|GPI-linked ephrin receptor activity (GO:0005004)	p.T549T(1)		breast(3)|central_nervous_system(5)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(6)|lung(22)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	61		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;7.29e-27)|Colorectal(126;1.61e-07)|COAD - Colon adenocarcinoma(152;1.14e-05)|GBM - Glioblastoma multiforme(114;1.74e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000554)|KIRC - Kidney renal clear cell carcinoma(1967;0.00272)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		TCTGCCTGACGCTCATCACGG	0.647																																						uc001bfx.1																			1	Substitution - coding silent(1)		lung(1)	central_nervous_system(5)|breast(3)|lung(2)|large_intestine(1)|stomach(1)|skin(1)	13						c.(1645-1647)ACG>ACT		ephrin receptor EphA8 isoform 1 precursor							86.0	71.0	76.0					1																	22921766		2203	4300	6503	SO:0001819	synonymous_variant	2046					integral to plasma membrane	ATP binding|ephrin receptor activity	g.chr1:22921766G>T	BC038796	CCDS225.1, CCDS30626.1	1p36.12	2013-02-11	2004-10-28		ENSG00000070886	ENSG00000070886	2.7.10.1	"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3391	protein-coding gene	gene with protein product		176945	"""EphA8"""	EEK		1648701	Standard	NM_001006943		Approved	Hek3	uc001bfx.1	P29322	OTTHUMG00000002892	ENST00000166244.3:c.1647G>T	1.37:g.22921766G>T							p.T549T	NM_020526	NP_065387	P29322	EPHA8_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;7.29e-27)|Colorectal(126;1.61e-07)|COAD - Colon adenocarcinoma(152;1.14e-05)|GBM - Glioblastoma multiforme(114;1.74e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000554)|KIRC - Kidney renal clear cell carcinoma(1967;0.00272)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)	8	1772	+		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)	549			Helical; (Potential).		Q6IN80|Q8IUX6|Q9NUA9|Q9P269	Silent	SNP	ENST00000166244.3	37	c.1647G>T	CCDS225.1																																																																																				PASS	0.647	EPHA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008085.1	NM_020526		8	33	8	33	---	---	---	---
LUZP1	7798	broad.mit.edu	37	1	23420350	23420350	+	Silent	SNP	G	G	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr1:23420350G>A	ENST00000302291.4	-	4	1206	c.405C>T	c.(403-405)acC>acT	p.T135T	LUZP1_ENST00000418342.1_Silent_p.T135T|LUZP1_ENST00000314174.5_Silent_p.T135T|LUZP1_ENST00000374623.3_Silent_p.T135T			Q86V48	LUZP1_HUMAN	leucine zipper protein 1	135					artery development (GO:0060840)|neural fold bending (GO:0021503)|ventricular septum development (GO:0003281)	membrane (GO:0016020)|nucleus (GO:0005634)		p.T135T(1)		NS(1)|breast(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(12)|upper_aerodigestive_tract(2)	31		Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Ovarian(437;0.00373)|Breast(348;0.00815)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;4.88e-27)|Colorectal(126;8.36e-08)|COAD - Colon adenocarcinoma(152;4.31e-06)|GBM - Glioblastoma multiforme(114;8.64e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00112)|KIRC - Kidney renal clear cell carcinoma(1967;0.00176)|STAD - Stomach adenocarcinoma(196;0.0146)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.0967)|LUSC - Lung squamous cell carcinoma(448;0.199)		GACACAGCTGGGTACAGTCAT	0.463																																						uc001bgk.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(403-405)ACC>ACT		leucine zipper protein 1							63.0	68.0	66.0					1																	23420350		2203	4300	6503	SO:0001819	synonymous_variant	7798					nucleus		g.chr1:23420350G>A	BC051733	CCDS30628.1	1p36	2008-02-05			ENSG00000169641	ENSG00000169641			14985	protein-coding gene	gene with protein product		601422				8812416	Standard	NM_033631		Approved	LUZP	uc010odv.1	Q86V48	OTTHUMG00000003227	ENST00000302291.4:c.405C>T	1.37:g.23420350G>A						LUZP1_uc010odv.1_Silent_p.T135T|LUZP1_uc001bgl.2_Silent_p.T135T|LUZP1_uc001bgm.1_Silent_p.T135T	p.T135T	NM_033631	NP_361013	Q86V48	LUZP1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;4.88e-27)|Colorectal(126;8.36e-08)|COAD - Colon adenocarcinoma(152;4.31e-06)|GBM - Glioblastoma multiforme(114;8.64e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00112)|KIRC - Kidney renal clear cell carcinoma(1967;0.00176)|STAD - Stomach adenocarcinoma(196;0.0146)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.0967)|LUSC - Lung squamous cell carcinoma(448;0.199)	4	789	-		Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Ovarian(437;0.00373)|Breast(348;0.00815)|Myeloproliferative disorder(586;0.0255)	135			Potential.		Q5TH93|Q8N4X3|Q8TEH1	Silent	SNP	ENST00000302291.4	37	c.405C>T	CCDS30628.1																																																																																				PASS	0.463	LUZP1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008900.3	NM_033631		29	82	29	82	---	---	---	---
HNRNPR	10236	broad.mit.edu	37	1	23637164	23637164	+	Missense_Mutation	SNP	C	C	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr1:23637164C>T	ENST00000374612.1	-	11	1808	c.1685G>A	c.(1684-1686)cGg>cAg	p.R562Q	HNRNPR_ENST00000302271.6_Missense_Mutation_p.R562Q|HNRNPR_ENST00000427764.2_Missense_Mutation_p.R524Q|HNRNPR_ENST00000606561.1_Missense_Mutation_p.R423Q|HNRNPR_ENST00000478691.1_Missense_Mutation_p.R464Q|HNRNPR_ENST00000374616.3_Missense_Mutation_p.R565Q|HNRNPR_ENST00000476660.1_5'UTR|HNRNPR_ENST00000426846.2_Missense_Mutation_p.R402Q	NM_001102398.1|NM_005826.3	NP_001095868.1|NP_005817.1	O43390	HNRPR_HUMAN	heterogeneous nuclear ribonucleoprotein R	562	RNA-binding RGG-box.				gene expression (GO:0010467)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|spliceosomal complex (GO:0005681)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)	p.R562Q(2)		endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Breast(348;0.00394)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;6.83e-27)|Colorectal(126;6.01e-08)|COAD - Colon adenocarcinoma(152;3.32e-06)|GBM - Glioblastoma multiforme(114;6.69e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00101)|KIRC - Kidney renal clear cell carcinoma(1967;0.00357)|STAD - Stomach adenocarcinoma(196;0.0131)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0875)|LUSC - Lung squamous cell carcinoma(448;0.19)		ACGATTGCCCCGAGATCCACG	0.587																																						uc001bgr.3																			2	Substitution - Missense(2)		lung(2)	upper_aerodigestive_tract(1)|skin(1)	2						c.(1684-1686)CGG>CAG		heterogeneous nuclear ribonucleoprotein R							134.0	122.0	126.0					1																	23637164		2203	4300	6503	SO:0001583	missense	10236					catalytic step 2 spliceosome|cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	nucleotide binding|protein binding|RNA binding	g.chr1:23637164C>T	AF000364	CCDS232.1, CCDS44085.1, CCDS60020.1, CCDS72726.1, CCDS72727.1	1p36.12	2013-02-12		2007-08-16	ENSG00000125944	ENSG00000125944		"""RNA binding motif (RRM) containing"""	5047	protein-coding gene	gene with protein product		607201		HNRPR		9421497	Standard	XM_005245711		Approved	hnRNP-R	uc001bgp.4	O43390	OTTHUMG00000003224	ENST00000374612.1:c.1685G>A	1.37:g.23637164C>T	ENSP00000363741:p.Arg562Gln					HNRNPR_uc001bgo.2_Missense_Mutation_p.R172Q|HNRNPR_uc001bgp.3_Missense_Mutation_p.R565Q|HNRNPR_uc009vqk.2_Missense_Mutation_p.R464Q|HNRNPR_uc001bgs.3_Missense_Mutation_p.R461Q|HNRNPR_uc010odw.1_Missense_Mutation_p.R524Q|HNRNPR_uc010odx.1_Missense_Mutation_p.R402Q|HNRNPR_uc009vql.2_Missense_Mutation_p.R423Q	p.R562Q	NM_005826	NP_005817	O43390	HNRPR_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;6.83e-27)|Colorectal(126;6.01e-08)|COAD - Colon adenocarcinoma(152;3.32e-06)|GBM - Glioblastoma multiforme(114;6.69e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00101)|KIRC - Kidney renal clear cell carcinoma(1967;0.00357)|STAD - Stomach adenocarcinoma(196;0.0131)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0875)|LUSC - Lung squamous cell carcinoma(448;0.19)	11	1844	-		Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Breast(348;0.00394)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)	562			RNA-binding RGG-box.		Q2L7G6|Q5TEH1|Q9BV64|S4R3J4	Missense_Mutation	SNP	ENST00000374612.1	37	c.1685G>A	CCDS232.1	.	.	.	.	.	.	.	.	.	.	C	14.03	2.412759	0.42817	.	.	ENSG00000125944	ENST00000374616;ENST00000374612;ENST00000302271;ENST00000427764;ENST00000426846	T;T;T;T;T	0.21031	2.03;2.04;2.04;2.36;2.89	5.21	4.3	0.51218	.	0.052589	0.64402	D	0.000001	T	0.27967	0.0689	M	0.83012	2.62	0.50632	D	0.999887	B;B;B;B;B;B	0.22909	0.046;0.046;0.016;0.046;0.046;0.077	B;B;B;B;B;B	0.11329	0.005;0.003;0.005;0.005;0.003;0.006	T	0.07404	-1.0774	10	0.38643	T	0.18	-2.8777	12.373	0.55265	0.0:0.9186:0.0:0.0814	.	402;524;423;542;562;565	E7ETM7;Q2L7G6;B4DT28;Q6MZS5;O43390;O43390-2	.;.;.;.;HNRPR_HUMAN;.	Q	565;562;562;524;402	ENSP00000363745:R565Q;ENSP00000363741:R562Q;ENSP00000304405:R562Q;ENSP00000392799:R524Q;ENSP00000415042:R402Q	ENSP00000304405:R562Q	R	-	2	0	HNRNPR	23509751	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.677000	0.61634	1.429000	0.47314	0.650000	0.86243	CGG		PASS	0.587	HNRNPR-003	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000008889.1	NM_005826		35	136	35	136	---	---	---	---
SEPN1	57190	broad.mit.edu	37	1	26142208	26142208	+	Nonstop_Mutation	SNP	A	A	G			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr1:26142208A>G	ENST00000374315.1	+	12	1708	c.1670A>G	c.(1669-1671)tAg>tGg	p.*557W	SEPN1_ENST00000361547.2_Nonstop_Mutation_p.*591W|SEPN1_ENST00000494537.1_3'UTR|SEPN1_ENST00000354177.4_Nonstop_Mutation_p.*557W|RP1-317E23.3_ENST00000442055.1_RNA|RP1-317E23.6_ENST00000527604.1_Intron	NM_206926.1	NP_996809.1	Q9NZV5	SELN_HUMAN	selenoprotein N, 1	0						endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)	calcium ion binding (GO:0005509)	p.*591W(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	19		Colorectal(325;3.46e-05)|Lung NSC(340;0.00038)|all_lung(284;0.00051)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0505)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0421)|OV - Ovarian serous cystadenocarcinoma(117;1.26e-25)|Colorectal(126;3.01e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000751)|BRCA - Breast invasive adenocarcinoma(304;0.00099)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.0143)|READ - Rectum adenocarcinoma(331;0.0649)		CTCCAGCCCTAGAGTGCCTGG	0.632																																						uc010oer.1																			1	Nonstop extension(1)		lung(1)	ovary(2)	2						c.(1771-1773)TAG>TGG		selenoprotein N, 1 isoform 1 precursor							76.0	78.0	77.0					1																	26142208		2013	4182	6195	SO:0001578	stop_lost	57190					endoplasmic reticulum membrane|extracellular region	protein binding	g.chr1:26142208A>G	AF166125	CCDS41282.1, CCDS41283.1	1p36.13	2014-09-17	2004-02-13		ENSG00000162430	ENSG00000162430		"""EF-hand domain containing"""	15999	protein-coding gene	gene with protein product		606210	"""rigid spine muscular dystrophy 1"""	RSMD1, MDRS1		10608886	Standard	NM_020451		Approved	selN, RSS	uc021ojl.1	Q9NZV5	OTTHUMG00000007375	ENST00000374315.1:c.1670A>G	1.37:g.26142208A>G	ENSP00000363434:p.*557Trpext*35					SEPN1_uc010oes.1_Nonstop_Mutation_p.*557W	p.*591W	NM_020451	NP_065184	Q9NZV5	SELN_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0421)|OV - Ovarian serous cystadenocarcinoma(117;1.26e-25)|Colorectal(126;3.01e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000751)|BRCA - Breast invasive adenocarcinoma(304;0.00099)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.0143)|READ - Rectum adenocarcinoma(331;0.0649)	16	1827	+		Colorectal(325;3.46e-05)|Lung NSC(340;0.00038)|all_lung(284;0.00051)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0505)	591					A6NJG8|A8MQ64|Q6PI70|Q969F6|Q9NUI6	Nonstop_Mutation	SNP	ENST00000374315.1	37	c.1772A>G	CCDS41283.1	.	.	.	.	.	.	.	.	.	.	A	11.66	1.703734	0.30232	.	.	ENSG00000162430	ENST00000361547;ENST00000354177;ENST00000374315	.	.	.	4.76	4.76	0.60689	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.2376	0.65937	1.0:0.0:0.0:0.0	.	.	.	.	W	591;557;557	.	.	X	+	2	0	SEPN1	26014795	1.000000	0.71417	0.975000	0.42487	0.397000	0.30659	5.248000	0.65421	1.912000	0.55364	0.459000	0.35465	TAG		PASS	0.632	SEPN1-002	KNOWN	basic|appris_candidate_longest|CCDS|seleno	protein_coding	protein_coding	OTTHUMT00000019315.2	NM_020451		37	94	37	94	---	---	---	---
PAQR7	164091	broad.mit.edu	37	1	26189347	26189347	+	Silent	SNP	G	G	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr1:26189347G>A	ENST00000374296.3	-	2	1650	c.984C>T	c.(982-984)ctC>ctT	p.L328L	RP1-125I3.2_ENST00000455431.1_RNA	NM_178422.5	NP_848509.1	Q86WK9	MPRA_HUMAN	progestin and adipoQ receptor family member VII	328					multicellular organismal development (GO:0007275)|oogenesis (GO:0048477)|response to steroid hormone (GO:0048545)|steroid hormone mediated signaling pathway (GO:0043401)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	steroid binding (GO:0005496)|steroid hormone receptor activity (GO:0003707)	p.L328L(1)		breast(3)|endometrium(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	9		Colorectal(325;3.46e-05)|Lung NSC(340;0.00038)|all_lung(284;0.00051)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0505)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;2.16e-25)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000724)|BRCA - Breast invasive adenocarcinoma(304;0.000965)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.0136)|READ - Rectum adenocarcinoma(331;0.0649)		GGAATGCAGTGAGGATGCTGC	0.577																																					Esophageal Squamous(111;1206 1556 18433 19151 38418)	uc001bkx.2																			1	Substitution - coding silent(1)		lung(1)	breast(3)	3						c.(982-984)CTC>CTT		progestin and adipoQ receptor family member VII							79.0	81.0	80.0					1																	26189347		2203	4300	6503	SO:0001819	synonymous_variant	164091				cell differentiation|multicellular organismal development|oogenesis	integral to membrane|plasma membrane	receptor activity|steroid binding	g.chr1:26189347G>A		CCDS267.1	1p35.3	2012-08-10			ENSG00000182749	ENSG00000182749			23146	protein-coding gene	gene with protein product	"""membrane progestin receptor alpha"""	607779					Standard	NM_178422		Approved	mSR, MPRA	uc001bkx.3	Q86WK9	OTTHUMG00000007373	ENST00000374296.3:c.984C>T	1.37:g.26189347G>A							p.L328L	NM_178422	NP_848509	Q86WK9	MPRA_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;2.16e-25)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000724)|BRCA - Breast invasive adenocarcinoma(304;0.000965)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.0136)|READ - Rectum adenocarcinoma(331;0.0649)	2	1651	-		Colorectal(325;3.46e-05)|Lung NSC(340;0.00038)|all_lung(284;0.00051)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0505)	328			Helical; Name=7; (Potential).		A2A2D3|Q5XKF9|Q86VE4	Silent	SNP	ENST00000374296.3	37	c.984C>T	CCDS267.1																																																																																				PASS	0.577	PAQR7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019312.1	NM_178422		26	54	26	54	---	---	---	---
EXTL1	2134	broad.mit.edu	37	1	26349777	26349777	+	Missense_Mutation	SNP	C	C	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr1:26349777C>A	ENST00000374280.3	+	1	1507	c.640C>A	c.(640-642)Cag>Aag	p.Q214K	EXTL1_ENST00000484339.1_3'UTR	NM_004455.2	NP_004446.2	Q92935	EXTL1_HUMAN	exostosin-like glycosyltransferase 1	214					protein glycosylation (GO:0006486)|skeletal system development (GO:0001501)	integral component of membrane (GO:0016021)|intrinsic component of endoplasmic reticulum membrane (GO:0031227)	glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity (GO:0050508)	p.Q214K(1)		central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|stomach(1)|urinary_tract(1)	23		Colorectal(325;3.46e-05)|Lung NSC(340;6.18e-05)|all_lung(284;9.43e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;6.44e-26)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|BRCA - Breast invasive adenocarcinoma(304;0.000954)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00594)|READ - Rectum adenocarcinoma(331;0.0649)		GGCTCCTGGCCAGCTGCGGCA	0.697																																						uc001blf.2																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1						c.(640-642)CAG>AAG		exostoses-like 1							13.0	14.0	14.0					1																	26349777		2197	4296	6493	SO:0001583	missense	2134				skeletal system development	integral to membrane|intrinsic to endoplasmic reticulum membrane	glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|protein binding	g.chr1:26349777C>A	U67191	CCDS271.1	1p36.1	2013-03-01	2013-03-01		ENSG00000158008	ENSG00000158008	2.4.1.224	"""Exostosin glycosyltransferase family"""	3515	protein-coding gene	gene with protein product	"""glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N- acetylglucosaminyltransferase"", ""alpha-N-acetylglucosaminyltransferase II"", ""glucuronyl-N-acetylglucosaminylproteoglycan alpha-1,4-N- acetylglucosaminyltransferase"", ""exostosin-L"""	601738	"""exostoses (multiple)-like 1"""			9037597	Standard	NM_004455		Approved	EXTL, MGC70794	uc001blf.3	Q92935	OTTHUMG00000007509	ENST00000374280.3:c.640C>A	1.37:g.26349777C>A	ENSP00000363398:p.Gln214Lys						p.Q214K	NM_004455	NP_004446	Q92935	EXTL1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;6.44e-26)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|BRCA - Breast invasive adenocarcinoma(304;0.000954)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00594)|READ - Rectum adenocarcinoma(331;0.0649)	1	1507	+		Colorectal(325;3.46e-05)|Lung NSC(340;6.18e-05)|all_lung(284;9.43e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298)	214			Lumenal (Potential).		Q6GSC1	Missense_Mutation	SNP	ENST00000374280.3	37	c.640C>A	CCDS271.1	.	.	.	.	.	.	.	.	.	.	C	13.34	2.206887	0.39003	.	.	ENSG00000158008	ENST00000374280	D	0.95001	-3.58	5.38	3.46	0.39613	.	0.479433	0.24700	N	0.036320	D	0.88793	0.6533	L	0.46885	1.475	0.25420	N	0.988276	B	0.09022	0.002	B	0.11329	0.006	T	0.73232	-0.4048	10	0.15066	T	0.55	-2.4828	3.8486	0.08945	0.3948:0.4424:0.0:0.1627	.	214	Q92935	EXTL1_HUMAN	K	214	ENSP00000363398:Q214K	ENSP00000363398:Q214K	Q	+	1	0	EXTL1	26222364	0.029000	0.19370	1.000000	0.80357	0.997000	0.91878	2.506000	0.45433	0.784000	0.33661	0.655000	0.94253	CAG		PASS	0.697	EXTL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019749.1	NM_004455		7	24	7	24	---	---	---	---
SLC9A1	6548	broad.mit.edu	37	1	27434310	27434310	+	Missense_Mutation	SNP	T	T	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr1:27434310T>A	ENST00000263980.3	-	4	1686	c.1111A>T	c.(1111-1113)Atc>Ttc	p.I371F	SLC9A1_ENST00000374086.3_Missense_Mutation_p.I371F|SLC9A1_ENST00000545949.1_Missense_Mutation_p.I32F	NM_003047.4	NP_003038.2	P19634	SL9A1_HUMAN	solute carrier family 9, subfamily A (NHE1, cation proton antiporter 1), member 1	371					carbohydrate metabolic process (GO:0005975)|cardiac muscle cell differentiation (GO:0055007)|cell growth (GO:0016049)|cellular response to acidic pH (GO:0071468)|glycosaminoglycan metabolic process (GO:0030203)|hyaluronan catabolic process (GO:0030214)|hyaluronan metabolic process (GO:0030212)|hydrogen ion transmembrane transport (GO:1902600)|ion transport (GO:0006811)|negative regulation of apoptotic process (GO:0043066)|neuron death (GO:0070997)|positive regulation of action potential (GO:0045760)|positive regulation of cell growth (GO:0030307)|positive regulation of mitochondrial membrane permeability (GO:0035794)|protein oligomerization (GO:0051259)|regulation of intracellular pH (GO:0051453)|regulation of pH (GO:0006885)|regulation of sensory perception of pain (GO:0051930)|regulation of the force of heart contraction (GO:0002026)|response to acidic pH (GO:0010447)|response to drug (GO:0042493)|response to organic cyclic compound (GO:0014070)|small molecule metabolic process (GO:0044281)|sodium ion export (GO:0071436)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium-dependent protein binding (GO:0048306)|sodium:proton antiporter activity (GO:0015385)|solute:proton antiporter activity (GO:0015299)	p.I371F(1)		central_nervous_system(1)|cervix(3)|endometrium(3)|kidney(2)|large_intestine(4)|liver(1)|lung(7)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	27				UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;2.19e-50)|OV - Ovarian serous cystadenocarcinoma(117;1.8e-29)|Colorectal(126;7.61e-09)|COAD - Colon adenocarcinoma(152;9.32e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000521)|KIRC - Kidney renal clear cell carcinoma(1967;0.00079)|STAD - Stomach adenocarcinoma(196;0.00125)|READ - Rectum adenocarcinoma(331;0.046)	Amiloride(DB00594)	TTGTGGGAGATGTTGGCCTCC	0.597																																						uc001bnm.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.(1111-1113)ATC>TTC		solute carrier family 9, isoform A1	Amiloride(DB00594)						87.0	67.0	74.0					1																	27434310		2203	4296	6499	SO:0001583	missense	6548				regulation of pH	integral to membrane	sodium:hydrogen antiporter activity	g.chr1:27434310T>A	M81768	CCDS295.1	1p36.1-p35	2014-06-13	2012-03-22		ENSG00000090020	ENSG00000090020		"""Solute carriers"""	11071	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 143"""	107310	"""solute carrier family 9 (sodium/hydrogen exchanger), isoform 1 (antiporter, Na+/H+, amiloride sensitive)"", ""solute carrier family 9 (sodium/hydrogen exchanger), member 1"""	APNH, NHE1		8283968	Standard	NM_003047		Approved	PPP1R143	uc001bnm.4	P19634	OTTHUMG00000004271	ENST00000263980.3:c.1111A>T	1.37:g.27434310T>A	ENSP00000263980:p.Ile371Phe					SLC9A1_uc010ofk.1_Missense_Mutation_p.I32F|SLC9A1_uc001bnn.2_Missense_Mutation_p.I371F	p.I371F	NM_003047	NP_003038	P19634	SL9A1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;2.19e-50)|OV - Ovarian serous cystadenocarcinoma(117;1.8e-29)|Colorectal(126;7.61e-09)|COAD - Colon adenocarcinoma(152;9.32e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000521)|KIRC - Kidney renal clear cell carcinoma(1967;0.00079)|STAD - Stomach adenocarcinoma(196;0.00125)|READ - Rectum adenocarcinoma(331;0.046)	4	1737	-			371			Extracellular (Potential).		B1ALD6|D3DPL4|Q96EM2	Missense_Mutation	SNP	ENST00000263980.3	37	c.1111A>T	CCDS295.1	.	.	.	.	.	.	.	.	.	.	T	31	5.099795	0.94197	.	.	ENSG00000090020	ENST00000263980;ENST00000545949;ENST00000374086	T;T;T	0.18657	2.2;2.2;2.2	5.6	5.6	0.85130	Cation/H+ exchanger (1);	0.057614	0.85682	D	0.000000	T	0.50171	0.1600	M	0.82433	2.59	0.80722	D	1	D;D	0.69078	0.995;0.997	D;D	0.71656	0.933;0.974	T	0.57015	-0.7883	10	0.87932	D	0	.	15.773	0.78187	0.0:0.0:0.0:1.0	.	371;371	P19634-2;P19634	.;SL9A1_HUMAN	F	371;32;371	ENSP00000263980:I371F;ENSP00000445520:I32F;ENSP00000363199:I371F	ENSP00000263980:I371F	I	-	1	0	SLC9A1	27306897	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	6.189000	0.72051	2.131000	0.65755	0.374000	0.22700	ATC		PASS	0.597	SLC9A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012336.2	NM_003047		7	7	7	7	---	---	---	---
FCN3	8547	broad.mit.edu	37	1	27700903	27700903	+	Missense_Mutation	SNP	G	G	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr1:27700903G>T	ENST00000270879.4	-	2	136	c.131C>A	c.(130-132)cCc>cAc	p.P44H	FCN3_ENST00000354982.2_Missense_Mutation_p.P44H	NM_003665.2	NP_003656.2	O75636	FCN3_HUMAN	ficolin (collagen/fibrinogen domain containing) 3	44					complement activation (GO:0006956)|complement activation, lectin pathway (GO:0001867)|innate immune response (GO:0045087)	blood microparticle (GO:0072562)|collagen trimer (GO:0005581)|extracellular region (GO:0005576)	carbohydrate binding (GO:0030246)	p.P44H(1)		endometrium(2)|kidney(2)|large_intestine(1)|lung(1)|urinary_tract(1)	7		all_lung(284;1.6e-05)|Lung NSC(340;2.92e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.0175)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0415)|OV - Ovarian serous cystadenocarcinoma(117;1.42e-27)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00128)|KIRC - Kidney renal clear cell carcinoma(1967;0.00155)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0419)		GGGACAACTGGGCAGGAGGAC	0.622																																						uc001boa.2																			1	Substitution - Missense(1)		lung(1)		0						c.(130-132)CCC>CAC		ficolin 3 isoform 1 precursor							42.0	47.0	45.0					1																	27700903		2203	4300	6503	SO:0001583	missense	8547				complement activation, lectin pathway|signal transduction	collagen|extracellular space	receptor binding|sugar binding	g.chr1:27700903G>T	D88587	CCDS300.1, CCDS301.1	1p36.11	2014-09-17	2013-09-12		ENSG00000142748	ENSG00000142748		"""Fibrinogen C domain containing"""	3625	protein-coding gene	gene with protein product	"""Hakata antigen"""	604973	"""ficolin (collagen/fibrinogen domain-containing) 3 (Hakata antigen)"""			9694814, 10330454	Standard	NM_003665		Approved	FCNH, HAKA1	uc001boa.3	O75636	OTTHUMG00000005722	ENST00000270879.4:c.131C>A	1.37:g.27700903G>T	ENSP00000270879:p.Pro44His					FCN3_uc001bob.2_Missense_Mutation_p.P44H	p.P44H	NM_003665	NP_003656	O75636	FCN3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0415)|OV - Ovarian serous cystadenocarcinoma(117;1.42e-27)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00128)|KIRC - Kidney renal clear cell carcinoma(1967;0.00155)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0419)	2	137	-		all_lung(284;1.6e-05)|Lung NSC(340;2.92e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.0175)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)	44					Q6IBJ5|Q8WW86	Missense_Mutation	SNP	ENST00000270879.4	37	c.131C>A	CCDS300.1	.	.	.	.	.	.	.	.	.	.	G	15.83	2.948900	0.53186	.	.	ENSG00000142748	ENST00000270879;ENST00000354982	T;T	0.53640	0.65;0.61	3.97	1.94	0.25998	.	3.146430	0.01480	U	0.016633	T	0.60650	0.2285	M	0.68317	2.08	0.09310	N	0.999993	D;D	0.64830	0.98;0.994	P;P	0.58780	0.845;0.754	T	0.29701	-1.0003	10	0.62326	D	0.03	.	2.8144	0.05452	0.107:0.1766:0.5354:0.181	.	44;44	Q6UXM4;O75636	.;FCN3_HUMAN	H	44	ENSP00000270879:P44H;ENSP00000347077:P44H	ENSP00000270879:P44H	P	-	2	0	FCN3	27573490	0.892000	0.30473	0.989000	0.46669	0.997000	0.91878	0.752000	0.26362	0.863000	0.35553	0.563000	0.77884	CCC		PASS	0.622	FCN3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000015667.1			14	60	14	60	---	---	---	---
BAI2	576	broad.mit.edu	37	1	32196882	32196882	+	Missense_Mutation	SNP	C	C	A	rs550354944		TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr1:32196882C>A	ENST00000373658.3	-	29	4240	c.3899G>T	c.(3898-3900)gGg>gTg	p.G1300V	BAI2_ENST00000465256.1_5'UTR|BAI2_ENST00000398542.1_Missense_Mutation_p.G1200V|BAI2_ENST00000373655.2_Missense_Mutation_p.G1300V|BAI2_ENST00000398547.1_Missense_Mutation_p.G1233V|BAI2_ENST00000527361.1_Missense_Mutation_p.G1267V|BAI2_ENST00000440175.2_Missense_Mutation_p.G909V|BAI2_ENST00000257070.4_Missense_Mutation_p.G1267V|BAI2_ENST00000398556.3_Missense_Mutation_p.G1215V|BAI2_ENST00000398538.1_Missense_Mutation_p.G1288V	NM_001703.2	NP_001694.2	O60241	BAI2_HUMAN	brain-specific angiogenesis inhibitor 2	1300					G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of angiogenesis (GO:0016525)|neuropeptide signaling pathway (GO:0007218)|peripheral nervous system development (GO:0007422)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.G1300V(1)		breast(5)|central_nervous_system(2)|endometrium(1)|large_intestine(7)|liver(2)|lung(24)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	55		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0606)|all_neural(195;0.0837)|Breast(348;0.174)		STAD - Stomach adenocarcinoma(196;0.0557)		CAGGATATTCCCAGGCAGTGG	0.657																																						uc001btn.2																			1	Substitution - Missense(1)		lung(1)	lung(5)|breast(4)|ovary(2)|central_nervous_system(1)|skin(1)	13						c.(3898-3900)GGG>GTG		brain-specific angiogenesis inhibitor 2							28.0	25.0	26.0					1																	32196882		2203	4299	6502	SO:0001583	missense	576				negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr1:32196882C>A	AB005298	CCDS72746.1, CCDS72747.1	1p35	2014-08-08			ENSG00000121753	ENSG00000121753		"""-"", ""GPCR / Class B : Orphans"""	944	protein-coding gene	gene with protein product		602683				9533023	Standard	XM_006710783		Approved		uc001btn.3	O60241	OTTHUMG00000003885	ENST00000373658.3:c.3899G>T	1.37:g.32196882C>A	ENSP00000362762:p.Gly1300Val					BAI2_uc001btm.2_Missense_Mutation_p.G294V|BAI2_uc001btp.1_Missense_Mutation_p.G294V|BAI2_uc010ogn.1_Missense_Mutation_p.G270V|BAI2_uc010ogo.1_Missense_Mutation_p.G909V|BAI2_uc010ogp.1_Missense_Mutation_p.G1233V|BAI2_uc010ogq.1_Missense_Mutation_p.G1267V|BAI2_uc001bto.2_Missense_Mutation_p.G1300V	p.G1300V	NM_001703	NP_001694	O60241	BAI2_HUMAN		STAD - Stomach adenocarcinoma(196;0.0557)	29	4253	-		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0606)|all_neural(195;0.0837)|Breast(348;0.174)	1300			Cytoplasmic (Potential).		B9EGK9|Q5T6K0|Q8NGW8|Q96GZ9	Missense_Mutation	SNP	ENST00000373658.3	37	c.3899G>T	CCDS346.2	.	.	.	.	.	.	.	.	.	.	C	19.03	3.748699	0.69533	.	.	ENSG00000121753	ENST00000398556;ENST00000398547;ENST00000373658;ENST00000373655;ENST00000398542;ENST00000257070;ENST00000527361;ENST00000440175;ENST00000398538	T;T;T;T;T;T;T;T;T	0.57595	1.07;1.46;0.64;0.63;1.45;0.39;0.39;1.09;0.65	5.34	5.34	0.76211	.	0.000000	0.43919	D	0.000516	T	0.71719	0.3373	M	0.63843	1.955	0.80722	D	1	D;D;D;D;D;D;D	0.89917	1.0;0.998;0.992;0.996;1.0;0.996;0.996	D;D;P;D;D;D;D	0.97110	1.0;0.958;0.88;0.909;1.0;0.909;0.909	T	0.73764	-0.3880	10	0.87932	D	0	.	19.0256	0.92931	0.0:1.0:0.0:0.0	.	1267;1288;909;1215;1300;1300;1288	O60241-4;O60241-3;B4DKC3;A2A3C6;O60241-2;O60241;A2A3C2	.;.;.;.;.;BAI2_HUMAN;.	V	1215;1233;1300;1300;1200;1267;1267;909;1288	ENSP00000381564:G1215V;ENSP00000381555:G1233V;ENSP00000362762:G1300V;ENSP00000362759:G1300V;ENSP00000381550:G1200V;ENSP00000257070:G1267V;ENSP00000435397:G1267V;ENSP00000391071:G909V;ENSP00000381548:G1288V	ENSP00000257070:G1267V	G	-	2	0	BAI2	31969469	0.998000	0.40836	1.000000	0.80357	0.951000	0.60555	3.718000	0.54919	2.666000	0.90696	0.561000	0.74099	GGG		PASS	0.657	BAI2-015	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000381838.1	NM_001703		6	16	6	16	---	---	---	---
SPOCD1	90853	broad.mit.edu	37	1	32259485	32259485	+	Silent	SNP	C	C	T	rs535728600		TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr1:32259485C>T	ENST00000360482.2	-	12	2526	c.2397G>A	c.(2395-2397)tcG>tcA	p.S799S	SPOCD1_ENST00000257100.3_Silent_p.S292S|RP11-84A19.3_ENST00000527035.1_RNA|SPOCD1_ENST00000533231.1_Silent_p.S799S|SPOCD1_ENST00000373648.2_3'UTR	NM_144569.4	NP_653170.3	Q6ZMY3	SPOC1_HUMAN	SPOC domain containing 1	799					negative regulation of phosphatase activity (GO:0010923)|transcription, DNA-templated (GO:0006351)			p.S799S(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|liver(1)|lung(7)|ovary(6)|prostate(1)|skin(3)|stomach(1)|urinary_tract(2)	37		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)|Ovarian(437;0.199)		STAD - Stomach adenocarcinoma(196;0.18)		GCAGCTCATTCGAGGGCTCCC	0.582																																						uc001bts.1																			1	Substitution - coding silent(1)		lung(1)	ovary(5)|breast(1)	6						c.(2395-2397)TCG>TCA		SPOC domain containing 1							87.0	93.0	91.0					1																	32259485		2203	4300	6503	SO:0001819	synonymous_variant	90853				transcription, DNA-dependent			g.chr1:32259485C>T	AK058077	CCDS347.1, CCDS60066.1, CCDS72748.1	1p35.1	2014-06-13			ENSG00000134668	ENSG00000134668			26338	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 146"""					12477932	Standard	NM_144569		Approved	FLJ25348, PPP1R146	uc001bts.1	Q6ZMY3	OTTHUMG00000003879	ENST00000360482.2:c.2397G>A	1.37:g.32259485C>T						SPOCD1_uc001btr.1_5'Flank|SPOCD1_uc001btt.2_Silent_p.S104S|SPOCD1_uc001btu.2_Silent_p.S799S|SPOCD1_uc001btv.2_Silent_p.S292S	p.S799S	NM_144569	NP_653170	Q6ZMY3	SPOC1_HUMAN		STAD - Stomach adenocarcinoma(196;0.18)	12	2455	-		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)|Ovarian(437;0.199)	799					Q24JU3|Q6PI90|Q8N869|Q8N8U0|Q8NBC6|Q96LN6	Silent	SNP	ENST00000360482.2	37	c.2397G>A	CCDS347.1	.	.	.	.	.	.	.	.	.	.	C	4.203	0.036377	0.08148	.	.	ENSG00000134668	ENST00000528579	.	.	.	4.61	-4.74	0.03249	.	.	.	.	.	T	0.26122	0.0637	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.34129	-0.9841	4	.	.	.	0.2773	6.7265	0.23359	0.0:0.2814:0.1357:0.5829	.	.	.	.	Q	173	.	.	R	-	2	0	SPOCD1	32032072	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-1.415000	0.02469	-0.631000	0.05560	-0.444000	0.05651	CGA		PASS	0.582	SPOCD1-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000381912.1	NM_144569		49	176	49	176	---	---	---	---
CSMD2	114784	broad.mit.edu	37	1	34006158	34006158	+	Missense_Mutation	SNP	C	C	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr1:34006158C>T	ENST00000373381.4	-	60	9774	c.9598G>A	c.(9598-9600)Ggg>Agg	p.G3200R		NM_001281956.1|NM_052896.3	NP_001268885.1|NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	3176	Sushi 26. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.G3056R(1)		NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				GTCCAGGACCCATTTCCCTCA	0.587																																						uc001bxn.1																			1	Substitution - Missense(1)		lung(1)	ovary(6)|skin(5)|pancreas(1)	12						c.(9166-9168)GGG>AGG		CUB and Sushi multiple domains 2							114.0	96.0	102.0					1																	34006158		2203	4300	6503	SO:0001583	missense	114784					integral to membrane|plasma membrane	protein binding	g.chr1:34006158C>T	AY210418	CCDS380.1, CCDS60082.1	1p34.3	2014-01-28			ENSG00000121904	ENSG00000121904			19290	protein-coding gene	gene with protein product		608398				11472063, 11572484	Standard	NM_001281956		Approved	KIAA1884	uc001bxn.1	Q7Z408	OTTHUMG00000011135	ENST00000373381.4:c.9598G>A	1.37:g.34006158C>T	ENSP00000362479:p.Gly3200Arg					CSMD2_uc001bxm.1_Missense_Mutation_p.G3200R	p.G3056R	NM_052896	NP_443128	Q7Z408	CSMD2_HUMAN			59	9195	-		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)	3056			Sushi 23.|Extracellular (Potential).		B1AM50|E7EUA6|Q53TY4|Q5VT59|Q8N963|Q96Q03|Q9H4V7|Q9H4V8|Q9H4V9|Q9H4W0|Q9H4W1|Q9H4W2|Q9H4W3|Q9H4W4|Q9HCY5|Q9HCY6|Q9HCY7	Missense_Mutation	SNP	ENST00000373381.4	37	c.9166G>A		.	.	.	.	.	.	.	.	.	.	C	29.9	5.042577	0.93685	.	.	ENSG00000121904	ENST00000373381	T	0.72615	-0.67	5.67	5.67	0.87782	Complement control module (2);Sushi/SCR/CCP (3);	0.000000	0.85682	D	0.000000	D	0.85881	0.5800	M	0.84433	2.695	0.80722	D	1	D;D	0.71674	0.995;0.998	D;D	0.73380	0.98;0.98	D	0.85983	0.1484	10	0.46703	T	0.11	.	18.7573	0.91837	0.0:1.0:0.0:0.0	.	3056;3200	Q7Z408;E7EUA6	CSMD2_HUMAN;.	R	3200	ENSP00000362479:G3200R	ENSP00000241312:G3056R	G	-	1	0	CSMD2	33778745	1.000000	0.71417	0.948000	0.38648	0.890000	0.51754	6.071000	0.71229	2.689000	0.91719	0.462000	0.41574	GGG		PASS	0.587	CSMD2-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_052896		34	98	34	98	---	---	---	---
AGO4	192670	broad.mit.edu	37	1	36298081	36298081	+	Missense_Mutation	SNP	G	G	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr1:36298081G>T	ENST00000373210.3	+	11	1534	c.1289G>T	c.(1288-1290)cGa>cTa	p.R430L		NM_017629.3	NP_060099.2	Q9HCK5	AGO4_HUMAN	argonaute RISC catalytic component 4	430					epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|innate immune response (GO:0045087)|mRNA catabolic process (GO:0006402)|negative regulation of translation involved in gene silencing by miRNA (GO:0035278)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|phosphatidylinositol-mediated signaling (GO:0048015)	cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|membrane (GO:0016020)|micro-ribonucleoprotein complex (GO:0035068)|RISC complex (GO:0016442)	miRNA binding (GO:0035198)	p.R430L(1)									TGGGACATGCGAGGAAAGCAG	0.363																																						uc001bzj.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1288-1290)CGA>CTA		eukaryotic translation initiation factor 2C, 4							117.0	117.0	117.0					1																	36298081		2203	4300	6503	SO:0001583	missense	192670				mRNA catabolic process|negative regulation of translation involved in gene silencing by miRNA	cytoplasmic mRNA processing body|cytosol	protein binding|RNA binding	g.chr1:36298081G>T	AB046787	CCDS397.1	1p34	2013-02-15	2013-02-15	2013-02-15	ENSG00000134698	ENSG00000134698		"""Argonaute/PIWI family"""	18424	protein-coding gene	gene with protein product	"""argonaute 4"""	607356	"""eukaryotic translation initiation factor 2C, 4"""	EIF2C4		12906857	Standard	NM_017629		Approved	hAGO4, KIAA1567, FLJ20033	uc001bzj.2	Q9HCK5	OTTHUMG00000004243	ENST00000373210.3:c.1289G>T	1.37:g.36298081G>T	ENSP00000362306:p.Arg430Leu						p.R430L	NM_017629	NP_060099	Q9HCK5	AGO4_HUMAN			11	1479	+		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)	430					A7MD27	Missense_Mutation	SNP	ENST00000373210.3	37	c.1289G>T	CCDS397.1	.	.	.	.	.	.	.	.	.	.	G	22.9	4.353522	0.82243	.	.	ENSG00000134698	ENST00000373210	T	0.05447	3.44	5.27	5.27	0.74061	.	0.163299	0.53938	D	0.000056	T	0.31638	0.0803	M	0.93898	3.47	0.80722	D	1	D	0.61697	0.99	P	0.62014	0.897	T	0.42682	-0.9437	10	0.19147	T	0.46	-2.4459	18.9544	0.92653	0.0:0.0:1.0:0.0	.	430	Q9HCK5	AGO4_HUMAN	L	430	ENSP00000362306:R430L	ENSP00000362306:R430L	R	+	2	0	EIF2C4	36070668	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.869000	0.99810	2.486000	0.83907	0.650000	0.86243	CGA		PASS	0.363	AGO4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012213.3	NM_017629		26	62	26	62	---	---	---	---
CSF3R	1441	broad.mit.edu	37	1	36939205	36939205	+	Missense_Mutation	SNP	C	C	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr1:36939205C>A	ENST00000373106.1	-	6	1051	c.504G>T	c.(502-504)caG>caT	p.Q168H	CSF3R_ENST00000487540.2_5'Flank|CSF3R_ENST00000418048.2_Missense_Mutation_p.Q168H|CSF3R_ENST00000361632.4_Missense_Mutation_p.Q168H|CSF3R_ENST00000331941.5_Missense_Mutation_p.Q168H|CSF3R_ENST00000440588.2_Missense_Mutation_p.Q168H|CSF3R_ENST00000373103.1_Missense_Mutation_p.Q168H|CSF3R_ENST00000338937.5_Missense_Mutation_p.Q168H|CSF3R_ENST00000373104.1_Missense_Mutation_p.Q168H	NM_000760.3	NP_000751.1	Q99062	CSF3R_HUMAN	colony stimulating factor 3 receptor (granulocyte)	168	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)|defense response (GO:0006952)|neutrophil chemotaxis (GO:0030593)|odontogenesis of dentin-containing tooth (GO:0042475)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	cytokine receptor activity (GO:0004896)|receptor activity (GO:0004872)	p.Q168H(2)		central_nervous_system(3)|endometrium(2)|kidney(3)|large_intestine(9)|lung(16)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)			Filgrastim(DB00099)|Pegfilgrastim(DB00019)	CCCCTTGGGTCTGACAGTTGC	0.607																																						uc001caw.1																			2	Substitution - Missense(2)		lung(2)	central_nervous_system(2)|ovary(1)	3						c.(502-504)CAG>CAT		colony stimulating factor 3 receptor isoform a	Filgrastim(DB00099)|Pegfilgrastim(DB00019)						48.0	47.0	47.0					1																	36939205		2203	4300	6503	SO:0001583	missense	1441				cell adhesion|defense response	extracellular region|integral to plasma membrane	cytokine receptor activity	g.chr1:36939205C>A	M59820	CCDS412.1, CCDS413.1, CCDS414.1	1p35-p34.3	2014-09-17			ENSG00000119535	ENSG00000119535		"""CD molecules"", ""Fibronectin type III domain containing"""	2439	protein-coding gene	gene with protein product		138971		CD114		1371413	Standard	NM_000760		Approved	GCSFR	uc001cax.2	Q99062	OTTHUMG00000008010	ENST00000373106.1:c.504G>T	1.37:g.36939205C>A	ENSP00000362198:p.Gln168His					CSF3R_uc009vvc.1_5'Flank|CSF3R_uc001cau.1_5'Flank|CSF3R_uc001cav.1_Missense_Mutation_p.Q168H|CSF3R_uc001cax.1_Missense_Mutation_p.Q168H|CSF3R_uc001cay.1_Missense_Mutation_p.Q168H	p.Q168H	NM_000760	NP_000751	Q99062	CSF3R_HUMAN			6	682	-		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)	168			Fibronectin type-III 1.|Extracellular (Potential).			Missense_Mutation	SNP	ENST00000373106.1	37	c.504G>T	CCDS413.1	.	.	.	.	.	.	.	.	.	.	C	16.04	3.009123	0.54361	.	.	ENSG00000119535	ENST00000373106;ENST00000373104;ENST00000373103;ENST00000361632;ENST00000331941;ENST00000418048;ENST00000338937;ENST00000440588	T;T;T;T;T;T;T;T	0.35605	1.3;1.3;1.3;1.3;1.3;1.3;1.3;1.3	5.22	3.18	0.36537	Fibronectin, type III (3);Immunoglobulin-like fold (1);	0.741361	0.13400	N	0.390709	T	0.46268	0.1384	M	0.67953	2.075	0.26665	N	0.971837	D;D;D;D	0.60575	0.979;0.988;0.979;0.973	P;P;P;P	0.60286	0.749;0.872;0.749;0.706	T	0.31110	-0.9955	10	0.13470	T	0.59	-10.7858	6.3343	0.21287	0.1802:0.725:0.0:0.0948	.	168;168;168;168	E1B6W6;Q99062-3;Q99062;Q99062-4	.;.;CSF3R_HUMAN;.	H	168	ENSP00000362198:Q168H;ENSP00000362196:Q168H;ENSP00000362195:Q168H;ENSP00000355406:Q168H;ENSP00000332180:Q168H;ENSP00000401588:Q168H;ENSP00000345013:Q168H;ENSP00000397568:Q168H	ENSP00000332180:Q168H	Q	-	3	2	CSF3R	36711792	0.997000	0.39634	0.956000	0.39512	0.625000	0.37756	0.947000	0.29082	1.317000	0.45149	0.609000	0.83330	CAG		PASS	0.607	CSF3R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021997.2	NM_156039		17	27	17	27	---	---	---	---
CSF3R	1441	broad.mit.edu	37	1	36941175	36941175	+	Missense_Mutation	SNP	A	A	T	rs35776141		TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr1:36941175A>T	ENST00000373106.1	-	4	711	c.164T>A	c.(163-165)cTg>cAg	p.L55Q	CSF3R_ENST00000418048.2_Missense_Mutation_p.L55Q|CSF3R_ENST00000361632.4_Missense_Mutation_p.L55Q|CSF3R_ENST00000331941.5_Missense_Mutation_p.L55Q|CSF3R_ENST00000440588.2_Missense_Mutation_p.L55Q|CSF3R_ENST00000373103.1_Missense_Mutation_p.L55Q|CSF3R_ENST00000338937.5_Missense_Mutation_p.L55Q|CSF3R_ENST00000373104.1_Missense_Mutation_p.L55Q	NM_000760.3	NP_000751.1	Q99062	CSF3R_HUMAN	colony stimulating factor 3 receptor (granulocyte)	55	Ig-like C2-type.				cell adhesion (GO:0007155)|defense response (GO:0006952)|neutrophil chemotaxis (GO:0030593)|odontogenesis of dentin-containing tooth (GO:0042475)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	cytokine receptor activity (GO:0004896)|receptor activity (GO:0004872)	p.L55Q(2)		central_nervous_system(3)|endometrium(2)|kidney(3)|large_intestine(9)|lung(16)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)			Filgrastim(DB00099)|Pegfilgrastim(DB00019)	CTCCGGGTCCAGATGGCTGCA	0.612																																						uc001caw.1																			2	Substitution - Missense(2)		lung(2)	central_nervous_system(2)|ovary(1)	3						c.(163-165)CTG>CAG		colony stimulating factor 3 receptor isoform a	Filgrastim(DB00099)|Pegfilgrastim(DB00019)						49.0	44.0	46.0					1																	36941175		2203	4300	6503	SO:0001583	missense	1441				cell adhesion|defense response	extracellular region|integral to plasma membrane	cytokine receptor activity	g.chr1:36941175A>T	M59820	CCDS412.1, CCDS413.1, CCDS414.1	1p35-p34.3	2014-09-17			ENSG00000119535	ENSG00000119535		"""CD molecules"", ""Fibronectin type III domain containing"""	2439	protein-coding gene	gene with protein product		138971		CD114		1371413	Standard	NM_000760		Approved	GCSFR	uc001cax.2	Q99062	OTTHUMG00000008010	ENST00000373106.1:c.164T>A	1.37:g.36941175A>T	ENSP00000362198:p.Leu55Gln					CSF3R_uc001cav.1_Missense_Mutation_p.L55Q|CSF3R_uc001cax.1_Missense_Mutation_p.L55Q|CSF3R_uc001cay.1_Missense_Mutation_p.L55Q	p.L55Q	NM_000760	NP_000751	Q99062	CSF3R_HUMAN			4	342	-		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)	55			Ig-like C2-type.|Extracellular (Potential).			Missense_Mutation	SNP	ENST00000373106.1	37	c.164T>A	CCDS413.1	.	.	.	.	.	.	.	.	.	.	A	13.97	2.394806	0.42512	.	.	ENSG00000119535	ENST00000373106;ENST00000373104;ENST00000373103;ENST00000361632;ENST00000331941;ENST00000418048;ENST00000338937;ENST00000440588	T;T;T;T;T;T;T;T	0.77098	-1.07;-1.07;-1.07;-1.07;-1.07;-1.07;-1.07;-1.07	5.74	3.23	0.37069	Immunoglobulin C2-set-like, ligand-binding (1);Immunoglobulin-like fold (1);	1.618830	0.03057	N	0.155382	D	0.84875	0.5569	M	0.67953	2.075	0.27487	N	0.95241	D;D;D;D	0.63880	0.993;0.991;0.993;0.987	P;P;P;P	0.61722	0.893;0.829;0.858;0.745	T	0.63906	-0.6531	10	0.28530	T	0.3	-2.1481	7.2363	0.26072	0.7037:0.1515:0.0:0.1448	.	55;55;55;55	E1B6W6;Q99062-3;Q99062;Q99062-4	.;.;CSF3R_HUMAN;.	Q	55	ENSP00000362198:L55Q;ENSP00000362196:L55Q;ENSP00000362195:L55Q;ENSP00000355406:L55Q;ENSP00000332180:L55Q;ENSP00000401588:L55Q;ENSP00000345013:L55Q;ENSP00000397568:L55Q	ENSP00000332180:L55Q	L	-	2	0	CSF3R	36713762	0.329000	0.24696	0.295000	0.24960	0.065000	0.16274	1.812000	0.38952	1.074000	0.40909	0.459000	0.35465	CTG		PASS	0.612	CSF3R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021997.2	NM_156039		17	47	17	47	---	---	---	---
SNIP1	79753	broad.mit.edu	37	1	38005790	38005790	+	Silent	SNP	A	A	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr1:38005790A>T	ENST00000296215.6	-	3	966	c.894T>A	c.(892-894)tcT>tcA	p.S298S	SNIP1_ENST00000468040.1_5'Flank	NM_024700.3	NP_078976.2	Q8TAD8	SNIP1_HUMAN	Smad nuclear interacting protein 1	298	FHA. {ECO:0000255|PROSITE- ProRule:PRU00086}.				I-kappaB kinase/NF-kappaB signaling (GO:0007249)|production of miRNAs involved in gene silencing by miRNA (GO:0035196)|regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)	p.S298S(1)		breast(2)|cervix(2)|endometrium(1)|large_intestine(3)|lung(15)|ovary(1)|upper_aerodigestive_tract(1)	25		Myeloproliferative disorder(586;0.0393)				GCTTTGAACAAGACGGGTGAT	0.438																																						uc001cbi.2																			1	Substitution - coding silent(1)		lung(1)	upper_aerodigestive_tract(1)|lung(1)	2						c.(892-894)TCT>TCA		Smad nuclear interacting protein							133.0	124.0	127.0					1																	38005790		2203	4300	6503	SO:0001819	synonymous_variant	79753				production of miRNAs involved in gene silencing by miRNA	nucleus	protein binding	g.chr1:38005790A>T		CCDS419.1	1p34.3	2010-07-06			ENSG00000163877	ENSG00000163877			30587	protein-coding gene	gene with protein product		608241				10887155, 15378006	Standard	NM_024700		Approved		uc001cbi.4	Q8TAD8	OTTHUMG00000004225	ENST00000296215.6:c.894T>A	1.37:g.38005790A>T						SNIP1_uc010oid.1_RNA	p.S298S	NM_024700	NP_078976	Q8TAD8	SNIP1_HUMAN			3	967	-		Myeloproliferative disorder(586;0.0393)	298			FHA.		Q96SP9|Q9H9T7	Silent	SNP	ENST00000296215.6	37	c.894T>A	CCDS419.1																																																																																				PASS	0.438	SNIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012169.2	NM_024700		53	127	53	127	---	---	---	---
MACF1	23499	broad.mit.edu	37	1	39916832	39916832	+	Missense_Mutation	SNP	G	G	T	rs367715036		TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr1:39916832G>T	ENST00000372915.3	+	84	20151	c.20064G>T	c.(20062-20064)caG>caT	p.Q6688H	MACF1_ENST00000545844.1_Missense_Mutation_p.Q4730H|MACF1_ENST00000361689.2_Missense_Mutation_p.Q4730H|MACF1_ENST00000539005.1_Missense_Mutation_p.Q4600H|MACF1_ENST00000567887.1_Missense_Mutation_p.Q6826H|MACF1_ENST00000564288.1_Missense_Mutation_p.Q6789H|MACF1_ENST00000317713.7_Missense_Mutation_p.Q4730H|MACF1_ENST00000289893.4_Missense_Mutation_p.Q5232H			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	6688					ATP catabolic process (GO:0006200)|cell cycle arrest (GO:0007050)|Golgi to plasma membrane protein transport (GO:0043001)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of epithelial cell migration (GO:0010632)|regulation of focal adhesion assembly (GO:0051893)|regulation of microtubule-based process (GO:0032886)|Wnt signaling pathway (GO:0016055)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|poly(A) RNA binding (GO:0044822)	p.Q5232H(1)|p.Q4730H(1)		breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			CTGAGGACCAGCCCGTGCACG	0.547																																						uc010oiu.1																			2	Substitution - Missense(2)		lung(2)	ovary(8)|breast(3)|central_nervous_system(3)|skin(2)	16						c.(15694-15696)CAG>CAT		microfilament and actin filament cross-linker							111.0	103.0	106.0					1																	39916832		2203	4300	6503	SO:0001583	missense	23499				cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding	g.chr1:39916832G>T	AB007934	CCDS435.1	1p32-p31	2013-01-10			ENSG00000127603	ENSG00000127603		"""EF-hand domain containing"""	13664	protein-coding gene	gene with protein product	"""actin cross-linking factor"", ""620 kDa actin binding protein"", ""macrophin 1"", ""trabeculin-alpha"", ""actin cross-linking family protein 7"""	608271				7635207, 10529403	Standard	NM_012090		Approved	KIAA0465, ACF7, ABP620, KIAA1251, MACF, FLJ45612, FLJ46776	uc031pmc.1	Q9UPN3	OTTHUMG00000007754	ENST00000372915.3:c.20064G>T	1.37:g.39916832G>T	ENSP00000362006:p.Gln6688His					MACF1_uc010ois.1_Missense_Mutation_p.Q4730H	p.Q5232H	NM_033044	NP_149033	Q9UPN3	MACF1_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)		50	15827	+	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					B1ALC5|E9PJT0|O75053|Q5VW20|Q8WXY1|Q8WXY2|Q96PK2|Q9H540|Q9UKP0|Q9ULG9	Missense_Mutation	SNP	ENST00000372915.3	37	c.15696G>T		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	19.49|19.49	3.837987|3.837987	0.71373|0.71373	.|.	.|.	ENSG00000127603|ENSG00000127603	ENST00000372925|ENST00000545844;ENST00000372915;ENST00000361689;ENST00000317713;ENST00000539005;ENST00000289893	.|T;T;T;T;T;T	.|0.50548	.|0.74;0.74;0.74;0.74;0.74;0.74	6.16|6.16	1.16|1.16	0.20824|0.20824	.|.	.|0.000000	.|0.64402	.|D	.|0.000015	T|T	0.62889|0.62889	0.2465|0.2465	M|M	0.62723|0.62723	1.935|1.935	0.80722|0.80722	D|D	1|1	.|D;D	.|0.89917	.|0.999;1.0	.|D;D	.|0.91635	.|0.991;0.999	T|T	0.64664|0.64664	-0.6354|-0.6354	5|10	.|0.72032	.|D	.|0.01	.|.	13.1054|13.1054	0.59244|0.59244	0.2869:0.0:0.7131:0.0|0.2869:0.0:0.7131:0.0	.|.	.|6688;4730	.|Q9UPN3;F8W8Q1	.|MACF1_HUMAN;.	S|H	3734|4730;6688;4730;4730;4600;5232	.|ENSP00000439537:Q4730H;ENSP00000362006:Q6688H;ENSP00000354573:Q4730H;ENSP00000313438:Q4730H;ENSP00000444364:Q4600H;ENSP00000289893:Q5232H	.|ENSP00000289893:Q5232H	A|Q	+|+	1|3	0|2	MACF1|MACF1	39689419|39689419	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.889000|0.889000	0.51656|0.51656	2.332000|2.332000	0.43903|0.43903	0.196000|0.196000	0.20367|0.20367	-0.813000|-0.813000	0.03139|0.03139	GCC|CAG		PASS	0.547	MACF1-028	NOVEL	not_organism_supported|basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000392096.1	NM_033044		18	56	18	56	---	---	---	---
MFSD2A	84879	broad.mit.edu	37	1	40432551	40432551	+	Missense_Mutation	SNP	G	G	T	rs201045061		TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr1:40432551G>T	ENST00000372809.5	+	8	1056	c.913G>T	c.(913-915)Ggc>Tgc	p.G305C	MFSD2A_ENST00000480630.1_Intron|MFSD2A_ENST00000420632.2_Missense_Mutation_p.G136C|MFSD2A_ENST00000372811.5_Missense_Mutation_p.G292C	NM_001136493.1	NP_001129965.1	Q8NA29	NLS1_HUMAN	major facilitator superfamily domain containing 2A	305					establishment of blood-brain barrier (GO:0060856)|fatty acid transport (GO:0015908)|lipid transport across blood brain barrier (GO:1990379)|transcytosis (GO:0045056)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	phospholipid transporter activity (GO:0005548)|symporter activity (GO:0015293)	p.G292C(1)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	24						CATGAGCCACGGCCCATACAT	0.562																																						uc001cev.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|pancreas(1)	2						c.(913-915)GGC>TGC		major facilitator superfamily domain containing							113.0	106.0	108.0					1																	40432551		2203	4300	6503	SO:0001583	missense	84879				transmembrane transport	endoplasmic reticulum membrane|integral to membrane		g.chr1:40432551G>T	AK093223	CCDS446.1, CCDS44118.1, CCDS72762.1	1p34.2	2009-09-08	2009-09-08	2009-09-08	ENSG00000168389	ENSG00000168389			25897	protein-coding gene	gene with protein product		614397	"""major facilitator superfamily domain containing 2"""	MFSD2		18694395	Standard	XM_005271285		Approved	FLJ14490	uc001cev.3	Q8NA29	OTTHUMG00000009293	ENST00000372809.5:c.913G>T	1.37:g.40432551G>T	ENSP00000361895:p.Gly305Cys					MFSD2A_uc010ojb.1_Missense_Mutation_p.G253C|MFSD2A_uc001ceu.2_Missense_Mutation_p.G292C|MFSD2A_uc010ojc.1_Missense_Mutation_p.G136C|MFSD2A_uc009vvy.2_RNA|MFSD2A_uc001cex.2_5'Flank	p.G305C	NM_001136493	NP_001129965	Q8NA29	MFS2A_HUMAN			8	1094	+			305					A8K675|Q6UWU5|Q96F59|Q9BRC8	Missense_Mutation	SNP	ENST00000372809.5	37	c.913G>T	CCDS44118.1	.	.	.	.	.	.	.	.	.	.	G	16.94	3.260082	0.59321	.	.	ENSG00000168389	ENST00000372811;ENST00000420632;ENST00000372809	T;T;T	0.81078	-1.45;-1.45;-1.45	5.64	5.64	0.86602	Major facilitator superfamily domain, general substrate transporter (1);	0.145914	0.64402	D	0.000006	D	0.88440	0.6437	M	0.76328	2.33	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.998	D;D;D	0.87578	0.998;0.992;0.959	D	0.88441	0.3042	10	0.59425	D	0.04	-18.7761	12.3892	0.55348	0.0767:0.0:0.9233:0.0	.	253;305;292	B4DNN7;Q8NA29;Q8NA29-2	.;MFS2A_HUMAN;.	C	292;136;305	ENSP00000361898:G292C;ENSP00000391261:G136C;ENSP00000361895:G305C	ENSP00000361895:G305C	G	+	1	0	MFSD2A	40205138	1.000000	0.71417	0.992000	0.48379	0.551000	0.35334	6.436000	0.73417	2.816000	0.96949	0.563000	0.77884	GGC		PASS	0.562	MFSD2A-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000025756.1	NM_032793		39	96	39	96	---	---	---	---
RLF	6018	broad.mit.edu	37	1	40701552	40701552	+	Nonsense_Mutation	SNP	C	C	G			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr1:40701552C>G	ENST00000372771.4	+	8	1205	c.1178C>G	c.(1177-1179)tCa>tGa	p.S393*		NM_012421.3	NP_036553.2	Q13129	RLF_HUMAN	rearranged L-myc fusion	393					chromosome organization (GO:0051276)|DNA integration (GO:0015074)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)	p.S393*(1)		NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(18)|lung(18)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(4)|urinary_tract(2)	68	Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;5.87e-19)|Epithelial(16;7.02e-16)|all cancers(16;1.69e-14)|Lung(16;0.0427)|LUSC - Lung squamous cell carcinoma(16;0.0461)			ATGAAGGCATCAGTTTGTAAA	0.393																																						uc001cfc.3																			1	Substitution - Nonsense(1)		lung(1)	ovary(2)|pancreas(1)	3						c.(1177-1179)TCA>TGA		rearranged L-myc fusion							90.0	93.0	92.0					1																	40701552		2203	4300	6503	SO:0001587	stop_gained	6018				chromosome organization|DNA integration|DNA mediated transformation|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		DNA binding|protein binding|zinc ion binding	g.chr1:40701552C>G		CCDS448.1	1p32	2010-05-07	2005-08-16		ENSG00000117000	ENSG00000117000		"""Zinc fingers, C2H2-type"""	10025	protein-coding gene	gene with protein product		180610	"""rearranged L-myc fusion sequence"""			1649386	Standard	NM_012421		Approved	ZNF292L, Zn-15L	uc001cfc.4	Q13129	OTTHUMG00000005763	ENST00000372771.4:c.1178C>G	1.37:g.40701552C>G	ENSP00000361857:p.Ser393*					RLF_uc001cfd.3_Nonsense_Mutation_p.S84*	p.S393*	NM_012421	NP_036553	Q13129	RLF_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;5.87e-19)|Epithelial(16;7.02e-16)|all cancers(16;1.69e-14)|Lung(16;0.0427)|LUSC - Lung squamous cell carcinoma(16;0.0461)		8	1209	+	Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	393					Q14CQ1|Q9NU60	Nonsense_Mutation	SNP	ENST00000372771.4	37	c.1178C>G	CCDS448.1	.	.	.	.	.	.	.	.	.	.	C	23.1	4.379703	0.82682	.	.	ENSG00000117000	ENST00000372771;ENST00000535839	.	.	.	6.07	6.07	0.98685	.	0.116455	0.64402	D	0.000010	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	-11.5076	20.6593	0.99626	0.0:1.0:0.0:0.0	.	.	.	.	X	393;86	.	ENSP00000361857:S393X	S	+	2	0	RLF	40474139	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.052000	0.71080	2.885000	0.99019	0.655000	0.94253	TCA		PASS	0.393	RLF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000015767.1	NM_012421		36	82	36	82	---	---	---	---
EXO5	64789	broad.mit.edu	37	1	40981204	40981204	+	Nonsense_Mutation	SNP	C	C	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr1:40981204C>T	ENST00000372703.1	+	2	2062	c.988C>T	c.(988-990)Cga>Tga	p.R330*	EXO5_ENST00000358527.2_Nonsense_Mutation_p.R330*|EXO5_ENST00000296380.4_Nonsense_Mutation_p.R330*|RP11-656D10.5_ENST00000453437.1_RNA|RP11-656D10.6_ENST00000437060.1_RNA			Q9H790	EXO5_HUMAN	exonuclease 5	330					DNA catabolic process, exonucleolytic (GO:0000738)|interstrand cross-link repair (GO:0036297)	cytosol (GO:0005829)|nucleus (GO:0005634)	4 iron, 4 sulfur cluster binding (GO:0051539)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|single-stranded DNA 3'-5' exodeoxyribonuclease activity (GO:0008310)|single-stranded DNA 5'-3' exodeoxyribonuclease activity (GO:0045145)	p.R330*(1)									GATGGGCCACCGAGAGCCCCA	0.557																																						uc001cfp.2																			1	Substitution - Nonsense(1)		lung(1)		0						c.(988-990)CGA>TGA		defects in morphology 1 homolog							66.0	55.0	58.0					1																	40981204		2203	4300	6503	SO:0001587	stop_gained	64789						DNA binding|exonuclease activity	g.chr1:40981204C>T	AK024797	CCDS453.1	1p34.2	2012-11-02	2012-10-30	2012-10-30	ENSG00000164002	ENSG00000164002			26115	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 176"", ""defects in morphology 1 homolog (S. cerevisiae)"""	C1orf176, DEM1		23095756	Standard	NM_022774		Approved	FLJ21144	uc001cfp.3	Q9H790	OTTHUMG00000007305	ENST00000372703.1:c.988C>T	1.37:g.40981204C>T	ENSP00000361788:p.Arg330*					DEM1_uc001cfq.2_Nonsense_Mutation_p.R330*|DEM1_uc001cfr.2_Nonsense_Mutation_p.R330*|DEM1_uc001cfs.2_Nonsense_Mutation_p.R330*	p.R330*	NM_022774	NP_073611	Q9H790	EXO5_HUMAN			3	1193	+			330					D3DPV4|Q5SWM7|Q5SWM8|Q5SWM9|Q5SWN0|Q5SWN1|Q8WTW9	Nonsense_Mutation	SNP	ENST00000372703.1	37	c.988C>T	CCDS453.1	.	.	.	.	.	.	.	.	.	.	C	26.5	4.746758	0.89663	.	.	ENSG00000164002	ENST00000358527;ENST00000372703;ENST00000296380	.	.	.	5.32	4.35	0.52113	.	0.000000	0.46145	D	0.000306	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-1.1026	10.8003	0.46485	0.1885:0.8115:0.0:0.0	.	.	.	.	X	330	.	ENSP00000296380:R330X	R	+	1	2	DEM1	40753791	0.998000	0.40836	1.000000	0.80357	0.340000	0.28889	1.692000	0.37731	2.941000	0.99782	0.655000	0.94253	CGA		PASS	0.557	EXO5-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019087.1	NM_022774		12	43	12	43	---	---	---	---
EXO5	64789	broad.mit.edu	37	1	40981278	40981278	+	Missense_Mutation	SNP	G	G	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr1:40981278G>T	ENST00000372703.1	+	2	2136	c.1062G>T	c.(1060-1062)tgG>tgT	p.W354C	EXO5_ENST00000358527.2_Missense_Mutation_p.W354C|EXO5_ENST00000296380.4_Missense_Mutation_p.W354C|RP11-656D10.5_ENST00000453437.1_RNA|RP11-656D10.6_ENST00000437060.1_RNA			Q9H790	EXO5_HUMAN	exonuclease 5	354					DNA catabolic process, exonucleolytic (GO:0000738)|interstrand cross-link repair (GO:0036297)	cytosol (GO:0005829)|nucleus (GO:0005634)	4 iron, 4 sulfur cluster binding (GO:0051539)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|single-stranded DNA 3'-5' exodeoxyribonuclease activity (GO:0008310)|single-stranded DNA 5'-3' exodeoxyribonuclease activity (GO:0045145)	p.W354C(1)									TTTGTGAGTGGAGAAAGGGCA	0.517																																						uc001cfp.2																			1	Substitution - Missense(1)		lung(1)		0						c.(1060-1062)TGG>TGT		defects in morphology 1 homolog							56.0	51.0	53.0					1																	40981278		2203	4300	6503	SO:0001583	missense	64789						DNA binding|exonuclease activity	g.chr1:40981278G>T	AK024797	CCDS453.1	1p34.2	2012-11-02	2012-10-30	2012-10-30	ENSG00000164002	ENSG00000164002			26115	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 176"", ""defects in morphology 1 homolog (S. cerevisiae)"""	C1orf176, DEM1		23095756	Standard	NM_022774		Approved	FLJ21144	uc001cfp.3	Q9H790	OTTHUMG00000007305	ENST00000372703.1:c.1062G>T	1.37:g.40981278G>T	ENSP00000361788:p.Trp354Cys					DEM1_uc001cfq.2_Missense_Mutation_p.W354C|DEM1_uc001cfr.2_Missense_Mutation_p.W354C|DEM1_uc001cfs.2_Missense_Mutation_p.W354C	p.W354C	NM_022774	NP_073611	Q9H790	EXO5_HUMAN			3	1267	+			354					D3DPV4|Q5SWM7|Q5SWM8|Q5SWM9|Q5SWN0|Q5SWN1|Q8WTW9	Missense_Mutation	SNP	ENST00000372703.1	37	c.1062G>T	CCDS453.1	.	.	.	.	.	.	.	.	.	.	G	15.58	2.876679	0.51801	.	.	ENSG00000164002	ENST00000358527;ENST00000372703;ENST00000296380	T;T;T	0.36340	1.26;1.26;1.26	5.22	5.22	0.72569	.	0.000000	0.52532	D	0.000061	T	0.63920	0.2552	M	0.86268	2.805	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.68161	-0.5482	10	0.87932	D	0	-4.6503	14.5001	0.67716	0.0:0.0:1.0:0.0	.	354	Q9H790	EXO5_HUMAN	C	354	ENSP00000351328:W354C;ENSP00000361788:W354C;ENSP00000296380:W354C	ENSP00000296380:W354C	W	+	3	0	DEM1	40753865	1.000000	0.71417	1.000000	0.80357	0.579000	0.36224	5.826000	0.69293	2.894000	0.99253	0.655000	0.94253	TGG		PASS	0.517	EXO5-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019087.1	NM_022774		14	67	14	67	---	---	---	---
EBNA1BP2	10969	broad.mit.edu	37	1	43632543	43632543	+	Missense_Mutation	SNP	C	C	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr1:43632543C>A	ENST00000236051.2	-	7	802	c.661G>T	c.(661-663)Gca>Tca	p.A221S	EBNA1BP2_ENST00000431635.2_Missense_Mutation_p.A276S	NM_006824.2	NP_006815.2	Q99848	EBP2_HUMAN	EBNA1 binding protein 2	221					ribosome biogenesis (GO:0042254)	membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)	p.A221S(1)		endometrium(1)|kidney(2)|large_intestine(4)|lung(9)	16	Ovarian(52;0.00579)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				TTGCGCTGTGCCAGAGGTTTC	0.473																																						uc001cin.2																			1	Substitution - Missense(1)		lung(1)		0						c.(661-663)GCA>TCA		EBNA1 binding protein 2 isoform 2							155.0	151.0	152.0					1																	43632543		2203	4300	6503	SO:0001583	missense	10969				ribosome biogenesis	membrane fraction|nucleolus	protein binding	g.chr1:43632543C>A	U86602	CCDS478.1, CCDS53308.1	1p35-p33	2011-02-10	2001-11-28		ENSG00000117395	ENSG00000117395			15531	protein-coding gene	gene with protein product		614443	"""EBNA1-binding protein 2"""			10074103, 11438656	Standard	NM_001159936		Approved	NOBP, EBP2, P40	uc010ojx.2	Q99848	OTTHUMG00000007284	ENST00000236051.2:c.661G>T	1.37:g.43632543C>A	ENSP00000236051:p.Ala221Ser					EBNA1BP2_uc001cio.2_Missense_Mutation_p.A276S|EBNA1BP2_uc001cim.2_Missense_Mutation_p.A116S|EBNA1BP2_uc010ojx.1_Missense_Mutation_p.A276S	p.A221S	NM_006824	NP_006815	Q99848	EBP2_HUMAN			7	858	-	Ovarian(52;0.00579)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)	221					Q96A66	Missense_Mutation	SNP	ENST00000236051.2	37	c.661G>T	CCDS478.1	.	.	.	.	.	.	.	.	.	.	c	0.012	-1.661388	0.00772	.	.	ENSG00000117395	ENST00000431635;ENST00000236051	T;T	0.41400	1.0;1.0	5.77	1.4	0.22301	.	0.680895	0.16006	N	0.234073	T	0.11537	0.0281	N	0.02286	-0.61	0.09310	N	1	B;B	0.06786	0.001;0.001	B;B	0.06405	0.002;0.002	T	0.26916	-1.0089	10	0.05959	T	0.93	-0.954	0.9422	0.01358	0.3651:0.2943:0.1077:0.2329	.	221;221	Q6IB29;Q99848	.;EBP2_HUMAN	S	276;221	ENSP00000407323:A276S;ENSP00000236051:A221S	ENSP00000236051:A221S	A	-	1	0	EBNA1BP2	43405130	0.000000	0.05858	0.001000	0.08648	0.000000	0.00434	-0.072000	0.11486	0.752000	0.32923	-1.362000	0.01212	GCA		PASS	0.473	EBNA1BP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019015.1			28	83	28	83	---	---	---	---
MPL	4352	broad.mit.edu	37	1	43805701	43805701	+	Missense_Mutation	SNP	T	T	C			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr1:43805701T>C	ENST00000372470.3	+	5	799	c.757T>C	c.(757-759)Tgg>Cgg	p.W253R	MPL_ENST00000413998.2_Missense_Mutation_p.W253R	NM_005373.2	NP_005364.1	P40238	TPOR_HUMAN	MPL proto-oncogene, thrombopoietin receptor	253	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				blood coagulation (GO:0007596)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|homeostasis of number of cells (GO:0048872)|platelet activation (GO:0030168)|regulation of chemokine production (GO:0032642)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cytokine receptor activity (GO:0004896)|transmembrane signaling receptor activity (GO:0004888)	p.W253R(1)		central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(551)|large_intestine(3)|lung(7)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	567	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)			Eltrombopag(DB06210)|Romiplostim(DB05332)	CAACTCCTACTGGCTGCAGCT	0.597			Mis		MPD	MPD	congenital amegakaryocytic thrombocytopenia																														NSCLC(52;534 1204 10016 41452 44427)	uc001ciw.2			yes	Dom	yes	Familial essential thrombocythemia	1	p34	4352	Mis	"""myeloproliferative leukemia virus oncogene, thrombopoietin receptor"""	yes	congenital amegakaryocytic thrombocytopenia	L		MPD	MPD		1	Substitution - Missense(1)		lung(1)	haematopoietic_and_lymphoid_tissue(361)|upper_aerodigestive_tract(1)|pancreas(1)	363						c.(757-759)TGG>CGG		myeloproliferative leukemia virus oncogene							54.0	50.0	51.0					1																	43805701		2203	4300	6503	SO:0001583	missense	4352				cell proliferation|platelet activation	integral to plasma membrane	cytokine receptor activity	g.chr1:43805701T>C	M90102	CCDS483.1	1p34	2014-09-17	2014-06-26		ENSG00000117400	ENSG00000117400		"""CD molecules"", ""Fibronectin type III domain containing"""	7217	protein-coding gene	gene with protein product		159530	"""myeloproliferative leukemia virus oncogene"""			1608974	Standard	NM_005373		Approved	CD110, TPOR	uc001ciw.3	P40238	OTTHUMG00000007429	ENST00000372470.3:c.757T>C	1.37:g.43805701T>C	ENSP00000361548:p.Trp253Arg					MPL_uc001civ.2_Missense_Mutation_p.W253R|MPL_uc009vwr.2_Missense_Mutation_p.W246R	p.W253R	NM_005373	NP_005364	P40238	TPOR_HUMAN			5	802	+	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)	253			Extracellular (Potential).		Q5JUZ0	Missense_Mutation	SNP	ENST00000372470.3	37	c.757T>C	CCDS483.1	.	.	.	.	.	.	.	.	.	.	T	10.23	1.291937	0.23564	.	.	ENSG00000117400	ENST00000372468;ENST00000372470;ENST00000413998	D;D	0.85088	-1.94;-1.94	5.98	3.67	0.42095	Fibronectin, type III (2);Immunoglobulin-like fold (1);	0.794060	0.12319	N	0.479456	T	0.80560	0.4646	M	0.65975	2.015	0.26828	N	0.968656	B;B;B	0.10296	0.002;0.002;0.003	B;B;B	0.10450	0.002;0.002;0.005	T	0.65907	-0.6054	10	0.23302	T	0.38	-2.6109	4.8275	0.13423	0.1648:0.0852:0.0:0.75	.	246;253;253	Q308M1;P40238;Q5JUY5	.;TPOR_HUMAN;.	R	253	ENSP00000361548:W253R;ENSP00000414004:W253R	ENSP00000361546:W253R	W	+	1	0	MPL	43578288	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	0.643000	0.24750	1.061000	0.40601	0.482000	0.46254	TGG		PASS	0.597	MPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019522.1	NM_005373		17	51	17	51	---	---	---	---
PTPRF	5792	broad.mit.edu	37	1	44085828	44085828	+	Missense_Mutation	SNP	G	G	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr1:44085828G>T	ENST00000359947.4	+	30	5514	c.5174G>T	c.(5173-5175)cGc>cTc	p.R1725L	PTPRF_ENST00000496447.1_3'UTR|PTPRF_ENST00000438120.1_Missense_Mutation_p.R1716L|PTPRF_ENST00000422171.2_Missense_Mutation_p.R1084L|PTPRF_ENST00000372413.3_Missense_Mutation_p.R1716L|PTPRF_ENST00000372414.3_Missense_Mutation_p.R1725L	NM_002840.3	NP_002831.2	P10586	PTPRF_HUMAN	protein tyrosine phosphatase, receptor type, F	1725	Tyrosine-protein phosphatase 2. {ECO:0000255|PROSITE-ProRule:PRU00160}.				cell adhesion (GO:0007155)|cell migration (GO:0016477)|negative regulation of receptor binding (GO:1900121)|peptidyl-tyrosine dephosphorylation (GO:0035335)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	heparin binding (GO:0008201)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)	p.R1715L(1)		NS(2)|breast(4)|central_nervous_system(3)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(24)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)	72	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				GACTTCTGGCGCATGCTATGG	0.592																																						uc001cjr.2																			1	Substitution - Missense(1)		lung(1)	ovary(4)|skin(3)|lung(1)|kidney(1)|central_nervous_system(1)	10						c.(5173-5175)CGC>CTC		protein tyrosine phosphatase, receptor type, F							121.0	114.0	116.0					1																	44085828		2203	4300	6503	SO:0001583	missense	5792				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity	g.chr1:44085828G>T	Y00815	CCDS489.2, CCDS490.2	1p34	2013-02-11			ENSG00000142949	ENSG00000142949		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	9670	protein-coding gene	gene with protein product		179590		LAR		7558042	Standard	NM_130440		Approved		uc001cjr.3	P10586	OTTHUMG00000007501	ENST00000359947.4:c.5174G>T	1.37:g.44085828G>T	ENSP00000353030:p.Arg1725Leu					PTPRF_uc001cjs.2_Missense_Mutation_p.R1716L|PTPRF_uc001cju.2_Missense_Mutation_p.R1114L|PTPRF_uc009vwt.2_Missense_Mutation_p.R1285L|PTPRF_uc001cjv.2_Missense_Mutation_p.R1196L|PTPRF_uc001cjw.2_Missense_Mutation_p.R951L	p.R1725L	NM_002840	NP_002831	P10586	PTPRF_HUMAN			30	5514	+	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)	1725			Tyrosine-protein phosphatase 2.|Cytoplasmic (Potential).		D3DPX6|D3DPX7|Q5T021|Q5T022|Q5W9G2|Q86WS0	Missense_Mutation	SNP	ENST00000359947.4	37	c.5174G>T	CCDS489.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	26.8|26.8	4.773212|4.773212	0.90108|0.90108	.|.	.|.	ENSG00000142949|ENSG00000142949	ENST00000429895|ENST00000359947;ENST00000438120;ENST00000372414;ENST00000372413;ENST00000422171;ENST00000372407	.|D;D;D;D;D;D	.|0.85258	.|-1.96;-1.96;-1.96;-1.96;-1.96;-1.96	4.97|4.97	4.97|4.97	0.65823|0.65823	.|Protein-tyrosine phosphatase, receptor/non-receptor type (3);	.|0.000000	.|0.34828	.|N	.|0.003651	D|D	0.93301|0.93301	0.7865|0.7865	M|M	0.85777|0.85777	2.775|2.775	0.80722|0.80722	D|D	1|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	.|0.993;1.0;0.999;0.995;1.0	D|D	0.94026|0.94026	0.7297|0.7297	5|10	.|0.87932	.|D	.|0	.|.	19.129|19.129	0.93397|0.93397	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|1370;1084;1302;1716;1725	.|Q59FI2;F2Z3B8;Q5W9G3;P10586-2;P10586	.|.;.;.;.;PTPRF_HUMAN	S|L	1371|1725;1716;1725;1716;1084;797	.|ENSP00000353030:R1725L;ENSP00000398822:R1716L;ENSP00000361491:R1725L;ENSP00000361490:R1716L;ENSP00000387885:R1084L;ENSP00000361484:R797L	.|ENSP00000353030:R1725L	A|R	+|+	1|2	0|0	PTPRF|PTPRF	43858415|43858415	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.807000|9.807000	0.99171|0.99171	2.700000|2.700000	0.92200|0.92200	0.563000|0.563000	0.77884|0.77884	GCA|CGC		PASS	0.592	PTPRF-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000019710.1			44	96	44	96	---	---	---	---
KIF2C	11004	broad.mit.edu	37	1	45232789	45232789	+	Missense_Mutation	SNP	C	C	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr1:45232789C>A	ENST00000372224.4	+	21	2229	c.2116C>A	c.(2116-2118)Ctg>Atg	p.L706M	KIF2C_ENST00000372217.1_Missense_Mutation_p.L652M|KIF2C_ENST00000372222.3_Missense_Mutation_p.L593M|RP11-269F19.2_ENST00000428791.1_RNA|KIF2C_ENST00000372218.4_Missense_Mutation_p.L665M	NM_006845.3	NP_006836.2	Q99661	KIF2C_HUMAN	kinesin family member 2C	706					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|cell proliferation (GO:0008283)|chromosome segregation (GO:0007059)|establishment or maintenance of microtubule cytoskeleton polarity (GO:0030951)|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)	chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|kinesin complex (GO:0005871)|kinetochore (GO:0000776)|membrane (GO:0016020)|microtubule cytoskeleton (GO:0015630)|microtubule plus-end (GO:0035371)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|centromeric DNA binding (GO:0019237)|microtubule motor activity (GO:0003777)|microtubule plus-end binding (GO:0051010)	p.L706M(1)		breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(16)|ovary(1)|skin(1)|urinary_tract(1)	34	Acute lymphoblastic leukemia(166;0.155)					GGCCTTGCGCCTGGCCATGCA	0.527																																						uc001cmg.3																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(2116-2118)CTG>ATG		kinesin family member 2C							100.0	110.0	106.0					1																	45232789		2203	4300	6503	SO:0001583	missense	11004				blood coagulation|cell division|cell proliferation|chromosome segregation|establishment or maintenance of microtubule cytoskeleton polarity|microtubule depolymerization|microtubule-based movement|mitotic prometaphase|regulation of chromosome segregation	condensed chromosome kinetochore|cytosol|kinesin complex|microtubule|nucleus	ATP binding|centromeric DNA binding|microtubule motor activity|microtubule plus-end binding	g.chr1:45232789C>A	U63743	CCDS512.1, CCDS72774.1	1p34.1	2014-01-21	2003-01-13	2003-01-17	ENSG00000142945	ENSG00000142945		"""Kinesins"""	6393	protein-coding gene	gene with protein product		604538	"""kinesin-like 6 (mitotic centromere-associated kinesin)"""	KNSL6		9434124	Standard	NM_006845		Approved	MCAK, CT139	uc001cmg.4	Q99661	OTTHUMG00000008416	ENST00000372224.4:c.2116C>A	1.37:g.45232789C>A	ENSP00000361298:p.Leu706Met					KIF2C_uc010olb.1_Missense_Mutation_p.L665M|KIF2C_uc010olc.1_Missense_Mutation_p.L593M|KIF2C_uc001cmh.3_Missense_Mutation_p.L652M	p.L706M	NM_006845	NP_006836	Q99661	KIF2C_HUMAN			21	2231	+	Acute lymphoblastic leukemia(166;0.155)		706					B3ITR9|Q5JR88|Q6ICU1|Q96C18|Q96HB8|Q9BWV8	Missense_Mutation	SNP	ENST00000372224.4	37	c.2116C>A	CCDS512.1	.	.	.	.	.	.	.	.	.	.	C	12.70	2.017007	0.35606	.	.	ENSG00000142945	ENST00000372224;ENST00000372218;ENST00000372222;ENST00000372217	T;T;T;T	0.75050	-0.89;-0.71;-0.89;-0.9	5.76	0.615	0.17608	.	0.408056	0.23928	N	0.043165	T	0.47135	0.1429	N	0.08118	0	0.20307	N	0.999914	B;B;B	0.15719	0.008;0.014;0.008	B;B;B	0.18871	0.01;0.023;0.01	T	0.30119	-0.9989	10	0.46703	T	0.11	.	2.4731	0.04569	0.1051:0.4424:0.2048:0.2476	.	665;652;706	B7Z6Q6;Q99661-2;Q99661	.;.;KIF2C_HUMAN	M	706;665;593;652	ENSP00000361298:L706M;ENSP00000361292:L665M;ENSP00000361296:L593M;ENSP00000361291:L652M	ENSP00000361291:L652M	L	+	1	2	KIF2C	45005376	0.484000	0.25964	0.965000	0.40720	0.993000	0.82548	0.379000	0.20585	-0.125000	0.11703	0.563000	0.77884	CTG		PASS	0.527	KIF2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000023180.1	NM_006845		31	120	31	120	---	---	---	---
ZCCHC11	23318	broad.mit.edu	37	1	52956403	52956403	+	Splice_Site	SNP	C	C	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr1:52956403C>A	ENST00000371544.3	-	8	1651		c.e8+1		ZCCHC11_ENST00000371541.1_Splice_Site|ZCCHC11_ENST00000257177.4_Splice_Site	NM_001009881.2|NM_015269.2	NP_001009881.1|NP_056084.1	Q5TAX3	TUT4_HUMAN	zinc finger, CCHC domain containing 11						cytokine production (GO:0001816)|miRNA catabolic process (GO:0010587)|miRNA metabolic process (GO:0010586)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|pre-miRNA processing (GO:0031054)|regulation of lipopolysaccharide-mediated signaling pathway (GO:0031664)|RNA 3'-end processing (GO:0031123)|stem cell maintenance (GO:0019827)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)|RNA uridylyltransferase activity (GO:0050265)|zinc ion binding (GO:0008270)	p.?(1)		NS(2)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(17)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	58						TTGTTACCAACCTTTTTCGAT	0.294																																						uc001ctx.2																			1	Unknown(1)		lung(1)	ovary(2)|skin(1)	3						c.e8+1		zinc finger, CCHC domain containing 11 isoform							55.0	55.0	55.0					1																	52956403		2200	4299	6499	SO:0001630	splice_region_variant	23318				miRNA catabolic process|pre-miRNA processing|RNA 3'-end processing|stem cell maintenance	cytoplasm|nucleolus	nucleic acid binding|protein binding|protein binding|RNA uridylyltransferase activity|zinc ion binding	g.chr1:52956403C>A	D83776	CCDS30715.1, CCDS30716.1	1p32.3	2014-03-05			ENSG00000134744	ENSG00000134744		"""Zinc fingers, CCHC domain containing"""	28981	protein-coding gene	gene with protein product	"""TUTase4"""	613692				8724849, 12239557	Standard	NM_015269		Approved	KIAA0191, PAPD3, TUT4	uc001cty.2	Q5TAX3	OTTHUMG00000008200	ENST00000371544.3:c.1388+1G>T	1.37:g.52956403C>A						ZCCHC11_uc001cty.2_Splice_Site_p.S463_splice|ZCCHC11_uc001ctz.2_Splice_Site_p.S463_splice|ZCCHC11_uc009vze.1_Splice_Site_p.S463_splice|ZCCHC11_uc009vzf.1_Splice_Site_p.S222_splice|ZCCHC11_uc001cub.2_Splice_Site_p.S463_splice|ZCCHC11_uc001cuc.2_Splice_Site	p.S463_splice	NM_015269	NP_056084	Q5TAX3	TUT4_HUMAN			8	1622	-								A2RRP0|B7Z8J5|D3DQ35|Q12764|Q5TAX2|Q5TAX4|Q86XZ3	Splice_Site	SNP	ENST00000371544.3	37	c.1388_splice	CCDS30716.1	.	.	.	.	.	.	.	.	.	.	C	28.2	4.901385	0.92035	.	.	ENSG00000134744	ENST00000257177;ENST00000371544;ENST00000528642;ENST00000484723	.	.	.	6.08	6.08	0.98989	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.2585	0.98435	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	ZCCHC11	52728991	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	6.477000	0.73591	2.894000	0.99253	0.655000	0.94253	.		PASS	0.294	ZCCHC11-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000022462.1	XM_038288	Intron	17	52	17	52	---	---	---	---
HSPB11	51668	broad.mit.edu	37	1	54395743	54395743	+	Missense_Mutation	SNP	C	C	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr1:54395743C>A	ENST00000194214.5	-	3	563	c.174G>T	c.(172-174)agG>agT	p.R58S	HSPB11_ENST00000489675.1_5'Flank|HSPB11_ENST00000371377.3_Missense_Mutation_p.R58S|HSPB11_ENST00000371378.2_Missense_Mutation_p.R58S|HSPB11_ENST00000371376.1_Missense_Mutation_p.R58S	NM_016126.2	NP_057210.2	Q9Y547	IFT25_HUMAN	heat shock protein family B (small), member 11	58					cell adhesion (GO:0007155)|heart development (GO:0007507)|left/right axis specification (GO:0070986)|lung development (GO:0030324)|protein transport (GO:0015031)|response to stress (GO:0006950)|skeletal system development (GO:0001501)|smoothened signaling pathway (GO:0007224)	centrosome (GO:0005813)|cilium (GO:0005929)|extracellular vesicular exosome (GO:0070062)|intraciliary transport particle B (GO:0030992)	metal ion binding (GO:0046872)	p.R58S(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|urinary_tract(1)	9						GCCTTTCAATCCTTACATGTT	0.303																																						uc001cwh.2																			1	Substitution - Missense(1)		lung(1)		0						c.(172-174)AGG>AGT		heat shock protein family B (small), member 11							95.0	88.0	90.0					1																	54395743		1797	4063	5860	SO:0001583	missense	51668				cell adhesion|response to stress			g.chr1:54395743C>A	AF100747	CCDS41341.1	1p32	2014-02-21	2008-06-24	2008-06-24	ENSG00000081870	ENSG00000081870		"""Intraflagellar transport homologs"", ""Heat shock proteins / HSPB"""	25019	protein-coding gene	gene with protein product	"""intraflagellar transport 25 homolog (Chlamydomonas)"""		"""chromosome 1 open reading frame 41"""	C1orf41		11042152, 19253336	Standard	NM_016126		Approved	HSPCO34, PP25, IFT25	uc001cwh.3	Q9Y547	OTTHUMG00000008408	ENST00000194214.5:c.174G>T	1.37:g.54395743C>A	ENSP00000194214:p.Arg58Ser					HSPB11_uc001cwi.1_Missense_Mutation_p.R58S	p.R58S	NM_016126	NP_057210	Q9Y547	HSB11_HUMAN			3	250	-			58					A6NG57|D3DQ45|Q9Y684	Missense_Mutation	SNP	ENST00000194214.5	37	c.174G>T	CCDS41341.1	.	.	.	.	.	.	.	.	.	.	C	9.875	1.200013	0.22121	.	.	ENSG00000081870	ENST00000194214;ENST00000371378;ENST00000371377;ENST00000371376	D;D;D;D	0.98249	-4.82;-4.82;-4.82;-4.82	5.96	3.11	0.35812	Coagulation factor 5/8 C-terminal type domain (1);Galactose-binding domain-like (1);	0.277125	0.39146	N	0.001444	D	0.93236	0.7845	N	0.08118	0	0.27964	N	0.936674	B;B	0.25772	0.134;0.003	B;B	0.32762	0.152;0.003	D	0.87051	0.2147	10	0.25751	T	0.34	-14.7948	7.9776	0.30164	0.0:0.749:0.0:0.251	.	58;58	A6NIR2;Q9Y547	.;HSB11_HUMAN	S	58	ENSP00000194214:R58S;ENSP00000360429:R58S;ENSP00000360428:R58S;ENSP00000360427:R58S	ENSP00000194214:R58S	R	-	3	2	HSPB11	54168331	0.997000	0.39634	0.999000	0.59377	0.821000	0.46438	0.708000	0.25719	0.427000	0.26145	0.591000	0.81541	AGG		PASS	0.303	HSPB11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000023114.1	NM_016126		48	104	48	104	---	---	---	---
C8A	731	broad.mit.edu	37	1	57340725	57340725	+	Missense_Mutation	SNP	G	G	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr1:57340725G>A	ENST00000361249.3	+	3	371	c.275G>A	c.(274-276)aGg>aAg	p.R92K		NM_000562.2	NP_000553.1	P07357	CO8A_HUMAN	complement component 8, alpha polypeptide	92					complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|complement activation, classical pathway (GO:0006958)|cytolysis (GO:0019835)|immune response (GO:0006955)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|membrane attack complex (GO:0005579)		p.R92K(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	43						ACTTGTGTAAGGCAAGCACAG	0.498																																						uc001cyo.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)|skin(1)	3						c.(274-276)AGG>AAG		complement component 8, alpha polypeptide							92.0	82.0	86.0					1																	57340725		2203	4300	6503	SO:0001583	missense	731				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	extracellular space|membrane attack complex		g.chr1:57340725G>A	M16974	CCDS606.1	1p32.2	2014-09-17			ENSG00000157131	ENSG00000157131		"""Complement system"""	1352	protein-coding gene	gene with protein product		120950					Standard	NM_000562		Approved		uc001cyo.2	P07357	OTTHUMG00000008306	ENST00000361249.3:c.275G>A	1.37:g.57340725G>A	ENSP00000354458:p.Arg92Lys						p.R92K	NM_000562	NP_000553	P07357	CO8A_HUMAN			3	407	+			92					A2RUI4|A2RUI5|Q13668|Q9H130	Missense_Mutation	SNP	ENST00000361249.3	37	c.275G>A	CCDS606.1	.	.	.	.	.	.	.	.	.	.	G	0.011	-1.697472	0.00725	.	.	ENSG00000157131	ENST00000361249	T	0.74842	-0.88	5.26	-6.39	0.01951	.	1.103820	0.06483	N	0.733250	T	0.58308	0.2113	L	0.60455	1.87	0.09310	N	1	B	0.18610	0.029	B	0.13407	0.009	T	0.48281	-0.9049	10	0.06891	T	0.86	0.0	3.6479	0.08192	0.4991:0.0864:0.2722:0.1422	.	92	P07357	CO8A_HUMAN	K	92	ENSP00000354458:R92K	ENSP00000354458:R92K	R	+	2	0	C8A	57113313	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-1.161000	0.03144	-0.845000	0.04179	-0.142000	0.14014	AGG		PASS	0.498	C8A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022890.1	NM_000562		16	16	16	16	---	---	---	---
DAB1	1600	broad.mit.edu	37	1	57602255	57602255	+	Silent	SNP	G	G	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr1:57602255G>A	ENST00000371231.1	-	3	301	c.267C>T	c.(265-267)atC>atT	p.I89I	DAB1_ENST00000371234.4_Silent_p.I89I|DAB1_ENST00000414851.2_Silent_p.I89I|DAB1_ENST00000420954.2_Silent_p.I89I|DAB1_ENST00000439789.2_Silent_p.I89I|DAB1_ENST00000485760.1_5'UTR|DAB1_ENST00000371236.2_Silent_p.I89I|DAB1_ENST00000371230.1_Silent_p.I89I			O75553	DAB1_HUMAN	Dab, reelin signal transducer, homolog 1 (Drosophila)	89	PID. {ECO:0000255|PROSITE- ProRule:PRU00148}.				adult walking behavior (GO:0007628)|cell-cell adhesion involved in neuronal-glial interactions involved in cerebral cortex radial glia guided migration (GO:0021813)|cerebellum structural organization (GO:0021589)|dendrite development (GO:0016358)|Golgi localization (GO:0051645)|lateral motor column neuron migration (GO:0097477)|midgut development (GO:0007494)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of axonogenesis (GO:0050771)|negative regulation of cell adhesion (GO:0007162)|negative regulation of JAK-STAT cascade (GO:0046426)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of protein kinase activity (GO:0045860)|radial glia guided migration of Purkinje cell (GO:0021942)|response to drug (GO:0042493)|small GTPase mediated signal transduction (GO:0007264)|ventral spinal cord development (GO:0021517)	apical part of cell (GO:0045177)|brush border (GO:0005903)|cytosol (GO:0005829)|membrane (GO:0016020)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|postsynaptic density (GO:0014069)		p.I89I(1)		central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(28)|ovary(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(5)	64						CTCCAAAGGAGATGGTTAAAA	0.378																																						uc001cys.1																			1	Substitution - coding silent(1)		lung(1)	skin(2)|ovary(1)	3						c.(265-267)ATC>ATT		disabled homolog 1							103.0	101.0	102.0					1																	57602255		2203	4300	6503	SO:0001819	synonymous_variant	1600				cell differentiation|nervous system development			g.chr1:57602255G>A	BC067445	CCDS607.1	1p32-p31	2013-10-03	2013-10-03		ENSG00000173406	ENSG00000173406			2661	protein-coding gene	gene with protein product		603448	"""disabled (Drosophila) homolog 1"", ""disabled homolog 1 (Drosophila)"", ""Dab, reelin signal transducer, homolog 1 (Drosophila)"", ""Dab reelin signal transducer 1"""			9790777	Standard	NM_021080		Approved		uc001cys.1	O75553	OTTHUMG00000008391	ENST00000371231.1:c.267C>T	1.37:g.57602255G>A						DAB1_uc001cyt.1_Silent_p.I89I|DAB1_uc001cyq.1_Silent_p.I89I|DAB1_uc001cyr.1_Silent_p.I89I|DAB1_uc009vzw.1_Silent_p.I89I|DAB1_uc009vzx.1_Silent_p.I89I	p.I89I	NM_021080	NP_066566	O75553	DAB1_HUMAN			6	941	-			89			PID.		A4FU90|B3KTG3|Q4LE59|Q5T6M6|Q5T6M9|Q5T835|Q5T836|Q5T837|Q6NWS9|Q6NWT0|Q6NWT1|Q9NYA8	Silent	SNP	ENST00000371231.1	37	c.267C>T																																																																																					PASS	0.378	DAB1-010	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000027962.1	NM_021080		14	57	14	57	---	---	---	---
FGGY	55277	broad.mit.edu	37	1	60073511	60073511	+	Missense_Mutation	SNP	G	G	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr1:60073511G>T	ENST00000303721.7	+	9	1114	c.940G>T	c.(940-942)Ggg>Tgg	p.G314W	FGGY_ENST00000371212.1_Missense_Mutation_p.G226W|FGGY_ENST00000371218.4_Missense_Mutation_p.G314W|FGGY_ENST00000474476.1_3'UTR|FGGY_ENST00000371210.1_Missense_Mutation_p.G15W	NM_018291.3	NP_060761.3	Q96C11	FGGY_HUMAN	FGGY carbohydrate kinase domain containing	314					carbohydrate metabolic process (GO:0005975)|cell death (GO:0008219)|neuron cellular homeostasis (GO:0070050)		kinase activity (GO:0016301)|phosphotransferase activity, alcohol group as acceptor (GO:0016773)	p.G314W(1)|p.G202W(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	22	all_cancers(7;7.36e-05)					AGGCGTCTGGGGGCCTTATTT	0.463																																						uc001czi.3																			2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(940-942)GGG>TGG		FGGY carbohydrate kinase domain containing							127.0	130.0	129.0					1																	60073511		2203	4300	6503	SO:0001583	missense	55277				carbohydrate metabolic process|cell death|neuron homeostasis		kinase activity|phosphotransferase activity, alcohol group as acceptor	g.chr1:60073511G>T		CCDS611.2, CCDS44155.1, CCDS58003.1, CCDS60155.1	1p32.1	2008-10-23			ENSG00000172456	ENSG00000172456			25610	protein-coding gene	gene with protein product		611370				17671248	Standard	NM_018291		Approved	FLJ10986	uc009wac.3	Q96C11	OTTHUMG00000008424	ENST00000303721.7:c.940G>T	1.37:g.60073511G>T	ENSP00000305922:p.Gly314Trp					FGGY_uc001czg.2_Missense_Mutation_p.G202W|FGGY_uc001czh.2_RNA|FGGY_uc009wac.2_Missense_Mutation_p.G314W|FGGY_uc001czj.3_Missense_Mutation_p.G313W|FGGY_uc001czk.3_Missense_Mutation_p.G202W|FGGY_uc001czl.3_Missense_Mutation_p.G226W|FGGY_uc001czm.3_Missense_Mutation_p.G15W	p.G314W	NM_018291	NP_060761	Q96C11	FGGY_HUMAN			9	1152	+	all_cancers(7;7.36e-05)		314					B1AK92|B1AK93|B1AK94|B2RDR8|D3DQ56|Q9HA63|Q9NV20	Missense_Mutation	SNP	ENST00000303721.7	37	c.940G>T	CCDS611.2	.	.	.	.	.	.	.	.	.	.	G	26.0	4.697054	0.88830	.	.	ENSG00000172456	ENST00000371218;ENST00000303721;ENST00000371212;ENST00000371210	D;D;D;D	0.91124	-2.79;-2.79;-2.79;-2.79	5.65	5.65	0.86999	Carbohydrate kinase, FGGY, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.97201	0.9085	H	0.96861	3.895	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;1.0	D	0.97887	1.0295	9	.	.	.	-12.5309	18.6545	0.91445	0.0:0.0:1.0:0.0	.	314;226;314;314	Q96C11-3;B1AK94;F2Z2V1;Q96C11	.;.;.;FGGY_HUMAN	W	314;314;226;15	ENSP00000360262:G314W;ENSP00000305922:G314W;ENSP00000360256:G226W;ENSP00000360254:G15W	.	G	+	1	0	FGGY	59846099	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	8.063000	0.89482	2.941000	0.99782	0.655000	0.94253	GGG		PASS	0.463	FGGY-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000023210.2	NM_001113411		30	93	30	93	---	---	---	---
INADL	10207	broad.mit.edu	37	1	62593659	62593659	+	Missense_Mutation	SNP	C	C	G			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr1:62593659C>G	ENST00000371158.2	+	40	5173	c.5059C>G	c.(5059-5061)Ctt>Gtt	p.L1687V	INADL_ENST00000472512.1_3'UTR	NM_176877.2	NP_795352	Q8NI35	INADL_HUMAN	InaD-like (Drosophila)	1687	PDZ 10. {ECO:0000255|PROSITE- ProRule:PRU00143}.				cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|intracellular signal transduction (GO:0035556)|tight junction assembly (GO:0070830)	apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|tight junction (GO:0005923)		p.L1687V(1)		breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(8)|liver(1)|lung(51)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)	103						CAGTGATGCCCTTGGAATCAG	0.428																																						uc001dab.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|skin(1)	4						c.(5059-5061)CTT>GTT		InaD-like							92.0	85.0	87.0					1																	62593659		1865	4107	5972	SO:0001583	missense	10207				intracellular signal transduction|tight junction assembly	apical plasma membrane|perinuclear region of cytoplasm|tight junction	protein binding	g.chr1:62593659C>G	AB044807	CCDS617.2	1p31	2008-02-05			ENSG00000132849	ENSG00000132849			28881	protein-coding gene	gene with protein product		603199				9280290, 11374908	Standard	NM_176877		Approved	Cipp, PATJ	uc001dab.3	Q8NI35	OTTHUMG00000008560	ENST00000371158.2:c.5059C>G	1.37:g.62593659C>G	ENSP00000360200:p.Leu1687Val					INADL_uc001dac.2_RNA|INADL_uc009wag.2_Missense_Mutation_p.L471V	p.L1687V	NM_176877	NP_795352	Q8NI35	INADL_HUMAN			40	5173	+			1687			PDZ 10.		O15249|O43742|O60833|Q5VUA5|Q5VUA6|Q5VUA7|Q5VUA8|Q5VUA9|Q5VUB0|Q8WU78|Q9H3N9	Missense_Mutation	SNP	ENST00000371158.2	37	c.5059C>G	CCDS617.2	.	.	.	.	.	.	.	.	.	.	C	26.6	4.753696	0.89753	.	.	ENSG00000132849	ENST00000371158	T	0.36157	1.27	5.8	5.8	0.92144	PDZ/DHR/GLGF (4);	0.000000	0.64402	D	0.000013	T	0.69133	0.3077	M	0.90019	3.08	0.80722	D	1	D	0.59767	0.986	D	0.71414	0.973	T	0.74890	-0.3510	10	0.87932	D	0	.	20.0589	0.97667	0.0:1.0:0.0:0.0	.	1687	Q8NI35	INADL_HUMAN	V	1687	ENSP00000360200:L1687V	ENSP00000360200:L1687V	L	+	1	0	INADL	62366247	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.719000	0.68462	2.732000	0.93576	0.650000	0.86243	CTT		PASS	0.428	INADL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000023639.2	NM_170605		21	64	21	64	---	---	---	---
KANK4	163782	broad.mit.edu	37	1	62718789	62718789	+	Missense_Mutation	SNP	C	C	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr1:62718789C>T	ENST00000371153.4	-	8	3010	c.2632G>A	c.(2632-2634)Gtt>Att	p.V878I	KANK4_ENST00000317477.4_Missense_Mutation_p.V16I|KANK4_ENST00000371150.1_Missense_Mutation_p.V234I|KANK4_ENST00000354381.3_Missense_Mutation_p.V250I	NM_181712.4	NP_859063.3	Q5T7N3	KANK4_HUMAN	KN motif and ankyrin repeat domains 4	878						cytoplasm (GO:0005737)		p.V878I(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(49)|ovary(3)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)	81						TTCCAGACAACAGCCATGTCT	0.498																																						uc001dah.3																			1	Substitution - Missense(1)		lung(1)	ovary(3)|skin(2)|lung(1)	6						c.(2632-2634)GTT>ATT		ankyrin repeat domain 38							182.0	176.0	178.0					1																	62718789		2203	4300	6503	SO:0001583	missense	163782							g.chr1:62718789C>T	AK096259	CCDS620.1	1p31.3	2013-10-11	2008-01-29	2008-01-29	ENSG00000132854	ENSG00000132854		"""KN motif and ankyrin repeat domain containing"", ""Ankyrin repeat domain containing"""	27263	protein-coding gene	gene with protein product		614612	"""ankyrin repeat domain 38"""	ANKRD38		17996375, 19554261	Standard	NM_181712		Approved	KIAA0172	uc001dah.4	Q5T7N3	OTTHUMG00000008971	ENST00000371153.4:c.2632G>A	1.37:g.62718789C>T	ENSP00000360195:p.Val878Ile					KANK4_uc001dai.3_Missense_Mutation_p.V250I|KANK4_uc001daf.3_Missense_Mutation_p.V16I|KANK4_uc001dag.3_Missense_Mutation_p.V234I	p.V878I	NM_181712	NP_859063	Q5T7N3	KANK4_HUMAN			8	3009	-			878			ANK 2.		B1ALP7|Q6P9A0|Q86T71|Q86VE6|Q8NAX3	Missense_Mutation	SNP	ENST00000371153.4	37	c.2632G>A	CCDS620.1	.	.	.	.	.	.	.	.	.	.	C	21.5	4.158785	0.78226	.	.	ENSG00000132854	ENST00000371153;ENST00000317477;ENST00000354381;ENST00000371150	T;T;T;T	0.62364	0.03;0.03;0.03;0.03	5.06	5.06	0.68205	Ankyrin repeat-containing domain (4);	0.000000	0.34652	N	0.003786	T	0.66046	0.2750	N	0.13299	0.325	0.49483	D	0.999796	D;P	0.89917	1.0;0.597	D;P	0.85130	0.997;0.678	T	0.66594	-0.5884	10	0.33141	T	0.24	-18.4793	18.6248	0.91333	0.0:1.0:0.0:0.0	.	250;878	Q5T7N3-2;Q5T7N3	.;KANK4_HUMAN	I	878;16;250;234	ENSP00000360195:V878I;ENSP00000321161:V16I;ENSP00000346352:V250I;ENSP00000360192:V234I	ENSP00000321161:V16I	V	-	1	0	KANK4	62491377	0.995000	0.38212	0.996000	0.52242	0.990000	0.78478	3.693000	0.54735	2.639000	0.89480	0.655000	0.94253	GTT		PASS	0.498	KANK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000024877.1	NM_181712		28	67	28	67	---	---	---	---
KANK4	163782	broad.mit.edu	37	1	62734158	62734158	+	Missense_Mutation	SNP	C	C	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr1:62734158C>T	ENST00000371153.4	-	5	2410	c.2032G>A	c.(2032-2034)Gag>Aag	p.E678K	KANK4_ENST00000371150.1_Missense_Mutation_p.E34K|KANK4_ENST00000354381.3_Missense_Mutation_p.E50K	NM_181712.4	NP_859063.3	Q5T7N3	KANK4_HUMAN	KN motif and ankyrin repeat domains 4	678						cytoplasm (GO:0005737)		p.E678K(1)|p.E678*(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(49)|ovary(3)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)	81						CTGGTCTCCTCACTTGAGGTG	0.562																																						uc001dah.3																			2	Substitution - Nonsense(1)|Substitution - Missense(1)		lung(2)	ovary(3)|skin(2)|lung(1)	6						c.(2032-2034)GAG>AAG		ankyrin repeat domain 38							81.0	71.0	74.0					1																	62734158		2203	4300	6503	SO:0001583	missense	163782							g.chr1:62734158C>T	AK096259	CCDS620.1	1p31.3	2013-10-11	2008-01-29	2008-01-29	ENSG00000132854	ENSG00000132854		"""KN motif and ankyrin repeat domain containing"", ""Ankyrin repeat domain containing"""	27263	protein-coding gene	gene with protein product		614612	"""ankyrin repeat domain 38"""	ANKRD38		17996375, 19554261	Standard	NM_181712		Approved	KIAA0172	uc001dah.4	Q5T7N3	OTTHUMG00000008971	ENST00000371153.4:c.2032G>A	1.37:g.62734158C>T	ENSP00000360195:p.Glu678Lys					KANK4_uc001dai.3_Missense_Mutation_p.E50K|KANK4_uc001dag.3_Missense_Mutation_p.E34K	p.E678K	NM_181712	NP_859063	Q5T7N3	KANK4_HUMAN			5	2409	-			678					B1ALP7|Q6P9A0|Q86T71|Q86VE6|Q8NAX3	Missense_Mutation	SNP	ENST00000371153.4	37	c.2032G>A	CCDS620.1	.	.	.	.	.	.	.	.	.	.	C	36	5.865492	0.97043	.	.	ENSG00000132854	ENST00000371153;ENST00000354381;ENST00000371150	T;T;T	0.60797	0.16;0.47;0.42	6.17	6.17	0.99709	.	0.000000	0.39985	N	0.001219	T	0.79621	0.4477	M	0.80183	2.485	0.80722	D	1	D;D	0.89917	1.0;0.998	D;D	0.87578	0.998;0.965	T	0.79381	-0.1827	10	0.66056	D	0.02	-30.1841	20.8794	0.99867	0.0:1.0:0.0:0.0	.	50;678	Q5T7N3-2;Q5T7N3	.;KANK4_HUMAN	K	678;50;34	ENSP00000360195:E678K;ENSP00000346352:E50K;ENSP00000360192:E34K	ENSP00000346352:E50K	E	-	1	0	KANK4	62506746	1.000000	0.71417	0.990000	0.47175	0.992000	0.81027	6.719000	0.74718	2.941000	0.99782	0.655000	0.94253	GAG		PASS	0.562	KANK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000024877.1	NM_181712		17	46	17	46	---	---	---	---
ROR1	4919	broad.mit.edu	37	1	64606046	64606046	+	Missense_Mutation	SNP	G	G	C			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr1:64606046G>C	ENST00000371079.1	+	6	1240	c.865G>C	c.(865-867)Gag>Cag	p.E289Q	ROR1_ENST00000482426.1_3'UTR|RP11-24J23.2_ENST00000424995.1_RNA|ROR1_ENST00000545203.1_5'UTR|ROR1_ENST00000371080.1_Missense_Mutation_p.E289Q	NM_005012.3	NP_005003.2	Q01973	ROR1_HUMAN	receptor tyrosine kinase-like orphan receptor 1	289	FZ. {ECO:0000255|PROSITE- ProRule:PRU00090}.				peptidyl-tyrosine phosphorylation (GO:0018108)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|Wnt-protein binding (GO:0017147)	p.E289Q(1)		breast(7)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(14)|lung(10)|ovary(6)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	51						CCCCCAGCCAGAGAGCCCAGA	0.463																																						uc001dbj.2																			1	Substitution - Missense(1)		lung(1)	ovary(6)|large_intestine(3)|breast(3)|stomach(2)|lung(2)|central_nervous_system(1)|skin(1)|kidney(1)	19						c.(865-867)GAG>CAG		receptor tyrosine kinase-like orphan receptor 1							70.0	74.0	73.0					1																	64606046		2203	4300	6503	SO:0001583	missense	4919				transmembrane receptor protein tyrosine kinase signaling pathway	cytoplasm|integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity|Wnt-protein binding	g.chr1:64606046G>C	M97675	CCDS626.1, CCDS41344.1	1p32-p31	2013-01-11			ENSG00000185483	ENSG00000185483		"""Immunoglobulin superfamily / I-set domain containing"""	10256	protein-coding gene	gene with protein product		602336		NTRKR1		1334494, 8875995	Standard	NM_001083592		Approved		uc001dbj.3	Q01973	OTTHUMG00000009022	ENST00000371079.1:c.865G>C	1.37:g.64606046G>C	ENSP00000360120:p.Glu289Gln					ROR1_uc001dbi.3_Missense_Mutation_p.E289Q|uc001dbl.2_Intron	p.E289Q	NM_005012	NP_005003	Q01973	ROR1_HUMAN			6	1264	+			289			FZ.|Extracellular (Potential).		Q5VVX6|Q66K77|Q92776	Missense_Mutation	SNP	ENST00000371079.1	37	c.865G>C	CCDS626.1	.	.	.	.	.	.	.	.	.	.	G	21.4	4.148357	0.78001	.	.	ENSG00000185483	ENST00000371080;ENST00000371079;ENST00000544776	T;T	0.77229	-1.08;-1.08	6.16	6.16	0.99307	Frizzled domain (2);Kringle (1);Kringle-like fold (1);	0.157403	0.29266	N	0.012649	T	0.61073	0.2318	N	0.25647	0.755	0.80722	D	1	B;P	0.40302	0.014;0.712	B;B	0.40199	0.127;0.322	T	0.60682	-0.7215	10	0.21014	T	0.42	.	20.8598	0.99761	0.0:0.0:1.0:0.0	.	289;289	Q01973;Q66K77	ROR1_HUMAN;.	Q	289;289;292	ENSP00000360121:E289Q;ENSP00000360120:E289Q	ENSP00000360120:E289Q	E	+	1	0	ROR1	64378634	1.000000	0.71417	0.976000	0.42696	0.939000	0.58152	9.835000	0.99442	2.937000	0.99478	0.650000	0.86243	GAG		PASS	0.463	ROR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025002.1	NM_005012		15	78	15	78	---	---	---	---
RAVER2	55225	broad.mit.edu	37	1	65243601	65243601	+	Missense_Mutation	SNP	G	G	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr1:65243601G>T	ENST00000294428.3	+	3	690	c.612G>T	c.(610-612)ttG>ttT	p.L204F	RAVER2_ENST00000371072.4_Missense_Mutation_p.L204F|RAVER2_ENST00000430964.2_5'Flank			Q9HCJ3	RAVR2_HUMAN	ribonucleoprotein, PTB-binding 2	204	RRM 2. {ECO:0000255|PROSITE- ProRule:PRU00176}.					cytoplasm (GO:0005737)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.L204F(1)		breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(6)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	24						TGGAGCTATTGGGTAGACAGT	0.413																																						uc001dbs.1																			1	Substitution - Missense(1)		lung(1)	large_intestine(1)	1						c.(610-612)TTG>TTT		ribonucleoprotein, PTB-binding 2							264.0	232.0	242.0					1																	65243601		1927	4129	6056	SO:0001583	missense	55225					cytoplasm|nucleus	nucleotide binding|RNA binding	g.chr1:65243601G>T	AB046799	CCDS41345.1	1p31.3	2013-02-12			ENSG00000162437	ENSG00000162437		"""RNA binding motif (RRM) containing"""	25577	protein-coding gene	gene with protein product		609953				16051233	Standard	NM_018211		Approved	KIAA1579, FLJ10770	uc001dbs.2	Q9HCJ3	OTTHUMG00000009102	ENST00000294428.3:c.612G>T	1.37:g.65243601G>T	ENSP00000294428:p.Leu204Phe					RAVER2_uc001dbt.1_Missense_Mutation_p.L83F|RAVER2_uc010opb.1_Missense_Mutation_p.L83F	p.L204F	NM_018211	NP_060681	Q9HCJ3	RAVR2_HUMAN			3	690	+			204			RRM 2.		Q6P141|Q9NPV7	Missense_Mutation	SNP	ENST00000294428.3	37	c.612G>T		.	.	.	.	.	.	.	.	.	.	G	15.94	2.981278	0.53827	.	.	ENSG00000162437	ENST00000371072;ENST00000294428	T;T	0.05855	3.38;3.38	5.54	4.61	0.57282	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.183303	0.38663	N	0.001609	T	0.09069	0.0224	M	0.71206	2.165	0.80722	D	1	D;D	0.67145	0.996;0.995	P;P	0.62089	0.898;0.836	T	0.07986	-1.0744	10	0.39692	T	0.17	-16.1262	5.7468	0.18124	0.0736:0.1397:0.6419:0.1448	.	204;204	Q9HCJ3;Q9HCJ3-2	RAVR2_HUMAN;.	F	204	ENSP00000360112:L204F;ENSP00000294428:L204F	ENSP00000294428:L204F	L	+	3	2	RAVER2	65016189	1.000000	0.71417	0.880000	0.34516	0.742000	0.42306	6.284000	0.72652	1.284000	0.44531	0.655000	0.94253	TTG		PASS	0.413	RAVER2-201	KNOWN	basic	protein_coding	protein_coding		NM_018211		56	183	56	183	---	---	---	---
DEPDC1	55635	broad.mit.edu	37	1	68947132	68947132	+	Silent	SNP	C	C	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr1:68947132C>A	ENST00000456315.2	-	9	2040	c.1926G>T	c.(1924-1926)acG>acT	p.T642T	DEPDC1_ENST00000370966.5_Silent_p.T358T|RP4-694A7.2_ENST00000425820.1_RNA	NM_001114120.1	NP_001107592.1	Q5TB30	DEP1A_HUMAN	DEP domain containing 1	642	Interaction with ZNF224.				intracellular signal transduction (GO:0035556)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	GTPase activator activity (GO:0005096)	p.T358T(1)|p.T642T(1)		endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	13				OV - Ovarian serous cystadenocarcinoma(397;7.21e-36)		CCAGTGACCTCGTACCCATTG	0.358																																						uc001dem.3																			2	Substitution - coding silent(2)		lung(2)		0						c.(1924-1926)ACG>ACT		DEP domain containing 1 isoform a							74.0	69.0	71.0					1																	68947132		2203	4300	6503	SO:0001819	synonymous_variant	55635				intracellular signal transduction|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	transcriptional repressor complex	GTPase activator activity|protein binding	g.chr1:68947132C>A	AK000361	CCDS644.1, CCDS44159.1	1p31.2	2008-08-19			ENSG00000024526	ENSG00000024526			22949	protein-coding gene	gene with protein product		612002					Standard	NM_001114120		Approved	DEP.8, FLJ20354, SDP35, DEPDC1A	uc001dem.4	Q5TB30	OTTHUMG00000009212	ENST00000456315.2:c.1926G>T	1.37:g.68947132C>A						DEPDC1_uc001dej.3_Silent_p.T10T|DEPDC1_uc001dek.3_RNA|DEPDC1_uc001del.3_Silent_p.T358T	p.T642T	NM_001114120	NP_001107592	Q5TB30	DEP1A_HUMAN		OV - Ovarian serous cystadenocarcinoma(397;7.21e-36)	9	2043	-			642			Interaction with ZNF224.		A8QXE0|A8QXE1|Q05DU3|Q5TB28|Q9H9I3|Q9NX21|Q9NXZ0	Silent	SNP	ENST00000456315.2	37	c.1926G>T	CCDS44159.1																																																																																				PASS	0.358	DEPDC1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000025514.2	NM_017779		11	41	11	41	---	---	---	---
LRRC7	57554	broad.mit.edu	37	1	70541817	70541817	+	Nonsense_Mutation	SNP	G	G	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr1:70541817G>T	ENST00000035383.5	+	22	4204	c.4174G>T	c.(4174-4176)Gag>Tag	p.E1392*	LRRC7_ENST00000310961.5_Nonsense_Mutation_p.E1350*|LRRC7_ENST00000415775.2_Nonsense_Mutation_p.E676*	NM_020794.2	NP_065845.1	Q96NW7	LRRC7_HUMAN	leucine rich repeat containing 7	1392						cell junction (GO:0030054)|cytoplasm (GO:0005737)|postsynaptic membrane (GO:0045211)		p.E1392*(1)		breast(11)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(3)|lung(81)|ovary(9)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	162						TCGCAGCCGGGAGCAGCAGCC	0.527																																						uc001dep.2																			1	Substitution - Nonsense(1)		lung(1)	ovary(9)|breast(2)|central_nervous_system(2)|liver(1)	14						c.(4174-4176)GAG>TAG		leucine rich repeat containing 7							67.0	63.0	65.0					1																	70541817		2203	4300	6503	SO:0001587	stop_gained	57554					centrosome|focal adhesion|nucleolus	protein binding	g.chr1:70541817G>T		CCDS645.1	1p31.1	2008-02-05			ENSG00000033122	ENSG00000033122			18531	protein-coding gene	gene with protein product		614453				12525888	Standard	NM_020794		Approved	KIAA1365, densin-180	uc001dep.3	Q96NW7	OTTHUMG00000059194	ENST00000035383.5:c.4174G>T	1.37:g.70541817G>T	ENSP00000035383:p.Glu1392*					LRRC7_uc009wbg.2_Nonsense_Mutation_p.E676*|LRRC7_uc001deq.2_Nonsense_Mutation_p.E586*	p.E1392*	NM_020794	NP_065845	Q96NW7	LRRC7_HUMAN			22	4204	+			1392					Q5VXC2|Q5VXC3|Q68D07|Q86VE8|Q8WX20|Q9P2I2	Nonsense_Mutation	SNP	ENST00000035383.5	37	c.4174G>T	CCDS645.1	.	.	.	.	.	.	.	.	.	.	G	51	17.422285	0.99886	.	.	ENSG00000033122	ENST00000310961;ENST00000035383;ENST00000415775;ENST00000370957	.	.	.	6.06	6.06	0.98353	.	0.727110	0.13256	N	0.401659	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06757	T	0.87	.	19.6279	0.95687	0.0:0.0:1.0:0.0	.	.	.	.	X	1350;1392;676;1168	.	ENSP00000035383:E1392X	E	+	1	0	LRRC7	70314405	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.592000	0.67543	2.880000	0.98712	0.650000	0.86243	GAG		PASS	0.527	LRRC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131261.1	NM_020794		16	53	16	53	---	---	---	---
ERICH3	127254	broad.mit.edu	37	1	75036891	75036891	+	Silent	SNP	A	A	C			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr1:75036891A>C	ENST00000326665.5	-	14	4721	c.4503T>G	c.(4501-4503)ccT>ccG	p.P1501P	C1orf173_ENST00000433746.2_5'UTR	NM_001002912.4	NP_001002912.4	Q5RHP9	ERIC3_HUMAN		1501								p.P1501P(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						CAGTGAAATCAGGCTTCACTG	0.507																																						uc001dgg.2																			1	Substitution - coding silent(1)		lung(1)	ovary(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)	5						c.(4501-4503)CCT>CCG		hypothetical protein LOC127254							191.0	184.0	186.0					1																	75036891		2203	4300	6503	SO:0001819	synonymous_variant	127254							g.chr1:75036891A>C																												ENST00000326665.5:c.4503T>G	1.37:g.75036891A>C							p.P1501P	NM_001002912	NP_001002912	Q5RHP9	CA173_HUMAN			14	4722	-			1501					Q68DL8|Q6GMR8|Q6ZSF9|Q8ND41	Silent	SNP	ENST00000326665.5	37	c.4503T>G	CCDS30755.1																																																																																				PASS	0.507	C1orf173-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026516.1			51	142	51	142	---	---	---	---
SLC44A5	204962	broad.mit.edu	37	1	75684269	75684269	+	Missense_Mutation	SNP	G	G	C			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr1:75684269G>C	ENST00000370855.5	-	17	1548	c.1435C>G	c.(1435-1437)Ctt>Gtt	p.L479V	SLC44A5_ENST00000535611.1_Missense_Mutation_p.L349V|SLC44A5_ENST00000370859.3_Missense_Mutation_p.L479V	NM_152697.4	NP_689910.2	Q8NCS7	CTL5_HUMAN	solute carrier family 44, member 5	479					glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylcholine biosynthetic process (GO:0006656)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.L479V(1)		kidney(1)|large_intestine(13)|lung(35)|ovary(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	61						GCACCAGCAAGGGCGCACTGA	0.428																																						uc001dgu.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(2)	4						c.(1435-1437)CTT>GTT		solute carrier family 44, member 5 isoform A							148.0	138.0	141.0					1																	75684269		2203	4300	6503	SO:0001583	missense	204962					integral to membrane|plasma membrane	choline transmembrane transporter activity	g.chr1:75684269G>C	BC034580	CCDS667.1, CCDS44164.1	1p31.1	2013-05-22			ENSG00000137968	ENSG00000137968		"""Solute carriers"""	28524	protein-coding gene	gene with protein product						15715662	Standard	NM_152697		Approved	MGC34032, CTL5	uc001dgu.3	Q8NCS7	OTTHUMG00000009721	ENST00000370855.5:c.1435C>G	1.37:g.75684269G>C	ENSP00000359892:p.Leu479Val					SLC44A5_uc001dgt.2_Missense_Mutation_p.L479V|SLC44A5_uc001dgs.2_Missense_Mutation_p.L437V|SLC44A5_uc001dgr.2_Missense_Mutation_p.L437V|SLC44A5_uc010oqz.1_Missense_Mutation_p.L518V|SLC44A5_uc010ora.1_Missense_Mutation_p.L473V|SLC44A5_uc010orb.1_Missense_Mutation_p.L349V	p.L479V	NM_152697	NP_689910	Q8NCS7	CTL5_HUMAN			17	1579	-			479			Helical; (Potential).		B5MCU3|Q4G0K0|Q8NA44|Q8NB86	Missense_Mutation	SNP	ENST00000370855.5	37	c.1435C>G	CCDS667.1	.	.	.	.	.	.	.	.	.	.	G	21.0	4.076500	0.76415	.	.	ENSG00000137968	ENST00000370859;ENST00000536707;ENST00000370855;ENST00000535611;ENST00000535790	T;T;T	0.21361	2.01;2.01;2.01	5.6	5.6	0.85130	.	0.058335	0.64402	D	0.000001	T	0.32793	0.0841	L	0.58969	1.84	0.80722	D	1	D;D;D;D;D	0.60575	0.988;0.988;0.988;0.984;0.984	P;P;D;P;P	0.65140	0.85;0.896;0.932;0.833;0.833	T	0.00492	-1.1707	10	0.25106	T	0.35	-20.8306	19.9938	0.97376	0.0:0.0:1.0:0.0	.	473;518;479;479;518	B7Z5Y4;B7Z470;Q8NCS7;Q8NCS7-2;F5GYS0	.;.;CTL5_HUMAN;.;.	V	479;518;479;349;472	ENSP00000359896:L479V;ENSP00000359892:L479V;ENSP00000443090:L349V	ENSP00000359892:L479V	L	-	1	0	SLC44A5	75456857	1.000000	0.71417	1.000000	0.80357	0.539000	0.34962	7.978000	0.88095	2.814000	0.96858	0.655000	0.94253	CTT		PASS	0.428	SLC44A5-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000026921.1	NM_152697		40	110	40	110	---	---	---	---
AK5	26289	broad.mit.edu	37	1	77759493	77759493	+	Nonsense_Mutation	SNP	C	C	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr1:77759493C>A	ENST00000354567.2	+	3	526	c.263C>A	c.(262-264)tCa>tAa	p.S88*	AK5_ENST00000317704.4_Intron|AK5_ENST00000344720.5_Nonsense_Mutation_p.S62*	NM_174858.2	NP_777283.1	Q9Y6K8	KAD5_HUMAN	adenylate kinase 5	88					ADP biosynthetic process (GO:0006172)|ATP metabolic process (GO:0046034)|dADP biosynthetic process (GO:0006173)|nucleobase-containing small molecule interconversion (GO:0015949)|nucleobase-containing small molecule metabolic process (GO:0055086)|nucleoside diphosphate phosphorylation (GO:0006165)|nucleoside triphosphate biosynthetic process (GO:0009142)|pyrimidine ribonucleotide biosynthetic process (GO:0009220)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|microtubule organizing center (GO:0005815)	adenylate kinase activity (GO:0004017)|ATP binding (GO:0005524)|nucleoside diphosphate kinase activity (GO:0004550)|nucleoside kinase activity (GO:0019206)	p.S88*(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(27)|prostate(1)|skin(2)|stomach(1)	40						CCTGAAAACTCAAACTTTCCA	0.388																																						uc001dhn.2																			1	Substitution - Nonsense(1)		lung(1)	skin(1)	1						c.(262-264)TCA>TAA		adenylate kinase 5 isoform 1							64.0	66.0	65.0					1																	77759493		2203	4300	6503	SO:0001587	stop_gained	26289				ADP biosynthetic process|ATP metabolic process|dADP biosynthetic process|nucleobase, nucleoside and nucleotide interconversion|pyrimidine ribonucleotide biosynthetic process|signal transduction	centrosome|cytosol	adenylate kinase activity|ATP binding|cAMP-dependent protein kinase regulator activity|nucleoside kinase activity	g.chr1:77759493C>A	AF062595	CCDS675.1, CCDS676.1	1p31	2008-02-05			ENSG00000154027	ENSG00000154027		"""Adenylate kinases"""	365	protein-coding gene	gene with protein product		608009				10215863	Standard	NM_012093		Approved		uc001dhn.3	Q9Y6K8	OTTHUMG00000009796	ENST00000354567.2:c.263C>A	1.37:g.77759493C>A	ENSP00000346577:p.Ser88*					AK5_uc001dho.2_Nonsense_Mutation_p.S62*|AK5_uc001dhm.1_Intron	p.S88*	NM_174858	NP_777283	Q9Y6K8	KAD5_HUMAN			3	520	+			88					Q5U622|Q6FH66|Q7Z4T5|Q86YS0|Q8N464|Q96EC9	Nonsense_Mutation	SNP	ENST00000354567.2	37	c.263C>A	CCDS675.1	.	.	.	.	.	.	.	.	.	.	C	47	13.295205	0.99733	.	.	ENSG00000154027	ENST00000354567;ENST00000344720;ENST00000478407	.	.	.	5.28	2.38	0.29361	.	0.503952	0.19663	N	0.108925	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-4.9332	6.1804	0.20468	0.0:0.6494:0.134:0.2167	.	.	.	.	X	88;62;62	.	ENSP00000341430:S62X	S	+	2	0	AK5	77532081	0.971000	0.33674	0.995000	0.50966	0.978000	0.69477	2.987000	0.49378	0.741000	0.32674	0.561000	0.74099	TCA		PASS	0.388	AK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026993.4	NM_174858		18	54	18	54	---	---	---	---
ELTD1	64123	broad.mit.edu	37	1	79383371	79383371	+	Missense_Mutation	SNP	G	G	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr1:79383371G>T	ENST00000370742.3	-	12	1760	c.1697C>A	c.(1696-1698)aCc>aAc	p.T566N		NM_022159.3	NP_071442.2	Q9HBW9	ELTD1_HUMAN	EGF, latrophilin and seven transmembrane domain containing 1	566					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)	p.T566N(1)		NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(45)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	69				COAD - Colon adenocarcinoma(225;0.0905)|Colorectal(170;0.103)|all cancers(265;0.105)|Epithelial(280;0.148)		GTTGTTTTCGGTGCTAAGCCA	0.274																																						uc001diq.3																			1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(1696-1698)ACC>AAC		EGF, latrophilin and seven transmembrane domain							58.0	56.0	57.0					1																	79383371		1807	4071	5878	SO:0001583	missense	64123				neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity	g.chr1:79383371G>T	AF192403	CCDS41352.1	1p33-p32	2014-08-08			ENSG00000162618	ENSG00000162618		"""-"", ""GPCR / Class B : Orphans"""	20822	protein-coding gene	gene with protein product						11050079	Standard	NM_022159		Approved	ETL	uc001diq.4	Q9HBW9	OTTHUMG00000009738	ENST00000370742.3:c.1697C>A	1.37:g.79383371G>T	ENSP00000359778:p.Thr566Asn						p.T566N	NM_022159	NP_071442	Q9HBW9	ELTD1_HUMAN		COAD - Colon adenocarcinoma(225;0.0905)|Colorectal(170;0.103)|all cancers(265;0.105)|Epithelial(280;0.148)	12	1853	-			566			Extracellular (Potential).		B1AR71|Q5KU34	Missense_Mutation	SNP	ENST00000370742.3	37	c.1697C>A	CCDS41352.1	.	.	.	.	.	.	.	.	.	.	G	23.2	4.390974	0.82902	.	.	ENSG00000162618	ENST00000370742;ENST00000401034	T;T	0.41400	1.0;1.0	5.74	5.74	0.90152	GPCR, family 2-like (1);	0.000000	0.85682	D	0.000000	T	0.47135	0.1429	L	0.31845	0.965	0.80722	D	1	D	0.71674	0.998	D	0.75484	0.986	T	0.22941	-1.0202	9	.	.	.	.	19.918	0.97070	0.0:0.0:1.0:0.0	.	566	Q9HBW9	ELTD1_HUMAN	N	566;24	ENSP00000359778:T566N;ENSP00000383813:T24N	.	T	-	2	0	ELTD1	79155959	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	9.476000	0.97823	2.716000	0.92895	0.561000	0.74099	ACC		PASS	0.274	ELTD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026859.1	NM_022159		10	41	10	41	---	---	---	---
CLCA2	9635	broad.mit.edu	37	1	86919105	86919105	+	Silent	SNP	C	C	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr1:86919105C>A	ENST00000370565.4	+	13	2371	c.2209C>A	c.(2209-2211)Cga>Aga	p.R737R	CLCA2_ENST00000498802.1_3'UTR	NM_006536.5	NP_006527.1	Q9UQC9	CLCA2_HUMAN	chloride channel accessory 2	737					cell adhesion (GO:0007155)|transport (GO:0006810)	cell junction (GO:0030054)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	chloride channel activity (GO:0005254)|ligand-gated ion channel activity (GO:0015276)	p.R737R(1)		NS(2)|breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(18)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	42		Lung NSC(277;0.238)		all cancers(265;0.0233)|Epithelial(280;0.0452)		TGAGGAGGAGCGAAAGTGGGG	0.448																																					Melanoma(157;1000 1898 5363 5664 48018)|Ovarian(88;135 1366 2838 28875 34642)	uc001dlr.3																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|breast(1)|skin(1)	3						c.(2209-2211)CGA>AGA		chloride channel accessory 2 precursor							67.0	71.0	70.0					1																	86919105		2203	4300	6503	SO:0001819	synonymous_variant	9635				cell adhesion	basal plasma membrane|cell junction|extracellular region|integral to plasma membrane	chloride channel activity	g.chr1:86919105C>A		CCDS708.1	1p22.3	2012-02-26	2009-01-29		ENSG00000137975	ENSG00000137975			2016	protein-coding gene	gene with protein product		604003	"""chloride channel, calcium activated, family member 2"", ""chloride channel regulator 2"""				Standard	NM_006536		Approved	CLCRG2	uc001dlr.4	Q9UQC9	OTTHUMG00000010256	ENST00000370565.4:c.2209C>A	1.37:g.86919105C>A							p.R737R	NM_006536	NP_006527	Q9UQC9	CLCA2_HUMAN		all cancers(265;0.0233)|Epithelial(280;0.0452)	13	2371	+		Lung NSC(277;0.238)	737			Extracellular (Potential).		A8K2T3|Q9Y6N2	Silent	SNP	ENST00000370565.4	37	c.2209C>A	CCDS708.1																																																																																				PASS	0.448	CLCA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000028284.1	NM_006536		14	75	14	75	---	---	---	---
PKN2	5586	broad.mit.edu	37	1	89279243	89279243	+	Silent	SNP	G	G	T	rs368655957		TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr1:89279243G>T	ENST00000370521.3	+	16	2465	c.2106G>T	c.(2104-2106)ctG>ctT	p.L702L	PKN2_ENST00000544045.1_Silent_p.L376L|PKN2_ENST00000370505.3_Silent_p.L545L|PKN2_ENST00000370513.5_Silent_p.L654L	NM_006256.2	NP_006247.1	Q16513	PKN2_HUMAN	protein kinase N2	702	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				apical junction assembly (GO:0043297)|apoptotic process (GO:0006915)|cell adhesion (GO:0007155)|cell cycle (GO:0007049)|cell division (GO:0051301)|epithelial cell migration (GO:0010631)|positive regulation of cytokinesis (GO:0032467)|positive regulation of mitotic cell cycle (GO:0045931)|protein phosphorylation (GO:0006468)|regulation of cell motility (GO:2000145)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)	apical junction complex (GO:0043296)|centrosome (GO:0005813)|cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|lamellipodium (GO:0030027)|membrane (GO:0016020)|midbody (GO:0030496)|nucleus (GO:0005634)	ATP binding (GO:0005524)|histone deacetylase binding (GO:0042826)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|protein kinase C activity (GO:0004697)|protein serine/threonine kinase activity (GO:0004674)	p.L702L(1)		breast(2)|endometrium(3)|kidney(3)|large_intestine(8)|lung(15)|prostate(1)|skin(1)	33		Lung NSC(277;0.123)		all cancers(265;0.0136)|Epithelial(280;0.0301)		TTTACAGCCTGATGTGTGAAA	0.269																																						uc001dmn.2																			1	Substitution - coding silent(1)		lung(1)	large_intestine(1)|lung(1)|skin(1)	3						c.(2104-2106)CTG>CTT		protein kinase N2		G		0,3598		0,0,1799	73.0	67.0	69.0		2106	1.5	1.0	1		69	1,8137		0,1,4068	no	coding-synonymous	PKN2	NM_006256.2		0,1,5867	TT,TG,GG		0.0123,0.0,0.0085		702/985	89279243	1,11735	1799	4069	5868	SO:0001819	synonymous_variant	5586				signal transduction	cytoplasm	ATP binding|histone deacetylase binding|protein kinase C activity	g.chr1:89279243G>T	U33052	CCDS714.1	1p22	2014-04-23	2004-07-01	2004-07-01	ENSG00000065243	ENSG00000065243			9406	protein-coding gene	gene with protein product	"""cardiolipin-activated protein kinase Pak2"""	602549	"""protein kinase C-like 2"""	PRKCL2		7988719, 7851406	Standard	NM_006256		Approved	PRK2, Pak-2, STK7	uc001dmn.3	Q16513	OTTHUMG00000010074	ENST00000370521.3:c.2106G>T	1.37:g.89279243G>T						PKN2_uc010osp.1_Silent_p.L686L|PKN2_uc010osq.1_Silent_p.L545L|PKN2_uc009wcv.2_Silent_p.L654L|PKN2_uc010osr.1_Silent_p.L367L	p.L702L	NM_006256	NP_006247	Q16513	PKN2_HUMAN		all cancers(265;0.0136)|Epithelial(280;0.0301)	16	2448	+		Lung NSC(277;0.123)	702			Protein kinase.		B4DQ21|B4DTP5|B4DVG1|D3DT24|Q08AF4|Q9H1W4	Silent	SNP	ENST00000370521.3	37	c.2106G>T	CCDS714.1																																																																																				PASS	0.269	PKN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027828.3	NM_006256		24	82	24	82	---	---	---	---
LRRC8B	23507	broad.mit.edu	37	1	90049959	90049959	+	Missense_Mutation	SNP	A	A	G			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr1:90049959A>G	ENST00000330947.2	+	5	2110	c.1750A>G	c.(1750-1752)Atg>Gtg	p.M584V	LRRC8B_ENST00000358200.4_Missense_Mutation_p.M584V|LRRC8B_ENST00000439853.1_Missense_Mutation_p.M584V|RP5-1007M22.2_ENST00000443562.1_RNA	NM_001134476.1	NP_001127948.1	Q6P9F7	LRC8B_HUMAN	leucine rich repeat containing 8 family, member B	584					ion transport (GO:0006811)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.M584V(1)		breast(1)|central_nervous_system(1)|endometrium(6)|kidney(5)|large_intestine(2)|lung(5)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	26		all_lung(203;0.17)		all cancers(265;0.00515)|Epithelial(280;0.0241)		CTTGAAAAAGATGGTCAATCT	0.443																																						uc001dni.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(1750-1752)ATG>GTG		leucine rich repeat containing 8 family, member							54.0	54.0	54.0					1																	90049959		2203	4300	6503	SO:0001583	missense	23507					integral to membrane		g.chr1:90049959A>G	AF385436	CCDS724.1	1p22.2	2008-02-05			ENSG00000197147	ENSG00000197147			30692	protein-coding gene	gene with protein product	"""T cell activation leucine repeat rich protein"""	612888				9039502	Standard	NM_015350		Approved	TA-LRRP, KIAA0231	uc001dni.3	Q6P9F7	OTTHUMG00000010129	ENST00000330947.2:c.1750A>G	1.37:g.90049959A>G	ENSP00000332674:p.Met584Val					LRRC8B_uc001dnh.2_Missense_Mutation_p.M584V|LRRC8B_uc001dnj.2_Missense_Mutation_p.M584V	p.M584V	NM_001134476	NP_001127948	Q6P9F7	LRC8B_HUMAN		all cancers(265;0.00515)|Epithelial(280;0.0241)	7	2257	+		all_lung(203;0.17)	584					D3DT28|Q6UY21|Q8N106|Q92627	Missense_Mutation	SNP	ENST00000330947.2	37	c.1750A>G	CCDS724.1	.	.	.	.	.	.	.	.	.	.	A	8.885	0.952488	0.18431	.	.	ENSG00000197147	ENST00000330947;ENST00000358200;ENST00000439853	T;T;T	0.00958	5.5;5.5;5.5	5.31	4.1	0.47936	.	0.130190	0.52532	D	0.000069	T	0.00468	0.0015	L	0.52126	1.63	0.35391	D	0.790758	B	0.10296	0.003	B	0.12156	0.007	T	0.50693	-0.8798	9	.	.	.	.	7.6605	0.28400	0.7015:0.1794:0.0:0.119	.	584	Q6P9F7	LRC8B_HUMAN	V	584	ENSP00000332674:M584V;ENSP00000350933:M584V;ENSP00000400704:M584V	.	M	+	1	0	LRRC8B	89822547	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.423000	0.44705	2.127000	0.65507	0.533000	0.62120	ATG		PASS	0.443	LRRC8B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000028008.1	NM_015350		16	39	16	39	---	---	---	---
BRDT	676	broad.mit.edu	37	1	92441951	92441951	+	Missense_Mutation	SNP	G	G	C			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr1:92441951G>C	ENST00000362005.3	+	6	992	c.574G>C	c.(574-576)Gta>Cta	p.V192L	BRDT_ENST00000370389.2_Missense_Mutation_p.V119L|BRDT_ENST00000399546.2_Missense_Mutation_p.V192L|BRDT_ENST00000394530.3_Missense_Mutation_p.V146L|BRDT_ENST00000402388.1_Missense_Mutation_p.V192L	NM_001242805.1	NP_001229734	Q58F21	BRDT_HUMAN	bromodomain, testis-specific	192					cell differentiation (GO:0030154)|chromatin remodeling (GO:0006338)|histone displacement (GO:0001207)|male meiosis (GO:0007140)|male meiosis I (GO:0007141)|mRNA processing (GO:0006397)|positive regulation of transcription during meiosis (GO:0051039)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	histone binding (GO:0042393)|lysine-acetylated histone binding (GO:0070577)|transcription coactivator activity (GO:0003713)	p.V192L(1)		breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(24)|ovary(1)|prostate(4)|skin(2)|stomach(2)|urinary_tract(2)	56		all_lung(203;0.00531)|Lung NSC(277;0.0194)		all cancers(265;0.0228)|Epithelial(280;0.133)		CTTGAACGTGGTACAGGGAGC	0.373																																						uc001dok.3																			1	Substitution - Missense(1)		lung(1)	stomach(2)|ovary(1)|lung(1)	4						c.(574-576)GTA>CTA		testis-specific bromodomain protein							75.0	72.0	73.0					1																	92441951		2203	4300	6503	SO:0001583	missense	676				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein serine/threonine kinase activity|transcription coactivator activity	g.chr1:92441951G>C	AF019085	CCDS735.1, CCDS55615.1, CCDS55616.1, CCDS72820.1	1p22.1	2010-12-23			ENSG00000137948	ENSG00000137948			1105	protein-coding gene	gene with protein product	"""cancer/testis antigen 9"""	602144				9367677	Standard	NM_001726		Approved	BRD6, CT9	uc010osz.2	Q58F21	OTTHUMG00000010113	ENST00000362005.3:c.574G>C	1.37:g.92441951G>C	ENSP00000354568:p.Val192Leu					BRDT_uc001dol.3_Missense_Mutation_p.V192L|BRDT_uc010osz.1_Missense_Mutation_p.V196L|BRDT_uc009wdf.2_Missense_Mutation_p.V119L|BRDT_uc010ota.1_Missense_Mutation_p.V146L|BRDT_uc010otb.1_Missense_Mutation_p.V146L|BRDT_uc001dom.3_Missense_Mutation_p.V192L	p.V192L	NM_207189	NP_997072	Q58F21	BRDT_HUMAN		all cancers(265;0.0228)|Epithelial(280;0.133)	5	923	+		all_lung(203;0.00531)|Lung NSC(277;0.0194)	192					A6NF68|B7Z811|B7Z890|B7ZAX7|D3DT32|O14789|Q05DQ4|Q6P5T1|Q7Z4A6|Q8IWI6	Missense_Mutation	SNP	ENST00000362005.3	37	c.574G>C	CCDS735.1	.	.	.	.	.	.	.	.	.	.	G	9.470	1.095503	0.20471	.	.	ENSG00000137948	ENST00000362005;ENST00000370389;ENST00000399546;ENST00000539070;ENST00000394530;ENST00000440509;ENST00000426141;ENST00000402388	T;T;T;T;T;T;T	0.19105	3.3;3.31;3.3;3.37;2.17;2.99;3.3	4.81	0.966	0.19667	.	0.746121	0.12567	N	0.457708	T	0.02929	0.0087	N	0.17474	0.49	0.09310	N	1	B;B;B;B	0.09022	0.001;0.002;0.0;0.001	B;B;B;B	0.06405	0.001;0.001;0.001;0.002	T	0.45381	-0.9265	10	0.25106	T	0.35	0.8931	3.5359	0.07794	0.2816:0.0:0.5308:0.1876	.	146;146;196;192	B7ZAX7;B7Z811;B7Z890;Q58F21	.;.;.;BRDT_HUMAN	L	192;119;192;192;146;192;192;192	ENSP00000354568:V192L;ENSP00000359416:V119L;ENSP00000387822:V192L;ENSP00000378038:V146L;ENSP00000416714:V192L;ENSP00000404969:V192L;ENSP00000384051:V192L	ENSP00000354568:V192L	V	+	1	0	BRDT	92214539	0.001000	0.12720	0.001000	0.08648	0.040000	0.13550	0.200000	0.17257	0.084000	0.17077	0.555000	0.69702	GTA		PASS	0.373	BRDT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027980.2	NM_207189		20	69	20	69	---	---	---	---
ABCA4	24	broad.mit.edu	37	1	94502905	94502905	+	Splice_Site	SNP	C	C	A	rs529982548		TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr1:94502905C>A	ENST00000370225.3	-	25	3695	c.3609G>T	c.(3607-3609)ggG>ggT	p.G1203G		NM_000350.2	NP_000341.2	P78363	ABCA4_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 4	1203					phospholipid transfer to membrane (GO:0006649)|photoreceptor cell maintenance (GO:0045494)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|transmembrane transport (GO:0055085)|transport (GO:0006810)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|photoreceptor disc membrane (GO:0097381)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|phospholipid-translocating ATPase activity (GO:0004012)|transporter activity (GO:0005215)	p.G1203G(1)		NS(2)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(10)|large_intestine(25)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(10)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	147		all_lung(203;0.000757)|Lung NSC(277;0.00335)		all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171)		CATTTACATCCCCTAGGACAA	0.443																																						uc001dqh.2																			1	Substitution - coding silent(1)		lung(1)	ovary(4)|skin(4)|central_nervous_system(2)|upper_aerodigestive_tract(1)|breast(1)	12						c.(3607-3609)GGG>GGT		ATP-binding cassette, sub-family A member 4							74.0	73.0	73.0					1																	94502905		2203	4300	6503	SO:0001630	splice_region_variant	24				phototransduction, visible light|visual perception	integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr1:94502905C>A	U88667	CCDS747.1	1p22	2013-01-23			ENSG00000198691	ENSG00000198691		"""ATP binding cassette transporters / subfamily A"""	34	protein-coding gene	gene with protein product	"""Stargardt disease"""	601691	"""ATP-binding cassette transporter, retinal-specific"""	STGD1, ABCR, RP19, STGD		9490294	Standard	NM_000350		Approved	FFM, ARMD2, CORD3	uc001dqh.3	P78363	OTTHUMG00000010622	ENST00000370225.3:c.3608-1G>T	1.37:g.94502905C>A							p.G1203G	NM_000350	NP_000341	P78363	ABCA4_HUMAN		all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171)	25	3713	-		all_lung(203;0.000757)|Lung NSC(277;0.00335)	1203			Cytoplasmic.		O15112|O60438|O60915|Q0QD48|Q4LE31	Silent	SNP	ENST00000370225.3	37	c.3609G>T	CCDS747.1																																																																																				PASS	0.443	ABCA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029320.1	NM_000350	Silent	28	68	28	68	---	---	---	---
RWDD3	25950	broad.mit.edu	37	1	95709926	95709926	+	Missense_Mutation	SNP	C	C	G			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr1:95709926C>G	ENST00000370202.4	+	2	321	c.245C>G	c.(244-246)aCt>aGt	p.T82S	RP11-57H12.5_ENST00000444665.1_RNA|RWDD3_ENST00000263893.6_Missense_Mutation_p.T82S|RWDD3_ENST00000495272.1_3'UTR|RWDD3_ENST00000429514.2_Missense_Mutation_p.T67S|RP11-57H12.6_ENST00000604534.1_3'UTR	NM_001199682.1|NM_015485.4	NP_001186611.1|NP_056300	Q9Y3V2	RWDD3_HUMAN	RWD domain containing 3	82	RWD. {ECO:0000255|PROSITE- ProRule:PRU00179}.				negative regulation of NF-kappaB transcription factor activity (GO:0032088)|positive regulation of hypoxia-inducible factor-1alpha signaling pathway (GO:1902073)|positive regulation of protein sumoylation (GO:0033235)	cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.T82S(1)		kidney(1)|large_intestine(2)|lung(6)|ovary(1)	10		all_epithelial(167;5.99e-05)|all_lung(203;0.00168)|Lung NSC(277;0.00769)		all cancers(265;0.112)|Epithelial(280;0.229)		CAGTGTGTGACTGTGAAAGAG	0.458																																						uc009wdu.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(244-246)ACT>AGT		RWD domain containing 3 isoform a							117.0	111.0	113.0					1																	95709926		1930	4139	6069	SO:0001583	missense	25950					cytoplasm|nucleus	protein binding	g.chr1:95709926C>G	BC010936	CCDS41357.1, CCDS44177.1	1p22.1	2012-12-07			ENSG00000122481	ENSG00000122481			21393	protein-coding gene	gene with protein product		615875				11230166	Standard	NM_015485		Approved	DKFZP566K023	uc009wdu.3	Q9Y3V2	OTTHUMG00000010910	ENST00000370202.4:c.245C>G	1.37:g.95709926C>G	ENSP00000359221:p.Thr82Ser					RWDD3_uc001drd.3_3'UTR|RWDD3_uc010oty.1_Missense_Mutation_p.T67S|RWDD3_uc009wdt.2_Missense_Mutation_p.T82S|RWDD3_uc001drf.3_Missense_Mutation_p.T82S|RWDD3_uc001drh.3_Missense_Mutation_p.T67S|RWDD3_uc009wdv.2_Intron|RWDD3_uc001drg.3_RNA|RWDD3_uc001dri.3_Missense_Mutation_p.T82S	p.T82S	NM_015485	NP_056300	Q9Y3V2	RWDD3_HUMAN		all cancers(265;0.112)|Epithelial(280;0.229)	2	321	+		all_epithelial(167;5.99e-05)|all_lung(203;0.00168)|Lung NSC(277;0.00769)	82			RWD.		A6NP44|A8K9F0|C9J9L7|C9JI45|Q08AJ7|Q6FID3|Q9BX35	Missense_Mutation	SNP	ENST00000370202.4	37	c.245C>G	CCDS41357.1	.	.	.	.	.	.	.	.	.	.	C	1.607	-0.524923	0.04141	.	.	ENSG00000122481	ENST00000370202;ENST00000429514;ENST00000263893	T;T;T	0.20881	2.04;2.04;2.04	5.27	0.883	0.19177	Ubiquitin-conjugating enzyme/RWD-like (2);RWD domain (3);	0.636464	0.15745	N	0.246711	T	0.03695	0.0105	L	0.39898	1.24	0.09310	N	1	B;B;B;B;B	0.30146	0.139;0.0;0.029;0.27;0.023	B;B;B;B;B	0.24974	0.056;0.007;0.043;0.057;0.025	T	0.41016	-0.9532	10	0.09084	T	0.74	1.9709	5.9005	0.18964	0.403:0.4317:0.0:0.1653	.	67;82;82;67;82	E7ES73;Q9Y3V2;D3DT49;Q9Y3V2-3;Q9Y3V2-2	.;RWDD3_HUMAN;.;.;.	S	82;67;82	ENSP00000359221:T82S;ENSP00000397398:T67S;ENSP00000263893:T82S	ENSP00000263893:T82S	T	+	2	0	RWDD3	95482514	0.000000	0.05858	0.126000	0.21872	0.427000	0.31564	0.889000	0.28282	0.657000	0.30906	0.650000	0.86243	ACT		PASS	0.458	RWDD3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030078.1	NM_015485		26	88	26	88	---	---	---	---
VCAM1	7412	broad.mit.edu	37	1	101190441	101190441	+	Missense_Mutation	SNP	T	T	C			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr1:101190441T>C	ENST00000294728.2	+	4	1024	c.923T>C	c.(922-924)gTt>gCt	p.V308A	VCAM1_ENST00000370115.1_Missense_Mutation_p.V308A|VCAM1_ENST00000370119.4_Missense_Mutation_p.V246A|VCAM1_ENST00000347652.2_Missense_Mutation_p.V308A	NM_001078.3	NP_001069.1	P19320	VCAM1_HUMAN	vascular cell adhesion molecule 1	308	Ig-like C2-type 3.				acute inflammatory response (GO:0002526)|aging (GO:0007568)|amine metabolic process (GO:0009308)|B cell differentiation (GO:0030183)|cell adhesion (GO:0007155)|cell chemotaxis (GO:0060326)|cell-matrix adhesion (GO:0007160)|cellular response to glucose stimulus (GO:0071333)|cellular response to tumor necrosis factor (GO:0071356)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|chorio-allantoic fusion (GO:0060710)|chronic inflammatory response (GO:0002544)|cytokine-mediated signaling pathway (GO:0019221)|extracellular matrix organization (GO:0030198)|heart development (GO:0007507)|heterophilic cell-cell adhesion (GO:0007157)|interferon-gamma-mediated signaling pathway (GO:0060333)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte tethering or rolling (GO:0050901)|membrane to membrane docking (GO:0022614)|oxidation-reduction process (GO:0055114)|positive regulation of T cell proliferation (GO:0042102)|regulation of immune response (GO:0050776)|response to ethanol (GO:0045471)|response to hypoxia (GO:0001666)|response to ionizing radiation (GO:0010212)|response to lipopolysaccharide (GO:0032496)|response to nicotine (GO:0035094)|response to nutrient (GO:0007584)|response to zinc ion (GO:0010043)|viral process (GO:0016032)	alpha9-beta1 integrin-vascular cell adhesion molecule-1 complex (GO:0071065)|apical part of cell (GO:0045177)|cell surface (GO:0009986)|early endosome (GO:0005769)|endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|microvillus (GO:0005902)|plasma membrane (GO:0005886)|podosome (GO:0002102)|sarcolemma (GO:0042383)	cell adhesion molecule binding (GO:0050839)|integrin binding (GO:0005178)|primary amine oxidase activity (GO:0008131)	p.V308A(1)		central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(27)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	56		all_epithelial(167;3.83e-06)|all_lung(203;0.000485)|Lung NSC(277;0.0011)		Epithelial(280;0.0227)|all cancers(265;0.0276)|COAD - Colon adenocarcinoma(174;0.149)|Colorectal(144;0.169)|Lung(183;0.196)	Carvedilol(DB01136)	GAATTAATTGTTCAAGGTGAG	0.373																																						uc001dti.2																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1						c.(922-924)GTT>GCT		vascular cell adhesion molecule 1 isoform a	Carvedilol(DB01136)						83.0	83.0	83.0					1																	101190441		2203	4300	6503	SO:0001583	missense	7412				heterophilic cell-cell adhesion|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|leukocyte tethering or rolling|membrane to membrane docking|positive regulation of T cell proliferation|regulation of immune response	alpha9-beta1 integrin-vascular cell adhesion molecule-1 complex|apical part of cell|external side of plasma membrane|extracellular space|filopodium|integral to membrane|microvillus|podosome	cell adhesion molecule binding|integrin binding	g.chr1:101190441T>C	M60335	CCDS773.1, CCDS774.1, CCDS55617.1	1p32-p31	2014-01-30			ENSG00000162692	ENSG00000162692		"""CD molecules"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Endogenous ligands"""	12663	protein-coding gene	gene with protein product		192225					Standard	NM_080682		Approved	CD106	uc001dti.3	P19320	OTTHUMG00000010982	ENST00000294728.2:c.923T>C	1.37:g.101190441T>C	ENSP00000294728:p.Val308Ala					VCAM1_uc001dtj.2_Missense_Mutation_p.V308A|VCAM1_uc010ouj.1_Missense_Mutation_p.V246A	p.V308A	NM_001078	NP_001069	P19320	VCAM1_HUMAN		Epithelial(280;0.0227)|all cancers(265;0.0276)|COAD - Colon adenocarcinoma(174;0.149)|Colorectal(144;0.169)|Lung(183;0.196)	4	1043	+		all_epithelial(167;3.83e-06)|all_lung(203;0.000485)|Lung NSC(277;0.0011)	308			Ig-like C2-type 3.|Extracellular (Potential).		A8K6R7|B4DKS4|E9PDD1|Q6NUP8	Missense_Mutation	SNP	ENST00000294728.2	37	c.923T>C	CCDS773.1	.	.	.	.	.	.	.	.	.	.	t	19.99	3.928957	0.73327	.	.	ENSG00000162692	ENST00000370119;ENST00000347652;ENST00000294728;ENST00000370115	T;T;T;T	0.34859	1.34;1.91;1.34;1.34	5.38	5.38	0.77491	Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.060318	0.64402	D	0.000003	T	0.63965	0.2556	H	0.95187	3.635	0.39192	D	0.962977	D;D;D	0.89917	1.0;0.994;0.999	D;D;D	0.91635	0.999;0.941;0.978	T	0.76049	-0.3101	10	0.87932	D	0	-24.4768	12.068	0.53598	0.0:0.0:0.0:1.0	.	246;308;308	E9PDD1;P19320-2;P19320	.;.;VCAM1_HUMAN	A	246;308;308;308	ENSP00000359137:V246A;ENSP00000304611:V308A;ENSP00000294728:V308A;ENSP00000359133:V308A	ENSP00000294728:V308A	V	+	2	0	VCAM1	100963029	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	4.319000	0.59197	2.174000	0.68829	0.529000	0.55759	GTT		PASS	0.373	VCAM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030213.1	NM_001078		15	34	15	34	---	---	---	---
COL11A1	1301	broad.mit.edu	37	1	103347304	103347304	+	Missense_Mutation	SNP	C	C	G			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr1:103347304C>G	ENST00000370096.3	-	65	5301	c.4989G>C	c.(4987-4989)tgG>tgC	p.W1663C	COL11A1_ENST00000512756.1_Missense_Mutation_p.W1547C|COL11A1_ENST00000358392.2_Missense_Mutation_p.W1675C|COL11A1_ENST00000353414.4_Missense_Mutation_p.W1624C	NM_001854.3	NP_001845.3	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	1663	Fibrillar collagen NC1. {ECO:0000255|PROSITE-ProRule:PRU00793}.				cartilage condensation (GO:0001502)|chondrocyte development (GO:0002063)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|embryonic skeletal system morphogenesis (GO:0048704)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|inner ear morphogenesis (GO:0042472)|proteoglycan metabolic process (GO:0006029)|sensory perception of sound (GO:0007605)|tendon development (GO:0035989)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|visual perception (GO:0007601)	collagen type XI trimer (GO:0005592)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix binding (GO:0050840)|extracellular matrix structural constituent (GO:0005201)|metal ion binding (GO:0046872)|protein binding, bridging (GO:0030674)	p.W1663C(1)|p.W1675C(1)		NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		TCTCCTTTGGCCATGATGAAA	0.318																																						uc001dul.2																			2	Substitution - Missense(2)		lung(2)	ovary(6)|breast(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)|pancreas(1)	12						c.(4987-4989)TGG>TGC		alpha 1 type XI collagen isoform A							93.0	85.0	88.0					1																	103347304		2202	4300	6502	SO:0001583	missense	1301				collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging	g.chr1:103347304C>G	J04177	CCDS778.1, CCDS780.1, CCDS780.2, CCDS53348.1	1p21	2013-01-16			ENSG00000060718	ENSG00000060718		"""Collagens"""	2186	protein-coding gene	gene with protein product	"""collagen XI, alpha-1 polypeptide"""	120280		COLL6		3182841	Standard	NM_080630		Approved	STL2, CO11A1	uc001dul.3	P12107	OTTHUMG00000010872	ENST00000370096.3:c.4989G>C	1.37:g.103347304C>G	ENSP00000359114:p.Trp1663Cys					COL11A1_uc001duk.2_Missense_Mutation_p.W859C|COL11A1_uc001dum.2_Missense_Mutation_p.W1675C|COL11A1_uc001dun.2_Missense_Mutation_p.W1624C|COL11A1_uc009weh.2_Missense_Mutation_p.W1547C	p.W1663C	NM_001854	NP_001845	P12107	COBA1_HUMAN		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)	65	5307	-		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)	1663			Fibrillar collagen NC1.		B1ASK7|D3DT73|E9PCU0|Q14034|Q149N0|Q9UIT4|Q9UIT5|Q9UIT6	Missense_Mutation	SNP	ENST00000370096.3	37	c.4989G>C	CCDS778.1	.	.	.	.	.	.	.	.	.	.	C	19.30	3.801407	0.70567	.	.	ENSG00000060718	ENST00000370096;ENST00000358392;ENST00000353414;ENST00000370090;ENST00000512756	T;T;T;T	0.76316	-1.01;-1.01;-1.01;-1.01	4.9	4.9	0.64082	Fibrillar collagen, C-terminal (3);	0.203521	0.46145	D	0.000312	D	0.86247	0.5887	M	0.74546	2.27	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.87578	0.998;0.997;0.997;0.998;0.997	D	0.88099	0.2818	10	0.87932	D	0	.	18.248	0.89993	0.0:1.0:0.0:0.0	.	1547;1624;1675;1663;883	E9PCU0;P12107-3;P12107-2;P12107;F5H5Z5	.;.;.;COBA1_HUMAN;.	C	1663;1675;1624;883;1547	ENSP00000359114:W1663C;ENSP00000351163:W1675C;ENSP00000302551:W1624C;ENSP00000426533:W1547C	ENSP00000302551:W1624C	W	-	3	0	COL11A1	103119892	1.000000	0.71417	1.000000	0.80357	0.935000	0.57460	7.769000	0.85360	2.322000	0.78497	0.447000	0.29281	TGG		PASS	0.318	COL11A1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000029997.1	NM_080630		12	52	12	52	---	---	---	---
COL11A1	1301	broad.mit.edu	37	1	103381204	103381204	+	Missense_Mutation	SNP	C	C	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr1:103381204C>A	ENST00000370096.3	-	50	4111	c.3799G>T	c.(3799-3801)Ggg>Tgg	p.G1267W	COL11A1_ENST00000512756.1_Missense_Mutation_p.G1151W|COL11A1_ENST00000358392.2_Missense_Mutation_p.G1279W|COL11A1_ENST00000353414.4_Missense_Mutation_p.G1228W	NM_001854.3	NP_001845.3	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	1267	Triple-helical region.				cartilage condensation (GO:0001502)|chondrocyte development (GO:0002063)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|embryonic skeletal system morphogenesis (GO:0048704)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|inner ear morphogenesis (GO:0042472)|proteoglycan metabolic process (GO:0006029)|sensory perception of sound (GO:0007605)|tendon development (GO:0035989)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|visual perception (GO:0007601)	collagen type XI trimer (GO:0005592)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix binding (GO:0050840)|extracellular matrix structural constituent (GO:0005201)|metal ion binding (GO:0046872)|protein binding, bridging (GO:0030674)	p.G1267W(1)|p.G1279W(1)		NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		CCTGCTTCCCCAGGAGGCCCT	0.363																																						uc001dul.2																			2	Substitution - Missense(2)		lung(2)	ovary(6)|breast(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)|pancreas(1)	12						c.(3799-3801)GGG>TGG		alpha 1 type XI collagen isoform A							112.0	113.0	112.0					1																	103381204		2203	4300	6503	SO:0001583	missense	1301				collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging	g.chr1:103381204C>A	J04177	CCDS778.1, CCDS780.1, CCDS780.2, CCDS53348.1	1p21	2013-01-16			ENSG00000060718	ENSG00000060718		"""Collagens"""	2186	protein-coding gene	gene with protein product	"""collagen XI, alpha-1 polypeptide"""	120280		COLL6		3182841	Standard	NM_080630		Approved	STL2, CO11A1	uc001dul.3	P12107	OTTHUMG00000010872	ENST00000370096.3:c.3799G>T	1.37:g.103381204C>A	ENSP00000359114:p.Gly1267Trp					COL11A1_uc001duk.2_Missense_Mutation_p.G463W|COL11A1_uc001dum.2_Missense_Mutation_p.G1279W|COL11A1_uc001dun.2_Missense_Mutation_p.G1228W|COL11A1_uc009weh.2_Missense_Mutation_p.G1151W	p.G1267W	NM_001854	NP_001845	P12107	COBA1_HUMAN		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)	50	4117	-		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)	1267			Triple-helical region.		B1ASK7|D3DT73|E9PCU0|Q14034|Q149N0|Q9UIT4|Q9UIT5|Q9UIT6	Missense_Mutation	SNP	ENST00000370096.3	37	c.3799G>T	CCDS778.1	.	.	.	.	.	.	.	.	.	.	C	17.56	3.420647	0.62622	.	.	ENSG00000060718	ENST00000370096;ENST00000358392;ENST00000353414;ENST00000370090;ENST00000512756	D;D;D;D	0.97994	-4.32;-4.25;-4.32;-4.65	5.45	5.45	0.79879	.	0.000000	0.85682	D	0.000000	D	0.99351	0.9772	H	0.97852	4.09	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;1.0;1.0;1.0;0.999	D	0.98655	1.0681	10	0.87932	D	0	.	18.9027	0.92449	0.0:1.0:0.0:0.0	.	1151;1228;1279;1267;487	E9PCU0;P12107-3;P12107-2;P12107;F5H5Z5	.;.;.;COBA1_HUMAN;.	W	1267;1279;1228;487;1151	ENSP00000359114:G1267W;ENSP00000351163:G1279W;ENSP00000302551:G1228W;ENSP00000426533:G1151W	ENSP00000302551:G1228W	G	-	1	0	COL11A1	103153792	1.000000	0.71417	1.000000	0.80357	0.896000	0.52359	7.150000	0.77403	2.559000	0.86315	0.585000	0.79938	GGG		PASS	0.363	COL11A1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000029997.1	NM_080630		38	108	38	108	---	---	---	---
COL11A1	1301	broad.mit.edu	37	1	103428316	103428316	+	Splice_Site	SNP	C	C	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr1:103428316C>A	ENST00000370096.3	-	39	3229	c.2917G>T	c.(2917-2919)Gga>Tga	p.G973*	COL11A1_ENST00000512756.1_Splice_Site_p.G857*|COL11A1_ENST00000358392.2_Splice_Site_p.G985*|COL11A1_ENST00000353414.4_Splice_Site_p.G934*	NM_001854.3	NP_001845.3	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	973	Triple-helical region.				cartilage condensation (GO:0001502)|chondrocyte development (GO:0002063)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|embryonic skeletal system morphogenesis (GO:0048704)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|inner ear morphogenesis (GO:0042472)|proteoglycan metabolic process (GO:0006029)|sensory perception of sound (GO:0007605)|tendon development (GO:0035989)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|visual perception (GO:0007601)	collagen type XI trimer (GO:0005592)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix binding (GO:0050840)|extracellular matrix structural constituent (GO:0005201)|metal ion binding (GO:0046872)|protein binding, bridging (GO:0030674)	p.G973*(1)|p.G985*(1)		NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		CCGGTTGGTCCCTAAATTAGA	0.428																																						uc001dul.2																			2	Substitution - Nonsense(2)		lung(2)	ovary(6)|breast(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)|pancreas(1)	12						c.(2917-2919)GGA>TGA		alpha 1 type XI collagen isoform A							68.0	66.0	67.0					1																	103428316		2203	4300	6503	SO:0001630	splice_region_variant	1301				collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging	g.chr1:103428316C>A	J04177	CCDS778.1, CCDS780.1, CCDS780.2, CCDS53348.1	1p21	2013-01-16			ENSG00000060718	ENSG00000060718		"""Collagens"""	2186	protein-coding gene	gene with protein product	"""collagen XI, alpha-1 polypeptide"""	120280		COLL6		3182841	Standard	NM_080630		Approved	STL2, CO11A1	uc001dul.3	P12107	OTTHUMG00000010872	ENST00000370096.3:c.2917-1G>T	1.37:g.103428316C>A						COL11A1_uc001duk.2_Nonsense_Mutation_p.G169*|COL11A1_uc001dum.2_Nonsense_Mutation_p.G985*|COL11A1_uc001dun.2_Nonsense_Mutation_p.G934*|COL11A1_uc009weh.2_Nonsense_Mutation_p.G857*	p.G973*	NM_001854	NP_001845	P12107	COBA1_HUMAN		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)	39	3235	-		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)	973			Triple-helical region.		B1ASK7|D3DT73|E9PCU0|Q14034|Q149N0|Q9UIT4|Q9UIT5|Q9UIT6	Nonsense_Mutation	SNP	ENST00000370096.3	37	c.2917G>T	CCDS778.1	.	.	.	.	.	.	.	.	.	.	C	44	11.076324	0.99512	.	.	ENSG00000060718	ENST00000370096;ENST00000358392;ENST00000353414;ENST00000370090;ENST00000512756	.	.	.	5.67	5.67	0.87782	.	0.060329	0.64402	D	0.000003	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	19.7741	0.96385	0.0:1.0:0.0:0.0	.	.	.	.	X	973;985;934;193;857	.	ENSP00000302551:G934X	G	-	1	0	COL11A1	103200904	1.000000	0.71417	1.000000	0.80357	0.819000	0.46315	7.719000	0.84751	2.673000	0.90976	0.557000	0.71058	GGA		PASS	0.428	COL11A1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000029997.1	NM_080630	Nonsense_Mutation	22	64	22	64	---	---	---	---
COL11A1	1301	broad.mit.edu	37	1	103444657	103444657	+	Missense_Mutation	SNP	C	C	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr1:103444657C>A	ENST00000370096.3	-	33	2926	c.2614G>T	c.(2614-2616)Gta>Tta	p.V872L	COL11A1_ENST00000512756.1_Missense_Mutation_p.V756L|COL11A1_ENST00000358392.2_Missense_Mutation_p.V884L|COL11A1_ENST00000353414.4_Missense_Mutation_p.V833L	NM_001854.3	NP_001845.3	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	872	Triple-helical region.				cartilage condensation (GO:0001502)|chondrocyte development (GO:0002063)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|embryonic skeletal system morphogenesis (GO:0048704)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|inner ear morphogenesis (GO:0042472)|proteoglycan metabolic process (GO:0006029)|sensory perception of sound (GO:0007605)|tendon development (GO:0035989)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|visual perception (GO:0007601)	collagen type XI trimer (GO:0005592)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix binding (GO:0050840)|extracellular matrix structural constituent (GO:0005201)|metal ion binding (GO:0046872)|protein binding, bridging (GO:0030674)	p.V872L(1)|p.V884L(1)		NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		TTGCCAGCTACTCCCTAGCAA	0.408																																						uc001dul.2																			2	Substitution - Missense(2)		lung(2)	ovary(6)|breast(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)|pancreas(1)	12						c.(2614-2616)GTA>TTA		alpha 1 type XI collagen isoform A							47.0	51.0	50.0					1																	103444657		2203	4300	6503	SO:0001583	missense	1301				collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging	g.chr1:103444657C>A	J04177	CCDS778.1, CCDS780.1, CCDS780.2, CCDS53348.1	1p21	2013-01-16			ENSG00000060718	ENSG00000060718		"""Collagens"""	2186	protein-coding gene	gene with protein product	"""collagen XI, alpha-1 polypeptide"""	120280		COLL6		3182841	Standard	NM_080630		Approved	STL2, CO11A1	uc001dul.3	P12107	OTTHUMG00000010872	ENST00000370096.3:c.2614G>T	1.37:g.103444657C>A	ENSP00000359114:p.Val872Leu					COL11A1_uc001duk.2_Missense_Mutation_p.V68L|COL11A1_uc001dum.2_Missense_Mutation_p.V884L|COL11A1_uc001dun.2_Missense_Mutation_p.V833L|COL11A1_uc009weh.2_Missense_Mutation_p.V756L	p.V872L	NM_001854	NP_001845	P12107	COBA1_HUMAN		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)	33	2932	-		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)	872			Triple-helical region.		B1ASK7|D3DT73|E9PCU0|Q14034|Q149N0|Q9UIT4|Q9UIT5|Q9UIT6	Missense_Mutation	SNP	ENST00000370096.3	37	c.2614G>T	CCDS778.1	.	.	.	.	.	.	.	.	.	.	C	10.25	1.299669	0.23650	.	.	ENSG00000060718	ENST00000370096;ENST00000358392;ENST00000353414;ENST00000370090;ENST00000512756	D;D;D;D	0.93488	-3.23;-3.23;-3.23;-3.16	5.25	1.24	0.21308	.	0.552000	0.18301	N	0.145431	T	0.61887	0.2383	N	0.03016	-0.435	0.35588	D	0.806811	B;B;B;B;B	0.09022	0.002;0.0;0.0;0.0;0.0	B;B;B;B;B	0.26310	0.068;0.004;0.002;0.001;0.003	T	0.47497	-0.9113	10	0.06365	T	0.9	.	5.2985	0.15766	0.1586:0.532:0.0:0.3094	.	756;833;884;872;92	E9PCU0;P12107-3;P12107-2;P12107;F5H5Z5	.;.;.;COBA1_HUMAN;.	L	872;884;833;92;756	ENSP00000359114:V872L;ENSP00000351163:V884L;ENSP00000302551:V833L;ENSP00000426533:V756L	ENSP00000302551:V833L	V	-	1	0	COL11A1	103217245	0.005000	0.15991	0.769000	0.31535	0.928000	0.56348	0.294000	0.19047	0.040000	0.15660	-0.119000	0.15052	GTA		PASS	0.408	COL11A1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000029997.1	NM_080630		15	56	15	56	---	---	---	---
COL11A1	1301	broad.mit.edu	37	1	103444981	103444981	+	Missense_Mutation	SNP	C	C	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr1:103444981C>A	ENST00000370096.3	-	32	2879	c.2567G>T	c.(2566-2568)gGa>gTa	p.G856V	COL11A1_ENST00000512756.1_Missense_Mutation_p.G740V|COL11A1_ENST00000358392.2_Missense_Mutation_p.G868V|COL11A1_ENST00000353414.4_Missense_Mutation_p.G817V	NM_001854.3	NP_001845.3	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	856	Triple-helical region.				cartilage condensation (GO:0001502)|chondrocyte development (GO:0002063)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|embryonic skeletal system morphogenesis (GO:0048704)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|inner ear morphogenesis (GO:0042472)|proteoglycan metabolic process (GO:0006029)|sensory perception of sound (GO:0007605)|tendon development (GO:0035989)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|visual perception (GO:0007601)	collagen type XI trimer (GO:0005592)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix binding (GO:0050840)|extracellular matrix structural constituent (GO:0005201)|metal ion binding (GO:0046872)|protein binding, bridging (GO:0030674)	p.G868V(1)|p.G856V(1)		NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		CCCAGGGAATCCAGTGGAACC	0.338																																						uc001dul.2																			2	Substitution - Missense(2)		lung(2)	ovary(6)|breast(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)|pancreas(1)	12						c.(2566-2568)GGA>GTA		alpha 1 type XI collagen isoform A							40.0	44.0	43.0					1																	103444981		2203	4300	6503	SO:0001583	missense	1301				collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging	g.chr1:103444981C>A	J04177	CCDS778.1, CCDS780.1, CCDS780.2, CCDS53348.1	1p21	2013-01-16			ENSG00000060718	ENSG00000060718		"""Collagens"""	2186	protein-coding gene	gene with protein product	"""collagen XI, alpha-1 polypeptide"""	120280		COLL6		3182841	Standard	NM_080630		Approved	STL2, CO11A1	uc001dul.3	P12107	OTTHUMG00000010872	ENST00000370096.3:c.2567G>T	1.37:g.103444981C>A	ENSP00000359114:p.Gly856Val					COL11A1_uc001duk.2_Missense_Mutation_p.G52V|COL11A1_uc001dum.2_Missense_Mutation_p.G868V|COL11A1_uc001dun.2_Missense_Mutation_p.G817V|COL11A1_uc009weh.2_Missense_Mutation_p.G740V	p.G856V	NM_001854	NP_001845	P12107	COBA1_HUMAN		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)	32	2885	-		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)	856			Triple-helical region.		B1ASK7|D3DT73|E9PCU0|Q14034|Q149N0|Q9UIT4|Q9UIT5|Q9UIT6	Missense_Mutation	SNP	ENST00000370096.3	37	c.2567G>T	CCDS778.1	.	.	.	.	.	.	.	.	.	.	C	23.9	4.466552	0.84425	.	.	ENSG00000060718	ENST00000370096;ENST00000358392;ENST00000353414;ENST00000370090;ENST00000512756	D;D;D;D	0.97941	-4.62;-4.62;-4.62;-4.62	5.02	5.02	0.67125	.	0.000000	0.85682	D	0.000000	D	0.99108	0.9693	M	0.94101	3.495	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;0.999;1.0;0.998;0.998	D	0.99490	1.0950	10	0.87932	D	0	.	18.5374	0.91015	0.0:1.0:0.0:0.0	.	740;817;868;856;76	E9PCU0;P12107-3;P12107-2;P12107;F5H5Z5	.;.;.;COBA1_HUMAN;.	V	856;868;817;76;740	ENSP00000359114:G856V;ENSP00000351163:G868V;ENSP00000302551:G817V;ENSP00000426533:G740V	ENSP00000302551:G817V	G	-	2	0	COL11A1	103217569	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	7.133000	0.77259	2.612000	0.88384	0.655000	0.94253	GGA		PASS	0.338	COL11A1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000029997.1	NM_080630		16	58	16	58	---	---	---	---
PSRC1	84722	broad.mit.edu	37	1	109824326	109824326	+	Missense_Mutation	SNP	G	G	A	rs148605172		TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr1:109824326G>A	ENST00000438534.2	-	4	572	c.434C>T	c.(433-435)aCg>aTg	p.T145M	PSRC1_ENST00000369907.3_Missense_Mutation_p.T145M|PSRC1_ENST00000409138.2_Missense_Mutation_p.T145M|PSRC1_ENST00000369903.2_Missense_Mutation_p.T145M|PSRC1_ENST00000409267.1_Missense_Mutation_p.T145M|PSRC1_ENST00000369909.2_Missense_Mutation_p.T145M|PSRC1_ENST00000369904.3_Missense_Mutation_p.T145M	NM_001005290.3	NP_001005290.1	Q6PGN9	PSRC1_HUMAN	proline/serine-rich coiled-coil 1	145	4 X 4 AA repeats of P-X-X-P.				microtubule bundle formation (GO:0001578)|mitotic metaphase plate congression (GO:0007080)|negative regulation of cell growth (GO:0030308)|positive regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045737)|positive regulation of microtubule polymerization (GO:0031116)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of mitotic spindle organization (GO:0060236)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|microtubule cytoskeleton (GO:0015630)|midbody (GO:0030496)|nucleus (GO:0005634)|spindle (GO:0005819)	microtubule binding (GO:0008017)	p.T145M(1)		endometrium(1)|large_intestine(1)|lung(2)|prostate(2)|skin(1)	7		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)		Colorectal(144;0.0286)|Lung(183;0.0658)|COAD - Colon adenocarcinoma(174;0.112)|Epithelial(280;0.188)|all cancers(265;0.213)		GAGTCGAGGCGTCAGGCTGCT	0.592																																						uc001dxg.2																			1	Substitution - Missense(1)		lung(1)		0						c.(433-435)ACG>ATG		proline/serine-rich coiled-coil 1 isoform c		G	MET/THR,MET/THR,MET/THR	2,4404	4.2+/-10.8	0,2,2201	63.0	67.0	66.0		434,434,434	4.7	1.0	1	dbSNP_134	66	2,8598	2.2+/-6.3	0,2,4298	yes	missense,missense,missense	PSRC1	NM_001005290.3,NM_001032291.2,NM_032636.7	81,81,81	0,4,6499	AA,AG,GG		0.0233,0.0454,0.0308	probably-damaging,probably-damaging,probably-damaging	145/311,145/334,145/334	109824326	4,13002	2203	4300	6503	SO:0001583	missense	84722				cell division|microtubule bundle formation|mitotic metaphase plate congression|negative regulation of cell growth|positive regulation of microtubule polymerization|positive regulation of transcription, DNA-dependent|regulation of mitotic spindle organization	cytosol|midbody|spindle pole	microtubule binding	g.chr1:109824326G>A		CCDS797.1, CCDS30791.1	1p13.3	2008-02-05			ENSG00000134222	ENSG00000134222			24472	protein-coding gene	gene with protein product	"""differential display and activated by p53"""	613126				12427559, 10618717	Standard	NM_001032291		Approved	DDA3	uc001dxd.3	Q6PGN9	OTTHUMG00000012000	ENST00000438534.2:c.434C>T	1.37:g.109824326G>A	ENSP00000413591:p.Thr145Met					PSRC1_uc001dxb.2_Translation_Start_Site|PSRC1_uc001dxc.2_Missense_Mutation_p.T145M|PSRC1_uc001dxd.2_Missense_Mutation_p.T145M|PSRC1_uc001dxe.2_Missense_Mutation_p.T145M|PSRC1_uc001dxf.2_Missense_Mutation_p.T145M|PSRC1_uc001dxh.2_Missense_Mutation_p.T145M|PSRC1_uc001dxi.2_Missense_Mutation_p.T145M|PSRC1_uc001dxj.2_Missense_Mutation_p.T145M	p.T145M	NM_001032290	NP_001027461	Q6PGN9	PSRC1_HUMAN		Colorectal(144;0.0286)|Lung(183;0.0658)|COAD - Colon adenocarcinoma(174;0.112)|Epithelial(280;0.188)|all cancers(265;0.213)	4	556	-		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)	145			4 X 4 AA repeats of P-X-X-P.		Q5T2Z3|Q6ZTI8|Q71MG3|Q9BV77	Missense_Mutation	SNP	ENST00000438534.2	37	c.434C>T		.	.	.	.	.	.	.	.	.	.	G	19.77	3.889099	0.72524	4.54E-4	2.33E-4	ENSG00000134222	ENST00000369904;ENST00000409267;ENST00000369907;ENST00000438534;ENST00000369909;ENST00000369903;ENST00000429031;ENST00000418914	T;T;T;T;T	0.52295	0.68;0.68;0.67;0.68;0.68	5.63	4.69	0.59074	.	0.419170	0.23234	N	0.050423	T	0.46034	0.1372	L	0.36672	1.1	0.29150	N	0.878428	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.71414	0.973;0.973;0.951	T	0.35871	-0.9771	10	0.62326	D	0.03	-0.0348	12.6592	0.56803	0.0:0.1649:0.8351:0.0	.	145;145;145	Q6PGN9;Q6PGN9-3;Q6PGN9-2	PSRC1_HUMAN;.;.	M	145	ENSP00000386323:T145M;ENSP00000358923:T145M;ENSP00000413591:T145M;ENSP00000358925:T145M;ENSP00000358919:T145M	ENSP00000358919:T145M	T	-	2	0	PSRC1	109625849	0.688000	0.27680	0.997000	0.53966	0.922000	0.55478	1.338000	0.33873	2.659000	0.90383	0.561000	0.74099	ACG		PASS	0.592	PSRC1-202	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000335567.3	NM_032636		6	131	6	131	---	---	---	---
KCNA2	3737	broad.mit.edu	37	1	111147092	111147092	+	Missense_Mutation	SNP	G	G	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr1:111147092G>T	ENST00000485317.1	-	3	986	c.313C>A	c.(313-315)Ccc>Acc	p.P105T	KCNA2_ENST00000316361.4_Missense_Mutation_p.P105T|KCNA2_ENST00000525120.1_Intron|KCNA2_ENST00000369770.3_Missense_Mutation_p.P105T|KCNA2_ENST00000440270.1_Missense_Mutation_p.P105T			P16389	KCNA2_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 2	105					optic nerve structural organization (GO:0021633)|potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	juxtaparanode region of axon (GO:0044224)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|outward rectifier potassium channel activity (GO:0015271)|potassium channel activity (GO:0005267)|voltage-gated potassium channel activity (GO:0005249)	p.P105T(1)		endometrium(1)|kidney(1)|large_intestine(6)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	32		all_cancers(81;5.55e-06)|all_epithelial(167;1.87e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000398)		Colorectal(144;0.00878)|Lung(183;0.0234)|all cancers(265;0.0492)|Epithelial(280;0.0529)|COAD - Colon adenocarcinoma(174;0.131)|LUSC - Lung squamous cell carcinoma(189;0.133)|READ - Rectum adenocarcinoma(129;0.191)	Dalfampridine(DB06637)	ATATCTAAGGGCACATTCACA	0.478																																					Pancreas(18;568 735 10587 23710 36357)	uc001dzu.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(313-315)CCC>ACC		potassium voltage-gated channel, shaker-related							43.0	46.0	45.0					1																	111147092		2203	4300	6503	SO:0001583	missense	3737					juxtaparanode region of axon|voltage-gated potassium channel complex	delayed rectifier potassium channel activity	g.chr1:111147092G>T	L02752	CCDS827.1, CCDS55625.1	1p13	2012-07-05			ENSG00000177301	ENSG00000177301		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6220	protein-coding gene	gene with protein product		176262				16382104	Standard	NM_004974		Approved	Kv1.2, HK4	uc009wfw.3	P16389	OTTHUMG00000011567	ENST00000485317.1:c.313C>A	1.37:g.111147092G>T	ENSP00000433109:p.Pro105Thr					KCNA2_uc009wfv.1_Missense_Mutation_p.P105T|KCNA2_uc009wfw.2_Missense_Mutation_p.P105T	p.P105T	NM_004974	NP_004965	P16389	KCNA2_HUMAN		Colorectal(144;0.00878)|Lung(183;0.0234)|all cancers(265;0.0492)|Epithelial(280;0.0529)|COAD - Colon adenocarcinoma(174;0.131)|LUSC - Lung squamous cell carcinoma(189;0.133)|READ - Rectum adenocarcinoma(129;0.191)	2	809	-		all_cancers(81;5.55e-06)|all_epithelial(167;1.87e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000398)	105					Q86XG6	Missense_Mutation	SNP	ENST00000485317.1	37	c.313C>A	CCDS827.1	.	.	.	.	.	.	.	.	.	.	G	10.52	1.372855	0.24857	.	.	ENSG00000177301	ENST00000369770;ENST00000485317;ENST00000440270;ENST00000316361	T;T;T;T	0.76186	-1.0;-1.0;-1.0;-1.0	6.02	6.02	0.97574	BTB/POZ-like (1);BTB/POZ fold (2);Potassium channel, voltage dependent, Kv, tetramerisation (1);	0.112102	0.64402	D	0.000009	T	0.76926	0.4056	M	0.86028	2.79	0.53688	D	0.999977	B;B	0.26775	0.159;0.02	B;B	0.36608	0.229;0.04	T	0.73254	-0.4041	10	0.35671	T	0.21	.	20.5407	0.99260	0.0:0.0:1.0:0.0	.	105;105	Q86XG6;P16389	.;KCNA2_HUMAN	T	105	ENSP00000358785:P105T;ENSP00000433109:P105T;ENSP00000415257:P105T;ENSP00000314520:P105T	ENSP00000314520:P105T	P	-	1	0	KCNA2	110948615	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.098000	0.64548	2.865000	0.98341	0.655000	0.94253	CCC		PASS	0.478	KCNA2-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128001.2	NM_004974		20	45	20	45	---	---	---	---
CAPZA1	829	broad.mit.edu	37	1	113197267	113197267	+	Missense_Mutation	SNP	G	G	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr1:113197267G>A	ENST00000263168.3	+	5	1072	c.400G>A	c.(400-402)Gac>Aac	p.D134N	snoU13_ENST00000459345.1_RNA|CAPZA1_ENST00000476936.1_Intron	NM_006135.2	NP_006126.1	P52907	CAZA1_HUMAN	capping protein (actin filament) muscle Z-line, alpha 1	134					actin cytoskeleton organization (GO:0030036)|actin filament capping (GO:0051693)|blood coagulation (GO:0007596)|cellular component movement (GO:0006928)|innate immune response (GO:0045087)|protein complex assembly (GO:0006461)	actin cytoskeleton (GO:0015629)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|F-actin capping protein complex (GO:0008290)|WASH complex (GO:0071203)	actin binding (GO:0003779)	p.D134N(1)		breast(1)|kidney(2)|large_intestine(2)|lung(3)|prostate(1)	9	Lung SC(450;0.246)	all_cancers(81;1.44e-07)|all_epithelial(167;7.64e-07)|all_lung(203;2.16e-05)|Lung NSC(69;3.86e-05)		Lung(183;0.0234)|all cancers(265;0.0246)|Epithelial(280;0.0342)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		CTATGTGAAAGACCATTATTC	0.438																																						uc001ecj.1																			1	Substitution - Missense(1)		lung(1)		0						c.(400-402)GAC>AAC		F-actin capping protein alpha-1 subunit							143.0	152.0	149.0					1																	113197267		2203	4300	6503	SO:0001583	missense	829				actin cytoskeleton organization|actin filament capping|blood coagulation|cellular component movement|innate immune response|protein complex assembly	cytosol|extracellular region|F-actin capping protein complex|WASH complex	actin binding	g.chr1:113197267G>A	U56637	CCDS30805.1	1p13.2	2014-05-09			ENSG00000116489	ENSG00000116489			1488	protein-coding gene	gene with protein product		601580				7665558, 9119363	Standard	NM_006135		Approved		uc001ecj.1	P52907	OTTHUMG00000011769	ENST00000263168.3:c.400G>A	1.37:g.113197267G>A	ENSP00000263168:p.Asp134Asn						p.D134N	NM_006135	NP_006126	P52907	CAZA1_HUMAN		Lung(183;0.0234)|all cancers(265;0.0246)|Epithelial(280;0.0342)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)	5	792	+	Lung SC(450;0.246)	all_cancers(81;1.44e-07)|all_epithelial(167;7.64e-07)|all_lung(203;2.16e-05)|Lung NSC(69;3.86e-05)	134					Q53FQ6|Q6FHD5	Missense_Mutation	SNP	ENST00000263168.3	37	c.400G>A	CCDS30805.1	.	.	.	.	.	.	.	.	.	.	G	13.96	2.391685	0.42410	.	.	ENSG00000116489	ENST00000263168	.	.	.	4.64	4.64	0.57946	.	0.118470	0.64402	D	0.000014	T	0.24470	0.0593	N	0.05487	-0.04	0.45747	D	0.998643	B	0.16603	0.018	B	0.20384	0.029	T	0.05649	-1.0872	9	0.25106	T	0.35	-21.0588	17.6289	0.88100	0.0:0.0:1.0:0.0	.	134	P52907	CAZA1_HUMAN	N	134	.	ENSP00000263168:D134N	D	+	1	0	CAPZA1	112998790	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.744000	0.85034	2.561000	0.86390	0.585000	0.79938	GAC		PASS	0.438	CAPZA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032567.2	NM_006135		55	166	55	166	---	---	---	---
AMPD1	270	broad.mit.edu	37	1	115220052	115220052	+	Missense_Mutation	SNP	C	C	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr1:115220052C>A	ENST00000520113.2	-	10	1422	c.1407G>T	c.(1405-1407)tgG>tgT	p.W469C	AMPD1_ENST00000369538.3_Missense_Mutation_p.W465C|AMPD1_ENST00000353928.6_Missense_Mutation_p.W436C			P23109	AMPD1_HUMAN	adenosine monophosphate deaminase 1	469					IMP salvage (GO:0032264)|nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase metabolic process (GO:0006144)|purine-containing compound salvage (GO:0043101)|response to organic substance (GO:0010033)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	AMP deaminase activity (GO:0003876)|metal ion binding (GO:0046872)	p.W469C(1)|p.W436C(1)		NS(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(17)|ovary(3)|pancreas(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	45	all_epithelial(7;7.83e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)	Adenosine monophosphate(DB00131)	AGAGTTTGCTCCACTCATCAG	0.567																																						uc001efe.1																			2	Substitution - Missense(2)		lung(2)	ovary(2)|large_intestine(1)|skin(1)	4						c.(1306-1308)TGG>TGT		adenosine monophosphate deaminase 1 (isoform M)	Adenosine monophosphate(DB00131)						122.0	103.0	110.0					1																	115220052		2203	4300	6503	SO:0001583	missense	270				purine base metabolic process|purine ribonucleoside monophosphate biosynthetic process|purine-containing compound salvage	cytosol	AMP deaminase activity|metal ion binding	g.chr1:115220052C>A	M60092	CCDS876.1, CCDS876.2, CCDS53349.1	1p13	2010-02-10	2010-02-10		ENSG00000116748	ENSG00000116748	3.5.4.6		468	protein-coding gene	gene with protein product	"""AMPD isoform M"", ""skeletal muscle AMPD"""	102770	"""adenosine monophosphate deaminase 1 (isoform M)"""			1400401	Standard	NM_001172626		Approved	MAD, MADA	uc001efe.2	P23109	OTTHUMG00000011892	ENST00000520113.2:c.1407G>T	1.37:g.115220052C>A	ENSP00000430075:p.Trp469Cys					AMPD1_uc001eff.1_Missense_Mutation_p.W432C	p.W436C	NM_000036	NP_000027	P23109	AMPD1_HUMAN		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)	10	1392	-	all_epithelial(7;7.83e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)	436					A8K5N4|B2RAM1|F2Z3B3|Q5TF00|Q5TF02	Missense_Mutation	SNP	ENST00000520113.2	37	c.1308G>T	CCDS876.2	.	.	.	.	.	.	.	.	.	.	C	25.7	4.667544	0.88348	.	.	ENSG00000116748	ENST00000520113;ENST00000369538;ENST00000353928	D;D;D	0.85629	-2.01;-2.01;-2.01	5.85	5.85	0.93711	Adenosine/AMP deaminase (1);	0.000000	0.85682	D	0.000000	D	0.94955	0.8368	H	0.95504	3.68	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.95576	0.8642	10	0.87932	D	0	-8.0961	20.1775	0.98187	0.0:1.0:0.0:0.0	.	465;436	Q5TF02;P23109	.;AMPD1_HUMAN	C	469;465;436	ENSP00000430075:W469C;ENSP00000358551:W465C;ENSP00000316520:W436C	ENSP00000316520:W436C	W	-	3	0	AMPD1	115021575	1.000000	0.71417	0.987000	0.45799	0.905000	0.53344	7.818000	0.86416	2.771000	0.95319	0.561000	0.74099	TGG		PASS	0.567	AMPD1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000032860.4			28	90	28	90	---	---	---	---
SPAG17	200162	broad.mit.edu	37	1	118623765	118623765	+	Missense_Mutation	SNP	T	T	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr1:118623765T>A	ENST00000336338.5	-	15	2233	c.2168A>T	c.(2167-2169)cAg>cTg	p.Q723L		NM_206996.2	NP_996879.1	Q6Q759	SPG17_HUMAN	sperm associated antigen 17	723						cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)|sperm flagellum (GO:0036126)		p.Q723L(1)		NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(30)|liver(2)|lung(56)|ovary(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	123	Esophageal squamous(2;0.0106)	all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01)		Lung(183;0.0858)		GATGCTCTCCTGCTCTAACAG	0.423																																						uc001ehk.2																			1	Substitution - Missense(1)		lung(1)	upper_aerodigestive_tract(2)|ovary(2)|large_intestine(1)|skin(1)	6						c.(2167-2169)CAG>CTG		sperm associated antigen 17							176.0	161.0	166.0					1																	118623765		2203	4300	6503	SO:0001583	missense	200162					cilium|flagellar axoneme|microtubule		g.chr1:118623765T>A		CCDS899.1	1p12	2014-01-21			ENSG00000155761	ENSG00000155761			26620	protein-coding gene	gene with protein product							Standard	NM_206996		Approved	FLJ34497, PF6, RP4-776P7.2, CT143	uc001ehk.2	Q6Q759	OTTHUMG00000012198	ENST00000336338.5:c.2168A>T	1.37:g.118623765T>A	ENSP00000337804:p.Gln723Leu						p.Q723L	NM_206996	NP_996879	Q6Q759	SPG17_HUMAN		Lung(183;0.0858)	15	2236	-	Esophageal squamous(2;0.0106)	all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01)	723					Q8NAZ1|Q9NT21	Missense_Mutation	SNP	ENST00000336338.5	37	c.2168A>T	CCDS899.1	.	.	.	.	.	.	.	.	.	.	T	6.143	0.394523	0.11638	.	.	ENSG00000155761	ENST00000336338	T	0.29655	1.56	3.93	1.45	0.22620	.	1.948680	0.01929	N	0.041100	T	0.13841	0.0335	L	0.53249	1.67	0.09310	N	1	B	0.10296	0.003	B	0.10450	0.005	T	0.25152	-1.0140	10	0.66056	D	0.02	.	6.4468	0.21882	0.3972:0.0:0.0:0.6028	.	723	Q6Q759	SPG17_HUMAN	L	723	ENSP00000337804:Q723L	ENSP00000337804:Q723L	Q	-	2	0	SPAG17	118425288	0.001000	0.12720	0.000000	0.03702	0.018000	0.09664	0.600000	0.24104	0.284000	0.22305	0.482000	0.46254	CAG		PASS	0.423	SPAG17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033723.1	NM_206996		48	135	48	135	---	---	---	---
TBX15	6913	broad.mit.edu	37	1	119427626	119427626	+	Missense_Mutation	SNP	T	T	C	rs200180696		TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr1:119427626T>C	ENST00000369429.3	-	8	1547	c.1538A>G	c.(1537-1539)aAc>aGc	p.N513S	TBX15_ENST00000207157.3_Missense_Mutation_p.N407S			Q96SF7	TBX15_HUMAN	T-box 15	513					embryonic cranial skeleton morphogenesis (GO:0048701)	Tle3-Aes complex (GO:0070722)	RNA polymerase II transcription corepressor activity (GO:0001106)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region sequence-specific DNA binding (GO:0000976)	p.N407S(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(19)|ovary(1)|pancreas(1)|skin(5)	37	all_neural(166;0.117)	all_cancers(81;0.000692)|all_lung(203;3.05e-06)|Lung NSC(69;2.13e-05)|all_epithelial(167;0.000237)		Lung(183;0.044)|LUSC - Lung squamous cell carcinoma(189;0.141)		GTTGTAAGGGTTGTGAAGGGA	0.532													T|||	1	0.000199681	0.0008	0.0	5008	,	,		20885	0.0		0.0	False		,,,				2504	0.0					uc001ehl.1																			1	Substitution - Missense(1)		lung(1)	large_intestine(1)|pancreas(1)	2						c.(1219-1221)AAC>AGC		T-box 15							73.0	66.0	68.0					1																	119427626		2203	4300	6503	SO:0001583	missense	6913					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr1:119427626T>C	AK127536	CCDS30816.1	1p11.1	2008-02-05	2004-10-05		ENSG00000092607	ENSG00000092607		"""T-boxes"""	11594	protein-coding gene	gene with protein product		604127	"""T-box 14"""	TBX14		9693034	Standard	XM_005271162		Approved		uc001ehl.1	Q96SF7	OTTHUMG00000012263	ENST00000369429.3:c.1538A>G	1.37:g.119427626T>C	ENSP00000358437:p.Asn513Ser					TBX15_uc009whj.1_Missense_Mutation_p.N231S	p.N407S	NM_152380	NP_689593	Q96SF7	TBX15_HUMAN		Lung(183;0.044)|LUSC - Lung squamous cell carcinoma(189;0.141)	8	1535	-	all_neural(166;0.117)	all_cancers(81;0.000692)|all_lung(203;3.05e-06)|Lung NSC(69;2.13e-05)|all_epithelial(167;0.000237)	513					Q08E76|Q5JT54|Q5T9S7	Missense_Mutation	SNP	ENST00000369429.3	37	c.1220A>G		2|2	9.157509157509158E-4|9.157509157509158E-4	2|2	0.0040650406504065045|0.0040650406504065045	0|0	0.0|0.0	0|0	0.0|0.0	0|0	0.0|0.0	T|T	8.416|8.416	0.845318|0.845318	0.16963|0.16963	.|.	.|.	ENSG00000092607|ENSG00000092607	ENST00000344218;ENST00000207157;ENST00000369429;ENST00000449873|ENST00000393149	D;D;T|.	0.87103|.	-2.21;-2.06;-1.02|.	5.3|5.3	5.3|5.3	0.74995|0.74995	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.39226|0.39226	0.1070|0.1070	N|N	0.12746|0.12746	0.255|0.255	0.80722|0.80722	D|D	1|1	B;B|.	0.32425|.	0.33;0.371|.	B;B|.	0.30251|.	0.057;0.113|.	T|T	0.52859|0.52859	-0.8519|-0.8519	10|6	0.12766|0.62326	T|D	0.61|0.03	.|.	15.406|15.406	0.74877|0.74877	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	310;513|.	E9PCG3;Q96SF7|.	.;TBX15_HUMAN|.	S|A	310;407;513;241|239	ENSP00000207157:N407S;ENSP00000358437:N513S;ENSP00000398625:N241S|.	ENSP00000207157:N407S|ENSP00000376856:T239A	N|T	-|-	2|1	0|0	TBX15|TBX15	119229149|119229149	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.993000|0.993000	0.82548|0.82548	5.640000|5.640000	0.67875|0.67875	2.231000|2.231000	0.72958|0.72958	0.454000|0.454000	0.30748|0.30748	AAC|ACC		PASS	0.532	TBX15-002	PUTATIVE	not_organism_supported|upstream_ATG|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000034351.1	NM_152380		12	28	12	28	---	---	---	---
HSD3B2	3284	broad.mit.edu	37	1	119965138	119965138	+	Silent	SNP	G	G	T	rs116342586		TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr1:119965138G>T	ENST00000543831.1	+	4	1263	c.1014G>T	c.(1012-1014)gcG>gcT	p.A338A	HSD3B2_ENST00000369416.3_Silent_p.A338A	NM_001166120.1	NP_001159592.1	P26439	3BHS2_HUMAN	hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2	338					androgen biosynthetic process (GO:0006702)|glucocorticoid biosynthetic process (GO:0006704)|mineralocorticoid biosynthetic process (GO:0006705)|small molecule metabolic process (GO:0044281)|steroid biosynthetic process (GO:0006694)|steroid metabolic process (GO:0008202)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial intermembrane space (GO:0005758)|mitochondrial membrane (GO:0031966)|smooth endoplasmic reticulum membrane (GO:0030868)	3-beta-hydroxy-delta5-steroid dehydrogenase activity (GO:0003854)|steroid delta-isomerase activity (GO:0004769)	p.A338A(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(19)|ovary(2)|skin(1)	27	all_neural(166;0.187)	all_lung(203;1.06e-06)|Lung NSC(69;7.5e-06)|all_epithelial(167;0.000284)		Lung(183;0.015)|LUSC - Lung squamous cell carcinoma(189;0.0836)	Corticotropin(DB01285)|Medroxyprogesterone Acetate(DB00603)|Trilostane(DB01108)	GAGATCTGGCGTATAAGCCAC	0.517																																						uc001ehs.2																			1	Substitution - coding silent(1)		lung(1)	ovary(2)	2						c.(1012-1014)GCG>GCT		3 beta-hydroxysteroid dehydrogenase 2	NADH(DB00157)|Trilostane(DB01108)						70.0	65.0	67.0					1																	119965138		2203	4300	6503	SO:0001819	synonymous_variant	3284				androgen biosynthetic process|glucocorticoid biosynthetic process|mineralocorticoid biosynthetic process	integral to membrane|microsome|mitochondrial inner membrane|mitochondrial intermembrane space|smooth endoplasmic reticulum membrane	3-beta-hydroxy-delta5-steroid dehydrogenase activity|binding|steroid delta-isomerase activity	g.chr1:119965138G>T	BC038419	CCDS902.1	1p12	2014-06-03			ENSG00000203859	ENSG00000203859	1.1.1.145, 5.3.3.1	"""Short chain dehydrogenase/reductase superfamily / Extended SDR fold"""	5218	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 11E, member 2"""	613890				1363812, 19027726	Standard	NM_000198		Approved	SDR11E2	uc001eht.3	P26439	OTTHUMG00000012526	ENST00000543831.1:c.1014G>T	1.37:g.119965138G>T						HSD3B2_uc001eht.2_Silent_p.A338A|HSD3B2_uc001ehu.2_Intron	p.A338A	NM_000198	NP_000189	P26439	3BHS2_HUMAN		Lung(183;0.015)|LUSC - Lung squamous cell carcinoma(189;0.0836)	3	1787	+	all_neural(166;0.187)	all_lung(203;1.06e-06)|Lung NSC(69;7.5e-06)|all_epithelial(167;0.000284)	338					A2RRA5|Q16010|Q53GD4|Q6AI10|Q6LDB9|Q99890|Q9UD08	Silent	SNP	ENST00000543831.1	37	c.1014G>T	CCDS902.1																																																																																				PASS	0.517	HSD3B2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034994.1	NM_000198		18	47	18	47	---	---	---	---
NBPF7	343505	broad.mit.edu	37	1	120384192	120384192	+	IGR	SNP	G	G	T	rs6656217	byFrequency	TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr1:120384192G>T								REG4 (29909 upstream) : ADAM30 (51963 downstream)														p.R124R(1)									ATCAGCTCTCGTTCCTGAGAG	0.448																																						uc010oxk.1																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|skin(1)	2						c.(370-372)CGA>AGA		hypothetical protein LOC343505							132.0	146.0	141.0					1																	120384192		2203	4298	6501	SO:0001628	intergenic_variant	343505					cytoplasm		g.chr1:120384192G>T																													1.37:g.120384192G>T							p.R124R	NM_001047980	NP_001041445	P0C2Y1	NBPF7_HUMAN		Lung(183;0.0103)|LUSC - Lung squamous cell carcinoma(189;0.0544)	3	991	-	all_cancers(5;7.07e-10)|all_epithelial(5;1.62e-10)|all_neural(166;0.153)|Breast(55;0.234)	all_lung(203;3.66e-05)|Lung NSC(69;0.000192)|all_epithelial(167;0.0347)	124			Potential.			Silent	SNP		37	c.370C>A																																																																																				0	PASS	0.448									55	151	55	151	---	---	---	---
PPIAL4G	644591	broad.mit.edu	37	1	143767487	143767487	+	Nonsense_Mutation	SNP	C	C	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr1:143767487C>T	ENST00000419275.1	-	1	394	c.362G>A	c.(361-363)tGg>tAg	p.W121*		NM_001123068.1	NP_001116540.1	A2BFH1	PAL4G_HUMAN	peptidylprolyl isomerase A (cyclophilin A)-like 4G	121	PPIase cyclophilin-type. {ECO:0000255|PROSITE-ProRule:PRU00156}.				protein folding (GO:0006457)	cytoplasm (GO:0005737)	peptidyl-prolyl cis-trans isomerase activity (GO:0003755)	p.W121*(1)		breast(1)|endometrium(2)|kidney(1)|lung(8)|ovary(1)|skin(1)	14						GCCATCCAACCACTCAGTCTT	0.488																																						uc001ejt.2																			1	Substitution - Nonsense(1)		lung(1)		0						c.(361-363)TGG>TAG		peptidylprolyl isomerase A (cyclophilin A)-like							143.0	125.0	130.0					1																	143767487		1556	3564	5120	SO:0001587	stop_gained	644591				protein folding	cytoplasm	peptidyl-prolyl cis-trans isomerase activity	g.chr1:143767487C>T		CCDS41375.1, CCDS41375.2	1q21.1	2010-06-03			ENSG00000236334	ENSG00000236334			33996	protein-coding gene	gene with protein product							Standard	NM_001123068		Approved		uc001ejt.3	A2BFH1	OTTHUMG00000013629	ENST00000419275.1:c.362G>A	1.37:g.143767487C>T	ENSP00000393845:p.Trp121*						p.W121*	NM_001123068	NP_001116540	A2BFH1	PAL4G_HUMAN			1	395	-			121			PPIase cyclophilin-type.		A1L431	Nonsense_Mutation	SNP	ENST00000419275.1	37	c.362G>A	CCDS41375.1	.	.	.	.	.	.	.	.	.	.	.	17.84	3.487938	0.64074	.	.	ENSG00000236334	ENST00000419275	.	.	.	0.523	0.523	0.17060	.	0.073244	0.64402	U	0.000015	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	6.9309	0.24442	0.0:0.9999:0.0:1.0E-4	.	.	.	.	X	121	.	ENSP00000393845:W121X	W	-	2	0	PPIAL4G	142559010	1.000000	0.71417	0.975000	0.42487	0.669000	0.39330	4.984000	0.63838	0.587000	0.29643	0.403000	0.27427	TGG		PASS	0.488	PPIAL4G-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000037969.1	NM_001123068		78	515	78	515	---	---	---	---
PDE4DIP	9659	broad.mit.edu	37	1	144871797	144871797	+	Missense_Mutation	SNP	C	C	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr1:144871797C>A	ENST00000369354.3	-	32	5354	c.5165G>T	c.(5164-5166)aGc>aTc	p.S1722I	PDE4DIP_ENST00000530740.1_Missense_Mutation_p.S1807I|PDE4DIP_ENST00000524974.1_5'UTR|PDE4DIP_ENST00000313382.9_Intron|PDE4DIP_ENST00000369356.4_Missense_Mutation_p.S1722I|PDE4DIP_ENST00000369359.4_Missense_Mutation_p.S1858I			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein	1722					cellular protein complex assembly (GO:0043623)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|myofibril (GO:0030016)|nucleus (GO:0005634)	enzyme binding (GO:0019899)	p.S1722I(2)		NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		GCCAGTGGGGCTGAAAGGCAG	0.552			T	PDGFRB	MPD																																	uc001elw.3				Dom	yes		1	1q12	9659	T	phosphodiesterase 4D interacting protein (myomegalin)			L	PDGFRB		MPD		2	Substitution - Missense(2)		lung(2)	ovary(4)|haematopoietic_and_lymphoid_tissue(1)	5						c.(5164-5166)AGC>ATC		phosphodiesterase 4D interacting protein isoform							110.0	112.0	111.0					1																	144871797		2203	4296	6499	SO:0001583	missense	9659				cellular protein complex assembly	centrosome|Golgi apparatus|myofibril|nucleus	enzyme binding	g.chr1:144871797C>A	AB007923, AB007946	CCDS72887.1, CCDS72888.1, CCDS72889.1, CCDS72890.1, CCDS72891.1, CCDS72892.1, CCDS72893.1, CCDS72894.1	1q21.1	2008-07-31	2008-07-31		ENSG00000178104	ENSG00000178104			15580	protein-coding gene	gene with protein product	"""myomegalin"""	608117	"""cardiomyopathy associated 2"""	CMYA2		9455484, 11134006	Standard	NM_022359		Approved	KIAA0477, KIAA0454, MMGL	uc021ouh.1	Q5VU43	OTTHUMG00000013846	ENST00000369354.3:c.5165G>T	1.37:g.144871797C>A	ENSP00000358360:p.Ser1722Ile					NBPF10_uc009wir.2_Intron|NBPF9_uc010oye.1_Intron|NBPF9_uc010oyf.1_Intron|NBPF9_uc010oyg.1_Intron|PDE4DIP_uc001elk.1_Intron|PDE4DIP_uc001ell.1_Intron|PDE4DIP_uc001elm.3_Intron|PDE4DIP_uc001eln.3_Intron|PDE4DIP_uc001elo.2_Intron|PDE4DIP_uc001elx.3_Intron|PDE4DIP_uc001elv.3_Missense_Mutation_p.S729I	p.S1722I	NM_014644	NP_055459	Q5VU43	MYOME_HUMAN		Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)	32	5456	-			1722					A2RU15|O75042|O75065|Q2YDC1|Q5VU42|Q5VU44|Q5VU45|Q5VU46|Q5VU47|Q5VU48|Q5VU49|Q68DU2|Q6AZ93|Q6PK88|Q86T40|Q86TB2|Q8N3W0|Q8TAY9|Q9HCP2|Q9HCP3|Q9HCP4|Q9HCP5	Missense_Mutation	SNP	ENST00000369354.3	37	c.5165G>T	CCDS30824.1	.	.	.	.	.	.	.	.	.	.	C	12.04	1.819183	0.32145	.	.	ENSG00000178104	ENST00000369354;ENST00000369356;ENST00000530740;ENST00000369359	T;T;T;T	0.01584	4.83;4.82;4.75;4.82	5.97	5.97	0.96955	.	.	.	.	.	T	0.01454	0.0047	L	0.51422	1.61	0.80722	D	1	P	0.38642	0.641	B	0.38562	0.276	T	0.58640	-0.7601	9	0.59425	D	0.04	.	13.4975	0.61434	0.0:0.8435:0.1565:0.0	.	1722	Q5VU43	MYOME_HUMAN	I	1722;1722;1807;1858	ENSP00000358360:S1722I;ENSP00000358363:S1722I;ENSP00000435654:S1807I;ENSP00000358366:S1858I	ENSP00000358360:S1722I	S	-	2	0	PDE4DIP	143583154	0.999000	0.42202	0.946000	0.38457	0.301000	0.27625	3.832000	0.55783	2.834000	0.97654	0.650000	0.86243	AGC		PASS	0.552	PDE4DIP-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000038858.2	NM_022359		82	166	82	166	---	---	---	---
NOTCH2NL	388677	broad.mit.edu	37	1	145281564	145281564	+	Missense_Mutation	SNP	C	C	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr1:145281564C>T	ENST00000369340.3	+	5	938	c.494C>T	c.(493-495)tCc>tTc	p.S165F	NOTCH2NL_ENST00000344859.3_Missense_Mutation_p.S165F|RP11-458D21.5_ENST00000468030.1_Missense_Mutation_p.S165F|NOTCH2NL_ENST00000362074.6_Missense_Mutation_p.S165F			Q7Z3S9	NT2NL_HUMAN	notch 2 N-terminal like	165	EGF-like 5; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|Notch signaling pathway (GO:0007219)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)	calcium ion binding (GO:0005509)	p.S165F(4)		NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	27						CTGCCTGGTTCCTACCAGTGC	0.577																																						uc001emn.3																			4	Substitution - Missense(4)		NS(2)|lung(2)	ovary(1)	1						c.(493-495)TCC>TTC		Notch homolog 2 N-terminal like protein							169.0	171.0	171.0					1																	145281564		2203	4300	6503	SO:0001583	missense	388677				cell differentiation|multicellular organismal development|Notch signaling pathway	cytoplasm|extracellular region	calcium ion binding	g.chr1:145281564C>T		CCDS72880.1	1q21.2	2010-06-24	2010-06-24		ENSG00000213240	ENSG00000213240			31862	protein-coding gene	gene with protein product			"""Notch homolog 2 (Drosophila) N-terminal like"""			14673143	Standard	NM_203458		Approved	N2N	uc001emn.4	Q7Z3S9	OTTHUMG00000013754	ENST00000369340.3:c.494C>T	1.37:g.145281564C>T	ENSP00000358346:p.Ser165Phe					NBPF10_uc009wir.2_Intron|NBPF9_uc010oye.1_Intron|NBPF9_uc010oyf.1_Intron|NBPF9_uc010oyg.1_Intron|NBPF10_uc001emp.3_5'UTR|NOTCH2NL_uc001emm.3_Missense_Mutation_p.S165F|NOTCH2NL_uc001emo.2_Missense_Mutation_p.S165F|NOTCH2NL_uc010oyh.1_RNA	p.S165F	NM_203458	NP_982283	Q7Z3S9	NT2NL_HUMAN			4	864	+			165			EGF-like 5; calcium-binding (Potential).		Q5BKT8|Q5VTG9|Q5XG84|Q6P192|Q8NC23|Q8WUQ9|Q96FY1	Missense_Mutation	SNP	ENST00000369340.3	37	c.494C>T	CCDS909.1	.	.	.	.	.	.	.	.	.	.	C	18.26	3.584913	0.65992	.	.	ENSG00000213240	ENST00000362074;ENST00000344859;ENST00000369340	D;D;D	0.88664	-2.41;-2.41;-2.41	2.87	2.87	0.33458	EGF-like calcium-binding, conserved site (1);EGF-like calcium-binding (2);Epidermal growth factor-like, type 3 (1);	.	.	.	.	D	0.93154	0.7820	M	0.88979	2.995	0.30451	N	0.775247	D;D	0.89917	0.999;1.0	D;D	0.97110	0.996;1.0	D	0.87856	0.2661	9	0.72032	D	0.01	.	11.5361	0.50639	0.0:1.0:0.0:0.0	.	165;165	Q7Z3S9-2;Q7Z3S9	.;NT2NL_HUMAN	F	165	ENSP00000354929:S165F;ENSP00000344557:S165F;ENSP00000358346:S165F	ENSP00000344557:S165F	S	+	2	0	NOTCH2NL	143992921	0.998000	0.40836	1.000000	0.80357	0.942000	0.58702	4.701000	0.61810	1.601000	0.50113	0.400000	0.26472	TCC		PASS	0.577	NOTCH2NL-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000038546.1	NM_203458		28	239	28	239	---	---	---	---
BOLA1	51027	broad.mit.edu	37	1	149871789	149871789	+	Silent	SNP	G	G	C			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr1:149871789G>C	ENST00000369153.2	+	3	841	c.177G>C	c.(175-177)gcG>gcC	p.A59A	BOLA1_ENST00000476344.1_3'UTR|BOLA1_ENST00000369152.5_Silent_p.A59A|BOLA1_ENST00000369150.1_Silent_p.A59A			Q9Y3E2	BOLA1_HUMAN	bolA family member 1	59						extracellular region (GO:0005576)|mitochondrion (GO:0005739)		p.A59A(1)		endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)	10	Breast(34;0.0124)|all_hematologic(923;0.127)		STAD - Stomach adenocarcinoma(528;0.133)|LUSC - Lung squamous cell carcinoma(543;0.221)			GTGGCCACGCGGTCCCGCCTG	0.682																																						uc001etf.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(175-177)GCG>GCC		bolA-like 1							37.0	35.0	36.0					1																	149871789		2203	4299	6502	SO:0001819	synonymous_variant	51027					extracellular region	protein binding	g.chr1:149871789G>C	AF151901	CCDS939.1	1q21	2013-09-02	2013-09-02		ENSG00000178096	ENSG00000178096			24263	protein-coding gene	gene with protein product		613181	"""bolA-like 1 (E. coli)"", ""bolA homolog 1 (E. coli)"""			14718656	Standard	NM_016074		Approved	CGI-143	uc001etf.3	Q9Y3E2	OTTHUMG00000012087	ENST00000369153.2:c.177G>C	1.37:g.149871789G>C							p.A59A	NM_016074	NP_057158	Q9Y3E2	BOLA1_HUMAN	STAD - Stomach adenocarcinoma(528;0.133)|LUSC - Lung squamous cell carcinoma(543;0.221)		2	298	+	Breast(34;0.0124)|all_hematologic(923;0.127)		59					B2R7K2|D3DUZ4|Q5QNY0	Silent	SNP	ENST00000369153.2	37	c.177G>C	CCDS939.1																																																																																				PASS	0.682	BOLA1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033443.2	NM_016074		16	45	16	45	---	---	---	---
OTUD7B	56957	broad.mit.edu	37	1	149943093	149943093	+	Missense_Mutation	SNP	C	C	G			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr1:149943093C>G	ENST00000369135.4	-	3	466	c.172G>C	c.(172-174)Gag>Cag	p.E58Q	OTUD7B_ENST00000479905.1_5'UTR	NM_020205.2	NP_064590.2	Q6GQQ9	OTU7B_HUMAN	OTU deubiquitinase 7B	58					mucosal immune response (GO:0002385)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of interleukin-8 production (GO:0032717)|negative regulation of protein localization to nucleus (GO:1900181)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|protein K11-linked deubiquitination (GO:0035871)|protein K48-linked deubiquitination (GO:0071108)|protein K63-linked deubiquitination (GO:0070536)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	cysteine-type peptidase activity (GO:0008234)|DNA binding (GO:0003677)|Lys48-specific deubiquitinase activity (GO:1990380)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)	p.E58Q(1)		breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(18)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39	Breast(34;0.0009)|Ovarian(49;0.0265)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.247)			CCACTCCCCTCACTAAAGGAT	0.542																																						uc001etn.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|breast(1)|skin(1)	3						c.(172-174)GAG>CAG		zinc finger protein Cezanne							88.0	88.0	88.0					1																	149943093		1898	4135	6033	SO:0001583	missense	56957				negative regulation of I-kappaB kinase/NF-kappaB cascade	cytoplasm|microtubule cytoskeleton|nucleus	cysteine-type peptidase activity|DNA binding|protein binding|zinc ion binding	g.chr1:149943093C>G	AJ293573	CCDS72903.1	1q21.2	2014-02-24	2014-02-24	2006-07-07	ENSG00000163113	ENSG00000264522		"""OTU domain containing"""	16683	protein-coding gene	gene with protein product		611748	"""zinc finger, A20 domain containing 1"", ""OTU domain containing 7B"""	ZA20D1		11463333, 23827681	Standard	NM_020205		Approved	CEZANNE	uc001etn.3	Q6GQQ9	OTTHUMG00000012291	ENST00000369135.4:c.172G>C	1.37:g.149943093C>G	ENSP00000358131:p.Glu58Gln					OTUD7B_uc001eto.2_Silent_p.V23V	p.E58Q	NM_020205	NP_064590	Q6GQQ9	OTU7B_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.247)		3	528	-	Breast(34;0.0009)|Ovarian(49;0.0265)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		58					B7Z643|D3DUZ8|Q5SZ60|Q8WWA7|Q9NQ53|Q9UFF4	Missense_Mutation	SNP	ENST00000369135.4	37	c.172G>C	CCDS41389.1	.	.	.	.	.	.	.	.	.	.	C	20.7	4.042223	0.75732	.	.	ENSG00000163113	ENST00000369135;ENST00000543330;ENST00000417191	T;T	0.35973	1.28;1.41	5.34	5.34	0.76211	.	0.051302	0.85682	D	0.000000	T	0.39886	0.1095	L	0.58101	1.795	0.46096	D	0.998863	P	0.50369	0.934	P	0.53006	0.715	T	0.04946	-1.0916	9	.	.	.	-9.6877	17.776	0.88508	0.0:1.0:0.0:0.0	.	58	Q6GQQ9	OTU7B_HUMAN	Q	58	ENSP00000358131:E58Q;ENSP00000408231:E58Q	.	E	-	1	0	OTUD7B	148209717	1.000000	0.71417	1.000000	0.80357	0.878000	0.50629	7.236000	0.78154	2.776000	0.95493	0.650000	0.86243	GAG		PASS	0.542	OTUD7B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034146.3	NM_020205		55	71	55	71	---	---	---	---
ANXA9	8416	broad.mit.edu	37	1	150958880	150958880	+	Missense_Mutation	SNP	G	G	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr1:150958880G>T	ENST00000368947.4	+	8	1017	c.541G>T	c.(541-543)Gcc>Tcc	p.A181S		NM_003568.2	NP_003559.2	O76027	ANXA9_HUMAN	annexin A9	181					single organismal cell-cell adhesion (GO:0016337)|synaptic transmission (GO:0007268)	cell surface (GO:0009986)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	acetylcholine receptor activity (GO:0015464)|calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|phosphatidylserine binding (GO:0001786)|phospholipid binding (GO:0005543)|protein homodimerization activity (GO:0042803)	p.A181S(1)		endometrium(1)|large_intestine(1)|lung(4)|skin(2)	8	all_lung(15;1.09e-34)|Lung NSC(24;1.1e-30)|Lung SC(34;0.00202)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)			CCTGCTGTTGGCCCTGGCCAA	0.577																																						uc001ewa.2																			1	Substitution - Missense(1)		lung(1)		0						c.(541-543)GCC>TCC		annexin A9							69.0	59.0	62.0					1																	150958880		2203	4300	6503	SO:0001583	missense	8416				cell-cell adhesion	cell surface|cytosol	acetylcholine receptor activity|calcium ion binding|calcium-dependent phospholipid binding|phosphatidylserine binding|protein homodimerization activity	g.chr1:150958880G>T	AJ009985	CCDS975.2	1q21.2	2008-02-05			ENSG00000143412	ENSG00000143412		"""Annexins"""	547	protein-coding gene	gene with protein product		603319		ANX31		9742942, 9931420	Standard	NM_003568		Approved		uc001ewa.2	O76027	OTTHUMG00000035063	ENST00000368947.4:c.541G>T	1.37:g.150958880G>T	ENSP00000357943:p.Ala181Ser						p.A181S	NM_003568	NP_003559	O76027	ANXA9_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)		8	1011	+	all_lung(15;1.09e-34)|Lung NSC(24;1.1e-30)|Lung SC(34;0.00202)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		181			Annexin 2.		Q5SZF1|Q6FI55|Q9BS00|Q9HBJ6	Missense_Mutation	SNP	ENST00000368947.4	37	c.541G>T	CCDS975.2	.	.	.	.	.	.	.	.	.	.	G	7.160	0.585489	0.13749	.	.	ENSG00000143412	ENST00000368947	T	0.04551	3.6	4.95	4.03	0.46877	.	0.201890	0.41294	D	0.000916	T	0.01695	0.0054	L	0.35854	1.095	0.47778	D	0.999512	P	0.35328	0.495	B	0.42555	0.391	T	0.19976	-1.0289	10	0.02654	T	1	.	9.1544	0.36983	0.102:0.0:0.898:0.0	.	181	O76027	ANXA9_HUMAN	S	181	ENSP00000357943:A181S	ENSP00000357943:A181S	A	+	1	0	ANXA9	149225504	1.000000	0.71417	0.997000	0.53966	0.007000	0.05969	2.099000	0.41767	1.215000	0.43411	0.462000	0.41574	GCC		PASS	0.577	ANXA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084895.2	NM_003568		25	48	25	48	---	---	---	---
GABPB2	126626	broad.mit.edu	37	1	151070370	151070370	+	Missense_Mutation	SNP	A	A	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr1:151070370A>T	ENST00000368918.3	+	5	845	c.514A>T	c.(514-516)Aac>Tac	p.N172Y	GABPB2_ENST00000368917.1_Missense_Mutation_p.N172Y|GABPB2_ENST00000467551.1_3'UTR|GABPB2_ENST00000368916.1_Missense_Mutation_p.N172Y	NM_144618.2	NP_653219.1	Q8TAK5	GABP2_HUMAN	GA binding protein transcription factor, beta subunit 2	172					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	protein heterodimerization activity (GO:0046982)|transcription regulatory region DNA binding (GO:0044212)	p.N172Y(1)		breast(1)|endometrium(2)|large_intestine(3)|liver(2)|lung(7)	15				all cancers(107;7.17e-05)|GBM - Glioblastoma multiforme(94;0.000662)		AGAGAGAGCCAACCCTGTGAC	0.433																																						uc001ewr.2																			1	Substitution - Missense(1)		lung(1)		0						c.(514-516)AAC>TAC		GA repeat binding protein, beta 2							165.0	144.0	151.0					1																	151070370		2203	4300	6503	SO:0001583	missense	126626				positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	protein heterodimerization activity|transcription regulatory region DNA binding	g.chr1:151070370A>T		CCDS983.1	1q21.2	2013-01-10			ENSG00000143458	ENSG00000143458		"""Ankyrin repeat domain containing"""	28441	protein-coding gene	gene with protein product						7958862	Standard	NM_144618		Approved	MGC29891	uc001ewr.2	Q8TAK5	OTTHUMG00000012193	ENST00000368918.3:c.514A>T	1.37:g.151070370A>T	ENSP00000357914:p.Asn172Tyr					GABPB2_uc010pcp.1_Missense_Mutation_p.N188Y|GABPB2_uc001ews.2_Missense_Mutation_p.N132Y|GABPB2_uc001ewt.2_Missense_Mutation_p.N71Y	p.N172Y	NM_144618	NP_653219	Q8TAK5	GABP2_HUMAN		all cancers(107;7.17e-05)|GBM - Glioblastoma multiforme(94;0.000662)	5	845	+			172					B1AVJ8|D3DV14|Q8NAR5	Missense_Mutation	SNP	ENST00000368918.3	37	c.514A>T	CCDS983.1	.	.	.	.	.	.	.	.	.	.	A	13.10	2.137470	0.37728	.	.	ENSG00000143458	ENST00000368918;ENST00000368917;ENST00000446567;ENST00000368916	T;T;T	0.60171	0.25;0.21;0.21	5.46	3.18	0.36537	.	0.335919	0.30011	N	0.010628	T	0.41696	0.1170	L	0.50333	1.59	0.31234	N	0.695987	D;D;P;D	0.69078	0.997;0.963;0.897;0.971	P;P;P;P	0.57679	0.825;0.642;0.707;0.646	T	0.26815	-1.0092	10	0.15952	T	0.53	-5.1082	6.9742	0.24666	0.6748:0.0:0.3252:0.0	.	188;172;172;172	B4DXA3;Q5SZG2;B2R924;Q8TAK5	.;.;.;GABP2_HUMAN	Y	172;172;188;172	ENSP00000357914:N172Y;ENSP00000357913:N172Y;ENSP00000357912:N172Y	ENSP00000357912:N172Y	N	+	1	0	GABPB2	149336994	0.779000	0.28652	0.984000	0.44739	0.010000	0.07245	1.097000	0.30988	0.524000	0.28502	-0.256000	0.11100	AAC		PASS	0.433	GABPB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033700.2	NM_144618		48	102	48	102	---	---	---	---
TCHHL1	126637	broad.mit.edu	37	1	152057894	152057894	+	Missense_Mutation	SNP	G	G	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr1:152057894G>T	ENST00000368806.1	-	3	2328	c.2264C>A	c.(2263-2265)gCa>gAa	p.A755E		NM_001008536.1	NP_001008536.1	Q5QJ38	TCHL1_HUMAN	trichohyalin-like 1	755							calcium ion binding (GO:0005509)	p.A755E(1)		breast(4)|endometrium(1)|kidney(2)|large_intestine(9)|lung(33)|ovary(2)|prostate(1)|skin(7)|stomach(1)	60	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.246)			ACCTTCTCCTGCCAGCTCTTG	0.473																																						uc001ezo.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(2263-2265)GCA>GAA		trichohyalin-like 1							146.0	146.0	146.0					1																	152057894		2203	4300	6503	SO:0001583	missense	126637						calcium ion binding	g.chr1:152057894G>T		CCDS30857.1	1q21.3	2011-10-11	2004-10-05	2006-01-27	ENSG00000182898	ENSG00000182898		"""S100 calcium binding proteins"""	31796	protein-coding gene	gene with protein product			"""S100 calcium binding protein A17"""	S100A17, THHL1			Standard	NM_001008536		Approved		uc001ezo.1	Q5QJ38	OTTHUMG00000013058	ENST00000368806.1:c.2264C>A	1.37:g.152057894G>T	ENSP00000357796:p.Ala755Glu						p.A755E	NM_001008536	NP_001008536	Q5QJ38	TCHL1_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.246)		3	2329	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		755					B2RPK8|Q5VTJ9	Missense_Mutation	SNP	ENST00000368806.1	37	c.2264C>A	CCDS30857.1	.	.	.	.	.	.	.	.	.	.	.	13.73	2.325320	0.41197	.	.	ENSG00000182898	ENST00000368806	T	0.32023	1.47	4.98	0.783	0.18572	.	0.232964	0.22191	N	0.063379	T	0.04861	0.0131	L	0.43152	1.355	0.09310	N	1	P	0.41978	0.767	B	0.36922	0.236	T	0.40887	-0.9539	10	0.02654	T	1	0.3711	3.7049	0.08397	0.1889:0.0:0.4705:0.3406	.	755	Q5QJ38	TCHL1_HUMAN	E	755	ENSP00000357796:A755E	ENSP00000357796:A755E	A	-	2	0	TCHHL1	150324518	0.004000	0.15560	0.007000	0.13788	0.382000	0.30200	0.501000	0.22578	-0.115000	0.11915	0.561000	0.74099	GCA		PASS	0.473	TCHHL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036638.2	XM_060104		116	263	116	263	---	---	---	---
TCHHL1	126637	broad.mit.edu	37	1	152058212	152058212	+	Missense_Mutation	SNP	G	G	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr1:152058212G>T	ENST00000368806.1	-	3	2010	c.1946C>A	c.(1945-1947)cCc>cAc	p.P649H		NM_001008536.1	NP_001008536.1	Q5QJ38	TCHL1_HUMAN	trichohyalin-like 1	649							calcium ion binding (GO:0005509)	p.P649H(1)		breast(4)|endometrium(1)|kidney(2)|large_intestine(9)|lung(33)|ovary(2)|prostate(1)|skin(7)|stomach(1)	60	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.246)			GTGTCCATTGGGCTCCACAGC	0.537																																						uc001ezo.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(1945-1947)CCC>CAC		trichohyalin-like 1							144.0	140.0	141.0					1																	152058212		2203	4300	6503	SO:0001583	missense	126637						calcium ion binding	g.chr1:152058212G>T		CCDS30857.1	1q21.3	2011-10-11	2004-10-05	2006-01-27	ENSG00000182898	ENSG00000182898		"""S100 calcium binding proteins"""	31796	protein-coding gene	gene with protein product			"""S100 calcium binding protein A17"""	S100A17, THHL1			Standard	NM_001008536		Approved		uc001ezo.1	Q5QJ38	OTTHUMG00000013058	ENST00000368806.1:c.1946C>A	1.37:g.152058212G>T	ENSP00000357796:p.Pro649His						p.P649H	NM_001008536	NP_001008536	Q5QJ38	TCHL1_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.246)		3	2011	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		649					B2RPK8|Q5VTJ9	Missense_Mutation	SNP	ENST00000368806.1	37	c.1946C>A	CCDS30857.1	.	.	.	.	.	.	.	.	.	.	.	14.54	2.565666	0.45694	.	.	ENSG00000182898	ENST00000368806	T	0.30448	1.53	5.26	2.34	0.29019	.	0.978321	0.08305	N	0.966330	T	0.24509	0.0594	L	0.58101	1.795	0.09310	N	1	D	0.69078	0.997	P	0.56865	0.808	T	0.08493	-1.0719	10	0.44086	T	0.13	0.7778	5.4831	0.16735	0.1806:0.1643:0.6551:0.0	.	649	Q5QJ38	TCHL1_HUMAN	H	649	ENSP00000357796:P649H	ENSP00000357796:P649H	P	-	2	0	TCHHL1	150324836	0.005000	0.15991	0.000000	0.03702	0.004000	0.04260	1.167000	0.31847	0.224000	0.20940	0.650000	0.86243	CCC		PASS	0.537	TCHHL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036638.2	XM_060104		108	193	108	193	---	---	---	---
TCHH	7062	broad.mit.edu	37	1	152083673	152083673	+	Missense_Mutation	SNP	G	G	C			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr1:152083673G>C	ENST00000368804.1	-	2	2019	c.2020C>G	c.(2020-2022)Cgc>Ggc	p.R674G		NM_007113.2	NP_009044.2	Q07283	TRHY_HUMAN	trichohyalin	674	9 X 28 AA approximate tandem repeats.				keratinization (GO:0031424)	cytoskeleton (GO:0005856)	calcium ion binding (GO:0005509)	p.R674G(1)		NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4)	105	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TCATGCTCGCGCTTCAGCCGC	0.657																																						uc001ezp.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|kidney(1)|central_nervous_system(1)	5						c.(2020-2022)CGC>GGC		trichohyalin							44.0	51.0	49.0					1																	152083673		2030	4181	6211	SO:0001583	missense	7062				keratinization	cytoskeleton	calcium ion binding	g.chr1:152083673G>C	L09190	CCDS41396.1	1q21-q23	2013-01-10		2006-01-27	ENSG00000159450	ENSG00000159450		"""EF-hand domain containing"""	11791	protein-coding gene	gene with protein product		190370		THH		1431214	Standard	NM_007113		Approved		uc001ezp.3	Q07283	OTTHUMG00000013066	ENST00000368804.1:c.2020C>G	1.37:g.152083673G>C	ENSP00000357794:p.Arg674Gly					TCHH_uc009wne.1_Missense_Mutation_p.R674G	p.R674G	NM_007113	NP_009044	Q07283	TRHY_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		2	2020	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		674			9 X 28 AA approximate tandem repeats.		Q5VUI3	Missense_Mutation	SNP	ENST00000368804.1	37	c.2020C>G	CCDS41396.1	.	.	.	.	.	.	.	.	.	.	g	8.079	0.771914	0.16051	.	.	ENSG00000159450	ENST00000368804	T	0.08102	3.13	3.5	0.999	0.19862	.	.	.	.	.	T	0.01765	0.0056	N	0.24115	0.695	0.09310	N	1	P	0.52842	0.956	B	0.42851	0.4	T	0.46233	-0.9206	9	0.25106	T	0.35	.	6.2231	0.20693	0.0:0.1567:0.4874:0.3559	.	674	Q07283	TRHY_HUMAN	G	674	ENSP00000357794:R674G	ENSP00000357794:R674G	R	-	1	0	TCHH	150350297	0.419000	0.25449	0.003000	0.11579	0.227000	0.25037	0.923000	0.28757	0.421000	0.25980	0.299000	0.19835	CGC		PASS	0.657	TCHH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036671.2	NM_007113		48	71	48	71	---	---	---	---
HRNR	388697	broad.mit.edu	37	1	152193146	152193146	+	Missense_Mutation	SNP	G	G	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr1:152193146G>T	ENST00000368801.2	-	3	1034	c.959C>A	c.(958-960)tCc>tAc	p.S320Y	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	320					establishment of skin barrier (GO:0061436)|hematopoietic progenitor cell differentiation (GO:0002244)|keratinization (GO:0031424)	cornified envelope (GO:0001533)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)	p.S320Y(1)		autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GCCGTGGCTGGAGGAGTGCCC	0.607																																						uc001ezt.1																			1	Substitution - Missense(1)		lung(1)	skin(2)|ovary(1)	3						c.(958-960)TCC>TAC		hornerin							81.0	91.0	87.0					1																	152193146		2203	4300	6503	SO:0001583	missense	388697				keratinization		calcium ion binding|protein binding	g.chr1:152193146G>T	AB104446	CCDS30859.1	1q21.3	2013-01-10			ENSG00000197915	ENSG00000197915		"""EF-hand domain containing"""	20846	protein-coding gene	gene with protein product	"""filaggrin family member 3"""						Standard	NM_001009931		Approved	S100a18, S100A16, FLG3	uc001ezt.2	Q86YZ3	OTTHUMG00000012243	ENST00000368801.2:c.959C>A	1.37:g.152193146G>T	ENSP00000357791:p.Ser320Tyr						p.S320Y	NM_001009931	NP_001009931	Q86YZ3	HORN_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	1035	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		320			3.		Q5DT20|Q5U1F4	Missense_Mutation	SNP	ENST00000368801.2	37	c.959C>A	CCDS30859.1	.	.	.	.	.	.	.	.	.	.	G	6.835	0.523293	0.13066	.	.	ENSG00000197915	ENST00000368801	T	0.03982	3.74	3.83	1.88	0.25563	.	.	.	.	.	T	0.01061	0.0035	L	0.27053	0.805	0.09310	N	1	B	0.24186	0.099	B	0.18561	0.022	T	0.47983	-0.9074	9	0.32370	T	0.25	.	5.8069	0.18444	0.1073:0.0:0.7005:0.1922	.	320	Q86YZ3	HORN_HUMAN	Y	320	ENSP00000357791:S320Y	ENSP00000357791:S320Y	S	-	2	0	HRNR	150459770	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.353000	0.20130	0.272000	0.22027	0.644000	0.83932	TCC		PASS	0.607	HRNR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034016.1	XM_373868		51	66	51	66	---	---	---	---
FLG	2312	broad.mit.edu	37	1	152286978	152286978	+	Silent	SNP	C	C	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr1:152286978C>T	ENST00000368799.1	-	3	419	c.384G>A	c.(382-384)ctG>ctA	p.L128L	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000392688.2_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	128					establishment of skin barrier (GO:0061436)|keratinocyte differentiation (GO:0030216)|multicellular organismal development (GO:0007275)	cytoplasmic membrane-bounded vesicle (GO:0016023)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)	p.L128L(1)		autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TTCTTCTTTCCAGACTTGAGG	0.373									Ichthyosis																													uc001ezu.1																			1	Substitution - coding silent(1)		lung(1)	ovary(9)|skin(4)|upper_aerodigestive_tract(3)	16						c.(382-384)CTG>CTA		filaggrin							167.0	177.0	174.0					1																	152286978		2203	4300	6503	SO:0001819	synonymous_variant	2312	Ichthyosis	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	g.chr1:152286978C>T	XM_048104	CCDS30860.1	1q21.3	2013-01-10			ENSG00000143631	ENSG00000143631		"""EF-hand domain containing"""	3748	protein-coding gene	gene with protein product		135940				2740331, 2248957, 16444271	Standard	NM_002016		Approved		uc001ezu.1	P20930	OTTHUMG00000012202	ENST00000368799.1:c.384G>A	1.37:g.152286978C>T						uc001ezv.2_Intron	p.L128L	NM_002016	NP_002007	P20930	FILA_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	420	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		128					Q01720|Q5T583|Q9UC71	Silent	SNP	ENST00000368799.1	37	c.384G>A	CCDS30860.1																																																																																				PASS	0.373	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	NM_002016		73	221	73	221	---	---	---	---
CRNN	49860	broad.mit.edu	37	1	152382453	152382453	+	Nonsense_Mutation	SNP	C	C	A	rs369635124		TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr1:152382453C>A	ENST00000271835.3	-	3	1167	c.1105G>T	c.(1105-1107)Gga>Tga	p.G369*	RP1-91G5.3_ENST00000411804.1_RNA	NM_016190.2	NP_057274.1	Q9UBG3	CRNN_HUMAN	cornulin	369	Gln-rich.				response to heat (GO:0009408)|single organismal cell-cell adhesion (GO:0016337)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	calcium ion binding (GO:0005509)	p.G369*(1)		breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(16)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			CTAGCCCCTCCGTGGCTTACA	0.592																																						uc001ezx.2																			1	Substitution - Nonsense(1)		lung(1)	ovary(2)|skin(1)	3						c.(1105-1107)GGA>TGA		cornulin							186.0	157.0	167.0					1																	152382453		2203	4300	6503	SO:0001587	stop_gained	49860				cell-cell adhesion|response to heat	cytoplasm|membrane	calcium ion binding	g.chr1:152382453C>A	AF077831	CCDS1010.1	1q21	2014-01-28	2005-06-13	2005-06-13	ENSG00000143536	ENSG00000143536		"""EF-hand domain containing"""	1230	protein-coding gene	gene with protein product		611312	"""chromosome 1 open reading frame 10"""	C1orf10		11056050, 15854041	Standard	NM_016190		Approved	SEP53	uc001ezx.2	Q9UBG3	OTTHUMG00000012383	ENST00000271835.3:c.1105G>T	1.37:g.152382453C>A	ENSP00000271835:p.Gly369*						p.G369*	NM_016190	NP_057274	Q9UBG3	CRNN_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	1179	-	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		369			Gln-rich.		B2RE60|Q8N613	Nonsense_Mutation	SNP	ENST00000271835.3	37	c.1105G>T	CCDS1010.1	.	.	.	.	.	.	.	.	.	.	C	14.19	2.461446	0.43736	.	.	ENSG00000143536	ENST00000271835	.	.	.	4.27	-7.49	0.01355	.	4.004310	0.00447	N	0.000097	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.23891	T	0.37	.	2.7143	0.05183	0.1209:0.2342:0.12:0.5249	.	.	.	.	X	369	.	ENSP00000271835:G369X	G	-	1	0	CRNN	150649077	0.000000	0.05858	0.000000	0.03702	0.018000	0.09664	-4.154000	0.00284	-1.194000	0.02684	0.585000	0.79938	GGA		PASS	0.592	CRNN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034503.1	NM_016190		108	233	108	233	---	---	---	---
KPRP	448834	broad.mit.edu	37	1	152732350	152732350	+	Missense_Mutation	SNP	G	G	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr1:152732350G>T	ENST00000606109.1	+	1	314	c.286G>T	c.(286-288)Ggc>Tgc	p.G96C	KPRP_ENST00000368773.1_Missense_Mutation_p.G96C			Q5T749	KPRP_HUMAN	keratinocyte proline-rich protein	96	Gln-rich.					cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)		p.G96C(1)		NS(1)|breast(1)|endometrium(9)|kidney(1)|large_intestine(10)|lung(21)|ovary(6)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			CCAGGTGAAGGGCCAGGCTGC	0.552																																						uc001fal.1																			1	Substitution - Missense(1)		lung(1)	ovary(4)|pancreas(1)	5						c.(286-288)GGC>TGC		keratinocyte proline-rich protein							212.0	192.0	199.0					1																	152732350		2203	4300	6503	SO:0001583	missense	448834					cytoplasm		g.chr1:152732350G>T	AY960854	CCDS30862.1	1q21.3	2008-02-05	2007-02-02	2006-12-07	ENSG00000203786	ENSG00000203786			31823	protein-coding gene	gene with protein product		613260	"""chromosome 1 open reading frame 45"""	C1orf45		16297201	Standard	NM_001025231		Approved		uc001fal.1	Q5T749	OTTHUMG00000012402	ENST00000606109.1:c.286G>T	1.37:g.152732350G>T	ENSP00000475216:p.Gly96Cys						p.G96C	NM_001025231	NP_001020402	Q5T749	KPRP_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		2	344	+	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		96			Gln-rich.			Missense_Mutation	SNP	ENST00000606109.1	37	c.286G>T	CCDS30862.1	.	.	.	.	.	.	.	.	.	.	G	1.988	-0.432495	0.04669	.	.	ENSG00000203786	ENST00000368773	T	0.11169	2.8	5.78	-11.6	0.00059	.	1.346220	0.05014	N	0.471511	T	0.00906	0.0030	N	0.02539	-0.55	0.09310	N	1	B	0.14012	0.009	B	0.15484	0.013	T	0.48103	-0.9064	10	0.41790	T	0.15	1.1728	10.7383	0.46139	0.3176:0.0:0.5698:0.1126	.	96	Q5T749	KPRP_HUMAN	C	96	ENSP00000357762:G96C	ENSP00000357762:G96C	G	+	1	0	KPRP	150998974	0.000000	0.05858	0.000000	0.03702	0.181000	0.23173	-1.139000	0.03213	-4.403000	0.00051	-0.136000	0.14681	GGC		PASS	0.552	KPRP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034522.2	NM_001025231		151	264	151	264	---	---	---	---
GATAD2B	57459	broad.mit.edu	37	1	153791379	153791379	+	Missense_Mutation	SNP	C	C	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr1:153791379C>A	ENST00000368655.4	-	4	728	c.485G>T	c.(484-486)cGg>cTg	p.R162L		NM_020699.2	NP_065750.1	Q8WXI9	P66B_HUMAN	GATA zinc finger domain containing 2B	162					ATP-dependent chromatin remodeling (GO:0043044)|transcription, DNA-templated (GO:0006351)	nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|protein complex (GO:0043234)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)	p.R162L(1)		breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(5)|lung(12)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	38	all_lung(78;1.34e-32)|Lung NSC(65;1.04e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			AAGCTGCTGCCGCTCCTCAAT	0.468																																						uc001fdb.3																			1	Substitution - Missense(1)		lung(1)		0						c.(484-486)CGG>CTG		GATA zinc finger domain containing 2B							95.0	93.0	93.0					1																	153791379		2203	4300	6503	SO:0001583	missense	57459					nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr1:153791379C>A	AF411836	CCDS1054.1	1q21.3	2013-01-25			ENSG00000143614	ENSG00000143614		"""GATA zinc finger domain containing"""	30778	protein-coding gene	gene with protein product	"""transcription repressor p66 beta component of the MeCP1 complex"""	614998				10574461, 11756549	Standard	NM_020699		Approved	P66beta	uc001fdb.4	Q8WXI9	OTTHUMG00000037162	ENST00000368655.4:c.485G>T	1.37:g.153791379C>A	ENSP00000357644:p.Arg162Leu						p.R162L	NM_020699	NP_065750	Q8WXI9	P66B_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.151)		4	729	-	all_lung(78;1.34e-32)|Lung NSC(65;1.04e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		162			Potential.		D3DUZ2|Q5VUR2|Q7LG68|Q9ULS0	Missense_Mutation	SNP	ENST00000368655.4	37	c.485G>T	CCDS1054.1	.	.	.	.	.	.	.	.	.	.	C	35	5.463185	0.96257	.	.	ENSG00000143614	ENST00000368655	T	0.58060	0.36	5.83	5.83	0.93111	.	0.000000	0.85682	D	0.000000	T	0.65228	0.2671	L	0.60455	1.87	0.80722	D	1	D	0.63880	0.993	D	0.71184	0.972	T	0.66052	-0.6019	10	0.72032	D	0.01	-19.9611	18.8933	0.92413	0.0:1.0:0.0:0.0	.	162	Q8WXI9	P66B_HUMAN	L	162	ENSP00000357644:R162L	ENSP00000357644:R162L	R	-	2	0	GATAD2B	152058003	1.000000	0.71417	1.000000	0.80357	0.935000	0.57460	7.796000	0.85898	2.763000	0.94921	0.561000	0.74099	CGG		PASS	0.468	GATAD2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090305.1	NM_020699		65	95	65	95	---	---	---	---
ADAR	103	broad.mit.edu	37	1	154574229	154574229	+	Missense_Mutation	SNP	C	C	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr1:154574229C>A	ENST00000368474.4	-	2	1088	c.889G>T	c.(889-891)Gcc>Tcc	p.A297S	ADAR_ENST00000471068.1_5'Flank|ADAR_ENST00000368471.3_Missense_Mutation_p.A2S|ADAR_ENST00000292205.5_Missense_Mutation_p.A340S	NM_001111.4|NM_015840.3|NM_015841.3	NP_001102|NP_056655.2|NP_056656.2	P55265	DSRAD_HUMAN	adenosine deaminase, RNA-specific	297					adenosine to inosine editing (GO:0006382)|base conversion or substitution editing (GO:0016553)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|gene expression (GO:0010467)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|miRNA loading onto RISC involved in gene silencing by miRNA (GO:0035280)|mRNA modification (GO:0016556)|mRNA processing (GO:0006397)|negative regulation of apoptotic process (GO:0043066)|negative regulation of protein kinase activity by regulation of protein phosphorylation (GO:0044387)|negative regulation of viral genome replication (GO:0045071)|positive regulation of viral genome replication (GO:0045070)|pre-miRNA processing (GO:0031054)|protein export from nucleus (GO:0006611)|protein import into nucleus (GO:0006606)|response to interferon-alpha (GO:0035455)|response to virus (GO:0009615)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|supraspliceosomal complex (GO:0044530)	DNA binding (GO:0003677)|double-stranded RNA adenosine deaminase activity (GO:0003726)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)	p.A297S(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|lung(20)|ovary(4)|prostate(2)|skin(2)	51	all_lung(78;2.22e-29)|Lung NSC(65;3.66e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.0997)		LUSC - Lung squamous cell carcinoma(543;0.185)	Colorectal(1306;0.115)		TTGATCTCGGCCATGTCTAAA	0.468																																						uc001ffh.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|breast(1)|central_nervous_system(1)|skin(1)	6						c.(889-891)GCC>TCC		adenosine deaminase, RNA-specific isoform a							116.0	120.0	119.0					1																	154574229		2203	4300	6503	SO:0001583	missense	103				adenosine to inosine editing|gene silencing by RNA|mRNA modification|mRNA processing|type I interferon-mediated signaling pathway	cytoplasm|nucleolus|nucleoplasm	DNA binding|double-stranded RNA adenosine deaminase activity|metal ion binding	g.chr1:154574229C>A	BC038227	CCDS1071.1, CCDS30879.1	1q21.3	2012-03-22			ENSG00000160710	ENSG00000160710	3.5.4.-		225	protein-coding gene	gene with protein product		146920	"""interferon-induced protein 4"""	IFI4, G1P1		7972084	Standard	NM_001111		Approved	ADAR1	uc001ffh.3	P55265	OTTHUMG00000037261	ENST00000368474.4:c.889G>T	1.37:g.154574229C>A	ENSP00000357459:p.Ala297Ser					ADAR_uc001ffj.2_Missense_Mutation_p.A297S|ADAR_uc001ffi.2_Missense_Mutation_p.A297S|ADAR_uc001ffk.2_Missense_Mutation_p.A2S|ADAR_uc001ffl.1_Missense_Mutation_p.A2S	p.A297S	NM_001111	NP_001102	P55265	DSRAD_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.185)	Colorectal(1306;0.115)	2	1089	-	all_lung(78;2.22e-29)|Lung NSC(65;3.66e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.0997)		297			DRADA 2.		B1AQQ9|B1AQR0|D3DV76|O15223|O43859|O43860|Q9BYM3|Q9BYM4	Missense_Mutation	SNP	ENST00000368474.4	37	c.889G>T	CCDS1071.1	.	.	.	.	.	.	.	.	.	.	C	16.06	3.016048	0.54468	.	.	ENSG00000160710	ENST00000292205;ENST00000368474;ENST00000368471;ENST00000529168	T;T;T;T	0.56611	0.45;0.45;0.45;0.45	4.45	4.45	0.53987	Winged helix-turn-helix transcription repressor DNA-binding (1);Double-stranded RNA-specific adenosine deaminase (DRADA) (3);	0.423002	0.27549	N	0.018876	T	0.63058	0.2479	L	0.53249	1.67	0.44409	D	0.997321	P;P;D	0.76494	0.735;0.849;0.999	B;P;D	0.83275	0.331;0.555;0.996	T	0.66073	-0.6014	10	0.62326	D	0.03	-14.3872	17.6318	0.88111	0.0:1.0:0.0:0.0	.	297;297;297	P55265-3;P55265-2;P55265	.;.;DSRAD_HUMAN	S	340;297;2;292	ENSP00000292205:A340S;ENSP00000357459:A297S;ENSP00000357456:A2S;ENSP00000431794:A292S	ENSP00000292205:A340S	A	-	1	0	ADAR	152840853	1.000000	0.71417	1.000000	0.80357	0.460000	0.32559	3.061000	0.49963	2.450000	0.82876	0.491000	0.48974	GCC		PASS	0.468	ADAR-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000090691.2	NM_001111		59	151	59	151	---	---	---	---
PMVK	10654	broad.mit.edu	37	1	154904862	154904862	+	Missense_Mutation	SNP	C	C	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr1:154904862C>A	ENST00000368467.3	-	2	430	c.125G>T	c.(124-126)cGg>cTg	p.R42L		NM_006556.3	NP_006547.1	Q15126	PMVK_HUMAN	phosphomevalonate kinase	42					cholesterol biosynthetic process (GO:0006695)|isopentenyl diphosphate biosynthetic process, mevalonate pathway (GO:0019287)|response to cholesterol (GO:0070723)|small molecule metabolic process (GO:0044281)|sterol biosynthetic process (GO:0016126)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|peroxisome (GO:0005777)	ATP binding (GO:0005524)|phosphomevalonate kinase activity (GO:0004631)	p.R42L(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(3)	6	all_epithelial(22;4.9e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)|all_neural(408;0.142)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			ACCAGAGAGCCGGAGGACAGC	0.567																																						uc001ffq.2																			1	Substitution - Missense(1)		lung(1)		0						c.(124-126)CGG>CTG		phosphomevalonate kinase							103.0	93.0	96.0					1																	154904862		2203	4300	6503	SO:0001583	missense	10654				cholesterol biosynthetic process|protein phosphorylation	cytosol|peroxisome	ATP binding|phosphomevalonate kinase activity|protein binding	g.chr1:154904862C>A	L77213	CCDS1073.1	1q21.3	2012-09-20			ENSG00000163344	ENSG00000163344	2.7.4.2		9141	protein-coding gene	gene with protein product		607622				8663599, 10191291	Standard	NM_006556		Approved	PMK, PMKA, HUMPMKI	uc001ffq.3	Q15126	OTTHUMG00000037415	ENST00000368467.3:c.125G>T	1.37:g.154904862C>A	ENSP00000357452:p.Arg42Leu						p.R42L	NM_006556	NP_006547	Q15126	PMVK_HUMAN	BRCA - Breast invasive adenocarcinoma(34;0.00034)		2	448	-	all_epithelial(22;4.9e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)|all_neural(408;0.142)		42					Q5TZW9	Missense_Mutation	SNP	ENST00000368467.3	37	c.125G>T	CCDS1073.1	.	.	.	.	.	.	.	.	.	.	C	21.0	4.082147	0.76528	.	.	ENSG00000163344	ENST00000368467	T	0.53423	0.62	4.59	4.59	0.56863	.	0.000000	0.64402	D	0.000001	T	0.63931	0.2553	M	0.85462	2.755	0.58432	D	0.99999	D	0.76494	0.999	D	0.70487	0.969	T	0.68808	-0.5311	10	0.62326	D	0.03	-43.0017	13.0929	0.59176	0.0:1.0:0.0:0.0	.	42	Q15126	PMVK_HUMAN	L	42	ENSP00000357452:R42L	ENSP00000357452:R42L	R	-	2	0	PMVK	153171486	0.999000	0.42202	1.000000	0.80357	0.772000	0.43724	2.317000	0.43770	2.537000	0.85549	0.561000	0.74099	CGG		PASS	0.567	PMVK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091088.1	NM_006556		25	51	25	51	---	---	---	---
CCT3	7203	broad.mit.edu	37	1	156288776	156288776	+	Silent	SNP	G	G	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr1:156288776G>A	ENST00000295688.3	-	8	922	c.642C>T	c.(640-642)gtC>gtT	p.V214V	CCT3_ENST00000368261.3_Silent_p.V169V|CCT3_ENST00000472765.2_Silent_p.V169V|CCT3_ENST00000368259.2_Silent_p.V176V	NM_005998.4	NP_005989.3	P49368	TCPG_HUMAN	chaperonin containing TCP1, subunit 3 (gamma)	214					'de novo' posttranslational protein folding (GO:0051084)|binding of sperm to zona pellucida (GO:0007339)|cellular protein metabolic process (GO:0044267)|protein folding (GO:0006457)	cell body (GO:0044297)|chaperonin-containing T-complex (GO:0005832)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|plasma membrane (GO:0005886)|zona pellucida receptor complex (GO:0002199)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|unfolded protein binding (GO:0051082)	p.V214V(1)		endometrium(4)|large_intestine(1)|liver(1)|lung(11)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	22	Hepatocellular(266;0.158)					CTCCACGCAAGACACAGGAGT	0.438																																						uc001fol.1																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|skin(1)	2						c.(640-642)GTC>GTT		chaperonin containing TCP1, subunit 3 isoform a							86.0	82.0	83.0					1																	156288776		2203	4300	6503	SO:0001819	synonymous_variant	7203				'de novo' posttranslational protein folding	cytoskeleton|cytosol|plasma membrane	ATP binding|unfolded protein binding	g.chr1:156288776G>A	BC008019	CCDS1140.2, CCDS30888.1	1q23	2011-09-02			ENSG00000163468	ENSG00000163468		"""Heat Shock Proteins / Chaperonins"""	1616	protein-coding gene	gene with protein product		600114		TRIC5		8110840	Standard	NM_005998		Approved	Cctg	uc001fol.2	P49368	OTTHUMG00000024061	ENST00000295688.3:c.642C>T	1.37:g.156288776G>A						CCT3_uc001fom.1_Silent_p.V213V|CCT3_uc001fon.1_Silent_p.V176V|CCT3_uc010phj.1_Silent_p.V168V|CCT3_uc010phk.1_Silent_p.V168V|CCT3_uc010phl.1_Silent_p.V168V	p.V214V	NM_005998	NP_005989	P49368	TCPG_HUMAN			8	862	-	Hepatocellular(266;0.158)		214					A6NE14|Q5SZY1|Q9BR64	Silent	SNP	ENST00000295688.3	37	c.642C>T	CCDS1140.2																																																																																				PASS	0.438	CCT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060602.3	NM_005998		29	66	29	66	---	---	---	---
TTC24	164118	broad.mit.edu	37	1	156553228	156553228	+	Missense_Mutation	SNP	C	C	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr1:156553228C>A	ENST00000368237.3	+	4	1138	c.1138C>A	c.(1138-1140)Ctg>Atg	p.L380M	TTC24_ENST00000368236.3_Missense_Mutation_p.L380M|TTC24_ENST00000478081.1_Intron			A2A3L6	TTC24_HUMAN	tetratricopeptide repeat domain 24	380								p.L380M(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(10)|pancreas(1)|prostate(1)	20	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					TAAGGAAGCACTGGCCCAGTG	0.602											OREG0013875	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc009wsc.1																			1	Substitution - Missense(1)		lung(1)	pancreas(1)	1						c.(298-300)CTG>ATG		tetratricopeptide repeat domain 24							28.0	31.0	30.0					1																	156553228		2014	4172	6186	SO:0001583	missense	164118						binding	g.chr1:156553228C>A		CCDS53379.1	1q22	2013-01-10			ENSG00000187862	ENSG00000187862		"""Tetratricopeptide (TTC) repeat domain containing"""	32348	protein-coding gene	gene with protein product							Standard	NM_001105669		Approved		uc021pbf.1	A2A3L6	OTTHUMG00000033202	ENST00000368237.3:c.1138C>A	1.37:g.156553228C>A	ENSP00000357220:p.Leu380Met		OREG0013875	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1779		p.L100M	NM_001105669	NP_001099139	A2A3L6	TTC24_HUMAN			3	438	+	all_hematologic(923;0.088)|Hepatocellular(266;0.158)		380			TPR 8.		Q5T3H7	Missense_Mutation	SNP	ENST00000368237.3	37	c.298C>A	CCDS53379.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	17.79|17.79	3.475721|3.475721	0.63737|0.63737	.|.	.|.	ENSG00000187862|ENSG00000187862	ENST00000340086|ENST00000368236;ENST00000368237	.|D;D	.|0.96459	.|-4.02;-4.02	5.11|5.11	4.2|4.2	0.49525|0.49525	.|Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	.|0.000000	.|0.41097	.|D	.|0.000951	D|D	0.97911|0.97911	0.9313|0.9313	M|M	0.90814|0.90814	3.15|3.15	0.38368|0.38368	D|D	0.944786|0.944786	.|D	.|0.89917	.|1.0	.|D	.|0.97110	.|1.0	D|D	0.98939|0.98939	1.0790|1.0790	5|10	.|0.66056	.|D	.|0.02	-14.1652|-14.1652	12.233|12.233	0.54499|0.54499	0.0:0.9175:0.0:0.0825|0.0:0.9175:0.0:0.0825	.|.	.|380	.|A2A3L6	.|TTC24_HUMAN	Q|M	152|380	.|ENSP00000357219:L380M;ENSP00000357220:L380M	.|ENSP00000357219:L380M	H|L	+|+	3|1	2|2	TTC24|TTC24	154819852|154819852	0.886000|0.886000	0.30341|0.30341	0.931000|0.931000	0.37212|0.37212	0.978000|0.978000	0.69477|0.69477	1.614000|1.614000	0.36911|0.36911	1.400000|1.400000	0.46741|0.46741	0.455000|0.455000	0.32223|0.32223	CAC|CTG		PASS	0.602	TTC24-006	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000158547.1	XM_089384		7	15	7	15	---	---	---	---
NES	10763	broad.mit.edu	37	1	156642011	156642011	+	Missense_Mutation	SNP	C	C	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr1:156642011C>A	ENST00000368223.3	-	4	2101	c.1969G>T	c.(1969-1971)Gta>Tta	p.V657L		NM_006617.1	NP_006608.1	P48681	NEST_HUMAN	nestin	657	Tail.				brain development (GO:0007420)|cell projection morphogenesis (GO:0048858)|central nervous system development (GO:0007417)|embryonic camera-type eye development (GO:0031076)|G2/M transition of mitotic cell cycle (GO:0000086)|negative regulation of catalytic activity (GO:0043086)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of protein binding (GO:0032091)|positive regulation of intermediate filament depolymerization (GO:0030844)|positive regulation of neural precursor cell proliferation (GO:2000179)|stem cell proliferation (GO:0072089)	cytoplasm (GO:0005737)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)	intermediate filament binding (GO:0019215)|structural molecule activity (GO:0005198)	p.V657L(1)		central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(30)|ovary(6)|prostate(1)|skin(3)|stomach(1)|urinary_tract(4)	64	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					AGAGAACTTACTAATTCTTGA	0.408																																						uc001fpq.2																			1	Substitution - Missense(1)		lung(1)	ovary(6)	6						c.(1969-1971)GTA>TTA		nestin							51.0	50.0	50.0					1																	156642011		2202	4300	6502	SO:0001583	missense	10763				brain development|embryonic camera-type eye development|G2/M transition of mitotic cell cycle|negative regulation of apoptosis|positive regulation of intermediate filament depolymerization|positive regulation of neural precursor cell proliferation|stem cell proliferation	cytoplasm|intermediate filament	intermediate filament binding|structural molecule activity	g.chr1:156642011C>A	X65964	CCDS1151.1	1q23	2013-01-16			ENSG00000132688	ENSG00000132688		"""Intermediate filaments type IV"""	7756	protein-coding gene	gene with protein product		600915				1478958, 9104587	Standard	NM_006617		Approved	FLJ21841	uc001fpq.3	P48681	OTTHUMG00000034299	ENST00000368223.3:c.1969G>T	1.37:g.156642011C>A	ENSP00000357206:p.Val657Leu						p.V657L	NM_006617	NP_006608	P48681	NEST_HUMAN			4	2102	-	all_hematologic(923;0.088)|Hepatocellular(266;0.158)		657			Tail.		O00552|Q3LIF5|Q5SYZ6	Missense_Mutation	SNP	ENST00000368223.3	37	c.1969G>T	CCDS1151.1	.	.	.	.	.	.	.	.	.	.	C	14.84	2.656691	0.47467	.	.	ENSG00000132688	ENST00000368223	D	0.85773	-2.03	5.28	-0.0397	0.13875	.	0.000000	0.30036	N	0.010570	T	0.46502	0.1396	N	0.11313	0.125	0.09310	N	1	B	0.30236	0.274	B	0.27608	0.081	T	0.44390	-0.9331	10	0.37606	T	0.19	.	5.1786	0.15148	0.1277:0.4464:0.3435:0.0824	.	657	P48681	NEST_HUMAN	L	657	ENSP00000357206:V657L	ENSP00000357206:V657L	V	-	1	0	NES	154908635	0.005000	0.15991	0.046000	0.18839	0.708000	0.40852	1.083000	0.30815	0.567000	0.29293	0.467000	0.42956	GTA		PASS	0.408	NES-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000082844.2	NM_006617		33	74	33	74	---	---	---	---
INSRR	3645	broad.mit.edu	37	1	156823971	156823971	+	Silent	SNP	G	G	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr1:156823971G>T	ENST00000368195.3	-	2	606	c.210C>A	c.(208-210)ggC>ggA	p.G70G	NTRK1_ENST00000392302.2_Intron	NM_014215.2	NP_055030.1	P14616	INSRR_HUMAN	insulin receptor-related receptor	70					actin cytoskeleton reorganization (GO:0031532)|cellular response to alkaline pH (GO:0071469)|male sex determination (GO:0030238)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein autophosphorylation (GO:0046777)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)	p.G70G(1)		breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(7)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	42	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					GGAAGCTGAGGCCGCGGAAGT	0.632																																						uc010pht.1																			1	Substitution - coding silent(1)		lung(1)	lung(11)|ovary(5)|skin(2)|kidney(1)|central_nervous_system(1)	20						c.(208-210)GGC>GGA		insulin receptor-related receptor precursor							74.0	72.0	73.0					1																	156823971		2203	4300	6503	SO:0001819	synonymous_variant	3645				protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|insulin receptor substrate binding|metal ion binding|phosphatidylinositol 3-kinase binding|transmembrane receptor protein tyrosine kinase activity	g.chr1:156823971G>T	J05046	CCDS1160.1	1q21-q23	2013-02-11			ENSG00000027644	ENSG00000027644		"""Fibronectin type III domain containing"""	6093	protein-coding gene	gene with protein product		147671				2768234, 2249481	Standard	NM_014215		Approved	IRR	uc010pht.2	P14616	OTTHUMG00000041291	ENST00000368195.3:c.210C>A	1.37:g.156823971G>T						NTRK1_uc001fqf.1_Intron|NTRK1_uc009wsi.1_Intron|INSRR_uc009wsj.1_Silent_p.G70G	p.G70G	NM_014215	NP_055030	P14616	INSRR_HUMAN			2	464	-	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)		70					O60724|Q5VZS3	Silent	SNP	ENST00000368195.3	37	c.210C>A	CCDS1160.1																																																																																				PASS	0.632	INSRR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098929.1	NM_014215		27	52	27	52	---	---	---	---
ARHGEF11	9826	broad.mit.edu	37	1	156907135	156907135	+	Missense_Mutation	SNP	C	C	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr1:156907135C>T	ENST00000361409.2	-	38	4968	c.4226G>A	c.(4225-4227)cGc>cAc	p.R1409H	ARHGEF11_ENST00000368194.3_Missense_Mutation_p.R1449H|ARHGEF11_ENST00000315174.8_Missense_Mutation_p.R825H|MIR765_ENST00000390226.1_RNA|ARHGEF11_ENST00000487682.1_5'UTR	NM_014784.3	NP_055599.1	O15085	ARHGB_HUMAN	Rho guanine nucleotide exchange factor (GEF) 11	1409					actin cytoskeleton organization (GO:0030036)|apoptotic signaling pathway (GO:0097190)|axon guidance (GO:0007411)|cellular component movement (GO:0006928)|cytokinesis (GO:0000910)|establishment of cell polarity (GO:0030010)|G-protein coupled receptor signaling pathway (GO:0007186)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cell growth (GO:0001558)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)|striated muscle contraction (GO:0006941)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular (GO:0005622)|membrane (GO:0016020)	G-protein coupled receptor binding (GO:0001664)|GTPase activator activity (GO:0005096)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.R1449L(1)|p.R1449H(1)		NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(27)|ovary(4)|pancreas(2)|pleura(1)|prostate(4)|skin(7)|stomach(1)|urinary_tract(2)	81	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					GCGGCTGGGGCGTCTTGGATC	0.622																																						uc001fqo.2																			2	Substitution - Missense(2)		lung(2)	ovary(3)|skin(2)|pleura(1)|lung(1)|kidney(1)|pancreas(1)	9						c.(4225-4227)CGC>CAC		Rho guanine nucleotide exchange factor (GEF) 11							56.0	54.0	54.0					1																	156907135		2203	4300	6503	SO:0001583	missense	9826				actin cytoskeleton organization|apoptosis|axon guidance|cellular component movement|cytokinesis|establishment of cell polarity|G-protein coupled receptor protein signaling pathway|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of cell growth|regulation of Rho protein signal transduction|Rho protein signal transduction|striated muscle contraction	cytosol|Golgi apparatus|plasma membrane	G-protein-coupled receptor binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|signal transducer activity	g.chr1:156907135C>T	AB002378	CCDS1162.1, CCDS1163.1	1q21	2011-11-16			ENSG00000132694	ENSG00000132694		"""Rho guanine nucleotide exchange factors"""	14580	protein-coding gene	gene with protein product		605708				10526156, 9205841	Standard	NM_014784		Approved	KIAA0380, GTRAP48, PDZ-RHOGEF	uc001fqn.3	O15085	OTTHUMG00000041292	ENST00000361409.2:c.4226G>A	1.37:g.156907135C>T	ENSP00000354644:p.Arg1409His					ARHGEF11_uc010phu.1_Missense_Mutation_p.R825H|ARHGEF11_uc001fqn.2_Missense_Mutation_p.R1449H|MIR765_hsa-mir-765|MI0005116_5'Flank	p.R1409H	NM_014784	NP_055599	O15085	ARHGB_HUMAN			38	5266	-	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)		1409					D3DVD0|Q5VY40|Q6PFW2	Missense_Mutation	SNP	ENST00000361409.2	37	c.4226G>A	CCDS1162.1	.	.	.	.	.	.	.	.	.	.	C	0.371	-0.933968	0.02340	.	.	ENSG00000132694	ENST00000368194;ENST00000361409;ENST00000315174	T;T;T	0.64991	-0.13;-0.13;-0.03	5.16	-3.06	0.05379	.	0.939651	0.08796	N	0.892534	T	0.13457	0.0326	N	0.12182	0.205	0.09310	N	1	B;B;B	0.14438	0.01;0.002;0.001	B;B;B	0.06405	0.002;0.001;0.001	T	0.15607	-1.0431	10	0.15066	T	0.55	-0.0161	4.6579	0.12628	0.2372:0.311:0.0:0.4518	.	825;1409;1449	F8W8P9;O15085;O15085-2	.;ARHGB_HUMAN;.	H	1449;1409;825	ENSP00000357177:R1449H;ENSP00000354644:R1409H;ENSP00000313470:R825H	ENSP00000313470:R825H	R	-	2	0	ARHGEF11	155173759	0.000000	0.05858	0.000000	0.03702	0.011000	0.07611	-0.682000	0.05185	-1.019000	0.03358	-0.258000	0.10820	CGC		PASS	0.622	ARHGEF11-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000098931.1	NM_198236		20	52	20	52	---	---	---	---
ARHGEF11	9826	broad.mit.edu	37	1	156928544	156928544	+	Nonsense_Mutation	SNP	C	C	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr1:156928544C>A	ENST00000361409.2	-	16	2114	c.1372G>T	c.(1372-1374)Gga>Tga	p.G458*	ARHGEF11_ENST00000368194.3_Nonsense_Mutation_p.G498*	NM_014784.3	NP_055599.1	O15085	ARHGB_HUMAN	Rho guanine nucleotide exchange factor (GEF) 11	458	RGSL. {ECO:0000255|PROSITE- ProRule:PRU00171}.				actin cytoskeleton organization (GO:0030036)|apoptotic signaling pathway (GO:0097190)|axon guidance (GO:0007411)|cellular component movement (GO:0006928)|cytokinesis (GO:0000910)|establishment of cell polarity (GO:0030010)|G-protein coupled receptor signaling pathway (GO:0007186)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cell growth (GO:0001558)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)|striated muscle contraction (GO:0006941)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular (GO:0005622)|membrane (GO:0016020)	G-protein coupled receptor binding (GO:0001664)|GTPase activator activity (GO:0005096)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.G498*(1)		NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(27)|ovary(4)|pancreas(2)|pleura(1)|prostate(4)|skin(7)|stomach(1)|urinary_tract(2)	81	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					AAAATATCTCCAAGGGCAGCC	0.542																																						uc001fqo.2																			1	Substitution - Nonsense(1)		lung(1)	ovary(3)|skin(2)|pleura(1)|lung(1)|kidney(1)|pancreas(1)	9						c.(1372-1374)GGA>TGA		Rho guanine nucleotide exchange factor (GEF) 11							49.0	45.0	46.0					1																	156928544		2203	4300	6503	SO:0001587	stop_gained	9826				actin cytoskeleton organization|apoptosis|axon guidance|cellular component movement|cytokinesis|establishment of cell polarity|G-protein coupled receptor protein signaling pathway|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of cell growth|regulation of Rho protein signal transduction|Rho protein signal transduction|striated muscle contraction	cytosol|Golgi apparatus|plasma membrane	G-protein-coupled receptor binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|signal transducer activity	g.chr1:156928544C>A	AB002378	CCDS1162.1, CCDS1163.1	1q21	2011-11-16			ENSG00000132694	ENSG00000132694		"""Rho guanine nucleotide exchange factors"""	14580	protein-coding gene	gene with protein product		605708				10526156, 9205841	Standard	NM_014784		Approved	KIAA0380, GTRAP48, PDZ-RHOGEF	uc001fqn.3	O15085	OTTHUMG00000041292	ENST00000361409.2:c.1372G>T	1.37:g.156928544C>A	ENSP00000354644:p.Gly458*					ARHGEF11_uc001fqn.2_Nonsense_Mutation_p.G498*|ARHGEF11_uc001fqp.1_5'Flank	p.G458*	NM_014784	NP_055599	O15085	ARHGB_HUMAN			16	2412	-	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)		458			RGSL.|Potential.		D3DVD0|Q5VY40|Q6PFW2	Nonsense_Mutation	SNP	ENST00000361409.2	37	c.1372G>T	CCDS1162.1	.	.	.	.	.	.	.	.	.	.	C	45	11.742978	0.99597	.	.	ENSG00000132694	ENST00000368194;ENST00000361409	.	.	.	4.98	4.98	0.66077	.	0.000000	0.56097	D	0.000029	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.35671	T	0.21	-14.4899	18.0224	0.89259	0.0:1.0:0.0:0.0	.	.	.	.	X	498;458	.	ENSP00000354644:G458X	G	-	1	0	ARHGEF11	155195168	0.996000	0.38824	0.997000	0.53966	0.995000	0.86356	4.139000	0.58024	2.606000	0.88127	0.491000	0.48974	GGA		PASS	0.542	ARHGEF11-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000098931.1	NM_198236		24	39	24	39	---	---	---	---
CD1C	911	broad.mit.edu	37	1	158262530	158262530	+	Missense_Mutation	SNP	G	G	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr1:158262530G>T	ENST00000368170.3	+	4	1034	c.755G>T	c.(754-756)gGt>gTt	p.G252V		NM_001765.2	NP_001756.2	P29017	CD1C_HUMAN	CD1c molecule	252	Ig-like.				antigen processing and presentation (GO:0019882)|T cell activation involved in immune response (GO:0002286)	endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	endogenous lipid antigen binding (GO:0030883)|exogenous lipid antigen binding (GO:0030884)|glycolipid binding (GO:0051861)|lipopeptide binding (GO:0071723)	p.G252V(1)		NS(1)|endometrium(3)|large_intestine(4)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	39	all_hematologic(112;0.0378)					ACTAAACATGGTGATATTCTT	0.532																																						uc001fru.2																			1	Substitution - Missense(1)	p.G252C(1)	lung(1)	ovary(2)|skin(1)|pancreas(1)	4						c.(754-756)GGT>GTT		CD1C antigen precursor							148.0	145.0	146.0					1																	158262530		2203	4300	6503	SO:0001583	missense	911				antigen processing and presentation|T cell activation involved in immune response	endosome membrane|integral to plasma membrane	endogenous lipid antigen binding|exogenous lipid antigen binding|glycolipid binding|lipopeptide binding	g.chr1:158262530G>T	M28827	CCDS1175.1	1q23.1	2014-01-14	2006-03-28		ENSG00000158481	ENSG00000158481		"""CD molecules"", ""Immunoglobulin superfamily / C1-set domain containing"""	1636	protein-coding gene	gene with protein product		188340	"""CD1C antigen, c polypeptide"", ""CD1c antigen"""	CD1		2447586	Standard	NM_001765		Approved		uc001fru.3	P29017	OTTHUMG00000017514	ENST00000368170.3:c.755G>T	1.37:g.158262530G>T	ENSP00000357152:p.Gly252Val					CD1C_uc001frv.2_Missense_Mutation_p.G55V	p.G252V	NM_001765	NP_001756	P29017	CD1C_HUMAN			4	1047	+	all_hematologic(112;0.0378)		252			Extracellular (Potential).|Ig-like.		Q5TDJ7|Q6IAS4|Q9UMM0|Q9UN96	Missense_Mutation	SNP	ENST00000368170.3	37	c.755G>T	CCDS1175.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	-|-	12.15|12.15	1.853116|1.853116	0.32699|0.32699	.|.	.|.	ENSG00000158481|ENSG00000158481	ENST00000368169;ENST00000368170;ENST00000454192|ENST00000443761	T|.	0.02863|.	4.13|.	3.62|3.62	-0.814|-0.814	0.10846|0.10846	Immunoglobulin-like (1);MHC class I-like antigen recognition (1);Immunoglobulin C1-set (2);|.	0.601763|.	0.13907|.	N|.	0.354518|.	T|T	0.34745|0.34745	0.0908|0.0908	M|M	0.77820|0.77820	2.39|2.39	0.09310|0.09310	N|N	0.999997|0.999997	D;D|.	0.89917|.	1.0;1.0|.	D;D|.	0.85130|.	0.994;0.997|.	T|T	0.40869|0.40869	-0.9540|-0.9540	10|5	0.87932|.	D|.	0|.	.|.	6.4748|6.4748	0.22028|0.22028	0.5149:0.0:0.4851:0.0|0.5149:0.0:0.4851:0.0	.|.	252;252|.	E9PGC9;P29017|.	.;CD1C_HUMAN|.	V|C	252;252;55|186	ENSP00000357152:G252V|.	ENSP00000357151:G252V|.	G|W	+|+	2|3	0|0	CD1C|CD1C	156529154|156529154	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.001000|0.001000	0.01503|0.01503	0.018000|0.018000	0.13422|0.13422	-0.268000|-0.268000	0.09312|0.09312	-0.355000|-0.355000	0.07637|0.07637	GGT|TGG		PASS	0.532	CD1C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046351.2	NM_001765		43	99	43	99	---	---	---	---
OR6K6	128371	broad.mit.edu	37	1	158725183	158725183	+	Missense_Mutation	SNP	C	C	G	rs377139064		TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr1:158725183C>G	ENST00000368144.2	+	1	674	c.578C>G	c.(577-579)aCc>aGc	p.T193S		NM_001005184.1	NP_001005184.1	Q8NGW6	OR6K6_HUMAN	olfactory receptor, family 6, subfamily K, member 6	193						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.T193S(1)		endometrium(1)|large_intestine(5)|lung(17)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	all_hematologic(112;0.0378)					TGGATTTCCACCTTGCCTTTC	0.478																																						uc001fsw.1																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(577-579)ACC>AGC		olfactory receptor, family 6, subfamily K,							138.0	113.0	121.0					1																	158725183		2203	4300	6503	SO:0001583	missense	128371				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:158725183C>G	BK004198	CCDS30904.1	1q23.1	2012-08-09			ENSG00000180433	ENSG00000180433		"""GPCR / Class A : Olfactory receptors"""	15033	protein-coding gene	gene with protein product							Standard	NM_001005184		Approved		uc001fsw.1	Q8NGW6	OTTHUMG00000022772	ENST00000368144.2:c.578C>G	1.37:g.158725183C>G	ENSP00000357126:p.Thr193Ser						p.T193S	NM_001005184	NP_001005184	Q8NGW6	OR6K6_HUMAN			1	578	+	all_hematologic(112;0.0378)		193			Extracellular (Potential).		B9EIM8|Q5VUU9|Q6IFR4	Missense_Mutation	SNP	ENST00000368144.2	37	c.578C>G	CCDS30904.1	.	.	.	.	.	.	.	.	.	.	C	10.13	1.266395	0.23136	.	.	ENSG00000180433	ENST00000368144	T	0.00025	8.96	5.39	4.48	0.54585	GPCR, rhodopsin-like superfamily (1);	0.151022	0.30820	N	0.008811	T	0.00039	0.0001	N	0.21617	0.685	0.09310	N	1	P	0.49559	0.925	P	0.59012	0.85	T	0.05666	-1.0871	10	0.14252	T	0.57	-13.4538	7.5807	0.27963	0.0:0.7476:0.1657:0.0867	.	193	Q8NGW6	OR6K6_HUMAN	S	193	ENSP00000357126:T193S	ENSP00000357126:T193S	T	+	2	0	OR6K6	156991807	0.000000	0.05858	0.177000	0.23020	0.500000	0.33767	-1.118000	0.03280	1.512000	0.48834	0.655000	0.94253	ACC		PASS	0.478	OR6K6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059065.2	NM_001005184		30	78	30	78	---	---	---	---
MNDA	4332	broad.mit.edu	37	1	158817656	158817656	+	Missense_Mutation	SNP	A	A	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr1:158817656A>T	ENST00000368141.4	+	6	1387	c.1126A>T	c.(1126-1128)Aca>Tca	p.T376S		NM_002432.1	NP_002423.1	P41218	MNDA_HUMAN	myeloid cell nuclear differentiation antigen	376	HIN-200. {ECO:0000255|PROSITE- ProRule:PRU00106}.				B cell receptor signaling pathway (GO:0050853)|cellular defense response (GO:0006968)|cellular response to DNA damage stimulus (GO:0006974)|negative regulation of B cell proliferation (GO:0030889)|positive regulation of apoptotic process (GO:0043065)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	DNA binding (GO:0003677)	p.T376S(1)		NS(2)|breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|liver(1)|lung(26)|ovary(2)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	all_hematologic(112;0.0378)					TCAACTGAGAACAGTTGACCG	0.433																																						uc001fsz.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(2)	4						c.(1126-1128)ACA>TCA		myeloid cell nuclear differentiation antigen							135.0	129.0	131.0					1																	158817656		2203	4300	6503	SO:0001583	missense	4332				B cell receptor signaling pathway|cellular defense response|negative regulation of B cell proliferation|positive regulation of apoptosis|regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding	g.chr1:158817656A>T	BC032319	CCDS1177.1	1q22	2008-02-05			ENSG00000163563	ENSG00000163563			7183	protein-coding gene	gene with protein product		159553				1644857, 7512843	Standard	NM_002432		Approved	PYHIN3	uc001fsz.1	P41218	OTTHUMG00000022776	ENST00000368141.4:c.1126A>T	1.37:g.158817656A>T	ENSP00000357123:p.Thr376Ser						p.T376S	NM_002432	NP_002423	P41218	MNDA_HUMAN			6	1326	+	all_hematologic(112;0.0378)		376			HIN-200.			Missense_Mutation	SNP	ENST00000368141.4	37	c.1126A>T	CCDS1177.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	5.513|5.513	0.279526|0.279526	0.10458|0.10458	.|.	.|.	ENSG00000163563|ENSG00000163563	ENST00000438394|ENST00000368141	.|T	.|0.21031	.|2.03	3.76|3.76	1.45|1.45	0.22620|0.22620	.|HIN-200/IF120x (1);Nucleic acid-binding, OB-fold (1);	.|0.787332	.|0.10356	.|N	.|0.684540	T|T	0.07999|0.07999	0.0200|0.0200	L|L	0.37750|0.37750	1.13|1.13	0.09310|0.09310	N|N	1|1	.|D	.|0.56521	.|0.976	.|P	.|0.50049	.|0.629	T|T	0.16070|0.16070	-1.0415|-1.0415	5|10	.|0.21014	.|T	.|0.42	-2.216|-2.216	4.91|4.91	0.13816|0.13816	0.7405:0.0:0.2595:0.0|0.7405:0.0:0.2595:0.0	.|.	.|376	.|P41218	.|MNDA_HUMAN	I|S	81|376	.|ENSP00000357123:T376S	.|ENSP00000357123:T376S	N|T	+|+	2|1	0|0	MNDA|MNDA	157084280|157084280	0.001000|0.001000	0.12720|0.12720	0.001000|0.001000	0.08648|0.08648	0.037000|0.037000	0.13140|0.13140	0.774000|0.774000	0.26675|0.26675	0.596000|0.596000	0.29794|0.29794	0.460000|0.460000	0.39030|0.39030	AAC|ACA		PASS	0.433	MNDA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059069.1	NM_002432		59	114	59	114	---	---	---	---
ACKR1	2532	broad.mit.edu	37	1	159176115	159176115	+	Missense_Mutation	SNP	C	C	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr1:159176115C>A	ENST00000368122.2	+	2	1565	c.886C>A	c.(886-888)Cac>Aac	p.H296N	DARC_ENST00000537147.1_Missense_Mutation_p.H296N|CTA-134P22.2_ENST00000609696.1_RNA|DARC_ENST00000368121.2_Missense_Mutation_p.H298N	NM_002036.3	NP_002027.2	Q16570	ACKR1_HUMAN		296					chemokine-mediated signaling pathway (GO:0070098)|defense response (GO:0006952)|inflammatory response (GO:0006954)|regulation of chemokine production (GO:0032642)	endosome (GO:0005768)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	C-C chemokine binding (GO:0019957)|G-protein coupled receptor activity (GO:0004930)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)	p.H298N(1)		large_intestine(2)|lung(1)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	8	all_hematologic(112;0.0429)					GGCAATTTTGCACTGTGTGGC	0.597																																						uc001fto.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|lung(1)	2						c.(886-888)CAC>AAC		Duffy blood group antigen isoform b							173.0	182.0	179.0					1																	159176115		2203	4300	6503	SO:0001583	missense	2532				defense response	integral to membrane|plasma membrane	C-C chemokine binding|chemokine receptor activity	g.chr1:159176115C>A																												ENST00000368122.2:c.886C>A	1.37:g.159176115C>A	ENSP00000357104:p.His296Asn					DARC_uc001ftp.3_Missense_Mutation_p.H298N	p.H296N	NM_002036	NP_002027	Q16570	DUFFY_HUMAN			2	1126	+	all_hematologic(112;0.0429)		296			Helical; Name=7; (Potential).		A8YPG5|O75898|Q16300|Q8WWE3|Q9UJP0|Q9UKZ5|Q9UKZ6|Q9UQE1	Missense_Mutation	SNP	ENST00000368122.2	37	c.886C>A	CCDS1183.1	.	.	.	.	.	.	.	.	.	.	C	18.07	3.540982	0.65085	.	.	ENSG00000213088	ENST00000368122;ENST00000537147;ENST00000359381;ENST00000368121	T;T;T	0.27402	1.67;1.67;1.67	5.4	5.4	0.78164	.	0.000000	0.33772	U	0.004567	T	0.39989	0.1099	L	0.47190	1.495	0.34621	D	0.718574	D;D	0.69078	0.997;0.997	D;D	0.79784	0.993;0.993	T	0.34875	-0.9811	10	0.87932	D	0	-13.6697	15.0408	0.71788	0.0:1.0:0.0:0.0	.	298;296	Q5Y7A1;Q16570	.;DUFFY_HUMAN	N	296;296;296;298	ENSP00000357104:H296N;ENSP00000441985:H296N;ENSP00000357103:H298N	ENSP00000352341:H296N	H	+	1	0	DARC	157442739	0.999000	0.42202	0.979000	0.43373	0.506000	0.33950	3.664000	0.54525	2.688000	0.91661	0.655000	0.94253	CAC		PASS	0.597	DARC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090338.2			171	387	171	387	---	---	---	---
CD84	8832	broad.mit.edu	37	1	160519720	160519720	+	Missense_Mutation	SNP	T	T	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr1:160519720T>A	ENST00000311224.4	-	7	1025	c.959A>T	c.(958-960)cAg>cTg	p.Q320L	CD84_ENST00000368054.3_Missense_Mutation_p.Q303L|CD84_ENST00000368048.3_Missense_Mutation_p.Q314L|CD84_ENST00000368051.3_Silent_p.A270A|CD84_ENST00000534968.1_Missense_Mutation_p.Q189L|RP11-528G1.2_ENST00000446952.1_RNA	NM_001184879.1	NP_001171808.1	Q9UIB8	SLAF5_HUMAN	CD84 molecule	320					blood coagulation (GO:0007596)|defense response (GO:0006952)|homophilic cell adhesion (GO:0007156)|leukocyte migration (GO:0050900)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)	p.Q303L(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)|skin(1)	24	all_cancers(52;3.62e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.0175)			ATCAGCAAACTGCACTTCGGA	0.512																																						uc001fwh.3																			1	Substitution - Missense(1)		lung(1)	ovary(2)|central_nervous_system(1)|skin(1)	4						c.(958-960)CAG>CTG		CD84 molecule							127.0	115.0	119.0					1																	160519720		2203	4300	6503	SO:0001583	missense	8832				blood coagulation|defense response|homophilic cell adhesion|leukocyte migration	integral to plasma membrane	receptor activity	g.chr1:160519720T>A	AF054816	CCDS1206.1, CCDS53395.1, CCDS53396.1, CCDS53397.1	1q24	2013-01-11	2006-03-31		ENSG00000066294	ENSG00000066294		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	1704	protein-coding gene	gene with protein product		604513	"""CD84 antigen (leukocyte antigen)"", ""CD84 molecule """			9310491	Standard	NM_003874		Approved	SLAMF5, hCD84, mCD84	uc001fwh.4	Q9UIB8	OTTHUMG00000022788	ENST00000311224.4:c.959A>T	1.37:g.160519720T>A	ENSP00000312367:p.Gln320Leu					CD84_uc001fwf.3_Missense_Mutation_p.Q303L|CD84_uc001fwg.3_Missense_Mutation_p.Q314L|CD84_uc009wtn.2_Silent_p.A270A|CD84_uc001fwi.3_Missense_Mutation_p.Q189L	p.Q320L	NM_003874	NP_003865	Q9UIB8	SLAF5_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.0175)		7	983	-	all_cancers(52;3.62e-17)|all_hematologic(112;0.093)		320			Cytoplasmic (Potential).		B2R8T1|B7Z3R8|O15430|O95266|O95660|Q5H9R1|Q6FHA8|Q8WLP1|Q8WWI8|Q9UF04|Q9UIB6|Q9UIB7|Q9UIT7	Missense_Mutation	SNP	ENST00000311224.4	37	c.959A>T	CCDS53396.1	.	.	.	.	.	.	.	.	.	.	T	15.57	2.872122	0.51695	.	.	ENSG00000066294	ENST00000534968;ENST00000368054;ENST00000368048;ENST00000311224	T;T;T;T	0.64803	2.04;-0.12;-0.06;-0.04	4.51	3.38	0.38709	.	0.349704	0.25549	N	0.029904	T	0.64778	0.2629	.	.	.	0.36802	D	0.885398	D;D;D;D	0.76494	0.992;0.999;0.999;0.999	P;P;D;D	0.67382	0.866;0.895;0.951;0.951	T	0.68021	-0.5519	9	0.56958	D	0.05	-2.9994	6.8508	0.24014	0.0:0.1056:0.0:0.8944	.	189;320;314;303	Q9UIB8-7;Q9UIB8;Q9UIB8-2;Q9UIB8-3	.;SLAF5_HUMAN;.;.	L	189;303;314;320	ENSP00000442845:Q189L;ENSP00000357033:Q303L;ENSP00000357027:Q314L;ENSP00000312367:Q320L	ENSP00000312367:Q320L	Q	-	2	0	CD84	158786344	0.987000	0.35691	0.684000	0.30055	0.020000	0.10135	1.959000	0.40412	0.864000	0.35578	0.460000	0.39030	CAG		PASS	0.512	CD84-003	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000059092.1	NM_003874		27	62	27	62	---	---	---	---
USP21	27005	broad.mit.edu	37	1	161130856	161130856	+	Missense_Mutation	SNP	G	G	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr1:161130856G>T	ENST00000289865.8	+	2	647	c.426G>T	c.(424-426)ttG>ttT	p.L142F	USP21_ENST00000368002.3_Missense_Mutation_p.L142F|RP11-297K8.2_ENST00000420498.1_RNA|USP21_ENST00000368001.1_Missense_Mutation_p.L142F	NM_012475.4	NP_036607.3	Q9UK80	UBP21_HUMAN	ubiquitin specific peptidase 21	142					histone deubiquitination (GO:0016578)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	cysteine-type peptidase activity (GO:0008234)|metal ion binding (GO:0046872)|NEDD8-specific protease activity (GO:0019784)|transcription coactivator activity (GO:0003713)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)	p.L142F(1)		breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(10)|ovary(3)|prostate(3)	29	all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00275)			TGAGCCGCTTGGCCCTCCGGC	0.642																																						uc010pke.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)|lung(1)|prostate(1)|breast(1)	5						c.(424-426)TTG>TTT		ubiquitin-specific protease 21							68.0	66.0	66.0					1																	161130856		2203	4300	6503	SO:0001583	missense	27005				histone deubiquitination|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent|ubiquitin-dependent protein catabolic process	nucleus	metal ion binding|NEDD8-specific protease activity|protein binding|transcription coactivator activity|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chr1:161130856G>T	AF177758	CCDS30920.1	1q22	2008-04-11	2005-08-08		ENSG00000143258	ENSG00000143258		"""Ubiquitin-specific peptidases"""	12620	protein-coding gene	gene with protein product		604729	"""ubiquitin specific protease 21"""	USP23		12838346, 10799498	Standard	XM_006711273		Approved	USP16	uc010pkd.2	Q9UK80	OTTHUMG00000033154	ENST00000289865.8:c.426G>T	1.37:g.161130856G>T	ENSP00000289865:p.Leu142Phe					USP21_uc010pkc.1_Missense_Mutation_p.L142F|USP21_uc010pkd.1_Missense_Mutation_p.L142F|USP21_uc010pkf.1_Missense_Mutation_p.L142F	p.L142F	NM_001014443	NP_001014443	Q9UK80	UBP21_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.00275)		3	803	+	all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		142					Q59H60|Q5BKT5|Q5VTW9|Q5VTX0|Q9BTV1|Q9HBS2|Q9NYN4	Missense_Mutation	SNP	ENST00000289865.8	37	c.426G>T	CCDS30920.1	.	.	.	.	.	.	.	.	.	.	G	16.91	3.252742	0.59212	.	.	ENSG00000143258	ENST00000368002;ENST00000289865;ENST00000368001	T;T;T	0.44881	0.91;0.91;0.91	5.01	3.1	0.35709	.	0.446866	0.16190	N	0.225430	T	0.24198	0.0586	N	0.08118	0	0.32121	N	0.587967	D	0.64830	0.994	D	0.75484	0.986	T	0.07233	-1.0783	10	0.27785	T	0.31	.	9.0556	0.36403	0.1776:0.0:0.8224:0.0	.	142	Q9UK80	UBP21_HUMAN	F	142	ENSP00000356981:L142F;ENSP00000289865:L142F;ENSP00000356980:L142F	ENSP00000289865:L142F	L	+	3	2	USP21	159397480	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.698000	0.54771	1.334000	0.45468	0.462000	0.41574	TTG		PASS	0.642	USP21-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080801.1			51	64	51	64	---	---	---	---
B4GALT3	8703	broad.mit.edu	37	1	161143466	161143466	+	Missense_Mutation	SNP	C	C	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr1:161143466C>A	ENST00000319769.5	-	6	954	c.732G>T	c.(730-732)caG>caT	p.Q244H	B4GALT3_ENST00000470882.1_5'UTR|PPOX_ENST00000432542.2_Intron|B4GALT3_ENST00000367998.1_Missense_Mutation_p.Q244H|PPOX_ENST00000535223.1_Intron|PPOX_ENST00000495483.1_Intron	NM_001199873.1|NM_003779.3	NP_001186802.1|NP_003770.1	O60512	B4GT3_HUMAN	UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 3	244					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)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	beta-N-acetylglucosaminylglycopeptide beta-1,4-galactosyltransferase activity (GO:0003831)|galactosyltransferase activity (GO:0008378)|metal ion binding (GO:0046872)|N-acetyllactosamine synthase activity (GO:0003945)	p.Q244H(1)		cervix(1)|endometrium(5)|large_intestine(6)|lung(6)	18	all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00275)		N-Acetyl-D-glucosamine(DB00141)	TCTTCAGGTACTGGTCAGGAG	0.552																																						uc001fyq.1																			1	Substitution - Missense(1)		lung(1)		0						c.(730-732)CAG>CAT		UDP-Gal:betaGlcNAc beta 1,4-	N-Acetyl-D-glucosamine(DB00141)						173.0	145.0	154.0					1																	161143466		2203	4300	6503	SO:0001583	missense	8703				post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi cisterna membrane|integral to membrane	beta-N-acetylglucosaminylglycopeptide beta-1,4-galactosyltransferase activity|metal ion binding|N-acetyllactosamine synthase activity	g.chr1:161143466C>A	BC006099	CCDS1222.1	1q21-q23	2013-02-19			ENSG00000158850	ENSG00000158850		"""Beta 4-glycosyltransferases"""	926	protein-coding gene	gene with protein product		604014				9405390, 9597550	Standard	NM_001199873		Approved	beta4Gal-T3	uc001fys.2	O60512	OTTHUMG00000034348	ENST00000319769.5:c.732G>T	1.37:g.161143466C>A	ENSP00000320965:p.Gln244His					PPOX_uc010pkh.1_Intron|PPOX_uc001fyi.2_Intron|B4GALT3_uc001fyo.1_Missense_Mutation_p.Q24H|B4GALT3_uc001fyp.1_RNA|B4GALT3_uc001fyr.1_Missense_Mutation_p.Q244H|B4GALT3_uc001fys.1_Missense_Mutation_p.Q244H|B4GALT3_uc009wud.1_3'UTR	p.Q244H	NM_003779	NP_003770	O60512	B4GT3_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.00275)		6	994	-	all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		244			Lumenal (Potential).		D3DVG3|O60910|Q9BPZ4|Q9H8T2	Missense_Mutation	SNP	ENST00000319769.5	37	c.732G>T	CCDS1222.1	.	.	.	.	.	.	.	.	.	.	C	11.63	1.695596	0.30052	.	.	ENSG00000158850	ENST00000319769;ENST00000407555;ENST00000367998;ENST00000367997	D;D	0.82711	-1.64;-1.64	5.28	2.33	0.28932	.	0.114128	0.64402	D	0.000004	T	0.55721	0.1938	N	0.26092	0.79	0.80722	D	1	B	0.27166	0.17	B	0.34931	0.192	T	0.51926	-0.8643	10	0.39692	T	0.17	-9.126	3.0547	0.06180	0.1469:0.557:0.142:0.1541	.	244	O60512	B4GT3_HUMAN	H	244;221;244;244	ENSP00000320965:Q244H;ENSP00000356977:Q244H	ENSP00000320965:Q244H	Q	-	3	2	B4GALT3	159410090	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.631000	0.46502	0.347000	0.23924	0.655000	0.94253	CAG		PASS	0.552	B4GALT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083054.1	NM_003779		57	150	57	150	---	---	---	---
ADAMTS4	9507	broad.mit.edu	37	1	161161322	161161322	+	Missense_Mutation	SNP	G	G	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr1:161161322G>A	ENST00000367996.5	-	9	2548	c.2120C>T	c.(2119-2121)gCg>gTg	p.A707V	ADAMTS4_ENST00000478394.1_5'Flank	NM_005099.4	NP_005090.3	O75173	ATS4_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 4	707	Spacer.				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.A707V(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)	GGTGGCCCCCGCGGGGATAGT	0.577																																						uc001fyt.3																			2	Substitution - Missense(2)		lung(2)	ovary(4)|central_nervous_system(1)	5						c.(2119-2121)GCG>GTG		ADAM metallopeptidase with thrombospondin type 1							54.0	58.0	57.0					1																	161161322		2203	4299	6502	SO:0001583	missense	9507				proteolysis|skeletal system development	extracellular space|proteinaceous extracellular matrix	metalloendopeptidase activity|protease binding|zinc ion binding	g.chr1:161161322G>A	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.2120C>T	1.37:g.161161322G>A	ENSP00000356975:p.Ala707Val						p.A707V	NM_005099	NP_005090	O75173	ATS4_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.00275)		9	2548	-	all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		707			Spacer.		Q5VTW2|Q6P4Q8|Q6UWA8|Q9UN83	Missense_Mutation	SNP	ENST00000367996.5	37	c.2120C>T	CCDS1223.1	.	.	.	.	.	.	.	.	.	.	G	12.87	2.066641	0.36470	.	.	ENSG00000158859	ENST00000367996	T	0.55413	0.52	4.39	3.47	0.39725	ADAM-TS Spacer 1 (1);	0.182059	0.36628	N	0.002496	T	0.28333	0.0700	L	0.55990	1.75	0.80722	D	1	B	0.28850	0.225	B	0.25405	0.06	T	0.19679	-1.0298	10	0.45353	T	0.12	.	8.6964	0.34298	0.1866:0.0:0.8134:0.0	.	707	O75173	ATS4_HUMAN	V	707	ENSP00000356975:A707V	ENSP00000356975:A707V	A	-	2	0	ADAMTS4	159427946	0.990000	0.36364	0.030000	0.17652	0.710000	0.40934	3.606000	0.54095	1.198000	0.43158	0.561000	0.74099	GCG		PASS	0.577	ADAMTS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083066.2	NM_005099		31	159	31	159	---	---	---	---
FCGR3A	2214	broad.mit.edu	37	1	161561180	161561181	+	Intron	DNP	CT	CT	TA			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr1:161561180_161561181CT>TA	ENST00000540048.1	-	2	94				FCGR2B_ENST00000428605.2_Intron|FCGR2B_ENST00000367960.5_Intron|FCGR2B_ENST00000403078.3_Intron|FCGR2C_ENST00000473530.2_RNA|FCGR2C_ENST00000466542.2_RNA|FCGR2B_ENST00000367962.4_Intron|RP11-25K21.6_ENST00000537821.2_RNA			P08637	FCG3A_HUMAN	Fc fragment of IgG, low affinity IIIa, receptor (CD16a)						Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|immune response (GO:0006955)|innate immune response (GO:0045087)|regulation of immune response (GO:0050776)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(14)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	24	all_cancers(52;4.89e-16)|all_hematologic(112;0.0207)		BRCA - Breast invasive adenocarcinoma(70;0.00376)		Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Intravenous Immunoglobulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	GTGACCATCACTGTCCAAGGTA	0.53																																						uc001gav.2																			0					0						c.(637-639)ACT>ATT|c.(637-639)ACT>ACA		Fc fragment of IgG, low affinity IIc, receptor																																				SO:0001627	intron_variant	9103							g.chr1:161561180C>T|g.chr1:161561181T>A	BC036723	CCDS1232.1, CCDS44266.1	1q23	2014-09-17	2005-02-02		ENSG00000203747	ENSG00000203747		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	3619	protein-coding gene	gene with protein product		146740	"""Fc fragment of IgG, low affinity IIIa, receptor for (CD16)"""	FCGR3, FCG3		2139735	Standard	NM_001127592		Approved	CD16, CD16a	uc001gar.3	P08637	OTTHUMG00000034466	ENST00000540048.1:c.62_62delinsTA	1.37:g.161561180_161561181delinsTA						FCGR2C_uc009wuj.2_RNA|FCGR2C_uc009wuk.2_RNA	p.T213I|p.T213T	NM_201563	NP_963857			BRCA - Breast invasive adenocarcinoma(70;0.00376)		5	737|738	+	all_cancers(52;4.89e-16)|all_hematologic(112;0.0207)							A2N6W9|Q53FJ0|Q53FL6|Q5EBR4|Q65ZM6|Q6PIJ0	Missense_Mutation|Silent	SNP	ENST00000540048.1	37	c.638C>T|c.639T>A																																																																																					PASS	0.530	FCGR3A-203	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_000569		21	62	21	62	---	---	---	---
FCRLA	84824	broad.mit.edu	37	1	161680596	161680596	+	Missense_Mutation	SNP	G	G	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr1:161680596G>T	ENST00000236938.6	+	2	419	c.177G>T	c.(175-177)gaG>gaT	p.E59D	FCRLA_ENST00000294796.4_Intron|FCRLA_ENST00000540521.1_Intron|FCRLA_ENST00000309691.6_Missense_Mutation_p.E42D|FCRLA_ENST00000367953.3_Missense_Mutation_p.E48D|FCRLA_ENST00000350710.3_Intron|FCRLA_ENST00000349527.4_Missense_Mutation_p.E42D|FCRLA_ENST00000470841.1_3'UTR|FCRLA_ENST00000367950.1_Missense_Mutation_p.E19D|FCRLA_ENST00000546024.1_Missense_Mutation_p.E59D|FCRLA_ENST00000367959.2_Missense_Mutation_p.E65D|FCRLA_ENST00000367949.2_Missense_Mutation_p.E59D|FCRLA_ENST00000367957.2_Intron|FCRLA_ENST00000540926.1_Missense_Mutation_p.E48D	NM_032738.3	NP_116127.3	Q7L513	FCRLA_HUMAN	Fc receptor-like A	42					cell differentiation (GO:0030154)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)		p.E42D(1)|p.E65D(1)		breast(1)|kidney(12)|large_intestine(4)|lung(13)|prostate(1)|skin(2)|stomach(1)	34	all_cancers(52;2.55e-15)|all_hematologic(112;0.0359)		BRCA - Breast invasive adenocarcinoma(70;0.00301)			TCTGCACTGAGGAGAGCAGCT	0.537																																						uc001gbe.2																			2	Substitution - Missense(2)		lung(2)		0						c.(193-195)GAG>GAT		Fc receptor-like and mucin-like 1							93.0	71.0	79.0					1																	161680596		2203	4300	6503	SO:0001583	missense	84824				cell differentiation	cytoplasm|extracellular region		g.chr1:161680596G>T	AF531423	CCDS30926.1, CCDS53415.1, CCDS53416.1, CCDS53417.1, CCDS53418.1, CCDS53419.1, CCDS53420.1	1q23.3	2014-01-28	2006-09-26	2006-09-26	ENSG00000132185	ENSG00000132185		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	18504	protein-coding gene	gene with protein product		606891	"""Fc receptor-like and mucin-like 1"""	FCRLM1		11754007	Standard	NM_001184866		Approved	MGC4595, FCRLc2, FCRLb, FCRLc1, FCRLd, FCRLe, FCRL, FCRLa, FREB, FCRLX	uc001gbe.3	Q7L513	OTTHUMG00000034537	ENST00000236938.6:c.177G>T	1.37:g.161680596G>T	ENSP00000236938:p.Glu59Asp					FCRLA_uc001gbd.2_Missense_Mutation_p.E59D|FCRLA_uc001gbf.2_Missense_Mutation_p.E59D|FCRLA_uc001gbg.2_Intron|FCRLA_uc009wuo.2_Intron|FCRLA_uc009wup.2_Missense_Mutation_p.E59D|FCRLA_uc009wuq.2_Intron	p.E65D	NM_032738	NP_116127	Q7L513	FCRLA_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.00301)		3	437	+	all_cancers(52;2.55e-15)|all_hematologic(112;0.0359)		42					A0N0M1|A6NC03|A6NL20|F5H720|F8W743|G3V1J2|Q5VXA1|Q5VXA2|Q5VXA3|Q5VXA4|Q5VXB0|Q5VXB1|Q8NEW4|Q8WXH3|Q96PC6|Q96PJ0|Q96PJ1|Q96PJ2|Q96PJ4|Q9BR57	Missense_Mutation	SNP	ENST00000236938.6	37	c.195G>T	CCDS30926.1	.	.	.	.	.	.	.	.	.	.	G	6.534	0.466682	0.12402	.	.	ENSG00000132185	ENST00000236938;ENST00000367959;ENST00000546024;ENST00000367949;ENST00000540926;ENST00000349527;ENST00000309691;ENST00000367953;ENST00000367950	T;T;T;T;T;T;T;T;T	0.49432	5.71;5.71;4.62;0.78;5.73;3.85;4.65;5.73;0.8	4.49	2.61	0.31194	.	1.898810	0.02554	N	0.095997	T	0.15565	0.0375	L	0.34521	1.04	0.09310	N	1	B;B;B;P	0.37276	0.358;0.187;0.255;0.589	B;B;B;B	0.33392	0.116;0.04;0.053;0.163	T	0.10042	-1.0647	10	0.19590	T	0.45	.	7.1354	0.25525	0.2046:0.0:0.7954:0.0	.	59;59;65;59	A6NL20;G3V1J2;A6NC03;Q7L513-9	.;.;.;.	D	59;65;59;59;48;42;42;48;19	ENSP00000236938:E59D;ENSP00000356936:E65D;ENSP00000439838:E59D;ENSP00000356926:E59D;ENSP00000446380:E48D;ENSP00000294798:E42D;ENSP00000309596:E42D;ENSP00000356930:E48D;ENSP00000356927:E19D	ENSP00000236938:E59D	E	+	3	2	FCRLA	159947220	0.007000	0.16637	0.002000	0.10522	0.023000	0.10783	0.643000	0.24750	0.628000	0.30357	-0.137000	0.14449	GAG		PASS	0.537	FCRLA-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000083574.1	NM_032738		25	67	25	67	---	---	---	---
ADCY10	55811	broad.mit.edu	37	1	167793991	167793991	+	Missense_Mutation	SNP	G	G	T	rs577177202		TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr1:167793991G>T	ENST00000367851.4	-	27	4037	c.3853C>A	c.(3853-3855)Ctc>Atc	p.L1285I	ADCY10_ENST00000545172.1_Missense_Mutation_p.L1132I|ADCY10_ENST00000367848.1_Missense_Mutation_p.L1193I	NM_018417.4	NP_060887.2	Q96PN6	ADCYA_HUMAN	adenylate cyclase 10 (soluble)	1285					cAMP biosynthetic process (GO:0006171)|intracellular signal transduction (GO:0035556)|positive regulation of apoptotic process (GO:0043065)|spermatogenesis (GO:0007283)	apical part of cell (GO:0045177)|axon (GO:0030424)|basal part of cell (GO:0045178)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dendrite (GO:0030425)|growth cone (GO:0030426)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)	p.L1285I(1)		autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(26)|ovary(2)|prostate(4)|skin(6)|stomach(1)|urinary_tract(1)	63						TTCAGGGGGAGGTTGAAGATG	0.488																																						uc001ger.2																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(2)|ovary(1)	3						c.(3853-3855)CTC>ATC		adenylate cyclase 10							204.0	194.0	198.0					1																	167793991		2203	4300	6503	SO:0001583	missense	55811				intracellular signal transduction|spermatogenesis	cytoskeleton|cytosol|perinuclear region of cytoplasm|plasma membrane|soluble fraction	adenylate cyclase activity|ATP binding|magnesium ion binding	g.chr1:167793991G>T	AF271058	CCDS1265.1, CCDS53426.1, CCDS72977.1	1q24	2013-02-04			ENSG00000143199	ENSG00000143199	4.6.1.1	"""Adenylate cyclases"""	21285	protein-coding gene	gene with protein product	"""soluble adenylyl cyclase"", ""Hypercalciuria, absorptive, 2"""	605205					Standard	XM_006711449		Approved	SAC, Sacy, SACI, HCA2, RP1-313L4.2	uc001ger.3	Q96PN6	OTTHUMG00000034573	ENST00000367851.4:c.3853C>A	1.37:g.167793991G>T	ENSP00000356825:p.Leu1285Ile					ADCY10_uc009wvj.2_RNA|ADCY10_uc009wvk.2_Missense_Mutation_p.L1193I|ADCY10_uc010plj.1_Missense_Mutation_p.L1132I	p.L1285I	NM_018417	NP_060887	Q96PN6	ADCYA_HUMAN			27	4151	-			1285					B4DZF0|F5GWS5|O95558|Q5R329|Q5R330|Q8WXV4|Q9NNX0	Missense_Mutation	SNP	ENST00000367851.4	37	c.3853C>A	CCDS1265.1	.	.	.	.	.	.	.	.	.	.	G	17.00	3.277147	0.59758	.	.	ENSG00000143199	ENST00000545172;ENST00000271426;ENST00000367851;ENST00000367848	T;T;T	0.32753	1.44;1.44;1.44	5.75	4.76	0.60689	.	0.348516	0.22265	N	0.062348	T	0.35248	0.0925	M	0.65975	2.015	0.28603	N	0.909054	D;D	0.59767	0.986;0.976	P;P	0.56278	0.795;0.629	T	0.10894	-1.0610	9	0.40728	T	0.16	-21.0141	12.7574	0.57343	0.0:0.0:0.8256:0.1744	.	1193;1285	Q96PN6-2;Q96PN6	.;ADCYA_HUMAN	I	1132;186;1285;1193	ENSP00000441992:L1132I;ENSP00000356825:L1285I;ENSP00000356822:L1193I	ENSP00000271426:L186I	L	-	1	0	ADCY10	166060615	0.602000	0.26916	0.986000	0.45419	0.935000	0.57460	1.642000	0.37207	2.716000	0.92895	0.655000	0.94253	CTC		PASS	0.488	ADCY10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083663.1	NM_018417		88	217	88	217	---	---	---	---
DCAF6	55827	broad.mit.edu	37	1	168012380	168012380	+	Splice_Site	SNP	T	T	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr1:168012380T>A	ENST00000312263.6	+	12	1816		c.e12+2		DCAF6_ENST00000367843.3_Splice_Site|DCAF6_ENST00000367840.3_Splice_Site|DCAF6_ENST00000432587.2_Splice_Site	NM_001017977.2	NP_001017977.1	Q58WW2	DCAF6_HUMAN	DDB1 and CUL4 associated factor 6						positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein ubiquitination (GO:0016567)	Cul4-RING E3 ubiquitin ligase complex (GO:0080008)|nucleus (GO:0005634)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)	p.?(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(8)|lung(10)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	36						GTGAAACAAGTAAGGTGTTAT	0.398																																						uc001gew.2																			1	Unknown(1)		lung(1)	ovary(1)|central_nervous_system(1)|skin(1)	3						c.e12+2		IQ motif and WD repeats 1 isoform b							71.0	72.0	71.0					1																	168012380		2203	4300	6503	SO:0001630	splice_region_variant	55827				positive regulation of transcription from RNA polymerase II promoter	CUL4 RING ubiquitin ligase complex|nucleus	ligand-dependent nuclear receptor transcription coactivator activity	g.chr1:168012380T>A	AL136738	CCDS1267.2, CCDS30933.1, CCDS55657.1, CCDS55658.1	1q23.3	2013-01-09	2009-07-17	2009-07-17	ENSG00000143164	ENSG00000143164		"""WD repeat domain containing"", ""DDB1 and CUL4 associated factors"""	30002	protein-coding gene	gene with protein product		610494	"""IQ motif and WD repeats 1"""	IQWD1		12032826	Standard	NM_018442		Approved	PC326	uc001gex.3	Q58WW2	OTTHUMG00000034572	ENST00000312263.6:c.1612+2T>A	1.37:g.168012380T>A						DCAF6_uc001gev.2_Splice_Site_p.K558_splice|DCAF6_uc001gex.2_Splice_Site_p.K615_splice|DCAF6_uc010plk.1_Splice_Site_p.K584_splice|DCAF6_uc001gey.2_Splice_Site_p.K411_splice|DCAF6_uc001gez.2_Splice_Site	p.K538_splice	NM_001017977	NP_001017977	Q58WW2	DCAF6_HUMAN			12	1854	+								A2A295|B4DNB8|Q7L8I0|Q8IXH3|Q8TB19	Splice_Site	SNP	ENST00000312263.6	37	c.1612_splice	CCDS30933.1	.	.	.	.	.	.	.	.	.	.	T	16.46	3.129386	0.56721	.	.	ENSG00000143164	ENST00000367843;ENST00000432587;ENST00000312263;ENST00000367840	.	.	.	5.18	5.18	0.71444	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.3587	0.49630	0.0:0.0:0.1515:0.8485	.	.	.	.	.	-1	.	.	.	+	.	.	DCAF6	166279004	1.000000	0.71417	0.727000	0.30756	0.328000	0.28507	5.630000	0.67805	2.096000	0.63516	0.528000	0.53228	.		PASS	0.398	DCAF6-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000083661.2	NM_018442	Intron	14	22	14	22	---	---	---	---
F5	2153	broad.mit.edu	37	1	169511512	169511512	+	Nonsense_Mutation	SNP	G	G	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr1:169511512G>T	ENST00000367797.3	-	13	3017	c.2816C>A	c.(2815-2817)tCa>tAa	p.S939*	F5_ENST00000367796.3_Nonsense_Mutation_p.S944*	NM_000130.4	NP_000121	P12259	FA5_HUMAN	coagulation factor V (proaccelerin, labile factor)	939	B.				blood circulation (GO:0008015)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)|vesicle (GO:0031982)	copper ion binding (GO:0005507)	p.S939*(1)		NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1)	128	all_hematologic(923;0.208)				ART-123(DB05777)|Drotrecogin alfa(DB00055)	AATCTTAGATGAGTTACTTTG	0.448																																						uc001ggg.1																			1	Substitution - Nonsense(1)		lung(1)	ovary(3)|large_intestine(1)|central_nervous_system(1)|skin(1)	6						c.(2815-2817)TCA>TAA		coagulation factor V precursor	Drotrecogin alfa(DB00055)						97.0	104.0	101.0					1																	169511512		2203	4300	6503	SO:0001587	stop_gained	2153				cell adhesion|platelet activation|platelet degranulation	plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity	g.chr1:169511512G>T	M14335	CCDS1281.1	1q23	2012-10-02			ENSG00000198734	ENSG00000198734			3542	protein-coding gene	gene with protein product		612309					Standard	NM_000130		Approved		uc001ggg.1	P12259	OTTHUMG00000034595	ENST00000367797.3:c.2816C>A	1.37:g.169511512G>T	ENSP00000356771:p.Ser939*						p.S939*	NM_000130	NP_000121	P12259	FA5_HUMAN			13	2961	-	all_hematologic(923;0.208)		939			B.		A8K6E8|Q14285|Q2EHR5|Q5R346|Q5R347|Q6UPU6|Q8WWQ6	Nonsense_Mutation	SNP	ENST00000367797.3	37	c.2816C>A	CCDS1281.1	.	.	.	.	.	.	.	.	.	.	G	38	6.934053	0.97944	.	.	ENSG00000198734	ENST00000367797;ENST00000367796	.	.	.	5.81	4.9	0.64082	.	0.533626	0.19553	N	0.111511	.	.	.	.	.	.	0.80722	A	1.000000	.	.	.	.	.	.	.	.	.	.	0.05721	T	0.95	-1.524	11.9968	0.53208	0.0806:0.0:0.9194:0.0	.	.	.	.	X	939;944	.	ENSP00000356770:S944X	S	-	2	0	F5	167778136	0.993000	0.37304	0.004000	0.12327	0.055000	0.15305	3.660000	0.54496	1.473000	0.48159	0.567000	0.79289	TCA		PASS	0.448	F5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000083712.1	NM_000130		74	154	74	154	---	---	---	---
PRRX1	5396	broad.mit.edu	37	1	170695457	170695457	+	Missense_Mutation	SNP	G	G	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr1:170695457G>T	ENST00000239461.6	+	3	827	c.514G>T	c.(514-516)Gtg>Ttg	p.V172L	PRRX1_ENST00000367760.3_Missense_Mutation_p.V172L|PRRX1_ENST00000497230.2_Missense_Mutation_p.V172L|PRRX1_ENST00000476867.2_3'UTR	NM_022716.2	NP_073207.1	P54821	PRRX1_HUMAN	paired related homeobox 1	172					artery morphogenesis (GO:0048844)|cartilage development (GO:0051216)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic limb morphogenesis (GO:0030326)|inner ear morphogenesis (GO:0042472)|middle ear morphogenesis (GO:0042474)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|palate development (GO:0060021)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of smoothened signaling pathway (GO:0045880)	nucleolus (GO:0005730)|nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|transcription coactivator activity (GO:0003713)	p.V172L(2)		large_intestine(2)|ovary(1)	3	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					CTCAGGAGACGTGACTGCTGT	0.562																																						uc001ghf.2																			2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(514-516)GTG>TTG		paired mesoderm homeobox 1 isoform pmx-1b							106.0	94.0	98.0					1																	170695457		2203	4300	6503	SO:0001583	missense	5396					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity	g.chr1:170695457G>T	M95929	CCDS1290.1, CCDS1291.1	1q24.3	2011-06-20	2003-11-12	2003-11-14	ENSG00000116132	ENSG00000116132		"""Homeoboxes / PRD class"""	9142	protein-coding gene	gene with protein product		167420	"""paired mesoderm homeo box 1"""	PMX1		1509260	Standard	NM_006902		Approved	PHOX1	uc001ghf.3	P54821	OTTHUMG00000035231	ENST00000239461.6:c.514G>T	1.37:g.170695457G>T	ENSP00000239461:p.Val172Leu					PRRX1_uc001ghe.2_Missense_Mutation_p.V172L	p.V172L	NM_022716	NP_073207	P54821	PRRX1_HUMAN			3	561	+	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)		172					B5BUM7|O60807	Missense_Mutation	SNP	ENST00000239461.6	37	c.514G>T	CCDS1290.1	.	.	.	.	.	.	.	.	.	.	G	19.52	3.843393	0.71488	.	.	ENSG00000116132	ENST00000367760;ENST00000239461;ENST00000497230;ENST00000476867;ENST00000495280	D;D;D;T	0.91011	-2.73;-2.77;-2.73;-1.19	5.39	5.39	0.77823	.	0.063541	0.64402	D	0.000007	D	0.91147	0.7212	L	0.60455	1.87	0.52501	D	0.999958	P;P	0.50819	0.931;0.939	P;P	0.60286	0.872;0.605	D	0.88404	0.3017	10	0.15499	T	0.54	.	17.7361	0.88394	0.0:0.0:1.0:0.0	.	172;172	P54821;P54821-2	PRRX1_HUMAN;.	L	172;172;172;17;17	ENSP00000356734:V172L;ENSP00000239461:V172L;ENSP00000450762:V172L;ENSP00000451225:V17L	ENSP00000239461:V172L	V	+	1	0	PRRX1	168962081	1.000000	0.71417	0.999000	0.59377	0.998000	0.95712	7.316000	0.79007	2.533000	0.85409	0.650000	0.86243	GTG		PASS	0.562	PRRX1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085236.3	NM_006902		40	73	40	73	---	---	---	---
FMO3	2328	broad.mit.edu	37	1	171086461	171086461	+	Nonsense_Mutation	SNP	C	C	A	rs61008738	byFrequency	TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr1:171086461C>A	ENST00000367755.4	+	9	1589	c.1478C>A	c.(1477-1479)tCg>tAg	p.S493*	FMO3_ENST00000542847.1_Nonsense_Mutation_p.S473*|FMO3_ENST00000538429.1_Nonsense_Mutation_p.S430*|FMO3_ENST00000392085.2_Nonsense_Mutation_p.S493*	NM_001002294.2	NP_001002294.1	P31513	FMO3_HUMAN	flavin containing monooxygenase 3	493					drug metabolic process (GO:0017144)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)	amino acid binding (GO:0016597)|flavin adenine dinucleotide binding (GO:0050660)|N,N-dimethylaniline monooxygenase activity (GO:0004499)|NADP binding (GO:0050661)|trimethylamine monooxygenase activity (GO:0034899)	p.S493*(1)		endometrium(1)|kidney(1)|large_intestine(12)|lung(12)|skin(1)|stomach(2)|urinary_tract(2)	31	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)				Almotriptan(DB00918)|Cimetidine(DB00501)|Clozapine(DB00363)|Dapsone(DB00250)|Dasatinib(DB01254)|Olanzapine(DB00334)|Tamoxifen(DB00675)|Vandetanib(DB05294)|Voriconazole(DB00582)	TGGGACCGGTCGTTGAAACCC	0.517																																						uc001ghi.2																			1	Substitution - Nonsense(1)		lung(1)	skin(1)	1						c.(1477-1479)TCG>TAG		flavin containing monooxygenase 3							127.0	115.0	119.0					1																	171086461		2203	4300	6503	SO:0001587	stop_gained	2328				xenobiotic metabolic process	integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome	flavin adenine dinucleotide binding|flavin-containing monooxygenase activity	g.chr1:171086461C>A	BC032016	CCDS1292.1	1q24.3	2013-10-01			ENSG00000007933	ENSG00000007933	2.6.1.16		3771	protein-coding gene	gene with protein product		136132				8486388, 9417913	Standard	NM_001002294		Approved		uc001ghh.3	P31513	OTTHUMG00000035505	ENST00000367755.4:c.1478C>A	1.37:g.171086461C>A	ENSP00000356729:p.Ser493*					FMO3_uc001ghh.2_Nonsense_Mutation_p.S493*|FMO3_uc010pmb.1_Nonsense_Mutation_p.S473*|FMO3_uc010pmc.1_Nonsense_Mutation_p.S430*	p.S493*	NM_001002294	NP_001002294	P31513	FMO3_HUMAN			9	1589	+	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)		493					B2R816|Q14854|Q8N5N5	Nonsense_Mutation	SNP	ENST00000367755.4	37	c.1478C>A	CCDS1292.1	.	.	.	.	.	.	.	.	.	.	C	22.8	4.331842	0.81801	.	.	ENSG00000007933	ENST00000367755;ENST00000392085;ENST00000542847;ENST00000538429	.	.	.	5.36	1.45	0.22620	.	0.765758	0.12572	N	0.457175	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.51188	T	0.08	0.7223	7.1173	0.25424	0.0:0.4477:0.0:0.5522	.	.	.	.	X	493;493;473;430	.	ENSP00000356729:S493X	S	+	2	0	FMO3	169353085	0.000000	0.05858	0.000000	0.03702	0.143000	0.21401	-0.095000	0.11077	0.256000	0.21614	0.655000	0.94253	TCG		PASS	0.517	FMO3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086219.1	NM_006894		64	84	64	84	---	---	---	---
DNM3	26052	broad.mit.edu	37	1	171810835	171810835	+	Silent	SNP	G	G	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr1:171810835G>T	ENST00000355305.5	+	1	196	c.39G>T	c.(37-39)gtG>gtT	p.V13V	DNM3_ENST00000367731.1_Silent_p.V13V|DNM3_ENST00000520906.1_Silent_p.V13V|DNM3_ENST00000367733.2_Silent_p.V13V|DNM3_ENST00000358155.4_Silent_p.V13V			Q9UQ16	DYN3_HUMAN	dynamin 3	13					endocytosis (GO:0006897)|filopodium assembly (GO:0046847)|GTP catabolic process (GO:0006184)|synapse assembly (GO:0007416)	dendritic spine (GO:0043197)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|mitochondrion (GO:0005739)|perinuclear region of cytoplasm (GO:0048471)|postsynaptic density (GO:0014069)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)	p.V13V(1)		NS(1)|breast(3)|endometrium(1)|kidney(1)|large_intestine(9)|lung(16)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	37						TCCCGCTGGTGAACCGTCTGC	0.687																																						uc001gie.2																			1	Substitution - coding silent(1)		lung(1)	breast(1)	1						c.(37-39)GTG>GTT		dynamin 3 isoform a							23.0	33.0	30.0					1																	171810835		2158	4278	6436	SO:0001819	synonymous_variant	26052				endocytosis|filopodium assembly|synapse assembly	dendritic spine|microtubule|perinuclear region of cytoplasm|postsynaptic density	GTP binding|GTPase activity|protein binding	g.chr1:171810835G>T	AL136712	CCDS44276.1, CCDS60356.1	1q24.1	2013-01-10			ENSG00000197959	ENSG00000197959		"""Pleckstrin homology (PH) domain containing"""	29125	protein-coding gene	gene with protein product	"""Dyna III"""	611445				10048485	Standard	NM_015569		Approved	KIAA0820	uc001gie.4	Q9UQ16	OTTHUMG00000034913	ENST00000355305.5:c.39G>T	1.37:g.171810835G>T						DNM3_uc001gid.3_Silent_p.V13V|DNM3_uc009wwb.2_Silent_p.V13V|DNM3_uc001gif.2_Silent_p.V13V	p.V13V	NM_015569	NP_056384	Q9UQ16	DYN3_HUMAN			1	215	+			13					A9Z1Y1|O14982|O95555|Q1MTM8|Q5W129|Q6P2G1|Q9H0P3|Q9H548|Q9NQ68|Q9NQN6	Silent	SNP	ENST00000355305.5	37	c.39G>T																																																																																					PASS	0.687	DNM3-003	NOVEL	not_organism_supported|basic	protein_coding	protein_coding	OTTHUMT00000084531.1	NM_015569		7	6	7	6	---	---	---	---
SLC9C2	284525	broad.mit.edu	37	1	173545879	173545879	+	Missense_Mutation	SNP	C	C	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr1:173545879C>A	ENST00000367714.3	-	8	1245	c.823G>T	c.(823-825)Ggc>Tgc	p.G275C	SLC9C2_ENST00000536496.1_Missense_Mutation_p.G173C|SLC9C2_ENST00000466087.1_5'UTR|RP3-436N22.3_ENST00000431459.1_RNA	NM_178527.3	NP_848622.2	Q5TAH2	SL9C2_HUMAN	solute carrier family 9, member C2 (putative)	275					sodium ion transport (GO:0006814)	integral component of membrane (GO:0016021)	solute:proton antiporter activity (GO:0015299)	p.G275C(1)									GCAAGAGTGCCTGACATTCCT	0.353																																						uc001giz.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(823-825)GGC>TGC		solute carrier family 9, member 11							54.0	55.0	55.0					1																	173545879		2203	4300	6503	SO:0001583	missense	284525				sodium ion transport	integral to membrane	ion channel activity|solute:hydrogen antiporter activity	g.chr1:173545879C>A	AK128104	CCDS1308.1	1q25.1	2013-07-18	2013-07-18	2012-03-22	ENSG00000162753	ENSG00000162753		"""Solute carriers"""	28664	protein-coding gene	gene with protein product			"""solute carrier family 9, isoform 11"", ""solute carrier family 9, member 11"", ""solute carrier family 9, member C2"""	SLC9A11			Standard	NM_178527		Approved	MGC43026	uc001giz.2	Q5TAH2	OTTHUMG00000034800	ENST00000367714.3:c.823G>T	1.37:g.173545879C>A	ENSP00000356687:p.Gly275Cys					SLC9A11_uc009wwe.2_Translation_Start_Site|SLC9A11_uc010pmq.1_RNA	p.G275C	NM_178527	NP_848622	Q5TAH2	S9A11_HUMAN			8	1246	-			275					Q86UF3	Missense_Mutation	SNP	ENST00000367714.3	37	c.823G>T	CCDS1308.1	.	.	.	.	.	.	.	.	.	.	C	15.99	2.996176	0.54147	.	.	ENSG00000162753	ENST00000367714;ENST00000536496	T;T	0.21543	2.0;2.0	5.48	5.48	0.80851	Cation/H+ exchanger (1);	0.000000	0.56097	D	0.000026	T	0.36193	0.0958	M	0.66939	2.045	0.34716	D	0.728215	D	0.89917	1.0	D	0.97110	1.0	T	0.28038	-1.0056	10	0.87932	D	0	-22.4944	14.8871	0.70579	0.0:1.0:0.0:0.0	.	275	Q5TAH2	S9A11_HUMAN	C	275;173	ENSP00000356687:G275C;ENSP00000445437:G173C	ENSP00000356687:G275C	G	-	1	0	SLC9A11	171812502	0.963000	0.33076	0.955000	0.39395	0.253000	0.25986	3.428000	0.52792	2.572000	0.86782	0.655000	0.94253	GGC		PASS	0.353	SLC9C2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084205.1	NM_178527		17	56	17	56	---	---	---	---
TNR	7143	broad.mit.edu	37	1	175355325	175355325	+	Silent	SNP	C	C	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr1:175355325C>A	ENST00000367674.2	-	8	2328	c.1620G>T	c.(1618-1620)ctG>ctT	p.L540L	TNR_ENST00000263525.2_Silent_p.L540L			Q92752	TENR_HUMAN	tenascin R	540	Fibronectin type-III 3. {ECO:0000255|PROSITE-ProRule:PRU00316}.				associative learning (GO:0008306)|axon guidance (GO:0007411)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|locomotory exploration behavior (GO:0035641)|long-term synaptic potentiation (GO:0060291)|negative regulation of axon extension involved in regeneration (GO:0048692)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of synaptic transmission (GO:0050805)|neuromuscular process controlling balance (GO:0050885)|neuron cell-cell adhesion (GO:0007158)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of transmission of nerve impulse (GO:0051971)|synapse organization (GO:0050808)|telencephalon cell migration (GO:0022029)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|membrane raft (GO:0045121)|nucleus (GO:0005634)|perineuronal net (GO:0072534)|proteinaceous extracellular matrix (GO:0005578)		p.L540L(1)		NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	177	Renal(580;0.146)					CCCCGCCCACCAGGCCATATT	0.597																																						uc001gkp.1																			1	Substitution - coding silent(1)		lung(1)	pancreas(5)|ovary(4)|central_nervous_system(1)|skin(1)	11						c.(1618-1620)CTG>CTT		tenascin R precursor							32.0	36.0	35.0					1																	175355325		2203	4300	6503	SO:0001819	synonymous_variant	7143				axon guidance|cell adhesion|signal transduction	proteinaceous extracellular matrix		g.chr1:175355325C>A	X98085	CCDS1318.1	1q24	2013-02-11	2012-07-12		ENSG00000116147	ENSG00000116147		"""Fibrinogen C domain containing"", ""Fibronectin type III domain containing"""	11953	protein-coding gene	gene with protein product	"""restrictin"", ""janusin"""	601995				8626505, 8940128	Standard	NM_003285		Approved		uc009wwu.1	Q92752	OTTHUMG00000034876	ENST00000367674.2:c.1620G>T	1.37:g.175355325C>A						TNR_uc009wwu.1_Silent_p.L540L	p.L540L	NM_003285	NP_003276	Q92752	TENR_HUMAN			6	1701	-	Renal(580;0.146)		540			Fibronectin type-III 3.		C9J563|Q15568|Q5R3G0	Silent	SNP	ENST00000367674.2	37	c.1620G>T	CCDS1318.1																																																																																				PASS	0.597	TNR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084414.4	NM_003285		32	52	32	52	---	---	---	---
RASAL2	9462	broad.mit.edu	37	1	178414797	178414797	+	Splice_Site	SNP	G	G	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr1:178414797G>T	ENST00000462775.1	+	7	1308	c.1183G>T	c.(1183-1185)Ggg>Tgg	p.G395W	RASAL2_ENST00000448150.3_Splice_Site_p.G525W|RASAL2_ENST00000367649.3_Splice_Site_p.G543W	NM_004841.3	NP_004832.1	Q9UJF2	NGAP_HUMAN	RAS protein activator like 2	395	Ras-GAP. {ECO:0000255|PROSITE- ProRule:PRU00167}.				negative regulation of Ras protein signal transduction (GO:0046580)|positive regulation of Ras GTPase activity (GO:0032320)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)	Ras GTPase activator activity (GO:0005099)	p.G525W(1)|p.G395W(1)|p.G543W(1)		biliary_tract(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(2)|lung(25)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	54						TGACGCACTGGGTATGAAAGA	0.373																																						uc001glr.2																			3	Substitution - Missense(3)		lung(3)	ovary(2)|breast(2)|large_intestine(1)	5						c.(1183-1185)GGG>TGG		RAS protein activator like 2 isoform 1							85.0	72.0	76.0					1																	178414797		2203	4300	6503	SO:0001630	splice_region_variant	9462				negative regulation of Ras protein signal transduction|signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	Ras GTPase activator activity	g.chr1:178414797G>T	AF047711	CCDS1321.1, CCDS1322.1, CCDS1321.2	1q25	2013-01-10			ENSG00000075391	ENSG00000075391		"""Pleckstrin homology (PH) domain containing"""	9874	protein-coding gene	gene with protein product	"""Ras GTPase activating protein-like"", ""Ras protein activator like 1"""	606136				9877179	Standard	NM_004841		Approved	nGAP	uc001glq.3	Q9UJF2	OTTHUMG00000035022	ENST00000462775.1:c.1183+1G>T	1.37:g.178414797G>T						RASAL2_uc001glq.2_Missense_Mutation_p.G543W	p.G395W	NM_004841	NP_004832	Q9UJF2	NGAP_HUMAN			7	1308	+			395			Ras-GAP.		F8W755|O95174|Q2TB22|Q5TFU9	Missense_Mutation	SNP	ENST00000462775.1	37	c.1183G>T	CCDS1322.1	.	.	.	.	.	.	.	.	.	.	G	23.4	4.416901	0.83449	.	.	ENSG00000075391	ENST00000448150;ENST00000367649;ENST00000462775	T;T;T	0.81163	-1.46;2.01;-1.46	5.28	5.28	0.74379	Rho GTPase activation protein (1);Ras GTPase-activating protein (4);	0.000000	0.85682	D	0.000000	D	0.92404	0.7589	M	0.92923	3.36	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.94047	0.7314	10	0.87932	D	0	.	18.9209	0.92525	0.0:0.0:1.0:0.0	.	395;543	Q9UJF2;F8W755	NGAP_HUMAN;.	W	525;543;395	ENSP00000407768:G525W;ENSP00000356621:G543W;ENSP00000420558:G395W	ENSP00000356621:G543W	G	+	1	0	RASAL2	176681420	1.000000	0.71417	0.991000	0.47740	0.746000	0.42486	9.652000	0.98499	2.466000	0.83321	0.655000	0.94253	GGG		PASS	0.373	RASAL2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000084758.3	NM_170692	Missense_Mutation	43	84	43	84	---	---	---	---
TDRD5	163589	broad.mit.edu	37	1	179599950	179599950	+	Missense_Mutation	SNP	G	G	C			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr1:179599950G>C	ENST00000367614.1	+	7	1380	c.1021G>C	c.(1021-1023)Gtg>Ctg	p.V341L	TDRD5_ENST00000444136.1_Missense_Mutation_p.V341L|TDRD5_ENST00000294848.8_Missense_Mutation_p.V341L	NM_001199091.1	NP_001186020.1	Q8NAT2	TDRD5_HUMAN	tudor domain containing 5	341	HTH OST-type 3. {ECO:0000255|PROSITE- ProRule:PRU00975}.				DNA methylation involved in gamete generation (GO:0043046)|P granule organization (GO:0030719)|spermatid development (GO:0007286)	chromatoid body (GO:0033391)|pi-body (GO:0071546)		p.V341L(1)		NS(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(44)|ovary(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)	77						CTTCTTAAATGTGACAGAACT	0.353																																						uc001gnf.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(2)|central_nervous_system(1)	5						c.(1021-1023)GTG>CTG		tudor domain containing 5							108.0	104.0	106.0					1																	179599950		2203	4300	6503	SO:0001583	missense	163589				DNA methylation involved in gamete generation|P granule organization|spermatid development	chromatoid body|pi-body	nucleic acid binding	g.chr1:179599950G>C	AK092142	CCDS1332.1, CCDS55663.1	1q24.2	2013-01-23			ENSG00000162782	ENSG00000162782		"""Tudor domain containing"""	20614	protein-coding gene	gene with protein product							Standard	NM_001199085		Approved	FLJ34823, TUDOR3	uc010pnp.2	Q8NAT2	OTTHUMG00000035259	ENST00000367614.1:c.1021G>C	1.37:g.179599950G>C	ENSP00000356586:p.Val341Leu					TDRD5_uc010pnp.1_Missense_Mutation_p.V341L|TDRD5_uc001gnh.1_5'UTR	p.V341L	NM_173533	NP_775804	Q8NAT2	TDRD5_HUMAN			7	1271	+			341			Lotus/OST-HTH 3.		A1L4G5|B7ZLV0|Q5EBN4|Q5VTV0|Q6ZSK2	Missense_Mutation	SNP	ENST00000367614.1	37	c.1021G>C	CCDS1332.1	.	.	.	.	.	.	.	.	.	.	G	18.91	3.724508	0.68959	.	.	ENSG00000162782	ENST00000367614;ENST00000294848;ENST00000444136	T;T;T	0.20200	2.09;2.09;2.09	5.4	4.49	0.54785	.	0.436137	0.20633	N	0.088556	T	0.31389	0.0795	M	0.66939	2.045	0.42082	D	0.991255	P;P	0.49447	0.907;0.924	P;P	0.49887	0.611;0.625	T	0.04991	-1.0913	10	0.32370	T	0.25	-19.1973	12.0939	0.53744	0.0841:0.0:0.9159:0.0	.	341;341	Q8NAT2-1;Q8NAT2	.;TDRD5_HUMAN	L	341	ENSP00000356586:V341L;ENSP00000294848:V341L;ENSP00000406052:V341L	ENSP00000294848:V341L	V	+	1	0	TDRD5	177866573	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	3.780000	0.55386	1.408000	0.46895	0.650000	0.86243	GTG		PASS	0.353	TDRD5-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000085295.1	NM_173533		55	105	55	105	---	---	---	---
CEP350	9857	broad.mit.edu	37	1	179983075	179983075	+	Missense_Mutation	SNP	G	G	T	rs201257727		TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr1:179983075G>T	ENST00000367607.3	+	10	1905	c.1487G>T	c.(1486-1488)cGg>cTg	p.R496L		NM_014810.4	NP_055625.4	Q5VT06	CE350_HUMAN	centrosomal protein 350kDa	496					microtubule anchoring (GO:0034453)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)		p.R496L(2)		central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	66						AGTAAATCTCGGTCTGAAAAT	0.373																																						uc001gnt.2																			2	Substitution - Missense(2)		lung(2)	ovary(4)	4						c.(1486-1488)CGG>CTG		centrosome-associated protein 350							53.0	56.0	55.0					1																	179983075		2203	4300	6503	SO:0001583	missense	9857					centrosome|nucleus|spindle		g.chr1:179983075G>T	AF287356	CCDS1336.1	1q25.2	2014-02-20			ENSG00000135837	ENSG00000135837			24238	protein-coding gene	gene with protein product	"""centrosome associated protein 350"""					16314388, 15615782	Standard	NM_014810		Approved	KIAA0480, CAP350	uc001gnt.3	Q5VT06	OTTHUMG00000035269	ENST00000367607.3:c.1487G>T	1.37:g.179983075G>T	ENSP00000356579:p.Arg496Leu					CEP350_uc009wxl.2_Missense_Mutation_p.R495L|CEP350_uc001gnu.2_Missense_Mutation_p.R330L	p.R496L	NM_014810	NP_055625	Q5VT06	CE350_HUMAN			10	1870	+			496					O75068|Q8TDK3|Q8WY20	Missense_Mutation	SNP	ENST00000367607.3	37	c.1487G>T	CCDS1336.1	.	.	.	.	.	.	.	.	.	.	G	14.79	2.640914	0.47153	.	.	ENSG00000135837	ENST00000367607	D	0.90069	-2.61	5.78	3.81	0.43845	.	0.343617	0.21224	N	0.078089	T	0.82125	0.4969	L	0.51422	1.61	0.25996	N	0.982184	P;P	0.40515	0.719;0.591	B;B	0.31946	0.103;0.138	T	0.74222	-0.3735	9	.	.	.	.	9.5498	0.39304	0.0758:0.1417:0.7826:0.0	.	496;496	E7EU22;Q5VT06	.;CE350_HUMAN	L	496	ENSP00000356579:R496L	.	R	+	2	0	CEP350	178249698	0.995000	0.38212	1.000000	0.80357	0.973000	0.67179	2.008000	0.40893	1.444000	0.47605	0.650000	0.86243	CGG		PASS	0.373	CEP350-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085315.2	NM_014810		61	86	61	86	---	---	---	---
CEP350	9857	broad.mit.edu	37	1	180047715	180047715	+	Missense_Mutation	SNP	G	G	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr1:180047715G>T	ENST00000367607.3	+	29	6303	c.5885G>T	c.(5884-5886)gGa>gTa	p.G1962V		NM_014810.4	NP_055625.4	Q5VT06	CE350_HUMAN	centrosomal protein 350kDa	1962					microtubule anchoring (GO:0034453)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)		p.G1962V(2)		central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	66						GAGTCTATAGGACAGGAGCAG	0.428																																						uc001gnt.2																			2	Substitution - Missense(2)		lung(2)	ovary(4)	4						c.(5884-5886)GGA>GTA		centrosome-associated protein 350							60.0	59.0	59.0					1																	180047715		2203	4300	6503	SO:0001583	missense	9857					centrosome|nucleus|spindle		g.chr1:180047715G>T	AF287356	CCDS1336.1	1q25.2	2014-02-20			ENSG00000135837	ENSG00000135837			24238	protein-coding gene	gene with protein product	"""centrosome associated protein 350"""					16314388, 15615782	Standard	NM_014810		Approved	KIAA0480, CAP350	uc001gnt.3	Q5VT06	OTTHUMG00000035269	ENST00000367607.3:c.5885G>T	1.37:g.180047715G>T	ENSP00000356579:p.Gly1962Val					CEP350_uc009wxl.2_Missense_Mutation_p.G1961V|CEP350_uc001gnv.2_Missense_Mutation_p.G97V	p.G1962V	NM_014810	NP_055625	Q5VT06	CE350_HUMAN			29	6268	+			1962					O75068|Q8TDK3|Q8WY20	Missense_Mutation	SNP	ENST00000367607.3	37	c.5885G>T	CCDS1336.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	0.004|0.004	-2.376757|-2.376757	0.00207|0.00207	.|.	.|.	ENSG00000135837|ENSG00000135837	ENST00000367607|ENST00000429851	T|.	0.42131|.	0.98|.	5.31|5.31	-7.09|-7.09	0.01553|0.01553	.|.	0.820652|.	0.10109|.	N|.	0.714958|.	T|T	0.12050|0.12050	0.0293|0.0293	N|N	0.04508|0.04508	-0.205|-0.205	0.19300|0.19300	N|N	0.999972|0.999972	B;B|.	0.02656|.	0.0;0.0|.	B;B|.	0.01281|.	0.0;0.0|.	T|T	0.28586|0.28586	-1.0039|-1.0039	9|5	.|.	.|.	.|.	.|.	6.3212|6.3212	0.21219|0.21219	0.0895:0.4504:0.3096:0.1505|0.0895:0.4504:0.3096:0.1505	.|.	1962;1962|.	E7EU22;Q5VT06|.	.;CE350_HUMAN|.	V|S	1962|136	ENSP00000356579:G1962V|.	.|.	G|R	+|+	2|3	0|2	CEP350|CEP350	178314338|178314338	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.015000|0.015000	0.08874|0.08874	-0.685000|-0.685000	0.05167|0.05167	-1.229000|-1.229000	0.02564|0.02564	-0.467000|-0.467000	0.05162|0.05162	GGA|AGG		PASS	0.428	CEP350-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085315.2	NM_014810		9	30	9	30	---	---	---	---
KIAA1614	57710	broad.mit.edu	37	1	180886163	180886163	+	Silent	SNP	C	C	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr1:180886163C>A	ENST00000367588.4	+	2	979	c.924C>A	c.(922-924)ctC>ctA	p.L308L		NM_020950.1	NP_066001.1	Q5VZ46	K1614_HUMAN	KIAA1614	308								p.L308L(1)		NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(12)|ovary(5)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	33						AGGAGATGCTCAACGTTTCTG	0.622																																						uc001gok.2																			1	Substitution - coding silent(1)		lung(1)	ovary(3)|skin(1)	4						c.(922-924)CTC>CTA		hypothetical protein LOC57710							38.0	44.0	42.0					1																	180886163		2016	4183	6199	SO:0001819	synonymous_variant	57710							g.chr1:180886163C>A	AB046834	CCDS41442.1	1q25.3	2008-02-05			ENSG00000135835	ENSG00000135835			29327	protein-coding gene	gene with protein product							Standard	NM_020950		Approved		uc001gok.2	Q5VZ46	OTTHUMG00000035183	ENST00000367588.4:c.924C>A	1.37:g.180886163C>A							p.L308L	NM_020950	NP_066001	Q5VZ46	K1614_HUMAN			2	991	+			308					Q5VZ45|Q9HCF8	Silent	SNP	ENST00000367588.4	37	c.924C>A	CCDS41442.1																																																																																				PASS	0.622	KIAA1614-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000085151.1	XM_046531		35	65	35	65	---	---	---	---
HMCN1	83872	broad.mit.edu	37	1	186157125	186157125	+	Silent	SNP	C	C	A	rs574260204		TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr1:186157125C>A	ENST00000271588.4	+	106	16754	c.16525C>A	c.(16525-16527)Cgg>Agg	p.R5509R	HMCN1_ENST00000367492.2_Silent_p.R5392R	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	5509					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.R5509R(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						CAACTACCAACGGGATCCTGT	0.483																																						uc001grq.1																			1	Substitution - coding silent(1)		lung(1)	ovary(22)|skin(1)	23						c.(16525-16527)CGG>AGG		hemicentin 1 precursor							341.0	250.0	281.0					1																	186157125		2203	4300	6503	SO:0001819	synonymous_variant	83872				response to stimulus|visual perception	basement membrane	calcium ion binding	g.chr1:186157125C>A	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.16525C>A	1.37:g.186157125C>A						HMCN1_uc001grs.1_Silent_p.R961R	p.R5509R	NM_031935	NP_114141	Q96RW7	HMCN1_HUMAN			106	16754	+			5509					A6NGE3|Q5TYR7|Q96DN3|Q96DN8|Q96SC3	Silent	SNP	ENST00000271588.4	37	c.16525C>A	CCDS30956.1																																																																																				PASS	0.483	HMCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131848.1	NM_031935		37	122	37	122	---	---	---	---
PRG4	10216	broad.mit.edu	37	1	186276374	186276374	+	Missense_Mutation	SNP	C	C	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr1:186276374C>A	ENST00000445192.2	+	7	1568	c.1523C>A	c.(1522-1524)cCc>cAc	p.P508H	PRG4_ENST00000367483.4_Missense_Mutation_p.P467H|PRG4_ENST00000367485.4_Missense_Mutation_p.P415H|PRG4_ENST00000367486.3_Missense_Mutation_p.P465H|PRG4_ENST00000367484.3_Intron	NM_005807.3	NP_005798.2	Q92954	PRG4_HUMAN	proteoglycan 4	508	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.P508H(1)		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						GAGCCTGCACCCACCACCACC	0.647																																						uc001gru.3																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(1522-1524)CCC>CAC		proteoglycan 4 isoform A							117.0	114.0	115.0					1																	186276374		2203	4298	6501	SO:0001583	missense	10216				cell proliferation|immune response	extracellular region	polysaccharide binding|protein binding|scavenger receptor activity	g.chr1:186276374C>A	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.1523C>A	1.37:g.186276374C>A	ENSP00000399679:p.Pro508His					PRG4_uc001grt.3_Missense_Mutation_p.P467H|PRG4_uc009wyl.2_Missense_Mutation_p.P415H|PRG4_uc009wym.2_Missense_Mutation_p.P374H|PRG4_uc010poo.1_Intron	p.P508H	NM_005807	NP_005798	Q92954	PRG4_HUMAN			7	1574	+			508			59 X 8 AA repeats of K-X-P-X-P-T-T-X.|21.		Q6DNC4|Q6DNC5|Q6ZMZ5|Q9BX49	Missense_Mutation	SNP	ENST00000445192.2	37	c.1523C>A	CCDS1369.1	.	.	.	.	.	.	.	.	.	.	c	6.156	0.396949	0.11638	.	.	ENSG00000116690	ENST00000367486;ENST00000367482;ENST00000367483;ENST00000367485;ENST00000445192	T;T;T;T	0.08720	3.06;3.19;3.09;3.2	3.3	0.119	0.14685	.	.	.	.	.	T	0.17704	0.0425	L	0.56199	1.76	0.19775	N	0.999957	D;D;D;D	0.76494	0.999;0.997;0.996;0.997	D;P;P;P	0.64237	0.923;0.873;0.75;0.873	T	0.10823	-1.0613	8	.	.	.	.	7.9095	0.29782	0.0:0.6967:0.0:0.3033	.	374;415;508;467	Q92954-4;Q92954-3;Q92954;Q92954-2	.;.;PRG4_HUMAN;.	H	465;374;467;415;508	ENSP00000356456:P465H;ENSP00000356453:P467H;ENSP00000356455:P415H;ENSP00000399679:P508H	.	P	+	2	0	PRG4	184542997	0.119000	0.22226	0.000000	0.03702	0.110000	0.19582	0.889000	0.28282	-0.053000	0.13289	0.298000	0.19748	CCC		PASS	0.647	PRG4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000086346.1	NM_005807		51	110	51	110	---	---	---	---
TPR	7175	broad.mit.edu	37	1	186312594	186312594	+	Missense_Mutation	SNP	C	C	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr1:186312594C>T	ENST00000367478.4	-	27	3910	c.3614G>A	c.(3613-3615)cGa>cAa	p.R1205Q		NM_003292.2	NP_003283.2	P12270	TPR_HUMAN	translocated promoter region, nuclear basket protein	1205					carbohydrate metabolic process (GO:0005975)|cellular response to heat (GO:0034605)|cellular response to interferon-alpha (GO:0035457)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|MAPK import into nucleus (GO:0000189)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic nuclear envelope disassembly (GO:0007077)|mitotic spindle assembly checkpoint (GO:0007094)|mRNA export from nucleus in response to heat stress (GO:0031990)|negative regulation of RNA export from nucleus (GO:0046832)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of translational initiation (GO:0045947)|nuclear pore organization (GO:0006999)|positive regulation of heterochromatin assembly (GO:0031453)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of mitotic cell cycle spindle assembly checkpoint (GO:0090267)|positive regulation of protein export from nucleus (GO:0046827)|positive regulation of protein import into nucleus (GO:0042307)|protein import into nucleus (GO:0006606)|regulation of glucose transport (GO:0010827)|regulation of mitotic sister chromatid separation (GO:0010965)|regulation of spindle assembly involved in mitosis (GO:1901673)|response to epidermal growth factor (GO:0070849)|RNA export from nucleus (GO:0006405)|RNA import into nucleus (GO:0006404)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytoplasmic dynein complex (GO:0005868)|extrinsic component of membrane (GO:0019898)|kinetochore (GO:0000776)|mitotic spindle (GO:0072686)|nuclear envelope (GO:0005635)|nuclear inclusion body (GO:0042405)|nuclear membrane (GO:0031965)|nuclear periphery (GO:0034399)|nuclear pore (GO:0005643)|nuclear pore nuclear basket (GO:0044615)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|dynein complex binding (GO:0070840)|heat shock protein binding (GO:0031072)|mitogen-activated protein kinase binding (GO:0051019)|mRNA binding (GO:0003729)|nucleocytoplasmic transporter activity (GO:0005487)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)|tubulin binding (GO:0015631)	p.R1206Q(1)|p.R1205Q(1)		autonomic_ganglia(1)|breast(5)|central_nervous_system(4)|cervix(2)|endometrium(9)|kidney(12)|large_intestine(23)|liver(1)|lung(45)|ovary(2)|pancreas(1)|prostate(6)|skin(3)|stomach(1)|urinary_tract(8)	123		Breast(1374;0.000659)|Lung SC(1967;0.0262)|Prostate(1639;0.157)		Colorectal(1306;1.12e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00553)		TTCTTTTTCTCGTCGTATAAA	0.338			T	NTRK1	papillary thyroid																																	uc001grv.2				Dom	yes		1	1q25	7175	T	translocated promoter region			E	NTRK1		papillary thyroid		2	Substitution - Missense(2)	p.R1205*(1)	lung(2)	ovary(2)|lung(2)|urinary_tract(1)|central_nervous_system(1)|skin(1)	7						c.(3613-3615)CGA>CAA		nuclear pore complex-associated protein TPR							72.0	67.0	69.0					1																	186312594		1863	4097	5960	SO:0001583	missense	7175				carbohydrate metabolic process|glucose transport|mitotic cell cycle spindle assembly checkpoint|mRNA transport|protein import into nucleus|regulation of glucose transport|seryl-tRNA aminoacylation|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytoplasm|nuclear membrane|nuclear pore|nucleoplasm	ATP binding|protein binding|serine-tRNA ligase activity	g.chr1:186312594C>T	U69668	CCDS41446.1	1q25	2012-03-13	2012-03-13		ENSG00000047410	ENSG00000047410			12017	protein-coding gene	gene with protein product		189940	"""translocated promoter region (to activated MET oncogene)"""			1611909, 15229283	Standard	NM_003292		Approved		uc001grv.3	P12270	OTTHUMG00000035580	ENST00000367478.4:c.3614G>A	1.37:g.186312594C>T	ENSP00000356448:p.Arg1205Gln						p.R1205Q	NM_003292	NP_003283	P12270	TPR_HUMAN		Colorectal(1306;1.12e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00553)	27	3911	-		Breast(1374;0.000659)|Lung SC(1967;0.0262)|Prostate(1639;0.157)	1205					Q15655|Q5SWY0|Q99968	Missense_Mutation	SNP	ENST00000367478.4	37	c.3614G>A	CCDS41446.1	.	.	.	.	.	.	.	.	.	.	C	29.8	5.038968	0.93630	.	.	ENSG00000047410	ENST00000367478	T	0.35605	1.3	5.07	5.07	0.68467	.	0.219734	0.40144	N	0.001175	T	0.34308	0.0893	L	0.54323	1.7	0.58432	D	0.999999	D	0.57257	0.979	B	0.37833	0.259	T	0.29579	-1.0007	10	0.39692	T	0.17	.	18.4489	0.90696	0.0:1.0:0.0:0.0	.	1205	P12270	TPR_HUMAN	Q	1205	ENSP00000356448:R1205Q	ENSP00000356448:R1205Q	R	-	2	0	TPR	184579217	1.000000	0.71417	1.000000	0.80357	0.818000	0.46254	7.487000	0.81328	2.372000	0.80975	0.561000	0.74099	CGA		PASS	0.338	TPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086353.2	NM_003292		50	89	50	89	---	---	---	---
PLA2G4A	5321	broad.mit.edu	37	1	186925314	186925314	+	Missense_Mutation	SNP	G	G	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr1:186925314G>T	ENST00000367466.3	+	14	1569	c.1417G>T	c.(1417-1419)Gtg>Ttg	p.V473L	PLA2G4A_ENST00000442353.2_Missense_Mutation_p.V413L	NM_024420.2	NP_077734	P47712	PA24A_HUMAN	phospholipase A2, group IVA (cytosolic, calcium-dependent)	473	PLA2c. {ECO:0000255|PROSITE- ProRule:PRU00555}.				arachidonic acid metabolic process (GO:0019369)|arachidonic acid secretion (GO:0050482)|blood coagulation (GO:0007596)|cardiolipin acyl-chain remodeling (GO:0035965)|cellular response to antibiotic (GO:0071236)|glycerophospholipid biosynthetic process (GO:0046474)|icosanoid biosynthetic process (GO:0046456)|icosanoid metabolic process (GO:0006690)|phosphatidic acid biosynthetic process (GO:0006654)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phosphatidylglycerol acyl-chain remodeling (GO:0036148)|phosphatidylinositol acyl-chain remodeling (GO:0036149)|phosphatidylserine acyl-chain remodeling (GO:0036150)|phospholipid catabolic process (GO:0009395)|phospholipid metabolic process (GO:0006644)|platelet activating factor biosynthetic process (GO:0006663)|platelet activation (GO:0030168)|regulation of cell proliferation (GO:0042127)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|Golgi apparatus (GO:0005794)|mitochondrial inner membrane (GO:0005743)	calcium ion binding (GO:0005509)|calcium-dependent phospholipase A2 activity (GO:0047498)|calcium-dependent phospholipid binding (GO:0005544)|lysophospholipase activity (GO:0004622)|phospholipase A2 activity (GO:0004623)	p.V473L(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(22)|ovary(1)|prostate(3)|skin(4)|stomach(1)	53					Aldesleukin(DB00041)|Carbachol(DB00411)|Carbenicillin(DB00578)|Epirubicin(DB00445)|Fluocinolone Acetonide(DB00591)|Fluticasone Propionate(DB00588)|Niflumic Acid(DB04552)|Orlistat(DB01083)|Quinacrine(DB01103)|Streptokinase(DB00086)|Suramin(DB04786)	AATGGCCTTGGTGAGTGATTC	0.413																																						uc001gsc.2																			1	Substitution - Missense(1)		lung(1)	lung(2)|breast(1)	3						c.(1417-1419)GTG>TTG		cytosolic phospholipase A2, group IVA	Flunisolide(DB00180)|Fluocinolone Acetonide(DB00591)|Fluocinonide(DB01047)|Fluorometholone(DB00324)|Flurandrenolide(DB00846)|Fluticasone Propionate(DB00588)|Medrysone(DB00253)|Quinacrine(DB01103)						148.0	132.0	137.0					1																	186925314		2203	4300	6503	SO:0001583	missense	5321				phospholipid catabolic process|platelet activating factor biosynthetic process|platelet activation	cytosol|endoplasmic reticulum membrane	calcium ion binding|calcium-dependent phospholipid binding|lysophospholipase activity	g.chr1:186925314G>T	M72393	CCDS1372.1	1q25	2014-09-17			ENSG00000116711	ENSG00000116711	3.1.1.4, 3.1.1.5		9035	protein-coding gene	gene with protein product		600522		PLA2G4		8175726	Standard	NM_024420		Approved	cPLA2-alpha	uc001gsc.3	P47712	OTTHUMG00000035512	ENST00000367466.3:c.1417G>T	1.37:g.186925314G>T	ENSP00000356436:p.Val473Leu					PLA2G4A_uc010pos.1_Missense_Mutation_p.V413L	p.V473L	NM_024420	NP_077734	P47712	PA24A_HUMAN			14	1622	+			473			PLA2c.		B1AKG4|Q29R80	Missense_Mutation	SNP	ENST00000367466.3	37	c.1417G>T	CCDS1372.1	.	.	.	.	.	.	.	.	.	.	G	5.876	0.345767	0.11126	.	.	ENSG00000116711	ENST00000367466;ENST00000442353	T;T	0.03468	3.92;3.92	5.45	2.41	0.29592	Acyl transferase/acyl hydrolase/lysophospholipase (1);Lysophospholipase, catalytic domain (3);	0.312161	0.37393	N	0.002120	T	0.01254	0.0041	N	0.02247	-0.625	0.35345	D	0.786801	B;B	0.06786	0.001;0.0	B;B	0.08055	0.003;0.002	T	0.44757	-0.9307	10	0.02654	T	1	-11.4357	5.7969	0.18392	0.2414:0.1352:0.6234:0.0	.	413;473	E7EU42;P47712	.;PA24A_HUMAN	L	473;413	ENSP00000356436:V473L;ENSP00000406892:V413L	ENSP00000356436:V473L	V	+	1	0	PLA2G4A	185191937	1.000000	0.71417	0.999000	0.59377	0.946000	0.59487	3.070000	0.50033	0.303000	0.22785	-0.123000	0.14984	GTG		PASS	0.413	PLA2G4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086236.1	NM_024420		41	56	41	56	---	---	---	---
BRINP3	339479	broad.mit.edu	37	1	190129813	190129813	+	Missense_Mutation	SNP	C	C	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr1:190129813C>A	ENST00000367462.3	-	7	1400	c.1169G>T	c.(1168-1170)aGc>aTc	p.S390I	BRINP3_ENST00000534846.1_Missense_Mutation_p.S288I	NM_199051.1	NP_950252.1	Q76B58	BRNP3_HUMAN	bone morphogenetic protein/retinoic acid inducible neural-specific 3	390					cell cycle arrest (GO:0007050)|cellular response to retinoic acid (GO:0071300)|negative regulation of mitotic cell cycle (GO:0045930)|positive regulation of neuron differentiation (GO:0045666)	dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)|neuronal cell body (GO:0043025)		p.S390I(1)									TCTTGGCAGGCTGATGAGGGG	0.378																																						uc001gse.1																			1	Substitution - Missense(1)		lung(1)	lung(2)|ovary(1)|kidney(1)|skin(1)	5						c.(1168-1170)AGC>ATC		family with sequence similarity 5, member C							101.0	97.0	99.0					1																	190129813		2203	4300	6503	SO:0001583	missense	339479					extracellular region		g.chr1:190129813C>A	AB111893	CCDS1373.1	1q31.1	2013-09-18	2013-09-18	2013-09-18	ENSG00000162670	ENSG00000162670			22393	protein-coding gene	gene with protein product			"""family with sequence similarity 5, member C"""	FAM5C		16018821, 15193423	Standard	NM_199051		Approved	DBCCR1L, DBCCR1L1	uc001gse.1	Q76B58	OTTHUMG00000035533	ENST00000367462.3:c.1169G>T	1.37:g.190129813C>A	ENSP00000356432:p.Ser390Ile					FAM5C_uc010pot.1_Missense_Mutation_p.S288I	p.S390I	NM_199051	NP_950252	Q76B58	FAM5C_HUMAN			7	1401	-	Prostate(682;0.198)		390					B3KVP1|B7Z260|O95726|Q2M330	Missense_Mutation	SNP	ENST00000367462.3	37	c.1169G>T	CCDS1373.1	.	.	.	.	.	.	.	.	.	.	C	13.14	2.148412	0.37923	.	.	ENSG00000162670	ENST00000367462;ENST00000534846	T;T	0.18502	2.48;2.21	5.6	4.67	0.58626	.	0.196117	0.53938	D	0.000044	T	0.13670	0.0331	L	0.27053	0.805	0.35176	D	0.772056	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.0	T	0.07443	-1.0772	10	0.51188	T	0.08	.	13.4222	0.61005	0.1584:0.8416:0.0:0.0	.	288;390	B7Z260;Q76B58	.;FAM5C_HUMAN	I	390;288	ENSP00000356432:S390I;ENSP00000438022:S288I	ENSP00000356432:S390I	S	-	2	0	FAM5C	188396436	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	1.649000	0.37281	1.327000	0.45338	0.573000	0.79308	AGC		PASS	0.378	BRINP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086278.1	NM_199051		58	112	58	112	---	---	---	---
ZBTB41	360023	broad.mit.edu	37	1	197160934	197160934	+	Missense_Mutation	SNP	C	C	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr1:197160934C>A	ENST00000367405.4	-	2	1284	c.1216G>T	c.(1216-1218)Gtt>Ttt	p.V406F	ZBTB41_ENST00000467322.1_5'UTR	NM_194314.2	NP_919290.2	Q5SVQ8	ZBT41_HUMAN	zinc finger and BTB domain containing 41	406					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.V406F(1)		NS(2)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(11)|lung(11)|ovary(1)|skin(3)|upper_aerodigestive_tract(2)	40						TTTCTGTGAACAGTTAGGTTA	0.398																																						uc001gtx.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(1216-1218)GTT>TTT		zinc finger and BTB domain containing 41							107.0	97.0	101.0					1																	197160934		2203	4300	6503	SO:0001583	missense	360023				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr1:197160934C>A		CCDS30960.1	1q31.3	2013-01-08			ENSG00000177888	ENSG00000177888		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	24819	protein-coding gene	gene with protein product							Standard	NM_194314		Approved	FRBZ1, FLJ36199, DKFZp686C06120, ZNF924	uc001gtx.1	Q5SVQ8	OTTHUMG00000036275	ENST00000367405.4:c.1216G>T	1.37:g.197160934C>A	ENSP00000356375:p.Val406Phe					ZBTB41_uc009wyz.1_RNA	p.V406F	NM_194314	NP_919290	Q5SVQ8	ZBT41_HUMAN			2	1285	-			406			C2H2-type 3.		A2RUA8|Q6MZT8|Q6ZR25|Q7Z4T1|Q8IZ99	Missense_Mutation	SNP	ENST00000367405.4	37	c.1216G>T	CCDS30960.1	.	.	.	.	.	.	.	.	.	.	C	17.65	3.441926	0.63067	.	.	ENSG00000177888	ENST00000367405	T	0.01705	4.68	5.89	5.89	0.94794	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.190225	0.24229	U	0.040375	T	0.03520	0.0101	L	0.45422	1.42	0.49130	D	0.999755	B	0.24483	0.104	B	0.28709	0.093	T	0.53816	-0.8385	10	0.56958	D	0.05	.	20.3171	0.98658	0.0:1.0:0.0:0.0	.	406	Q5SVQ8	ZBT41_HUMAN	F	406	ENSP00000356375:V406F	ENSP00000356375:V406F	V	-	1	0	ZBTB41	195427557	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.659000	0.68010	2.801000	0.96364	0.650000	0.86243	GTT		PASS	0.398	ZBTB41-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088249.2	NM_194314		35	59	35	59	---	---	---	---
CRB1	23418	broad.mit.edu	37	1	197403947	197403947	+	Missense_Mutation	SNP	C	C	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr1:197403947C>A	ENST00000367400.3	+	9	3089	c.2954C>A	c.(2953-2955)gCa>gAa	p.A985E	CRB1_ENST00000544212.1_Missense_Mutation_p.A466E|CRB1_ENST00000535699.1_Missense_Mutation_p.A961E|CRB1_ENST00000367397.1_Missense_Mutation_p.A366E|CRB1_ENST00000538660.1_Intron|CRB1_ENST00000367399.2_Missense_Mutation_p.A873E	NM_201253.2	NP_957705.1	P82279	CRUM1_HUMAN	crumbs family member 1, photoreceptor morphogenesis associated	985	Laminin G-like 3. {ECO:0000255|PROSITE- ProRule:PRU00122}.				cell-cell signaling (GO:0007267)|establishment or maintenance of cell polarity (GO:0007163)|eye photoreceptor cell development (GO:0042462)|plasma membrane organization (GO:0007009)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|microvillus (GO:0005902)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.A985E(1)		NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(13)|kidney(4)|large_intestine(21)|lung(58)|ovary(7)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	132						ACAAGGGATGCAAATGTAATA	0.338																																						uc001gtz.2																			1	Substitution - Missense(1)		lung(1)	ovary(5)|skin(3)|large_intestine(1)	9						c.(2953-2955)GCA>GAA		crumbs homolog 1 precursor							73.0	78.0	76.0					1																	197403947		2203	4300	6503	SO:0001583	missense	23418				cell-cell signaling|establishment or maintenance of cell polarity	apical plasma membrane|extracellular region|integral to membrane	calcium ion binding|protein binding	g.chr1:197403947C>A		CCDS1390.1, CCDS53454.1, CCDS58052.1, CCDS58053.1	1q31-q32.1	2014-02-06	2014-02-06		ENSG00000134376	ENSG00000134376			2343	protein-coding gene	gene with protein product		604210	"""crumbs (Drosophila) homolog 1"", ""crumbs homolog 1 (Drosophila)"""	RP12		10373321, 10508521	Standard	NM_201253		Approved	LCA8	uc001gtz.3	P82279	OTTHUMG00000035663	ENST00000367400.3:c.2954C>A	1.37:g.197403947C>A	ENSP00000356370:p.Ala985Glu					CRB1_uc010poz.1_Missense_Mutation_p.A961E|CRB1_uc010ppa.1_RNA|CRB1_uc009wza.2_Missense_Mutation_p.A873E|CRB1_uc010ppb.1_Intron|CRB1_uc010ppd.1_Missense_Mutation_p.A466E|CRB1_uc001gub.1_Missense_Mutation_p.A634E	p.A985E	NM_201253	NP_957705	P82279	CRUM1_HUMAN			9	3089	+			985			Extracellular (Potential).|Laminin G-like 3.		A2A308|B7Z5T2|B9EG71|Q5K3A6|Q5TC28|Q5VUT1|Q6N027|Q8WWY0|Q8WWY1	Missense_Mutation	SNP	ENST00000367400.3	37	c.2954C>A	CCDS1390.1	.	.	.	.	.	.	.	.	.	.	C	6.872	0.530196	0.13127	.	.	ENSG00000134376	ENST00000535699;ENST00000367400;ENST00000367399;ENST00000544212;ENST00000367397;ENST00000367401	T;T;T;T;T	0.77229	-1.08;-1.08;-1.08;-1.08;-1.08	5.34	3.48	0.39840	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 2 (1);	.	.	.	.	T	0.72787	0.3504	L	0.43152	1.355	0.09310	N	1	P;P;P;P	0.49559	0.763;0.925;0.493;0.896	B;P;B;P	0.46659	0.242;0.523;0.124;0.516	T	0.62039	-0.6938	9	0.54805	T	0.06	.	7.8589	0.29499	0.1314:0.7273:0.0:0.1413	.	961;873;634;985	F5H0L2;P82279-3;P82279-4;P82279	.;.;.;CRUM1_HUMAN	E	961;985;873;466;366;634	ENSP00000438786:A961E;ENSP00000356370:A985E;ENSP00000356369:A873E;ENSP00000444556:A466E;ENSP00000356367:A366E	ENSP00000356367:A366E	A	+	2	0	CRB1	195670570	0.008000	0.16893	0.010000	0.14722	0.024000	0.10985	1.753000	0.38359	0.632000	0.30432	-0.136000	0.14681	GCA		PASS	0.338	CRB1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086565.2	NM_201253		55	130	55	130	---	---	---	---
GPR25	2848	broad.mit.edu	37	1	200842988	200842988	+	Missense_Mutation	SNP	C	C	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr1:200842988C>A	ENST00000304244.2	+	1	906	c.823C>A	c.(823-825)Ctg>Atg	p.L275M		NM_005298.2	NP_005289.2	O00155	GPR25_HUMAN	G protein-coupled receptor 25	275					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)	p.L275M(1)		large_intestine(1)|lung(2)|ovary(1)|skin(1)	5						TCTGGGGGCGCTGCCGCTGCC	0.692																																						uc001gvn.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(823-825)CTG>ATG		G protein-coupled receptor 25							14.0	17.0	16.0					1																	200842988		2115	4189	6304	SO:0001583	missense	2848					integral to plasma membrane		g.chr1:200842988C>A	U91939	CCDS1405.1	1q32.1	2012-08-21			ENSG00000170128	ENSG00000170128		"""GPCR / Class A : Orphans"""	4480	protein-coding gene	gene with protein product		602174				9020062	Standard	NM_005298		Approved		uc001gvn.2	O00155	OTTHUMG00000035788	ENST00000304244.2:c.823C>A	1.37:g.200842988C>A	ENSP00000301917:p.Leu275Met						p.L275M	NM_005298	NP_005289	O00155	GPR25_HUMAN			1	823	+			275			Extracellular (Potential).		A0AVJ5	Missense_Mutation	SNP	ENST00000304244.2	37	c.823C>A	CCDS1405.1	.	.	.	.	.	.	.	.	.	.	C	14.85	2.658481	0.47467	.	.	ENSG00000170128	ENST00000304244	T	0.69561	-0.41	4.62	3.7	0.42460	GPCR, rhodopsin-like superfamily (1);	0.000000	0.26903	U	0.021902	T	0.73845	0.3639	L	0.58101	1.795	0.20074	N	0.999937	D	0.65815	0.995	D	0.66497	0.944	T	0.63175	-0.6696	10	0.62326	D	0.03	-6.5059	8.3171	0.32106	0.0:0.8204:0.0:0.1796	.	275	O00155	GPR25_HUMAN	M	275	ENSP00000301917:L275M	ENSP00000301917:L275M	L	+	1	2	GPR25	199109611	0.001000	0.12720	0.994000	0.49952	0.939000	0.58152	0.874000	0.28065	2.121000	0.65114	0.456000	0.33151	CTG		PASS	0.692	GPR25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087056.1	NM_005298		17	13	17	13	---	---	---	---
KIF21B	23046	broad.mit.edu	37	1	200946404	200946404	+	Missense_Mutation	SNP	T	T	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr1:200946404T>A	ENST00000422435.2	-	31	4577	c.4261A>T	c.(4261-4263)Agc>Tgc	p.S1421C	KIF21B_ENST00000461742.2_Missense_Mutation_p.S1421C|KIF21B_ENST00000332129.2_Missense_Mutation_p.S1408C|KIF21B_ENST00000360529.5_Missense_Mutation_p.S1408C	NM_001252100.1	NP_001239029.1	O75037	KI21B_HUMAN	kinesin family member 21B	1421					ATP catabolic process (GO:0006200)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.S1408C(1)		autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(4)|large_intestine(8)|liver(1)|lung(27)|ovary(3)|pancreas(1)|prostate(5)|skin(8)|stomach(2)|urinary_tract(2)	83						CCCGAAGGGCTGAGGGCGATC	0.647																																						uc001gvs.1																			1	Substitution - Missense(1)		lung(1)	ovary(3)|skin(3)	6						c.(4261-4263)AGC>TGC		kinesin family member 21B							146.0	130.0	136.0					1																	200946404		2203	4300	6503	SO:0001583	missense	23046				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr1:200946404T>A	BC031927	CCDS30965.1, CCDS58054.1, CCDS58055.1, CCDS58056.1	1q32.1	2013-01-10			ENSG00000116852	ENSG00000116852		"""Kinesins"", ""WD repeat domain containing"""	29442	protein-coding gene	gene with protein product		608322				9455484	Standard	NM_001252100		Approved	DKFZP434J212, KIAA0449	uc001gvs.2	O75037	OTTHUMG00000035787	ENST00000422435.2:c.4261A>T	1.37:g.200946404T>A	ENSP00000411831:p.Ser1421Cys					KIF21B_uc001gvr.1_Missense_Mutation_p.S1408C|KIF21B_uc009wzl.1_Missense_Mutation_p.S1421C|KIF21B_uc010ppn.1_Missense_Mutation_p.S1408C	p.S1421C	NM_017596	NP_060066	O75037	KI21B_HUMAN			31	4578	-			1421			WD 3.		B2RP62|B7ZMI0|Q5T4J3	Missense_Mutation	SNP	ENST00000422435.2	37	c.4261A>T	CCDS58056.1	.	.	.	.	.	.	.	.	.	.	T	17.99	3.523516	0.64747	.	.	ENSG00000116852	ENST00000332129;ENST00000360529;ENST00000461742;ENST00000422435;ENST00000539858	T;T;T;T	0.10960	2.82;2.82;2.82;2.82	4.88	4.88	0.63580	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.159728	0.56097	D	0.000035	T	0.18718	0.0449	L	0.43923	1.385	0.38292	D	0.94272	D;D;D;D	0.56287	0.975;0.975;0.975;0.969	P;P;P;P	0.52957	0.714;0.621;0.621;0.591	T	0.02358	-1.1171	10	0.87932	D	0	.	14.4937	0.67670	0.0:0.0:0.0:1.0	.	1408;1421;1421;1408	B7ZMI0;B2RP62;O75037;O75037-2	.;.;KI21B_HUMAN;.	C	1408;1408;1421;1421;1421	ENSP00000328494:S1408C;ENSP00000353724:S1408C;ENSP00000433808:S1421C;ENSP00000411831:S1421C	ENSP00000328494:S1408C	S	-	1	0	KIF21B	199213027	1.000000	0.71417	1.000000	0.80357	0.048000	0.14542	5.965000	0.70387	1.825000	0.53177	0.459000	0.35465	AGC		PASS	0.647	KIF21B-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000382635.1	XM_371332		74	144	74	144	---	---	---	---
SYT2	127833	broad.mit.edu	37	1	202573743	202573743	+	Missense_Mutation	SNP	G	G	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr1:202573743G>T	ENST00000367267.1	-	3	377	c.185C>A	c.(184-186)cCc>cAc	p.P62H	SYT2_ENST00000367268.4_Missense_Mutation_p.P62H|RP11-569A11.1_ENST00000428573.1_RNA	NM_001136504.1	NP_001129976.1	Q8N9I0	SYT2_HUMAN	synaptotagmin II	62					neurotransmitter secretion (GO:0007269)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|endocytic vesicle membrane (GO:0030666)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|transporter activity (GO:0005215)	p.P62H(1)		NS(1)|breast(4)|endometrium(3)|kidney(1)|large_intestine(5)|liver(1)|lung(9)|ovary(2)|skin(2)|urinary_tract(1)	29			BRCA - Breast invasive adenocarcinoma(75;0.169)		Botulinum Toxin Type B(DB00042)	CAGTGCCCAGGGTGGTACTGC	0.547																																						uc001gye.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(1)	3						c.(184-186)CCC>CAC		synaptotagmin II	Botulinum Toxin Type B(DB00042)						77.0	62.0	67.0					1																	202573743		2203	4300	6503	SO:0001583	missense	127833				neurotransmitter secretion	cell junction|chromaffin granule membrane|endocytic vesicle membrane|integral to membrane|synaptic vesicle membrane	protein binding|transporter activity	g.chr1:202573743G>T	AK090672	CCDS1427.1	1q32.1	2013-01-21			ENSG00000143858	ENSG00000143858		"""Synaptotagmins"""	11510	protein-coding gene	gene with protein product		600104				7749232	Standard	NM_177402		Approved		uc010pqb.2	Q8N9I0	OTTHUMG00000041388	ENST00000367267.1:c.185C>A	1.37:g.202573743G>T	ENSP00000356236:p.Pro62His					SYT2_uc010pqb.1_Missense_Mutation_p.P62H|SYT2_uc009xaf.2_Intron	p.P62H	NM_001136504	NP_001129976	Q8N9I0	SYT2_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.169)		3	378	-			62			Vesicular (Potential).		Q496K5|Q8NBE5	Missense_Mutation	SNP	ENST00000367267.1	37	c.185C>A	CCDS1427.1	.	.	.	.	.	.	.	.	.	.	G	17.29	3.350948	0.61183	.	.	ENSG00000143858	ENST00000367268;ENST00000367267	T;T	0.50277	0.75;0.75	5.03	5.03	0.67393	.	0.179396	0.50627	D	0.000120	T	0.65260	0.2674	M	0.74258	2.255	0.80722	D	1	D	0.67145	0.996	P	0.57371	0.819	T	0.67662	-0.5613	10	0.48119	T	0.1	.	18.7093	0.91651	0.0:0.0:1.0:0.0	.	62	Q8N9I0	SYT2_HUMAN	H	62	ENSP00000356237:P62H;ENSP00000356236:P62H	ENSP00000356236:P62H	P	-	2	0	SYT2	200840366	1.000000	0.71417	0.996000	0.52242	0.588000	0.36517	7.780000	0.85658	2.494000	0.84150	0.561000	0.74099	CCC		PASS	0.547	SYT2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000099157.1	NM_177402		16	36	16	36	---	---	---	---
PPFIA4	8497	broad.mit.edu	37	1	203037726	203037726	+	Silent	SNP	G	G	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr1:203037726G>T	ENST00000447715.2	+	32	3669	c.3228G>T	c.(3226-3228)ctG>ctT	p.L1076L	PPFIA4_ENST00000367240.2_Silent_p.L1077L|PPFIA4_ENST00000272198.6_Silent_p.L592L|PPFIA4_ENST00000599966.1_Silent_p.L583L|PPFIA4_ENST00000295706.4_Silent_p.L583L|PPFIA4_ENST00000414050.2_Silent_p.L805L			O75335	LIPA4_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 4	1076	SAM 3. {ECO:0000255|PROSITE- ProRule:PRU00184}.				cell-matrix adhesion (GO:0007160)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|intracellular (GO:0005622)|presynaptic active zone (GO:0048786)		p.L592L(1)|p.L1222L(1)		NS(1)|autonomic_ganglia(1)|breast(3)|endometrium(6)|kidney(2)|large_intestine(8)|lung(20)|ovary(4)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	50						CACTGGCCCTGATCCTCCAGA	0.552																																						uc001gyz.2																			2	Substitution - coding silent(2)		lung(2)	ovary(4)|skin(1)	5						c.(1774-1776)CTG>CTT		protein tyrosine phosphatase, receptor type, f							54.0	54.0	54.0					1																	203037726		2060	4202	6262	SO:0001819	synonymous_variant	8497				cell communication	cell surface|cytoplasm	protein binding	g.chr1:203037726G>T	AF034801	CCDS44296.1	1q32.1	2013-01-10			ENSG00000143847	ENSG00000143847		"""Sterile alpha motif (SAM) domain containing"""	9248	protein-coding gene	gene with protein product	"""Liprin-alpha4"""	603145				9624153	Standard	XM_005245553		Approved		uc009xaj.3	O75335	OTTHUMG00000042123	ENST00000447715.2:c.3228G>T	1.37:g.203037726G>T						PPFIA4_uc009xaj.2_Silent_p.L1223L|PPFIA4_uc010pqf.1_Silent_p.L805L|PPFIA4_uc001gza.2_Silent_p.L583L|PPFIA4_uc001gzb.1_Silent_p.L278L|PPFIA4_uc001gzc.1_Silent_p.L134L	p.L592L	NM_015053	NP_055868	O75335	LIPA4_HUMAN			14	2369	+			592			SAM 3.		A2RUJ5|B1APN8|B1N949|B7ZM43|O94971	Silent	SNP	ENST00000447715.2	37	c.1776G>T																																																																																					PASS	0.552	PPFIA4-005	NOVEL	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000462949.1	NM_015053		10	11	10	11	---	---	---	---
CHIT1	1118	broad.mit.edu	37	1	203186086	203186086	+	Silent	SNP	C	C	G			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr1:203186086C>G	ENST00000367229.1	-	11	1366	c.1332G>C	c.(1330-1332)cgG>cgC	p.R444R	CHIT1_ENST00000484834.1_Intron|CHIT1_ENST00000255427.3_Silent_p.R425R|CHIT1_ENST00000535569.1_Silent_p.R435R	NM_001270509.1|NM_003465.2	NP_001257438.1|NP_003456.1	Q13231	CHIT1_HUMAN	chitinase 1 (chitotriosidase)	444	Chitin-binding type-2. {ECO:0000255|PROSITE-ProRule:PRU00144}.				chitin catabolic process (GO:0006032)|immune response (GO:0006955)|polysaccharide catabolic process (GO:0000272)|response to bacterium (GO:0009617)	extracellular space (GO:0005615)|lysosome (GO:0005764)	chitin binding (GO:0008061)|chitinase activity (GO:0004568)|endochitinase activity (GO:0008843)	p.R444R(1)		central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(13)|ovary(1)|stomach(2)	27						GCTGGAACAGCCGCCCCGCTG	0.597											OREG0014113	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc001gzn.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(1330-1332)CGG>CGC		chitotriosidase precursor							87.0	91.0	90.0					1																	203186086		2203	4300	6503	SO:0001819	synonymous_variant	1118				chitin catabolic process|immune response|response to bacterium	extracellular space|lysosome	cation binding|chitin binding|endochitinase activity	g.chr1:203186086C>G	U29615	CCDS1436.1, CCDS58057.1	1q32.1	2013-06-06			ENSG00000133063	ENSG00000133063			1936	protein-coding gene	gene with protein product		600031				9748235, 9492324	Standard	NM_003465		Approved	CHIT, CHI3	uc001gzn.2	Q13231	OTTHUMG00000042126	ENST00000367229.1:c.1332G>C	1.37:g.203186086C>G			OREG0014113	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	2135	FMOD_uc010pqi.1_Intron|CHIT1_uc001gzm.1_Intron|CHIT1_uc009xal.1_Silent_p.R206R|CHIT1_uc009xam.1_RNA|CHIT1_uc009xan.1_RNA|CHIT1_uc001gzo.2_Silent_p.R435R	p.R444R	NM_003465	NP_003456	Q13231	CHIT1_HUMAN			11	1428	-			444			Chitin-binding type-2.		B3KNW6|J3KN09|Q0VGG5|Q0VGG6|Q3ZAR1|Q6ISC2|Q9H3V8|Q9UDJ8	Silent	SNP	ENST00000367229.1	37	c.1332G>C	CCDS1436.1																																																																																				PASS	0.597	CHIT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000100275.2	NM_003465		63	148	63	148	---	---	---	---
NFASC	23114	broad.mit.edu	37	1	204943341	204943341	+	Missense_Mutation	SNP	G	G	C			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr1:204943341G>C	ENST00000401399.1	+	12	1513	c.1314G>C	c.(1312-1314)caG>caC	p.Q438H	NFASC_ENST00000367172.4_Missense_Mutation_p.Q438H|NFASC_ENST00000367169.4_Missense_Mutation_p.Q438H|NFASC_ENST00000513543.1_Missense_Mutation_p.Q449H|NFASC_ENST00000339876.6_Missense_Mutation_p.Q438H|NFASC_ENST00000360049.4_Missense_Mutation_p.Q449H|NFASC_ENST00000338515.6_Missense_Mutation_p.Q438H|NFASC_ENST00000367171.4_Missense_Mutation_p.Q438H|NFASC_ENST00000404907.1_Missense_Mutation_p.Q449H|NFASC_ENST00000539706.1_Missense_Mutation_p.Q449H|NFASC_ENST00000403080.1_Missense_Mutation_p.Q438H|NFASC_ENST00000338586.6_Missense_Mutation_p.Q438H|NFASC_ENST00000367170.4_Missense_Mutation_p.Q438H|NFASC_ENST00000404076.1_Missense_Mutation_p.Q432H			O94856	NFASC_HUMAN	neurofascin	438	Ig-like C2-type 5.				axon guidance (GO:0007411)|clustering of voltage-gated sodium channels (GO:0045162)|heterotypic cell-cell adhesion (GO:0034113)|myelination (GO:0042552)|paranodal junction assembly (GO:0030913)|peripheral nervous system development (GO:0007422)|protein localization to juxtaparanode region of axon (GO:0071205)|protein localization to paranode region of axon (GO:0002175)|synapse organization (GO:0050808)|transmission of nerve impulse (GO:0019226)	axon initial segment (GO:0043194)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|node of Ranvier (GO:0033268)|paranodal junction (GO:0033010)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)		p.Q438H(2)|p.Q449H(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	81	all_cancers(21;0.0375)|Breast(84;0.0437)|all_epithelial(62;0.171)|Prostate(682;0.19)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)			CCCGGAACCAGCTCATTCGAG	0.557																																						uc001hbj.2																			3	Substitution - Missense(3)		lung(3)	ovary(3)|breast(1)|central_nervous_system(1)|skin(1)	6						c.(1312-1314)CAG>CAC		neurofascin isoform 1 precursor							81.0	58.0	66.0					1																	204943341		2203	4300	6503	SO:0001583	missense	23114				axon guidance|cell adhesion|myelination|peripheral nervous system development	integral to membrane|node of Ranvier|plasma membrane	protein binding	g.chr1:204943341G>C	AK027553	CCDS30982.1, CCDS53460.1, CCDS53461.1, CCDS53462.1	1q32.1	2013-02-11	2010-06-24		ENSG00000163531	ENSG00000163531		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	29866	protein-coding gene	gene with protein product		609145	"""neurofascin homolog (chicken)"""			1377696, 8672144	Standard	NM_015090		Approved	NRCAML, KIAA0756, FLJ46866, NF	uc001hbj.3	O94856	OTTHUMG00000151697	ENST00000401399.1:c.1314G>C	1.37:g.204943341G>C	ENSP00000385637:p.Gln438His					NFASC_uc001hbh.2_Missense_Mutation_p.Q438H|NFASC_uc010pqz.1_Missense_Mutation_p.Q432H|NFASC_uc010pra.1_Missense_Mutation_p.Q449H|NFASC_uc001hbi.2_Missense_Mutation_p.Q449H|NFASC_uc009xbg.1_Missense_Mutation_p.Q522H|NFASC_uc010prb.1_Missense_Mutation_p.Q449H|NFASC_uc010prc.1_5'UTR|NFASC_uc001hbk.1_Missense_Mutation_p.Q259H	p.Q438H	NM_001005388	NP_001005388	O94856	NFASC_HUMAN	KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)		13	1642	+	all_cancers(21;0.0375)|Breast(84;0.0437)|all_epithelial(62;0.171)|Prostate(682;0.19)		438			Extracellular (Potential).|Ig-like C2-type 5.		B2RNN8|B3KQZ1|B5MDP6|B5MDR6|B7ZMD8|Q149P5|Q5T2F0|Q5T2F1|Q5T2F2|Q5T2F3|Q5T2F4|Q5T2F5|Q5T2F6|Q5T2F7|Q5T2F9|Q5T2G0|Q5W9F8|Q68DH3|Q6ZQV6|Q7Z3K1|Q96HT1|Q96K50	Missense_Mutation	SNP	ENST00000401399.1	37	c.1314G>C	CCDS53460.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	16.66|16.66	3.186030|3.186030	0.57909|0.57909	.|.	.|.	ENSG00000163531|ENSG00000163531	ENST00000367172;ENST00000367171;ENST00000367170;ENST00000338515;ENST00000339876;ENST00000338586;ENST00000295776;ENST00000539706;ENST00000360049;ENST00000367169;ENST00000403080;ENST00000404076;ENST00000401399;ENST00000404907;ENST00000513543;ENST00000430393|ENST00000367173	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T|.	0.68025|.	-0.3;1.61;-0.27;-0.28;-0.27;-0.28;-0.22;-0.2;-0.25;1.61;1.61;-0.27;-0.22;-0.2;-0.19|.	5.54|5.54	4.63|4.63	0.57726|0.57726	.|.	0.000000|.	0.50627|.	D|.	0.000120|.	T|T	0.60932|0.60932	0.2307|0.2307	L|L	0.48218|0.48218	1.51|1.51	0.58432|0.58432	D|D	0.999997|0.999997	P;P;P;P;B;P;D|.	0.76494|.	0.48;0.6;0.536;0.814;0.275;0.861;0.999|.	B;B;B;B;B;B;D|.	0.74348|.	0.213;0.381;0.319;0.381;0.064;0.35;0.983|.	T|T	0.58272|0.58272	-0.7665|-0.7665	10|5	0.48119|.	T|.	0.1|.	.|.	13.9518|13.9518	0.64123|0.64123	0.0739:0.0:0.9261:0.0|0.0739:0.0:0.9261:0.0	.|.	449;449;534;438;438;449;438|.	O94856-11;O94856-8;B4DRH7;F8W791;O94856-9;O94856-3;O94856-2|.	.;.;.;.;.;.;.|.	H|T	438;438;438;438;438;438;449;449;449;438;438;432;438;449;449;425|408	ENSP00000356140:Q438H;ENSP00000356139:Q438H;ENSP00000356138:Q438H;ENSP00000342128:Q438H;ENSP00000344786:Q438H;ENSP00000343509:Q438H;ENSP00000438614:Q449H;ENSP00000353154:Q449H;ENSP00000356137:Q438H;ENSP00000384875:Q438H;ENSP00000385676:Q432H;ENSP00000385637:Q438H;ENSP00000384061:Q449H;ENSP00000425908:Q449H;ENSP00000415031:Q425H|.	ENSP00000295776:Q449H|.	Q|S	+|+	3|2	2|0	NFASC|NFASC	203209964|203209964	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.979000|0.979000	0.70002|0.70002	4.547000|4.547000	0.60712|0.60712	1.340000|1.340000	0.45581|0.45581	0.585000|0.585000	0.79938|0.79938	CAG|AGC		PASS	0.557	NFASC-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000131237.1	NM_001005388		21	41	21	41	---	---	---	---
CNTN2	6900	broad.mit.edu	37	1	205033820	205033820	+	Silent	SNP	C	C	G			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr1:205033820C>G	ENST00000331830.4	+	12	1745	c.1461C>G	c.(1459-1461)acC>acG	p.T487T	AL583832.1_ENST00000515887.1_RNA	NM_005076.3	NP_005067.1	Q02246	CNTN2_HUMAN	contactin 2 (axonal)	487	Ig-like C2-type 5.				adult walking behavior (GO:0007628)|axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|cell adhesion (GO:0007155)|cellular protein localization (GO:0034613)|central nervous system myelination (GO:0022010)|cerebral cortex GABAergic interneuron migration (GO:0021853)|clustering of voltage-gated potassium channels (GO:0045163)|establishment of protein localization to juxtaparanode region of axon (GO:0071206)|learning (GO:0007612)|microtubule cytoskeleton organization (GO:0000226)|negative regulation of neuron differentiation (GO:0045665)|positive regulation of adenosine receptor signaling pathway (GO:0060168)|positive regulation of protein processing (GO:0010954)|presynaptic membrane organization (GO:0097090)|receptor internalization (GO:0031623)|regulation of astrocyte differentiation (GO:0048710)|regulation of axon diameter (GO:0031133)|regulation of neuronal synaptic plasticity (GO:0048168)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|juxtaparanode region of axon (GO:0044224)|myelin sheath (GO:0043209)|neuronal cell body (GO:0043025)|node of Ranvier (GO:0033268)|plasma membrane (GO:0005886)|synapse (GO:0045202)|voltage-gated potassium channel complex (GO:0008076)	carbohydrate binding (GO:0030246)|identical protein binding (GO:0042802)	p.T487T(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(11)|lung(23)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	54	all_cancers(21;0.144)|Breast(84;0.0437)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)			GCAAATACACCTGCTTTGCTG	0.542																																					Melanoma(183;2548 2817 37099 41192)	uc001hbr.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(1459-1461)ACC>ACG		contactin 2 precursor							164.0	143.0	151.0					1																	205033820		2203	4300	6503	SO:0001819	synonymous_variant	6900				axon guidance|clustering of voltage-gated potassium channels	anchored to membrane|juxtaparanode region of axon|myelin sheath|node of Ranvier|synapse part	identical protein binding	g.chr1:205033820C>G	X67734	CCDS1449.1	1q32.1	2013-02-11			ENSG00000184144	ENSG00000184144		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	2172	protein-coding gene	gene with protein product		190197		TAX, AXT		8307567, 8586965	Standard	NM_005076		Approved	TAG-1, TAX1	uc001hbr.3	Q02246	OTTHUMG00000037105	ENST00000331830.4:c.1461C>G	1.37:g.205033820C>G						CNTN2_uc001hbq.1_Silent_p.T378T|CNTN2_uc001hbs.2_Silent_p.T275T	p.T487T	NM_005076	NP_005067	Q02246	CNTN2_HUMAN	KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)		12	1730	+	all_cancers(21;0.144)|Breast(84;0.0437)		487			Ig-like C2-type 5.		P78432|Q5T054	Silent	SNP	ENST00000331830.4	37	c.1461C>G	CCDS1449.1																																																																																				PASS	0.542	CNTN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090080.3	NM_005076		33	195	33	195	---	---	---	---
CR1	1378	broad.mit.edu	37	1	207753697	207753697	+	Missense_Mutation	SNP	A	A	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr1:207753697A>T	ENST00000367049.4	+	30	5049	c.5049A>T	c.(5047-5049)agA>agT	p.R1683S	RP11-78B10.2_ENST00000596003.1_RNA|CR1_ENST00000367052.1_Missense_Mutation_p.R1233S|CR1_ENST00000367053.1_Missense_Mutation_p.R1233S|CR1_ENST00000367051.1_Missense_Mutation_p.R1233S|RP11-78B10.2_ENST00000597497.1_RNA|CR1_ENST00000400960.2_Missense_Mutation_p.R1233S	NM_000651.4	NP_000642.3	P17927	CR1_HUMAN	complement component (3b/4b) receptor 1 (Knops blood group)	1233	Sushi 26. {ECO:0000255|PROSITE- ProRule:PRU00302}.				complement activation, classical pathway (GO:0006958)|complement receptor mediated signaling pathway (GO:0002430)|innate immune response (GO:0045087)|negative regulation of complement activation, alternative pathway (GO:0045957)|negative regulation of complement activation, classical pathway (GO:0045959)|negative regulation of serine-type endopeptidase activity (GO:1900004)|positive regulation of serine-type endopeptidase activity (GO:1900005)|regulation of complement activation (GO:0030449)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	complement component C3b binding (GO:0001851)|complement component C3b receptor activity (GO:0004877)|complement component C4b binding (GO:0001855)|complement component C4b receptor activity (GO:0001861)	p.R1683S(1)|p.R1238S(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(9)|kidney(11)|large_intestine(13)|lung(33)|ovary(3)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	82						ATGACCTCAGAGGGGCTGCGT	0.562																																						uc001hfy.2																			2	Substitution - Missense(2)		lung(2)	ovary(3)	3						c.(3697-3699)AGA>AGT		complement receptor 1 isoform F precursor							112.0	116.0	115.0					1																	207753697		1969	4165	6134	SO:0001583	missense	1378				complement activation, classical pathway|innate immune response	integral to plasma membrane	complement receptor activity	g.chr1:207753697A>T	Y00816	CCDS44308.1, CCDS44309.1	1q32	2014-07-19	2006-01-12		ENSG00000203710	ENSG00000203710		"""CD molecules"", ""Blood group antigens"", ""Complement system"""	2334	protein-coding gene	gene with protein product		120620	"""complement component (3b/4b) receptor 1, including Knops blood group system"""			1708809	Standard	XM_005273064		Approved	CD35, KN	uc001hfx.3	P17927	OTTHUMG00000036311	ENST00000367049.4:c.5049A>T	1.37:g.207753697A>T	ENSP00000356016:p.Arg1683Ser					CR1_uc009xcl.1_Missense_Mutation_p.R783S|CR1_uc001hfx.2_Missense_Mutation_p.R1683S	p.R1233S	NM_000573	NP_000564	P17927	CR1_HUMAN			22	3839	+			1233			Extracellular (Potential).|Sushi 19.		Q16744|Q16745|Q5SR43|Q5SR45|Q9UQV2	Missense_Mutation	SNP	ENST00000367049.4	37	c.3699A>T	CCDS44308.1	.	.	.	.	.	.	.	.	.	.	A	9.966	1.224105	0.22457	.	.	ENSG00000203710	ENST00000367052;ENST00000367051;ENST00000367053;ENST00000400960;ENST00000534202;ENST00000367049	T;T;T;T;T;T	0.62941	-0.01;-0.01;-0.01;-0.01;-0.01;-0.01	4.38	-4.36	0.03645	Complement control module (2);Sushi/SCR/CCP (3);	.	.	.	.	T	0.54447	0.1859	N	0.25426	0.745	0.09310	N	1	B;P;D	0.63880	0.123;0.911;0.993	B;P;D	0.72075	0.172;0.459;0.976	T	0.51624	-0.8682	9	0.09338	T	0.73	.	3.7516	0.08569	0.234:0.0:0.3017:0.4643	.	1233;1233;1683	Q5SR44;P17927;E9PDY4	.;CR1_HUMAN;.	S	1233;1233;1233;1233;783;1683	ENSP00000356019:R1233S;ENSP00000356018:R1233S;ENSP00000356020:R1233S;ENSP00000383744:R1233S;ENSP00000436139:R783S;ENSP00000356016:R1683S	ENSP00000356016:R1683S	R	+	3	2	CR1	205820320	0.014000	0.17966	0.003000	0.11579	0.394000	0.30568	-0.172000	0.09868	-0.413000	0.07507	-0.256000	0.11100	AGA		PASS	0.562	CR1-012	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382527.1	NM_000573		91	172	91	172	---	---	---	---
LAMB3	3914	broad.mit.edu	37	1	209799241	209799241	+	Silent	SNP	C	C	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr1:209799241C>A	ENST00000356082.4	-	14	1862	c.1728G>T	c.(1726-1728)ccG>ccT	p.P576P	MIR4260_ENST00000583107.1_RNA|LAMB3_ENST00000391911.1_Silent_p.P576P|LAMB3_ENST00000367030.3_Silent_p.P576P	NM_000228.2	NP_000219.2	Q13751	LAMB3_HUMAN	laminin, beta 3	576	Laminin EGF-like 6. {ECO:0000255|PROSITE- ProRule:PRU00460}.				brown fat cell differentiation (GO:0050873)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|endodermal cell differentiation (GO:0035987)|epidermis development (GO:0008544)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	extracellular region (GO:0005576)|laminin-5 complex (GO:0005610)	structural molecule activity (GO:0005198)	p.P576P(1)		NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(11)|lung(13)|ovary(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45				OV - Ovarian serous cystadenocarcinoma(81;0.0519)		CCACGCACACCGGGTAGCGAT	0.677																																						uc001hhg.2																			1	Substitution - coding silent(1)		lung(1)	central_nervous_system(2)|skin(2)|large_intestine(1)|ovary(1)	6						c.(1726-1728)CCG>CCT		laminin, beta 3 precursor							30.0	31.0	31.0					1																	209799241		2202	4300	6502	SO:0001819	synonymous_variant	3914				cell adhesion|epidermis development|hemidesmosome assembly		structural molecule activity	g.chr1:209799241C>A	D37766	CCDS1487.1	1q32	2013-03-01	2002-08-29		ENSG00000196878	ENSG00000196878		"""Laminins"""	6490	protein-coding gene	gene with protein product		150310	"""laminin, beta 3 (nicein (125kD), kalinin (140kD), BM600 (125kD))"""	LAMNB1		8088808, 7774918	Standard	NM_001127641		Approved	nicein-125kDa, kalinin-140kDa, BM600-125kDa	uc001hhh.3	Q13751	OTTHUMG00000036360	ENST00000356082.4:c.1728G>T	1.37:g.209799241C>A						LAMB3_uc009xco.2_Silent_p.P576P|LAMB3_uc001hhh.2_Silent_p.P576P|LAMB3_uc010psl.1_Intron|hsa-mir-4260|MI0015859_5'Flank	p.P576P	NM_001017402	NP_001017402	Q13751	LAMB3_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0519)	13	2118	-			576			Laminin EGF-like 6.		D3DT88|O14947|Q14733|Q9UJK4|Q9UJL1	Silent	SNP	ENST00000356082.4	37	c.1728G>T	CCDS1487.1																																																																																				PASS	0.677	LAMB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088525.2	NM_000228		16	19	16	19	---	---	---	---
TRAF3IP3	80342	broad.mit.edu	37	1	209933636	209933636	+	Silent	SNP	C	C	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr1:209933636C>A	ENST00000367024.1	+	3	768	c.252C>A	c.(250-252)gcC>gcA	p.A84A	TRAF3IP3_ENST00000367026.3_Silent_p.A84A|TRAF3IP3_ENST00000010338.4_Silent_p.A84A|TRAF3IP3_ENST00000400959.3_Silent_p.A84A|TRAF3IP3_ENST00000367025.3_Silent_p.A84A			Q9Y228	T3JAM_HUMAN	TRAF3 interacting protein 3	84						integral component of membrane (GO:0016021)		p.A84A(1)		breast(2)|endometrium(1)|large_intestine(8)|lung(15)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	32				OV - Ovarian serous cystadenocarcinoma(81;0.045)		ATCCCCAGGCCAGGGAGCAAG	0.602																																						uc001hho.2																			1	Substitution - coding silent(1)		lung(1)	large_intestine(1)|ovary(1)	2						c.(250-252)GCC>GCA		TRAF3-interacting JNK-activating modulator							30.0	32.0	31.0					1																	209933636		2203	4300	6503	SO:0001819	synonymous_variant	80342					integral to membrane	protein binding	g.chr1:209933636C>A		CCDS1490.1, CCDS1490.2, CCDS73023.1	1q32.3-q41	2008-02-05			ENSG00000009790	ENSG00000009790			30766	protein-coding gene	gene with protein product	"""TRAF3 interacting Jun N terminal kinase (JNK) activating modulator"""	608255				14572659	Standard	XR_247044		Approved	T3JAM	uc001hho.3	Q9Y228	OTTHUMG00000036480	ENST00000367024.1:c.252C>A	1.37:g.209933636C>A						TRAF3IP3_uc001hhl.2_Silent_p.A84A|TRAF3IP3_uc001hhm.1_Silent_p.A84A|TRAF3IP3_uc001hhn.2_Silent_p.A84A|TRAF3IP3_uc009xcr.2_Silent_p.A84A	p.A84A	NM_025228	NP_079504	Q9Y228	T3JAM_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.045)	3	542	+			84			Cytoplasmic (Potential).		A1L464|A6NIU9|Q2YDB5|Q4VY06|Q7Z706	Silent	SNP	ENST00000367024.1	37	c.252C>A	CCDS1490.2																																																																																				PASS	0.602	TRAF3IP3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088734.2			18	39	18	39	---	---	---	---
IRF6	3664	broad.mit.edu	37	1	209965773	209965773	+	Splice_Site	SNP	C	C	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr1:209965773C>A	ENST00000367021.3	-	6	681		c.e6-1		IRF6_ENST00000542854.1_Splice_Site	NM_006147.3	NP_006138.1	O14896	IRF6_HUMAN	interferon regulatory factor 6						cell cycle arrest (GO:0007050)|cell development (GO:0048468)|cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma-mediated signaling pathway (GO:0060333)|keratinocyte differentiation (GO:0030216)|keratinocyte proliferation (GO:0043616)|mammary gland epithelial cell differentiation (GO:0060644)|negative regulation of cell proliferation (GO:0008285)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	DNA binding (GO:0003677)|regulatory region DNA binding (GO:0000975)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.?(2)		cervix(1)|large_intestine(4)|lung(12)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	28				OV - Ovarian serous cystadenocarcinoma(81;0.0351)		ATGGGAGAACCTAAAACAAAA	0.537										HNSCC(57;0.16)																												uc001hhq.1																			2	Unknown(2)		lung(2)	ovary(2)	2						c.e6-1		interferon regulatory factor 6							60.0	54.0	56.0					1																	209965773		2203	4300	6503	SO:0001630	splice_region_variant	3664				cell cycle arrest|interferon-gamma-mediated signaling pathway|mammary gland epithelial cell differentiation|negative regulation of cell proliferation|positive regulation of transcription, DNA-dependent|type I interferon-mediated signaling pathway	cytoplasm|nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr1:209965773C>A	AL022398	CCDS1492.1, CCDS55681.1	1q32.2-q32.3	2011-02-10			ENSG00000117595	ENSG00000117595			6121	protein-coding gene	gene with protein product		607199	"""Van der Woude syndrome"""	VWS, LPS		12219090	Standard	NM_006147		Approved	OFC6, VWS1	uc001hhq.2	O14896	OTTHUMG00000036521	ENST00000367021.3:c.509-1G>T	1.37:g.209965773C>A		HNSCC(57;0.16)				IRF6_uc010psm.1_Splice_Site_p.G75_splice|IRF6_uc009xct.1_Splice_Site_p.G170_splice	p.G170_splice	NM_006147	NP_006138	O14896	IRF6_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0351)	6	772	-								B4DLE2|D3DT90|F5GWX8|G0ZTL0	Splice_Site	SNP	ENST00000367021.3	37	c.509_splice	CCDS1492.1	.	.	.	.	.	.	.	.	.	.	C	20.1	3.940968	0.73557	.	.	ENSG00000117595	ENST00000367021;ENST00000542854;ENST00000456314	.	.	.	5.64	5.64	0.86602	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.7069	0.96076	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	IRF6	208032396	1.000000	0.71417	1.000000	0.80357	0.866000	0.49608	6.218000	0.72224	2.654000	0.90174	0.563000	0.77884	.		PASS	0.537	IRF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088827.1	NM_006147	Intron	21	44	21	44	---	---	---	---
SYT14	255928	broad.mit.edu	37	1	210334354	210334354	+	Silent	SNP	A	A	G			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr1:210334354A>G	ENST00000472886.1	+	8	1649	c.1635A>G	c.(1633-1635)caA>caG	p.Q545Q	SYT14_ENST00000399639.2_3'UTR|SYT14_ENST00000422431.1_Silent_p.Q609Q|SYT14_ENST00000271745.7_3'UTR|SYT14_ENST00000537238.1_Silent_p.Q507Q|SYT14_ENST00000367019.1_Silent_p.Q564Q|SYT14_ENST00000534859.1_Silent_p.Q571Q|SYT14_ENST00000367015.1_Silent_p.Q507Q			Q8NB59	SYT14_HUMAN	synaptotagmin XIV	545					cell death (GO:0008219)	integral component of membrane (GO:0016021)	phospholipid binding (GO:0005543)	p.Q545Q(1)		endometrium(4)|large_intestine(11)|lung(17)|ovary(1)|prostate(1)|skin(3)	37				OV - Ovarian serous cystadenocarcinoma(81;0.085)		AAGGACAGCAAGTATGTAGAT	0.388																																						uc009xcv.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|skin(1)	2						c.(1633-1635)CAA>CAG		synaptotagmin XIV isoform 4							107.0	104.0	105.0					1																	210334354		2203	4299	6502	SO:0001819	synonymous_variant	255928					integral to membrane		g.chr1:210334354A>G	AK091517	CCDS31014.1, CCDS53470.1, CCDS58058.1	1q32.2	2013-01-21			ENSG00000143469	ENSG00000143469		"""Synaptotagmins"""	23143	protein-coding gene	gene with protein product		610949					Standard	NM_001256006		Approved	sytXIV, FLJ34198	uc001hhs.5	Q8NB59	OTTHUMG00000036652	ENST00000472886.1:c.1635A>G	1.37:g.210334354A>G						SYT14_uc001hhs.3_Silent_p.Q609Q|SYT14_uc001hht.3_Silent_p.Q564Q|SYT14_uc001hhu.3_RNA|SYT14_uc010psn.1_Silent_p.Q590Q|SYT14_uc010pso.1_Silent_p.Q507Q|SYT14_uc010psp.1_Silent_p.Q83Q	p.Q545Q	NM_153262	NP_694994	Q8NB59	SYT14_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.085)	8	1707	+			545			Cytoplasmic (Potential).		B1AJU0|B1AJU1|F5H426|Q5THX7|Q707N3|Q707N4|Q707N5|Q707N6|Q707N7	Silent	SNP	ENST00000472886.1	37	c.1635A>G	CCDS31014.1																																																																																				PASS	0.388	SYT14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089124.1	NM_153262		51	111	51	111	---	---	---	---
KCNH1	3756	broad.mit.edu	37	1	210948806	210948806	+	Missense_Mutation	SNP	A	A	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr1:210948806A>T	ENST00000271751.4	-	10	2023	c.1996T>A	c.(1996-1998)Tac>Aac	p.Y666N	KCNH1_ENST00000367007.4_Missense_Mutation_p.Y639N			O95259	KCNH1_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 1	666					myoblast fusion (GO:0007520)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	nucleus (GO:0005634)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|phosphorelay sensor kinase activity (GO:0000155)	p.Y666N(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(13)|lung(35)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	68				OV - Ovarian serous cystadenocarcinoma(81;0.0109)|all cancers(67;0.141)|Epithelial(68;0.185)		AGATCACAGTAGGTCAAGGCC	0.517																																						uc001hib.2																			1	Substitution - Missense(1)		lung(1)	ovary(4)|central_nervous_system(1)	5						c.(1996-1998)TAC>AAC		potassium voltage-gated channel, subfamily H,							143.0	114.0	124.0					1																	210948806		2203	4300	6503	SO:0001583	missense	3756				myoblast fusion|regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	calmodulin binding|delayed rectifier potassium channel activity|two-component sensor activity	g.chr1:210948806A>T	AJ001366	CCDS1496.1, CCDS31015.1	1q32.2	2012-07-05			ENSG00000143473	ENSG00000143473		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6250	protein-coding gene	gene with protein product		603305				9738473, 16382104	Standard	NM_172362		Approved	Kv10.1, eag, h-eag, eag1	uc001hib.2	O95259	OTTHUMG00000036309	ENST00000271751.4:c.1996T>A	1.37:g.210948806A>T	ENSP00000271751:p.Tyr666Asn					KCNH1_uc001hic.2_Missense_Mutation_p.Y639N	p.Y666N	NM_172362	NP_758872	O95259	KCNH1_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0109)|all cancers(67;0.141)|Epithelial(68;0.185)	10	2166	-			666			Cytoplasmic (Potential).|cNMP.		B1AQ26|O76035|Q14CL3	Missense_Mutation	SNP	ENST00000271751.4	37	c.1996T>A	CCDS1496.1	.	.	.	.	.	.	.	.	.	.	A	21.0	4.087172	0.76642	.	.	ENSG00000143473	ENST00000271751;ENST00000367007	D;D	0.92299	-3.01;-3.01	5.47	5.47	0.80525	Cyclic nucleotide-binding-like (1);RmlC-like jelly roll fold (1);Cyclic nucleotide-binding domain (3);	0.000000	0.85682	D	0.000000	D	0.96024	0.8705	M	0.79805	2.47	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	D	0.96592	0.9438	10	0.87932	D	0	.	15.5608	0.76244	1.0:0.0:0.0:0.0	.	639;666	Q14CL3;O95259	.;KCNH1_HUMAN	N	666;639	ENSP00000271751:Y666N;ENSP00000355974:Y639N	ENSP00000271751:Y666N	Y	-	1	0	KCNH1	209015429	1.000000	0.71417	1.000000	0.80357	0.619000	0.37552	8.999000	0.93557	2.076000	0.62316	0.459000	0.35465	TAC		PASS	0.517	KCNH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088332.1	NM_002238		50	94	50	94	---	---	---	---
FAM71A	149647	broad.mit.edu	37	1	212799154	212799154	+	Missense_Mutation	SNP	T	T	C			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr1:212799154T>C	ENST00000294829.3	+	1	1366	c.935T>C	c.(934-936)aTa>aCa	p.I312T	RP11-338C15.5_ENST00000427949.1_RNA	NM_153606.3	NP_705834.2	Q8IYT1	FA71A_HUMAN	family with sequence similarity 71, member A	312	Ala-rich.					nucleus (GO:0005634)		p.I312T(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(7)|liver(1)|lung(12)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				OV - Ovarian serous cystadenocarcinoma(81;0.00631)|all cancers(67;0.00981)|GBM - Glioblastoma multiforme(131;0.0715)|Epithelial(68;0.094)		AGCGCAGCCATAGCTGGGGCG	0.637																																						uc001hjk.2																			1	Substitution - Missense(1)		lung(1)	skin(3)|ovary(1)|central_nervous_system(1)	5						c.(934-936)ATA>ACA		hypothetical protein LOC149647							27.0	31.0	30.0					1																	212799154		2203	4298	6501	SO:0001583	missense	149647							g.chr1:212799154T>C		CCDS1507.1	1q32.3	2008-02-05			ENSG00000162771	ENSG00000162771			26541	protein-coding gene	gene with protein product						12477932	Standard	NM_153606		Approved	FLJ32796	uc010pth.1	Q8IYT1	OTTHUMG00000041084	ENST00000294829.3:c.935T>C	1.37:g.212799154T>C	ENSP00000294829:p.Ile312Thr					uc010pth.1_RNA	p.I312T	NM_153606	NP_705834	Q8IYT1	FA71A_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.00631)|all cancers(67;0.00981)|GBM - Glioblastoma multiforme(131;0.0715)|Epithelial(68;0.094)	1	1339	+			312			Ala-rich.		Q5VTZ1	Missense_Mutation	SNP	ENST00000294829.3	37	c.935T>C	CCDS1507.1	.	.	.	.	.	.	.	.	.	.	T	4.571	0.106078	0.08780	.	.	ENSG00000162771	ENST00000294829;ENST00000545975	T	0.03745	3.82	4.01	-5.08	0.02929	.	.	.	.	.	T	0.02012	0.0063	N	0.16903	0.455	0.09310	N	1	B	0.12013	0.005	B	0.12156	0.007	T	0.48186	-0.9057	9	0.18276	T	0.48	-0.2332	6.156	0.20338	0.151:0.4958:0.0:0.3532	.	312	Q8IYT1	FA71A_HUMAN	T	312;87	ENSP00000294829:I312T	ENSP00000294829:I312T	I	+	2	0	FAM71A	210865777	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.870000	0.04228	-1.230000	0.02561	-0.250000	0.11733	ATA		PASS	0.637	FAM71A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098529.1	NM_153606		14	30	14	30	---	---	---	---
PTPN14	5784	broad.mit.edu	37	1	214556843	214556843	+	Silent	SNP	T	T	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr1:214556843T>A	ENST00000366956.5	-	13	2549	c.2355A>T	c.(2353-2355)ccA>ccT	p.P785P	PTPN14_ENST00000543945.1_3'UTR	NM_005401.4	NP_005392.2	Q15678	PTN14_HUMAN	protein tyrosine phosphatase, non-receptor type 14	785					lymphangiogenesis (GO:0001946)|negative regulation of cell proliferation (GO:0008285)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|regulation of protein export from nucleus (GO:0046825)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	protein tyrosine phosphatase activity (GO:0004725)|receptor tyrosine kinase binding (GO:0030971)|transcription cofactor activity (GO:0003712)	p.P785P(1)		NS(2)|breast(3)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(9)|liver(3)|lung(21)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	58				OV - Ovarian serous cystadenocarcinoma(81;0.00181)|all cancers(67;0.00194)|Epithelial(68;0.0157)|GBM - Glioblastoma multiforme(131;0.155)		TGGCCTTGGCTGGCCCATGCC	0.647																																					Colon(92;557 1424 24372 34121 40073)	uc001hkk.1																			1	Substitution - coding silent(1)		lung(1)	breast(2)|ovary(1)|kidney(1)|skin(1)	5						c.(2353-2355)CCA>CCT		protein tyrosine phosphatase, non-receptor type							44.0	45.0	45.0					1																	214556843		2203	4300	6503	SO:0001819	synonymous_variant	5784				lymphangiogenesis	cytoplasm|cytoskeleton	protein tyrosine phosphatase activity|receptor tyrosine kinase binding	g.chr1:214556843T>A	X82676	CCDS1514.1	1q32.2	2011-06-09			ENSG00000152104	ENSG00000152104		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"""	9647	protein-coding gene	gene with protein product		603155				7733990	Standard	NM_005401		Approved	PEZ	uc001hkk.2	Q15678	OTTHUMG00000037039	ENST00000366956.5:c.2355A>T	1.37:g.214556843T>A						PTPN14_uc010pty.1_Silent_p.P686P	p.P785P	NM_005401	NP_005392	Q15678	PTN14_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.00181)|all cancers(67;0.00194)|Epithelial(68;0.0157)|GBM - Glioblastoma multiforme(131;0.155)	13	2626	-			785					Q5VSI0	Silent	SNP	ENST00000366956.5	37	c.2355A>T	CCDS1514.1																																																																																				PASS	0.647	PTPN14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089918.2	NM_005401		45	60	45	60	---	---	---	---
USH2A	7399	broad.mit.edu	37	1	215844504	215844505	+	Missense_Mutation	DNP	CC	CC	AG			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr1:215844504_215844505CC>AG	ENST00000307340.3	-	64	14328_14329	c.13942_13943GG>CT	c.(13942-13944)GGa>CTa	p.G4648L	USH2A_ENST00000366943.2_Missense_Mutation_p.G4648L	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	4648	Fibronectin type-III 32. {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.G4648R(1)|p.G4648L(1)|p.G4648V(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)		TGGCTGGAATCCTCCTGGAGCC	0.47										HNSCC(13;0.011)																												uc001hku.1																			3	Substitution - Missense(3)		lung(3)	ovary(20)|upper_aerodigestive_tract(2)|skin(2)|kidney(1)|central_nervous_system(1)	26						c.(13942-13944)GGA>GTA|c.(13942-13944)GGA>CGA		usherin isoform B																																				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.chr1:215844504C>A|g.chr1:215844505C>G	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.13942_13943delinsAG	1.37:g.215844504_215844505delinsAG	ENSP00000305941:p.Gly4648Leu	HNSCC(13;0.011)					p.G4648V|p.G4648R	NM_206933	NP_996816	O75445	USH2A_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)	64	14330|14329	-			4648			Fibronectin type-III 32.|Extracellular (Potential).		Q5VVM9|Q6S362|Q9NS27	Missense_Mutation	SNP	ENST00000307340.3	37	c.13943G>T|c.13942G>C	CCDS31025.1																																																																																				PASS	0.470	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128138.1	NM_007123		78|80	173|172	78	172	---	---	---	---
USH2A	7399	broad.mit.edu	37	1	215847647	215847647	+	Missense_Mutation	SNP	C	C	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr1:215847647C>T	ENST00000307340.3	-	63	13992	c.13606G>A	c.(13606-13608)Gaa>Aaa	p.E4536K	USH2A_ENST00000366943.2_Missense_Mutation_p.E4536K	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	4536	Fibronectin type-III 31. {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.E4536K(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)		TTTGGAGGTTCCATCCCTGAG	0.493										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.(13606-13608)GAA>AAA		usherin isoform B							92.0	93.0	93.0					1																	215847647		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.chr1:215847647C>T	AF055580	CCDS1516.1, CCDS31025.1	1q41	2013-02-11			ENSG00000042781	ENSG00000042781		"""Fibronectin type III domain containing"""	12601	protein-coding gene	gene with protein product	"""usherin"""	608400		USH2		9624053, 10729113	Standard	NM_007123		Approved	RP39	uc001hku.1	O75445	OTTHUMG00000037079	ENST00000307340.3:c.13606G>A	1.37:g.215847647C>T	ENSP00000305941:p.Glu4536Lys	HNSCC(13;0.011)					p.E4536K	NM_206933	NP_996816	O75445	USH2A_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)	63	13993	-			4536			Fibronectin type-III 31.|Extracellular (Potential).		Q5VVM9|Q6S362|Q9NS27	Missense_Mutation	SNP	ENST00000307340.3	37	c.13606G>A	CCDS31025.1	.	.	.	.	.	.	.	.	.	.	C	3.348	-0.133074	0.06711	.	.	ENSG00000042781	ENST00000307340;ENST00000366943	T;T	0.53640	0.61;0.61	4.29	-0.101	0.13618	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.975835	0.08320	U	0.964063	T	0.31734	0.0806	L	0.48362	1.52	0.09310	N	1	P	0.34462	0.454	B	0.31016	0.123	T	0.17471	-1.0368	10	0.15499	T	0.54	.	2.6797	0.05090	0.1688:0.3681:0.3116:0.1515	.	4536	O75445	USH2A_HUMAN	K	4536	ENSP00000305941:E4536K;ENSP00000355910:E4536K	ENSP00000305941:E4536K	E	-	1	0	USH2A	213914270	0.082000	0.21442	0.035000	0.18076	0.902000	0.53008	0.671000	0.25172	-0.232000	0.09811	0.467000	0.42956	GAA		PASS	0.493	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128138.1	NM_007123		72	163	72	163	---	---	---	---
USH2A	7399	broad.mit.edu	37	1	215847895	215847895	+	Missense_Mutation	SNP	T	T	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr1:215847895T>A	ENST00000307340.3	-	63	13744	c.13358A>T	c.(13357-13359)cAa>cTa	p.Q4453L	USH2A_ENST00000366943.2_Missense_Mutation_p.Q4453L	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	4453	Fibronectin type-III 30. {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.Q4453L(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)		GCCTGTGACTTGCAATGTTGG	0.478										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.(13357-13359)CAA>CTA		usherin isoform B							97.0	97.0	97.0					1																	215847895		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.chr1:215847895T>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.13358A>T	1.37:g.215847895T>A	ENSP00000305941:p.Gln4453Leu	HNSCC(13;0.011)					p.Q4453L	NM_206933	NP_996816	O75445	USH2A_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)	63	13745	-			4453			Fibronectin type-III 30.|Extracellular (Potential).		Q5VVM9|Q6S362|Q9NS27	Missense_Mutation	SNP	ENST00000307340.3	37	c.13358A>T	CCDS31025.1	.	.	.	.	.	.	.	.	.	.	T	4.631	0.117340	0.08881	.	.	ENSG00000042781	ENST00000307340;ENST00000366943	T;T	0.56275	0.47;0.47	4.41	3.23	0.37069	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.458194	0.16704	U	0.202982	T	0.36082	0.0954	N	0.26042	0.785	0.24804	N	0.992687	B	0.09022	0.002	B	0.14578	0.011	T	0.19484	-1.0304	10	0.22109	T	0.4	.	8.9338	0.35686	0.3666:0.0:0.0:0.6334	.	4453	O75445	USH2A_HUMAN	L	4453	ENSP00000305941:Q4453L;ENSP00000355910:Q4453L	ENSP00000305941:Q4453L	Q	-	2	0	USH2A	213914518	1.000000	0.71417	0.996000	0.52242	0.929000	0.56500	4.053000	0.57427	0.617000	0.30160	0.383000	0.25322	CAA		PASS	0.478	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128138.1	NM_007123		41	116	41	116	---	---	---	---
USH2A	7399	broad.mit.edu	37	1	215848719	215848719	+	Silent	SNP	A	A	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr1:215848719A>T	ENST00000307340.3	-	63	12920	c.12534T>A	c.(12532-12534)ccT>ccA	p.P4178P	USH2A_ENST00000366943.2_Silent_p.P4178P	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	4178	Fibronectin type-III 27. {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.P4178P(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)		TTGGGTTAACAGGCTCAGACC	0.502										HNSCC(13;0.011)																												uc001hku.1																			1	Substitution - coding silent(1)		lung(1)	ovary(20)|upper_aerodigestive_tract(2)|skin(2)|kidney(1)|central_nervous_system(1)	26						c.(12532-12534)CCT>CCA		usherin isoform B							90.0	90.0	90.0					1																	215848719		2203	4300	6503	SO:0001819	synonymous_variant	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.chr1:215848719A>T	AF055580	CCDS1516.1, CCDS31025.1	1q41	2013-02-11			ENSG00000042781	ENSG00000042781		"""Fibronectin type III domain containing"""	12601	protein-coding gene	gene with protein product	"""usherin"""	608400		USH2		9624053, 10729113	Standard	NM_007123		Approved	RP39	uc001hku.1	O75445	OTTHUMG00000037079	ENST00000307340.3:c.12534T>A	1.37:g.215848719A>T		HNSCC(13;0.011)					p.P4178P	NM_206933	NP_996816	O75445	USH2A_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)	63	12921	-			4178			Extracellular (Potential).|Fibronectin type-III 27.		Q5VVM9|Q6S362|Q9NS27	Silent	SNP	ENST00000307340.3	37	c.12534T>A	CCDS31025.1																																																																																				PASS	0.502	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128138.1	NM_007123		56	113	56	113	---	---	---	---
USH2A	7399	broad.mit.edu	37	1	215953204	215953204	+	Missense_Mutation	SNP	C	C	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr1:215953204C>A	ENST00000307340.3	-	55	11306	c.10920G>T	c.(10918-10920)agG>agT	p.R3640S	USH2A_ENST00000366943.2_Missense_Mutation_p.R3640S	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	3640	Fibronectin type-III 21. {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.R3640S(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)		TATGCTGTCTCCTGTCAGTGG	0.493										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.(10918-10920)AGG>AGT		usherin isoform B							171.0	141.0	151.0					1																	215953204		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.chr1:215953204C>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.10920G>T	1.37:g.215953204C>A	ENSP00000305941:p.Arg3640Ser	HNSCC(13;0.011)					p.R3640S	NM_206933	NP_996816	O75445	USH2A_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)	55	11307	-			3640			Extracellular (Potential).|Fibronectin type-III 21.		Q5VVM9|Q6S362|Q9NS27	Missense_Mutation	SNP	ENST00000307340.3	37	c.10920G>T	CCDS31025.1	.	.	.	.	.	.	.	.	.	.	C	8.881	0.951649	0.18431	.	.	ENSG00000042781	ENST00000307340;ENST00000366943	T;T	0.58210	0.35;0.35	5.9	4.02	0.46733	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.133260	0.33650	N	0.004682	T	0.33614	0.0869	N	0.24115	0.695	0.31827	N	0.625227	P	0.43231	0.801	B	0.41374	0.355	T	0.32508	-0.9904	10	0.09084	T	0.74	.	8.5047	0.33179	0.0:0.7238:0.129:0.1472	.	3640	O75445	USH2A_HUMAN	S	3640	ENSP00000305941:R3640S;ENSP00000355910:R3640S	ENSP00000305941:R3640S	R	-	3	2	USH2A	214019827	0.952000	0.32445	1.000000	0.80357	0.998000	0.95712	1.010000	0.29898	0.817000	0.34445	0.650000	0.86243	AGG		PASS	0.493	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128138.1	NM_007123		51	92	51	92	---	---	---	---
USH2A	7399	broad.mit.edu	37	1	216144085	216144085	+	Missense_Mutation	SNP	C	C	G	rs200437181		TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr1:216144085C>G	ENST00000307340.3	-	36	7225	c.6839G>C	c.(6838-6840)gGt>gCt	p.G2280A	USH2A_ENST00000366943.2_Missense_Mutation_p.G2280A	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	2280	Fibronectin type-III 9. {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.G2280A(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)		GATTAATATACCATCTAGATA	0.398										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.(6838-6840)GGT>GCT		usherin isoform B							107.0	104.0	105.0					1																	216144085		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.chr1:216144085C>G	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.6839G>C	1.37:g.216144085C>G	ENSP00000305941:p.Gly2280Ala	HNSCC(13;0.011)					p.G2280A	NM_206933	NP_996816	O75445	USH2A_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)	36	7226	-			2280			Fibronectin type-III 9.|Extracellular (Potential).		Q5VVM9|Q6S362|Q9NS27	Missense_Mutation	SNP	ENST00000307340.3	37	c.6839G>C	CCDS31025.1	.	.	.	.	.	.	.	.	.	.	C	13.13	2.144913	0.37825	.	.	ENSG00000042781	ENST00000307340;ENST00000366943	T;T	0.54866	0.55;0.55	5.72	2.83	0.33086	Fibronectin, type III (3);Immunoglobulin-like fold (1);	0.154150	0.29830	N	0.011092	T	0.60183	0.2249	M	0.85099	2.735	0.40294	D	0.978531	P	0.52316	0.952	P	0.46885	0.53	T	0.63363	-0.6654	10	0.41790	T	0.15	.	11.336	0.49505	0.0:0.8031:0.0:0.1969	.	2280	O75445	USH2A_HUMAN	A	2280	ENSP00000305941:G2280A;ENSP00000355910:G2280A	ENSP00000305941:G2280A	G	-	2	0	USH2A	214210708	0.857000	0.29778	0.365000	0.25901	0.423000	0.31445	1.570000	0.36439	0.345000	0.23873	0.591000	0.81541	GGT		PASS	0.398	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128138.1	NM_007123		50	152	50	152	---	---	---	---
ESRRG	2104	broad.mit.edu	37	1	216737693	216737693	+	Missense_Mutation	SNP	C	C	G			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr1:216737693C>G	ENST00000408911.3	-	5	883	c.730G>C	c.(730-732)Gct>Cct	p.A244P	ESRRG_ENST00000361525.3_Missense_Mutation_p.A221P|ESRRG_ENST00000359162.2_Missense_Mutation_p.A221P|ESRRG_ENST00000493603.1_Missense_Mutation_p.A221P|ESRRG_ENST00000391890.3_Missense_Mutation_p.A228P|ESRRG_ENST00000366938.2_Missense_Mutation_p.A221P|ESRRG_ENST00000493748.1_Missense_Mutation_p.A221P|ESRRG_ENST00000360012.3_Missense_Mutation_p.A221P|ESRRG_ENST00000361395.2_Missense_Mutation_p.A221P|ESRRG_ENST00000463665.1_Missense_Mutation_p.A182P|ESRRG_ENST00000487276.1_Missense_Mutation_p.A221P|ESRRG_ENST00000366937.1_Missense_Mutation_p.A256P|ESRRG_ENST00000366940.2_Missense_Mutation_p.A221P	NM_001438.3	NP_001429.2	P62508	ERR3_HUMAN	estrogen-related receptor gamma	244					gene expression (GO:0010467)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nucleoplasm (GO:0005654)	AF-2 domain binding (GO:0050682)|retinoic acid receptor activity (GO:0003708)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|steroid binding (GO:0005496)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)	p.A244P(1)		endometrium(5)|kidney(1)|large_intestine(8)|liver(1)|lung(29)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	49				OV - Ovarian serous cystadenocarcinoma(81;0.0358)|all cancers(67;0.0693)|GBM - Glioblastoma multiforme(131;0.0713)	Diethylstilbestrol(DB00255)	TCCGGTTCAGCCACCAACAAA	0.478																																						uc001hkw.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|kidney(1)	2						c.(730-732)GCT>CCT		estrogen-related receptor gamma isoform 1	Diethylstilbestrol(DB00255)						163.0	137.0	146.0					1																	216737693		2203	4300	6503	SO:0001583	missense	2104				positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	AF-2 domain binding|retinoic acid receptor activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding	g.chr1:216737693C>G	AF058291	CCDS1517.1, CCDS41468.1, CCDS58060.1, CCDS58061.1	1q41	2014-02-18			ENSG00000196482	ENSG00000196482		"""Nuclear hormone receptors"""	3474	protein-coding gene	gene with protein product		602969				9676434, 10072763	Standard	NM_001243505		Approved	NR3B3	uc001hkw.2	P62508	OTTHUMG00000037025	ENST00000408911.3:c.730G>C	1.37:g.216737693C>G	ENSP00000386171:p.Ala244Pro					ESRRG_uc001hky.1_Missense_Mutation_p.A221P|ESRRG_uc009xdp.1_Missense_Mutation_p.A221P|ESRRG_uc001hkz.1_Missense_Mutation_p.A182P|ESRRG_uc010puc.1_Missense_Mutation_p.A221P|ESRRG_uc001hla.1_Missense_Mutation_p.A221P|ESRRG_uc001hlb.1_Missense_Mutation_p.A221P|ESRRG_uc010pud.1_Missense_Mutation_p.A52P|ESRRG_uc001hlc.1_Missense_Mutation_p.A221P|ESRRG_uc001hld.1_Missense_Mutation_p.A221P|ESRRG_uc001hkx.1_Missense_Mutation_p.A256P|ESRRG_uc009xdo.1_Missense_Mutation_p.A221P|ESRRG_uc001hle.1_Missense_Mutation_p.A221P	p.A244P	NM_001438	NP_001429	P62508	ERR3_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0358)|all cancers(67;0.0693)|GBM - Glioblastoma multiforme(131;0.0713)	5	896	-			244					A8K4I0|A8K6I2|B3KY84|E9PGB7|F8W8J3|O75454|O96021|Q68DA0|Q6P274|Q6PK28|Q6TS38|Q9R1F3|Q9UNJ4	Missense_Mutation	SNP	ENST00000408911.3	37	c.730G>C	CCDS41468.1	.	.	.	.	.	.	.	.	.	.	C	35	5.442581	0.96187	.	.	ENSG00000196482	ENST00000361525;ENST00000366940;ENST00000366937;ENST00000408911;ENST00000359162;ENST00000361395;ENST00000366938;ENST00000360012;ENST00000493603;ENST00000391890;ENST00000463665;ENST00000487276;ENST00000354407;ENST00000493748;ENST00000475275	D;D;D;D;D;D;D;D;D;D;T;D;D;D	0.99070	-5.39;-5.39;-5.39;-5.39;-5.39;-5.39;-5.39;-5.39;-5.39;-5.39;0.68;-5.39;-5.39;-5.39	5.56	5.56	0.83823	Nuclear hormone receptor, ligand-binding (2);	0.000000	0.85682	D	0.000000	D	0.99339	0.9768	M	0.82323	2.585	0.80722	D	1	D;D;D	0.89917	0.998;1.0;0.999	D;D;D	0.87578	0.939;0.998;0.957	D	0.99418	1.0932	10	0.87932	D	0	.	19.5216	0.95187	0.0:1.0:0.0:0.0	.	182;256;244	E9PGB7;F8W8J3;P62508	.;.;ERR3_HUMAN	P	221;221;256;244;221;221;221;221;221;228;182;221;221;221;221	ENSP00000355225:A221P;ENSP00000355907:A221P;ENSP00000355904:A256P;ENSP00000386171:A244P;ENSP00000352077:A221P;ENSP00000354584:A221P;ENSP00000355905:A221P;ENSP00000353108:A221P;ENSP00000419594:A221P;ENSP00000375761:A228P;ENSP00000418629:A182P;ENSP00000419155:A221P;ENSP00000417374:A221P;ENSP00000419514:A221P	ENSP00000346386:A221P	A	-	1	0	ESRRG	214804316	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.818000	0.86416	2.605000	0.88082	0.655000	0.94253	GCT		PASS	0.478	ESRRG-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000089882.2	NM_206595		33	123	33	123	---	---	---	---
HLX	3142	broad.mit.edu	37	1	221053252	221053252	+	Nonsense_Mutation	SNP	C	C	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr1:221053252C>A	ENST00000366903.6	+	1	1554	c.53C>A	c.(52-54)tCg>tAg	p.S18*	HLA-AS1_ENST00000552026.1_RNA|HLX_ENST00000549319.1_5'Flank	NM_021958.3	NP_068777.1	Q14774	HLX_HUMAN	H2.0-like homeobox	18					cell differentiation (GO:0030154)|embryonic digestive tract morphogenesis (GO:0048557)|enteric nervous system development (GO:0048484)|liver development (GO:0001889)|multicellular organismal development (GO:0007275)|negative regulation of T-helper 2 cell differentiation (GO:0045629)|positive regulation of cell proliferation (GO:0008284)|positive regulation of organ growth (GO:0046622)|positive regulation of T-helper 1 cell differentiation (GO:0045627)|regulation of transcription, DNA-templated (GO:0006355)|skeletal muscle tissue development (GO:0007519)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)	p.S18*(1)		breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(9)|lung(11)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	32				GBM - Glioblastoma multiforme(131;0.00914)		AGCCTCTGGTCGGCCGCTTAC	0.687																																						uc001hmv.3																			1	Substitution - Nonsense(1)	p.S18S(1)	lung(1)	ovary(2)	2						c.(52-54)TCG>TAG		H2.0-like homeobox							7.0	8.0	8.0					1																	221053252		2141	4208	6349	SO:0001587	stop_gained	3142				cell differentiation	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr1:221053252C>A	BC033808	CCDS1527.1	1q41	2011-06-20	2007-07-26	2007-07-26	ENSG00000136630	ENSG00000136630		"""Homeoboxes / ANTP class : NKL subclass"""	4978	protein-coding gene	gene with protein product		142995	"""H2.0 (Drosophila)-like homeo box 1"", ""H2.0-like homeobox 1 (Drosophila)"", ""H2.0-like homeobox 1"""	HLX1		1676597, 7806220	Standard	NM_021958		Approved	HB24	uc001hmv.4	Q14774	OTTHUMG00000037352	ENST00000366903.6:c.53C>A	1.37:g.221053252C>A	ENSP00000355870:p.Ser18*						p.S18*	NM_021958	NP_068777	Q14774	HLX_HUMAN		GBM - Glioblastoma multiforme(131;0.00914)	1	510	+			18					B2R8A8|Q15988|Q59HE7|Q9NZ75	Nonsense_Mutation	SNP	ENST00000366903.6	37	c.53C>A	CCDS1527.1	.	.	.	.	.	.	.	.	.	.	C	51	17.622231	0.99890	.	.	ENSG00000136630	ENST00000366903	.	.	.	5.11	5.11	0.69529	.	0.123529	0.35970	N	0.002863	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-8.9741	18.4873	0.90834	0.0:1.0:0.0:0.0	.	.	.	.	X	18	.	ENSP00000355870:S18X	S	+	2	0	HLX	219119875	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	4.544000	0.60691	2.531000	0.85337	0.555000	0.69702	TCG		PASS	0.687	HLX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090902.3	NM_021958		6	11	6	11	---	---	---	---
DISP1	84976	broad.mit.edu	37	1	223168310	223168310	+	Missense_Mutation	SNP	G	G	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr1:223168310G>T	ENST00000284476.6	+	7	1137	c.973G>T	c.(973-975)Gta>Tta	p.V325L		NM_032890.3	NP_116279.2	Q96F81	DISP1_HUMAN	dispatched homolog 1 (Drosophila)	325					determination of left/right symmetry (GO:0007368)|diaphragm development (GO:0060539)|dorsal/ventral pattern formation (GO:0009953)|embryonic pattern specification (GO:0009880)|patched ligand maturation (GO:0007225)|peptide transport (GO:0015833)|protein homotrimerization (GO:0070207)|regulation of protein secretion (GO:0050708)|smoothened signaling pathway (GO:0007224)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)	hedgehog receptor activity (GO:0008158)|peptide transporter activity (GO:0015197)	p.V325L(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(20)|lung(25)|prostate(4)|skin(1)|stomach(1)|urinary_tract(5)	69				GBM - Glioblastoma multiforme(131;0.102)		AATGTGCAATGTAGATAATTC	0.353																																						uc001hnu.1																			1	Substitution - Missense(1)		lung(1)		0						c.(973-975)GTA>TTA		dispatched A							130.0	141.0	137.0					1																	223168310		2203	4300	6503	SO:0001583	missense	84976				diaphragm development|protein homotrimerization|regulation of protein secretion|smoothened signaling pathway	basolateral plasma membrane|integral to membrane	hedgehog receptor activity|peptide transporter activity	g.chr1:223168310G>T	AK056569	CCDS1536.1	1q42.12	2008-02-05			ENSG00000154309	ENSG00000154309			19711	protein-coding gene	gene with protein product		607502				10619433	Standard	NM_032890		Approved	DISPA, MGC13130, DKFZP434I0428, MGC16796	uc001hnu.2	Q96F81	OTTHUMG00000037893	ENST00000284476.6:c.973G>T	1.37:g.223168310G>T	ENSP00000284476:p.Val325Leu						p.V325L	NM_032890	NP_116279	Q96F81	DISP1_HUMAN		GBM - Glioblastoma multiforme(131;0.102)	7	1120	+			325					Q8N7C2|Q96I92|Q9H698|Q9H8H9|Q9UFA2	Missense_Mutation	SNP	ENST00000284476.6	37	c.973G>T	CCDS1536.1	.	.	.	.	.	.	.	.	.	.	G	7.202	0.593602	0.13875	.	.	ENSG00000154309	ENST00000284476	D	0.90620	-2.7	5.86	-1.48	0.08745	.	0.614642	0.17935	N	0.157054	T	0.65354	0.2683	N	0.00377	-1.585	0.27833	N	0.94138	B	0.06786	0.001	B	0.11329	0.006	T	0.61392	-0.7072	9	.	.	.	-6.9696	11.9496	0.52948	0.5923:0.0:0.4077:0.0	.	325	Q96F81	DISP1_HUMAN	L	325	ENSP00000284476:V325L	.	V	+	1	0	DISP1	221234933	0.933000	0.31639	0.961000	0.40146	0.996000	0.88848	0.068000	0.14531	-0.307000	0.08804	0.563000	0.77884	GTA		PASS	0.353	DISP1-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092512.1	NM_032890		84	194	84	194	---	---	---	---
DISP1	84976	broad.mit.edu	37	1	223176710	223176710	+	Silent	SNP	G	G	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr1:223176710G>A	ENST00000284476.6	+	8	2135	c.1971G>A	c.(1969-1971)gtG>gtA	p.V657V		NM_032890.3	NP_116279.2	Q96F81	DISP1_HUMAN	dispatched homolog 1 (Drosophila)	657	SSD. {ECO:0000255|PROSITE- ProRule:PRU00199}.				determination of left/right symmetry (GO:0007368)|diaphragm development (GO:0060539)|dorsal/ventral pattern formation (GO:0009953)|embryonic pattern specification (GO:0009880)|patched ligand maturation (GO:0007225)|peptide transport (GO:0015833)|protein homotrimerization (GO:0070207)|regulation of protein secretion (GO:0050708)|smoothened signaling pathway (GO:0007224)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)	hedgehog receptor activity (GO:0008158)|peptide transporter activity (GO:0015197)	p.V657V(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(20)|lung(25)|prostate(4)|skin(1)|stomach(1)|urinary_tract(5)	69				GBM - Glioblastoma multiforme(131;0.102)		CAGTTGTTGTGCTGCATGAGC	0.433																																						uc001hnu.1																			1	Substitution - coding silent(1)		lung(1)		0						c.(1969-1971)GTG>GTA		dispatched A							73.0	68.0	70.0					1																	223176710		2203	4300	6503	SO:0001819	synonymous_variant	84976				diaphragm development|protein homotrimerization|regulation of protein secretion|smoothened signaling pathway	basolateral plasma membrane|integral to membrane	hedgehog receptor activity|peptide transporter activity	g.chr1:223176710G>A	AK056569	CCDS1536.1	1q42.12	2008-02-05			ENSG00000154309	ENSG00000154309			19711	protein-coding gene	gene with protein product		607502				10619433	Standard	NM_032890		Approved	DISPA, MGC13130, DKFZP434I0428, MGC16796	uc001hnu.2	Q96F81	OTTHUMG00000037893	ENST00000284476.6:c.1971G>A	1.37:g.223176710G>A							p.V657V	NM_032890	NP_116279	Q96F81	DISP1_HUMAN		GBM - Glioblastoma multiforme(131;0.102)	8	2118	+			657			Helical; (Potential).|SSD.		Q8N7C2|Q96I92|Q9H698|Q9H8H9|Q9UFA2	Silent	SNP	ENST00000284476.6	37	c.1971G>A	CCDS1536.1																																																																																				PASS	0.433	DISP1-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092512.1	NM_032890		71	107	71	107	---	---	---	---
TLR5	7100	broad.mit.edu	37	1	223285332	223285332	+	Silent	SNP	G	G	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr1:223285332G>A	ENST00000540964.1	-	4	1503	c.1042C>T	c.(1042-1044)Ctg>Ttg	p.L348L	TLR5_ENST00000342210.6_Silent_p.L348L			O60602	TLR5_HUMAN	toll-like receptor 5	348					cellular response to lipopolysaccharide (GO:0071222)|cellular response to mechanical stimulus (GO:0071260)|defense response to bacterium (GO:0042742)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|male gonad development (GO:0008584)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of toll-like receptor signaling pathway (GO:0034123)|regulation of cytokine secretion (GO:0050707)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor signaling pathway (GO:0002224)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	interleukin-1 receptor binding (GO:0005149)|transmembrane signaling receptor activity (GO:0004888)	p.L348L(1)		breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	32				GBM - Glioblastoma multiforme(131;0.0851)		AGTTCCCCCAGAAGGTTATAT	0.368																																						uc001hnv.1																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|lung(1)|skin(1)	4						c.(1042-1044)CTG>TTG		toll-like receptor 5 precursor							93.0	93.0	93.0					1																	223285332		2203	4300	6503	SO:0001819	synonymous_variant	7100				cellular response to mechanical stimulus|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|positive regulation of interleukin-8 production|positive regulation of toll-like receptor signaling pathway	integral to membrane|plasma membrane	interleukin-1 receptor binding|transmembrane receptor activity	g.chr1:223285332G>A		CCDS31033.1	1q32.3-q42	2014-01-29			ENSG00000187554	ENSG00000187554			11851	protein-coding gene	gene with protein product	"""Toll/interleukin-1 receptor-like protein 3"""	603031	"""systemic lupus erythematosus susceptibility 1"""	SLEB1		9435236, 16027372	Standard	NM_003268		Approved	TIL3, FLJ10052, MGC126430, MGC126431	uc001hnw.2	O60602	OTTHUMG00000037937	ENST00000540964.1:c.1042C>T	1.37:g.223285332G>A						TLR5_uc001hnw.1_Silent_p.L348L	p.L348L	NM_003268	NP_003259	O60602	TLR5_HUMAN		GBM - Glioblastoma multiforme(131;0.0851)	4	1488	-			348			Extracellular (Potential).|LRR 7.		B1AZ05|B3Y633|B9VJ63|D1CS80|D3DTB8|O15456|Q32MI2|Q32MI3	Silent	SNP	ENST00000540964.1	37	c.1042C>T	CCDS31033.1																																																																																				PASS	0.368	TLR5-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_003268		75	152	75	152	---	---	---	---
LEFTY2	7044	broad.mit.edu	37	1	226125383	226125383	+	Missense_Mutation	SNP	C	C	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr1:226125383C>A	ENST00000366820.5	-	4	1207	c.859G>T	c.(859-861)Ggc>Tgc	p.G287C	LEFTY2_ENST00000420304.2_Missense_Mutation_p.G253C|LEFTY2_ENST00000474493.1_5'Flank|RP4-559A3.6_ENST00000513672.1_RNA	NM_003240.3	NP_003231.2	O00292	LFTY2_HUMAN	left-right determination factor 2	287					blood coagulation (GO:0007596)|cell growth (GO:0016049)|multicellular organismal development (GO:0007275)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|transforming growth factor beta receptor signaling pathway (GO:0007179)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|platelet alpha granule lumen (GO:0031093)		p.G287C(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(8)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	16	Breast(184;0.197)					GCCAGGAAGCCCGGGGGCTCC	0.642																																					Colon(172;116 2643 9098 43333)	uc001hpt.1																			1	Substitution - Missense(1)		lung(1)		0						c.(859-861)GGC>TGC		endometrial bleeding associated factor							21.0	24.0	23.0					1																	226125383		2203	4300	6503	SO:0001583	missense	7044				cell growth|multicellular organismal development|platelet activation|platelet degranulation|transforming growth factor beta receptor signaling pathway	extracellular space|platelet alpha granule lumen	cytokine activity|growth factor activity|transforming growth factor beta receptor binding	g.chr1:226125383C>A	U81523	CCDS1549.1, CCDS53479.1	1q42.1	2008-07-18	2004-11-17	2004-11-17	ENSG00000143768	ENSG00000143768			3122	protein-coding gene	gene with protein product	"""transforming growth factor, beta-4 (endometrial bleeding-associated factor; LEFTY A)"""	601877	"""endometrial bleeding associated factor (left-right determination, factor A; transforming growth factor beta superfamily)"""	TGFB4, EBAF		9153275	Standard	NM_001172425		Approved	LEFTA, LEFTYA	uc001hpt.2	O00292	OTTHUMG00000037441	ENST00000366820.5:c.859G>T	1.37:g.226125383C>A	ENSP00000355785:p.Gly287Cys					LEFTY2_uc010pvk.1_Missense_Mutation_p.G253C|LEFTY2_uc009xek.1_3'UTR	p.G287C	NM_003240	NP_003231	O00292	LFTY2_HUMAN			4	939	-	Breast(184;0.197)		287					B3KNH4|B4E332|E9PDM4|O75611|Q5TE89|Q8NBQ9	Missense_Mutation	SNP	ENST00000366820.5	37	c.859G>T	CCDS1549.1	.	.	.	.	.	.	.	.	.	.	c	18.21	3.572533	0.65765	.	.	ENSG00000143768	ENST00000420304;ENST00000366820	D;D	0.85171	-1.95;-1.95	5.1	5.1	0.69264	Transforming growth factor beta, conserved site (1);Transforming growth factor-beta, C-terminal (3);	0.097599	0.64402	D	0.000001	D	0.93919	0.8054	M	0.90309	3.105	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.94978	0.8123	10	0.87932	D	0	.	18.4701	0.90771	0.0:1.0:0.0:0.0	.	253;287	E9PDM4;O00292	.;LFTY2_HUMAN	C	253;287	ENSP00000388009:G253C;ENSP00000355785:G287C	ENSP00000355785:G287C	G	-	1	0	LEFTY2	224192006	1.000000	0.71417	0.951000	0.38953	0.156000	0.22039	6.956000	0.76013	2.518000	0.84900	0.561000	0.74099	GGC		PASS	0.642	LEFTY2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091152.1	NM_003240		13	31	13	31	---	---	---	---
SDE2	163859	broad.mit.edu	37	1	226173192	226173192	+	Silent	SNP	C	C	G	rs201730097	byFrequency	TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr1:226173192C>G	ENST00000272091.7	-	7	1185	c.1167G>C	c.(1165-1167)gcG>gcC	p.A389A		NM_152608.3	NP_689821.3	Q6IQ49	SDE2_HUMAN	SDE2 telomere maintenance homolog (S. pombe)	389								p.A377A(1)|p.A389A(1)									CAGAGGTGAACGCCAATAAAT	0.428																																						uc001hpu.3																			2	Substitution - coding silent(2)		lung(2)	lung(1)	1						c.(1165-1167)GCG>GCC		hypothetical protein LOC163859							80.0	76.0	77.0					1																	226173192		1884	4098	5982	SO:0001819	synonymous_variant	163859							g.chr1:226173192C>G	BC071563	CCDS41473.1	1q42.12	2012-06-26	2012-06-26	2012-06-26	ENSG00000143751	ENSG00000143751			26643	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 55"""	C1orf55		21333630	Standard	NM_152608		Approved	FLJ35382	uc001hpu.4	Q6IQ49	OTTHUMG00000037504	ENST00000272091.7:c.1167G>C	1.37:g.226173192C>G						C1orf55_uc001hpv.2_Intron	p.A389A	NM_152608	NP_689821	Q6IQ49	CA055_HUMAN			7	1220	-	Breast(184;0.197)		389					A8K4P3|Q5TD36|Q6ZS26|Q8NAG7	Silent	SNP	ENST00000272091.7	37	c.1167G>C	CCDS41473.1																																																																																				PASS	0.428	SDE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091310.1	NM_152608		47	109	47	109	---	---	---	---
SDE2	163859	broad.mit.edu	37	1	226175617	226175617	+	Nonsense_Mutation	SNP	C	C	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr1:226175617C>A	ENST00000272091.7	-	6	1132	c.1114G>T	c.(1114-1116)Gaa>Taa	p.E372*		NM_152608.3	NP_689821.3	Q6IQ49	SDE2_HUMAN	SDE2 telomere maintenance homolog (S. pombe)	372								p.E360*(1)|p.E372*(1)									GGCTGGCTTTCCTGCAGTTTG	0.418																																						uc001hpu.3																			2	Substitution - Nonsense(2)		lung(2)	lung(1)	1						c.(1114-1116)GAA>TAA		hypothetical protein LOC163859							145.0	141.0	143.0					1																	226175617		1948	4150	6098	SO:0001587	stop_gained	163859							g.chr1:226175617C>A	BC071563	CCDS41473.1	1q42.12	2012-06-26	2012-06-26	2012-06-26	ENSG00000143751	ENSG00000143751			26643	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 55"""	C1orf55		21333630	Standard	NM_152608		Approved	FLJ35382	uc001hpu.4	Q6IQ49	OTTHUMG00000037504	ENST00000272091.7:c.1114G>T	1.37:g.226175617C>A	ENSP00000272091:p.Glu372*					C1orf55_uc001hpv.2_Nonsense_Mutation_p.E372*	p.E372*	NM_152608	NP_689821	Q6IQ49	CA055_HUMAN			6	1167	-	Breast(184;0.197)		372					A8K4P3|Q5TD36|Q6ZS26|Q8NAG7	Nonsense_Mutation	SNP	ENST00000272091.7	37	c.1114G>T	CCDS41473.1	.	.	.	.	.	.	.	.	.	.	C	24.6	4.546601	0.86022	.	.	ENSG00000143751	ENST00000272091;ENST00000366818;ENST00000366817	.	.	.	5.94	4.05	0.47172	.	1.376150	0.04014	N	0.298671	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.06757	T	0.87	-0.1965	6.0027	0.19529	0.0:0.672:0.1576:0.1704	.	.	.	.	X	372;360;277	.	ENSP00000272091:E372X	E	-	1	0	C1orf55	224242240	0.010000	0.17322	0.024000	0.17045	0.087000	0.18053	0.735000	0.26115	0.823000	0.34589	0.650000	0.86243	GAA		PASS	0.418	SDE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091310.1	NM_152608		59	115	59	115	---	---	---	---
PARP1	142	broad.mit.edu	37	1	226555963	226555963	+	Silent	SNP	G	G	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr1:226555963G>A	ENST00000366794.5	-	16	2357	c.2214C>T	c.(2212-2214)acC>acT	p.T738T	PARP1_ENST00000490921.1_5'UTR	NM_001618.3	NP_001609.2	P09874	PARP1_HUMAN	poly (ADP-ribose) polymerase 1	738	PARP alpha-helical. {ECO:0000255|PROSITE- ProRule:PRU00398}.				base-excision repair (GO:0006284)|cellular response to insulin stimulus (GO:0032869)|DNA damage response, detection of DNA damage (GO:0042769)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|gene expression (GO:0010467)|macrophage differentiation (GO:0030225)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of SMAD protein import into nucleus (GO:0060391)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription regulatory region DNA binding (GO:2000679)|protein ADP-ribosylation (GO:0006471)|protein autoprocessing (GO:0016540)|protein poly-ADP-ribosylation (GO:0070212)|regulation of growth rate (GO:0040009)|signal transduction involved in regulation of gene expression (GO:0023019)|telomere maintenance (GO:0000723)|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)	membrane (GO:0016020)|nuclear envelope (GO:0005635)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|NAD binding (GO:0051287)|NAD+ ADP-ribosyltransferase activity (GO:0003950)|poly(A) RNA binding (GO:0044822)|protein N-terminus binding (GO:0047485)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)	p.T738T(1)		breast(2)|endometrium(4)|kidney(4)|large_intestine(8)|lung(15)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	44	Breast(184;0.133)			GBM - Glioblastoma multiforme(131;0.0531)		GGGGGATCAGGGTGTAAAAGC	0.567								Poly(ADP-ribose) polymerase (PARP) enzymes that bind to DNA																														uc001hqd.3																			1	Substitution - coding silent(1)		lung(1)	lung(3)|ovary(2)|breast(2)|skin(2)|upper_aerodigestive_tract(1)	10						c.(2212-2214)ACC>ACT	Direct_reversal_of_damage|PARP_enzymes_that_bind_to_DNA	poly (ADP-ribose) polymerase family, member 1							79.0	76.0	77.0					1																	226555963		2203	4300	6503	SO:0001819	synonymous_variant	142				cellular response to insulin stimulus|protein ADP-ribosylation|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nuclear envelope|nucleolus|transcription factor complex	DNA binding|identical protein binding|NAD+ ADP-ribosyltransferase activity|protein N-terminus binding|transcription factor binding|zinc ion binding	g.chr1:226555963G>A	BC037545	CCDS1554.1	1q41-q42	2010-02-16	2008-07-28	2004-08-26	ENSG00000143799	ENSG00000143799	2.4.2.30	"""Poly (ADP-ribose) polymerases"""	270	protein-coding gene	gene with protein product		173870	"""ADP-ribosyltransferase (NAD+; poly (ADP-ribose) polymerase)"", ""poly (ADP-ribose) polymerase family, member 1"""	PPOL, ADPRT		10964595	Standard	NM_001618		Approved	PARP	uc001hqd.4	P09874	OTTHUMG00000037556	ENST00000366794.5:c.2214C>T	1.37:g.226555963G>A							p.T738T	NM_001618	NP_001609	P09874	PARP1_HUMAN		GBM - Glioblastoma multiforme(131;0.0531)	16	2385	-	Breast(184;0.133)		738			PARP alpha-helical.		B1ANJ4|Q8IUZ9	Silent	SNP	ENST00000366794.5	37	c.2214C>T	CCDS1554.1																																																																																				PASS	0.567	PARP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091519.1	NM_001618		59	93	59	93	---	---	---	---
ACTA1	58	broad.mit.edu	37	1	229568343	229568343	+	Silent	SNP	G	G	A	rs121909526		TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr1:229568343G>A	ENST00000366684.3	-	3	516	c.414C>T	c.(412-414)atC>atT	p.I138I	ACTA1_ENST00000366683.2_Intron	NM_001100.3	NP_001091.1	P68133	ACTS_HUMAN	actin, alpha 1, skeletal muscle	138			I -> M (in NEM3; autosomal recessive). {ECO:0000269|PubMed:11333380, ECO:0000269|PubMed:15198992}.		cell growth (GO:0016049)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|response to extracellular stimulus (GO:0009991)|response to lithium ion (GO:0010226)|response to mechanical stimulus (GO:0009612)|response to steroid hormone (GO:0048545)|skeletal muscle fiber adaptation (GO:0043503)|skeletal muscle fiber development (GO:0048741)|skeletal muscle thin filament assembly (GO:0030240)	actin cytoskeleton (GO:0015629)|actin filament (GO:0005884)|blood microparticle (GO:0072562)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|sarcomere (GO:0030017)|stress fiber (GO:0001725)|striated muscle thin filament (GO:0005865)	ADP binding (GO:0043531)|ATP binding (GO:0005524)|myosin binding (GO:0017022)|structural constituent of cytoskeleton (GO:0005200)	p.I138I(3)		endometrium(4)|large_intestine(4)|lung(18)|prostate(1)|urinary_tract(1)	28	Breast(184;0.0858)|Ovarian(103;0.103)	Prostate(94;0.167)				GCACGGCCTGGATGGCCACGT	0.706																																						uc001htm.2																			3	Substitution - coding silent(3)		lung(3)		0	GRCh37	CM012323	ACTA1	M	rs121909526	c.(412-414)ATC>ATT		actin, alpha 1, skeletal muscle	Dornase Alfa(DB00003)						56.0	57.0	56.0					1																	229568343		2202	4299	6501	SO:0001819	synonymous_variant	58				muscle filament sliding|skeletal muscle fiber development|skeletal muscle thin filament assembly	actin filament|cytosol|stress fiber|striated muscle thin filament	ADP binding|ATP binding|myosin binding|structural constituent of cytoskeleton	g.chr1:229568343G>A	J00068	CCDS1578.1	1q42.13	2014-09-17			ENSG00000143632	ENSG00000143632			129	protein-coding gene	gene with protein product	"""nemaline myopathy type 3"""	102610		ACTA		10072583, 6865942	Standard	NM_001100		Approved	NEM3	uc001htm.3	P68133	OTTHUMG00000038006	ENST00000366684.3:c.414C>T	1.37:g.229568343G>A							p.I138I	NM_001100	NP_001091	P68133	ACTS_HUMAN			3	519	-	Breast(184;0.0858)|Ovarian(103;0.103)	Prostate(94;0.167)	138		I -> M (in NEM3; autosomal recessive).			P02568|P99020|Q5T8M9	Silent	SNP	ENST00000366684.3	37	c.414C>T	CCDS1578.1																																																																																				PASS	0.706	ACTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092781.1	NM_001100		33	50	33	50	---	---	---	---
URB2	9816	broad.mit.edu	37	1	229770871	229770871	+	Nonsense_Mutation	SNP	G	G	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr1:229770871G>T	ENST00000258243.2	+	4	647	c.511G>T	c.(511-513)Gag>Tag	p.E171*		NM_014777.2	NP_055592.2	Q14146	URB2_HUMAN	URB2 ribosome biogenesis 2 homolog (S. cerevisiae)	171						aggresome (GO:0016235)|nucleolus (GO:0005730)|nucleus (GO:0005634)		p.E171*(1)		breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(6)	73						CCAGTTGTTTGAGGTCATTCA	0.587																																						uc001hts.1																			1	Substitution - Nonsense(1)		lung(1)	central_nervous_system(2)|ovary(1)	3						c.(511-513)GAG>TAG		URB2 ribosome biogenesis 2 homolog							69.0	55.0	60.0					1																	229770871		2203	4300	6503	SO:0001587	stop_gained	9816					nucleolus		g.chr1:229770871G>T	D50923	CCDS31052.1	1q42.13	2009-11-06	2008-10-01	2008-10-01	ENSG00000135763	ENSG00000135763			28967	protein-coding gene	gene with protein product	"""nucleolar preribosomal-associated protein 1"""		"""KIAA0133"""	KIAA0133		8590280	Standard	NM_014777		Approved	NPA2, NET10	uc001hts.1	Q14146	OTTHUMG00000039464	ENST00000258243.2:c.511G>T	1.37:g.229770871G>T	ENSP00000258243:p.Glu171*					URB2_uc009xfd.1_Nonsense_Mutation_p.E171*	p.E171*	NM_014777	NP_055592	Q14146	URB2_HUMAN			4	647	+			171					Q5VYC9	Nonsense_Mutation	SNP	ENST00000258243.2	37	c.511G>T	CCDS31052.1	.	.	.	.	.	.	.	.	.	.	G	36	5.883586	0.97062	.	.	ENSG00000135763	ENST00000258243	.	.	.	5.68	4.77	0.60923	.	0.212531	0.48286	D	0.000192	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-16.5284	11.5806	0.50889	0.1543:0.0:0.8457:0.0	.	.	.	.	X	171	.	.	E	+	1	0	URB2	227837494	1.000000	0.71417	0.889000	0.34880	0.800000	0.45204	7.518000	0.81795	1.558000	0.49541	0.650000	0.86243	GAG		PASS	0.587	URB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095232.1	NM_014777		42	68	42	68	---	---	---	---
TTC13	79573	broad.mit.edu	37	1	231069608	231069608	+	Splice_Site	SNP	C	C	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr1:231069608C>A	ENST00000366661.4	-	9	908		c.e9-1		TTC13_ENST00000414259.1_Splice_Site|TTC13_ENST00000366662.4_Splice_Site	NM_024525.4	NP_078801.3	Q8NBP0	TTC13_HUMAN	tetratricopeptide repeat domain 13									p.?(1)		central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(9)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	39	Breast(184;0.0871)|Ovarian(103;0.183)	Prostate(94;0.167)		COAD - Colon adenocarcinoma(196;0.243)		CAATAGCTTCCTATAAAAAGT	0.284																																						uc001huf.3																			1	Unknown(1)		lung(1)	ovary(1)|skin(1)	2						c.e9-1		tetratricopeptide repeat domain 13 isoform a							44.0	47.0	46.0					1																	231069608		2202	4297	6499	SO:0001630	splice_region_variant	79573						binding	g.chr1:231069608C>A		CCDS1588.1, CCDS44332.1, CCDS44332.2	1q42.2	2013-01-10			ENSG00000143643	ENSG00000143643		"""Tetratricopeptide (TTC) repeat domain containing"""	26204	protein-coding gene	gene with protein product							Standard	NM_024525		Approved	FLJ22584	uc001huf.4	Q8NBP0	OTTHUMG00000037788	ENST00000366661.4:c.901-1G>T	1.37:g.231069608C>A						TTC13_uc009xfi.2_Splice_Site_p.E248_splice|TTC13_uc009xfj.2_Splice_Site|TTC13_uc001hug.3_Splice_Site_p.E248_splice|TTC13_uc009xfk.1_Splice_Site_p.E191_splice	p.E301_splice	NM_024525	NP_078801	Q8NBP0	TTC13_HUMAN		COAD - Colon adenocarcinoma(196;0.243)	9	932	-	Breast(184;0.0871)|Ovarian(103;0.183)	Prostate(94;0.167)						B1AQI1|B1AQI2|Q8IVP8|Q8NBI0|Q8ND20	Splice_Site	SNP	ENST00000366661.4	37	c.901_splice	CCDS1588.1	.	.	.	.	.	.	.	.	.	.	C	18.04	3.535493	0.64972	.	.	ENSG00000143643	ENST00000366661;ENST00000366662;ENST00000414259;ENST00000522821	.	.	.	5.66	5.66	0.87406	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.7376	0.96214	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	TTC13	229136231	1.000000	0.71417	1.000000	0.80357	0.669000	0.39330	7.432000	0.80349	2.657000	0.90304	0.563000	0.77884	.		PASS	0.284	TTC13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092229.2	NM_024525	Intron	19	108	19	108	---	---	---	---
DISC1	27185	broad.mit.edu	37	1	231829612	231829612	+	Missense_Mutation	SNP	G	G	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr1:231829612G>T	ENST00000602281.1	+	2	161	c.108G>T	c.(106-108)agG>agT	p.R36S	DISC1_ENST00000366636.4_Missense_Mutation_p.R36S|DISC1_ENST00000537876.1_Missense_Mutation_p.R36S|DISC1_ENST00000439617.2_Missense_Mutation_p.R36S|DISC1_ENST00000539444.1_Missense_Mutation_p.R36S|DISC1_ENST00000535983.1_Missense_Mutation_p.R36S|DISC1_ENST00000366637.3_5'UTR|DISC1_ENST00000366633.3_Missense_Mutation_p.R36S|TSNAX-DISC1_ENST00000602962.1_3'UTR|DISC1_ENST00000602873.1_Intron|DISC1_ENST00000317586.4_Missense_Mutation_p.R36S	NM_001164542.1|NM_001164544.1	NP_001158014.1|NP_001158016.1	Q9NRI5	DISC1_HUMAN	disrupted in schizophrenia 1	36	Interaction with MAP1A.				canonical Wnt signaling pathway (GO:0060070)|cell proliferation in forebrain (GO:0021846)|cellular protein localization (GO:0034613)|cerebral cortex radially oriented cell migration (GO:0021799)|microtubule cytoskeleton organization (GO:0000226)|mitochondrial calcium ion homeostasis (GO:0051560)|neuron migration (GO:0001764)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of neuron projection development (GO:0010975)|regulation of synapse maturation (GO:0090128)|TOR signaling (GO:0031929)	cell junction (GO:0030054)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|microtubule (GO:0005874)|mitochondrion (GO:0005739)|postsynaptic membrane (GO:0045211)		p.R36S(4)		breast(1)|cervix(1)|kidney(1)|large_intestine(1)|liver(2)|lung(6)|skin(2)|upper_aerodigestive_tract(1)	15		all_cancers(173;0.0208)|Prostate(94;0.0975)				GCTTTCGGAGGCGGCGGCTGG	0.597																																						uc001huz.2																			4	Substitution - Missense(4)		lung(4)	skin(1)	1						c.(106-108)AGG>AGT		disrupted in schizophrenia 1 isoform L							52.0	57.0	55.0					1																	231829612		2203	4300	6503	SO:0001583	missense	27185				microtubule cytoskeleton organization|neuron migration|positive regulation of neuroblast proliferation|positive regulation of Wnt receptor signaling pathway|Wnt receptor signaling pathway	centrosome|microtubule	protein binding	g.chr1:231829612G>T	AF222980	CCDS31055.1, CCDS31056.1, CCDS53482.1, CCDS53483.1, CCDS53484.1, CCDS59205.1, CCDS59206.1, CCDS59207.1	1q42.1	2008-02-05			ENSG00000162946	ENSG00000162946			2888	protein-coding gene	gene with protein product		605210				10814723	Standard	NM_001164550		Approved		uc010pxh.2	Q9NRI5	OTTHUMG00000037835	ENST00000602281.1:c.108G>T	1.37:g.231829612G>T	ENSP00000473425:p.Arg36Ser					TSNAX-DISC1_uc010pwe.1_5'UTR|TSNAX-DISC1_uc010pwf.1_5'UTR|TSNAX-DISC1_uc010pwg.1_Missense_Mutation_p.R25S|TSNAX-DISC1_uc010pwh.1_5'UTR|TSNAX-DISC1_uc010pwi.1_5'UTR|TSNAX-DISC1_uc010pwj.1_Missense_Mutation_p.R25S|TSNAX-DISC1_uc010pwk.1_Missense_Mutation_p.R25S|TSNAX-DISC1_uc010pwl.1_RNA|DISC1_uc010pwo.1_Missense_Mutation_p.R36S|DISC1_uc010pwp.1_Missense_Mutation_p.R36S|DISC1_uc010pwq.1_Missense_Mutation_p.R36S|DISC1_uc010pwr.1_Missense_Mutation_p.R36S|DISC1_uc010pws.1_Missense_Mutation_p.R36S|DISC1_uc010pwt.1_Missense_Mutation_p.R36S|DISC1_uc010pwu.1_Intron|DISC1_uc010pwv.1_RNA|DISC1_uc010pww.1_Missense_Mutation_p.R36S|DISC1_uc010pwx.1_RNA|DISC1_uc010pwy.1_RNA|DISC1_uc010pwz.1_RNA|DISC1_uc010pxa.1_RNA|DISC1_uc001huy.2_Missense_Mutation_p.R36S|DISC1_uc010pxb.1_Missense_Mutation_p.R36S|DISC1_uc010pxc.1_Missense_Mutation_p.R36S|DISC1_uc010pxd.1_5'UTR|DISC1_uc010pxe.1_Missense_Mutation_p.R36S|DISC1_uc009xfr.2_5'UTR|DISC1_uc010pxf.1_Missense_Mutation_p.R36S|DISC1_uc010pxg.1_Missense_Mutation_p.R36S|DISC1_uc010pxh.1_Missense_Mutation_p.R36S|DISC1_uc010pxi.1_RNA|DISC1_uc010pxj.1_5'UTR|DISC1_uc010pxk.1_RNA|DISC1_uc010pxl.1_RNA|DISC1_uc010pxm.1_Missense_Mutation_p.R36S|DISC1_uc010pxn.1_5'UTR|DISC1_uc001hva.2_Missense_Mutation_p.R36S|DISC1_uc010pwm.1_Missense_Mutation_p.R36S|DISC1_uc001hux.1_Missense_Mutation_p.R36S|DISC1_uc001hvc.3_Missense_Mutation_p.R36S|DISC1_uc010pwn.1_Missense_Mutation_p.R36S	p.R36S	NM_018662	NP_061132	Q9NRI5	DISC1_HUMAN			2	161	+		all_cancers(173;0.0208)|Prostate(94;0.0975)	36			Interaction with MAP1A.		A6NLH2|C4P091|C4P095|C4P0A1|C4P0A3|C4P0B3|C4P0B6|C4P0C1|C9J6D0|O75045|Q5VT44|Q5VT45|Q8IXJ0|Q8IXJ1|Q9BX19|Q9NRI3|Q9NRI4	Missense_Mutation	SNP	ENST00000602281.1	37	c.108G>T	CCDS59205.1	.	.	.	.	.	.	.	.	.	.	G	21.0	4.083623	0.76642	.	.	ENSG00000162946	ENST00000439617;ENST00000366637;ENST00000317586;ENST00000366636;ENST00000366638;ENST00000532576;ENST00000535983;ENST00000537876;ENST00000366633;ENST00000539444;ENST00000295051;ENST00000535944	T;T;T;T;T;T;T;T;T	0.32988	1.43;1.43;1.43;1.43;1.43;1.43;1.43;1.43;1.43	4.68	2.81	0.32909	.	0.387817	0.26704	N	0.022940	T	0.34745	0.0908	L	0.34521	1.04	0.26995	N	0.965057	P;P;P;P;P;P;P;P;P;P;D;D;D;P;P;P;D;D;D;P;D	0.63046	0.944;0.944;0.944;0.944;0.944;0.932;0.944;0.944;0.944;0.944;0.98;0.98;0.992;0.944;0.944;0.944;0.992;0.979;0.979;0.944;0.98	P;P;P;P;P;P;P;P;P;P;P;P;P;P;P;P;P;P;P;P;P	0.58391	0.563;0.646;0.646;0.646;0.646;0.66;0.646;0.646;0.646;0.646;0.762;0.762;0.838;0.646;0.646;0.646;0.838;0.675;0.675;0.646;0.762	T	0.09314	-1.0680	10	0.87932	D	0	-8.3457	8.0007	0.30295	0.1906:0.0:0.8094:0.0	.	36;36;36;36;36;36;36;36;36;36;36;36;36;36;36;36;36;36;36;36;36	C4P094;C4P0A3;C4P098;C4P0A1;C4P0A4;A6NLH2;C4P0A5;C4P095;C4P0B6;C4P0C4;C4P091;C4P0D2;C4P0D3;C4P0B1;A7E2W8;Q5T409;C4P0D0;Q9NRI5-2;Q9NRI5;Q9NRI5-3;Q9NRI5-4	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;DISC1_HUMAN;.;.	S	36	ENSP00000403888:R36S;ENSP00000320784:R36S;ENSP00000355596:R36S;ENSP00000443996:R36S;ENSP00000440909:R36S;ENSP00000355593:R36S;ENSP00000440953:R36S;ENSP00000295051:R36S;ENSP00000441193:R36S	ENSP00000295051:R36S	R	+	3	2	DISC1	229896235	1.000000	0.71417	0.995000	0.50966	0.953000	0.61014	1.039000	0.30266	0.588000	0.29660	0.655000	0.94253	AGG		PASS	0.597	DISC1-019	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000467451.1	NM_018662		33	64	33	64	---	---	---	---
EDARADD	128178	broad.mit.edu	37	1	236590723	236590723	+	Nonsense_Mutation	SNP	C	C	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr1:236590723C>A	ENST00000334232.4	+	4	359	c.192C>A	c.(190-192)tgC>tgA	p.C64*	EDARADD_ENST00000359362.5_Nonsense_Mutation_p.C54*	NM_145861.2	NP_665860.2	Q8WWZ3	EDAD_HUMAN	EDAR-associated death domain	64					cell differentiation (GO:0030154)|hair follicle development (GO:0001942)|odontogenesis of dentin-containing tooth (GO:0042475)|signal transduction (GO:0007165)|trachea gland development (GO:0061153)	cytoplasm (GO:0005737)		p.C64*(1)		endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|skin(1)|stomach(1)	12	Ovarian(103;0.0634)|Breast(184;0.247)	all_cancers(173;0.0232)|Prostate(94;0.174)	OV - Ovarian serous cystadenocarcinoma(106;0.00117)			CTTTGAACTGCCCACGAAATT	0.299																																						uc001hxu.1																			1	Substitution - Nonsense(1)		lung(1)		0						c.(190-192)TGC>TGA		EDAR-associated death domain isoform A							37.0	38.0	38.0					1																	236590723		2201	4295	6496	SO:0001587	stop_gained	128178				cell differentiation|signal transduction	cytoplasm		g.chr1:236590723C>A	AY028914	CCDS1610.1, CCDS31065.1	1q42.3	2013-05-22			ENSG00000186197	ENSG00000186197			14341	protein-coding gene	gene with protein product		606603				11780064	Standard	NM_145861		Approved		uc001hxu.1	Q8WWZ3	OTTHUMG00000039954	ENST00000334232.4:c.192C>A	1.37:g.236590723C>A	ENSP00000335076:p.Cys64*					EDARADD_uc001hxv.1_Nonsense_Mutation_p.C54*	p.C64*	NM_145861	NP_665860	Q8WWZ3	EDAD_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00117)		4	257	+	Ovarian(103;0.0634)|Breast(184;0.247)	all_cancers(173;0.0232)|Prostate(94;0.174)	64					A2VCK5|A8K7B5|B1AL54|B9ZVW5|Q5VYJ7	Nonsense_Mutation	SNP	ENST00000334232.4	37	c.192C>A	CCDS1610.1	.	.	.	.	.	.	.	.	.	.	C	23.1	4.369207	0.82463	.	.	ENSG00000186197	ENST00000439430;ENST00000334232;ENST00000359362	.	.	.	3.98	-0.0333	0.13901	.	0.727535	0.11190	U	0.590029	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.05833	T	0.94	.	6.4675	0.21990	0.0:0.5694:0.0:0.4306	.	.	.	.	X	42;64;54	.	ENSP00000335076:C64X	C	+	3	2	EDARADD	234657346	0.008000	0.16893	0.633000	0.29310	0.118000	0.20060	-0.182000	0.09726	-0.000000	0.14550	0.655000	0.94253	TGC		PASS	0.299	EDARADD-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000096368.1	NM_145861		20	80	20	80	---	---	---	---
RYR2	6262	broad.mit.edu	37	1	237580371	237580371	+	Missense_Mutation	SNP	G	G	T	rs373326624		TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr1:237580371G>T	ENST00000366574.2	+	11	1113	c.796G>T	c.(796-798)Gct>Tct	p.A266S	RYR2_ENST00000360064.6_Missense_Mutation_p.A264S|RYR2_ENST00000542537.1_Missense_Mutation_p.A250S	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	266	MIR 3. {ECO:0000255|PROSITE- ProRule:PRU00131}.				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.A264T(1)|p.A264P(1)|p.A264S(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)			TGAAGGTGGCGCTGTGTCTGT	0.388																																						uc001hyl.1																			3	Substitution - Missense(3)	p.A264T(1)	lung(2)|pancreas(1)	ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1)	33						c.(796-798)GCT>TCT		cardiac muscle ryanodine receptor							130.0	120.0	123.0					1																	237580371		1998	4174	6172	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.chr1:237580371G>T	X91869	CCDS55691.1	1q43	2014-09-17			ENSG00000198626	ENSG00000198626		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10484	protein-coding gene	gene with protein product		180902	"""arrhythmogenic right ventricular dysplasia 2"""	ARVD2		2380170, 8406504, 11159936	Standard	NM_001035		Approved	ARVC2, VTSIP	uc001hyl.1	Q92736	OTTHUMG00000039543	ENST00000366574.2:c.796G>T	1.37:g.237580371G>T	ENSP00000355533:p.Ala266Ser						p.A266S	NM_001035	NP_001026	Q92736	RYR2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00606)		11	916	+	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	266			Cytoplasmic (By similarity).|MIR 3.		Q15411|Q546N8|Q5T3P2	Missense_Mutation	SNP	ENST00000366574.2	37	c.796G>T	CCDS55691.1	.	.	.	.	.	.	.	.	.	.	G	13.28	2.190775	0.38707	.	.	ENSG00000198626	ENST00000366574;ENST00000360064;ENST00000542537	D;D;D	0.91351	-2.83;-2.83;-2.83	5.98	5.98	0.97165	MIR motif (2);MIR (2);	0.000000	0.64402	D	0.000013	D	0.91379	0.7280	L	0.37750	1.13	0.80722	D	1	P	0.48834	0.916	P	0.53861	0.736	D	0.89137	0.3514	10	0.31617	T	0.26	.	20.4581	0.99154	0.0:0.0:1.0:0.0	.	266	Q92736	RYR2_HUMAN	S	266;264;250	ENSP00000355533:A266S;ENSP00000353174:A264S;ENSP00000443798:A250S	ENSP00000353174:A264S	A	+	1	0	RYR2	235646994	1.000000	0.71417	0.997000	0.53966	0.735000	0.41995	4.660000	0.61511	2.835000	0.97688	0.650000	0.86243	GCT		PASS	0.388	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2	NM_001035		15	46	15	46	---	---	---	---
RYR2	6262	broad.mit.edu	37	1	237729917	237729917	+	Missense_Mutation	SNP	C	C	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr1:237729917C>A	ENST00000366574.2	+	28	3582	c.3265C>A	c.(3265-3267)Cgt>Agt	p.R1089S	RYR2_ENST00000360064.6_Missense_Mutation_p.R1087S|RYR2_ENST00000542537.1_Missense_Mutation_p.R1073S	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	1089	4 X approximate repeats.|B30.2/SPRY 2. {ECO:0000255|PROSITE- ProRule:PRU00548}.				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.R1087S(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)			CCGAATCTTCCGTGCCGAGAA	0.552																																						uc001hyl.1																			1	Substitution - Missense(1)		lung(1)	ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1)	33						c.(3265-3267)CGT>AGT		cardiac muscle ryanodine receptor							90.0	90.0	90.0					1																	237729917		1921	4134	6055	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.chr1:237729917C>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.3265C>A	1.37:g.237729917C>A	ENSP00000355533:p.Arg1089Ser						p.R1089S	NM_001035	NP_001026	Q92736	RYR2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00606)		28	3385	+	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	1089			Cytoplasmic (By similarity).|4 X approximate repeats.|B30.2/SPRY 2.		Q15411|Q546N8|Q5T3P2	Missense_Mutation	SNP	ENST00000366574.2	37	c.3265C>A	CCDS55691.1	.	.	.	.	.	.	.	.	.	.	C	19.51	3.841224	0.71488	.	.	ENSG00000198626	ENST00000366574;ENST00000360064;ENST00000542537	D;D;D	0.98296	-4.85;-4.84;-4.84	5.29	4.35	0.52113	B30.2/SPRY domain (1);	0.000000	0.56097	D	0.000032	D	0.98077	0.9366	M	0.78637	2.42	0.80722	D	1	D	0.64830	0.994	P	0.51999	0.687	D	0.97878	1.0290	10	0.87932	D	0	.	12.6992	0.57022	0.3095:0.6905:0.0:0.0	.	1089	Q92736	RYR2_HUMAN	S	1089;1087;1073	ENSP00000355533:R1089S;ENSP00000353174:R1087S;ENSP00000443798:R1073S	ENSP00000353174:R1087S	R	+	1	0	RYR2	235796540	1.000000	0.71417	0.990000	0.47175	0.884000	0.51177	2.940000	0.49003	1.155000	0.42497	0.655000	0.94253	CGT		PASS	0.552	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2	NM_001035		40	72	40	72	---	---	---	---
RYR2	6262	broad.mit.edu	37	1	237758948	237758948	+	Silent	SNP	A	A	G	rs373148393		TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr1:237758948A>G	ENST00000366574.2	+	34	4904	c.4587A>G	c.(4585-4587)acA>acG	p.T1529T	RYR2_ENST00000360064.6_Silent_p.T1527T|RYR2_ENST00000542537.1_Silent_p.T1513T	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	1529	4 X approximate repeats.|B30.2/SPRY 3. {ECO:0000255|PROSITE- ProRule:PRU00548}.				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.T1527T(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)			AACTGAGCACATACTATCAGG	0.473																																						uc001hyl.1																			1	Substitution - coding silent(1)		lung(1)	ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1)	33						c.(4585-4587)ACA>ACG		cardiac muscle ryanodine receptor		A		0,4138		0,0,2069	70.0	75.0	73.0		4587	-11.4	0.9	1		73	1,8425		0,1,4212	no	coding-synonymous	RYR2	NM_001035.2		0,1,6281	GG,GA,AA		0.0119,0.0,0.0080		1529/4968	237758948	1,12563	2069	4213	6282	SO:0001819	synonymous_variant	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.chr1:237758948A>G	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.4587A>G	1.37:g.237758948A>G							p.T1529T	NM_001035	NP_001026	Q92736	RYR2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00606)		34	4707	+	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	1529			Cytoplasmic (By similarity).|B30.2/SPRY 3.|4 X approximate repeats.		Q15411|Q546N8|Q5T3P2	Silent	SNP	ENST00000366574.2	37	c.4587A>G	CCDS55691.1																																																																																				PASS	0.473	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2	NM_001035		19	38	19	38	---	---	---	---
RYR2	6262	broad.mit.edu	37	1	237813349	237813349	+	Missense_Mutation	SNP	C	C	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr1:237813349C>A	ENST00000366574.2	+	50	8002	c.7685C>A	c.(7684-7686)aCc>aAc	p.T2562N	RYR2_ENST00000360064.6_Missense_Mutation_p.T2560N|RYR2_ENST00000542537.1_Missense_Mutation_p.T2546N	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	2562	4 X approximate repeats.				BMP signaling pathway (GO:0030509)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|calcium-mediated signaling (GO:0019722)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle contraction (GO:0060048)|cardiac muscle hypertrophy (GO:0003300)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular response to caffeine (GO:0071313)|cellular response to epinephrine stimulus (GO:0071872)|cytosolic calcium ion homeostasis (GO:0051480)|detection of calcium ion (GO:0005513)|embryonic heart tube morphogenesis (GO:0003143)|establishment of protein localization to endoplasmic reticulum (GO:0072599)|ion transmembrane transport (GO:0034220)|left ventricular cardiac muscle tissue morphogenesis (GO:0003220)|positive regulation of calcium-transporting ATPase activity (GO:1901896)|positive regulation of heart rate (GO:0010460)|positive regulation of ryanodine-sensitive calcium-release channel activity by adrenergic receptor signaling pathway involved in positive regulation of cardiac muscle contraction (GO:0086094)|positive regulation of sequestering of calcium ion (GO:0051284)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|response to redox state (GO:0051775)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|type B pancreatic cell apoptotic process (GO:0097050)|ventricular cardiac muscle cell action potential (GO:0086005)	calcium channel complex (GO:0034704)|extracellular vesicular exosome (GO:0070062)|junctional sarcoplasmic reticulum membrane (GO:0014701)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|intracellular ligand-gated calcium channel activity (GO:0005218)|ion channel binding (GO:0044325)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|suramin binding (GO:0043924)	p.T2560N(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)			TGTTCACTTACCAAAGCTCAG	0.403																																						uc001hyl.1																			1	Substitution - Missense(1)		lung(1)	ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1)	33						c.(7684-7686)ACC>AAC		cardiac muscle ryanodine receptor							195.0	188.0	191.0					1																	237813349		1918	4135	6053	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.chr1:237813349C>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.7685C>A	1.37:g.237813349C>A	ENSP00000355533:p.Thr2562Asn						p.T2562N	NM_001035	NP_001026	Q92736	RYR2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00606)		50	7805	+	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	2562			Cytoplasmic (By similarity).|4 X approximate repeats.		Q15411|Q546N8|Q5T3P2	Missense_Mutation	SNP	ENST00000366574.2	37	c.7685C>A	CCDS55691.1	.	.	.	.	.	.	.	.	.	.	C	28.7	4.942509	0.92526	.	.	ENSG00000198626	ENST00000366574;ENST00000360064;ENST00000542537	D;D;D	0.93604	-3.25;-3.25;-3.25	5.58	5.58	0.84498	.	0.000000	0.64402	D	0.000004	D	0.96839	0.8968	M	0.79805	2.47	0.80722	D	1	D	0.89917	1.0	D	0.71184	0.972	D	0.96927	0.9678	10	0.87932	D	0	-15.1375	19.9299	0.97115	0.0:1.0:0.0:0.0	.	2562	Q92736	RYR2_HUMAN	N	2562;2560;2546	ENSP00000355533:T2562N;ENSP00000353174:T2560N;ENSP00000443798:T2546N	ENSP00000353174:T2560N	T	+	2	0	RYR2	235879972	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.772000	0.85439	2.769000	0.95229	0.655000	0.94253	ACC		PASS	0.403	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2	NM_001035		84	171	84	171	---	---	---	---
RYR2	6262	broad.mit.edu	37	1	237837496	237837496	+	Missense_Mutation	SNP	G	G	C			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr1:237837496G>C	ENST00000366574.2	+	59	9008	c.8691G>C	c.(8689-8691)caG>caC	p.Q2897H	RYR2_ENST00000360064.6_Missense_Mutation_p.Q2895H|RYR2_ENST00000542537.1_Missense_Mutation_p.Q2881H	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	2897	4 X approximate repeats.				BMP signaling pathway (GO:0030509)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|calcium-mediated signaling (GO:0019722)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle contraction (GO:0060048)|cardiac muscle hypertrophy (GO:0003300)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular response to caffeine (GO:0071313)|cellular response to epinephrine stimulus (GO:0071872)|cytosolic calcium ion homeostasis (GO:0051480)|detection of calcium ion (GO:0005513)|embryonic heart tube morphogenesis (GO:0003143)|establishment of protein localization to endoplasmic reticulum (GO:0072599)|ion transmembrane transport (GO:0034220)|left ventricular cardiac muscle tissue morphogenesis (GO:0003220)|positive regulation of calcium-transporting ATPase activity (GO:1901896)|positive regulation of heart rate (GO:0010460)|positive regulation of ryanodine-sensitive calcium-release channel activity by adrenergic receptor signaling pathway involved in positive regulation of cardiac muscle contraction (GO:0086094)|positive regulation of sequestering of calcium ion (GO:0051284)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|response to redox state (GO:0051775)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|type B pancreatic cell apoptotic process (GO:0097050)|ventricular cardiac muscle cell action potential (GO:0086005)	calcium channel complex (GO:0034704)|extracellular vesicular exosome (GO:0070062)|junctional sarcoplasmic reticulum membrane (GO:0014701)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|intracellular ligand-gated calcium channel activity (GO:0005218)|ion channel binding (GO:0044325)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|suramin binding (GO:0043924)	p.Q2895H(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)			AGTTCTTGCAGATCAATGGAT	0.403																																						uc001hyl.1																			1	Substitution - Missense(1)		lung(1)	ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1)	33						c.(8689-8691)CAG>CAC		cardiac muscle ryanodine receptor							89.0	87.0	87.0					1																	237837496		1946	4153	6099	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.chr1:237837496G>C	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.8691G>C	1.37:g.237837496G>C	ENSP00000355533:p.Gln2897His					RYR2_uc010pxz.1_5'Flank	p.Q2897H	NM_001035	NP_001026	Q92736	RYR2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00606)		59	8811	+	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	2897			Modulator (Potential).|Cytoplasmic (By similarity).|4 X approximate repeats.|Calmodulin-binding (Potential).|4.		Q15411|Q546N8|Q5T3P2	Missense_Mutation	SNP	ENST00000366574.2	37	c.8691G>C	CCDS55691.1	.	.	.	.	.	.	.	.	.	.	G	13.31	2.197717	0.38806	.	.	ENSG00000198626	ENST00000366574;ENST00000360064;ENST00000542537	T;D;T	0.91996	-0.44;-2.95;-0.44	5.32	4.41	0.53225	Ryanodine receptor Ryr (1);	0.000000	0.64402	D	0.000014	D	0.93969	0.8069	L	0.56124	1.755	0.80722	D	1	D	0.89917	1.0	D	0.79784	0.993	D	0.93410	0.6768	10	0.54805	T	0.06	.	10.5588	0.45133	0.2042:0.0:0.7958:0.0	.	2897	Q92736	RYR2_HUMAN	H	2897;2895;2881	ENSP00000355533:Q2897H;ENSP00000353174:Q2895H;ENSP00000443798:Q2881H	ENSP00000353174:Q2895H	Q	+	3	2	RYR2	235904119	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.783000	0.47766	1.244000	0.43870	0.557000	0.71058	CAG		PASS	0.403	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2	NM_001035		25	39	25	39	---	---	---	---
RYR2	6262	broad.mit.edu	37	1	237947642	237947642	+	Missense_Mutation	SNP	C	C	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr1:237947642C>A	ENST00000366574.2	+	90	12947	c.12630C>A	c.(12628-12630)gaC>gaA	p.D4210E	RYR2_ENST00000360064.6_Missense_Mutation_p.D4216E|RYR2_ENST00000542537.1_Missense_Mutation_p.D4194E|RYR2_ENST00000609119.1_3'UTR	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	4210					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.D4208E(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)			CGGAGTCGGACTTGAACGAGA	0.537																																						uc001hyl.1																			1	Substitution - Missense(1)		lung(1)	ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1)	33						c.(12628-12630)GAC>GAA		cardiac muscle ryanodine receptor							73.0	79.0	77.0					1																	237947642		2010	4193	6203	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.chr1:237947642C>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.12630C>A	1.37:g.237947642C>A	ENSP00000355533:p.Asp4210Glu					RYR2_uc010pya.1_Missense_Mutation_p.D625E	p.D4210E	NM_001035	NP_001026	Q92736	RYR2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00606)		90	12750	+	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	4210					Q15411|Q546N8|Q5T3P2	Missense_Mutation	SNP	ENST00000366574.2	37	c.12630C>A	CCDS55691.1	.	.	.	.	.	.	.	.	.	.	c	11.00	1.508996	0.27036	.	.	ENSG00000198626	ENST00000366574;ENST00000360064;ENST00000542537;ENST00000542288	D;D;D	0.97209	-4.29;-4.29;-4.29	5.11	-6.48	0.01896	.	0.173595	0.35262	N	0.003326	D	0.93035	0.7783	L	0.42529	1.33	0.53005	D	0.999969	B;B	0.23650	0.005;0.089	B;B	0.29942	0.012;0.109	T	0.74118	-0.3768	10	0.24483	T	0.36	.	13.648	0.62292	0.0:0.5413:0.0:0.4587	.	1184;4210	B4DGV4;Q92736	.;RYR2_HUMAN	E	4210;4216;4194;1184	ENSP00000355533:D4210E;ENSP00000353174:D4216E;ENSP00000443798:D4194E	ENSP00000353174:D4216E	D	+	3	2	RYR2	236014265	0.001000	0.12720	0.040000	0.18447	0.977000	0.68977	-0.619000	0.05572	-1.510000	0.01796	-0.285000	0.09966	GAC		PASS	0.537	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2	NM_001035		34	73	34	73	---	---	---	---
RYR2	6262	broad.mit.edu	37	1	237972324	237972324	+	Missense_Mutation	SNP	G	G	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr1:237972324G>T	ENST00000366574.2	+	100	14739	c.14422G>T	c.(14422-14424)Gat>Tat	p.D4808Y	RYR2_ENST00000360064.6_Missense_Mutation_p.D4814Y|RYR2_ENST00000542537.1_Missense_Mutation_p.D4792Y	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	4808					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.D4806Y(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)			GAAATGTGACGATATGCTAAC	0.338																																						uc001hyl.1																			1	Substitution - Missense(1)		lung(1)	ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1)	33						c.(14422-14424)GAT>TAT		cardiac muscle ryanodine receptor							210.0	204.0	206.0					1																	237972324		1842	4095	5937	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.chr1:237972324G>T	X91869	CCDS55691.1	1q43	2014-09-17			ENSG00000198626	ENSG00000198626		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10484	protein-coding gene	gene with protein product		180902	"""arrhythmogenic right ventricular dysplasia 2"""	ARVD2		2380170, 8406504, 11159936	Standard	NM_001035		Approved	ARVC2, VTSIP	uc001hyl.1	Q92736	OTTHUMG00000039543	ENST00000366574.2:c.14422G>T	1.37:g.237972324G>T	ENSP00000355533:p.Asp4808Tyr					RYR2_uc010pyb.1_Missense_Mutation_p.D241Y	p.D4808Y	NM_001035	NP_001026	Q92736	RYR2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00606)		100	14542	+	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	4808					Q15411|Q546N8|Q5T3P2	Missense_Mutation	SNP	ENST00000366574.2	37	c.14422G>T	CCDS55691.1	.	.	.	.	.	.	.	.	.	.	G	22.1	4.244349	0.79912	.	.	ENSG00000198626	ENST00000366574;ENST00000360064;ENST00000542537;ENST00000536033	D;D;D	0.93247	-3.19;-3.19;-3.19	4.88	4.88	0.63580	Ion transport (1);	0.000000	0.56097	U	0.000024	D	0.96661	0.8910	M	0.78916	2.43	0.80722	D	1	D;D	0.89917	0.996;1.0	D;D	0.91635	0.986;0.999	D	0.97262	0.9905	10	0.87932	D	0	.	18.3877	0.90472	0.0:0.0:1.0:0.0	.	241;4808	F5H3C7;Q92736	.;RYR2_HUMAN	Y	4808;4814;4792;241	ENSP00000355533:D4808Y;ENSP00000353174:D4814Y;ENSP00000443798:D4792Y	ENSP00000353174:D4814Y	D	+	1	0	RYR2	236038947	1.000000	0.71417	0.998000	0.56505	0.851000	0.48451	9.813000	0.99286	2.412000	0.81896	0.563000	0.77884	GAT		PASS	0.338	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2	NM_001035		114	215	114	215	---	---	---	---
ZP4	57829	broad.mit.edu	37	1	238053840	238053840	+	Silent	SNP	G	G	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr1:238053840G>T	ENST00000366570.4	-	1	254	c.96C>A	c.(94-96)ctC>ctA	p.L32L	RP11-193H5.1_ENST00000450451.1_RNA	NM_021186.3	NP_067009.1	Q12836	ZP4_HUMAN	zona pellucida glycoprotein 4	32					acrosomal vesicle exocytosis (GO:0060478)|binding of sperm to zona pellucida (GO:0007339)|intracellular signal transduction (GO:0035556)|multicellular organism reproduction (GO:0032504)|negative regulation of binding of sperm to zona pellucida (GO:2000360)|positive regulation of acrosome reaction (GO:2000344)|positive regulation of humoral immune response (GO:0002922)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of T cell proliferation (GO:0042102)|protein kinase A signaling (GO:0010737)|protein kinase C signaling (GO:0070528)|single fertilization (GO:0007338)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	acrosin binding (GO:0032190)|signal transducer activity (GO:0004871)	p.L32L(1)		breast(6)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(8)|lung(42)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	73	Ovarian(103;0.103)	all_cancers(173;0.00175)|all_epithelial(177;0.162)|all_neural(198;0.164)|Melanoma(53;0.211)|Prostate(94;0.214)	OV - Ovarian serous cystadenocarcinoma(106;0.00989)			GCCCACAGTGGAGCACACTGG	0.507																																					NSCLC(166;160 2029 11600 18754 19936)	uc001hym.2																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|skin(1)	3						c.(94-96)CTC>CTA		zona pellucida glycoprotein 4 preproprotein							59.0	56.0	57.0					1																	238053840		2203	4300	6503	SO:0001819	synonymous_variant	57829				acrosomal vesicle exocytosis|negative regulation of binding of sperm to zona pellucida|positive regulation of acrosome reaction|positive regulation of humoral immune response|positive regulation of protein kinase activity|positive regulation of T cell proliferation|protein kinase A signaling cascade|protein kinase C signaling cascade	integral to membrane|intracellular|plasma membrane|proteinaceous extracellular matrix	acrosin binding|receptor activity	g.chr1:238053840G>T	U05781	CCDS1615.1	1q43	2013-01-17			ENSG00000116996	ENSG00000116996		"""Zona pellucida glycoproteins"""	15770	protein-coding gene	gene with protein product		613514				7841460	Standard	NM_021186		Approved	ZPB	uc001hym.3	Q12836	OTTHUMG00000039586	ENST00000366570.4:c.96C>A	1.37:g.238053840G>T						LOC100130331_uc010pyc.1_Intron	p.L32L	NM_021186	NP_067009	Q12836	ZP4_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00989)		1	96	-	Ovarian(103;0.103)	all_cancers(173;0.00175)|all_epithelial(177;0.162)|all_neural(198;0.164)|Melanoma(53;0.211)|Prostate(94;0.214)	32			Extracellular (Potential).		B2RAE1	Silent	SNP	ENST00000366570.4	37	c.96C>A	CCDS1615.1																																																																																				PASS	0.507	ZP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095476.1			27	67	27	67	---	---	---	---
ZP4	57829	broad.mit.edu	37	1	238053887	238053887	+	Missense_Mutation	SNP	C	C	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr1:238053887C>A	ENST00000366570.4	-	1	207	c.49G>T	c.(49-51)Gtg>Ttg	p.V17L	RP11-193H5.1_ENST00000450451.1_RNA	NM_021186.3	NP_067009.1	Q12836	ZP4_HUMAN	zona pellucida glycoprotein 4	17					acrosomal vesicle exocytosis (GO:0060478)|binding of sperm to zona pellucida (GO:0007339)|intracellular signal transduction (GO:0035556)|multicellular organism reproduction (GO:0032504)|negative regulation of binding of sperm to zona pellucida (GO:2000360)|positive regulation of acrosome reaction (GO:2000344)|positive regulation of humoral immune response (GO:0002922)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of T cell proliferation (GO:0042102)|protein kinase A signaling (GO:0010737)|protein kinase C signaling (GO:0070528)|single fertilization (GO:0007338)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	acrosin binding (GO:0032190)|signal transducer activity (GO:0004871)	p.V17L(1)		breast(6)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(8)|lung(42)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	73	Ovarian(103;0.103)	all_cancers(173;0.00175)|all_epithelial(177;0.162)|all_neural(198;0.164)|Melanoma(53;0.211)|Prostate(94;0.214)	OV - Ovarian serous cystadenocarcinoma(106;0.00989)			TGGCCACTCACAGCAAGAGAT	0.552																																					NSCLC(166;160 2029 11600 18754 19936)	uc001hym.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(1)	3						c.(49-51)GTG>TTG		zona pellucida glycoprotein 4 preproprotein							60.0	56.0	57.0					1																	238053887		2203	4300	6503	SO:0001583	missense	57829				acrosomal vesicle exocytosis|negative regulation of binding of sperm to zona pellucida|positive regulation of acrosome reaction|positive regulation of humoral immune response|positive regulation of protein kinase activity|positive regulation of T cell proliferation|protein kinase A signaling cascade|protein kinase C signaling cascade	integral to membrane|intracellular|plasma membrane|proteinaceous extracellular matrix	acrosin binding|receptor activity	g.chr1:238053887C>A	U05781	CCDS1615.1	1q43	2013-01-17			ENSG00000116996	ENSG00000116996		"""Zona pellucida glycoproteins"""	15770	protein-coding gene	gene with protein product		613514				7841460	Standard	NM_021186		Approved	ZPB	uc001hym.3	Q12836	OTTHUMG00000039586	ENST00000366570.4:c.49G>T	1.37:g.238053887C>A	ENSP00000355529:p.Val17Leu					LOC100130331_uc010pyc.1_Intron	p.V17L	NM_021186	NP_067009	Q12836	ZP4_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00989)		1	49	-	Ovarian(103;0.103)	all_cancers(173;0.00175)|all_epithelial(177;0.162)|all_neural(198;0.164)|Melanoma(53;0.211)|Prostate(94;0.214)	17					B2RAE1	Missense_Mutation	SNP	ENST00000366570.4	37	c.49G>T	CCDS1615.1	.	.	.	.	.	.	.	.	.	.	C	0.007	-1.961695	0.00465	.	.	ENSG00000116996	ENST00000366570	T	0.73047	-0.71	4.5	-9.01	0.00744	.	1.081340	0.07392	N	0.889352	T	0.20333	0.0489	N	0.00224	-1.81	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.09975	-1.0650	10	0.02654	T	1	-0.3501	2.6906	0.05120	0.1769:0.3321:0.3271:0.1639	.	17	Q12836	ZP4_HUMAN	L	17	ENSP00000355529:V17L	ENSP00000355529:V17L	V	-	1	0	ZP4	236120510	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-2.630000	0.00871	-4.066000	0.00077	-1.230000	0.01575	GTG		PASS	0.552	ZP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095476.1			18	59	18	59	---	---	---	---
CHRM3	1131	broad.mit.edu	37	1	240070879	240070879	+	Missense_Mutation	SNP	C	C	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr1:240070879C>A	ENST00000255380.4	+	5	907	c.128C>A	c.(127-129)tCt>tAt	p.S43Y		NM_000740.2	NP_000731.1	P20309	ACM3_HUMAN	cholinergic receptor, muscarinic 3	43					cell proliferation (GO:0008283)|cellular protein modification process (GO:0006464)|energy reserve metabolic process (GO:0006112)|G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)|G-protein coupled receptor signaling pathway (GO:0007186)|nervous system development (GO:0007399)|positive regulation of smooth muscle contraction (GO:0045987)|regulation of insulin secretion (GO:0050796)|regulation of vascular smooth muscle contraction (GO:0003056)|saliva secretion (GO:0046541)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|smooth muscle contraction (GO:0006939)	asymmetric synapse (GO:0032279)|axon terminus (GO:0043679)|cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	acetylcholine binding (GO:0042166)|drug binding (GO:0008144)|G-protein coupled acetylcholine receptor activity (GO:0016907)|phosphatidylinositol phospholipase C activity (GO:0004435)|receptor activity (GO:0004872)	p.S43Y(1)		breast(3)|endometrium(5)|kidney(2)|large_intestine(4)|lung(19)|ovary(4)|prostate(1)|skin(12)|upper_aerodigestive_tract(1)	51	Ovarian(103;0.127)	all_cancers(173;0.00567)|all_neural(198;0.203)	OV - Ovarian serous cystadenocarcinoma(106;0.00989)		Aclidinium(DB08897)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Anisotropine Methylbromide(DB00517)|Aripiprazole(DB01238)|Atropine(DB00572)|Brompheniramine(DB00835)|Cevimeline(DB00185)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clozapine(DB00363)|Cryptenamine(DB00785)|Cyproheptadine(DB00434)|Darifenacin(DB00496)|Desipramine(DB01151)|Diphemanil Methylsulfate(DB00729)|Diphenidol(DB01231)|Disopyramide(DB00280)|Doxepin(DB01142)|Fesoterodine(DB06702)|Glycopyrrolate(DB00986)|Homatropine Methylbromide(DB00725)|Hyoscyamine(DB00424)|Imipramine(DB00458)|Ipratropium bromide(DB00332)|Isopropamide(DB01625)|Ketamine(DB01221)|Loxapine(DB00408)|Maprotiline(DB00934)|Mepenzolate(DB04843)|Methacholine(DB06709)|Methotrimeprazine(DB01403)|Methylscopolamine bromide(DB00462)|Metixene(DB00340)|Mivacurium(DB01226)|Nicardipine(DB00622)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Pancuronium(DB01337)|Paroxetine(DB00715)|Pethidine(DB00454)|Pilocarpine(DB01085)|Pipecuronium(DB01338)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Scopolamine(DB00747)|Solifenacin(DB01591)|Succinylcholine(DB00202)|Tiotropium(DB01409)|Tolterodine(DB01036)|Tramadol(DB00193)|Trihexyphenidyl(DB00376)|Trimipramine(DB00726)|Tropicamide(DB00809)|Ziprasidone(DB00246)	TACAATGTTTCTCGAGCAGCT	0.562																																						uc001hyp.2																			1	Substitution - Missense(1)		lung(1)	ovary(4)|skin(1)	5						c.(127-129)TCT>TAT		cholinergic receptor, muscarinic 3	Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Cevimeline(DB00185)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Darifenacin(DB00496)|Diphemanil Methylsulfate(DB00729)|Diphenidol(DB01231)|Homatropine Methylbromide(DB00725)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Solifenacin(DB01591)|Thiethylperazine(DB00372)|Tiotropium(DB01409)|Tolterodine(DB01036)|Tridihexethyl(DB00505)						82.0	81.0	81.0					1																	240070879		2203	4300	6503	SO:0001583	missense	1131				cell proliferation|energy reserve metabolic process|nervous system development|protein modification process|regulation of insulin secretion	basolateral plasma membrane|cell junction|integral to plasma membrane|postsynaptic membrane	muscarinic acetylcholine receptor activity|phosphatidylinositol phospholipase C activity	g.chr1:240070879C>A	U29589	CCDS1616.1	1q43	2012-09-20			ENSG00000133019	ENSG00000133019		"""Cholinergic receptors"", ""GPCR / Class A : Cholinergic receptors, muscarinic"""	1952	protein-coding gene	gene with protein product	"""acetylcholine receptor, muscarinic 3"""	118494					Standard	XM_005273032		Approved		uc001hyp.3	P20309	OTTHUMG00000039649	ENST00000255380.4:c.128C>A	1.37:g.240070879C>A	ENSP00000255380:p.Ser43Tyr						p.S43Y	NM_000740	NP_000731	P20309	ACM3_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00989)		5	907	+	Ovarian(103;0.127)	all_cancers(173;0.00567)|all_neural(198;0.203)	43			Extracellular (By similarity).		Q0VAJ8|Q4QRI3|Q5VXY2|Q9HB60	Missense_Mutation	SNP	ENST00000255380.4	37	c.128C>A	CCDS1616.1	.	.	.	.	.	.	.	.	.	.	C	5.245	0.230654	0.09969	.	.	ENSG00000133019	ENST00000255380;ENST00000448020	T;T	0.61392	0.11;1.38	5.07	5.07	0.68467	.	0.331877	0.26106	N	0.026316	T	0.51550	0.1681	L	0.39898	1.24	0.32114	N	0.588966	B	0.23128	0.08	B	0.19946	0.027	T	0.60161	-0.7317	10	0.62326	D	0.03	-16.7591	17.1809	0.86855	0.0:1.0:0.0:0.0	.	43	P20309	ACM3_HUMAN	Y	43	ENSP00000255380:S43Y;ENSP00000404764:S43Y	ENSP00000255380:S43Y	S	+	2	0	CHRM3	238137502	0.183000	0.23186	0.128000	0.21923	0.125000	0.20455	3.051000	0.49885	2.788000	0.95919	0.650000	0.86243	TCT		PASS	0.562	CHRM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095644.2	NM_000740		44	114	44	114	---	---	---	---
EXO1	9156	broad.mit.edu	37	1	242052766	242052767	+	Splice_Site	DNP	GA	GA	TT			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr1:242052766_242052767GA>TT	ENST00000366548.3	+	16	2998_2999	c.2405_2406GA>TT	c.(2404-2406)aGA>aTT	p.R802I	EXO1_ENST00000518483.1_Splice_Site|EXO1_ENST00000348581.5_Splice_Site_p.R802I	NM_130398.3	NP_569082.2	Q9UQ84	EXO1_HUMAN	exonuclease 1	802	Interaction with MLH1.|Interaction with MSH2.				DNA catabolic process, endonucleolytic (GO:0000737)|DNA catabolic process, exonucleolytic (GO:0000738)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|humoral immune response mediated by circulating immunoglobulin (GO:0002455)|isotype switching (GO:0045190)|meiotic nuclear division (GO:0007126)|mismatch repair (GO:0006298)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|somatic hypermutation of immunoglobulin genes (GO:0016446)	nucleus (GO:0005634)	5'-3' exodeoxyribonuclease activity (GO:0035312)|5'-3' exonuclease activity (GO:0008409)|DNA binding (GO:0003677)|double-stranded DNA 5'-3' exodeoxyribonuclease activity (GO:0051908)|exonuclease activity (GO:0004527)|flap endonuclease activity (GO:0048256)|metal ion binding (GO:0046872)|RNA-DNA hybrid ribonuclease activity (GO:0004523)|single-stranded DNA 5'-3' exodeoxyribonuclease activity (GO:0045145)|structure-specific DNA binding (GO:0043566)	p.?(2)|p.K802N(1)		NS(1)|central_nervous_system(2)|endometrium(3)|large_intestine(3)|lung(29)|ovary(2)|skin(1)|stomach(2)|urinary_tract(2)	45	Ovarian(103;0.103)	all_cancers(173;0.0555)	OV - Ovarian serous cystadenocarcinoma(106;0.0107)			GTATTTTGCAGAGATTCTGAAA	0.361								Editing and processing nucleases																														uc001hzh.2																			3	Unknown(2)|Substitution - Missense(1)		lung(3)	ovary(2)|lung(2)|skin(1)	5						c.e16-1|c.(2404-2406)AAA>AAT	Direct_reversal_of_damage|Editing_and_processing_nucleases	exonuclease 1 isoform b																																				SO:0001630	splice_region_variant	9156				meiosis|mismatch repair	nucleus	double-stranded DNA specific 5'-3' exodeoxyribonuclease activity|flap endonuclease activity|metal ion binding|protein binding|protein binding|ribonuclease H activity|single-stranded DNA specific 5'-3' exodeoxyribonuclease activity	g.chr1:242052766G>T|g.chr1:242052767A>T	AF042282	CCDS1620.1, CCDS44336.1	1q42-q43	2008-07-18			ENSG00000174371	ENSG00000174371			3511	protein-coding gene	gene with protein product	"""rad2 nuclease family member, homolog of S. cerevisiae exonuclease 1"""	606063				9685493, 9788596	Standard	NM_003686		Approved	HEX1, hExoI	uc001hzh.3	Q9UQ84	OTTHUMG00000039965	Exception_encountered	1.37:g.242052766_242052767delinsTT						EXO1_uc001hzi.2_Intron|EXO1_uc001hzj.2_Splice_Site_p.K802_splice|EXO1_uc009xgq.2_Splice_Site_p.K801_splice|EXO1_uc001hzi.2_Splice_Site_p.K802_splice|EXO1_uc001hzj.2_Missense_Mutation_p.K802N|EXO1_uc009xgq.2_Missense_Mutation_p.K801N	p.K802_splice|p.K802N	NM_130398	NP_569082	Q9UQ84	EXO1_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0107)		16	2946	+	Ovarian(103;0.103)	all_cancers(173;0.0555)	|802			|Interaction with MLH1.|Interaction with MSH2.		O60545|O75214|O75466|Q5T396|Q96IJ1|Q9UG38|Q9UNW0	Splice_Site|Missense_Mutation	SNP	ENST00000366548.3	37	c.2406_splice|c.2406A>T	CCDS1620.1																																																																																				PASS	0.361	EXO1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000096405.1	NM_006027	Missense_Mutation	13|14	106|107	13	106	---	---	---	---
EXO1	9156	broad.mit.edu	37	1	242052787	242052787	+	Missense_Mutation	SNP	C	C	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr1:242052787C>T	ENST00000366548.3	+	16	3019	c.2426C>T	c.(2425-2427)cCt>cTt	p.P809L	EXO1_ENST00000518483.1_3'UTR|EXO1_ENST00000348581.5_Missense_Mutation_p.P809L	NM_130398.3	NP_569082.2	Q9UQ84	EXO1_HUMAN	exonuclease 1	809	Interaction with MLH1.|Interaction with MSH2.				DNA catabolic process, endonucleolytic (GO:0000737)|DNA catabolic process, exonucleolytic (GO:0000738)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|humoral immune response mediated by circulating immunoglobulin (GO:0002455)|isotype switching (GO:0045190)|meiotic nuclear division (GO:0007126)|mismatch repair (GO:0006298)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|somatic hypermutation of immunoglobulin genes (GO:0016446)	nucleus (GO:0005634)	5'-3' exodeoxyribonuclease activity (GO:0035312)|5'-3' exonuclease activity (GO:0008409)|DNA binding (GO:0003677)|double-stranded DNA 5'-3' exodeoxyribonuclease activity (GO:0051908)|exonuclease activity (GO:0004527)|flap endonuclease activity (GO:0048256)|metal ion binding (GO:0046872)|RNA-DNA hybrid ribonuclease activity (GO:0004523)|single-stranded DNA 5'-3' exodeoxyribonuclease activity (GO:0045145)|structure-specific DNA binding (GO:0043566)	p.P809L(1)		NS(1)|central_nervous_system(2)|endometrium(3)|large_intestine(3)|lung(29)|ovary(2)|skin(1)|stomach(2)|urinary_tract(2)	45	Ovarian(103;0.103)	all_cancers(173;0.0555)	OV - Ovarian serous cystadenocarcinoma(106;0.0107)			AAGCTTCCTCCTTGTAAGAAA	0.363								Editing and processing nucleases																														uc001hzh.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|lung(2)|skin(1)	5						c.(2425-2427)CCT>CTT	Direct_reversal_of_damage|Editing_and_processing_nucleases	exonuclease 1 isoform b							79.0	81.0	80.0					1																	242052787		2203	4300	6503	SO:0001583	missense	9156				meiosis|mismatch repair	nucleus	double-stranded DNA specific 5'-3' exodeoxyribonuclease activity|flap endonuclease activity|metal ion binding|protein binding|protein binding|ribonuclease H activity|single-stranded DNA specific 5'-3' exodeoxyribonuclease activity	g.chr1:242052787C>T	AF042282	CCDS1620.1, CCDS44336.1	1q42-q43	2008-07-18			ENSG00000174371	ENSG00000174371			3511	protein-coding gene	gene with protein product	"""rad2 nuclease family member, homolog of S. cerevisiae exonuclease 1"""	606063				9685493, 9788596	Standard	NM_003686		Approved	HEX1, hExoI	uc001hzh.3	Q9UQ84	OTTHUMG00000039965	ENST00000366548.3:c.2426C>T	1.37:g.242052787C>T	ENSP00000355506:p.Pro809Leu					EXO1_uc001hzi.2_3'UTR|EXO1_uc001hzj.2_Missense_Mutation_p.P809L|EXO1_uc009xgq.2_Missense_Mutation_p.P808L	p.P809L	NM_130398	NP_569082	Q9UQ84	EXO1_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0107)		16	2966	+	Ovarian(103;0.103)	all_cancers(173;0.0555)	809			Interaction with MLH1.|Interaction with MSH2.		O60545|O75214|O75466|Q5T396|Q96IJ1|Q9UG38|Q9UNW0	Missense_Mutation	SNP	ENST00000366548.3	37	c.2426C>T	CCDS1620.1	.	.	.	.	.	.	.	.	.	.	C	17.07	3.295053	0.60086	.	.	ENSG00000174371	ENST00000366548;ENST00000348581	T;T	0.63417	-0.04;-0.04	5.68	5.68	0.88126	.	0.194062	0.46442	D	0.000285	T	0.51432	0.1674	N	0.22421	0.69	0.32711	N	0.511549	B;B	0.14805	0.011;0.007	B;B	0.14023	0.01;0.006	T	0.59595	-0.7425	10	0.66056	D	0.02	0.0868	16.7056	0.85371	0.0:1.0:0.0:0.0	.	808;809	A8K5H6;Q9UQ84	.;EXO1_HUMAN	L	809	ENSP00000355506:P809L;ENSP00000311873:P809L	ENSP00000311873:P809L	P	+	2	0	EXO1	240119410	0.993000	0.37304	1.000000	0.80357	0.956000	0.61745	4.434000	0.59935	2.662000	0.90505	0.655000	0.94253	CCT		PASS	0.363	EXO1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000096405.1	NM_006027		21	122	21	122	---	---	---	---
ADSS	159	broad.mit.edu	37	1	244579333	244579333	+	Missense_Mutation	SNP	T	T	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr1:244579333T>A	ENST00000366535.3	-	11	1434	c.1118A>T	c.(1117-1119)aAa>aTa	p.K373I	ADSS_ENST00000462358.1_5'Flank	NM_001126.3	NP_001117.2			adenylosuccinate synthase									p.K373I(1)		endometrium(2)|kidney(1)|large_intestine(3)|lung(1)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	12	all_cancers(71;2.17e-05)|all_epithelial(71;0.00015)|all_neural(11;0.0269)|Breast(184;0.0654)|Glioma(6;0.0724)|Ovarian(71;0.0761)|all_lung(81;0.0874)|Lung NSC(105;0.121)	all_cancers(173;0.0896)|all_epithelial(177;0.172)	all cancers(7;9.71e-08)|GBM - Glioblastoma multiforme(7;1.28e-05)|OV - Ovarian serous cystadenocarcinoma(106;0.0014)			AACTCCAACTTTGATTTCCGT	0.338																																						uc001iaj.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|kidney(1)	3						c.(1117-1119)AAA>ATA		adenylosuccinate synthase	L-Aspartic Acid(DB00128)						98.0	89.0	92.0					1																	244579333		2203	4299	6502	SO:0001583	missense	159				AMP biosynthetic process|immune system process|purine base metabolic process	cytosol|plasma membrane	adenylosuccinate synthase activity|GTP binding|magnesium ion binding|phosphate binding	g.chr1:244579333T>A	BC012356	CCDS1624.1	1q44	2008-02-05			ENSG00000035687	ENSG00000035687	6.3.4.4		292	protein-coding gene	gene with protein product		103060				2004783, 1592113	Standard	NM_001126		Approved		uc001iaj.3	P30520	OTTHUMG00000040102	ENST00000366535.3:c.1118A>T	1.37:g.244579333T>A	ENSP00000355493:p.Lys373Ile						p.K373I	NM_001126	NP_001117	P30520	PURA2_HUMAN	all cancers(7;9.71e-08)|GBM - Glioblastoma multiforme(7;1.28e-05)|OV - Ovarian serous cystadenocarcinoma(106;0.0014)		11	1412	-	all_cancers(71;2.17e-05)|all_epithelial(71;0.00015)|all_neural(11;0.0269)|Breast(184;0.0654)|Glioma(6;0.0724)|Ovarian(71;0.0761)|all_lung(81;0.0874)|Lung NSC(105;0.121)	all_cancers(173;0.0896)|all_epithelial(177;0.172)	373						Missense_Mutation	SNP	ENST00000366535.3	37	c.1118A>T	CCDS1624.1	.	.	.	.	.	.	.	.	.	.	T	28.5	4.928206	0.92389	.	.	ENSG00000035687	ENST00000366535;ENST00000449326	T	0.51817	0.69	5.32	5.32	0.75619	.	0.042231	0.85682	D	0.000000	T	0.78375	0.4273	H	0.96398	3.815	0.80722	D	1	D	0.56968	0.978	D	0.72075	0.976	D	0.85744	0.1339	10	0.87932	D	0	-20.8768	15.2806	0.73781	0.0:0.0:0.0:1.0	.	373	P30520	PURA2_HUMAN	I	373;352	ENSP00000355493:K373I	ENSP00000355493:K373I	K	-	2	0	ADSS	242645956	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.275000	0.72594	1.999000	0.58509	0.460000	0.39030	AAA		PASS	0.338	ADSS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096697.1	NM_001126		37	87	37	87	---	---	---	---
KIF26B	55083	broad.mit.edu	37	1	245849969	245849969	+	Silent	SNP	C	C	A	rs116468848	byFrequency	TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr1:245849969C>A	ENST00000407071.2	+	12	4124	c.3684C>A	c.(3682-3684)ccC>ccA	p.P1228P	KIF26B_ENST00000366518.4_Silent_p.P847P	NM_018012.3	NP_060482.2	Q2KJY2	KI26B_HUMAN	kinesin family member 26B	1228					establishment of cell polarity (GO:0030010)|metabolic process (GO:0008152)|positive regulation of cell-cell adhesion (GO:0022409)|ureteric bud invasion (GO:0072092)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|microtubule motor activity (GO:0003777)	p.P1228P(2)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(21)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	51	all_cancers(71;3.86e-05)|all_epithelial(71;0.000121)|Ovarian(71;0.0412)|all_lung(81;0.0498)|Lung NSC(105;0.0708)|Breast(184;0.127)		OV - Ovarian serous cystadenocarcinoma(106;0.022)			GCTCGCGGCCCGTCAGCATCA	0.657																																						uc001ibf.1																			2	Substitution - coding silent(2)		lung(2)	ovary(3)	3						c.(3682-3684)CCC>CCA		kinesin family member 26B							23.0	30.0	28.0					1																	245849969		2131	4241	6372	SO:0001819	synonymous_variant	55083				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr1:245849969C>A	AK001019	CCDS44342.1	1q44	2008-02-05			ENSG00000162849	ENSG00000162849		"""Kinesins"""	25484	protein-coding gene	gene with protein product		614026					Standard	NM_018012		Approved	FLJ10157	uc001ibf.1	Q2KJY2	OTTHUMG00000040079	ENST00000407071.2:c.3684C>A	1.37:g.245849969C>A						KIF26B_uc001ibg.1_Silent_p.P846P|KIF26B_uc001ibh.1_Silent_p.P470P	p.P1228P	NM_018012	NP_060482	Q2KJY2	KI26B_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.022)		12	4124	+	all_cancers(71;3.86e-05)|all_epithelial(71;0.000121)|Ovarian(71;0.0412)|all_lung(81;0.0498)|Lung NSC(105;0.0708)|Breast(184;0.127)		1228					Q6ZQR9|Q6ZUZ0|Q8IUN3|Q8IVR1|Q9NWB4	Silent	SNP	ENST00000407071.2	37	c.3684C>A	CCDS44342.1																																																																																				PASS	0.657	KIF26B-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381037.1	XM_371354		7	12	7	12	---	---	---	---
CNST	163882	broad.mit.edu	37	1	246810488	246810488	+	Missense_Mutation	SNP	A	A	G	rs144281475	byFrequency	TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr1:246810488A>G	ENST00000366513.4	+	9	1254	c.985A>G	c.(985-987)Aca>Gca	p.T329A	CNST_ENST00000366512.3_Missense_Mutation_p.T329A|CNST_ENST00000483271.1_3'UTR	NM_152609.2	NP_689822.2	Q6PJW8	CNST_HUMAN	consortin, connexin sorting protein	329					negative regulation of phosphatase activity (GO:0010923)|positive regulation of Golgi to plasma membrane protein transport (GO:0042998)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|trans-Golgi network (GO:0005802)|transport vesicle (GO:0030133)	connexin binding (GO:0071253)|phosphatase binding (GO:0019902)	p.T329A(1)		breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(12)|prostate(1)|urinary_tract(2)	28						AAGCCAACATACAGTGGAGCC	0.433											OREG0014367	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc001ibp.2																			1	Substitution - Missense(1)		lung(1)		0						c.(985-987)ACA>GCA		hypothetical protein LOC163882 isoform 1							74.0	79.0	77.0					1																	246810488		2203	4300	6503	SO:0001583	missense	163882				positive regulation of Golgi to plasma membrane protein transport	integral to membrane|plasma membrane|protein complex|trans-Golgi network|transport vesicle	connexin binding	g.chr1:246810488A>G	AK056563	CCDS1628.1, CCDS44343.1	1q44	2012-04-17	2009-11-03	2009-11-03	ENSG00000162852	ENSG00000162852		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	26486	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 64"""	613439	"""chromosome 1 open reading frame 71"""	C1orf71		19864490	Standard	NM_152609		Approved	FLJ32001, PPP1R64	uc001ibp.3	Q6PJW8	OTTHUMG00000040090	ENST00000366513.4:c.985A>G	1.37:g.246810488A>G	ENSP00000355470:p.Thr329Ala		OREG0014367	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	2468	CNST_uc001ibo.3_Missense_Mutation_p.T329A	p.T329A	NM_152609	NP_689822	Q6PJW8	CNST_HUMAN			9	1363	+			329					Q5VSY9|Q5VTM7|Q8IYA9|Q8N3L5|Q8NB09|Q8TEI2|Q96MR5	Missense_Mutation	SNP	ENST00000366513.4	37	c.985A>G	CCDS1628.1	.	.	.	.	.	.	.	.	.	.	A	5.825	0.336442	0.11013	.	.	ENSG00000162852	ENST00000366513;ENST00000366512	T;T	0.17370	2.29;2.28	5.4	-10.8	0.00216	.	2.556530	0.00957	N	0.003042	T	0.08358	0.0208	N	0.08118	0	0.09310	N	0.999999	B;B	0.11235	0.0;0.004	B;B	0.11329	0.0;0.006	T	0.27054	-1.0085	10	0.09843	T	0.71	-19.0529	16.8819	0.86065	0.105:0.6752:0.2198:0.0	.	329;329	Q6PJW8;Q6PJW8-2	CNST_HUMAN;.	A	329	ENSP00000355470:T329A;ENSP00000355469:T329A	ENSP00000355469:T329A	T	+	1	0	CNST	244877111	0.000000	0.05858	0.000000	0.03702	0.009000	0.06853	-0.532000	0.06164	-2.144000	0.00802	0.383000	0.25322	ACA		PASS	0.433	CNST-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096780.1	NM_152609		65	170	65	170	---	---	---	---
SCCPDH	51097	broad.mit.edu	37	1	246929399	246929399	+	Missense_Mutation	SNP	C	C	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr1:246929399C>A	ENST00000366510.3	+	11	1518	c.1142C>A	c.(1141-1143)gCa>gAa	p.A381E		NM_016002.2	NP_057086.2	Q8NBX0	SCPDL_HUMAN	saccharopine dehydrogenase (putative)	381						lipid particle (GO:0005811)|membrane (GO:0016020)|midbody (GO:0030496)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	oxidoreductase activity (GO:0016491)	p.A381E(1)		cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|lung(9)|ovary(1)	17	all_cancers(71;6.8e-05)|all_epithelial(71;7.93e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0545)|Lung NSC(105;0.0618)	all_cancers(173;0.0343)	OV - Ovarian serous cystadenocarcinoma(106;0.00323)	GBM - Glioblastoma multiforme(49;0.0896)		ATGGTTCAGGCAGCCATGACT	0.398																																						uc001ibr.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1141-1143)GCA>GAA		saccharopine dehydrogenase (putative)							188.0	197.0	194.0					1																	246929399		2203	4300	6503	SO:0001583	missense	51097					midbody	binding|saccharopine dehydrogenase (NAD+, L-glutamate-forming) activity	g.chr1:246929399C>A		CCDS31084.1	1q44	2009-11-06			ENSG00000143653	ENSG00000143653			24275	protein-coding gene	gene with protein product						10810093	Standard	NM_016002		Approved	CGI-49, NET11	uc001ibr.3	Q8NBX0	OTTHUMG00000040221	ENST00000366510.3:c.1142C>A	1.37:g.246929399C>A	ENSP00000355467:p.Ala381Glu						p.A381E	NM_016002	NP_057086	Q8NBX0	SCPDH_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00323)	GBM - Glioblastoma multiforme(49;0.0896)	11	1489	+	all_cancers(71;6.8e-05)|all_epithelial(71;7.93e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0545)|Lung NSC(105;0.0618)	all_cancers(173;0.0343)	381					Q8TAR0|Q9Y363	Missense_Mutation	SNP	ENST00000366510.3	37	c.1142C>A	CCDS31084.1	.	.	.	.	.	.	.	.	.	.	C	28.5	4.926967	0.92319	.	.	ENSG00000143653	ENST00000366510;ENST00000366509	T	0.54866	0.55	5.88	5.88	0.94601	.	0.090906	0.85682	D	0.000000	T	0.76758	0.4032	M	0.87180	2.865	0.80722	D	1	D	0.76494	0.999	D	0.68765	0.96	T	0.79862	-0.1624	10	0.72032	D	0.01	.	18.4085	0.90542	0.0:1.0:0.0:0.0	.	381	Q8NBX0	SCPDL_HUMAN	E	381;193	ENSP00000355467:A381E	ENSP00000355466:A193E	A	+	2	0	SCCPDH	244996022	1.000000	0.71417	1.000000	0.80357	0.829000	0.46940	6.691000	0.74573	2.778000	0.95560	0.655000	0.94253	GCA		PASS	0.398	SCCPDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096902.2	NM_016002		68	165	68	165	---	---	---	---
OR2B11	127623	broad.mit.edu	37	1	247615153	247615153	+	Missense_Mutation	SNP	C	C	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr1:247615153C>A	ENST00000318749.6	-	1	155	c.132G>T	c.(130-132)ttG>ttT	p.L44F		NM_001004492.1	NP_001004492.1	Q5JQS5	OR2BB_HUMAN	olfactory receptor, family 2, subfamily B, member 11	44						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.L44F(2)		endometrium(3)|kidney(13)|large_intestine(7)|lung(31)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	60	all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.241)	OV - Ovarian serous cystadenocarcinoma(106;0.0188)			CGACGTTCCCCAACATGGCCA	0.572																																						uc010pyx.1																			2	Substitution - Missense(2)		lung(2)	upper_aerodigestive_tract(1)	1						c.(130-132)TTG>TTT		olfactory receptor, family 2, subfamily B,							161.0	157.0	159.0					1																	247615153		2203	4300	6503	SO:0001583	missense	127623				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:247615153C>A		CCDS31090.1	1q44	2012-08-09			ENSG00000177535	ENSG00000177535		"""GPCR / Class A : Olfactory receptors"""	31249	protein-coding gene	gene with protein product							Standard	NM_001004492		Approved		uc010pyx.2	Q5JQS5	OTTHUMG00000040572	ENST00000318749.6:c.132G>T	1.37:g.247615153C>A	ENSP00000325682:p.Leu44Phe						p.L44F	NM_001004492	NP_001004492	Q5JQS5	OR2BB_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0188)		1	132	-	all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.241)	44			Helical; Name=1; (Potential).		B2RP03	Missense_Mutation	SNP	ENST00000318749.6	37	c.132G>T	CCDS31090.1	.	.	.	.	.	.	.	.	.	.	C	1.268	-0.614020	0.03690	.	.	ENSG00000177535	ENST00000318749	T	0.00617	6.19	4.81	-0.542	0.11854	.	1.119020	0.07001	N	0.823300	T	0.00695	0.0023	L	0.51853	1.615	0.24679	N	0.993376	B	0.28055	0.199	B	0.23716	0.048	T	0.47032	-0.9148	10	0.14656	T	0.56	.	3.2346	0.06760	0.2935:0.3767:0.0:0.3298	.	44	Q5JQS5	OR2BB_HUMAN	F	44	ENSP00000325682:L44F	ENSP00000325682:L44F	L	-	3	2	OR2B11	245681776	0.003000	0.15002	0.420000	0.26596	0.094000	0.18550	-0.312000	0.08113	-0.168000	0.10853	-0.513000	0.04457	TTG		PASS	0.572	OR2B11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097620.1	NM_001004492		71	129	71	129	---	---	---	---
OR2C3	81472	broad.mit.edu	37	1	247694937	247694937	+	Silent	SNP	G	G	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr1:247694937G>A	ENST00000366487.3	-	2	1238	c.877C>T	c.(877-879)Ctg>Ttg	p.L293L	GCSAML_ENST00000463359.1_Intron|GCSAML_ENST00000527084.1_Intron|GCSAML_ENST00000366489.1_Intron|GCSAML_ENST00000366491.2_Intron|GCSAML_ENST00000527541.1_Intron|GCSAML_ENST00000531662.1_Intron|GCSAML_ENST00000366490.3_Intron	NM_198074.4	NP_932340	Q8N628	OR2C3_HUMAN	olfactory receptor, family 2, subfamily C, member 3	293						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.L292L(1)		breast(1)|endometrium(5)|large_intestine(2)|lung(31)|ovary(1)|prostate(1)|skin(2)	43	all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0242)	OV - Ovarian serous cystadenocarcinoma(106;0.0241)			GTGTTCCTCAGGGTGTAAATA	0.547																																						uc009xgy.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|skin(1)	2						c.(877-879)CTG>TTG		olfactory receptor, family 2, subfamily C,							86.0	76.0	79.0					1																	247694937		2203	4300	6503	SO:0001819	synonymous_variant	81472				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:247694937G>A	BC030717	CCDS1634.2	1q44	2014-02-19	2002-02-28		ENSG00000196242	ENSG00000196242		"""GPCR / Class A : Olfactory receptors"""	15005	protein-coding gene	gene with protein product			"""olfactory receptor, family 2, subfamily C, member 4"""	OR2C4, OR2C5P			Standard	NM_198074		Approved	OST742	uc009xgy.3	Q8N628	OTTHUMG00000040579	ENST00000366487.3:c.877C>T	1.37:g.247694937G>A						C1orf150_uc009xgw.2_Intron|C1orf150_uc001ida.3_Intron|C1orf150_uc001idb.3_Intron|C1orf150_uc009xgx.2_Intron|LOC148824_uc001idd.2_5'Flank	p.L293L	NM_198074	NP_932340	Q8N628	OR2C3_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0241)		2	1239	-	all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0242)	293			Helical; Name=7; (Potential).		Q5JQS4|Q6IEZ1|Q8NGW7	Silent	SNP	ENST00000366487.3	37	c.877C>T	CCDS1634.2																																																																																				PASS	0.547	OR2C3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097626.2	NM_198074		30	73	30	73	---	---	---	---
OR14A16	284532	broad.mit.edu	37	1	247978123	247978123	+	Missense_Mutation	SNP	C	C	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr1:247978123C>A	ENST00000357627.1	-	1	908	c.909G>T	c.(907-909)aaG>aaT	p.K303N		NM_001001966.1	NP_001001966.1	Q8NHC5	O14AG_HUMAN	olfactory receptor, family 14, subfamily A, member 16	303						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.K303N(1)		breast(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(32)|skin(2)|stomach(1)	45						TGAGCTTTCCCTTTATCAACA	0.338																																					Ovarian(112;180 1586 15073 21914 33526)	uc001idm.1																			1	Substitution - Missense(1)		lung(1)		0						c.(907-909)AAG>AAT		olfactory receptor, family 14, subfamily A,							55.0	52.0	53.0					1																	247978123		2202	4300	6502	SO:0001583	missense	284532				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:247978123C>A	BK004366	CCDS31097.1	1q44	2012-08-09	2008-04-02	2008-04-02	ENSG00000196772	ENSG00000196772		"""GPCR / Class A : Olfactory receptors"""	15022	protein-coding gene	gene with protein product			"""olfactory receptor, family 5, subfamily AT, member 1"""	OR5AT1			Standard	NM_001001966		Approved		uc001idm.1	Q8NHC5	OTTHUMG00000040199	ENST00000357627.1:c.909G>T	1.37:g.247978123C>A	ENSP00000350248:p.Lys303Asn						p.K303N	NM_001001966	NP_001001966	Q8NHC5	O14AG_HUMAN			1	909	-			303			Cytoplasmic (Potential).		Q6IF96	Missense_Mutation	SNP	ENST00000357627.1	37	c.909G>T	CCDS31097.1	.	.	.	.	.	.	.	.	.	.	C	6.005	0.369260	0.11352	.	.	ENSG00000196772	ENST00000357627	T	0.38560	1.13	3.32	-4.09	0.03951	.	1.774740	0.03550	N	0.225269	T	0.23532	0.0569	L	0.31804	0.96	0.09310	N	1	B	0.22080	0.064	B	0.18871	0.023	T	0.06789	-1.0807	10	0.17832	T	0.49	.	0.4183	0.00452	0.2141:0.2407:0.158:0.3872	.	303	Q8NHC5	O14AG_HUMAN	N	303	ENSP00000350248:K303N	ENSP00000350248:K303N	K	-	3	2	OR14A16	246044746	0.004000	0.15560	0.000000	0.03702	0.001000	0.01503	-0.043000	0.12043	-0.619000	0.05648	-0.540000	0.04249	AAG		PASS	0.338	OR14A16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096856.1	NM_001001966		28	70	28	70	---	---	---	---
OR11L1	391189	broad.mit.edu	37	1	248004856	248004856	+	Missense_Mutation	SNP	G	G	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr1:248004856G>T	ENST00000355784.2	-	1	398	c.343C>A	c.(343-345)Ctg>Atg	p.L115M		NM_001001959.1	NP_001001959.1	Q8NGX0	O11L1_HUMAN	olfactory receptor, family 11, subfamily L, member 1	115						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.L115M(1)		NS(1)|endometrium(4)|kidney(5)|large_intestine(5)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	57	all_cancers(71;8.78e-05)|all_epithelial(71;9.15e-06)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.0786)|Lung NSC(105;0.0858)		OV - Ovarian serous cystadenocarcinoma(106;0.0319)			ATGAAGGCCAGGAGAAAGCAC	0.602																																						uc001idn.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|pancreas(1)|skin(1)	3						c.(343-345)CTG>ATG		olfactory receptor, family 11, subfamily L,							47.0	41.0	43.0					1																	248004856		2203	4300	6503	SO:0001583	missense	391189				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248004856G>T	AB065646	CCDS31098.1	1q44	2013-09-24			ENSG00000197591	ENSG00000197591		"""GPCR / Class A : Olfactory receptors"""	14998	protein-coding gene	gene with protein product							Standard	NM_001001959		Approved		uc001idn.1	Q8NGX0	OTTHUMG00000040193	ENST00000355784.2:c.343C>A	1.37:g.248004856G>T	ENSP00000348033:p.Leu115Met						p.L115M	NM_001001959	NP_001001959	Q8NGX0	O11L1_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0319)		1	343	-	all_cancers(71;8.78e-05)|all_epithelial(71;9.15e-06)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.0786)|Lung NSC(105;0.0858)		115			Helical; Name=3; (Potential).			Missense_Mutation	SNP	ENST00000355784.2	37	c.343C>A	CCDS31098.1	.	.	.	.	.	.	.	.	.	.	G	14.28	2.488508	0.44249	.	.	ENSG00000197591	ENST00000355784	T	0.02280	4.36	4.42	3.5	0.40072	GPCR, rhodopsin-like superfamily (1);	0.000000	0.29980	U	0.010705	T	0.14399	0.0348	M	0.89030	3	0.31683	N	0.642911	D	0.89917	1.0	D	0.97110	1.0	T	0.07849	-1.0751	10	0.87932	D	0	.	12.5949	0.56463	0.0826:0.0:0.9174:0.0	.	115	Q8NGX0	O11L1_HUMAN	M	115	ENSP00000348033:L115M	ENSP00000348033:L115M	L	-	1	2	OR11L1	246071479	0.858000	0.29795	0.748000	0.31131	0.323000	0.28346	1.128000	0.31369	1.209000	0.43321	0.543000	0.68304	CTG		PASS	0.602	OR11L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096850.1	NM_001001959		8	23	8	23	---	---	---	---
TRIM58	25893	broad.mit.edu	37	1	248028214	248028214	+	Missense_Mutation	SNP	C	C	G			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr1:248028214C>G	ENST00000366481.3	+	3	772	c.724C>G	c.(724-726)Cgc>Ggc	p.R242G		NM_015431.3	NP_056246.3	Q8NG06	TRI58_HUMAN	tripartite motif containing 58	242						intracellular (GO:0005622)	zinc ion binding (GO:0008270)	p.R242G(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(39)|ovary(4)|pancreas(1)|skin(7)|stomach(1)	63	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.0286)	OV - Ovarian serous cystadenocarcinoma(106;0.0319)			GAGGTGCCAGCGCCCGGCCCT	0.627																																						uc001ido.2																			1	Substitution - Missense(1)		lung(1)	skin(3)|ovary(1)|pancreas(1)|lung(1)|central_nervous_system(1)	7						c.(724-726)CGC>GGC		tripartite motif-containing 58							9.0	13.0	12.0					1																	248028214		2190	4288	6478	SO:0001583	missense	25893					intracellular	zinc ion binding	g.chr1:248028214C>G	AF327057	CCDS1636.1	1q44	2013-01-09	2011-01-25		ENSG00000162722	ENSG00000162722		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	24150	protein-coding gene	gene with protein product			"""tripartite motif-containing 58"""				Standard	NM_015431		Approved	BIA2	uc001ido.3	Q8NG06	OTTHUMG00000040203	ENST00000366481.3:c.724C>G	1.37:g.248028214C>G	ENSP00000355437:p.Arg242Gly						p.R242G	NM_015431	NP_056246	Q8NG06	TRI58_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0319)		3	772	+	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.0286)	242			Potential.		Q6B0H9	Missense_Mutation	SNP	ENST00000366481.3	37	c.724C>G	CCDS1636.1	.	.	.	.	.	.	.	.	.	.	C	2.910	-0.225536	0.06022	.	.	ENSG00000162722	ENST00000366481	T	0.04654	3.58	4.35	0.209	0.15226	.	0.377447	0.22819	N	0.055241	T	0.02571	0.0078	N	0.16656	0.425	0.09310	N	1	B	0.30482	0.281	B	0.32928	0.155	T	0.44375	-0.9332	10	0.22706	T	0.39	.	3.2789	0.06908	0.3614:0.4372:0.0:0.2014	.	242	Q8NG06	TRI58_HUMAN	G	242	ENSP00000355437:R242G	ENSP00000355437:R242G	R	+	1	0	TRIM58	246094837	0.000000	0.05858	0.009000	0.14445	0.709000	0.40893	0.396000	0.20867	0.172000	0.19760	0.655000	0.94253	CGC		PASS	0.627	TRIM58-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096860.1	NM_015431		4	12	4	12	---	---	---	---
TRIM58	25893	broad.mit.edu	37	1	248039289	248039289	+	Missense_Mutation	SNP	G	G	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr1:248039289G>T	ENST00000366481.3	+	6	1007	c.959G>T	c.(958-960)aGg>aTg	p.R320M	OR2W3_ENST00000537741.1_5'UTR	NM_015431.3	NP_056246.3	Q8NG06	TRI58_HUMAN	tripartite motif containing 58	320	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.					intracellular (GO:0005622)	zinc ion binding (GO:0008270)	p.R320M(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(39)|ovary(4)|pancreas(1)|skin(7)|stomach(1)	63	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.0286)	OV - Ovarian serous cystadenocarcinoma(106;0.0319)			GAACCATGGAGGGATGTCCCC	0.582																																						uc001idp.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|breast(1)|pancreas(1)	3						c.(-82--78)GAGGG>GATGG		olfactory receptor, family 2, subfamily W,							108.0	97.0	100.0					1																	248039289		2203	4300	6503	SO:0001583	missense	343171				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248039289G>T	AF327057	CCDS1636.1	1q44	2013-01-09	2011-01-25		ENSG00000162722	ENSG00000162722		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	24150	protein-coding gene	gene with protein product			"""tripartite motif-containing 58"""				Standard	NM_015431		Approved	BIA2	uc001ido.3	Q8NG06	OTTHUMG00000040203	ENST00000366481.3:c.959G>T	1.37:g.248039289G>T	ENSP00000355437:p.Arg320Met					TRIM58_uc001ido.2_Missense_Mutation_p.R320M		NM_001001957	NP_001001957	Q7Z3T1	OR2W3_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0319)		2	189	+	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)							Q6B0H9	Translation_Start_Site	SNP	ENST00000366481.3	37	c.-80G>T	CCDS1636.1	.	.	.	.	.	.	.	.	.	.	G	13.67	2.305305	0.40795	.	.	ENSG00000162722	ENST00000366481	T	0.11277	2.79	3.61	1.74	0.24563	Concanavalin A-like lectin/glucanase (1);SPRY-associated (1);Butyrophylin-like (1);B30.2/SPRY domain (1);	0.499401	0.19912	N	0.103268	T	0.15132	0.0365	L	0.42529	1.33	0.09310	N	0.999996	P	0.37330	0.59	P	0.50314	0.637	T	0.09079	-1.0691	10	0.62326	D	0.03	.	5.4975	0.16811	0.3498:0.0:0.6502:0.0	.	320	Q8NG06	TRI58_HUMAN	M	320	ENSP00000355437:R320M	ENSP00000355437:R320M	R	+	2	0	TRIM58	246105912	0.003000	0.15002	0.245000	0.24217	0.687000	0.40016	0.712000	0.25779	0.536000	0.28733	0.555000	0.69702	AGG		PASS	0.582	TRIM58-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096860.1	NM_015431		28	79	28	79	---	---	---	---
OR2AK2	391191	broad.mit.edu	37	1	248129078	248129078	+	Missense_Mutation	SNP	A	A	T	rs140557072		TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr1:248129078A>T	ENST00000366480.3	+	1	544	c.445A>T	c.(445-447)Atg>Ttg	p.M149L	OR2L13_ENST00000366478.2_Intron	NM_001004491.1	NP_001004491.1	Q8NG84	O2AK2_HUMAN	olfactory receptor, family 2, subfamily AK, member 2	149						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.M149L(1)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(25)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	36	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0152)			ACATTATCCTATGCTTATGAG	0.433																																					Melanoma(45;390 1181 23848 28461 41504)	uc010pzd.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|breast(1)	2						c.(445-447)ATG>TTG		olfactory receptor, family 2, subfamily AK,							286.0	258.0	267.0					1																	248129078		2203	4300	6503	SO:0001583	missense	391191				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248129078A>T	BK004457	CCDS31102.1	1q44	2012-08-09			ENSG00000187080	ENSG00000187080		"""GPCR / Class A : Olfactory receptors"""	19569	protein-coding gene	gene with protein product				OR2AK1P			Standard	NM_001004491		Approved		uc010pzd.2	Q8NG84	OTTHUMG00000040201	ENST00000366480.3:c.445A>T	1.37:g.248129078A>T	ENSP00000355436:p.Met149Leu					OR2L13_uc001ids.2_Intron	p.M149L	NM_001004491	NP_001004491	Q8NG84	O2AK2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0152)		1	445	+	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		149			Cytoplasmic (Potential).		B2RND1|Q6IF05	Missense_Mutation	SNP	ENST00000366480.3	37	c.445A>T	CCDS31102.1	.	.	.	.	.	.	.	.	.	.	.	8.915	0.959566	0.18507	.	.	ENSG00000187080	ENST00000366480	T	0.01152	5.26	3.03	-3.09	0.05331	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.00468	0.0015	N	0.00754	-1.215	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.45205	-0.9277	9	0.42905	T	0.14	.	5.1828	0.15169	0.3823:0.0:0.4721:0.1456	.	149	Q8NG84	O2AK2_HUMAN	L	149	ENSP00000355436:M149L	ENSP00000355436:M149L	M	+	1	0	OR2AK2	246195701	0.000000	0.05858	0.000000	0.03702	0.115000	0.19883	-5.945000	0.00089	-0.718000	0.04949	0.374000	0.22700	ATG		PASS	0.433	OR2AK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096858.2	NM_001004491		141	275	141	275	---	---	---	---
OR2T33	391195	broad.mit.edu	37	1	248436847	248436847	+	Silent	SNP	G	G	T	rs373501423		TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr1:248436847G>T	ENST00000318021.2	-	1	291	c.270C>A	c.(268-270)atC>atA	p.I90I		NM_001004695.1	NP_001004695.1	Q8NG76	O2T33_HUMAN	olfactory receptor, family 2, subfamily T, member 33	90						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.I90I(1)		NS(2)|breast(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(41)|ovary(1)|prostate(1)|skin(4)	67	all_cancers(71;0.000124)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			CAGCGCGGGAGATGGCCTTAC	0.567																																						uc010pzi.1																			1	Substitution - coding silent(1)		lung(1)	large_intestine(1)|ovary(1)	2						c.(268-270)ATC>ATA		olfactory receptor, family 2, subfamily T,							86.0	77.0	80.0					1																	248436847		2203	4297	6500	SO:0001819	synonymous_variant	391195				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248436847G>T		CCDS31109.1	1q44	2012-08-09			ENSG00000177212	ENSG00000177212		"""GPCR / Class A : Olfactory receptors"""	31255	protein-coding gene	gene with protein product							Standard	NM_001004695		Approved		uc010pzi.2	Q8NG76	OTTHUMG00000040458	ENST00000318021.2:c.270C>A	1.37:g.248436847G>T							p.I90I	NM_001004695	NP_001004695	Q8NG76	O2T33_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0245)		1	270	-	all_cancers(71;0.000124)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		90			Extracellular (Potential).		B2RNN0	Silent	SNP	ENST00000318021.2	37	c.270C>A	CCDS31109.1																																																																																				PASS	0.567	OR2T33-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097354.1	NM_001004695		50	165	50	165	---	---	---	---
OR2T2	401992	broad.mit.edu	37	1	248616772	248616772	+	Missense_Mutation	SNP	C	C	G			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr1:248616772C>G	ENST00000342927.3	+	1	696	c.674C>G	c.(673-675)aCt>aGt	p.T225S		NM_001004136.1	NP_001004136.1	Q6IF00	OR2T2_HUMAN	olfactory receptor, family 2, subfamily T, member 2	225						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.T225S(1)		cervix(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(21)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	37	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			ATCCTCCTGACTGTCCACAGG	0.542																																						uc001iek.1																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(673-675)ACT>AGT		olfactory receptor, family 2, subfamily T,							145.0	100.0	115.0					1																	248616772		2185	4263	6448	SO:0001583	missense	401992				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248616772C>G	BK004462	CCDS31116.1	1q44	2012-08-09	2002-11-13	2002-11-15	ENSG00000196240	ENSG00000196240		"""GPCR / Class A : Olfactory receptors"""	14725	protein-coding gene	gene with protein product			"""olfactory receptor, family 2, subfamily T, member 2 pseudogene"""	OR2T2P		14983052	Standard	NM_001004136		Approved		uc001iek.1	Q6IF00	OTTHUMG00000040480	ENST00000342927.3:c.674C>G	1.37:g.248616772C>G	ENSP00000343062:p.Thr225Ser						p.T225S	NM_001004136	NP_001004136	Q6IF00	OR2T2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0265)		1	674	+	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		225			Cytoplasmic (Potential).		B2RNM1|B9EH01	Missense_Mutation	SNP	ENST00000342927.3	37	c.674C>G	CCDS31116.1	.	.	.	.	.	.	.	.	.	.	c	7.126	0.579015	0.13686	.	.	ENSG00000196240	ENST00000342927	T	0.00145	8.67	3.72	2.8	0.32819	GPCR, rhodopsin-like superfamily (1);	0.000000	0.49305	D	0.000142	T	0.00178	0.0005	L	0.41824	1.3	0.09310	N	1	P	0.48230	0.907	P	0.48089	0.566	T	0.45411	-0.9263	10	0.72032	D	0.01	.	6.9096	0.24329	0.0:0.7163:0.1816:0.1021	.	225	Q6IF00	OR2T2_HUMAN	S	225	ENSP00000343062:T225S	ENSP00000343062:T225S	T	+	2	0	OR2T2	246683395	0.066000	0.20996	0.002000	0.10522	0.001000	0.01503	2.485000	0.45250	0.774000	0.33427	-0.396000	0.06452	ACT		PASS	0.542	OR2T2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097421.1	NM_001004136		39	20	39	20	---	---	---	---
OR2T3	343173	broad.mit.edu	37	1	248637345	248637345	+	Missense_Mutation	SNP	A	A	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr1:248637345A>T	ENST00000359594.2	+	1	719	c.694A>T	c.(694-696)Agg>Tgg	p.R232W		NM_001005495.1	NP_001005495.1	Q8NH03	OR2T3_HUMAN	olfactory receptor, family 2, subfamily T, member 3	232						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.R232W(1)		breast(2)|endometrium(5)|lung(19)|ovary(1)|prostate(1)|skin(3)	31	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			TCTCATCCACAGGATGAATTC	0.547																																						uc001iel.1																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(694-696)AGG>TGG		olfactory receptor, family 2, subfamily T,							174.0	146.0	155.0					1																	248637345		2201	4299	6500	SO:0001583	missense	343173				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248637345A>T		CCDS31117.1	1q44	2012-08-09			ENSG00000196539	ENSG00000196539		"""GPCR / Class A : Olfactory receptors"""	14727	protein-coding gene	gene with protein product							Standard	NM_001005495		Approved		uc001iel.1	Q8NH03	OTTHUMG00000040452	ENST00000359594.2:c.694A>T	1.37:g.248637345A>T	ENSP00000352604:p.Arg232Trp						p.R232W	NM_001005495	NP_001005495	Q8NH03	OR2T3_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0265)		1	694	+	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		232			Cytoplasmic (Potential).		B2RNJ1	Missense_Mutation	SNP	ENST00000359594.2	37	c.694A>T	CCDS31117.1	.	.	.	.	.	.	.	.	.	.	a	14.45	2.538488	0.45176	.	.	ENSG00000196539	ENST00000359594	T	0.00269	8.37	2.37	-4.74	0.03249	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.00754	0.0025	H	0.96691	3.865	0.09310	N	1	D	0.89917	1.0	D	0.87578	0.998	T	0.00775	-1.1571	9	0.87932	D	0	.	10.3674	0.44033	0.801:0.199:0.0:0.0	.	232	Q8NH03	OR2T3_HUMAN	W	232	ENSP00000352604:R232W	ENSP00000352604:R232W	R	+	1	2	OR2T3	246703968	0.000000	0.05858	0.001000	0.08648	0.074000	0.17049	-0.363000	0.07593	-1.473000	0.01881	0.156000	0.16432	AGG		PASS	0.547	OR2T3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097348.1	NM_001005495		47	164	47	164	---	---	---	---
OR2T34	127068	broad.mit.edu	37	1	248737365	248737365	+	Missense_Mutation	SNP	T	T	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr1:248737365T>A	ENST00000328782.2	-	1	715	c.694A>T	c.(694-696)Agg>Tgg	p.R232W		NM_001001821.1	NP_001001821.1	Q8NGX1	O2T34_HUMAN	olfactory receptor, family 2, subfamily T, member 34	232						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.R232W(1)		breast(1)|endometrium(1)|large_intestine(6)|lung(28)|ovary(2)|skin(2)|stomach(3)	43	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			GAATTCATCCTGTGGATGAGA	0.547																																						uc001iep.1																			1	Substitution - Missense(1)		lung(1)	large_intestine(1)|ovary(1)	2						c.(694-696)AGG>TGG		olfactory receptor, family 2, subfamily T,							112.0	128.0	122.0					1																	248737365		2176	4300	6476	SO:0001583	missense	127068				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248737365T>A	BK004477	CCDS31120.1	1q44	2012-08-09			ENSG00000183310	ENSG00000183310		"""GPCR / Class A : Olfactory receptors"""	31256	protein-coding gene	gene with protein product							Standard	NM_001001821		Approved		uc001iep.1	Q8NGX1	OTTHUMG00000040387	ENST00000328782.2:c.694A>T	1.37:g.248737365T>A	ENSP00000330904:p.Arg232Trp						p.R232W	NM_001001821	NP_001001821	Q8NGX1	O2T34_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0265)		1	694	-	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		232			Cytoplasmic (Potential).		B2RNJ8|Q6IEY5|Q96R31	Missense_Mutation	SNP	ENST00000328782.2	37	c.694A>T	CCDS31120.1	.	.	.	.	.	.	.	.	.	.	.	18.33	3.600295	0.66332	.	.	ENSG00000183310	ENST00000328782	T	0.00269	8.37	2.37	2.37	0.29283	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.00815	0.0027	H	0.96269	3.795	0.23036	N	0.998395	D	0.76494	0.999	D	0.83275	0.996	T	0.25222	-1.0138	9	0.87932	D	0	.	9.2409	0.37495	0.0:0.0:0.0:1.0	.	232	Q8NGX1	O2T34_HUMAN	W	232	ENSP00000330904:R232W	ENSP00000330904:R232W	R	-	1	2	OR2T34	246803988	0.001000	0.12720	0.140000	0.22221	0.165000	0.22458	0.844000	0.27654	0.964000	0.38108	0.104000	0.15600	AGG		PASS	0.547	OR2T34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097138.1	NM_001001821		36	241	36	241	---	---	---	---
OR2T34	127068	broad.mit.edu	37	1	248738021	248738021	+	Missense_Mutation	SNP	G	G	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr1:248738021G>T	ENST00000328782.2	-	1	59	c.38C>A	c.(37-39)gCa>gAa	p.A13E		NM_001001821.1	NP_001001821.1	Q8NGX1	O2T34_HUMAN	olfactory receptor, family 2, subfamily T, member 34	13						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.A13E(1)		breast(1)|endometrium(1)|large_intestine(6)|lung(28)|ovary(2)|skin(2)|stomach(3)	43	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			ATCAGTGCTTGCTGTTTGATT	0.468																																						uc001iep.1																			1	Substitution - Missense(1)		lung(1)	large_intestine(1)|ovary(1)	2						c.(37-39)GCA>GAA		olfactory receptor, family 2, subfamily T,							35.0	49.0	44.0					1																	248738021		2070	4265	6335	SO:0001583	missense	127068				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248738021G>T	BK004477	CCDS31120.1	1q44	2012-08-09			ENSG00000183310	ENSG00000183310		"""GPCR / Class A : Olfactory receptors"""	31256	protein-coding gene	gene with protein product							Standard	NM_001001821		Approved		uc001iep.1	Q8NGX1	OTTHUMG00000040387	ENST00000328782.2:c.38C>A	1.37:g.248738021G>T	ENSP00000330904:p.Ala13Glu						p.A13E	NM_001001821	NP_001001821	Q8NGX1	O2T34_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0265)		1	38	-	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		13			Extracellular (Potential).		B2RNJ8|Q6IEY5|Q96R31	Missense_Mutation	SNP	ENST00000328782.2	37	c.38C>A	CCDS31120.1	.	.	.	.	.	.	.	.	.	.	.	3.122	-0.180352	0.06380	.	.	ENSG00000183310	ENST00000328782	T	0.00340	8.04	1.11	-2.21	0.06973	.	.	.	.	.	T	0.00109	0.0003	N	0.10760	0.04	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.05402	-1.0887	9	0.29301	T	0.29	.	4.7457	0.13036	0.1543:0.4277:0.418:0.0	.	13	Q8NGX1	O2T34_HUMAN	E	13	ENSP00000330904:A13E	ENSP00000330904:A13E	A	-	2	0	OR2T34	246804644	0.004000	0.15560	0.000000	0.03702	0.053000	0.15095	0.000000	0.12993	-0.486000	0.06744	0.134000	0.15878	GCA		PASS	0.468	OR2T34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097138.1	NM_001001821		32	124	32	124	---	---	---	---
MYT1L	23040	broad.mit.edu	37	2	1893231	1893231	+	Missense_Mutation	SNP	C	C	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr2:1893231C>A	ENST00000399161.2	-	16	3049	c.2302G>T	c.(2302-2304)Gat>Tat	p.D768Y	MYT1L_ENST00000428368.2_Missense_Mutation_p.D766Y	NM_015025.2	NP_055840.2	Q9UL68	MYT1L_HUMAN	myelin transcription factor 1-like	768					cell differentiation (GO:0030154)|nervous system development (GO:0007399)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)	p.D768Y(1)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(16)|lung(50)|ovary(5)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	97	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.037)|all_epithelial(98;0.241)		OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244)		CCGTTCTCATCCACCTCCATG	0.597																																						uc002qxe.2																			1	Substitution - Missense(1)		lung(1)	ovary(5)|central_nervous_system(1)	6						c.(2302-2304)GAT>TAT		myelin transcription factor 1-like							58.0	60.0	59.0					2																	1893231		2066	4202	6268	SO:0001583	missense	23040				cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr2:1893231C>A	AF036943	CCDS46222.1	2p25.3	2013-01-10			ENSG00000186487	ENSG00000186487		"""Zinc fingers, C2HC-type containing"""	7623	protein-coding gene	gene with protein product	"""neural zinc finger transcription factor 1"""	613084				9373037	Standard	XM_006711862		Approved	KIAA1106, NZF1, ZC2HC4B	uc002qxd.3	Q9UL68	OTTHUMG00000151407	ENST00000399161.2:c.2302G>T	2.37:g.1893231C>A	ENSP00000382114:p.Asp768Tyr					MYT1L_uc002qxd.2_Missense_Mutation_p.D766Y|MYT1L_uc010ewl.1_RNA	p.D768Y	NM_015025	NP_055840	Q9UL68	MYT1L_HUMAN		OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244)	16	3129	-	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.037)|all_epithelial(98;0.241)	768					A7E2C7|B2RP54|Q6IQ17|Q9UPP6	Missense_Mutation	SNP	ENST00000399161.2	37	c.2302G>T		.	.	.	.	.	.	.	.	.	.	C	25.0	4.591217	0.86851	.	.	ENSG00000186487	ENST00000399161;ENST00000295067;ENST00000428368	T;T	0.61742	0.08;0.08	4.78	4.78	0.61160	Myelin transcription factor 1 (1);	0.049446	0.85682	D	0.000000	T	0.78329	0.4266	M	0.82716	2.605	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.75020	0.985;0.964	T	0.82528	-0.0412	10	0.87932	D	0	-34.9763	18.1739	0.89756	0.0:1.0:0.0:0.0	.	768;766	Q9UL68;Q9UL68-4	MYT1L_HUMAN;.	Y	768;714;766	ENSP00000382114:D768Y;ENSP00000396103:D766Y	ENSP00000295067:D714Y	D	-	1	0	MYT1L	1872238	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	7.713000	0.84693	2.368000	0.80403	0.591000	0.81541	GAT		PASS	0.597	MYT1L-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000322493.1	NM_015025		13	68	13	68	---	---	---	---
GREB1	9687	broad.mit.edu	37	2	11735431	11735431	+	Missense_Mutation	SNP	A	A	G	rs373775125		TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr2:11735431A>G	ENST00000381486.2	+	12	2051	c.1751A>G	c.(1750-1752)cAg>cGg	p.Q584R	GREB1_ENST00000234142.5_Missense_Mutation_p.Q584R	NM_014668.3	NP_055483.2	Q4ZG55	GREB1_HUMAN	growth regulation by estrogen in breast cancer 1	584						integral component of membrane (GO:0016021)		p.Q584R(1)		breast(3)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)	30	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.186)		GCGGAGTACCAGAAGGAAGTC	0.522																																					Ovarian(39;850 945 2785 23371 33093)	uc002rbk.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1750-1752)CAG>CGG		growth regulation by estrogen in breast cancer 1			ARG/GLN	1,3719		0,1,1859	67.0	67.0	67.0		1751	5.1	1.0	2		67	0,8186		0,0,4093	no	missense	GREB1	NM_014668.3	43	0,1,5952	GG,GA,AA		0.0,0.0269,0.0084	benign	584/1950	11735431	1,11905	1860	4093	5953	SO:0001583	missense	9687					integral to membrane		g.chr2:11735431A>G		CCDS33146.1, CCDS33147.1, CCDS42655.1	2p25.1	2010-02-17	2009-09-10		ENSG00000196208	ENSG00000196208			24885	protein-coding gene	gene with protein product	"""gene regulated by estrogen in breast cancer"""	611736				11103799	Standard	NM_014668		Approved	KIAA0575	uc002rbk.1	Q4ZG55	OTTHUMG00000141276	ENST00000381486.2:c.1751A>G	2.37:g.11735431A>G	ENSP00000370896:p.Gln584Arg					GREB1_uc002rbo.1_Missense_Mutation_p.Q218R	p.Q584R	NM_014668	NP_055483	Q4ZG55	GREB1_HUMAN		Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.186)	12	2051	+	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)		584					A6NHD0|A6NKN0|B5MDA9|O60321|Q7Z5S2|Q9H2Q6|Q9H2Q7|Q9H2Q8	Missense_Mutation	SNP	ENST00000381486.2	37	c.1751A>G	CCDS42655.1	.	.	.	.	.	.	.	.	.	.	a	19.78	3.891744	0.72524	2.69E-4	0.0	ENSG00000196208	ENST00000381486;ENST00000234142;ENST00000432985	T;T;T	0.44083	3.26;3.26;0.93	5.05	5.05	0.67936	.	0.079120	0.53938	D	0.000052	T	0.47060	0.1425	L	0.47716	1.5	0.30136	N	0.804384	P;D	0.62365	0.867;0.991	B;P	0.56751	0.359;0.805	T	0.43845	-0.9366	10	0.21014	T	0.42	-4.0702	10.3482	0.43918	0.8533:0.0:0.0:0.1467	.	218;584	C9JIG0;Q4ZG55	.;GREB1_HUMAN	R	584;584;218	ENSP00000370896:Q584R;ENSP00000234142:Q584R;ENSP00000403886:Q218R	ENSP00000234142:Q584R	Q	+	2	0	GREB1	11652882	1.000000	0.71417	1.000000	0.80357	0.925000	0.55904	6.329000	0.72920	2.016000	0.59253	0.451000	0.29950	CAG		PASS	0.522	GREB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000280490.1	NM_014668		31	45	31	45	---	---	---	---
DDX1	1653	broad.mit.edu	37	2	15757435	15757435	+	Missense_Mutation	SNP	C	C	G			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr2:15757435C>G	ENST00000381341.2	+	16	1474	c.1085C>G	c.(1084-1086)tCt>tGt	p.S362C	DDX1_ENST00000233084.3_Missense_Mutation_p.S362C			Q92499	DDX1_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 1	362	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.|Necessary for interaction with RELA.				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.S362C(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)		CTGAACTTATCTCAAGTTAGA	0.313																																						uc002rce.2																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(2)|upper_aerodigestive_tract(1)|ovary(1)	4						c.(1084-1086)TCT>TGT		DEAD (Asp-Glu-Ala-Asp) box polypeptide 1							175.0	171.0	173.0					2																	15757435		2203	4300	6503	SO:0001583	missense	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.chr2:15757435C>G	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.1085C>G	2.37:g.15757435C>G	ENSP00000370745:p.Ser362Cys					DDX1_uc010yjq.1_Missense_Mutation_p.S270C	p.S362C	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)	15	1373	+	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)	362			Necessary for interaction with RELA.|Helicase ATP-binding.		B4DME8|B4DPN6	Missense_Mutation	SNP	ENST00000381341.2	37	c.1085C>G	CCDS1686.1	.	.	.	.	.	.	.	.	.	.	C	27.9	4.875745	0.91664	.	.	ENSG00000079785	ENST00000381341;ENST00000233084;ENST00000543614	T;T	0.18016	2.24;2.24	5.78	5.78	0.91487	DEAD-like helicase (2);DNA/RNA helicase, DEAD/DEAH box type, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.48169	0.1485	M	0.83118	2.625	0.80722	D	1	D	0.89917	1.0	D	0.71870	0.975	T	0.48055	-0.9068	10	0.62326	D	0.03	-20.3209	20.0109	0.97448	0.0:1.0:0.0:0.0	.	362	Q92499	DDX1_HUMAN	C	362;362;346	ENSP00000370745:S362C;ENSP00000233084:S362C	ENSP00000233084:S362C	S	+	2	0	DDX1	15674886	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.557000	0.82243	2.738000	0.93877	0.591000	0.81541	TCT		PASS	0.313	DDX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207141.2	NM_004939		82	121	82	121	---	---	---	---
RAD51AP2	729475	broad.mit.edu	37	2	17698070	17698070	+	Missense_Mutation	SNP	C	C	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr2:17698070C>A	ENST00000399080.2	-	1	1636	c.1613G>T	c.(1612-1614)tGt>tTt	p.C538F		NM_001099218.2	NP_001092688.1	Q09MP3	R51A2_HUMAN	RAD51 associated protein 2	538								p.C538F(1)		endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(10)|liver(1)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	49	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					TTGCTTTTTACACTTCAAAAT	0.224																																						uc002rcl.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1612-1614)TGT>TTT		RAD51 associated protein 2							18.0	17.0	18.0					2																	17698070		1760	3981	5741	SO:0001583	missense	729475							g.chr2:17698070C>A	AK310498	CCDS42656.1	2p24.2	2009-01-13			ENSG00000214842	ENSG00000214842			34417	protein-coding gene	gene with protein product						16990250	Standard	NM_001099218		Approved	FLJ17540	uc002rcl.1	Q09MP3	OTTHUMG00000151761	ENST00000399080.2:c.1613G>T	2.37:g.17698070C>A	ENSP00000382030:p.Cys538Phe					RAD51AP2_uc010exn.1_Missense_Mutation_p.C529F	p.C538F	NM_001099218	NP_001092688	Q09MP3	R51A2_HUMAN			1	1637	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)		538						Missense_Mutation	SNP	ENST00000399080.2	37	c.1613G>T	CCDS42656.1	.	.	.	.	.	.	.	.	.	.	C	0.003	-2.549189	0.00140	.	.	ENSG00000214842	ENST00000399080	T	0.22743	1.94	4.69	-2.12	0.07165	.	.	.	.	.	T	0.08758	0.0217	N	0.19112	0.55	0.09310	N	1	B	0.10296	0.003	B	0.15052	0.012	T	0.39683	-0.9602	9	0.10111	T	0.7	0.1775	1.5966	0.02665	0.1406:0.2936:0.1375:0.4283	.	538	Q09MP3	R51A2_HUMAN	F	538	ENSP00000382030:C538F	ENSP00000382030:C538F	C	-	2	0	RAD51AP2	17561551	0.000000	0.05858	0.000000	0.03702	0.010000	0.07245	-0.739000	0.04866	-0.224000	0.09928	-1.283000	0.01379	TGT		PASS	0.224	RAD51AP2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323801.3	NM_001099218		3	39	3	39	---	---	---	---
RAD51AP2	729475	broad.mit.edu	37	2	17699345	17699345	+	Missense_Mutation	SNP	C	C	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr2:17699345C>A	ENST00000399080.2	-	1	361	c.338G>T	c.(337-339)aGc>aTc	p.S113I		NM_001099218.2	NP_001092688.1	Q09MP3	R51A2_HUMAN	RAD51 associated protein 2	113								p.S113I(1)		endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(10)|liver(1)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	49	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					CTGCAAACAGCTACTCATTTG	0.468																																						uc002rcl.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(337-339)AGC>ATC		RAD51 associated protein 2							91.0	90.0	91.0					2																	17699345		1893	4121	6014	SO:0001583	missense	729475							g.chr2:17699345C>A	AK310498	CCDS42656.1	2p24.2	2009-01-13			ENSG00000214842	ENSG00000214842			34417	protein-coding gene	gene with protein product						16990250	Standard	NM_001099218		Approved	FLJ17540	uc002rcl.1	Q09MP3	OTTHUMG00000151761	ENST00000399080.2:c.338G>T	2.37:g.17699345C>A	ENSP00000382030:p.Ser113Ile					RAD51AP2_uc010exn.1_Missense_Mutation_p.S104I	p.S113I	NM_001099218	NP_001092688	Q09MP3	R51A2_HUMAN			1	362	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)		113						Missense_Mutation	SNP	ENST00000399080.2	37	c.338G>T	CCDS42656.1	.	.	.	.	.	.	.	.	.	.	C	14.01	2.407381	0.42715	.	.	ENSG00000214842	ENST00000399080	T	0.35421	1.31	3.5	-0.792	0.10925	.	.	.	.	.	T	0.21347	0.0514	L	0.27053	0.805	0.09310	N	1	P	0.43701	0.815	B	0.39258	0.295	T	0.13548	-1.0505	9	0.87932	D	0	1.0E-4	4.4876	0.11797	0.0:0.4302:0.3617:0.2081	.	113	Q09MP3	R51A2_HUMAN	I	113	ENSP00000382030:S113I	ENSP00000382030:S113I	S	-	2	0	RAD51AP2	17562826	0.000000	0.05858	0.000000	0.03702	0.009000	0.06853	0.044000	0.13992	-0.168000	0.10853	0.591000	0.81541	AGC		PASS	0.468	RAD51AP2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323801.3	NM_001099218		43	81	43	81	---	---	---	---
GEN1	348654	broad.mit.edu	37	2	17954485	17954485	+	Splice_Site	SNP	G	G	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr2:17954485G>T	ENST00000381254.2	+	10	1204		c.e10-1		GEN1_ENST00000317402.7_Splice_Site|SMC6_ENST00000402989.1_Intron	NM_001130009.1	NP_001123481.1	Q17RS7	GEN_HUMAN	GEN1 Holliday junction 5' flap endonuclease						DNA catabolic process, endonucleolytic (GO:0000737)|double-strand break repair via homologous recombination (GO:0000724)|positive regulation of mitotic cell cycle spindle assembly checkpoint (GO:0090267)|regulation of centrosome duplication (GO:0010824)|resolution of mitotic recombination intermediates (GO:0071140)|resolution of recombination intermediates (GO:0071139)	centrosome (GO:0005813)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	crossover junction endodeoxyribonuclease activity (GO:0008821)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.?(1)		breast(6)|central_nervous_system(1)|kidney(1)|large_intestine(3)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	16	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					TTTCTTGCTAGGTTATTCAAG	0.284								Homologous recombination																														uc002rct.2																			1	Unknown(1)		lung(1)	breast(5)|kidney(1)|central_nervous_system(1)|skin(1)	8						c.e10-1	Homologous_recombination	Gen homolog 1, endonuclease							28.0	29.0	29.0					2																	17954485		2195	4281	6476	SO:0001630	splice_region_variant	348654				DNA repair	nucleus	DNA binding|endonuclease activity|metal ion binding	g.chr2:17954485G>T	AK098188	CCDS1691.1	2p24.2	2013-06-04	2013-06-04		ENSG00000178295	ENSG00000178295			26881	protein-coding gene	gene with protein product	"""Holliday junction resolvase"""	612449	"""Gen endonuclease homolog 1 (Drosophila)"""			15576351	Standard	NM_182625		Approved	FLJ40869, Gen	uc002rct.2	Q17RS7	OTTHUMG00000121173	ENST00000381254.2:c.991-1G>T	2.37:g.17954485G>T						SMC6_uc010exo.2_Intron|GEN1_uc010yjs.1_Splice_Site_p.V331_splice|GEN1_uc002rcu.2_Splice_Site_p.V331_splice	p.V331_splice	NM_182625	NP_872431	Q17RS7	GEN_HUMAN			10	1064	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)							Q17RS9|Q6ZN37	Splice_Site	SNP	ENST00000381254.2	37	c.991_splice	CCDS1691.1	.	.	.	.	.	.	.	.	.	.	G	13.01	2.110496	0.37242	.	.	ENSG00000178295	ENST00000317402;ENST00000381254;ENST00000528873	.	.	.	5.16	5.16	0.70880	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.0153	0.92892	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	GEN1	17817966	1.000000	0.71417	0.996000	0.52242	0.353000	0.29299	7.766000	0.85320	2.560000	0.86352	0.655000	0.94253	.		PASS	0.284	GEN1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241661.2	NM_182625	Intron	32	36	32	36	---	---	---	---
NT5C1B	93034	broad.mit.edu	37	2	18745242	18745242	+	Silent	SNP	G	G	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr2:18745242G>T	ENST00000359846.2	-	10	1730	c.1653C>A	c.(1651-1653)acC>acA	p.T551T	NT5C1B_ENST00000600945.1_Silent_p.T551T|NT5C1B-RDH14_ENST00000532967.1_Silent_p.T551T|NT5C1B_ENST00000304081.4_Silent_p.T491T	NM_001002006.2|NM_001199086.1|NM_001199087.1|NM_001199088.1	NP_001002006.1|NP_001186015.1|NP_001186016.1|NP_001186017.1	Q96P26	5NT1B_HUMAN	5'-nucleotidase, cytosolic IB	551					nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase metabolic process (GO:0006144)|purine nucleotide catabolic process (GO:0006195)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|nucleus (GO:0005634)	5'-nucleotidase activity (GO:0008253)|magnesium ion binding (GO:0000287)|nucleotide binding (GO:0000166)	p.T551T(1)		endometrium(2)|kidney(2)|large_intestine(10)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	29	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.177)	Ovarian(717;0.208)				AGCGTCGAAGGGTCTTCAGCA	0.517																																						uc002rcz.2																			1	Substitution - coding silent(1)		lung(1)	skin(2)|ovary(1)	3						c.(1651-1653)ACC>ACA		5' nucleotidase, cytosolic IB isoform 1							84.0	83.0	84.0					2																	18745242		2203	4300	6503	SO:0001819	synonymous_variant	93034				purine base metabolic process|purine nucleotide catabolic process	cytosol	5'-nucleotidase activity|magnesium ion binding|nucleotide binding	g.chr2:18745242G>T	AF356185	CCDS33149.1, CCDS33150.1	2p24.2	2010-08-13			ENSG00000185013	ENSG00000185013	3.1.3.5		17818	protein-coding gene	gene with protein product		610526				11690631	Standard	NM_033253		Approved	AIRP, CN-IB		Q96P26	OTTHUMG00000151765	ENST00000359846.2:c.1653C>A	2.37:g.18745242G>T						NT5C1B_uc002rcy.2_Silent_p.T551T|NT5C1B_uc010exr.2_Intron|NT5C1B_uc010yju.1_Silent_p.T491T|NT5C1B_uc002rda.2_Silent_p.T491T|NT5C1B_uc010yjv.1_Silent_p.T568T|NT5C1B_uc010yjw.1_Silent_p.T534T|NT5C1B_uc010exs.2_Silent_p.T553T	p.T551T	NM_001002006	NP_001002006	Q96P26	5NT1B_HUMAN			10	1757	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.177)	Ovarian(717;0.208)	551					B5MCR0|B7ZVX7|Q53RX2|Q8N9W3|Q8NA26|Q96DU5|Q96KE6|Q96M25|Q96SA3	Silent	SNP	ENST00000359846.2	37	c.1653C>A	CCDS33150.1	.	.	.	.	.	.	.	.	.	.	G	9.919	1.211583	0.22289	.	.	ENSG00000185013	ENST00000418427	.	.	.	6.16	-1.4	0.08968	.	.	.	.	.	T	0.38904	0.1058	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.31081	-0.9956	4	.	.	.	-27.526	0.5587	0.00675	0.2994:0.213:0.288:0.1996	.	.	.	.	T	206	.	.	P	-	1	0	NT5C1B	18608723	0.983000	0.35010	0.996000	0.52242	0.998000	0.95712	0.261000	0.18442	-0.040000	0.13580	0.650000	0.86243	CCT		PASS	0.517	NT5C1B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000323822.1			62	114	62	114	---	---	---	---
PUM2	23369	broad.mit.edu	37	2	20508288	20508288	+	Silent	SNP	G	G	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr2:20508288G>A	ENST00000361078.2	-	5	598	c.576C>T	c.(574-576)ccC>ccT	p.P192P	PUM2_ENST00000319801.5_Silent_p.P192P|PUM2_ENST00000403432.1_Silent_p.P192P|PUM2_ENST00000338086.5_Silent_p.P192P|PUM2_ENST00000420234.1_5'UTR|PUM2_ENST00000536417.1_Silent_p.P136P			Q8TB72	PUM2_HUMAN	pumilio RNA-binding family member 2	192	Interaction with SNAPIN.				regulation of translation (GO:0006417)|stress granule assembly (GO:0034063)	cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|nuclear membrane (GO:0031965)|perinuclear region of cytoplasm (GO:0048471)	poly(A) RNA binding (GO:0044822)	p.P192P(1)		breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(7)|lung(13)|ovary(2)|prostate(4)|urinary_tract(3)	42	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GATTAGTATTGGGGCCCAAGC	0.408																																						uc002rds.1																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(574-576)CCC>CCT		pumilio homolog 2							59.0	63.0	62.0					2																	20508288		2203	4300	6503	SO:0001819	synonymous_variant	23369				regulation of translation	perinuclear region of cytoplasm|stress granule	protein binding|RNA binding	g.chr2:20508288G>A	AF315591	CCDS1698.1, CCDS74486.1, CCDS74487.1	2p22-p21	2013-09-02	2013-09-02		ENSG00000055917	ENSG00000055917			14958	protein-coding gene	gene with protein product		607205	"""pumilio (Drosphila) homolog 2"", ""pumilio homolog 2 (Drosophila)"""			9039502, 12459267, 12511597	Standard	XM_005262607		Approved	PUMH2, KIAA0235	uc002rds.1	Q8TB72	OTTHUMG00000122098	ENST00000361078.2:c.576C>T	2.37:g.20508288G>A						PUM2_uc002rdt.1_Silent_p.P192P|PUM2_uc002rdr.2_Silent_p.P131P|PUM2_uc010yjy.1_Silent_p.P192P|PUM2_uc002rdu.1_Silent_p.P192P|PUM2_uc010yjz.1_Silent_p.P131P	p.P192P	NM_015317	NP_056132	Q8TB72	PUM2_HUMAN			5	599	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		192			Interaction with SNAPIN.		B3KSL0|B4E2B6|D6W527|O00234|Q53TV7|Q8WY43|Q9HAN2	Silent	SNP	ENST00000361078.2	37	c.576C>T																																																																																					PASS	0.408	PUM2-202	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_015317		47	130	47	130	---	---	---	---
APOB	338	broad.mit.edu	37	2	21229324	21229324	+	Silent	SNP	G	G	T	rs558589282		TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr2:21229324G>T	ENST00000233242.1	-	26	10543	c.10416C>A	c.(10414-10416)acC>acA	p.T3472T		NM_000384.2	NP_000375	P04114	APOB_HUMAN	apolipoprotein B	3472	Heparin-binding.				artery morphogenesis (GO:0048844)|blood coagulation (GO:0007596)|cellular response to prostaglandin stimulus (GO:0071379)|cellular response to tumor necrosis factor (GO:0071356)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|cholesterol transport (GO:0030301)|fertilization (GO:0009566)|in utero embryonic development (GO:0001701)|leukocyte migration (GO:0050900)|lipoprotein biosynthetic process (GO:0042158)|lipoprotein catabolic process (GO:0042159)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|low-density lipoprotein particle clearance (GO:0034383)|low-density lipoprotein particle remodeling (GO:0034374)|nervous system development (GO:0007399)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of lipid storage (GO:0010884)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|post-embryonic development (GO:0009791)|receptor-mediated endocytosis (GO:0006898)|regulation of cholesterol biosynthetic process (GO:0045540)|response to carbohydrate (GO:0009743)|response to lipopolysaccharide (GO:0032496)|response to selenium ion (GO:0010269)|response to virus (GO:0009615)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|triglyceride catabolic process (GO:0019433)|triglyceride mobilization (GO:0006642)|very-low-density lipoprotein particle assembly (GO:0034379)	actin cytoskeleton (GO:0015629)|chylomicron (GO:0042627)|chylomicron remnant (GO:0034360)|clathrin-coated endocytic vesicle membrane (GO:0030669)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|endocytic vesicle lumen (GO:0071682)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|endosome lumen (GO:0031904)|endosome membrane (GO:0010008)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|intermediate-density lipoprotein particle (GO:0034363)|intracellular membrane-bounded organelle (GO:0043231)|low-density lipoprotein particle (GO:0034362)|mature chylomicron (GO:0034359)|plasma membrane (GO:0005886)|very-low-density lipoprotein particle (GO:0034361)	cholesterol transporter activity (GO:0017127)|heparin binding (GO:0008201)|lipase binding (GO:0035473)|low-density lipoprotein particle receptor binding (GO:0050750)|phospholipid binding (GO:0005543)	p.T3472T(2)		NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CTCCTTTAGCGGTAGAGTACA	0.398																																						uc002red.2																			2	Substitution - coding silent(2)		lung(2)	ovary(11)|skin(9)|central_nervous_system(3)|large_intestine(2)|upper_aerodigestive_tract(1)|pancreas(1)	27						c.(10414-10416)ACC>ACA		apolipoprotein B precursor	Atorvastatin(DB01076)						102.0	103.0	102.0					2																	21229324		2203	4300	6503	SO:0001819	synonymous_variant	338				cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity	g.chr2:21229324G>T	M14162	CCDS1703.1	2p24-p23	2013-05-29	2013-05-29		ENSG00000084674	ENSG00000084674		"""Apolipoproteins"""	603	protein-coding gene	gene with protein product		107730	"""apolipoprotein B (including Ag(x) antigen)"""				Standard	NM_000384		Approved		uc002red.3	P04114	OTTHUMG00000090785	ENST00000233242.1:c.10416C>A	2.37:g.21229324G>T							p.T3472T	NM_000384	NP_000375	P04114	APOB_HUMAN			26	10544	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		3472			Heparin-binding.		O00502|P78479|P78480|P78481|Q13779|Q13785|Q13786|Q13787|Q13788|Q4ZG63|Q53QC8|Q7Z600|Q9UMN0	Silent	SNP	ENST00000233242.1	37	c.10416C>A	CCDS1703.1																																																																																				PASS	0.398	APOB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207571.1			54	136	54	136	---	---	---	---
APOB	338	broad.mit.edu	37	2	21233860	21233860	+	Silent	SNP	G	G	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr2:21233860G>T	ENST00000233242.1	-	26	6007	c.5880C>A	c.(5878-5880)atC>atA	p.I1960I		NM_000384.2	NP_000375	P04114	APOB_HUMAN	apolipoprotein B	1960					artery morphogenesis (GO:0048844)|blood coagulation (GO:0007596)|cellular response to prostaglandin stimulus (GO:0071379)|cellular response to tumor necrosis factor (GO:0071356)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|cholesterol transport (GO:0030301)|fertilization (GO:0009566)|in utero embryonic development (GO:0001701)|leukocyte migration (GO:0050900)|lipoprotein biosynthetic process (GO:0042158)|lipoprotein catabolic process (GO:0042159)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|low-density lipoprotein particle clearance (GO:0034383)|low-density lipoprotein particle remodeling (GO:0034374)|nervous system development (GO:0007399)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of lipid storage (GO:0010884)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|post-embryonic development (GO:0009791)|receptor-mediated endocytosis (GO:0006898)|regulation of cholesterol biosynthetic process (GO:0045540)|response to carbohydrate (GO:0009743)|response to lipopolysaccharide (GO:0032496)|response to selenium ion (GO:0010269)|response to virus (GO:0009615)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|triglyceride catabolic process (GO:0019433)|triglyceride mobilization (GO:0006642)|very-low-density lipoprotein particle assembly (GO:0034379)	actin cytoskeleton (GO:0015629)|chylomicron (GO:0042627)|chylomicron remnant (GO:0034360)|clathrin-coated endocytic vesicle membrane (GO:0030669)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|endocytic vesicle lumen (GO:0071682)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|endosome lumen (GO:0031904)|endosome membrane (GO:0010008)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|intermediate-density lipoprotein particle (GO:0034363)|intracellular membrane-bounded organelle (GO:0043231)|low-density lipoprotein particle (GO:0034362)|mature chylomicron (GO:0034359)|plasma membrane (GO:0005886)|very-low-density lipoprotein particle (GO:0034361)	cholesterol transporter activity (GO:0017127)|heparin binding (GO:0008201)|lipase binding (GO:0035473)|low-density lipoprotein particle receptor binding (GO:0050750)|phospholipid binding (GO:0005543)	p.I1960I(1)		NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GAGCTGCACTGATGCTTTTCC	0.443																																						uc002red.2																			1	Substitution - coding silent(1)		lung(1)	ovary(11)|skin(9)|central_nervous_system(3)|large_intestine(2)|upper_aerodigestive_tract(1)|pancreas(1)	27						c.(5878-5880)ATC>ATA		apolipoprotein B precursor	Atorvastatin(DB01076)						164.0	152.0	156.0					2																	21233860		2203	4300	6503	SO:0001819	synonymous_variant	338				cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity	g.chr2:21233860G>T	M14162	CCDS1703.1	2p24-p23	2013-05-29	2013-05-29		ENSG00000084674	ENSG00000084674		"""Apolipoproteins"""	603	protein-coding gene	gene with protein product		107730	"""apolipoprotein B (including Ag(x) antigen)"""				Standard	NM_000384		Approved		uc002red.3	P04114	OTTHUMG00000090785	ENST00000233242.1:c.5880C>A	2.37:g.21233860G>T							p.I1960I	NM_000384	NP_000375	P04114	APOB_HUMAN			26	6008	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		1960					O00502|P78479|P78480|P78481|Q13779|Q13785|Q13786|Q13787|Q13788|Q4ZG63|Q53QC8|Q7Z600|Q9UMN0	Silent	SNP	ENST00000233242.1	37	c.5880C>A	CCDS1703.1																																																																																				PASS	0.443	APOB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207571.1			81	105	81	105	---	---	---	---
OTOF	9381	broad.mit.edu	37	2	26699040	26699040	+	Missense_Mutation	SNP	C	C	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr2:26699040C>A	ENST00000272371.2	-	23	2948	c.2822G>T	c.(2821-2823)gGc>gTc	p.G941V	OTOF_ENST00000339598.3_Missense_Mutation_p.G194V|OTOF_ENST00000403946.3_Missense_Mutation_p.G941V|OTOF_ENST00000338581.6_Missense_Mutation_p.G194V|OTOF_ENST00000402415.3_Missense_Mutation_p.G251V	NM_194248.2	NP_919224.1	Q9HC10	OTOF_HUMAN	otoferlin	941					membrane fusion (GO:0061025)|sensory perception of sound (GO:0007605)|synaptic vesicle exocytosis (GO:0016079)	cell junction (GO:0030054)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|synaptic vesicle membrane (GO:0030672)	calcium ion binding (GO:0005509)	p.G941V(1)|p.G251V(1)|p.G194V(1)		NS(1)|autonomic_ganglia(1)|breast(9)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(35)|ovary(8)|pancreas(1)|prostate(5)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	106	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CAGGCCCAGGCCCTGGGCTGC	0.672																																					GBM(102;732 1451 20652 24062 31372)	uc002rhk.2																			3	Substitution - Missense(3)		lung(3)	ovary(3)|breast(2)|central_nervous_system(1)|pancreas(1)	7						c.(2821-2823)GGC>GTC		otoferlin isoform a							34.0	34.0	34.0					2																	26699040		2201	4298	6499	SO:0001583	missense	9381				cellular membrane fusion|sensory perception of sound|synaptic vesicle exocytosis	basolateral plasma membrane|cell junction|cytosol|endoplasmic reticulum membrane|integral to membrane|membrane fraction|synaptic vesicle membrane	calcium ion binding	g.chr2:26699040C>A	AF107403	CCDS1724.1, CCDS1725.1, CCDS1726.1, CCDS46241.1, CCDS74497.1	2p23.1	2014-06-27			ENSG00000115155	ENSG00000115155			8515	protein-coding gene	gene with protein product	"""fer-1-like family member 2"""	603681		DFNB9		10192385, 18381613	Standard	NM_194248		Approved	FER1L2, DFNB6	uc002rhk.3	Q9HC10	OTTHUMG00000096977	ENST00000272371.2:c.2822G>T	2.37:g.26699040C>A	ENSP00000272371:p.Gly941Val					OTOF_uc010yla.1_5'Flank|OTOF_uc002rhh.2_Missense_Mutation_p.G194V|OTOF_uc002rhi.2_Missense_Mutation_p.G251V|OTOF_uc002rhj.2_Missense_Mutation_p.G194V	p.G941V	NM_194248	NP_919224	Q9HC10	OTOF_HUMAN			23	2949	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		941			Cytoplasmic (Potential).		B4DJX0|B5MCC1|B9A0H6|Q53R90|Q9HC08|Q9HC09|Q9Y650	Missense_Mutation	SNP	ENST00000272371.2	37	c.2822G>T	CCDS1725.1	.	.	.	.	.	.	.	.	.	.	C	17.55	3.418242	0.62622	.	.	ENSG00000115155	ENST00000338581;ENST00000339598;ENST00000402415;ENST00000272371;ENST00000403946	T;T;T;T;T	0.80480	-1.12;-1.12;-1.1;-1.38;-1.38	5.08	4.21	0.49690	.	0.093766	0.64402	D	0.000001	D	0.85965	0.5820	M	0.80183	2.485	0.80722	D	1	D;B;B;B	0.59767	0.986;0.03;0.107;0.03	P;B;B;B	0.56343	0.796;0.036;0.061;0.036	D	0.85559	0.1226	10	0.45353	T	0.12	-28.2948	10.3099	0.43702	0.0:0.8396:0.0:0.1604	.	941;194;251;194	Q9HC10;Q9HC10-2;Q9HC10-3;Q9HC10-4	OTOF_HUMAN;.;.;.	V	194;194;251;941;941	ENSP00000345137:G194V;ENSP00000344521:G194V;ENSP00000383906:G251V;ENSP00000272371:G941V;ENSP00000385255:G941V	ENSP00000272371:G941V	G	-	2	0	OTOF	26552544	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	4.656000	0.61483	1.149000	0.42402	0.561000	0.74099	GGC		PASS	0.672	OTOF-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000214047.3			10	36	10	36	---	---	---	---
OTOF	9381	broad.mit.edu	37	2	26712555	26712555	+	Missense_Mutation	SNP	G	G	C			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr2:26712555G>C	ENST00000272371.2	-	10	1077	c.951C>G	c.(949-951)atC>atG	p.I317M	OTOF_ENST00000403946.3_Missense_Mutation_p.I317M	NM_194248.2	NP_919224.1	Q9HC10	OTOF_HUMAN	otoferlin	317	C2 1. {ECO:0000255|PROSITE- ProRule:PRU00041}.				membrane fusion (GO:0061025)|sensory perception of sound (GO:0007605)|synaptic vesicle exocytosis (GO:0016079)	cell junction (GO:0030054)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|synaptic vesicle membrane (GO:0030672)	calcium ion binding (GO:0005509)	p.I317M(1)		NS(1)|autonomic_ganglia(1)|breast(9)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(35)|ovary(8)|pancreas(1)|prostate(5)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	106	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CCGAAATCTTGATGATCTTGT	0.577																																					GBM(102;732 1451 20652 24062 31372)	uc002rhk.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|breast(2)|central_nervous_system(1)|pancreas(1)	7						c.(949-951)ATC>ATG		otoferlin isoform a							53.0	49.0	50.0					2																	26712555		2203	4300	6503	SO:0001583	missense	9381				cellular membrane fusion|sensory perception of sound|synaptic vesicle exocytosis	basolateral plasma membrane|cell junction|cytosol|endoplasmic reticulum membrane|integral to membrane|membrane fraction|synaptic vesicle membrane	calcium ion binding	g.chr2:26712555G>C	AF107403	CCDS1724.1, CCDS1725.1, CCDS1726.1, CCDS46241.1, CCDS74497.1	2p23.1	2014-06-27			ENSG00000115155	ENSG00000115155			8515	protein-coding gene	gene with protein product	"""fer-1-like family member 2"""	603681		DFNB9		10192385, 18381613	Standard	NM_194248		Approved	FER1L2, DFNB6	uc002rhk.3	Q9HC10	OTTHUMG00000096977	ENST00000272371.2:c.951C>G	2.37:g.26712555G>C	ENSP00000272371:p.Ile317Met						p.I317M	NM_194248	NP_919224	Q9HC10	OTOF_HUMAN			10	1078	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		317			Cytoplasmic (Potential).|C2 1.		B4DJX0|B5MCC1|B9A0H6|Q53R90|Q9HC08|Q9HC09|Q9Y650	Missense_Mutation	SNP	ENST00000272371.2	37	c.951C>G	CCDS1725.1	.	.	.	.	.	.	.	.	.	.	G	18.77	3.694631	0.68386	.	.	ENSG00000115155	ENST00000272371;ENST00000403946	T;T	0.73575	-0.76;-0.76	5.66	5.66	0.87406	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.146175	0.64402	D	0.000010	D	0.83229	0.5209	M	0.82323	2.585	0.46317	D	0.998982	P	0.50369	0.934	P	0.50405	0.64	D	0.85918	0.1444	10	0.87932	D	0	-32.6998	18.3049	0.90177	0.0:0.0:1.0:0.0	.	317	Q9HC10	OTOF_HUMAN	M	317	ENSP00000272371:I317M;ENSP00000385255:I317M	ENSP00000272371:I317M	I	-	3	3	OTOF	26566059	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	3.028000	0.49705	2.682000	0.91365	0.555000	0.69702	ATC		PASS	0.577	OTOF-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000214047.3			30	31	30	31	---	---	---	---
SLC5A6	8884	broad.mit.edu	37	2	27424659	27424659	+	Silent	SNP	C	C	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr2:27424659C>A	ENST00000310574.3	-	14	1892	c.1419G>T	c.(1417-1419)ggG>ggT	p.G473G	SLC5A6_ENST00000461319.1_5'UTR|SLC5A6_ENST00000408041.1_Silent_p.G473G	NM_021095.2	NP_066918.2	Q9Y289	SC5A6_HUMAN	solute carrier family 5 (sodium/multivitamin and iodide cotransporter), member 6	473					biotin metabolic process (GO:0006768)|biotin transport (GO:0015878)|pantothenate metabolic process (GO:0015939)|pantothenate transmembrane transport (GO:0015887)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|transport (GO:0006810)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	brush border membrane (GO:0031526)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)|vesicle membrane (GO:0012506)	sodium-dependent multivitamin transmembrane transporter activity (GO:0008523)	p.G473G(1)		endometrium(2)|kidney(2)|large_intestine(3)|lung(8)|ovary(3)|prostate(1)|skin(1)	20	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Biotin(DB00121)|gabapentin enacarbil(DB08872)|Lipoic Acid(DB00166)	TCACGATGCTCCCGATGCCAA	0.612																																						uc002rjd.2																			1	Substitution - coding silent(1)		lung(1)	ovary(2)	2						c.(1417-1419)GGG>GGT		solute carrier family 5 (sodium-dependent	Biotin(DB00121)|Lipoic Acid(DB00166)						111.0	92.0	98.0					2																	27424659		2203	4300	6503	SO:0001819	synonymous_variant	8884				biotin metabolic process|pantothenate metabolic process	integral to plasma membrane|membrane fraction	sodium-dependent multivitamin transmembrane transporter activity	g.chr2:27424659C>A	AF069307	CCDS1740.1	2p23	2013-07-19	2013-07-19		ENSG00000138074	ENSG00000138074		"""Solute carriers"""	11041	protein-coding gene	gene with protein product		604024	"""solute carrier family 5 (sodium-dependent vitamin transporter), member 6"""			9516450, 10329687	Standard	NM_021095		Approved	SMVT	uc002rjd.3	Q9Y289	OTTHUMG00000097075	ENST00000310574.3:c.1419G>T	2.37:g.27424659C>A						SLC5A6_uc010eyv.1_Silent_p.G473G	p.G473G	NM_021095	NP_066918	Q9Y289	SC5A6_HUMAN			14	1810	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		473			Helical; (Potential).		B2RB85|D6W549|Q969Y5	Silent	SNP	ENST00000310574.3	37	c.1419G>T	CCDS1740.1																																																																																				PASS	0.612	SLC5A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214194.1	NM_021095		32	36	32	36	---	---	---	---
IFT172	26160	broad.mit.edu	37	2	27700124	27700124	+	Missense_Mutation	SNP	C	C	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr2:27700124C>A	ENST00000260570.3	-	13	1388	c.1285G>T	c.(1285-1287)Ggt>Tgt	p.G429C	IFT172_ENST00000416524.2_Missense_Mutation_p.G408C|IFT172_ENST00000359466.6_Missense_Mutation_p.G429C|RNU6-986P_ENST00000363133.1_RNA	NM_015662.1	NP_056477.1	Q9UG01	IF172_HUMAN	intraflagellar transport 172	429					bone development (GO:0060348)|brain development (GO:0007420)|cilium assembly (GO:0042384)|cytoplasmic microtubule organization (GO:0031122)|dorsal/ventral pattern formation (GO:0009953)|epidermis development (GO:0008544)|heart looping (GO:0001947)|hindgut development (GO:0061525)|left/right axis specification (GO:0070986)|limb development (GO:0060173)|negative regulation of epithelial cell proliferation (GO:0050680)|neural tube closure (GO:0001843)|Notch signaling pathway (GO:0007219)|palate development (GO:0060021)|positive regulation of smoothened signaling pathway (GO:0045880)|protein processing (GO:0016485)|smoothened signaling pathway (GO:0007224)|spinal cord motor neuron differentiation (GO:0021522)	axoneme (GO:0005930)|ciliary basal body (GO:0036064)|cilium (GO:0005929)|intraciliary transport particle B (GO:0030992)|sperm midpiece (GO:0097225)|sperm principal piece (GO:0097228)|vesicle (GO:0031982)		p.G429C(1)		central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(17)|lung(17)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	43	Acute lymphoblastic leukemia(172;0.155)					CGTACAGAACCCAGGGTGTCA	0.453																																						uc002rku.2																			1	Substitution - Missense(1)		lung(1)	large_intestine(1)|ovary(1)	2						c.(1285-1287)GGT>TGT		selective LIM binding factor homolog							165.0	171.0	169.0					2																	27700124		2203	4300	6503	SO:0001583	missense	26160				cilium assembly	cilium	binding	g.chr2:27700124C>A	AB033005	CCDS1755.1	2p23.3	2014-07-03	2014-07-03		ENSG00000138002	ENSG00000138002		"""Intraflagellar transport homologs"", ""WD repeat domain containing"""	30391	protein-coding gene	gene with protein product	"""wimple homolog"""	607386	"""intraflagellar transport 172 homolog (Chlamydomonas)"""			10788441, 10574461, 24140113	Standard	XM_005264254		Approved	SLB, wim, osm-1, NPHP17	uc002rku.3	Q9UG01	OTTHUMG00000128425	ENST00000260570.3:c.1285G>T	2.37:g.27700124C>A	ENSP00000260570:p.Gly429Cys					IFT172_uc002rkw.2_Missense_Mutation_p.G429C|IFT172_uc010yls.1_Missense_Mutation_p.G408C|IFT172_uc010ezc.2_Missense_Mutation_p.G429C|IFT172_uc002rkv.2_Missense_Mutation_p.G403C	p.G429C	NM_015662	NP_056477	Q9UG01	IF172_HUMAN			13	1336	-	Acute lymphoblastic leukemia(172;0.155)		429					A5PKZ0|B2RNU5|Q86X44|Q96HW4|Q9UFJ9|Q9ULP1	Missense_Mutation	SNP	ENST00000260570.3	37	c.1285G>T	CCDS1755.1	.	.	.	.	.	.	.	.	.	.	C	20.3	3.971140	0.74246	.	.	ENSG00000138002	ENST00000260570;ENST00000359466;ENST00000416524	T;T;T	0.22336	1.96;1.96;1.96	5.83	5.83	0.93111	WD40 repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.48003	0.1476	M	0.83603	2.65	0.80722	D	1	D;D;D;P	0.63046	0.985;0.977;0.992;0.955	P;P;P;P	0.58780	0.844;0.845;0.844;0.746	T	0.49437	-0.8940	10	0.62326	D	0.03	-13.6196	18.6658	0.91489	0.0:1.0:0.0:0.0	.	429;429;403;429	A5PKZ0;Q9UG01-2;E7EP25;Q9UG01	.;.;.;IF172_HUMAN	C	429;429;408	ENSP00000260570:G429C;ENSP00000352443:G429C;ENSP00000407408:G408C	ENSP00000260570:G429C	G	-	1	0	IFT172	27553628	1.000000	0.71417	1.000000	0.80357	0.144000	0.21451	7.178000	0.77657	2.758000	0.94735	0.557000	0.71058	GGT		PASS	0.453	IFT172-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250213.2	NM_015662		62	258	62	258	---	---	---	---
C2orf16	84226	broad.mit.edu	37	2	27800909	27800909	+	Missense_Mutation	SNP	G	G	C			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr2:27800909G>C	ENST00000408964.2	+	1	1521	c.1470G>C	c.(1468-1470)agG>agC	p.R490S		NM_032266.3	NP_115642.3	Q68DN1	CB016_HUMAN	chromosome 2 open reading frame 16	490						extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)		p.R490S(2)		breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(33)|urinary_tract(1)	47	Acute lymphoblastic leukemia(172;0.155)					AATCTGCAAGGACACAGCTTC	0.443																																						uc002rkz.3																			2	Substitution - Missense(2)		lung(2)	large_intestine(1)	1						c.(1468-1470)AGG>AGC		hypothetical protein LOC84226							86.0	79.0	81.0					2																	27800909		1902	4121	6023	SO:0001583	missense	84226							g.chr2:27800909G>C	AL136898	CCDS42666.1	2p23.3	2013-09-20			ENSG00000221843	ENSG00000221843			25275	protein-coding gene	gene with protein product	"""P-S-E-R-S-H-H-S repeats containing"""						Standard	NM_032266		Approved	DKFZp434G118	uc002rkz.4	Q68DN1	OTTHUMG00000159099	ENST00000408964.2:c.1470G>C	2.37:g.27800909G>C	ENSP00000386190:p.Arg490Ser						p.R490S	NM_032266	NP_115642	Q68DN1	CB016_HUMAN			1	1521	+	Acute lymphoblastic leukemia(172;0.155)		490					B9EIQ4|Q53S01|Q8ND64|Q9H088	Missense_Mutation	SNP	ENST00000408964.2	37	c.1470G>C	CCDS42666.1	.	.	.	.	.	.	.	.	.	.	G	12.26	1.885203	0.33255	.	.	ENSG00000221843	ENST00000408964	T	0.06294	3.32	4.49	0.645	0.17782	.	.	.	.	.	T	0.03477	0.0100	N	0.14661	0.345	0.09310	N	1	P	0.42518	0.782	B	0.36845	0.234	T	0.42799	-0.9430	9	0.46703	T	0.11	.	6.5976	0.22683	0.4142:0.0:0.5858:0.0	.	490	Q68DN1	CB016_HUMAN	S	490	ENSP00000386190:R490S	ENSP00000386190:R490S	R	+	3	2	C2orf16	27654413	0.001000	0.12720	0.160000	0.22671	0.893000	0.52053	-0.444000	0.06854	-0.060000	0.13132	-0.259000	0.10710	AGG		PASS	0.443	C2orf16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353292.1	NM_032266		36	73	36	73	---	---	---	---
EHD3	30845	broad.mit.edu	37	2	31483649	31483649	+	Missense_Mutation	SNP	C	C	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr2:31483649C>A	ENST00000322054.5	+	4	1061	c.776C>A	c.(775-777)tCc>tAc	p.S259Y	EHD3_ENST00000541626.1_Intron	NM_014600.2	NP_055415.1	Q9NZN3	EHD3_HUMAN	EH-domain containing 3	259	Dynamin-type G.				blood coagulation (GO:0007596)|endocytic recycling (GO:0032456)|protein homooligomerization (GO:0051260)|protein targeting to plasma membrane (GO:0072661)|regulation of cardiac muscle cell membrane potential (GO:0086036)	cytoplasm (GO:0005737)|endocytic vesicle (GO:0030139)|endosome membrane (GO:0010008)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|recycling endosome membrane (GO:0055038)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|nucleic acid binding (GO:0003676)	p.S259Y(1)		NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(11)|lung(12)|ovary(1)|skin(3)	33	Acute lymphoblastic leukemia(172;0.155)					TCCTTCTGGTCCCACCCCCTC	0.607																																						uc002rnu.2																			1	Substitution - Missense(1)		lung(1)	skin(2)	2						c.(775-777)TCC>TAC		EH-domain containing 3							83.0	82.0	82.0					2																	31483649		2203	4300	6503	SO:0001583	missense	30845				blood coagulation|endocytic recycling|protein homooligomerization	nucleus|plasma membrane|recycling endosome membrane	ATP binding|calcium ion binding|GTP binding|GTPase activity|nucleic acid binding|protein binding	g.chr2:31483649C>A	AF181264	CCDS1774.1	2p21	2013-01-10			ENSG00000013016	ENSG00000013016		"""EF-hand domain containing"""	3244	protein-coding gene	gene with protein product		605891		PAST3		10673336	Standard	NM_014600		Approved		uc002rnu.3	Q9NZN3	OTTHUMG00000099365	ENST00000322054.5:c.776C>A	2.37:g.31483649C>A	ENSP00000327116:p.Ser259Tyr					EHD3_uc010ymt.1_Intron	p.S259Y	NM_014600	NP_055415	Q9NZN3	EHD3_HUMAN			4	1384	+	Acute lymphoblastic leukemia(172;0.155)		259					B4DFR5|D6W574|Q8N514|Q9NZB3	Missense_Mutation	SNP	ENST00000322054.5	37	c.776C>A	CCDS1774.1	.	.	.	.	.	.	.	.	.	.	C	21.4	4.145060	0.77888	.	.	ENSG00000013016	ENST00000322054	D	0.95588	-3.75	4.87	4.0	0.46444	.	0.000000	0.85682	D	0.000000	D	0.96377	0.8818	M	0.83483	2.645	0.80722	D	1	P	0.43412	0.806	P	0.49561	0.615	D	0.96504	0.9373	10	0.87932	D	0	-37.0424	13.2261	0.59914	0.0:0.9238:0.0:0.0762	.	259	Q9NZN3	EHD3_HUMAN	Y	259	ENSP00000327116:S259Y	ENSP00000327116:S259Y	S	+	2	0	EHD3	31337153	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.651000	0.83577	1.280000	0.44463	0.561000	0.74099	TCC		PASS	0.607	EHD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216810.1	NM_014600		28	97	28	97	---	---	---	---
LTBP1	4052	broad.mit.edu	37	2	33498804	33498804	+	Missense_Mutation	SNP	G	G	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr2:33498804G>T	ENST00000404816.2	+	16	3052	c.2699G>T	c.(2698-2700)tGc>tTc	p.C900F	LTBP1_ENST00000404525.1_Missense_Mutation_p.C521F|LTBP1_ENST00000418533.2_Missense_Mutation_p.C574F|LTBP1_ENST00000354476.3_Missense_Mutation_p.C901F|LTBP1_ENST00000390003.4_Missense_Mutation_p.C575F|LTBP1_ENST00000407925.1_Missense_Mutation_p.C574F|LTBP1_ENST00000402934.1_Missense_Mutation_p.C521F			Q14766	LTBP1_HUMAN	latent transforming growth factor beta binding protein 1	900	EGF-like 4; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				extracellular matrix organization (GO:0030198)|sequestering of TGFbeta in extracellular matrix (GO:0035583)|transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0007178)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|transforming growth factor beta binding (GO:0050431)|transforming growth factor beta-activated receptor activity (GO:0005024)	p.C901F(1)		breast(2)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(13)|lung(60)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(3)	108	all_hematologic(175;0.115)	Medulloblastoma(90;0.215)				ACCTGTATATGCTACGAGGGC	0.343																																						uc002ros.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|skin(2)|upper_aerodigestive_tract(1)|lung(1)|central_nervous_system(1)	8						c.(2701-2703)TGC>TTC		latent transforming growth factor beta binding							78.0	76.0	76.0					2																	33498804		2203	4300	6503	SO:0001583	missense	4052				negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta	proteinaceous extracellular matrix	calcium ion binding|growth factor binding|transforming growth factor beta receptor activity	g.chr2:33498804G>T		CCDS33177.1, CCDS33178.1, CCDS33177.2, CCDS33178.2, CCDS54344.1, CCDS54345.1	2p22-p21	2008-05-23			ENSG00000049323	ENSG00000049323		"""Latent transforming growth factor, beta binding proteins"""	6714	protein-coding gene	gene with protein product	"""TGF-beta1-BP-1"""	150390				2350783, 11104663	Standard	NM_206943		Approved		uc021vft.1	Q14766	OTTHUMG00000152118	ENST00000404816.2:c.2699G>T	2.37:g.33498804G>T	ENSP00000386043:p.Cys900Phe					LTBP1_uc002rot.2_Missense_Mutation_p.C575F|LTBP1_uc002rou.2_Missense_Mutation_p.C574F|LTBP1_uc002rov.2_Missense_Mutation_p.C521F|LTBP1_uc010ymz.1_Missense_Mutation_p.C574F|LTBP1_uc010yna.1_Missense_Mutation_p.C521F	p.C901F	NM_206943	NP_996826	Q14766	LTBP1_HUMAN			16	2702	+	all_hematologic(175;0.115)	Medulloblastoma(90;0.215)	900			EGF-like 4; calcium-binding (Potential).		A1L3V1|P22064|Q53SD8|Q53SF3|Q53SG1|Q59HF7|Q8TD95	Missense_Mutation	SNP	ENST00000404816.2	37	c.2702G>T	CCDS33177.2	.	.	.	.	.	.	.	.	.	.	G	16.70	3.194597	0.58017	.	.	ENSG00000049323	ENST00000404816;ENST00000354476;ENST00000390003;ENST00000418533;ENST00000402934;ENST00000404525;ENST00000407925;ENST00000468091	D;D;D;D;D;D;D;D	0.99942	-4.2;-4.2;-8.46;-4.2;-2.51;-4.54;-8.46;-5.74	5.52	5.52	0.82312	EGF-like region, conserved site (1);EGF-like calcium-binding (1);Epidermal growth factor-like, type 3 (1);	.	.	.	.	D	0.99953	0.9980	H	0.96430	3.82	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;0.999;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.97110	0.999;0.996;1.0;0.999;0.999;0.999	D	0.96272	0.9199	9	0.87932	D	0	.	19.7984	0.96495	0.0:0.0:1.0:0.0	.	900;574;521;574;575;901	Q14766;E7EV71;Q14766-3;Q14766-2;Q14766-5;Q14766-4	LTBP1_HUMAN;.;.;.;.;.	F	900;901;575;574;521;521;574;218	ENSP00000386043:C900F;ENSP00000346467:C901F;ENSP00000374653:C575F;ENSP00000393057:C574F;ENSP00000384373:C521F;ENSP00000385359:C521F;ENSP00000384091:C574F;ENSP00000417591:C218F	ENSP00000346467:C901F	C	+	2	0	LTBP1	33352308	1.000000	0.71417	1.000000	0.80357	0.159000	0.22180	8.122000	0.89584	2.753000	0.94483	0.467000	0.42956	TGC		PASS	0.343	LTBP1-014	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000326227.2	NM_206943		8	72	8	72	---	---	---	---
HEATR5B	54497	broad.mit.edu	37	2	37215788	37215788	+	Splice_Site	SNP	C	C	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr2:37215788C>A	ENST00000233099.5	-	35	6007		c.e35+1		HEATR5B_ENST00000354531.2_Splice_Site	NM_019024.1	NP_061897.1	Q9P2D3	HTR5B_HUMAN	HEAT repeat containing 5B							extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)		p.?(1)		breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|pancreas(1)|prostate(1)|skin(10)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	77		all_hematologic(82;0.21)				AATATACTTACTGTTTTGTTC	0.363																																						uc002rpp.1																			1	Unknown(1)		lung(1)	ovary(5)|skin(2)|breast(1)	8						c.e35+1		HEAT repeat containing 5B							52.0	51.0	52.0					2																	37215788		2203	4300	6503	SO:0001630	splice_region_variant	54497						binding	g.chr2:37215788C>A	AB037835	CCDS33181.1	2p22.2	2007-01-02			ENSG00000008869	ENSG00000008869			29273	protein-coding gene	gene with protein product						10718198	Standard	XM_005264379		Approved	KIAA1414, DKFZp686P15184	uc002rpp.1	Q9P2D3	OTTHUMG00000152158	ENST00000233099.5:c.5911+1G>T	2.37:g.37215788C>A						HEATR5B_uc002rpo.1_Splice_Site_p.R283_splice|HEATR5B_uc010ezy.1_Splice_Site_p.R466_splice	p.R1971_splice	NM_019024	NP_061897	Q9P2D3	HTR5B_HUMAN			35	6007	-		all_hematologic(82;0.21)						B5MDU8|Q7Z3B2|Q9NVL7	Splice_Site	SNP	ENST00000233099.5	37	c.5911_splice	CCDS33181.1	.	.	.	.	.	.	.	.	.	.	C	20.7	4.026373	0.75390	.	.	ENSG00000008869	ENST00000425467;ENST00000233099;ENST00000354531	.	.	.	5.27	5.27	0.74061	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.2547	0.93941	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	HEATR5B	37069292	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	7.528000	0.81941	2.616000	0.88540	0.484000	0.47621	.		PASS	0.363	HEATR5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325492.1	NM_019024	Intron	43	46	43	46	---	---	---	---
SOS1	6654	broad.mit.edu	37	2	39251238	39251238	+	Missense_Mutation	SNP	C	C	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr2:39251238C>A	ENST00000426016.1	-	10	1201	c.1115G>T	c.(1114-1116)tGt>tTt	p.C372F	SOS1_ENST00000402219.2_Missense_Mutation_p.C372F|SOS1_ENST00000428721.2_3'UTR|SOS1_ENST00000395038.2_Missense_Mutation_p.C372F|SOS1_ENST00000472480.1_5'Flank			Q07889	SOS1_HUMAN	son of sevenless homolog 1 (Drosophila)	372	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				apoptotic signaling pathway (GO:0097190)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|positive regulation of apoptotic process (GO:0043065)|positive regulation of epidermal growth factor receptor signaling pathway (GO:0045742)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of small GTPase mediated signal transduction (GO:0051057)|Ras protein signal transduction (GO:0007265)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	DNA binding (GO:0003677)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)|Rho GTPase activator activity (GO:0005100)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.C372F(1)		autonomic_ganglia(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|liver(1)|lung(29)|ovary(4)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	75		all_hematologic(82;0.21)				TTGTTTTAAACATTCCTTGTC	0.299									Noonan syndrome																													uc002rrk.3																			1	Substitution - Missense(1)		lung(1)	ovary(4)|breast(3)|lung(2)|central_nervous_system(1)	10						c.(1114-1116)TGT>TTT		son of sevenless homolog 1							186.0	170.0	176.0					2																	39251238		2200	4299	6499	SO:0001583	missense	6654	Noonan_syndrome	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome	apoptosis|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|induction of apoptosis by extracellular signals|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	cytosol	DNA binding|protein binding|Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity	g.chr2:39251238C>A	L13857	CCDS1802.1	2p21	2014-09-17	2002-11-05		ENSG00000115904	ENSG00000115904		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	11187	protein-coding gene	gene with protein product		182530	"""gingival fibromatosis, hereditary, 1"""	GINGF		8276400, 10995566	Standard	NM_005633		Approved	HGF, GF1	uc002rrk.4	Q07889	OTTHUMG00000102109	ENST00000426016.1:c.1115G>T	2.37:g.39251238C>A	ENSP00000387784:p.Cys372Phe					SOS1_uc010ynr.1_RNA|SOS1_uc002rrj.3_5'UTR|SOS1_uc002rrl.2_Missense_Mutation_p.C104F	p.C372F	NM_005633	NP_005624	Q07889	SOS1_HUMAN			9	1156	-		all_hematologic(82;0.21)	372			DH.		A8K2G3|B4DXG2	Missense_Mutation	SNP	ENST00000426016.1	37	c.1115G>T	CCDS1802.1	.	.	.	.	.	.	.	.	.	.	C	16.83	3.232094	0.58777	.	.	ENSG00000115904	ENST00000426016;ENST00000402219;ENST00000543698;ENST00000395038;ENST00000263879	T;T;T	0.62788	0.0;0.0;0.0	5.86	4.99	0.66335	Dbl homology (DH) domain (5);	0.000000	0.85682	D	0.000000	T	0.76350	0.3975	M	0.63428	1.95	0.80722	D	1	D;D	0.89917	0.998;1.0	D;D	0.79784	0.966;0.993	T	0.78833	-0.2048	10	0.66056	D	0.02	.	14.9545	0.71101	0.0:0.9318:0.0:0.0682	.	104;372	F5GX06;Q07889	.;SOS1_HUMAN	F	372;372;104;372;372	ENSP00000387784:C372F;ENSP00000384675:C372F;ENSP00000378479:C372F	ENSP00000263879:C372F	C	-	2	0	SOS1	39104742	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.380000	0.79704	1.493000	0.48517	0.650000	0.86243	TGT		PASS	0.299	SOS1-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219948.3	NM_005633		16	84	16	84	---	---	---	---
SLC8A1	6546	broad.mit.edu	37	2	40401970	40401970	+	Missense_Mutation	SNP	A	A	G			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr2:40401970A>G	ENST00000403092.1	-	5	1982	c.1949T>C	c.(1948-1950)aTa>aCa	p.I650T	SLC8A1-AS1_ENST00000599740.1_RNA|SLC8A1-AS1_ENST00000599268.1_RNA|SLC8A1-AS1_ENST00000599956.1_RNA|SLC8A1-AS1_ENST00000593878.1_RNA|SLC8A1_ENST00000542756.1_Missense_Mutation_p.I650T|SLC8A1-AS1_ENST00000444629.1_RNA|SLC8A1_ENST00000406391.2_Missense_Mutation_p.I642T|SLC8A1_ENST00000332839.4_Missense_Mutation_p.I650T|SLC8A1-AS1_ENST00000597170.1_RNA|SLC8A1-AS1_ENST00000435515.1_RNA|SLC8A1-AS1_ENST00000601679.1_RNA|SLC8A1_ENST00000402441.1_Missense_Mutation_p.I642T|SLC8A1_ENST00000405269.1_Missense_Mutation_p.I642T|SLC8A1_ENST00000408028.2_Missense_Mutation_p.I642T|SLC8A1_ENST00000406785.2_Missense_Mutation_p.I642T|SLC8A1-AS1_ENST00000598247.1_RNA|SLC8A1_ENST00000542024.1_Intron|SLC8A1-AS1_ENST00000593848.1_RNA|SLC8A1-AS1_ENST00000597385.1_RNA|SLC8A1_ENST00000405901.3_Missense_Mutation_p.I650T|SLC8A1-AS1_ENST00000596532.1_RNA			P32418	NAC1_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 1	650					blood coagulation (GO:0007596)|calcium ion export (GO:1901660)|calcium ion homeostasis (GO:0055074)|calcium ion import (GO:0070509)|calcium ion transport into cytosol (GO:0060402)|cardiac muscle cell development (GO:0055013)|cardiac muscle contraction (GO:0060048)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular response to caffeine (GO:0071313)|cellular response to reactive oxygen species (GO:0034614)|cellular sodium ion homeostasis (GO:0006883)|cytosolic calcium ion transport (GO:0060401)|embryonic heart tube development (GO:0035050)|embryonic placenta development (GO:0001892)|heart morphogenesis (GO:0003007)|ion transport (GO:0006811)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|muscle contraction (GO:0006936)|muscle fiber development (GO:0048747)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|post-embryonic development (GO:0009791)|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 the force of heart contraction (GO:0002026)|relaxation of cardiac muscle (GO:0055119)|relaxation of smooth muscle (GO:0044557)|sodium ion export (GO:0071436)|sodium ion import (GO:0097369)|transmembrane transport (GO:0055085)|vascular smooth muscle contraction (GO:0014829)	basolateral plasma membrane (GO:0016323)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)	ankyrin binding (GO:0030506)|calcium:sodium antiporter activity (GO:0005432)|cytoskeletal protein binding (GO:0008092)|ion channel binding (GO:0044325)|metal ion binding (GO:0046872)	p.I650T(1)		NS(1)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|liver(1)|lung(57)|ovary(2)|pancreas(1)|skin(7)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)	100					Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159)	CATACCTGTTATTGTGAAGCC	0.308																																						uc002rrx.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|kidney(1)|central_nervous_system(1)|skin(1)	4						c.(1948-1950)ATA>ACA		solute carrier family 8 (sodium/calcium	Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159)						49.0	57.0	54.0					2																	40401970		2194	4292	6486	SO:0001583	missense	6546				cell communication|muscle contraction|platelet activation	integral to plasma membrane	calcium:sodium antiporter activity|calmodulin binding|heat shock protein binding	g.chr2:40401970A>G		CCDS1806.1, CCDS46264.1, CCDS46265.1, CCDS59430.1	2p22.1	2013-07-15			ENSG00000183023	ENSG00000183023		"""Solute carriers"""	11068	protein-coding gene	gene with protein product	"""Na+/Ca++ exchanger"""	182305		NCX1		1559714	Standard	NM_021097		Approved		uc002rrx.3	P32418	OTTHUMG00000102183	ENST00000403092.1:c.1949T>C	2.37:g.40401970A>G	ENSP00000384763:p.Ile650Thr					uc002rrw.2_Intron|SLC8A1_uc002rry.2_Missense_Mutation_p.I650T|SLC8A1_uc002rrz.2_Missense_Mutation_p.I642T|SLC8A1_uc002rsa.2_Missense_Mutation_p.I642T|SLC8A1_uc002rsd.3_Missense_Mutation_p.I642T|SLC8A1_uc002rsb.1_Missense_Mutation_p.I642T	p.I650T	NM_021097	NP_066920	P32418	NAC1_HUMAN			4	1973	-			650			Cytoplasmic (Potential).		A8K6N1|D6W595|O95849|Q4QQG6|Q587I6|Q59GN4|Q9UBL8|Q9UD55|Q9UDN1|Q9UDN2|Q9UKX6	Missense_Mutation	SNP	ENST00000403092.1	37	c.1949T>C	CCDS1806.1	.	.	.	.	.	.	.	.	.	.	A	13.25	2.179923	0.38511	.	.	ENSG00000183023	ENST00000406785;ENST00000378715;ENST00000542756;ENST00000403092;ENST00000405901;ENST00000402441;ENST00000405269;ENST00000332839;ENST00000408028;ENST00000406391	T;T;T;T;T;T;T;T;T	0.32272	1.46;1.67;1.69;1.67;1.46;1.46;1.69;1.65;1.46	5.92	5.92	0.95590	.	0.682368	0.13218	N	0.404581	T	0.20901	0.0503	N	0.12182	0.205	0.80722	D	1	B;B;B;B;B	0.16802	0.019;0.002;0.019;0.009;0.018	B;B;B;B;B	0.21151	0.022;0.033;0.022;0.015;0.013	T	0.08973	-1.0696	10	0.27082	T	0.32	.	14.3302	0.66550	1.0:0.0:0.0:0.0	.	642;642;642;650;650	P32418-4;P32418-2;P32418-3;F6VPY9;P32418	.;.;.;.;NAC1_HUMAN	T	642;650;650;650;650;642;642;650;642;642	ENSP00000383886:I642T;ENSP00000440727:I650T;ENSP00000384763:I650T;ENSP00000385678:I650T;ENSP00000385188:I642T;ENSP00000385535:I642T;ENSP00000332931:I650T;ENSP00000384908:I642T;ENSP00000385811:I642T	ENSP00000332931:I650T	I	-	2	0	SLC8A1	40255474	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.587000	0.60991	2.277000	0.76020	0.528000	0.53228	ATA		PASS	0.308	SLC8A1-010	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326065.1	NM_021097		27	129	27	129	---	---	---	---
THADA	63892	broad.mit.edu	37	2	43804212	43804212	+	Missense_Mutation	SNP	C	C	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr2:43804212C>A	ENST00000405006.4	-	10	1337	c.986G>T	c.(985-987)gGg>gTg	p.G329V	THADA_ENST00000402360.2_Missense_Mutation_p.G329V|THADA_ENST00000405975.2_Missense_Mutation_p.G329V|THADA_ENST00000404790.1_Missense_Mutation_p.G329V|THADA_ENST00000415080.2_Missense_Mutation_p.G39V|THADA_ENST00000403856.1_Missense_Mutation_p.G329V|THADA_ENST00000330266.7_Missense_Mutation_p.G39V	NM_001083953.1|NM_001271643.1	NP_001077422.1|NP_001258572.1	Q6YHU6	THADA_HUMAN	thyroid adenoma associated	329								p.G329V(1)		breast(1)|endometrium(9)|kidney(5)|large_intestine(9)|liver(1)|lung(28)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	66		Acute lymphoblastic leukemia(82;0.00361)|all_hematologic(82;0.00837)				CAGGGCCTCCCCACTCCGACC	0.478											OREG0014580	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc002rsw.3																			1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(1)	3						c.(985-987)GGG>GTG		thyroid adenoma associated							69.0	72.0	71.0					2																	43804212		1979	4162	6141	SO:0001583	missense	63892						binding	g.chr2:43804212C>A	AY149629	CCDS46268.1, CCDS62901.1, CCDS62902.1	2p21	2008-02-05			ENSG00000115970	ENSG00000115970			19217	protein-coding gene	gene with protein product		611800				12063398, 11214970	Standard	NM_022065		Approved	FLJ21877, KIAA1767, GITA	uc002rsx.4	Q6YHU6	OTTHUMG00000152398	ENST00000405006.4:c.986G>T	2.37:g.43804212C>A	ENSP00000385995:p.Gly329Val		OREG0014580	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	919	THADA_uc002rsx.3_Missense_Mutation_p.G329V|THADA_uc002rsy.3_RNA|THADA_uc010fas.1_5'Flank|THADA_uc002rsz.2_Missense_Mutation_p.G39V|THADA_uc002rta.2_Missense_Mutation_p.G39V|THADA_uc002rtb.1_Missense_Mutation_p.G329V|THADA_uc002rtc.3_Missense_Mutation_p.G329V|THADA_uc002rtd.2_Missense_Mutation_p.G329V	p.G329V	NM_001083953	NP_001077422	Q6YHU6	THADA_HUMAN			10	1338	-		Acute lymphoblastic leukemia(82;0.00361)|all_hematologic(82;0.00837)	329					A8K1V8|B7WNS6|Q3KR04|Q53RC6|Q53TB2|Q6YHU2|Q6ZU38|Q8IY32|Q8TAU8|Q96I88|Q9BZF7|Q9C096|Q9H6U0|Q9H6W7	Missense_Mutation	SNP	ENST00000405006.4	37	c.986G>T	CCDS46268.1	.	.	.	.	.	.	.	.	.	.	C	10.17	1.277839	0.23307	.	.	ENSG00000115970	ENST00000330266;ENST00000405975;ENST00000356975;ENST00000415080;ENST00000405006;ENST00000402360;ENST00000404790;ENST00000403856	T;T;T;T;T;T;T	0.33216	1.5;2.9;2.74;2.9;1.47;1.46;1.42	5.55	4.67	0.58626	.	0.472937	0.24233	N	0.040333	T	0.33089	0.0851	M	0.64997	1.995	0.49582	D	0.999801	P;B;B;B;B	0.35656	0.514;0.17;0.13;0.069;0.18	B;B;B;B;B	0.39339	0.297;0.067;0.038;0.012;0.031	T	0.07252	-1.0782	10	0.33940	T	0.23	-0.9156	9.9631	0.41708	0.1384:0.7897:0.0:0.0719	.	329;329;329;39;329	B5MC89;Q8IY32;Q6YHU6-5;C9JJB1;Q6YHU6	.;.;.;.;THADA_HUMAN	V	39;329;329;39;329;329;329;329	ENSP00000331105:G39V;ENSP00000386088:G329V;ENSP00000416048:G39V;ENSP00000385995:G329V;ENSP00000385441:G329V;ENSP00000384266:G329V;ENSP00000385469:G329V	ENSP00000331105:G39V	G	-	2	0	THADA	43657716	0.756000	0.28383	0.812000	0.32479	0.209000	0.24338	1.600000	0.36762	1.337000	0.45525	0.561000	0.74099	GGG		PASS	0.478	THADA-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326070.3	NM_022065		17	22	17	22	---	---	---	---
PLEKHH2	130271	broad.mit.edu	37	2	43937155	43937155	+	Missense_Mutation	SNP	G	G	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr2:43937155G>A	ENST00000282406.4	+	12	2103	c.1993G>A	c.(1993-1995)Gaa>Aaa	p.E665K		NM_172069.3	NP_742066.2	Q8IVE3	PKHH2_HUMAN	pleckstrin homology domain containing, family H (with MyTH4 domain) member 2	665	Ser-rich.				negative regulation of actin filament depolymerization (GO:0030835)	cortical actin cytoskeleton (GO:0030864)|cytoplasm (GO:0005737)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)	actin binding (GO:0003779)	p.E665K(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(12)|lung(24)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	56		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)				TGTGGCTTCTGAAAGTGATTA	0.458																																						uc010yny.1																			1	Substitution - Missense(1)		lung(1)	skin(2)|central_nervous_system(1)	3						c.(1993-1995)GAA>AAA		pleckstrin homology domain containing, family H							177.0	170.0	172.0					2																	43937155		2203	4300	6503	SO:0001583	missense	130271					cytoplasm|cytoskeleton|integral to membrane	binding	g.chr2:43937155G>A	AB095948	CCDS1812.1	2p22	2013-01-10			ENSG00000152527	ENSG00000152527		"""Pleckstrin homology (PH) domain containing"""	30506	protein-coding gene	gene with protein product		612723					Standard	NM_172069		Approved	KIAA2028, PLEKHH1L	uc010yny.2	Q8IVE3	OTTHUMG00000128657	ENST00000282406.4:c.1993G>A	2.37:g.43937155G>A	ENSP00000282406:p.Glu665Lys					PLEKHH2_uc002rte.3_Missense_Mutation_p.E665K|PLEKHH2_uc002rtf.3_Missense_Mutation_p.E664K	p.E665K	NM_172069	NP_742066	Q8IVE3	PKHH2_HUMAN			12	2076	+		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)	665			Ser-rich.		Q5JPJ6|Q6P4Q1|Q8N3Q3	Missense_Mutation	SNP	ENST00000282406.4	37	c.1993G>A	CCDS1812.1	.	.	.	.	.	.	.	.	.	.	G	21.7	4.194124	0.78902	.	.	ENSG00000152527	ENST00000282406	T	0.75589	-0.95	5.23	5.23	0.72850	.	0.346472	0.32533	N	0.005963	T	0.77644	0.4161	L	0.41492	1.28	0.58432	D	0.999996	P;P;D	0.55385	0.92;0.787;0.971	P;B;P	0.53401	0.694;0.254;0.725	T	0.80346	-0.1421	10	0.72032	D	0.01	-11.6976	18.7989	0.92008	0.0:0.0:1.0:0.0	.	665;102;665	Q8IVE3;Q8IVE3-2;Q8IVE3-3	PKHH2_HUMAN;.;.	K	665	ENSP00000282406:E665K	ENSP00000282406:E665K	E	+	1	0	PLEKHH2	43790659	1.000000	0.71417	0.999000	0.59377	0.993000	0.82548	9.355000	0.97087	2.423000	0.82170	0.563000	0.77884	GAA		PASS	0.458	PLEKHH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250537.1	NM_172069		42	234	42	234	---	---	---	---
NRXN1	9378	broad.mit.edu	37	2	50724472	50724472	+	Splice_Site	SNP	C	C	G			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr2:50724472C>G	ENST00000406316.2	-	14	4354	c.2878G>C	c.(2878-2880)Ggg>Cgg	p.G960R	NRXN1_ENST00000405472.3_Splice_Site_p.G952R|NRXN1_ENST00000401710.1_5'Flank|NRXN1_ENST00000402717.3_Splice_Site_p.G952R|NRXN1_ENST00000331040.5_5'UTR|NRXN1_ENST00000404971.1_Splice_Site_p.G1000R|NRXN1_ENST00000401669.2_Splice_Site_p.G960R|NRXN1_ENST00000406859.3_Splice_Site_p.G960R	NM_004801.4	NP_004792.1	Q9ULB1	NRX1A_HUMAN	neurexin 1	960	Laminin G-like 5. {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.G960R(1)|p.G1001R(1)|p.G1000R(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)			TGTACTCACCCTTTAACTAAT	0.328																																						uc010fbq.2																			3	Substitution - Missense(3)		lung(3)	ovary(2)	2						c.(2998-3000)GGG>CGG		neurexin 1 isoform alpha2 precursor							60.0	59.0	59.0					2																	50724472		1849	4096	5945	SO:0001630	splice_region_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.chr2:50724472C>G	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.2879+1G>C	2.37:g.50724472C>G						NRXN1_uc002rxb.3_Missense_Mutation_p.G632R|NRXN1_uc002rxe.3_Missense_Mutation_p.G960R|NRXN1_uc002rxc.1_RNA	p.G1000R	NM_001135659	NP_001129131	P58400	NRX1B_HUMAN	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)		14	4475	-		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	150			Extracellular (Potential).|Laminin G-like.		A7KRL9|O60323|Q53TJ9|Q53TQ1|Q9C079|Q9C080|Q9C081|Q9H3M2|Q9UDM6	Missense_Mutation	SNP	ENST00000406316.2	37	c.2998G>C	CCDS54360.1	.	.	.	.	.	.	.	.	.	.	C	28.4	4.917023	0.92249	.	.	ENSG00000179915	ENST00000404971;ENST00000406316;ENST00000405472;ENST00000401669;ENST00000536085;ENST00000402717;ENST00000406859	D;D;D;D;D;D	0.88201	-2.35;-2.35;-2.35;-2.35;-2.35;-2.35	5.58	5.58	0.84498	.	0.097511	0.64402	D	0.000001	D	0.95185	0.8439	M	0.84585	2.705	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.988	D;D;P	0.74348	0.983;0.98;0.905	D	0.95165	0.8285	10	0.87932	D	0	.	19.769	0.96353	0.0:1.0:0.0:0.0	.	1000;960;952	Q9ULB1-3;F8WB18;A7E294	.;.;.	R	1000;960;952;960;1001;952;960	ENSP00000385142:G1000R;ENSP00000384311:G960R;ENSP00000434015:G952R;ENSP00000385017:G960R;ENSP00000385434:G952R;ENSP00000385681:G960R	ENSP00000385017:G960R	G	-	1	0	NRXN1	50577976	1.000000	0.71417	1.000000	0.80357	0.942000	0.58702	7.651000	0.83577	2.906000	0.99361	0.655000	0.94253	GGG		PASS	0.328	NRXN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000325291.2		Missense_Mutation	38	59	38	59	---	---	---	---
UGP2	7360	broad.mit.edu	37	2	64083466	64083466	+	Missense_Mutation	SNP	G	G	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr2:64083466G>T	ENST00000337130.5	+	2	522	c.46G>T	c.(46-48)Ggt>Tgt	p.G16C	UGP2_ENST00000487469.1_Intron|UGP2_ENST00000445915.2_Missense_Mutation_p.G25C|UGP2_ENST00000467648.2_Missense_Mutation_p.G5C|UGP2_ENST00000394417.2_Missense_Mutation_p.G5C	NM_006759.3	NP_006750.3	Q16851	UGPA_HUMAN	UDP-glucose pyrophosphorylase 2	16					carbohydrate metabolic process (GO:0005975)|cellular glucuronidation (GO:0052695)|glucose 1-phosphate metabolic process (GO:0019255)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|small molecule metabolic process (GO:0044281)|UDP-glucose metabolic process (GO:0006011)|UDP-glucuronate biosynthetic process (GO:0006065)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	glucose binding (GO:0005536)|metal ion binding (GO:0046872)|pyrimidine ribonucleotide binding (GO:0032557)|UTP:glucose-1-phosphate uridylyltransferase activity (GO:0003983)	p.G16C(1)		endometrium(2)|kidney(1)|large_intestine(8)|lung(6)|prostate(1)	18						GTCTCAAGATGGTGCTTCTCA	0.378																																						uc002scm.2																			1	Substitution - Missense(1)		lung(1)		0						c.(46-48)GGT>TGT		UDP-glucose pyrophosphorylase 2 isoform a							172.0	174.0	173.0					2																	64083466		2203	4300	6503	SO:0001583	missense	7360				glycogen biosynthetic process|phosphorylation|UDP-glucose metabolic process|UDP-glucuronate biosynthetic process|xenobiotic metabolic process	cytosol	metal ion binding|protein binding|UTP:glucose-1-phosphate uridylyltransferase activity	g.chr2:64083466G>T		CCDS1875.1, CCDS42690.1	2p14-p13	2012-10-02			ENSG00000169764	ENSG00000169764	2.7.7.9		12527	protein-coding gene	gene with protein product		191760	"""UDP-glucose pyrophosphorylase 1"""	UGP1			Standard	NM_006759		Approved	UGPP1	uc002scm.3	Q16851	OTTHUMG00000129513	ENST00000337130.5:c.46G>T	2.37:g.64083466G>T	ENSP00000338703:p.Gly16Cys					UGP2_uc002scl.2_Missense_Mutation_p.G5C|UGP2_uc010ypx.1_Missense_Mutation_p.G25C	p.G16C	NM_006759	NP_006750	Q16851	UGPA_HUMAN			2	352	+			16					Q07131|Q0P6K2|Q86Y81|Q9BU15	Missense_Mutation	SNP	ENST00000337130.5	37	c.46G>T	CCDS1875.1	.	.	.	.	.	.	.	.	.	.	G	27.5	4.834139	0.91036	.	.	ENSG00000169764	ENST00000394417;ENST00000484142;ENST00000482668;ENST00000467648;ENST00000480679;ENST00000337130;ENST00000488245;ENST00000497883;ENST00000445915;ENST00000475462;ENST00000491621;ENST00000472047	T;T;T;T	0.49139	0.79;0.79;1.98;0.84	6.08	6.08	0.98989	.	0.000000	0.85682	D	0.000000	T	0.47210	0.1433	N	0.24115	0.695	0.80722	D	1	D;P	0.54397	0.966;0.939	P;P	0.49502	0.613;0.518	T	0.45789	-0.9237	10	0.62326	D	0.03	-35.6738	19.4349	0.94788	0.0:0.0:1.0:0.0	.	25;16	E7EUC7;Q16851	.;UGPA_HUMAN	C	5;16;5;5;5;16;5;8;25;5;5;5	ENSP00000377939:G5C;ENSP00000420793:G5C;ENSP00000338703:G16C;ENSP00000411803:G25C	ENSP00000338703:G16C	G	+	1	0	UGP2	63936970	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	5.843000	0.69424	2.894000	0.99253	0.655000	0.94253	GGT		PASS	0.378	UGP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251688.1	NM_006759		67	189	67	189	---	---	---	---
AAK1	22848	broad.mit.edu	37	2	69771660	69771660	+	Missense_Mutation	SNP	T	T	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr2:69771660T>A	ENST00000409085.4	-	4	675	c.299A>T	c.(298-300)cAc>cTc	p.H100L	AAK1_ENST00000406297.3_Missense_Mutation_p.H100L|AAK1_ENST00000470281.1_5'Flank|AAK1_ENST00000409068.1_Missense_Mutation_p.H100L	NM_014911.3	NP_055726	Q2M2I8	AAK1_HUMAN	AP2 associated kinase 1	100	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				endocytosis (GO:0006897)|positive regulation of Notch signaling pathway (GO:0045747)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|protein stabilization (GO:0050821)|regulation of clathrin-mediated endocytosis (GO:2000369)|regulation of protein localization (GO:0032880)	cell leading edge (GO:0031252)|clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|extrinsic component of plasma membrane (GO:0019897)|terminal bouton (GO:0043195)	AP-2 adaptor complex binding (GO:0035612)|ATP binding (GO:0005524)|Notch binding (GO:0005112)|protein serine/threonine kinase activity (GO:0004674)	p.H100L(2)		NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|prostate(1)	17						AATATTCTTGTGCCCTGAAAG	0.398																																						uc002sfp.2																			2	Substitution - Missense(2)		lung(2)		0						c.(298-300)CAC>CTC		AP2 associated kinase 1							141.0	129.0	133.0					2																	69771660		1919	4135	6054	SO:0001583	missense	22848					coated pit|mitochondrion|plasma membrane	ATP binding|protein serine/threonine kinase activity	g.chr2:69771660T>A	AB028971	CCDS1893.2	2p13.3	2012-07-10			ENSG00000115977	ENSG00000115977			19679	protein-coding gene	gene with protein product						11877461, 12471243	Standard	NM_014911		Approved	KIAA1048, DKFZp686K16132	uc002sfp.2	Q2M2I8	OTTHUMG00000129648	ENST00000409085.4:c.299A>T	2.37:g.69771660T>A	ENSP00000386456:p.His100Leu					AAK1_uc010fdk.2_Missense_Mutation_p.H100L|AAK1_uc010yqm.1_Missense_Mutation_p.H100L|AAK1_uc010fdm.1_Missense_Mutation_p.H100L	p.H100L	NM_014911	NP_055726	Q2M2I8	AAK1_HUMAN			4	804	-			100			Protein kinase.		Q4ZFZ3|Q53RX6|Q9UPV4	Missense_Mutation	SNP	ENST00000409085.4	37	c.299A>T	CCDS1893.2	.	.	.	.	.	.	.	.	.	.	T	28.3	4.907018	0.92107	.	.	ENSG00000115977	ENST00000409068;ENST00000409085;ENST00000406297	T;T;T	0.78481	-1.18;-1.18;-1.18	5.55	5.55	0.83447	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.138018	0.64402	D	0.000003	D	0.91088	0.7195	H	0.94462	3.54	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;0.993	D;D;D;P	0.85130	0.997;0.997;0.991;0.871	D	0.93318	0.6690	10	0.87932	D	0	-22.3308	14.6643	0.68896	0.0:0.0:0.0:1.0	.	100;100;100;100	B7ZLC4;D6W5G0;Q2M2I8-2;Q2M2I8	.;.;.;AAK1_HUMAN	L	100	ENSP00000386342:H100L;ENSP00000386456:H100L;ENSP00000385181:H100L	ENSP00000385181:H100L	H	-	2	0	AAK1	69625164	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.669000	0.83911	2.333000	0.79357	0.533000	0.62120	CAC		PASS	0.398	AAK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251847.4	NM_014911		24	47	24	47	---	---	---	---
ASPRV1	151516	broad.mit.edu	37	2	70187792	70187792	+	Missense_Mutation	SNP	G	G	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr2:70187792G>T	ENST00000320256.4	-	1	1605	c.1029C>A	c.(1027-1029)caC>caA	p.H343Q	PCBP1-AS1_ENST00000418564.1_RNA|PCBP1-AS1_ENST00000413436.1_RNA|PCBP1-AS1_ENST00000596259.1_RNA|PCBP1-AS1_ENST00000435880.2_RNA|PCBP1-AS1_ENST00000419542.1_RNA|PCBP1-AS1_ENST00000457076.1_RNA	NM_152792.2	NP_690005.2			aspartic peptidase, retroviral-like 1									p.H343Q(1)		endometrium(3)|large_intestine(4)|lung(6)|ovary(1)	14						TGGCTTCTCAGTGGGATAGCT	0.572																																						uc002sfz.3																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1027-1029)CAC>CAA		aspartic peptidase, retroviral-like 1 precursor							56.0	61.0	60.0					2																	70187792		2203	4300	6503	SO:0001583	missense	151516				protein maturation by peptide bond cleavage|skin development		aspartic-type endopeptidase activity	g.chr2:70187792G>T	AK055994	CCDS1897.1	2p13.3	2008-02-20			ENSG00000244617	ENSG00000244617			26321	protein-coding gene	gene with protein product	"""Skin ASpartic Protease"""	611765				16098038, 16565508	Standard	NM_152792		Approved	Taps, SASPase, FLJ25084	uc002sfz.4	Q53RT3	OTTHUMG00000129647	ENST00000320256.4:c.1029C>A	2.37:g.70187792G>T	ENSP00000315383:p.His343Gln						p.H343Q	NM_152792	NP_690005	Q53RT3	APRV1_HUMAN			1	1606	-			343			Extracellular (Potential).			Missense_Mutation	SNP	ENST00000320256.4	37	c.1029C>A	CCDS1897.1	.	.	.	.	.	.	.	.	.	.	G	11.91	1.780323	0.31502	.	.	ENSG00000244617	ENST00000320256	T	0.45276	0.9	4.55	-5.88	0.02290	.	.	.	.	.	T	0.24198	0.0586	N	0.08118	0	0.09310	N	1	B	0.33379	0.41	B	0.35550	0.205	T	0.28618	-1.0038	9	0.87932	D	0	.	15.2206	0.73308	0.2196:0.0:0.7804:0.0	.	343	Q53RT3	APRV1_HUMAN	Q	343	ENSP00000315383:H343Q	ENSP00000315383:H343Q	H	-	3	2	ASPRV1	70041296	0.000000	0.05858	0.002000	0.10522	0.249000	0.25844	-2.042000	0.01414	-1.091000	0.03065	-0.140000	0.14226	CAC		PASS	0.572	ASPRV1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334161.1	NM_152792		33	91	33	91	---	---	---	---
CTNNA2	1496	broad.mit.edu	37	2	79878772	79878772	+	Silent	SNP	A	A	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr2:79878772A>T	ENST00000402739.4	+	1	95	c.90A>T	c.(88-90)ccA>ccT	p.P30P	CTNNA2_ENST00000409266.1_Silent_p.P30P|CTNNA2_ENST00000466387.1_Silent_p.P30P|CTNNA2_ENST00000361291.4_Silent_p.P64P|CTNNA2_ENST00000540488.1_Silent_p.P30P|CTNNA2_ENST00000541047.1_Silent_p.P30P|MIR4264_ENST00000583520.1_RNA|CTNNA2_ENST00000496558.1_Silent_p.P30P	NM_001282597.1	NP_001269526.1	P26232	CTNA2_HUMAN	catenin (cadherin-associated protein), alpha 2	30					axonogenesis (GO:0007409)|brain morphogenesis (GO:0048854)|dendrite morphogenesis (GO:0048813)|muscle cell differentiation (GO:0042692)|positive regulation of muscle cell differentiation (GO:0051149)|prepulse inhibition (GO:0060134)|radial glia guided migration of Purkinje cell (GO:0021942)|regulation of synapse structural plasticity (GO:0051823)|single organismal cell-cell adhesion (GO:0016337)	actin cytoskeleton (GO:0015629)|adherens junction (GO:0005912)|axon (GO:0030424)|basolateral plasma membrane (GO:0016323)|cell-cell adherens junction (GO:0005913)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|lamellipodium (GO:0030027)	structural constituent of cytoskeleton (GO:0005200)	p.P30P(4)		breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(49)|pancreas(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	78						TGTTGGAGCCACTTGTTACAC	0.413																																						uc010ysh.1																			4	Substitution - coding silent(4)		lung(4)	pancreas(4)|lung(3)|breast(1)|skin(1)	9						c.(88-90)CCA>CCT		catenin, alpha 2 isoform 1							78.0	76.0	77.0					2																	79878772		1864	4103	5967	SO:0001819	synonymous_variant	1496				axonogenesis|brain morphogenesis|cell-cell adhesion|dendrite morphogenesis|muscle cell differentiation|positive regulation of muscle cell differentiation|prepulse inhibition|radial glia guided migration of Purkinje cell|regulation of synapse structural plasticity	actin cytoskeleton|axon|cytosol	cadherin binding|structural constituent of cytoskeleton	g.chr2:79878772A>T		CCDS42703.2, CCDS62944.1, CCDS62945.1, CCDS74531.1	2p12-p11.1	2010-05-04			ENSG00000066032	ENSG00000066032			2510	protein-coding gene	gene with protein product	"""cadherin-associated protein, related"", ""cancer/testis antigen 114"""	114025				8432524	Standard	NM_004389		Approved	CAP-R, CT114	uc010ysf.2	P26232	OTTHUMG00000152903	ENST00000402739.4:c.90A>T	2.37:g.79878772A>T						CTNNA2_uc010yse.1_Silent_p.P30P|CTNNA2_uc010ysf.1_Silent_p.P30P|CTNNA2_uc010ysg.1_Silent_p.P30P|hsa-mir-4264|MI0015877_5'Flank	p.P30P	NM_004389	NP_004380	P26232	CTNA2_HUMAN			1	95	+			30					B3KXE5|B7Z2W7|B7Z352|B7Z898|Q4ZFW1|Q53R26|Q53R33|Q53T67|Q53T71|Q53TM8|Q7Z3L1|Q7Z3Y0	Silent	SNP	ENST00000402739.4	37	c.90A>T																																																																																					PASS	0.413	CTNNA2-003	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000328511.4	NM_004389		25	38	25	38	---	---	---	---
POLR1A	25885	broad.mit.edu	37	2	86297336	86297336	+	Silent	SNP	G	G	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr2:86297336G>A	ENST00000263857.6	-	13	2049	c.1671C>T	c.(1669-1671)caC>caT	p.H557H	POLR1A_ENST00000409681.1_Silent_p.H557H			O95602	RPA1_HUMAN	polymerase (RNA) I polypeptide A, 194kDa	557					gene expression (GO:0010467)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription from RNA polymerase I promoter (GO:0006360)|transcription initiation from RNA polymerase I promoter (GO:0006361)	cytoplasm (GO:0005737)|DNA-directed RNA polymerase I complex (GO:0005736)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)|zinc ion binding (GO:0008270)	p.H557H(1)		NS(1)|breast(4)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(12)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	63						TGGAGGGTCTGTGCAGTGTGG	0.572																																						uc002sqs.2																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|skin(1)	3						c.(1669-1671)CAC>CAT		DNA-directed RNA polymerase I A							73.0	82.0	79.0					2																	86297336		2143	4234	6377	SO:0001819	synonymous_variant	25885				termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter	DNA-directed RNA polymerase I complex|nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|protein binding|zinc ion binding	g.chr2:86297336G>A	AK025568	CCDS42706.1	2p11.2	2013-01-21			ENSG00000068654	ENSG00000068654		"""RNA polymerase subunits"""	17264	protein-coding gene	gene with protein product						9236775	Standard	NM_015425		Approved	DKFZP586M0122, FLJ21915, RPO1-4, RPA1	uc002sqs.3	O95602	OTTHUMG00000153165	ENST00000263857.6:c.1671C>T	2.37:g.86297336G>A							p.H557H	NM_015425	NP_056240	O95602	RPA1_HUMAN			13	2050	-			557					B7Z7T0|D6W5M0|Q0VG05|Q9UEH0|Q9UFT9	Silent	SNP	ENST00000263857.6	37	c.1671C>T	CCDS42706.1																																																																																				PASS	0.572	POLR1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329830.2	NM_015425		31	34	31	34	---	---	---	---
EIF2AK3	9451	broad.mit.edu	37	2	88879056	88879056	+	Missense_Mutation	SNP	C	C	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr2:88879056C>A	ENST00000303236.3	-	11	2167	c.1866G>T	c.(1864-1866)aaG>aaT	p.K622N	EIF2AK3_ENST00000419748.1_Missense_Mutation_p.K471N	NM_004836.5	NP_004827.4	Q9NZJ5	E2AK3_HUMAN	eukaryotic translation initiation factor 2-alpha kinase 3	622	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of signaling protein activity involved in unfolded protein response (GO:0006987)|bone mineralization (GO:0030282)|calcium-mediated signaling (GO:0019722)|cellular protein metabolic process (GO:0044267)|chondrocyte development (GO:0002063)|endocrine pancreas development (GO:0031018)|endoplasmic reticulum organization (GO:0007029)|endoplasmic reticulum unfolded protein response (GO:0030968)|ER overload response (GO:0006983)|fat cell differentiation (GO:0045444)|insulin secretion (GO:0030073)|insulin-like growth factor receptor signaling pathway (GO:0048009)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|lactation (GO:0007595)|negative regulation of apoptotic process (GO:0043066)|negative regulation of gene expression (GO:0010629)|negative regulation of myelination (GO:0031642)|negative regulation of translation (GO:0017148)|negative regulation of translational initiation in response to stress (GO:0032057)|ossification (GO:0001503)|positive regulation of protein binding (GO:0032092)|positive regulation of signal transduction (GO:0009967)|protein autophosphorylation (GO:0046777)|protein homooligomerization (GO:0051260)|protein phosphorylation (GO:0006468)|regulation of fatty acid metabolic process (GO:0019217)|response to endoplasmic reticulum stress (GO:0034976)|skeletal system development (GO:0001501)|SREBP signaling pathway (GO:0032933)|translation (GO:0006412)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	ATP binding (GO:0005524)|enzyme binding (GO:0019899)|eukaryotic translation initiation factor 2alpha kinase activity (GO:0004694)|identical protein binding (GO:0042802)|protein kinase activity (GO:0004672)|protein phosphatase binding (GO:0019903)|protein serine/threonine kinase activity (GO:0004674)	p.K622N(1)		ovary(3)	3						GACGGATCCTCTTGATAGCAT	0.398																																					GBM(138;671 1851 16235 39058 45249)	uc002stc.3																			1	Substitution - Missense(1)		lung(1)	ovary(3)	3						c.(1864-1866)AAG>AAT		eukaryotic translation initiation factor 2-alpha							166.0	159.0	162.0					2																	88879056		2203	4300	6503	SO:0001583	missense	9451				activation of caspase activity|bone mineralization|calcium-mediated signaling|chondrocyte development|endocrine pancreas development|endoplasmic reticulum organization|endoplasmic reticulum unfolded protein response|ER overload response|insulin secretion|insulin-like growth factor receptor signaling pathway|negative regulation of myelination|negative regulation of translational initiation in response to stress|protein autophosphorylation|protein homooligomerization	endoplasmic reticulum membrane|integral to membrane	ATP binding|eukaryotic translation initiation factor 2alpha kinase activity|identical protein binding	g.chr2:88879056C>A	AF110146	CCDS33241.1	2p12	2008-05-21			ENSG00000172071	ENSG00000172071			3255	protein-coding gene	gene with protein product		604032				10026192, 10575235	Standard	NM_004836		Approved	PEK, PERK	uc002stc.4	Q9NZJ5	OTTHUMG00000155046	ENST00000303236.3:c.1866G>T	2.37:g.88879056C>A	ENSP00000307235:p.Lys622Asn						p.K622N	NM_004836	NP_004827	Q9NZJ5	E2AK3_HUMAN			11	2068	-			622			Cytoplasmic (Potential).|Protein kinase.	ATP (By similarity).	A0AVH1|A0AVH2|B2RCU9|O95846|Q53QY0|Q53SB1	Missense_Mutation	SNP	ENST00000303236.3	37	c.1866G>T	CCDS33241.1	.	.	.	.	.	.	.	.	.	.	C	18.96	3.733644	0.69189	.	.	ENSG00000172071	ENST00000419748;ENST00000303236;ENST00000535951;ENST00000415570	T;T;T	0.70282	-0.47;-0.47;-0.47	6.06	0.245	0.15512	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.044245	0.85682	D	0.000000	D	0.86703	0.5996	H	0.95816	3.725	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.87897	0.2688	10	0.87932	D	0	-28.0118	12.086	0.53698	0.0:0.5855:0.0:0.4145	.	622	Q9NZJ5	E2AK3_HUMAN	N	471;622;471;501	ENSP00000408325:K471N;ENSP00000307235:K622N;ENSP00000412076:K501N	ENSP00000307235:K622N	K	-	3	2	EIF2AK3	88660171	1.000000	0.71417	0.998000	0.56505	0.995000	0.86356	1.135000	0.31454	0.057000	0.16193	-0.136000	0.14681	AAG		PASS	0.398	EIF2AK3-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000338233.2	NM_004836		34	165	34	165	---	---	---	---
IGKV1D-12	28903	broad.mit.edu	37	2	90198920	90198920	+	RNA	SNP	C	C	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr2:90198920C>A	ENST00000390276.2	+	0	262									immunoglobulin kappa variable 1D-12																		TCCAGATGACCCAGTCTCCAT	0.458																																						uc010fhm.2																			0													Parts of antibodies, mostly variable regions.							94.0	127.0	118.0					2																	90198920		1465	4031	5496			0							g.chr2:90198920C>A	X17263		2p11.2	2014-05-06			ENSG00000240834	ENSG00000278857		"""Immunoglobulins / IGK locus"""	5746	other	immunoglobulin gene							Standard	NG_000833		Approved				OTTHUMG00000188272		2.37:g.90198920C>A														24		+									RNA	SNP	ENST00000390276.2	37	c.3051C>A																																																																																					PASS	0.458	IGKV1D-12-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IG_V_gene	OTTHUMT00000323139.2	NG_000833		95	128	95	128	---	---	---	---
ADRA2B	151	broad.mit.edu	37	2	96781401	96781401	+	Missense_Mutation	SNP	T	T	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr2:96781401T>A	ENST00000409345.3	-	1	583	c.488A>T	c.(487-489)cAg>cTg	p.Q163L		NM_000682.5	NP_000673	P18089	ADA2B_HUMAN	adrenoceptor alpha 2B	163					activation of MAPK activity by adrenergic receptor signaling pathway (GO:0071883)|activation of protein kinase B activity (GO:0032148)|angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cell-cell signaling (GO:0007267)|epidermal growth factor-activated receptor transactivation by G-protein coupled receptor signaling pathway (GO:0035625)|female pregnancy (GO:0007565)|G-protein coupled receptor signaling pathway (GO:0007186)|MAPK cascade (GO:0000165)|negative regulation of epinephrine secretion (GO:0032811)|negative regulation of norepinephrine secretion (GO:0010700)|platelet activation (GO:0030168)|positive regulation of blood pressure (GO:0045777)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of uterine smooth muscle contraction (GO:0070474)|regulation of vascular smooth muscle contraction (GO:0003056)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	alpha2-adrenergic receptor activity (GO:0004938)|epinephrine binding (GO:0051379)	p.Q163L(2)		endometrium(2)|large_intestine(2)|lung(9)|ovary(3)	16					Amoxapine(DB00543)|Amphetamine(DB00182)|Apomorphine(DB00714)|Apraclonidine(DB00964)|Aripiprazole(DB01238)|Asenapine(DB06216)|Bethanidine(DB00217)|Brimonidine(DB00484)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Carvedilol(DB01136)|Chlorpromazine(DB00477)|Clonidine(DB00575)|Clozapine(DB00363)|Desipramine(DB01151)|Doxepin(DB01142)|Dronedarone(DB04855)|Droxidopa(DB06262)|Ephedra(DB01363)|Epinephrine(DB00668)|Ergoloid mesylate(DB01049)|Ergotamine(DB00696)|Etomidate(DB00292)|Fenoldopam(DB00800)|Guanabenz(DB00629)|Guanfacine(DB01018)|Lisuride(DB00589)|Loxapine(DB00408)|Maprotiline(DB00934)|Mephentermine(DB01365)|Methamphetamine(DB01577)|Methotrimeprazine(DB01403)|Mianserin(DB06148)|Norepinephrine(DB00368)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Oxymetazoline(DB00935)|Paliperidone(DB01267)|Pergolide(DB01186)|Phenoxybenzamine(DB00925)|Pramipexole(DB00413)|Prazosin(DB00457)|Quetiapine(DB01224)|Risperidone(DB00734)|Ropinirole(DB00268)|Rotigotine(DB05271)|Tizanidine(DB00697)|Tolazoline(DB00797)|Trimipramine(DB00726)|Xylometazoline(DB06694)|Yohimbine(DB01392)|Ziprasidone(DB00246)	GAGCTTGCACTGGGGGCGCCC	0.617																																						uc002svi.2																			2	Substitution - Missense(2)		lung(2)	ovary(2)|lung(1)	3						c.(487-489)CAG>CTG		alpha-2B-adrenergic receptor	Bethanidine(DB00217)|Brimonidine(DB00484)|Debrisoquin(DB04840)|Ergotamine(DB00696)|Fenoldopam(DB00800)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Lofexidine(DB04948)|Norepinephrine(DB00368)|Yohimbine(DB01392)						33.0	39.0	37.0					2																	96781401		2067	4207	6274	SO:0001583	missense	151				activation of MAPK activity by adrenergic receptor signaling pathway|activation of protein kinase B activity|blood coagulation|cell-cell signaling|epidermal growth factor receptor transactivation by G-protein coupled receptor signaling pathway|negative regulation of epinephrine secretion|negative regulation of norepinephrine secretion|positive regulation of neuron differentiation	integral to plasma membrane	alpha2-adrenergic receptor activity|epinephrine binding|protein binding	g.chr2:96781401T>A	M34041	CCDS56129.1	2q11.1	2014-05-06	2012-05-09		ENSG00000222040	ENSG00000274286		"""GPCR / Class A : Adrenoceptors : alpha"""	282	protein-coding gene	gene with protein product		104260	"""adrenergic, alpha-2B-, receptor"""	ADRA2L1, ADRA2RL1		2164221	Standard	NM_000682		Approved	ADRARL1	uc021vlh.1	P18089	OTTHUMG00000188276	ENST00000409345.3:c.488A>T	2.37:g.96781401T>A	ENSP00000387281:p.Gln163Leu						p.Q163L	NM_000682	NP_000673	P18089	ADA2B_HUMAN			1	488	-			163			Extracellular (By similarity).		Q4TUH9|Q53RF2|Q9BZK0	Missense_Mutation	SNP	ENST00000409345.3	37	c.488A>T	CCDS56129.1	.	.	.	.	.	.	.	.	.	.	T	18.01	3.528659	0.64860	.	.	ENSG00000222040	ENST00000409345	T	0.35973	1.28	4.92	4.92	0.64577	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.42675	0.1213	M	0.77486	2.375	0.52501	D	0.999954	P	0.37423	0.594	B	0.38296	0.27	T	0.49818	-0.8899	9	0.66056	D	0.02	.	12.6073	0.56531	0.0:0.0:0.0:1.0	.	163	P18089	ADA2B_HUMAN	L	163	ENSP00000387281:Q163L	ENSP00000387281:Q163L	Q	-	2	0	ADRA2B	96145128	1.000000	0.71417	0.998000	0.56505	0.971000	0.66376	3.234000	0.51320	2.078000	0.62432	0.374000	0.22700	CAG		PASS	0.617	ADRA2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334990.1			13	43	13	43	---	---	---	---
DUSP2	1844	broad.mit.edu	37	2	96810554	96810554	+	Silent	SNP	C	C	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr2:96810554C>A	ENST00000288943.4	-	2	541	c.456G>T	c.(454-456)ccG>ccT	p.P152P	AC012307.2_ENST00000449242.1_lincRNA	NM_004418.3	NP_004409.1	Q05923	DUS2_HUMAN	dual specificity phosphatase 2	152					endoderm formation (GO:0001706)|inactivation of MAPK activity (GO:0000188)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	nucleus (GO:0005634)	MAP kinase tyrosine/serine/threonine phosphatase activity (GO:0017017)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)|protein tyrosine/threonine phosphatase activity (GO:0008330)	p.P152P(1)		NS(1)|breast(1)|lung(2)|skin(1)	5		Ovarian(717;0.0228)				CCCCTGTTGGCGGCAGCGCAG	0.672																																						uc002svk.3																			1	Substitution - coding silent(1)		lung(1)	breast(1)	1						c.(454-456)CCG>CCT		dual specificity phosphatase 2							11.0	15.0	14.0					2																	96810554		2155	4246	6401	SO:0001819	synonymous_variant	1844				endoderm formation|inactivation of MAPK activity|regulation of apoptosis	nucleoplasm	MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/threonine phosphatase activity	g.chr2:96810554C>A	L11329	CCDS2016.1	2q11	2011-06-09			ENSG00000158050	ENSG00000158050		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : MAP kinase phosphatases"""	3068	protein-coding gene	gene with protein product		603068				7806236, 7590752, 12673251	Standard	NM_004418		Approved	PAC-1	uc002svk.4	Q05923	OTTHUMG00000130456	ENST00000288943.4:c.456G>T	2.37:g.96810554C>A							p.P152P	NM_004418	NP_004409	Q05923	DUS2_HUMAN			2	542	-		Ovarian(717;0.0228)	152					Q53T45	Silent	SNP	ENST00000288943.4	37	c.456G>T	CCDS2016.1																																																																																				PASS	0.672	DUSP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252847.1	NM_004418		2	1	2	1	---	---	---	---
TMEM131	23505	broad.mit.edu	37	2	98377352	98377352	+	Nonsense_Mutation	SNP	C	C	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr2:98377352C>A	ENST00000186436.5	-	37	5143	c.4915G>T	c.(4915-4917)Gga>Tga	p.G1639*		NM_015348.1	NP_056163.1	Q92545	TM131_HUMAN	transmembrane protein 131	1639						integral component of membrane (GO:0016021)		p.G1526*(1)|p.G1639*(1)		NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(4)|prostate(1)|skin(1)|stomach(1)	57						TGTTTGCTTCCATTTGGCTGT	0.537																																						uc002syh.3																			2	Substitution - Nonsense(2)		lung(2)	ovary(4)|central_nervous_system(2)	6						c.(4915-4917)GGA>TGA		RW1 protein							101.0	103.0	102.0					2																	98377352		1964	4162	6126	SO:0001587	stop_gained	23505					integral to membrane		g.chr2:98377352C>A	AK025852	CCDS46368.1	2q11.2	2006-04-12			ENSG00000075568	ENSG00000075568			30366	protein-coding gene	gene with protein product		615659				9039502, 10996388	Standard	NM_015348		Approved	CC28, YR-23, RW1, KIAA0257, PRO1048	uc002syh.4	Q92545	OTTHUMG00000153061	ENST00000186436.5:c.4915G>T	2.37:g.98377352C>A	ENSP00000186436:p.Gly1639*					TMEM131_uc002syg.2_Nonsense_Mutation_p.G19*	p.G1639*	NM_015348	NP_056163	Q92545	TM131_HUMAN			37	5144	-			1639						Nonsense_Mutation	SNP	ENST00000186436.5	37	c.4915G>T	CCDS46368.1	.	.	.	.	.	.	.	.	.	.	C	46	12.527102	0.99675	.	.	ENSG00000075568	ENST00000186436	.	.	.	5.44	2.6	0.31112	.	0.288561	0.39020	N	0.001489	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.17369	T	0.5	-5.8841	10.7098	0.45977	0.0:0.7923:0.0:0.2077	.	.	.	.	X	1639	.	ENSP00000186436:G1639X	G	-	1	0	TMEM131	97743784	0.686000	0.27661	0.086000	0.20670	0.986000	0.74619	1.401000	0.34589	0.745000	0.32763	0.637000	0.83480	GGA		PASS	0.537	TMEM131-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329285.2	XM_371542		21	97	21	97	---	---	---	---
TMEM131	23505	broad.mit.edu	37	2	98409345	98409345	+	Silent	SNP	T	T	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr2:98409345T>A	ENST00000186436.5	-	31	3876	c.3648A>T	c.(3646-3648)ccA>ccT	p.P1216P		NM_015348.1	NP_056163.1	Q92545	TM131_HUMAN	transmembrane protein 131	1216						integral component of membrane (GO:0016021)		p.P1103P(1)|p.P1216P(1)		NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(4)|prostate(1)|skin(1)|stomach(1)	57						GGTGGACCGATGGGCCACACT	0.547																																						uc002syh.3																			2	Substitution - coding silent(2)		lung(2)	ovary(4)|central_nervous_system(2)	6						c.(3646-3648)CCA>CCT		RW1 protein							101.0	88.0	92.0					2																	98409345		2178	4288	6466	SO:0001819	synonymous_variant	23505					integral to membrane		g.chr2:98409345T>A	AK025852	CCDS46368.1	2q11.2	2006-04-12			ENSG00000075568	ENSG00000075568			30366	protein-coding gene	gene with protein product		615659				9039502, 10996388	Standard	NM_015348		Approved	CC28, YR-23, RW1, KIAA0257, PRO1048	uc002syh.4	Q92545	OTTHUMG00000153061	ENST00000186436.5:c.3648A>T	2.37:g.98409345T>A							p.P1216P	NM_015348	NP_056163	Q92545	TM131_HUMAN			31	3877	-			1216						Silent	SNP	ENST00000186436.5	37	c.3648A>T	CCDS46368.1																																																																																				PASS	0.547	TMEM131-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329285.2	XM_371542		15	31	15	31	---	---	---	---
AFF3	3899	broad.mit.edu	37	2	100343538	100343538	+	Splice_Site	SNP	C	C	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr2:100343538C>T	ENST00000409236.2	-	9	1204		c.e9+1		AFF3_ENST00000317233.4_Splice_Site|AFF3_ENST00000356421.2_Splice_Site|AFF3_ENST00000409579.1_Splice_Site			P51826	AFF3_HUMAN	AF4/FMR2 family, member 3						embryonic hindlimb morphogenesis (GO:0035116)|regulation of transcription, DNA-templated (GO:0006355)|response to tumor necrosis factor (GO:0034612)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	double-stranded DNA binding (GO:0003690)	p.?(1)		NS(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(9)|kidney(4)|large_intestine(20)|liver(1)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(3)	86						AAGAAACTTACGATGTATTCG	0.363																																						uc002tag.2																			1	Unknown(1)		lung(1)	ovary(2)|pancreas(1)|lung(1)|kidney(1)|skin(1)	6						c.e10+1		AF4/FMR2 family, member 3 isoform 1							80.0	79.0	79.0					2																	100343538		2203	4300	6503	SO:0001630	splice_region_variant	3899				multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	g.chr2:100343538C>T	U34360	CCDS33258.1, CCDS42723.1	2q11.2-q12	2008-02-05	2005-06-27	2005-06-27	ENSG00000144218	ENSG00000144218			6473	protein-coding gene	gene with protein product		601464	"""lymphoid nuclear protein related to AF4"""	LAF4		8662235, 8555498	Standard	XM_005263945		Approved	MLLT2-like	uc002taf.3	P51826	OTTHUMG00000153011	ENST00000409236.2:c.1091+1G>A	2.37:g.100343538C>T						AFF3_uc002taf.2_Splice_Site_p.S389_splice|AFF3_uc010fiq.1_Splice_Site_p.S364_splice|AFF3_uc010yvr.1_Splice_Site_p.S518_splice|AFF3_uc002tah.1_Splice_Site_p.S389_splice|AFF3_uc010fir.1_Silent_p.S441S	p.S364_splice	NM_002285	NP_002276	P51826	AFF3_HUMAN			10	1327	-								B7ZM46|B9EGL9|D3DVI6|Q53RD6|Q53S47|Q53SI6|Q53TB9|Q59F27|Q8IWJ5	Splice_Site	SNP	ENST00000409236.2	37	c.1091_splice	CCDS42723.1	.	.	.	.	.	.	.	.	.	.	C	21.9	4.210902	0.79240	.	.	ENSG00000144218	ENST00000317233;ENST00000356421;ENST00000409579;ENST00000409236;ENST00000433370;ENST00000444786;ENST00000432288	.	.	.	5.26	5.26	0.73747	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.053	0.86525	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	AFF3	99709970	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.654000	0.61469	2.455000	0.83008	0.655000	0.94253	.		PASS	0.363	AFF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328982.3	NM_002285	Intron	19	66	19	66	---	---	---	---
LONRF2	164832	broad.mit.edu	37	2	100910719	100910719	+	Missense_Mutation	SNP	C	C	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr2:100910719C>A	ENST00000393437.3	-	9	2368	c.1729G>T	c.(1729-1731)Ggc>Tgc	p.G577C	LONRF2_ENST00000409647.1_Missense_Mutation_p.G334C	NM_198461.3	NP_940863.3	Q1L5Z9	LONF2_HUMAN	LON peptidase N-terminal domain and ring finger 2	577	Lon.						ATP-dependent peptidase activity (GO:0004176)|zinc ion binding (GO:0008270)	p.G577C(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						AAACACATGCCAAACCGCTTG	0.493																																						uc002tal.3																			1	Substitution - Missense(1)		lung(1)	large_intestine(1)|skin(1)	2						c.(1729-1731)GGC>TGC		LON peptidase N-terminal domain and ring finger							111.0	95.0	101.0					2																	100910719		2203	4300	6503	SO:0001583	missense	164832				proteolysis		ATP-dependent peptidase activity|zinc ion binding	g.chr2:100910719C>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.1729G>T	2.37:g.100910719C>A	ENSP00000377086:p.Gly577Cys					LONRF2_uc010yvs.1_RNA	p.G577C	NM_198461	NP_940863	Q1L5Z9	LONF2_HUMAN			9	2369	-			577			Lon.		B9A006|Q6ZSR4	Missense_Mutation	SNP	ENST00000393437.3	37	c.1729G>T	CCDS2046.2	.	.	.	.	.	.	.	.	.	.	C	13.29	2.192057	0.38707	.	.	ENSG00000170500	ENST00000393437;ENST00000409647	T;T	0.57107	0.42;0.42	4.08	2.23	0.28157	Peptidase S16, lon N-terminal (1);PUA-like domain (1);	0.053608	0.85682	D	0.000000	T	0.76842	0.4044	H	0.95402	3.665	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.77091	-0.2716	10	0.72032	D	0.01	-4.8041	8.3943	0.32548	0.1542:0.763:0.0:0.0828	.	577	Q1L5Z9	LONF2_HUMAN	C	577;334	ENSP00000377086:G577C;ENSP00000386823:G334C	ENSP00000377086:G577C	G	-	1	0	LONRF2	100277151	1.000000	0.71417	0.236000	0.24074	0.024000	0.10985	5.193000	0.65120	0.287000	0.22375	-0.181000	0.13052	GGC		PASS	0.493	LONRF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253161.2	NM_198461		35	51	35	51	---	---	---	---
NPAS2	4862	broad.mit.edu	37	2	101604630	101604630	+	Silent	SNP	A	A	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr2:101604630A>T	ENST00000335681.5	+	17	2004	c.1719A>T	c.(1717-1719)gcA>gcT	p.A573A	NPAS2_ENST00000542504.1_Silent_p.A638A	NM_002518.3	NP_002509.2	Q99743	NPAS2_HUMAN	neuronal PAS domain protein 2	573					cellular lipid metabolic process (GO:0044255)|cellular response to DNA damage stimulus (GO:0006974)|central nervous system development (GO:0007417)|circadian regulation of gene expression (GO:0032922)|circadian sleep/wake cycle (GO:0042745)|locomotor rhythm (GO:0045475)|negative regulation of cell death (GO:0060548)|positive regulation of DNA repair (GO:0045739)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of response to DNA damage stimulus (GO:2001020)|response to redox state (GO:0051775)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	cytosol (GO:0005829)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	core promoter binding (GO:0001047)|DNA binding (GO:0003677)|Hsp90 protein binding (GO:0051879)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)	p.A573A(1)		cervix(1)|endometrium(3)|large_intestine(7)|lung(9)|ovary(3)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						GGTCAGCTGCAGTGACTCAGC	0.602																																						uc002tap.1																			1	Substitution - coding silent(1)		lung(1)	ovary(3)|upper_aerodigestive_tract(1)	4						c.(1717-1719)GCA>GCT		neuronal PAS domain protein 2							77.0	82.0	80.0					2																	101604630		2203	4300	6503	SO:0001819	synonymous_variant	4862				central nervous system development|positive regulation of transcription from RNA polymerase II promoter|rhythmic process	transcription factor complex	DNA binding|Hsp90 protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity	g.chr2:101604630A>T	U77970	CCDS2048.1	2q11.2	2013-05-21			ENSG00000170485	ENSG00000170485		"""Basic helix-loop-helix proteins"""	7895	protein-coding gene	gene with protein product		603347				9012850, 9079689	Standard	NM_002518		Approved	MOP4, PASD4, bHLHe9	uc002tap.1	Q99743	OTTHUMG00000130675	ENST00000335681.5:c.1719A>T	2.37:g.101604630A>T						NPAS2_uc010yvt.1_Silent_p.A638A|NPAS2_uc010fit.1_Intron	p.A573A	NM_002518	NP_002509	Q99743	NPAS2_HUMAN			17	2005	+			573					Q4ZFV9|Q53SQ3|Q86V96|Q99629	Silent	SNP	ENST00000335681.5	37	c.1719A>T	CCDS2048.1	.	.	.	.	.	.	.	.	.	.	A	1.703	-0.501064	0.04261	.	.	ENSG00000170485	ENST00000433408	.	.	.	5.84	-5.2	0.02823	.	.	.	.	.	T	0.19446	0.0467	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.33033	-0.9884	4	.	.	.	.	4.6126	0.12409	0.2333:0.4741:0.123:0.1695	.	.	.	.	C	72	.	.	S	+	1	0	NPAS2	100971062	0.000000	0.05858	0.000000	0.03702	0.094000	0.18550	-0.896000	0.04114	-0.434000	0.07275	-0.313000	0.08912	AGT		PASS	0.602	NPAS2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000253168.3			36	143	36	143	---	---	---	---
IL18RAP	8807	broad.mit.edu	37	2	103040825	103040825	+	Missense_Mutation	SNP	G	G	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr2:103040825G>A	ENST00000264260.2	+	5	1119	c.530G>A	c.(529-531)aGt>aAt	p.S177N	IL18RAP_ENST00000409369.1_Missense_Mutation_p.S35N	NM_003853.2	NP_003844.1	O95256	I18RA_HUMAN	interleukin 18 receptor accessory protein	177	Ig-like C2-type 1.				cell surface receptor signaling pathway (GO:0007166)|immune response (GO:0006955)|inflammatory response (GO:0006954)	integral component of membrane (GO:0016021)	receptor activity (GO:0004872)	p.S177N(1)		autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(5)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(4)	37						tctTGCCCCAGTCTCAGCTGC	0.418																																						uc002tbx.2																			1	Substitution - Missense(1)		lung(1)	skin(3)|ovary(2)	5						c.(529-531)AGT>AAT		interleukin 18 receptor accessory protein							98.0	96.0	97.0					2																	103040825		2203	4300	6503	SO:0001583	missense	8807				cell surface receptor linked signaling pathway|inflammatory response|innate immune response	integral to membrane	transmembrane receptor activity	g.chr2:103040825G>A	AF077346	CCDS2061.1	2q12.1	2013-01-11			ENSG00000115607	ENSG00000115607		"""Interleukins and interleukin receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5989	protein-coding gene	gene with protein product		604509				9792649	Standard	XM_005264034		Approved	AcPL, CD218b	uc002tbx.3	O95256	OTTHUMG00000130777	ENST00000264260.2:c.530G>A	2.37:g.103040825G>A	ENSP00000264260:p.Ser177Asn					IL18RAP_uc010fiz.2_Missense_Mutation_p.S35N	p.S177N	NM_003853	NP_003844	O95256	I18RA_HUMAN			5	1014	+			177			Ig-like C2-type 1.|Extracellular (Potential).		B2RPJ3|Q3KPE7|Q3KPE8|Q53TT4|Q53TU5	Missense_Mutation	SNP	ENST00000264260.2	37	c.530G>A	CCDS2061.1	.	.	.	.	.	.	.	.	.	.	G	12.08	1.830420	0.32329	.	.	ENSG00000115607	ENST00000264260;ENST00000409369	T;T	0.11495	2.77;2.77	5.69	4.81	0.61882	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.468841	0.23091	N	0.052026	T	0.13586	0.0329	L	0.54323	1.7	0.09310	N	1	P	0.39920	0.695	P	0.45794	0.493	T	0.07443	-1.0772	10	0.06757	T	0.87	.	10.9225	0.47174	0.0863:0.0:0.9137:0.0	.	177	O95256	I18RA_HUMAN	N	177;35	ENSP00000264260:S177N;ENSP00000387201:S35N	ENSP00000264260:S177N	S	+	2	0	IL18RAP	102407257	0.004000	0.15560	0.527000	0.27925	0.978000	0.69477	1.388000	0.34442	1.545000	0.49373	0.655000	0.94253	AGT		PASS	0.418	IL18RAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253291.2	NM_003853		28	110	28	110	---	---	---	---
SLC5A7	60482	broad.mit.edu	37	2	108608580	108608580	+	Missense_Mutation	SNP	G	G	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr2:108608580G>T	ENST00000264047.2	+	3	473	c.197G>T	c.(196-198)gGg>gTg	p.G66V	SLC5A7_ENST00000409059.1_Missense_Mutation_p.G66V|SLC5A7_ENST00000540517.1_5'UTR	NM_021815.2	NP_068587.1	Q9GZV3	SC5A7_HUMAN	solute carrier family 5 (sodium/choline cotransporter), member 7	66					acetylcholine biosynthetic process (GO:0008292)|cell death (GO:0008219)|neuromuscular synaptic transmission (GO:0007274)|neurotransmitter secretion (GO:0007269)|synaptic transmission (GO:0007268)|synaptic transmission, cholinergic (GO:0007271)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	choline binding (GO:0033265)|choline transmembrane transporter activity (GO:0015220)|choline:sodium symporter activity (GO:0005307)	p.G66V(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(23)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	49					Choline(DB00122)	GTCGGAGGAGGGTATATCAAT	0.458																																						uc002tdv.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|central_nervous_system(1)|skin(1)	4						c.(196-198)GGG>GTG		solute carrier family 5 (choline transporter),	Choline(DB00122)						171.0	145.0	154.0					2																	108608580		2203	4300	6503	SO:0001583	missense	60482				acetylcholine biosynthetic process|neurotransmitter secretion	integral to membrane|plasma membrane	choline:sodium symporter activity	g.chr2:108608580G>T	AF276871	CCDS2074.1	2q12	2013-07-19	2013-07-19		ENSG00000115665	ENSG00000115665		"""Solute carriers"""	14025	protein-coding gene	gene with protein product		608761	"""solute carrier family 5 (choline transporter), member 7"""			11027560	Standard	NM_021815		Approved	hCHT, CHT1	uc002tdv.3	Q9GZV3	OTTHUMG00000130959	ENST00000264047.2:c.197G>T	2.37:g.108608580G>T	ENSP00000264047:p.Gly66Val					SLC5A7_uc010ywm.1_5'UTR|SLC5A7_uc010fjj.2_Missense_Mutation_p.G66V|SLC5A7_uc010ywn.1_5'UTR	p.G66V	NM_021815	NP_068587	Q9GZV3	SC5A7_HUMAN			3	473	+			66			Helical; (Potential).		Q53TF2	Missense_Mutation	SNP	ENST00000264047.2	37	c.197G>T	CCDS2074.1	.	.	.	.	.	.	.	.	.	.	G	29.9	5.045897	0.93685	.	.	ENSG00000115665	ENST00000409059;ENST00000264047	D;D	0.88201	-2.35;-2.35	6.16	6.16	0.99307	.	0.000000	0.85682	D	0.000000	D	0.96018	0.8703	M	0.91818	3.245	0.80722	D	1	D	0.76494	0.999	D	0.75484	0.986	D	0.95405	0.8493	10	0.56958	D	0.05	3.3795	20.8598	0.99761	0.0:0.0:1.0:0.0	.	66	Q9GZV3	SC5A7_HUMAN	V	66	ENSP00000387346:G66V;ENSP00000264047:G66V	ENSP00000264047:G66V	G	+	2	0	SLC5A7	107975012	1.000000	0.71417	0.995000	0.50966	0.996000	0.88848	7.637000	0.83313	2.937000	0.99478	0.650000	0.86243	GGG		PASS	0.458	SLC5A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253562.1			26	104	26	104	---	---	---	---
SH3RF3	344558	broad.mit.edu	37	2	110015230	110015230	+	Missense_Mutation	SNP	A	A	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr2:110015230A>T	ENST00000309415.6	+	4	1130	c.1130A>T	c.(1129-1131)aAg>aTg	p.K377M		NM_001099289.1	NP_001092759.1	Q8TEJ3	SH3R3_HUMAN	SH3 domain containing ring finger 3	377							zinc ion binding (GO:0008270)	p.K377M(1)		endometrium(2)|kidney(1)|large_intestine(6)|liver(2)|lung(5)|ovary(2)	18						AAGAACACCAAGAAACGCCAC	0.597																																						uc010ywt.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1129-1131)AAG>ATG		SH3 domain containing ring finger 3							54.0	64.0	61.0					2																	110015230		2201	4300	6501	SO:0001583	missense	344558						zinc ion binding	g.chr2:110015230A>T	AK074131	CCDS74557.1	2q13	2013-01-11	2008-05-14	2008-05-14	ENSG00000172985	ENSG00000172985		"""RING-type (C3HC4) zinc fingers"""	24699	protein-coding gene	gene with protein product			"""SH3 multiple domains 4"""	SH3MD4		16374509	Standard	XM_006712493		Approved	FLJ00204, POSH2	uc010ywt.1	Q8TEJ3	OTTHUMG00000153439	ENST00000309415.6:c.1130A>T	2.37:g.110015230A>T	ENSP00000309186:p.Lys377Met						p.K377M	NM_001099289	NP_001092759	Q8TEJ3	SH3R3_HUMAN			4	1130	+			377					A0SDZ7|A8MPR1|Q8NDU1	Missense_Mutation	SNP	ENST00000309415.6	37	c.1130A>T		.	.	.	.	.	.	.	.	.	.	A	22.9	4.354514	0.82243	.	.	ENSG00000172985	ENST00000418513;ENST00000309415	T;T	0.08984	3.03;3.03	4.85	4.85	0.62838	.	0.000000	0.85682	D	0.000000	T	0.27731	0.0682	.	.	.	0.80722	D	1	D	0.76494	0.999	D	0.68765	0.96	T	0.01702	-1.1292	9	0.59425	D	0.04	-32.934	14.5876	0.68339	1.0:0.0:0.0:0.0	.	377	Q8TEJ3	SH3R3_HUMAN	M	377	ENSP00000414997:K377M;ENSP00000309186:K377M	ENSP00000309186:K377M	K	+	2	0	SH3RF3	109381662	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	8.739000	0.91574	2.040000	0.60383	0.459000	0.35465	AAG		PASS	0.597	SH3RF3-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_001099289		10	23	10	23	---	---	---	---
FOXD4L1	200350	broad.mit.edu	37	2	114257000	114257000	+	Missense_Mutation	SNP	A	A	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr2:114257000A>T	ENST00000306507.5	+	1	340	c.167A>T	c.(166-168)cAg>cTg	p.Q56L		NM_012184.4	NP_036316.1	Q9NU39	FX4L1_HUMAN	forkhead box D4-like 1	56					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.Q56L(1)		NS(2)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(10)|prostate(1)|skin(2)	26						CAGTCGCTCCAGCCGGGGCTG	0.647																																						uc002tjw.3																			1	Substitution - Missense(1)		lung(1)		0						c.(166-168)CAG>CTG		forkhead box D4-like 1							28.0	49.0	42.0					2																	114257000		2153	4224	6377	SO:0001583	missense	200350				axon extension involved in axon guidance|cartilage development|dichotomous subdivision of terminal units involved in ureteric bud branching|embryo development|enteric nervous system development|iridophore differentiation|lateral line nerve glial cell development|melanocyte differentiation|neural crest cell migration|pattern specification process|peripheral nervous system development|positive regulation of BMP signaling pathway|positive regulation of kidney development|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|sympathetic nervous system development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding	g.chr2:114257000A>T	AF452723	CCDS2117.1	2q14.1	2008-02-05			ENSG00000184492	ENSG00000184492			18521	protein-coding gene	gene with protein product		611084				12421752, 15233989	Standard	NM_012184		Approved	FOXD5	uc002tjw.4	Q9NU39	OTTHUMG00000131359	ENST00000306507.5:c.167A>T	2.37:g.114257000A>T	ENSP00000302756:p.Gln56Leu						p.Q56L	NM_012184	NP_036316	Q9NU39	FX4L1_HUMAN			1	340	+			56					B3KWN1|B9EGF3	Missense_Mutation	SNP	ENST00000306507.5	37	c.167A>T	CCDS2117.1	.	.	.	.	.	.	.	.	.	.	.	10.99	1.507209	0.27036	.	.	ENSG00000184492	ENST00000306507	D	0.94537	-3.45	2.02	-1.55	0.08558	.	1.016290	0.07942	U	0.979472	D	0.89076	0.6612	L	0.32530	0.975	0.09310	N	1	B	0.12013	0.005	B	0.04013	0.001	T	0.76841	-0.2810	10	0.49607	T	0.09	.	7.2278	0.26026	0.5118:0.4882:0.0:0.0	.	56	Q9NU39	FX4L1_HUMAN	L	56	ENSP00000302756:Q56L	ENSP00000302756:Q56L	Q	+	2	0	FOXD4L1	113973470	0.000000	0.05858	0.001000	0.08648	0.184000	0.23303	-1.028000	0.03589	-0.444000	0.07170	0.155000	0.16302	CAG		PASS	0.647	FOXD4L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254148.1	NM_012184		19	57	19	57	---	---	---	---
SLC35F5	80255	broad.mit.edu	37	2	114512771	114512771	+	Missense_Mutation	SNP	T	T	C			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr2:114512771T>C	ENST00000245680.2	-	3	657	c.244A>G	c.(244-246)Ata>Gta	p.I82V	SLC35F5_ENST00000409342.1_Missense_Mutation_p.I76V	NM_025181.2	NP_079457.2	Q8WV83	S35F5_HUMAN	solute carrier family 35, member F5	82					transport (GO:0006810)	integral component of membrane (GO:0016021)		p.I82V(1)		endometrium(1)|kidney(4)|large_intestine(2)|lung(7)|ovary(2)|prostate(3)|skin(1)	20						GCAACCCATATCACATCAACA	0.423																																						uc002tku.1																			1	Substitution - Missense(1)		lung(1)		0						c.(244-246)ATA>GTA		solute carrier family 35, member F5							85.0	81.0	83.0					2																	114512771		2203	4300	6503	SO:0001583	missense	80255				transport	integral to membrane		g.chr2:114512771T>C	AF529364	CCDS2119.1	2q14.1	2013-05-22			ENSG00000115084	ENSG00000115084		"""Solute carriers"""	23617	protein-coding gene	gene with protein product							Standard	XM_005263799		Approved	FLJ22004	uc002tku.1	Q8WV83	OTTHUMG00000131361	ENST00000245680.2:c.244A>G	2.37:g.114512771T>C	ENSP00000245680:p.Ile82Val					SLC35F5_uc002tkt.2_RNA|SLC35F5_uc002tkv.2_Missense_Mutation_p.I76V|SLC35F5_uc002tkw.2_Missense_Mutation_p.I82V	p.I82V	NM_025181	NP_079457	Q8WV83	S35F5_HUMAN			3	668	-			82			Helical; (Potential).		Q9H6P8|Q9H7D8	Missense_Mutation	SNP	ENST00000245680.2	37	c.244A>G	CCDS2119.1	.	.	.	.	.	.	.	.	.	.	T	24.8	4.565881	0.86439	.	.	ENSG00000115084	ENST00000245680;ENST00000409106;ENST00000409342	T;T	0.50548	0.74;0.74	5.27	5.27	0.74061	.	0.000000	0.85682	D	0.000000	T	0.60470	0.2271	L	0.45581	1.43	0.47374	D	0.9994	D;D;P	0.71674	0.985;0.998;0.803	D;D;P	0.70935	0.952;0.971;0.847	T	0.60495	-0.7252	10	0.48119	T	0.1	-22.6768	13.9127	0.63878	0.0:0.0:0.0:1.0	.	82;76;82	B2RDY0;B8ZZV6;Q8WV83	.;.;S35F5_HUMAN	V	82;76;76	ENSP00000245680:I82V;ENSP00000386754:I76V	ENSP00000245680:I82V	I	-	1	0	SLC35F5	114229241	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.978000	0.76147	2.209000	0.71365	0.533000	0.62120	ATA		PASS	0.423	SLC35F5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254150.1	NM_025181		11	63	11	63	---	---	---	---
CFAP221	200373	broad.mit.edu	37	2	120369312	120369312	+	Silent	SNP	A	A	G			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr2:120369312A>G	ENST00000413369.3	+	13	1392	c.1305A>G	c.(1303-1305)caA>caG	p.Q435Q	PCDP1_ENST00000597189.1_3'UTR|PCDP1_ENST00000602047.1_Silent_p.Q149Q	NM_001271049.1	NP_001257978												p.Q149Q(1)				Colorectal(110;0.196)					TTCGCAATCAAGAAGAGGTGG	0.343																																						uc002tmb.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(445-447)CAA>CAG		primary ciliary dyskinesia protein 1							69.0	69.0	69.0					2																	120369312		2203	4300	6503	SO:0001819	synonymous_variant	200373					cilium	calmodulin binding	g.chr2:120369312A>G																												ENST00000413369.3:c.1305A>G	2.37:g.120369312A>G						PCDP1_uc010yyq.1_Silent_p.Q279Q	p.Q149Q	NM_001029996	NP_001025167	Q4G0U5	PCDP1_HUMAN			14	1539	+	Colorectal(110;0.196)		435						Silent	SNP	ENST00000413369.3	37	c.447A>G	CCDS33282.2																																																																																				PASS	0.343	PCDP1-006	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464236.1			25	47	25	47	---	---	---	---
CNTNAP5	129684	broad.mit.edu	37	2	125261959	125261959	+	Missense_Mutation	SNP	C	C	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr2:125261959C>A	ENST00000431078.1	+	8	1514	c.1150C>A	c.(1150-1152)Ccc>Acc	p.P384T		NM_130773.2	NP_570129.1	Q8WYK1	CNTP5_HUMAN	contactin associated protein-like 5	384	Laminin G-like 2. {ECO:0000255|PROSITE- ProRule:PRU00122}.				cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)		p.P384T(1)		NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3)	176				BRCA - Breast invasive adenocarcinoma(221;0.248)		GCCCGGCACCCCCCAAATTGA	0.532																																						uc002tno.2																			1	Substitution - Missense(1)		lung(1)	ovary(10)	10						c.(1150-1152)CCC>ACC		contactin associated protein-like 5 precursor							74.0	69.0	71.0					2																	125261959		1866	4116	5982	SO:0001583	missense	129684				cell adhesion|signal transduction	integral to membrane	receptor binding	g.chr2:125261959C>A	AB077881	CCDS46401.1	2q14.1	2008-02-05			ENSG00000155052	ENSG00000155052			18748	protein-coding gene	gene with protein product		610519					Standard	NM_130773		Approved	caspr5, FLJ31966	uc002tno.3	Q8WYK1	OTTHUMG00000153356	ENST00000431078.1:c.1150C>A	2.37:g.125261959C>A	ENSP00000399013:p.Pro384Thr					CNTNAP5_uc010flu.2_Missense_Mutation_p.P385T	p.P384T	NM_130773	NP_570129	Q8WYK1	CNTP5_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.248)	8	1514	+			384			Laminin G-like 2.|Extracellular (Potential).		Q4ZFW2|Q4ZG21|Q53R09|Q53RX1|Q53SG3|Q584P3|Q96MS7	Missense_Mutation	SNP	ENST00000431078.1	37	c.1150C>A	CCDS46401.1	.	.	.	.	.	.	.	.	.	.	C	11.77	1.736892	0.30774	.	.	ENSG00000155052	ENST00000431078	T	0.79940	-1.32	5.64	5.64	0.86602	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (1);	0.000000	0.47852	D	0.000207	T	0.78194	0.4245	L	0.37630	1.12	0.42171	D	0.991644	D	0.61080	0.989	P	0.50825	0.651	T	0.73994	-0.3807	10	0.15952	T	0.53	.	15.8098	0.78552	0.0:0.864:0.1359:0.0	.	384	Q8WYK1	CNTP5_HUMAN	T	384	ENSP00000399013:P384T	ENSP00000399013:P384T	P	+	1	0	CNTNAP5	124978429	0.999000	0.42202	1.000000	0.80357	0.995000	0.86356	1.344000	0.33941	2.642000	0.89623	0.650000	0.86243	CCC		PASS	0.532	CNTNAP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330864.3			20	42	20	42	---	---	---	---
CNTNAP5	129684	broad.mit.edu	37	2	125504814	125504814	+	Missense_Mutation	SNP	C	C	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr2:125504814C>A	ENST00000431078.1	+	14	2447	c.2083C>A	c.(2083-2085)Cca>Aca	p.P695T		NM_130773.2	NP_570129.1	Q8WYK1	CNTP5_HUMAN	contactin associated protein-like 5	695	Fibrinogen C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00739}.				cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)		p.P695T(1)		NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3)	176				BRCA - Breast invasive adenocarcinoma(221;0.248)		AGATGGAACACCATTTACCTG	0.532																																						uc002tno.2																			1	Substitution - Missense(1)		lung(1)	ovary(10)	10						c.(2083-2085)CCA>ACA		contactin associated protein-like 5 precursor							78.0	76.0	77.0					2																	125504814		2001	4173	6174	SO:0001583	missense	129684				cell adhesion|signal transduction	integral to membrane	receptor binding	g.chr2:125504814C>A	AB077881	CCDS46401.1	2q14.1	2008-02-05			ENSG00000155052	ENSG00000155052			18748	protein-coding gene	gene with protein product		610519					Standard	NM_130773		Approved	caspr5, FLJ31966	uc002tno.3	Q8WYK1	OTTHUMG00000153356	ENST00000431078.1:c.2083C>A	2.37:g.125504814C>A	ENSP00000399013:p.Pro695Thr					CNTNAP5_uc010flu.2_Missense_Mutation_p.P696T	p.P695T	NM_130773	NP_570129	Q8WYK1	CNTP5_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.248)	14	2447	+			695			Extracellular (Potential).|Fibrinogen C-terminal.		Q4ZFW2|Q4ZG21|Q53R09|Q53RX1|Q53SG3|Q584P3|Q96MS7	Missense_Mutation	SNP	ENST00000431078.1	37	c.2083C>A	CCDS46401.1	.	.	.	.	.	.	.	.	.	.	C	16.93	3.257269	0.59321	.	.	ENSG00000155052	ENST00000431078	T	0.14144	2.53	6.04	6.04	0.98038	.	0.000000	0.50627	D	0.000110	T	0.44307	0.1287	M	0.86953	2.85	0.80722	D	1	D	0.76494	0.999	D	0.64144	0.922	T	0.43442	-0.9391	10	0.87932	D	0	.	19.5772	0.95449	0.0:1.0:0.0:0.0	.	695	Q8WYK1	CNTP5_HUMAN	T	695	ENSP00000399013:P695T	ENSP00000399013:P695T	P	+	1	0	CNTNAP5	125221284	1.000000	0.71417	0.231000	0.23993	0.063000	0.16089	7.708000	0.84633	2.876000	0.98609	0.650000	0.86243	CCA		PASS	0.532	CNTNAP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330864.3			20	22	20	22	---	---	---	---
MYO7B	4648	broad.mit.edu	37	2	128389280	128389280	+	Missense_Mutation	SNP	A	A	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr2:128389280A>T	ENST00000409816.2	+	36	5155	c.5123A>T	c.(5122-5124)gAc>gTc	p.D1708V	MYO7B_ENST00000428314.1_Missense_Mutation_p.D1708V|MYO7B_ENST00000389524.4_Missense_Mutation_p.D1709V|MYO7B_ENST00000409090.1_Missense_Mutation_p.D561V			Q6PIF6	MYO7B_HUMAN	myosin VIIB	1708	MyTH4 2. {ECO:0000255|PROSITE- ProRule:PRU00359}.					extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|motor activity (GO:0003774)	p.D1952V(1)|p.D1708V(1)		breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(46)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1)	75	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0753)		GCCCTCCAGGACGAGGTCTAC	0.672																																						uc002top.2																			2	Substitution - Missense(2)		lung(2)	ovary(1)|pancreas(1)	2						c.(5122-5124)GAC>GTC		myosin VIIB							36.0	44.0	42.0					2																	128389280		2133	4243	6376	SO:0001583	missense	4648					apical plasma membrane|myosin complex	actin binding|ATP binding|motor activity	g.chr2:128389280A>T		CCDS46405.1	2q21.1	2011-09-27			ENSG00000169994	ENSG00000169994		"""Myosins / Myosin superfamily : Class VII"""	7607	protein-coding gene	gene with protein product		606541				8022818, 8884266	Standard	NM_001080527		Approved		uc002top.3	Q6PIF6	OTTHUMG00000153419	ENST00000409816.2:c.5123A>T	2.37:g.128389280A>T	ENSP00000386461:p.Asp1708Val					MYO7B_uc002tos.1_5'Flank|MYO7B_uc002tot.2_5'Flank	p.D1708V	NM_001080527	NP_001073996	Q6PIF6	MYO7B_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0753)	37	5176	+	Colorectal(110;0.1)		1708			MyTH4 2.		Q14786|Q8TEE1	Missense_Mutation	SNP	ENST00000409816.2	37	c.5123A>T	CCDS46405.1	.	.	.	.	.	.	.	.	.	.	a	20.7	4.036728	0.75617	.	.	ENSG00000169994	ENST00000389524;ENST00000428314;ENST00000272666;ENST00000409816;ENST00000409090	D;D;D;D	0.96334	-3.98;-3.98;-3.98;-3.98	5.23	5.23	0.72850	MyTH4 domain (3);	0.000000	0.85682	D	0.000000	D	0.98723	0.9571	H	0.96269	3.795	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99741	1.1015	10	0.87932	D	0	.	15.1267	0.72489	1.0:0.0:0.0:0.0	.	1708	Q6PIF6	MYO7B_HUMAN	V	1709;1708;804;1708;561	ENSP00000374175:D1709V;ENSP00000415090:D1708V;ENSP00000386461:D1708V;ENSP00000386850:D561V	ENSP00000272666:D804V	D	+	2	0	MYO7B	128105750	1.000000	0.71417	0.993000	0.49108	0.330000	0.28571	8.954000	0.93051	1.972000	0.57404	0.460000	0.39030	GAC		PASS	0.672	MYO7B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000331124.3	XM_291001		5	25	5	25	---	---	---	---
WDR33	55339	broad.mit.edu	37	2	128477377	128477377	+	Missense_Mutation	SNP	T	T	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr2:128477377T>A	ENST00000322313.4	-	16	2380	c.2222A>T	c.(2221-2223)cAg>cTg	p.Q741L		NM_018383.4	NP_060853.3	Q9C0J8	WDR33_HUMAN	WD repeat domain 33	741	Collagen-like.				mRNA processing (GO:0006397)|postreplication repair (GO:0006301)|spermatogenesis (GO:0007283)	collagen trimer (GO:0005581)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)	p.Q741L(1)		NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(9)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	39	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0695)		AGGTGGTCCCTGCATACCTTG	0.647																																						uc002tpg.1																			1	Substitution - Missense(1)		lung(1)		0						c.(2221-2223)CAG>CTG		WD repeat domain 33 isoform 1							57.0	66.0	63.0					2																	128477377		2202	4300	6502	SO:0001583	missense	55339				postreplication repair|spermatogenesis	collagen|nucleus	protein binding	g.chr2:128477377T>A		CCDS2150.1, CCDS42746.1, CCDS46407.1	2q21.1	2013-01-09			ENSG00000136709	ENSG00000136709		"""WD repeat domain containing"""	25651	protein-coding gene	gene with protein product						11162572	Standard	NM_001006622		Approved	FLJ11294, WDC146, NET14	uc002tpg.2	Q9C0J8	OTTHUMG00000131534	ENST00000322313.4:c.2222A>T	2.37:g.128477377T>A	ENSP00000325377:p.Gln741Leu						p.Q741L	NM_018383	NP_060853	Q9C0J8	WDR33_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0695)	16	2405	-	Colorectal(110;0.1)		741			Collagen-like.		Q05DP8|Q53FG9|Q587J1|Q69YF7|Q6NUQ0|Q9NUL1	Missense_Mutation	SNP	ENST00000322313.4	37	c.2222A>T	CCDS2150.1	.	.	.	.	.	.	.	.	.	.	T	13.68	2.310508	0.40895	.	.	ENSG00000136709	ENST00000322313	D	0.93604	-3.25	5.16	4.0	0.46444	.	0.154014	0.44902	D	0.000412	D	0.90769	0.7102	M	0.68317	2.08	0.80722	D	1	B	0.21688	0.059	B	0.17098	0.017	D	0.86889	0.2047	10	0.54805	T	0.06	-6.6228	8.3942	0.32546	0.0:0.1528:0.0:0.8472	.	741	Q9C0J8	WDR33_HUMAN	L	741	ENSP00000325377:Q741L	ENSP00000325377:Q741L	Q	-	2	0	WDR33	128193847	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	1.904000	0.39868	0.911000	0.36747	0.477000	0.44152	CAG		PASS	0.647	WDR33-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331141.2	NM_018383		30	103	30	103	---	---	---	---
CCDC74B	91409	broad.mit.edu	37	2	130897166	130897166	+	Missense_Mutation	SNP	C	C	G			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr2:130897166C>G	ENST00000310463.6	-	8	1242	c.1105G>C	c.(1105-1107)Gca>Cca	p.A369P	CCDC74B_ENST00000392984.3_Missense_Mutation_p.A471P|CCDC74B_ENST00000409943.3_Missense_Mutation_p.A303P|MED15P9_ENST00000427638.1_RNA	NM_207310.2	NP_997193.1	Q96LY2	CC74B_HUMAN	coiled-coil domain containing 74B	369								p.A369P(1)		endometrium(2)|large_intestine(1)|lung(3)	6	Colorectal(110;0.1)					TTCTGCATTGCCTGCAGCCTC	0.612																																						uc002tqm.1																			1	Substitution - Missense(1)		lung(1)		0						c.(1105-1107)GCA>CCA		coiled-coil domain containing 74B							40.0	40.0	40.0					2																	130897166		2203	4300	6503	SO:0001583	missense	91409							g.chr2:130897166C>G		CCDS2155.1, CCDS58726.1	2q21.1	2006-11-29		2006-02-16	ENSG00000152076	ENSG00000152076			25267	protein-coding gene	gene with protein product							Standard	NM_001258307		Approved	DKFZp434E2321	uc002tqn.2	Q96LY2	OTTHUMG00000131629	ENST00000310463.6:c.1105G>C	2.37:g.130897166C>G	ENSP00000308873:p.Ala369Pro					CCDC74B_uc010yzw.1_Missense_Mutation_p.A471P|CCDC74B_uc002tqn.1_Missense_Mutation_p.A303P	p.A369P	NM_207310	NP_997193	Q96LY2	CC74B_HUMAN			8	1167	-	Colorectal(110;0.1)		369					Q6NW18	Missense_Mutation	SNP	ENST00000310463.6	37	c.1105G>C	CCDS2155.1	.	.	.	.	.	.	.	.	.	.	.	17.28	3.348784	0.61183	.	.	ENSG00000152076	ENST00000409943;ENST00000310463;ENST00000392984	T;T;T	0.39056	1.1;1.1;1.1	4.16	4.16	0.48862	.	.	.	.	.	T	0.56292	0.1975	L	0.50333	1.59	0.33200	D	0.551979	D;D;D	0.69078	0.994;0.99;0.997	P;P;D	0.65010	0.857;0.885;0.931	T	0.67457	-0.5666	9	0.72032	D	0.01	.	14.3259	0.66521	0.0:1.0:0.0:0.0	.	471;303;369	E7ESC5;Q96LY2-2;Q96LY2	.;.;CC74B_HUMAN	P	303;369;471	ENSP00000386294:A303P;ENSP00000308873:A369P;ENSP00000376710:A471P	ENSP00000308873:A369P	A	-	1	0	CCDC74B	130613636	0.990000	0.36364	0.996000	0.52242	0.074000	0.17049	5.403000	0.66338	2.316000	0.78162	0.455000	0.32223	GCA		PASS	0.612	CCDC74B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254522.3	NM_207310		14	21	14	21	---	---	---	---
AMER3	205147	broad.mit.edu	37	2	131520578	131520578	+	Missense_Mutation	SNP	C	C	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr2:131520578C>A	ENST00000423981.1	+	2	1043	c.933C>A	c.(931-933)gaC>gaA	p.D311E	AMER3_ENST00000321420.4_Missense_Mutation_p.D311E	NM_001105193.1|NM_001105194.1|NM_001105195.1|NM_152698.2	NP_001098663.1|NP_001098664.1|NP_001098665.1|NP_689911.2	Q8N944	AMER3_HUMAN	APC membrane recruitment protein 3	311					Wnt signaling pathway (GO:0016055)	plasma membrane (GO:0005886)	lipid binding (GO:0008289)	p.D311E(1)									GGTTCTGGGACAGTGTGAATC	0.652																																						uc002trw.2																			1	Substitution - Missense(1)		lung(1)	pancreas(2)|ovary(1)	3						c.(931-933)GAC>GAA		hypothetical protein LOC205147							34.0	40.0	38.0					2																	131520578		2203	4300	6503	SO:0001583	missense	205147							g.chr2:131520578C>A	AK095696	CCDS2164.1	2q21.1	2012-12-03	2012-12-03	2012-12-03	ENSG00000178171	ENSG00000178171		"""-"""	26771	protein-coding gene	gene with protein product			"""family with sequence similarity 123C"""	FAM123C		20843316	Standard	NM_001105195		Approved	FLJ38377	uc002trw.2	Q8N944	OTTHUMG00000131637	ENST00000423981.1:c.933C>A	2.37:g.131520578C>A	ENSP00000392700:p.Asp311Glu					FAM123C_uc010fmv.2_Missense_Mutation_p.D311E|FAM123C_uc010fms.1_Missense_Mutation_p.D311E|FAM123C_uc010fmt.1_Missense_Mutation_p.D311E|FAM123C_uc010fmu.1_Missense_Mutation_p.D311E	p.D311E	NM_152698	NP_689911	Q8N944	F123C_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.13)	2	1123	+	Colorectal(110;0.1)		311					B7ZLH6	Missense_Mutation	SNP	ENST00000423981.1	37	c.933C>A	CCDS2164.1	.	.	.	.	.	.	.	.	.	.	C	9.999	1.232924	0.22626	.	.	ENSG00000178171	ENST00000321420;ENST00000423981	T;T	0.17528	2.27;2.27	5.21	2.39	0.29439	.	0.303912	0.30752	N	0.008947	T	0.13628	0.0330	L	0.39085	1.19	0.27071	N	0.963327	B	0.27559	0.181	B	0.30716	0.119	T	0.15752	-1.0426	10	0.40728	T	0.16	.	9.106	0.36698	0.0:0.644:0.2778:0.0782	.	311	Q8N944	F123C_HUMAN	E	311	ENSP00000314914:D311E;ENSP00000392700:D311E	ENSP00000314914:D311E	D	+	3	2	FAM123C	131237048	0.225000	0.23685	0.995000	0.50966	0.218000	0.24690	-0.175000	0.09825	0.284000	0.22305	-0.305000	0.09177	GAC		PASS	0.652	AMER3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254531.3	NM_152698		30	46	30	46	---	---	---	---
NCKAP5	344148	broad.mit.edu	37	2	133540424	133540424	+	Missense_Mutation	SNP	T	T	G			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr2:133540424T>G	ENST00000409261.1	-	14	4333	c.3960A>C	c.(3958-3960)gaA>gaC	p.E1320D	NCKAP5_ENST00000473859.1_5'Flank|NCKAP5_ENST00000317721.6_Missense_Mutation_p.E1320D|NCKAP5_ENST00000405974.3_Intron|NCKAP5_ENST00000409213.1_Intron	NM_207363.2	NP_997246.2	O14513	NCKP5_HUMAN	NCK-associated protein 5	1320								p.E1320D(1)		NS(4)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(29)|lung(51)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	118						TGGGAGAGCTTTCCGTGGAAG	0.612																																						uc002ttp.2																			1	Substitution - Missense(1)		lung(1)		0						c.(3958-3960)GAA>GAC		Nck-associated protein 5 isoform 1							58.0	56.0	57.0					2																	133540424		1896	4116	6012	SO:0001583	missense	344148						protein binding	g.chr2:133540424T>G	AB005217	CCDS46417.1, CCDS46418.1	2q21.2	2010-02-17			ENSG00000176771	ENSG00000176771			29847	protein-coding gene	gene with protein product	"""Nck associated protein 5"", ""peripheral clock protein"""	608789				9344857	Standard	NM_207363		Approved	NAP5, ERIH1, ERIH2	uc002ttp.3	O14513	OTTHUMG00000153573	ENST00000409261.1:c.3960A>C	2.37:g.133540424T>G	ENSP00000387128:p.Glu1320Asp					NCKAP5_uc002ttq.2_Intron	p.E1320D	NM_207363	NP_997246	O14513	NCKP5_HUMAN			14	4334	-			1320					B8ZZL0|Q29SS9|Q29ST0|Q2NL90|Q6ZVE2|Q8NAS3	Missense_Mutation	SNP	ENST00000409261.1	37	c.3960A>C	CCDS46418.1	.	.	.	.	.	.	.	.	.	.	T	3.667	-0.068229	0.07228	.	.	ENSG00000176771	ENST00000409261;ENST00000317721	T;T	0.12147	2.71;2.71	5.5	-4.55	0.03441	.	0.186248	0.25217	U	0.032273	T	0.07593	0.0191	N	0.20986	0.625	0.47153	D	0.999331	B	0.33448	0.412	B	0.39068	0.289	T	0.26815	-1.0092	10	0.21014	T	0.42	.	7.4363	0.27158	0.1101:0.3774:0.0:0.5125	.	1320	O14513	NCKP5_HUMAN	D	1320	ENSP00000387128:E1320D;ENSP00000380603:E1320D	ENSP00000380603:E1320D	E	-	3	2	NCKAP5	133256894	0.946000	0.32159	0.029000	0.17559	0.017000	0.09413	-0.081000	0.11321	-0.503000	0.06586	-0.290000	0.09829	GAA		PASS	0.612	NCKAP5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000331663.1	NM_207481		3	71	3	71	---	---	---	---
NCKAP5	344148	broad.mit.edu	37	2	133540837	133540837	+	Missense_Mutation	SNP	C	C	A	rs377582875		TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr2:133540837C>A	ENST00000409261.1	-	14	3920	c.3547G>T	c.(3547-3549)Gtg>Ttg	p.V1183L	NCKAP5_ENST00000473859.1_5'Flank|NCKAP5_ENST00000317721.6_Missense_Mutation_p.V1183L|NCKAP5_ENST00000405974.3_Intron|NCKAP5_ENST00000409213.1_Intron	NM_207363.2	NP_997246.2	O14513	NCKP5_HUMAN	NCK-associated protein 5	1183								p.V1183L(1)		NS(4)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(29)|lung(51)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	118						TTCACAGCCACGGAACTTTTG	0.483																																						uc002ttp.2																			1	Substitution - Missense(1)		lung(1)		0						c.(3547-3549)GTG>TTG		Nck-associated protein 5 isoform 1							74.0	73.0	73.0					2																	133540837		1912	4127	6039	SO:0001583	missense	344148						protein binding	g.chr2:133540837C>A	AB005217	CCDS46417.1, CCDS46418.1	2q21.2	2010-02-17			ENSG00000176771	ENSG00000176771			29847	protein-coding gene	gene with protein product	"""Nck associated protein 5"", ""peripheral clock protein"""	608789				9344857	Standard	NM_207363		Approved	NAP5, ERIH1, ERIH2	uc002ttp.3	O14513	OTTHUMG00000153573	ENST00000409261.1:c.3547G>T	2.37:g.133540837C>A	ENSP00000387128:p.Val1183Leu					NCKAP5_uc002ttq.2_Intron	p.V1183L	NM_207363	NP_997246	O14513	NCKP5_HUMAN			14	3921	-			1183					B8ZZL0|Q29SS9|Q29ST0|Q2NL90|Q6ZVE2|Q8NAS3	Missense_Mutation	SNP	ENST00000409261.1	37	c.3547G>T	CCDS46418.1	.	.	.	.	.	.	.	.	.	.	C	18.89	3.719085	0.68844	.	.	ENSG00000176771	ENST00000409261;ENST00000317721	T;T	0.18016	2.24;2.24	5.26	5.26	0.73747	.	0.236857	0.21142	U	0.079466	T	0.26593	0.0650	L	0.32530	0.975	0.80722	D	1	D	0.67145	0.996	P	0.56612	0.802	T	0.00398	-1.1764	10	0.39692	T	0.17	.	17.2449	0.87025	0.0:1.0:0.0:0.0	.	1183	O14513	NCKP5_HUMAN	L	1183	ENSP00000387128:V1183L;ENSP00000380603:V1183L	ENSP00000380603:V1183L	V	-	1	0	NCKAP5	133257307	0.758000	0.28405	0.445000	0.26908	0.547000	0.35210	4.482000	0.60257	2.739000	0.93911	0.655000	0.94253	GTG		PASS	0.483	NCKAP5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000331663.1	NM_207481		18	64	18	64	---	---	---	---
NCKAP5	344148	broad.mit.edu	37	2	133547683	133547683	+	Missense_Mutation	SNP	G	G	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr2:133547683G>T	ENST00000409261.1	-	13	1378	c.1005C>A	c.(1003-1005)agC>agA	p.S335R	NCKAP5_ENST00000317721.6_Missense_Mutation_p.S335R|NCKAP5_ENST00000405974.3_Missense_Mutation_p.S335R|NCKAP5_ENST00000409213.1_Missense_Mutation_p.S335R	NM_207363.2	NP_997246.2	O14513	NCKP5_HUMAN	NCK-associated protein 5	335	Ser-rich.							p.S174R(1)|p.S335R(1)		NS(4)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(29)|lung(51)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	118						ACAGTTCACTGCTGCTACTGT	0.522																																						uc002ttp.2																			2	Substitution - Missense(2)		lung(2)		0						c.(1003-1005)AGC>AGA		Nck-associated protein 5 isoform 1							82.0	88.0	86.0					2																	133547683		2071	4206	6277	SO:0001583	missense	344148						protein binding	g.chr2:133547683G>T	AB005217	CCDS46417.1, CCDS46418.1	2q21.2	2010-02-17			ENSG00000176771	ENSG00000176771			29847	protein-coding gene	gene with protein product	"""Nck associated protein 5"", ""peripheral clock protein"""	608789				9344857	Standard	NM_207363		Approved	NAP5, ERIH1, ERIH2	uc002ttp.3	O14513	OTTHUMG00000153573	ENST00000409261.1:c.1005C>A	2.37:g.133547683G>T	ENSP00000387128:p.Ser335Arg					NCKAP5_uc002ttq.2_Missense_Mutation_p.S335R	p.S335R	NM_207363	NP_997246	O14513	NCKP5_HUMAN			13	1379	-			335			Ser-rich.		B8ZZL0|Q29SS9|Q29ST0|Q2NL90|Q6ZVE2|Q8NAS3	Missense_Mutation	SNP	ENST00000409261.1	37	c.1005C>A	CCDS46418.1	.	.	.	.	.	.	.	.	.	.	G	18.25	3.581743	0.65992	.	.	ENSG00000176771	ENST00000409261;ENST00000409213;ENST00000317721;ENST00000405974;ENST00000537661	T;T;T;T	0.58060	2.08;0.36;2.08;0.36	5.23	3.29	0.37713	.	0.196730	0.23498	U	0.047531	T	0.52996	0.1769	N	0.14661	0.345	0.24958	N	0.991746	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	T	0.43909	-0.9362	10	0.72032	D	0.01	.	10.4373	0.44443	0.1737:0.0:0.8263:0.0	.	335;335	O14513-2;O14513	.;NCKP5_HUMAN	R	335	ENSP00000387128:S335R;ENSP00000386952:S335R;ENSP00000380603:S335R;ENSP00000385692:S335R	ENSP00000380603:S335R	S	-	3	2	NCKAP5	133264153	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	4.147000	0.58078	1.439000	0.47511	0.650000	0.86243	AGC		PASS	0.522	NCKAP5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000331663.1	NM_207481		16	30	16	30	---	---	---	---
TMEM163	81615	broad.mit.edu	37	2	135308166	135308166	+	Missense_Mutation	SNP	C	C	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr2:135308166C>A	ENST00000281924.6	-	4	497	c.433G>T	c.(433-435)Gtg>Ttg	p.V145L		NM_030923.4	NP_112185.1	Q8TC26	TM163_HUMAN	transmembrane protein 163	145						cell junction (GO:0030054)|early endosome membrane (GO:0031901)|integral component of synaptic vesicle membrane (GO:0030285)	zinc ion binding (GO:0008270)	p.V145L(1)		endometrium(1)|large_intestine(5)|lung(8)|stomach(1)|urinary_tract(1)	16				BRCA - Breast invasive adenocarcinoma(221;0.154)		GCAGAGTGCACAGCGGCCGCG	0.537																																						uc002ttx.2																			1	Substitution - Missense(1)		lung(1)		0						c.(433-435)GTG>TTG		transmembrane protein 163							111.0	106.0	108.0					2																	135308166		2203	4300	6503	SO:0001583	missense	81615					integral to membrane		g.chr2:135308166C>A		CCDS2172.1	2q21.3	2008-02-05			ENSG00000152128	ENSG00000152128			25380	protein-coding gene	gene with protein product						17623043	Standard	NM_030923		Approved	DKFZP566N034, SV31	uc002ttx.3	Q8TC26	OTTHUMG00000131713	ENST00000281924.6:c.433G>T	2.37:g.135308166C>A	ENSP00000281924:p.Val145Leu					TMEM163_uc002tty.2_RNA	p.V145L	NM_030923	NP_112185	Q8TC26	TM163_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.154)	4	499	-			145					Q53QM3|Q53SV7|Q69YH3|Q9UFG3	Missense_Mutation	SNP	ENST00000281924.6	37	c.433G>T	CCDS2172.1	.	.	.	.	.	.	.	.	.	.	C	15.94	2.980737	0.53827	.	.	ENSG00000152128	ENST00000281924;ENST00000537539	T	0.62639	0.01	5.58	5.58	0.84498	.	0.000000	0.85682	D	0.000000	T	0.74809	0.3765	L	0.54323	1.7	0.53688	D	0.999972	D	0.67145	0.996	D	0.76071	0.987	T	0.68911	-0.5284	10	0.22706	T	0.39	.	18.3542	0.90351	0.0:1.0:0.0:0.0	.	145	Q8TC26	TM163_HUMAN	L	145;84	ENSP00000281924:V145L	ENSP00000281924:V145L	V	-	1	0	TMEM163	135024636	1.000000	0.71417	0.925000	0.36789	0.152000	0.21847	5.426000	0.66476	2.640000	0.89533	0.563000	0.77884	GTG		PASS	0.537	TMEM163-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254631.2	NM_030923		30	58	30	58	---	---	---	---
MAP3K19	80122	broad.mit.edu	37	2	135741288	135741288	+	Silent	SNP	T	T	C			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr2:135741288T>C	ENST00000375845.3	-	8	3210	c.3180A>G	c.(3178-3180)ctA>ctG	p.L1060L	MAP3K19_ENST00000392915.1_Silent_p.L1077L|MAP3K19_ENST00000315513.3_5'UTR|MAP3K19_ENST00000375844.3_Silent_p.L242L|MAP3K19_ENST00000392917.3_Intron|MAP3K19_ENST00000392918.3_Silent_p.L242L|MAP3K19_ENST00000358371.4_Silent_p.L947L	NM_001018044.2|NM_025052.3	NP_001018054.1|NP_079328.3	Q56UN5	M3K19_HUMAN	mitogen-activated protein kinase kinase kinase 19	1060							ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)	p.L1060L(1)|p.L412L(1)									CCTTGGTCCATAGGATAGGTT	0.443																																						uc002tue.1																			2	Substitution - coding silent(2)		lung(2)	stomach(2)|urinary_tract(1)|ovary(1)|breast(1)	5						c.(3178-3180)CTA>CTG		Yeast Sps1/Ste20-related kinase 4 isoform 1							95.0	98.0	97.0					2																	135741288		2203	4300	6503	SO:0001819	synonymous_variant	80122						ATP binding|protein serine/threonine kinase activity	g.chr2:135741288T>C	AK026727	CCDS2176.2, CCDS33293.1, CCDS63021.1, CCDS63020.1, CCDS63022.1	2q21.3	2012-10-16	2012-10-16	2012-10-16	ENSG00000176601	ENSG00000176601		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	26249	protein-coding gene	gene with protein product			"""Yeast Sps1/Ste20-related kinase 4 (S. cerevisiae)"", ""yeast Sps1/Ste20-related kinase 4 (S. cerevisiae)"", ""YSK4 Sps1/Ste20-related kinase homolog (S. cerevisiae)"""	YSK4		12477932	Standard	NM_001282883		Approved	FLJ23074	uc002tue.1	Q56UN5	OTTHUMG00000074083	ENST00000375845.3:c.3180A>G	2.37:g.135741288T>C						YSK4_uc002tuf.1_Silent_p.L242L|YSK4_uc010fnc.1_Silent_p.L242L|YSK4_uc010fnd.1_Silent_p.L947L|YSK4_uc010zbg.1_Intron|YSK4_uc002tuh.3_Silent_p.L788L|YSK4_uc002tui.3_Silent_p.L1077L	p.L1060L	NM_025052	NP_079328	Q56UN5	YSK4_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.112)	8	3211	-			1060					B2RP57|B7ZMH9|E2QRE3|Q56UN1|Q56UN2|Q56UN3|Q56UN4|Q8N4E9|Q9H5T2	Silent	SNP	ENST00000375845.3	37	c.3180A>G	CCDS2176.2																																																																																				PASS	0.443	MAP3K19-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000158244.1	NM_025052		57	76	57	76	---	---	---	---
NXPH2	11249	broad.mit.edu	37	2	139428622	139428622	+	Missense_Mutation	SNP	C	C	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr2:139428622C>A	ENST00000272641.3	-	2	771	c.665G>T	c.(664-666)tGg>tTg	p.W222L		NM_007226.2	NP_009157.1	O95156	NXPH2_HUMAN	neurexophilin 2	222	V (Cys-rich).				neuropeptide signaling pathway (GO:0007218)	extracellular region (GO:0005576)		p.W222L(1)		endometrium(1)|large_intestine(3)|lung(6)|ovary(3)|prostate(3)|skin(3)|urinary_tract(3)	22				BRCA - Breast invasive adenocarcinoma(221;0.101)		GGAGCACAACCAAGACACATG	0.448																																						uc002tvi.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|skin(1)	4						c.(664-666)TGG>TTG		neurexophilin 2 precursor							86.0	84.0	85.0					2																	139428622		1911	4132	6043	SO:0001583	missense	11249				neuropeptide signaling pathway	extracellular region		g.chr2:139428622C>A	AF043467	CCDS46421.1	2q22.1	2008-05-15			ENSG00000144227	ENSG00000144227			8076	protein-coding gene	gene with protein product		604635				9570794	Standard	NM_007226		Approved	NPH2	uc002tvi.3	O95156	OTTHUMG00000153636	ENST00000272641.3:c.665G>T	2.37:g.139428622C>A	ENSP00000272641:p.Trp222Leu						p.W222L	NM_007226	NP_009157	O95156	NXPH2_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.101)	2	665	-			222			V (Cys-rich).		B7WP24|Q494R1|Q75QC3	Missense_Mutation	SNP	ENST00000272641.3	37	c.665G>T	CCDS46421.1	.	.	.	.	.	.	.	.	.	.	C	24.7	4.556804	0.86231	.	.	ENSG00000144227	ENST00000272641	.	.	.	5.51	5.51	0.81932	.	0.000000	0.85682	D	0.000000	D	0.83403	0.5247	M	0.79693	2.465	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.83168	-0.0095	8	.	.	.	-9.6439	19.7866	0.96442	0.0:1.0:0.0:0.0	.	222	O95156	NXPH2_HUMAN	L	222	.	.	W	-	2	0	NXPH2	139145092	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.776000	0.85560	2.756000	0.94617	0.655000	0.94253	TGG		PASS	0.448	NXPH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331901.1			10	53	10	53	---	---	---	---
NXPH2	11249	broad.mit.edu	37	2	139428799	139428799	+	Missense_Mutation	SNP	G	G	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr2:139428799G>T	ENST00000272641.3	-	2	594	c.488C>A	c.(487-489)cCc>cAc	p.P163H		NM_007226.2	NP_009157.1	O95156	NXPH2_HUMAN	neurexophilin 2	163	III.				neuropeptide signaling pathway (GO:0007218)	extracellular region (GO:0005576)		p.P163H(1)		endometrium(1)|large_intestine(3)|lung(6)|ovary(3)|prostate(3)|skin(3)|urinary_tract(3)	22				BRCA - Breast invasive adenocarcinoma(221;0.101)		CACCTTGGAGGGTGGTACCAA	0.443																																						uc002tvi.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|skin(1)	4						c.(487-489)CCC>CAC		neurexophilin 2 precursor							44.0	43.0	43.0					2																	139428799		1896	4118	6014	SO:0001583	missense	11249				neuropeptide signaling pathway	extracellular region		g.chr2:139428799G>T	AF043467	CCDS46421.1	2q22.1	2008-05-15			ENSG00000144227	ENSG00000144227			8076	protein-coding gene	gene with protein product		604635				9570794	Standard	NM_007226		Approved	NPH2	uc002tvi.3	O95156	OTTHUMG00000153636	ENST00000272641.3:c.488C>A	2.37:g.139428799G>T	ENSP00000272641:p.Pro163His						p.P163H	NM_007226	NP_009157	O95156	NXPH2_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.101)	2	488	-			163			III.		B7WP24|Q494R1|Q75QC3	Missense_Mutation	SNP	ENST00000272641.3	37	c.488C>A	CCDS46421.1	.	.	.	.	.	.	.	.	.	.	G	22.6	4.306460	0.81247	.	.	ENSG00000144227	ENST00000272641	.	.	.	5.66	5.66	0.87406	.	0.000000	0.85682	D	0.000000	D	0.83580	0.5285	M	0.80616	2.505	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.83121	-0.0118	8	.	.	.	-15.1428	20.1253	0.97977	0.0:0.0:1.0:0.0	.	163	O95156	NXPH2_HUMAN	H	163	.	.	P	-	2	0	NXPH2	139145269	1.000000	0.71417	0.998000	0.56505	0.976000	0.68499	9.813000	0.99286	2.832000	0.97577	0.655000	0.94253	CCC		PASS	0.443	NXPH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331901.1			10	40	10	40	---	---	---	---
LRP1B	53353	broad.mit.edu	37	2	141253291	141253291	+	Silent	SNP	C	C	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr2:141253291C>A	ENST00000389484.3	-	56	9848	c.8877G>T	c.(8875-8877)ctG>ctT	p.L2959L		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	2959	EGF-like 11. {ECO:0000255|PROSITE- ProRule:PRU00076}.				protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|low-density lipoprotein receptor activity (GO:0005041)	p.L2959L(1)		NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		CGTCATCCTTCAGTTGGAATC	0.408										TSP Lung(27;0.18)																											Colon(99;50 2074 2507 20106)	uc002tvj.1																			1	Substitution - coding silent(1)		lung(1)	lung(17)|skin(12)|ovary(12)|pancreas(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|liver(1)|kidney(1)	50						c.(8875-8877)CTG>CTT		low density lipoprotein-related protein 1B							105.0	93.0	97.0					2																	141253291		2203	4300	6503	SO:0001819	synonymous_variant	53353				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	g.chr2:141253291C>A	AF176832	CCDS2182.1	2q21.2	2013-05-29	2010-01-26		ENSG00000168702	ENSG00000168702		"""Low density lipoprotein receptors"""	6693	protein-coding gene	gene with protein product	"""LRP-deleted in tumors"""	608766				10766186	Standard	NM_018557		Approved	LRP-DIT, LRPDIT	uc002tvj.1	Q9NZR2	OTTHUMG00000131799	ENST00000389484.3:c.8877G>T	2.37:g.141253291C>A		TSP Lung(27;0.18)					p.L2959L	NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)	56	9849	-		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)	2959			Extracellular (Potential).|EGF-like 6.		Q8WY29|Q8WY30|Q8WY31	Silent	SNP	ENST00000389484.3	37	c.8877G>T	CCDS2182.1																																																																																				PASS	0.408	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254736.2	NM_018557		8	57	8	57	---	---	---	---
LRP1B	53353	broad.mit.edu	37	2	141571229	141571229	+	Missense_Mutation	SNP	T	T	C			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr2:141571229T>C	ENST00000389484.3	-	32	6327	c.5356A>G	c.(5356-5358)Atg>Gtg	p.M1786V		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	1786					protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|low-density lipoprotein receptor activity (GO:0005041)	p.M1786V(1)		NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		CACTTACCCATGATGGTTAGG	0.363										TSP Lung(27;0.18)																											Colon(99;50 2074 2507 20106)	uc002tvj.1																			1	Substitution - Missense(1)		lung(1)	lung(17)|skin(12)|ovary(12)|pancreas(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|liver(1)|kidney(1)	50						c.(5356-5358)ATG>GTG		low density lipoprotein-related protein 1B							159.0	143.0	149.0					2																	141571229		2203	4300	6503	SO:0001583	missense	53353				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	g.chr2:141571229T>C	AF176832	CCDS2182.1	2q21.2	2013-05-29	2010-01-26		ENSG00000168702	ENSG00000168702		"""Low density lipoprotein receptors"""	6693	protein-coding gene	gene with protein product	"""LRP-deleted in tumors"""	608766				10766186	Standard	NM_018557		Approved	LRP-DIT, LRPDIT	uc002tvj.1	Q9NZR2	OTTHUMG00000131799	ENST00000389484.3:c.5356A>G	2.37:g.141571229T>C	ENSP00000374135:p.Met1786Val	TSP Lung(27;0.18)					p.M1786V	NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)	32	6328	-		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)	1786			Extracellular (Potential).|LDL-receptor class B 17.		Q8WY29|Q8WY30|Q8WY31	Missense_Mutation	SNP	ENST00000389484.3	37	c.5356A>G	CCDS2182.1	.	.	.	.	.	.	.	.	.	.	T	13.92	2.381314	0.42207	.	.	ENSG00000168702	ENST00000389484;ENST00000544579	D	0.90788	-2.73	5.83	5.83	0.93111	Six-bladed beta-propeller, TolB-like (1);	0.000000	0.85682	D	0.000000	D	0.86451	0.5936	L	0.45698	1.435	0.54753	D	0.999983	B	0.09022	0.002	B	0.09377	0.004	T	0.81758	-0.0786	10	0.39692	T	0.17	.	10.5292	0.44967	0.0:0.072:0.0:0.928	.	1786	Q9NZR2	LRP1B_HUMAN	V	1786;1724	ENSP00000374135:M1786V	ENSP00000374135:M1786V	M	-	1	0	LRP1B	141287699	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.246000	0.72405	2.226000	0.72624	0.533000	0.62120	ATG		PASS	0.363	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254736.2	NM_018557		36	84	36	84	---	---	---	---
GTDC1	79712	broad.mit.edu	37	2	144899607	144899607	+	Silent	SNP	C	C	G			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr2:144899607C>G	ENST00000392869.2	-	5	515	c.363G>C	c.(361-363)gtG>gtC	p.V121V	GTDC1_ENST00000409214.1_Silent_p.V121V|GTDC1_ENST00000542155.1_Silent_p.V121V|GTDC1_ENST00000463875.2_5'UTR|GTDC1_ENST00000344850.4_Silent_p.V121V|GTDC1_ENST00000392867.3_Silent_p.V121V|GTDC1_ENST00000241391.5_Silent_p.V121V|GTDC1_ENST00000409298.1_Silent_p.V121V	NM_001284234.1	NP_001271163.1	Q4AE62	GTDC1_HUMAN	glycosyltransferase-like domain containing 1	121					biosynthetic process (GO:0009058)		transferase activity, transferring glycosyl groups (GO:0016757)	p.V121V(1)		central_nervous_system(1)|endometrium(1)|large_intestine(4)|liver(1)|lung(17)|ovary(1)	25				BRCA - Breast invasive adenocarcinoma(221;0.0914)		TGAATACAACCACATCAGCCA	0.378																																						uc002tvp.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(361-363)GTG>GTC		glycosyltransferase-like domain containing 1							42.0	45.0	44.0					2																	144899607		2203	4299	6502	SO:0001819	synonymous_variant	79712				biosynthetic process		transferase activity, transferring glycosyl groups	g.chr2:144899607C>G	AY281366	CCDS2185.1, CCDS33300.1, CCDS63029.1, CCDS74582.1, CCDS74583.1	2q22.3	2013-02-22			ENSG00000121964	ENSG00000121964		"""Glycosyltransferase group 1 domain containing"""	20887	protein-coding gene	gene with protein product	"""mannosyltransferase-like"""	610165				15068588, 21821951	Standard	NM_024659		Approved	FLJ11753, Hmat-Xa	uc010fnn.3	Q4AE62	OTTHUMG00000131835	ENST00000392869.2:c.363G>C	2.37:g.144899607C>G						GTDC1_uc002tvo.2_Silent_p.V121V|GTDC1_uc002tvq.2_Silent_p.V121V|GTDC1_uc002tvr.2_Silent_p.V121V|GTDC1_uc010fnn.2_Silent_p.V121V|GTDC1_uc002tvs.2_Silent_p.V89V|GTDC1_uc010fno.2_5'UTR|GTDC1_uc002tvt.1_Silent_p.V121V	p.V121V	NM_001006636	NP_001006637	Q4AE62	GTDC1_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0914)	6	642	-			121					A8K5P2|D3DP81|Q53SM7|Q53TC5|Q6P7E7|Q6PJB6|Q6WKW6|Q9HAE5	Silent	SNP	ENST00000392869.2	37	c.363G>C	CCDS33300.1																																																																																				PASS	0.378	GTDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254779.2	NM_024659		27	47	27	47	---	---	---	---
NEB	4703	broad.mit.edu	37	2	152404000	152404000	+	Silent	SNP	A	A	C			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr2:152404000A>C	ENST00000172853.10	-	105	15354	c.15207T>G	c.(15205-15207)tcT>tcG	p.S5069S	NEB_ENST00000397345.3_Silent_p.S6770S|NEB_ENST00000604864.1_Silent_p.S6770S|NEB_ENST00000603639.1_Silent_p.S6770S|NEB_ENST00000409198.1_Silent_p.S5069S|NEB_ENST00000427231.2_Silent_p.S6770S			P20929	NEBU_HUMAN	nebulin	5069					muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|regulation of actin filament length (GO:0030832)|somatic muscle development (GO:0007525)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Z disc (GO:0030018)	structural constituent of muscle (GO:0008307)	p.S5069S(1)|p.S6770S(1)		NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		TGTATGGCAGAGAGATCATGT	0.423																																						uc010fnx.2																			2	Substitution - coding silent(2)		lung(2)	ovary(8)|large_intestine(5)|breast(3)|central_nervous_system(2)|skin(1)|pancreas(1)	20						c.(15205-15207)TCT>TCG		nebulin isoform 3							50.0	50.0	50.0					2																	152404000		1952	4164	6116	SO:0001819	synonymous_variant	4703				muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle	g.chr2:152404000A>C	X83957	CCDS46424.1, CCDS54407.1, CCDS54408.1, CCDS74588.1	2q22	2014-09-17			ENSG00000183091	ENSG00000183091			7720	protein-coding gene	gene with protein product	"""nemaline myopathy type 2"""	161650		NEM2		10051637, 9359044	Standard	NM_001164507		Approved	NEB177D	uc010fnx.3	P20929	OTTHUMG00000153784	ENST00000172853.10:c.15207T>G	2.37:g.152404000A>C						NEB_uc002txr.2_Silent_p.S1492S	p.S5069S	NM_004543	NP_004534	P20929	NEBU_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.219)	105	15398	-			5069			Nebulin 139.		F8WCL5|F8WCP0|Q15346|Q53QQ2|Q53TG8	Silent	SNP	ENST00000172853.10	37	c.15207T>G																																																																																					PASS	0.423	NEB-201	KNOWN	basic	protein_coding	protein_coding		NM_004543		3	16	3	16	---	---	---	---
GALNT13	114805	broad.mit.edu	37	2	155115539	155115539	+	Missense_Mutation	SNP	C	C	G			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr2:155115539C>G	ENST00000392825.3	+	8	1430	c.863C>G	c.(862-864)cCt>cGt	p.P288R	GALNT13_ENST00000487047.1_3'UTR|GALNT13_ENST00000409237.1_Missense_Mutation_p.P288R	NM_052917.2	NP_443149.2	Q8IUC8	GLT13_HUMAN	polypeptide N-acetylgalactosaminyltransferase 13	288	Catalytic subdomain B.				cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)	p.P288R(1)		NS(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(6)|lung(37)|ovary(3)|pancreas(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	65						ACTAGGACCCCTACTATGGCT	0.353																																						uc002tyr.3																			1	Substitution - Missense(1)		lung(1)	ovary(2)|pancreas(2)|central_nervous_system(1)|skin(1)	6						c.(862-864)CCT>CGT		UDP-N-acetyl-alpha-D-galactosamine:polypeptide							68.0	73.0	71.0					2																	155115539		2203	4299	6502	SO:0001583	missense	114805					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	g.chr2:155115539C>G	AB067505	CCDS2199.1	2q24.1	2014-03-13	2014-03-13		ENSG00000144278	ENSG00000144278	2.4.1.41	"""Glycosyltransferase family 2 domain containing"""	23242	protein-coding gene	gene with protein product	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 13"", ""polypeptide GalNAc transferase 13"""	608369	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 13 (GalNAc-T13)"""			11572484, 12407114	Standard	XM_005246267		Approved	KIAA1918, GalNAc-T13	uc002tyr.4	Q8IUC8	OTTHUMG00000131917	ENST00000392825.3:c.863C>G	2.37:g.155115539C>G	ENSP00000376570:p.Pro288Arg					GALNT13_uc002tyt.3_Missense_Mutation_p.P288R|GALNT13_uc010foc.1_Missense_Mutation_p.P107R|GALNT13_uc010fod.2_Missense_Mutation_p.P41R	p.P288R	NM_052917	NP_443149	Q8IUC8	GLT13_HUMAN			8	1430	+			288			Catalytic subdomain B.|Lumenal (Potential).		Q08ER7|Q68VI8|Q6ZWG1|Q96PX0|Q9UIE5	Missense_Mutation	SNP	ENST00000392825.3	37	c.863C>G	CCDS2199.1	.	.	.	.	.	.	.	.	.	.	C	23.2	4.385961	0.82902	.	.	ENSG00000144278	ENST00000392825;ENST00000409237	T;T	0.61510	0.1;0.1	5.85	5.85	0.93711	Glycosyl transferase, family 2 (1);	0.000000	0.85682	D	0.000000	D	0.87111	0.6096	H	0.99325	4.515	0.80722	D	1	D;D;D;D	0.89917	1.0;0.999;0.999;0.999	D;D;D;D	0.80764	0.994;0.985;0.977;0.994	D	0.92089	0.5679	10	0.87932	D	0	.	19.1513	0.93491	0.0:1.0:0.0:0.0	.	288;288;288;288	Q8IUC8-2;B3KY85;Q08ER7;Q8IUC8	.;.;.;GLT13_HUMAN	R	288	ENSP00000376570:P288R;ENSP00000387239:P288R	ENSP00000376570:P288R	P	+	2	0	GALNT13	154823785	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.787000	0.85759	2.772000	0.95346	0.650000	0.86243	CCT		PASS	0.353	GALNT13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254870.2	NM_052917		10	47	10	47	---	---	---	---
KCNJ3	3760	broad.mit.edu	37	2	155711481	155711481	+	Missense_Mutation	SNP	T	T	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr2:155711481T>A	ENST00000295101.2	+	3	1639	c.1162T>A	c.(1162-1164)Tgc>Agc	p.C388S	KCNJ3_ENST00000493505.1_3'UTR|KCNJ3_ENST00000544049.1_3'UTR	NM_001260509.1|NM_002239.3	NP_001247438.1|NP_002230.1	P48549	KCNJ3_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 3	388					potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|response to electrical stimulus (GO:0051602)|synaptic transmission (GO:0007268)	external side of plasma membrane (GO:0009897)|plasma membrane (GO:0005886)|T-tubule (GO:0030315)|voltage-gated potassium channel complex (GO:0008076)	G-protein activated inward rectifier potassium channel activity (GO:0015467)	p.C388S(1)		breast(2)|endometrium(2)|kidney(3)|large_intestine(9)|lung(30)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	54					Halothane(DB01159)	TTCTGTGGAATGCTTAGATGG	0.393																																						uc002tyv.1																			1	Substitution - Missense(1)		lung(1)	upper_aerodigestive_tract(1)|pancreas(1)	2						c.(1162-1164)TGC>AGC		potassium inwardly-rectifying channel J3	Halothane(DB01159)						116.0	122.0	120.0					2																	155711481		2203	4300	6503	SO:0001583	missense	3760				synaptic transmission	voltage-gated potassium channel complex	G-protein activated inward rectifier potassium channel activity|protein binding	g.chr2:155711481T>A	U50964	CCDS2200.1, CCDS58733.1	2q24.1	2011-07-05			ENSG00000162989	ENSG00000162989		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Inwardly rectifying"""	6264	protein-coding gene	gene with protein product		601534				8088798, 16382105	Standard	NM_002239		Approved	Kir3.1, GIRK1, KGA	uc002tyv.2	P48549	OTTHUMG00000131937	ENST00000295101.2:c.1162T>A	2.37:g.155711481T>A	ENSP00000295101:p.Cys388Ser					KCNJ3_uc010zce.1_3'UTR	p.C388S	NM_002239	NP_002230	P48549	IRK3_HUMAN			3	1357	+			388			Cytoplasmic (By similarity).		B4DEW7|Q8TBI0	Missense_Mutation	SNP	ENST00000295101.2	37	c.1162T>A	CCDS2200.1	.	.	.	.	.	.	.	.	.	.	T	14.23	2.472971	0.43942	.	.	ENSG00000162989	ENST00000295101	D	0.89343	-2.5	5.86	5.86	0.93980	.	0.044715	0.85682	D	0.000000	T	0.81403	0.4815	N	0.24115	0.695	0.80722	D	1	B	0.23442	0.085	B	0.16722	0.016	T	0.76793	-0.2828	10	0.17832	T	0.49	.	15.435	0.75140	0.0:0.0:0.0:1.0	.	388	P48549	IRK3_HUMAN	S	388	ENSP00000295101:C388S	ENSP00000295101:C388S	C	+	1	0	KCNJ3	155419727	1.000000	0.71417	0.964000	0.40570	0.999000	0.98932	5.024000	0.64090	2.244000	0.73946	0.528000	0.53228	TGC		PASS	0.393	KCNJ3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254890.2	NM_002239		39	167	39	167	---	---	---	---
GALNT5	11227	broad.mit.edu	37	2	158142595	158142595	+	Nonsense_Mutation	SNP	G	G	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr2:158142595G>T	ENST00000259056.4	+	3	2175	c.1690G>T	c.(1690-1692)Gag>Tag	p.E564*		NM_014568.1	NP_055383.1	Q7Z7M9	GALT5_HUMAN	polypeptide N-acetylgalactosaminyltransferase 5	564	Catalytic subdomain A.				cellular protein metabolic process (GO:0044267)|glycosaminoglycan biosynthetic process (GO:0006024)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)	p.E564*(1)		breast(4)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(12)|lung(20)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	56						TCGCCTCAAAGAGAGACATGG	0.348																																						uc002tzg.2																			1	Substitution - Nonsense(1)		lung(1)	breast(3)|skin(1)	4						c.(1690-1692)GAG>TAG		N-acetylgalactosaminyltransferase 5							73.0	79.0	77.0					2																	158142595		2203	4300	6503	SO:0001587	stop_gained	11227				glycosaminoglycan biosynthetic process	Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	g.chr2:158142595G>T	AJ245539	CCDS2203.1	2q24.1	2014-03-13	2014-03-13		ENSG00000136542	ENSG00000136542	2.4.1.41	"""Glycosyltransferase family 2 domain containing"""	4127	protein-coding gene	gene with protein product	"""polypeptide GalNAc transferase 5"""	615129	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 5 (GalNAc-T5)"""			10545594	Standard	NM_014568		Approved	GalNAc-T5	uc002tzg.3	Q7Z7M9	OTTHUMG00000131965	ENST00000259056.4:c.1690G>T	2.37:g.158142595G>T	ENSP00000259056:p.Glu564*					GALNT5_uc010zci.1_RNA	p.E564*	NM_014568	NP_055383	Q7Z7M9	GALT5_HUMAN			3	1945	+			564			Catalytic subdomain A.|Lumenal (Potential).		A5PKZ1|Q9UGK7|Q9UHL6	Nonsense_Mutation	SNP	ENST00000259056.4	37	c.1690G>T	CCDS2203.1	.	.	.	.	.	.	.	.	.	.	G	45	11.407477	0.99557	.	.	ENSG00000136542	ENST00000259056	.	.	.	5.87	5.87	0.94306	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.20046	T	0.44	.	19.8132	0.96556	0.0:0.0:1.0:0.0	.	.	.	.	X	564	.	ENSP00000259056:E564X	E	+	1	0	GALNT5	157850841	1.000000	0.71417	1.000000	0.80357	0.955000	0.61496	7.632000	0.83247	2.785000	0.95823	0.655000	0.94253	GAG		PASS	0.348	GALNT5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254925.2	NM_014568		34	71	34	71	---	---	---	---
CCDC148	130940	broad.mit.edu	37	2	159028705	159028705	+	Missense_Mutation	SNP	A	A	G			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr2:159028705A>G	ENST00000283233.5	-	14	2009	c.1696T>C	c.(1696-1698)Tat>Cat	p.Y566H	CCDC148-AS1_ENST00000412781.2_RNA|CCDC148_ENST00000409187.1_Missense_Mutation_p.Y575H	NM_138803.3	NP_620158.3	Q8NFR7	CC148_HUMAN	coiled-coil domain containing 148	566								p.Y566H(1)		endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	23						TCTTTAGCATAAAGTGTTCTA	0.323																																						uc002tzq.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(1696-1698)TAT>CAT		coiled-coil domain containing 148							63.0	65.0	64.0					2																	159028705		2202	4299	6501	SO:0001583	missense	130940							g.chr2:159028705A>G		CCDS33304.1	2q24.1	2007-12-07			ENSG00000153237	ENSG00000153237			25191	protein-coding gene	gene with protein product							Standard	NM_138803		Approved	MGC125588	uc002tzq.3	Q8NFR7	OTTHUMG00000153973	ENST00000283233.5:c.1696T>C	2.37:g.159028705A>G	ENSP00000283233:p.Tyr566His					CCDC148_uc002tzr.2_Missense_Mutation_p.Y414H|CCDC148_uc010foh.2_Missense_Mutation_p.Y279H	p.Y566H	NM_138803	NP_620158	Q8NFR7	CC148_HUMAN			14	1959	-			566					F5H839|Q3B7I3|Q3B7I4|Q3KR41|Q4ZG12|Q4ZG23|Q53TM6|Q96BN5|Q96LM2	Missense_Mutation	SNP	ENST00000283233.5	37	c.1696T>C	CCDS33304.1	.	.	.	.	.	.	.	.	.	.	A	21.8	4.200294	0.79015	.	.	ENSG00000153237	ENST00000283233;ENST00000409187	T;T	0.60040	0.23;0.22	5.78	5.78	0.91487	.	.	.	.	.	T	0.76557	0.4004	M	0.77103	2.36	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	T	0.79799	-0.1651	9	0.87932	D	0	-12.8277	14.9385	0.70975	1.0:0.0:0.0:0.0	.	575;566	B8ZZV3;Q8NFR7	.;CC148_HUMAN	H	566;575	ENSP00000283233:Y566H;ENSP00000386674:Y575H	ENSP00000283233:Y566H	Y	-	1	0	CCDC148	158736951	1.000000	0.71417	0.997000	0.53966	0.854000	0.48673	7.165000	0.77544	2.205000	0.71048	0.454000	0.30748	TAT		PASS	0.323	CCDC148-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000333270.1	NM_138803		27	122	27	122	---	---	---	---
BAZ2B	29994	broad.mit.edu	37	2	160304783	160304783	+	Nonsense_Mutation	SNP	C	C	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr2:160304783C>A	ENST00000392783.2	-	5	967	c.472G>T	c.(472-474)Gga>Tga	p.G158*	BAZ2B_ENST00000392782.1_Nonsense_Mutation_p.G156*|BAZ2B_ENST00000355831.2_Nonsense_Mutation_p.G158*|BAZ2B_ENST00000343439.5_Nonsense_Mutation_p.G156*	NM_013450.2	NP_038478.2	Q9UIF8	BAZ2B_HUMAN	bromodomain adjacent to zinc finger domain, 2B	158	Ser-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)	p.G158*(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(7)|liver(2)|lung(41)|ovary(3)|prostate(1)|skin(2)|soft_tissue(1)|urinary_tract(1)	82						TTACTTTTTCCCGAAGTCCTT	0.378																																						uc002uao.2																			1	Substitution - Nonsense(1)		lung(1)	ovary(3)|skin(1)	4						c.(472-474)GGA>TGA		bromodomain adjacent to zinc finger domain, 2B							122.0	116.0	118.0					2																	160304783		1857	4097	5954	SO:0001587	stop_gained	29994				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding	g.chr2:160304783C>A	AB032255	CCDS2209.2, CCDS74594.1	2q24.2	2013-01-28			ENSG00000123636	ENSG00000123636		"""Zinc fingers, PHD-type"""	963	protein-coding gene	gene with protein product		605683				10662543	Standard	XM_005246488		Approved	WALp4	uc002uao.3	Q9UIF8	OTTHUMG00000132027	ENST00000392783.2:c.472G>T	2.37:g.160304783C>A	ENSP00000376534:p.Gly158*					BAZ2B_uc002uap.2_Nonsense_Mutation_p.G156*|BAZ2B_uc002uas.1_Nonsense_Mutation_p.G95*|BAZ2B_uc002uau.1_Nonsense_Mutation_p.G156*|BAZ2B_uc002uaq.1_Nonsense_Mutation_p.G86*|BAZ2B_uc002uat.3_Nonsense_Mutation_p.G95*|BAZ2B_uc010fop.1_Nonsense_Mutation_p.G156*	p.G158*	NM_013450	NP_038478	Q9UIF8	BAZ2B_HUMAN			5	824	-			158			Ser-rich.		D3DPA8|Q96EA1|Q96SQ8|Q9P252|Q9Y4N8	Nonsense_Mutation	SNP	ENST00000392783.2	37	c.472G>T	CCDS2209.2	.	.	.	.	.	.	.	.	.	.	C	37	6.394666	0.97533	.	.	ENSG00000123636	ENST00000392782;ENST00000392783;ENST00000355831;ENST00000343439;ENST00000546335	.	.	.	5.68	5.68	0.88126	.	0.000000	0.32041	U	0.006665	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-10.8081	19.7803	0.96413	0.0:1.0:0.0:0.0	.	.	.	.	X	156;158;158;156;95	.	ENSP00000339670:G156X	G	-	1	0	BAZ2B	160013029	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	3.385000	0.52485	2.686000	0.91538	0.555000	0.69702	GGA		PASS	0.378	BAZ2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255037.2			25	134	25	134	---	---	---	---
LY75	4065	broad.mit.edu	37	2	160741801	160741801	+	Missense_Mutation	SNP	C	C	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr2:160741801C>A	ENST00000263636.4	-	6	944	c.917G>T	c.(916-918)aGg>aTg	p.R306M	LY75-CD302_ENST00000504764.1_Missense_Mutation_p.R306M|LY75-CD302_ENST00000505052.1_Missense_Mutation_p.R306M|LY75_ENST00000553424.1_Missense_Mutation_p.R306M|LY75_ENST00000554112.1_Missense_Mutation_p.R306M	NM_002349.3	NP_002340.2	O60449	LY75_HUMAN	lymphocyte antigen 75	306	C-type lectin 1. {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.R306M(1)		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)		TGCACTGGGCCTGTCTTAAAA	0.428																																						uc002ubc.3																			1	Substitution - Missense(1)		lung(1)		0						c.(916-918)AGG>ATG		lymphocyte antigen 75 precursor							94.0	98.0	97.0					2																	160741801		2203	4300	6503	SO:0001583	missense	4065				endocytosis|immune response|inflammatory response	integral to plasma membrane	receptor activity|sugar binding	g.chr2:160741801C>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.917G>T	2.37:g.160741801C>A	ENSP00000263636:p.Arg306Met					LY75_uc002ubb.3_Missense_Mutation_p.R306M|LY75_uc010fos.2_Missense_Mutation_p.R306M|LY75_uc010fot.1_Missense_Mutation_p.R306M	p.R306M	NM_002349	NP_002340	O60449	LY75_HUMAN		COAD - Colon adenocarcinoma(177;0.132)	6	986	-			306			Extracellular (Potential).|C-type lectin 1.		O75913|Q53R46|Q53TF5|Q7Z575|Q7Z577	Missense_Mutation	SNP	ENST00000263636.4	37	c.917G>T	CCDS2211.1	.	.	.	.	.	.	.	.	.	.	C	6.290	0.421578	0.11928	.	.	ENSG00000054219;ENSG00000054219;ENSG00000054219;ENSG00000248672;ENSG00000248672	ENST00000554112;ENST00000553424;ENST00000263636;ENST00000504764;ENST00000505052	T;T;T;T;T	0.54479	0.57;0.57;0.57;0.57;0.57	5.77	-0.934	0.10428	C-type lectin fold (1);C-type lectin-like (1);C-type lectin (3);	0.976771	0.08318	N	0.964289	T	0.19604	0.0471	N	0.01640	-0.785	0.09310	N	1	B;B;B	0.09022	0.002;0.001;0.001	B;B;B	0.10450	0.005;0.004;0.003	T	0.15009	-1.0452	10	0.27785	T	0.31	0.1285	1.7077	0.02885	0.5237:0.1338:0.223:0.1194	.	306;306;306	O60449-3;O60449;O60449-2	.;LY75_HUMAN;.	M	306	ENSP00000451511:R306M;ENSP00000451446:R306M;ENSP00000263636:R306M;ENSP00000423463:R306M;ENSP00000421035:R306M	ENSP00000423463:R306M	R	-	2	0	LY75;LY75-CD302	160450047	0.000000	0.05858	0.001000	0.08648	0.341000	0.28922	-0.014000	0.12656	-0.109000	0.12044	0.650000	0.86243	AGG		PASS	0.428	LY75-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000255035.1			71	137	71	137	---	---	---	---
SCN3A	6328	broad.mit.edu	37	2	166027021	166027021	+	Missense_Mutation	SNP	C	C	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr2:166027021C>A	ENST00000360093.3	-	4	793	c.302G>T	c.(301-303)cGa>cTa	p.R101L	SCN3A_ENST00000409101.3_Missense_Mutation_p.R101L|SCN3A_ENST00000283254.7_Missense_Mutation_p.R101L	NM_001081677.1	NP_001075146.1	Q9NY46	SCN3A_HUMAN	sodium channel, voltage-gated, type III, alpha subunit	101					membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)	p.R101L(2)		NS(1)|breast(7)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(19)|liver(2)|lung(47)|ovary(6)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(3)	120					Lacosamide(DB06218)|Valproic Acid(DB00313)|Zonisamide(DB00909)	GGCACTGAATCGGAAAATTGC	0.308																																						uc002ucx.2																			2	Substitution - Missense(2)		lung(2)	ovary(4)|breast(3)|skin(2)|central_nervous_system(1)	10						c.(301-303)CGA>CTA		sodium channel, voltage-gated, type III, alpha	Lamotrigine(DB00555)						51.0	52.0	52.0					2																	166027021		2203	4293	6496	SO:0001583	missense	6328					voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr2:166027021C>A	AF035685	CCDS33312.1, CCDS46440.1	2q24	2012-02-26	2007-01-23		ENSG00000153253	ENSG00000153253		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10590	protein-coding gene	gene with protein product		182391	"""sodium channel, voltage-gated, type III, alpha polypeptide"""			9589372, 16382098	Standard	NM_001081676		Approved	Nav1.3	uc002ucx.3	Q9NY46	OTTHUMG00000044171	ENST00000360093.3:c.302G>T	2.37:g.166027021C>A	ENSP00000353206:p.Arg101Leu					SCN3A_uc002ucy.2_Missense_Mutation_p.R101L|SCN3A_uc002ucz.2_Missense_Mutation_p.R101L|SCN3A_uc002uda.1_5'Flank|SCN3A_uc002udb.1_5'Flank	p.R101L	NM_006922	NP_008853	Q9NY46	SCN3A_HUMAN			4	794	-			101					Q16142|Q53SX0|Q9BZB3|Q9C006|Q9NYK2|Q9P2J1|Q9UPD1|Q9Y6P4	Missense_Mutation	SNP	ENST00000360093.3	37	c.302G>T		.	.	.	.	.	.	.	.	.	.	C	24.3	4.520098	0.85495	.	.	ENSG00000153253	ENST00000360093;ENST00000283254;ENST00000409101;ENST00000440431;ENST00000453007	D;D;D;D;D	0.97906	-4.6;-4.6;-4.56;-4.39;-3.81	4.97	4.97	0.65823	.	0.000000	0.47093	D	0.000253	D	0.99152	0.9707	H	0.95816	3.725	0.80722	D	1	D;D;D	0.67145	0.994;0.995;0.996	D;D;D	0.79108	0.966;0.949;0.992	D	0.99194	1.0871	10	0.87932	D	0	.	18.5973	0.91234	0.0:1.0:0.0:0.0	.	101;101;101	Q9NY46-2;Q9NY46-4;Q9NY46-3	.;.;.	L	101	ENSP00000353206:R101L;ENSP00000283254:R101L;ENSP00000386726:R101L;ENSP00000403348:R101L;ENSP00000391569:R101L	ENSP00000283254:R101L	R	-	2	0	SCN3A	165735267	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.776000	0.85560	2.443000	0.82685	0.650000	0.86243	CGA		PASS	0.308	SCN3A-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_006922		62	65	62	65	---	---	---	---
SCN2A	6326	broad.mit.edu	37	2	166245798	166245798	+	Missense_Mutation	SNP	C	C	G			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr2:166245798C>G	ENST00000375437.2	+	27	5772	c.5482C>G	c.(5482-5484)Cct>Gct	p.P1828A	SCN2A_ENST00000375427.2_Missense_Mutation_p.P1828A|SCN2A_ENST00000357398.3_Missense_Mutation_p.P1828A|SCN2A_ENST00000283256.6_Missense_Mutation_p.P1828A	NM_001040142.1	NP_001035232.1	Q99250	SCN2A_HUMAN	sodium channel, voltage-gated, type II, alpha subunit	1828					intrinsic apoptotic signaling pathway in response to osmotic stress (GO:0008627)|membrane depolarization during action potential (GO:0086010)|myelination (GO:0042552)|neuron apoptotic process (GO:0051402)|neuronal action potential (GO:0019228)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	axon (GO:0030424)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|intrinsic component of plasma membrane (GO:0031226)|node of Ranvier (GO:0033268)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|sodium channel complex (GO:0034706)|T-tubule (GO:0030315)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)	p.P1828A(2)		NS(1)|breast(7)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|liver(2)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	118					Lamotrigine(DB00555)|Propofol(DB00818)|Valproic Acid(DB00313)|Zonisamide(DB00909)	CCTGGATCCTCCTCTTCTCAT	0.458																																						uc002udc.2																			2	Substitution - Missense(2)		lung(2)	ovary(6)|breast(1)|pancreas(1)	8						c.(5482-5484)CCT>GCT		sodium channel, voltage-gated, type II, alpha	Lamotrigine(DB00555)						128.0	129.0	128.0					2																	166245798		2203	4300	6503	SO:0001583	missense	6326				myelination	node of Ranvier|voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr2:166245798C>G	AB208888	CCDS33313.1, CCDS33314.1	2q24.3	2012-02-26	2007-01-23	2007-01-23	ENSG00000136531	ENSG00000136531		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10588	protein-coding gene	gene with protein product		182390	"""sodium channel, voltage-gated, type II, alpha 2 polypeptide"", ""sodium channel, voltage-gated, type II, alpha 1 polypeptide"""	SCN2A1, SCN2A2		1317301, 16382098	Standard	XM_005246753		Approved	Nav1.2, HBSCII, HBSCI	uc002ude.3	Q99250	OTTHUMG00000044172	ENST00000375437.2:c.5482C>G	2.37:g.166245798C>G	ENSP00000364586:p.Pro1828Ala					SCN2A_uc002udd.2_Missense_Mutation_p.P1828A|SCN2A_uc002ude.2_Missense_Mutation_p.P1828A	p.P1828A	NM_001040142	NP_001035232	Q99250	SCN2A_HUMAN			27	5772	+			1828					A6NC14|A6NIQ5|Q14472|Q53T77|Q9BZC9|Q9BZD0	Missense_Mutation	SNP	ENST00000375437.2	37	c.5482C>G	CCDS33314.1	.	.	.	.	.	.	.	.	.	.	C	18.48	3.632368	0.67015	.	.	ENSG00000136531	ENST00000375437;ENST00000357398;ENST00000283256;ENST00000375427	D;D;D;D	0.99201	-5.55;-5.55;-5.55;-5.55	5.62	5.62	0.85841	.	0.000000	0.64402	D	0.000001	D	0.99560	0.9842	H	0.95402	3.665	0.80722	D	1	D;D	0.89917	1.0;0.995	D;D	0.97110	1.0;0.995	D	0.98200	1.0467	10	0.87932	D	0	.	20.0922	0.97824	0.0:1.0:0.0:0.0	.	1828;1828	Q99250-2;Q99250	.;SCN2A_HUMAN	A	1828	ENSP00000364586:P1828A;ENSP00000349973:P1828A;ENSP00000283256:P1828A;ENSP00000364576:P1828A	ENSP00000283256:P1828A	P	+	1	0	SCN2A	165954044	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.794000	0.85869	2.828000	0.97474	0.644000	0.83932	CCT		PASS	0.458	SCN2A-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000102659.2	NM_021007		30	134	30	134	---	---	---	---
SCN1A	6323	broad.mit.edu	37	2	166848855	166848855	+	Missense_Mutation	SNP	C	C	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr2:166848855C>T	ENST00000303395.4	-	26	4929	c.4930G>A	c.(4930-4932)Ggc>Agc	p.G1644S	AC010127.3_ENST00000595647.1_RNA|SCN1A_ENST00000375405.3_Missense_Mutation_p.G1633S|AC010127.3_ENST00000597623.1_RNA|SCN1A_ENST00000423058.2_Missense_Mutation_p.G1644S|SCN1A_ENST00000409050.1_Missense_Mutation_p.G1616S			P35498	SCN1A_HUMAN	sodium channel, voltage-gated, type I, alpha subunit	1644					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.G1633S(1)|p.G1644C(1)|p.G1644S(1)|p.G1633C(1)		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)	AGGATTCGGCCAATCCTAGCA	0.473																																						uc010zcz.1																			4	Substitution - Missense(4)		lung(4)	ovary(6)|skin(6)|large_intestine(1)	13						c.(4897-4899)GGC>AGC		sodium channel, voltage-gated, type I, alpha	Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909)						123.0	119.0	120.0					2																	166848855		2203	4300	6503	SO:0001583	missense	6323					voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr2:166848855C>T	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.4930G>A	2.37:g.166848855C>T	ENSP00000303540:p.Gly1644Ser						p.G1633S	NM_006920	NP_008851	P35498	SCN1A_HUMAN			26	4915	-			1644			Helical; Voltage-sensor; Name=S4 of repeat IV; (By similarity).|IV.		E9PG49|Q16172|Q585T7|Q8IUJ6|Q96LA3|Q9C008	Missense_Mutation	SNP	ENST00000303395.4	37	c.4897G>A	CCDS54413.1	.	.	.	.	.	.	.	.	.	.	C	34	5.302417	0.95601	.	.	ENSG00000144285	ENST00000423058;ENST00000303395;ENST00000375405;ENST00000409050	D;D;D;D	0.98362	-4.89;-4.89;-4.89;-4.89	5.27	5.27	0.74061	.	0.000000	0.64402	D	0.000001	D	0.98902	0.9628	M	0.79123	2.44	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99873	1.1099	10	0.72032	D	0.01	.	18.8986	0.92433	0.0:1.0:0.0:0.0	.	1633	P35498-2	.	S	1644;1644;1633;1616	ENSP00000407030:G1644S;ENSP00000303540:G1644S;ENSP00000364554:G1633S;ENSP00000386312:G1616S	ENSP00000303540:G1644S	G	-	1	0	SCN1A	166557101	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.642000	0.83385	2.444000	0.82710	0.650000	0.86243	GGC		PASS	0.473	SCN1A-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000102661.1	NM_006920		32	146	32	146	---	---	---	---
SCN7A	6332	broad.mit.edu	37	2	167301326	167301326	+	Missense_Mutation	SNP	C	C	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr2:167301326C>A	ENST00000409855.1	-	12	1698	c.1572G>T	c.(1570-1572)ttG>ttT	p.L524F		NM_002976.3	NP_002967.2	Q01118	SCN7A_HUMAN	sodium channel, voltage-gated, type VII, alpha subunit	524					membrane depolarization during action potential (GO:0086010)|muscle contraction (GO:0006936)|neuronal action potential (GO:0019228)|sodium ion homeostasis (GO:0055078)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	glial cell projection (GO:0097386)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)	p.L524F(2)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(30)|prostate(4)|soft_tissue(1)|urinary_tract(1)	44					Valproic Acid(DB00313)	GATAATGCTCCAAGGTCAGAA	0.318																																						uc002udu.1																			2	Substitution - Missense(2)		lung(2)	large_intestine(1)	1						c.(1570-1572)TTG>TTT		sodium channel, voltage-gated, type VII, alpha							43.0	42.0	43.0					2																	167301326		1827	4077	5904	SO:0001583	missense	6332				muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr2:167301326C>A	M91556	CCDS46442.1	2q21-q23	2012-03-05	2012-02-28	2002-06-14	ENSG00000136546	ENSG00000136546		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10594	protein-coding gene	gene with protein product		182392	"""sodium channel, voltage-gated, type VI, alpha"", ""sodium channel, voltage-gated, type VII, alpha"""	SCN6A		10198179	Standard	NM_002976		Approved	Nav2.1, Nav2.2, NaG	uc002udu.2	Q01118	OTTHUMG00000154078	ENST00000409855.1:c.1572G>T	2.37:g.167301326C>A	ENSP00000386796:p.Leu524Phe					SCN7A_uc010fpm.1_RNA	p.L524F	NM_002976	NP_002967	Q01118	SCN7A_HUMAN			12	1699	-			524			Helical; Name=S1 of repeat II; (By similarity).			Missense_Mutation	SNP	ENST00000409855.1	37	c.1572G>T	CCDS46442.1	.	.	.	.	.	.	.	.	.	.	C	16.41	3.116731	0.56505	.	.	ENSG00000136546	ENST00000409855;ENST00000259060;ENST00000419992	D;D	0.98060	-4.69;-4.69	5.43	3.62	0.41486	.	0.997243	0.08115	N	0.995548	D	0.97383	0.9144	M	0.84948	2.725	0.39590	D	0.969579	P	0.45902	0.868	B	0.42386	0.386	D	0.94397	0.7619	10	0.87932	D	0	.	9.5931	0.39559	0.0:0.8269:0.0:0.1731	.	524	Q01118	SCN7A_HUMAN	F	524	ENSP00000386796:L524F;ENSP00000413699:L524F	ENSP00000259060:L524F	L	-	3	2	SCN7A	167009572	1.000000	0.71417	0.948000	0.38648	0.845000	0.48019	1.195000	0.32186	0.828000	0.34709	0.650000	0.86243	TTG		PASS	0.318	SCN7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333745.1			12	15	12	15	---	---	---	---
XIRP2	129446	broad.mit.edu	37	2	168100283	168100283	+	Missense_Mutation	SNP	G	G	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr2:168100283G>T	ENST00000409195.1	+	9	2470	c.2381G>T	c.(2380-2382)gGa>gTa	p.G794V	XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.G572V|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000295237.9_Missense_Mutation_p.G794V	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	619					actin cytoskeleton organization (GO:0030036)|cardiac muscle tissue morphogenesis (GO:0055008)|cell-cell junction organization (GO:0045216)|ventricular septum development (GO:0003281)	cell junction (GO:0030054)|Z disc (GO:0030018)		p.G794V(1)		NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						GTTGTCCGAGGAATATCCATG	0.408																																						uc002udx.2																			1	Substitution - Missense(1)		lung(1)	skin(7)|ovary(6)|pancreas(1)	14						c.(2380-2382)GGA>GTA		xin actin-binding repeat containing 2 isoform 1							73.0	71.0	72.0					2																	168100283		1852	4091	5943	SO:0001583	missense	129446				actin cytoskeleton organization	cell junction	actin binding	g.chr2:168100283G>T	AK056582	CCDS42768.1, CCDS42769.1, CCDS56143.1, CCDS56144.1, CCDS56145.1	2q31.1	2013-10-25	2007-06-27	2007-06-27	ENSG00000163092	ENSG00000163092			14303	protein-coding gene	gene with protein product	"""myomaxin"""	609778	"""cardiomyopathy associated 3"""	CMYA3		17046827, 12203715, 15454575	Standard	NM_001079810		Approved		uc002udx.3	A4UGR9	OTTHUMG00000154027	ENST00000409195.1:c.2381G>T	2.37:g.168100283G>T	ENSP00000386840:p.Gly794Val					XIRP2_uc010fpn.2_Intron|XIRP2_uc010fpo.2_Intron|XIRP2_uc010fpp.2_Intron|XIRP2_uc002udy.2_Missense_Mutation_p.G619V|XIRP2_uc010fpq.2_Missense_Mutation_p.G572V|XIRP2_uc010fpr.2_Intron	p.G794V	NM_152381	NP_689594	A4UGR9	XIRP2_HUMAN			8	2399	+			619					A0PJ94|B2BBS0|B2BBS1|B2BBS4|B3KVH0|J3KNB1|Q53R52|Q5MJ67|Q702N7|Q86T36|Q86T38|Q86T46|Q86T51|Q86T53|Q86T55|Q86T79|Q86TB6|Q8N1M9|Q8N3R5|Q8TBV6	Missense_Mutation	SNP	ENST00000409195.1	37	c.2381G>T	CCDS42769.1	.	.	.	.	.	.	.	.	.	.	G	14.78	2.636280	0.47049	.	.	ENSG00000163092	ENST00000409195;ENST00000295237;ENST00000409273	T;T;T	0.10192	2.92;2.92;2.9	5.92	5.92	0.95590	.	0.052534	0.85682	D	0.000000	T	0.34571	0.0902	M	0.83384	2.64	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.995;0.995	T	0.06338	-1.0832	10	0.87932	D	0	-25.0941	10.9496	0.47321	0.0683:0.0:0.8003:0.1315	.	619;619;572	A4UGR9;A4UGR9-3;A4UGR9-2	XIRP2_HUMAN;.;.	V	794;794;572	ENSP00000386840:G794V;ENSP00000295237:G794V;ENSP00000387255:G572V	ENSP00000295237:G794V	G	+	2	0	XIRP2	167808529	0.997000	0.39634	1.000000	0.80357	0.992000	0.81027	1.826000	0.39092	2.810000	0.96702	0.650000	0.86243	GGA		PASS	0.408	XIRP2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000333547.1	NM_152381		25	92	25	92	---	---	---	---
XIRP2	129446	broad.mit.edu	37	2	168104217	168104217	+	Silent	SNP	G	G	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr2:168104217G>T	ENST00000409195.1	+	9	6404	c.6315G>T	c.(6313-6315)ctG>ctT	p.L2105L	XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409273.1_Silent_p.L1883L|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000295237.9_Silent_p.L2105L	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	1930					actin cytoskeleton organization (GO:0030036)|cardiac muscle tissue morphogenesis (GO:0055008)|cell-cell junction organization (GO:0045216)|ventricular septum development (GO:0003281)	cell junction (GO:0030054)|Z disc (GO:0030018)		p.L2105L(2)		NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						TGAGAGAGCTGAAGAAGGATG	0.383																																						uc002udx.2																			2	Substitution - coding silent(2)		upper_aerodigestive_tract(1)|lung(1)	skin(7)|ovary(6)|pancreas(1)	14						c.(6313-6315)CTG>CTT		xin actin-binding repeat containing 2 isoform 1							59.0	55.0	56.0					2																	168104217		1929	4150	6079	SO:0001819	synonymous_variant	129446				actin cytoskeleton organization	cell junction	actin binding	g.chr2:168104217G>T	AK056582	CCDS42768.1, CCDS42769.1, CCDS56143.1, CCDS56144.1, CCDS56145.1	2q31.1	2013-10-25	2007-06-27	2007-06-27	ENSG00000163092	ENSG00000163092			14303	protein-coding gene	gene with protein product	"""myomaxin"""	609778	"""cardiomyopathy associated 3"""	CMYA3		17046827, 12203715, 15454575	Standard	NM_001079810		Approved		uc002udx.3	A4UGR9	OTTHUMG00000154027	ENST00000409195.1:c.6315G>T	2.37:g.168104217G>T						XIRP2_uc010fpn.2_Intron|XIRP2_uc010fpo.2_Intron|XIRP2_uc010fpp.2_Intron|XIRP2_uc002udy.2_Silent_p.L1930L|XIRP2_uc010fpq.2_Silent_p.L1883L|XIRP2_uc010fpr.2_Intron|XIRP2_uc010fps.1_5'Flank	p.L2105L	NM_152381	NP_689594	A4UGR9	XIRP2_HUMAN			8	6333	+			1930					A0PJ94|B2BBS0|B2BBS1|B2BBS4|B3KVH0|J3KNB1|Q53R52|Q5MJ67|Q702N7|Q86T36|Q86T38|Q86T46|Q86T51|Q86T53|Q86T55|Q86T79|Q86TB6|Q8N1M9|Q8N3R5|Q8TBV6	Silent	SNP	ENST00000409195.1	37	c.6315G>T	CCDS42769.1																																																																																				PASS	0.383	XIRP2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000333547.1	NM_152381		28	45	28	45	---	---	---	---
XIRP2	129446	broad.mit.edu	37	2	168105195	168105195	+	Missense_Mutation	SNP	G	G	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr2:168105195G>T	ENST00000409195.1	+	9	7382	c.7293G>T	c.(7291-7293)aaG>aaT	p.K2431N	XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.K2209N|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000295237.9_Missense_Mutation_p.K2431N	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	2256					actin cytoskeleton organization (GO:0030036)|cardiac muscle tissue morphogenesis (GO:0055008)|cell-cell junction organization (GO:0045216)|ventricular septum development (GO:0003281)	cell junction (GO:0030054)|Z disc (GO:0030018)		p.K2431N(1)		NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						AACTTCCCAAGCATATAAAAG	0.403																																						uc002udx.2																			1	Substitution - Missense(1)		lung(1)	skin(7)|ovary(6)|pancreas(1)	14						c.(7291-7293)AAG>AAT		xin actin-binding repeat containing 2 isoform 1							82.0	84.0	84.0					2																	168105195		1824	4081	5905	SO:0001583	missense	129446				actin cytoskeleton organization	cell junction	actin binding	g.chr2:168105195G>T	AK056582	CCDS42768.1, CCDS42769.1, CCDS56143.1, CCDS56144.1, CCDS56145.1	2q31.1	2013-10-25	2007-06-27	2007-06-27	ENSG00000163092	ENSG00000163092			14303	protein-coding gene	gene with protein product	"""myomaxin"""	609778	"""cardiomyopathy associated 3"""	CMYA3		17046827, 12203715, 15454575	Standard	NM_001079810		Approved		uc002udx.3	A4UGR9	OTTHUMG00000154027	ENST00000409195.1:c.7293G>T	2.37:g.168105195G>T	ENSP00000386840:p.Lys2431Asn					XIRP2_uc010fpn.2_Intron|XIRP2_uc010fpo.2_Intron|XIRP2_uc010fpp.2_Intron|XIRP2_uc002udy.2_Missense_Mutation_p.K2256N|XIRP2_uc010fpq.2_Missense_Mutation_p.K2209N|XIRP2_uc010fpr.2_Intron|XIRP2_uc010fps.1_Intron	p.K2431N	NM_152381	NP_689594	A4UGR9	XIRP2_HUMAN			8	7311	+			2256					A0PJ94|B2BBS0|B2BBS1|B2BBS4|B3KVH0|J3KNB1|Q53R52|Q5MJ67|Q702N7|Q86T36|Q86T38|Q86T46|Q86T51|Q86T53|Q86T55|Q86T79|Q86TB6|Q8N1M9|Q8N3R5|Q8TBV6	Missense_Mutation	SNP	ENST00000409195.1	37	c.7293G>T	CCDS42769.1	.	.	.	.	.	.	.	.	.	.	G	13.14	2.147695	0.37923	.	.	ENSG00000163092	ENST00000409195;ENST00000295237;ENST00000409273	T;T;T	0.03065	4.06;4.06;4.06	5.67	2.79	0.32731	.	0.540943	0.19296	N	0.117769	T	0.08179	0.0204	L	0.60455	1.87	0.09310	N	1	D;D;B	0.56746	0.961;0.977;0.383	P;P;B	0.55923	0.617;0.787;0.116	T	0.17806	-1.0357	10	0.45353	T	0.12	-7.2465	4.5165	0.11937	0.3251:0.0:0.5298:0.145	.	2256;2256;2209	A4UGR9;A4UGR9-3;A4UGR9-2	XIRP2_HUMAN;.;.	N	2431;2431;2209	ENSP00000386840:K2431N;ENSP00000295237:K2431N;ENSP00000387255:K2209N	ENSP00000295237:K2431N	K	+	3	2	XIRP2	167813441	0.025000	0.19082	0.013000	0.15412	0.827000	0.46813	0.518000	0.22847	0.697000	0.31718	0.655000	0.94253	AAG		PASS	0.403	XIRP2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000333547.1	NM_152381		48	74	48	74	---	---	---	---
B3GALT1	8708	broad.mit.edu	37	2	168726221	168726221	+	Silent	SNP	G	G	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr2:168726221G>A	ENST00000392690.3	+	1	764	c.672G>A	c.(670-672)agG>agA	p.R224R	B3GALT1_ENST00000305861.1_Silent_p.R224R|AC016723.4_ENST00000430546.1_RNA|AC016723.4_ENST00000436982.2_RNA			Q9Y5Z6	B3GT1_HUMAN	UDP-Gal:betaGlcNAc beta 1,3-galactosyltransferase, polypeptide 1	224					oligosaccharide biosynthetic process (GO:0009312)|protein glycosylation (GO:0006486)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity (GO:0008499)	p.R224R(1)		cervix(1)|endometrium(1)|large_intestine(1)|lung(9)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	18						ATATGCCCAGGGATTTGTACC	0.478																																						uc002udz.1																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|pancreas(1)|skin(1)	4						c.(670-672)AGG>AGA		UDP-Gal:betaGlcNAc beta							113.0	111.0	111.0					2																	168726221		2203	4300	6503	SO:0001819	synonymous_variant	8708				lipid glycosylation|protein glycosylation	Golgi membrane|integral to membrane	UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity	g.chr2:168726221G>A	E07739	CCDS2227.1	2q24.3	2013-02-19			ENSG00000172318	ENSG00000172318		"""Beta 3-glycosyltransferases"""	916	protein-coding gene	gene with protein product		603093				9582303	Standard	NM_020981		Approved	beta3Gal-T1	uc002udz.1	Q9Y5Z6	OTTHUMG00000132163	ENST00000392690.3:c.672G>A	2.37:g.168726221G>A							p.R224R	NM_020981	NP_066191	Q9Y5Z6	B3GT1_HUMAN			2	1023	+			224			Lumenal (Potential).		D3DPB8|Q53SS2	Silent	SNP	ENST00000392690.3	37	c.672G>A	CCDS2227.1																																																																																				PASS	0.478	B3GALT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255211.2	NM_020981		15	75	15	75	---	---	---	---
LRP2	4036	broad.mit.edu	37	2	170103263	170103263	+	Missense_Mutation	SNP	C	C	G			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr2:170103263C>G	ENST00000263816.3	-	21	3427	c.3142G>C	c.(3142-3144)Gtc>Ctc	p.V1048L	LRP2_ENST00000443831.1_Missense_Mutation_p.V911L	NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	1048	LDL-receptor class A 8. {ECO:0000255|PROSITE-ProRule:PRU00124}.				cell proliferation (GO:0008283)|endocytosis (GO:0006897)|forebrain development (GO:0030900)|lipid metabolic process (GO:0006629)|phototransduction, visible light (GO:0007603)|protein glycosylation (GO:0006486)|receptor-mediated endocytosis (GO:0006898)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|vitamin D metabolic process (GO:0042359)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)	p.V1048L(1)		biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	"""""""Insulin(DB00071)|Gentamicin(DB00798)|Insulin Regular(DB00030)|Urokinase(DB00013)"""	CAATCATCGACTCCATCACAG	0.463																																						uc002ues.2																			1	Substitution - Missense(1)		lung(1)	ovary(13)|skin(6)|central_nervous_system(4)|large_intestine(3)|kidney(2)|pancreas(1)	29						c.(3142-3144)GTC>CTC		low density lipoprotein-related protein 2	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)						219.0	206.0	210.0					2																	170103263		2203	4300	6503	SO:0001583	missense	4036				hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding	g.chr2:170103263C>G		CCDS2232.1	2q31.1	2013-05-28	2010-01-26		ENSG00000081479	ENSG00000081479		"""Low density lipoprotein receptors"""	6694	protein-coding gene	gene with protein product	"""megalin"""	600073				7959795	Standard	NM_004525		Approved	gp330, DBS	uc002ues.3	P98164	OTTHUMG00000132179	ENST00000263816.3:c.3142G>C	2.37:g.170103263C>G	ENSP00000263816:p.Val1048Leu					LRP2_uc010zdf.1_Missense_Mutation_p.V911L	p.V1048L	NM_004525	NP_004516	P98164	LRP2_HUMAN		STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	21	3355	-			1048			LDL-receptor class A 8.|Extracellular (Potential).		O00711|Q16215	Missense_Mutation	SNP	ENST00000263816.3	37	c.3142G>C	CCDS2232.1	.	.	.	.	.	.	.	.	.	.	C	4.990	0.183901	0.09495	.	.	ENSG00000081479	ENST00000263816;ENST00000443831	D;D	0.95412	-3.7;-3.7	5.9	-11.0	0.00169	Low-density lipoprotein (LDL) receptor class A, conserved site (1);	0.640841	0.15580	N	0.254996	D	0.89444	0.6717	L	0.50333	1.59	0.09310	N	1	B;B	0.15719	0.013;0.014	B;B	0.29524	0.103;0.058	T	0.72174	-0.4370	10	0.25751	T	0.34	.	6.2411	0.20791	0.4097:0.2203:0.0:0.3701	.	911;1048	E9PC35;P98164	.;LRP2_HUMAN	L	1048;911	ENSP00000263816:V1048L;ENSP00000409813:V911L	ENSP00000263816:V1048L	V	-	1	0	LRP2	169811509	0.000000	0.05858	0.000000	0.03702	0.015000	0.08874	-0.640000	0.05440	-3.044000	0.00262	-1.283000	0.01379	GTC		PASS	0.463	LRP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255231.2	NM_004525		69	282	69	282	---	---	---	---
WIPF1	7456	broad.mit.edu	37	2	175437023	175437023	+	Silent	SNP	C	C	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr2:175437023C>A	ENST00000392547.2	-	5	609	c.510G>T	c.(508-510)ccG>ccT	p.P170P	WIPF1_ENST00000467149.1_5'Flank|AC018890.6_ENST00000442996.1_RNA|WIPF1_ENST00000392546.2_Silent_p.P170P|WIPF1_ENST00000359761.3_Silent_p.P170P|WIPF1_ENST00000272746.5_Silent_p.P170P|WIPF1_ENST00000409415.3_Silent_p.P170P|AC010894.5_ENST00000454203.1_RNA|WIPF1_ENST00000409891.1_Silent_p.P170P|AC018890.6_ENST00000412835.1_RNA	NM_003387.4	NP_003378.3	O43516	WIPF1_HUMAN	WAS/WASL interacting protein family, member 1	170					actin filament-based movement (GO:0030048)|actin polymerization or depolymerization (GO:0008154)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|protein complex assembly (GO:0006461)|response to other organism (GO:0051707)	actin cytoskeleton (GO:0015629)|actin filament (GO:0005884)|cell projection (GO:0042995)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)	actin binding (GO:0003779)|profilin binding (GO:0005522)	p.P170P(1)		NS(1)|breast(1)|endometrium(5)|large_intestine(7)|lung(15)|ovary(2)|skin(1)	32						GCCTTGGGGGCGGCATTCGGT	0.602																																						uc002uiy.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|skin(1)	2						c.(508-510)CCG>CCT		WAS/WASL interacting protein family, member 1							49.0	55.0	53.0					2																	175437023		2203	4300	6503	SO:0001819	synonymous_variant	7456				actin polymerization or depolymerization|protein complex assembly	cytoplasmic membrane-bounded vesicle	actin binding|profilin binding	g.chr2:175437023C>A	AF031588	CCDS2260.1	2q31.2	2014-09-17	2006-10-12	2006-10-12	ENSG00000115935	ENSG00000115935			12736	protein-coding gene	gene with protein product		602357	"""Wiskott-Aldrich syndrome protein interacting protein"""	WASPIP		9405671	Standard	NM_001077269		Approved	WIP	uc002uiz.3	O43516	OTTHUMG00000132334	ENST00000392547.2:c.510G>T	2.37:g.175437023C>A						uc002uiw.2_Intron|uc002uix.1_Intron|WIPF1_uc002uja.2_Silent_p.P170P|WIPF1_uc010fqt.1_Silent_p.P170P|WIPF1_uc002ujc.1_Silent_p.P170P|WIPF1_uc002uiz.2_Silent_p.P170P|WIPF1_uc002ujb.1_Silent_p.P170P|WIPF1_uc010zep.1_Silent_p.P170P	p.P170P	NM_003387	NP_003378	O43516	WIPF1_HUMAN			6	842	-			170					B8ZZM1|D3DPE4|Q15220|Q53TA9|Q6MZU9|Q9BU37|Q9UNP1	Silent	SNP	ENST00000392547.2	37	c.510G>T	CCDS2260.1																																																																																				PASS	0.602	WIPF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255453.1	NM_003387		36	99	36	99	---	---	---	---
HOXD12	3238	broad.mit.edu	37	2	176965022	176965022	+	Missense_Mutation	SNP	G	G	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr2:176965022G>T	ENST00000406506.2	+	1	565	c.493G>T	c.(493-495)Gac>Tac	p.D165Y	HOXD12_ENST00000404162.2_Missense_Mutation_p.D165Y			P35452	HXD12_HUMAN	homeobox D12	165					embryonic digit morphogenesis (GO:0042733)|pattern specification process (GO:0007389)|regulation of transcription, DNA-templated (GO:0006355)|skeletal system development (GO:0001501)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	sequence-specific DNA binding (GO:0043565)	p.D165Y(1)		central_nervous_system(1)|large_intestine(1)|lung(7)|ovary(1)	10			OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.18)	Colorectal(32;0.0521)|READ - Rectum adenocarcinoma(9;0.0678)		CTTCAAGGACGACACCAAGGG	0.652																																						uc010zev.1																			1	Substitution - Missense(1)		lung(1)		0						c.(493-495)GAC>TAC		homeobox D12							21.0	24.0	23.0					2																	176965022		1927	4109	6036	SO:0001583	missense	3238					nuclear chromosome	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr2:176965022G>T		CCDS46456.1	2q31.1	2011-06-20	2005-12-22		ENSG00000170178	ENSG00000170178		"""Homeoboxes / ANTP class : HOXL subclass"""	5135	protein-coding gene	gene with protein product		142988	"""homeo box D12"""	HOX4H		1675198, 1973146	Standard	NM_021193		Approved		uc010zev.1	P35452	OTTHUMG00000150358	ENST00000406506.2:c.493G>T	2.37:g.176965022G>T	ENSP00000385586:p.Asp165Tyr					HOXD12_uc010zew.1_Missense_Mutation_p.D165Y	p.D165Y	NM_021193	NP_067016	P35452	HXD12_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.18)	Colorectal(32;0.0521)|READ - Rectum adenocarcinoma(9;0.0678)	1	493	+			165					B5MCP0|Q0VAD7|Q0VAD8|Q9NS03	Missense_Mutation	SNP	ENST00000406506.2	37	c.493G>T	CCDS46456.1	.	.	.	.	.	.	.	.	.	.	G	18.33	3.599998	0.66332	.	.	ENSG00000170178	ENST00000406506;ENST00000404162	D	0.92858	-3.12	5.46	4.52	0.55395	.	0.325640	0.33309	N	0.005043	D	0.94598	0.8259	M	0.62723	1.935	0.42502	D	0.992939	D;D	0.89917	1.0;0.989	D;P	0.72982	0.979;0.897	D	0.94523	0.7729	10	0.59425	D	0.04	.	13.164	0.59560	0.0:0.1598:0.8402:0.0	.	165;165	B5MCD3;P35452	.;HXD12_HUMAN	Y	165	ENSP00000385586:D165Y	ENSP00000385132:D165Y	D	+	1	0	HOXD12	176673268	1.000000	0.71417	0.998000	0.56505	0.989000	0.77384	5.407000	0.66363	2.559000	0.86315	0.655000	0.94253	GAC		PASS	0.652	HOXD12-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359253.2	NM_021193		14	36	14	36	---	---	---	---
Unknown	0	broad.mit.edu	37	2	177465737	177465737	+	IGR	SNP	G	G	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr2:177465737G>T								AC017048.2 (69326 upstream) : RP11-324L17.1 (10427 downstream)																							atttcctttgggtcaggtgtc	0.403																																						hsa-mir-1246|MI0006381																			0					0															218.0	207.0	210.0					2																	177465737		1568	3582	5150	SO:0001628	intergenic_variant	100302142							g.chr2:177465737G>T																													2.37:g.177465737G>T																-									RNA	SNP		37	c.44G>T																																																																																				0	PASS	0.403									56	252	56	252	---	---	---	---
TTN	7273	broad.mit.edu	37	2	179431400	179431400	+	Missense_Mutation	SNP	T	T	C			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr2:179431400T>C	ENST00000591111.1	-	276	74760	c.74536A>G	c.(74536-74538)Aaa>Gaa	p.K24846E	TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.K26487E|TTN_ENST00000342175.6_Missense_Mutation_p.K17614E|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.K17547E|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.K23919E|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.K17422E			Q8WZ42	TITIN_HUMAN	titin	24846					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.K17547E(1)|p.K17422E(1)|p.K23917E(1)|p.K17614E(1)|p.K23919E(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GGGCCAGGTTTGAACACAGGA	0.453																																						uc010zfg.1																			5	Substitution - Missense(5)		lung(5)	ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153						c.(71755-71757)AAA>GAA		titin isoform N2-A							203.0	202.0	202.0					2																	179431400		1855	4099	5954	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179431400T>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.74536A>G	2.37:g.179431400T>C	ENSP00000465570:p.Lys24846Glu					uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.K17614E|TTN_uc010zfi.1_Missense_Mutation_p.K17547E|TTN_uc010zfj.1_Missense_Mutation_p.K17422E	p.K23919E	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		275	71979	-			24846					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.71755A>G		.	.	.	.	.	.	.	.	.	.	T	11.83	1.755725	0.31046	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.39997	1.05;1.05;1.05;1.05	5.54	5.54	0.83059	Fibronectin, type III (1);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.34658	0.0905	N	0.26162	0.8	0.52501	D	0.99995	B;P;P;P	0.38129	0.429;0.619;0.619;0.603	B;B;B;B	0.37833	0.081;0.259;0.259;0.141	T	0.29366	-1.0014	9	0.87932	D	0	.	15.6633	0.77206	0.0:0.0:0.0:1.0	.	17422;17547;17614;24846	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	E	23919;17422;17614;17547;17420	ENSP00000343764:K23919E;ENSP00000434586:K17422E;ENSP00000340554:K17614E;ENSP00000352154:K17547E	ENSP00000340554:K17614E	K	-	1	0	TTN	179139646	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	4.893000	0.63199	2.096000	0.63516	0.459000	0.35465	AAA		PASS	0.453	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		140	198	140	198	---	---	---	---
TTN	7273	broad.mit.edu	37	2	179434750	179434750	+	Missense_Mutation	SNP	A	A	G			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr2:179434750A>G	ENST00000591111.1	-	276	71410	c.71186T>C	c.(71185-71187)aTa>aCa	p.I23729T	TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.I25370T|TTN_ENST00000342175.6_Missense_Mutation_p.I16497T|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.I16430T|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.I22802T|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.I16305T			Q8WZ42	TITIN_HUMAN	titin	23729	Fibronectin type-III 72. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)	p.I16305T(1)|p.I16430T(1)|p.I22802T(1)|p.I22800T(1)|p.I16497T(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GTGATTTTCTATGAGTCCAGT	0.438																																						uc010zfg.1																			5	Substitution - Missense(5)		lung(5)	ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153						c.(68404-68406)ATA>ACA		titin isoform N2-A							99.0	94.0	95.0					2																	179434750		1934	4130	6064	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179434750A>G	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.71186T>C	2.37:g.179434750A>G	ENSP00000465570:p.Ile23729Thr					uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.I16497T|TTN_uc010zfi.1_Missense_Mutation_p.I16430T|TTN_uc010zfj.1_Missense_Mutation_p.I16305T	p.I22802T	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		275	68629	-			23729					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.68405T>C		.	.	.	.	.	.	.	.	.	.	A	10.80	1.453261	0.26161	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.55052	0.54;0.54;0.54;0.54	6.03	6.03	0.97812	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.37919	0.1021	N	0.04018	-0.295	0.24681	N	0.99336	B;B;B;B	0.25048	0.117;0.117;0.117;0.117	B;B;B;B	0.30179	0.061;0.061;0.112;0.112	T	0.46247	-0.9205	9	0.87932	D	0	.	16.5655	0.84588	1.0:0.0:0.0:0.0	.	16305;16430;16497;23729	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	T	22802;16305;16497;16430;16303	ENSP00000343764:I22802T;ENSP00000434586:I16305T;ENSP00000340554:I16497T;ENSP00000352154:I16430T	ENSP00000340554:I16497T	I	-	2	0	TTN	179142996	0.923000	0.31300	0.806000	0.32338	0.979000	0.70002	6.148000	0.71788	2.302000	0.77476	0.533000	0.62120	ATA		PASS	0.438	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		23	68	23	68	---	---	---	---
TTN	7273	broad.mit.edu	37	2	179437167	179437167	+	Silent	SNP	T	T	C			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr2:179437167T>C	ENST00000591111.1	-	276	68993	c.68769A>G	c.(68767-68769)aaA>aaG	p.K22923K	TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000589042.1_Silent_p.K24564K|TTN_ENST00000342175.6_Silent_p.K15691K|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN_ENST00000359218.5_Silent_p.K15624K|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342992.6_Silent_p.K21996K|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000460472.2_Silent_p.K15499K			Q8WZ42	TITIN_HUMAN	titin	22923	Fibronectin type-III 66. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)	p.K15624K(1)|p.K21994K(1)|p.K15499K(1)|p.K21996K(1)|p.K15691K(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTGAATATGCTTTTCTTGTTG	0.428																																						uc010zfg.1																			5	Substitution - coding silent(5)		lung(5)	ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153						c.(65986-65988)AAA>AAG		titin isoform N2-A							95.0	89.0	91.0					2																	179437167		1895	4111	6006	SO:0001819	synonymous_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179437167T>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.68769A>G	2.37:g.179437167T>C						uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Silent_p.K15691K|TTN_uc010zfi.1_Silent_p.K15624K|TTN_uc010zfj.1_Silent_p.K15499K	p.K21996K	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		275	66212	-			22923					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	Silent	SNP	ENST00000591111.1	37	c.65988A>G																																																																																					PASS	0.428	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		21	56	21	56	---	---	---	---
TTN	7273	broad.mit.edu	37	2	179439252	179439252	+	Missense_Mutation	SNP	A	A	T	rs373985878		TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr2:179439252A>T	ENST00000591111.1	-	276	66908	c.66684T>A	c.(66682-66684)aaT>aaA	p.N22228K	TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.N23869K|TTN_ENST00000342175.6_Missense_Mutation_p.N14996K|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.N14929K|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.N21301K|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.N14804K|RP11-171I2.5_ENST00000604215.1_RNA			Q8WZ42	TITIN_HUMAN	titin	22228	Fibronectin type-III 61. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)	p.N21299K(1)|p.N21301K(1)|p.N14929K(1)|p.N14804K(1)|p.N14996K(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AGAGAATACCATTTCGTTCTT	0.418																																						uc010zfg.1																			5	Substitution - Missense(5)		lung(5)	ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153						c.(63901-63903)AAT>AAA		titin isoform N2-A							174.0	172.0	173.0					2																	179439252		1904	4120	6024	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179439252A>T	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.66684T>A	2.37:g.179439252A>T	ENSP00000465570:p.Asn22228Lys					uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.N14996K|TTN_uc010zfi.1_Missense_Mutation_p.N14929K|TTN_uc010zfj.1_Missense_Mutation_p.N14804K	p.N21301K	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		275	64127	-			22228					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.63903T>A		.	.	.	.	.	.	.	.	.	.	A	9.338	1.062230	0.19987	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.59083	0.29;0.29;0.29;0.29	5.7	1.94	0.25998	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.58424	0.2121	L	0.46885	1.475	0.46609	D	0.999123	D;D;D;P	0.58620	0.983;0.971;0.983;0.942	P;P;P;P	0.53360	0.724;0.724;0.724;0.724	T	0.57283	-0.7838	9	0.87932	D	0	.	9.4144	0.38512	0.6264:0.0:0.3736:0.0	.	14804;14929;14996;22228	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	K	21301;14804;14996;14929;14802	ENSP00000343764:N21301K;ENSP00000434586:N14804K;ENSP00000340554:N14996K;ENSP00000352154:N14929K	ENSP00000340554:N14996K	N	-	3	2	TTN	179147498	1.000000	0.71417	0.999000	0.59377	0.781000	0.44180	1.480000	0.35464	0.094000	0.17404	0.528000	0.53228	AAT		PASS	0.418	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		56	251	56	251	---	---	---	---
TTN	7273	broad.mit.edu	37	2	179486603	179486603	+	Missense_Mutation	SNP	T	T	C			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr2:179486603T>C	ENST00000591111.1	-	194	40347	c.40123A>G	c.(40123-40125)Agg>Ggg	p.R13375G	TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.R15016G|TTN_ENST00000342175.6_Missense_Mutation_p.R6143G|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000604956.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.R6076G|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.R12448G|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.R5951G			Q8WZ42	TITIN_HUMAN	titin	13375	Ig-like 89.				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.R12448G(2)|p.R6076G(1)|p.R6143G(1)|p.R5951G(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CTCGCTGTCCTTACTTCACAG	0.383																																						uc010zfg.1																			5	Substitution - Missense(5)		lung(5)	ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153						c.(37342-37344)AGG>GGG		titin isoform N2-A							138.0	130.0	132.0					2																	179486603		1944	4140	6084	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179486603T>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.40123A>G	2.37:g.179486603T>C	ENSP00000465570:p.Arg13375Gly					TTN_uc010zfh.1_Missense_Mutation_p.R6143G|TTN_uc010zfi.1_Missense_Mutation_p.R6076G|TTN_uc010zfj.1_Missense_Mutation_p.R5951G	p.R12448G	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		193	37566	-			13375					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.37342A>G		.	.	.	.	.	.	.	.	.	.	T	12.63	1.994138	0.35226	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.25414	1.8;1.8;1.8;1.8	5.81	3.34	0.38264	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.17619	0.0423	N	0.12663	0.25	0.35470	D	0.797269	B;B;B;B	0.25048	0.117;0.117;0.117;0.117	B;B;B;B	0.30716	0.065;0.065;0.119;0.119	T	0.15350	-1.0440	9	0.87932	D	0	.	12.6852	0.56944	0.0:0.0:0.2606:0.7394	.	5951;6076;6143;13375	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	G	12448;5951;6143;6076;5951	ENSP00000343764:R12448G;ENSP00000434586:R5951G;ENSP00000340554:R6143G;ENSP00000352154:R6076G	ENSP00000340554:R6143G	R	-	1	2	TTN	179194848	0.997000	0.39634	0.950000	0.38849	0.938000	0.57974	2.816000	0.48026	0.418000	0.25898	0.533000	0.62120	AGG		PASS	0.383	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		13	61	13	61	---	---	---	---
TTN	7273	broad.mit.edu	37	2	179585181	179585181	+	Missense_Mutation	SNP	C	C	T	rs374739582		TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr2:179585181C>T	ENST00000591111.1	-	78	22581	c.22357G>A	c.(22357-22359)Ggg>Agg	p.G7453R	TTN_ENST00000589042.1_Missense_Mutation_p.G7770R|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.G6526R|TTN_ENST00000460472.2_Intron			Q8WZ42	TITIN_HUMAN	titin	13012	Ig-like 56.				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.G6526R(1)|p.G6526W(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TGATATTCCCCGACATCGGAG	0.373																																						uc010zfg.1																			2	Substitution - Missense(2)		lung(2)	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.(19576-19578)GGG>AGG		titin isoform N2-A		C	ARG/GLY,,,	0,3734		0,0,1867	134.0	124.0	127.0		19576,,,	5.8	0.4	2		127	1,8201		0,1,4100	no	missense,intron,intron,intron	TTN	NM_133378.4,NM_003319.4,NM_133432.3,NM_133437.3	125,,,	0,1,5967	TT,TC,CC		0.0122,0.0,0.0084	probably-damaging,,,	6526/33424,,,	179585181	1,11935	1867	4101	5968	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179585181C>T	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.22357G>A	2.37:g.179585181C>T	ENSP00000465570:p.Gly7453Arg					TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.G3187R	p.G6526R	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		77	19800	-			7453					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.19576G>A		.	.	.	.	.	.	.	.	.	.	C	13.38	2.218551	0.39201	0.0	1.22E-4	ENSG00000155657	ENST00000342992	T	0.77620	-1.11	5.76	5.76	0.90799	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	D	0.94278	0.8162	H	0.99712	4.72	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	D	0.96593	0.9439	9	0.87932	D	0	.	19.9659	0.97266	0.0:1.0:0.0:0.0	.	7453	Q8WZ42	TITIN_HUMAN	R	6526	ENSP00000343764:G6526R	ENSP00000343764:G6526R	G	-	1	0	TTN	179293426	1.000000	0.71417	0.444000	0.26895	0.720000	0.41350	7.818000	0.86416	2.711000	0.92665	0.650000	0.86243	GGG		PASS	0.373	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		39	137	39	137	---	---	---	---
TTN	7273	broad.mit.edu	37	2	179605898	179605898	+	Missense_Mutation	SNP	G	G	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr2:179605898G>T	ENST00000591111.1	-	46	11335	c.11111C>A	c.(11110-11112)aCc>aAc	p.T3704N	TTN-AS1_ENST00000582847.1_RNA|TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.T4021N|TTN_ENST00000342175.6_Missense_Mutation_p.T3850N|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.T3783N|TTN_ENST00000342992.6_Intron|TTN_ENST00000460472.2_Missense_Mutation_p.T3658N			Q8WZ42	TITIN_HUMAN	titin	14006	Ig-like 22.				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.T3783N(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TGCTGCACAGGTGGACTCACC	0.493																																						uc010zfh.1																			1	Substitution - Missense(1)		lung(1)	ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153						c.(11548-11550)ACC>AAC		titin isoform novex-2							82.0	84.0	83.0					2																	179605898		1922	4137	6059	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179605898G>T	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.11111C>A	2.37:g.179605898G>T	ENSP00000465570:p.Thr3704Asn					TTN_uc010zfg.1_Intron|TTN_uc010zfi.1_Missense_Mutation_p.T3783N|TTN_uc010zfj.1_Missense_Mutation_p.T3658N|TTN_uc002umz.1_Intron	p.T3850N	NM_133437	NP_597681	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		46	11773	-			Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.11549C>A		.	.	.	.	.	.	.	.	.	.	G	10.58	1.389970	0.25118	.	.	ENSG00000155657	ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T	0.69685	-0.42;-0.42;-0.42	5.87	4.78	0.61160	.	.	.	.	.	T	0.65995	0.2745	L	0.54863	1.705	0.22142	N	0.999335	B;B;B	0.24043	0.096;0.096;0.096	B;B;B	0.31390	0.129;0.129;0.129	T	0.60924	-0.7166	9	0.87932	D	0	.	13.67	0.62418	0.1034:0.0:0.8966:0.0	.	3658;3783;3850	D3DPF9;E7EQE6;E7ET18	.;.;.	N	3658;3850;3783;3658	ENSP00000434586:T3658N;ENSP00000340554:T3850N;ENSP00000352154:T3783N	ENSP00000340554:T3850N	T	-	2	0	TTN	179314143	0.933000	0.31639	0.925000	0.36789	0.463000	0.32649	3.838000	0.55828	2.941000	0.99782	0.655000	0.94253	ACC		PASS	0.493	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		28	136	28	136	---	---	---	---
TTN	7273	broad.mit.edu	37	2	179611228	179611228	+	Intron	SNP	G	G	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr2:179611228G>T	ENST00000591111.1	-	46	10585				TTN_ENST00000360870.5_Missense_Mutation_p.T5300K|TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000589042.1_Intron|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000578746.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000342992.6_Intron|TTN_ENST00000460472.2_Intron			Q8WZ42	TITIN_HUMAN	titin						adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TCTTGATGATGTGGTGTGTTC	0.403																																						uc002unb.2																			0				ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153						c.(15898-15900)ACA>AAA		titin isoform novex-3							110.0	104.0	106.0					2																	179611228		2203	4299	6502	SO:0001627	intron_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179611228G>T	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.10361-4580C>A	2.37:g.179611228G>T						TTN_uc010zfg.1_Intron|TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Intron	p.T5300K	NM_133379	NP_596870	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		46	16123	-			Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.15899C>A		.	.	.	.	.	.	.	.	.	.	G	7.478	0.648036	0.14516	.	.	ENSG00000155657	ENST00000360870;ENST00000306136	T	0.56103	0.48	5.44	3.57	0.40892	.	.	.	.	.	T	0.50735	0.1633	N	0.22421	0.69	0.30563	N	0.764309	D	0.53312	0.959	D	0.62955	0.909	T	0.41197	-0.9522	9	0.06494	T	0.89	.	12.2718	0.54710	0.0:0.1258:0.7353:0.1388	.	5300	Q8WZ42-6	.	K	5300;581	ENSP00000354117:T5300K	ENSP00000304714:T581K	T	-	2	0	TTN	179319473	0.191000	0.23288	0.002000	0.10522	0.854000	0.48673	1.916000	0.39986	0.723000	0.32274	0.655000	0.94253	ACA		PASS	0.403	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		19	71	19	71	---	---	---	---
TTN	7273	broad.mit.edu	37	2	179640772	179640772	+	Missense_Mutation	SNP	C	C	G			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr2:179640772C>G	ENST00000591111.1	-	28	6043	c.5819G>C	c.(5818-5820)aGg>aCg	p.R1940T	TTN-AS1_ENST00000584485.1_RNA|TTN_ENST00000360870.5_Missense_Mutation_p.R1940T|TTN-AS1_ENST00000610005.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.R1940T|TTN_ENST00000342175.6_Missense_Mutation_p.R1894T|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.R1894T|TTN_ENST00000342992.6_Missense_Mutation_p.R1940T|RP11-88L24.4_ENST00000582038.2_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.R1894T			Q8WZ42	TITIN_HUMAN	titin	12770					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.R1894T(3)|p.R1940T(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)			AGGAGCTCTCCTAAGGACAGA	0.453																																						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.(5818-5820)AGG>ACG		titin isoform N2-A							178.0	185.0	183.0					2																	179640772		2203	4300	6503	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179640772C>G	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.5819G>C	2.37:g.179640772C>G	ENSP00000465570:p.Arg1940Thr					TTN_uc010zfh.1_Missense_Mutation_p.R1894T|TTN_uc010zfi.1_Missense_Mutation_p.R1894T|TTN_uc010zfj.1_Missense_Mutation_p.R1894T|TTN_uc002unb.2_Missense_Mutation_p.R1940T|uc002unc.1_5'Flank	p.R1940T	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		28	6043	-			1940					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.5819G>C		.	.	.	.	.	.	.	.	.	.	C	11.65	1.702082	0.30232	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127;ENST00000360870	T;T;T;T;T	0.65178	-0.14;0.11;0.08;0.07;0.31	5.1	5.1	0.69264	Ribonuclease H-like (1);	.	.	.	.	T	0.72137	0.3423	L	0.34521	1.04	0.39918	D	0.974119	D;D;D;D;D	0.89917	0.999;0.999;0.999;0.999;1.0	D;D;D;D;D	0.91635	0.991;0.991;0.991;0.991;0.999	T	0.76756	-0.2842	9	0.87932	D	0	.	18.5142	0.90930	0.0:1.0:0.0:0.0	.	1894;1894;1894;1940;1940	D3DPF9;E7EQE6;E7ET18;Q8WZ42;Q8WZ42-6	.;.;.;TITIN_HUMAN;.	T	1940;1894;1894;1894;1894;1940	ENSP00000343764:R1940T;ENSP00000434586:R1894T;ENSP00000340554:R1894T;ENSP00000352154:R1894T;ENSP00000354117:R1940T	ENSP00000340554:R1894T	R	-	2	0	TTN	179349017	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	7.779000	0.85648	2.385000	0.81259	0.609000	0.83330	AGG		PASS	0.453	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		58	222	58	222	---	---	---	---
TTN	7273	broad.mit.edu	37	2	179644907	179644907	+	Silent	SNP	G	G	C			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr2:179644907G>C	ENST00000591111.1	-	22	3773	c.3549C>G	c.(3547-3549)tcC>tcG	p.S1183S	TTN_ENST00000360870.5_Silent_p.S1183S|TTN_ENST00000589042.1_Silent_p.S1183S|TTN_ENST00000342175.6_Silent_p.S1137S|TTN_ENST00000359218.5_Silent_p.S1137S|TTN_ENST00000342992.6_Silent_p.S1183S|RP11-88L24.4_ENST00000582038.2_RNA|TTN_ENST00000460472.2_Silent_p.S1137S			Q8WZ42	TITIN_HUMAN	titin	33401					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.S1137S(3)|p.S1183S(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)			TTTCTTGCTGGGACTTCATCA	0.348																																						uc010zfg.1																			6	Substitution - coding silent(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.(3547-3549)TCC>TCG		titin isoform N2-A							101.0	96.0	98.0					2																	179644907		2203	4300	6503	SO:0001819	synonymous_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179644907G>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.3549C>G	2.37:g.179644907G>C						TTN_uc010zfh.1_Silent_p.S1137S|TTN_uc010zfi.1_Silent_p.S1137S|TTN_uc010zfj.1_Silent_p.S1137S|TTN_uc002unb.2_Silent_p.S1183S	p.S1183S	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		22	3773	-			1183					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	Silent	SNP	ENST00000591111.1	37	c.3549C>G																																																																																					PASS	0.348	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		26	105	26	105	---	---	---	---
TTN	7273	broad.mit.edu	37	2	179658139	179658139	+	Missense_Mutation	SNP	G	G	C			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr2:179658139G>C	ENST00000591111.1	-	9	1752	c.1528C>G	c.(1528-1530)Cat>Gat	p.H510D	TTN_ENST00000360870.5_Missense_Mutation_p.H510D|TTN_ENST00000589042.1_Missense_Mutation_p.H510D|TTN_ENST00000342175.6_Missense_Mutation_p.H510D|TTN_ENST00000359218.5_Missense_Mutation_p.H510D|TTN_ENST00000342992.6_Missense_Mutation_p.H510D|TTN_ENST00000460472.2_Missense_Mutation_p.H510D			Q8WZ42	TITIN_HUMAN	titin	0					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.H510D(6)		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)			ACCTGCTCATGAGTTACGTGC	0.403																																						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.(1528-1530)CAT>GAT		titin isoform N2-A							363.0	364.0	364.0					2																	179658139		2203	4300	6503	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179658139G>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.1528C>G	2.37:g.179658139G>C	ENSP00000465570:p.His510Asp					TTN_uc010zfh.1_Missense_Mutation_p.H510D|TTN_uc010zfi.1_Missense_Mutation_p.H510D|TTN_uc010zfj.1_Missense_Mutation_p.H510D|TTN_uc002unb.2_Missense_Mutation_p.H510D|TTN_uc010frg.1_Missense_Mutation_p.H184D	p.H510D	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		9	1752	-			510					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.1528C>G		.	.	.	.	.	.	.	.	.	.	G	13.93	2.384342	0.42308	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127;ENST00000360870;ENST00000436599	T;T;T;T;T;T	0.46819	0.86;0.86;0.86;0.86;0.86;0.86	5.61	5.61	0.85477	Titin Z (1);Ribonuclease H-like (1);	.	.	.	.	T	0.39036	0.1063	N	0.24115	0.695	0.27609	N	0.948738	B;B;B;B;P	0.36535	0.033;0.033;0.033;0.033;0.557	B;B;B;B;B	0.33620	0.042;0.042;0.042;0.042;0.167	T	0.44742	-0.9308	9	0.87932	D	0	.	18.7622	0.91856	0.0:0.0:1.0:0.0	.	510;510;510;510;510	D3DPF9;E7EQE6;E7ET18;Q8WZ42;Q8WZ42-6	.;.;.;TITIN_HUMAN;.	D	510;510;510;510;510;510;106	ENSP00000343764:H510D;ENSP00000434586:H510D;ENSP00000340554:H510D;ENSP00000352154:H510D;ENSP00000354117:H510D;ENSP00000405517:H106D	ENSP00000340554:H510D	H	-	1	0	TTN	179366384	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	4.505000	0.60421	2.791000	0.96007	0.650000	0.86243	CAT		PASS	0.403	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		127	179	127	179	---	---	---	---
CERKL	375298	broad.mit.edu	37	2	182409456	182409456	+	Missense_Mutation	SNP	G	G	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr2:182409456G>T	ENST00000339098.5	-	12	1413	c.1414C>A	c.(1414-1416)Ctg>Atg	p.L472M	CERKL_ENST00000409440.3_Missense_Mutation_p.L428M|CERKL_ENST00000410087.3_Missense_Mutation_p.L446M|CERKL_ENST00000374969.2_Missense_Mutation_p.L333M|CERKL_ENST00000479558.1_5'UTR|CERKL_ENST00000374970.2_Missense_Mutation_p.L377M			Q49MI3	CERKL_HUMAN	ceramide kinase-like	472					negative regulation of apoptotic process (GO:0043066)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|nucleolus (GO:0005730)|nucleus (GO:0005634)	diacylglycerol kinase activity (GO:0004143)|NAD+ kinase activity (GO:0003951)	p.L472M(1)|p.L446M(1)		NS(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(13)|ovary(3)|skin(3)	32			OV - Ovarian serous cystadenocarcinoma(117;0.088)			TATCTTTTCAGGTGTTTTATA	0.294																																						uc002unx.2																			2	Substitution - Missense(2)		lung(2)	ovary(2)|kidney(1)|skin(1)	4						c.(1414-1416)CTG>ATG		ceramide kinase-like isoform b							60.0	61.0	61.0					2																	182409456		2202	4293	6495	SO:0001583	missense	375298				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|anti-apoptosis	endoplasmic reticulum|endoplasmic reticulum|Golgi apparatus|Golgi apparatus|nucleolus|nucleolus	diacylglycerol kinase activity	g.chr2:182409456G>T	BC020465	CCDS33340.1, CCDS33341.1, CCDS42789.1, CCDS46466.1, CCDS54425.1	2q31.3	2005-01-04			ENSG00000188452	ENSG00000188452			21699	protein-coding gene	gene with protein product			"""retinitis pigmentosa 26 (autosomal recessive)"""	RP26		14681825	Standard	NR_027689		Approved		uc002uny.3	Q49MI3	OTTHUMG00000154315	ENST00000339098.5:c.1414C>A	2.37:g.182409456G>T	ENSP00000341159:p.Leu472Met					CERKL_uc002uny.2_Missense_Mutation_p.L446M|CERKL_uc010zfm.1_Missense_Mutation_p.L428M|CERKL_uc002unz.2_Missense_Mutation_p.L194M|CERKL_uc002uoa.2_Missense_Mutation_p.L377M|CERKL_uc002uob.2_Missense_Mutation_p.L194M|CERKL_uc002uoc.2_Missense_Mutation_p.L333M|CERKL_uc010frk.2_RNA|CERKL_uc002uod.1_Missense_Mutation_p.L241M|CERKL_uc002unw.2_Missense_Mutation_p.L42M	p.L472M	NM_001030311	NP_001025482	Q49MI3	CERKL_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.088)		12	1515	-			472					B2RPL2|B4DEY1|Q49MH9|Q49MI0|Q49MI1|Q49MI2|Q5DVJ2|Q5DVJ4|Q5DVJ5|Q6UZF6|Q6ZP59	Missense_Mutation	SNP	ENST00000339098.5	37	c.1414C>A	CCDS42789.1	.	.	.	.	.	.	.	.	.	.	g	17.13	3.311819	0.60414	.	.	ENSG00000188452	ENST00000410087;ENST00000409440;ENST00000374969;ENST00000339098;ENST00000374970	T;T;T;T;T	0.16597	2.33;2.33;2.33;2.33;2.33	5.98	-0.0572	0.13802	.	0.000000	0.64402	D	0.000001	T	0.37865	0.1019	M	0.80422	2.495	0.41259	D	0.98676	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;0.999;0.998;1.0;0.999	T	0.06356	-1.0831	10	0.45353	T	0.12	.	10.051	0.42216	0.4716:0.0:0.5284:0.0	.	428;333;377;446;472	B4DEY1;Q49MI3-4;Q49MI3-3;Q49MI3-2;Q49MI3	.;.;.;.;CERKL_HUMAN	M	446;428;333;472;377	ENSP00000386725:L446M;ENSP00000387080:L428M;ENSP00000364108:L333M;ENSP00000341159:L472M;ENSP00000364109:L377M	ENSP00000341159:L472M	L	-	1	2	CERKL	182117701	1.000000	0.71417	0.982000	0.44146	0.933000	0.57130	1.814000	0.38972	-0.300000	0.08895	-1.551000	0.00897	CTG		PASS	0.294	CERKL-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334811.1			41	48	41	48	---	---	---	---
ZNF804A	91752	broad.mit.edu	37	2	185802585	185802585	+	Missense_Mutation	SNP	C	C	G			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr2:185802585C>G	ENST00000302277.6	+	4	3056	c.2462C>G	c.(2461-2463)cCc>cGc	p.P821R		NM_194250.1	NP_919226.1	Q7Z570	Z804A_HUMAN	zinc finger protein 804A	821							metal ion binding (GO:0046872)	p.P821H(1)|p.P821R(1)		NS(5)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(22)|liver(2)|lung(79)|ovary(7)|pancreas(1)|prostate(2)|skin(12)|urinary_tract(1)	146						AGATTCCACCCCGGATTTGAA	0.388																																						uc002uph.2																			2	Substitution - Missense(2)		lung(2)	ovary(6)|skin(3)|large_intestine(1)|pancreas(1)	11						c.(2461-2463)CCC>CGC		zinc finger protein 804A							43.0	49.0	47.0					2																	185802585		2199	4299	6498	SO:0001583	missense	91752					intracellular	zinc ion binding	g.chr2:185802585C>G	AF052145	CCDS2291.1	2q32.1	2012-10-05	2006-10-27	2006-10-27	ENSG00000170396	ENSG00000170396			21711	protein-coding gene	gene with protein product		612282		C2orf10		12970790	Standard	NM_194250		Approved		uc002uph.3	Q7Z570	OTTHUMG00000132625	ENST00000302277.6:c.2462C>G	2.37:g.185802585C>G	ENSP00000303252:p.Pro821Arg						p.P821R	NM_194250	NP_919226	Q7Z570	Z804A_HUMAN			4	3056	+			821					A7E253|Q6ZN26	Missense_Mutation	SNP	ENST00000302277.6	37	c.2462C>G	CCDS2291.1	.	.	.	.	.	.	.	.	.	.	C	1.962	-0.438738	0.04636	.	.	ENSG00000170396	ENST00000302277	T	0.05258	3.47	5.81	0.543	0.17179	.	1.276940	0.05254	N	0.514537	T	0.03739	0.0106	N	0.08118	0	0.09310	N	1	B	0.25521	0.128	B	0.23574	0.047	T	0.43163	-0.9408	10	0.45353	T	0.12	0.1148	4.9123	0.13829	0.3281:0.4453:0.0:0.2266	.	821	Q7Z570	Z804A_HUMAN	R	821	ENSP00000303252:P821R	ENSP00000303252:P821R	P	+	2	0	ZNF804A	185510830	0.000000	0.05858	0.000000	0.03702	0.076000	0.17211	-0.232000	0.09055	0.073000	0.16731	0.655000	0.94253	CCC		PASS	0.388	ZNF804A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255871.1	NM_194250		26	59	26	59	---	---	---	---
FSIP2	401024	broad.mit.edu	37	2	186678561	186678561	+	Missense_Mutation	SNP	C	C	G	rs368822933		TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr2:186678561C>G	ENST00000424728.1	+	18	20117	c.20117C>G	c.(20116-20118)aCg>aGg	p.T6706R	FSIP2_ENST00000343098.5_Missense_Mutation_p.T6795R			Q5CZC0	FSIP2_HUMAN	fibrous sheath interacting protein 2	6706								p.T1404R(2)		NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(11)|lung(46)|pancreas(1)|urinary_tract(2)	69						ACACTAAGCACGAGCAGCCTG	0.358																																						uc002upm.2																			2	Substitution - Missense(2)		lung(2)										Homo sapiens cDNA FLJ44048 fis, clone TESTI4030669.							82.0	80.0	80.0					2																	186678561		1867	4120	5987	SO:0001583	missense	0							g.chr2:186678561C>G	AK092099	CCDS54426.1	2q32.1	2010-06-18			ENSG00000188738	ENSG00000188738			21675	protein-coding gene	gene with protein product		615796				14702039	Standard	NM_173651		Approved	FLJ34780	uc002upl.3	Q5CZC0	OTTHUMG00000153874	ENST00000424728.1:c.20117C>G	2.37:g.186678561C>G	ENSP00000401306:p.Thr6706Arg					uc010zfu.1_Missense_Mutation_p.T1204R								2		+								Q53TL3|Q53TN5|Q5HYH2|Q6ZTZ5|Q6ZU14|Q6ZU21	RNA	SNP	ENST00000424728.1	37	c.3199C>G		.	.	.	.	.	.	.	.	.	.	C	10.51	1.371376	0.24771	.	.	ENSG00000188738	ENST00000343098;ENST00000424728	T;T	0.46819	0.86;0.86	5.32	-1.13	0.09775	.	0.245465	0.29198	N	0.012841	T	0.37100	0.0991	L	0.29908	0.895	0.09310	N	1	.	.	.	.	.	.	T	0.36817	-0.9732	8	0.66056	D	0.02	.	9.2391	0.37484	0.6599:0.2654:0.0:0.0746	.	.	.	.	R	6795;6706	ENSP00000344403:T6795R;ENSP00000401306:T6706R	ENSP00000344403:T6795R	T	+	2	0	FSIP2	186386806	0.003000	0.15002	0.000000	0.03702	0.000000	0.00434	0.939000	0.28978	-0.445000	0.07159	-0.912000	0.02778	ACG		PASS	0.358	FSIP2-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000332778.3	NM_173651		32	39	32	39	---	---	---	---
ITGAV	3685	broad.mit.edu	37	2	187521118	187521118	+	Missense_Mutation	SNP	C	C	T	rs199670325		TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr2:187521118C>T	ENST00000261023.3	+	17	1983	c.1709C>T	c.(1708-1710)gCg>gTg	p.A570V	ITGAV_ENST00000374907.3_Missense_Mutation_p.A534V|AC017101.10_ENST00000453665.1_RNA|ITGAV_ENST00000433736.2_Missense_Mutation_p.A524V	NM_002210.3	NP_002201	P06756	ITAV_HUMAN	integrin, alpha V	570					angiogenesis (GO:0001525)|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)|apolipoprotein A-I-mediated signaling pathway (GO:0038027)|apoptotic cell clearance (GO:0043277)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|cell adhesion (GO:0007155)|cell growth (GO:0016049)|cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|cell-substrate adhesion (GO:0031589)|endodermal cell differentiation (GO:0035987)|entry of symbiont into host cell by promotion of host phagocytosis (GO:0052066)|ERK1 and ERK2 cascade (GO:0070371)|extracellular matrix organization (GO:0030198)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|heterotypic cell-cell adhesion (GO:0034113)|integrin-mediated signaling pathway (GO:0007229)|leukocyte migration (GO:0050900)|negative chemotaxis (GO:0050919)|negative regulation of entry of bacterium into host cell (GO:2000536)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of lipid storage (GO:0010888)|negative regulation of lipid transport (GO:0032369)|negative regulation of lipoprotein metabolic process (GO:0050748)|negative regulation of low-density lipoprotein particle receptor biosynthetic process (GO:0045715)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of osteoblast proliferation (GO:0033690)|regulation of apoptotic cell clearance (GO:2000425)|regulation of phagocytosis (GO:0050764)|substrate adhesion-dependent cell spreading (GO:0034446)|viral entry into host cell (GO:0046718)	alphav-beta3 integrin-IGF-1-IGF1R complex (GO:0035867)|cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|filopodium membrane (GO:0031527)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|integrin alphav-beta3 complex (GO:0034683)|integrin alphav-beta5 complex (GO:0034684)|integrin alphav-beta8 complex (GO:0034686)|integrin complex (GO:0008305)|lamellipodium membrane (GO:0031258)|membrane (GO:0016020)|microvillus membrane (GO:0031528)|phagocytic vesicle (GO:0045335)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	extracellular matrix binding (GO:0050840)|extracellular matrix protein binding (GO:1990430)|fibronectin binding (GO:0001968)|metal ion binding (GO:0046872)|protease binding (GO:0002020)|transforming growth factor beta binding (GO:0050431)|virus receptor activity (GO:0001618)|voltage-gated calcium channel activity (GO:0005245)	p.A570V(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	47			OV - Ovarian serous cystadenocarcinoma(117;0.0185)|Epithelial(96;0.072)|all cancers(119;0.189)	STAD - Stomach adenocarcinoma(3;0.106)|COAD - Colon adenocarcinoma(31;0.108)	Antithymocyte globulin(DB00098)	GAATTGATAGCGTATCTGCGG	0.403																																					Melanoma(58;108 1995 6081)	uc002upq.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|kidney(1)|skin(1)	4						c.(1708-1710)GCG>GTG		integrin alpha-V isoform 1 precursor		C	VAL/ALA,VAL/ALA,VAL/ALA	0,4406		0,0,2203	289.0	263.0	272.0		1571,1601,1709	5.4	0.1	2		272	2,8598	3.0+/-9.4	0,2,4298	yes	missense,missense,missense	ITGAV	NM_001144999.1,NM_001145000.1,NM_002210.3	64,64,64	0,2,6501	TT,TC,CC		0.0233,0.0,0.0154	benign,benign,benign	524/1003,534/1013,570/1049	187521118	2,13004	2203	4300	6503	SO:0001583	missense	3685				angiogenesis|axon guidance|blood coagulation|cell-matrix adhesion|entry of bacterium into host cell|entry of symbiont into host cell by promotion of host phagocytosis|entry of virus into host cell|ERK1 and ERK2 cascade|integrin-mediated signaling pathway|leukocyte migration|negative regulation of apoptosis|negative regulation of lipid storage|negative regulation of lipid transport|negative regulation of lipoprotein metabolic process|negative regulation of low-density lipoprotein particle receptor biosynthetic process|negative regulation of macrophage derived foam cell differentiation|positive regulation of cell adhesion|positive regulation of cell proliferation|regulation of apoptotic cell clearance	integrin complex	receptor activity|transforming growth factor beta binding	g.chr2:187521118C>T		CCDS2292.1, CCDS46470.1, CCDS46471.1	2q31-q32	2012-04-20	2012-04-20		ENSG00000138448	ENSG00000138448		"""CD molecules"", ""Integrins"""	6150	protein-coding gene	gene with protein product		193210	"""antigen identified by monoclonal antibody L230"", ""vitronectin receptor"", ""integrin, alpha V (vitronectin receptor, alpha polypeptide, antigen CD51)"""	VNRA, MSK8, VTNR		2454952	Standard	NM_001144999		Approved	CD51	uc002upq.4	P06756	OTTHUMG00000132635	ENST00000261023.3:c.1709C>T	2.37:g.187521118C>T	ENSP00000261023:p.Ala570Val					ITGAV_uc010frs.2_Missense_Mutation_p.A534V|ITGAV_uc010zfv.1_Missense_Mutation_p.A524V	p.A570V	NM_002210	NP_002201	P06756	ITAV_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0185)|Epithelial(96;0.072)|all cancers(119;0.189)	STAD - Stomach adenocarcinoma(3;0.106)|COAD - Colon adenocarcinoma(31;0.108)	17	1985	+			570			Extracellular (Potential).		A0AV67|B0LPF4|B7Z883|B7ZLX0|D3DPG8|E7EWZ6|Q53SK4|Q59EB7|Q6LD15	Missense_Mutation	SNP	ENST00000261023.3	37	c.1709C>T	CCDS2292.1	.	.	.	.	.	.	.	.	.	.	C	6.699	0.497625	0.12762	0.0	2.33E-4	ENSG00000138448	ENST00000261023;ENST00000374907;ENST00000433736	T;T;T	0.39592	1.07;1.07;1.07	5.41	5.41	0.78517	Integrin alpha-2 (1);	0.048771	0.85682	D	0.000000	T	0.36663	0.0975	L	0.45285	1.41	0.80722	D	1	P;P;P	0.47409	0.895;0.486;0.895	B;B;B	0.42692	0.395;0.08;0.395	T	0.24764	-1.0151	10	0.02654	T	1	.	19.2	0.93708	0.0:1.0:0.0:0.0	.	524;534;570	E7EWZ6;P06756-2;P06756	.;.;ITAV_HUMAN	V	570;534;524	ENSP00000261023:A570V;ENSP00000364042:A534V;ENSP00000404291:A524V	ENSP00000261023:A570V	A	+	2	0	ITGAV	187229363	1.000000	0.71417	0.114000	0.21550	0.796000	0.44982	5.528000	0.67129	2.541000	0.85698	0.455000	0.32223	GCG		PASS	0.403	ITGAV-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255882.2	NM_002210		94	142	94	142	---	---	---	---
SGOL2	151246	broad.mit.edu	37	2	201438624	201438624	+	Missense_Mutation	SNP	A	A	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr2:201438624A>T	ENST00000357799.4	+	7	3653	c.3555A>T	c.(3553-3555)caA>caT	p.Q1185H		NM_001160033.1|NM_001160046.1|NM_152524.5	NP_001153505.1|NP_001153518.1|NP_689737.4	Q562F6	SGOL2_HUMAN	shugoshin-like 2 (S. pombe)	1185					meiotic sister chromatid cohesion, centromeric (GO:0051754)|mitotic cell cycle (GO:0000278)	chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|kinetochore (GO:0000776)|mitotic cohesin complex (GO:0030892)|nucleus (GO:0005634)		p.Q1185H(1)		NS(2)|breast(2)|cervix(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	46						CAGCCTTTCAAGTAAGTGATG	0.363																																						uc002uvw.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(2)	4						c.(3553-3555)CAA>CAT		shugoshin-like 2 isoform 1							77.0	71.0	73.0					2																	201438624		1820	4080	5900	SO:0001583	missense	151246				cell division|mitotic prometaphase	condensed chromosome kinetochore|cytosol|mitotic cohesin complex	protein binding	g.chr2:201438624A>T	AY094614	CCDS42796.1	2q33.2	2008-02-05			ENSG00000163535	ENSG00000163535			30812	protein-coding gene	gene with protein product		612425					Standard	NM_001160046		Approved	TRIPIN, FLJ25211	uc002uvw.2	Q562F6	OTTHUMG00000154535	ENST00000357799.4:c.3555A>T	2.37:g.201438624A>T	ENSP00000350447:p.Gln1185His					SGOL2_uc010zhd.1_Missense_Mutation_p.Q1185H|SGOL2_uc010zhe.1_Missense_Mutation_p.Q1185H	p.Q1185H	NM_152524	NP_689737	Q562F6	SGOL2_HUMAN			7	3668	+			1185					Q53RR9|Q53T20|Q86XY4|Q8IWK2|Q8IZK1|Q8N1Q5|Q96LQ3	Missense_Mutation	SNP	ENST00000357799.4	37	c.3555A>T	CCDS42796.1	.	.	.	.	.	.	.	.	.	.	A	14.06	2.421916	0.43020	.	.	ENSG00000163535	ENST00000357799	T	0.13420	2.59	5.52	-0.979	0.10276	.	0.982508	0.08300	N	0.966996	T	0.11793	0.0287	L	0.50333	1.59	0.09310	N	1	B;B;B	0.17667	0.023;0.023;0.023	B;B;B	0.18871	0.023;0.023;0.023	T	0.41502	-0.9505	10	0.87932	D	0	1.5275	2.824	0.05480	0.4367:0.0:0.2557:0.3076	.	1185;1185;1185	B7Z7S9;Q562F6-2;Q562F6	.;.;SGOL2_HUMAN	H	1185	ENSP00000350447:Q1185H	ENSP00000350447:Q1185H	Q	+	3	2	SGOL2	201146869	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	0.289000	0.18957	0.180000	0.19960	-0.256000	0.11100	CAA		PASS	0.363	SGOL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335834.1	NM_152524		55	79	55	79	---	---	---	---
AOX1	316	broad.mit.edu	37	2	201515773	201515773	+	Missense_Mutation	SNP	A	A	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr2:201515773A>T	ENST00000374700.2	+	26	3165	c.2924A>T	c.(2923-2925)cAg>cTg	p.Q975L	AOX1_ENST00000485106.1_3'UTR	NM_001159.3	NP_001150.3	Q06278	AOXA_HUMAN	aldehyde oxidase 1	975					inflammatory response (GO:0006954)|reactive oxygen species metabolic process (GO:0072593)|small molecule metabolic process (GO:0044281)|vitamin B6 metabolic process (GO:0042816)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	2 iron, 2 sulfur cluster binding (GO:0051537)|aldehyde oxidase activity (GO:0004031)|electron carrier activity (GO:0009055)|flavin adenine dinucleotide binding (GO:0050660)|iron ion binding (GO:0005506)|molybdopterin cofactor binding (GO:0043546)|NAD binding (GO:0051287)|UDP-N-acetylmuramate dehydrogenase activity (GO:0008762)|xanthine dehydrogenase activity (GO:0004854)	p.Q975L(1)		breast(5)|endometrium(3)|kidney(4)|large_intestine(13)|lung(38)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	81					Allopurinol(DB00437)|Aminocaproic Acid(DB00513)|Brimonidine(DB00484)|Famciclovir(DB00426)|Menadione(DB00170)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|Pyrazinamide(DB00339)|Raloxifene(DB00481)|Zaleplon(DB00962)|Zonisamide(DB00909)	AACCTAATCCAGTGTTGGAGA	0.398																																						uc002uvx.2																			1	Substitution - Missense(1)		lung(1)	ovary(4)|pancreas(1)|skin(1)	6						c.(2923-2925)CAG>CTG		aldehyde oxidase 1	Brimonidine(DB00484)|Chlorpromazine(DB00477)|Famciclovir(DB00426)|Menadione(DB00170)|Methotrexate(DB00563)|NADH(DB00157)|Palonosetron(DB00377)|Penciclovir(DB00299)|Raloxifene(DB00481)|Zaleplon(DB00962)|Zonisamide(DB00909)						154.0	142.0	146.0					2																	201515773		2203	4300	6503	SO:0001583	missense	316				inflammatory response|reactive oxygen species metabolic process	cytoplasm	2 iron, 2 sulfur cluster binding|aldehyde oxidase activity|flavin adenine dinucleotide binding|iron ion binding|NAD binding|xanthine dehydrogenase activity	g.chr2:201515773A>T	AF017060	CCDS33360.1	2q33	2008-05-20			ENSG00000138356	ENSG00000138356			553	protein-coding gene	gene with protein product		602841				7570184	Standard	NM_001159		Approved	AO, AOH1	uc002uvx.3	Q06278	OTTHUMG00000154536	ENST00000374700.2:c.2924A>T	2.37:g.201515773A>T	ENSP00000363832:p.Gln975Leu					AOX1_uc010zhf.1_Missense_Mutation_p.Q531L|AOX1_uc010fsu.2_Missense_Mutation_p.Q341L	p.Q975L	NM_001159	NP_001150	Q06278	ADO_HUMAN			26	3025	+			975					O14765|Q53RR8|Q53TV3|Q9BYF0|Q9UPG6	Missense_Mutation	SNP	ENST00000374700.2	37	c.2924A>T	CCDS33360.1	.	.	.	.	.	.	.	.	.	.	A	9.940	1.217134	0.22373	.	.	ENSG00000138356	ENST00000374700	T	0.43688	0.94	5.41	4.26	0.50523	Aldehyde oxidase/xanthine dehydrogenase, molybdopterin binding (2);	0.187911	0.47852	D	0.000208	T	0.21427	0.0516	N	0.11845	0.185	0.26485	N	0.975033	B	0.12630	0.006	B	0.15870	0.014	T	0.12604	-1.0541	10	0.66056	D	0.02	-24.9769	2.8457	0.05542	0.6003:0.0:0.2164:0.1833	.	975	Q06278	ADO_HUMAN	L	975	ENSP00000363832:Q975L	ENSP00000363832:Q975L	Q	+	2	0	AOX1	201224018	1.000000	0.71417	0.978000	0.43139	0.045000	0.14185	2.325000	0.43840	1.086000	0.41228	0.533000	0.62120	CAG		PASS	0.398	AOX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335844.1	NM_001159		35	123	35	123	---	---	---	---
CASP10	843	broad.mit.edu	37	2	202074132	202074132	+	Missense_Mutation	SNP	A	A	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr2:202074132A>T	ENST00000272879.5	+	9	1446	c.1262A>T	c.(1261-1263)cAg>cTg	p.Q421L	CASP10_ENST00000313728.7_Missense_Mutation_p.Q354L|CASP10_ENST00000492363.1_3'UTR|CASP10_ENST00000448480.1_Missense_Mutation_p.Q378L|CASP10_ENST00000346817.5_Missense_Mutation_p.Q378L|CASP10_ENST00000286186.6_Missense_Mutation_p.Q421L|CASP10_ENST00000360132.3_3'UTR	NM_032974.4	NP_116756.2	Q92851	CASPA_HUMAN	caspase 10, apoptosis-related cysteine peptidase	421					apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|innate immune response (GO:0045087)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|regulation of apoptotic process (GO:0042981)	CD95 death-inducing signaling complex (GO:0031265)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|plasma membrane (GO:0005886)|ripoptosome (GO:0097342)	cysteine-type endopeptidase activity (GO:0004197)|cysteine-type endopeptidase activity involved in apoptotic signaling pathway (GO:0097199)|death effector domain binding (GO:0035877)|ubiquitin protein ligase binding (GO:0031625)	p.Q421L(2)		breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	27						AACCCTGAGCAGGCACCCACT	0.527																																						uc002uxl.1																			2	Substitution - Missense(2)		lung(2)	skin(3)|ovary(1)|pancreas(1)|breast(1)	6						c.(1261-1263)CAG>CTG		caspase 10 isoform b preproprotein							94.0	85.0	88.0					2																	202074132		2203	4300	6503	SO:0001583	missense	843				apoptosis|induction of apoptosis by extracellular signals|proteolysis	cytosol|plasma membrane	cysteine-type endopeptidase activity|identical protein binding|protein binding	g.chr2:202074132A>T	U60519	CCDS2338.1, CCDS2339.1, CCDS2340.1, CCDS56159.1, CCDS56160.1	2q33-q34	2014-09-17	2005-08-17		ENSG00000003400	ENSG00000003400	3.4.22.63	"""Caspases"""	1500	protein-coding gene	gene with protein product		601762	"""caspase 10, apoptosis-related cysteine protease"""			8755496	Standard	NM_032974		Approved	MCH4	uc002uxj.1	Q92851	OTTHUMG00000132818	ENST00000272879.5:c.1262A>T	2.37:g.202074132A>T	ENSP00000272879:p.Gln421Leu					CASP10_uc002uxj.1_Missense_Mutation_p.Q421L|CASP10_uc002uxk.1_Missense_Mutation_p.Q378L|CASP10_uc010fta.1_Missense_Mutation_p.Q354L|CASP10_uc002uxm.1_Missense_Mutation_p.Q378L|CASP10_uc010ftb.1_RNA	p.Q421L	NM_032974	NP_116756	Q92851	CASPA_HUMAN			9	1680	+			421					Q68HC0|Q6KF62|Q6KF63|Q8IUP5|Q8WYQ8|Q99845|Q9Y2U6|Q9Y2U7	Missense_Mutation	SNP	ENST00000272879.5	37	c.1262A>T	CCDS2338.1	.	.	.	.	.	.	.	.	.	.	A	9.880	1.201432	0.22121	.	.	ENSG00000003400	ENST00000286186;ENST00000272879;ENST00000346817;ENST00000313728;ENST00000448480	T;T;T;T;T	0.23147	1.92;1.92;1.92;1.92;1.92	4.93	-9.74	0.00509	Peptidase C14, caspase catalytic (1);Peptidase C14, caspase precursor p45, core (1);	1.839380	0.03365	N	0.198075	T	0.11196	0.0273	N	0.19112	0.55	0.20196	N	0.99993	B;B;B;B;B	0.06786	0.0;0.0;0.001;0.0;0.0	B;B;B;B;B	0.10450	0.001;0.001;0.005;0.002;0.001	T	0.18147	-1.0346	10	0.39692	T	0.17	.	0.386	0.00402	0.2494:0.2432:0.1561:0.3514	.	354;378;421;378;421	Q92851-6;Q92851-5;Q92851;Q92851-2;Q92851-4	.;.;CASPA_HUMAN;.;.	L	421;421;378;354;378	ENSP00000286186:Q421L;ENSP00000272879:Q421L;ENSP00000237865:Q378L;ENSP00000314599:Q354L;ENSP00000396835:Q378L	ENSP00000272879:Q421L	Q	+	2	0	CASP10	201782377	0.000000	0.05858	0.000000	0.03702	0.008000	0.06430	-1.383000	0.02544	-1.245000	0.02513	-0.297000	0.09499	CAG		PASS	0.527	CASP10-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256273.1	NM_032977		65	110	65	110	---	---	---	---
ZDBF2	57683	broad.mit.edu	37	2	207172542	207172542	+	Missense_Mutation	SNP	G	G	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr2:207172542G>T	ENST00000374423.3	+	5	3676	c.3290G>T	c.(3289-3291)tGg>tTg	p.W1097L		NM_020923.1	NP_065974.1	Q9HCK1	ZDBF2_HUMAN	zinc finger, DBF-type containing 2	1097							nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)	p.W1097L(4)		endometrium(4)|kidney(5)|large_intestine(28)|lung(50)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	95						ATAGACCAATGGAAGGAAGAG	0.323																																						uc002vbp.2																			4	Substitution - Missense(4)		lung(4)	ovary(3)	3						c.(3289-3291)TGG>TTG		zinc finger, DBF-type containing 2							47.0	45.0	45.0					2																	207172542		1814	4066	5880	SO:0001583	missense	57683						nucleic acid binding|zinc ion binding	g.chr2:207172542G>T	AB046791	CCDS46501.1, CCDS74637.1	2q33.3	2013-01-10			ENSG00000204186	ENSG00000204186		"""Zinc fingers, DBF-type"""	29313	protein-coding gene	gene with protein product						10997877	Standard	XM_005246711		Approved	FLJ45338, KIAA1571	uc002vbp.2	Q9HCK1	OTTHUMG00000154648	ENST00000374423.3:c.3290G>T	2.37:g.207172542G>T	ENSP00000363545:p.Trp1097Leu						p.W1097L	NM_020923	NP_065974	Q9HCK1	ZDBF2_HUMAN			5	3540	+			1097			Potential.		Q6ZNP7|Q6ZSN8	Missense_Mutation	SNP	ENST00000374423.3	37	c.3290G>T	CCDS46501.1	.	.	.	.	.	.	.	.	.	.	G	8.461	0.855298	0.17106	.	.	ENSG00000204186	ENST00000374423	T	0.49720	0.77	3.89	1.13	0.20643	.	.	.	.	.	T	0.38268	0.1034	L	0.49778	1.585	0.09310	N	1	D	0.54207	0.965	P	0.45913	0.497	T	0.22906	-1.0203	9	0.10111	T	0.7	.	5.8513	0.18694	0.3384:0.0:0.6616:0.0	.	1097	Q9HCK1	ZDBF2_HUMAN	L	1097	ENSP00000363545:W1097L	ENSP00000363545:W1097L	W	+	2	0	ZDBF2	206880787	0.000000	0.05858	0.001000	0.08648	0.003000	0.03518	0.198000	0.17217	0.237000	0.21200	-0.145000	0.13849	TGG		PASS	0.323	ZDBF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336458.1	NM_020923		20	51	20	51	---	---	---	---
MDH1B	130752	broad.mit.edu	37	2	207625738	207625738	+	Splice_Site	SNP	C	C	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr2:207625738C>A	ENST00000374412.3	-	2	298		c.e2-1		MDH1B_ENST00000454776.2_Splice_Site|MDH1B_ENST00000449792.1_Intron|MDH1B_ENST00000392214.2_Splice_Site	NM_001039845.1|NM_001282940.1	NP_001034934.1|NP_001269869.1	Q5I0G3	MDH1B_HUMAN	malate dehydrogenase 1B, NAD (soluble)						carbohydrate metabolic process (GO:0005975)|malate metabolic process (GO:0006108)|tricarboxylic acid cycle (GO:0006099)		malate dehydrogenase activity (GO:0016615)|oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor (GO:0016616)	p.?(1)		NS(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(14)|ovary(4)|stomach(1)	34				LUSC - Lung squamous cell carcinoma(261;0.0763)|Epithelial(149;0.131)|Lung(261;0.145)		TCTGCTCTACCTAAAAGAGTT	0.308																																					Pancreas(76;29 1355 28675 37177 51207)	uc002vbs.2																			1	Unknown(1)		lung(1)	ovary(3)|kidney(1)	4						c.e2-1		malate dehydrogenase 1B, NAD (soluble)							99.0	102.0	101.0					2																	207625738		2203	4300	6503	SO:0001630	splice_region_variant	130752				carbohydrate metabolic process|malate metabolic process|tricarboxylic acid cycle		binding|malate dehydrogenase activity	g.chr2:207625738C>A		CCDS33365.1, CCDS63102.1	2q33.3	2008-05-27			ENSG00000138400	ENSG00000138400			17836	protein-coding gene	gene with protein product							Standard	NM_001039845		Approved	FLJ25341, RP11-95H11	uc002vbs.3	Q5I0G3	OTTHUMG00000132918	ENST00000374412.3:c.23-1G>T	2.37:g.207625738C>A						MDH1B_uc010ziw.1_Splice_Site|MDH1B_uc010fui.2_Splice_Site_p.G8_splice|MDH1B_uc010fuj.2_Intron|MDH1B_uc002vbt.2_Splice_Site	p.G8_splice	NM_001039845	NP_001034934	Q5I0G3	MDH1B_HUMAN		LUSC - Lung squamous cell carcinoma(261;0.0763)|Epithelial(149;0.131)|Lung(261;0.145)	2	78	-								A8K8M1|Q53TK9|Q8IV51	Splice_Site	SNP	ENST00000374412.3	37	c.23_splice	CCDS33365.1	.	.	.	.	.	.	.	.	.	.	C	23.1	4.380467	0.82792	.	.	ENSG00000138400	ENST00000374412;ENST00000454776;ENST00000392214	.	.	.	5.62	5.62	0.85841	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.024	0.97514	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	MDH1B	207333983	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.111000	0.77077	2.809000	0.96659	0.655000	0.94253	.		PASS	0.308	MDH1B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256429.2	NM_001039845	Intron	83	107	83	107	---	---	---	---
ERBB4	2066	broad.mit.edu	37	2	212248595	212248595	+	Missense_Mutation	SNP	G	G	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr2:212248595G>T	ENST00000342788.4	-	28	3982	c.3672C>A	c.(3670-3672)aaC>aaA	p.N1224K	ERBB4_ENST00000436443.1_Missense_Mutation_p.N1208K|ERBB4_ENST00000402597.1_Missense_Mutation_p.N1214K	NM_005235.2	NP_005226.1	Q15303	ERBB4_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 4	1224					cardiac muscle tissue regeneration (GO:0061026)|cell fate commitment (GO:0045165)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|central nervous system morphogenesis (GO:0021551)|embryonic pattern specification (GO:0009880)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|lactation (GO:0007595)|mammary gland alveolus development (GO:0060749)|mammary gland epithelial cell differentiation (GO:0060644)|mitochondrial fragmentation involved in apoptotic process (GO:0043653)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|nervous system development (GO:0007399)|neural crest cell migration (GO:0001755)|neurotrophin TRK receptor signaling pathway (GO:0048011)|olfactory bulb interneuron differentiation (GO:0021889)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell proliferation (GO:0008284)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of STAT protein import into nucleus (GO:2000366)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|protein autophosphorylation (GO:0046777)|regulation of cell migration (GO:0030334)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	basolateral plasma membrane (GO:0016323)|cytosol (GO:0005829)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|epidermal growth factor receptor binding (GO:0005154)|protein homodimerization activity (GO:0042803)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transcription regulatory region DNA binding (GO:0044212)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)	p.N1224K(1)		NS(1)|breast(7)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(31)|lung(71)|pancreas(1)|prostate(3)|skin(39)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	179		Renal(323;0.06)|Lung NSC(271;0.197)		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266)	Afatinib(DB08916)	ACAGTATGTTGTTCTTCAGGT	0.522										TSP Lung(8;0.080)																												uc002veg.1																			1	Substitution - Missense(1)		lung(1)	lung(21)|skin(5)|stomach(2)|breast(2)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1)	33						c.(3670-3672)AAC>AAA		v-erb-a erythroblastic leukemia viral oncogene							265.0	249.0	255.0					2																	212248595		2203	4300	6503	SO:0001583	missense	2066				cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent|transmembrane receptor protein tyrosine kinase signaling pathway	basolateral plasma membrane|cytoplasm|integral to membrane|nucleus	ATP binding|protein binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity	g.chr2:212248595G>T	L07868	CCDS2394.1, CCDS42811.1	2q33.3-q34	2013-10-11	2013-07-09		ENSG00000178568	ENSG00000178568			3432	protein-coding gene	gene with protein product		600543	"""v-erb-a avian erythroblastic leukemia viral oncogene homolog-like 4"""			7700649, 17018285	Standard	NM_001042599		Approved	ALS19	uc002veg.1	Q15303	OTTHUMG00000133012	ENST00000342788.4:c.3672C>A	2.37:g.212248595G>T	ENSP00000342235:p.Asn1224Lys	TSP Lung(8;0.080)				ERBB4_uc002veh.1_Missense_Mutation_p.N1208K|ERBB4_uc010zji.1_Missense_Mutation_p.N1214K|ERBB4_uc010zjj.1_Missense_Mutation_p.N1198K	p.N1224K	NM_005235	NP_005226	Q15303	ERBB4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266)	28	3770	-		Renal(323;0.06)|Lung NSC(271;0.197)	1224			Cytoplasmic (Potential).		B7ZLD7|B7ZLE2|B7ZLE3|Q2M1W1|Q59EW4	Missense_Mutation	SNP	ENST00000342788.4	37	c.3672C>A	CCDS2394.1	.	.	.	.	.	.	.	.	.	.	G	0.034	-1.315280	0.01331	.	.	ENSG00000178568	ENST00000342788;ENST00000436443;ENST00000402597	T;T;T	0.73897	-0.79;-0.79;-0.79	5.76	4.87	0.63330	.	0.099000	0.64402	D	0.000003	T	0.52386	0.1731	N	0.14661	0.345	0.44085	D	0.996848	B;B;B;B	0.06786	0.0;0.001;0.0;0.001	B;B;B;B	0.06405	0.001;0.002;0.001;0.002	T	0.47195	-0.9136	10	0.16420	T	0.52	.	7.7648	0.28974	0.1348:0.0:0.7256:0.1396	.	1198;1214;1208;1224	Q15303-4;Q15303-2;Q15303-3;Q15303	.;.;.;ERBB4_HUMAN	K	1224;1208;1214	ENSP00000342235:N1224K;ENSP00000403204:N1208K;ENSP00000385565:N1214K	ENSP00000342235:N1224K	N	-	3	2	ERBB4	211956840	1.000000	0.71417	0.998000	0.56505	0.673000	0.39480	1.174000	0.31932	2.880000	0.98712	0.650000	0.86243	AAC		PASS	0.522	ERBB4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256597.1	NM_001042599		48	204	48	204	---	---	---	---
ERBB4	2066	broad.mit.edu	37	2	212295689	212295689	+	Missense_Mutation	SNP	T	T	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr2:212295689T>A	ENST00000342788.4	-	21	2934	c.2624A>T	c.(2623-2625)tAc>tTc	p.Y875F	ERBB4_ENST00000436443.1_Missense_Mutation_p.Y875F|ERBB4_ENST00000402597.1_Missense_Mutation_p.Y865F	NM_005235.2	NP_005226.1	Q15303	ERBB4_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 4	875	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cardiac muscle tissue regeneration (GO:0061026)|cell fate commitment (GO:0045165)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|central nervous system morphogenesis (GO:0021551)|embryonic pattern specification (GO:0009880)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|lactation (GO:0007595)|mammary gland alveolus development (GO:0060749)|mammary gland epithelial cell differentiation (GO:0060644)|mitochondrial fragmentation involved in apoptotic process (GO:0043653)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|nervous system development (GO:0007399)|neural crest cell migration (GO:0001755)|neurotrophin TRK receptor signaling pathway (GO:0048011)|olfactory bulb interneuron differentiation (GO:0021889)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell proliferation (GO:0008284)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of STAT protein import into nucleus (GO:2000366)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|protein autophosphorylation (GO:0046777)|regulation of cell migration (GO:0030334)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	basolateral plasma membrane (GO:0016323)|cytosol (GO:0005829)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|epidermal growth factor receptor binding (GO:0005154)|protein homodimerization activity (GO:0042803)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transcription regulatory region DNA binding (GO:0044212)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)	p.Y875F(1)		NS(1)|breast(7)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(31)|lung(71)|pancreas(1)|prostate(3)|skin(39)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	179		Renal(323;0.06)|Lung NSC(271;0.197)		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266)	Afatinib(DB08916)	ATCAGCATTGTACTCTTTTTC	0.378										TSP Lung(8;0.080)																												uc002veg.1																			1	Substitution - Missense(1)		lung(1)	lung(21)|skin(5)|stomach(2)|breast(2)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1)	33						c.(2623-2625)TAC>TTC		v-erb-a erythroblastic leukemia viral oncogene							152.0	143.0	146.0					2																	212295689		2203	4300	6503	SO:0001583	missense	2066				cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent|transmembrane receptor protein tyrosine kinase signaling pathway	basolateral plasma membrane|cytoplasm|integral to membrane|nucleus	ATP binding|protein binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity	g.chr2:212295689T>A	L07868	CCDS2394.1, CCDS42811.1	2q33.3-q34	2013-10-11	2013-07-09		ENSG00000178568	ENSG00000178568			3432	protein-coding gene	gene with protein product		600543	"""v-erb-a avian erythroblastic leukemia viral oncogene homolog-like 4"""			7700649, 17018285	Standard	NM_001042599		Approved	ALS19	uc002veg.1	Q15303	OTTHUMG00000133012	ENST00000342788.4:c.2624A>T	2.37:g.212295689T>A	ENSP00000342235:p.Tyr875Phe	TSP Lung(8;0.080)				ERBB4_uc002veh.1_Missense_Mutation_p.Y875F|ERBB4_uc010zji.1_Missense_Mutation_p.Y865F|ERBB4_uc010zjj.1_Missense_Mutation_p.Y865F	p.Y875F	NM_005235	NP_005226	Q15303	ERBB4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266)	21	2722	-		Renal(323;0.06)|Lung NSC(271;0.197)	875			Protein kinase.|Cytoplasmic (Potential).		B7ZLD7|B7ZLE2|B7ZLE3|Q2M1W1|Q59EW4	Missense_Mutation	SNP	ENST00000342788.4	37	c.2624A>T	CCDS2394.1	.	.	.	.	.	.	.	.	.	.	T	15.59	2.877749	0.51801	.	.	ENSG00000178568	ENST00000342788;ENST00000436443;ENST00000402597	D;D;D	0.82619	-1.63;-1.63;-1.63	5.19	5.19	0.71726	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	0.86192	0.5874	M	0.73753	2.245	0.80722	D	1	P;P;P;P	0.47253	0.869;0.811;0.869;0.892	B;P;B;P	0.47827	0.373;0.558;0.373;0.506	D	0.88259	0.2922	10	0.72032	D	0.01	.	15.3274	0.74176	0.0:0.0:0.0:1.0	.	865;865;875;875	Q15303-4;Q15303-2;Q15303-3;Q15303	.;.;.;ERBB4_HUMAN	F	875;875;865	ENSP00000342235:Y875F;ENSP00000403204:Y875F;ENSP00000385565:Y865F	ENSP00000342235:Y875F	Y	-	2	0	ERBB4	212003934	1.000000	0.71417	0.994000	0.49952	0.051000	0.14879	7.967000	0.87967	2.073000	0.62155	0.460000	0.39030	TAC		PASS	0.378	ERBB4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256597.1	NM_001042599		33	132	33	132	---	---	---	---
ABCA12	26154	broad.mit.edu	37	2	215884167	215884167	+	Missense_Mutation	SNP	A	A	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr2:215884167A>T	ENST00000272895.7	-	13	1769	c.1550T>A	c.(1549-1551)cTa>cAa	p.L517Q	ABCA12_ENST00000389661.4_Missense_Mutation_p.L199Q|AC072062.3_ENST00000437897.3_RNA	NM_173076.2	NP_775099.2	Q86UK0	ABCAC_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 12	517					cellular homeostasis (GO:0019725)|ceramide transport (GO:0035627)|establishment of skin barrier (GO:0061436)|keratinization (GO:0031424)|lipid homeostasis (GO:0055088)|lipid transport (GO:0006869)|lung alveolus development (GO:0048286)|phospholipid efflux (GO:0033700)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of protein localization to cell surface (GO:2000010)|protein localization to plasma membrane (GO:0072659)|regulated secretory pathway (GO:0045055)|secretion by cell (GO:0032940)|surfactant homeostasis (GO:0043129)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|epidermal lamellar body (GO:0097209)|integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|plasma membrane (GO:0005886)	apolipoprotein A-I receptor binding (GO:0034191)|ATP binding (GO:0005524)|lipid transporter activity (GO:0005319)|lipid-transporting ATPase activity (GO:0034040)|receptor binding (GO:0005102)	p.L517Q(1)		NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	139		Renal(323;0.127)		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		TGCCTGTTCTAGAAACCTGGA	0.343																																					Ovarian(66;664 1488 5121 34295)	uc002vew.2																			1	Substitution - Missense(1)		lung(1)	ovary(6)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)|skin(1)|pancreas(1)	11						c.(1549-1551)CTA>CAA		ATP-binding cassette, sub-family A, member 12							80.0	79.0	80.0					2																	215884167		2203	4300	6503	SO:0001583	missense	26154				cellular homeostasis|lipid transport	integral to membrane	ATP binding|ATPase activity	g.chr2:215884167A>T	AF418105	CCDS33372.1, CCDS33373.1	2q34	2012-03-14			ENSG00000144452	ENSG00000144452		"""ATP binding cassette transporters / subfamily A"""	14637	protein-coding gene	gene with protein product		607800	"""ichthyosis congenita II, lamellar ichthyosis B"""	ICR2B		11435397, 12915478, 8845852, 10094194	Standard	NM_015657		Approved	DKFZP434G232, LI2	uc002vew.3	Q86UK0	OTTHUMG00000154801	ENST00000272895.7:c.1550T>A	2.37:g.215884167A>T	ENSP00000272895:p.Leu517Gln					ABCA12_uc002vev.2_Missense_Mutation_p.L199Q|ABCA12_uc010zjn.1_5'UTR	p.L517Q	NM_173076	NP_775099	Q86UK0	ABCAC_HUMAN		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)	13	1770	-		Renal(323;0.127)	517					Q53QE2|Q53S55|Q8IZW6|Q96JT3|Q9Y4M5	Missense_Mutation	SNP	ENST00000272895.7	37	c.1550T>A	CCDS33372.1	.	.	.	.	.	.	.	.	.	.	A	7.412	0.635030	0.14322	.	.	ENSG00000144452	ENST00000272895;ENST00000389661	T;T	0.57273	0.41;0.41	5.93	5.93	0.95920	.	0.378699	0.22473	N	0.059596	T	0.32615	0.0835	N	0.14661	0.345	0.80722	D	1	B;B	0.32245	0.361;0.314	B;B	0.26416	0.069;0.046	T	0.22138	-1.0225	10	0.40728	T	0.16	.	9.6039	0.39622	0.8058:0.0:0.0:0.1942	.	517;199	Q86UK0;Q86UK0-2	ABCAC_HUMAN;.	Q	517;199	ENSP00000272895:L517Q;ENSP00000374312:L199Q	ENSP00000272895:L517Q	L	-	2	0	ABCA12	215592412	1.000000	0.71417	0.972000	0.41901	0.515000	0.34225	3.803000	0.55560	2.263000	0.75096	0.533000	0.62120	CTA		PASS	0.343	ABCA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337111.1	NM_173076		24	111	24	111	---	---	---	---
PRKAG3	53632	broad.mit.edu	37	2	219694976	219694976	+	Missense_Mutation	SNP	C	C	A	rs529958872		TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr2:219694976C>A	ENST00000529249.1	-	4	673	c.358G>T	c.(358-360)Gac>Tac	p.D120Y	PRKAG3_ENST00000392098.3_Missense_Mutation_p.D120Y|PRKAG3_ENST00000545803.1_5'UTR|PRKAG3_ENST00000439262.2_Missense_Mutation_p.D95Y			Q9UGI9	AAKG3_HUMAN	protein kinase, AMP-activated, gamma 3 non-catalytic subunit	120					cell cycle arrest (GO:0007050)|fatty acid biosynthetic process (GO:0006633)|glucose transport (GO:0015758)|glycogen biosynthetic process (GO:0005978)|insulin receptor signaling pathway (GO:0008286)|intracellular signal transduction (GO:0035556)|membrane organization (GO:0061024)|protein phosphorylation (GO:0006468)	AMP-activated protein kinase complex (GO:0031588)|cytosol (GO:0005829)|extracellular space (GO:0005615)	AMP-activated protein kinase activity (GO:0004679)|ATP binding (GO:0005524)|protein kinase binding (GO:0019901)	p.D120Y(1)		large_intestine(7)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	20		Renal(207;0.0474)		Epithelial(149;4.35e-07)|all cancers(144;8.96e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	Acetylsalicylic acid(DB00945)	GCTGTACAGTCAGAGGGGAGG	0.637																																						uc002vjb.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|lung(1)	2						c.(358-360)GAC>TAC		AMP-activated protein kinase, non-catalytic							30.0	31.0	30.0					2																	219694976		2203	4300	6503	SO:0001583	missense	53632				cell cycle arrest|fatty acid biosynthetic process|insulin receptor signaling pathway|intracellular protein kinase cascade|regulation of fatty acid oxidation	cytosol	AMP-activated protein kinase activity|protein kinase binding	g.chr2:219694976C>A	AF214519	CCDS2424.1	2q35	2012-09-20			ENSG00000115592	ENSG00000115592			9387	protein-coding gene	gene with protein product		604976				10818001	Standard	NM_017431		Approved		uc002vjb.1	Q9UGI9	OTTHUMG00000133078	ENST00000529249.1:c.358G>T	2.37:g.219694976C>A	ENSP00000436068:p.Asp120Tyr					PRKAG3_uc010zkn.1_RNA|PRKAG3_uc010fvy.1_Missense_Mutation_p.D120Y|PRKAG3_uc010zko.1_Missense_Mutation_p.D116Y	p.D120Y	NM_017431	NP_059127	Q9UGI9	AAKG3_HUMAN		Epithelial(149;4.35e-07)|all cancers(144;8.96e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	4	377	-		Renal(207;0.0474)	120					Q4QQG8|Q4V779|Q9NRL1	Missense_Mutation	SNP	ENST00000529249.1	37	c.358G>T	CCDS2424.1	.	.	.	.	.	.	.	.	.	.	C	16.10	3.027069	0.54683	.	.	ENSG00000115592	ENST00000439262;ENST00000529249;ENST00000392098	D;D;T	0.83506	-1.71;-1.73;-0.11	5.64	2.65	0.31530	.	0.819766	0.10773	N	0.635823	D	0.82637	0.5080	L	0.29908	0.895	0.09310	N	1	D;D;D	0.71674	0.998;0.978;0.963	D;P;P	0.65443	0.935;0.847;0.707	T	0.68819	-0.5308	10	0.56958	D	0.05	-4.0846	4.748	0.13047	0.1522:0.6164:0.1469:0.0845	.	120;95;120	B4DUK8;Q9UGI9-2;Q9UGI9	.;.;AAKG3_HUMAN	Y	95;120;120	ENSP00000397133:D95Y;ENSP00000436068:D120Y;ENSP00000375947:D120Y	ENSP00000233944:D120Y	D	-	1	0	PRKAG3	219403220	0.000000	0.05858	0.005000	0.12908	0.109000	0.19521	-0.283000	0.08433	0.683000	0.31428	0.655000	0.94253	GAC		PASS	0.637	PRKAG3-006	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385992.1			14	35	14	35	---	---	---	---
CCDC108	255101	broad.mit.edu	37	2	219870807	219870807	+	Missense_Mutation	SNP	C	C	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr2:219870807C>A	ENST00000341552.5	-	31	4941	c.4858G>T	c.(4858-4860)Gcc>Tcc	p.A1620S	CCDC108_ENST00000453220.1_Missense_Mutation_p.A1620S|CCDC108_ENST00000441968.1_Missense_Mutation_p.A1620S|AC097468.4_ENST00000441450.1_RNA	NM_194302.2	NP_919278.2	Q6ZU64	CC108_HUMAN	coiled-coil domain containing 108	1620						integral component of membrane (GO:0016021)	poly(A) RNA binding (GO:0044822)|structural molecule activity (GO:0005198)	p.A1620S(1)		autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(1)|lung(34)|ovary(2)|pancreas(1)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	80		Renal(207;0.0915)		Epithelial(149;1.12e-06)|all cancers(144;0.000196)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GTGGCATGGGCTCGGGCAGTA	0.607																																						uc002vjl.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)|upper_aerodigestive_tract(1)|pancreas(1)	4						c.(4858-4860)GCC>TCC		coiled-coil domain containing 108 isoform 1							46.0	51.0	49.0					2																	219870807		2203	4300	6503	SO:0001583	missense	255101					integral to membrane	structural molecule activity	g.chr2:219870807C>A	NM_194302, AL833882, AK127189	CCDS2430.2, CCDS2431.2, CCDS63125.1, CCDS63126.1	2q35	2008-02-05			ENSG00000181378	ENSG00000181378			25325	protein-coding gene	gene with protein product		614270				12477932	Standard	NM_194302		Approved	DKFZp434O0527, MGC35338	uc002vjl.2	Q6ZU64	OTTHUMG00000133013	ENST00000341552.5:c.4858G>T	2.37:g.219870807C>A	ENSP00000340776:p.Ala1620Ser						p.A1620S	NM_194302	NP_919278	Q6ZU64	CC108_HUMAN		Epithelial(149;1.12e-06)|all cancers(144;0.000196)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	31	4942	-		Renal(207;0.0915)	1620					A2BDD8|E9PCR1|E9PG25|E9PG72|Q6ZSR8|Q8N0T4|Q8NDJ3	Missense_Mutation	SNP	ENST00000341552.5	37	c.4858G>T	CCDS2430.2	.	.	.	.	.	.	.	.	.	.	C	3.976	-0.007365	0.07773	.	.	ENSG00000181378	ENST00000341552;ENST00000441968;ENST00000453220	T;T;T	0.04360	3.64;3.64;3.64	5.56	1.32	0.21799	.	0.154798	0.30252	N	0.010046	T	0.03477	0.0100	L	0.41824	1.3	0.54753	D	0.999985	B	0.17465	0.022	B	0.18561	0.022	T	0.45556	-0.9253	10	0.16420	T	0.52	-15.5711	3.1874	0.06606	0.2605:0.4343:0.0:0.3052	.	1620	Q6ZU64	CC108_HUMAN	S	1620	ENSP00000340776:A1620S;ENSP00000413377:A1620S;ENSP00000409117:A1620S	ENSP00000340776:A1620S	A	-	1	0	CCDC108	219579051	0.056000	0.20664	0.333000	0.25482	0.472000	0.32918	0.166000	0.16583	0.264000	0.21851	0.655000	0.94253	GCC		PASS	0.607	CCDC108-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256598.4	NM_194302		9	68	9	68	---	---	---	---
PTPRN	5798	broad.mit.edu	37	2	220159714	220159714	+	Silent	SNP	G	G	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr2:220159714G>T	ENST00000295718.2	-	19	2898	c.2658C>A	c.(2656-2658)ccC>ccA	p.P886P	PTPRN_ENST00000497977.1_5'UTR|PTPRN_ENST00000409251.3_Silent_p.P857P|MIR153-1_ENST00000384914.1_RNA|PTPRN_ENST00000423636.2_Silent_p.P796P	NM_002846.3	NP_002837.1	Q16849	PTPRN_HUMAN	protein tyrosine phosphatase, receptor type, N	886	Tyrosine-protein phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00160}.				cytokine-mediated signaling pathway (GO:0019221)|peptidyl-tyrosine dephosphorylation (GO:0035335)|response to cAMP (GO:0051591)|response to estrogen (GO:0043627)|response to glucose (GO:0009749)|response to insulin (GO:0032868)|response to reactive oxygen species (GO:0000302)	integral component of plasma membrane (GO:0005887)	spectrin binding (GO:0030507)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)	p.P886P(1)		breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(3)|prostate(4)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		Renal(207;0.0474)		Epithelial(149;4.22e-07)|all cancers(144;8.82e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)|STAD - Stomach adenocarcinoma(1183;0.0875)		AGTCCAGCAGGGGCCGCGTGG	0.746																																						uc002vkz.2																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|lung(1)|skin(1)	4						c.(2656-2658)CCC>CCA		protein tyrosine phosphatase, receptor type, N							20.0	26.0	24.0					2																	220159714		2192	4294	6486	SO:0001819	synonymous_variant	5798				response to reactive oxygen species	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity	g.chr2:220159714G>T		CCDS2440.1, CCDS56167.1, CCDS56168.1	2q35-q36.1	2011-06-09			ENSG00000054356	ENSG00000054356		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"""	9676	protein-coding gene	gene with protein product		601773				8024693	Standard	NM_001199763		Approved	IA-2	uc002vkz.3	Q16849	OTTHUMG00000133129	ENST00000295718.2:c.2658C>A	2.37:g.220159714G>T						PTPRN_uc010zlc.1_Silent_p.P796P|PTPRN_uc002vla.2_Silent_p.P857P|uc010zld.1_5'Flank|MIR153-1_hsa-mir-153-1|MI0000463_5'Flank	p.P886P	NM_002846	NP_002837	Q16849	PTPRN_HUMAN		Epithelial(149;4.22e-07)|all cancers(144;8.82e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)|STAD - Stomach adenocarcinoma(1183;0.0875)	19	2747	-		Renal(207;0.0474)	886			Cytoplasmic (Potential).|Tyrosine-protein phosphatase.		B4DK12|F5GZS3|Q08319|Q53QD6|Q6NSL1	Silent	SNP	ENST00000295718.2	37	c.2658C>A	CCDS2440.1	.	.	.	.	.	.	.	.	.	.	G	11.18	1.564155	0.27915	.	.	ENSG00000054356	ENST00000443981	D	0.83673	-1.75	5.18	2.35	0.29111	.	0.000000	0.85682	D	0.000000	D	0.89203	0.6648	.	.	.	0.80722	D	1	.	.	.	.	.	.	D	0.90058	0.4154	7	0.87932	D	0	.	16.6252	0.84968	0.0:0.5702:0.4298:0.0	.	.	.	.	H	89	ENSP00000396842:P89H	ENSP00000396842:P89H	P	-	2	0	PTPRN	219867958	0.995000	0.38212	1.000000	0.80357	0.998000	0.95712	0.208000	0.17415	0.290000	0.22444	0.637000	0.83480	CCC		PASS	0.746	PTPRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256819.2			3	4	3	4	---	---	---	---
PTPRN	5798	broad.mit.edu	37	2	220161834	220161834	+	Silent	SNP	C	C	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr2:220161834C>A	ENST00000295718.2	-	15	2349	c.2109G>T	c.(2107-2109)ctG>ctT	p.L703L	PTPRN_ENST00000497977.1_5'Flank|AC114803.3_ENST00000417355.1_RNA|PTPRN_ENST00000409251.3_Silent_p.L674L|MIR153-1_ENST00000384914.1_RNA|PTPRN_ENST00000423636.2_Silent_p.L613L	NM_002846.3	NP_002837.1	Q16849	PTPRN_HUMAN	protein tyrosine phosphatase, receptor type, N	703					cytokine-mediated signaling pathway (GO:0019221)|peptidyl-tyrosine dephosphorylation (GO:0035335)|response to cAMP (GO:0051591)|response to estrogen (GO:0043627)|response to glucose (GO:0009749)|response to insulin (GO:0032868)|response to reactive oxygen species (GO:0000302)	integral component of plasma membrane (GO:0005887)	spectrin binding (GO:0030507)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)	p.L703L(1)		breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(3)|prostate(4)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		Renal(207;0.0474)		Epithelial(149;4.22e-07)|all cancers(144;8.82e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)|STAD - Stomach adenocarcinoma(1183;0.0875)		CCCGGTTCCGCAGGTGATCCT	0.632																																						uc002vkz.2																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|lung(1)|skin(1)	4						c.(2107-2109)CTG>CTT		protein tyrosine phosphatase, receptor type, N							73.0	71.0	72.0					2																	220161834		2203	4300	6503	SO:0001819	synonymous_variant	5798				response to reactive oxygen species	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity	g.chr2:220161834C>A		CCDS2440.1, CCDS56167.1, CCDS56168.1	2q35-q36.1	2011-06-09			ENSG00000054356	ENSG00000054356		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"""	9676	protein-coding gene	gene with protein product		601773				8024693	Standard	NM_001199763		Approved	IA-2	uc002vkz.3	Q16849	OTTHUMG00000133129	ENST00000295718.2:c.2109G>T	2.37:g.220161834C>A						PTPRN_uc010zlc.1_Silent_p.L613L|PTPRN_uc002vla.2_Silent_p.L674L|uc010zld.1_5'Flank|MIR153-1_hsa-mir-153-1|MI0000463_5'Flank	p.L703L	NM_002846	NP_002837	Q16849	PTPRN_HUMAN		Epithelial(149;4.22e-07)|all cancers(144;8.82e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)|STAD - Stomach adenocarcinoma(1183;0.0875)	15	2198	-		Renal(207;0.0474)	703			Cytoplasmic (Potential).		B4DK12|F5GZS3|Q08319|Q53QD6|Q6NSL1	Silent	SNP	ENST00000295718.2	37	c.2109G>T	CCDS2440.1																																																																																				PASS	0.632	PTPRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256819.2			19	20	19	20	---	---	---	---
DES	1674	broad.mit.edu	37	2	220285300	220285300	+	Silent	SNP	C	C	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr2:220285300C>A	ENST00000373960.3	+	4	905	c.819C>A	c.(817-819)gcC>gcA	p.A273A		NM_001927.3	NP_001918.3	P17661	DESM_HUMAN	desmin	273	Coil 2A.|Rod.				cytoskeleton organization (GO:0007010)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|regulation of heart contraction (GO:0008016)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|intermediate filament (GO:0005882)|neuromuscular junction (GO:0031594)|sarcolemma (GO:0042383)|Z disc (GO:0030018)	cytoskeletal protein binding (GO:0008092)|identical protein binding (GO:0042802)|structural constituent of cytoskeleton (GO:0005200)	p.A273A(1)		breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(2)|lung(10)|skin(1)	18		Renal(207;0.0183)		Epithelial(149;5.25e-07)|all cancers(144;0.000103)|Lung(261;0.00533)|LUSC - Lung squamous cell carcinoma(224;0.008)		TCACTGCCGCCCTCAGGGACA	0.587																																						uc002vll.2																			1	Substitution - coding silent(1)		lung(1)	central_nervous_system(2)	2						c.(817-819)GCC>GCA		desmin							70.0	64.0	66.0					2																	220285300		2203	4300	6503	SO:0001819	synonymous_variant	1674				cytoskeleton organization|muscle filament sliding|regulation of heart contraction	cytosol|Z disc	protein binding|structural constituent of cytoskeleton	g.chr2:220285300C>A	AF521879	CCDS33383.1	2q35	2014-09-17			ENSG00000175084	ENSG00000175084		"""Intermediate filaments type III"""	2770	protein-coding gene	gene with protein product	"""intermediate filament protein"""	125660				2673923, 9736733	Standard	NM_001927		Approved	CMD1I, CSM1, CSM2	uc002vll.3	P17661	OTTHUMG00000058924	ENST00000373960.3:c.819C>A	2.37:g.220285300C>A							p.A273A	NM_001927	NP_001918	P17661	DESM_HUMAN		Epithelial(149;5.25e-07)|all cancers(144;0.000103)|Lung(261;0.00533)|LUSC - Lung squamous cell carcinoma(224;0.008)	4	905	+		Renal(207;0.0183)	273			Rod.|Coil 2A.		Q15787|Q549R7|Q549R8|Q549R9|Q8IZR1|Q8IZR6|Q8NES2|Q8NEU6|Q8TAC4|Q8TCX2|Q8TD99|Q9UHN5|Q9UJ80	Silent	SNP	ENST00000373960.3	37	c.819C>A	CCDS33383.1																																																																																				PASS	0.587	DES-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130240.1	NM_001927		39	33	39	33	---	---	---	---
OBSL1	23363	broad.mit.edu	37	2	220422698	220422698	+	Missense_Mutation	SNP	C	C	A	rs201555617	byFrequency	TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr2:220422698C>A	ENST00000404537.1	-	11	3693	c.3637G>T	c.(3637-3639)Gtg>Ttg	p.V1213L	OBSL1_ENST00000603926.1_Missense_Mutation_p.V1213L|OBSL1_ENST00000265317.5_Missense_Mutation_p.V204L|RP11-256I23.2_ENST00000597192.1_RNA|OBSL1_ENST00000373876.1_Missense_Mutation_p.V1213L|OBSL1_ENST00000265318.4_Missense_Mutation_p.V1121L	NM_015311.2	NP_056126.1	O75147	OBSL1_HUMAN	obscurin-like 1	1213	Ig-like 10.				cardiac myofibril assembly (GO:0055003)|cytoskeleton organization (GO:0007010)|Golgi organization (GO:0007030)|microtubule cytoskeleton organization (GO:0000226)|positive regulation of dendrite morphogenesis (GO:0050775)|protein localization to Golgi apparatus (GO:0034067)|regulation of mitosis (GO:0007088)	3M complex (GO:1990393)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intercalated disc (GO:0014704)|M band (GO:0031430)|perinuclear region of cytoplasm (GO:0048471)|Z disc (GO:0030018)	cytoskeletal adaptor activity (GO:0008093)	p.V1213L(1)					Renal(207;0.0376)		Epithelial(149;2.02e-07)|all cancers(144;1.68e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00834)		CCCTCCTGCACGGGCCTCCCA	0.701																																						uc010fwk.2																			1	Substitution - Missense(1)		lung(1)		0						c.(3637-3639)GTG>TTG		obscurin-like 1							11.0	13.0	12.0					2																	220422698		1899	4091	5990	SO:0001583	missense	23363				cardiac myofibril assembly	intercalated disc|M band|perinuclear region of cytoplasm|Z disc	cytoskeletal adaptor activity	g.chr2:220422698C>A	BC007201	CCDS46520.1, CCDS54433.1, CCDS63134.1	2q35	2013-01-29			ENSG00000124006	ENSG00000124006		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	29092	protein-coding gene	gene with protein product		610991				9734811	Standard	NM_015311		Approved	KIAA0657	uc010fwk.3	O75147	OTTHUMG00000059157	ENST00000404537.1:c.3637G>T	2.37:g.220422698C>A	ENSP00000385636:p.Val1213Leu					OBSL1_uc002vmh.1_Missense_Mutation_p.V204L|OBSL1_uc010zli.1_Missense_Mutation_p.V112L|OBSL1_uc010fwl.1_Missense_Mutation_p.V688L	p.V1213L	NM_015311	NP_056126	O75147	OBSL1_HUMAN		Epithelial(149;2.02e-07)|all cancers(144;1.68e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00834)	11	3694	-		Renal(207;0.0376)	1213			Ig-like 10.		A4KVA4|A4KVA5|Q96IW3|S4R3M6	Missense_Mutation	SNP	ENST00000404537.1	37	c.3637G>T	CCDS46520.1	.	.	.	.	.	.	.	.	.	.	C	0.775	-0.764232	0.02996	.	.	ENSG00000124006	ENST00000265318;ENST00000404537;ENST00000373876;ENST00000265317	T;T;T;T	0.62105	0.05;0.05;0.05;0.05	3.76	2.85	0.33270	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.55497	0.1924	N	0.20483	0.58	0.27319	N	0.957086	P;B;D;B	0.56746	0.787;0.109;0.977;0.164	P;B;P;B	0.61940	0.781;0.124;0.896;0.171	T	0.44544	-0.9321	9	0.06494	T	0.89	.	8.076	0.30716	0.1628:0.5288:0.3084:0.0	.	112;1214;1213;204	B7Z5P5;A4KVA4;O75147;E7ER99	.;.;OBSL1_HUMAN;.	L	1121;1213;1213;204	ENSP00000265318:V1121L;ENSP00000385636:V1213L;ENSP00000362983:V1213L;ENSP00000265317:V204L	ENSP00000265317:V204L	V	-	1	0	OBSL1	220130942	0.000000	0.05858	0.586000	0.28679	0.205000	0.24178	0.384000	0.20668	0.767000	0.33267	0.313000	0.20887	GTG		PASS	0.701	OBSL1-014	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322012.1			6	18	6	18	---	---	---	---
SLC4A3	6508	broad.mit.edu	37	2	220494051	220494051	+	Missense_Mutation	SNP	G	G	C			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr2:220494051G>C	ENST00000358055.3	+	4	915	c.403G>C	c.(403-405)Gat>Cat	p.D135H	AC009955.8_ENST00000455896.1_RNA|SLC4A3_ENST00000373760.2_Missense_Mutation_p.D135H|SLC4A3_ENST00000273063.6_Missense_Mutation_p.D135H|SLC4A3_ENST00000497589.1_3'UTR|SLC4A3_ENST00000317151.3_Missense_Mutation_p.D135H|SLC4A3_ENST00000373762.3_Missense_Mutation_p.D135H			P48751	B3A3_HUMAN	solute carrier family 4 (anion exchanger), member 3	135					bicarbonate transport (GO:0015701)|ion transport (GO:0006811)|regulation of intracellular pH (GO:0051453)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	inorganic anion exchanger activity (GO:0005452)	p.D135H(1)		breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)	51		Renal(207;0.0183)		Epithelial(149;2.53e-07)|all cancers(144;5.57e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		AGCTGGAGTggatgaggaaga	0.617																																						uc002vmp.3																			1	Substitution - Missense(1)		lung(1)	ovary(2)|upper_aerodigestive_tract(1)|breast(1)|skin(1)	5						c.(403-405)GAT>CAT		solute carrier family 4, anion exchanger, member							20.0	26.0	24.0					2																	220494051		2200	4298	6498	SO:0001583	missense	6508				bicarbonate transport	integral to plasma membrane|membrane fraction	inorganic anion exchanger activity	g.chr2:220494051G>C		CCDS2445.1, CCDS2446.1	2q35	2013-07-19	2013-07-19		ENSG00000114923	ENSG00000114923		"""Solute carriers"""	11029	protein-coding gene	gene with protein product	"""Anion exchanger 3, neuronal"""	106195	"""solute carrier family 4, anion exchanger, member 3"""			8001971	Standard	NM_005070		Approved	AE3, SLC2C	uc002vmo.4	P48751	OTTHUMG00000059238	ENST00000358055.3:c.403G>C	2.37:g.220494051G>C	ENSP00000350756:p.Asp135His					SLC4A3_uc002vmn.2_Missense_Mutation_p.D135H|SLC4A3_uc002vmo.3_Missense_Mutation_p.D135H|SLC4A3_uc010fwm.2_5'UTR|SLC4A3_uc010fwn.1_5'Flank	p.D135H	NM_005070	NP_005061	P48751	B3A3_HUMAN		Epithelial(149;2.53e-07)|all cancers(144;5.57e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	4	672	+		Renal(207;0.0183)	135			Cytoplasmic.		A6H8L2|A8K1Q9|B7ZVX6|B9EGD1|Q6YIQ9	Missense_Mutation	SNP	ENST00000358055.3	37	c.403G>C	CCDS2445.1	.	.	.	.	.	.	.	.	.	.	G	14.45	2.540232	0.45176	.	.	ENSG00000114923	ENST00000358055;ENST00000373760;ENST00000273063;ENST00000373762;ENST00000317151	T;T;T;T;T	0.30448	1.53;1.53;1.53;1.53;1.53	4.8	4.8	0.61643	.	0.933680	0.09086	N	0.850626	T	0.31327	0.0793	L	0.29908	0.895	0.38704	D	0.953068	P;B	0.42039	0.769;0.384	B;B	0.42882	0.401;0.398	T	0.17289	-1.0374	10	0.45353	T	0.12	.	15.8269	0.78718	0.0:0.0:1.0:0.0	.	135;135	P48751;P48751-3	B3A3_HUMAN;.	H	135	ENSP00000350756:D135H;ENSP00000362865:D135H;ENSP00000273063:D135H;ENSP00000362867:D135H;ENSP00000314006:D135H	ENSP00000273063:D135H	D	+	1	0	SLC4A3	220202295	1.000000	0.71417	0.920000	0.36463	0.636000	0.38137	6.139000	0.71728	2.487000	0.83934	0.462000	0.41574	GAT		PASS	0.617	SLC4A3-009	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316472.1	NM_005070		19	17	19	17	---	---	---	---
SLC4A3	6508	broad.mit.edu	37	2	220500081	220500081	+	Missense_Mutation	SNP	C	C	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr2:220500081C>T	ENST00000358055.3	+	13	2347	c.1835C>T	c.(1834-1836)cCc>cTc	p.P612L	SLC4A3_ENST00000373760.2_Missense_Mutation_p.P612L|SLC4A3_ENST00000273063.6_Missense_Mutation_p.P639L|SLC4A3_ENST00000317151.3_Missense_Mutation_p.P612L|SLC4A3_ENST00000373762.3_Missense_Mutation_p.P639L			P48751	B3A3_HUMAN	solute carrier family 4 (anion exchanger), member 3	612					bicarbonate transport (GO:0015701)|ion transport (GO:0006811)|regulation of intracellular pH (GO:0051453)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	inorganic anion exchanger activity (GO:0005452)	p.P639L(1)		breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)	51		Renal(207;0.0183)		Epithelial(149;2.53e-07)|all cancers(144;5.57e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		ATTGTGATCCCCCCGTCCGAG	0.612																																						uc002vmp.3																			1	Substitution - Missense(1)		lung(1)	ovary(2)|upper_aerodigestive_tract(1)|breast(1)|skin(1)	5						c.(1834-1836)CCC>CTC		solute carrier family 4, anion exchanger, member							85.0	78.0	80.0					2																	220500081		2203	4300	6503	SO:0001583	missense	6508				bicarbonate transport	integral to plasma membrane|membrane fraction	inorganic anion exchanger activity	g.chr2:220500081C>T		CCDS2445.1, CCDS2446.1	2q35	2013-07-19	2013-07-19		ENSG00000114923	ENSG00000114923		"""Solute carriers"""	11029	protein-coding gene	gene with protein product	"""Anion exchanger 3, neuronal"""	106195	"""solute carrier family 4, anion exchanger, member 3"""			8001971	Standard	NM_005070		Approved	AE3, SLC2C	uc002vmo.4	P48751	OTTHUMG00000059238	ENST00000358055.3:c.1835C>T	2.37:g.220500081C>T	ENSP00000350756:p.Pro612Leu					SLC4A3_uc002vmo.3_Missense_Mutation_p.P639L|SLC4A3_uc010fwm.2_Missense_Mutation_p.P162L|SLC4A3_uc010fwn.1_Missense_Mutation_p.P121L	p.P612L	NM_005070	NP_005061	P48751	B3A3_HUMAN		Epithelial(149;2.53e-07)|all cancers(144;5.57e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	13	2104	+		Renal(207;0.0183)	612			Cytoplasmic.		A6H8L2|A8K1Q9|B7ZVX6|B9EGD1|Q6YIQ9	Missense_Mutation	SNP	ENST00000358055.3	37	c.1835C>T	CCDS2445.1	.	.	.	.	.	.	.	.	.	.	C	31	5.060514	0.93846	.	.	ENSG00000114923	ENST00000358055;ENST00000373760;ENST00000273063;ENST00000373762;ENST00000317151	D;D;D;D;D	0.90676	-2.71;-2.71;-2.71;-2.71;-2.71	4.91	4.91	0.64330	Bicarbonate transporter, cytoplasmic (2);Phosphotransferase/anion transporter (1);	0.058717	0.64402	D	0.000001	D	0.97018	0.9026	H	0.96460	3.825	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.996	D	0.98525	1.0625	10	0.87932	D	0	.	18.1162	0.89556	0.0:1.0:0.0:0.0	.	316;612;639	P48751-2;P48751;P48751-3	.;B3A3_HUMAN;.	L	612;612;639;639;612	ENSP00000350756:P612L;ENSP00000362865:P612L;ENSP00000273063:P639L;ENSP00000362867:P639L;ENSP00000314006:P612L	ENSP00000273063:P639L	P	+	2	0	SLC4A3	220208325	1.000000	0.71417	0.963000	0.40424	0.861000	0.49209	7.704000	0.84595	2.260000	0.74910	0.637000	0.83480	CCC		PASS	0.612	SLC4A3-009	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316472.1	NM_005070		28	66	28	66	---	---	---	---
SPHKAP	80309	broad.mit.edu	37	2	228860331	228860331	+	Missense_Mutation	SNP	G	G	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr2:228860331G>T	ENST00000392056.3	-	8	4574	c.4528C>A	c.(4528-4530)Cca>Aca	p.P1510T	SPHKAP_ENST00000344657.5_Missense_Mutation_p.P1510T	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN	SPHK1 interactor, AKAP domain containing	1510						extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|Z disc (GO:0030018)	protein kinase A binding (GO:0051018)	p.P1510T(2)		NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		CTGCTGCTTGGAGGGTTGGGG	0.557																																						uc002vpq.2																			2	Substitution - Missense(2)		lung(2)	skin(5)|ovary(4)|lung(1)	10						c.(4528-4530)CCA>ACA		sphingosine kinase type 1-interacting protein							98.0	89.0	92.0					2																	228860331		2203	4300	6503	SO:0001583	missense	80309					cytoplasm	protein binding	g.chr2:228860331G>T		CCDS33389.1, CCDS46537.1	2q36.3	2010-08-20			ENSG00000153820	ENSG00000153820		"""A-kinase anchor proteins"""	30619	protein-coding gene	gene with protein product	"""sphingosine kinase type 1-interacting protein"""	611646				12080051, 11214970	Standard	NM_030623		Approved	SKIP	uc002vpq.2	Q2M3C7	OTTHUMG00000153584	ENST00000392056.3:c.4528C>A	2.37:g.228860331G>T	ENSP00000375909:p.Pro1510Thr					SPHKAP_uc002vpp.2_Missense_Mutation_p.P1510T|SPHKAP_uc010zlx.1_Intron	p.P1510T	NM_001142644	NP_001136116	Q2M3C7	SPKAP_HUMAN		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)	8	4575	-		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)	1510					Q68DA3|Q68DR8|Q9C0I5	Missense_Mutation	SNP	ENST00000392056.3	37	c.4528C>A	CCDS46537.1	.	.	.	.	.	.	.	.	.	.	G	8.771	0.925901	0.18056	.	.	ENSG00000153820	ENST00000392056;ENST00000344657	T;T	0.11277	2.79;2.79	5.9	4.11	0.48088	.	0.396009	0.28442	N	0.015323	T	0.10035	0.0246	M	0.63428	1.95	0.27732	N	0.944778	P;P	0.35077	0.483;0.478	B;B	0.33960	0.122;0.173	T	0.16778	-1.0391	10	0.08599	T	0.76	.	7.5844	0.27985	0.1442:0.1354:0.7204:0.0	.	1510;1510	Q2M3C7;Q2M3C7-2	SPKAP_HUMAN;.	T	1510	ENSP00000375909:P1510T;ENSP00000339886:P1510T	ENSP00000339886:P1510T	P	-	1	0	SPHKAP	228568575	1.000000	0.71417	0.996000	0.52242	0.972000	0.66771	2.367000	0.44213	0.838000	0.34948	0.655000	0.94253	CCA		PASS	0.557	SPHKAP-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000331750.1	NM_030623		25	95	25	95	---	---	---	---
SPHKAP	80309	broad.mit.edu	37	2	228882714	228882714	+	Silent	SNP	G	G	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr2:228882714G>T	ENST00000392056.3	-	7	2902	c.2856C>A	c.(2854-2856)tcC>tcA	p.S952S	SPHKAP_ENST00000344657.5_Silent_p.S952S	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN	SPHK1 interactor, AKAP domain containing	952						extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|Z disc (GO:0030018)	protein kinase A binding (GO:0051018)	p.S952S(2)		NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		GTTTTCCACTGGAGTTGTCAA	0.483																																						uc002vpq.2																			2	Substitution - coding silent(2)		lung(2)	skin(5)|ovary(4)|lung(1)	10						c.(2854-2856)TCC>TCA		sphingosine kinase type 1-interacting protein							128.0	116.0	121.0					2																	228882714		2203	4300	6503	SO:0001819	synonymous_variant	80309					cytoplasm	protein binding	g.chr2:228882714G>T		CCDS33389.1, CCDS46537.1	2q36.3	2010-08-20			ENSG00000153820	ENSG00000153820		"""A-kinase anchor proteins"""	30619	protein-coding gene	gene with protein product	"""sphingosine kinase type 1-interacting protein"""	611646				12080051, 11214970	Standard	NM_030623		Approved	SKIP	uc002vpq.2	Q2M3C7	OTTHUMG00000153584	ENST00000392056.3:c.2856C>A	2.37:g.228882714G>T						SPHKAP_uc002vpp.2_Silent_p.S952S|SPHKAP_uc010zlx.1_Silent_p.S952S	p.S952S	NM_001142644	NP_001136116	Q2M3C7	SPKAP_HUMAN		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)	7	2903	-		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)	952					Q68DA3|Q68DR8|Q9C0I5	Silent	SNP	ENST00000392056.3	37	c.2856C>A	CCDS46537.1																																																																																				PASS	0.483	SPHKAP-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000331750.1	NM_030623		48	148	48	148	---	---	---	---
SPHKAP	80309	broad.mit.edu	37	2	228883481	228883481	+	Missense_Mutation	SNP	G	G	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr2:228883481G>A	ENST00000392056.3	-	7	2135	c.2089C>T	c.(2089-2091)Cat>Tat	p.H697Y	SPHKAP_ENST00000344657.5_Missense_Mutation_p.H697Y	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN	SPHK1 interactor, AKAP domain containing	697						extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|Z disc (GO:0030018)	protein kinase A binding (GO:0051018)	p.H697Y(2)		NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		TCAGATGAATGCCTGTTGTCA	0.398																																						uc002vpq.2																			2	Substitution - Missense(2)		lung(2)	skin(5)|ovary(4)|lung(1)	10						c.(2089-2091)CAT>TAT		sphingosine kinase type 1-interacting protein							245.0	221.0	229.0					2																	228883481		2203	4300	6503	SO:0001583	missense	80309					cytoplasm	protein binding	g.chr2:228883481G>A		CCDS33389.1, CCDS46537.1	2q36.3	2010-08-20			ENSG00000153820	ENSG00000153820		"""A-kinase anchor proteins"""	30619	protein-coding gene	gene with protein product	"""sphingosine kinase type 1-interacting protein"""	611646				12080051, 11214970	Standard	NM_030623		Approved	SKIP	uc002vpq.2	Q2M3C7	OTTHUMG00000153584	ENST00000392056.3:c.2089C>T	2.37:g.228883481G>A	ENSP00000375909:p.His697Tyr					SPHKAP_uc002vpp.2_Missense_Mutation_p.H697Y|SPHKAP_uc010zlx.1_Missense_Mutation_p.H697Y	p.H697Y	NM_001142644	NP_001136116	Q2M3C7	SPKAP_HUMAN		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)	7	2136	-		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)	697					Q68DA3|Q68DR8|Q9C0I5	Missense_Mutation	SNP	ENST00000392056.3	37	c.2089C>T	CCDS46537.1	.	.	.	.	.	.	.	.	.	.	G	0.010	-1.770498	0.00645	.	.	ENSG00000153820	ENST00000392056;ENST00000344657	T;T	0.49432	0.78;0.78	5.62	0.0262	0.14149	.	1.414010	0.03925	N	0.284246	T	0.40522	0.1120	L	0.55481	1.735	0.09310	N	1	P;P	0.50443	0.75;0.935	B;B	0.43508	0.171;0.422	T	0.33214	-0.9877	10	0.02654	T	1	.	7.6513	0.28350	0.0781:0.5763:0.2415:0.1041	.	697;697	Q2M3C7;Q2M3C7-2	SPKAP_HUMAN;.	Y	697	ENSP00000375909:H697Y;ENSP00000339886:H697Y	ENSP00000339886:H697Y	H	-	1	0	SPHKAP	228591725	0.000000	0.05858	0.000000	0.03702	0.068000	0.16541	0.039000	0.13884	0.307000	0.22880	0.655000	0.94253	CAT		PASS	0.398	SPHKAP-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000331750.1	NM_030623		63	264	63	264	---	---	---	---
DNER	92737	broad.mit.edu	37	2	230223351	230223351	+	Missense_Mutation	SNP	G	G	A	rs201404779		TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr2:230223351G>A	ENST00000341772.4	-	13	2253	c.2119C>T	c.(2119-2121)Cgg>Tgg	p.R707W		NM_139072.3	NP_620711.3	Q8NFT8	DNER_HUMAN	delta/notch-like EGF repeat containing	707					central nervous system development (GO:0007417)|endocytosis (GO:0006897)|glial cell differentiation (GO:0010001)|neuron migration (GO:0001764)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|skeletal muscle fiber development (GO:0048741)|synapse assembly (GO:0007416)	dendrite (GO:0030425)|early endosome (GO:0005769)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|clathrin binding (GO:0030276)|transmembrane signaling receptor activity (GO:0004888)	p.R707W(1)		NS(2)|breast(1)|endometrium(7)|kidney(1)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	63		all_lung(227;0.00413)|Renal(207;0.0113)|Lung NSC(271;0.0211)|all_hematologic(139;0.105)|Acute lymphoblastic leukemia(138;0.175)		Epithelial(121;1.4e-11)|all cancers(144;7.7e-09)|LUSC - Lung squamous cell carcinoma(224;0.034)|Lung(119;0.0375)		ATTGCAGGCCGGGATTTCTTT	0.363													G|||	1	0.000199681	0.0	0.0	5008	,	,		14250	0.001		0.0	False		,,,				2504	0.0					uc002vpv.2																			1	Substitution - Missense(1)		lung(1)	lung(5)|ovary(2)|skin(1)	8						c.(2119-2121)CGG>TGG		delta-notch-like EGF repeat-containing							77.0	78.0	77.0					2																	230223351		2203	4300	6503	SO:0001583	missense	92737				central nervous system development|endocytosis|neuron migration|Notch signaling pathway|synapse assembly	dendrite|early endosome|integral to membrane|plasma membrane	calcium ion binding|clathrin binding|transmembrane receptor activity	g.chr2:230223351G>A	AY358891	CCDS33390.1	2q36.3	2006-10-26			ENSG00000187957	ENSG00000187957			24456	protein-coding gene	gene with protein product		607299				11950833, 11997712	Standard	NM_139072		Approved	UNQ26, bet	uc002vpv.3	Q8NFT8	OTTHUMG00000153637	ENST00000341772.4:c.2119C>T	2.37:g.230223351G>A	ENSP00000345229:p.Arg707Trp						p.R707W	NM_139072	NP_620711	Q8NFT8	DNER_HUMAN		Epithelial(121;1.4e-11)|all cancers(144;7.7e-09)|LUSC - Lung squamous cell carcinoma(224;0.034)|Lung(119;0.0375)	13	2266	-		all_lung(227;0.00413)|Renal(207;0.0113)|Lung NSC(271;0.0211)|all_hematologic(139;0.105)|Acute lymphoblastic leukemia(138;0.175)	707			Cytoplasmic (Potential).		A6NP39|Q53R88|Q53TP7|Q53TQ5|Q8IYT0|Q8TB42|Q9NTF1|Q9UDM2	Missense_Mutation	SNP	ENST00000341772.4	37	c.2119C>T	CCDS33390.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	18.68	3.674901	0.67928	.	.	ENSG00000187957	ENST00000341772;ENST00000543700	D	0.87412	-2.25	6.05	6.05	0.98169	.	0.000000	0.85682	D	0.000000	D	0.89774	0.6812	N	0.19112	0.55	0.58432	D	0.999999	D	0.89917	1.0	D	0.87578	0.998	D	0.90636	0.4571	10	0.72032	D	0.01	.	20.6013	0.99457	0.0:0.0:1.0:0.0	.	707	Q8NFT8	DNER_HUMAN	W	707;425	ENSP00000345229:R707W	ENSP00000345229:R707W	R	-	1	2	DNER	229931595	1.000000	0.71417	1.000000	0.80357	0.947000	0.59692	2.708000	0.47152	2.878000	0.98634	0.650000	0.86243	CGG		PASS	0.363	DNER-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331902.1	NM_139072		20	87	20	87	---	---	---	---
ALPI	248	broad.mit.edu	37	2	233323623	233323623	+	Nonsense_Mutation	SNP	G	G	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr2:233323623G>T	ENST00000295463.3	+	11	1431	c.1354G>T	c.(1354-1356)Gga>Tga	p.G452*		NM_001631.3	NP_001622.2	P09923	PPBI_HUMAN	alkaline phosphatase, intestinal	452					dephosphorylation (GO:0016311)	anchored component of membrane (GO:0031225)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alkaline phosphatase activity (GO:0004035)|magnesium ion binding (GO:0000287)|protease binding (GO:0002020)|zinc ion binding (GO:0008270)	p.G452*(1)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(10)|prostate(2)|upper_aerodigestive_tract(1)	24		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;1.64e-16)|Kidney(3;9.71e-08)|KIRC - Kidney renal clear cell carcinoma(3;2.74e-06)|BRCA - Breast invasive adenocarcinoma(100;0.000763)|Lung(119;0.00564)|LUSC - Lung squamous cell carcinoma(224;0.00746)		CGAGACCCACGGAGGCGAAGA	0.692																																						uc002vst.3																			1	Substitution - Nonsense(1)		lung(1)	central_nervous_system(1)	1						c.(1354-1356)GGA>TGA		intestinal alkaline phosphatase precursor							20.0	23.0	22.0					2																	233323623		2193	4296	6489	SO:0001587	stop_gained	248				phosphorylation	anchored to membrane|integral to membrane|plasma membrane	alkaline phosphatase activity|metal ion binding|protein binding	g.chr2:233323623G>T	M15694	CCDS2492.1	2q37.1	2008-02-05			ENSG00000163295	ENSG00000163295	3.1.3.1		437	protein-coding gene	gene with protein product		171740				3468508, 3469665	Standard	NM_001631		Approved		uc002vst.4	P09923	OTTHUMG00000133258	ENST00000295463.3:c.1354G>T	2.37:g.233323623G>T	ENSP00000295463:p.Gly452*					ALPI_uc002vsu.3_Nonsense_Mutation_p.G363*	p.G452*	NM_001631	NP_001622	P09923	PPBI_HUMAN		Epithelial(121;1.64e-16)|Kidney(3;9.71e-08)|KIRC - Kidney renal clear cell carcinoma(3;2.74e-06)|BRCA - Breast invasive adenocarcinoma(100;0.000763)|Lung(119;0.00564)|LUSC - Lung squamous cell carcinoma(224;0.00746)	11	1431	+		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)	452					B2R7Y4|Q53S80|Q9UBV5|Q9UCL2	Nonsense_Mutation	SNP	ENST00000295463.3	37	c.1354G>T	CCDS2492.1	.	.	.	.	.	.	.	.	.	.	G	21.7	4.192280	0.78902	.	.	ENSG00000163295	ENST00000295463	.	.	.	5.15	5.15	0.70609	.	0.056142	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	13.97	0.64233	0.0753:0.0:0.9246:0.0	.	.	.	.	X	452	.	ENSP00000295463:G452X	G	+	1	0	ALPI	233031867	1.000000	0.71417	0.128000	0.21923	0.003000	0.03518	4.399000	0.59703	2.383000	0.81215	0.655000	0.94253	GGA		PASS	0.692	ALPI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257035.2	NM_001631		7	16	7	16	---	---	---	---
CHRND	1144	broad.mit.edu	37	2	233396137	233396137	+	Missense_Mutation	SNP	T	T	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr2:233396137T>A	ENST00000258385.3	+	8	928	c.896T>A	c.(895-897)cTg>cAg	p.L299Q	CHRND_ENST00000543200.1_Missense_Mutation_p.L284Q|CHRND_ENST00000457943.2_Missense_Mutation_p.L105Q|CHRND_ENST00000536614.1_3'UTR	NM_000751.2	NP_000742.1	Q07001	ACHD_HUMAN	cholinergic receptor, nicotinic, delta (muscle)	299					cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|muscle contraction (GO:0006936)|musculoskeletal movement (GO:0050881)|neuromuscular process (GO:0050905)|regulation of membrane potential (GO:0042391)|signal transduction (GO:0007165)|skeletal muscle tissue growth (GO:0048630)|synaptic transmission (GO:0007268)|transport (GO:0006810)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	acetylcholine binding (GO:0042166)|acetylcholine-activated cation-selective channel activity (GO:0004889)	p.L299Q(1)		breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(17)|ovary(3)|prostate(1)|skin(1)|stomach(1)	34		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;1.89e-16)|BRCA - Breast invasive adenocarcinoma(100;0.00078)|Lung(119;0.00579)|LUSC - Lung squamous cell carcinoma(224;0.00754)	Galantamine(DB00674)	TCCAAGCGTCTGCCTGCCACA	0.607																																						uc002vsw.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|breast(1)|skin(1)	3						c.(895-897)CTG>CAG		nicotinic acetylcholine receptor delta							115.0	98.0	104.0					2																	233396137		2203	4300	6503	SO:0001583	missense	1144				muscle contraction|musculoskeletal movement|neuromuscular process|skeletal muscle tissue growth|synaptic transmission	cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	nicotinic acetylcholine-activated cation-selective channel activity|receptor activity	g.chr2:233396137T>A	X55019	CCDS2494.1, CCDS58754.1	2q37.1	2012-02-11	2012-02-07		ENSG00000135902	ENSG00000135902		"""Cholinergic receptors"", ""Ligand-gated ion channels / Acetylcholine receptors, nicotinic"""	1965	protein-coding gene	gene with protein product	"""acetylcholine receptor, nicotinic, delta (muscle)"""	100720	"""cholinergic receptor, nicotinic, delta"""	ACHRD			Standard	NM_000751		Approved		uc002vsw.4	Q07001	OTTHUMG00000133261	ENST00000258385.3:c.896T>A	2.37:g.233396137T>A	ENSP00000258385:p.Leu299Gln					CHRND_uc010zmg.1_Missense_Mutation_p.L284Q|CHRND_uc010fyc.2_Missense_Mutation_p.L172Q|CHRND_uc010zmh.1_Missense_Mutation_p.L105Q	p.L299Q	NM_000751	NP_000742	Q07001	ACHD_HUMAN		Epithelial(121;1.89e-16)|BRCA - Breast invasive adenocarcinoma(100;0.00078)|Lung(119;0.00579)|LUSC - Lung squamous cell carcinoma(224;0.00754)	8	900	+		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)	299			Helical; (Potential).		A8K661|B4DT92|Q52LH4	Missense_Mutation	SNP	ENST00000258385.3	37	c.896T>A	CCDS2494.1	.	.	.	.	.	.	.	.	.	.	T	22.9	4.354616	0.82243	.	.	ENSG00000135902	ENST00000543200;ENST00000258385;ENST00000457943	D;D;D	0.89939	-2.59;-2.59;-2.59	6.08	6.08	0.98989	Neurotransmitter-gated ion-channel transmembrane domain (2);	0.000000	0.64402	D	0.000001	D	0.95890	0.8662	M	0.92412	3.305	0.58432	D	0.999996	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	0.96698	0.9516	10	0.87932	D	0	.	16.6438	0.85155	0.0:0.0:0.0:1.0	.	105;284;299;299	B4E3W4;B4DT92;A8K661;Q07001	.;.;.;ACHD_HUMAN	Q	284;299;105	ENSP00000438380:L284Q;ENSP00000258385:L299Q;ENSP00000391055:L105Q	ENSP00000258385:L299Q	L	+	2	0	CHRND	233104381	1.000000	0.71417	1.000000	0.80357	0.784000	0.44337	6.239000	0.72356	2.333000	0.79357	0.533000	0.62120	CTG		PASS	0.607	CHRND-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257038.2			33	55	33	55	---	---	---	---
IQCA1	79781	broad.mit.edu	37	2	237272468	237272468	+	Nonsense_Mutation	SNP	G	G	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr2:237272468G>T	ENST00000409907.3	-	15	2098	c.1824C>A	c.(1822-1824)taC>taA	p.Y608*	IQCA1_ENST00000309507.5_Nonsense_Mutation_p.Y605*|IQCA1_ENST00000431676.2_Nonsense_Mutation_p.Y567*	NM_024726.4	NP_079002.3	Q86XH1	IQCA1_HUMAN	IQ motif containing with AAA domain 1	608							ATP binding (GO:0005524)	p.Y608*(1)|p.Y616*(1)		cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(12)|ovary(1)	26						TTTTGCCAGGGTATTTCCCAG	0.473																																						uc002vvz.1																			2	Substitution - Nonsense(2)		lung(2)	ovary(1)	1						c.(1822-1824)TAC>TAA		IQ motif containing with AAA domain 1							172.0	169.0	170.0					2																	237272468		1979	4167	6146	SO:0001587	stop_gained	79781						ATP binding	g.chr2:237272468G>T	AK026180	CCDS46549.1, CCDS59441.1, CCDS74677.1	2q37.3	2014-07-18	2008-07-02	2008-07-02	ENSG00000132321	ENSG00000132321		"""ATPases / AAA-type"""	26195	protein-coding gene	gene with protein product	"""dynein regulatory complex subunit 11"""		"""IQ motif containing with AAA domain"""	IQCA		23427265	Standard	NM_024726		Approved	FLJ22527, DRC11	uc002vwb.3	Q86XH1	OTTHUMG00000153058	ENST00000409907.3:c.1824C>A	2.37:g.237272468G>T	ENSP00000387347:p.Tyr608*					IQCA1_uc002vwb.2_Nonsense_Mutation_p.Y616*|IQCA1_uc002vwa.1_RNA|IQCA1_uc010zni.1_Nonsense_Mutation_p.Y567*	p.Y608*	NM_024726	NP_079002	Q86XH1	IQCA1_HUMAN			15	2006	-			608					B4DFH9|E7EWQ0|Q4G164|Q53R37|Q53RV3|Q96NS7|Q9H680	Nonsense_Mutation	SNP	ENST00000409907.3	37	c.1824C>A	CCDS46549.1	.	.	.	.	.	.	.	.	.	.	G	39	7.565533	0.98361	.	.	ENSG00000132321	ENST00000409907;ENST00000457693;ENST00000309507;ENST00000431676;ENST00000412437	.	.	.	4.36	3.47	0.39725	.	0.000000	0.53938	D	0.000043	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	10.611	0.45421	0.1634:0.0:0.8366:0.0	.	.	.	.	X	608;616;605;567;605	.	ENSP00000254653:Y609X	Y	-	3	2	IQCA1	236937207	1.000000	0.71417	0.997000	0.53966	0.641000	0.38312	3.278000	0.51662	0.945000	0.37605	0.561000	0.74099	TAC		PASS	0.473	IQCA1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000329266.1	NM_024726		84	79	84	79	---	---	---	---
COL6A3	1293	broad.mit.edu	37	2	238243328	238243328	+	Missense_Mutation	SNP	G	G	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr2:238243328G>A	ENST00000295550.4	-	41	9622	c.9170C>T	c.(9169-9171)gCt>gTt	p.A3057V	COL6A3_ENST00000347401.3_Missense_Mutation_p.A2856V|COL6A3_ENST00000346358.4_Missense_Mutation_p.A2857V|COL6A3_ENST00000472056.1_Missense_Mutation_p.A2450V|COL6A3_ENST00000409809.1_Missense_Mutation_p.A2851V|COL6A3_ENST00000353578.4_Missense_Mutation_p.A2851V	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	3057	Fibronectin type-III. {ECO:0000255|PROSITE-ProRule:PRU00316}.|Nonhelical region.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|muscle organ development (GO:0007517)|response to glucose (GO:0009749)	collagen type VI trimer (GO:0005589)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)|sarcolemma (GO:0042383)|vesicle (GO:0031982)	serine-type endopeptidase inhibitor activity (GO:0004867)	p.A3057V(1)		breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		GCAGACCACAGCCACATGGTA	0.537																																						uc002vwl.2																			1	Substitution - Missense(1)		lung(1)	ovary(8)|central_nervous_system(6)|skin(2)|upper_aerodigestive_tract(1)|pancreas(1)	18						c.(9169-9171)GCT>GTT		alpha 3 type VI collagen isoform 1 precursor							70.0	60.0	64.0					2																	238243328		2203	4300	6503	SO:0001583	missense	1293				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity	g.chr2:238243328G>A	X52022	CCDS33409.1, CCDS33410.1, CCDS33411.1, CCDS33412.1, CCDS33410.2, CCDS33411.2, CCDS54439.1	2q37	2014-09-17			ENSG00000163359	ENSG00000163359		"""Collagens"""	2213	protein-coding gene	gene with protein product		120250				1339440, 11992252	Standard	NM_004369		Approved		uc002vwl.2	P12111	OTTHUMG00000150020	ENST00000295550.4:c.9170C>T	2.37:g.238243328G>A	ENSP00000295550:p.Ala3057Val					COL6A3_uc002vwo.2_Missense_Mutation_p.A2851V|COL6A3_uc010znj.1_Missense_Mutation_p.A2450V|COL6A3_uc002vwj.2_Missense_Mutation_p.A438V	p.A3057V	NM_004369	NP_004360	P12111	CO6A3_HUMAN		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)	41	9455	-		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)	3057			Fibronectin type-III.|Nonhelical region.		A8MT30|B4E3U5|B7ZMJ7|E9PFQ6|E9PGQ9|Q16501|Q53QF4|Q53QF6	Missense_Mutation	SNP	ENST00000295550.4	37	c.9170C>T	CCDS33412.1	.	.	.	.	.	.	.	.	.	.	G	3.672	-0.067254	0.07273	.	.	ENSG00000163359	ENST00000295550;ENST00000347401;ENST00000353578;ENST00000472056;ENST00000409809;ENST00000346358	T;T;T;T;T;T	0.28895	1.59;1.59;1.59;1.59;1.59;1.59	4.92	-0.717	0.11208	Fibronectin, type III (3);Immunoglobulin-like fold (1);	1.634570	0.03698	N	0.248148	T	0.16428	0.0395	N	0.05441	-0.05	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.0;0.001;0.0	T	0.22661	-1.0210	10	0.13853	T	0.58	.	10.0417	0.42162	0.6359:0.0:0.3641:0.0	.	2450;2851;3057	E9PFQ6;P12111-2;P12111	.;.;CO6A3_HUMAN	V	3057;2856;2851;2450;2851;2857	ENSP00000295550:A3057V;ENSP00000315609:A2856V;ENSP00000315873:A2851V;ENSP00000418285:A2450V;ENSP00000386844:A2851V;ENSP00000295546:A2857V	ENSP00000295550:A3057V	A	-	2	0	COL6A3	237908067	0.000000	0.05858	0.000000	0.03702	0.018000	0.09664	-0.303000	0.08210	-0.114000	0.11936	-0.262000	0.10625	GCT		PASS	0.537	COL6A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315790.2	NM_004369		24	50	24	50	---	---	---	---
HDAC4	9759	broad.mit.edu	37	2	239990258	239990258	+	Silent	SNP	C	C	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr2:239990258C>A	ENST00000345617.3	-	23	3572	c.2781G>T	c.(2779-2781)gtG>gtT	p.V927V	AC017028.3_ENST00000584260.1_RNA|HDAC4_ENST00000543185.1_Silent_p.V511V|AC017028.6_ENST00000577291.1_RNA|AC017028.2_ENST00000578555.1_RNA|AC017028.5_ENST00000582834.1_RNA|MIR4440_ENST00000583986.1_RNA|AC017028.4_ENST00000577359.1_RNA|AC017028.10_ENST00000579161.1_RNA|AC017028.9_ENST00000581111.1_RNA	NM_006037.3	NP_006028.2	P56524	HDAC4_HUMAN	histone deacetylase 4	927	Histone deacetylase.				B cell activation (GO:0042113)|B cell differentiation (GO:0030183)|cardiac muscle hypertrophy in response to stress (GO:0014898)|chromatin remodeling (GO:0006338)|histone deacetylation (GO:0016575)|histone H3 deacetylation (GO:0070932)|histone H4 deacetylation (GO:0070933)|inflammatory response (GO:0006954)|negative regulation of cell proliferation (GO:0008285)|negative regulation of glycolytic process (GO:0045820)|negative regulation of myotube differentiation (GO:0010832)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nervous system development (GO:0007399)|osteoblast development (GO:0002076)|peptidyl-lysine deacetylation (GO:0034983)|positive regulation of cell proliferation (GO:0008284)|positive regulation of protein sumoylation (GO:0033235)|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 transcription, DNA-templated (GO:0045893)|regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)|regulation of gene expression, epigenetic (GO:0040029)|regulation of protein binding (GO:0043393)|regulation of skeletal muscle fiber development (GO:0048742)|response to denervation involved in regulation of muscle adaptation (GO:0014894)|response to drug (GO:0042493)|response to interleukin-1 (GO:0070555)|skeletal system development (GO:0001501)|transcription, DNA-templated (GO:0006351)	A band (GO:0031672)|actomyosin (GO:0042641)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|histone deacetylase complex (GO:0000118)|neuromuscular junction (GO:0031594)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)|Z disc (GO:0030018)	activating transcription factor binding (GO:0033613)|core promoter binding (GO:0001047)|histone deacetylase activity (GO:0004407)|histone deacetylase binding (GO:0042826)|NAD-dependent histone deacetylase activity (H3-K14 specific) (GO:0032041)|NAD-dependent histone deacetylase activity (H3-K18 specific) (GO:0097372)|NAD-dependent histone deacetylase activity (H3-K9 specific) (GO:0046969)|NAD-dependent histone deacetylase activity (H4-K16 specific) (GO:0046970)|potassium ion binding (GO:0030955)|protein deacetylase activity (GO:0033558)|repressing transcription factor binding (GO:0070491)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)	p.V927V(1)		NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|kidney(2)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(5)	62		all_epithelial(40;1.45e-17)|Breast(86;1.53e-05)|Renal(207;0.000355)|all_lung(227;0.0121)|Ovarian(221;0.0183)|Lung NSC(271;0.0413)|Melanoma(123;0.0749)|all_hematologic(139;0.159)		Epithelial(121;6.38e-25)|OV - Ovarian serous cystadenocarcinoma(60;2.48e-12)|Kidney(56;6.04e-08)|KIRC - Kidney renal clear cell carcinoma(57;1.18e-06)|BRCA - Breast invasive adenocarcinoma(100;3.99e-05)|Lung(119;0.00942)|LUSC - Lung squamous cell carcinoma(224;0.04)		ATGACACCAGCACCACATCCG	0.597																																						uc002vyk.3																			1	Substitution - coding silent(1)		lung(1)	breast(3)|skin(2)|ovary(1)	6						c.(2779-2781)GTG>GTT		histone deacetylase 4							100.0	95.0	96.0					2																	239990258		2203	4300	6503	SO:0001819	synonymous_variant	9759				B cell differentiation|cardiac muscle hypertrophy in response to stress|chromatin remodeling|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of glycolysis|negative regulation of myotube differentiation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|nervous system development|peptidyl-lysine deacetylation|positive regulation of cell proliferation|positive regulation of protein sumoylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of protein binding|response to denervation involved in regulation of muscle adaptation|response to interleukin-1|transcription, DNA-dependent	histone deacetylase complex|transcriptional repressor complex	activating transcription factor binding|histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|potassium ion binding|repressing transcription factor binding|zinc ion binding	g.chr2:239990258C>A	AB006626	CCDS2529.1	2q37.3	2014-02-12			ENSG00000068024	ENSG00000068024			14063	protein-coding gene	gene with protein product		605314	"""brachydactyly-mental retardation syndrome"""	BDMR		10206986, 10220385, 20691407	Standard	NM_006037		Approved	KIAA0288, HDAC-A, HDACA, HD4, HA6116, HDAC-4	uc002vyk.4	P56524	OTTHUMG00000133344	ENST00000345617.3:c.2781G>T	2.37:g.239990258C>A						HDAC4_uc010fyy.2_Silent_p.V884V	p.V927V	NM_006037	NP_006028	P56524	HDAC4_HUMAN		Epithelial(121;6.38e-25)|OV - Ovarian serous cystadenocarcinoma(60;2.48e-12)|Kidney(56;6.04e-08)|KIRC - Kidney renal clear cell carcinoma(57;1.18e-06)|BRCA - Breast invasive adenocarcinoma(100;3.99e-05)|Lung(119;0.00942)|LUSC - Lung squamous cell carcinoma(224;0.04)	23	3573	-		all_epithelial(40;1.45e-17)|Breast(86;1.53e-05)|Renal(207;0.000355)|all_lung(227;0.0121)|Ovarian(221;0.0183)|Lung NSC(271;0.0413)|Melanoma(123;0.0749)|all_hematologic(139;0.159)	927			Histone deacetylase.		Q9UND6	Silent	SNP	ENST00000345617.3	37	c.2781G>T	CCDS2529.1																																																																																				PASS	0.597	HDAC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257174.2	NM_006037		30	59	30	59	---	---	---	---
ANKMY1	51281	broad.mit.edu	37	2	241468696	241468696	+	Missense_Mutation	SNP	C	C	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr2:241468696C>A	ENST00000272972.3	-	4	658	c.444G>T	c.(442-444)caG>caT	p.Q148H	ANKMY1_ENST00000536462.1_Intron|ANKMY1_ENST00000391987.1_Missense_Mutation_p.Q148H|ANKMY1_ENST00000462004.1_Intron|ANKMY1_ENST00000373320.4_Intron|ANKMY1_ENST00000405523.3_Intron|ANKMY1_ENST00000373318.2_Intron|ANKMY1_ENST00000361678.4_Intron|ANKMY1_ENST00000403283.1_Intron|ANKMY1_ENST00000405002.1_Intron|ANKMY1_ENST00000406958.1_Intron|ANKMY1_ENST00000401804.1_Missense_Mutation_p.Q237H	NM_016552.2	NP_057636.2	Q9P2S6	ANKY1_HUMAN	ankyrin repeat and MYND domain containing 1	148							metal ion binding (GO:0046872)	p.Q148H(1)		central_nervous_system(1)|endometrium(5)|large_intestine(4)|lung(14)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	30		all_epithelial(40;2.79e-15)|Breast(86;2.41e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0335)|Lung NSC(271;0.106)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;1.03e-30)|all cancers(36;4.78e-28)|OV - Ovarian serous cystadenocarcinoma(60;1.45e-14)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;7.8e-06)|Lung(119;0.00271)|LUSC - Lung squamous cell carcinoma(224;0.01)|Colorectal(34;0.0101)|COAD - Colon adenocarcinoma(134;0.0476)		AAAAGGGATCCTGTCCCTCCT	0.517																																						uc002vyz.1																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1						c.(442-444)CAG>CAT		ankyrin repeat and MYND domain containing 1							115.0	110.0	111.0					2																	241468696		2203	4300	6503	SO:0001583	missense	51281						zinc ion binding	g.chr2:241468696C>A	AB034636	CCDS2535.1, CCDS2536.1, CCDS63184.1, CCDS63185.1, CCDS74681.1	2q37.3	2013-01-10			ENSG00000144504	ENSG00000144504		"""Zinc fingers, MYND-type"", ""Ankyrin repeat domain containing"""	20987	protein-coding gene	gene with protein product							Standard	XM_005247020		Approved	FLJ20499, ZMYND13	uc002vyz.1	Q9P2S6	OTTHUMG00000133355	ENST00000272972.3:c.444G>T	2.37:g.241468696C>A	ENSP00000272972:p.Gln148His					ANKMY1_uc002vza.1_Intron|ANKMY1_uc010fzd.1_Missense_Mutation_p.Q237H|ANKMY1_uc002vzb.1_Intron|ANKMY1_uc002vzc.1_Intron|ANKMY1_uc002vzd.1_Intron|ANKMY1_uc010fze.1_Intron|ANKMY1_uc002vze.2_Intron	p.Q148H	NM_016552	NP_057636	Q9P2S6	ANKY1_HUMAN		Epithelial(32;1.03e-30)|all cancers(36;4.78e-28)|OV - Ovarian serous cystadenocarcinoma(60;1.45e-14)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;7.8e-06)|Lung(119;0.00271)|LUSC - Lung squamous cell carcinoma(224;0.01)|Colorectal(34;0.0101)|COAD - Colon adenocarcinoma(134;0.0476)	4	673	-		all_epithelial(40;2.79e-15)|Breast(86;2.41e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0335)|Lung NSC(271;0.106)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)	148					B2RB78|Q4ZFV3|Q8IYX5|Q8NDK5|Q9H0V8|Q9NX10	Missense_Mutation	SNP	ENST00000272972.3	37	c.444G>T	CCDS2536.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	13.29|13.29	2.194509|2.194509	0.38806|0.38806	.|.	.|.	ENSG00000144504|ENSG00000144504	ENST00000443318|ENST00000272972;ENST00000391987;ENST00000401804;ENST00000539830;ENST00000418708	.|T;T;T;T	.|0.41758	.|0.99;0.99;0.99;0.99	5.06|5.06	2.23|2.23	0.28157|0.28157	.|.	.|0.573589	.|0.15811	.|N	.|0.243451	.|T	.|0.39226	.|0.1070	M|M	0.68317|0.68317	2.08|2.08	0.80722|0.80722	D|D	1|1	.|P;P	.|0.45283	.|0.855;0.855	.|B;B	.|0.41510	.|0.359;0.359	.|T	.|0.30119	.|-0.9989	.|10	.|0.62326	.|D	.|0.03	-5.5049|-5.5049	6.4749|6.4749	0.22031|0.22031	0.0:0.6211:0.0:0.3789|0.0:0.6211:0.0:0.3789	.|.	.|148;148	.|Q4ZFV3;Q9P2S6	.|.;ANKY1_HUMAN	X|H	93|148;148;237;148;148	.|ENSP00000272972:Q148H;ENSP00000375847:Q148H;ENSP00000385887:Q237H;ENSP00000407015:Q148H	.|ENSP00000272972:Q148H	G|Q	-|-	1|3	0|2	ANKMY1|ANKMY1	241117369|241117369	0.004000|0.004000	0.15560|0.15560	0.633000|0.633000	0.29310|0.29310	0.354000|0.354000	0.29330|0.29330	-0.041000|-0.041000	0.12084|0.12084	0.649000|0.649000	0.30751|0.30751	0.655000|0.655000	0.94253|0.94253	GGA|CAG		PASS	0.517	ANKMY1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000257187.2	NM_017844		19	54	19	54	---	---	---	---
CAPN10	11132	broad.mit.edu	37	2	241528825	241528825	+	Silent	SNP	G	G	C			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr2:241528825G>C	ENST00000391984.2	+	2	403	c.207G>C	c.(205-207)ctG>ctC	p.L69L	CAPN10_ENST00000270364.7_Silent_p.L69L|CAPN10_ENST00000404753.3_Silent_p.L69L|CAPN10_ENST00000391982.2_Silent_p.L69L|CAPN10_ENST00000354082.4_Silent_p.L69L|CAPN10_ENST00000352879.4_Intron|CAPN10-AS1_ENST00000567819.1_RNA	NM_023083.3	NP_075571	Q9HC96	CAN10_HUMAN	calpain 10	69	Calpain catalytic. {ECO:0000255|PROSITE- ProRule:PRU00239}.				actin cytoskeleton reorganization (GO:0031532)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to insulin stimulus (GO:0032869)|positive regulation of glucose import (GO:0046326)|positive regulation of insulin secretion (GO:0032024)|positive regulation of intracellular transport (GO:0032388)|positive regulation of type B pancreatic cell apoptotic process (GO:2000676)|proteolysis (GO:0006508)|type B pancreatic cell apoptotic process (GO:0097050)	cell (GO:0005623)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	calcium-dependent cysteine-type endopeptidase activity (GO:0004198)|cytoskeletal protein binding (GO:0008092)|SNARE binding (GO:0000149)	p.L69L(3)		endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(11)|ovary(3)|urinary_tract(1)	27		all_epithelial(40;1.72e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0294)|all_neural(83;0.0459)|Lung NSC(271;0.094)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;1.13e-31)|all cancers(36;3.24e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.82e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;5.1e-06)|Lung(119;0.00168)|Colorectal(34;0.00495)|LUSC - Lung squamous cell carcinoma(224;0.00813)|COAD - Colon adenocarcinoma(134;0.032)		AGCAGGGGCTGCTGGGGGATT	0.607																																						uc002vzk.1																			3	Substitution - coding silent(3)		lung(3)	ovary(3)|large_intestine(2)|lung(1)	6						c.(205-207)CTG>CTC		calpain 10 isoform a							78.0	89.0	85.0					2																	241528825		2203	4300	6503	SO:0001819	synonymous_variant	11132				actin cytoskeleton reorganization|cellular response to insulin stimulus|positive regulation of apoptosis|positive regulation of glucose import|positive regulation of insulin secretion|positive regulation of intracellular transport|proteolysis	cytosol|plasma membrane	calcium-dependent cysteine-type endopeptidase activity|cytoskeletal protein binding|SNARE binding	g.chr2:241528825G>C	AF089088	CCDS33420.1, CCDS42838.1	2q37.3	2008-05-22			ENSG00000142330	ENSG00000142330			1477	protein-coding gene	gene with protein product		605286				11017071, 11018080	Standard	NM_023083		Approved		uc002vzk.2	Q9HC96	OTTHUMG00000133358	ENST00000391984.2:c.207G>C	2.37:g.241528825G>C						CAPN10_uc010zoh.1_Silent_p.L69L|CAPN10_uc002vzl.1_Silent_p.L69L|CAPN10_uc002vzm.1_Intron|CAPN10_uc002vzn.1_5'UTR|CAPN10_uc002vzo.1_RNA|CAPN10_uc010fzg.1_RNA|CAPN10_uc002vzp.1_RNA|CAPN10_uc002vzq.1_Silent_p.L69L	p.L69L	NM_023083	NP_075571	Q9HC96	CAN10_HUMAN		Epithelial(32;1.13e-31)|all cancers(36;3.24e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.82e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;5.1e-06)|Lung(119;0.00168)|Colorectal(34;0.00495)|LUSC - Lung squamous cell carcinoma(224;0.00813)|COAD - Colon adenocarcinoma(134;0.032)	2	391	+		all_epithelial(40;1.72e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0294)|all_neural(83;0.0459)|Lung NSC(271;0.094)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)	69			Calpain catalytic.		A8MVS7|Q4ZFV1|Q8NCD4|Q96IG4|Q96JI2|Q9HC89|Q9HC90|Q9HC91|Q9HC92|Q9HC93|Q9HC94|Q9HC95	Silent	SNP	ENST00000391984.2	37	c.207G>C	CCDS42838.1																																																																																				PASS	0.607	CAPN10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257191.3	NM_023083		94	126	94	126	---	---	---	---
PASK	23178	broad.mit.edu	37	2	242066238	242066238	+	Missense_Mutation	SNP	C	C	G			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr2:242066238C>G	ENST00000405260.1	-	10	2790	c.2092G>C	c.(2092-2094)Gat>Cat	p.D698H	PASK_ENST00000234040.4_Missense_Mutation_p.D698H|PASK_ENST00000358649.4_Missense_Mutation_p.D698H|PASK_ENST00000539818.1_Missense_Mutation_p.D482H|PASK_ENST00000544142.1_Missense_Mutation_p.D512H|PASK_ENST00000403638.3_Missense_Mutation_p.D698H	NM_001252120.1	NP_001239049.1	Q96RG2	PASK_HUMAN	PAS domain containing serine/threonine kinase	698					negative regulation of glycogen biosynthetic process (GO:0045719)|positive regulation of translation (GO:0045727)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of energy homeostasis (GO:2000505)|regulation of glucagon secretion (GO:0070092)|regulation of respiratory gaseous exchange (GO:0043576)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	ATP binding (GO:0005524)|phosphatidylinositol binding (GO:0035091)|protein serine/threonine kinase activity (GO:0004674)|signal transducer activity (GO:0004871)	p.D698H(2)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|lung(20)|ovary(4)|prostate(4)|skin(1)|stomach(1)|urinary_tract(2)	53		all_cancers(19;4.46e-39)|all_epithelial(40;1.34e-17)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00481)|Lung NSC(271;0.017)|Ovarian(221;0.0228)|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;1.34e-31)|all cancers(36;1e-28)|OV - Ovarian serous cystadenocarcinoma(60;3.53e-14)|Kidney(56;4.31e-09)|KIRC - Kidney renal clear cell carcinoma(57;4.35e-08)|BRCA - Breast invasive adenocarcinoma(100;5.64e-06)|Lung(119;0.000596)|LUSC - Lung squamous cell carcinoma(224;0.00481)|Colorectal(34;0.014)|COAD - Colon adenocarcinoma(134;0.0968)		CCTCCCAGATCGCAGGACGAC	0.667																																						uc002wao.1																			2	Substitution - Missense(2)		lung(2)	ovary(4)|lung(1)|skin(1)	6						c.(2092-2094)GAT>CAT		PAS domain containing serine/threonine kinase							64.0	68.0	67.0					2																	242066238		2203	4300	6503	SO:0001583	missense	23178				regulation of transcription, DNA-dependent	Golgi apparatus	ATP binding|identical protein binding|protein serine/threonine kinase activity|signal transducer activity	g.chr2:242066238C>G	U79240	CCDS2545.1, CCDS58758.1, CCDS58759.1	2q37.3	2008-05-23			ENSG00000115687	ENSG00000115687			17270	protein-coding gene	gene with protein product		607505				11688972, 11459942, 15148392	Standard	NM_001252119		Approved	PASKIN, KIAA0135, STK37	uc010fzl.2	Q96RG2	OTTHUMG00000133392	ENST00000405260.1:c.2092G>C	2.37:g.242066238C>G	ENSP00000384016:p.Asp698His					PASK_uc010zol.1_Missense_Mutation_p.D512H|PASK_uc010zom.1_Missense_Mutation_p.D663H|PASK_uc010fzl.1_Missense_Mutation_p.D698H|PASK_uc010zon.1_Missense_Mutation_p.D479H|PASK_uc002wap.2_Missense_Mutation_p.D241H|PASK_uc002waq.2_Missense_Mutation_p.D698H	p.D698H	NM_015148	NP_055963	Q96RG2	PASK_HUMAN		Epithelial(32;1.34e-31)|all cancers(36;1e-28)|OV - Ovarian serous cystadenocarcinoma(60;3.53e-14)|Kidney(56;4.31e-09)|KIRC - Kidney renal clear cell carcinoma(57;4.35e-08)|BRCA - Breast invasive adenocarcinoma(100;5.64e-06)|Lung(119;0.000596)|LUSC - Lung squamous cell carcinoma(224;0.00481)|Colorectal(34;0.014)|COAD - Colon adenocarcinoma(134;0.0968)	10	2184	-		all_cancers(19;4.46e-39)|all_epithelial(40;1.34e-17)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00481)|Lung NSC(271;0.017)|Ovarian(221;0.0228)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244)	698					G5E9F1|Q05BE4|Q68DY3|Q6GSJ5|Q86XH6|Q99763|Q9UFR7	Missense_Mutation	SNP	ENST00000405260.1	37	c.2092G>C	CCDS2545.1	.	.	.	.	.	.	.	.	.	.	C	15.95	2.985419	0.53934	.	.	ENSG00000115687	ENST00000234040;ENST00000544142;ENST00000405260;ENST00000358649;ENST00000539818;ENST00000403638	T;T;T;T;T;T	0.69306	-0.39;-0.39;-0.39;-0.34;-0.38;0.59	4.45	1.56	0.23342	.	0.638486	0.14468	N	0.317781	T	0.66655	0.2811	L	0.32530	0.975	0.09310	N	1	D;D;D;D;D	0.76494	0.979;0.987;0.987;0.999;0.979	P;P;P;D;P	0.65773	0.758;0.878;0.878;0.938;0.758	T	0.54370	-0.8304	10	0.66056	D	0.02	.	4.7618	0.13111	0.0:0.6153:0.1799:0.2048	.	663;512;698;698;698	B7Z7R6;F5GYW7;Q96RG2-2;G5E9F1;Q96RG2	.;.;.;.;PASK_HUMAN	H	698;512;698;698;482;698	ENSP00000234040:D698H;ENSP00000441374:D512H;ENSP00000384016:D698H;ENSP00000351475:D698H;ENSP00000443083:D482H;ENSP00000384438:D698H	ENSP00000234040:D698H	D	-	1	0	PASK	241714911	0.000000	0.05858	0.000000	0.03702	0.067000	0.16453	-0.150000	0.10189	0.194000	0.20326	0.561000	0.74099	GAT		PASS	0.667	PASK-003	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000323753.1	NM_015148		58	104	58	104	---	---	---	---
CNTN4	152330	broad.mit.edu	37	3	2908472	2908472	+	Missense_Mutation	SNP	C	C	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr3:2908472C>A	ENST00000397461.1	+	7	875	c.491C>A	c.(490-492)tCc>tAc	p.S164Y	CNTN4_ENST00000418658.1_Missense_Mutation_p.S164Y|CNTN4_ENST00000427331.1_Missense_Mutation_p.S164Y|CNTN4_ENST00000358480.3_5'UTR	NM_001206955.1	NP_001193884.1	Q8IWV2	CNTN4_HUMAN	contactin 4	164	Ig-like C2-type 2.				axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|axonogenesis (GO:0007409)|brain development (GO:0007420)|negative regulation of neuron differentiation (GO:0045665)|nervous system development (GO:0007399)|neuron cell-cell adhesion (GO:0007158)|neuron projection development (GO:0031175)|regulation of synaptic plasticity (GO:0048167)	anchored component of membrane (GO:0031225)|axon (GO:0030424)|extracellular region (GO:0005576)|plasma membrane (GO:0005886)		p.S164Y(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(19)|ovary(2)|pancreas(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		Ovarian(110;0.156)		Epithelial(13;0.000695)|all cancers(10;0.0047)|OV - Ovarian serous cystadenocarcinoma(96;0.01)		GAATACCCTTCCTATCAGGAT	0.383																																						uc003bpc.2																			1	Substitution - Missense(1)		lung(1)	large_intestine(2)|ovary(2)|lung(1)|central_nervous_system(1)|pancreas(1)	7						c.(490-492)TCC>TAC		contactin 4 isoform a precursor							133.0	121.0	125.0					3																	2908472		1823	4083	5906	SO:0001583	missense	152330				axon guidance|axonal fasciculation|brain development|negative regulation of neuron differentiation|neuron cell-cell adhesion|regulation of synaptic plasticity	anchored to membrane|axon|extracellular region|plasma membrane	protein binding	g.chr3:2908472C>A	AW665944	CCDS2558.1, CCDS43041.1	3p26.3	2013-02-11			ENSG00000144619	ENSG00000144619		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	2174	protein-coding gene	gene with protein product		607280				8586965, 12202991	Standard	NM_175607		Approved	BIG-2	uc003bpc.3	Q8IWV2	OTTHUMG00000119031	ENST00000397461.1:c.491C>A	3.37:g.2908472C>A	ENSP00000380602:p.Ser164Tyr					CNTN4_uc003bpb.1_5'UTR|CNTN4_uc003bpd.1_Missense_Mutation_p.S164Y	p.S164Y	NM_175607	NP_783200	Q8IWV2	CNTN4_HUMAN		Epithelial(13;0.000695)|all cancers(10;0.0047)|OV - Ovarian serous cystadenocarcinoma(96;0.01)	7	712	+		Ovarian(110;0.156)	164			Ig-like C2-type 2.		B2RAX3|Q8IX14|Q8TC35	Missense_Mutation	SNP	ENST00000397461.1	37	c.491C>A	CCDS43041.1	.	.	.	.	.	.	.	.	.	.	C	5.720	0.317370	0.10845	.	.	ENSG00000144619	ENST00000418658;ENST00000397461;ENST00000427331	T;T;T	0.66995	-0.24;-0.24;-0.24	5.33	5.33	0.75918	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.072558	0.56097	D	0.000022	T	0.55146	0.1902	L	0.33339	1.005	0.18873	N	0.999981	B;P	0.37158	0.136;0.585	B;B	0.36378	0.158;0.223	T	0.47947	-0.9077	10	0.16896	T	0.51	.	16.0908	0.81090	0.0:0.8664:0.1336:0.0	.	164;164	B3KTK4;Q8IWV2	.;CNTN4_HUMAN	Y	164	ENSP00000396010:S164Y;ENSP00000380602:S164Y;ENSP00000413642:S164Y	ENSP00000380602:S164Y	S	+	2	0	CNTN4	2883472	0.000000	0.05858	1.000000	0.80357	0.995000	0.86356	0.716000	0.25836	2.489000	0.83994	0.655000	0.94253	TCC		PASS	0.383	CNTN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239236.2			105	94	105	94	---	---	---	---
GRM7	2917	broad.mit.edu	37	3	7456800	7456800	+	Missense_Mutation	SNP	A	A	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr3:7456800A>T	ENST00000357716.4	+	5	1398	c.1124A>T	c.(1123-1125)aAg>aTg	p.K375M	GRM7_ENST00000486284.1_Missense_Mutation_p.K375M|GRM7_ENST00000389336.4_Missense_Mutation_p.K375M|GRM7_ENST00000402647.2_Missense_Mutation_p.K375M|GRM7_ENST00000403881.1_Missense_Mutation_p.K375M	NM_000844.3	NP_000835.1	Q14831	GRM7_HUMAN	glutamate receptor, metabotropic 7	375					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.K375M(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						TTCAACTGCAAGTTGACGATT	0.413																																						uc003bqm.2																			1	Substitution - Missense(1)		lung(1)	ovary(4)|lung(3)	7						c.(1123-1125)AAG>ATG		glutamate receptor, metabotropic 7 isoform a	L-Glutamic Acid(DB00142)						107.0	99.0	102.0					3																	7456800		2203	4300	6503	SO:0001583	missense	2917				negative regulation of adenylate cyclase activity|negative regulation of cAMP biosynthetic process|negative regulation of glutamate secretion|sensory perception of smell|sensory perception of sound|synaptic transmission	asymmetric synapse|axon|cell cortex|dendritic shaft|integral to plasma membrane|postsynaptic membrane|presynaptic active zone	adenylate cyclase inhibitor activity|calcium ion binding|glutamate binding|group III metabotropic glutamate receptor activity|PDZ domain binding|serine binding	g.chr3:7456800A>T	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.1124A>T	3.37:g.7456800A>T	ENSP00000350348:p.Lys375Met					GRM7_uc011ata.1_RNA|GRM7_uc011atb.1_RNA|GRM7_uc010hcf.2_RNA|GRM7_uc011atc.1_RNA|GRM7_uc010hcg.2_Missense_Mutation_p.K375M|GRM7_uc003bql.2_Missense_Mutation_p.K375M|GRM7_uc003bqn.1_Translation_Start_Site	p.K375M	NM_000844	NP_000835	Q14831	GRM7_HUMAN			5	1398	+			375			Extracellular (Potential).		Q8NFS2|Q8NFS3|Q8NFS4	Missense_Mutation	SNP	ENST00000357716.4	37	c.1124A>T	CCDS43042.1	.	.	.	.	.	.	.	.	.	.	A	24.1	4.493892	0.84962	.	.	ENSG00000196277	ENST00000357716;ENST00000486284;ENST00000389336;ENST00000403881;ENST00000525747;ENST00000402647;ENST00000413492;ENST00000445087	D;D;D;D;D;D	0.86432	-2.12;-2.12;-2.12;-2.12;-2.12;-2.12	5.7	5.7	0.88788	Extracellular ligand-binding receptor (1);	0.101796	0.64402	D	0.000005	D	0.93216	0.7839	M	0.87547	2.89	0.42677	D	0.993535	D;D;P	0.55385	0.965;0.971;0.553	P;P;P	0.60345	0.799;0.873;0.454	D	0.93875	0.7166	10	0.52906	T	0.07	.	15.0845	0.72142	1.0:0.0:0.0:0.0	.	375;375;375	Q14831-5;Q14831;Q14831-2	.;GRM7_HUMAN;.	M	375;375;375;375;375;375;375;32	ENSP00000350348:K375M;ENSP00000417536:K375M;ENSP00000373987:K375M;ENSP00000385664:K375M;ENSP00000384585:K375M;ENSP00000395035:K32M	ENSP00000350348:K375M	K	+	2	0	GRM7	7431800	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.262000	0.65501	2.302000	0.77476	0.528000	0.53228	AAG		PASS	0.413	GRM7-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000246895.3	NM_000844		64	46	64	46	---	---	---	---
FGD5	152273	broad.mit.edu	37	3	14964614	14964614	+	Missense_Mutation	SNP	C	C	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr3:14964614C>A	ENST00000285046.5	+	16	3979	c.3869C>A	c.(3868-3870)gCc>gAc	p.A1290D	FGD5_ENST00000543601.1_Missense_Mutation_p.A1049D|FGD5-AS1_ENST00000430166.1_RNA|FGD5_ENST00000476851.1_3'UTR	NM_152536.3	NP_689749.3	Q6ZNL6	FGD5_HUMAN	FYVE, RhoGEF and PH domain containing 5	1290					actin cytoskeleton organization (GO:0030036)|cytoskeleton organization (GO:0007010)|filopodium assembly (GO:0046847)|positive regulation of GTPase activity (GO:0043547)|regulation of Cdc42 GTPase activity (GO:0043088)|regulation of cell shape (GO:0008360)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|small GTPase binding (GO:0031267)	p.A1290D(1)|p.A1049D(1)		NS(2)|breast(2)|endometrium(3)|kidney(5)|large_intestine(10)|lung(25)|ovary(3)|pancreas(1)|prostate(2)|urinary_tract(1)	54						GACAGGATGGCCAAGGTCTGC	0.607																																						uc003bzc.2																			2	Substitution - Missense(2)		lung(2)	ovary(3)|kidney(1)|pancreas(1)	5						c.(3868-3870)GCC>GAC		FYVE, RhoGEF and PH domain containing 5							59.0	63.0	61.0					3																	14964614		1997	4165	6162	SO:0001583	missense	152273				actin cytoskeleton organization|filopodium assembly|regulation of Cdc42 GTPase activity|regulation of cell shape	cytoskeleton|Golgi apparatus|lamellipodium|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding	g.chr3:14964614C>A	AK097276	CCDS46767.1	3p25.1	2013-01-10			ENSG00000154783	ENSG00000154783		"""Zinc fingers, FYVE domain containing"", ""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	19117	protein-coding gene	gene with protein product		614788					Standard	NM_152536		Approved	ZFYVE23, FLJ39957, FLJ00274	uc003bzc.3	Q6ZNL6	OTTHUMG00000155556	ENST00000285046.5:c.3869C>A	3.37:g.14964614C>A	ENSP00000285046:p.Ala1290Asp					FGD5_uc011avk.1_Missense_Mutation_p.A1290D|FGD5_uc003bzd.2_Missense_Mutation_p.A368D	p.A1290D	NM_152536	NP_689749	Q6ZNL6	FGD5_HUMAN			16	3979	+			1290			FYVE-type.		B3KVQ3|Q6MZY1|Q7Z303|Q8IYP3|Q8N861|Q8N8G4	Missense_Mutation	SNP	ENST00000285046.5	37	c.3869C>A	CCDS46767.1	.	.	.	.	.	.	.	.	.	.	C	21.5	4.162587	0.78226	.	.	ENSG00000154783	ENST00000285046;ENST00000543601	T;T	0.12147	2.71;2.71	4.79	4.79	0.61399	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, FYVE-type (2);Zinc finger, FYVE-related (1);	0.000000	0.53938	D	0.000056	T	0.35219	0.0924	L	0.56769	1.78	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.81914	0.993;0.995	T	0.09530	-1.0670	10	0.62326	D	0.03	-29.2869	17.8447	0.88727	0.0:1.0:0.0:0.0	.	1049;1290	B7ZM68;Q6ZNL6	.;FGD5_HUMAN	D	1290;1049	ENSP00000285046:A1290D;ENSP00000445949:A1049D	ENSP00000285046:A1290D	A	+	2	0	FGD5	14939618	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	4.368000	0.59505	2.200000	0.70718	0.484000	0.47621	GCC		PASS	0.607	FGD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340628.1	NM_152536		39	38	39	38	---	---	---	---
ZCWPW2	152098	broad.mit.edu	37	3	28454649	28454649	+	Missense_Mutation	SNP	G	G	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr3:28454649G>T	ENST00000383768.2	+	3	278	c.90G>T	c.(88-90)tgG>tgT	p.W30C	ZCWPW2_ENST00000421010.1_Missense_Mutation_p.W30C			Q504Y3	ZCPW2_HUMAN	zinc finger, CW type with PWWP domain 2	30							zinc ion binding (GO:0008270)	p.W30C(1)		haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(6)|ovary(2)	17						ACAAAGTGTGGGTTCAATGTG	0.338																																						uc003ceh.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(88-90)TGG>TGT		zinc finger, CW type with PWWP domain 2							120.0	116.0	118.0					3																	28454649		2203	4300	6503	SO:0001583	missense	152098						zinc ion binding	g.chr3:28454649G>T	BC065764	CCDS33723.1	3p23	2005-08-22			ENSG00000206559	ENSG00000206559			23574	protein-coding gene	gene with protein product						14607086	Standard	XM_005264892		Approved	ZCW2	uc003cei.3	Q504Y3	OTTHUMG00000155705	ENST00000383768.2:c.90G>T	3.37:g.28454649G>T	ENSP00000373278:p.Trp30Cys					ZCWPW2_uc003cei.2_Missense_Mutation_p.W30C	p.W30C	NM_001040432	NP_001035522	Q504Y3	ZCPW2_HUMAN			3	258	+			30			CW-type.			Missense_Mutation	SNP	ENST00000383768.2	37	c.90G>T	CCDS33723.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	17.55|17.55	3.417887|3.417887	0.62622|0.62622	.|.	.|.	ENSG00000206559|ENSG00000206559	ENST00000428875|ENST00000420223;ENST00000383768;ENST00000421010	.|T;T	.|0.59772	.|0.24;0.24	5.46|5.46	5.46|5.46	0.80206|0.80206	.|Zinc finger, CW-type (2);	.|0.298771	.|0.24732	.|N	.|0.036044	T|T	0.80808|0.80808	0.4694|0.4694	M|M	0.90977|0.90977	3.165|3.165	0.58432|0.58432	D|D	0.999994|0.999994	.|D	.|0.89917	.|1.0	.|D	.|0.91635	.|0.999	D|D	0.84776|0.84776	0.0770|0.0770	5|10	.|0.87932	.|D	.|0	-6.9199|-6.9199	14.7822|14.7822	0.69774|0.69774	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|30	.|Q504Y3	.|ZCPW2_HUMAN	C|C	14|30	.|ENSP00000373278:W30C;ENSP00000412386:W30C	.|ENSP00000373278:W30C	G|W	+|+	1|3	0|0	ZCWPW2|ZCWPW2	28429653|28429653	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.976000|0.976000	0.68499|0.68499	5.337000|5.337000	0.65941|0.65941	2.558000|2.558000	0.86282|0.86282	0.591000|0.591000	0.81541|0.81541	GGT|TGG		PASS	0.338	ZCWPW2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341318.1	XM_087384		60	66	60	66	---	---	---	---
RBMS3	27303	broad.mit.edu	37	3	30032588	30032588	+	Missense_Mutation	SNP	A	A	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr3:30032588A>T	ENST00000383767.2	+	14	1531	c.1195A>T	c.(1195-1197)Acc>Tcc	p.T399S	RBMS3_ENST00000434693.2_Missense_Mutation_p.T398S|RBMS3_ENST00000383766.2_Missense_Mutation_p.T381S|RBMS3_ENST00000396583.3_Missense_Mutation_p.T396S|RBMS3_ENST00000273139.9_Missense_Mutation_p.T383S|RBMS3_ENST00000452462.1_Missense_Mutation_p.T383S|RBMS3_ENST00000456853.1_Missense_Mutation_p.T396S|RBMS3_ENST00000473799.1_3'UTR			Q6XE24	RBMS3_HUMAN	RNA binding motif, single stranded interacting protein 3	399					positive regulation of translation (GO:0045727)	cytoplasm (GO:0005737)	mRNA 3'-UTR binding (GO:0003730)|nucleotide binding (GO:0000166)	p.T399S(1)		breast(1)|central_nervous_system(1)|large_intestine(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	11		Ovarian(412;0.0956)				TGTTGCTGATACCTCTCCCCA	0.483																																						uc003cel.2																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1						c.(1195-1197)ACC>TCC		RNA binding motif, single stranded interacting							204.0	169.0	181.0					3																	30032588		2203	4300	6503	SO:0001583	missense	27303					cytoplasm	nucleotide binding|RNA binding	g.chr3:30032588A>T	AF023259	CCDS33724.1, CCDS33725.1, CCDS33726.1, CCDS54557.1, CCDS54558.1	3p24-p23	2013-02-12	2010-04-20		ENSG00000144642	ENSG00000144642		"""RNA binding motif (RRM) containing"""	13427	protein-coding gene	gene with protein product	"""RNA-binding protein"""	605786	"""RNA binding motif, single stranded interacting protein"""			10675610	Standard	NM_001003793		Approved		uc003cel.3	Q6XE24	OTTHUMG00000155699	ENST00000383767.2:c.1195A>T	3.37:g.30032588A>T	ENSP00000373277:p.Thr399Ser					RBMS3_uc003cek.2_Missense_Mutation_p.T383S|RBMS3_uc010hfq.2_Missense_Mutation_p.T396S|RBMS3_uc003cem.2_Missense_Mutation_p.T381S|RBMS3_uc010hfr.2_Missense_Mutation_p.T383S	p.T399S	NM_001003793	NP_001003793	Q6XE24	RBMS3_HUMAN			14	1425	+		Ovarian(412;0.0956)	399					A8K9S4|B7ZL17|G5E9J9|O75876|Q17RI0|Q6XE23	Missense_Mutation	SNP	ENST00000383767.2	37	c.1195A>T	CCDS33724.1	.	.	.	.	.	.	.	.	.	.	A	11.26	1.585291	0.28268	.	.	ENSG00000144642	ENST00000434693;ENST00000396583;ENST00000383767;ENST00000273139;ENST00000383766;ENST00000452462;ENST00000456853	T;T;T;T;T;T;T	0.25414	1.82;1.82;1.83;1.81;1.96;1.8;1.82	5.3	5.3	0.74995	.	0.059321	0.64402	D	0.000002	T	0.14227	0.0344	N	0.08118	0	0.32366	N	0.556523	B;B;B;B	0.13145	0.007;0.002;0.004;0.003	B;B;B;B	0.13407	0.009;0.005;0.008;0.003	T	0.10405	-1.0631	9	.	.	.	.	15.2779	0.73756	1.0:0.0:0.0:0.0	.	383;396;381;399	G5E9J9;Q6XE24-2;Q6XE24-3;Q6XE24	.;.;.;RBMS3_HUMAN	S	398;396;399;383;381;383;396	ENSP00000395592:T398S;ENSP00000379828:T396S;ENSP00000373277:T399S;ENSP00000273139:T383S;ENSP00000373276:T381S;ENSP00000397926:T383S;ENSP00000400519:T396S	.	T	+	1	0	RBMS3	30007592	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.471000	0.66762	2.000000	0.58554	0.533000	0.62120	ACC		PASS	0.483	RBMS3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000341306.1	NM_001003792		35	23	35	23	---	---	---	---
PDCD6IP	10015	broad.mit.edu	37	3	33877570	33877570	+	Missense_Mutation	SNP	G	G	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr3:33877570G>T	ENST00000307296.3	+	8	1246	c.869G>T	c.(868-870)cGc>cTc	p.R290L	PDCD6IP_ENST00000457054.2_Missense_Mutation_p.R295L			Q8WUM4	PDC6I_HUMAN	programmed cell death 6 interacting protein	290	BRO1. {ECO:0000255|PROSITE- ProRule:PRU00526}.|Interaction with CHMP4A, CHMP4B and CHMP4C.|Interaction with EIAV p9.				apoptotic process (GO:0006915)|cell cycle (GO:0007049)|cell division (GO:0051301)|protein transport (GO:0015031)|viral life cycle (GO:0019058)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|immunological synapse (GO:0001772)|membrane (GO:0016020)|vesicle (GO:0031982)	calcium-dependent protein binding (GO:0048306)|protein homodimerization activity (GO:0042803)	p.R290L(1)		central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(6)|ovary(2)|skin(1)|stomach(1)	23						GTGGCATCTCGCTATGATGAA	0.358																																						uc003cfx.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(868-870)CGC>CTC		programmed cell death 6 interacting protein							117.0	120.0	119.0					3																	33877570		2203	4300	6503	SO:0001583	missense	10015				apoptosis|cell cycle|cell division|interspecies interaction between organisms|protein transport	cytosol|melanosome|microtubule organizing center	calcium-dependent protein binding	g.chr3:33877570G>T	BC020066	CCDS2660.1, CCDS54561.1	3p22.3	2012-08-30	2001-11-29		ENSG00000170248	ENSG00000170248			8766	protein-coding gene	gene with protein product	"""ALG-2 interacting protein X"""	608074	"""programmed cell death 6-interacting protein"""			9880530	Standard	NM_001162429		Approved	Alix, AIP1, Hp95	uc003cfy.4	Q8WUM4	OTTHUMG00000130751	ENST00000307296.3:c.869G>T	3.37:g.33877570G>T	ENSP00000307387:p.Arg290Leu					PDCD6IP_uc003cfy.2_Missense_Mutation_p.R295L|PDCD6IP_uc011axw.1_Missense_Mutation_p.R71L	p.R290L	NM_013374	NP_037506	Q8WUM4	PDC6I_HUMAN			8	1024	+			290			Interaction with EIAV p9.|Interaction with CHMP4A, CHMP4B and CHMP4C.|BRO1.		C5MQH7|E9PFU1|Q6NUS1|Q9BX86|Q9NUN0|Q9P2H2|Q9UKL5	Missense_Mutation	SNP	ENST00000307296.3	37	c.869G>T	CCDS2660.1	.	.	.	.	.	.	.	.	.	.	G	31	5.088738	0.94100	.	.	ENSG00000170248	ENST00000307296;ENST00000457054	T;T	0.18016	2.24;2.24	5.18	5.18	0.71444	BRO1 domain (3);	0.052437	0.64402	D	0.000001	T	0.18718	0.0449	L	0.46614	1.455	0.80722	D	1	P;P;P	0.35542	0.497;0.455;0.508	B;B;B	0.36134	0.177;0.156;0.218	T	0.04005	-1.0985	10	0.17369	T	0.5	-3.8982	18.691	0.91582	0.0:0.0:1.0:0.0	.	71;295;290	B7Z5C1;E9PFU1;Q8WUM4	.;.;PDC6I_HUMAN	L	290;295	ENSP00000307387:R290L;ENSP00000411825:R295L	ENSP00000307387:R290L	R	+	2	0	PDCD6IP	33852574	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.852000	0.99516	2.407000	0.81776	0.650000	0.86243	CGC		PASS	0.358	PDCD6IP-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000253251.2			98	97	98	97	---	---	---	---
OXSR1	9943	broad.mit.edu	37	3	38271889	38271889	+	Nonsense_Mutation	SNP	A	A	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr3:38271889A>T	ENST00000446845.1	+	10	1291	c.919A>T	c.(919-921)Aga>Tga	p.R307*	OXSR1_ENST00000311806.3_Nonsense_Mutation_p.R307*					oxidative stress responsive 1									p.R307*(1)		skin(1)	1				KIRC - Kidney renal clear cell carcinoma(284;0.0588)|Kidney(284;0.0738)		AACATTGCAGAGAGCACCAAC	0.284																																						uc003chy.2																			1	Substitution - Nonsense(1)		lung(1)	skin(1)	1						c.(919-921)AGA>TGA		oxidative-stress responsive 1							63.0	77.0	72.0					3																	38271889		2203	4292	6495	SO:0001587	stop_gained	9943				intracellular protein kinase cascade|response to oxidative stress		ATP binding|identical protein binding|magnesium ion binding|protein serine/threonine kinase activity	g.chr3:38271889A>T	AB017642	CCDS2675.1	3p22.2	2013-05-17	2013-05-17	2004-11-26	ENSG00000172939	ENSG00000172939			8508	protein-coding gene	gene with protein product		604046	"""oxidative-stress responsive 1"""	OSR1		10083736	Standard	XM_005265638		Approved	KIAA1101	uc003chy.3	O95747	OTTHUMG00000131084	ENST00000446845.1:c.919A>T	3.37:g.38271889A>T	ENSP00000415851:p.Arg307*					OXSR1_uc010hhb.2_Nonsense_Mutation_p.R241*|OXSR1_uc010hha.1_Nonsense_Mutation_p.R239*	p.R307*	NM_005109	NP_005100	O95747	OXSR1_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0588)|Kidney(284;0.0738)	10	1261	+			307						Nonsense_Mutation	SNP	ENST00000446845.1	37	c.919A>T		.	.	.	.	.	.	.	.	.	.	A	38	7.086349	0.98055	.	.	ENSG00000172939	ENST00000446845;ENST00000311806	.	.	.	4.83	3.57	0.40892	.	0.222920	0.53938	D	0.000052	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.12103	T	0.63	-7.2959	10.7233	0.46052	0.8405:0.1595:0.0:0.0	.	.	.	.	X	307	.	ENSP00000311713:R307X	R	+	1	2	OXSR1	38246893	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.770000	0.62309	1.937000	0.56155	0.397000	0.26171	AGA		PASS	0.284	OXSR1-004	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000342708.1	NM_005109		80	55	80	55	---	---	---	---
SCN5A	6331	broad.mit.edu	37	3	38603979	38603979	+	Missense_Mutation	SNP	C	C	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr3:38603979C>A	ENST00000333535.4	-	22	4039	c.3890G>T	c.(3889-3891)gGc>gTc	p.G1297V	SCN5A_ENST00000450102.2_Missense_Mutation_p.G1243V|SCN5A_ENST00000425664.1_Missense_Mutation_p.G1297V|SCN5A_ENST00000414099.2_Missense_Mutation_p.G1297V|SCN5A_ENST00000443581.1_Missense_Mutation_p.G1296V|SCN5A_ENST00000455624.2_Missense_Mutation_p.G1296V|SCN5A_ENST00000449557.2_Missense_Mutation_p.G1243V|SCN5A_ENST00000451551.2_Missense_Mutation_p.G1243V|SCN5A_ENST00000413689.1_Missense_Mutation_p.G1297V|SCN5A_ENST00000423572.2_Missense_Mutation_p.G1296V			Q14524	SCN5A_HUMAN	sodium channel, voltage-gated, type V, alpha subunit	1297					AV node cell to bundle of His cell communication (GO:0086067)|brainstem development (GO:0003360)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|cardiac muscle cell action potential involved in contraction (GO:0086002)|cardiac muscle contraction (GO:0060048)|cardiac ventricle development (GO:0003231)|cellular response to calcium ion (GO:0071277)|cerebellum development (GO:0021549)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|membrane depolarization during SA node cell action potential (GO:0086046)|neuronal action potential (GO:0019228)|odontogenesis of dentin-containing tooth (GO:0042475)|positive regulation of action potential (GO:0045760)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of sodium ion transport (GO:0010765)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of atrial cardiac muscle cell membrane repolarization (GO:0060372)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of heart rate (GO:0002027)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of sodium ion transmembrane transport (GO:1902305)|regulation of ventricular cardiac muscle cell membrane depolarization (GO:0060373)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|response to denervation involved in regulation of muscle adaptation (GO:0014894)|SA node cell to atrial cardiac muscle cell communication (GO:0086070)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|telencephalon development (GO:0021537)|ventricular cardiac muscle cell action potential (GO:0086005)	caveola (GO:0005901)|cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|intercalated disc (GO:0014704)|lateral plasma membrane (GO:0016328)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|voltage-gated sodium channel complex (GO:0001518)	ankyrin binding (GO:0030506)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|fibroblast growth factor binding (GO:0017134)|ion channel binding (GO:0044325)|nitric-oxide synthase binding (GO:0050998)|protein kinase binding (GO:0019901)|scaffold protein binding (GO:0097110)|ubiquitin protein ligase binding (GO:0031625)|voltage-gated sodium channel activity (GO:0005248)|voltage-gated sodium channel activity involved in cardiac muscle cell action potential (GO:0086006)	p.G1297V(2)		NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4)	107	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	Ajmaline(DB01426)|Aprindine(DB01429)|Benzonatate(DB00868)|Carbamazepine(DB00564)|Cinchocaine(DB00527)|Cocaine(DB00907)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lidocaine(DB00281)|Mexiletine(DB00379)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine barbiturate(DB01346)|Quinidine(DB00908)|Ranolazine(DB00243)|Riluzole(DB00740)|Tocainide(DB01056)|Valproic Acid(DB00313)|Verapamil(DB00661)|Zonisamide(DB00909)	CTTGATGGGGCCCATCTCGGC	0.602																																						uc003cio.2																			2	Substitution - Missense(2)		lung(2)	ovary(4)|pancreas(2)|skin(2)|central_nervous_system(1)	9						c.(3889-3891)GGC>GTC		voltage-gated sodium channel type V alpha	Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661)						42.0	46.0	45.0					3																	38603979		2061	4214	6275	SO:0001583	missense	6331				blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction	sarcolemma|voltage-gated sodium channel complex	protein binding|voltage-gated sodium channel activity	g.chr3:38603979C>A	AJ310893	CCDS46796.1, CCDS46797.1, CCDS46798.1, CCDS46799.1, CCDS54569.1, CCDS54570.1	3p21	2014-09-17	2007-01-23		ENSG00000183873	ENSG00000183873		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10593	protein-coding gene	gene with protein product	"""long QT syndrome 3"""	600163	"""sodium channel, voltage-gated, type V, alpha (long QT syndrome 3)"""	CMD1E		7842012, 15466643, 16382098	Standard	NM_198056		Approved	Nav1.5, LQT3, HB1, HBBD, PFHB1, IVF, HB2, HH1, SSS1, CDCD2, CMPD2, ICCD	uc021wvl.1	Q14524	OTTHUMG00000156166	ENST00000333535.4:c.3890G>T	3.37:g.38603979C>A	ENSP00000328968:p.Gly1297Val					SCN5A_uc003cin.2_Missense_Mutation_p.G1296V|SCN5A_uc003cil.3_Missense_Mutation_p.G1297V|SCN5A_uc010hhi.2_Missense_Mutation_p.G1297V|SCN5A_uc010hhk.2_Missense_Mutation_p.G1296V|SCN5A_uc011ayr.1_Missense_Mutation_p.G1243V|SCN5A_uc010hhj.1_Missense_Mutation_p.G907V	p.G1297V	NM_198056	NP_932173	Q14524	SCN5A_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	22	4084	-	Medulloblastoma(35;0.163)		1297			Helical; Voltage-sensor; Name=S4 of repeat III; (Potential).		A5H1P8|A6N922|A6N923|B2RTU0|E7ET19|E9PEF3|E9PEK2|E9PFW7|Q59H93|Q75RX9|Q75RY0|Q86UR3|Q8IZC9|Q96J69	Missense_Mutation	SNP	ENST00000333535.4	37	c.3890G>T	CCDS46796.1	.	.	.	.	.	.	.	.	.	.	C	13.02	2.113223	0.37339	.	.	ENSG00000183873	ENST00000414099;ENST00000423572;ENST00000413689;ENST00000451551;ENST00000443581;ENST00000425664;ENST00000333535;ENST00000455624;ENST00000450102;ENST00000449557	D;D;D;D;D;D;D;D;D;D	0.98567	-5.0;-5.0;-5.0;-5.0;-5.0;-5.0;-5.0;-5.0;-5.0;-5.0	4.04	4.04	0.47022	Ion transport (1);	0.124143	0.53938	D	0.000060	D	0.98887	0.9623	M	0.82630	2.6	0.80722	D	1	D;D;D;D;D;D;D	0.89917	0.996;1.0;0.998;0.998;0.999;0.983;0.98	D;D;D;D;D;P;P	0.97110	0.958;1.0;0.974;0.985;0.968;0.835;0.744	D	0.99741	1.1015	10	0.87932	D	0	.	16.4146	0.83729	0.0:1.0:0.0:0.0	.	1243;1296;1297;1297;1297;1296;1297	E9PEF3;E9PHB6;Q14524-6;E9PG18;Q14524;Q14524-2;E9PEK2	.;.;.;.;SCN5A_HUMAN;.;.	V	1297;1296;1297;1243;1296;1297;1297;1296;1243;1243	ENSP00000398962:G1297V;ENSP00000398266:G1296V;ENSP00000410257:G1297V;ENSP00000388797:G1243V;ENSP00000397915:G1296V;ENSP00000416634:G1297V;ENSP00000328968:G1297V;ENSP00000399524:G1296V;ENSP00000403355:G1243V;ENSP00000413996:G1243V	ENSP00000328968:G1297V	G	-	2	0	SCN5A	38578983	1.000000	0.71417	1.000000	0.80357	0.040000	0.13550	3.835000	0.55805	2.105000	0.64084	0.655000	0.94253	GGC		PASS	0.602	SCN5A-014	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000377958.1	NM_198056		18	12	18	12	---	---	---	---
SCN5A	6331	broad.mit.edu	37	3	38616872	38616872	+	Silent	SNP	C	C	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr3:38616872C>T	ENST00000333535.4	-	20	3731	c.3582G>A	c.(3580-3582)ttG>ttA	p.L1194L	SCN5A_ENST00000450102.2_Silent_p.L1140L|SCN5A_ENST00000425664.1_Silent_p.L1194L|SCN5A_ENST00000414099.2_Silent_p.L1194L|SCN5A_ENST00000443581.1_Silent_p.L1193L|SCN5A_ENST00000455624.2_Silent_p.L1193L|SCN5A_ENST00000449557.2_Silent_p.L1140L|SCN5A_ENST00000451551.2_Silent_p.L1140L|SCN5A_ENST00000413689.1_Silent_p.L1194L|SCN5A_ENST00000423572.2_Silent_p.L1193L			Q14524	SCN5A_HUMAN	sodium channel, voltage-gated, type V, alpha subunit	1194					AV node cell to bundle of His cell communication (GO:0086067)|brainstem development (GO:0003360)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|cardiac muscle cell action potential involved in contraction (GO:0086002)|cardiac muscle contraction (GO:0060048)|cardiac ventricle development (GO:0003231)|cellular response to calcium ion (GO:0071277)|cerebellum development (GO:0021549)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|membrane depolarization during SA node cell action potential (GO:0086046)|neuronal action potential (GO:0019228)|odontogenesis of dentin-containing tooth (GO:0042475)|positive regulation of action potential (GO:0045760)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of sodium ion transport (GO:0010765)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of atrial cardiac muscle cell membrane repolarization (GO:0060372)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of heart rate (GO:0002027)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of sodium ion transmembrane transport (GO:1902305)|regulation of ventricular cardiac muscle cell membrane depolarization (GO:0060373)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|response to denervation involved in regulation of muscle adaptation (GO:0014894)|SA node cell to atrial cardiac muscle cell communication (GO:0086070)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|telencephalon development (GO:0021537)|ventricular cardiac muscle cell action potential (GO:0086005)	caveola (GO:0005901)|cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|intercalated disc (GO:0014704)|lateral plasma membrane (GO:0016328)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|voltage-gated sodium channel complex (GO:0001518)	ankyrin binding (GO:0030506)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|fibroblast growth factor binding (GO:0017134)|ion channel binding (GO:0044325)|nitric-oxide synthase binding (GO:0050998)|protein kinase binding (GO:0019901)|scaffold protein binding (GO:0097110)|ubiquitin protein ligase binding (GO:0031625)|voltage-gated sodium channel activity (GO:0005248)|voltage-gated sodium channel activity involved in cardiac muscle cell action potential (GO:0086006)	p.L1194L(2)		NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4)	107	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	Ajmaline(DB01426)|Aprindine(DB01429)|Benzonatate(DB00868)|Carbamazepine(DB00564)|Cinchocaine(DB00527)|Cocaine(DB00907)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lidocaine(DB00281)|Mexiletine(DB00379)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine barbiturate(DB01346)|Quinidine(DB00908)|Ranolazine(DB00243)|Riluzole(DB00740)|Tocainide(DB01056)|Valproic Acid(DB00313)|Verapamil(DB00661)|Zonisamide(DB00909)	AGGTCTTGCGCAACCGCCACC	0.612																																						uc003cio.2																			2	Substitution - coding silent(2)		lung(2)	ovary(4)|pancreas(2)|skin(2)|central_nervous_system(1)	9						c.(3580-3582)TTG>TTA		voltage-gated sodium channel type V alpha	Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661)						35.0	39.0	37.0					3																	38616872		2203	4300	6503	SO:0001819	synonymous_variant	6331				blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction	sarcolemma|voltage-gated sodium channel complex	protein binding|voltage-gated sodium channel activity	g.chr3:38616872C>T	AJ310893	CCDS46796.1, CCDS46797.1, CCDS46798.1, CCDS46799.1, CCDS54569.1, CCDS54570.1	3p21	2014-09-17	2007-01-23		ENSG00000183873	ENSG00000183873		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10593	protein-coding gene	gene with protein product	"""long QT syndrome 3"""	600163	"""sodium channel, voltage-gated, type V, alpha (long QT syndrome 3)"""	CMD1E		7842012, 15466643, 16382098	Standard	NM_198056		Approved	Nav1.5, LQT3, HB1, HBBD, PFHB1, IVF, HB2, HH1, SSS1, CDCD2, CMPD2, ICCD	uc021wvl.1	Q14524	OTTHUMG00000156166	ENST00000333535.4:c.3582G>A	3.37:g.38616872C>T						SCN5A_uc003cin.2_Silent_p.L1193L|SCN5A_uc003cil.3_Silent_p.L1194L|SCN5A_uc010hhi.2_Silent_p.L1194L|SCN5A_uc010hhk.2_Silent_p.L1193L|SCN5A_uc011ayr.1_Silent_p.L1140L|SCN5A_uc010hhj.1_Silent_p.L804L	p.L1194L	NM_198056	NP_932173	Q14524	SCN5A_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	20	3776	-	Medulloblastoma(35;0.163)		1194					A5H1P8|A6N922|A6N923|B2RTU0|E7ET19|E9PEF3|E9PEK2|E9PFW7|Q59H93|Q75RX9|Q75RY0|Q86UR3|Q8IZC9|Q96J69	Silent	SNP	ENST00000333535.4	37	c.3582G>A	CCDS46796.1																																																																																				PASS	0.612	SCN5A-014	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000377958.1	NM_198056		8	4	8	4	---	---	---	---
SCN5A	6331	broad.mit.edu	37	3	38639229	38639229	+	Silent	SNP	G	G	A	rs371649934		TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr3:38639229G>A	ENST00000333535.4	-	14	2402	c.2253C>T	c.(2251-2253)gtC>gtT	p.V751V	SCN5A_ENST00000450102.2_Silent_p.V751V|SCN5A_ENST00000425664.1_Silent_p.V751V|SCN5A_ENST00000414099.2_Silent_p.V751V|SCN5A_ENST00000443581.1_Silent_p.V751V|SCN5A_ENST00000455624.2_Silent_p.V751V|SCN5A_ENST00000449557.2_Silent_p.V751V|SCN5A_ENST00000451551.2_Silent_p.V751V|SCN5A_ENST00000413689.1_Silent_p.V751V|SCN5A_ENST00000423572.2_Silent_p.V751V			Q14524	SCN5A_HUMAN	sodium channel, voltage-gated, type V, alpha subunit	751					AV node cell to bundle of His cell communication (GO:0086067)|brainstem development (GO:0003360)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|cardiac muscle cell action potential involved in contraction (GO:0086002)|cardiac muscle contraction (GO:0060048)|cardiac ventricle development (GO:0003231)|cellular response to calcium ion (GO:0071277)|cerebellum development (GO:0021549)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|membrane depolarization during SA node cell action potential (GO:0086046)|neuronal action potential (GO:0019228)|odontogenesis of dentin-containing tooth (GO:0042475)|positive regulation of action potential (GO:0045760)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of sodium ion transport (GO:0010765)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of atrial cardiac muscle cell membrane repolarization (GO:0060372)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of heart rate (GO:0002027)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of sodium ion transmembrane transport (GO:1902305)|regulation of ventricular cardiac muscle cell membrane depolarization (GO:0060373)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|response to denervation involved in regulation of muscle adaptation (GO:0014894)|SA node cell to atrial cardiac muscle cell communication (GO:0086070)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|telencephalon development (GO:0021537)|ventricular cardiac muscle cell action potential (GO:0086005)	caveola (GO:0005901)|cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|intercalated disc (GO:0014704)|lateral plasma membrane (GO:0016328)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|voltage-gated sodium channel complex (GO:0001518)	ankyrin binding (GO:0030506)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|fibroblast growth factor binding (GO:0017134)|ion channel binding (GO:0044325)|nitric-oxide synthase binding (GO:0050998)|protein kinase binding (GO:0019901)|scaffold protein binding (GO:0097110)|ubiquitin protein ligase binding (GO:0031625)|voltage-gated sodium channel activity (GO:0005248)|voltage-gated sodium channel activity involved in cardiac muscle cell action potential (GO:0086006)	p.V751V(2)		NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4)	107	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	Ajmaline(DB01426)|Aprindine(DB01429)|Benzonatate(DB00868)|Carbamazepine(DB00564)|Cinchocaine(DB00527)|Cocaine(DB00907)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lidocaine(DB00281)|Mexiletine(DB00379)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine barbiturate(DB01346)|Quinidine(DB00908)|Ranolazine(DB00243)|Riluzole(DB00740)|Tocainide(DB01056)|Valproic Acid(DB00313)|Verapamil(DB00661)|Zonisamide(DB00909)	CCAGGTTTCCGACCTGCAGCA	0.547																																						uc003cio.2																			2	Substitution - coding silent(2)		lung(2)	ovary(4)|pancreas(2)|skin(2)|central_nervous_system(1)	9						c.(2251-2253)GTC>GTT		voltage-gated sodium channel type V alpha	Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661)	G	,,,,,	0,3998		0,0,1999	74.0	72.0	73.0		2253,2253,2253,2253,2253,2253	-0.6	1.0	3		73	1,8343		0,1,4171	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	SCN5A	NM_000335.4,NM_001099404.1,NM_001099405.1,NM_001160160.1,NM_001160161.1,NM_198056.2	,,,,,	0,1,6170	AA,AG,GG		0.012,0.0,0.0081	,,,,,	751/2016,751/2017,751/1999,751/1984,751/1963,751/2017	38639229	1,12341	1999	4172	6171	SO:0001819	synonymous_variant	6331				blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction	sarcolemma|voltage-gated sodium channel complex	protein binding|voltage-gated sodium channel activity	g.chr3:38639229G>A	AJ310893	CCDS46796.1, CCDS46797.1, CCDS46798.1, CCDS46799.1, CCDS54569.1, CCDS54570.1	3p21	2014-09-17	2007-01-23		ENSG00000183873	ENSG00000183873		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10593	protein-coding gene	gene with protein product	"""long QT syndrome 3"""	600163	"""sodium channel, voltage-gated, type V, alpha (long QT syndrome 3)"""	CMD1E		7842012, 15466643, 16382098	Standard	NM_198056		Approved	Nav1.5, LQT3, HB1, HBBD, PFHB1, IVF, HB2, HH1, SSS1, CDCD2, CMPD2, ICCD	uc021wvl.1	Q14524	OTTHUMG00000156166	ENST00000333535.4:c.2253C>T	3.37:g.38639229G>A						SCN5A_uc003cin.2_Silent_p.V751V|SCN5A_uc003cil.3_Silent_p.V751V|SCN5A_uc010hhi.2_Silent_p.V751V|SCN5A_uc010hhk.2_Silent_p.V751V|SCN5A_uc011ayr.1_Silent_p.V751V|SCN5A_uc010hhj.1_Silent_p.V362V	p.V751V	NM_198056	NP_932173	Q14524	SCN5A_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	14	2447	-	Medulloblastoma(35;0.163)		751			Helical; Name=S2 of repeat II; (Potential).		A5H1P8|A6N922|A6N923|B2RTU0|E7ET19|E9PEF3|E9PEK2|E9PFW7|Q59H93|Q75RX9|Q75RY0|Q86UR3|Q8IZC9|Q96J69	Silent	SNP	ENST00000333535.4	37	c.2253C>T	CCDS46796.1																																																																																				PASS	0.547	SCN5A-014	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000377958.1	NM_198056		35	28	35	28	---	---	---	---
SCN11A	11280	broad.mit.edu	37	3	38888717	38888717	+	Missense_Mutation	SNP	T	T	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr3:38888717T>A	ENST00000302328.3	-	26	5042	c.4844A>T	c.(4843-4845)gAg>gTg	p.E1615V	SCN11A_ENST00000450244.1_Missense_Mutation_p.E1615V|SCN11A_ENST00000456224.3_Missense_Mutation_p.E1577V	NM_014139.2	NP_054858.2	Q9UI33	SCNBA_HUMAN	sodium channel, voltage-gated, type XI, alpha subunit	1615					cell death (GO:0008219)|membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|regulation of sensory perception of pain (GO:0051930)|response to drug (GO:0042493)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	C-fiber (GO:0044299)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)	p.E1615V(1)		NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3)	119				Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	Cocaine(DB00907)|Valproic Acid(DB00313)|Zonisamide(DB00909)	CAAAGGGTCCTCACTTTCTTC	0.373																																						uc011ays.1																			1	Substitution - Missense(1)		lung(1)	skin(6)|ovary(1)|haematopoietic_and_lymphoid_tissue(1)|pancreas(1)	9						c.(4843-4845)GAG>GTG		sodium channel, voltage-gated, type XI, alpha	Cocaine(DB00907)						106.0	109.0	108.0					3																	38888717		2203	4300	6503	SO:0001583	missense	11280				response to drug	voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr3:38888717T>A	AF126739	CCDS33737.1	3p22.2	2012-02-26	2007-01-23		ENSG00000168356	ENSG00000168356		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10583	protein-coding gene	gene with protein product		604385	"""sodium channel, voltage-gated, type XI, alpha polypeptide"", ""sodium channel, voltage-gated, type XII, alpha"""	SCN12A		10444332, 16382098	Standard	NM_014139		Approved	Nav1.9, NaN, SNS-2	uc021wvy.1	Q9UI33	OTTHUMG00000048246	ENST00000302328.3:c.4844A>T	3.37:g.38888717T>A	ENSP00000307599:p.Glu1615Val						p.E1615V	NM_014139	NP_054858	Q9UI33	SCNBA_HUMAN		Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	26	5043	-			1615					A6NN05|C9JD48|C9JR31|Q68K15|Q8NDX3|Q9UHE0|Q9UHM0	Missense_Mutation	SNP	ENST00000302328.3	37	c.4844A>T	CCDS33737.1	.	.	.	.	.	.	.	.	.	.	T	14.27	2.484125	0.44147	.	.	ENSG00000168356	ENST00000302328;ENST00000450244;ENST00000456224	D;D;D	0.96685	-4.09;-4.09;-4.04	5.33	2.73	0.32206	.	0.122560	0.52532	D	0.000067	D	0.94387	0.8195	M	0.82323	2.585	0.29946	N	0.820642	P	0.44734	0.842	B	0.31946	0.138	D	0.91165	0.4964	10	0.72032	D	0.01	.	12.0982	0.53767	0.0:0.0:0.5485:0.4515	.	1615	Q9UI33	SCNBA_HUMAN	V	1615;1615;1577	ENSP00000307599:E1615V;ENSP00000400945:E1615V;ENSP00000416757:E1577V	ENSP00000307599:E1615V	E	-	2	0	SCN11A	38863721	0.592000	0.26832	0.997000	0.53966	0.984000	0.73092	2.514000	0.45503	0.822000	0.34565	0.366000	0.22137	GAG		PASS	0.373	SCN11A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109746.4	NM_014139		81	75	81	75	---	---	---	---
TTC21A	199223	broad.mit.edu	37	3	39167842	39167842	+	Missense_Mutation	SNP	G	G	C			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr3:39167842G>C	ENST00000431162.2	+	12	1641	c.1507G>C	c.(1507-1509)Gac>Cac	p.D503H	TTC21A_ENST00000440121.1_Missense_Mutation_p.D454H|TTC21A_ENST00000301819.6_Missense_Mutation_p.D503H			Q8NDW8	TT21A_HUMAN	tetratricopeptide repeat domain 21A	503								p.D503H(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(9)|lung(23)|ovary(1)|prostate(1)|skin(3)	50				KIRC - Kidney renal clear cell carcinoma(284;0.0588)|Kidney(284;0.0738)		AGCTCTGATCGACCCCCTGTA	0.542																																						uc003cjc.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1507-1509)GAC>CAC		tetratricopeptide repeat domain 21A isoform 2							124.0	126.0	125.0					3																	39167842		1989	4173	6162	SO:0001583	missense	199223						binding	g.chr3:39167842G>C	AJ487015	CCDS43068.1, CCDS46800.1, CCDS43068.2	3p22.2	2014-09-04			ENSG00000168026	ENSG00000168026		"""Tetratricopeptide (TTC) repeat domain containing"""	30761	protein-coding gene	gene with protein product		611430					Standard	NM_145755		Approved	STI2	uc003cjc.2	Q8NDW8	OTTHUMG00000155973	ENST00000431162.2:c.1507G>C	3.37:g.39167842G>C	ENSP00000398211:p.Asp503His					TTC21A_uc003cje.2_Missense_Mutation_p.D503H|TTC21A_uc003cjd.2_RNA|TTC21A_uc011ayx.1_Missense_Mutation_p.D454H	p.D503H	NM_145755	NP_665698	Q8NDW8	TT21A_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0588)|Kidney(284;0.0738)	12	1684	+			503			TPR 7.		A1L388|B4DYF6|B4DYJ3|D3YTE7|D4PHA5|Q6P5W8|Q8N7G5|Q8NA02	Missense_Mutation	SNP	ENST00000431162.2	37	c.1507G>C	CCDS46800.1	.	.	.	.	.	.	.	.	.	.	G	15.79	2.935930	0.52972	.	.	ENSG00000168026	ENST00000301819;ENST00000424305;ENST00000431162;ENST00000440121	T;T;T	0.53640	1.13;0.61;0.61	5.6	4.73	0.59995	.	1.003280	0.08025	N	0.992635	T	0.59348	0.2187	L	0.47716	1.5	0.09310	N	0.999997	D;D;D	0.60160	0.987;0.983;0.971	P;P;P	0.57468	0.821;0.71;0.516	T	0.49881	-0.8892	10	0.48119	T	0.1	-5.5235	13.2799	0.60208	0.0774:0.0:0.9226:0.0	.	454;503;503	Q8NDW8-6;Q8NDW8-7;Q8NDW8	.;.;TT21A_HUMAN	H	503;485;503;454	ENSP00000301819:D503H;ENSP00000398211:D503H;ENSP00000410882:D454H	ENSP00000301819:D503H	D	+	1	0	TTC21A	39142846	0.430000	0.25538	0.069000	0.20011	0.756000	0.42949	1.575000	0.36493	1.376000	0.46267	0.609000	0.83330	GAC		PASS	0.542	TTC21A-021	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000377829.1	NM_145755		70	53	70	53	---	---	---	---
LARS2	23395	broad.mit.edu	37	3	45458977	45458977	+	Missense_Mutation	SNP	A	A	G			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr3:45458977A>G	ENST00000415258.1	+	4	508	c.367A>G	c.(367-369)Atc>Gtc	p.I123V	LARS2_ENST00000414984.1_Missense_Mutation_p.I80V|LARS2_ENST00000265537.3_Missense_Mutation_p.I123V			Q15031	SYLM_HUMAN	leucyl-tRNA synthetase 2, mitochondrial	123					gene expression (GO:0010467)|leucyl-tRNA aminoacylation (GO:0006429)|tRNA aminoacylation for protein translation (GO:0006418)	mitochondrial matrix (GO:0005759)	aminoacyl-tRNA editing activity (GO:0002161)|ATP binding (GO:0005524)|leucine-tRNA ligase activity (GO:0004823)	p.I123V(1)		endometrium(1)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	18				BRCA - Breast invasive adenocarcinoma(193;0.0122)|KIRC - Kidney renal clear cell carcinoma(197;0.0313)|Kidney(197;0.0372)	L-Leucine(DB00149)	GTCCTAGGTCATCAACCCCAT	0.458																																						uc003cop.1																			1	Substitution - Missense(1)		lung(1)	upper_aerodigestive_tract(1)|ovary(1)	2						c.(367-369)ATC>GTC		leucyl-tRNA synthetase 2, mitochondrial	L-Leucine(DB00149)						142.0	133.0	136.0					3																	45458977		2203	4300	6503	SO:0001583	missense	23395				leucyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|leucine-tRNA ligase activity	g.chr3:45458977A>G	AJ312685	CCDS2728.1	3p21.3	2012-10-26			ENSG00000011376	ENSG00000011376	6.1.1.4	"""Aminoacyl tRNA synthetases / Class I"""	17095	protein-coding gene	gene with protein product	"""leucine tRNA ligase 2, mitochondrial"""	604544				20194621, 15123417	Standard	NM_015340		Approved	KIAA0028, LEURS, MGC26121	uc003cop.1	Q15031	OTTHUMG00000133177	ENST00000415258.1:c.367A>G	3.37:g.45458977A>G	ENSP00000408576:p.Ile123Val					LARS2_uc010hit.1_Missense_Mutation_p.I80V	p.I123V	NM_015340	NP_056155	Q15031	SYLM_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.0122)|KIRC - Kidney renal clear cell carcinoma(197;0.0313)|Kidney(197;0.0372)	5	552	+			123						Missense_Mutation	SNP	ENST00000415258.1	37	c.367A>G	CCDS2728.1	.	.	.	.	.	.	.	.	.	.	A	15.99	2.996556	0.54147	.	.	ENSG00000011376	ENST00000265537;ENST00000415258;ENST00000414984;ENST00000431023	T;T;T;T	0.76578	-1.03;-1.03;-1.03;1.98	5.74	5.74	0.90152	Rossmann-like alpha/beta/alpha sandwich fold (1);Aminoacyl-tRNA synthetase, class Ia (1);	0.061408	0.64402	D	0.000005	T	0.68044	0.2958	N	0.25485	0.75	0.37053	D	0.897707	B;B	0.17038	0.02;0.02	B;B	0.17098	0.017;0.017	T	0.69694	-0.5076	10	0.87932	D	0	-28.992	13.5731	0.61858	1.0:0.0:0.0:0.0	.	80;123	E9PHM2;Q15031	.;SYLM_HUMAN	V	123;123;80;80	ENSP00000265537:I123V;ENSP00000408576:I123V;ENSP00000412893:I80V;ENSP00000406611:I80V	ENSP00000265537:I123V	I	+	1	0	LARS2	45433981	1.000000	0.71417	1.000000	0.80357	0.938000	0.57974	2.625000	0.46452	2.193000	0.70182	0.533000	0.62120	ATC		PASS	0.458	LARS2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345001.1	NM_015340		89	58	89	58	---	---	---	---
SMARCC1	6599	broad.mit.edu	37	3	47742767	47742767	+	Splice_Site	SNP	C	C	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr3:47742767C>A	ENST00000254480.5	-	11	1285		c.e11+1		SMARCC1_ENST00000425518.1_Splice_Site	NM_003074.3	NP_003065.3	Q92922	SMRC1_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 1						ATP-dependent chromatin remodeling (GO:0043044)|chromatin remodeling (GO:0006338)|insulin receptor signaling pathway (GO:0008286)|nervous system development (GO:0007399)|nucleosome disassembly (GO:0006337)|organ morphogenesis (GO:0009887)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|protein complex (GO:0043234)|SWI/SNF complex (GO:0016514)|XY body (GO:0001741)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|protein N-terminus binding (GO:0047485)|transcription coactivator activity (GO:0003713)	p.?(1)		breast(1)|endometrium(5)|kidney(2)|large_intestine(3)|lung(15)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	33				BRCA - Breast invasive adenocarcinoma(193;7.47e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00862)|Kidney(197;0.01)		AGAATACAAACCATTTTTGGG	0.398																																						uc003crq.2																			1	Unknown(1)		lung(1)	skin(2)|lung(1)	3						c.e11+1		SWI/SNF-related matrix-associated							154.0	142.0	146.0					3																	47742767		2203	4300	6503	SO:0001630	splice_region_variant	6599				chromatin remodeling|nervous system development|transcription, DNA-dependent	nBAF complex|npBAF complex|nucleoplasm|SWI/SNF complex|WINAC complex	DNA binding|protein N-terminus binding|transcription coactivator activity	g.chr3:47742767C>A	U66615	CCDS2758.1	3p21.31	2008-05-15			ENSG00000173473	ENSG00000173473			11104	protein-coding gene	gene with protein product		601732				8804307	Standard	NM_003074		Approved	BAF155, SRG3, Rsc8, CRACC1	uc003crq.2	Q92922	OTTHUMG00000133519	ENST00000254480.5:c.1165+1G>T	3.37:g.47742767C>A						SMARCC1_uc011bbd.1_Splice_Site_p.V280_splice	p.V389_splice	NM_003074	NP_003065	Q92922	SMRC1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;7.47e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00862)|Kidney(197;0.01)	11	1283	-								Q17RS0|Q6P172|Q8IWH2	Splice_Site	SNP	ENST00000254480.5	37	c.1165_splice	CCDS2758.1	.	.	.	.	.	.	.	.	.	.	C	23.4	4.406677	0.83230	.	.	ENSG00000173473	ENST00000254480	.	.	.	5.62	5.62	0.85841	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.6352	0.91376	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	SMARCC1	47717771	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.910000	0.75741	2.806000	0.96561	0.644000	0.83932	.		PASS	0.398	SMARCC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257491.1		Intron	54	46	54	46	---	---	---	---
PARP3	10039	broad.mit.edu	37	3	51978871	51978871	+	Silent	SNP	C	C	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr3:51978871C>T	ENST00000417220.2	+	6	1067	c.579C>T	c.(577-579)atC>atT	p.I193I	RRP9_ENST00000232888.6_5'Flank|PARP3_ENST00000431474.1_Silent_p.I193I|PARP3_ENST00000398755.3_Silent_p.I200I			Q9Y6F1	PARP3_HUMAN	poly (ADP-ribose) polymerase family, member 3	193	PARP alpha-helical. {ECO:0000255|PROSITE- ProRule:PRU00398}.				DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|positive regulation of DNA ligation (GO:0051106)|protein ADP-ribosylation (GO:0006471)|protein localization to site of double-strand break (GO:1990166)|regulation of mitotic spindle organization (GO:0060236)|telomere maintenance (GO:0000723)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)|site of double-strand break (GO:0035861)	catalytic activity (GO:0003824)|NAD+ ADP-ribosyltransferase activity (GO:0003950)	p.I200I(1)		ovary(1)	1				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000541)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)		AGAAGCTCATCACTAACATCT	0.607																																						uc003dby.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(577-579)ATC>ATT		poly (ADP-ribose) polymerase family, member 3							45.0	48.0	47.0					3																	51978871		2113	4256	6369	SO:0001819	synonymous_variant	10039				DNA repair|protein ADP-ribosylation	centriole|nucleus	NAD+ ADP-ribosyltransferase activity|protein binding	g.chr3:51978871C>T	AF083068	CCDS43097.1, CCDS46839.1	3p22.2-p21.1	2010-07-14	2004-08-20	2004-08-26	ENSG00000041880	ENSG00000041880	2.4.2.30	"""Poly (ADP-ribose) polymerases"""	273	protein-coding gene	gene with protein product	"""poly(ADP-ribose) synthetase-3"", ""NAD+ ADP-ribosyltransferase 3"", ""poly(ADP-ribose) polymerase 3"""	607726	"""ADP-ribosyltransferase (NAD+; poly (ADP-ribose) polymerase)-like 3"""	ADPRTL3		10329013	Standard	NM_001003931		Approved	ADPRT3, IRT1, hPARP-3, pADPRT-3	uc003dbz.3	Q9Y6F1	OTTHUMG00000156931	ENST00000417220.2:c.579C>T	3.37:g.51978871C>T						RRP9_uc003dbw.1_5'Flank|PARP3_uc003dbz.2_Silent_p.I200I	p.I193I	NM_005485	NP_005476	Q9Y6F1	PARP3_HUMAN		BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000541)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)	5	950	+			193			PARP alpha-helical.		Q8NER9|Q96CG2|Q9UG81	Silent	SNP	ENST00000417220.2	37	c.579C>T	CCDS43097.1																																																																																				PASS	0.607	PARP3-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000348612.2	NM_005485.4		23	20	23	20	---	---	---	---
DNAH1	25981	broad.mit.edu	37	3	52356484	52356484	+	Missense_Mutation	SNP	A	A	G	rs556372594		TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr3:52356484A>G	ENST00000420323.2	+	2	287	c.26A>G	c.(25-27)tAt>tGt	p.Y9C		NM_015512.4	NP_056327	Q9P2D7	DYH1_HUMAN	dynein, axonemal, heavy chain 1	9	Stem. {ECO:0000250}.				cilium movement (GO:0003341)|cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|response to mechanical stimulus (GO:0009612)	axonemal dynein complex (GO:0005858)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.Y9C(2)		cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1)	62				BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		AGTAAAGGCTATAGCCTGGGA	0.597													A|||	1	0.000199681	0.0008	0.0	5008	,	,		16694	0.0		0.0	False		,,,				2504	0.0					uc011bef.1																			2	Substitution - Missense(2)		lung(2)	large_intestine(3)	3						c.(25-27)TAT>TGT		dynein, axonemal, heavy chain 1							32.0	35.0	34.0					3																	52356484		1926	4148	6074	SO:0001583	missense	25981				ciliary or flagellar motility|microtubule-based movement|response to mechanical stimulus	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr3:52356484A>G	U61738	CCDS46842.1	3p21-p14	2008-02-05	2006-09-04		ENSG00000114841	ENSG00000114841		"""Axonemal dyneins"""	2940	protein-coding gene	gene with protein product		603332	"""dynein, axonemal, heavy polypeptide 1"""			8812413, 9256245	Standard	NM_015512		Approved	XLHSRF-1, DNAHC1, HDHC7, HL-11, HL11	uc011bef.2	Q9P2D7	OTTHUMG00000158378	ENST00000420323.2:c.26A>G	3.37:g.52356484A>G	ENSP00000401514:p.Tyr9Cys					DNAH1_uc003ddt.1_Missense_Mutation_p.Y9C	p.Y9C	NM_015512	NP_056327	Q9P2D7	DYH1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)	2	287	+			9			Stem (By similarity).		B0I1R6|O00436|O15435|O95491|Q6ZU48|Q86YK7|Q8TEJ4|Q92863|Q9H8E6|Q9UFW6|Q9Y4Z7	Missense_Mutation	SNP	ENST00000420323.2	37	c.26A>G	CCDS46842.1	.	.	.	.	.	.	.	.	.	.	A	4.376	0.069359	0.08436	.	.	ENSG00000114841	ENST00000420323	T	0.19532	2.14	3.06	-4.8	0.03190	.	9.102740	0.00166	N	0.000006	T	0.09024	0.0223	N	0.08118	0	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.13899	-1.0492	10	0.38643	T	0.18	.	0.9137	0.01300	0.3475:0.2923:0.2126:0.1476	.	9;9	C9JXH6;Q9P2D7-3	.;.	C	9	ENSP00000401514:Y9C	ENSP00000401514:Y9C	Y	+	2	0	DNAH1	52331524	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.167000	0.03126	-1.232000	0.02554	-1.160000	0.01791	TAT		PASS	0.597	DNAH1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350816.1	NM_015512		14	16	14	16	---	---	---	---
STAB1	23166	broad.mit.edu	37	3	52544007	52544007	+	Silent	SNP	G	G	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr3:52544007G>A	ENST00000321725.6	+	23	2545	c.2469G>A	c.(2467-2469)ggG>ggA	p.G823G		NM_015136.2	NP_055951.2	Q9NY15	STAB1_HUMAN	stabilin 1	823	EGF-like 6. {ECO:0000255|PROSITE- ProRule:PRU00076, ECO:0000305}.				cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)|defense response to bacterium (GO:0042742)|inflammatory response (GO:0006954)|negative regulation of angiogenesis (GO:0016525)|oxidation-reduction process (GO:0055114)|receptor-mediated endocytosis (GO:0006898)	endocytic vesicle membrane (GO:0030666)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	hyaluronic acid binding (GO:0005540)|low-density lipoprotein particle binding (GO:0030169)|low-density lipoprotein receptor activity (GO:0005041)|protein disulfide oxidoreductase activity (GO:0015035)|scavenger receptor activity (GO:0005044)	p.G823G(1)		breast(4)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(13)|liver(1)|lung(27)|ovary(1)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	76				BRCA - Breast invasive adenocarcinoma(193;1.73e-05)|Kidney(197;0.00182)|KIRC - Kidney renal clear cell carcinoma(197;0.00205)|OV - Ovarian serous cystadenocarcinoma(275;0.0482)		GGGACTGTGGGCCCACAGGGC	0.677																																						uc003dej.2																			1	Substitution - coding silent(1)		lung(1)	large_intestine(3)|upper_aerodigestive_tract(2)|central_nervous_system(1)|breast(1)|skin(1)|pancreas(1)	9						c.(2467-2469)GGG>GGA		stabilin 1 precursor							55.0	59.0	57.0					3																	52544007		2203	4298	6501	SO:0001819	synonymous_variant	23166				cell adhesion|cell-cell signaling|defense response to bacterium|inflammatory response|negative regulation of angiogenesis|receptor-mediated endocytosis	integral to plasma membrane	bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity	g.chr3:52544007G>A	AJ275213	CCDS33768.1	3p21.31	2008-07-18			ENSG00000010327	ENSG00000010327			18628	protein-coding gene	gene with protein product	"""MS-1 antigen"", ""fasciclin egf-like, laminin-type egf-like, and link domain-containing scavenger receptor-1"", ""common lymphatic endothelial and vascular endothelial receptor-1"""	608560				11829752, 12077138	Standard	XM_005264973		Approved	KIAA0246, STAB-1, FEEL-1, CLEVER-1, FELE-1, FEX1	uc003dej.3	Q9NY15	OTTHUMG00000158574	ENST00000321725.6:c.2469G>A	3.37:g.52544007G>A							p.G823G	NM_015136	NP_055951	Q9NY15	STAB1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;1.73e-05)|Kidney(197;0.00182)|KIRC - Kidney renal clear cell carcinoma(197;0.00205)|OV - Ovarian serous cystadenocarcinoma(275;0.0482)	23	2543	+			823			EGF-like 6.|Extracellular (Potential).		A7E297|Q8IUH0|Q8IUH1|Q93072	Silent	SNP	ENST00000321725.6	37	c.2469G>A	CCDS33768.1																																																																																				PASS	0.677	STAB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351380.2	NM_015136		54	43	54	43	---	---	---	---
ITIH4	3700	broad.mit.edu	37	3	52855104	52855104	+	Missense_Mutation	SNP	C	C	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr3:52855104C>T	ENST00000266041.4	-	12	1678	c.1582G>A	c.(1582-1584)Gag>Aag	p.E528K	ITIH4_ENST00000485816.1_Missense_Mutation_p.E528K|ITIH4_ENST00000434759.3_Missense_Mutation_p.E440K|RP5-966M1.6_ENST00000468472.1_3'UTR|ITIH4_ENST00000467462.1_5'UTR|ITIH4_ENST00000406595.1_Missense_Mutation_p.E528K|ITIH4-AS1_ENST00000478366.1_RNA|ITIH4_ENST00000346281.5_Missense_Mutation_p.E528K	NM_002218.4	NP_002209.2	Q14624	ITIH4_HUMAN	inter-alpha-trypsin inhibitor heavy chain family, member 4	528					acute-phase response (GO:0006953)|hyaluronan metabolic process (GO:0030212)|negative regulation of endopeptidase activity (GO:0010951)|response to cytokine (GO:0034097)	blood microparticle (GO:0072562)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	endopeptidase inhibitor activity (GO:0004866)|serine-type endopeptidase inhibitor activity (GO:0004867)	p.E528K(1)		autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(9)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	30				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)		GCCTCCTGCTCTGCCACACTG	0.577											OREG0015616	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc003dfz.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|central_nervous_system(1)	3						c.(1582-1584)GAG>AAG		inter-alpha (globulin) inhibitor H4							104.0	104.0	104.0					3																	52855104		2203	4300	6503	SO:0001583	missense	3700				acute-phase response|hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity	g.chr3:52855104C>T	D38535	CCDS2865.1, CCDS54596.1	3p21.1	2011-10-26	2011-10-26		ENSG00000055955	ENSG00000055955			6169	protein-coding gene	gene with protein product	"""plasma Kallikrein-sensitive glycoprotein"""	600564	"""inter-alpha (globulin) inhibitor H4 (plasma Kallikrein-sensitive glycoprotein)"""	ITIHL1		9480842, 7805892	Standard	NM_002218		Approved	IHRP, H4P	uc003dfz.3	Q14624	OTTHUMG00000159023	ENST00000266041.4:c.1582G>A	3.37:g.52855104C>T	ENSP00000266041:p.Glu528Lys		OREG0015616	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	988	ITIH4_uc011bel.1_Missense_Mutation_p.E258K|ITIH4_uc003dfy.2_Missense_Mutation_p.E392K|ITIH4_uc011bem.1_Missense_Mutation_p.E528K|ITIH4_uc011ben.1_Missense_Mutation_p.E528K	p.E528K	NM_002218	NP_002209	Q14624	ITIH4_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)	12	1618	-			528					B7Z545|E9PGN5|Q15135|Q9P190|Q9UQ54	Missense_Mutation	SNP	ENST00000266041.4	37	c.1582G>A	CCDS2865.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	12.70|12.70	2.017696|2.017696	0.35606|0.35606	.|.	.|.	ENSG00000055955|ENSG00000055955	ENST00000266041;ENST00000346281;ENST00000485816;ENST00000406595;ENST00000538421;ENST00000434759|ENST00000441637	T;T;T;T;T|.	0.14144|.	2.53;2.53;2.53;2.53;2.53|.	4.53|4.53	1.51|1.51	0.23008|0.23008	.|.	0.282235|.	0.28809|.	N|.	0.014066|.	T|T	0.55625|0.55625	0.1932|0.1932	L|L	0.53780|0.53780	1.695|1.695	0.80722|0.80722	D|D	1|1	B;B;B;B|.	0.20261|.	0.009;0.019;0.009;0.043|.	B;B;B;B|.	0.21546|.	0.006;0.035;0.015;0.029|.	T|T	0.44314|0.44314	-0.9336|-0.9336	10|5	0.45353|.	T|.	0.12|.	-10.3832|-10.3832	7.0598|7.0598	0.25119|0.25119	0.0:0.6509:0.1839:0.1652|0.0:0.6509:0.1839:0.1652	.|.	528;528;528;528|.	E9PGN5;B7ZKJ8;Q14624;Q14624-2|.	.;.;ITIH4_HUMAN;.|.	K|K	528;528;528;528;516;440|385	ENSP00000266041:E528K;ENSP00000340520:E528K;ENSP00000417824:E528K;ENSP00000384425:E528K;ENSP00000440036:E440K|.	ENSP00000266041:E528K|.	E|R	-|-	1|2	0|0	ITIH4|ITIH4	52830144|52830144	0.174000|0.174000	0.23070|0.23070	0.050000|0.050000	0.19076|0.19076	0.424000|0.424000	0.31475|0.31475	0.643000|0.643000	0.24750|0.24750	-0.031000|-0.031000	0.13781|0.13781	0.555000|0.555000	0.69702|0.69702	GAG|AGA		PASS	0.577	ITIH4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000317715.1	NM_002218		94	70	94	70	---	---	---	---
FLNB	2317	broad.mit.edu	37	3	58131689	58131689	+	Missense_Mutation	SNP	A	A	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr3:58131689A>T	ENST00000295956.4	+	33	5632	c.5467A>T	c.(5467-5469)Agt>Tgt	p.S1823C	FLNB_ENST00000493452.1_Missense_Mutation_p.S1630C|FLNB_ENST00000357272.4_Missense_Mutation_p.S1823C|FLNB_ENST00000358537.3_Missense_Mutation_p.S1799C|FLNB_ENST00000348383.5_Missense_Mutation_p.S1823C|FLNB_ENST00000429972.2_Missense_Mutation_p.S1812C|FLNB_ENST00000490882.1_Missense_Mutation_p.S1854C|FLNB_ENST00000419752.2_Missense_Mutation_p.S1643C	NM_001457.3	NP_001448.2	O75369	FLNB_HUMAN	filamin B, beta	1823					actin cytoskeleton organization (GO:0030036)|cell differentiation (GO:0030154)|cytokine-mediated signaling pathway (GO:0019221)|cytoskeletal anchoring at plasma membrane (GO:0007016)|signal transduction (GO:0007165)|skeletal muscle tissue development (GO:0007519)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|stress fiber (GO:0001725)	actin binding (GO:0003779)|identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)	p.S1854C(1)|p.S1823C(1)		NS(1)|breast(13)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(23)|liver(2)|lung(38)|ovary(6)|prostate(3)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(5)	120				BRCA - Breast invasive adenocarcinoma(55;0.000335)|KIRC - Kidney renal clear cell carcinoma(284;0.0726)|Kidney(284;0.0898)		CAACAGTGGAAGTGTTTCTGC	0.507																																						uc003djj.2																			2	Substitution - Missense(2)		lung(2)	breast(8)|ovary(5)|lung(3)|skin(2)|central_nervous_system(1)	19						c.(5467-5469)AGT>TGT		filamin B isoform 2							219.0	183.0	195.0					3																	58131689		2203	4300	6503	SO:0001583	missense	2317				actin cytoskeleton organization|cell differentiation|cytoskeletal anchoring at plasma membrane|signal transduction	cell cortex|integral to membrane|nucleus|sarcomere	actin binding	g.chr3:58131689A>T	AF043045	CCDS2885.1, CCDS54599.1, CCDS54600.1, CCDS54601.1	3p14.3	2011-02-11	2009-07-23		ENSG00000136068	ENSG00000136068			3755	protein-coding gene	gene with protein product	"""actin binding protein 278"""	603381	"""filamin B, beta (actin binding protein 278)"", ""Larsen syndrome 1 (autosomal dominant)"""	FLN1L, LRS1		8327473, 10449914, 14991055, 16801345	Standard	NM_001457		Approved	TAP, TABP, ABP-278, FH1	uc010hne.2	O75369	OTTHUMG00000159158	ENST00000295956.4:c.5467A>T	3.37:g.58131689A>T	ENSP00000295956:p.Ser1823Cys					FLNB_uc010hne.2_Missense_Mutation_p.S1854C|FLNB_uc003djk.2_Missense_Mutation_p.S1812C|FLNB_uc010hnf.2_Missense_Mutation_p.S1799C|FLNB_uc003djl.2_Missense_Mutation_p.S1643C|FLNB_uc003djm.2_Missense_Mutation_p.S1630C	p.S1823C	NM_001457	NP_001448	O75369	FLNB_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.000335)|KIRC - Kidney renal clear cell carcinoma(284;0.0726)|Kidney(284;0.0898)	33	5632	+			1823			Filamin 17.		B2ZZ83|B2ZZ84|B2ZZ85|C9JKE6|C9JMC4|Q13706|Q59EC2|Q60FE7|Q6MZJ1|Q8WXS9|Q8WXT0|Q8WXT1|Q8WXT2|Q8WXT3|Q9NRB5|Q9NT26|Q9UEV9	Missense_Mutation	SNP	ENST00000295956.4	37	c.5467A>T	CCDS2885.1	.	.	.	.	.	.	.	.	.	.	A	19.90	3.912603	0.72983	.	.	ENSG00000136068	ENST00000295956;ENST00000490882;ENST00000358537;ENST00000429972;ENST00000348383;ENST00000357272;ENST00000493452;ENST00000419752	D;D;D;D;D;D;D;D	0.84944	-1.92;-1.92;-1.92;-1.92;-1.92;-1.92;-1.92;-1.92	5.24	5.24	0.73138	Immunoglobulin-like fold (1);	0.074410	0.85682	D	0.000000	D	0.89015	0.6595	L	0.42245	1.32	0.53688	D	0.999975	D;D;D;P;D;D	0.69078	0.992;0.995;0.98;0.892;0.997;0.997	D;D;D;P;D;D	0.69479	0.919;0.913;0.934;0.615;0.964;0.964	D	0.90172	0.4236	10	0.72032	D	0.01	.	15.1682	0.72846	1.0:0.0:0.0:0.0	.	1799;1854;1630;1643;1812;1823	O75369-2;B2ZZ83;E7EN95;O75369-7;Q60FE7;O75369	.;.;.;.;.;FLNB_HUMAN	C	1823;1854;1799;1812;1823;1823;1630;1643	ENSP00000295956:S1823C;ENSP00000420213:S1854C;ENSP00000351339:S1799C;ENSP00000415599:S1812C;ENSP00000232447:S1823C;ENSP00000349819:S1823C;ENSP00000418510:S1630C;ENSP00000414532:S1643C	ENSP00000295956:S1823C	S	+	1	0	FLNB	58106729	0.995000	0.38212	0.998000	0.56505	0.882000	0.50991	5.889000	0.69766	1.977000	0.57605	0.533000	0.62120	AGT		PASS	0.507	FLNB-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000353569.1	NM_001457		73	67	73	67	---	---	---	---
PRICKLE2	166336	broad.mit.edu	37	3	64138884	64138884	+	Missense_Mutation	SNP	T	T	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr3:64138884T>A	ENST00000295902.6	-	6	1346	c.761A>T	c.(760-762)tAt>tTt	p.Y254F	PRICKLE2_ENST00000564377.1_Missense_Mutation_p.Y310F	NM_198859.3	NP_942559.1	Q7Z3G6	PRIC2_HUMAN	prickle homolog 2 (Drosophila)	254	LIM zinc-binding 3. {ECO:0000255|PROSITE- ProRule:PRU00125}.				establishment or maintenance of epithelial cell apical/basal polarity (GO:0045197)|neuron projection development (GO:0031175)	apicolateral plasma membrane (GO:0016327)|cytoplasm (GO:0005737)|lateral plasma membrane (GO:0016328)|nucleus (GO:0005634)	zinc ion binding (GO:0008270)	p.Y254F(1)		breast(2)|endometrium(1)|large_intestine(9)|liver(1)|lung(10)|ovary(4)|prostate(2)|skin(2)|stomach(1)	32		Lung NSC(201;0.136)		BRCA - Breast invasive adenocarcinoma(55;0.000971)|KIRC - Kidney renal clear cell carcinoma(15;0.00443)|Kidney(15;0.00497)		GGTGTCACAATATTCTGCATA	0.498																																						uc003dmf.2																			1	Substitution - Missense(1)		lung(1)	ovary(4)|skin(1)	5						c.(760-762)TAT>TTT		prickle-like 2							176.0	163.0	167.0					3																	64138884		2203	4300	6503	SO:0001583	missense	166336					cytoplasm|nuclear membrane	zinc ion binding	g.chr3:64138884T>A	AK127839	CCDS2902.1	3p14.3	2006-09-12	2006-09-12		ENSG00000163637	ENSG00000163637			20340	protein-coding gene	gene with protein product		608501	"""prickle-like 2 (Drosophila)"""			12525887	Standard	NM_198859		Approved	DKFZp686D143	uc003dmf.3	Q7Z3G6	OTTHUMG00000158789	ENST00000295902.6:c.761A>T	3.37:g.64138884T>A	ENSP00000295902:p.Tyr254Phe						p.Y254F	NM_198859	NP_942559	Q7Z3G6	PRIC2_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.000971)|KIRC - Kidney renal clear cell carcinoma(15;0.00443)|Kidney(15;0.00497)	6	1347	-		Lung NSC(201;0.136)	254			LIM zinc-binding 3.		Q0VF44	Missense_Mutation	SNP	ENST00000295902.6	37	c.761A>T	CCDS2902.1	.	.	.	.	.	.	.	.	.	.	T	21.3	4.135743	0.77662	.	.	ENSG00000163637	ENST00000295902	D	0.86956	-2.19	5.65	5.65	0.86999	Zinc finger, LIM-type (2);	0.000000	0.64402	D	0.000006	D	0.89757	0.6807	M	0.81239	2.535	0.80722	D	1	B	0.29571	0.249	B	0.37480	0.251	D	0.89203	0.3559	10	0.62326	D	0.03	-26.1612	16.1778	0.81874	0.0:0.0:0.0:1.0	.	254	Q7Z3G6	PRIC2_HUMAN	F	254	ENSP00000295902:Y254F	ENSP00000295902:Y254F	Y	-	2	0	PRICKLE2	64113924	1.000000	0.71417	0.997000	0.53966	0.880000	0.50808	6.253000	0.72453	2.279000	0.76181	0.533000	0.62120	TAT		PASS	0.498	PRICKLE2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000352219.1	NM_198859		98	93	98	93	---	---	---	---
SHQ1	55164	broad.mit.edu	37	3	72891501	72891501	+	Silent	SNP	C	C	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr3:72891501C>A	ENST00000325599.8	-	3	400	c.261G>T	c.(259-261)ggG>ggT	p.G87G	SHQ1_ENST00000463369.1_Silent_p.G59G	NM_018130.2	NP_060600.2	Q6PI26	SHQ1_HUMAN	SHQ1, H/ACA ribonucleoprotein assembly factor	87	CS. {ECO:0000255|PROSITE- ProRule:PRU00547}.				negative regulation of rRNA processing (GO:2000233)|positive regulation of apoptotic process (GO:0043065)|ribonucleoprotein complex assembly (GO:0022618)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)		p.G87G(1)		NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	27		Prostate(10;0.00482)|Lung NSC(201;0.0339)|Myeloproliferative disorder(1037;0.204)		BRCA - Breast invasive adenocarcinoma(55;9.68e-05)|Epithelial(33;0.000563)|LUSC - Lung squamous cell carcinoma(21;0.00229)|Lung(16;0.00688)|KIRC - Kidney renal clear cell carcinoma(39;0.018)|Kidney(39;0.0213)		ACATGTTCAGCCCCTCAAAAT	0.373																																						uc003dpf.2																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|large_intestine(1)	3						c.(259-261)GGG>GGT		SHQ1 homolog							96.0	96.0	96.0					3																	72891501		2203	4300	6503	SO:0001819	synonymous_variant	55164				ribonucleoprotein complex assembly	cytosol|nucleoplasm	protein binding	g.chr3:72891501C>A	BC025270	CCDS33788.1	3p13	2013-01-08	2013-01-08		ENSG00000144736	ENSG00000144736			25543	protein-coding gene	gene with protein product		613663	"""SHQ1 homolog (S. cerevisiae)"""			12477932	Standard	NM_018130		Approved	FLJ10539, Shq1p	uc003dpf.3	Q6PI26	OTTHUMG00000158814	ENST00000325599.8:c.261G>T	3.37:g.72891501C>A						SHQ1_uc010hod.2_5'UTR	p.G87G	NM_018130	NP_060600	Q6PI26	SHQ1_HUMAN		BRCA - Breast invasive adenocarcinoma(55;9.68e-05)|Epithelial(33;0.000563)|LUSC - Lung squamous cell carcinoma(21;0.00229)|Lung(16;0.00688)|KIRC - Kidney renal clear cell carcinoma(39;0.018)|Kidney(39;0.0213)	3	368	-		Prostate(10;0.00482)|Lung NSC(201;0.0339)|Myeloproliferative disorder(1037;0.204)	87			CS.		B4DL05|Q6MZJ4|Q7Z748|Q9H7E5|Q9NVS8	Silent	SNP	ENST00000325599.8	37	c.261G>T	CCDS33788.1																																																																																				PASS	0.373	SHQ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352310.1	NM_018130		4	113	4	113	---	---	---	---
VGLL3	389136	broad.mit.edu	37	3	87027808	87027808	+	Missense_Mutation	SNP	A	A	G			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr3:87027808A>G	ENST00000398399.2	-	2	634	c.271T>C	c.(271-273)Ttc>Ctc	p.F91L	VGLL3_ENST00000383698.3_Missense_Mutation_p.F91L	NM_016206.2	NP_057290.2			vestigial-like family member 3									p.F91L(1)		NS(1)|breast(1)|endometrium(4)|large_intestine(2)|lung(11)	19	all_cancers(8;0.109)|Lung SC(3;0.184)	Lung NSC(201;0.0777)		LUSC - Lung squamous cell carcinoma(29;0.00241)|Lung(72;0.00712)		AAATAAGTGAAAAGGACACAG	0.512																																						uc003dqn.2																			1	Substitution - Missense(1)		lung(1)		0						c.(271-273)TTC>CTC		colon carcinoma related protein							90.0	92.0	91.0					3																	87027808		2073	4231	6304	SO:0001583	missense	389136				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus		g.chr3:87027808A>G	AF099505	CCDS43110.1	3p12.1	2014-03-03	2014-03-03		ENSG00000206538	ENSG00000206538			24327	protein-coding gene	gene with protein product		609980	"""vestigial like 3 (Drosophila)"""			12376544	Standard	NM_016206		Approved	VGL-3	uc003dqn.3	A8MV65	OTTHUMG00000158984	ENST00000398399.2:c.271T>C	3.37:g.87027808A>G	ENSP00000381436:p.Phe91Leu						p.F91L	NM_016206	NP_057290	A8MV65	VGLL3_HUMAN		LUSC - Lung squamous cell carcinoma(29;0.00241)|Lung(72;0.00712)	2	635	-	all_cancers(8;0.109)|Lung SC(3;0.184)	Lung NSC(201;0.0777)	91						Missense_Mutation	SNP	ENST00000398399.2	37	c.271T>C	CCDS43110.1	.	.	.	.	.	.	.	.	.	.	A	25.0	4.596519	0.86953	.	.	ENSG00000206538	ENST00000398399;ENST00000383698	T;T	0.66638	-0.18;-0.22	5.14	5.14	0.70334	.	0.000000	0.85682	D	0.000000	T	0.78323	0.4265	L	0.53729	1.69	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.80783	-0.1228	10	0.87932	D	0	-5.4617	14.9683	0.71213	1.0:0.0:0.0:0.0	.	91	A8MV65	VGLL3_HUMAN	L	91	ENSP00000381436:F91L;ENSP00000373199:F91L	ENSP00000373199:F91L	F	-	1	0	VGLL3	87110498	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.142000	0.77339	1.937000	0.56155	0.533000	0.62120	TTC		PASS	0.512	VGLL3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000352805.1	NM_016206		47	40	47	40	---	---	---	---
VGLL3	389136	broad.mit.edu	37	3	87027868	87027868	+	Missense_Mutation	SNP	C	C	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr3:87027868C>T	ENST00000398399.2	-	2	574	c.211G>A	c.(211-213)Gag>Aag	p.E71K	VGLL3_ENST00000383698.3_Missense_Mutation_p.E71K	NM_016206.2	NP_057290.2			vestigial-like family member 3									p.E71K(1)		NS(1)|breast(1)|endometrium(4)|large_intestine(2)|lung(11)	19	all_cancers(8;0.109)|Lung SC(3;0.184)	Lung NSC(201;0.0777)		LUSC - Lung squamous cell carcinoma(29;0.00241)|Lung(72;0.00712)		tcctcctcctcctcctcctca	0.502																																						uc003dqn.2																			1	Substitution - Missense(1)		lung(1)		0						c.(211-213)GAG>AAG		colon carcinoma related protein							57.0	60.0	59.0					3																	87027868		2093	4237	6330	SO:0001583	missense	389136				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus		g.chr3:87027868C>T	AF099505	CCDS43110.1	3p12.1	2014-03-03	2014-03-03		ENSG00000206538	ENSG00000206538			24327	protein-coding gene	gene with protein product		609980	"""vestigial like 3 (Drosophila)"""			12376544	Standard	NM_016206		Approved	VGL-3	uc003dqn.3	A8MV65	OTTHUMG00000158984	ENST00000398399.2:c.211G>A	3.37:g.87027868C>T	ENSP00000381436:p.Glu71Lys						p.E71K	NM_016206	NP_057290	A8MV65	VGLL3_HUMAN		LUSC - Lung squamous cell carcinoma(29;0.00241)|Lung(72;0.00712)	2	575	-	all_cancers(8;0.109)|Lung SC(3;0.184)	Lung NSC(201;0.0777)	71						Missense_Mutation	SNP	ENST00000398399.2	37	c.211G>A	CCDS43110.1	.	.	.	.	.	.	.	.	.	.	C	12.21	1.868476	0.32977	.	.	ENSG00000206538	ENST00000398399;ENST00000383698	T;T	0.45276	0.93;0.9	4.92	4.92	0.64577	.	0.838091	0.10760	N	0.637221	T	0.32704	0.0838	N	0.19112	0.55	0.40782	D	0.983189	P	0.52577	0.954	P	0.47206	0.541	T	0.03043	-1.1079	10	0.06494	T	0.89	-9.2165	13.6215	0.62140	0.0:1.0:0.0:0.0	.	71	A8MV65	VGLL3_HUMAN	K	71	ENSP00000381436:E71K;ENSP00000373199:E71K	ENSP00000373199:E71K	E	-	1	0	VGLL3	87110558	1.000000	0.71417	0.968000	0.41197	0.932000	0.56968	2.698000	0.47068	2.262000	0.75019	0.655000	0.94253	GAG		PASS	0.502	VGLL3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000352805.1	NM_016206		28	22	28	22	---	---	---	---
MINA	84864	broad.mit.edu	37	3	97677934	97677934	+	Silent	SNP	C	C	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr3:97677934C>T	ENST00000333396.7	-	4	1224	c.642G>A	c.(640-642)gaG>gaA	p.E214E	MINA_ENST00000360258.4_Silent_p.E214E|MINA_ENST00000330299.2_Silent_p.E214E|MINA_ENST00000394198.2_Silent_p.E214E	NM_001042533.2|NM_032778.5	NP_001035998.1|NP_116167.3			MYC induced nuclear antigen									p.E214E(1)		breast(2)|endometrium(1)|large_intestine(1)|lung(8)|ovary(1)	13						CGATCCTTTCCTCGGCCTCCA	0.552																																						uc003drz.1																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(640-642)GAG>GAA		MYC induced nuclear antigen isoform a							94.0	74.0	81.0					3																	97677934		2203	4300	6503	SO:0001819	synonymous_variant	84864				ribosome biogenesis	cytoplasm|nucleolus		g.chr3:97677934C>T	AB083189	CCDS2929.1, CCDS43114.1	3q22.1	2005-07-22			ENSG00000170854	ENSG00000170854			19441	protein-coding gene	gene with protein product		612049				12091391	Standard	NM_001042533		Approved	MINA53, FLJ14393, mdig	uc003dsb.1	Q8IUF8	OTTHUMG00000160107	ENST00000333396.7:c.642G>A	3.37:g.97677934C>T						MINA_uc003dsa.1_Silent_p.E214E|MINA_uc003dsb.1_Silent_p.E214E|MINA_uc003dsc.1_Silent_p.E214E|MINA_uc010hpa.1_RNA|MINA_uc010hpb.1_RNA	p.E214E	NM_001042533	NP_001035998	Q8IUF8	MINA_HUMAN			4	1148	-			214			JmjC.			Silent	SNP	ENST00000333396.7	37	c.642G>A	CCDS43114.1																																																																																				PASS	0.552	MINA-002	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000359244.3	NM_032778		28	21	28	21	---	---	---	---
OR5K3	403277	broad.mit.edu	37	3	98109766	98109766	+	Missense_Mutation	SNP	T	T	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr3:98109766T>A	ENST00000383695.1	+	1	257	c.257T>A	c.(256-258)tTt>tAt	p.F86Y	RP11-325B23.2_ENST00000508616.1_lincRNA	NM_001005516.1	NP_001005516.1	A6NET4	OR5K3_HUMAN	olfactory receptor, family 5, subfamily K, member 3	86						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.F86Y(1)		NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(15)|prostate(1)|skin(1)|urinary_tract(1)	27						GAGAACTTCTTTTCTGAGGAC	0.413																																						uc011bgw.1																			1	Substitution - Missense(1)		lung(1)		0						c.(256-258)TTT>TAT		olfactory receptor, family 5, subfamily K,							253.0	252.0	253.0					3																	98109766		2203	4300	6503	SO:0001583	missense	403277				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr3:98109766T>A		CCDS33803.1	3q11.2	2013-09-23			ENSG00000206536	ENSG00000206536		"""GPCR / Class A : Olfactory receptors"""	31290	protein-coding gene	gene with protein product							Standard	NM_001005516		Approved		uc011bgw.2	A6NET4	OTTHUMG00000160077	ENST00000383695.1:c.257T>A	3.37:g.98109766T>A	ENSP00000373194:p.Phe86Tyr						p.F86Y	NM_001005516	NP_001005516	A6NET4	OR5K3_HUMAN			1	257	+			86			Extracellular (Potential).			Missense_Mutation	SNP	ENST00000383695.1	37	c.257T>A	CCDS33803.1	.	.	.	.	.	.	.	.	.	.	T	17.53	3.412087	0.62511	.	.	ENSG00000206536	ENST00000383695	T	0.02015	4.5	5.35	4.17	0.49024	GPCR, rhodopsin-like superfamily (1);	0.149436	0.31450	N	0.007636	T	0.05593	0.0147	L	0.56280	1.765	0.25957	N	0.982676	D	0.65815	0.995	P	0.52598	0.703	T	0.11916	-1.0568	10	0.87932	D	0	-56.6284	10.1525	0.42803	0.1496:0.0:0.0:0.8504	.	86	A6NET4	OR5K3_HUMAN	Y	86	ENSP00000373194:F86Y	ENSP00000373194:F86Y	F	+	2	0	OR5K3	99592456	0.934000	0.31675	1.000000	0.80357	0.457000	0.32468	5.393000	0.66279	0.932000	0.37266	-0.416000	0.06073	TTT		PASS	0.413	OR5K3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359110.1			280	186	280	186	---	---	---	---
CCDC54	84692	broad.mit.edu	37	3	107097325	107097325	+	Silent	SNP	T	T	G			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr3:107097325T>G	ENST00000261058.1	+	1	1138	c.891T>G	c.(889-891)acT>acG	p.T297T		NM_032600.2	NP_115989.1	Q8NEL0	CCD54_HUMAN	coiled-coil domain containing 54	297								p.T297T(1)		NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	19						GTCCATTCACTGGGCCCATTT	0.423																																						uc003dwi.1																			1	Substitution - coding silent(1)		lung(1)		0						c.(889-891)ACT>ACG		coiled-coil domain containing 54							84.0	90.0	88.0					3																	107097325		2199	4296	6495	SO:0001819	synonymous_variant	84692							g.chr3:107097325T>G	AF367469	CCDS2949.1	3q13.12	2013-10-11			ENSG00000138483	ENSG00000138483			30703	protein-coding gene	gene with protein product	"""sperm protein 17"""					15257753	Standard	NM_032600		Approved	NYD-SP17, FLJ25362, SP17	uc003dwi.1	Q8NEL0	OTTHUMG00000159169	ENST00000261058.1:c.891T>G	3.37:g.107097325T>G							p.T297T	NM_032600	NP_115989	Q8NEL0	CCD54_HUMAN			1	1138	+			297					Q96A43	Silent	SNP	ENST00000261058.1	37	c.891T>G	CCDS2949.1																																																																																				PASS	0.423	CCDC54-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353651.1	NM_032600		92	59	92	59	---	---	---	---
PLCXD2	257068	broad.mit.edu	37	3	111426998	111426998	+	Missense_Mutation	SNP	T	T	C			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr3:111426998T>C	ENST00000477665.1	+	2	713	c.389T>C	c.(388-390)tTc>tCc	p.F130S	PLCXD2_ENST00000393934.3_Missense_Mutation_p.F130S	NM_001185106.1	NP_001172035.1	Q0VAA5	PLCX2_HUMAN	phosphatidylinositol-specific phospholipase C, X domain containing 2	130	PI-PLC X-box. {ECO:0000255|PROSITE- ProRule:PRU00270}.				lipid catabolic process (GO:0016042)		phosphoric diester hydrolase activity (GO:0008081)|signal transducer activity (GO:0004871)	p.F130S(1)		endometrium(1)|large_intestine(5)|lung(9)|prostate(1)|skin(1)	17						GAGATCTACTTCATCCATGGG	0.502																																						uc003dya.2																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(388-390)TTC>TCC		phosphatidylinositol-specific phospholipase C, X							128.0	124.0	125.0					3																	111426998		2203	4300	6503	SO:0001583	missense	257068				intracellular signal transduction|lipid catabolic process		phospholipase C activity|signal transducer activity	g.chr3:111426998T>C	AK056141	CCDS2961.1, CCDS54619.1	3q13.2	2004-09-09			ENSG00000240891	ENSG00000240891			26462	protein-coding gene	gene with protein product							Standard	NM_001185106		Approved	FLJ31579	uc003dxz.3	Q0VAA5	OTTHUMG00000159279	ENST00000477665.1:c.389T>C	3.37:g.111426998T>C	ENSP00000420686:p.Phe130Ser					PLCXD2_uc003dyb.2_Missense_Mutation_p.F130S|PLCXD2_uc003dxz.2_Missense_Mutation_p.F130S	p.F130S	NM_001134478	NP_001127950	Q0VAA5	PLCX2_HUMAN			2	975	+			130			PI-PLC X-box.		Q96N12	Missense_Mutation	SNP	ENST00000477665.1	37	c.389T>C	CCDS54619.1	.	.	.	.	.	.	.	.	.	.	T	25.3	4.621105	0.87460	.	.	ENSG00000240891	ENST00000393934;ENST00000477665;ENST00000468174	T;T	0.62788	-0.0;-0.0	5.77	5.77	0.91146	PLC-like phosphodiesterase, TIM beta/alpha-barrel domain (2);Phospholipase C, phosphatidylinositol-specific , X domain (2);	.	.	.	.	T	0.78997	0.4372	M	0.81942	2.565	0.58432	D	0.999997	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.91635	0.996;0.999;0.997	T	0.78206	-0.2294	9	0.33141	T	0.24	-23.2124	14.3292	0.66541	0.0:0.0:0.0:1.0	.	40;130;130	C9JB87;Q0VAA5;Q0VAA5-2	.;PLCX2_HUMAN;.	S	130;130;40	ENSP00000377511:F130S;ENSP00000420686:F130S	ENSP00000377511:F130S	F	+	2	0	PLCXD2	112909688	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.622000	0.83099	2.326000	0.78906	0.533000	0.62120	TTC		PASS	0.502	PLCXD2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000354322.1	NM_153268		153	73	153	73	---	---	---	---
CD200R1L	344807	broad.mit.edu	37	3	112546014	112546014	+	Missense_Mutation	SNP	C	C	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr3:112546014C>A	ENST00000398214.1	-	4	730	c.505G>T	c.(505-507)Gcc>Tcc	p.A169S	CD200R1L_ENST00000448932.1_Missense_Mutation_p.A148S|CD200R1L_ENST00000488794.1_Missense_Mutation_p.A148S	NM_001008784.2	NP_001008784.2	Q6Q8B3	MO2R2_HUMAN	CD200 receptor 1-like	169	Ig-like C2-type.					integral component of membrane (GO:0016021)		p.A169S(1)		breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|urinary_tract(2)	19						GAGATCTGGGCAGCTGGCTTC	0.493																																						uc003dzi.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(505-507)GCC>TCC		CD200 cell surface glycoprotein receptor 2							51.0	53.0	52.0					3																	112546014		2202	4300	6502	SO:0001583	missense	344807					integral to membrane	receptor activity	g.chr3:112546014C>A	AY284976	CCDS43131.1, CCDS56267.1	3q13.2	2014-05-15	2008-10-08		ENSG00000206531	ENSG00000206531		"""Immunoglobulin superfamily / C2-set domain containing"""	24665	protein-coding gene	gene with protein product	"""CD200 receptor 2"""						Standard	NM_001008784		Approved	CD200RLa, CD200R2	uc003dzi.1	Q6Q8B3	OTTHUMG00000159283	ENST00000398214.1:c.505G>T	3.37:g.112546014C>A	ENSP00000381272:p.Ala169Ser					CD200R1L_uc011bhw.1_Missense_Mutation_p.A148S|CD200R1L_uc010hqf.1_Missense_Mutation_p.A148S	p.A169S	NM_001008784	NP_001008784	Q6Q8B3	MO2R2_HUMAN			4	731	-			169			Extracellular (Potential).|Ig-like C2-type.		Q6WHB7	Missense_Mutation	SNP	ENST00000398214.1	37	c.505G>T	CCDS43131.1	.	.	.	.	.	.	.	.	.	.	C	19.36	3.812515	0.70912	.	.	ENSG00000206531	ENST00000398214;ENST00000488794;ENST00000448932	T;T;T	0.77750	-1.12;-1.12;-1.12	4.49	3.59	0.41128	CD80-like, immunoglobulin C2-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.64402	D	0.000004	D	0.83843	0.5342	M	0.63208	1.945	0.32066	N	0.595032	D	0.89917	1.0	D	0.87578	0.998	D	0.84372	0.0544	10	0.52906	T	0.07	.	8.9739	0.35924	0.0:0.8955:0.0:0.1045	.	169	Q6Q8B3	MO2R2_HUMAN	S	169;148;148	ENSP00000381272:A169S;ENSP00000418413:A148S;ENSP00000415132:A148S	ENSP00000381272:A169S	A	-	1	0	CD200R1L	114028704	1.000000	0.71417	0.985000	0.45067	0.966000	0.64601	2.584000	0.46102	1.192000	0.43071	0.655000	0.94253	GCC		PASS	0.493	CD200R1L-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000354365.1	NM_001008784		35	19	35	19	---	---	---	---
ZDHHC23	254887	broad.mit.edu	37	3	113673034	113673034	+	Missense_Mutation	SNP	G	G	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr3:113673034G>T	ENST00000330212.3	+	3	948	c.649G>T	c.(649-651)Ggg>Tgg	p.G217W	ZDHHC23_ENST00000498275.1_Missense_Mutation_p.G211W	NM_173570.3	NP_775841.2	Q8IYP9	ZDH23_HUMAN	zinc finger, DHHC-type containing 23	217					protein localization to plasma membrane (GO:0072659)|protein palmitoylation (GO:0018345)	integral component of membrane (GO:0016021)	protein-cysteine S-palmitoyltransferase activity (GO:0019706)|zinc ion binding (GO:0008270)	p.G217W(1)		NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(2)|urinary_tract(2)	16						GAGCAGAAAAGGGCAGGAGAA	0.557																																						uc003eau.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(649-651)GGG>TGG		zinc finger, DHHC domain containing 23							97.0	101.0	100.0					3																	113673034		2203	4300	6503	SO:0001583	missense	254887					integral to membrane	acyltransferase activity|zinc ion binding	g.chr3:113673034G>T	AK127025	CCDS33827.1	3q13.31	2008-05-02			ENSG00000184307	ENSG00000184307		"""Zinc fingers, DHHC-type"""	28654	protein-coding gene	gene with protein product						12477932	Standard	NM_173570		Approved	MGC42530	uc003eau.3	Q8IYP9	OTTHUMG00000159335	ENST00000330212.3:c.649G>T	3.37:g.113673034G>T	ENSP00000330485:p.Gly217Trp					ZDHHC23_uc003eav.2_Missense_Mutation_p.G211W	p.G217W	NM_173570	NP_775841	Q8IYP9	ZDH23_HUMAN			3	948	+			217					D3DN76	Missense_Mutation	SNP	ENST00000330212.3	37	c.649G>T	CCDS33827.1	.	.	.	.	.	.	.	.	.	.	G	13.65	2.301341	0.40694	.	.	ENSG00000184307	ENST00000330212;ENST00000498275	T;T	0.46819	0.86;0.86	5.64	5.64	0.86602	.	0.296621	0.37669	N	0.001995	T	0.58366	0.2117	L	0.36672	1.1	0.39324	D	0.965309	D	0.76494	0.999	D	0.69307	0.963	T	0.61347	-0.7081	10	0.66056	D	0.02	-19.4631	14.8606	0.70379	0.0707:0.0:0.9293:0.0	.	217	Q8IYP9	ZDH23_HUMAN	W	217;211	ENSP00000330485:G217W;ENSP00000417840:G211W	ENSP00000330485:G217W	G	+	1	0	ZDHHC23	115155724	0.992000	0.36948	0.974000	0.42286	0.160000	0.22226	2.182000	0.42556	2.660000	0.90430	0.561000	0.74099	GGG		PASS	0.557	ZDHHC23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354702.1	NM_173570		113	96	113	96	---	---	---	---
STXBP5L	9515	broad.mit.edu	37	3	120941900	120941900	+	Missense_Mutation	SNP	G	G	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr3:120941900G>T	ENST00000273666.6	+	11	1278	c.1007G>T	c.(1006-1008)aGa>aTa	p.R336I	STXBP5L_ENST00000471454.1_Missense_Mutation_p.R336I|STXBP5L_ENST00000472879.1_Missense_Mutation_p.R336I|STXBP5L_ENST00000497029.1_Missense_Mutation_p.R336I|STXBP5L_ENST00000492541.1_Missense_Mutation_p.R336I	NM_014980.2	NP_055795.1	Q9Y2K9	STB5L_HUMAN	syntaxin binding protein 5-like	336					exocytosis (GO:0006887)|glucose homeostasis (GO:0042593)|negative regulation of insulin secretion (GO:0046676)|positive regulation of protein secretion (GO:0050714)|protein transport (GO:0015031)|regulation of exocytosis (GO:0017157)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.R336I(1)		NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(12)|lung(28)|ovary(7)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	68				GBM - Glioblastoma multiforme(114;0.0694)		AAAGCTTGTAGAAGACCAAGT	0.368																																						uc003eec.3																			1	Substitution - Missense(1)		lung(1)	ovary(7)|skin(2)	9						c.(1006-1008)AGA>ATA		syntaxin binding protein 5-like							162.0	153.0	155.0					3																	120941900		1879	4101	5980	SO:0001583	missense	9515				exocytosis|protein transport	cytoplasm|integral to membrane|plasma membrane		g.chr3:120941900G>T	AB023223	CCDS43137.1	3q13.33-q21.1	2013-01-10			ENSG00000145087	ENSG00000145087		"""WD repeat domain containing"""	30757	protein-coding gene	gene with protein product		609381				10231032, 14767561	Standard	NM_014980		Approved	KIAA1006, LLGL4	uc003eec.4	Q9Y2K9	OTTHUMG00000159426	ENST00000273666.6:c.1007G>T	3.37:g.120941900G>T	ENSP00000273666:p.Arg336Ile					STXBP5L_uc011bji.1_Missense_Mutation_p.R336I	p.R336I	NM_014980	NP_055795	Q9Y2K9	STB5L_HUMAN		GBM - Glioblastoma multiforme(114;0.0694)	11	1147	+			336			WD 6.		Q4G1B4|Q6PIC3	Missense_Mutation	SNP	ENST00000273666.6	37	c.1007G>T	CCDS43137.1	.	.	.	.	.	.	.	.	.	.	G	20.6	4.024742	0.75390	.	.	ENSG00000145087	ENST00000273666;ENST00000471454;ENST00000472879;ENST00000497029;ENST00000492541;ENST00000471262	T;T;T;T;T;T	0.38240	1.83;1.83;1.64;1.15;1.64;1.84	4.5	4.5	0.54988	WD40 repeat-like-containing domain (1);Lethal giant larvae homologue 2 (1);	0.000000	0.85682	D	0.000000	T	0.51584	0.1683	L	0.39147	1.195	0.80722	D	1	B;D	0.76494	0.026;0.999	B;D	0.87578	0.022;0.998	T	0.49244	-0.8960	10	0.40728	T	0.16	-13.0146	17.3968	0.87448	0.0:0.0:1.0:0.0	.	336;336	E9PFI2;Q9Y2K9	.;STB5L_HUMAN	I	336	ENSP00000273666:R336I;ENSP00000420019:R336I;ENSP00000419627:R336I;ENSP00000420287:R336I;ENSP00000420666:R336I;ENSP00000420167:R336I	ENSP00000273666:R336I	R	+	2	0	STXBP5L	122424590	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.657000	0.98554	2.316000	0.78162	0.462000	0.41574	AGA		PASS	0.368	STXBP5L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355256.3			115	86	115	86	---	---	---	---
MYLK	4638	broad.mit.edu	37	3	123452850	123452850	+	Silent	SNP	C	C	A	rs55932343		TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr3:123452850C>A	ENST00000475616.1	-	7	992	c.993G>T	c.(991-993)acG>acT	p.T331T	MYLK_ENST00000360304.3_Silent_p.T331T|MYLK_ENST00000359169.1_Silent_p.T331T|MYLK_ENST00000360772.3_Silent_p.T331T|MYLK_ENST00000346322.5_Silent_p.T331T			Q15746	MYLK_HUMAN	myosin light chain kinase	331					actin filament organization (GO:0007015)|aorta smooth muscle tissue morphogenesis (GO:0060414)|bleb assembly (GO:0032060)|cellular hypotonic response (GO:0071476)|muscle contraction (GO:0006936)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cell migration (GO:0030335)|positive regulation of wound healing (GO:0090303)|protein phosphorylation (GO:0006468)|smooth muscle contraction (GO:0006939)|tonic smooth muscle contraction (GO:0014820)	cell-cell junction (GO:0005911)|cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|lamellipodium (GO:0030027)|stress fiber (GO:0001725)	ATP binding (GO:0005524)|calmodulin-dependent protein kinase activity (GO:0004683)|metal ion binding (GO:0046872)|myosin light chain kinase activity (GO:0004687)	p.T331T(1)		NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	113		Lung NSC(201;0.0496)		GBM - Glioblastoma multiforme(114;0.0736)		TCTGCGGGGCCGTTCTGGGCG	0.652																																						uc003ego.2																			1	Substitution - coding silent(1)		lung(1)	ovary(6)|skin(2)|stomach(1)	9						c.(991-993)ACG>ACT		myosin light chain kinase isoform 1							49.0	54.0	52.0					3																	123452850		2203	4300	6503	SO:0001819	synonymous_variant	4638				aorta smooth muscle tissue morphogenesis|muscle contraction	cytosol	actin binding|ATP binding|calmodulin binding|metal ion binding|myosin light chain kinase activity	g.chr3:123452850C>A	X85337	CCDS3023.1, CCDS43141.1, CCDS46896.1, CCDS46897.1, CCDS58849.1	3q21	2013-02-11	2008-01-23		ENSG00000065534	ENSG00000065534	2.7.11.18	"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	7590	protein-coding gene	gene with protein product	"""smooth muscle myosin light chain kinase"""	600922	"""myosin, light polypeptide kinase"""			8575746	Standard	NM_053026		Approved	MLCK, smMLCK, MYLK1, MLCK1	uc003ego.3	Q15746	OTTHUMG00000141304	ENST00000475616.1:c.993G>T	3.37:g.123452850C>A						MYLK_uc011bjw.1_Silent_p.T331T|MYLK_uc003egp.2_Silent_p.T331T|MYLK_uc003egq.2_Silent_p.T331T|MYLK_uc003egr.2_Silent_p.T331T|MYLK_uc003egs.2_Silent_p.T155T	p.T331T	NM_053025	NP_444253	Q15746	MYLK_HUMAN		GBM - Glioblastoma multiforme(114;0.0736)	10	1275	-		Lung NSC(201;0.0496)	331					B4DUE3|D3DN97|O95796|O95797|O95798|O95799|Q14844|Q16794|Q17S15|Q3ZCP9|Q5MY99|Q5MYA0|Q6P2N0|Q7Z4J0|Q9C0L5|Q9UBG5|Q9UBY6|Q9UIT9	Silent	SNP	ENST00000475616.1	37	c.993G>T	CCDS46896.1																																																																																				PASS	0.652	MYLK-004	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356464.1	NM_053025		87	45	87	45	---	---	---	---
KALRN	8997	broad.mit.edu	37	3	124201667	124201667	+	Silent	SNP	C	C	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr3:124201667C>A	ENST00000240874.3	+	28	4355	c.4198C>A	c.(4198-4200)Cgg>Agg	p.R1400R	KALRN_ENST00000460856.1_Silent_p.R1391R|KALRN_ENST00000360013.3_Silent_p.R1400R	NM_003947.4	NP_003938.1	O60229	KALRN_HUMAN	kalirin, RhoGEF kinase	1400	DH 1. {ECO:0000255|PROSITE- ProRule:PRU00062}.				apoptotic signaling pathway (GO:0097190)|intracellular signal transduction (GO:0035556)|nervous system development (GO:0007399)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|protein phosphorylation (GO:0006468)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|vesicle-mediated transport (GO:0016192)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.R1400R(2)		NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	83						GATACAACAGCGGCATGGTCT	0.507																																						uc003ehg.2																			2	Substitution - coding silent(2)		lung(2)	large_intestine(2)|ovary(2)|central_nervous_system(1)|skin(1)	6						c.(4198-4200)CGG>AGG		kalirin, RhoGEF kinase isoform 1							223.0	181.0	195.0					3																	124201667		2203	4300	6503	SO:0001819	synonymous_variant	8997				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport	actin cytoskeleton|cytosol	ATP binding|GTPase activator activity|metal ion binding|protein binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity	g.chr3:124201667C>A	U94190	CCDS3027.1, CCDS3028.1	3q21.2	2013-02-11	2005-03-11	2005-03-12	ENSG00000160145	ENSG00000160145		"""Rho guanine nucleotide exchange factors"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	4814	protein-coding gene	gene with protein product	"""serine/threonine kinase with Dbl and pleckstrin homology domains"""	604605	"""huntingtin-associated protein interacting protein (duo)"""	HAPIP		9285789, 10023074	Standard	NM_001024660		Approved	duo, Hs.8004, TRAD, DUET, Kalirin, ARHGEF24	uc003ehd.3	O60229	OTTHUMG00000125545	ENST00000240874.3:c.4198C>A	3.37:g.124201667C>A						KALRN_uc010hrv.1_Silent_p.R1391R|KALRN_uc003ehf.1_Silent_p.R1400R|KALRN_uc011bjy.1_Silent_p.R1391R|KALRN_uc003ehh.1_Silent_p.R746R	p.R1400R	NM_001024660	NP_001019831	O60229	KALRN_HUMAN			28	4325	+			1400			DH 1.		A8MSI4|C9JQ37|Q6ZN45|Q8TBQ5|Q9NSZ4|Q9Y2A5	Silent	SNP	ENST00000240874.3	37	c.4198C>A	CCDS3027.1	.	.	.	.	.	.	.	.	.	.	C	5.083	0.200965	0.09652	.	.	ENSG00000160145	ENST00000354186	.	.	.	5.31	4.43	0.53597	.	.	.	.	.	T	0.69205	0.3085	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.68580	-0.5371	4	.	.	.	.	13.5011	0.61457	0.3375:0.6625:0.0:0.0	.	.	.	.	R	1368	.	.	S	+	3	2	KALRN	125684357	1.000000	0.71417	1.000000	0.80357	0.591000	0.36615	1.444000	0.35068	1.454000	0.47793	0.655000	0.94253	AGC		PASS	0.507	KALRN-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000258843.4	NM_003947		75	59	75	59	---	---	---	---
OSBPL11	114885	broad.mit.edu	37	3	125266342	125266342	+	Silent	SNP	C	C	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr3:125266342C>A	ENST00000296220.5	-	10	2038	c.1749G>T	c.(1747-1749)ctG>ctT	p.L583L		NM_022776.4	NP_073613.2	Q9BXB4	OSB11_HUMAN	oxysterol binding protein-like 11	583					fat cell differentiation (GO:0045444)|lipid transport (GO:0006869)|positive regulation of sequestering of triglyceride (GO:0010890)	endosome (GO:0005768)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	lipid binding (GO:0008289)	p.L583L(1)		NS(1)|breast(1)|cervix(1)|kidney(2)|large_intestine(8)|lung(9)|ovary(3)|prostate(1)|skin(1)	27						CTTTGCCACCCAGTTCTACCC	0.438																																						uc003eic.2																			1	Substitution - coding silent(1)		lung(1)	ovary(3)|breast(1)|kidney(1)	5						c.(1747-1749)CTG>CTT		oxysterol binding protein-like 11							142.0	129.0	134.0					3																	125266342		2203	4300	6503	SO:0001819	synonymous_variant	114885				lipid transport		lipid binding	g.chr3:125266342C>A	AF392454	CCDS3033.1	3q21	2013-01-10			ENSG00000144909	ENSG00000144909		"""Oxysterol binding proteins"", ""Pleckstrin homology (PH) domain containing"""	16397	protein-coding gene	gene with protein product		606739					Standard	NM_022776		Approved	ORP-11, ORP11, FLJ13012, FLJ13164	uc003eic.3	Q9BXB4	OTTHUMG00000159571	ENST00000296220.5:c.1749G>T	3.37:g.125266342C>A							p.L583L	NM_022776	NP_073613	Q9BXB4	OSB11_HUMAN			10	2486	-			583					A8K9I7	Silent	SNP	ENST00000296220.5	37	c.1749G>T	CCDS3033.1																																																																																				PASS	0.438	OSBPL11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356295.1	NM_022776		84	44	84	44	---	---	---	---
CLSTN2	64084	broad.mit.edu	37	3	140282882	140282882	+	Silent	SNP	G	G	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr3:140282882G>T	ENST00000458420.3	+	16	2752	c.2562G>T	c.(2560-2562)cgG>cgT	p.R854R		NM_022131.2	NP_071414.2	Q9H4D0	CSTN2_HUMAN	calsyntenin 2	854					homophilic cell adhesion (GO:0007156)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|postsynaptic membrane (GO:0045211)	calcium ion binding (GO:0005509)	p.R854R(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|liver(1)|lung(42)|pancreas(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	87						GTGTGTACCGGGTCCGGATCG	0.547										HNSCC(16;0.037)																											GBM(45;858 913 3709 36904 37282)	uc003etn.2																			1	Substitution - coding silent(1)		lung(1)	skin(3)|large_intestine(2)|pancreas(1)|central_nervous_system(1)	7						c.(2560-2562)CGG>CGT		calsyntenin 2 precursor							223.0	190.0	201.0					3																	140282882		2203	4300	6503	SO:0001819	synonymous_variant	64084				homophilic cell adhesion	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|plasma membrane	calcium ion binding	g.chr3:140282882G>T	AJ278018	CCDS3112.1	3q23	2011-07-01			ENSG00000158258	ENSG00000158258		"""Cadherins / Cadherin-related"""	17448	protein-coding gene	gene with protein product	"""cadherin-related family member 13"""	611323				12498782	Standard	NM_022131		Approved	CSTN2, CS2, FLJ39113, CDHR13	uc003etn.3	Q9H4D0	OTTHUMG00000160139	ENST00000458420.3:c.2562G>T	3.37:g.140282882G>T		HNSCC(16;0.037)					p.R854R	NM_022131	NP_071414	Q9H4D0	CSTN2_HUMAN			16	2752	+			854			Cytoplasmic (Potential).		B2RCW5|D3DNF4|Q3SX54|Q3ZB76|Q5UE56|Q96HZ2|Q9BSS0	Silent	SNP	ENST00000458420.3	37	c.2562G>T	CCDS3112.1																																																																																				PASS	0.547	CLSTN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359393.3	NM_022131		130	74	130	74	---	---	---	---
ZIC1	7545	broad.mit.edu	37	3	147128169	147128169	+	Silent	SNP	C	C	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr3:147128169C>T	ENST00000282928.4	+	1	999	c.270C>T	c.(268-270)tcC>tcT	p.S90S		NM_003412.3	NP_003403.2	Q15915	ZIC1_HUMAN	Zic family member 1	90					adult walking behavior (GO:0007628)|brain development (GO:0007420)|cell differentiation (GO:0030154)|inner ear morphogenesis (GO:0042472)|pattern specification process (GO:0007389)|positive regulation of protein import into nucleus (GO:0042307)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of smoothened signaling pathway (GO:0008589)|spinal cord development (GO:0021510)|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)	p.S90S(1)		central_nervous_system(4)|cervix(1)|endometrium(2)|large_intestine(8)|lung(38)|ovary(1)|prostate(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	63						GCTCCTATTCCAGCGCAGCCT	0.687																																						uc003ewe.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.(268-270)TCC>TCT		zinc finger protein of the cerebellum 1							13.0	17.0	15.0					3																	147128169		2107	4254	6361	SO:0001819	synonymous_variant	7545				behavior|brain development|cell differentiation|inner ear morphogenesis|pattern specification process|positive regulation of protein import into nucleus|positive regulation of transcription, DNA-dependent|regulation of smoothened signaling pathway	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr3:147128169C>T	D76435	CCDS3136.1	3q24	2013-01-08	2011-05-19		ENSG00000152977	ENSG00000152977		"""Zinc fingers, C2H2-type"""	12872	protein-coding gene	gene with protein product		600470	"""Zic family member 1 (odd-paired Drosophila homolog)"", ""Zic family member 1 (odd-paired homolog, Drosophila)"""			8542595	Standard	NM_003412		Approved	ZIC, ZNF201	uc003ewe.3	Q15915	OTTHUMG00000159456	ENST00000282928.4:c.270C>T	3.37:g.147128169C>T							p.S90S	NM_003412	NP_003403	Q15915	ZIC1_HUMAN			1	989	+			90					Q2M3N1	Silent	SNP	ENST00000282928.4	37	c.270C>T	CCDS3136.1																																																																																				PASS	0.687	ZIC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355497.1	NM_003412		8	35	8	35	---	---	---	---
AGTR1	185	broad.mit.edu	37	3	148459207	148459207	+	Missense_Mutation	SNP	G	G	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr3:148459207G>T	ENST00000497524.1	+	2	776	c.385G>T	c.(385-387)Gct>Tct	p.A129S	AGTR1_ENST00000418473.2_Missense_Mutation_p.A129S|AGTR1_ENST00000402260.1_Missense_Mutation_p.A129S|AGTR1_ENST00000542281.1_Missense_Mutation_p.A129S|AGTR1_ENST00000461609.1_Missense_Mutation_p.A129S|AGTR1_ENST00000404754.2_Missense_Mutation_p.A129S|AGTR1_ENST00000349243.3_Missense_Mutation_p.A129S|AGTR1_ENST00000475347.1_Missense_Mutation_p.A129S|AGTR1_ENST00000474935.1_Missense_Mutation_p.A129S	NM_009585.3	NP_033611.1	P30556	AGTR1_HUMAN	angiotensin II receptor, type 1	129					angiotensin-activated signaling pathway (GO:0038166)|calcium-mediated signaling (GO:0019722)|cell chemotaxis (GO:0060326)|G-protein coupled receptor signaling pathway (GO:0007186)|kidney development (GO:0001822)|low-density lipoprotein particle remodeling (GO:0034374)|phospholipase C-activating angiotensin-activated signaling pathway (GO:0086097)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of cellular protein metabolic process (GO:0032270)|positive regulation of cholesterol esterification (GO:0010873)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|positive regulation of inflammatory response (GO:0050729)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|positive regulation of NAD(P)H oxidase activity (GO:0033864)|positive regulation of phospholipase A2 activity (GO:0032430)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|regulation of blood vessel size by renin-angiotensin (GO:0002034)|regulation of cell growth (GO:0001558)|regulation of cell proliferation (GO:0042127)|regulation of inflammatory response (GO:0050727)|regulation of renal sodium excretion (GO:0035813)|regulation of systemic arterial blood pressure by renin-angiotensin (GO:0003081)|regulation of vasoconstriction (GO:0019229)|regulation of vasodilation (GO:0042312)|renin-angiotensin regulation of aldosterone production (GO:0002018)|Rho protein signal transduction (GO:0007266)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	angiotensin type I receptor activity (GO:0001596)|angiotensin type II receptor activity (GO:0004945)|bradykinin receptor binding (GO:0031711)|protein heterodimerization activity (GO:0046982)	p.A129S(1)		breast(4)|endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30			LUSC - Lung squamous cell carcinoma(72;0.127)|Lung(72;0.152)		Azilsartan medoxomil(DB08822)|Candesartan(DB00796)|Eprosartan(DB00876)|Forasartan(DB01342)|Irbesartan(DB01029)|Losartan(DB00678)|Olmesartan(DB00275)|Saprisartan(DB01347)|Tasosartan(DB01349)|Telmisartan(DB00966)|Valsartan(DB00177)	TCGATACCTGGCTATTGTTCA	0.493																																						uc003ewg.2																			1	Substitution - Missense(1)		lung(1)		0						c.(385-387)GCT>TCT		angiotensin II receptor, type 1	Candesartan(DB00796)|Eprosartan(DB00876)|Forasartan(DB01342)|Irbesartan(DB01029)|Losartan(DB00678)|Olmesartan(DB00275)|Saprisartan(DB01347)|Spironolactone(DB00421)|Tasosartan(DB01349)|Telmisartan(DB00966)|Valsartan(DB00177)						133.0	127.0	129.0					3																	148459207		2203	4300	6503	SO:0001583	missense	185				calcium-mediated signaling|cell chemotaxis|elevation of cytosolic calcium ion concentration involved in G-protein signaling coupled to IP3 second messenger|kidney development|low-density lipoprotein particle remodeling|positive regulation of cellular protein metabolic process|positive regulation of cholesterol esterification|positive regulation of inflammatory response|positive regulation of NAD(P)H oxidase activity|positive regulation of phospholipase A2 activity|positive regulation of reactive oxygen species metabolic process|regulation of cell growth|regulation of cell proliferation|regulation of renal sodium excretion|regulation of vasoconstriction|renin-angiotensin regulation of aldosterone production|Rho protein signal transduction		acetyltransferase activator activity|angiotensin type I receptor activity|angiotensin type II receptor activity|bradykinin receptor binding|protein heterodimerization activity	g.chr3:148459207G>T	M87290	CCDS3137.1	3q24	2012-08-08	2002-02-20		ENSG00000144891	ENSG00000144891		"""GPCR / Class A : Angiotensin receptors"""	336	protein-coding gene	gene with protein product		106165	"""angiotensin receptor 1B"""	AGTR1B		1550596	Standard	NM_009585		Approved	AT1, AT2R1, AGTR1A, AT2R1A, HAT1R, AG2S, AT2R1B, AT1B	uc003ewh.4	P30556	OTTHUMG00000159503	ENST00000497524.1:c.385G>T	3.37:g.148459207G>T	ENSP00000419422:p.Ala129Ser					AGTR1_uc003ewh.2_Missense_Mutation_p.A129S|AGTR1_uc003ewi.2_Missense_Mutation_p.A129S|AGTR1_uc003ewj.2_Missense_Mutation_p.A129S|AGTR1_uc003ewk.2_Missense_Mutation_p.A129S	p.A129S	NM_031850	NP_114038	P30556	AGTR1_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.127)|Lung(72;0.152)		4	831	+			129			Cytoplasmic (Potential).		Q13725|Q8TBK4	Missense_Mutation	SNP	ENST00000497524.1	37	c.385G>T	CCDS3137.1	.	.	.	.	.	.	.	.	.	.	G	22.6	4.309509	0.81247	.	.	ENSG00000144891	ENST00000497524;ENST00000349243;ENST00000542281;ENST00000418473;ENST00000404754;ENST00000475347;ENST00000474935;ENST00000461609;ENST00000402260	T;T;T;T;T;T;T;T;T	0.52983	0.64;0.64;0.64;0.64;0.64;0.64;0.64;0.64;0.64	5.63	5.63	0.86233	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.68805	0.3041	M	0.69463	2.115	0.80722	D	1	D	0.65815	0.995	D	0.70935	0.971	T	0.70612	-0.4824	10	0.87932	D	0	-12.1818	19.6742	0.95924	0.0:0.0:1.0:0.0	.	129	P30556	AGTR1_HUMAN	S	129	ENSP00000419422:A129S;ENSP00000273430:A129S;ENSP00000443186:A129S;ENSP00000398832:A129S;ENSP00000385612:A129S;ENSP00000419783:A129S;ENSP00000418084:A129S;ENSP00000418851:A129S;ENSP00000385641:A129S	ENSP00000273430:A129S	A	+	1	0	AGTR1	149941897	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.707000	0.98725	2.639000	0.89480	0.655000	0.94253	GCT		PASS	0.493	AGTR1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355807.1			131	131	131	131	---	---	---	---
CPB1	1360	broad.mit.edu	37	3	148552407	148552407	+	Nonsense_Mutation	SNP	C	C	G			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr3:148552407C>G	ENST00000491148.1	+	4	604	c.270C>G	c.(268-270)taC>taG	p.Y90*	CPB1_ENST00000282957.4_Nonsense_Mutation_p.Y90*			P15086	CBPB1_HUMAN	carboxypeptidase B1 (tissue)	90						extracellular region (GO:0005576)	carboxypeptidase activity (GO:0004180)|metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)	p.Y90*(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(15)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	38			LUSC - Lung squamous cell carcinoma(72;0.0934)|Lung(72;0.115)			AACTACAATACAAGTAAGTTT	0.368																																						uc003ewl.2																			1	Substitution - Nonsense(1)		lung(1)	ovary(1)|central_nervous_system(1)|skin(1)	3						c.(268-270)TAC>TAG		pancreatic carboxypeptidase B1 preproprotein							73.0	71.0	71.0					3																	148552407		2202	4299	6501	SO:0001587	stop_gained	1360				proteolysis	extracellular region	metallocarboxypeptidase activity|zinc ion binding	g.chr3:148552407C>G	AJ224866	CCDS33874.1	3q24	2012-02-10			ENSG00000153002	ENSG00000153002	3.4.17.2		2299	protein-coding gene	gene with protein product	"""pancreatic carboxypeptidase B"", ""tissue carboxypeptidase B"", ""protaminase"""	114852					Standard	XM_005247124		Approved		uc003ewl.3	P15086	OTTHUMG00000159520	ENST00000491148.1:c.270C>G	3.37:g.148552407C>G	ENSP00000417222:p.Tyr90*						p.Y90*	NM_001871	NP_001862	P15086	CBPB1_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0934)|Lung(72;0.115)		3	293	+			90					O60834|Q53XJ0|Q96BQ8	Nonsense_Mutation	SNP	ENST00000491148.1	37	c.270C>G	CCDS33874.1	.	.	.	.	.	.	.	.	.	.	C	3.195	-0.164907	0.06502	.	.	ENSG00000153002	ENST00000491148;ENST00000462345;ENST00000282957;ENST00000468341	.	.	.	5.17	-4.66	0.03329	.	0.599178	0.18302	N	0.145395	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	16.5356	0.84372	0.0:0.6316:0.0:0.3684	.	.	.	.	X	90	.	ENSP00000282957:Y90X	Y	+	3	2	CPB1	150035097	0.273000	0.24181	0.009000	0.14445	0.002000	0.02628	-0.001000	0.12947	-0.938000	0.03714	-0.373000	0.07131	TAC		PASS	0.368	CPB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355928.1	NM_001871		19	124	19	124	---	---	---	---
P2RY14	9934	broad.mit.edu	37	3	150931184	150931184	+	Nonsense_Mutation	SNP	A	A	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr3:150931184A>T	ENST00000309170.3	-	3	1233	c.921T>A	c.(919-921)tgT>tgA	p.C307*	MED12L_ENST00000273432.4_Intron|MED12L_ENST00000474524.1_Intron|P2RY14_ENST00000424796.2_Nonsense_Mutation_p.C307*	NM_001081455.1|NM_014879.3	NP_001074924.1|NP_055694.3	Q15391	P2Y14_HUMAN	purinergic receptor P2Y, G-protein coupled, 14	307					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled purinergic nucleotide receptor activity (GO:0045028)|UDP-activated nucleotide receptor activity (GO:0045029)	p.C307*(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(6)|ovary(1)|prostate(1)|skin(1)	20			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			GCAATTTCTTACATAAGATTT	0.358																																						uc003eyr.1																			1	Substitution - Nonsense(1)		lung(1)	large_intestine(2)|ovary(1)|lung(1)	4						c.(919-921)TGT>TGA		P2Y14 receptor							123.0	125.0	124.0					3																	150931184		2203	4300	6503	SO:0001587	stop_gained	9934					integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled|UDP-activated nucleotide receptor activity	g.chr3:150931184A>T	D13626	CCDS3156.1	3q21-q25	2012-08-08	2004-07-12	2004-07-14	ENSG00000174944	ENSG00000174944		"""Purinergic receptors"", ""GPCR / Class A : Purinergic receptors, P2Y"""	16442	protein-coding gene	gene with protein product		610116	"""G protein-coupled receptor 105"""	GPR105			Standard	NM_014879		Approved	KIAA0001	uc003eys.1	Q15391	OTTHUMG00000159859	ENST00000309170.3:c.921T>A	3.37:g.150931184A>T	ENSP00000308361:p.Cys307*					MED12L_uc011bnz.1_Intron|MED12L_uc003eyp.2_Intron|P2RY14_uc003eys.1_Nonsense_Mutation_p.C307*	p.C307*	NM_001081455	NP_001074924	Q15391	P2Y14_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)		3	1399	-			307			Cytoplasmic (Potential).		Q8IYT7	Nonsense_Mutation	SNP	ENST00000309170.3	37	c.921T>A	CCDS3156.1	.	.	.	.	.	.	.	.	.	.	A	36	5.914805	0.97099	.	.	ENSG00000174944	ENST00000309170;ENST00000424796	.	.	.	5.36	1.41	0.22369	.	0.480131	0.19371	N	0.115917	.	.	.	.	.	.	0.58432	D	0.999999	.	.	.	.	.	.	.	.	.	.	0.37606	T	0.19	-2.574	6.5377	0.22363	0.5201:0.1361:0.3439:0.0	.	.	.	.	X	307	.	ENSP00000308361:C307X	C	-	3	2	P2RY14	152413874	0.136000	0.22515	0.999000	0.59377	0.994000	0.84299	0.301000	0.19174	0.370000	0.24538	0.528000	0.53228	TGT		PASS	0.358	P2RY14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357789.1	NM_014879		124	140	124	140	---	---	---	---
AADACL2	344752	broad.mit.edu	37	3	151463429	151463429	+	Missense_Mutation	SNP	C	C	G	rs370207359		TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr3:151463429C>G	ENST00000356517.3	+	4	673	c.564C>G	c.(562-564)gaC>gaG	p.D188E		NM_207365.3	NP_997248.2	Q6P093	ADCL2_HUMAN	arylacetamide deacetylase-like 2	188						extracellular region (GO:0005576)|integral component of membrane (GO:0016021)	carboxylic ester hydrolase activity (GO:0052689)	p.D188E(1)|p.D166E(1)		NS(1)|breast(1)|endometrium(2)|large_intestine(4)|liver(1)|lung(13)|skin(2)	24			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0813)			TTGCGGGAGACAGTTCTGGGG	0.393																																						uc003ezc.2																			2	Substitution - Missense(2)		lung(2)		0						c.(562-564)GAC>GAG		arylacetamide deacetylase-like 2 precursor							68.0	76.0	73.0					3																	151463429		2203	4299	6502	SO:0001583	missense	344752					extracellular region|integral to membrane	carboxylesterase activity	g.chr3:151463429C>G	BC065724	CCDS3161.2	3q25.1	2010-12-14			ENSG00000197953	ENSG00000197953			24427	protein-coding gene	gene with protein product							Standard	NM_207365		Approved	MGC72001	uc003ezc.3	Q6P093	OTTHUMG00000155914	ENST00000356517.3:c.564C>G	3.37:g.151463429C>G	ENSP00000348911:p.Asp188Glu					AADACL2_uc010hvn.2_5'UTR	p.D188E	NM_207365	NP_997248	Q6P093	ADCL2_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0813)		4	684	+			188					Q5HYJ4	Missense_Mutation	SNP	ENST00000356517.3	37	c.564C>G	CCDS3161.2	.	.	.	.	.	.	.	.	.	.	C	13.49	2.253803	0.39896	.	.	ENSG00000197953	ENST00000356517	T	0.15139	2.45	4.58	0.708	0.18144	Alpha/beta hydrolase fold-3 (1);	0.096722	0.64402	D	0.000001	T	0.25568	0.0622	L	0.58969	1.84	0.51767	D	0.999938	D	0.59767	0.986	P	0.59012	0.85	T	0.01767	-1.1278	10	0.48119	T	0.1	-10.1124	5.4112	0.16349	0.141:0.6186:0.0:0.2405	.	188	Q6P093	ADCL2_HUMAN	E	188	ENSP00000348911:D188E	ENSP00000348911:D188E	D	+	3	2	AADACL2	152946119	0.885000	0.30320	0.995000	0.50966	0.048000	0.14542	-0.178000	0.09782	0.017000	0.15025	-0.251000	0.11542	GAC		PASS	0.393	AADACL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342288.3	NM_207365		22	168	22	168	---	---	---	---
PLCH1	23007	broad.mit.edu	37	3	155199359	155199359	+	Missense_Mutation	SNP	T	T	C			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr3:155199359T>C	ENST00000340059.7	-	23	4479	c.4480A>G	c.(4480-4482)Agt>Ggt	p.S1494G	PLCH1_ENST00000494598.1_Intron|PLCH1_ENST00000460012.1_Missense_Mutation_p.S1456G|PLCH1_ENST00000414191.1_Missense_Mutation_p.S1456G|PLCH1_ENST00000447496.2_3'UTR|PLCH1_ENST00000334686.6_Missense_Mutation_p.S1456G	NM_001130960.1	NP_001124432.1	Q4KWH8	PLCH1_HUMAN	phospholipase C, eta 1	1494					inositol phosphate metabolic process (GO:0043647)|lipid catabolic process (GO:0016042)|phosphatidylinositol-mediated signaling (GO:0048015)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|calcium-dependent phospholipase C activity (GO:0050429)|phosphatidylinositol phospholipase C activity (GO:0004435)|signal transducer activity (GO:0004871)	p.S1456G(1)|p.S1494G(1)		NS(3)|breast(3)|endometrium(9)|kidney(4)|large_intestine(20)|lung(45)|ovary(2)|prostate(5)|skin(8)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	107			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)			TCCCCCAGACTTTTGGATTTG	0.443																																						uc011bok.1																			2	Substitution - Missense(2)		lung(2)	skin(3)|ovary(1)	4						c.(4480-4482)AGT>GGT		phospholipase C eta 1 isoform a							80.0	80.0	80.0					3																	155199359		2203	4300	6503	SO:0001583	missense	23007				lipid catabolic process|phosphatidylinositol-mediated signaling	membrane	calcium ion binding|calcium-dependent phospholipase C activity|phosphatidylinositol phospholipase C activity|signal transducer activity	g.chr3:155199359T>C	AB028992	CCDS33881.1, CCDS46939.1, CCDS46940.1	3q25	2013-01-10	2006-03-16	2006-03-16	ENSG00000114805	ENSG00000114805	3.1.4.11	"""EF-hand domain containing"""	29185	protein-coding gene	gene with protein product		612835	"""phospholipase C-like 3"""	PLCL3		15702972	Standard	NM_014996		Approved	KIAA1069, MGC117152, DKFZp434C1372, PLCeta1	uc021xge.1	Q4KWH8	OTTHUMG00000158477	ENST00000340059.7:c.4480A>G	3.37:g.155199359T>C	ENSP00000345988:p.Ser1494Gly					PLCH1_uc011boj.1_3'UTR|PLCH1_uc011bol.1_Missense_Mutation_p.S1456G	p.S1494G	NM_001130960	NP_001124432	Q4KWH8	PLCH1_HUMAN	Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)		23	4757	-			1494					Q29RV9|Q4KWH9|Q68CN0|Q86XK4|Q9H9U2|Q9UPT3	Missense_Mutation	SNP	ENST00000340059.7	37	c.4480A>G	CCDS46939.1	.	.	.	.	.	.	.	.	.	.	T	18.85	3.710529	0.68730	.	.	ENSG00000114805	ENST00000460012;ENST00000340059;ENST00000334686;ENST00000414191	T;T;T;T	0.58358	0.34;0.36;0.34;0.34	5.02	5.02	0.67125	.	0.414184	0.30901	N	0.008642	T	0.71787	0.3381	M	0.76170	2.325	0.49389	D	0.999782	D;D	0.71674	0.998;0.997	D;D	0.80764	0.994;0.985	T	0.76219	-0.3039	10	0.87932	D	0	.	14.744	0.69477	0.0:0.0:0.0:1.0	.	1456;1494	Q4KWH8-2;Q4KWH8	.;PLCH1_HUMAN	G	1456;1494;1456;1456	ENSP00000417502:S1456G;ENSP00000345988:S1494G;ENSP00000335469:S1456G;ENSP00000412977:S1456G	ENSP00000335469:S1456G	S	-	1	0	PLCH1	156682053	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.873000	0.69644	1.875000	0.54330	0.528000	0.53228	AGT		PASS	0.443	PLCH1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000351125.1	NM_014996		15	96	15	96	---	---	---	---
MFSD1	64747	broad.mit.edu	37	3	158519984	158519984	+	Missense_Mutation	SNP	G	G	C			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr3:158519984G>C	ENST00000264266.8	+	1	105	c.43G>C	c.(43-45)Ggc>Cgc	p.G15R	RP11-379F4.9_ENST00000607044.1_RNA|MFSD1_ENST00000415822.2_Missense_Mutation_p.G64R|MFSD1_ENST00000392813.4_Missense_Mutation_p.G64R			Q9H3U5	MFSD1_HUMAN	major facilitator superfamily domain containing 1	15					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)		p.G15R(1)|p.G64R(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(15)|skin(1)	26			Lung(72;0.00372)|LUSC - Lung squamous cell carcinoma(72;0.00523)			CCTGGCAGGCGGCCCTGACGA	0.692																																					Pancreas(62;1186 1654 36636 37908)	uc003fcl.1																			2	Substitution - Missense(2)		lung(2)		0						c.(43-45)GGC>CGC		major facilitator superfamily domain containing							13.0	15.0	14.0					3																	158519984		2193	4283	6476	SO:0001583	missense	64747				transmembrane transport	integral to membrane		g.chr3:158519984G>C	BC017661	CCDS3185.1, CCDS3185.2, CCDS54666.1	3q25.32	2005-11-17			ENSG00000118855	ENSG00000118855			25874	protein-coding gene	gene with protein product							Standard	NM_022736		Approved	FLJ14153, UG0581B09	uc003fcl.2	Q9H3U5	OTTHUMG00000158835	ENST00000264266.8:c.43G>C	3.37:g.158519984G>C	ENSP00000264266:p.Gly15Arg					MFSD1_uc003fcm.1_RNA|MFSD1_uc003fcn.1_5'UTR|MFSD1_uc011bow.1_Missense_Mutation_p.G15R|MFSD1_uc011box.1_5'UTR	p.G15R	NM_022736	NP_073573	Q9H3U5	MFSD1_HUMAN	Lung(72;0.00372)|LUSC - Lung squamous cell carcinoma(72;0.00523)		1	73	+			15					B4DGJ8|B4DMR8|B4DU49|B4DWU1|C9JS94|J3KQL7|Q05C07|Q5XKJ1|Q8IVS1|Q8IXG4|Q9H7X1	Missense_Mutation	SNP	ENST00000264266.8	37	c.43G>C		.	.	.	.	.	.	.	.	.	.	G	12.96	2.095205	0.36952	.	.	ENSG00000118855	ENST00000415822;ENST00000392813;ENST00000264266;ENST00000361159	T;T;T	0.18174	2.23;2.28;2.3	4.93	1.05	0.20165	Major facilitator superfamily domain, general substrate transporter (1);	0.505634	0.19687	N	0.108372	T	0.07773	0.0195	N	0.14661	0.345	0.21064	N	0.999798	B;B	0.10296	0.003;0.0	B;B	0.15052	0.012;0.001	T	0.41662	-0.9496	10	0.12103	T	0.63	.	7.1407	0.25554	0.1521:0.2593:0.5885:0.0	.	64;15	C9JS94;Q9H3U5	.;MFSD1_HUMAN	R	64;64;15;15	ENSP00000403117:G64R;ENSP00000376560:G64R;ENSP00000264266:G15R	ENSP00000264266:G15R	G	+	1	0	MFSD1	160002678	0.857000	0.29778	0.014000	0.15608	0.033000	0.12548	0.787000	0.26858	-0.099000	0.12263	0.563000	0.77884	GGC		PASS	0.692	MFSD1-018	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000470730.1	NM_022736		12	3	12	3	---	---	---	---
IQCJ	654502	broad.mit.edu	37	3	158980335	158980335	+	Splice_Site	SNP	A	A	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr3:158980335A>T	ENST00000451172.1	+	4	260		c.e4-1		IQCJ-SCHIP1_ENST00000476809.1_Splice_Site|IQCJ_ENST00000482126.1_Splice_Site|IQCJ_ENST00000481796.1_Splice_Site|IQCJ_ENST00000397832.2_Splice_Site|IQCJ-SCHIP1_ENST00000485419.1_Splice_Site|IQCJ-SCHIP1_ENST00000467442.1_Splice_Site	NM_001042705.2	NP_001036170.1	Q1A5X6	IQCJ_HUMAN	IQ motif containing J									p.?(3)		cervix(1)|endometrium(2)|large_intestine(2)|lung(10)	15			LUSC - Lung squamous cell carcinoma(72;0.00523)|Lung(72;0.00534)			TTGTTTTTTCAGCATTCAGCG	0.512																																						uc003fcq.1																			3	Unknown(3)		lung(3)	ovary(1)|central_nervous_system(1)	2						c.e4-2		schwannomin interacting protein 1							65.0	68.0	67.0					3																	158980335		1959	4155	6114	SO:0001630	splice_region_variant	29970					cytoplasm	identical protein binding|protein binding	g.chr3:158980335A>T	DQ309553, DQ309554	CCDS46946.1, CCDS46947.1, CCDS56290.1	3q25.32	2011-03-24			ENSG00000214216	ENSG00000214216			32406	protein-coding gene	gene with protein product		611622				17045569	Standard	NM_001042705		Approved			Q1A5X6	OTTHUMG00000166440	ENST00000451172.1:c.156-1A>T	3.37:g.158980335A>T						SCHIP1_uc003fcr.1_Splice_Site|IQCJ_uc003fco.2_Splice_Site_p.I52_splice|IQCJ_uc010hvy.1_Splice_Site_p.N25_splice|IQCJ_uc003fcp.1_Splice_Site_p.I52_splice	p.I52_splice	NM_014575	NP_055390	Q9P0W5	SCHI1_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.00523)|Lung(72;0.00534)		4	261	+								B7ZMM2|B9EH97|Q1A5X5	Splice_Site	SNP	ENST00000451172.1	37	c.156_splice	CCDS46946.1	.	.	.	.	.	.	.	.	.	.	A	16.90	3.250514	0.59212	.	.	ENSG00000250588;ENSG00000250588;ENSG00000250588;ENSG00000250588;ENSG00000250588;ENSG00000250588;ENSG00000214216;ENSG00000214216;ENSG00000214216	ENST00000471575;ENST00000476809;ENST00000485419;ENST00000483486;ENST00000481715;ENST00000488898;ENST00000397832;ENST00000451172;ENST00000482126	.	.	.	5.48	5.48	0.80851	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.5604	0.68130	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	IQCJ-SCHIP1;IQCJ	160463029	1.000000	0.71417	0.915000	0.36163	0.462000	0.32619	8.351000	0.90072	2.073000	0.62155	0.533000	0.62120	.		PASS	0.512	IQCJ-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000352395.1	NM_001042705.1	Intron	50	59	50	59	---	---	---	---
SI	6476	broad.mit.edu	37	3	164777795	164777795	+	Missense_Mutation	SNP	C	C	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr3:164777795C>A	ENST00000264382.3	-	10	1103	c.1041G>T	c.(1039-1041)atG>atT	p.M347I		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	347	Isomaltase.				carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)	brush border (GO:0005903)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-1,4-glucosidase activity (GO:0004558)|carbohydrate binding (GO:0030246)|oligo-1,6-glucosidase activity (GO:0004574)|sucrose alpha-glucosidase activity (GO:0004575)	p.M347I(1)		NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)|Scopolamine(DB00747)	AATATGCTGGCATTGCTGGTA	0.363										HNSCC(35;0.089)																												uc003fei.2																			1	Substitution - Missense(1)		lung(1)	ovary(7)|upper_aerodigestive_tract(4)|skin(2)|pancreas(1)	14						c.(1039-1041)ATG>ATT		sucrase-isomaltase	Acarbose(DB00284)						95.0	101.0	99.0					3																	164777795		2203	4300	6503	SO:0001583	missense	6476				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|brush border|Golgi apparatus|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity	g.chr3:164777795C>A	X63597	CCDS3196.1	3q25.2-q26.2	2004-04-06	2004-04-06		ENSG00000090402	ENSG00000090402	3.2.1.10		10856	protein-coding gene	gene with protein product	"""Oligosaccharide alpha-1,6-glucosidase"""	609845	"""sucrase-isomaltase"""			2962903, 1353958	Standard	NM_001041		Approved		uc003fei.3	P14410	OTTHUMG00000158065	ENST00000264382.3:c.1041G>T	3.37:g.164777795C>A	ENSP00000264382:p.Met347Ile	HNSCC(35;0.089)					p.M347I	NM_001041	NP_001032	P14410	SUIS_HUMAN			10	1103	-		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)	347			Lumenal.|Isomaltase.		A2RUC3|Q1JQ80|Q1RMC2	Missense_Mutation	SNP	ENST00000264382.3	37	c.1041G>T	CCDS3196.1	.	.	.	.	.	.	.	.	.	.	C	15.12	2.739109	0.49045	.	.	ENSG00000090402	ENST00000264382	D	0.92397	-3.03	5.49	5.49	0.81192	Glycoside hydrolase, superfamily (1);	0.036710	0.85682	D	0.000000	D	0.91955	0.7452	M	0.63208	1.945	0.42447	D	0.992738	B	0.32862	0.387	B	0.36378	0.223	D	0.91422	0.5159	10	0.56958	D	0.05	.	19.362	0.94445	0.0:1.0:0.0:0.0	.	347	P14410	SUIS_HUMAN	I	347	ENSP00000264382:M347I	ENSP00000264382:M347I	M	-	3	0	SI	166260489	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	3.544000	0.53640	2.568000	0.86640	0.484000	0.47621	ATG		PASS	0.363	SI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350116.1	NM_001041		111	85	111	85	---	---	---	---
GOLIM4	27333	broad.mit.edu	37	3	167750452	167750452	+	Missense_Mutation	SNP	C	C	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr3:167750452C>A	ENST00000470487.1	-	9	1721	c.1032G>T	c.(1030-1032)gaG>gaT	p.E344D	GOLIM4_ENST00000309027.4_Missense_Mutation_p.E316D	NM_014498.3	NP_055313.1	O00461	GOLI4_HUMAN	golgi integral membrane protein 4	344	Glu-rich.				transport (GO:0006810)	cis-Golgi network (GO:0005801)|endocytic vesicle (GO:0030139)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)		p.E344D(1)		breast(5)|endometrium(2)|large_intestine(8)|lung(26)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						TTTCTTCCTCCTCCAGGGCCT	0.552																																						uc003ffe.2																			1	Substitution - Missense(1)		lung(1)	breast(4)|skin(1)	5						c.(1030-1032)GAG>GAT		golgi integral membrane protein 4							187.0	169.0	175.0					3																	167750452		2203	4300	6503	SO:0001583	missense	27333				transport	cis-Golgi network|endocytic vesicle|endosome membrane|Golgi cisterna membrane|Golgi lumen|integral to membrane|nucleus		g.chr3:167750452C>A	U55853	CCDS3204.1	3q26	2007-07-30	2007-07-30	2007-07-30	ENSG00000173905	ENSG00000173905			15448	protein-coding gene	gene with protein product		606805	"""golgi phosphoprotein 4"""	GOLPH4		9201717, 15004235	Standard	NM_014498		Approved	GPP130, GIMPC, P138	uc003ffe.2	O00461	OTTHUMG00000158554	ENST00000470487.1:c.1032G>T	3.37:g.167750452C>A	ENSP00000417354:p.Glu344Asp					GOLIM4_uc011bpe.1_Missense_Mutation_p.E344D|GOLIM4_uc011bpf.1_Missense_Mutation_p.E316D|GOLIM4_uc011bpg.1_Missense_Mutation_p.E316D	p.E344D	NM_014498	NP_055313	O00461	GOLI4_HUMAN			9	1376	-			344			Glu-rich.|Lumenal (Potential).			Missense_Mutation	SNP	ENST00000470487.1	37	c.1032G>T	CCDS3204.1	.	.	.	.	.	.	.	.	.	.	C	17.60	3.428703	0.62844	.	.	ENSG00000173905	ENST00000470487;ENST00000309027	.	.	.	5.25	-7.06	0.01568	.	0.211227	0.47852	D	0.000206	T	0.63698	0.2533	M	0.72118	2.19	0.40991	D	0.98485	D;D	0.54047	0.964;0.964	P;P	0.49829	0.623;0.623	T	0.73751	-0.3884	9	0.19590	T	0.45	-8.2301	20.9249	0.99941	0.0:0.792:0.0:0.208	.	316;344	F8W785;O00461	.;GOLI4_HUMAN	D	344;316	.	ENSP00000309893:E316D	E	-	3	2	GOLIM4	169233146	0.002000	0.14202	0.697000	0.30258	0.798000	0.45092	-2.317000	0.01122	-1.596000	0.01611	-0.377000	0.06932	GAG		PASS	0.552	GOLIM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351278.2			76	57	76	57	---	---	---	---
TNIK	23043	broad.mit.edu	37	3	170802911	170802911	+	Silent	SNP	G	G	A	rs368574578		TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr3:170802911G>A	ENST00000436636.2	-	25	3338	c.2994C>T	c.(2992-2994)gcC>gcT	p.A998A	TNIK_ENST00000475336.1_Silent_p.A906A|TNIK_ENST00000470834.1_Silent_p.A961A|TNIK_ENST00000341852.6_Silent_p.A914A|TNIK_ENST00000538048.1_Silent_p.A950A|TNIK_ENST00000460047.1_Silent_p.A935A|TNIK_ENST00000488470.1_Silent_p.A943A|TNIK_ENST00000284483.8_Silent_p.A990A|TNIK_ENST00000357327.5_Silent_p.A969A|TNIK_ENST00000369326.5_Silent_p.A976A	NM_015028.2	NP_055843.1	Q9UKE5	TNIK_HUMAN	TRAF2 and NCK interacting kinase	998	Mediates interaction with NEDD4.				actin cytoskeleton reorganization (GO:0031532)|activation of JNKK activity (GO:0007256)|cytoskeleton organization (GO:0007010)|intracellular signal transduction (GO:0035556)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of dendrite morphogenesis (GO:0048814)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|small GTPase regulator activity (GO:0005083)	p.A998A(2)		cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(22)|ovary(5)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(2)	62	all_cancers(22;2.55e-19)|all_lung(20;2.22e-14)|Ovarian(172;0.00197)|Breast(254;0.122)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)			GCTTACCTGCGGCTGATGATT	0.483																																						uc003fhh.2																			2	Substitution - coding silent(2)		lung(2)	ovary(4)|large_intestine(1)	5						c.(2992-2994)GCC>GCT		TRAF2 and NCK interacting kinase isoform 1		G	,,,,,,,	0,3814		0,0,1907	59.0	60.0	59.0		2970,2907,2883,2829,2805,2742,2718,2994	-10.7	0.0	3		59	1,8245		0,1,4122	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	TNIK	NM_001161560.1,NM_001161561.1,NM_001161562.1,NM_001161563.1,NM_001161564.1,NM_001161565.1,NM_001161566.1,NM_015028.2	,,,,,,,	0,1,6029	AA,AG,GG		0.0121,0.0,0.0083	,,,,,,,	990/1353,969/1332,961/1324,943/1306,935/1298,914/1277,906/1269,998/1361	170802911	1,12059	1907	4123	6030	SO:0001819	synonymous_variant	23043				actin cytoskeleton reorganization|activation of JNKK activity|protein autophosphorylation|regulation of dendrite morphogenesis|Wnt receptor signaling pathway	cytoskeleton|nucleus|recycling endosome	ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity	g.chr3:170802911G>A	AF172264	CCDS46956.1, CCDS54673.1, CCDS54674.1, CCDS54675.1, CCDS54676.1, CCDS54677.1, CCDS54678.1, CCDS54679.1	3q26.31	2008-01-23			ENSG00000154310	ENSG00000154310			30765	protein-coding gene	gene with protein product		610005				9628581, 10521462	Standard	NR_027767		Approved	KIAA0551	uc003fhh.2	Q9UKE5	OTTHUMG00000159036	ENST00000436636.2:c.2994C>T	3.37:g.170802911G>A						TNIK_uc003fhi.2_Silent_p.A943A|TNIK_uc003fhj.2_Silent_p.A969A|TNIK_uc003fhk.2_Silent_p.A990A|TNIK_uc003fhl.2_Silent_p.A914A|TNIK_uc003fhm.2_Silent_p.A935A|TNIK_uc003fhn.2_Silent_p.A961A|TNIK_uc003fho.2_Silent_p.A906A|TNIK_uc003fhg.2_Silent_p.A176A|TNIK_uc003fhp.2_5'Flank	p.A998A	NM_015028	NP_055843	Q9UKE5	TNIK_HUMAN	LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)		25	3339	-	all_cancers(22;2.55e-19)|all_lung(20;2.22e-14)|Ovarian(172;0.00197)|Breast(254;0.122)		998			Mediates interaction with NEDD4.		A7E2A3|A8K4U1|D3DNQ6|O60298|Q8WUY7|Q9UKD8|Q9UKD9|Q9UKE0|Q9UKE1|Q9UKE2|Q9UKE3|Q9UKE4	Silent	SNP	ENST00000436636.2	37	c.2994C>T	CCDS46956.1																																																																																				PASS	0.483	TNIK-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000352973.2	XM_039796		5	25	5	25	---	---	---	---
SPATA16	83893	broad.mit.edu	37	3	172835288	172835288	+	Missense_Mutation	SNP	C	C	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr3:172835288C>A	ENST00000351008.3	-	2	417	c.234G>T	c.(232-234)gaG>gaT	p.E78D		NM_031955.5	NP_114161.3	Q9BXB7	SPT16_HUMAN	spermatogenesis associated 16	78			E -> K (in dbSNP:rs1515441). {ECO:0000269|PubMed:17665087}.		cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	Golgi apparatus (GO:0005794)		p.E78D(1)		breast(2)|cervix(1)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	43	Ovarian(172;0.00319)|Breast(254;0.197)		LUSC - Lung squamous cell carcinoma(14;1.48e-14)|Lung(28;6.63e-14)			AGGCTGCTTTCTCTAAATCAT	0.368																																						uc003fin.3																			1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(1)	3						c.(232-234)GAG>GAT		spermatogenesis associated 16							379.0	354.0	362.0					3																	172835288		2203	4300	6503	SO:0001583	missense	83893				cell differentiation|multicellular organismal development|spermatogenesis	Golgi apparatus	binding	g.chr3:172835288C>A	AF345909	CCDS3221.1	3q26.31	2009-01-05			ENSG00000144962	ENSG00000144962			29935	protein-coding gene	gene with protein product		609856				12529416, 17847006	Standard	NM_031955		Approved	NYD-SP12	uc003fin.4	Q9BXB7	OTTHUMG00000156865	ENST00000351008.3:c.234G>T	3.37:g.172835288C>A	ENSP00000341765:p.Glu78Asp						p.E78D	NM_031955	NP_114161	Q9BXB7	SPT16_HUMAN	LUSC - Lung squamous cell carcinoma(14;1.48e-14)|Lung(28;6.63e-14)		2	392	-	Ovarian(172;0.00319)|Breast(254;0.197)		78					Q0R0N4|Q0R0S0|Q0R0W2|Q0R129|Q0R131|Q0R140|Q0R1B8|Q0R1G5|Q0R1I2|Q0R1J6|Q0R1S4|Q0R202|Q0R280|Q0R2F8|Q0R2N6|Q0R2N7|Q0R2R0|Q0R2R1|Q0R2S3|Q0R2S4|Q0R2S5|Q0R2T4|Q0R2T7|Q0R2U2|Q0R2U8|Q0R2U9|Q0R2V5|Q0R2V7|Q8NE67	Missense_Mutation	SNP	ENST00000351008.3	37	c.234G>T	CCDS3221.1	.	.	.	.	.	.	.	.	.	.	C	11.46	1.643942	0.29246	.	.	ENSG00000144962	ENST00000351008	T	0.18174	2.23	5.27	4.37	0.52481	.	0.357463	0.23908	N	0.043374	T	0.10121	0.0248	N	0.14661	0.345	0.22701	N	0.998837	B	0.09022	0.002	B	0.11329	0.006	T	0.20571	-1.0271	10	0.26408	T	0.33	-12.1553	11.3484	0.49573	0.0:0.6727:0.3273:0.0	.	78	Q9BXB7	SPT16_HUMAN	D	78	ENSP00000341765:E78D	ENSP00000341765:E78D	E	-	3	2	SPATA16	174317982	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	3.221000	0.51215	2.450000	0.82876	0.650000	0.86243	GAG		PASS	0.368	SPATA16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346322.1	NM_031955		219	125	219	125	---	---	---	---
IL1RAP	3556	broad.mit.edu	37	3	190366198	190366198	+	Missense_Mutation	SNP	G	G	C	rs34661910	byFrequency	TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr3:190366198G>C	ENST00000412504.2	+	11	1669	c.1417G>C	c.(1417-1419)Gtg>Ctg	p.V473L	IL1RAP_ENST00000317757.3_Intron|IL1RAP_ENST00000447382.1_Missense_Mutation_p.V473L|IL1RAP_ENST00000443369.2_Intron|IL1RAP_ENST00000072516.3_Missense_Mutation_p.V473L|IL1RAP_ENST00000439062.1_Missense_Mutation_p.V473L			Q9NPH3	IL1AP_HUMAN	interleukin 1 receptor accessory protein	473	TIR. {ECO:0000255|PROSITE- ProRule:PRU00204}.		V -> M (in dbSNP:rs34661910).		immune response (GO:0006955)|inflammatory response (GO:0006954)|interleukin-2 biosynthetic process (GO:0042094)|protein complex assembly (GO:0006461)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	interleukin-1 receptor activity (GO:0004908)|signal transducer activity (GO:0004871)	p.V473L(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	20	all_cancers(143;3.61e-10)|Ovarian(172;0.0733)|Breast(254;0.21)		Lung(62;1.95e-06)|LUSC - Lung squamous cell carcinoma(58;2.05e-06)	GBM - Glioblastoma multiforme(93;0.00851)		CCCCAACTACGTGCTCCAGGG	0.493																																						uc003fsm.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1417-1419)GTG>CTG		interleukin 1 receptor accessory protein isoform							97.0	105.0	102.0					3																	190366198		2203	4300	6503	SO:0001583	missense	3556				inflammatory response|innate immune response|protein complex assembly	extracellular region|integral to plasma membrane		g.chr3:190366198G>C	AB006537	CCDS3298.1, CCDS46982.1, CCDS54696.1	3q28	2013-01-11			ENSG00000196083	ENSG00000196083		"""Interleukins and interleukin receptors"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5995	protein-coding gene	gene with protein product		602626				9479509, 9065432	Standard	NM_002182		Approved	IL-1RAcP, IL1R3, C3orf13	uc003fsq.3	Q9NPH3	OTTHUMG00000156211	ENST00000412504.2:c.1417G>C	3.37:g.190366198G>C	ENSP00000412053:p.Val473Leu					IL1RAP_uc010hzg.1_Missense_Mutation_p.V473L|IL1RAP_uc003fsn.1_RNA|IL1RAP_uc003fso.1_Missense_Mutation_p.V473L|IL1RAP_uc003fsp.1_RNA|IL1RAP_uc003fsq.2_Intron	p.V473L	NM_002182	NP_002173	Q9NPH3	IL1AP_HUMAN	Lung(62;1.95e-06)|LUSC - Lung squamous cell carcinoma(58;2.05e-06)	GBM - Glioblastoma multiforme(93;0.00851)	12	1623	+	all_cancers(143;3.61e-10)|Ovarian(172;0.0733)|Breast(254;0.21)		473			Cytoplasmic (Potential).|TIR.		B1NLD0|D3DNW0|O14915|Q86WJ7	Missense_Mutation	SNP	ENST00000412504.2	37	c.1417G>C	CCDS3298.1	.	.	.	.	.	.	.	.	.	.	G	14.28	2.487138	0.44249	.	.	ENSG00000196083	ENST00000072516;ENST00000412504;ENST00000439062;ENST00000447382	T;T;T;T	0.07114	3.22;3.22;3.22;3.22	5.64	3.53	0.40419	Toll/interleukin-1 receptor homology (TIR) domain (4);	0.279539	0.34580	N	0.003847	T	0.05044	0.0135	N	0.16037	0.36	0.35457	D	0.796227	B	0.09022	0.002	B	0.16722	0.016	T	0.33369	-0.9871	10	0.22706	T	0.39	.	10.0126	0.41995	0.2384:0.0:0.7616:0.0	.	473	Q9NPH3	IL1AP_HUMAN	L	473	ENSP00000072516:V473L;ENSP00000412053:V473L;ENSP00000401132:V473L;ENSP00000390541:V473L	ENSP00000072516:V473L	V	+	1	0	IL1RAP	191848892	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.469000	0.53093	1.409000	0.46915	0.557000	0.71058	GTG		PASS	0.493	IL1RAP-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000343497.1			176	85	176	85	---	---	---	---
ZNF721	170960	broad.mit.edu	37	4	437772	437772	+	Nonsense_Mutation	SNP	C	C	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr4:437772C>A	ENST00000338977.5	-	2	496	c.448G>T	c.(448-450)Gag>Tag	p.E150*	ZNF721_ENST00000506646.1_Intron|ZNF721_ENST00000511833.2_Nonsense_Mutation_p.E162*|ZNF721_ENST00000507078.1_Intron|ABCA11P_ENST00000451020.2_RNA			Q8TF20	ZN721_HUMAN	zinc finger protein 721	150					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.E162*(1)		endometrium(2)|kidney(2)|large_intestine(15)|lung(6)|ovary(1)|skin(1)|stomach(5)|urinary_tract(1)	33						TAAGGTTTCTCTCCAGTATGA	0.403																																						uc003gag.2																			1	Substitution - Nonsense(1)		lung(1)	ovary(1)	1						c.(484-486)GAG>TAG		zinc finger protein 721							143.0	154.0	150.0					4																	437772		2147	4275	6422	SO:0001587	stop_gained	170960					intracellular	nucleic acid binding|zinc ion binding	g.chr4:437772C>A	AK092362	CCDS46991.1	4p16.3	2013-01-08			ENSG00000182903	ENSG00000182903		"""Zinc fingers, C2H2-type"", ""-"""	29425	protein-coding gene	gene with protein product						11853319	Standard	NM_133474		Approved	KIAA1982	uc003gag.4	Q8TF20		ENST00000338977.5:c.448G>T	4.37:g.437772C>A	ENSP00000340524:p.Glu150*					ABCA11P_uc003gac.2_Intron|ABCA11P_uc003gad.2_Intron|ABCA11P_uc011buv.1_Intron|ABCA11P_uc003gae.2_Intron|ABCA11P_uc010ibd.1_Intron|ZNF721_uc003gaf.3_Nonsense_Mutation_p.E194*|ZNF721_uc010ibe.2_Nonsense_Mutation_p.E150*	p.E162*	NM_133474	NP_597731	D9N162	D9N162_HUMAN			3	1175	-			162					Q69YG7	Nonsense_Mutation	SNP	ENST00000338977.5	37	c.484G>T		.	.	.	.	.	.	.	.	.	.	C	13.35	2.209792	0.39003	.	.	ENSG00000182903	ENST00000338977;ENST00000511833	.	.	.	1.33	1.33	0.21861	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.42905	T	0.14	.	8.1055	0.30883	0.0:1.0:0.0:0.0	.	.	.	.	X	150;162	.	ENSP00000340524:E150X	E	-	1	0	ZNF721	427772	0.232000	0.23762	0.014000	0.15608	0.108000	0.19459	2.710000	0.47169	0.683000	0.31428	0.205000	0.17691	GAG		PASS	0.403	ZNF721-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000357939.1	NM_133474		39	90	39	90	---	---	---	---
FGFRL1	53834	broad.mit.edu	37	4	1018425	1018425	+	Missense_Mutation	SNP	C	C	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr4:1018425C>T	ENST00000398484.2	+	7	1625	c.1045C>T	c.(1045-1047)Cgc>Tgc	p.R349C	FGFRL1_ENST00000264748.6_Missense_Mutation_p.R349C|FGFRL1_ENST00000504138.1_Missense_Mutation_p.R349C|FGFRL1_ENST00000510644.1_Missense_Mutation_p.R349C			Q8N441	FGRL1_HUMAN	fibroblast growth factor receptor-like 1	349	Ig-like C2-type 3.				diaphragm development (GO:0060539)|heart valve morphogenesis (GO:0003179)|negative regulation of cell proliferation (GO:0008285)|skeletal system development (GO:0001501)|ventricular septum morphogenesis (GO:0060412)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	fibroblast growth factor-activated receptor activity (GO:0005007)|heparin binding (GO:0008201)	p.R349C(1)|p.R319C(1)		endometrium(1)|lung(9)|ovary(1)|prostate(1)|skin(1)	13			OV - Ovarian serous cystadenocarcinoma(23;0.0158)			CTACAGCTTCCGCAGCGCCTT	0.692																																						uc003gce.2																			2	Substitution - Missense(2)		lung(2)		0						c.(1045-1047)CGC>TGC		fibroblast growth factor receptor-like 1							52.0	43.0	46.0					4																	1018425		2203	4297	6500	SO:0001583	missense	53834				regulation of cell growth	integral to membrane|plasma membrane	fibroblast growth factor receptor activity|heparin binding	g.chr4:1018425C>T		CCDS3344.1	4p16	2013-01-11			ENSG00000127418	ENSG00000127418		"""Immunoglobulin superfamily / I-set domain containing"""	3693	protein-coding gene	gene with protein product		605830					Standard	NM_021923		Approved		uc003gcg.3	Q8N441	OTTHUMG00000118998	ENST00000398484.2:c.1045C>T	4.37:g.1018425C>T	ENSP00000381498:p.Arg349Cys					FGFRL1_uc003gcf.2_Missense_Mutation_p.R349C|FGFRL1_uc003gcg.2_Missense_Mutation_p.R349C|FGFRL1_uc010ibo.2_Missense_Mutation_p.R349C	p.R349C	NM_021923	NP_068742	Q8N441	FGRL1_HUMAN	OV - Ovarian serous cystadenocarcinoma(23;0.0158)		6	1206	+			349			Ig-like C2-type 3.|Extracellular (Potential).		B2RAU9|Q6PJN1|Q9BXN7|Q9H4D7	Missense_Mutation	SNP	ENST00000398484.2	37	c.1045C>T	CCDS3344.1	.	.	.	.	.	.	.	.	.	.	c	21.3	4.131750	0.77662	.	.	ENSG00000127418	ENST00000398484;ENST00000542622;ENST00000510644;ENST00000504138;ENST00000264748	T;T;T;T	0.66460	-0.21;-0.21;-0.21;-0.21	5.38	4.53	0.55603	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.053684	0.64402	D	0.000001	T	0.70360	0.3215	L	0.33753	1.03	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	T	0.72037	-0.4411	10	0.87932	D	0	-35.9084	8.2673	0.31821	0.1546:0.7659:0.0:0.0795	.	349	Q8N441	FGRL1_HUMAN	C	349;319;349;349;349	ENSP00000381498:R349C;ENSP00000425025:R349C;ENSP00000423091:R349C;ENSP00000264748:R349C	ENSP00000264748:R349C	R	+	1	0	FGFRL1	1008425	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	1.763000	0.38461	1.269000	0.44280	0.586000	0.80456	CGC		PASS	0.692	FGFRL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239195.2	NM_021923		7	42	7	42	---	---	---	---
NSG1	27065	broad.mit.edu	37	4	4419021	4419021	+	Silent	SNP	C	C	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr4:4419021C>A	ENST00000421177.2	+	9	2408	c.417C>A	c.(415-417)gcC>gcA	p.A139A	NSG1_ENST00000504171.1_Silent_p.A100A|NSG1_ENST00000505246.1_Silent_p.A139A|STX18_ENST00000505286.1_Intron|NSG1_ENST00000506380.1_Silent_p.A139A|NSG1_ENST00000433139.2_Silent_p.A139A|NSG1_ENST00000397958.1_Silent_p.A139A|NSG1_ENST00000513555.1_Silent_p.A139A			P42857	NSG1_HUMAN		139					clathrin coat assembly (GO:0048268)|dopamine receptor signaling pathway (GO:0007212)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)		p.(=)(1)|p.A139A(1)									ACTCCAGTGCCCGGGAGAAAT	0.547																																						uc011bvz.1																			2	Unknown(1)|Substitution - coding silent(1)		lung(2)	ovary(1)	1						c.(415-417)GCC>GCA		brain neuron cytoplasmic protein 1							83.0	87.0	86.0					4																	4419021		2203	4300	6503	SO:0001819	synonymous_variant	27065				dopamine receptor signaling pathway	Golgi membrane|integral to membrane|nucleus	dopamine receptor binding	g.chr4:4419021C>A																												ENST00000421177.2:c.417C>A	4.37:g.4419021C>A						D4S234E_uc011bwa.1_Silent_p.A100A|D4S234E_uc003ghz.2_Silent_p.A139A|D4S234E_uc003gia.2_Silent_p.A139A|D4S234E_uc003gib.2_Silent_p.A139A	p.A139A	NM_014392	NP_055207	P42857	NSG1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (64;0.166)	8	1698	+			139			Lumenal (Potential).		B4DXC5|Q49AQ1	Silent	SNP	ENST00000421177.2	37	c.417C>A	CCDS3376.1																																																																																				PASS	0.547	NSG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000246799.1			11	120	11	120	---	---	---	---
EVC2	132884	broad.mit.edu	37	4	5564592	5564592	+	Missense_Mutation	SNP	C	C	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr4:5564592C>T	ENST00000344408.5	-	22	3963	c.3910G>A	c.(3910-3912)Gcc>Acc	p.A1304T	EVC2_ENST00000310917.2_Missense_Mutation_p.A1224T|EVC2_ENST00000344938.1_Intron	NM_147127.4	NP_667338.3	Q86UK5	LBN_HUMAN	Ellis van Creveld syndrome 2	1304					smoothened signaling pathway (GO:0007224)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)		p.A1304T(1)		NS(2)|breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(32)|lung(28)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	81						ATGCCCAAGGCCCTCATGGCC	0.483																																						uc003gij.2																			1	Substitution - Missense(1)		lung(1)	large_intestine(3)|ovary(2)	5						c.(3910-3912)GCC>ACC		limbin							74.0	76.0	75.0					4																	5564592		2203	4300	6503	SO:0001583	missense	132884					integral to membrane		g.chr4:5564592C>T	AB083067	CCDS3382.2, CCDS54718.1	4p16.2-p16.1	2008-08-01	2008-08-01		ENSG00000173040	ENSG00000173040			19747	protein-coding gene	gene with protein product		607261				12136126, 12571802	Standard	NM_147127		Approved	LBN	uc003gij.3	Q86UK5	OTTHUMG00000125493	ENST00000344408.5:c.3910G>A	4.37:g.5564592C>T	ENSP00000342144:p.Ala1304Thr					EVC2_uc011bwb.1_Missense_Mutation_p.A744T|EVC2_uc003gik.2_Missense_Mutation_p.A1224T	p.A1304T	NM_147127	NP_667338	Q86UK5	LBN_HUMAN			22	3964	-			1304					Q86YT3|Q86YT4|Q8NG49	Missense_Mutation	SNP	ENST00000344408.5	37	c.3910G>A	CCDS3382.2	.	.	.	.	.	.	.	.	.	.	C	22.4	4.279868	0.80692	.	.	ENSG00000173040	ENST00000310917;ENST00000344408	T;T	0.81163	-1.42;-1.46	4.57	3.73	0.42828	.	0.835878	0.10713	N	0.642640	T	0.70116	0.3187	L	0.29908	0.895	0.54753	D	0.999989	B	0.27997	0.197	B	0.21708	0.036	T	0.66650	-0.5870	10	0.72032	D	0.01	-9.4516	9.2713	0.37673	0.0:0.8962:0.0:0.1038	.	1304	Q86UK5	LBN_HUMAN	T	1224;1304	ENSP00000311683:A1224T;ENSP00000342144:A1304T	ENSP00000311683:A1224T	A	-	1	0	EVC2	5615493	0.633000	0.27181	0.551000	0.28230	0.377000	0.30045	0.956000	0.29202	1.249000	0.43950	0.655000	0.94253	GCC		PASS	0.483	EVC2-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000289822.2	NM_147127		40	85	40	85	---	---	---	---
EVC	2121	broad.mit.edu	37	4	5800437	5800437	+	Missense_Mutation	SNP	A	A	C			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr4:5800437A>C	ENST00000264956.6	+	15	2406	c.2222A>C	c.(2221-2223)gAg>gCg	p.E741A	EVC_ENST00000382674.2_Missense_Mutation_p.E741A|EVC_ENST00000515113.1_3'UTR	NM_153717.2	NP_714928.1	P57679	EVC_HUMAN	Ellis van Creveld syndrome	741					cartilage development (GO:0051216)|endochondral bone growth (GO:0003416)|muscle organ development (GO:0007517)|positive regulation of smoothened signaling pathway (GO:0045880)|skeletal system development (GO:0001501)|smoothened signaling pathway (GO:0007224)	ciliary basal body (GO:0036064)|cilium (GO:0005929)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.E741A(1)		NS(1)|breast(1)|endometrium(2)|large_intestine(10)|lung(11)|ovary(1)|skin(1)|stomach(1)	28		Myeloproliferative disorder(84;0.117)				CAGCACATGGAGTGCGCCATT	0.642																																						uc003gil.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(2221-2223)GAG>GCG		Ellis van Creveld syndrome protein							17.0	16.0	17.0					4																	5800437		2194	4288	6482	SO:0001583	missense	2121				muscle organ development	integral to membrane		g.chr4:5800437A>C	AF216184	CCDS3383.1	4p16	2008-07-03			ENSG00000072840	ENSG00000072840			3497	protein-coding gene	gene with protein product		604831				10700184	Standard	NM_153717		Approved	DWF-1	uc003gil.1	P57679	OTTHUMG00000090427	ENST00000264956.6:c.2222A>C	4.37:g.5800437A>C	ENSP00000264956:p.Glu741Ala					EVC_uc003gim.1_RNA|CRMP1_uc003gin.1_Intron	p.E741A	NM_153717	NP_714928	P57679	EVC_HUMAN			15	2406	+		Myeloproliferative disorder(84;0.117)	741						Missense_Mutation	SNP	ENST00000264956.6	37	c.2222A>C	CCDS3383.1	.	.	.	.	.	.	.	.	.	.	A	13.34	2.208421	0.39003	.	.	ENSG00000072840	ENST00000264956;ENST00000382674	T;T	0.57273	0.41;0.41	4.93	4.93	0.64822	.	0.135144	0.50627	D	0.000105	T	0.57257	0.2041	M	0.64997	1.995	0.80722	D	1	P	0.50156	0.932	P	0.48571	0.582	T	0.61836	-0.6981	10	0.56958	D	0.05	.	12.5367	0.56145	1.0:0.0:0.0:0.0	.	741	P57679	EVC_HUMAN	A	741	ENSP00000264956:E741A;ENSP00000372120:E741A	ENSP00000264956:E741A	E	+	2	0	EVC	5851338	0.977000	0.34250	0.121000	0.21740	0.039000	0.13416	4.835000	0.62781	1.844000	0.53588	0.459000	0.35465	GAG		PASS	0.642	EVC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206859.1			4	11	4	11	---	---	---	---
SH3TC1	54436	broad.mit.edu	37	4	8229084	8229084	+	Missense_Mutation	SNP	C	C	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr4:8229084C>T	ENST00000245105.3	+	12	1730	c.1663C>T	c.(1663-1665)Ctc>Ttc	p.L555F	SH3TC1_ENST00000539824.1_Missense_Mutation_p.L479F|SH3TC1_ENST00000514274.1_3'UTR	NM_018986.3	NP_061859	Q8TE82	S3TC1_HUMAN	SH3 domain and tetratricopeptide repeats 1	555								p.L555F(1)		NS(1)|breast(3)|endometrium(4)|kidney(4)|large_intestine(6)|lung(10)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33						GAAAGCTGGCCTCCTCATGGC	0.697																																					NSCLC(145;2298 2623 35616 37297)	uc003gkv.3																			1	Substitution - Missense(1)		lung(1)	large_intestine(2)|pancreas(1)	3						c.(1663-1665)CTC>TTC		SH3 domain and tetratricopeptide repeats 1							14.0	18.0	17.0					4																	8229084		2170	4264	6434	SO:0001583	missense	54436						binding	g.chr4:8229084C>T	AK074093	CCDS3399.1	4p16.1	2013-01-11			ENSG00000125089	ENSG00000125089		"""Tetratricopeptide (TTC) repeat domain containing"""	26009	protein-coding gene	gene with protein product							Standard	NM_018986		Approved	FLJ20356	uc003gkv.4	Q8TE82	OTTHUMG00000160934	ENST00000245105.3:c.1663C>T	4.37:g.8229084C>T	ENSP00000245105:p.Leu555Phe					SH3TC1_uc003gkw.3_Missense_Mutation_p.L479F|SH3TC1_uc003gkx.3_RNA|SH3TC1_uc003gky.2_5'Flank	p.L555F	NM_018986	NP_061859	Q8TE82	S3TC1_HUMAN			12	1764	+			555					Q4W5G5	Missense_Mutation	SNP	ENST00000245105.3	37	c.1663C>T	CCDS3399.1	.	.	.	.	.	.	.	.	.	.	C	3.094	-0.186205	0.06340	.	.	ENSG00000125089	ENST00000382516;ENST00000245105;ENST00000539824;ENST00000535265	D;D	0.82893	-1.66;-1.66	4.51	1.78	0.24846	.	0.178036	0.36338	N	0.002660	T	0.69260	0.3091	L	0.33485	1.01	0.09310	N	1	B	0.31077	0.307	B	0.31547	0.132	T	0.57148	-0.7861	10	0.38643	T	0.18	-15.4923	3.8664	0.09018	0.2764:0.4779:0.0:0.2457	.	555	Q8TE82	S3TC1_HUMAN	F	293;555;479;384	ENSP00000245105:L555F;ENSP00000441045:L479F	ENSP00000245105:L555F	L	+	1	0	SH3TC1	8279984	0.002000	0.14202	0.006000	0.13384	0.034000	0.12701	-0.092000	0.11129	0.033000	0.15463	-0.258000	0.10820	CTC		PASS	0.697	SH3TC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000206991.2	NM_018986		7	22	7	22	---	---	---	---
DEFB131	644414	broad.mit.edu	37	4	9452106	9452106	+	Missense_Mutation	SNP	G	G	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr4:9452106G>A	ENST00000334879.1	+	2	79	c.79G>A	c.(79-81)Gat>Aat	p.D27N		NM_001040448.2|NM_001242853.1	NP_001035538.2|NP_001229782.1	P59861	DB131_HUMAN	defensin, beta 131	27					defense response to bacterium (GO:0042742)	extracellular region (GO:0005576)		p.D27N(1)		lung(2)	2						CATTTCTAATGATGAATGTCC	0.308																																						uc011bwt.1																			1	Substitution - Missense(1)		lung(1)		0						c.(79-81)GAT>AAT		defensin, beta 131 precursor							35.0	29.0	30.0					4																	9452106		1816	4071	5887	SO:0001583	missense	644414				defense response to bacterium	extracellular region		g.chr4:9452106G>A	AF529414	CCDS43213.1	4p16.1	2010-03-30			ENSG00000186146	ENSG00000186146		"""Defensins, beta"""	18108	protein-coding gene	gene with protein product						11854508, 16033865, 12600824	Standard	NM_001040448		Approved	DEFB-31	uc011bwt.2	P59861	OTTHUMG00000160187	ENST00000334879.1:c.79G>A	4.37:g.9452106G>A	ENSP00000335538:p.Asp27Asn						p.D27N	NM_001040448	NP_001035538	P59861	DB131_HUMAN			2	79	+			27						Missense_Mutation	SNP	ENST00000334879.1	37	c.79G>A	CCDS43213.1	.	.	.	.	.	.	.	.	.	.	.	2.837	-0.241398	0.05906	.	.	ENSG00000186146	ENST00000334879	.	.	.	0.42	-0.753	0.11068	.	.	.	.	.	T	0.15046	0.0363	.	.	.	0.09310	N	1	P	0.41524	0.753	B	0.30646	0.118	T	0.11299	-1.0593	6	0.46703	T	0.11	.	.	.	.	.	27	P59861	DB131_HUMAN	N	27	.	ENSP00000335538:D27N	D	+	1	0	DEFB131	9061204	0.000000	0.05858	0.004000	0.12327	0.076000	0.17211	-1.297000	0.02759	-0.421000	0.07416	0.162000	0.16502	GAT		PASS	0.308	DEFB131-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359607.1	NM_001040448		4	50	4	50	---	---	---	---
PROM1	8842	broad.mit.edu	37	4	15995679	15995679	+	Silent	SNP	A	A	G			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr4:15995679A>G	ENST00000510224.1	-	16	1946	c.1698T>C	c.(1696-1698)aaT>aaC	p.N566N	PROM1_ENST00000543373.1_Silent_p.N557N|PROM1_ENST00000508167.1_Silent_p.N557N|PROM1_ENST00000540805.1_Silent_p.N566N|PROM1_ENST00000539194.1_Silent_p.N566N|PROM1_ENST00000447510.2_Silent_p.N566N|PROM1_ENST00000505450.1_Silent_p.N557N			O43490	PROM1_HUMAN	prominin 1	566					camera-type eye photoreceptor cell differentiation (GO:0060219)|glomerular parietal epithelial cell differentiation (GO:0072139)|glomerular visceral epithelial cell differentiation (GO:0072112)|photoreceptor cell maintenance (GO:0045494)|positive regulation of nephron tubule epithelial cell differentiation (GO:2000768)|retina layer formation (GO:0010842)|retina morphogenesis in camera-type eye (GO:0060042)	apical plasma membrane (GO:0016324)|brush border (GO:0005903)|cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|photoreceptor outer segment (GO:0001750)|photoreceptor outer segment membrane (GO:0042622)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)|vesicle (GO:0031982)	actinin binding (GO:0042805)|cadherin binding (GO:0045296)	p.N565N(2)		breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(4)|liver(1)|lung(11)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(2)	35						AAGTGCCTCTATTTTTTTTGC	0.423																																						uc003goo.2																			2	Substitution - coding silent(2)		lung(1)|endometrium(1)	ovary(3)|upper_aerodigestive_tract(1)|lung(1)|kidney(1)|central_nervous_system(1)	7						c.(1696-1698)AAT>AAC		prominin 1 isoform 1							191.0	189.0	190.0					4																	15995679		1901	4121	6022	SO:0001819	synonymous_variant	8842				camera-type eye photoreceptor cell differentiation|photoreceptor cell maintenance|retina layer formation	apical plasma membrane|cell surface|integral to plasma membrane|microvillus membrane|photoreceptor outer segment membrane|plasma membrane	beta-actinin binding|cadherin binding	g.chr4:15995679A>G	AF027208	CCDS47029.1, CCDS54746.1, CCDS54747.1, CCDS54748.1	4p15	2013-06-06	2001-11-28	2003-03-28	ENSG00000007062	ENSG00000007062		"""CD molecules"""	9454	protein-coding gene	gene with protein product		604365	"""prominin (mouse)-like 1"", ""macular dystrophy, retinal 2"", ""Stargardt disease 4 (autosomal dominant)"""	PROML1, MCDR2, STGD4		11467842	Standard	NM_006017		Approved	AC133, CD133, RP41, CORD12	uc003goo.2	O43490	OTTHUMG00000160180	ENST00000510224.1:c.1698T>C	4.37:g.15995679A>G						PROM1_uc003gor.2_Silent_p.N566N|PROM1_uc003gos.2_Silent_p.N557N|PROM1_uc003got.2_Silent_p.N566N|PROM1_uc003gou.2_Silent_p.N557N|PROM1_uc003gop.2_Silent_p.N557N|PROM1_uc003goq.3_Silent_p.N557N	p.N566N	NM_006017	NP_006008	O43490	PROM1_HUMAN			15	1910	-			566			Extracellular (Potential).		Q6SV49|Q6SV50|Q6SV51|Q6SV52|Q6SV53|Q96EN6	Silent	SNP	ENST00000510224.1	37	c.1698T>C	CCDS47029.1																																																																																				PASS	0.423	PROM1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000359595.2	NM_006017		37	73	37	73	---	---	---	---
CLRN2	645104	broad.mit.edu	37	4	17528607	17528607	+	Missense_Mutation	SNP	G	G	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr4:17528607G>T	ENST00000511148.2	+	3	703	c.601G>T	c.(601-603)Gca>Tca	p.A201S	snoU13_ENST00000459186.1_RNA	NM_001079827.2	NP_001073296.1	A0PK11	CLRN2_HUMAN	clarin 2	201						integral component of membrane (GO:0016021)		p.A218S(1)		breast(1)|kidney(1)|large_intestine(3)|lung(8)|pancreas(1)|upper_aerodigestive_tract(1)	15						GGCCCATGCTGCAAACTTGGT	0.493																																						uc003gpg.1																			1	Substitution - Missense(1)		lung(1)		0						c.(601-603)GCA>TCA		clarin 2							116.0	122.0	120.0					4																	17528607		2160	4258	6418	SO:0001583	missense	645104					integral to membrane		g.chr4:17528607G>T		CCDS47032.1	4p15.32	2008-01-17			ENSG00000249581	ENSG00000249581			33939	protein-coding gene	gene with protein product						12080385	Standard	NM_001079827		Approved		uc003gpg.1	A0PK11	OTTHUMG00000160273	ENST00000511148.2:c.601G>T	4.37:g.17528607G>T	ENSP00000424711:p.Ala201Ser						p.A201S	NM_001079827	NP_001073296	A0PK11	CLRN2_HUMAN			3	703	+			201			Helical; (Potential).			Missense_Mutation	SNP	ENST00000511148.2	37	c.601G>T	CCDS47032.1	.	.	.	.	.	.	.	.	.	.	G	10.49	1.363815	0.24684	.	.	ENSG00000249581	ENST00000511148	T	0.76448	-1.02	5.76	3.95	0.45737	.	0.165679	0.52532	D	0.000066	T	0.69806	0.3152	L	0.50333	1.59	0.24015	N	0.996169	B	0.25351	0.124	B	0.28305	0.088	T	0.61008	-0.7149	10	0.46703	T	0.11	-3.8235	6.7368	0.23413	0.1542:0.0:0.7062:0.1396	.	201	A0PK11	CLRN2_HUMAN	S	201	ENSP00000424711:A201S	ENSP00000424711:A201S	A	+	1	0	CLRN2	17137705	0.998000	0.40836	0.008000	0.14137	0.158000	0.22134	4.060000	0.57477	0.715000	0.32103	0.655000	0.94253	GCA		PASS	0.493	CLRN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359990.2	NM_001079827		25	51	25	51	---	---	---	---
SLIT2	9353	broad.mit.edu	37	4	20618799	20618799	+	Missense_Mutation	SNP	A	A	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr4:20618799A>T	ENST00000504154.1	+	35	4366	c.4114A>T	c.(4114-4116)Aat>Tat	p.N1372Y	SLIT2_ENST00000503823.1_Missense_Mutation_p.N1364Y|SLIT2_ENST00000503837.1_Missense_Mutation_p.N1368Y|SLIT2_ENST00000273739.5_Missense_Mutation_p.N1385Y	NM_004787.1	NP_004778.1	O94813	SLIT2_HUMAN	slit homolog 2 (Drosophila)	1372					apoptotic process involved in luteolysis (GO:0061364)|axon extension involved in axon guidance (GO:0048846)|axon guidance (GO:0007411)|branching morphogenesis of an epithelial tube (GO:0048754)|cell migration involved in sprouting angiogenesis (GO:0002042)|cellular response to heparin (GO:0071504)|cellular response to hormone stimulus (GO:0032870)|chemorepulsion involved in postnatal olfactory bulb interneuron migration (GO:0021836)|corticospinal neuron axon guidance through spinal cord (GO:0021972)|dorsal/ventral axon guidance (GO:0033563)|in utero embryonic development (GO:0001701)|induction of negative chemotaxis (GO:0050929)|mammary duct terminal end bud growth (GO:0060763)|metanephros development (GO:0001656)|motor neuron axon guidance (GO:0008045)|negative chemotaxis (GO:0050919)|negative regulation of actin filament polymerization (GO:0030837)|negative regulation of axon extension (GO:0030517)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cell growth (GO:0030308)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cellular response to growth factor stimulus (GO:0090288)|negative regulation of chemokine-mediated signaling pathway (GO:0070100)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of gene expression (GO:0010629)|negative regulation of lamellipodium assembly (GO:0010593)|negative regulation of leukocyte chemotaxis (GO:0002689)|negative regulation of monocyte chemotaxis (GO:0090027)|negative regulation of mononuclear cell migration (GO:0071676)|negative regulation of neutrophil chemotaxis (GO:0090024)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of retinal ganglion cell axon guidance (GO:0090260)|negative regulation of small GTPase mediated signal transduction (GO:0051058)|negative regulation of smooth muscle cell chemotaxis (GO:0071672)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of vascular permeability (GO:0043116)|positive regulation of apoptotic process (GO:0043065)|positive regulation of axonogenesis (GO:0050772)|response to cortisol (GO:0051414)|retinal ganglion cell axon guidance (GO:0031290)|Roundabout signaling pathway (GO:0035385)|single organismal cell-cell adhesion (GO:0016337)|ureteric bud development (GO:0001657)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|chemorepellent activity (GO:0045499)|GTPase inhibitor activity (GO:0005095)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|laminin-1 binding (GO:0043237)|protein homodimerization activity (GO:0042803)|proteoglycan binding (GO:0043394)|Roundabout binding (GO:0048495)	p.N1372Y(1)		NS(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(17)|lung(60)|ovary(3)|pancreas(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	116						CCAACGGACCAATGACCCTTG	0.552																																						uc003gpr.1																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(4)|skin(4)|ovary(3)	11						c.(4114-4116)AAT>TAT		slit homolog 2 precursor							61.0	63.0	63.0					4																	20618799		2202	4300	6502	SO:0001583	missense	9353				apoptosis involved in luteolysis|axon extension involved in axon guidance|branching morphogenesis of a tube|cell migration involved in sprouting angiogenesis|cellular response to heparin|cellular response to hormone stimulus|chemorepulsion involved in postnatal olfactory bulb interneuron migration|corticospinal neuron axon guidance through spinal cord|induction of negative chemotaxis|motor axon guidance|negative regulation of actin filament polymerization|negative regulation of cell growth|negative regulation of cellular response to growth factor stimulus|negative regulation of chemokine-mediated signaling pathway|negative regulation of endothelial cell migration|negative regulation of lamellipodium assembly|negative regulation of mononuclear cell migration|negative regulation of neutrophil chemotaxis|negative regulation of protein phosphorylation|negative regulation of retinal ganglion cell axon guidance|negative regulation of small GTPase mediated signal transduction|negative regulation of smooth muscle cell chemotaxis|negative regulation of vascular permeability|positive regulation of apoptosis|positive regulation of axonogenesis|response to cortisol stimulus|retinal ganglion cell axon guidance|Roundabout signaling pathway|ureteric bud development	cell surface|cytoplasm|extracellular space|plasma membrane	calcium ion binding|GTPase inhibitor activity|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan binding|Roundabout binding	g.chr4:20618799A>T	AF055585	CCDS3426.1, CCDS75110.1, CCDS75111.1	4p15.2	2008-08-01	2001-11-28		ENSG00000145147	ENSG00000145147			11086	protein-coding gene	gene with protein product		603746	"""slit (Drosophila) homolog 2"""	SLIL3		9813312, 18269211	Standard	XM_005248211		Approved	Slit-2	uc003gpr.1	O94813	OTTHUMG00000128551	ENST00000504154.1:c.4114A>T	4.37:g.20618799A>T	ENSP00000422591:p.Asn1372Tyr					SLIT2_uc003gps.1_Missense_Mutation_p.N1364Y	p.N1372Y	NM_004787	NP_004778	O94813	SLIT2_HUMAN			35	4318	+			1372					B7ZLR5|O95710|Q17RU3|Q9Y5Q7	Missense_Mutation	SNP	ENST00000504154.1	37	c.4114A>T	CCDS3426.1	.	.	.	.	.	.	.	.	.	.	A	15.66	2.898525	0.52227	.	.	ENSG00000145147	ENST00000503823;ENST00000504154;ENST00000273739;ENST00000382173;ENST00000503837	D;D;D;D	0.91464	-2.85;-2.85;-2.85;-2.85	6.05	4.85	0.62838	Epidermal growth factor-like, type 3 (1);	0.042459	0.85682	D	0.000000	D	0.89413	0.6708	L	0.43152	1.355	0.58432	D	0.999998	B;P	0.47253	0.419;0.892	B;P	0.47430	0.187;0.547	D	0.89374	0.3677	10	0.72032	D	0.01	.	13.472	0.61287	0.8693:0.1307:0.0:0.0	.	1364;1372	O94813-3;O94813	.;SLIT2_HUMAN	Y	1364;1372;1385;1368;1368	ENSP00000427548:N1364Y;ENSP00000422591:N1372Y;ENSP00000273739:N1385Y;ENSP00000422261:N1368Y	ENSP00000273739:N1385Y	N	+	1	0	SLIT2	20227897	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	3.821000	0.55700	1.091000	0.41335	0.528000	0.53228	AAT		PASS	0.552	SLIT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250396.2			22	61	22	61	---	---	---	---
SLIT2	9353	broad.mit.edu	37	4	20620619	20620619	+	Missense_Mutation	SNP	G	G	C	rs374092950		TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr4:20620619G>C	ENST00000504154.1	+	37	4829	c.4577G>C	c.(4576-4578)aGg>aCg	p.R1526T	SLIT2_ENST00000503823.1_Missense_Mutation_p.R1518T|SLIT2_ENST00000503837.1_Missense_Mutation_p.R1522T|SLIT2_ENST00000273739.5_Missense_Mutation_p.R1539T	NM_004787.1	NP_004778.1	O94813	SLIT2_HUMAN	slit homolog 2 (Drosophila)	1526	CTCK. {ECO:0000255|PROSITE- ProRule:PRU00039, ECO:0000305}.				apoptotic process involved in luteolysis (GO:0061364)|axon extension involved in axon guidance (GO:0048846)|axon guidance (GO:0007411)|branching morphogenesis of an epithelial tube (GO:0048754)|cell migration involved in sprouting angiogenesis (GO:0002042)|cellular response to heparin (GO:0071504)|cellular response to hormone stimulus (GO:0032870)|chemorepulsion involved in postnatal olfactory bulb interneuron migration (GO:0021836)|corticospinal neuron axon guidance through spinal cord (GO:0021972)|dorsal/ventral axon guidance (GO:0033563)|in utero embryonic development (GO:0001701)|induction of negative chemotaxis (GO:0050929)|mammary duct terminal end bud growth (GO:0060763)|metanephros development (GO:0001656)|motor neuron axon guidance (GO:0008045)|negative chemotaxis (GO:0050919)|negative regulation of actin filament polymerization (GO:0030837)|negative regulation of axon extension (GO:0030517)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cell growth (GO:0030308)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cellular response to growth factor stimulus (GO:0090288)|negative regulation of chemokine-mediated signaling pathway (GO:0070100)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of gene expression (GO:0010629)|negative regulation of lamellipodium assembly (GO:0010593)|negative regulation of leukocyte chemotaxis (GO:0002689)|negative regulation of monocyte chemotaxis (GO:0090027)|negative regulation of mononuclear cell migration (GO:0071676)|negative regulation of neutrophil chemotaxis (GO:0090024)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of retinal ganglion cell axon guidance (GO:0090260)|negative regulation of small GTPase mediated signal transduction (GO:0051058)|negative regulation of smooth muscle cell chemotaxis (GO:0071672)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of vascular permeability (GO:0043116)|positive regulation of apoptotic process (GO:0043065)|positive regulation of axonogenesis (GO:0050772)|response to cortisol (GO:0051414)|retinal ganglion cell axon guidance (GO:0031290)|Roundabout signaling pathway (GO:0035385)|single organismal cell-cell adhesion (GO:0016337)|ureteric bud development (GO:0001657)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|chemorepellent activity (GO:0045499)|GTPase inhibitor activity (GO:0005095)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|laminin-1 binding (GO:0043237)|protein homodimerization activity (GO:0042803)|proteoglycan binding (GO:0043394)|Roundabout binding (GO:0048495)	p.R1526T(1)		NS(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(17)|lung(60)|ovary(3)|pancreas(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	116						GGCTGTACGAGGTGTGTGTCC	0.498																																						uc003gpr.1																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(4)|skin(4)|ovary(3)	11						c.(4576-4578)AGG>ACG		slit homolog 2 precursor		G	THR/ARG	0,4406		0,0,2203	103.0	92.0	96.0		4577	3.2	0.4	4		96	1,8599	1.2+/-3.3	0,1,4299	no	missense	SLIT2	NM_004787.1	71	0,1,6502	CC,CG,GG		0.0116,0.0,0.0077	benign	1526/1530	20620619	1,13005	2203	4300	6503	SO:0001583	missense	9353				apoptosis involved in luteolysis|axon extension involved in axon guidance|branching morphogenesis of a tube|cell migration involved in sprouting angiogenesis|cellular response to heparin|cellular response to hormone stimulus|chemorepulsion involved in postnatal olfactory bulb interneuron migration|corticospinal neuron axon guidance through spinal cord|induction of negative chemotaxis|motor axon guidance|negative regulation of actin filament polymerization|negative regulation of cell growth|negative regulation of cellular response to growth factor stimulus|negative regulation of chemokine-mediated signaling pathway|negative regulation of endothelial cell migration|negative regulation of lamellipodium assembly|negative regulation of mononuclear cell migration|negative regulation of neutrophil chemotaxis|negative regulation of protein phosphorylation|negative regulation of retinal ganglion cell axon guidance|negative regulation of small GTPase mediated signal transduction|negative regulation of smooth muscle cell chemotaxis|negative regulation of vascular permeability|positive regulation of apoptosis|positive regulation of axonogenesis|response to cortisol stimulus|retinal ganglion cell axon guidance|Roundabout signaling pathway|ureteric bud development	cell surface|cytoplasm|extracellular space|plasma membrane	calcium ion binding|GTPase inhibitor activity|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan binding|Roundabout binding	g.chr4:20620619G>C	AF055585	CCDS3426.1, CCDS75110.1, CCDS75111.1	4p15.2	2008-08-01	2001-11-28		ENSG00000145147	ENSG00000145147			11086	protein-coding gene	gene with protein product		603746	"""slit (Drosophila) homolog 2"""	SLIL3		9813312, 18269211	Standard	XM_005248211		Approved	Slit-2	uc003gpr.1	O94813	OTTHUMG00000128551	ENST00000504154.1:c.4577G>C	4.37:g.20620619G>C	ENSP00000422591:p.Arg1526Thr					SLIT2_uc003gps.1_Missense_Mutation_p.R1518T	p.R1526T	NM_004787	NP_004778	O94813	SLIT2_HUMAN			37	4781	+			1526			CTCK.		B7ZLR5|O95710|Q17RU3|Q9Y5Q7	Missense_Mutation	SNP	ENST00000504154.1	37	c.4577G>C	CCDS3426.1	.	.	.	.	.	.	.	.	.	.	G	5.699	0.313414	0.10789	0.0	1.16E-4	ENSG00000145147	ENST00000503823;ENST00000504154;ENST00000273739;ENST00000382173;ENST00000503837	T;T;T;T	0.80738	-1.39;-1.41;-1.32;-1.37	5.88	3.18	0.36537	Cystine knot, C-terminal (3);	0.197725	0.49916	D	0.000127	T	0.62356	0.2421	N	0.19112	0.55	0.38689	D	0.952716	B;B	0.21905	0.062;0.008	B;B	0.22152	0.038;0.008	T	0.54390	-0.8301	10	0.33141	T	0.24	.	3.5558	0.07863	0.3219:0.1905:0.4875:0.0	.	1518;1526	O94813-3;O94813	.;SLIT2_HUMAN	T	1518;1526;1539;1522;1522	ENSP00000427548:R1518T;ENSP00000422591:R1526T;ENSP00000273739:R1539T;ENSP00000422261:R1522T	ENSP00000273739:R1539T	R	+	2	0	SLIT2	20229717	0.966000	0.33281	0.378000	0.26068	0.183000	0.23260	2.380000	0.44327	0.797000	0.33971	0.650000	0.86243	AGG		PASS	0.498	SLIT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250396.2			27	63	27	63	---	---	---	---
PDS5A	23244	broad.mit.edu	37	4	39868592	39868592	+	Missense_Mutation	SNP	C	C	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr4:39868592C>A	ENST00000303538.8	-	23	3070	c.2531G>T	c.(2530-2532)aGg>aTg	p.R844M		NM_001100399.1	NP_001093869.1			PDS5, regulator of cohesion maintenance, homolog A (S. cerevisiae)									p.R844M(1)		breast(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(9)|lung(14)|prostate(3)|skin(1)|urinary_tract(1)	39						CAACAGCCACCTTACCAGAAG	0.343																																						uc003guv.3																			1	Substitution - Missense(1)		lung(1)		0						c.(2530-2532)AGG>ATG		PDS5, regulator of cohesion maintenance, homolog							64.0	57.0	59.0					4																	39868592		1835	4086	5921	SO:0001583	missense	23244				cell division|mitosis|negative regulation of DNA replication	chromatin|nucleus	identical protein binding	g.chr4:39868592C>A	AF294791	CCDS47045.1, CCDS54759.1	4p14	2007-06-20			ENSG00000121892	ENSG00000121892			29088	protein-coding gene	gene with protein product		613200				11076961, 15855230	Standard	NM_001100399		Approved	KIAA0648, PIG54, SCC-112	uc003guv.4	Q29RF7	OTTHUMG00000160582	ENST00000303538.8:c.2531G>T	4.37:g.39868592C>A	ENSP00000303427:p.Arg844Met					PDS5A_uc010ifo.2_Missense_Mutation_p.R804M	p.R844M	NM_001100399	NP_001093869	Q29RF7	PDS5A_HUMAN			23	3071	-			844						Missense_Mutation	SNP	ENST00000303538.8	37	c.2531G>T	CCDS47045.1	.	.	.	.	.	.	.	.	.	.	C	35	5.420308	0.96111	.	.	ENSG00000121892	ENST00000303538	T	0.65364	-0.15	5.71	5.71	0.89125	Armadillo-like helical (1);Armadillo-type fold (1);	0.042931	0.85682	D	0.000000	T	0.80618	0.4657	M	0.77313	2.365	0.80722	D	1	D	0.89917	1.0	D	0.79784	0.993	T	0.79831	-0.1637	9	.	.	.	-12.8434	19.8489	0.96731	0.0:1.0:0.0:0.0	.	844	Q29RF7	PDS5A_HUMAN	M	844	ENSP00000303427:R844M	.	R	-	2	0	PDS5A	39544987	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.814000	0.86154	2.689000	0.91719	0.655000	0.94253	AGG		PASS	0.343	PDS5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361287.1	NM_015200		7	24	7	24	---	---	---	---
N4BP2	55728	broad.mit.edu	37	4	40121773	40121773	+	Missense_Mutation	SNP	C	C	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr4:40121773C>A	ENST00000261435.6	+	9	2458	c.2042C>A	c.(2041-2043)cCa>cAa	p.P681Q		NM_018177.4	NP_060647.2	Q86UW6	N4BP2_HUMAN	NEDD4 binding protein 2	681					nucleic acid phosphodiester bond hydrolysis (GO:0090305)|phosphorylation (GO:0016310)	cytosol (GO:0005829)	ATP binding (GO:0005524)|ATP-dependent polydeoxyribonucleotide 5'-hydroxyl-kinase activity (GO:0046404)|endonuclease activity (GO:0004519)	p.P681Q(1)		breast(4)|endometrium(3)|kidney(12)|large_intestine(7)|liver(2)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)	60						CTGGAAACTCCACACATGTAT	0.338																																						uc003guy.3																			1	Substitution - Missense(1)		lung(1)	lung(3)|breast(2)|kidney(2)|ovary(1)	8						c.(2041-2043)CCA>CAA		Nedd4 binding protein 2							66.0	74.0	71.0					4																	40121773		2203	4300	6503	SO:0001583	missense	55728					cytoplasm	ATP binding|ATP-dependent polydeoxyribonucleotide 5'-hydroxyl-kinase activity|endonuclease activity|protein binding	g.chr4:40121773C>A	AB037834	CCDS3457.1	4p14	2008-01-18			ENSG00000078177	ENSG00000078177			29851	protein-coding gene	gene with protein product	"""BCL-3 binding protein"""					10718198, 11717310	Standard	NM_018177		Approved	B3BP	uc003guy.4	Q86UW6	OTTHUMG00000128599	ENST00000261435.6:c.2042C>A	4.37:g.40121773C>A	ENSP00000261435:p.Pro681Gln					N4BP2_uc010ifq.2_Missense_Mutation_p.P601Q|N4BP2_uc010ifr.2_Missense_Mutation_p.P601Q	p.P681Q	NM_018177	NP_060647	Q86UW6	N4BP2_HUMAN			9	2380	+			681					A0AVR3|Q9NVK2|Q9P2D4	Missense_Mutation	SNP	ENST00000261435.6	37	c.2042C>A	CCDS3457.1	.	.	.	.	.	.	.	.	.	.	C	11.90	1.776453	0.31411	.	.	ENSG00000078177	ENST00000261435;ENST00000381804	T	0.18960	2.18	5.93	2.1	0.27182	.	1.237490	0.05351	N	0.531938	T	0.19327	0.0464	L	0.43152	1.355	0.09310	N	1	P;P	0.40834	0.73;0.61	B;B	0.39258	0.295;0.154	T	0.22556	-1.0213	10	0.34782	T	0.22	1.2125	6.0677	0.19871	0.0:0.4474:0.1661:0.3865	.	681;681	Q86UW6-2;Q86UW6	.;N4BP2_HUMAN	Q	681;601	ENSP00000261435:P681Q	ENSP00000261435:P681Q	P	+	2	0	N4BP2	39798168	0.001000	0.12720	0.000000	0.03702	0.539000	0.34962	0.210000	0.17455	0.382000	0.24878	0.555000	0.69702	CCA		PASS	0.338	N4BP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250458.2	NM_018177		40	96	40	96	---	---	---	---
RHOH	399	broad.mit.edu	37	4	40245257	40245257	+	Missense_Mutation	SNP	C	C	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr4:40245257C>A	ENST00000381799.5	+	3	975	c.251C>A	c.(250-252)tCt>tAt	p.S84Y	RHOH_ENST00000505618.1_Missense_Mutation_p.S84Y	NM_001278363.1|NM_001278365.1|NM_001278366.1|NM_001278367.1|NM_001278369.1|NM_004310.4	NP_001265292.1|NP_001265294.1|NP_001265295.1|NP_001265296.1|NP_001265298.1|NP_004301.1	Q15669	RHOH_HUMAN	ras homolog family member H	84	Interaction with ZAP70. {ECO:0000250}.				mast cell activation (GO:0045576)|negative regulation of catalytic activity (GO:0043086)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of phosphorylation (GO:0042326)|regulation of small GTPase mediated signal transduction (GO:0051056)|regulation of transcription, DNA-templated (GO:0006355)|small GTPase mediated signal transduction (GO:0007264)|T cell differentiation (GO:0030217)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|immunological synapse (GO:0001772)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|GTPase inhibitor activity (GO:0005095)|kinase inhibitor activity (GO:0019210)|Rho GTPase binding (GO:0017048)	p.S84Y(1)		kidney(1)|large_intestine(3)|lung(7)|ovary(1)	12						ATGTGCTACTCTGTGGCCAAC	0.567																																						uc003guz.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|lung(1)	2						c.(250-252)TCT>TAT		ras homolog gene family, member H precursor							98.0	85.0	89.0					4																	40245257		2203	4300	6503	SO:0001583	missense	399				negative regulation of I-kappaB kinase/NF-kappaB cascade|regulation of small GTPase mediated signal transduction|regulation of transcription, DNA-dependent|small GTPase mediated signal transduction|T cell differentiation	cytosol|mitochondrion|plasma membrane	GTP binding|GTPase inhibitor activity|kinase inhibitor activity|Rho GTPase binding	g.chr4:40245257C>A	Z35227	CCDS3458.1	4p13	2014-09-17	2012-02-27	2004-03-24	ENSG00000168421	ENSG00000168421			686	protein-coding gene	gene with protein product		602037	"""ras homolog gene family, member H"""	ARHH		7784061	Standard	NM_001278359		Approved	RhoH, TTF	uc003guz.2	Q15669	OTTHUMG00000099373	ENST00000381799.5:c.251C>A	4.37:g.40245257C>A	ENSP00000371219:p.Ser84Tyr						p.S84Y	NM_004310	NP_004301	Q15669	RHOH_HUMAN			3	975	+			84			Interaction with ZAP70 (By similarity).			Missense_Mutation	SNP	ENST00000381799.5	37	c.251C>A	CCDS3458.1	.	.	.	.	.	.	.	.	.	.	c	25.2	4.614170	0.87359	.	.	ENSG00000168421	ENST00000505618;ENST00000507851;ENST00000503941;ENST00000381799	T;T;T;T	0.72725	-0.68;-0.68;-0.68;-0.68	5.74	5.74	0.90152	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.91666	0.7366	H	0.99169	4.455	0.80722	D	1	D	0.69078	0.997	D	0.81914	0.995	D	0.94737	0.7915	10	0.87932	D	0	.	19.9283	0.97112	0.0:1.0:0.0:0.0	.	84	Q15669	RHOH_HUMAN	Y	84	ENSP00000425010:S84Y;ENSP00000423384:S84Y;ENSP00000426439:S84Y;ENSP00000371219:S84Y	ENSP00000371219:S84Y	S	+	2	0	RHOH	39921652	1.000000	0.71417	0.992000	0.48379	0.993000	0.82548	7.487000	0.81328	2.708000	0.92522	0.585000	0.79938	TCT		PASS	0.567	RHOH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216820.3	NM_004310		11	38	11	38	---	---	---	---
KCTD8	386617	broad.mit.edu	37	4	44450284	44450284	+	Missense_Mutation	SNP	C	C	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr4:44450284C>A	ENST00000360029.3	-	1	540	c.257G>T	c.(256-258)cGg>cTg	p.R86L	AC131951.1_ENST00000584757.1_RNA	NM_198353.2	NP_938167.1	Q6ZWB6	KCTD8_HUMAN	potassium channel tetramerization domain containing 8	86	BTB.				protein homooligomerization (GO:0051260)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)	cell junction (GO:0030054)|postsynaptic membrane (GO:0045211)|receptor complex (GO:0043235)		p.R86L(1)		central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(5)|lung(19)|ovary(1)|prostate(3)|upper_aerodigestive_tract(4)	41						CAGCTcgccccggcgccgggc	0.647										HNSCC(17;0.042)																												uc003gwu.2																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(2)|ovary(1)	3						c.(256-258)CGG>CTG		potassium channel tetramerisation domain							8.0	10.0	9.0					4																	44450284		2104	4154	6258	SO:0001583	missense	386617					cell junction|postsynaptic membrane|presynaptic membrane|voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr4:44450284C>A	AK123347	CCDS3467.1	4p13	2013-06-20	2013-06-20		ENSG00000183783	ENSG00000183783			22394	protein-coding gene	gene with protein product			"""potassium channel tetramerisation domain containing 8"""				Standard	NM_198353		Approved		uc003gwu.3	Q6ZWB6	OTTHUMG00000099409	ENST00000360029.3:c.257G>T	4.37:g.44450284C>A	ENSP00000353129:p.Arg86Leu	HNSCC(17;0.042)					p.R86L	NM_198353	NP_938167	Q6ZWB6	KCTD8_HUMAN			1	541	-			86			BTB.		A2RU39	Missense_Mutation	SNP	ENST00000360029.3	37	c.257G>T	CCDS3467.1	.	.	.	.	.	.	.	.	.	.	C	14.48	2.547539	0.45383	.	.	ENSG00000183783	ENST00000360029	T	0.77750	-1.12	3.41	3.41	0.39046	BTB/POZ-like (1);BTB/POZ fold (2);Potassium channel, voltage dependent, Kv, tetramerisation (1);	0.000000	0.39341	N	0.001387	T	0.66406	0.2786	N	0.14661	0.345	0.37489	D	0.916316	P	0.46952	0.887	P	0.46172	0.506	T	0.74103	-0.3773	10	0.56958	D	0.05	.	12.1026	0.53794	0.0:1.0:0.0:0.0	.	86	Q6ZWB6	KCTD8_HUMAN	L	86	ENSP00000353129:R86L	ENSP00000353129:R86L	R	-	2	0	KCTD8	44145041	0.112000	0.22096	1.000000	0.80357	0.996000	0.88848	0.161000	0.16481	1.703000	0.51240	0.467000	0.42956	CGG		PASS	0.647	KCTD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216868.1			5	10	5	10	---	---	---	---
YIPF7	285525	broad.mit.edu	37	4	44626800	44626800	+	Splice_Site	SNP	C	C	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr4:44626800C>A	ENST00000332990.5	-	5	515		c.e5-1		YIPF7_ENST00000415895.4_Splice_Site	NM_182592.2	NP_872398.2	Q8N8F6	YIPF7_HUMAN	Yip1 domain family, member 7							endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)		p.?(1)		breast(1)|large_intestine(1)|lung(9)|upper_aerodigestive_tract(1)	12						CTTTTCCTGCCTGAAACGACG	0.453																																						uc010ifx.1																			1	Unknown(1)		lung(1)		0						c.e5-1		Yip1 domain family, member 7							71.0	68.0	69.0					4																	44626800		1992	4176	6168	SO:0001630	splice_region_variant	285525					endoplasmic reticulum membrane|integral to membrane		g.chr4:44626800C>A	AK096895	CCDS54766.1	4p13	2008-08-07			ENSG00000177752	ENSG00000177752		"""Yip1 domain family"""	26825	protein-coding gene	gene with protein product							Standard	NM_182592		Approved	FLJ39576, FinGER9	uc021xnx.1	Q8N8F6	OTTHUMG00000160467	ENST00000332990.5:c.499-1G>T	4.37:g.44626800C>A							p.A167_splice	NM_182592	NP_872398	Q8N8F6	YIPF7_HUMAN			5	516	-								Q3SY21|Q3SY22	Splice_Site	SNP	ENST00000332990.5	37	c.499_splice	CCDS54766.1	.	.	.	.	.	.	.	.	.	.	C	19.46	3.832715	0.71258	.	.	ENSG00000177752	ENST00000415895;ENST00000332990	.	.	.	5.0	5.0	0.66597	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.4732	0.87652	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	YIPF7	44321557	1.000000	0.71417	1.000000	0.80357	0.748000	0.42578	7.576000	0.82467	2.597000	0.87782	0.655000	0.94253	.		PASS	0.453	YIPF7-201	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_182592	Intron	6	15	6	15	---	---	---	---
FIP1L1	81608	broad.mit.edu	37	4	54248489	54248489	+	Missense_Mutation	SNP	G	G	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr4:54248489G>T	ENST00000337488.6	+	4	409	c.215G>T	c.(214-216)gGt>gTt	p.G72V	FIP1L1_ENST00000510668.1_3'UTR|FIP1L1_ENST00000507922.1_Missense_Mutation_p.G57V|FIP1L1_ENST00000507166.1_Missense_Mutation_p.G72V|FIP1L1_ENST00000358575.5_Missense_Mutation_p.G57V|FIP1L1_ENST00000306932.6_Missense_Mutation_p.G57V	NM_030917.3	NP_112179.2	Q6UN15	FIP1_HUMAN	factor interacting with PAPOLA and CPSF1	72	Necessary for stimulating PAPOLA activity.|Sufficient for interaction with PAPOLA.				mRNA processing (GO:0006397)	mRNA cleavage and polyadenylation specificity factor complex (GO:0005847)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)	p.G72V(1)		large_intestine(3)|liver(1)|ovary(1)|skin(1)	6			GBM - Glioblastoma multiforme(3;3.31e-36)|LUSC - Lung squamous cell carcinoma(32;0.0134)			GCTGAAAATGGTGTACCAAAA	0.358			T	PDGFRA	idiopathic hypereosinophilic syndrome																																	uc003haa.2				Dom	yes		4	4q12	81608	Mis|O|T	FIP1 like 1 (S. cerevisiae)			L	FIP1L1		GIST|idiopathic hypereosinophilic syndrome		1	Substitution - Missense(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.(214-216)GGT>GTT		platelet-derived growth factor receptor alpha	Becaplermin(DB00102)|Imatinib(DB00619)|Sunitinib(DB01268)						160.0	145.0	150.0					4																	54248489		2203	4300	6503	SO:0001583	missense	5156	Gastrointestinal_Stromal_Tumors_Sporadic_Multiple_Primary|Familial_Intestinal_Neurofibromatosis			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.chr4:54248489G>T	AF161429	CCDS3491.1, CCDS47055.1, CCDS47056.1	4q12	2013-06-18	2013-06-18		ENSG00000145216	ENSG00000145216			19124	protein-coding gene	gene with protein product		607686	"""FIP1 like 1 (S. cerevisiae)"", ""FIP1L1 cleavage and polyadenylation specific factor subunit"""			11230166, 14749727	Standard	NM_030917		Approved	DKFZp586K0717, FIP1	uc003hae.3	Q6UN15	OTTHUMG00000128701	ENST00000337488.6:c.215G>T	4.37:g.54248489G>T	ENSP00000336752:p.Gly72Val	TSP Lung(21;0.16)				FIP1L1_uc003gzx.3_Missense_Mutation_p.G57V|FIP1L1_uc011bzt.1_Missense_Mutation_p.G72V|FIP1L1_uc003gzy.2_Missense_Mutation_p.G72V|FIP1L1_uc011bzu.1_Missense_Mutation_p.G57V|FIP1L1_uc003gzz.2_Missense_Mutation_p.G57V|FIP1L1_uc003hab.2_Missense_Mutation_p.G60V|FIP1L1_uc003hac.2_5'UTR	p.G72V	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)		4	401	+	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)		1053			Ser-rich.|Cytoplasmic (Potential).		B4DIR3|G3XAD6|Q0VGE0|Q499Y4|Q49AU3|Q7Z608|Q8WVN3|Q96F80|Q9H077	Missense_Mutation	SNP	ENST00000337488.6	37	c.215G>T	CCDS3491.1	.	.	.	.	.	.	.	.	.	.	G	18.78	3.696265	0.68386	.	.	ENSG00000145216	ENST00000337488;ENST00000358575;ENST00000507922;ENST00000306932;ENST00000507166	T	0.79454	-1.27	5.48	4.62	0.57501	.	0.000000	0.64402	D	0.000002	D	0.83142	0.5190	L	0.43152	1.355	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.996;0.998;1.0;0.997	T	0.82464	-0.0444	10	0.40728	T	0.16	-14.2563	14.2182	0.65807	0.0:0.0:0.8492:0.1508	.	57;57;72;57	G3XAD6;Q6UN15-3;Q6UN15;Q6UN15-4	.;.;FIP1_HUMAN;.	V	72;57;57;57;72	ENSP00000423325:G72V	ENSP00000302993:G57V	G	+	2	0	FIP1L1	53943246	1.000000	0.71417	0.949000	0.38748	0.985000	0.73830	6.221000	0.72243	1.262000	0.44165	0.655000	0.94253	GGT		PASS	0.358	FIP1L1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000250602.1	NM_030917		30	56	30	56	---	---	---	---
KDR	3791	broad.mit.edu	37	4	55974023	55974023	+	Silent	SNP	A	A	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr4:55974023A>T	ENST00000263923.4	-	10	1588	c.1293T>A	c.(1291-1293)ccT>ccA	p.P431P		NM_002253.2	NP_002244.1	P35968	VGFR2_HUMAN	kinase insert domain receptor (a type III receptor tyrosine kinase)	431	Ig-like C2-type 5.				angiogenesis (GO:0001525)|branching morphogenesis of an epithelial tube (GO:0048754)|calcium ion homeostasis (GO:0055074)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|cell fate commitment (GO:0045165)|cell maturation (GO:0048469)|cell migration involved in sprouting angiogenesis (GO:0002042)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|embryonic hemopoiesis (GO:0035162)|endothelial cell differentiation (GO:0045446)|endothelium development (GO:0003158)|extracellular matrix organization (GO:0030198)|lung alveolus development (GO:0048286)|lymph vessel development (GO:0001945)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|ovarian follicle development (GO:0001541)|peptidyl-tyrosine autophosphorylation (GO:0038083)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of 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 focal adhesion assembly (GO:0051894)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of positive chemotaxis (GO:0050927)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of vasculogenesis (GO:2001214)|protein autophosphorylation (GO:0046777)|regulation of cell shape (GO:0008360)|signal transduction by phosphorylation (GO:0023014)|surfactant homeostasis (GO:0043129)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)|vascular endothelial growth factor signaling pathway (GO:0038084)|vasculogenesis (GO:0001570)|viral process (GO:0016032)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)|endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sorting endosome (GO:0097443)	ATP binding (GO:0005524)|growth factor binding (GO:0019838)|Hsp90 protein binding (GO:0051879)|integrin binding (GO:0005178)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|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.P431P(1)		NS(1)|breast(3)|central_nervous_system(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(16)|lung(71)|ovary(2)|prostate(2)|skin(10)|soft_tissue(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	135	all_cancers(7;0.0255)|all_lung(4;0.00175)|Lung NSC(11;0.00384)|all_epithelial(27;0.034)|Glioma(25;0.08)|all_neural(26;0.101)		Epithelial(7;0.189)		Axitinib(DB06626)|Cabozantinib(DB08875)|Pazopanib(DB06589)|Ponatinib(DB08901)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	AGGAATCCACAGGAGAGATTA	0.473			Mis		"""NSCLC, angiosarcoma"""					TSP Lung(20;0.16)																												uc003has.2				Dom	yes		4	4q11-q12	3791	Mis	vascular endothelial growth factor receptor 2			E			NSCLC|angiosarcoma		1	Substitution - coding silent(1)		lung(1)	lung(16)|soft_tissue(4)|central_nervous_system(4)|large_intestine(2)|stomach(2)|skin(2)|ovary(2)|kidney(1)	33						c.(1291-1293)CCT>CCA		kinase insert domain receptor precursor	Sorafenib(DB00398)|Sunitinib(DB01268)						188.0	163.0	172.0					4																	55974023		2203	4300	6503	SO:0001819	synonymous_variant	3791	Familial_Infantile_Hemangioma			angiogenesis|cell differentiation|interspecies interaction between organisms|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of focal adhesion assembly|positive regulation of positive chemotaxis|regulation of cell shape	integral to plasma membrane	ATP binding|growth factor binding|Hsp90 protein binding|integrin binding|receptor signaling protein tyrosine kinase activity|vascular endothelial growth factor receptor activity	g.chr4:55974023A>T	AF035121	CCDS3497.1	4q11-q12	2013-01-29			ENSG00000128052	ENSG00000128052	2.7.10.1	"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6307	protein-coding gene	gene with protein product		191306				1417831	Standard	NM_002253		Approved	FLK1, VEGFR, VEGFR2, CD309	uc003has.3	P35968	OTTHUMG00000128734	ENST00000263923.4:c.1293T>A	4.37:g.55974023A>T		TSP Lung(20;0.16)				KDR_uc003hat.1_Silent_p.P431P|KDR_uc011bzx.1_Silent_p.P431P	p.P431P	NM_002253	NP_002244	P35968	VGFR2_HUMAN	Epithelial(7;0.189)		10	1595	-	all_cancers(7;0.0255)|all_lung(4;0.00175)|Lung NSC(11;0.00384)|all_epithelial(27;0.034)|Glioma(25;0.08)|all_neural(26;0.101)		431			Ig-like C2-type 5.|Extracellular (Potential).		A2RRS0|B5A925|C5IFA0|O60723|Q14178	Silent	SNP	ENST00000263923.4	37	c.1293T>A	CCDS3497.1																																																																																				PASS	0.473	KDR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250645.1			7	125	7	125	---	---	---	---
LPHN3	23284	broad.mit.edu	37	4	62845285	62845285	+	Missense_Mutation	SNP	G	G	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr4:62845285G>T	ENST00000514591.1	+	17	2935	c.2606G>T	c.(2605-2607)aGt>aTt	p.S869I	LPHN3_ENST00000545650.1_Missense_Mutation_p.S869I|LPHN3_ENST00000504896.1_Missense_Mutation_p.S869I|LPHN3_ENST00000514157.1_Missense_Mutation_p.S869I|LPHN3_ENST00000512091.2_Missense_Mutation_p.S869I|LPHN3_ENST00000507625.1_Missense_Mutation_p.S937I|LPHN3_ENST00000514996.1_Missense_Mutation_p.S869I|LPHN3_ENST00000507164.1_Missense_Mutation_p.S937I|LPHN3_ENST00000511324.1_Missense_Mutation_p.S937I|LPHN3_ENST00000508693.1_Missense_Mutation_p.S937I|LPHN3_ENST00000506720.1_Missense_Mutation_p.S937I|LPHN3_ENST00000506700.1_Missense_Mutation_p.S869I|LPHN3_ENST00000508946.1_Missense_Mutation_p.S869I|LPHN3_ENST00000506746.1_Missense_Mutation_p.S937I|LPHN3_ENST00000509896.1_Missense_Mutation_p.S937I			Q9HAR2	LPHN3_HUMAN	latrophilin 3	856					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|G-protein coupled receptor activity (GO:0004930)	p.S869I(3)		breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(21)|lung(73)|ovary(1)|pancreas(1)|prostate(6)|upper_aerodigestive_tract(1)	125						TTCCAGCACAGTGATGCGGTC	0.408																																						uc010ihh.2																			3	Substitution - Missense(3)		lung(3)	lung(15)|ovary(1)|central_nervous_system(1)|pancreas(1)	18						c.(2605-2607)AGT>ATT		latrophilin 3 precursor							262.0	250.0	254.0					4																	62845285		1953	4157	6110	SO:0001583	missense	23284				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|sugar binding	g.chr4:62845285G>T	AB018311	CCDS54768.1	4q13.1	2014-08-08				ENSG00000150471		"""-"", ""GPCR / Class B : Orphans"""	20974	protein-coding gene	gene with protein product						10994649	Standard	NM_015236		Approved	KIAA0768, LEC3	uc010ihh.3	Q9HAR2		ENST00000514591.1:c.2606G>T	4.37:g.62845285G>T	ENSP00000422533:p.Ser869Ile					LPHN3_uc003hcq.3_Missense_Mutation_p.S869I|LPHN3_uc003hct.2_Missense_Mutation_p.S262I	p.S869I	NM_015236	NP_056051	Q9HAR2	LPHN3_HUMAN			15	2779	+			856			Extracellular (Potential).		E9PE04|O94867|Q9NWK5	Missense_Mutation	SNP	ENST00000514591.1	37	c.2606G>T	CCDS54768.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	12.26|12.26	1.883959|1.883959	0.33255|0.33255	.|.	.|.	ENSG00000150471|ENSG00000150471	ENST00000502815|ENST00000512091;ENST00000514591;ENST00000509896;ENST00000511324;ENST00000506700;ENST00000545650;ENST00000295349;ENST00000280009;ENST00000507164;ENST00000508693;ENST00000507625;ENST00000514157;ENST00000504896;ENST00000508946;ENST00000506720;ENST00000506746;ENST00000514996	.|T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	.|0.71817	.|-0.58;-0.58;-0.6;-0.58;-0.57;-0.58;-0.58;-0.59;-0.57;-0.57;-0.58;-0.58;-0.59;-0.57;-0.56	5.5|5.5	5.5|5.5	0.81552|0.81552	.|.	.|0.292182	.|0.38778	.|N	.|0.001574	T|T	0.48892|0.48892	0.1525|0.1525	N|N	0.03177|0.03177	-0.4|-0.4	0.36159|0.36159	D|D	0.847972|0.847972	.|P;P;B	.|0.34462	.|0.454;0.454;0.435	.|B;B;B	.|0.33042	.|0.107;0.107;0.157	T|T	0.61931|0.61931	-0.6961|-0.6961	5|10	.|0.44086	.|T	.|0.13	.|.	14.6038|14.6038	0.68463|0.68463	0.0:0.1458:0.8542:0.0|0.0:0.1458:0.8542:0.0	.|.	.|869;856;869	.|E9PE04;Q9HAR2;Q9HAR2-2	.|.;LPHN3_HUMAN;.	H|I	326|869;869;937;937;869;869;856;869;937;937;937;869;869;869;937;937;869	.|ENSP00000423388:S869I;ENSP00000422533:S869I;ENSP00000423787:S937I;ENSP00000425033:S937I;ENSP00000424120:S869I;ENSP00000439831:S869I;ENSP00000421476:S937I;ENSP00000424030:S937I;ENSP00000421372:S937I;ENSP00000425201:S869I;ENSP00000423434:S869I;ENSP00000421627:S869I;ENSP00000420931:S937I;ENSP00000425884:S937I;ENSP00000424258:S869I	.|ENSP00000280009:S869I	Q|S	+|+	3|2	2|0	LPHN3|LPHN3	62527880|62527880	0.996000|0.996000	0.38824|0.38824	1.000000|1.000000	0.80357|0.80357	0.880000|0.880000	0.50808|0.50808	2.658000|2.658000	0.46733|0.46733	2.580000|2.580000	0.87095|0.87095	0.467000|0.467000	0.42956|0.42956	CAG|AGT		PASS	0.408	LPHN3-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000361765.1			16	245	16	245	---	---	---	---
EPHA5	2044	broad.mit.edu	37	4	66213856	66213856	+	Silent	SNP	G	G	T	rs201353014		TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr4:66213856G>T	ENST00000273854.3	-	15	3174	c.2574C>A	c.(2572-2574)gcC>gcA	p.A858A	EPHA5_ENST00000354839.4_Silent_p.A836A|EPHA5_ENST00000511294.1_Silent_p.A859A|EPHA5_ENST00000432638.2_Silent_p.A695A	NM_001281765.1|NM_004439.5	NP_001268694.1|NP_004430.4	P54756	EPHA5_HUMAN	EPH receptor A5	858	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				axon guidance (GO:0007411)|cAMP-mediated signaling (GO:0019933)|ephrin receptor signaling pathway (GO:0048013)|hippocampus development (GO:0021766)|negative regulation of synapse assembly (GO:0051964)|neuron development (GO:0048666)|positive regulation of CREB transcription factor activity (GO:0032793)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178)|regulation of Rac GTPase activity (GO:0032314)	dendrite (GO:0030425)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|rough endoplasmic reticulum (GO:0005791)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)|GPI-linked ephrin receptor activity (GO:0005004)|transmembrane-ephrin receptor activity (GO:0005005)	p.A858A(1)		autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(25)|liver(1)|lung(76)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	142						AGACATCACTGGCAGAAGTAA	0.398										TSP Lung(17;0.13)																												uc003hcy.2																			1	Substitution - coding silent(1)		lung(1)	lung(19)|stomach(2)|ovary(2)|central_nervous_system(1)	24						c.(2572-2574)GCC>GCA		ephrin receptor EphA5 isoform a precursor							150.0	144.0	146.0					4																	66213856		2203	4300	6503	SO:0001819	synonymous_variant	2044				cAMP-mediated signaling|neuron development	dendrite|external side of plasma membrane|integral to plasma membrane|neuronal cell body|perinuclear region of cytoplasm|rough endoplasmic reticulum	ATP binding|transmembrane-ephrin receptor activity	g.chr4:66213856G>T	L36644	CCDS3513.1, CCDS3514.1, CCDS75131.1, CCDS75132.1, CCDS75133.1	4q13.1	2013-02-11	2004-10-28		ENSG00000145242	ENSG00000145242		"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3389	protein-coding gene	gene with protein product		600004	"""EphA5"""			9267020, 7528718	Standard	NM_004439		Approved	Hek7, TYRO4, CEK7, EHK1	uc003hcy.3	P54756	OTTHUMG00000129273	ENST00000273854.3:c.2574C>A	4.37:g.66213856G>T		TSP Lung(17;0.13)				EPHA5_uc003hcx.2_Silent_p.A790A|EPHA5_uc003hcz.2_Silent_p.A836A|EPHA5_uc011cah.1_Silent_p.A859A|EPHA5_uc011cai.1_Silent_p.A837A|EPHA5_uc003hda.2_Silent_p.A859A	p.A858A	NM_004439	NP_004430	P54756	EPHA5_HUMAN			15	2767	-			858			Cytoplasmic (Potential).|Protein kinase.		Q7Z3F2	Silent	SNP	ENST00000273854.3	37	c.2574C>A	CCDS3513.1																																																																																				PASS	0.398	EPHA5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251388.2	NM_004439		38	77	38	77	---	---	---	---
EPHA5	2044	broad.mit.edu	37	4	66270123	66270124	+	Missense_Mutation	DNP	CC	CC	AA			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr4:66270123_66270124CC>AA	ENST00000273854.3	-	8	2358_2359	c.1758_1759GG>TT	c.(1756-1761)ttGGca>ttTTca	p.586_587LA>FS	EPHA5_ENST00000354839.4_Missense_Mutation_p.586_587LA>FS|EPHA5_ENST00000511294.1_Missense_Mutation_p.587_588LA>FS|EPHA5_ENST00000432638.2_Missense_Mutation_p.423_424LA>FS	NM_001281765.1|NM_004439.5	NP_001268694.1|NP_004430.4	P54756	EPHA5_HUMAN	EPH receptor A5	586					axon guidance (GO:0007411)|cAMP-mediated signaling (GO:0019933)|ephrin receptor signaling pathway (GO:0048013)|hippocampus development (GO:0021766)|negative regulation of synapse assembly (GO:0051964)|neuron development (GO:0048666)|positive regulation of CREB transcription factor activity (GO:0032793)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178)|regulation of Rac GTPase activity (GO:0032314)	dendrite (GO:0030425)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|rough endoplasmic reticulum (GO:0005791)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)|GPI-linked ephrin receptor activity (GO:0005004)|transmembrane-ephrin receptor activity (GO:0005005)	p.L586_A587>FS(1)|p.L586F(1)|p.A587S(1)		autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(25)|liver(1)|lung(76)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	142						ATAACCACTGCCAACAAAATGA	0.48										TSP Lung(17;0.13)																												uc003hcy.2																			3	Substitution - Missense(2)|Complex - compound substitution(1)		lung(3)	lung(19)|stomach(2)|ovary(2)|central_nervous_system(1)	24						c.(1759-1761)GCA>TCA|c.(1756-1758)TTG>TTT		ephrin receptor EphA5 isoform a precursor																																				SO:0001583	missense	2044				cAMP-mediated signaling|neuron development	dendrite|external side of plasma membrane|integral to plasma membrane|neuronal cell body|perinuclear region of cytoplasm|rough endoplasmic reticulum	ATP binding|transmembrane-ephrin receptor activity	g.chr4:66270123C>A|g.chr4:66270124C>A	L36644	CCDS3513.1, CCDS3514.1, CCDS75131.1, CCDS75132.1, CCDS75133.1	4q13.1	2013-02-11	2004-10-28		ENSG00000145242	ENSG00000145242		"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3389	protein-coding gene	gene with protein product		600004	"""EphA5"""			9267020, 7528718	Standard	NM_004439		Approved	Hek7, TYRO4, CEK7, EHK1	uc003hcy.3	P54756	OTTHUMG00000129273	ENST00000273854.3:c.1758_1759delinsAA	4.37:g.66270123_66270124delinsAA	ENSP00000273854:p.L586_A587delinsFS	TSP Lung(17;0.13)				EPHA5_uc003hcx.2_Missense_Mutation_p.A519S|EPHA5_uc003hcz.2_Missense_Mutation_p.A587S|EPHA5_uc011cah.1_Missense_Mutation_p.A588S|EPHA5_uc011cai.1_Missense_Mutation_p.A588S|EPHA5_uc003hda.2_Missense_Mutation_p.A588S|EPHA5_uc003hcx.2_Missense_Mutation_p.L518F|EPHA5_uc003hcz.2_Missense_Mutation_p.L586F|EPHA5_uc011cah.1_Missense_Mutation_p.L587F|EPHA5_uc011cai.1_Missense_Mutation_p.L587F|EPHA5_uc003hda.2_Missense_Mutation_p.L587F	p.A587S|p.L586F	NM_004439	NP_004430	P54756	EPHA5_HUMAN			8	1952|1951	-			587|586			Helical; (Potential).		Q7Z3F2	Missense_Mutation	SNP	ENST00000273854.3	37	c.1759G>T|c.1758G>T	CCDS3513.1																																																																																				PASS	0.480	EPHA5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251388.2	NM_004439		10	42|41	10	41	---	---	---	---
UGT2B11	10720	broad.mit.edu	37	4	70079792	70079792	+	Missense_Mutation	SNP	C	C	G			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr4:70079792C>G	ENST00000446444.1	-	1	657	c.649G>C	c.(649-651)Gtg>Ctg	p.V217L	RP11-704M14.1_ENST00000504301.1_RNA|RP11-704M14.1_ENST00000505646.1_RNA	NM_001073.1	NP_001064.1	O75310	UDB11_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B11	217					estrogen metabolic process (GO:0008210)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	glucuronosyltransferase activity (GO:0015020)	p.V217L(1)		endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	42						AAATAAAGCACATAGATCATA	0.343																																						uc003heh.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|haematopoietic_and_lymphoid_tissue(1)|skin(1)	3						c.(649-651)GTG>CTG		UDP glucuronosyltransferase 2 family,							63.0	62.0	62.0					4																	70079792		2200	4298	6498	SO:0001583	missense	10720				estrogen metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity	g.chr4:70079792C>G	AF016492	CCDS3527.1	4q13.3	2008-02-05	2005-07-20		ENSG00000213759	ENSG00000213759		"""UDP glucuronosyltransferases"""	12545	protein-coding gene	gene with protein product		603064	"""UDP glycosyltransferase 2 family, polypeptide B11"""			9675083	Standard	NM_001073		Approved		uc003heh.3	O75310	OTTHUMG00000129395	ENST00000446444.1:c.649G>C	4.37:g.70079792C>G	ENSP00000387683:p.Val217Leu					uc003hei.1_Intron	p.V217L	NM_001073	NP_001064	O75310	UDB11_HUMAN			1	658	-			217					Q3KNV9	Missense_Mutation	SNP	ENST00000446444.1	37	c.649G>C	CCDS3527.1	.	.	.	.	.	.	.	.	.	.	-	0.030	-1.339648	0.01277	.	.	ENSG00000213759	ENST00000446444	T	0.61392	0.11	1.96	-3.12	0.05282	.	0.627229	0.13621	U	0.374406	T	0.43255	0.1239	L	0.50333	1.59	0.09310	N	1	B	0.09022	0.002	B	0.10450	0.005	T	0.32322	-0.9911	10	0.17832	T	0.49	.	8.373	0.32425	0.0:0.5952:0.0:0.4048	.	217	O75310	UDB11_HUMAN	L	217	ENSP00000387683:V217L	ENSP00000387683:V217L	V	-	1	0	UGT2B11	70114381	0.000000	0.05858	0.012000	0.15200	0.288000	0.27193	-1.750000	0.01822	-1.008000	0.03404	-1.109000	0.02080	GTG		PASS	0.343	UGT2B11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251551.2	NM_001073		13	57	13	57	---	---	---	---
NPFFR2	10886	broad.mit.edu	37	4	72897664	72897664	+	Missense_Mutation	SNP	G	G	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr4:72897664G>A	ENST00000308744.6	+	1	144	c.46G>A	c.(46-48)Gaa>Aaa	p.E16K	NPFFR2_ENST00000344413.5_Missense_Mutation_p.E16K	NM_004885.2	NP_004876.2	Q9Y5X5	NPFF2_HUMAN	neuropeptide FF receptor 2	16					detection of abiotic stimulus (GO:0009582)|G-protein coupled receptor signaling pathway (GO:0007186)|regulation of adenylate cyclase activity (GO:0045761)|regulation of cAMP-dependent protein kinase activity (GO:2000479)|regulation of MAPK cascade (GO:0043408)	actin cytoskeleton (GO:0015629)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|neuropeptide receptor activity (GO:0008188)	p.E16K(1)		NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(24)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	43			Lung(101;0.0935)|LUSC - Lung squamous cell carcinoma(112;0.138)			GTGCCTCCTGGAAAGTGACGT	0.632																																						uc003hgg.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|central_nervous_system(1)	3						c.(46-48)GAA>AAA		neuropeptide FF receptor 2 isoform 1							35.0	40.0	38.0					4																	72897664		2199	4297	6496	SO:0001583	missense	10886				detection of abiotic stimulus	actin cytoskeleton|integral to plasma membrane	neuropeptide receptor activity	g.chr4:72897664G>A	AF236083	CCDS3551.1, CCDS3552.1, CCDS47072.1	4q21	2012-08-10	2006-02-15	2006-02-15	ENSG00000056291	ENSG00000056291		"""GPCR / Class A :  Neuropeptide receptors : FF/AF"", ""GPCR / Class A : RF amide peptide receptors"""	4525	protein-coding gene	gene with protein product	"""neuropeptide FF 2"""	607449	"""G protein-coupled receptor 74"""	GPR74		10079187, 10851242	Standard	NM_001144756		Approved	NPFF2, NPGPR	uc003hgg.2	Q9Y5X5	OTTHUMG00000129918	ENST00000308744.6:c.46G>A	4.37:g.72897664G>A	ENSP00000307822:p.Glu16Lys					NPFFR2_uc010iig.1_5'UTR	p.E16K	NM_004885	NP_004876	Q9Y5X5	NPFF2_HUMAN	Lung(101;0.0935)|LUSC - Lung squamous cell carcinoma(112;0.138)		1	144	+			16			Extracellular (Potential).		Q96RV1|Q9NR49	Missense_Mutation	SNP	ENST00000308744.6	37	c.46G>A	CCDS3551.1	.	.	.	.	.	.	.	.	.	.	G	7.387	0.629987	0.14257	.	.	ENSG00000056291	ENST00000308744;ENST00000344413	T	0.75050	-0.9	3.54	1.77	0.24775	.	3.104160	0.01704	N	0.027320	T	0.52805	0.1757	N	0.08118	0	0.09310	N	1	B	0.30068	0.267	B	0.25291	0.059	T	0.48031	-0.9070	10	0.19147	T	0.46	.	4.9644	0.14083	0.1203:0.217:0.6627:0.0	.	16	Q9Y5X5	NPFF2_HUMAN	K	16	ENSP00000307822:E16K	ENSP00000307822:E16K	E	+	1	0	NPFFR2	73116528	0.000000	0.05858	0.001000	0.08648	0.006000	0.05464	-0.123000	0.10611	0.487000	0.27698	0.484000	0.47621	GAA		PASS	0.632	NPFFR2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000252170.2	NM_004885		16	32	16	32	---	---	---	---
ANKRD17	26057	broad.mit.edu	37	4	74010501	74010501	+	Missense_Mutation	SNP	C	C	G			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr4:74010501C>G	ENST00000358602.4	-	11	2034	c.1918G>C	c.(1918-1920)Gct>Cct	p.A640P	ANKRD17_ENST00000514252.1_5'UTR|ANKRD17_ENST00000330838.6_Missense_Mutation_p.A640P|ANKRD17_ENST00000509867.2_Missense_Mutation_p.A527P	NM_032217.3	NP_115593.3	O75179	ANR17_HUMAN	ankyrin repeat domain 17	640					blood vessel maturation (GO:0001955)|negative regulation of smooth muscle cell differentiation (GO:0051151)|viral process (GO:0016032)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)	p.A640P(1)		NS(3)|breast(2)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(39)|ovary(6)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)	96	Breast(15;0.000295)		Epithelial(6;8.86e-07)|OV - Ovarian serous cystadenocarcinoma(6;6.22e-06)|all cancers(17;1.51e-05)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			ACATGACCAGCTCTTGCAGCT	0.333																																						uc003hgp.2																			1	Substitution - Missense(1)		lung(1)	ovary(5)|skin(3)|upper_aerodigestive_tract(1)|lung(1)	10						c.(1918-1920)GCT>CCT		ankyrin repeat domain protein 17 isoform a							83.0	83.0	83.0					4																	74010501		2203	4300	6503	SO:0001583	missense	26057				interspecies interaction between organisms	cytoplasm|nucleus	RNA binding	g.chr4:74010501C>G	AB014597	CCDS34003.1, CCDS34004.1, CCDS68721.1	4q21.1-q21.21	2013-01-10			ENSG00000132466	ENSG00000132466		"""Ankyrin repeat domain containing"""	23575	protein-coding gene	gene with protein product		615929				11165478	Standard	NM_032217		Approved	GTAR, KIAA0697, FLJ22206, NY-BR-16	uc003hgp.3	O75179	OTTHUMG00000160826	ENST00000358602.4:c.1918G>C	4.37:g.74010501C>G	ENSP00000351416:p.Ala640Pro					ANKRD17_uc003hgo.2_Missense_Mutation_p.A527P|ANKRD17_uc003hgq.2_Missense_Mutation_p.A640P|ANKRD17_uc003hgr.2_Missense_Mutation_p.A640P|ANKRD17_uc011cbd.1_Missense_Mutation_p.A205P	p.A640P	NM_032217	NP_115593	O75179	ANR17_HUMAN	Epithelial(6;8.86e-07)|OV - Ovarian serous cystadenocarcinoma(6;6.22e-06)|all cancers(17;1.51e-05)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)		11	2035	-	Breast(15;0.000295)		640			ANK 13.		E7EUV3|G5E964|Q6PJ85|Q6PK85|Q6PKA2|Q86XI3|Q8NDR5|Q96I86|Q9H288|Q9H6J9	Missense_Mutation	SNP	ENST00000358602.4	37	c.1918G>C	CCDS34004.1	.	.	.	.	.	.	.	.	.	.	C	32	5.151159	0.94645	.	.	ENSG00000132466	ENST00000358602;ENST00000426990;ENST00000330838;ENST00000509867;ENST00000411811	T;T;T	0.66995	-0.24;-0.24;-0.24	5.66	5.66	0.87406	Ankyrin repeat-containing domain (4);	0.000000	0.64402	D	0.000004	D	0.84092	0.5396	M	0.84082	2.675	0.49798	D	0.999823	D;D;D;D;D	0.89917	1.0;0.999;0.999;1.0;1.0	D;D;D;D;D	0.91635	0.999;0.994;0.992;0.999;0.989	D	0.84001	0.0343	10	0.51188	T	0.08	.	20.1253	0.97977	0.0:1.0:0.0:0.0	.	161;640;640;640;527	B4DR08;O75179-2;G5E964;O75179;E7EUV3	.;.;.;ANR17_HUMAN;.	P	640;640;640;527;640	ENSP00000351416:A640P;ENSP00000332265:A640P;ENSP00000427151:A527P	ENSP00000332265:A640P	A	-	1	0	ANKRD17	74229365	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.445000	0.80570	2.832000	0.97577	0.655000	0.94253	GCT		PASS	0.333	ANKRD17-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000362475.1	NM_032217		7	48	7	48	---	---	---	---
AFP	174	broad.mit.edu	37	4	74310718	74310718	+	Missense_Mutation	SNP	C	C	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr4:74310718C>A	ENST00000395792.2	+	7	822	c.722C>A	c.(721-723)aCt>aAt	p.T241N	AFP_ENST00000226359.2_Missense_Mutation_p.T241N	NM_001134.1	NP_001125.1	P02771	FETA_HUMAN	alpha-fetoprotein	241	Albumin 2. {ECO:0000255|PROSITE- ProRule:PRU00769}.				ovulation from ovarian follicle (GO:0001542)|progesterone metabolic process (GO:0042448)|SMAD protein signal transduction (GO:0060395)|transport (GO:0006810)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)	metal ion binding (GO:0046872)	p.T241N(1)		breast(1)|endometrium(2)|large_intestine(3)|lung(13)|ovary(1)|skin(1)|urinary_tract(1)	22	Breast(15;0.00102)		Epithelial(6;2.42e-05)|all cancers(17;0.000268)|OV - Ovarian serous cystadenocarcinoma(6;0.000324)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			AGAACTGTTACTAAACTGAGT	0.323									Alpha-Fetoprotein, Hereditary Persistence of																													uc003hgz.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(721-723)ACT>AAT		alpha-fetoprotein precursor							51.0	52.0	51.0					4																	74310718		2203	4300	6503	SO:0001583	missense	174	Alpha-Fetoprotein_Hereditary_Persistence_of	Familial Cancer Database	HPAFP	transport		metal ion binding	g.chr4:74310718C>A	V01514	CCDS3556.1	4q13.3	2012-05-16			ENSG00000081051	ENSG00000081051			317	protein-coding gene	gene with protein product		104150		HPAFP			Standard	NM_001134		Approved	FETA	uc003hgz.1	P02771	OTTHUMG00000130011	ENST00000395792.2:c.722C>A	4.37:g.74310718C>A	ENSP00000379138:p.Thr241Asn					AFP_uc003hha.1_Missense_Mutation_p.T241N|AFP_uc011cbg.1_Missense_Mutation_p.T15N	p.T241N	NM_001134	NP_001125	P02771	FETA_HUMAN	Epithelial(6;2.42e-05)|all cancers(17;0.000268)|OV - Ovarian serous cystadenocarcinoma(6;0.000324)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)		7	769	+	Breast(15;0.00102)		241			Albumin 2.		B2RBU3	Missense_Mutation	SNP	ENST00000395792.2	37	c.722C>A	CCDS3556.1	.	.	.	.	.	.	.	.	.	.	C	20.2	3.955441	0.73902	.	.	ENSG00000081051	ENST00000395792;ENST00000226359	T;T	0.73469	-0.75;-0.75	5.44	2.75	0.32379	Serum albumin-like (1);Serum albumin, N-terminal (3);	0.813532	0.11314	N	0.576805	T	0.77405	0.4125	L	0.54323	1.7	0.09310	N	1	P;P	0.50819	0.931;0.939	P;P	0.54965	0.765;0.761	T	0.64262	-0.6449	10	0.72032	D	0.01	.	7.1938	0.25841	0.0:0.7215:0.0:0.2785	.	83;241	B4DMX4;P02771	.;FETA_HUMAN	N	241	ENSP00000379138:T241N;ENSP00000226359:T241N	ENSP00000226359:T241N	T	+	2	0	AFP	74529582	0.000000	0.05858	0.000000	0.03702	0.890000	0.51754	0.584000	0.23864	0.397000	0.25310	0.655000	0.94253	ACT		PASS	0.323	AFP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252284.3			5	49	5	49	---	---	---	---
RASSF6	166824	broad.mit.edu	37	4	74447946	74447946	+	Missense_Mutation	SNP	C	C	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr4:74447946C>T	ENST00000342081.3	-	7	855	c.725G>A	c.(724-726)aGa>aAa	p.R242K	RASSF6_ENST00000335049.5_Missense_Mutation_p.R198K|RASSF6_ENST00000307439.5_Missense_Mutation_p.R210K|RASSF6_ENST00000395777.2_Intron	NM_201431.2	NP_958834.1	Q6ZTQ3	RASF6_HUMAN	Ras association (RalGDS/AF-6) domain family member 6	242	Ras-associating. {ECO:0000255|PROSITE- ProRule:PRU00166}.				apoptotic process (GO:0006915)|positive regulation of apoptotic process (GO:0043065)|signal transduction (GO:0007165)			p.R242K(1)|p.R210K(1)		breast(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(4)|pancreas(2)|skin(2)	17	Breast(15;0.00102)		all cancers(17;0.00104)|Lung(101;0.128)|LUSC - Lung squamous cell carcinoma(112;0.187)			TTCTTCAGTTCTCATGTTACT	0.269																																						uc003hhd.1																			2	Substitution - Missense(2)		lung(2)	pancreas(2)	2						c.(724-726)AGA>AAA		Ras association (RalGDS/AF-6) domain family 6							61.0	57.0	59.0					4																	74447946		2197	4290	6487	SO:0001583	missense	166824				apoptosis|signal transduction		protein binding	g.chr4:74447946C>T	AY217664	CCDS3558.1, CCDS3559.1, CCDS58904.1, CCDS58905.1	4q21.1	2008-02-22	2008-02-22		ENSG00000169435	ENSG00000169435			20796	protein-coding gene	gene with protein product		612620					Standard	NM_177532		Approved		uc003hhd.2	Q6ZTQ3	OTTHUMG00000130007	ENST00000342081.3:c.725G>A	4.37:g.74447946C>T	ENSP00000340578:p.Arg242Lys					RASSF6_uc003hhc.1_Missense_Mutation_p.R210K|RASSF6_uc010iik.1_Intron|RASSF6_uc010iil.1_Missense_Mutation_p.R198K	p.R242K	NM_201431	NP_958834	Q6ZTQ3	RASF6_HUMAN	all cancers(17;0.00104)|Lung(101;0.128)|LUSC - Lung squamous cell carcinoma(112;0.187)		7	848	-	Breast(15;0.00102)		242			Ras-associating.		Q68DT2|Q6PDA6|Q86WG9|Q86WH0	Missense_Mutation	SNP	ENST00000342081.3	37	c.725G>A	CCDS3558.1	.	.	.	.	.	.	.	.	.	.	C	8.351	0.830892	0.16820	.	.	ENSG00000169435	ENST00000307439;ENST00000342081;ENST00000335049	T;T;T	0.16457	2.34;2.34;2.34	5.42	0.422	0.16457	Ras-association (3);	0.490193	0.24426	N	0.038627	T	0.12689	0.0308	L	0.34521	1.04	0.23602	N	0.997314	B;B	0.17667	0.023;0.016	B;B	0.25614	0.016;0.062	T	0.21895	-1.0232	10	0.51188	T	0.08	-3.2382	8.9958	0.36052	0.0:0.4765:0.0:0.5235	.	198;242	Q6ZTQ3-3;Q6ZTQ3	.;RASF6_HUMAN	K	210;242;198	ENSP00000303877:R210K;ENSP00000340578:R242K;ENSP00000335582:R198K	ENSP00000303877:R210K	R	-	2	0	RASSF6	74666810	0.042000	0.20092	0.592000	0.28758	0.976000	0.68499	-0.197000	0.09518	-0.269000	0.09298	-0.123000	0.14984	AGA		PASS	0.269	RASSF6-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000252279.1	NM_177532		3	38	3	38	---	---	---	---
PPEF2	5470	broad.mit.edu	37	4	76794303	76794303	+	Missense_Mutation	SNP	A	A	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr4:76794303A>T	ENST00000286719.7	-	12	1839	c.1483T>A	c.(1483-1485)Tat>Aat	p.Y495N		NM_006239.2	NP_006230.2	O14830	PPE2_HUMAN	protein phosphatase, EF-hand calcium binding domain 2	495	Catalytic.				detection of stimulus involved in sensory perception (GO:0050906)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of peptidyl-threonine phosphorylation (GO:0010801)|protein dephosphorylation (GO:0006470)|regulation of JUN kinase activity (GO:0043506)|regulation of MAP kinase activity (GO:0043405)|visual perception (GO:0007601)	cilium (GO:0005929)|cytoplasm (GO:0005737)	calcium ion binding (GO:0005509)|Hsp70 protein binding (GO:0030544)|Hsp90 protein binding (GO:0051879)|iron ion binding (GO:0005506)|manganese ion binding (GO:0030145)|mitogen-activated protein kinase kinase kinase binding (GO:0031435)|protein serine/threonine phosphatase activity (GO:0004722)	p.Y495N(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(25)|ovary(2)|pancreas(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	50			Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)			CAGAATTCATAGCCTTCAGGT	0.488																																					NSCLC(105;1359 1603 15961 44567 47947)	uc003hix.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|lung(1)|central_nervous_system(1)	4						c.(1483-1485)TAT>AAT		serine/threonine protein phosphatase with							169.0	150.0	157.0					4																	76794303		2203	4300	6503	SO:0001583	missense	5470				detection of stimulus involved in sensory perception|negative regulation of MAPKKK cascade|negative regulation of peptidyl-threonine phosphorylation|protein dephosphorylation|visual perception	cytoplasm|photoreceptor inner segment|photoreceptor outer segment	calcium ion binding|Hsp70 protein binding|Hsp90 protein binding|iron ion binding|manganese ion binding|mitogen-activated protein kinase kinase kinase binding|protein serine/threonine phosphatase activity	g.chr4:76794303A>T	AF023456	CCDS34013.1	4q21.1	2013-01-10			ENSG00000156194	ENSG00000156194		"""Serine/threonine phosphatases / Protein phosphatase, catalytic subunits"", ""EF-hand domain containing"""	9244	protein-coding gene	gene with protein product	"""protein phosphatase 7, catalytic subunit, beta isozyme"""	602256				9326663, 12051765	Standard	NM_006239		Approved	PPP7CB	uc003hix.3	O14830	OTTHUMG00000160915	ENST00000286719.7:c.1483T>A	4.37:g.76794303A>T	ENSP00000286719:p.Tyr495Asn					PPEF2_uc003hiy.2_RNA|PPEF2_uc003hiz.1_Missense_Mutation_p.Y495N	p.Y495N	NM_006239	NP_006230	O14830	PPE2_HUMAN	Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)		12	1840	-			495			Catalytic.		O14831	Missense_Mutation	SNP	ENST00000286719.7	37	c.1483T>A	CCDS34013.1	.	.	.	.	.	.	.	.	.	.	A	15.98	2.992985	0.54041	.	.	ENSG00000156194	ENST00000286719;ENST00000337500	T	0.08807	3.05	5.37	5.37	0.77165	Serine/threonine-specific protein phosphatase/bis(5-nucleosyl)-tetraphosphatase (2);	0.000000	0.85682	D	0.000000	T	0.37517	0.1006	M	0.93062	3.375	0.52501	D	0.99995	D;D	0.89917	0.994;1.0	D;D	0.87578	0.968;0.998	T	0.48175	-0.9058	10	0.87932	D	0	-0.0158	13.3235	0.60447	1.0:0.0:0.0:0.0	.	495;495	O14830-2;O14830	.;PPE2_HUMAN	N	495	ENSP00000286719:Y495N	ENSP00000286719:Y495N	Y	-	1	0	PPEF2	77013327	1.000000	0.71417	0.994000	0.49952	0.034000	0.12701	8.645000	0.91049	2.037000	0.60232	0.460000	0.39030	TAT		PASS	0.488	PPEF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362929.1	NM_006239		24	47	24	47	---	---	---	---
FRAS1	80144	broad.mit.edu	37	4	79393426	79393426	+	Missense_Mutation	SNP	G	G	T	rs372346225		TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr4:79393426G>T	ENST00000264895.6	+	52	7904	c.7464G>T	c.(7462-7464)aaG>aaT	p.K2488N		NM_025074.6	NP_079350.5	Q86XX4	FRAS1_HUMAN	Fraser extracellular matrix complex subunit 1	2488					cell communication (GO:0007154)|embryonic limb morphogenesis (GO:0030326)|metanephros morphogenesis (GO:0003338)|morphogenesis of an epithelium (GO:0002009)|palate development (GO:0060021)|protein transport (GO:0015031)|skin development (GO:0043588)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|sublamina densa (GO:0061618)	metal ion binding (GO:0046872)	p.K2488N(1)|p.K2489N(1)		breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						CGGGCCCTAAGCATGGCTTTG	0.537																																						uc003hlb.2																			2	Substitution - Missense(2)		lung(2)	large_intestine(5)	5						c.(7462-7464)AAG>AAT		Fraser syndrome 1		G	ASN/LYS	0,4036		0,0,2018	50.0	53.0	52.0		7464	1.0	0.4	4		52	2,8350		0,2,4174	no	missense	FRAS1	NM_025074.6	94	0,2,6192	TT,TG,GG		0.0239,0.0,0.0161	possibly-damaging	2488/4013	79393426	2,12386	2018	4176	6194	SO:0001583	missense	80144				cell communication	integral to membrane|plasma membrane	metal ion binding	g.chr4:79393426G>T	AB040933	CCDS54772.1	4q21.21	2014-06-25	2014-06-25		ENSG00000138759	ENSG00000138759			19185	protein-coding gene	gene with protein product		607830	"""Fraser syndrome 1"""			12766769, 3118036	Standard	NM_025074		Approved	FLJ22031, FLJ14927, KIAA1500	uc003hlb.2	Q86XX4	OTTHUMG00000160856	ENST00000264895.6:c.7464G>T	4.37:g.79393426G>T	ENSP00000264895:p.Lys2488Asn						p.K2488N	NM_025074	NP_079350	Q86XX4	FRAS1_HUMAN			52	7904	+			2487			CSPG 12.|Extracellular (Potential).		A2RRR8|Q86UZ4|Q8N3U9|Q8NAU7|Q96JW7|Q9H6N9|Q9P228	Missense_Mutation	SNP	ENST00000264895.6	37	c.7464G>T	CCDS54771.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	8.223|8.223	0.802848|0.802848	0.16397|0.16397	0.0|0.0	2.39E-4|2.39E-4	ENSG00000138759|ENSG00000138759	ENST00000512123|ENST00000264895	.|T	.|0.38240	.|1.15	5.09|5.09	0.979|0.979	0.19745|0.19745	.|.	.|0.542686	.|0.19621	.|N	.|0.109911	T|T	0.24624|0.24624	0.0597|0.0597	L|L	0.39397|0.39397	1.21|1.21	0.48395|0.48395	D|D	0.999648|0.999648	.|P	.|0.51791	.|0.948	.|B	.|0.41988	.|0.372	T|T	0.03306|0.03306	-1.1050|-1.1050	5|10	.|0.46703	.|T	.|0.11	.|.	5.0039|5.0039	0.14279|0.14279	0.4281:0.1511:0.4208:0.0|0.4281:0.1511:0.4208:0.0	.|.	.|2488	.|E9PHH6	.|.	S|N	717|2488	.|ENSP00000264895:K2488N	.|ENSP00000264895:K2488N	A|K	+|+	1|3	0|2	FRAS1|FRAS1	79612450|79612450	0.927000|0.927000	0.31430|0.31430	0.421000|0.421000	0.26609|0.26609	0.004000|0.004000	0.04260|0.04260	0.348000|0.348000	0.20031|0.20031	0.263000|0.263000	0.21812|0.21812	-0.140000|-0.140000	0.14226|0.14226	GCA|AAG		PASS	0.537	FRAS1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				10	35	10	35	---	---	---	---
FGF5	2250	broad.mit.edu	37	4	81207575	81207575	+	Silent	SNP	C	C	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr4:81207575C>A	ENST00000312465.7	+	3	782	c.556C>A	c.(556-558)Cgg>Agg	p.R186R	FGF5_ENST00000503413.1_3'UTR|FGF5_ENST00000456523.3_3'UTR	NM_004464.3	NP_004455.2	P12034	FGF5_HUMAN	fibroblast growth factor 5	186					cell proliferation (GO:0008283)|cell-cell signaling (GO:0007267)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glial cell differentiation (GO:0010001)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|nervous system development (GO:0007399)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell division (GO:0051781)|positive regulation of cell proliferation (GO:0008284)|signal transduction involved in regulation of gene expression (GO:0023019)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	fibroblast growth factor receptor binding (GO:0005104)	p.R186R(1)		breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	22						AAAAACAGGGCGGGAGTGGTA	0.458																																						uc003hmd.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|breast(1)	2						c.(556-558)CGG>AGG		fibroblast growth factor 5 isoform 1 precursor							92.0	103.0	99.0					4																	81207575		2203	4300	6503	SO:0001819	synonymous_variant	2250				cell proliferation|cell-cell signaling|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|positive regulation of cell division|positive regulation of cell proliferation	extracellular space	fibroblast growth factor receptor binding|growth factor activity	g.chr4:81207575C>A	M23534	CCDS3586.1, CCDS34021.1	4q21	2014-01-30			ENSG00000138675	ENSG00000138675		"""Endogenous ligands"""	3683	protein-coding gene	gene with protein product		165190				3211147, 2577873	Standard	NM_001291812		Approved		uc003hmd.3	P12034	OTTHUMG00000130288	ENST00000312465.7:c.556C>A	4.37:g.81207575C>A						FGF5_uc003hme.2_3'UTR	p.R186R	NM_004464	NP_004455	P12034	FGF5_HUMAN			3	793	+			186					B2R554|O75846|Q3Y8M3|Q8NF90	Silent	SNP	ENST00000312465.7	37	c.556C>A	CCDS34021.1																																																																																				PASS	0.458	FGF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252627.2			47	118	47	118	---	---	---	---
BMP3	651	broad.mit.edu	37	4	81967120	81967120	+	Missense_Mutation	SNP	A	A	G			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr4:81967120A>G	ENST00000282701.2	+	2	865	c.545A>G	c.(544-546)cAt>cGt	p.H182R		NM_001201.2	NP_001192.2	P12645	BMP3_HUMAN	bone morphogenetic protein 3	182					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.H182R(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						CTCCTTGGCCATCTGTCAGTG	0.438																																						uc003hmg.3																			1	Substitution - Missense(1)		lung(1)	ovary(4)|central_nervous_system(1)	5						c.(544-546)CAT>CGT		bone morphogenetic protein 3 preproprotein							156.0	156.0	156.0					4																	81967120		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.chr4:81967120A>G	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.545A>G	4.37:g.81967120A>G	ENSP00000282701:p.His182Arg						p.H182R	NM_001201	NP_001192	P12645	BMP3_HUMAN			2	865	+			182					Q4VAS5	Missense_Mutation	SNP	ENST00000282701.2	37	c.545A>G	CCDS3588.1	.	.	.	.	.	.	.	.	.	.	A	0.920	-0.716320	0.03206	.	.	ENSG00000152785	ENST00000282701	T	0.63913	-0.07	4.84	2.42	0.29668	Transforming growth factor-beta, N-terminal (1);	0.290799	0.43416	N	0.000578	T	0.54062	0.1835	M	0.70275	2.135	0.53005	D	0.999961	B	0.16603	0.018	B	0.19391	0.025	T	0.41270	-0.9518	10	0.09084	T	0.74	.	8.8335	0.35098	0.8448:0.0:0.1552:0.0	.	182	P12645	BMP3_HUMAN	R	182	ENSP00000282701:H182R	ENSP00000282701:H182R	H	+	2	0	BMP3	82186144	0.993000	0.37304	0.978000	0.43139	0.026000	0.11368	2.302000	0.43637	0.451000	0.26802	0.533000	0.62120	CAT		PASS	0.438	BMP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252634.1			10	174	10	174	---	---	---	---
ENOPH1	58478	broad.mit.edu	37	4	83375922	83375922	+	Missense_Mutation	SNP	G	G	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr4:83375922G>T	ENST00000273920.3	+	4	705	c.437G>T	c.(436-438)gGa>gTa	p.G146V	ENOPH1_ENST00000509635.1_Missense_Mutation_p.G58V	NM_021204.3	NP_067027.1			enolase-phosphatase 1									p.G146V(1)		central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(3)|skin(1)	13						AGAGAGGCCGGAATGAAGGTG	0.463																																						uc003hmv.2																			1	Substitution - Missense(1)		lung(1)		0						c.(436-438)GGA>GTA		enolase-phosphatase 1							247.0	230.0	236.0					4																	83375922		2203	4300	6503	SO:0001583	missense	58478				L-methionine salvage from methylthioadenosine	cytoplasm|nucleus	2,3-diketo-5-methylthiopentyl-1-phosphate enolase activity|2-hydroxy-3-keto-5-methylthiopentenyl-1-phosphate phosphatase activity|acireductone synthase activity|magnesium ion binding|phosphoglycolate phosphatase activity	g.chr4:83375922G>T		CCDS3594.1, CCDS75154.1	4q21.3	2013-05-29			ENSG00000145293	ENSG00000145293	3.1.3.77		24599	protein-coding gene	gene with protein product	"""Enolase-phosphatase E1"", ""acireductone synthase"""					15843022	Standard	XM_005263168		Approved	MASA, E1, mtnC	uc003hmv.3	Q9UHY7	OTTHUMG00000130295	ENST00000273920.3:c.437G>T	4.37:g.83375922G>T	ENSP00000273920:p.Gly146Val					ENOPH1_uc003hmw.2_Missense_Mutation_p.G58V|ENOPH1_uc003hmx.2_5'UTR	p.G146V	NM_021204	NP_067027	Q9UHY7	ENOPH_HUMAN			4	694	+			146						Missense_Mutation	SNP	ENST00000273920.3	37	c.437G>T	CCDS3594.1	.	.	.	.	.	.	.	.	.	.	g	27.4	4.829506	0.90955	.	.	ENSG00000145293	ENST00000273920;ENST00000456931;ENST00000509635	T;T	0.10763	2.84;2.84	5.74	5.74	0.90152	Haloacid dehalogenase-like hydrolase (1);HAD-like domain (2);2,3-diketo-5-methylthio-1-phosphopentane phosphatase (1);	0.000000	0.85682	D	0.000000	T	0.48447	0.1500	H	0.95004	3.61	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.60791	-0.7193	10	0.87932	D	0	-23.461	20.3429	0.98773	0.0:0.0:1.0:0.0	.	146	Q9UHY7	ENOPH_HUMAN	V	146;146;58	ENSP00000273920:G146V;ENSP00000422005:G58V	ENSP00000273920:G146V	G	+	2	0	ENOPH1	83594946	1.000000	0.71417	0.990000	0.47175	0.739000	0.42172	9.553000	0.98118	2.881000	0.98747	0.650000	0.86243	GGA		PASS	0.463	ENOPH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252638.2	NM_021204		40	97	40	97	---	---	---	---
WDFY3	23001	broad.mit.edu	37	4	85722993	85722993	+	Missense_Mutation	SNP	C	C	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr4:85722993C>A	ENST00000295888.4	-	17	3039	c.2632G>T	c.(2632-2634)Gtg>Ttg	p.V878L	WDFY3_ENST00000512267.1_5'UTR|WDFY3_ENST00000322366.6_Missense_Mutation_p.V878L|WDFY3-AS1_ENST00000510449.1_RNA	NM_014991.4	NP_055806.2	Q8IZQ1	WDFY3_HUMAN	WD repeat and FYVE domain containing 3	878					aggrephagy (GO:0035973)|positive regulation of macroautophagy (GO:0016239)	autophagic vacuole (GO:0005776)|cytoplasm (GO:0005737)|extrinsic component of membrane (GO:0019898)|inclusion body (GO:0016234)|nuclear envelope (GO:0005635)|PML body (GO:0016605)	1-phosphatidylinositol binding (GO:0005545)|beta-N-acetylglucosaminylglycopeptide beta-1,4-galactosyltransferase activity (GO:0003831)|metal ion binding (GO:0046872)	p.V878L(1)		breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	134		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000808)		ATATTTGCCACGGCAAGTTGA	0.438																																						uc003hpd.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|central_nervous_system(1)	3						c.(2632-2634)GTG>TTG		WD repeat and FYVE domain containing 3 isoform							75.0	67.0	70.0					4																	85722993		2203	4300	6503	SO:0001583	missense	23001					cytoplasmic part|extrinsic to membrane|nuclear envelope	1-phosphatidylinositol binding|metal ion binding|protein binding	g.chr4:85722993C>A	AB023210	CCDS3609.1	4q21.3	2013-01-09			ENSG00000163625	ENSG00000163625		"""Zinc fingers, FYVE domain containing"", ""WD repeat domain containing"""	20751	protein-coding gene	gene with protein product						10231032	Standard	NM_014991		Approved	KIAA0993, ALFY, ZFYVE25	uc003hpd.3	Q8IZQ1	OTTHUMG00000130424	ENST00000295888.4:c.2632G>T	4.37:g.85722993C>A	ENSP00000295888:p.Val878Leu						p.V878L	NM_014991	NP_055806	Q8IZQ1	WDFY3_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000808)	17	3040	-		Hepatocellular(203;0.114)	878					Q4W5K5|Q6P0Q5|Q8N1T2|Q8NAV6|Q96BS7|Q96D33|Q96N85|Q9Y2J7	Missense_Mutation	SNP	ENST00000295888.4	37	c.2632G>T	CCDS3609.1	.	.	.	.	.	.	.	.	.	.	C	12.48	1.949917	0.34377	.	.	ENSG00000163625	ENST00000322366;ENST00000295888	T;T	0.48836	0.8;0.8	5.65	5.65	0.86999	Armadillo-like helical (1);	0.056975	0.64402	D	0.000001	T	0.35038	0.0918	L	0.28649	0.875	0.80722	D	1	B	0.02656	0.0	B	0.04013	0.001	T	0.10154	-1.0642	10	0.19590	T	0.45	.	13.3313	0.60488	0.0:0.9278:0.0:0.0722	.	878	Q8IZQ1	WDFY3_HUMAN	L	878	ENSP00000318466:V878L;ENSP00000295888:V878L	ENSP00000295888:V878L	V	-	1	0	WDFY3	85942017	1.000000	0.71417	0.971000	0.41717	0.740000	0.42216	4.620000	0.61226	2.827000	0.97445	0.650000	0.86243	GTG		PASS	0.438	WDFY3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252811.2	NM_014991		3	39	3	39	---	---	---	---
GRID2	2895	broad.mit.edu	37	4	94006212	94006212	+	Missense_Mutation	SNP	C	C	A	rs574540768		TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr4:94006212C>A	ENST00000282020.4	+	3	569	c.311C>A	c.(310-312)tCc>tAc	p.S104Y	GRID2_ENST00000510992.1_Intron|GRID2_ENST00000505687.1_3'UTR	NM_001510.2	NP_001501.2	O43424	GRID2_HUMAN	glutamate receptor, ionotropic, delta 2	104					cellular protein localization (GO:0034613)|cerebellar granule cell differentiation (GO:0021707)|glutamate receptor signaling pathway (GO:0007215)|heterophilic cell-cell adhesion (GO:0007157)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|prepulse inhibition (GO:0060134)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of neuron apoptotic process (GO:0043523)|regulation of neuron projection development (GO:0010975)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	cell junction (GO:0030054)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|integral component of plasma membrane (GO:0005887)|ionotropic glutamate receptor complex (GO:0008328)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	extracellular-glutamate-gated ion channel activity (GO:0005234)|glutamate receptor activity (GO:0008066)|ionotropic glutamate receptor activity (GO:0004970)|PDZ domain binding (GO:0030165)|scaffold protein binding (GO:0097110)	p.S104Y(1)		NS(2)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(18)|lung(45)|ovary(3)|prostate(6)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(1)	100		Hepatocellular(203;0.114)|all_hematologic(202;0.177)		OV - Ovarian serous cystadenocarcinoma(123;3.22e-06)|LUSC - Lung squamous cell carcinoma(81;0.185)|Lung(65;0.191)		TCAGCAGGATCCCTCCAGTCT	0.537																																						uc011cdt.1																			1	Substitution - Missense(1)		lung(1)	ovary(3)|skin(2)|large_intestine(1)	6						c.(310-312)TCC>TAC		glutamate receptor, ionotropic, delta 2	L-Glutamic Acid(DB00142)						115.0	93.0	100.0					4																	94006212		2203	4300	6503	SO:0001583	missense	2895				glutamate signaling pathway	cell junction|integral to plasma membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity	g.chr4:94006212C>A	AF009014	CCDS3637.1, CCDS68758.1	4q22	2012-08-29			ENSG00000152208	ENSG00000152208		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4576	protein-coding gene	gene with protein product		602368				9465309	Standard	NM_001510		Approved	GluD2, GluR-delta-2	uc011cdt.2	O43424	OTTHUMG00000130975	ENST00000282020.4:c.311C>A	4.37:g.94006212C>A	ENSP00000282020:p.Ser104Tyr					GRID2_uc010ikx.2_Missense_Mutation_p.S104Y|GRID2_uc011cdu.1_Intron|GRID2_uc011cdv.1_RNA	p.S104Y	NM_001510	NP_001501	O43424	GRID2_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;3.22e-06)|LUSC - Lung squamous cell carcinoma(81;0.185)|Lung(65;0.191)	3	569	+		Hepatocellular(203;0.114)|all_hematologic(202;0.177)	104			Extracellular (Potential).		E9PH24|Q4KKU8|Q4KKU9|Q4KKV0|Q59FZ1	Missense_Mutation	SNP	ENST00000282020.4	37	c.311C>A	CCDS3637.1	.	.	.	.	.	.	.	.	.	.	C	22.2	4.257926	0.80246	.	.	ENSG00000152208	ENST00000282020	D	0.82893	-1.66	5.12	5.12	0.69794	Extracellular ligand-binding receptor (1);	0.119673	0.56097	D	0.000027	D	0.87095	0.6092	L	0.34521	1.04	0.80722	D	1	D;D	0.71674	0.995;0.998	D;D	0.69824	0.939;0.966	D	0.88486	0.3072	10	0.72032	D	0.01	.	18.9145	0.92499	0.0:1.0:0.0:0.0	.	104;45	O43424;B4DYB9	GRID2_HUMAN;.	Y	104	ENSP00000282020:S104Y	ENSP00000282020:S104Y	S	+	2	0	GRID2	94225235	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	4.147000	0.58078	2.553000	0.86117	0.655000	0.94253	TCC		PASS	0.537	GRID2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253588.2			20	67	20	67	---	---	---	---
GRID2	2895	broad.mit.edu	37	4	94693642	94693643	+	Nonsense_Mutation	DNP	CC	CC	AA			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr4:94693642_94693643CC>AA	ENST00000282020.4	+	16	3275_3276	c.3017_3018CC>AA	c.(3016-3018)tCC>tAA	p.S1006*	GRID2_ENST00000510992.1_Nonsense_Mutation_p.S911*	NM_001510.2	NP_001501.2	O43424	GRID2_HUMAN	glutamate receptor, ionotropic, delta 2	1006					cellular protein localization (GO:0034613)|cerebellar granule cell differentiation (GO:0021707)|glutamate receptor signaling pathway (GO:0007215)|heterophilic cell-cell adhesion (GO:0007157)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|prepulse inhibition (GO:0060134)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of neuron apoptotic process (GO:0043523)|regulation of neuron projection development (GO:0010975)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	cell junction (GO:0030054)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|integral component of plasma membrane (GO:0005887)|ionotropic glutamate receptor complex (GO:0008328)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	extracellular-glutamate-gated ion channel activity (GO:0005234)|glutamate receptor activity (GO:0008066)|ionotropic glutamate receptor activity (GO:0004970)|PDZ domain binding (GO:0030165)|scaffold protein binding (GO:0097110)	p.S1006Y(1)|p.S1006*(1)|p.S1006S(1)		NS(2)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(18)|lung(45)|ovary(3)|prostate(6)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(1)	100		Hepatocellular(203;0.114)|all_hematologic(202;0.177)		OV - Ovarian serous cystadenocarcinoma(123;3.22e-06)|LUSC - Lung squamous cell carcinoma(81;0.185)|Lung(65;0.191)		CGAGGCACCTCCATATGAGCAT	0.416																																						uc011cdt.1																			3	Substitution - Missense(1)|Substitution - Nonsense(1)|Substitution - coding silent(1)		lung(3)	ovary(3)|skin(2)|large_intestine(1)	6						c.(3016-3018)TCC>TAC|c.(3016-3018)TCC>TCA		glutamate receptor, ionotropic, delta 2	L-Glutamic Acid(DB00142)																																			SO:0001587	stop_gained	2895				glutamate signaling pathway	cell junction|integral to plasma membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity	g.chr4:94693642C>A|g.chr4:94693643C>A	AF009014	CCDS3637.1, CCDS68758.1	4q22	2012-08-29			ENSG00000152208	ENSG00000152208		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4576	protein-coding gene	gene with protein product		602368				9465309	Standard	NM_001510		Approved	GluD2, GluR-delta-2	uc011cdt.2	O43424	OTTHUMG00000130975	Exception_encountered	4.37:g.94693642_94693643delinsAA	ENSP00000282020:p.Ser1006*					GRID2_uc011cdu.1_Missense_Mutation_p.S911Y|GRID2_uc011cdu.1_Silent_p.S911S	p.S1006Y|p.S1006S	NM_001510	NP_001501	O43424	GRID2_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;3.22e-06)|LUSC - Lung squamous cell carcinoma(81;0.185)|Lung(65;0.191)	16	3275|3276	+		Hepatocellular(203;0.114)|all_hematologic(202;0.177)	1006			PDZ-binding (By similarity).|Cytoplasmic (Potential).		E9PH24|Q4KKU8|Q4KKU9|Q4KKV0|Q59FZ1	Missense_Mutation|Silent	SNP	ENST00000282020.4	37	c.3017C>A|c.3018C>A	CCDS3637.1																																																																																				PASS	0.416	GRID2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253588.2			18	51|50	18	50	---	---	---	---
ADH1A	124	broad.mit.edu	37	4	100205627	100205627	+	Missense_Mutation	SNP	G	G	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr4:100205627G>T	ENST00000209668.2	-	5	609	c.496C>A	c.(496-498)Cct>Act	p.P166T	ADH1A_ENST00000511656.1_5'Flank|RP11-696N14.1_ENST00000500358.2_RNA	NM_000667.3	NP_000658.1	P07327	ADH1A_HUMAN	alcohol dehydrogenase 1A (class I), alpha polypeptide	166					alcohol metabolic process (GO:0006066)|drug metabolic process (GO:0017144)|ethanol oxidation (GO:0006069)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	alcohol dehydrogenase (NAD) activity (GO:0004022)|alcohol dehydrogenase activity, zinc-dependent (GO:0004024)|zinc ion binding (GO:0008270)	p.P166T(1)		endometrium(2)|kidney(2)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(4)|stomach(1)	25				OV - Ovarian serous cystadenocarcinoma(123;9.56e-08)	Ethanol(DB00898)|Fomepizole(DB01213)	TTCTCTAGAGGCGAGGCTGCA	0.478																																						uc003hur.1																			1	Substitution - Missense(1)		lung(1)	large_intestine(1)|ovary(1)	2						c.(496-498)CCT>ACT		class I alcohol dehydrogenase, alpha subunit	Fomepizole(DB01213)|NADH(DB00157)						97.0	94.0	95.0					4																	100205627		2203	4300	6503	SO:0001583	missense	124				ethanol oxidation|transcription, DNA-dependent|xenobiotic metabolic process	cytosol	alcohol dehydrogenase activity, zinc-dependent|protein binding|zinc ion binding	g.chr4:100205627G>T	M12963	CCDS3648.1	4q23	2009-12-04			ENSG00000187758	ENSG00000187758	1.1.1.1	"""Alcohol dehydrogenases"""	249	protein-coding gene	gene with protein product		103700		ADH1		3006456	Standard	NM_000667		Approved		uc003hur.2	P07327	OTTHUMG00000131026	ENST00000209668.2:c.496C>A	4.37:g.100205627G>T	ENSP00000209668:p.Pro166Thr					uc003hum.1_Intron|ADH1A_uc011ceg.1_Missense_Mutation_p.P166T|ADH1A_uc010ilf.1_5'UTR	p.P166T	NM_000667	NP_000658	P07327	ADH1A_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;9.56e-08)	5	567	-			166					A8K3E3|Q17R68	Missense_Mutation	SNP	ENST00000209668.2	37	c.496C>A	CCDS3648.1	.	.	.	.	.	.	.	.	.	.	G	8.914	0.959509	0.18507	.	.	ENSG00000187758	ENST00000209668	T	0.47869	0.83	2.59	2.59	0.31030	GroES-like (1);	0.000000	0.85682	D	0.000000	T	0.72859	0.3513	M	0.91972	3.26	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.80890	-0.1180	10	0.87932	D	0	-3.9436	13.5501	0.61728	0.0:0.0:1.0:0.0	.	166	P07327	ADH1A_HUMAN	T	166	ENSP00000209668:P166T	ENSP00000209668:P166T	P	-	1	0	ADH1A	100424650	1.000000	0.71417	0.155000	0.22561	0.004000	0.04260	4.630000	0.61297	1.430000	0.47334	0.460000	0.39030	CCT		PASS	0.478	ADH1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253669.1	NM_000667		6	54	6	54	---	---	---	---
C4orf17	84103	broad.mit.edu	37	4	100443678	100443678	+	Missense_Mutation	SNP	G	G	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr4:100443678G>T	ENST00000326581.4	+	3	511	c.149G>T	c.(148-150)tGt>tTt	p.C50F	C4orf17_ENST00000514652.1_Missense_Mutation_p.C50F|C4orf17_ENST00000503257.1_3'UTR	NM_032149.2	NP_115525.2	Q53FE4	CD017_HUMAN	chromosome 4 open reading frame 17	50								p.C50F(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)		ATTCCAATCTGTACTGTGAAT	0.373																																						uc003huw.2																			1	Substitution - Missense(1)		lung(1)		0						c.(148-150)TGT>TTT		hypothetical protein LOC84103							150.0	133.0	139.0					4																	100443678		2203	4300	6503	SO:0001583	missense	84103							g.chr4:100443678G>T	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.149G>T	4.37:g.100443678G>T	ENSP00000322582:p.Cys50Phe					C4orf17_uc003hux.2_RNA	p.C50F	NM_032149	NP_115525	Q53FE4	CD017_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;2.08e-08)	3	472	+			50					Q6FI84|Q6IS77|Q8NA78|Q9H0D9	Missense_Mutation	SNP	ENST00000326581.4	37	c.149G>T	CCDS3649.1	.	.	.	.	.	.	.	.	.	.	G	13.96	2.393534	0.42410	.	.	ENSG00000138813	ENST00000326581;ENST00000514652	T;T	0.57752	0.38;0.38	5.02	5.02	0.67125	.	0.000000	0.85682	D	0.000000	T	0.72859	0.3513	M	0.80183	2.485	0.43994	D	0.996699	D	0.89917	1.0	D	0.91635	0.999	T	0.76484	-0.2942	10	0.87932	D	0	-10.192	13.719	0.62714	0.0:0.0:1.0:0.0	.	50	Q53FE4	CD017_HUMAN	F	50	ENSP00000322582:C50F;ENSP00000427663:C50F	ENSP00000322582:C50F	C	+	2	0	C4orf17	100662701	1.000000	0.71417	0.999000	0.59377	0.225000	0.24961	3.865000	0.56033	2.616000	0.88540	0.650000	0.86243	TGT		PASS	0.373	C4orf17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253670.2	NM_032149		26	43	26	43	---	---	---	---
MTTP	4547	broad.mit.edu	37	4	100518257	100518257	+	Silent	SNP	C	C	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr4:100518257C>T	ENST00000265517.5	+	8	1146	c.943C>T	c.(943-945)Ctg>Ttg	p.L315L	MTTP_ENST00000511045.1_Silent_p.L342L|RP11-766F14.1_ENST00000508578.1_RNA|MTTP_ENST00000457717.1_Silent_p.L315L			P55157	MTP_HUMAN	microsomal triglyceride transfer protein	315	Vitellogenin. {ECO:0000255|PROSITE- ProRule:PRU00557}.				cholesterol homeostasis (GO:0042632)|lipid metabolic process (GO:0006629)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|protein lipidation (GO:0006497)|response to calcium ion (GO:0051592)|small molecule metabolic process (GO:0044281)|triglyceride metabolic process (GO:0006641)	basolateral plasma membrane (GO:0016323)|brush border membrane (GO:0031526)|endoplasmic reticulum lumen (GO:0005788)|Golgi apparatus (GO:0005794)|membrane-bounded vesicle (GO:0031988)|microvillus membrane (GO:0031528)|receptor complex (GO:0043235)|rough endoplasmic reticulum (GO:0005791)	lipid binding (GO:0008289)|lipid transporter activity (GO:0005319)	p.L315L(1)		breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(14)|lung(19)|ovary(4)|prostate(5)|skin(1)|urinary_tract(1)	57				OV - Ovarian serous cystadenocarcinoma(123;6.04e-09)	Hesperetin(DB01094)|Lomitapide(DB08827)	CAGGAAATACCTGCAGCCTGA	0.498																																						uc003hvc.3																			1	Substitution - coding silent(1)		lung(1)	ovary(3)|central_nervous_system(1)	4						c.(943-945)CTG>TTG		microsomal triglyceride transfer protein large	Hesperetin(DB01094)						99.0	99.0	99.0					4																	100518257		2203	4300	6503	SO:0001819	synonymous_variant	4547				lipid metabolic process|lipoprotein metabolic process	endoplasmic reticulum lumen	lipid binding|lipid transporter activity	g.chr4:100518257C>T		CCDS3651.1, CCDS75169.1	4q24	2008-02-05	2005-11-04	2005-11-04	ENSG00000138823	ENSG00000138823			7467	protein-coding gene	gene with protein product		157147	"""microsomal triglyceride transfer protein (large polypeptide, 88kD)"", ""microsomal triglyceride transfer protein (large polypeptide, 88kDa)"""	MTP		8111381	Standard	XM_005263025		Approved	ABL	uc003hvc.4	P55157	OTTHUMG00000131023	ENST00000265517.5:c.943C>T	4.37:g.100518257C>T						MTTP_uc011cej.1_Silent_p.L342L	p.L315L	NM_000253	NP_000244	P55157	MTP_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;6.04e-09)	9	1199	+			315			Vitellogenin.		A8K428|Q08AM4|Q6P5T3	Silent	SNP	ENST00000265517.5	37	c.943C>T	CCDS3651.1																																																																																				PASS	0.498	MTTP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253662.3			49	106	49	106	---	---	---	---
CENPE	1062	broad.mit.edu	37	4	104064497	104064497	+	Missense_Mutation	SNP	C	C	G			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr4:104064497C>G	ENST00000265148.3	-	34	5301	c.5212G>C	c.(5212-5214)Gat>Cat	p.D1738H	CENPE_ENST00000380026.3_Missense_Mutation_p.D1713H	NM_001813.2	NP_001804.2	Q02224	CENPE_HUMAN	centromere protein E, 312kDa	1738					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|kinetochore assembly (GO:0051382)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic chromosome movement towards spindle pole (GO:0007079)|mitotic metaphase plate congression (GO:0007080)|multicellular organismal development (GO:0007275)|positive regulation of protein kinase activity (GO:0045860)|regulation of mitotic metaphase/anaphase transition (GO:0030071)	chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|condensed chromosome outer kinetochore (GO:0000940)|condensed chromosome, centromeric region (GO:0000779)|condensed nuclear chromosome kinetochore (GO:0000778)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinesin complex (GO:0005871)|kinetochore (GO:0000776)|membrane (GO:0016020)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|midbody (GO:0030496)|mitotic spindle midzone (GO:1990023)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|kinetochore binding (GO:0043515)|microtubule motor activity (GO:0003777)	p.D1738H(1)		NS(3)|breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(20)|lung(34)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(5)|urinary_tract(3)	101				OV - Ovarian serous cystadenocarcinoma(123;2.95e-08)		CTTAGTTTATCAATAGTTTCT	0.303																																						uc003hxb.1																			1	Substitution - Missense(1)		lung(1)	ovary(5)|breast(4)	9						c.(5212-5214)GAT>CAT		centromere protein E							170.0	169.0	169.0					4																	104064497		2203	4298	6501	SO:0001583	missense	1062				blood coagulation|cell division|kinetochore assembly|microtubule-based movement|mitotic chromosome movement towards spindle pole|mitotic metaphase|mitotic metaphase plate congression|mitotic prometaphase|multicellular organismal development|positive regulation of protein kinase activity	condensed chromosome kinetochore|cytosol|microtubule|nucleus|spindle	ATP binding|kinetochore binding|microtubule motor activity	g.chr4:104064497C>G	Z15005	CCDS34042.1, CCDS68768.1	4q24-q25	2013-11-05	2002-08-29			ENSG00000138778		"""Kinesins"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	1856	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 61"""	117143	"""centromere protein E (312kD)"""			7851898	Standard	NM_001286734		Approved	KIF10, PPP1R61	uc003hxb.1	Q02224		ENST00000265148.3:c.5212G>C	4.37:g.104064497C>G	ENSP00000265148:p.Asp1738His					CENPE_uc003hxc.1_Missense_Mutation_p.D1713H|CENPE_uc003hxd.1_5'Flank	p.D1738H	NM_001813	NP_001804	Q02224	CENPE_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;2.95e-08)	34	5302	-			1738			Potential.		A6NKY9|A8K2U7|Q4LE75	Missense_Mutation	SNP	ENST00000265148.3	37	c.5212G>C	CCDS34042.1	.	.	.	.	.	.	.	.	.	.	C	11.66	1.706339	0.30232	.	.	ENSG00000138778	ENST00000265148;ENST00000394771;ENST00000380026	T;T	0.72282	-0.64;-0.64	5.16	3.42	0.39159	.	.	.	.	.	T	0.73289	0.3568	L	0.48642	1.525	0.09310	N	1	D;B	0.57257	0.979;0.376	P;B	0.57911	0.829;0.08	T	0.61317	-0.7087	9	0.56958	D	0.05	.	7.6167	0.28163	0.0:0.8007:0.0:0.1993	.	1713;1738	Q02224-3;Q02224	.;CENPE_HUMAN	H	1738;1738;1713	ENSP00000265148:D1738H;ENSP00000369365:D1713H	ENSP00000265148:D1738H	D	-	1	0	CENPE	104283946	0.000000	0.05858	0.053000	0.19242	0.428000	0.31595	0.140000	0.16056	0.665000	0.31066	0.643000	0.83706	GAT		PASS	0.303	CENPE-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				50	89	50	89	---	---	---	---
ETNPPL	64850	broad.mit.edu	37	4	109670424	109670424	+	Missense_Mutation	SNP	G	G	C			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr4:109670424G>C	ENST00000296486.3	-	8	1051	c.897C>G	c.(895-897)ttC>ttG	p.F299L	ETNPPL_ENST00000512646.1_Missense_Mutation_p.F241L|ETNPPL_ENST00000510706.1_Missense_Mutation_p.F259L|ETNPPL_ENST00000411864.2_Missense_Mutation_p.F293L	NM_001146590.1|NM_031279.3	NP_001140062.1|NP_112569.2	Q8TBG4	AT2L1_HUMAN	ethanolamine-phosphate phospho-lyase	299						mitochondrion (GO:0005739)	ethanolamine-phosphate phospho-lyase activity (GO:0050459)|pyridoxal phosphate binding (GO:0030170)|transaminase activity (GO:0008483)	p.F299L(1)									CAGAGCTGCTGAAGGCTTCTG	0.418																																						uc003hzc.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(895-897)TTC>TTG		alanine-glyoxylate aminotransferase 2-like 1							73.0	72.0	72.0					4																	109670424		2203	4300	6503	SO:0001583	missense	64850				cellular amino acid metabolic process	mitochondrion	alanine-glyoxylate transaminase activity|pyridoxal phosphate binding	g.chr4:109670424G>C	AJ298293	CCDS3682.1, CCDS54792.1, CCDS54793.1	4q25	2013-06-12	2013-06-12	2013-06-12	ENSG00000164089	ENSG00000164089	4.2.3.2		14404	protein-coding gene	gene with protein product		614682	"""alanine-glyoxylate aminotransferase 2-like 1"""	AGXT2L1		7592550, 22241472	Standard	NM_031279		Approved		uc003hzc.3	Q8TBG4	OTTHUMG00000161036	ENST00000296486.3:c.897C>G	4.37:g.109670424G>C	ENSP00000296486:p.Phe299Leu					AGXT2L1_uc010imc.2_Missense_Mutation_p.F293L|AGXT2L1_uc011cfm.1_Missense_Mutation_p.F259L|AGXT2L1_uc011cfn.1_Missense_Mutation_p.F226L|AGXT2L1_uc011cfo.1_Missense_Mutation_p.F241L	p.F299L	NM_031279	NP_112569	Q8TBG4	AT2L1_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000281)	8	1078	-			299					B7Z1Y0|E9PBY0|Q9H174	Missense_Mutation	SNP	ENST00000296486.3	37	c.897C>G	CCDS3682.1	.	.	.	.	.	.	.	.	.	.	G	22.3	4.267251	0.80469	.	.	ENSG00000164089	ENST00000296486;ENST00000411864;ENST00000512646;ENST00000510706	D;D;D;D	0.85773	-2.03;-2.03;-2.03;-2.03	5.32	4.24	0.50183	Pyridoxal phosphate-dependent transferase, major region, subdomain 1 (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.000000	0.85682	D	0.000000	T	0.79581	0.4470	L	0.35414	1.06	0.58432	D	0.99999	P;B;P	0.49447	0.476;0.421;0.924	P;B;P	0.50754	0.534;0.399;0.649	T	0.76482	-0.2943	9	.	.	.	-13.0288	3.8995	0.09154	0.3362:0.0:0.6638:0.0	.	241;293;299	E9PBY0;Q8TBG4-2;Q8TBG4	.;.;AT2L1_HUMAN	L	299;293;241;259	ENSP00000296486:F299L;ENSP00000392269:F293L;ENSP00000427065:F241L;ENSP00000423240:F259L	.	F	-	3	2	AGXT2L1	109889873	0.986000	0.35501	1.000000	0.80357	0.996000	0.88848	1.677000	0.37576	2.635000	0.89317	0.650000	0.86243	TTC		PASS	0.418	ETNPPL-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000363508.1	NM_031279		9	66	9	66	---	---	---	---
COL25A1	84570	broad.mit.edu	37	4	110221759	110221759	+	Nonsense_Mutation	SNP	G	G	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr4:110221759G>T	ENST00000399132.1	-	3	877	c.347C>A	c.(346-348)tCa>tAa	p.S116*	COL25A1_ENST00000399127.1_Nonsense_Mutation_p.S116*|AC004051.2_ENST00000500526.1_lincRNA|COL25A1_ENST00000399126.1_Nonsense_Mutation_p.S116*	NM_198721.2	NP_942014.1			collagen, type XXV, alpha 1									p.S116*(2)		NS(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(19)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	49		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000173)		GTTACATTCTGAAGGTGCTTC	0.383																																						uc003hze.1																			2	Substitution - Nonsense(2)		lung(2)	ovary(2)	2						c.(346-348)TCA>TAA		collagen, type XXV, alpha 1 isoform 1							187.0	167.0	174.0					4																	110221759		1852	4098	5950	SO:0001587	stop_gained	84570					collagen|extracellular space	beta-amyloid binding|heparin binding	g.chr4:110221759G>T	AF293340	CCDS43258.1, CCDS43259.1, CCDS58922.1	4q25	2013-01-16			ENSG00000188517	ENSG00000188517		"""Collagens"""	18603	protein-coding gene	gene with protein product		610004				11927537	Standard	NM_001256074		Approved		uc003hze.2	Q9BXS0	OTTHUMG00000150039	ENST00000399132.1:c.347C>A	4.37:g.110221759G>T	ENSP00000382083:p.Ser116*					COL25A1_uc003hzg.2_Nonsense_Mutation_p.S116*|COL25A1_uc003hzh.1_Nonsense_Mutation_p.S116*	p.S116*	NM_198721	NP_942014	Q9BXS0	COPA1_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000173)	3	878	-		Hepatocellular(203;0.217)	116			Extracellular (Potential).			Nonsense_Mutation	SNP	ENST00000399132.1	37	c.347C>A	CCDS43258.1	.	.	.	.	.	.	.	.	.	.	G	41	8.551262	0.98859	.	.	ENSG00000188517	ENST00000399132;ENST00000333642;ENST00000401873;ENST00000399127;ENST00000399126;ENST00000443653	.	.	.	5.38	2.64	0.31445	.	0.412923	0.18054	N	0.153168	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.3784	9.7823	0.40656	0.2419:0.0:0.7581:0.0	.	.	.	.	X	116	.	.	S	-	2	0	COL25A1	110441208	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.836000	0.48183	0.736000	0.32559	0.650000	0.86243	TCA		PASS	0.383	COL25A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315938.2	NM_032518		26	55	26	55	---	---	---	---
SEC24B	10427	broad.mit.edu	37	4	110402874	110402874	+	Missense_Mutation	SNP	G	G	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr4:110402874G>T	ENST00000265175.5	+	4	1157	c.1102G>T	c.(1102-1104)Gca>Tca	p.A368S	SEC24B_ENST00000399100.2_Intron|SEC24B_ENST00000504968.2_Missense_Mutation_p.A399S	NM_006323.2	NP_006314.2	O95487	SC24B_HUMAN	SEC24 family member B	368					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|aorta morphogenesis (GO:0035909)|auditory receptor cell stereocilium organization (GO:0060088)|cellular protein metabolic process (GO:0044267)|cochlear nucleus development (GO:0021747)|COPII vesicle coating (GO:0048208)|coronary artery morphogenesis (GO:0060982)|ER to Golgi vesicle-mediated transport (GO:0006888)|intracellular protein transport (GO:0006886)|lung lobe morphogenesis (GO:0060463)|membrane organization (GO:0061024)|neural tube closure (GO:0001843)|outflow tract morphogenesis (GO:0003151)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|pulmonary artery morphogenesis (GO:0061156)|regulation of cargo loading into COPII-coated vesicle (GO:1901301)|regulation of establishment of planar polarity involved in neural tube closure (GO:0090178)|small molecule metabolic process (GO:0044281)|vesicle-mediated transport (GO:0016192)	COPII vesicle coat (GO:0030127)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)|membrane (GO:0016020)	transporter activity (GO:0005215)|zinc ion binding (GO:0008270)	p.A368S(1)		breast(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(12)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;3.03e-05)		AGCTAGCTCCGCACCAACTCC	0.433																																						uc003hzk.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|large_intestine(1)	3						c.(1102-1104)GCA>TCA		SEC24 (S. cerevisiae) homolog B isoform a							189.0	180.0	183.0					4																	110402874		1949	4165	6114	SO:0001583	missense	10427				COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|cytosol|endoplasmic reticulum membrane|Golgi membrane|perinuclear region of cytoplasm	protein binding|transporter activity|zinc ion binding	g.chr4:110402874G>T	AJ131245	CCDS43260.1, CCDS47124.1, CCDS75179.1	4q25	2013-10-21	2013-10-21		ENSG00000138802	ENSG00000138802			10704	protein-coding gene	gene with protein product		607184	"""SEC24 (S. cerevisiae) related gene family, member B"", ""SEC24 family, member B (S. cerevisiae)"""			10075675, 10329445	Standard	XM_005262688		Approved		uc003hzk.3	O95487	OTTHUMG00000161372	ENST00000265175.5:c.1102G>T	4.37:g.110402874G>T	ENSP00000265175:p.Ala368Ser					SEC24B_uc003hzl.2_Intron|SEC24B_uc011cfp.1_Missense_Mutation_p.A399S|SEC24B_uc011cfq.1_Missense_Mutation_p.A368S|SEC24B_uc011cfr.1_Intron	p.A368S	NM_006323	NP_006314	O95487	SC24B_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;3.03e-05)	4	1157	+		Hepatocellular(203;0.217)	368					B7ZKM8|B7ZKN4|Q0VG08	Missense_Mutation	SNP	ENST00000265175.5	37	c.1102G>T	CCDS47124.1	.	.	.	.	.	.	.	.	.	.	G	15.17	2.754952	0.49362	.	.	ENSG00000138802	ENST00000504968;ENST00000265175	T;T	0.78707	-1.02;-1.2	5.56	4.71	0.59529	.	0.314743	0.26927	N	0.021800	T	0.57695	0.2071	N	0.24115	0.695	0.51482	D	0.99992	P;P	0.44429	0.835;0.732	B;B	0.33568	0.166;0.166	T	0.55566	-0.8121	10	0.18276	T	0.48	-11.2431	9.9949	0.41893	0.0757:0.139:0.7853:0.0	.	399;368	B7ZKM8;O95487	.;SC24B_HUMAN	S	399;368	ENSP00000428564:A399S;ENSP00000265175:A368S	ENSP00000265175:A368S	A	+	1	0	SEC24B	110622323	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.717000	0.54911	1.322000	0.45245	0.650000	0.86243	GCA		PASS	0.433	SEC24B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000364693.2			19	143	19	143	---	---	---	---
ENPEP	2028	broad.mit.edu	37	4	111397698	111397698	+	Missense_Mutation	SNP	G	G	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr4:111397698G>T	ENST00000265162.5	+	1	470	c.128G>T	c.(127-129)tGt>tTt	p.C43F		NM_001977.3	NP_001968.3	Q07075	AMPE_HUMAN	glutamyl aminopeptidase (aminopeptidase A)	43					angiogenesis (GO:0001525)|angiotensin catabolic process in blood (GO:0002005)|angiotensin maturation (GO:0002003)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cell-cell signaling (GO:0007267)|cellular protein metabolic process (GO:0044267)|glomerulus development (GO:0032835)|regulation of systemic arterial blood pressure by renin-angiotensin (GO:0003081)	apical part of cell (GO:0045177)|apical plasma membrane (GO:0016324)|brush border (GO:0005903)|cytoplasmic vesicle (GO:0031410)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	aminopeptidase activity (GO:0004177)|metalloaminopeptidase activity (GO:0070006)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.C43F(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(22)|ovary(1)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(1)	54		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.0031)		ACCAGATCGTGTGACTCCAGC	0.612																																						uc003iab.3																			1	Substitution - Missense(1)		lung(1)	skin(3)|ovary(1)|breast(1)	5						c.(127-129)TGT>TTT		glutamyl aminopeptidase	L-Glutamic Acid(DB00142)						181.0	170.0	173.0					4																	111397698		2203	4300	6503	SO:0001583	missense	2028				cell migration|cell proliferation|cell-cell signaling|proteolysis	integral to plasma membrane	aminopeptidase activity|metalloexopeptidase activity|zinc ion binding	g.chr4:111397698G>T	L12468	CCDS3691.1	4q25	2008-02-05			ENSG00000138792	ENSG00000138792	3.4.11.7	"""CD molecules"""	3355	protein-coding gene	gene with protein product		138297				9268642	Standard	NM_001977		Approved	gp160, CD249	uc003iab.4	Q07075	OTTHUMG00000132546	ENST00000265162.5:c.128G>T	4.37:g.111397698G>T	ENSP00000265162:p.Cys43Phe						p.C43F	NM_001977	NP_001968	Q07075	AMPE_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.0031)	1	470	+		Hepatocellular(203;0.217)	43			Extracellular (Potential).		Q504U2	Missense_Mutation	SNP	ENST00000265162.5	37	c.128G>T	CCDS3691.1	.	.	.	.	.	.	.	.	.	.	G	10.82	1.458336	0.26248	.	.	ENSG00000138792	ENST00000265162	T	0.01287	5.05	5.57	2.85	0.33270	.	0.985526	0.08302	N	0.966791	T	0.01905	0.0060	L	0.54323	1.7	0.09310	N	1	P	0.35600	0.511	B	0.31751	0.135	T	0.48281	-0.9049	10	0.48119	T	0.1	.	4.7657	0.13130	0.2958:0.2796:0.4246:0.0	.	43	Q07075	AMPE_HUMAN	F	43	ENSP00000265162:C43F	ENSP00000265162:C43F	C	+	2	0	ENPEP	111617147	0.001000	0.12720	0.000000	0.03702	0.511000	0.34104	1.229000	0.32600	0.281000	0.22233	0.313000	0.20887	TGT		PASS	0.612	ENPEP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255747.2			14	115	14	115	---	---	---	---
NEUROG2	63973	broad.mit.edu	37	4	113436086	113436086	+	Silent	SNP	C	C	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr4:113436086C>A	ENST00000313341.3	-	2	872	c.546G>T	c.(544-546)ccG>ccT	p.P182P	RP11-402J6.1_ENST00000504009.1_RNA|RP11-402J6.1_ENST00000506057.1_RNA	NM_024019.3	NP_076924.1	Q9H2A3	NGN2_HUMAN	neurogenin 2	182					axon guidance (GO:0007411)|cell fate commitment (GO:0045165)|cell maturation (GO:0048469)|central nervous system neuron development (GO:0021954)|forebrain development (GO:0030900)|neuron migration (GO:0001764)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	E-box binding (GO:0070888)|sequence-specific DNA binding (GO:0043565)	p.P182P(1)		central_nervous_system(1)|large_intestine(3)|lung(6)|skin(2)	12		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.00168)		AGAgcgcccccggcaggcccc	0.716																																						uc003ias.2																			1	Substitution - coding silent(1)		lung(1)	skin(2)|central_nervous_system(1)	3						c.(544-546)CCG>CCT		neurogenin 2							9.0	13.0	11.0					4																	113436086		2177	4261	6438	SO:0001819	synonymous_variant	63973				positive regulation of sequence-specific DNA binding transcription factor activity|transcription, DNA-dependent	nucleus	E-box binding	g.chr4:113436086C>A	AF303002	CCDS3698.1	4q25	2013-05-21			ENSG00000178403	ENSG00000178403		"""Basic helix-loop-helix proteins"""	13805	protein-coding gene	gene with protein product		606624					Standard	NM_024019		Approved	Atoh4, Math4A, ngn-2, bHLHa8, NGN2	uc003ias.3	Q9H2A3	OTTHUMG00000132907	ENST00000313341.3:c.546G>T	4.37:g.113436086C>A							p.P182P	NM_024019	NP_076924	Q9H2A3	NGN2_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.00168)	2	873	-		Ovarian(17;0.156)	182					Q8N416	Silent	SNP	ENST00000313341.3	37	c.546G>T	CCDS3698.1																																																																																				PASS	0.716	NEUROG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256414.1	NM_024019		3	3	3	3	---	---	---	---
METTL14	57721	broad.mit.edu	37	4	119609096	119609096	+	Missense_Mutation	SNP	G	G	T	rs200462174		TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr4:119609096G>T	ENST00000388822.5	+	2	252	c.85G>T	c.(85-87)Gac>Tac	p.D29Y	METTL14_ENST00000506780.1_5'UTR			Q9HCE5	MET14_HUMAN	methyltransferase like 14	29					mRNA destabilization (GO:0061157)|mRNA methylation (GO:0080009)|stem cell maintenance (GO:0019827)	MIS complex (GO:0036396)|nucleus (GO:0005634)	mRNA (2'-O-methyladenosine-N6-)-methyltransferase activity (GO:0016422)|RNA binding (GO:0003723)	p.D29Y(1)		endometrium(3)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)|stomach(1)	16						TGAAAGTGCCGACAGCATTGG	0.373																																						uc003icf.2																			1	Substitution - Missense(1)		lung(1)		0						c.(85-87)GAC>TAC		methyltransferase like 14		G	TYR/ASP	0,4406		0,0,2203	92.0	91.0	91.0		85	5.5	1.0	4		91	1,8599	1.2+/-3.3	0,1,4299	yes	missense	METTL14	NM_020961.2	160	0,1,6502	TT,TG,GG		0.0116,0.0,0.0077	possibly-damaging	29/457	119609096	1,13005	2203	4300	6503	SO:0001583	missense	57721					nucleus	mRNA (2'-O-methyladenosine-N6-)-methyltransferase activity	g.chr4:119609096G>T	AB046847	CCDS34053.1	4q26	2009-02-24			ENSG00000145388	ENSG00000145388			29330	protein-coding gene	gene with protein product						10997877	Standard	NM_020961		Approved	KIAA1627	uc003icf.3	Q9HCE5	OTTHUMG00000161167	ENST00000388822.5:c.85G>T	4.37:g.119609096G>T	ENSP00000373474:p.Asp29Tyr					METTL14_uc003icg.2_5'UTR	p.D29Y	NM_020961	NP_066012	Q9HCE5	MTL14_HUMAN			2	201	+			29					A6NIG1|Q969V2	Missense_Mutation	SNP	ENST00000388822.5	37	c.85G>T	CCDS34053.1	.	.	.	.	.	.	.	.	.	.	g	28.7	4.947019	0.92593	0.0	1.16E-4	ENSG00000145388	ENST00000388822;ENST00000508801	.	.	.	5.5	5.5	0.81552	.	0.090707	0.85682	D	0.000000	T	0.76371	0.3978	L	0.52573	1.65	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	T	0.77351	-0.2620	9	0.87932	D	0	-11.6819	19.7782	0.96405	0.0:0.0:1.0:0.0	.	29	Q9HCE5	MTL14_HUMAN	Y	29;79	.	ENSP00000373474:D29Y	D	+	1	0	METTL14	119828544	1.000000	0.71417	0.991000	0.47740	0.995000	0.86356	9.029000	0.93718	2.762000	0.94881	0.643000	0.83706	GAC		PASS	0.373	METTL14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364034.3	NM_020961		11	44	11	44	---	---	---	---
ANKRD50	57182	broad.mit.edu	37	4	125592529	125592529	+	Missense_Mutation	SNP	C	C	G	rs148381297		TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr4:125592529C>G	ENST00000504087.1	-	4	2940	c.1903G>C	c.(1903-1905)Gta>Cta	p.V635L	ANKRD50_ENST00000515641.1_Missense_Mutation_p.V456L	NM_020337.2	NP_065070.1	Q9ULJ7	ANR50_HUMAN	ankyrin repeat domain 50	635								p.V635L(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(14)|lung(18)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	55						TCCACTTTTACGCCAGCATAA	0.458																																						uc003ifg.3																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1						c.(1903-1905)GTA>CTA		ankyrin repeat domain 50							132.0	119.0	123.0					4																	125592529		2203	4300	6503	SO:0001583	missense	57182							g.chr4:125592529C>G	AB033049	CCDS34060.1, CCDS54802.1	4q28.1	2013-01-10			ENSG00000151458	ENSG00000151458		"""Ankyrin repeat domain containing"""	29223	protein-coding gene	gene with protein product							Standard	NM_020337		Approved	KIAA1223	uc010inw.3	Q9ULJ7	OTTHUMG00000161398	ENST00000504087.1:c.1903G>C	4.37:g.125592529C>G	ENSP00000425658:p.Val635Leu					ANKRD50_uc011cgo.1_Missense_Mutation_p.V456L|ANKRD50_uc010inw.2_Missense_Mutation_p.V635L	p.V635L	NM_020337	NP_065070	Q9ULJ7	ANR50_HUMAN			3	2169	-			635			ANK 5.		A8K4V3|B4DHJ6|E9PDW0|Q6N064|Q6ZSE6	Missense_Mutation	SNP	ENST00000504087.1	37	c.1903G>C	CCDS34060.1	.	.	.	.	.	.	.	.	.	.	C	12.73	2.025677	0.35701	.	.	ENSG00000151458	ENST00000504087;ENST00000515641	T;T	0.15834	2.39;2.39	5.21	5.21	0.72293	Ankyrin repeat-containing domain (4);	0.074547	0.56097	D	0.000034	T	0.19967	0.0480	L	0.37750	1.13	0.41804	D	0.989939	B	0.26902	0.163	B	0.31869	0.137	T	0.05115	-1.0905	10	0.87932	D	0	.	18.9425	0.92610	0.0:1.0:0.0:0.0	.	635	Q9ULJ7	ANR50_HUMAN	L	635;456	ENSP00000425658:V635L;ENSP00000425355:V456L	ENSP00000425658:V635L	V	-	1	0	ANKRD50	125811979	1.000000	0.71417	0.467000	0.27180	0.441000	0.31987	7.133000	0.77259	2.714000	0.92807	0.585000	0.79938	GTA		PASS	0.458	ANKRD50-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364775.1	NM_020337		13	104	13	104	---	---	---	---
LARP1B	55132	broad.mit.edu	37	4	129127647	129127647	+	Missense_Mutation	SNP	A	A	G	rs200140211		TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr4:129127647A>G	ENST00000326639.6	+	18	2585	c.2374A>G	c.(2374-2376)Att>Gtt	p.I792V	LARP1B_ENST00000354456.3_Missense_Mutation_p.I211V|LARP1B_ENST00000264584.5_Missense_Mutation_p.I733V|LARP1B_ENST00000506199.1_3'UTR|LARP1B_ENST00000441387.1_Intron	NM_018078.2	NP_060548.2	Q659C4	LAR1B_HUMAN	La ribonucleoprotein domain family, member 1B	792						nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)	p.I792V(1)		endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(7)|lung(11)|ovary(1)|prostate(3)	34						CAGGCGAGAAATTTTTCAGGA	0.303																																						uc003iga.2																			1	Substitution - Missense(1)		lung(1)		0						c.(2374-2376)ATT>GTT		La ribonucleoprotein domain family member 2		A	VAL/ILE	0,4406		0,0,2203	50.0	59.0	56.0		2374	4.9	1.0	4		56	4,8588	3.7+/-12.6	0,4,4292	yes	missense	LARP1B	NM_018078.2	29	0,4,6495	GG,GA,AA		0.0466,0.0,0.0308	benign	792/915	129127647	4,12994	2203	4296	6499	SO:0001583	missense	55132						RNA binding	g.chr4:129127647A>G		CCDS3738.1, CCDS47133.1, CCDS64057.1	4q28.2	2009-06-09	2009-06-09	2009-06-09	ENSG00000138709	ENSG00000138709		"""La ribonucleoprotein domain containing"""	24704	protein-coding gene	gene with protein product			"""La ribonucleoprotein domain family, member 2"""	LARP2		12045101	Standard	NM_018078		Approved	FLJ10378, DKFZp434K245, DKFZp686E0316	uc003iga.3	Q659C4	OTTHUMG00000133343	ENST00000326639.6:c.2374A>G	4.37:g.129127647A>G	ENSP00000321997:p.Ile792Val					LARP1B_uc003igc.2_Missense_Mutation_p.I211V|LARP1B_uc010ioa.1_RNA|LARP1B_uc003ige.2_Intron|LARP1B_uc003igd.2_RNA|LARP1B_uc003igf.2_Intron	p.I792V	NM_018078	NP_060548	Q659C4	LAR1B_HUMAN			18	2505	+			792					Q2YDB6|Q4W599|Q4W5B2|Q659A0|Q6P5X2|Q7Z3F7|Q86VK7|Q8N6F4|Q8N7H4|Q8NAF2|Q9H5E7|Q9NW12	Missense_Mutation	SNP	ENST00000326639.6	37	c.2374A>G	CCDS3738.1	.	.	.	.	.	.	.	.	.	.	A	12.94	2.088936	0.36855	0.0	4.66E-4	ENSG00000138709	ENST00000326639;ENST00000264584;ENST00000354456	T;T;T	0.28069	1.63;1.63;1.63	4.93	4.93	0.64822	.	0.132065	0.49916	D	0.000128	T	0.25865	0.0630	L	0.39147	1.195	0.34605	D	0.716919	B;P	0.42785	0.028;0.79	B;B	0.42422	0.017;0.387	T	0.31081	-0.9956	10	0.22109	T	0.4	.	10.1217	0.42625	0.8509:0.0:0.0:0.1491	.	211;792	Q659C4-5;Q659C4	.;LAR1B_HUMAN	V	792;733;211	ENSP00000321997:I792V;ENSP00000264584:I733V;ENSP00000346444:I211V	ENSP00000264584:I733V	I	+	1	0	LARP1B	129347097	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	2.857000	0.48349	2.087000	0.62958	0.454000	0.30748	ATT		PASS	0.303	LARP1B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257173.2	NM_018078		10	73	10	73	---	---	---	---
INPP4B	8821	broad.mit.edu	37	4	143029265	143029265	+	Missense_Mutation	SNP	C	C	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr4:143029265C>A	ENST00000513000.1	-	24	2788	c.2355G>T	c.(2353-2355)atG>atT	p.M785I	INPP4B_ENST00000262992.4_Missense_Mutation_p.M785I|INPP4B_ENST00000308502.4_Missense_Mutation_p.M785I|INPP4B_ENST00000508116.1_Missense_Mutation_p.M785I|INPP4B_ENST00000509777.1_Missense_Mutation_p.M785I	NM_003866.2	NP_003857.2	O15327	INP4B_HUMAN	inositol polyphosphate-4-phosphatase, type II, 105kDa	785					cellular calcium ion homeostasis (GO:0006874)|inositol phosphate metabolic process (GO:0043647)|negative regulation of osteoclast differentiation (GO:0045671)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|regulation of bone remodeling (GO:0046850)|regulation of nucleocytoplasmic transport (GO:0046822)|regulation of protein kinase B signaling (GO:0051896)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|Golgi apparatus (GO:0005794)	lipid binding (GO:0008289)|phosphatidylinositol trisphosphate phosphatase activity (GO:0034594)|phosphatidylinositol-3,4-bisphosphate 4-phosphatase activity (GO:0016316)|phosphatidylinositol-4,5-bisphosphate 4-phosphatase activity (GO:0034597)	p.M785I(1)		breast(3)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(29)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	58	all_hematologic(180;0.158)					GCATCTTTTCCATAAATATCT	0.328																																						uc003iix.3																			1	Substitution - Missense(1)		lung(1)	ovary(1)|lung(1)	2						c.(2353-2355)ATG>ATT		inositol polyphosphate-4-phosphatase, type II,							80.0	83.0	82.0					4																	143029265		2201	4299	6500	SO:0001583	missense	8821				signal transduction		phosphatidylinositol-3,4-bisphosphate 4-phosphatase activity|phosphatidylinositol-4,5-bisphosphate 4-phosphatase activity	g.chr4:143029265C>A	U96922	CCDS3757.1	4q31.1	2008-02-05	2002-08-29			ENSG00000109452			6075	protein-coding gene	gene with protein product		607494	"""inositol polyphosphate-4-phosphatase, type II, 105kD"""			9295334	Standard	NM_003866		Approved		uc003iiw.4	O15327		ENST00000513000.1:c.2355G>T	4.37:g.143029265C>A	ENSP00000425487:p.Met785Ile					INPP4B_uc003iiw.3_Missense_Mutation_p.M785I|INPP4B_uc011chm.1_RNA|INPP4B_uc011chn.1_Missense_Mutation_p.M600I|INPP4B_uc011cho.1_RNA	p.M785I	NM_003866	NP_003857	O15327	INP4B_HUMAN			24	2950	-	all_hematologic(180;0.158)		785					Q2TAI2|Q5XLE7|Q6IN59|Q6PJB4	Missense_Mutation	SNP	ENST00000513000.1	37	c.2355G>T	CCDS3757.1	.	.	.	.	.	.	.	.	.	.	C	12.38	1.920186	0.33908	.	.	ENSG00000109452	ENST00000513000;ENST00000262992;ENST00000308502;ENST00000543161;ENST00000508116;ENST00000509777;ENST00000511838;ENST00000542702;ENST00000510812;ENST00000514525	T;T;T;T;T;T;T;T	0.29397	2.0;2.0;2.0;2.0;2.0;1.99;1.57;1.57	5.63	3.75	0.43078	.	0.160134	0.53938	D	0.000053	T	0.14356	0.0347	N	0.12182	0.205	0.31020	N	0.718235	B	0.13145	0.007	B	0.08055	0.003	T	0.03463	-1.1034	10	0.34782	T	0.22	.	5.4425	0.16517	0.2198:0.5893:0.1137:0.0772	.	785	O15327	INP4B_HUMAN	I	785;785;785;656;785;785;600;600;785;656	ENSP00000425487:M785I;ENSP00000262992:M785I;ENSP00000308441:M785I;ENSP00000423954:M785I;ENSP00000422793:M785I;ENSP00000426207:M600I;ENSP00000427250:M785I;ENSP00000421065:M656I	ENSP00000262992:M785I	M	-	3	0	INPP4B	143248715	0.995000	0.38212	1.000000	0.80357	0.987000	0.75469	0.432000	0.21461	2.641000	0.89580	0.650000	0.86243	ATG		PASS	0.328	INPP4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364587.1	NM_003866		7	48	7	48	---	---	---	---
DCHS2	54798	broad.mit.edu	37	4	155158210	155158210	+	Missense_Mutation	SNP	G	G	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr4:155158210G>T	ENST00000357232.4	-	25	6228	c.6229C>A	c.(6229-6231)Ctt>Att	p.L2077I		NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2	2077	Cadherin 18. {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.L2077I(1)		NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		ACTAAAGTAAGAGCTCTCAGG	0.393																																						uc003inw.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|pancreas(1)	4						c.(6229-6231)CTT>ATT		dachsous 2 isoform 1							104.0	106.0	105.0					4																	155158210		2203	4300	6503	SO:0001583	missense	54798				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:155158210G>T	BC140919	CCDS3785.1, CCDS47150.1	4q32.1	2014-06-04	2013-10-04	2004-09-03		ENSG00000197410		"""Cadherins / Cadherin-related"""	23111	protein-coding gene	gene with protein product	"""cadherin-related family member 7"""	612486	"""cadherin-like 27"", ""dachsous 2 (Drosophila)"""	CDH27, PCDH23		15003449	Standard	NM_017639		Approved	CDHJ, FLJ20047, PCDHJ, CDHR7	uc003inw.2	Q6V1P9		ENST00000357232.4:c.6229C>A	4.37:g.155158210G>T	ENSP00000349768:p.Leu2077Ile						p.L2077I	NM_017639	NP_060109	Q6V1P9	PCD23_HUMAN		LUSC - Lung squamous cell carcinoma(193;0.107)	25	6229	-	all_hematologic(180;0.208)	Renal(120;0.0854)	2077			Cadherin 18.		B2RU14|E9PC11|Q4W5P9|Q6ZS61|Q9NXU8	Missense_Mutation	SNP	ENST00000357232.4	37	c.6229C>A	CCDS3785.1	.	.	.	.	.	.	.	.	.	.	G	0.484	-0.878386	0.02550	.	.	ENSG00000197410	ENST00000357232	T	0.51325	0.71	5.67	0.436	0.16549	Cadherin (4);Cadherin-like (1);	0.970840	0.08467	N	0.941553	T	0.30916	0.0780	N	0.25031	0.7	0.21020	N	0.999809	B	0.18461	0.028	B	0.19391	0.025	T	0.27400	-1.0075	10	0.19147	T	0.46	.	7.9877	0.30222	0.0751:0.568:0.2512:0.1057	.	2077	Q6V1P9	PCD23_HUMAN	I	2077	ENSP00000349768:L2077I	ENSP00000349768:L2077I	L	-	1	0	DCHS2	155377660	0.090000	0.21635	0.001000	0.08648	0.012000	0.07955	0.307000	0.19296	0.019000	0.15079	0.557000	0.71058	CTT		PASS	0.393	DCHS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365281.2	NM_001142552		29	67	29	67	---	---	---	---
FGA	2243	broad.mit.edu	37	4	155507006	155507006	+	Silent	SNP	A	A	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr4:155507006A>T	ENST00000302053.3	-	5	1653	c.1575T>A	c.(1573-1575)acT>acA	p.T525T	FGA_ENST00000403106.3_Silent_p.T525T	NM_000508.3	NP_000499.1	P02671	FIBA_HUMAN	fibrinogen alpha chain	525					blood coagulation (GO:0007596)|blood coagulation, common pathway (GO:0072377)|cell-matrix adhesion (GO:0007160)|cellular protein complex assembly (GO:0043623)|extracellular matrix organization (GO:0030198)|negative regulation of blood coagulation, common pathway (GO:2000261)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of exocytosis (GO:0045921)|positive regulation of heterotypic cell-cell adhesion (GO:0034116)|positive regulation of peptide hormone secretion (GO:0090277)|positive regulation of protein secretion (GO:0050714)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive regulation of vasoconstriction (GO:0045907)|protein polymerization (GO:0051258)|response to calcium ion (GO:0051592)|signal transduction (GO:0007165)	blood microparticle (GO:0072562)|cell cortex (GO:0005938)|cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|fibrinogen complex (GO:0005577)|plasma membrane (GO:0005886)|platelet alpha granule (GO:0031091)|platelet alpha granule lumen (GO:0031093)|vesicle (GO:0031982)	structural molecule activity (GO:0005198)	p.T525T(1)		NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	73	all_hematologic(180;0.215)	Renal(120;0.0458)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Sucralfate(DB00364)|Tenecteplase(DB00031)	ATGTTTTTCCAGTTGAGGCAG	0.488																																					NSCLC(143;340 1922 20892 22370 48145)	uc003iod.1																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|breast(1)	3						c.(1573-1575)ACT>ACA		fibrinogen, alpha polypeptide isoform alpha-E	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Sucralfate(DB00364)|Tenecteplase(DB00031)						78.0	79.0	78.0					4																	155507006		2203	4300	6503	SO:0001819	synonymous_variant	2243				platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction	external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen	eukaryotic cell surface binding|protein binding, bridging|receptor binding	g.chr4:155507006A>T		CCDS3787.1, CCDS47152.1	4q28	2014-09-17			ENSG00000171560	ENSG00000171560		"""Fibrinogen C domain containing"", ""Endogenous ligands"""	3661	protein-coding gene	gene with protein product		134820	"""fibrinogen, A alpha polypeptide"""				Standard	NM_000508		Approved		uc003iod.1	P02671	OTTHUMG00000150330	ENST00000302053.3:c.1575T>A	4.37:g.155507006A>T						FGA_uc003ioe.1_Silent_p.T525T|FGA_uc003iof.1_Intron	p.T525T	NM_000508	NP_000499	P02671	FIBA_HUMAN			5	1633	-	all_hematologic(180;0.215)	Renal(120;0.0458)	525			By similarity.		A8K3E4|D3DP14|D3DP15|Q4QQH7|Q9BX62|Q9UCH2	Silent	SNP	ENST00000302053.3	37	c.1575T>A	CCDS3787.1																																																																																				PASS	0.488	FGA-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317593.1	NM_000508		3	78	3	78	---	---	---	---
VEGFC	7424	broad.mit.edu	37	4	177650717	177650717	+	Missense_Mutation	SNP	C	C	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr4:177650717C>T	ENST00000280193.2	-	2	746	c.331G>A	c.(331-333)Gca>Aca	p.A111T	VEGFC_ENST00000507638.1_5'UTR	NM_005429.2	NP_005420	P49767	VEGFC_HUMAN	vascular endothelial growth factor C	111					angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|induction of positive chemotaxis (GO:0050930)|morphogenesis of embryonic epithelium (GO:0016331)|negative regulation of blood pressure (GO:0045776)|negative regulation of cell proliferation (GO:0008285)|organ morphogenesis (GO:0009887)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive chemotaxis (GO:0050918)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of cell division (GO:0051781)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of lymphangiogenesis (GO:1901492)|positive regulation of mast cell chemotaxis (GO:0060754)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein autophosphorylation (GO:0031954)|positive regulation of protein secretion (GO:0050714)|regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030947)|response to drug (GO:0042493)|signal transduction (GO:0007165)|substrate-dependent cell migration (GO:0006929)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)|platelet alpha granule lumen (GO:0031093)	chemoattractant activity (GO:0042056)	p.A111T(1)		biliary_tract(1)|cervix(1)|large_intestine(6)|lung(28)|pancreas(1)|prostate(2)|skin(2)	41		Breast(14;0.000223)|Renal(120;0.00988)|Prostate(90;0.00996)|Melanoma(52;0.0101)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;1.59e-18)|Epithelial(43;3.68e-16)|OV - Ovarian serous cystadenocarcinoma(60;8.52e-09)|GBM - Glioblastoma multiforme(59;0.000546)|STAD - Stomach adenocarcinoma(60;0.00308)|Colorectal(24;0.025)|COAD - Colon adenocarcinoma(29;0.0359)|LUSC - Lung squamous cell carcinoma(193;0.0397)		TAATGTGCTGCAGCAAATTTT	0.383																																						uc003ius.1																			1	Substitution - Missense(1)		lung(1)	lung(5)	5						c.(331-333)GCA>ACA		vascular endothelial growth factor C							143.0	130.0	134.0					4																	177650717		1869	4094	5963	SO:0001583	missense	7424				angiogenesis|induction of positive chemotaxis|platelet activation|platelet degranulation|positive regulation of cell division|positive regulation of mast cell chemotaxis|substrate-dependent cell migration|vascular endothelial growth factor receptor signaling pathway	membrane|platelet alpha granule lumen	chemoattractant activity|growth factor activity	g.chr4:177650717C>T	BC035212	CCDS43285.1	4q34.3	2013-02-18				ENSG00000150630			12682	protein-coding gene	gene with protein product	"""vascular endothelial growth factor-related protein"""	601528				8617204	Standard	NM_005429		Approved	VRP	uc003ius.1	P49767		ENST00000280193.2:c.331G>A	4.37:g.177650717C>T	ENSP00000280193:p.Ala111Thr						p.A111T	NM_005429	NP_005420	P49767	VEGFC_HUMAN		all cancers(43;1.59e-18)|Epithelial(43;3.68e-16)|OV - Ovarian serous cystadenocarcinoma(60;8.52e-09)|GBM - Glioblastoma multiforme(59;0.000546)|STAD - Stomach adenocarcinoma(60;0.00308)|Colorectal(24;0.025)|COAD - Colon adenocarcinoma(29;0.0359)|LUSC - Lung squamous cell carcinoma(193;0.0397)	2	761	-		Breast(14;0.000223)|Renal(120;0.00988)|Prostate(90;0.00996)|Melanoma(52;0.0101)|all_hematologic(60;0.107)|all_neural(102;0.164)	111					B2R9Q8	Missense_Mutation	SNP	ENST00000280193.2	37	c.331G>A	CCDS43285.1	.	.	.	.	.	.	.	.	.	.	C	17.63	3.437645	0.62955	.	.	ENSG00000150630	ENST00000280193	.	.	.	5.06	5.06	0.68205	.	0.000000	0.85682	D	0.000000	T	0.79076	0.4385	M	0.75777	2.31	0.80722	D	1	D	0.89917	1.0	D	0.68353	0.957	T	0.80901	-0.1175	9	0.59425	D	0.04	-16.4514	18.7848	0.91949	0.0:1.0:0.0:0.0	.	111	P49767	VEGFC_HUMAN	T	111	.	ENSP00000280193:A111T	A	-	1	0	VEGFC	177887711	1.000000	0.71417	0.988000	0.46212	0.027000	0.11550	6.760000	0.74939	2.534000	0.85438	0.484000	0.47621	GCA		PASS	0.383	VEGFC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361991.1	NM_005429		22	56	22	56	---	---	---	---
AHRR	57491	broad.mit.edu	37	5	344045	344045	+	Missense_Mutation	SNP	G	G	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr5:344045G>T	ENST00000505113.1	+	2	84	c.40G>T	c.(40-42)Gcg>Tcg	p.A14S	AHRR_ENST00000316418.5_Missense_Mutation_p.A14S|AHRR_ENST00000515206.1_Missense_Mutation_p.A10S|AHRR_ENST00000512529.1_5'UTR	NM_001242412.1	NP_001229341.1	A9YTQ3	AHRR_HUMAN	aryl-hydrocarbon receptor repressor	14					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of protein sumoylation (GO:0033235)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|signal transducer activity (GO:0004871)	p.A10S(1)		breast(2)|endometrium(4)|large_intestine(1)|lung(12)|prostate(1)	20			Epithelial(17;0.0011)|OV - Ovarian serous cystadenocarcinoma(19;0.00353)|all cancers(22;0.00354)|Lung(60;0.0863)			GTGCACGTACGCGGGCCGGAA	0.662																																						uc003jav.2																			1	Substitution - Missense(1)		lung(1)	breast(2)	2						c.(40-42)GCG>TCG		arylhydrocarbon receptor repressor							33.0	42.0	39.0					5																	344045		1898	4110	6008	SO:0001583	missense	57491				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|signal transducer activity	g.chr5:344045G>T	AB033060	CCDS43297.1, CCDS56355.1	5p15.33	2013-05-21	2003-09-11	2003-09-12	ENSG00000063438	ENSG00000063438		"""Basic helix-loop-helix proteins"""	346	protein-coding gene	gene with protein product		606517	"""aryl hydrocarbon receptor regulator"""	AHH, AHHR		1070014, 11423533	Standard	NM_020731		Approved	KIAA1234, bHLHe77	uc003jaw.3	A9YTQ3	OTTHUMG00000162171	ENST00000505113.1:c.40G>T	5.37:g.344045G>T	ENSP00000424601:p.Ala14Ser					AHRR_uc003jaw.2_Missense_Mutation_p.A10S|AHRR_uc010isy.2_5'UTR|AHRR_uc010isz.2_Missense_Mutation_p.A10S	p.A14S	NM_020731	NP_065782	A9YTQ3	AHRR_HUMAN	Epithelial(17;0.0011)|OV - Ovarian serous cystadenocarcinoma(19;0.00353)|all cancers(22;0.00354)|Lung(60;0.0863)		2	84	+			14					A7MBN5|D6RAZ1|Q9HAZ3|Q9ULI6	Missense_Mutation	SNP	ENST00000505113.1	37	c.40G>T	CCDS56355.1	.	.	.	.	.	.	.	.	.	.	-	17.73	3.461099	0.63513	.	.	ENSG00000063438	ENST00000505113;ENST00000316418;ENST00000510400;ENST00000515206;ENST00000504625	T;T;T	0.53857	1.67;1.67;0.6	4.4	4.4	0.53042	.	0.065810	0.64402	D	0.000011	T	0.65811	0.2727	L	0.49126	1.545	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	T	0.68625	-0.5359	10	0.87932	D	0	.	13.2033	0.59780	0.0:0.0:1.0:0.0	.	14;14	A9YTQ3;A9YTQ3-2	AHRR_HUMAN;.	S	14;14;10;10;10	ENSP00000424601:A14S;ENSP00000323816:A14S;ENSP00000428893:A10S	ENSP00000323816:A14S	A	+	1	0	AHRR	397045	1.000000	0.71417	0.068000	0.19968	0.065000	0.16274	5.768000	0.68858	2.392000	0.81423	0.447000	0.29281	GCG		PASS	0.662	AHRR-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000367720.1	NM_020731		16	22	16	22	---	---	---	---
SLC6A19	340024	broad.mit.edu	37	5	1201812	1201812	+	Missense_Mutation	SNP	C	C	T	rs201925289		TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr5:1201812C>T	ENST00000304460.10	+	1	103	c.47C>T	c.(46-48)cCg>cTg	p.P16L		NM_001003841.2	NP_001003841.1	Q695T7	S6A19_HUMAN	solute carrier family 6 (neutral amino acid transporter), member 19	16					amino acid transport (GO:0006865)|ion transport (GO:0006811)|response to nutrient (GO:0007584)|transmembrane transport (GO:0055085)	brush border membrane (GO:0031526)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	neurotransmitter:sodium symporter activity (GO:0005328)|neutral amino acid transmembrane transporter activity (GO:0015175)	p.P16L(1)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|lung(25)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	44	all_cancers(3;3.55e-15)|Lung NSC(6;2.89e-14)|all_lung(6;2.2e-13)|all_epithelial(6;3.75e-10)		Epithelial(17;0.000356)|all cancers(22;0.00137)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)			GCCCGGATCCCGTCCCTGGCT	0.677																																						uc003jbw.3																			1	Substitution - Missense(1)		lung(1)		0						c.(46-48)CCG>CTG		solute carrier family 6, member 19		C	LEU/PRO	0,4394		0,0,2197	39.0	36.0	37.0		47	2.3	0.9	5		37	1,8597	1.2+/-3.3	0,1,4298	no	missense	SLC6A19	NM_001003841.2	98	0,1,6495	TT,TC,CC		0.0116,0.0,0.0077	benign	16/635	1201812	1,12991	2197	4299	6496	SO:0001583	missense	340024				cellular nitrogen compound metabolic process	integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity	g.chr5:1201812C>T	AK096054	CCDS34130.1	5p15	2013-07-19			ENSG00000174358	ENSG00000174358		"""Solute carriers"""	27960	protein-coding gene	gene with protein product	"""Hartnup disease"""	608893					Standard	NM_001003841		Approved		uc003jbw.4	Q695T7	OTTHUMG00000161636	ENST00000304460.10:c.47C>T	5.37:g.1201812C>T	ENSP00000305302:p.Pro16Leu						p.P16L	NM_001003841	NP_001003841	Q695T7	S6A19_HUMAN	Epithelial(17;0.000356)|all cancers(22;0.00137)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)		1	103	+	all_cancers(3;3.55e-15)|Lung NSC(6;2.89e-14)|all_lung(6;2.2e-13)|all_epithelial(6;3.75e-10)		16			Cytoplasmic (Potential).		A8K446	Missense_Mutation	SNP	ENST00000304460.10	37	c.47C>T	CCDS34130.1	.	.	.	.	.	.	.	.	.	.	C	7.798	0.712957	0.15306	0.0	1.16E-4	ENSG00000174358	ENST00000304460	T	0.74002	-0.8	4.03	2.26	0.28386	.	0.358725	0.29233	N	0.012757	T	0.55465	0.1922	N	0.24115	0.695	0.50313	D	0.999868	B	0.13594	0.008	B	0.10450	0.005	T	0.43410	-0.9393	10	0.42905	T	0.14	.	5.3915	0.16247	0.1589:0.6699:0.0:0.1712	.	16	Q695T7	S6A19_HUMAN	L	16	ENSP00000305302:P16L	ENSP00000305302:P16L	P	+	2	0	SLC6A19	1254812	0.960000	0.32886	0.888000	0.34837	0.039000	0.13416	2.224000	0.42945	0.374000	0.24650	-0.369000	0.07265	CCG		PASS	0.677	SLC6A19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365557.1	XM_291120		7	32	7	32	---	---	---	---
ADAMTS16	170690	broad.mit.edu	37	5	5242188	5242188	+	Missense_Mutation	SNP	C	C	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr5:5242188C>A	ENST00000274181.7	+	17	2684	c.2546C>A	c.(2545-2547)cCg>cAg	p.P849Q		NM_139056.2	NP_620687.2	Q8TE57	ATS16_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 16	849	Spacer.				branching involved in ureteric bud morphogenesis (GO:0001658)	proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.P849Q(2)		breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(72)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	107						GGAAGGAACCCGGGTGTTGCC	0.512																																						uc003jdl.2																			2	Substitution - Missense(2)		lung(2)	ovary(3)|lung(2)|large_intestine(1)|breast(1)|pancreas(1)	8						c.(2545-2547)CCG>CAG		ADAM metallopeptidase with thrombospondin type 1							57.0	61.0	60.0					5																	5242188		1904	4120	6024	SO:0001583	missense	170690				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr5:5242188C>A	AJ315734	CCDS43299.1	5p15	2008-07-18	2005-08-19		ENSG00000145536	ENSG00000145536		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	17108	protein-coding gene	gene with protein product		607510	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 16"""			11867212	Standard	NM_139056		Approved	ADAMTS16s	uc003jdl.3	Q8TE57	OTTHUMG00000161663	ENST00000274181.7:c.2546C>A	5.37:g.5242188C>A	ENSP00000274181:p.Pro849Gln					ADAMTS16_uc003jdk.1_Missense_Mutation_p.P849Q	p.P849Q	NM_139056	NP_620687	Q8TE57	ATS16_HUMAN			17	2684	+			849			Spacer.		C6G490|Q8IVE2	Missense_Mutation	SNP	ENST00000274181.7	37	c.2546C>A	CCDS43299.1	.	.	.	.	.	.	.	.	.	.	C	15.13	2.743240	0.49151	.	.	ENSG00000145536	ENST00000274181;ENST00000536857	T	0.54479	0.57	5.77	4.9	0.64082	ADAM-TS Spacer 1 (1);	0.062950	0.64402	D	0.000005	T	0.71013	0.3290	M	0.79805	2.47	0.58432	D	0.999998	D;D	0.89917	1.0;0.966	D;P	0.78314	0.991;0.733	T	0.73173	-0.4066	10	0.51188	T	0.08	.	10.616	0.45451	0.0:0.8445:0.0:0.1555	.	849;849	Q8TE57;Q8TE57-2	ATS16_HUMAN;.	Q	849	ENSP00000274181:P849Q	ENSP00000274181:P849Q	P	+	2	0	ADAMTS16	5295188	0.998000	0.40836	0.885000	0.34714	0.255000	0.26057	3.866000	0.56040	1.437000	0.47472	0.650000	0.86243	CCG		PASS	0.512	ADAMTS16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365657.1	NM_139056		33	101	33	101	---	---	---	---
ADCY2	108	broad.mit.edu	37	5	7707951	7707951	+	Splice_Site	SNP	G	G	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr5:7707951G>T	ENST00000338316.4	+	9	1490	c.1401G>T	c.(1399-1401)aaG>aaT	p.K467N	ADCY2_ENST00000537121.1_Splice_Site_p.K287N|RP11-711G10.1_ENST00000514105.2_RNA	NM_020546.2	NP_065433.2	Q08462	ADCY2_HUMAN	adenylate cyclase 2 (brain)	467					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|cAMP biosynthetic process (GO:0006171)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|membrane (GO:0016020)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	adenylate cyclase activity (GO:0004016)|adenylate cyclase binding (GO:0008179)|ATP binding (GO:0005524)|calcium- and calmodulin-responsive adenylate cyclase activity (GO:0008294)|metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)	p.K467N(1)		NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(56)|ovary(8)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	119						TCAACCCCAAGGTCAGTATCA	0.373																																						uc003jdz.1																			1	Substitution - Missense(1)		lung(1)	ovary(5)|pancreas(1)|skin(1)	7						c.(1399-1401)AAG>AAT		adenylate cyclase 2							87.0	88.0	88.0					5																	7707951		2203	4300	6503	SO:0001630	splice_region_variant	108				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	cytoplasm|dendrite|integral to membrane|plasma membrane	ATP binding|metal ion binding	g.chr5:7707951G>T	AB028983	CCDS3872.2	5p15.3	2013-02-04			ENSG00000078295	ENSG00000078295	4.6.1.1	"""Adenylate cyclases"""	233	protein-coding gene	gene with protein product		103071				1427768	Standard	NM_020546		Approved	HBAC2, KIAA1060, AC2	uc003jdz.1	Q08462	OTTHUMG00000090476	ENST00000338316.4:c.1401+1G>T	5.37:g.7707951G>T						ADCY2_uc011cmo.1_Missense_Mutation_p.K287N	p.K467N	NM_020546	NP_065433	Q08462	ADCY2_HUMAN			9	1468	+			467			Cytoplasmic (Potential).		B7Z2C1|Q2NKL8|Q9UDB2|Q9UPU2	Missense_Mutation	SNP	ENST00000338316.4	37	c.1401G>T	CCDS3872.2	.	.	.	.	.	.	.	.	.	.	G	23.6	4.439206	0.83885	.	.	ENSG00000078295	ENST00000338316;ENST00000541993;ENST00000537121	T;D	0.82619	-1.16;-1.63	5.66	5.66	0.87406	Adenylyl cyclase class-3/4/guanylyl cyclase (1);	0.000000	0.85682	D	0.000000	D	0.87466	0.6184	L	0.55481	1.735	0.80722	D	1	D;P	0.55172	0.97;0.786	P;P	0.54590	0.756;0.468	D	0.87510	0.2439	10	0.62326	D	0.03	.	20.1225	0.97967	0.0:0.0:1.0:0.0	.	287;467	B7Z2C1;Q08462	.;ADCY2_HUMAN	N	467;318;287	ENSP00000342952:K467N;ENSP00000444803:K287N	ENSP00000342952:K467N	K	+	3	2	ADCY2	7760951	1.000000	0.71417	1.000000	0.80357	0.941000	0.58515	7.155000	0.77445	2.831000	0.97527	0.650000	0.86243	AAG		PASS	0.373	ADCY2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206930.2	NM_020546	Missense_Mutation	50	93	50	93	---	---	---	---
ADCY2	108	broad.mit.edu	37	5	7709399	7709399	+	Missense_Mutation	SNP	C	C	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr5:7709399C>A	ENST00000338316.4	+	10	1566	c.1477C>A	c.(1477-1479)Cgc>Agc	p.R493S	ADCY2_ENST00000537121.1_Missense_Mutation_p.R313S|RP11-711G10.1_ENST00000514105.2_RNA	NM_020546.2	NP_065433.2	Q08462	ADCY2_HUMAN	adenylate cyclase 2 (brain)	493					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|cAMP biosynthetic process (GO:0006171)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|membrane (GO:0016020)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	adenylate cyclase activity (GO:0004016)|adenylate cyclase binding (GO:0008179)|ATP binding (GO:0005524)|calcium- and calmodulin-responsive adenylate cyclase activity (GO:0008294)|metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)	p.R493S(1)		NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(56)|ovary(8)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	119						GGCCTCGGTCCGCATGACCCG	0.587																																						uc003jdz.1																			1	Substitution - Missense(1)		lung(1)	ovary(5)|pancreas(1)|skin(1)	7						c.(1477-1479)CGC>AGC		adenylate cyclase 2							75.0	63.0	67.0					5																	7709399		2203	4300	6503	SO:0001583	missense	108				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	cytoplasm|dendrite|integral to membrane|plasma membrane	ATP binding|metal ion binding	g.chr5:7709399C>A	AB028983	CCDS3872.2	5p15.3	2013-02-04			ENSG00000078295	ENSG00000078295	4.6.1.1	"""Adenylate cyclases"""	233	protein-coding gene	gene with protein product		103071				1427768	Standard	NM_020546		Approved	HBAC2, KIAA1060, AC2	uc003jdz.1	Q08462	OTTHUMG00000090476	ENST00000338316.4:c.1477C>A	5.37:g.7709399C>A	ENSP00000342952:p.Arg493Ser					ADCY2_uc011cmo.1_Missense_Mutation_p.R313S	p.R493S	NM_020546	NP_065433	Q08462	ADCY2_HUMAN			10	1544	+			493			Cytoplasmic (Potential).		B7Z2C1|Q2NKL8|Q9UDB2|Q9UPU2	Missense_Mutation	SNP	ENST00000338316.4	37	c.1477C>A	CCDS3872.2	.	.	.	.	.	.	.	.	.	.	c	17.55	3.418522	0.62622	.	.	ENSG00000078295	ENST00000338316;ENST00000537121	T;T	0.81247	-1.0;-1.47	5.62	4.73	0.59995	.	0.052729	0.64402	N	0.000001	T	0.79919	0.4529	L	0.55103	1.725	0.47308	D	0.999385	B;P	0.43909	0.022;0.821	B;P	0.44946	0.044;0.465	T	0.77678	-0.2498	10	0.29301	T	0.29	.	15.7895	0.78343	0.1372:0.8628:0.0:0.0	.	313;493	B7Z2C1;Q08462	.;ADCY2_HUMAN	S	493;313	ENSP00000342952:R493S;ENSP00000444803:R313S	ENSP00000342952:R493S	R	+	1	0	ADCY2	7762399	0.990000	0.36364	0.934000	0.37439	0.985000	0.73830	2.958000	0.49145	1.330000	0.45394	0.558000	0.71614	CGC		PASS	0.587	ADCY2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206930.2	NM_020546		26	79	26	79	---	---	---	---
ADCY2	108	broad.mit.edu	37	5	7773087	7773087	+	Missense_Mutation	SNP	G	G	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr5:7773087G>T	ENST00000338316.4	+	18	2346	c.2257G>T	c.(2257-2259)Gtg>Ttg	p.V753L	ADCY2_ENST00000537121.1_Missense_Mutation_p.V573L	NM_020546.2	NP_065433.2	Q08462	ADCY2_HUMAN	adenylate cyclase 2 (brain)	753					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|cAMP biosynthetic process (GO:0006171)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|membrane (GO:0016020)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	adenylate cyclase activity (GO:0004016)|adenylate cyclase binding (GO:0008179)|ATP binding (GO:0005524)|calcium- and calmodulin-responsive adenylate cyclase activity (GO:0008294)|metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)	p.V753L(1)		NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(56)|ovary(8)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	119						ATCCTGTTCCGTGTTCCTGCG	0.493																																						uc003jdz.1																			1	Substitution - Missense(1)		lung(1)	ovary(5)|pancreas(1)|skin(1)	7						c.(2257-2259)GTG>TTG		adenylate cyclase 2							292.0	249.0	263.0					5																	7773087		2203	4300	6503	SO:0001583	missense	108				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	cytoplasm|dendrite|integral to membrane|plasma membrane	ATP binding|metal ion binding	g.chr5:7773087G>T	AB028983	CCDS3872.2	5p15.3	2013-02-04			ENSG00000078295	ENSG00000078295	4.6.1.1	"""Adenylate cyclases"""	233	protein-coding gene	gene with protein product		103071				1427768	Standard	NM_020546		Approved	HBAC2, KIAA1060, AC2	uc003jdz.1	Q08462	OTTHUMG00000090476	ENST00000338316.4:c.2257G>T	5.37:g.7773087G>T	ENSP00000342952:p.Val753Leu					ADCY2_uc011cmo.1_Missense_Mutation_p.V573L	p.V753L	NM_020546	NP_065433	Q08462	ADCY2_HUMAN			18	2324	+			753			Helical; (Potential).		B7Z2C1|Q2NKL8|Q9UDB2|Q9UPU2	Missense_Mutation	SNP	ENST00000338316.4	37	c.2257G>T	CCDS3872.2	.	.	.	.	.	.	.	.	.	.	G	15.48	2.845126	0.51164	.	.	ENSG00000078295	ENST00000338316;ENST00000541993;ENST00000537121	T;D	0.82803	-1.18;-1.65	4.87	4.87	0.63330	.	0.135099	0.49916	D	0.000137	T	0.80747	0.4682	L	0.52206	1.635	0.54753	D	0.999986	B;B	0.24721	0.055;0.11	B;B	0.32289	0.09;0.143	T	0.76849	-0.2807	10	0.30078	T	0.28	.	15.807	0.78520	0.0:0.0:1.0:0.0	.	573;753	B7Z2C1;Q08462	.;ADCY2_HUMAN	L	753;586;573	ENSP00000342952:V753L;ENSP00000444803:V573L	ENSP00000342952:V753L	V	+	1	0	ADCY2	7826087	1.000000	0.71417	0.111000	0.21465	0.972000	0.66771	9.023000	0.93683	2.261000	0.74972	0.467000	0.42956	GTG		PASS	0.493	ADCY2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206930.2	NM_020546		137	231	137	231	---	---	---	---
MTRR	4552	broad.mit.edu	37	5	7870910	7870910	+	Missense_Mutation	SNP	G	G	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr5:7870910G>T	ENST00000264668.2	+	2	114	c.84G>T	c.(82-84)atG>atT	p.M28I	MTRR_ENST00000502509.1_Intron|FASTKD3_ENST00000264669.5_5'Flank|MTRR_ENST00000440940.2_Start_Codon_SNP_p.M1I|MTRR_ENST00000341013.6_Start_Codon_SNP_p.M1I|FASTKD3_ENST00000513658.1_5'Flank	NM_002454.2|NM_024010.2	NP_002445.2|NP_076915.2	Q9UBK8	MTRR_HUMAN	5-methyltetrahydrofolate-homocysteine methyltransferase reductase	28					cellular nitrogen compound metabolic process (GO:0034641)|cobalamin metabolic process (GO:0009235)|DNA methylation (GO:0006306)|folic acid metabolic process (GO:0046655)|methionine biosynthetic process (GO:0009086)|methionine metabolic process (GO:0006555)|methylation (GO:0032259)|oxidation-reduction process (GO:0055114)|small molecule metabolic process (GO:0044281)|sulfur amino acid metabolic process (GO:0000096)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intermediate filament cytoskeleton (GO:0045111)|nucleus (GO:0005634)	[methionine synthase] reductase activity (GO:0030586)|flavin adenine dinucleotide binding (GO:0050660)|FMN binding (GO:0010181)|iron ion binding (GO:0005506)|NADP binding (GO:0050661)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NAD(P)H as one donor, and incorporation of one atom of oxygen (GO:0016709)|oxidoreductase activity, oxidizing metal ions, NAD or NADP as acceptor (GO:0016723)	p.M28I(1)		NS(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(14)|ovary(1)|prostate(3)|stomach(1)	31					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)|L-Methionine(DB00134)	TTGAAGTGATGAGGAGGTTTC	0.403																																						uc003jed.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(82-84)ATG>ATT		methionine synthase reductase isoform 2	Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)|L-Methionine(DB00134)						124.0	113.0	117.0					5																	7870910		2203	4300	6503	SO:0001583	missense	4552				methionine biosynthetic process	cytosol	[methionine synthase] reductase activity|flavin adenine dinucleotide binding|FMN binding|iron ion binding|NADP binding	g.chr5:7870910G>T	AF025794	CCDS3874.1, CCDS47190.1	5p15.31	2011-05-12			ENSG00000124275	ENSG00000124275	1.16.1.8		7473	protein-coding gene	gene with protein product		602568				9501215	Standard	NM_024010		Approved	cblE	uc003jed.3	Q9UBK8	OTTHUMG00000090477	ENST00000264668.2:c.84G>T	5.37:g.7870910G>T	ENSP00000264668:p.Met28Ile					FASTKD3_uc011cmp.1_5'Flank|FASTKD3_uc003jeb.2_5'Flank|FASTKD3_uc003jec.2_5'Flank|MTRR_uc010itn.1_RNA|MTRR_uc003jee.3_Missense_Mutation_p.M1I|MTRR_uc003jef.3_RNA|MTRR_uc003jeg.3_RNA|MTRR_uc010ito.2_RNA	p.M28I	NM_024010	NP_076915	Q9UBK8	MTRR_HUMAN			2	114	+			28					O60471|Q32MA9|Q7Z4M8	Missense_Mutation	SNP	ENST00000264668.2	37	c.84G>T	CCDS3874.1	.	.	.	.	.	.	.	.	.	.	G	14.51	2.557964	0.45590	.	.	ENSG00000124275	ENST00000264668;ENST00000341013;ENST00000440940;ENST00000502550;ENST00000506877;ENST00000512217	T;T;T;T;T;T	0.61274	0.12;0.12;0.12;0.12;0.12;0.12	5.46	5.46	0.80206	.	0.425178	0.28442	N	0.015327	T	0.33323	0.0859	N	0.08118	0	0.80722	D	1	P	0.44195	0.828	B	0.39465	0.3	T	0.15838	-1.0423	10	0.38643	T	0.18	-25.5132	7.1159	0.25416	0.2065:0.0:0.7935:0.0	.	28	Q9UBK8	MTRR_HUMAN	I	28;1;1;1;1;1	ENSP00000264668:M28I;ENSP00000341918:M1I;ENSP00000402510:M1I;ENSP00000424599:M1I;ENSP00000427416:M1I;ENSP00000421318:M1I	ENSP00000264668:M28I	M	+	3	0	MTRR	7923910	1.000000	0.71417	0.943000	0.38184	0.201000	0.24016	2.203000	0.42752	2.559000	0.86315	0.655000	0.94253	ATG		PASS	0.403	MTRR-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000206931.1			35	90	35	90	---	---	---	---
SEMA5A	9037	broad.mit.edu	37	5	9052120	9052120	+	Missense_Mutation	SNP	C	C	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr5:9052120C>A	ENST00000382496.5	-	20	3375	c.2710G>T	c.(2710-2712)Gac>Tac	p.D904Y	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	904	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.D904Y(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						TCAGACCAGTCCGACCACTCC	0.592																																						uc003jek.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.(2710-2712)GAC>TAC		semaphorin 5A precursor							28.0	30.0	30.0					5																	9052120		2203	4300	6503	SO:0001583	missense	9037				cell adhesion|cell-cell signaling	integral to membrane|plasma membrane		g.chr5:9052120C>A	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.2710G>T	5.37:g.9052120C>A	ENSP00000371936:p.Asp904Tyr						p.D904Y	NM_003966	NP_003957	Q13591	SEM5A_HUMAN			20	3422	-			904			Extracellular (Potential).|TSP type-1 7.		D3DTC6|O60408|Q1RLL9	Missense_Mutation	SNP	ENST00000382496.5	37	c.2710G>T	CCDS3875.1	.	.	.	.	.	.	.	.	.	.	C	12.80	2.047066	0.36085	.	.	ENSG00000112902	ENST00000382496	T	0.53857	0.6	5.12	3.31	0.37934	.	0.438065	0.26010	N	0.026897	T	0.54127	0.1839	L	0.39245	1.2	0.18873	N	0.999987	B	0.33171	0.4	P	0.46208	0.507	T	0.50676	-0.8800	10	0.34782	T	0.22	.	13.7868	0.63115	0.0:0.7069:0.2931:0.0	.	904	Q13591	SEM5A_HUMAN	Y	904	ENSP00000371936:D904Y	ENSP00000371936:D904Y	D	-	1	0	SEMA5A	9105120	0.798000	0.28890	0.041000	0.18516	0.196000	0.23810	3.107000	0.50329	0.637000	0.30526	0.655000	0.94253	GAC		PASS	0.592	SEMA5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206989.2			17	40	17	40	---	---	---	---
SEMA5A	9037	broad.mit.edu	37	5	9063065	9063065	+	Missense_Mutation	SNP	A	A	G			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr5:9063065A>G	ENST00000382496.5	-	18	3117	c.2452T>C	c.(2452-2454)Tat>Cat	p.Y818H		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	818	TSP type-1 5. {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.Y818H(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						ATTCCCCCATACTTGGGTTCG	0.552																																						uc003jek.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.(2452-2454)TAT>CAT		semaphorin 5A precursor							109.0	88.0	95.0					5																	9063065		2203	4300	6503	SO:0001583	missense	9037				cell adhesion|cell-cell signaling	integral to membrane|plasma membrane		g.chr5:9063065A>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.2452T>C	5.37:g.9063065A>G	ENSP00000371936:p.Tyr818His						p.Y818H	NM_003966	NP_003957	Q13591	SEM5A_HUMAN			18	3164	-			818			TSP type-1 5.|Extracellular (Potential).		D3DTC6|O60408|Q1RLL9	Missense_Mutation	SNP	ENST00000382496.5	37	c.2452T>C	CCDS3875.1	.	.	.	.	.	.	.	.	.	.	A	10.84	1.463130	0.26248	.	.	ENSG00000112902	ENST00000382496	T	0.51325	0.71	5.65	4.48	0.54585	.	0.184764	0.49305	D	0.000146	T	0.28267	0.0698	N	0.12637	0.245	0.41808	D	0.989955	B	0.30482	0.281	B	0.37387	0.248	T	0.08722	-1.0708	10	0.17832	T	0.49	.	5.2816	0.15678	0.7608:0.0:0.0834:0.1558	.	818	Q13591	SEM5A_HUMAN	H	818	ENSP00000371936:Y818H	ENSP00000371936:Y818H	Y	-	1	0	SEMA5A	9116065	1.000000	0.71417	0.973000	0.42090	0.785000	0.44390	4.990000	0.63876	0.966000	0.38159	0.533000	0.62120	TAT		PASS	0.552	SEMA5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206989.2			34	91	34	91	---	---	---	---
SEMA5A	9037	broad.mit.edu	37	5	9237981	9237981	+	Nonsense_Mutation	SNP	C	C	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr5:9237981C>A	ENST00000382496.5	-	6	957	c.292G>T	c.(292-294)Gaa>Taa	p.E98*		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	98	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				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.E98*(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						TTGGTAGCTTCATCACACTCC	0.393																																						uc003jek.2																			1	Substitution - Nonsense(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.(292-294)GAA>TAA		semaphorin 5A precursor							279.0	219.0	239.0					5																	9237981		2203	4300	6503	SO:0001587	stop_gained	9037				cell adhesion|cell-cell signaling	integral to membrane|plasma membrane		g.chr5:9237981C>A	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.292G>T	5.37:g.9237981C>A	ENSP00000371936:p.Glu98*						p.E98*	NM_003966	NP_003957	Q13591	SEM5A_HUMAN			6	1004	-			98			Sema.|Extracellular (Potential).		D3DTC6|O60408|Q1RLL9	Nonsense_Mutation	SNP	ENST00000382496.5	37	c.292G>T	CCDS3875.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	21.4|21.4	4.151082|4.151082	0.78001|0.78001	.|.	.|.	ENSG00000112902|ENSG00000112902	ENST00000382496;ENST00000513968|ENST00000514923	.|.	.|.	.|.	5.63|5.63	5.63|5.63	0.86233|0.86233	.|.	0.048886|.	0.85682|.	D|.	0.000000|.	.|.	.|.	.|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	0.41790|.	T|.	0.15|.	.|.	15.1747|15.1747	0.72901|0.72901	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|.	.|.	.|.	X|L	98|45	.|.	ENSP00000371936:E98X|.	E|X	-|-	1|2	0|2	SEMA5A|SEMA5A	9290981|9290981	1.000000|1.000000	0.71417|0.71417	0.261000|0.261000	0.24466|0.24466	0.944000|0.944000	0.59088|0.59088	4.525000|4.525000	0.60559|0.60559	2.654000|2.654000	0.90174|0.90174	0.655000|0.655000	0.94253|0.94253	GAA|TGA		PASS	0.393	SEMA5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206989.2			34	134	34	134	---	---	---	---
MARCH6	10299	broad.mit.edu	37	5	10405729	10405729	+	Silent	SNP	A	A	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr5:10405729A>T	ENST00000274140.5	+	16	1524	c.1392A>T	c.(1390-1392)ccA>ccT	p.P464P	MARCH6_ENST00000449913.2_Silent_p.P416P|MARCH6_ENST00000510792.1_Silent_p.P162P|MARCH6_ENST00000503788.1_Silent_p.P359P	NM_005885.3	NP_005876.2	O60337	MARH6_HUMAN	membrane-associated ring finger (C3HC4) 6, E3 ubiquitin protein ligase	464					protein K48-linked ubiquitination (GO:0070936)	integral component of endoplasmic reticulum membrane (GO:0030176)|membrane (GO:0016020)	enzyme binding (GO:0019899)|ligase activity (GO:0016874)|ubiquitin conjugating enzyme binding (GO:0031624)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.P464P(1)		breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(35)|ovary(1)|urinary_tract(3)	54						ATTTCAATCCAGTACAGGAAA	0.323																																						uc003jet.1																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|breast(1)	2						c.(1390-1392)CCA>CCT		membrane-associated ring finger (C3HC4) 6							103.0	105.0	104.0					5																	10405729		2203	4299	6502	SO:0001819	synonymous_variant	10299				protein K48-linked ubiquitination	integral to endoplasmic reticulum membrane	ubiquitin conjugating enzyme binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr5:10405729A>T	AB011169	CCDS34135.1, CCDS59487.1, CCDS59488.1	5p15.2	2013-01-09	2012-02-23		ENSG00000145495	ENSG00000145495		"""MARCH membrane-associated ring fingers"", ""RING-type (C3HC4) zinc fingers"""	30550	protein-coding gene	gene with protein product		613297	"""membrane-associated ring finger (C3HC4) 6"""			14722266	Standard	NM_001270660		Approved	TEB4, MARCH-VI, RNF176	uc003jet.2	O60337	OTTHUMG00000162027	ENST00000274140.5:c.1392A>T	5.37:g.10405729A>T						MARCH6_uc011cmu.1_Silent_p.P416P|MARCH6_uc003jeu.1_Silent_p.P162P|MARCH6_uc011cmv.1_Silent_p.P359P	p.P464P	NM_005885	NP_005876	O60337	MARH6_HUMAN			16	1575	+			464			Cytoplasmic (Potential).		A5PKZ4|B4DKJ2|B4DT33|D3DTC8|O14670|Q86X77	Silent	SNP	ENST00000274140.5	37	c.1392A>T	CCDS34135.1																																																																																				PASS	0.323	MARCH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366919.2	NM_005885		58	122	58	122	---	---	---	---
ROPN1L	83853	broad.mit.edu	37	5	10464985	10464986	+	Missense_Mutation	DNP	GG	GG	TT			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr5:10464985_10464986GG>TT	ENST00000503804.1	+	6	1140_1141	c.619_620GG>TT	c.(619-621)GGt>TTt	p.G207F	ROPN1L_ENST00000510520.1_Intron|ROPN1L_ENST00000274134.4_Missense_Mutation_p.G207F			Q96C74	ROP1L_HUMAN	rhophilin associated tail protein 1-like	207					epithelial cilium movement (GO:0003351)|regulation of protein phosphorylation (GO:0001932)|sperm capacitation (GO:0048240)|sperm motility (GO:0030317)	cytoplasm (GO:0005737)|motile cilium (GO:0031514)		p.G207C(1)|p.G207V(1)|p.G207F(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|ovary(1)	14						CGGCATGATAGGTCTTTCAGAT	0.312																																						uc003jex.3																			3	Substitution - Missense(3)		lung(3)	ovary(1)	1						c.(619-621)GGT>TGT|c.(619-621)GGT>GTT		ropporin 1-like																																				SO:0001583	missense	83853				ciliary or flagellar motility|signal transduction	cytoplasm|motile cilium	cAMP-dependent protein kinase regulator activity|protein binding	g.chr5:10464985G>T|g.chr5:10464986G>T	AF239723	CCDS3879.1	5p15	2011-01-20	2011-01-20		ENSG00000145491	ENSG00000145491			24060	protein-coding gene	gene with protein product	"""radial spoke head 11 homolog (Chlamydomonas)"""	611756	"""ropporin 1-like"""			11278869	Standard	NM_031916		Approved	ASP, FLJ25776, RSPH11	uc021xwo.1	Q96C74	OTTHUMG00000090507	Exception_encountered	5.37:g.10464985_10464986delinsTT	ENSP00000421405:p.Gly207Phe						p.G207C|p.G207V	NM_031916	NP_114122	Q96C74	ROP1L_HUMAN			5	890|891	+			207					D3DTC9|Q9BZX0	Missense_Mutation	SNP	ENST00000503804.1	37	c.619G>T|c.620G>T	CCDS3879.1																																																																																				PASS	0.312	ROPN1L-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367033.1	NM_031916		43|40	137|138	40	137	---	---	---	---
DNAH5	1767	broad.mit.edu	37	5	13770872	13770872	+	Silent	SNP	C	C	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr5:13770872C>A	ENST00000265104.4	-	56	9695	c.9591G>T	c.(9589-9591)cgG>cgT	p.R3197R	DNAH5_ENST00000504001.3_5'UTR	NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	3197	Stalk. {ECO:0000250}.				cilium movement (GO:0003341)|lateral ventricle development (GO:0021670)|left/right axis specification (GO:0070986)	axonemal dynein complex (GO:0005858)|axoneme (GO:0005930)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.R3197R(2)		NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					TGGCCAGGGTCCGCACCTCCA	0.463									Kartagener syndrome																													uc003jfd.2																			2	Substitution - coding silent(2)	p.R3197W(1)|p.R3197Q(1)	lung(1)|skin(1)	ovary(14)|skin(13)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)|pancreas(1)	31						c.(9589-9591)CGG>CGT		dynein, axonemal, heavy chain 5							83.0	78.0	80.0					5																	13770872		2203	4300	6503	SO:0001819	synonymous_variant	1767	Kartagener_syndrome	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr5:13770872C>A	AJ132090	CCDS3882.1	5p15.2	2008-07-18	2006-09-04		ENSG00000039139	ENSG00000039139		"""Axonemal dyneins"""	2950	protein-coding gene	gene with protein product	"""dynein heavy chain 5"""	603335	"""dynein, axonemal, heavy polypeptide 5"""			9256245, 11788826	Standard	NM_001369		Approved	Dnahc5, HL1, PCD, CILD3, KTGNR	uc003jfd.2	Q8TE73	OTTHUMG00000090533	ENST00000265104.4:c.9591G>T	5.37:g.13770872C>A						DNAH5_uc003jfc.2_5'Flank	p.R3197R	NM_001369	NP_001360	Q8TE73	DYH5_HUMAN			56	9633	-	Lung NSC(4;0.00476)		3197			Stalk (By similarity).|Potential.		Q92860|Q96L74|Q9H5S7|Q9HCG9	Silent	SNP	ENST00000265104.4	37	c.9591G>T	CCDS3882.1																																																																																				PASS	0.463	DNAH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207057.2	NM_001369		38	51	38	51	---	---	---	---
FBXL7	23194	broad.mit.edu	37	5	15928149	15928149	+	Missense_Mutation	SNP	C	C	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr5:15928149C>A	ENST00000504595.1	+	3	759	c.278C>A	c.(277-279)cCg>cAg	p.P93Q	FBXL7_ENST00000510662.1_Missense_Mutation_p.P46Q|FBXL7_ENST00000329673.7_Missense_Mutation_p.P81Q	NM_001278317.1|NM_012304.3	NP_001265246.1|NP_036436.1	Q9UJT9	FBXL7_HUMAN	F-box and leucine-rich repeat protein 7	93					cell proliferation (GO:0008283)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic nuclear division (GO:0007067)|protein ubiquitination (GO:0016567)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)|ubiquitin-dependent protein catabolic process (GO:0006511)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|SCF ubiquitin ligase complex (GO:0019005)|ubiquitin ligase complex (GO:0000151)	ubiquitin-protein transferase activity (GO:0004842)	p.P93Q(1)		cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(13)|lung(33)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	60						TCCCCGCCCCCGACCCGCCTC	0.652																																						uc003jfn.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)|lung(1)	3						c.(277-279)CCG>CAG		F-box and leucine-rich repeat protein 7							26.0	34.0	31.0					5																	15928149		2043	4174	6217	SO:0001583	missense	23194				ubiquitin-dependent protein catabolic process	ubiquitin ligase complex	protein binding|ubiquitin-protein ligase activity	g.chr5:15928149C>A	AB020647	CCDS54833.1, CCDS64129.1	5p15.1	2011-06-09				ENSG00000183580		"""F-boxes / Leucine-rich repeats"""	13604	protein-coding gene	gene with protein product		605656				10048485, 10531035	Standard	NM_012304		Approved	KIAA0840, FBL7, FBL6	uc003jfn.1	Q9UJT9		ENST00000504595.1:c.278C>A	5.37:g.15928149C>A	ENSP00000423630:p.Pro93Gln						p.P93Q	NM_012304	NP_036436	Q9UJT9	FBXL7_HUMAN			3	759	+			93					B9EGF1|D6RDY7|O94926	Missense_Mutation	SNP	ENST00000504595.1	37	c.278C>A	CCDS54833.1	.	.	.	.	.	.	.	.	.	.	C	17.73	3.462051	0.63513	.	.	ENSG00000183580	ENST00000504595;ENST00000510662;ENST00000329673	T;T;T	0.11063	2.81;2.85;2.81	5.52	5.52	0.82312	.	0.139717	0.51477	D	0.000098	T	0.16811	0.0404	N	0.14661	0.345	0.47094	D	0.999319	D	0.64830	0.994	P	0.59424	0.857	T	0.10177	-1.0641	10	0.36615	T	0.2	.	19.4375	0.94801	0.0:1.0:0.0:0.0	.	93	Q9UJT9	FBXL7_HUMAN	Q	93;46;81	ENSP00000423630:P93Q;ENSP00000425184:P46Q;ENSP00000329632:P81Q	ENSP00000329632:P81Q	P	+	2	0	FBXL7	15981149	1.000000	0.71417	0.998000	0.56505	0.997000	0.91878	7.589000	0.82641	2.610000	0.88304	0.563000	0.77884	CCG		PASS	0.652	FBXL7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366117.1	NM_012304		11	29	11	29	---	---	---	---
MARCH11	441061	broad.mit.edu	37	5	16067764	16067764	+	Missense_Mutation	SNP	C	C	G			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr5:16067764C>G	ENST00000332432.8	-	4	1224	c.1025G>C	c.(1024-1026)aGg>aCg	p.R342T		NM_001102562.1	NP_001096032.1	A6NNE9	MARHB_HUMAN	membrane-associated ring finger (C3HC4) 11	342					protein ubiquitination (GO:0016567)	cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)	p.R342T(1)		NS(1)|central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(14)|urinary_tract(1)	20						CCACAAAGTCCTACTTGTGGA	0.478																																						uc003jfo.2																			1	Substitution - Missense(1)		lung(1)		0						c.(1024-1026)AGG>ACG		membrane-associated ring finger (C3HC4) 11							104.0	102.0	103.0					5																	16067764		1932	4137	6069	SO:0001583	missense	441061					cytoplasmic vesicle membrane|integral to membrane	ligase activity|zinc ion binding	g.chr5:16067764C>G	BC150513	CCDS47192.1	5p15.1	2013-01-09			ENSG00000183654	ENSG00000183654		"""RING-type (C3HC4) zinc fingers"", ""MARCH membrane-associated ring fingers"""	33609	protein-coding gene	gene with protein product		613338				17604280	Standard	NM_001102562		Approved	MARCH-XI	uc003jfo.2	A6NNE9	OTTHUMG00000161789	ENST00000332432.8:c.1025G>C	5.37:g.16067764C>G	ENSP00000333181:p.Arg342Thr					MARCH11_uc010itw.1_Missense_Mutation_p.R98T	p.R342T	NM_001102562	NP_001096032	A6NNE9	MARHB_HUMAN			4	1238	-			342					A7E2S6	Missense_Mutation	SNP	ENST00000332432.8	37	c.1025G>C	CCDS47192.1	.	.	.	.	.	.	.	.	.	.	C	19.55	3.849146	0.71603	.	.	ENSG00000183654	ENST00000332432	T	0.25085	1.82	5.43	5.43	0.79202	.	0.000000	0.49916	D	0.000128	T	0.23249	0.0562	L	0.29908	0.895	0.58432	D	0.999999	B	0.24823	0.112	B	0.27715	0.082	T	0.03795	-1.1003	10	0.22706	T	0.39	-29.9382	19.6057	0.95580	0.0:1.0:0.0:0.0	.	342	A6NNE9	MARHB_HUMAN	T	342	ENSP00000333181:R342T	ENSP00000333181:R342T	R	-	2	0	MARCH11	16120764	1.000000	0.71417	1.000000	0.80357	0.953000	0.61014	4.928000	0.63447	2.693000	0.91896	0.650000	0.86243	AGG		PASS	0.478	MARCH11-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000366096.2	NM_001102562		23	117	23	117	---	---	---	---
ZNF622	90441	broad.mit.edu	37	5	16465451	16465451	+	Missense_Mutation	SNP	C	C	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr5:16465451C>A	ENST00000308683.2	-	1	450	c.324G>T	c.(322-324)atG>atT	p.M108I		NM_033414.2	NP_219482.1	Q969S3	ZN622_HUMAN	zinc finger protein 622	108					intrinsic apoptotic signaling pathway in response to oxidative stress (GO:0008631)|positive regulation of apoptotic process (GO:0043065)|positive regulation of JNK cascade (GO:0046330)|positive regulation of kinase activity (GO:0033674)|positive regulation of MAPK cascade (GO:0043410)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)	p.M108I(1)		endometrium(2)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|prostate(2)|urinary_tract(1)	25						TTTCATTCATCATCTCCACTT	0.557																																						uc003jfq.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(322-324)ATG>ATT		zinc finger protein 622							165.0	150.0	155.0					5																	16465451		2203	4300	6503	SO:0001583	missense	90441					cytoplasm|nucleus	nucleic acid binding|zinc ion binding	g.chr5:16465451C>A	AY046059	CCDS3886.1	5p15.1	2012-10-05			ENSG00000173545	ENSG00000173545			30958	protein-coding gene	gene with protein product		608694				11802789, 12645566	Standard	NM_033414		Approved	MGC2485, MGC17552, ZPR9	uc003jfq.3	Q969S3	OTTHUMG00000090567	ENST00000308683.2:c.324G>T	5.37:g.16465451C>A	ENSP00000310042:p.Met108Ile						p.M108I	NM_033414	NP_219482	Q969S3	ZN622_HUMAN			1	444	-			108						Missense_Mutation	SNP	ENST00000308683.2	37	c.324G>T	CCDS3886.1	.	.	.	.	.	.	.	.	.	.	C	8.004	0.756104	0.15846	.	.	ENSG00000173545	ENST00000308683	.	.	.	4.81	1.98	0.26296	.	0.631229	0.17458	N	0.173535	T	0.25754	0.0627	L	0.28740	0.885	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.16600	-1.0397	9	0.26408	T	0.33	-12.6038	5.5995	0.17345	0.0:0.305:0.462:0.233	.	108	Q969S3	ZN622_HUMAN	I	108	.	ENSP00000310042:M108I	M	-	3	0	ZNF622	16518451	0.001000	0.12720	0.174000	0.22961	0.997000	0.91878	0.390000	0.20768	0.212000	0.20703	0.650000	0.86243	ATG		PASS	0.557	ZNF622-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207105.1	NM_033414		94	176	94	176	---	---	---	---
CDH18	1016	broad.mit.edu	37	5	19571932	19571932	+	Missense_Mutation	SNP	A	A	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr5:19571932A>T	ENST00000507958.1	-	10	1999	c.1009T>A	c.(1009-1011)Tat>Aat	p.Y337N	CDH18_ENST00000382275.1_Missense_Mutation_p.Y337N|CDH18_ENST00000502796.1_Missense_Mutation_p.Y337N|CDH18_ENST00000506372.1_Missense_Mutation_p.Y337N|CDH18_ENST00000511273.1_Missense_Mutation_p.Y337N|CDH18_ENST00000274170.4_Missense_Mutation_p.Y337N			Q13634	CAD18_HUMAN	cadherin 18, type 2	337	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.Y337N(2)		breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(24)|lung(76)|ovary(5)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)	138	Lung NSC(1;0.00734)|all_lung(1;0.0197)					TTTTTCTCATAGTTCAGTGGC	0.303																																						uc003jgc.2																			2	Substitution - Missense(2)		lung(2)	ovary(5)|large_intestine(1)|skin(1)	7						c.(1009-1011)TAT>AAT		cadherin 18, type 2 preproprotein							58.0	61.0	60.0					5																	19571932		2203	4300	6503	SO:0001583	missense	1016				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:19571932A>T	U59325	CCDS3889.1, CCDS54835.1, CCDS75229.1	5p14.3	2010-01-26			ENSG00000145526	ENSG00000145526		"""Cadherins / Major cadherins"""	1757	protein-coding gene	gene with protein product		603019				9030594, 10191097	Standard	NM_004934		Approved	CDH14, EY-CADHERIN	uc003jgd.3	Q13634	OTTHUMG00000090578	ENST00000507958.1:c.1009T>A	5.37:g.19571932A>T	ENSP00000425093:p.Tyr337Asn					CDH18_uc003jgd.2_Missense_Mutation_p.Y337N|CDH18_uc011cnm.1_Missense_Mutation_p.Y337N	p.Y337N	NM_004934	NP_004925	Q13634	CAD18_HUMAN			7	1386	-	Lung NSC(1;0.00734)|all_lung(1;0.0197)		337			Extracellular (Potential).|Cadherin 3.		A8K0I2|B4DHG6|Q8N5Z2	Missense_Mutation	SNP	ENST00000507958.1	37	c.1009T>A	CCDS3889.1	.	.	.	.	.	.	.	.	.	.	A	21.8	4.205244	0.79127	.	.	ENSG00000145526	ENST00000382275;ENST00000507958;ENST00000542864;ENST00000274170;ENST00000506372;ENST00000502796;ENST00000515257;ENST00000511273	T;T;T;T;T;T;T	0.54479	0.57;0.57;0.57;0.57;0.57;0.57;0.57	5.17	5.17	0.71159	Cadherin (5);Cadherin-like (1);	0.060419	0.64402	D	0.000002	T	0.76111	0.3942	M	0.90759	3.145	0.54753	D	0.999987	D;D	0.64830	0.994;0.979	D;P	0.69142	0.962;0.864	T	0.81529	-0.0891	9	.	.	.	.	14.131	0.65253	1.0:0.0:0.0:0.0	.	337;337	B4DHG6;Q13634	.;CAD18_HUMAN	N	337;337;337;337;337;337;283;337	ENSP00000371710:Y337N;ENSP00000425093:Y337N;ENSP00000274170:Y337N;ENSP00000424931:Y337N;ENSP00000422138:Y337N;ENSP00000427383:Y283N;ENSP00000425854:Y337N	.	Y	-	1	0	CDH18	19607689	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.808000	0.91939	2.095000	0.63458	0.533000	0.62120	TAT		PASS	0.303	CDH18-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366747.1	NM_004934		28	102	28	102	---	---	---	---
CDH18	1016	broad.mit.edu	37	5	19721511	19721511	+	Silent	SNP	C	C	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr5:19721511C>A	ENST00000507958.1	-	7	1578	c.588G>T	c.(586-588)cgG>cgT	p.R196R	CDH18_ENST00000382275.1_Silent_p.R196R|CDH18_ENST00000502796.1_Silent_p.R196R|CDH18_ENST00000506372.1_Silent_p.R196R|CDH18_ENST00000511273.1_Silent_p.R196R|CDH18_ENST00000274170.4_Silent_p.R196R			Q13634	CAD18_HUMAN	cadherin 18, type 2	196	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.R196R(2)		breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(24)|lung(76)|ovary(5)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)	138	Lung NSC(1;0.00734)|all_lung(1;0.0197)					TGTAAACCACCCGAGCGCTGT	0.463																																						uc003jgc.2																			2	Substitution - coding silent(2)		lung(2)	ovary(5)|large_intestine(1)|skin(1)	7						c.(586-588)CGG>CGT		cadherin 18, type 2 preproprotein							158.0	140.0	146.0					5																	19721511		2203	4300	6503	SO:0001819	synonymous_variant	1016				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:19721511C>A	U59325	CCDS3889.1, CCDS54835.1, CCDS75229.1	5p14.3	2010-01-26			ENSG00000145526	ENSG00000145526		"""Cadherins / Major cadherins"""	1757	protein-coding gene	gene with protein product		603019				9030594, 10191097	Standard	NM_004934		Approved	CDH14, EY-CADHERIN	uc003jgd.3	Q13634	OTTHUMG00000090578	ENST00000507958.1:c.588G>T	5.37:g.19721511C>A						CDH18_uc003jgd.2_Silent_p.R196R|CDH18_uc011cnm.1_Silent_p.R196R	p.R196R	NM_004934	NP_004925	Q13634	CAD18_HUMAN			4	965	-	Lung NSC(1;0.00734)|all_lung(1;0.0197)		196			Extracellular (Potential).|Cadherin 2.		A8K0I2|B4DHG6|Q8N5Z2	Silent	SNP	ENST00000507958.1	37	c.588G>T	CCDS3889.1																																																																																				PASS	0.463	CDH18-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366747.1	NM_004934		53	162	53	162	---	---	---	---
CDH18	1016	broad.mit.edu	37	5	19721517	19721517	+	Missense_Mutation	SNP	G	G	T	rs147239335	byFrequency	TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr5:19721517G>T	ENST00000507958.1	-	7	1572	c.582C>A	c.(580-582)agC>agA	p.S194R	CDH18_ENST00000382275.1_Missense_Mutation_p.S194R|CDH18_ENST00000502796.1_Missense_Mutation_p.S194R|CDH18_ENST00000506372.1_Missense_Mutation_p.S194R|CDH18_ENST00000511273.1_Missense_Mutation_p.S194R|CDH18_ENST00000274170.4_Missense_Mutation_p.S194R			Q13634	CAD18_HUMAN	cadherin 18, type 2	194	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.S194R(2)		breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(24)|lung(76)|ovary(5)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)	138	Lung NSC(1;0.00734)|all_lung(1;0.0197)					CCACCCGAGCGCTGTTTCCAT	0.463																																						uc003jgc.2																			2	Substitution - Missense(2)		lung(2)	ovary(5)|large_intestine(1)|skin(1)	7						c.(580-582)AGC>AGA		cadherin 18, type 2 preproprotein							151.0	135.0	140.0					5																	19721517		2203	4300	6503	SO:0001583	missense	1016				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:19721517G>T	U59325	CCDS3889.1, CCDS54835.1, CCDS75229.1	5p14.3	2010-01-26			ENSG00000145526	ENSG00000145526		"""Cadherins / Major cadherins"""	1757	protein-coding gene	gene with protein product		603019				9030594, 10191097	Standard	NM_004934		Approved	CDH14, EY-CADHERIN	uc003jgd.3	Q13634	OTTHUMG00000090578	ENST00000507958.1:c.582C>A	5.37:g.19721517G>T	ENSP00000425093:p.Ser194Arg					CDH18_uc003jgd.2_Missense_Mutation_p.S194R|CDH18_uc011cnm.1_Missense_Mutation_p.S194R	p.S194R	NM_004934	NP_004925	Q13634	CAD18_HUMAN			4	959	-	Lung NSC(1;0.00734)|all_lung(1;0.0197)		194			Extracellular (Potential).|Cadherin 2.		A8K0I2|B4DHG6|Q8N5Z2	Missense_Mutation	SNP	ENST00000507958.1	37	c.582C>A	CCDS3889.1	.	.	.	.	.	.	.	.	.	.	G	18.69	3.678742	0.68042	.	.	ENSG00000145526	ENST00000382275;ENST00000507958;ENST00000542864;ENST00000274170;ENST00000506372;ENST00000502796;ENST00000515257;ENST00000511273	T;T;T;T;T;T;T	0.51071	0.72;0.72;0.72;0.72;0.72;0.72;0.72	5.5	-3.96	0.04106	Cadherin (4);Cadherin-like (1);	0.000000	0.85682	D	0.000000	T	0.54224	0.1845	L	0.47716	1.5	0.45452	D	0.998423	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	T	0.50742	-0.8792	9	.	.	.	.	12.7904	0.57530	0.5133:0.0:0.4867:0.0	.	194;194	B4DHG6;Q13634	.;CAD18_HUMAN	R	194;194;194;194;194;194;140;194	ENSP00000371710:S194R;ENSP00000425093:S194R;ENSP00000274170:S194R;ENSP00000424931:S194R;ENSP00000422138:S194R;ENSP00000427383:S140R;ENSP00000425854:S194R	.	S	-	3	2	CDH18	19757274	0.995000	0.38212	0.811000	0.32455	0.886000	0.51366	0.596000	0.24044	-1.249000	0.02500	-1.761000	0.00669	AGC		PASS	0.463	CDH18-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366747.1	NM_004934		32	183	32	183	---	---	---	---
CDH12	1010	broad.mit.edu	37	5	22078722	22078722	+	Missense_Mutation	SNP	G	G	C			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr5:22078722G>C	ENST00000382254.1	-	5	1150	c.64C>G	c.(64-66)Cca>Gca	p.P22A	CDH12_ENST00000522262.1_Missense_Mutation_p.P22A|CDH12_ENST00000504376.2_Missense_Mutation_p.P22A	NM_004061.3	NP_004052.2	P55289	CAD12_HUMAN	cadherin 12, type 2 (N-cadherin 2)	22					adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.P22A(1)		NS(2)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(19)|lung(75)|ovary(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	120						GGTTGTAGTGGTGTTAGGAGA	0.458										HNSCC(59;0.17)																												uc010iuc.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(64-66)CCA>GCA		cadherin 12, type 2 preproprotein							177.0	178.0	177.0					5																	22078722		2203	4300	6503	SO:0001583	missense	1010				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:22078722G>C	L33477	CCDS3890.1	5p14.3	2010-01-26			ENSG00000154162	ENSG00000154162		"""Cadherins / Major cadherins"""	1751	protein-coding gene	gene with protein product		600562				7731968	Standard	NM_004061		Approved	Br-cadherin, CDHB	uc003jgk.2	P55289	OTTHUMG00000090591	ENST00000382254.1:c.64C>G	5.37:g.22078722G>C	ENSP00000371689:p.Pro22Ala	HNSCC(59;0.17)				CDH12_uc011cno.1_Missense_Mutation_p.P22A|CDH12_uc003jgk.2_Missense_Mutation_p.P22A	p.P22A	NM_004061	NP_004052	P55289	CAD12_HUMAN			2	522	-			22					B2RBT1|B7Z2U6|Q86UD2	Missense_Mutation	SNP	ENST00000382254.1	37	c.64C>G	CCDS3890.1	.	.	.	.	.	.	.	.	.	.	G	13.04	2.118578	0.37436	.	.	ENSG00000154162	ENST00000504376;ENST00000382254;ENST00000522262	T;T;T	0.55413	0.6;0.6;0.52	5.67	5.67	0.87782	.	0.167787	0.53938	D	0.000049	T	0.28797	0.0714	N	0.08118	0	0.34491	D	0.704953	B;B	0.25667	0.131;0.131	B;B	0.22386	0.039;0.039	T	0.31138	-0.9954	10	0.06757	T	0.87	.	13.0309	0.58840	0.0733:0.0:0.9267:0.0	.	22;22	B7Z2U6;P55289	.;CAD12_HUMAN	A	22	ENSP00000423577:P22A;ENSP00000371689:P22A;ENSP00000428786:P22A	ENSP00000371689:P22A	P	-	1	0	CDH12	22114479	1.000000	0.71417	1.000000	0.80357	0.914000	0.54420	5.759000	0.68785	2.694000	0.91930	0.555000	0.69702	CCA		PASS	0.458	CDH12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207139.1	NM_004061		66	206	66	206	---	---	---	---
PRDM9	56979	broad.mit.edu	37	5	23509607	23509607	+	Missense_Mutation	SNP	T	T	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr5:23509607T>A	ENST00000296682.3	+	3	280	c.98T>A	c.(97-99)aTa>aAa	p.I33K		NM_020227.2	NP_064612.2	Q9NQV7	PRDM9_HUMAN	PR domain containing 9	33	KRAB-related. {ECO:0000255|PROSITE- ProRule:PRU00120}.				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.I33K(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						GACATTTCCATATACTTCACC	0.413										HNSCC(3;0.000094)																												uc003jgo.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|large_intestine(2)|pancreas(1)	6						c.(97-99)ATA>AAA		PR domain containing 9							200.0	188.0	192.0					5																	23509607		1863	4116	5979	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.chr5:23509607T>A	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.98T>A	5.37:g.23509607T>A	ENSP00000296682:p.Ile33Lys	HNSCC(3;0.000094)					p.I33K	NM_020227	NP_064612	Q9NQV7	PRDM9_HUMAN			3	280	+			33			KRAB-related.		B4DX22|Q27Q50	Missense_Mutation	SNP	ENST00000296682.3	37	c.98T>A	CCDS43307.1	.	.	.	.	.	.	.	.	.	.	T	11.95	1.791303	0.31685	.	.	ENSG00000164256	ENST00000502755;ENST00000296682	T;T	0.01981	4.52;4.52	2.76	1.53	0.23141	Krueppel-associated box-related (1);Krueppel-associated box (3);	.	.	.	.	T	0.03783	0.0107	L	0.53671	1.685	0.35466	D	0.796895	P	0.44946	0.846	P	0.46718	0.525	T	0.47749	-0.9093	9	0.87932	D	0	-0.9164	5.0453	0.14480	0.2651:0.0:0.0:0.7348	.	33	Q9NQV7	PRDM9_HUMAN	K	33	ENSP00000425471:I33K;ENSP00000296682:I33K	ENSP00000296682:I33K	I	+	2	0	PRDM9	23545364	0.017000	0.18338	0.959000	0.39883	0.899000	0.52679	-0.193000	0.09573	0.430000	0.26230	-0.410000	0.06199	ATA		PASS	0.413	PRDM9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366375.1	NM_020227		106	253	106	253	---	---	---	---
PRDM9	56979	broad.mit.edu	37	5	23522877	23522877	+	Missense_Mutation	SNP	G	G	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr5:23522877G>T	ENST00000296682.3	+	8	947	c.765G>T	c.(763-765)caG>caT	p.Q255H		NM_020227.2	NP_064612.2	Q9NQV7	PRDM9_HUMAN	PR domain containing 9	255	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.Q255H(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						GCATCCCTCAGGCTGGGCTTG	0.567										HNSCC(3;0.000094)																												uc003jgo.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|large_intestine(2)|pancreas(1)	6						c.(763-765)CAG>CAT		PR domain containing 9							60.0	58.0	59.0					5																	23522877		2203	4300	6503	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.chr5:23522877G>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.765G>T	5.37:g.23522877G>T	ENSP00000296682:p.Gln255His	HNSCC(3;0.000094)					p.Q255H	NM_020227	NP_064612	Q9NQV7	PRDM9_HUMAN			8	947	+			255			SET.		B4DX22|Q27Q50	Missense_Mutation	SNP	ENST00000296682.3	37	c.765G>T	CCDS43307.1	.	.	.	.	.	.	.	.	.	.	G	13.80	2.344648	0.41498	.	.	ENSG00000164256	ENST00000296682;ENST00000253473	T	0.49432	0.78	4.14	-1.03	0.10102	SET domain (1);	0.220893	0.22891	N	0.054393	T	0.27063	0.0663	N	0.17082	0.46	0.23215	N	0.998109	P	0.52316	0.952	P	0.45881	0.496	T	0.17107	-1.0380	10	0.42905	T	0.14	-16.2204	2.8472	0.05547	0.3661:0.0:0.385:0.2489	.	255	Q9NQV7	PRDM9_HUMAN	H	255;49	ENSP00000296682:Q255H	ENSP00000253473:Q49H	Q	+	3	2	PRDM9	23558634	0.004000	0.15560	0.998000	0.56505	0.938000	0.57974	-0.444000	0.06854	0.012000	0.14892	0.597000	0.82753	CAG		PASS	0.567	PRDM9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366375.1	NM_020227		16	96	16	96	---	---	---	---
PRDM9	56979	broad.mit.edu	37	5	23526523	23526523	+	Silent	SNP	A	A	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr5:23526523A>T	ENST00000296682.3	+	11	1508	c.1326A>T	c.(1324-1326)ccA>ccT	p.P442P		NM_020227.2	NP_064612.2	Q9NQV7	PRDM9_HUMAN	PR domain containing 9	442					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.P442P(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						AGCAATATCCAGATCCACACA	0.478										HNSCC(3;0.000094)																												uc003jgo.2																			1	Substitution - coding silent(1)		lung(1)	ovary(3)|large_intestine(2)|pancreas(1)	6						c.(1324-1326)CCA>CCT		PR domain containing 9							74.0	73.0	73.0					5																	23526523		2203	4300	6503	SO:0001819	synonymous_variant	56979				meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleoplasm	histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding	g.chr5:23526523A>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.1326A>T	5.37:g.23526523A>T		HNSCC(3;0.000094)					p.P442P	NM_020227	NP_064612	Q9NQV7	PRDM9_HUMAN			11	1508	+			442					B4DX22|Q27Q50	Silent	SNP	ENST00000296682.3	37	c.1326A>T	CCDS43307.1																																																																																				PASS	0.478	PRDM9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366375.1	NM_020227		28	71	28	71	---	---	---	---
PDZD2	23037	broad.mit.edu	37	5	32010568	32010569	+	Missense_Mutation	DNP	AG	AG	TA			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr5:32010568_32010569AG>TA	ENST00000438447.1	+	6	1775_1776	c.1387_1388AG>TA	c.(1387-1389)AGc>TAc	p.S463Y	PDZD2_ENST00000282493.3_Missense_Mutation_p.S463Y			O15018	PDZD2_HUMAN	PDZ domain containing 2	463					cell adhesion (GO:0007155)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|nucleus (GO:0005634)		p.S463Y(1)|p.S463C(1)|p.S463N(1)		NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	148						CGAAGGAACCAGCTCTTCTGTC	0.515																																						uc003jhl.2																			3	Substitution - Missense(3)		lung(3)	central_nervous_system(4)|ovary(2)|skin(2)|large_intestine(1)	9						c.(1387-1389)AGC>TGC|c.(1387-1389)AGC>AAC		PDZ domain containing 2																																				SO:0001583	missense	23037				cell adhesion	cell-cell junction|endoplasmic reticulum|extracellular region|nucleus		g.chr5:32010568A>T|g.chr5:32010569G>A	AB002298	CCDS34137.1	5p14.1	2008-02-05	2006-01-24	2006-01-24		ENSG00000133401			18486	protein-coding gene	gene with protein product		610697	"""PDZ domain containing 3"""	PDZK3		9205841	Standard	XM_005248271		Approved	KIAA0300	uc003jhm.3	O15018		Exception_encountered	5.37:g.32010568_32010569delinsTA	ENSP00000402033:p.Ser463Tyr					PDZD2_uc003jhm.2_Missense_Mutation_p.S463C|PDZD2_uc011cnx.1_Missense_Mutation_p.S289C|PDZD2_uc003jhm.2_Missense_Mutation_p.S463N|PDZD2_uc011cnx.1_Missense_Mutation_p.S289N	p.S463C|p.S463N	NM_178140	NP_835260	O15018	PDZD2_HUMAN			6	1775|1776	+			463					Q9BXD4	Missense_Mutation	SNP	ENST00000438447.1	37	c.1387A>T|c.1388G>A	CCDS34137.1																																																																																				PASS	0.515	PDZD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366608.1			33|32	77	32	77	---	---	---	---
PDZD2	23037	broad.mit.edu	37	5	32088501	32088501	+	Silent	SNP	C	C	T	rs191896210		TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr5:32088501C>T	ENST00000438447.1	+	20	5335	c.4947C>T	c.(4945-4947)gcC>gcT	p.A1649A	PDZD2_ENST00000282493.3_Silent_p.A1649A			O15018	PDZD2_HUMAN	PDZ domain containing 2	1649			A -> V (in dbSNP:rs3101873).		cell adhesion (GO:0007155)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|nucleus (GO:0005634)		p.A1649A(1)		NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	148						GTGAGAAGGCCGCCTGCTTGC	0.547													C|||	1	0.000199681	0.0008	0.0	5008	,	,		19792	0.0		0.0	False		,,,				2504	0.0					uc003jhl.2																			1	Substitution - coding silent(1)		lung(1)	central_nervous_system(4)|ovary(2)|skin(2)|large_intestine(1)	9						c.(4945-4947)GCC>GCT		PDZ domain containing 2							76.0	83.0	80.0					5																	32088501		2203	4300	6503	SO:0001819	synonymous_variant	23037				cell adhesion	cell-cell junction|endoplasmic reticulum|extracellular region|nucleus		g.chr5:32088501C>T	AB002298	CCDS34137.1	5p14.1	2008-02-05	2006-01-24	2006-01-24		ENSG00000133401			18486	protein-coding gene	gene with protein product		610697	"""PDZ domain containing 3"""	PDZK3		9205841	Standard	XM_005248271		Approved	KIAA0300	uc003jhm.3	O15018		ENST00000438447.1:c.4947C>T	5.37:g.32088501C>T						PDZD2_uc003jhm.2_Silent_p.A1649A	p.A1649A	NM_178140	NP_835260	O15018	PDZD2_HUMAN			20	5335	+			1649					Q9BXD4	Silent	SNP	ENST00000438447.1	37	c.4947C>T	CCDS34137.1																																																																																				PASS	0.547	PDZD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366608.1			7	199	7	199	---	---	---	---
NPR3	4883	broad.mit.edu	37	5	32774923	32774923	+	Missense_Mutation	SNP	A	A	G	rs373722650		TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr5:32774923A>G	ENST00000265074.8	+	4	1512	c.1169A>G	c.(1168-1170)cAg>cGg	p.Q390R	NPR3_ENST00000415167.2_Missense_Mutation_p.Q390R|NPR3_ENST00000415685.2_Missense_Mutation_p.Q174R|NPR3_ENST00000434067.2_Missense_Mutation_p.Q174R	NM_000908.3|NM_001204375.1	NP_000899.1|NP_001191304.1	P17342	ANPRC_HUMAN	natriuretic peptide receptor 3	390					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|negative regulation of adenylate cyclase activity (GO:0007194)|negative regulation of smooth muscle cell proliferation (GO:0048662)|osteoclast proliferation (GO:0002158)|pancreatic juice secretion (GO:0030157)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of urine volume (GO:0035810)|regulation of blood pressure (GO:0008217)|regulation of osteoblast proliferation (GO:0033688)|skeletal system development (GO:0001501)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	G-protein coupled peptide receptor activity (GO:0008528)|hormone binding (GO:0042562)|natriuretic peptide receptor activity (GO:0016941)|peptide hormone binding (GO:0017046)	p.Q390R(1)		autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	24					Nesiritide(DB04899)	AAAATTATACAGCAGACTTGG	0.438																																						uc003jhv.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.(1168-1170)CAG>CGG		natriuretic peptide receptor C/guanylate cyclase	Nesiritide(DB04899)	A	ARG/GLN,ARG/GLN,ARG/GLN	1,3721		0,1,1860	166.0	153.0	157.0		1169,1169,521	5.7	1.0	5		157	0,8206		0,0,4103	no	missense,missense,missense	NPR3	NM_000908.3,NM_001204375.1,NM_001204376.1	43,43,43	0,1,5963	GG,GA,AA		0.0,0.0269,0.0084	possibly-damaging,possibly-damaging,possibly-damaging	390/541,390/542,174/325	32774923	1,11927	1861	4103	5964	SO:0001583	missense	4883				osteoclast proliferation|positive regulation of urine volume|regulation of blood pressure|regulation of osteoblast proliferation|skeletal system development	integral to membrane	hormone binding|natriuretic peptide receptor activity	g.chr5:32774923A>G		CCDS47196.1, CCDS56356.1, CCDS56357.1	5p13.3	2014-03-03	2014-03-03		ENSG00000113389	ENSG00000113389			7945	protein-coding gene	gene with protein product	"""guanylate cyclase C"""	108962	"""chromosome 5 open reading frame 23"", ""atrionatriuretic peptide receptor C"", ""natriuretic peptide receptor C/guanylate cyclase C (atrionatriuretic peptide receptor C)"", ""natriuretic peptide receptor C"""	NPRC, ANPRC, C5orf23		2162522, 1979052	Standard	NM_000908		Approved	GUCY2B, FLJ14054	uc003jhv.3	P17342	OTTHUMG00000150316	ENST00000265074.8:c.1169A>G	5.37:g.32774923A>G	ENSP00000265074:p.Gln390Arg					NPR3_uc010iuo.2_Missense_Mutation_p.Q174R|NPR3_uc011cnz.1_Missense_Mutation_p.Q174R|NPR3_uc003jhu.2_Missense_Mutation_p.Q390R	p.Q390R	NM_000908	NP_000899	P17342	ANPRC_HUMAN			4	1387	+			390			Extracellular (Potential).		A2RRD1|B4DT84|E7EPG9	Missense_Mutation	SNP	ENST00000265074.8	37	c.1169A>G	CCDS56357.1	.	.	.	.	.	.	.	.	.	.	A	17.10	3.303787	0.60305	2.69E-4	0.0	ENSG00000113389	ENST00000509104;ENST00000434067;ENST00000415685;ENST00000265074;ENST00000415167	D;D;D;D;D	0.81579	-1.51;-1.51;-1.51;-1.51;-1.51	5.71	5.71	0.89125	Extracellular ligand-binding receptor (1);	0.236606	0.44097	D	0.000498	T	0.71099	0.3300	N	0.25789	0.76	0.38605	D	0.950764	B;B;B;B	0.34226	0.384;0.443;0.114;0.114	B;B;B;B	0.38755	0.166;0.281;0.046;0.046	T	0.68880	-0.5292	10	0.06757	T	0.87	-18.8956	15.9869	0.80160	1.0:0.0:0.0:0.0	.	174;174;390;390	E7EPG9;B4DT84;P17342;Q60I31	.;.;ANPRC_HUMAN;.	R	167;174;174;390;390	ENSP00000425325:Q167R;ENSP00000388408:Q174R;ENSP00000402490:Q174R;ENSP00000265074:Q390R;ENSP00000398028:Q390R	ENSP00000265074:Q390R	Q	+	2	0	NPR3	32810680	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	4.752000	0.62176	2.171000	0.68590	0.533000	0.62120	CAG		PASS	0.438	NPR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317550.3	NM_000908		72	154	72	154	---	---	---	---
ADAMTS12	81792	broad.mit.edu	37	5	33624406	33624406	+	Silent	SNP	G	G	A	rs536103509		TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr5:33624406G>A	ENST00000504830.1	-	14	2408	c.2073C>T	c.(2071-2073)tgC>tgT	p.C691C	ADAMTS12_ENST00000352040.3_Intron|ADAMTS12_ENST00000504582.1_5'UTR	NM_030955.2	NP_112217.2	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 12	691	Cys-rich.				cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|cellular response to BMP stimulus (GO:0071773)|cellular response to interleukin-1 (GO:0071347)|cellular response to tumor necrosis factor (GO:0071356)|negative regulation of cellular response to hepatocyte growth factor stimulus (GO:2001113)|negative regulation of cellular response to vascular endothelial growth factor stimulus (GO:1902548)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of hepatocyte growth factor receptor signaling pathway (GO:1902203)|proteoglycan catabolic process (GO:0030167)|proteolysis involved in cellular protein catabolic process (GO:0051603)|regulation of endothelial tube morphogenesis (GO:1901509)|regulation of inflammatory response (GO:0050727)	extracellular matrix (GO:0031012)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.C691C(1)		NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	216						GGCACACACCGCAGCGATCCT	0.507										HNSCC(64;0.19)			G|||	1	0.000199681	0.0	0.0	5008	,	,		19843	0.0		0.0	False		,,,				2504	0.001					uc003jia.1																			1	Substitution - coding silent(1)		lung(1)	ovary(4)|skin(2)|upper_aerodigestive_tract(1)|lung(1)|kidney(1)	9						c.(2071-2073)TGC>TGT		ADAM metallopeptidase with thrombospondin type 1							103.0	81.0	89.0					5																	33624406		2203	4300	6503	SO:0001819	synonymous_variant	81792				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr5:33624406G>A	AJ250725	CCDS34140.1	5q35	2008-07-18	2005-08-19		ENSG00000151388	ENSG00000151388		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	14605	protein-coding gene	gene with protein product		606184	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 12"""			11279086	Standard	NM_030955		Approved		uc003jia.1	P58397	OTTHUMG00000162088	ENST00000504830.1:c.2073C>T	5.37:g.33624406G>A		HNSCC(64;0.19)				ADAMTS12_uc010iuq.1_Intron	p.C691C	NM_030955	NP_112217	P58397	ATS12_HUMAN			14	2236	-			691			Cys-rich.		A2RRN9|A5D6V6|Q6UWL3	Silent	SNP	ENST00000504830.1	37	c.2073C>T	CCDS34140.1																																																																																				PASS	0.507	ADAMTS12-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367164.2	NM_030955		34	85	34	85	---	---	---	---
ADAMTS12	81792	broad.mit.edu	37	5	33649685	33649685	+	Silent	SNP	G	G	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr5:33649685G>A	ENST00000504830.1	-	8	1643	c.1308C>T	c.(1306-1308)agC>agT	p.S436S	ADAMTS12_ENST00000352040.3_Silent_p.S436S|ADAMTS12_ENST00000504582.1_5'UTR	NM_030955.2	NP_112217.2	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 12	436	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.				cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|cellular response to BMP stimulus (GO:0071773)|cellular response to interleukin-1 (GO:0071347)|cellular response to tumor necrosis factor (GO:0071356)|negative regulation of cellular response to hepatocyte growth factor stimulus (GO:2001113)|negative regulation of cellular response to vascular endothelial growth factor stimulus (GO:1902548)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of hepatocyte growth factor receptor signaling pathway (GO:1902203)|proteoglycan catabolic process (GO:0030167)|proteolysis involved in cellular protein catabolic process (GO:0051603)|regulation of endothelial tube morphogenesis (GO:1901509)|regulation of inflammatory response (GO:0050727)	extracellular matrix (GO:0031012)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.S436S(1)		NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	216						TGTACTCCTCGCTGCACTTGG	0.517										HNSCC(64;0.19)																												uc003jia.1																			1	Substitution - coding silent(1)		lung(1)	ovary(4)|skin(2)|upper_aerodigestive_tract(1)|lung(1)|kidney(1)	9						c.(1306-1308)AGC>AGT		ADAM metallopeptidase with thrombospondin type 1							153.0	127.0	136.0					5																	33649685		2203	4300	6503	SO:0001819	synonymous_variant	81792				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr5:33649685G>A	AJ250725	CCDS34140.1	5q35	2008-07-18	2005-08-19		ENSG00000151388	ENSG00000151388		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	14605	protein-coding gene	gene with protein product		606184	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 12"""			11279086	Standard	NM_030955		Approved		uc003jia.1	P58397	OTTHUMG00000162088	ENST00000504830.1:c.1308C>T	5.37:g.33649685G>A		HNSCC(64;0.19)				ADAMTS12_uc010iuq.1_Silent_p.S436S	p.S436S	NM_030955	NP_112217	P58397	ATS12_HUMAN			8	1471	-			436			Peptidase M12B.		A2RRN9|A5D6V6|Q6UWL3	Silent	SNP	ENST00000504830.1	37	c.1308C>T	CCDS34140.1																																																																																				PASS	0.517	ADAMTS12-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367164.2	NM_030955		58	101	58	101	---	---	---	---
ADAMTS12	81792	broad.mit.edu	37	5	33881520	33881520	+	Missense_Mutation	SNP	G	G	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr5:33881520G>T	ENST00000504830.1	-	2	528	c.193C>A	c.(193-195)Cat>Aat	p.H65N	ADAMTS12_ENST00000352040.3_Missense_Mutation_p.H65N|ADAMTS12_ENST00000515401.1_Missense_Mutation_p.H65N	NM_030955.2	NP_112217.2	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 12	65					cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|cellular response to BMP stimulus (GO:0071773)|cellular response to interleukin-1 (GO:0071347)|cellular response to tumor necrosis factor (GO:0071356)|negative regulation of cellular response to hepatocyte growth factor stimulus (GO:2001113)|negative regulation of cellular response to vascular endothelial growth factor stimulus (GO:1902548)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of hepatocyte growth factor receptor signaling pathway (GO:1902203)|proteoglycan catabolic process (GO:0030167)|proteolysis involved in cellular protein catabolic process (GO:0051603)|regulation of endothelial tube morphogenesis (GO:1901509)|regulation of inflammatory response (GO:0050727)	extracellular matrix (GO:0031012)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.H65N(2)		NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	216						GACAAAAAATGCCCACTGGCA	0.488										HNSCC(64;0.19)																												uc003jia.1																			2	Substitution - Missense(2)		lung(2)	ovary(4)|skin(2)|upper_aerodigestive_tract(1)|lung(1)|kidney(1)	9						c.(193-195)CAT>AAT		ADAM metallopeptidase with thrombospondin type 1							123.0	126.0	125.0					5																	33881520		2203	4300	6503	SO:0001583	missense	81792				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr5:33881520G>T	AJ250725	CCDS34140.1	5q35	2008-07-18	2005-08-19		ENSG00000151388	ENSG00000151388		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	14605	protein-coding gene	gene with protein product		606184	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 12"""			11279086	Standard	NM_030955		Approved		uc003jia.1	P58397	OTTHUMG00000162088	ENST00000504830.1:c.193C>A	5.37:g.33881520G>T	ENSP00000422554:p.His65Asn	HNSCC(64;0.19)				ADAMTS12_uc010iuq.1_Missense_Mutation_p.H65N|ADAMTS12_uc003jib.1_Missense_Mutation_p.H65N	p.H65N	NM_030955	NP_112217	P58397	ATS12_HUMAN			2	356	-			65					A2RRN9|A5D6V6|Q6UWL3	Missense_Mutation	SNP	ENST00000504830.1	37	c.193C>A	CCDS34140.1	.	.	.	.	.	.	.	.	.	.	G	9.116	1.007849	0.19199	.	.	ENSG00000151388	ENST00000504830;ENST00000352040;ENST00000515401	T;T;T	0.05925	3.37;3.37;3.37	5.51	1.62	0.23740	Peptidase M12B, propeptide (1);	0.599494	0.17003	N	0.190852	T	0.07818	0.0196	L	0.43152	1.355	0.20074	N	0.999938	B;B;B	0.24317	0.003;0.023;0.101	B;B;B	0.35770	0.004;0.012;0.21	T	0.40720	-0.9548	10	0.23302	T	0.38	.	10.0588	0.42261	0.0:0.2325:0.4076:0.3598	.	65;65;65	P58397-3;D6REX0;P58397	.;.;ATS12_HUMAN	N	65	ENSP00000422554:H65N;ENSP00000344847:H65N;ENSP00000421638:H65N	ENSP00000344847:H65N	H	-	1	0	ADAMTS12	33917277	0.664000	0.27457	0.003000	0.11579	0.779000	0.44077	1.624000	0.37018	0.006000	0.14734	0.467000	0.42956	CAT		PASS	0.488	ADAMTS12-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367164.2	NM_030955		86	172	86	172	---	---	---	---
SPEF2	79925	broad.mit.edu	37	5	35692818	35692818	+	Missense_Mutation	SNP	G	G	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr5:35692818G>A	ENST00000356031.3	+	12	2045	c.1891G>A	c.(1891-1893)Gaa>Aaa	p.E631K	SPEF2_ENST00000440995.2_Missense_Mutation_p.E631K|CTD-2113L7.1_ENST00000510433.1_RNA|SPEF2_ENST00000509059.1_Missense_Mutation_p.E631K	NM_024867.3	NP_079143.3	Q9C093	SPEF2_HUMAN	sperm flagellar 2	631					axoneme assembly (GO:0035082)|brain morphogenesis (GO:0048854)|embryonic neurocranium morphogenesis (GO:0048702)|fertilization (GO:0009566)|immune system development (GO:0002520)|multicellular organismal aging (GO:0010259)|respiratory system development (GO:0060541)|spermatogenesis (GO:0007283)	Golgi apparatus (GO:0005794)|manchette (GO:0002177)|sperm midpiece (GO:0097225)		p.E631K(1)		breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	37	all_lung(31;7.56e-05)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			GGAGATTAAAGAAAGCCAGGC	0.388																																						uc003jjo.2																			1	Substitution - Missense(1)		lung(1)	skin(2)|ovary(1)|central_nervous_system(1)	4						c.(1891-1893)GAA>AAA		KPL2 protein isoform 1							93.0	93.0	93.0					5																	35692818		1848	4090	5938	SO:0001583	missense	79925				nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		ATP binding|nucleobase, nucleoside, nucleotide kinase activity|protein dimerization activity	g.chr5:35692818G>A	AB051557	CCDS3910.1, CCDS43309.1	5p13.2	2010-05-04			ENSG00000152582	ENSG00000152582			26293	protein-coding gene	gene with protein product	"""cancer/testis antigen 122"""	610172				11214970, 16549801, 17610085	Standard	NM_024867		Approved	KPL2, FLJ23577, CT122	uc003jjo.3	Q9C093	OTTHUMG00000131111	ENST00000356031.3:c.1891G>A	5.37:g.35692818G>A	ENSP00000348314:p.Glu631Lys					SPEF2_uc003jjq.3_Missense_Mutation_p.E631K|SPEF2_uc003jjp.1_Missense_Mutation_p.E122K	p.E631K	NM_024867	NP_079143	Q9C093	SPEF2_HUMAN	Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)		12	2002	+	all_lung(31;7.56e-05)		631					Q2TAC9|Q96LL6|Q9H5C7|Q9H5Q7	Missense_Mutation	SNP	ENST00000356031.3	37	c.1891G>A	CCDS43309.1	.	.	.	.	.	.	.	.	.	.	G	5.513	0.279641	0.10458	.	.	ENSG00000152582	ENST00000356031;ENST00000509059;ENST00000440995;ENST00000504054	T;T;T;T	0.30448	3.43;3.26;3.43;1.53	5.81	3.04	0.35103	.	1.435870	0.04331	N	0.352282	T	0.23886	0.0578	L	0.36672	1.1	0.09310	N	1	B;B;B	0.12013	0.005;0.002;0.001	B;B;B	0.08055	0.002;0.003;0.001	T	0.28106	-1.0054	10	0.07030	T	0.85	.	8.3145	0.32091	0.2422:0.0:0.7578:0.0	.	631;631;631	D6REZ4;Q9C093-2;Q9C093	.;.;SPEF2_HUMAN	K	631;631;631;142	ENSP00000348314:E631K;ENSP00000421593:E631K;ENSP00000412125:E631K;ENSP00000421744:E142K	ENSP00000348314:E631K	E	+	1	0	SPEF2	35728575	0.001000	0.12720	0.002000	0.10522	0.198000	0.23893	0.308000	0.19314	0.366000	0.24427	0.585000	0.79938	GAA		PASS	0.388	SPEF2-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367199.1	NM_144722		26	146	26	146	---	---	---	---
IL7R	3575	broad.mit.edu	37	5	35871231	35871231	+	Missense_Mutation	SNP	T	T	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr5:35871231T>A	ENST00000303115.3	+	4	582	c.453T>A	c.(451-453)aaT>aaA	p.N151K	IL7R_ENST00000506850.1_Missense_Mutation_p.N151K|IL7R_ENST00000343305.4_Missense_Mutation_p.N151K	NM_002185.3	NP_002176.2	P16871	IL7RA_HUMAN	interleukin 7 receptor	151	Fibronectin type-III. {ECO:0000255|PROSITE-ProRule:PRU00316}.				B cell proliferation (GO:0042100)|cell growth (GO:0016049)|cell morphogenesis (GO:0000902)|cell surface receptor signaling pathway (GO:0007166)|homeostasis of number of cells (GO:0048872)|immune response (GO:0006955)|immunoglobulin production (GO:0002377)|interleukin-7-mediated signaling pathway (GO:0038111)|lymph node development (GO:0048535)|negative regulation of T cell mediated cytotoxicity (GO:0001915)|positive regulation of gene expression (GO:0010628)|positive regulation of T cell differentiation in thymus (GO:0033089)|regulation of cell size (GO:0008361)|regulation of DNA recombination (GO:0000018)|signal transduction (GO:0007165)|T cell differentiation (GO:0030217)	external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	antigen binding (GO:0003823)|interleukin-7 receptor activity (GO:0004917)	p.N151K(1)		NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(78)|kidney(2)|large_intestine(6)|lung(25)|ovary(3)|pancreas(1)|skin(5)|stomach(3)	126	all_lung(31;0.00015)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.187)|Colorectal(62;0.202)			TGACATTTAATACATCACACT	0.383			"""Mis, O"""		"""ALL, ETP ALL"""		Severe combined immune deficiency																															uc003jjs.2				Dom	yes		5	5p13	146661		interleukin 7 receptor	yes		L					1	Substitution - Missense(1)		lung(1)	ovary(3)|breast(1)|skin(1)	5						c.(451-453)AAT>AAA		interleukin 7 receptor precursor							83.0	80.0	81.0					5																	35871231		2203	4300	6503	SO:0001583	missense	3575				immune response|regulation of DNA recombination	extracellular region|integral to membrane	antigen binding|interleukin-7 receptor activity	g.chr5:35871231T>A	M29696	CCDS3911.1	5p13	2014-09-17			ENSG00000168685	ENSG00000168685		"""Interleukins and interleukin receptors"", ""CD molecules"", ""Fibronectin type III domain containing"""	6024	protein-coding gene	gene with protein product		146661				2317865	Standard	NM_002185		Approved	CD127	uc003jjs.4	P16871	OTTHUMG00000090791	ENST00000303115.3:c.453T>A	5.37:g.35871231T>A	ENSP00000306157:p.Asn151Lys					IL7R_uc011coo.1_Missense_Mutation_p.N151K|IL7R_uc011cop.1_RNA	p.N151K	NM_002185	NP_002176	P16871	IL7RA_HUMAN	Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.187)|Colorectal(62;0.202)		4	542	+	all_lung(31;0.00015)		151			Extracellular (Potential).|Fibronectin type-III.		B2RCS6|B4DVT1|Q05CU8|Q6NSP4|Q6NWM0|Q6NWM1|Q6NWM2|Q6NWM3|Q6SV45|Q9UPC1	Missense_Mutation	SNP	ENST00000303115.3	37	c.453T>A	CCDS3911.1	.	.	.	.	.	.	.	.	.	.	T	20.5	3.996629	0.74818	.	.	ENSG00000168685	ENST00000303115;ENST00000343305;ENST00000506850	T;T;T	0.55234	0.53;0.53;0.53	5.56	1.92	0.25849	Fibronectin, type III (2);Immunoglobulin-like fold (1);	0.524538	0.22124	N	0.064284	T	0.56485	0.1988	M	0.64997	1.995	0.35347	D	0.787004	D;D	0.65815	0.988;0.995	P;D	0.63793	0.716;0.918	T	0.62969	-0.6741	10	0.06757	T	0.87	-8.7425	6.2813	0.21009	0.0:0.3066:0.0:0.6934	.	151;151	D6RGV2;P16871	.;IL7RA_HUMAN	K	151	ENSP00000306157:N151K;ENSP00000345819:N151K;ENSP00000421207:N151K	ENSP00000306157:N151K	N	+	3	2	IL7R	35906988	0.949000	0.32298	1.000000	0.80357	0.997000	0.91878	-0.320000	0.08028	0.396000	0.25283	0.533000	0.62120	AAT		PASS	0.383	IL7R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207577.2			45	92	45	92	---	---	---	---
GDNF	2668	broad.mit.edu	37	5	37815898	37815898	+	Missense_Mutation	SNP	G	G	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr5:37815898G>A	ENST00000326524.2	-	3	690	c.491C>T	c.(490-492)tCc>tTc	p.S164F	GDNF_ENST00000344622.4_Missense_Mutation_p.S138F|GDNF_ENST00000427982.1_Missense_Mutation_p.S181F|GDNF_ENST00000381826.4_Missense_Mutation_p.S155F|GDNF_ENST00000515058.1_Missense_Mutation_p.S138F	NM_000514.3	NP_000505.1	P39905	GDNF_HUMAN	glial cell derived neurotrophic factor	164					adult locomotory behavior (GO:0008344)|axon guidance (GO:0007411)|branching involved in ureteric bud morphogenesis (GO:0001658)|enteric nervous system development (GO:0048484)|mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0003337)|metanephros development (GO:0001656)|mRNA stabilization (GO:0048255)|negative regulation of apoptotic process (GO:0043066)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of neuron apoptotic process (GO:0043524)|nervous system development (GO:0007399)|neural crest cell migration (GO:0001755)|neuron projection development (GO:0031175)|organ induction (GO:0001759)|peristalsis (GO:0030432)|positive regulation of branching involved in ureteric bud morphogenesis (GO:0090190)|positive regulation of dopamine secretion (GO:0033603)|positive regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0072108)|positive regulation of monooxygenase activity (GO:0032770)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of ureteric bud formation (GO:0072107)|postganglionic parasympathetic nervous system development (GO:0021784)|postsynaptic membrane organization (GO:0001941)|regulation of dopamine uptake involved in synaptic transmission (GO:0051584)|regulation of morphogenesis of a branching structure (GO:0060688)|signal transduction (GO:0007165)|sympathetic nervous system development (GO:0048485)|ureteric bud formation (GO:0060676)	extracellular region (GO:0005576)	protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)	p.S181F(1)|p.S164F(1)		NS(1)|endometrium(1)|large_intestine(2)|liver(1)|lung(8)|skin(2)	15	all_lung(31;0.00118)					TCTATTTCTGGATAAGTTTTT	0.453																																						uc011cpi.1																			2	Substitution - Missense(2)		lung(2)		0						c.(490-492)TCC>TTC		glial cell derived neurotrophic factor isoform 1							116.0	114.0	115.0					5																	37815898		2203	4300	6503	SO:0001583	missense	2668				adult locomotory behavior|anti-apoptosis|axon guidance|branching involved in ureteric bud morphogenesis|enteric nervous system development|mRNA stabilization|negative regulation of neuron apoptosis|neural crest cell migration|peristalsis|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of dopamine secretion|positive regulation of monooxygenase activity|positive regulation of transcription from RNA polymerase II promoter|positive regulation of ureteric bud formation|postganglionic parasympathetic nervous system development|regulation of dopamine uptake|signal transduction|sympathetic nervous system development	extracellular region	growth factor activity|protein homodimerization activity	g.chr5:37815898G>A		CCDS3922.1, CCDS3923.1, CCDS54845.1, CCDS54846.1, CCDS75237.1	5p13.1-p12	2014-01-30			ENSG00000168621	ENSG00000168621		"""Endogenous ligands"""	4232	protein-coding gene	gene with protein product	"""astrocyte-derived trophic factor"", ""glial cell line derived neurotrophic factor"", ""glial derived neurotrophic factor"""	600837				8493557	Standard	NM_199231		Approved	ATF1, ATF2, HFB1-GDNF	uc011cpg.2	P39905	OTTHUMG00000090809	ENST00000326524.2:c.491C>T	5.37:g.37815898G>A	ENSP00000317145:p.Ser164Phe					GDNF_uc011cpc.1_Missense_Mutation_p.S86F|GDNF_uc011cpd.1_Missense_Mutation_p.S112F|GDNF_uc011cpe.1_Missense_Mutation_p.S138F|GDNF_uc011cpf.1_Missense_Mutation_p.S138F|GDNF_uc011cpg.1_Missense_Mutation_p.S181F|GDNF_uc011cph.1_Missense_Mutation_p.S155F	p.S164F	NM_000514	NP_000505	P39905	GDNF_HUMAN			3	691	-	all_lung(31;0.00118)		164					B7WPK7|O95448|O95449|O95986|Q6FH33|Q96L44|Q9UD32|Q9UD33|Q9UMV2|Q9UP67|Q9UP97	Missense_Mutation	SNP	ENST00000326524.2	37	c.491C>T	CCDS3922.1	.	.	.	.	.	.	.	.	.	.	G	19.48	3.834915	0.71373	.	.	ENSG00000168621	ENST00000326524;ENST00000344622;ENST00000515058;ENST00000427982;ENST00000381826	D;D;D;D;D	0.84442	-1.85;-1.85;-1.85;-1.85;-1.85	5.76	5.76	0.90799	Transforming growth factor-beta, C-terminal (3);	0.045787	0.85682	D	0.000000	T	0.79684	0.4488	N	0.08118	0	0.58432	D	0.999992	D;D;D;D	0.57899	0.965;0.98;0.981;0.972	P;P;P;P	0.50192	0.569;0.634;0.61;0.622	T	0.79369	-0.1832	10	0.27082	T	0.32	-5.9855	19.9576	0.97228	0.0:0.0:1.0:0.0	.	164;155;181;138	P39905;P39905-4;P39905-3;P39905-2	GDNF_HUMAN;.;.;.	F	164;138;138;181;155	ENSP00000317145:S164F;ENSP00000339703:S138F;ENSP00000425928:S138F;ENSP00000409007:S181F;ENSP00000371248:S155F	ENSP00000317145:S164F	S	-	2	0	GDNF	37851655	1.000000	0.71417	0.968000	0.41197	0.987000	0.75469	9.476000	0.97823	2.736000	0.93811	0.655000	0.94253	TCC		PASS	0.453	GDNF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207606.1	NM_000514		82	170	82	170	---	---	---	---
MROH2B	133558	broad.mit.edu	37	5	41019108	41019108	+	Silent	SNP	A	A	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr5:41019108A>T	ENST00000399564.4	-	25	2904	c.2454T>A	c.(2452-2454)ccT>ccA	p.P818P	MROH2B_ENST00000506092.2_Silent_p.P373P	NM_173489.4	NP_775760.3	Q7Z745	MRO2B_HUMAN	maestro heat-like repeat family member 2B	818								p.P818P(1)									GTGAGAGCTGAGGTTTCAGTT	0.458																																						uc003jmj.3																			1	Substitution - coding silent(1)		lung(1)	ovary(6)|central_nervous_system(2)	8						c.(2452-2454)CCT>CCA		HEAT repeat family member 7B2							73.0	71.0	72.0					5																	41019108		1944	4136	6080	SO:0001819	synonymous_variant	133558						binding	g.chr5:41019108A>T		CCDS47202.1	5p13.1	2012-12-19	2012-12-19	2012-12-19	ENSG00000171495	ENSG00000171495		"""maestro heat-like repeat containing"""	26857	protein-coding gene	gene with protein product			"""HEAT repeat family member 7B2"""	HEATR7B2		12477932	Standard	NM_173489		Approved	DKFZp781F0822, FLJ40243	uc003jmj.4	Q7Z745	OTTHUMG00000162151	ENST00000399564.4:c.2454T>A	5.37:g.41019108A>T						HEATR7B2_uc003jmi.3_Silent_p.P373P	p.P818P	NM_173489	NP_775760	Q7Z745	HTRB2_HUMAN			25	2944	-			818			HEAT 9.		Q68DM1|Q7Z4U4|Q8N7X3	Silent	SNP	ENST00000399564.4	37	c.2454T>A	CCDS47202.1																																																																																				PASS	0.458	MROH2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367558.2	NM_173489		6	66	6	66	---	---	---	---
C6	729	broad.mit.edu	37	5	41160347	41160347	+	Silent	SNP	A	A	G			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr5:41160347A>G	ENST00000263413.3	-	11	1845	c.1581T>C	c.(1579-1581)ccT>ccC	p.P527P	C6_ENST00000337836.5_Silent_p.P527P|C6_ENST00000475349.1_5'UTR	NM_001115131.1	NP_001108603.2	P13671	CO6_HUMAN	complement component 6	527	EGF-like.				complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|cytolysis (GO:0019835)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane attack complex (GO:0005579)		p.P527P(1)		central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(7)|large_intestine(16)|liver(1)|lung(51)|ovary(3)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)	96		Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157)				GGCCATTATTAGGGCATGGAG	0.483																																						uc003jmk.2																			1	Substitution - coding silent(1)		lung(1)	ovary(3)|central_nervous_system(2)|skin(2)	7						c.(1579-1581)CCT>CCC		complement component 6 precursor							214.0	191.0	199.0					5																	41160347		2203	4300	6503	SO:0001819	synonymous_variant	729				complement activation, classical pathway|cytolysis|innate immune response	membrane attack complex	protein binding	g.chr5:41160347A>G	J05024	CCDS3936.1	5p13.1	2014-09-17			ENSG00000039537	ENSG00000039537		"""Complement system"""	1339	protein-coding gene	gene with protein product		217050					Standard	NM_001115131		Approved		uc003jmk.3	P13671	OTTHUMG00000094781	ENST00000263413.3:c.1581T>C	5.37:g.41160347A>G						C6_uc003jml.1_Silent_p.P527P	p.P527P	NM_000065	NP_000056	P13671	CO6_HUMAN			11	1791	-		Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157)	527			EGF-like.			Silent	SNP	ENST00000263413.3	37	c.1581T>C	CCDS3936.1																																																																																				PASS	0.483	C6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211592.1			90	185	90	185	---	---	---	---
C6	729	broad.mit.edu	37	5	41160349	41160349	+	Missense_Mutation	SNP	G	G	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr5:41160349G>T	ENST00000263413.3	-	11	1843	c.1579C>A	c.(1579-1581)Cct>Act	p.P527T	C6_ENST00000337836.5_Missense_Mutation_p.P527T|C6_ENST00000475349.1_5'UTR	NM_001115131.1	NP_001108603.2	P13671	CO6_HUMAN	complement component 6	527	EGF-like.				complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|cytolysis (GO:0019835)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane attack complex (GO:0005579)		p.P527T(1)		central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(7)|large_intestine(16)|liver(1)|lung(51)|ovary(3)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)	96		Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157)				CCATTATTAGGGCATGGAGCA	0.493																																						uc003jmk.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|central_nervous_system(2)|skin(2)	7						c.(1579-1581)CCT>ACT		complement component 6 precursor							214.0	191.0	199.0					5																	41160349		2203	4300	6503	SO:0001583	missense	729				complement activation, classical pathway|cytolysis|innate immune response	membrane attack complex	protein binding	g.chr5:41160349G>T	J05024	CCDS3936.1	5p13.1	2014-09-17			ENSG00000039537	ENSG00000039537		"""Complement system"""	1339	protein-coding gene	gene with protein product		217050					Standard	NM_001115131		Approved		uc003jmk.3	P13671	OTTHUMG00000094781	ENST00000263413.3:c.1579C>A	5.37:g.41160349G>T	ENSP00000263413:p.Pro527Thr					C6_uc003jml.1_Missense_Mutation_p.P527T	p.P527T	NM_000065	NP_000056	P13671	CO6_HUMAN			11	1789	-		Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157)	527			EGF-like.			Missense_Mutation	SNP	ENST00000263413.3	37	c.1579C>A	CCDS3936.1	.	.	.	.	.	.	.	.	.	.	G	25.9	4.684687	0.88639	.	.	ENSG00000039537	ENST00000337836;ENST00000263413	T;T	0.61040	0.14;0.14	6.06	5.16	0.70880	.	0.000000	0.85682	D	0.000000	T	0.74876	0.3774	M	0.70595	2.14	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	T	0.73332	-0.4016	10	0.42905	T	0.14	-16.4582	17.4875	0.87692	0.0:0.1235:0.8765:0.0	.	527	P13671	CO6_HUMAN	T	527	ENSP00000338861:P527T;ENSP00000263413:P527T	ENSP00000263413:P527T	P	-	1	0	C6	41196106	1.000000	0.71417	1.000000	0.80357	0.951000	0.60555	6.375000	0.73137	2.882000	0.98803	0.655000	0.94253	CCT		PASS	0.493	C6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211592.1			87	184	87	184	---	---	---	---
C6	729	broad.mit.edu	37	5	41186221	41186221	+	Missense_Mutation	SNP	G	G	T	rs61734261	byFrequency	TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr5:41186221G>T	ENST00000263413.3	-	6	941	c.677C>A	c.(676-678)aCa>aAa	p.T226K	C6_ENST00000337836.5_Missense_Mutation_p.T226K|C6_ENST00000475349.1_Intron	NM_001115131.1	NP_001108603.2	P13671	CO6_HUMAN	complement component 6	226	MACPF. {ECO:0000255|PROSITE- ProRule:PRU00745}.				complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|cytolysis (GO:0019835)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane attack complex (GO:0005579)		p.T226K(1)		central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(7)|large_intestine(16)|liver(1)|lung(51)|ovary(3)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)	96		Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157)				TGGATTACTTGTCCTACTGCT	0.448																																						uc003jmk.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|central_nervous_system(2)|skin(2)	7						c.(676-678)ACA>AAA		complement component 6 precursor							134.0	123.0	127.0					5																	41186221		2203	4300	6503	SO:0001583	missense	729				complement activation, classical pathway|cytolysis|innate immune response	membrane attack complex	protein binding	g.chr5:41186221G>T	J05024	CCDS3936.1	5p13.1	2014-09-17			ENSG00000039537	ENSG00000039537		"""Complement system"""	1339	protein-coding gene	gene with protein product		217050					Standard	NM_001115131		Approved		uc003jmk.3	P13671	OTTHUMG00000094781	ENST00000263413.3:c.677C>A	5.37:g.41186221G>T	ENSP00000263413:p.Thr226Lys					C6_uc003jml.1_Missense_Mutation_p.T226K	p.T226K	NM_000065	NP_000056	P13671	CO6_HUMAN			6	887	-		Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157)	226			MACPF.			Missense_Mutation	SNP	ENST00000263413.3	37	c.677C>A	CCDS3936.1	.	.	.	.	.	.	.	.	.	.	G	19.76	3.888029	0.72524	.	.	ENSG00000039537	ENST00000337836;ENST00000263413	T;T	0.61742	0.08;0.08	5.98	4.09	0.47781	Membrane attack complex component/perforin (MACPF) domain (1);	0.272209	0.40818	N	0.001012	T	0.45736	0.1357	L	0.44542	1.39	0.34583	D	0.714625	P	0.41597	0.756	B	0.40101	0.319	T	0.53443	-0.8438	10	0.06891	T	0.86	-7.5103	12.9313	0.58288	0.0:0.1243:0.7464:0.1293	.	226	P13671	CO6_HUMAN	K	226	ENSP00000338861:T226K;ENSP00000263413:T226K	ENSP00000263413:T226K	T	-	2	0	C6	41221978	1.000000	0.71417	0.995000	0.50966	0.970000	0.65996	3.138000	0.50570	1.511000	0.48818	0.650000	0.86243	ACA		PASS	0.448	C6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211592.1			59	84	59	84	---	---	---	---
SEPP1	6414	broad.mit.edu	37	5	42808330	42808330	+	Missense_Mutation	SNP	C	C	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr5:42808330C>A	ENST00000514985.1	-	2	382	c.126G>T	c.(124-126)atG>atT	p.M42I	SEPP1_ENST00000507920.1_Missense_Mutation_p.M42I|SEPP1_ENST00000506577.1_Missense_Mutation_p.M42I|SEPP1_ENST00000509276.1_5'UTR|SEPP1_ENST00000511224.1_Missense_Mutation_p.M42I|CTD-2325A15.5_ENST00000606056.1_RNA	NM_005410.2	NP_005401.3	P49908	SEPP1_HUMAN	selenoprotein P, plasma, 1	42					brain development (GO:0007420)|growth (GO:0040007)|locomotory behavior (GO:0007626)|post-embryonic development (GO:0009791)|response to oxidative stress (GO:0006979)|selenium compound metabolic process (GO:0001887)|sexual reproduction (GO:0019953)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	selenium binding (GO:0008430)	p.M42I(1)		kidney(10)|large_intestine(1)|lung(4)	15						TGGAGTTTAGCATTGGATCTT	0.498																																						uc011cps.1																			1	Substitution - Missense(1)		lung(1)		0								Homo sapiens cDNA FLJ37321 fis, clone BRAMY2018122.							90.0	91.0	91.0					5																	42808330		1921	4131	6052	SO:0001583	missense	6414				response to oxidative stress	extracellular region	selenium binding	g.chr5:42808330C>A	BC040075	CCDS43311.1	5q31	2012-03-01				ENSG00000250722			10751	protein-coding gene	gene with protein product		601484				8421687	Standard	NM_001085486		Approved	SeP	uc011cpu.2	P49908		ENST00000514985.1:c.126G>T	5.37:g.42808330C>A	ENSP00000420939:p.Met42Ile					SEPP1_uc011cpt.1_RNA|SEPP1_uc011cpu.1_RNA|SEPP1_uc011cpv.1_RNA|SEPP1_uc003jna.2_RNA				P49908	SEPP1_HUMAN			3		-								Q6PD59|Q6PI43|Q6PI87|Q6PJF9	RNA	SNP	ENST00000514985.1	37	c.314G>T	CCDS43311.1	.	.	.	.	.	.	.	.	.	.	C	18.84	3.709120	0.68615	.	.	ENSG00000250722	ENST00000514985;ENST00000511224;ENST00000506577;ENST00000514218;ENST00000510965	T;T;T;T;T	0.38722	1.12;1.12;1.12;1.12;1.12	5.38	5.38	0.77491	.	0.000000	0.64402	U	0.000013	T	0.61337	0.2339	M	0.65975	2.015	0.41309	D	0.987092	.	.	.	.	.	.	T	0.64867	-0.6306	8	0.87932	D	0	.	19.1336	0.93417	0.0:1.0:0.0:0.0	.	.	.	.	I	42	ENSP00000420939:M42I;ENSP00000427671:M42I;ENSP00000425915:M42I;ENSP00000421626:M42I;ENSP00000427414:M42I	ENSP00000425915:M42I	M	-	3	0	SEPP1	42844087	1.000000	0.71417	1.000000	0.80357	0.915000	0.54546	6.463000	0.73530	2.515000	0.84797	0.650000	0.86243	ATG		PASS	0.498	SEPP1-001	KNOWN	basic|appris_principal|CCDS|seleno	protein_coding	protein_coding	OTTHUMT00000367483.1	NM_005410		16	125	16	125	---	---	---	---
NNT	23530	broad.mit.edu	37	5	43675646	43675646	+	Nonsense_Mutation	SNP	G	G	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr5:43675646G>T	ENST00000264663.5	+	18	2889	c.2668G>T	c.(2668-2670)Gga>Tga	p.G890*	NNT_ENST00000344920.4_Nonsense_Mutation_p.G890*|NNT_ENST00000512996.2_Nonsense_Mutation_p.G759*	NM_012343.3	NP_036475.3	Q13423	NNTM_HUMAN	nicotinamide nucleotide transhydrogenase	890					cellular metabolic process (GO:0044237)|hydrogen ion transmembrane transport (GO:1902600)|oxidation-reduction process (GO:0055114)|proton transport (GO:0015992)|reactive oxygen species metabolic process (GO:0072593)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain (GO:0005746)|mitochondrion (GO:0005739)	NAD binding (GO:0051287)|NAD(P)+ transhydrogenase (AB-specific) activity (GO:0008750)|NAD(P)+ transhydrogenase (B-specific) activity (GO:0003957)|NAD(P)+ transhydrogenase activity (GO:0008746)|NADP binding (GO:0050661)	p.G890*(1)		breast(1)|central_nervous_system(2)|endometrium(2)|kidney(7)|large_intestine(6)|liver(2)|lung(20)|ovary(3)|prostate(2)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	Lung NSC(6;2.58e-06)					TGTGATTCTTGGAGGCTATGG	0.413																																						uc003joe.2																			1	Substitution - Nonsense(1)		lung(1)	ovary(2)|central_nervous_system(1)	3						c.(2668-2670)GGA>TGA		nicotinamide nucleotide transhydrogenase	NADH(DB00157)						95.0	87.0	90.0					5																	43675646		2203	4300	6503	SO:0001587	stop_gained	23530				tricarboxylic acid cycle	integral to membrane|mitochondrial respiratory chain	NAD binding|NAD(P)+ transhydrogenase (AB-specific) activity|NAD(P)+ transhydrogenase (B-specific) activity|NADP binding	g.chr5:43675646G>T	U40490	CCDS3949.1	5p12	2008-02-05			ENSG00000112992	ENSG00000112992	1.6.1.1		7863	protein-coding gene	gene with protein product		607878				9271681, 9524818	Standard	NM_182977		Approved		uc003jof.3	Q13423	OTTHUMG00000096961	ENST00000264663.5:c.2668G>T	5.37:g.43675646G>T	ENSP00000264663:p.Gly890*					NNT_uc003jof.2_Nonsense_Mutation_p.G890*	p.G890*	NM_012343	NP_036475	Q13423	NNTM_HUMAN			18	2923	+	Lung NSC(6;2.58e-06)		890			Mitochondrial matrix.		Q16796|Q2TB60|Q8N3V4	Nonsense_Mutation	SNP	ENST00000264663.5	37	c.2668G>T	CCDS3949.1	.	.	.	.	.	.	.	.	.	.	G	43	10.296959	0.99378	.	.	ENSG00000112992	ENST00000542759;ENST00000264663;ENST00000344920;ENST00000512996	.	.	.	5.74	5.74	0.90152	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-13.1252	20.2982	0.98569	0.0:0.0:1.0:0.0	.	.	.	.	X	405;890;890;759	.	ENSP00000264663:G890X	G	+	1	0	NNT	43711403	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.365000	0.97139	2.873000	0.98535	0.563000	0.77884	GGA		PASS	0.413	NNT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214026.1	NM_182977		35	132	35	132	---	---	---	---
HCN1	348980	broad.mit.edu	37	5	45262788	45262788	+	Silent	SNP	G	G	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr5:45262788G>T	ENST00000303230.4	-	8	1965	c.1908C>A	c.(1906-1908)atC>atA	p.I636I		NM_021072.3	NP_066550.2	O60741	HCN1_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 1	636					apical protein localization (GO:0045176)|cellular response to cAMP (GO:0071320)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of membrane potential (GO:0042391)|retinal cone cell development (GO:0046549)|sodium ion transmembrane transport (GO:0035725)|synaptic transmission (GO:0007268)	axon (GO:0030424)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cAMP binding (GO:0030552)|intracellular cAMP activated cation channel activity (GO:0005222)|potassium channel activity (GO:0005267)|voltage-gated potassium channel activity (GO:0005249)|voltage-gated sodium channel activity (GO:0005248)	p.I636I(1)		NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5)	156						TGATGGGAGCGATTGCCTGCA	0.478																																						uc003jok.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(1906-1908)ATC>ATA		hyperpolarization activated cyclic							174.0	155.0	161.0					5																	45262788		2203	4300	6503	SO:0001819	synonymous_variant	348980					integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity	g.chr5:45262788G>T	AF064876	CCDS3952.1	5p12	2011-07-05			ENSG00000164588	ENSG00000164588		"""Voltage-gated ion channels / Cyclic nucleotide-regulated channels"""	4845	protein-coding gene	gene with protein product		602780		BCNG1		9405696, 9630217, 16382102	Standard	NM_021072		Approved	BCNG-1, HAC-2	uc003jok.3	O60741	OTTHUMG00000131155	ENST00000303230.4:c.1908C>A	5.37:g.45262788G>T							p.I636I	NM_021072	NP_066550	O60741	HCN1_HUMAN			8	1933	-			636			Cytoplasmic (Potential).			Silent	SNP	ENST00000303230.4	37	c.1908C>A	CCDS3952.1																																																																																				PASS	0.478	HCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253847.1	NM_021072		59	166	59	166	---	---	---	---
ITGA1	3672	broad.mit.edu	37	5	52235523	52235523	+	Splice_Site	SNP	T	T	C			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr5:52235523T>C	ENST00000282588.6	+	25	3638		c.e25+2		CTD-2175A23.1_ENST00000505701.1_RNA|CTD-2175A23.1_ENST00000503559.1_RNA	NM_181501.1	NP_852478.1	P56199	ITA1_HUMAN	integrin, alpha 1						activation of MAPK activity (GO:0000187)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell-matrix adhesion (GO:0007160)|cellular extravasation (GO:0045123)|extracellular matrix organization (GO:0030198)|integrin-mediated signaling pathway (GO:0007229)|muscle contraction (GO:0006936)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|neutrophil chemotaxis (GO:0030593)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of phosphoprotein phosphatase activity (GO:0032516)|vasodilation (GO:0042311)	acrosomal vesicle (GO:0001669)|basal part of cell (GO:0045178)|cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integrin alpha1-beta1 complex (GO:0034665)|integrin complex (GO:0008305)|membrane (GO:0016020)|membrane raft (GO:0045121)|neuron projection (GO:0043005)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)	collagen binding (GO:0005518)|collagen binding involved in cell-matrix adhesion (GO:0098639)|metal ion binding (GO:0046872)|protein phosphatase binding (GO:0019903)	p.?(1)		NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(19)|ovary(2)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51		Lung NSC(810;5.05e-05)|Breast(144;0.0851)				ACAATTCTGGTAAATTAAGAC	0.328																																						uc003jou.2																			1	Unknown(1)		lung(1)	ovary(2)|lung(1)	3						c.e25+2		integrin, alpha 1 precursor							64.0	63.0	63.0					5																	52235523		2203	4300	6503	SO:0001630	splice_region_variant	3672				axon guidance|cell-matrix adhesion|integrin-mediated signaling pathway|muscle contraction	integrin complex	collagen binding|receptor activity	g.chr5:52235523T>C	X68742	CCDS3955.1	5q11.1	2010-03-23			ENSG00000213949	ENSG00000213949		"""CD molecules"", ""Integrins"""	6134	protein-coding gene	gene with protein product		192968				8428973, 11937138	Standard	NM_181501		Approved	VLA1, CD49a	uc003jou.3	P56199	OTTHUMG00000131163	ENST00000282588.6:c.3180+2T>C	5.37:g.52235523T>C						ITGA1_uc003jov.2_Splice_Site|ITGA1_uc003jow.2_Splice_Site_p.L591_splice	p.L1060_splice	NM_181501	NP_852478	P56199	ITA1_HUMAN			25	3232	+		Lung NSC(810;5.05e-05)|Breast(144;0.0851)						B2RNU0	Splice_Site	SNP	ENST00000282588.6	37	c.3180_splice	CCDS3955.1	.	.	.	.	.	.	.	.	.	.	T	16.48	3.135313	0.56828	.	.	ENSG00000213949	ENST00000282588	.	.	.	6.05	6.05	0.98169	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.985	0.58586	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	ITGA1	52271280	1.000000	0.71417	1.000000	0.80357	0.653000	0.38743	4.302000	0.59092	2.320000	0.78422	0.528000	0.53228	.		PASS	0.328	ITGA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253855.3	NM_181501	Intron	39	36	39	36	---	---	---	---
GPX8	493869	broad.mit.edu	37	5	54456978	54456978	+	Missense_Mutation	SNP	G	G	C			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr5:54456978G>C	ENST00000503787.1	+	2	436	c.361G>C	c.(361-363)Gaa>Caa	p.E121Q	CDC20B_ENST00000381375.2_Intron|GPX8_ENST00000515370.1_Missense_Mutation_p.E70Q|CDC20B_ENST00000334206.5_Intron|GPX8_ENST00000506123.1_3'UTR|CDC20B_ENST00000331730.3_Intron|GPX8_ENST00000296734.6_Intron|CDC20B_ENST00000296733.1_Intron|CDC20B_ENST00000322374.6_Intron	NM_001008397.2	NP_001008398.2	Q8TED1	GPX8_HUMAN	glutathione peroxidase 8 (putative)	121					response to oxidative stress (GO:0006979)	endoplasmic reticulum lumen (GO:0005788)|integral component of membrane (GO:0016021)	glutathione peroxidase activity (GO:0004602)|peroxidase activity (GO:0004601)	p.E121Q(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(5)|prostate(1)	11					Glutathione(DB00143)	CCCAAGCAAGGAAGTAGAATC	0.453																																						uc003jpq.2																			1	Substitution - Missense(1)		lung(1)		0						c.(361-363)GAA>CAA		glutathione peroxidase 8	Glutathione(DB00143)						80.0	83.0	82.0					5																	54456978		2203	4300	6503	SO:0001583	missense	493869				response to oxidative stress	integral to membrane	glutathione peroxidase activity	g.chr5:54456978G>C	BC029424	CCDS34156.1	5q11.2	2008-09-29				ENSG00000164294			33100	protein-coding gene	gene with protein product							Standard	NM_001008397		Approved	UNQ847, EPLA847	uc003jpq.2	Q8TED1		ENST00000503787.1:c.361G>C	5.37:g.54456978G>C	ENSP00000423822:p.Glu121Gln					CDC20B_uc003jpn.1_Intron|CDC20B_uc010ivu.1_Intron|CDC20B_uc003jpo.1_Intron|CDC20B_uc010ivv.1_Intron|CDC20B_uc003jpp.2_Intron|GPX8_uc003jpr.2_Intron|GPX8_uc003jps.2_RNA|GPX8_uc003jpt.2_Missense_Mutation_p.E70Q	p.E121Q	NM_001008397	NP_001008398	Q8TED1	GPX8_HUMAN			2	398	+			121						Missense_Mutation	SNP	ENST00000503787.1	37	c.361G>C	CCDS34156.1	.	.	.	.	.	.	.	.	.	.	G	19.61	3.860108	0.71834	.	.	ENSG00000164294	ENST00000503787;ENST00000515370	T;T	0.11495	2.77;2.77	5.47	5.47	0.80525	Thioredoxin-like fold (2);	0.176116	0.56097	D	0.000040	T	0.28466	0.0704	M	0.70108	2.13	0.58432	D	0.999997	D;P	0.62365	0.991;0.936	P;P	0.56434	0.798;0.537	T	0.00624	-1.1639	10	0.33940	T	0.23	.	19.337	0.94324	0.0:0.0:1.0:0.0	.	70;121	E7ETY7;Q8TED1	.;GPX8_HUMAN	Q	121;70	ENSP00000423822:E121Q;ENSP00000427466:E70Q	ENSP00000423822:E121Q	E	+	1	0	GPX8	54492735	1.000000	0.71417	1.000000	0.80357	0.946000	0.59487	7.521000	0.81832	2.574000	0.86865	0.655000	0.94253	GAA		PASS	0.453	GPX8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369717.1	NM_001008397		48	47	48	47	---	---	---	---
ACTBL2	345651	broad.mit.edu	37	5	56777566	56777566	+	Silent	SNP	G	G	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr5:56777566G>T	ENST00000423391.1	-	1	1070	c.969C>A	c.(967-969)ccC>ccA	p.P323P	AC025470.1_ENST00000584598.1_RNA|CTD-2023N9.1_ENST00000506106.1_RNA	NM_001017992.3	NP_001017992.1	Q562R1	ACTBL_HUMAN	actin, beta-like 2	323						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)	p.P323P(1)		breast(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(7)|ovary(3)|pancreas(1)|prostate(2)	28		Lung NSC(810;0.000135)|Prostate(74;0.055)|Breast(144;0.0707)|Ovarian(174;0.182)		OV - Ovarian serous cystadenocarcinoma(10;4.24e-37)		TCATGGTGCTGGGTGCCAGGG	0.512																																						uc003jrm.2																			1	Substitution - coding silent(1)		lung(1)	ovary(3)	3						c.(967-969)CCC>CCA		actin, beta-like 2							117.0	105.0	109.0					5																	56777566		2203	4300	6503	SO:0001819	synonymous_variant	345651					cytoplasm|cytoskeleton	ATP binding	g.chr5:56777566G>T		CCDS34163.1	5q11.2	2014-08-08			ENSG00000169067	ENSG00000169067			17780	protein-coding gene	gene with protein product		614835					Standard	NM_001017992		Approved	DKFZp686D0972	uc003jrm.3	Q562R1	OTTHUMG00000162330	ENST00000423391.1:c.969C>A	5.37:g.56777566G>T							p.P323P	NM_001017992	NP_001017992	Q562R1	ACTBL_HUMAN		OV - Ovarian serous cystadenocarcinoma(10;4.24e-37)	1	1071	-		Lung NSC(810;0.000135)|Prostate(74;0.055)|Breast(144;0.0707)|Ovarian(174;0.182)	323					B2RPJ1|Q562R2|Q562S9|Q562X8	Silent	SNP	ENST00000423391.1	37	c.969C>A	CCDS34163.1																																																																																				PASS	0.512	ACTBL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368579.1	NM_001017992		64	60	64	60	---	---	---	---
ACTBL2	345651	broad.mit.edu	37	5	56778020	56778020	+	Missense_Mutation	SNP	A	A	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr5:56778020A>T	ENST00000423391.1	-	1	616	c.515T>A	c.(514-516)cTg>cAg	p.L172Q	AC025470.1_ENST00000584598.1_RNA|CTD-2023N9.1_ENST00000506106.1_RNA	NM_001017992.3	NP_001017992.1	Q562R1	ACTBL_HUMAN	actin, beta-like 2	172						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)	p.L172Q(1)		breast(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(7)|ovary(3)|pancreas(1)|prostate(2)	28		Lung NSC(810;0.000135)|Prostate(74;0.055)|Breast(144;0.0707)|Ovarian(174;0.182)		OV - Ovarian serous cystadenocarcinoma(10;4.24e-37)		GGCATGAGGCAGGGCATAACC	0.547																																						uc003jrm.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)	3						c.(514-516)CTG>CAG		actin, beta-like 2							102.0	86.0	91.0					5																	56778020		2203	4300	6503	SO:0001583	missense	345651					cytoplasm|cytoskeleton	ATP binding	g.chr5:56778020A>T		CCDS34163.1	5q11.2	2014-08-08			ENSG00000169067	ENSG00000169067			17780	protein-coding gene	gene with protein product		614835					Standard	NM_001017992		Approved	DKFZp686D0972	uc003jrm.3	Q562R1	OTTHUMG00000162330	ENST00000423391.1:c.515T>A	5.37:g.56778020A>T	ENSP00000416706:p.Leu172Gln						p.L172Q	NM_001017992	NP_001017992	Q562R1	ACTBL_HUMAN		OV - Ovarian serous cystadenocarcinoma(10;4.24e-37)	1	617	-		Lung NSC(810;0.000135)|Prostate(74;0.055)|Breast(144;0.0707)|Ovarian(174;0.182)	172					B2RPJ1|Q562R2|Q562S9|Q562X8	Missense_Mutation	SNP	ENST00000423391.1	37	c.515T>A	CCDS34163.1	.	.	.	.	.	.	.	.	.	.	A	14.90	2.674394	0.47781	.	.	ENSG00000169067	ENST00000423391	D	0.97553	-4.43	4.77	4.77	0.60923	.	0.000000	0.50627	D	0.000102	D	0.98985	0.9654	H	0.97829	4.085	0.48632	D	0.999682	D	0.89917	1.0	D	0.91635	0.999	D	0.99084	1.0838	10	0.87932	D	0	.	12.2734	0.54719	1.0:0.0:0.0:0.0	.	172	Q562R1	ACTBL_HUMAN	Q	172	ENSP00000416706:L172Q	ENSP00000416706:L172Q	L	-	2	0	ACTBL2	56813777	1.000000	0.71417	0.995000	0.50966	0.935000	0.57460	9.127000	0.94417	1.984000	0.57885	0.533000	0.62120	CTG		PASS	0.547	ACTBL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368579.1	NM_001017992		48	55	48	55	---	---	---	---
HTR1A	3350	broad.mit.edu	37	5	63256357	63256358	+	Missense_Mutation	DNP	GG	GG	TT	rs200512649		TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr5:63256357_63256358GG>TT	ENST00000323865.3	-	1	1422_1423	c.1189_1190CC>AA	c.(1189-1191)CCc>AAc	p.P397N	RP11-158J3.2_ENST00000502882.1_RNA	NM_000524.3	NP_000515.2	P08908	5HT1A_HUMAN	5-hydroxytryptamine (serotonin) receptor 1A, G protein-coupled	397					adenylate cyclase-inhibiting serotonin receptor signaling pathway (GO:0007198)|behavioral fear response (GO:0001662)|cell proliferation (GO:0008283)|exploration behavior (GO:0035640)|G-protein coupled receptor signaling pathway (GO:0007186)|positive regulation of cell proliferation (GO:0008284)|regulation of behavior (GO:0050795)|regulation of dopamine metabolic process (GO:0042053)|regulation of hormone secretion (GO:0046883)|regulation of serotonin secretion (GO:0014062)|serotonin metabolic process (GO:0042428)|serotonin receptor signaling pathway (GO:0007210)|vasoconstriction (GO:0042310)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	serotonin receptor activity (GO:0004993)	p.P397H(1)|p.P397T(1)|p.P397N(1)		cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(29)|ovary(2)|pancreas(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	56		Lung NSC(810;3.55e-06)|Prostate(74;0.0352)|Ovarian(174;0.0545)|Breast(144;0.0575)|Colorectal(97;0.234)		Lung(70;0.105)	Acepromazine(DB01614)|Alprenolol(DB00866)|Alverine(DB01616)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Asenapine(DB06216)|Bopindolol(DB08807)|Bromocriptine(DB01200)|Buspirone(DB00490)|Cabergoline(DB00248)|Chlorpromazine(DB00477)|Cinitapride(DB08810)|Clozapine(DB00363)|Desipramine(DB01151)|Dopamine(DB00988)|Doxepin(DB01142)|Eletriptan(DB00216)|Ergoloid mesylate(DB01049)|Ergotamine(DB00696)|Iloperidone(DB04946)|Imipramine(DB00458)|Ketamine(DB01221)|Lisuride(DB00589)|Loxapine(DB00408)|Lurasidone(DB08815)|Methysergide(DB00247)|Mianserin(DB06148)|Molindone(DB01618)|Naratriptan(DB00952)|Nefazodone(DB01149)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Ondansetron(DB00904)|Paliperidone(DB01267)|Penbutolol(DB01359)|Pergolide(DB01186)|Pindolol(DB00960)|Pipotiazine(DB01621)|Pramipexole(DB00413)|Propranolol(DB00571)|Quetiapine(DB01224)|Risperidone(DB00734)|Ropinirole(DB00268)|Rotigotine(DB05271)|Sumatriptan(DB00669)|Thioproperazine(DB01622)|Trazodone(DB00656)|Trimipramine(DB00726)|Vilazodone(DB06684)|Yohimbine(DB01392)|Ziprasidone(DB00246)|Zolmitriptan(DB00315)	GTAAATGACGGGGTTAAGCAGA	0.52																																						uc011cqt.1																			3	Substitution - Missense(3)		lung(3)	ovary(2)|pancreas(2)	4						c.(1189-1191)CCC>CAC|c.(1189-1191)CCC>ACC		5-hydroxytryptamine (serotonin) receptor 1A	Alprenolol(DB00866)|Aripiprazole(DB01238)|Buspirone(DB00490)|Clozapine(DB00363)|Eletriptan(DB00216)|Ergoloid mesylate(DB01049)|Fluvoxamine(DB00176)|Lisuride(DB00589)|Methysergide(DB00247)|Mirtazapine(DB00370)|Pindolol(DB00960)|Propranolol(DB00571)|Quetiapine(DB01224)|Sertraline(DB01104)|Tegaserod(DB01079)|Trazodone(DB00656)|Venlafaxine(DB00285)|Ziprasidone(DB00246)																																			SO:0001583	missense	3350				behavior|positive regulation of cell proliferation	integral to plasma membrane	serotonin receptor activity	g.chr5:63256357G>T|g.chr5:63256358G>T	AF498978	CCDS34168.1	5q11.2-q13	2012-08-08	2012-02-03			ENSG00000178394		"""5-HT (serotonin) receptors"", ""GPCR / Class A : 5-HT (serotonin) receptors, GPCR only"""	5286	protein-coding gene	gene with protein product		109760	"""5-hydroxytryptamine (serotonin) receptor 1A"""	ADRB2RL1, ADRBRL1		2591972, 12969265	Standard	NM_000524		Approved	5-HT1A	uc011cqt.3	P08908		ENST00000323865.3:c.1189_1190delinsTT	5.37:g.63256357_63256358delinsTT	ENSP00000316244:p.Pro397Asn						p.P397H|p.P397T	NM_000524	NP_000515	P08908	5HT1A_HUMAN		Lung(70;0.105)	1	1190|1189	-		Lung NSC(810;3.55e-06)|Prostate(74;0.0352)|Ovarian(174;0.0545)|Breast(144;0.0575)|Colorectal(97;0.234)	397			Helical; Name=7; (By similarity).		Q6LAE7	Missense_Mutation	SNP	ENST00000323865.3	37	c.1190C>A|c.1189C>A	CCDS34168.1																																																																																				PASS	0.520	HTR1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368397.1	NM_000524		143|141	173|175	141	173	---	---	---	---
NAIP	4671	broad.mit.edu	37	5	70308644	70308644	+	Missense_Mutation	SNP	C	C	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr5:70308644C>A	ENST00000517649.1	-	4	389	c.99G>T	c.(97-99)caG>caT	p.Q33H	NAIP_ENST00000508426.2_Missense_Mutation_p.Q33H|NAIP_ENST00000194097.4_Missense_Mutation_p.Q33H|NAIP_ENST00000503719.2_Intron|NAIP_ENST00000523981.1_Intron	NM_004536.2	NP_004527.2	Q13075	BIRC1_HUMAN	NLR family, apoptosis inhibitory protein	33					inflammatory response (GO:0006954)|innate immune response (GO:0045087)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of neuron apoptotic process (GO:0043524)|nervous system development (GO:0007399)	basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|cysteine-type endopeptidase inhibitor activity involved in apoptotic process (GO:0043027)|metal ion binding (GO:0046872)	p.Q33H(1)		central_nervous_system(1)	1		Lung NSC(167;4.15e-05)|Prostate(74;0.00996)|Ovarian(174;0.0448)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;3.04e-60)|Epithelial(20;7.09e-58)|all cancers(19;1.13e-53)|Lung(70;0.0174)		CCTTTGCCAACTGAACTGCAT	0.478																																						uc003kar.1																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1						c.(97-99)CAG>CAT		NLR family, apoptosis inhibitory protein isoform							125.0	114.0	118.0					5																	70308644		2202	4296	6498	SO:0001583	missense	4671				anti-apoptosis|apoptosis|nervous system development	basolateral plasma membrane|cytoplasm	caspase inhibitor activity|metal ion binding|nucleoside-triphosphatase activity|nucleotide binding	g.chr5:70308644C>A	U19251	CCDS4009.1, CCDS43327.1	5q13.2	2010-06-16	2006-12-08	2006-12-08	ENSG00000249437	ENSG00000249437		"""Baculoviral IAP repeat containing"", ""Nucleotide-binding domain and leucine rich repeat containing"""	7634	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and BIR domain containing 1"", ""NLR family, BIR domain containing 1"""	600355	"""baculoviral IAP repeat-containing 1"""	BIRC1		7813013	Standard	NM_022892		Approved	NLRB1	uc003jyj.1	Q13075	OTTHUMG00000163318	ENST00000517649.1:c.99G>T	5.37:g.70308644C>A	ENSP00000428657:p.Gln33His					NAIP_uc003kat.1_Intron|NAIP_uc011crs.1_Missense_Mutation_p.Q33H|NAIP_uc003kas.1_Intron	p.Q33H	NM_004536	NP_004527	Q13075	BIRC1_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;3.04e-60)|Epithelial(20;7.09e-58)|all cancers(19;1.13e-53)|Lung(70;0.0174)	4	817	-		Lung NSC(167;4.15e-05)|Prostate(74;0.00996)|Ovarian(174;0.0448)|Breast(144;0.198)	33					B9EG72|E9PHD1|O75857|Q13730|Q59GI6|Q8TDZ4|Q99796	Missense_Mutation	SNP	ENST00000517649.1	37	c.99G>T	CCDS4009.1	.	.	.	.	.	.	.	.	.	.	c	11.10	1.539562	0.27563	.	.	ENSG00000249437	ENST00000517649;ENST00000194097;ENST00000508426	T;T;T	0.76316	-1.01;-1.01;-1.01	3.25	-6.49	0.01890	.	2.505560	0.02342	U	0.075009	T	0.66538	0.2799	L	0.29908	0.895	0.09310	N	1	P;P	0.51653	0.947;0.947	P;P	0.47744	0.453;0.556	T	0.65500	-0.6153	10	0.40728	T	0.16	.	2.1127	0.03707	0.2236:0.1381:0.1114:0.5268	.	33;33	E7EQW0;Q13075	.;BIRC1_HUMAN	H	33	ENSP00000428657:Q33H;ENSP00000443944:Q33H;ENSP00000429545:Q33H	ENSP00000443944:Q33H	Q	-	3	2	NAIP	70344400	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-2.127000	0.01315	-2.257000	0.00695	-0.719000	0.03609	CAG		PASS	0.478	NAIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372649.6	NM_004536		85	184	85	184	---	---	---	---
ZNF366	167465	broad.mit.edu	37	5	71752345	71752345	+	Silent	SNP	G	G	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr5:71752345G>T	ENST00000318442.5	-	3	1900	c.1410C>A	c.(1408-1410)atC>atA	p.I470I		NM_152625.1	NP_689838.1	Q8N895	ZN366_HUMAN	zinc finger protein 366	470	Interaction with NRIP1.				negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|response to estrogen (GO:0043627)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|estrogen receptor binding (GO:0030331)|metal ion binding (GO:0046872)|transcription corepressor activity (GO:0003714)	p.I470I(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(9)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	35		Lung NSC(167;0.0247)|Ovarian(174;0.0908)|Prostate(461;0.155)		OV - Ovarian serous cystadenocarcinoma(47;2.51e-53)		TGTTGGTGTGGATCAGCACGT	0.557																																						uc003kce.1																			1	Substitution - coding silent(1)		lung(1)	central_nervous_system(1)|skin(1)	2						c.(1408-1410)ATC>ATA		zinc finger protein 366							312.0	257.0	276.0					5																	71752345		2203	4300	6503	SO:0001819	synonymous_variant	167465				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr5:71752345G>T	AK097115	CCDS4015.1	5q13.1	2013-01-08			ENSG00000178175	ENSG00000178175		"""Zinc fingers, C2H2-type"""	18316	protein-coding gene	gene with protein product		610159					Standard	NM_152625		Approved	FLJ39796	uc003kce.1	Q8N895	OTTHUMG00000100965	ENST00000318442.5:c.1410C>A	5.37:g.71752345G>T							p.I470I	NM_152625	NP_689838	Q8N895	ZN366_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;2.51e-53)	3	1596	-		Lung NSC(167;0.0247)|Ovarian(174;0.0908)|Prostate(461;0.155)	470			C2H2-type 8.		Q5HYI9|Q7RTV4	Silent	SNP	ENST00000318442.5	37	c.1410C>A	CCDS4015.1																																																																																				PASS	0.557	ZNF366-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000218574.3			104	106	104	106	---	---	---	---
ARHGEF28	64283	broad.mit.edu	37	5	73136487	73136487	+	Missense_Mutation	SNP	G	G	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr5:73136487G>T	ENST00000426542.2	+	10	1349	c.1329G>T	c.(1327-1329)caG>caT	p.Q443H	ARHGEF28_ENST00000287898.5_Missense_Mutation_p.Q443H|ARHGEF28_ENST00000296799.4_Missense_Mutation_p.Q130H|ARHGEF28_ENST00000513042.2_Missense_Mutation_p.Q443H|ARHGEF28_ENST00000296794.6_Missense_Mutation_p.Q443H|ARHGEF28_ENST00000437974.1_Missense_Mutation_p.Q443H|ARHGEF28_ENST00000545377.1_Missense_Mutation_p.Q443H|ARHGEF28_ENST00000513841.1_3'UTR			Q8N1W1	ARG28_HUMAN	Rho guanine nucleotide exchange factor (GEF) 28	443					central nervous system neuron axonogenesis (GO:0021955)|intracellular signal transduction (GO:0035556)|neurofilament cytoskeleton organization (GO:0060052)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|RNA binding (GO:0003723)	p.Q443H(2)									AAGCCCAGCAGTCCTTCATGT	0.458																																						uc011csq.1																			2	Substitution - Missense(2)		lung(2)		0						c.(1327-1329)CAG>CAT		Rho-guanine nucleotide exchange factor							83.0	81.0	81.0					5																	73136487		2006	4155	6161	SO:0001583	missense	64283				cell differentiation|intracellular signal transduction|regulation of Rho protein signal transduction	cytoplasm|plasma membrane	metal ion binding|Rho guanyl-nucleotide exchange factor activity|RNA binding	g.chr5:73136487G>T		CCDS47231.1, CCDS47231.2, CCDS54870.1, CCDS58957.1	5q13.2	2012-08-08			ENSG00000214944	ENSG00000214944			30322	protein-coding gene	gene with protein product		612790				9199174, 11058585	Standard	NM_001177693		Approved	RGNEF, p190RhoGEF, RIP2	uc010izf.3	Q8N1W1	OTTHUMG00000162454	ENST00000426542.2:c.1329G>T	5.37:g.73136487G>T	ENSP00000412175:p.Gln443His					RGNEF_uc003kcx.2_Missense_Mutation_p.Q443H|RGNEF_uc003kcy.1_Missense_Mutation_p.Q443H|RGNEF_uc010izf.2_Missense_Mutation_p.Q443H|RGNEF_uc011csr.1_Missense_Mutation_p.Q130H	p.Q443H	NM_001080479	NP_001073948	Q8N1W1	RGNEF_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;1.25e-51)	10	1340	+		Lung NSC(167;0.0378)|all_lung(232;0.04)|Ovarian(174;0.0798)	443					B2RXG7|B4E3K4|B5MDA3|B7ZW32|E9PC75|Q8NCM7|Q96E37|Q9H6L3|Q9H6W0	Missense_Mutation	SNP	ENST00000426542.2	37	c.1329G>T	CCDS54870.1	.	.	.	.	.	.	.	.	.	.	G	11.14	1.551894	0.27739	.	.	ENSG00000214944	ENST00000296794;ENST00000545377;ENST00000513042;ENST00000287898;ENST00000437974;ENST00000426542;ENST00000296799	T;T;T;T;T;T;T	0.10382	3.13;3.12;3.12;2.88;3.12;3.12;2.97	6.07	2.27	0.28462	.	.	.	.	.	T	0.12860	0.0312	L	0.50333	1.59	0.09310	N	1	P;B;B;P;B	0.38863	0.65;0.01;0.01;0.547;0.017	B;B;B;B;B	0.44224	0.19;0.006;0.006;0.444;0.009	T	0.19778	-1.0295	9	0.46703	T	0.11	.	4.8135	0.13354	0.2362:0.0:0.6148:0.149	.	130;443;443;443;443	B5MDA3;Q8N1W1;E9PC75;Q8N1W1-2;Q8N1W1-4	.;RGNEF_HUMAN;.;.;.	H	443;443;443;443;443;443;130	ENSP00000296794:Q443H;ENSP00000441913:Q443H;ENSP00000441436:Q443H;ENSP00000287898:Q443H;ENSP00000411459:Q443H;ENSP00000412175:Q443H;ENSP00000296799:Q130H	ENSP00000287898:Q443H	Q	+	3	2	RP11-428C6.1	73172243	0.000000	0.05858	0.000000	0.03702	0.011000	0.07611	0.650000	0.24858	0.133000	0.18654	-0.150000	0.13652	CAG		PASS	0.458	ARHGEF28-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000368975.1			17	15	17	15	---	---	---	---
COL4A3BP	10087	broad.mit.edu	37	5	74706902	74706902	+	Missense_Mutation	SNP	C	C	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr5:74706902C>A	ENST00000405807.4	-	8	1285	c.864G>T	c.(862-864)gaG>gaT	p.E288D	COL4A3BP_ENST00000380494.5_Missense_Mutation_p.E416D|COL4A3BP_ENST00000261415.7_Missense_Mutation_p.E288D	NM_005713.2	NP_005704.1	Q9Y5P4	C43BP_HUMAN	collagen, type IV, alpha 3 (Goodpasture antigen) binding protein	288					cell morphogenesis (GO:0000902)|cell proliferation (GO:0008283)|ceramide metabolic process (GO:0006672)|endoplasmic reticulum organization (GO:0007029)|ER to Golgi ceramide transport (GO:0035621)|heart morphogenesis (GO:0003007)|immune response (GO:0006955)|in utero embryonic development (GO:0001701)|lipid homeostasis (GO:0055088)|mitochondrion morphogenesis (GO:0070584)|muscle contraction (GO:0006936)|protein phosphorylation (GO:0006468)|response to endoplasmic reticulum stress (GO:0034976)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)	cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|Golgi apparatus (GO:0005794)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	ceramide binding (GO:0097001)|ceramide transporter activity (GO:0035620)|phosphatidylinositol-4-phosphate binding (GO:0070273)|protein kinase activity (GO:0004672)	p.E416D(1)|p.E288D(1)		breast(1)|kidney(1)|large_intestine(5)|lung(4)|skin(3)|stomach(1)|urinary_tract(1)	16		all_lung(232;0.00101)|Lung NSC(167;0.00278)|Ovarian(174;0.0129)|Prostate(461;0.174)		OV - Ovarian serous cystadenocarcinoma(47;1e-53)		TATATGCTTCCTCTGTTCTTC	0.303																																						uc011csu.1																			2	Substitution - Missense(2)		lung(2)	skin(1)	1						c.(862-864)GAG>GAT		alpha 3 type IV collagen binding protein isoform							192.0	190.0	191.0					5																	74706902		2203	4299	6502	SO:0001583	missense	10087				ER to Golgi ceramide transport|immune response	cytosol|endoplasmic reticulum membrane|Golgi apparatus	ceramide binding|phosphatidylinositol-4-phosphate binding|protein binding|protein kinase activity	g.chr5:74706902C>A	AF136450	CCDS4028.1, CCDS4029.1, CCDS47235.1	5q13.3	2013-01-10	2007-06-08	2007-06-08	ENSG00000113163	ENSG00000113163		"""StAR-related lipid transfer (START) domain containing"", ""Pleckstrin homology (PH) domain containing"""	2205	protein-coding gene	gene with protein product	"""ceramide transporter"", ""StAR-related lipid transfer (START) domain containing 11"""	604677				10212244	Standard	NM_001130105		Approved	GPBP, STARD11, CERT	uc003kdt.3	Q9Y5P4	OTTHUMG00000102068	ENST00000405807.4:c.864G>T	5.37:g.74706902C>A	ENSP00000383996:p.Glu288Asp					COL4A3BP_uc003kds.2_Missense_Mutation_p.E288D|COL4A3BP_uc003kdt.2_Missense_Mutation_p.E416D|COL4A3BP_uc003kdu.2_Missense_Mutation_p.E288D	p.E288D	NM_005713	NP_005704	Q9Y5P4	C43BP_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;1e-53)	8	1286	-		all_lung(232;0.00101)|Lung NSC(167;0.00278)|Ovarian(174;0.0129)|Prostate(461;0.174)	288			Potential.		A8K7S2|B3KUB7|Q53YV1|Q53YV2|Q96Q85|Q96Q88|Q9H2S7|Q9H2S8	Missense_Mutation	SNP	ENST00000405807.4	37	c.864G>T	CCDS4028.1	.	.	.	.	.	.	.	.	.	.	C	15.99	2.994303	0.54041	.	.	ENSG00000113163	ENST00000405807;ENST00000380494;ENST00000261415	T;T;T	0.39406	1.16;1.08;1.18	5.82	0.0705	0.14379	.	0.000000	0.85682	D	0.000000	T	0.38453	0.1041	L	0.59436	1.845	0.46131	D	0.998881	P;P;B	0.49635	0.717;0.926;0.052	B;P;B	0.45099	0.18;0.469;0.022	T	0.22103	-1.0226	10	0.48119	T	0.1	-3.0501	9.1178	0.36769	0.0:0.4112:0.0:0.5888	.	288;416;288	Q9Y5P4;Q9Y5P4-3;Q9Y5P4-2	C43BP_HUMAN;.;.	D	288;416;288	ENSP00000383996:E288D;ENSP00000369862:E416D;ENSP00000261415:E288D	ENSP00000261415:E288D	E	-	3	2	COL4A3BP	74742658	0.669000	0.27502	0.989000	0.46669	0.482000	0.33219	-0.167000	0.09940	0.071000	0.16664	-0.345000	0.07892	GAG		PASS	0.303	COL4A3BP-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219875.2	NM_005713		35	39	35	39	---	---	---	---
PDE8B	8622	broad.mit.edu	37	5	76707522	76707522	+	Missense_Mutation	SNP	G	G	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr5:76707522G>A	ENST00000264917.5	+	15	1597	c.1552G>A	c.(1552-1554)Gga>Aga	p.G518R	PDE8B_ENST00000333194.4_Missense_Mutation_p.G463R|PDE8B_ENST00000346042.3_Missense_Mutation_p.G421R|PDE8B_ENST00000340978.3_Missense_Mutation_p.G471R|PDE8B_ENST00000505283.1_5'UTR|PDE8B_ENST00000342343.4_Missense_Mutation_p.G498R	NM_003719.3	NP_003710.1	O95263	PDE8B_HUMAN	phosphodiesterase 8B	518					cAMP catabolic process (GO:0006198)|cyclic nucleotide metabolic process (GO:0009187)|negative regulation of insulin secretion (GO:0046676)|negative regulation of steroid hormone biosynthetic process (GO:0090032)|phosphorelay signal transduction system (GO:0000160)	cytosol (GO:0005829)	3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|3',5'-cyclic-nucleotide phosphodiesterase activity (GO:0004114)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)	p.G518R(1)	GMDS/PDE8B(2)	NS(1)|autonomic_ganglia(2)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(10)|lung(15)|ovary(1)|prostate(2)|skin(3)	40		all_lung(232;0.00043)|Lung NSC(167;0.00114)|Ovarian(174;0.0107)|Prostate(461;0.0605)		OV - Ovarian serous cystadenocarcinoma(54;2.21e-49)|Epithelial(54;5.82e-43)|all cancers(79;4.06e-38)	Caffeine(DB00201)|Ketotifen(DB00920)	AAGACTGTCAGGAAACGAGTA	0.373																																						uc003kfa.2																			1	Substitution - Missense(1)		lung(1)		0						c.(1552-1554)GGA>AGA		phosphodiesterase 8B isoform 1							92.0	87.0	89.0					5																	76707522		2203	4300	6503	SO:0001583	missense	8622				cyclic nucleotide metabolic process|regulation of transcription, DNA-dependent	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding|two-component response regulator activity	g.chr5:76707522G>A	AF079529	CCDS4037.1, CCDS34190.1, CCDS34191.1, CCDS34192.1, CCDS34193.1	5q14.1	2008-05-15			ENSG00000113231	ENSG00000113231	3.1.4.17	"""Phosphodiesterases"""	8794	protein-coding gene	gene with protein product		603390				9784418	Standard	NM_003719		Approved		uc003kfa.3	O95263	OTTHUMG00000102170	ENST00000264917.5:c.1552G>A	5.37:g.76707522G>A	ENSP00000264917:p.Gly518Arg					PDE8B_uc003kfb.2_Missense_Mutation_p.G498R|PDE8B_uc003kfc.2_Missense_Mutation_p.G463R|PDE8B_uc003kfd.2_Missense_Mutation_p.G471R|PDE8B_uc003kfe.2_Missense_Mutation_p.G421R	p.G518R	NM_003719	NP_003710	O95263	PDE8B_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;2.21e-49)|Epithelial(54;5.82e-43)|all cancers(79;4.06e-38)	15	1597	+		all_lung(232;0.00043)|Lung NSC(167;0.00114)|Ovarian(174;0.0107)|Prostate(461;0.0605)	518					Q5J7V7|Q86XK8|Q8IUJ7|Q8IUJ8|Q8IUJ9|Q8IUK0|Q8N3T2	Missense_Mutation	SNP	ENST00000264917.5	37	c.1552G>A	CCDS4037.1	.	.	.	.	.	.	.	.	.	.	G	27.5	4.840183	0.91117	.	.	ENSG00000113231	ENST00000340978;ENST00000346042;ENST00000264917;ENST00000342343;ENST00000333194	T;T;T;T;T	0.69806	-0.38;-0.43;-0.38;-0.38;-0.43	5.12	5.12	0.69794	.	0.460651	0.24359	N	0.039209	T	0.82038	0.4950	M	0.74881	2.28	0.80722	D	1	D;D;D;D;D	0.89917	0.99;0.995;1.0;0.999;1.0	D;D;D;D;D	0.74348	0.962;0.949;0.983;0.983;0.962	D	0.84180	0.0439	10	0.72032	D	0.01	.	18.5762	0.91155	0.0:0.0:1.0:0.0	.	421;471;463;498;518	O95263-2;O95263-6;O95263-3;O95263-4;O95263	.;.;.;.;PDE8B_HUMAN	R	471;421;518;498;463	ENSP00000345446:G471R;ENSP00000330428:G421R;ENSP00000264917:G518R;ENSP00000345646:G498R;ENSP00000331336:G463R	ENSP00000264917:G518R	G	+	1	0	PDE8B	76743278	1.000000	0.71417	1.000000	0.80357	0.935000	0.57460	9.808000	0.99193	2.393000	0.81446	0.655000	0.94253	GGA		PASS	0.373	PDE8B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000220015.3	NM_003719		53	38	53	38	---	---	---	---
BHMT2	23743	broad.mit.edu	37	5	78379182	78379182	+	Missense_Mutation	SNP	C	C	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr5:78379182C>A	ENST00000255192.3	+	6	832	c.766C>A	c.(766-768)Cca>Aca	p.P256T	BHMT2_ENST00000521567.1_Missense_Mutation_p.P192T|DMGDH_ENST00000520388.1_Intron	NM_017614.4	NP_060084.2	Q9H2M3	BHMT2_HUMAN	betaine--homocysteine S-methyltransferase 2	256	Hcy-binding. {ECO:0000255|PROSITE- ProRule:PRU00333}.				L-methionine salvage (GO:0071267)|S-adenosylmethionine metabolic process (GO:0046500)|S-methylmethionine metabolic process (GO:0033477)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	S-adenosylmethionine-homocysteine S-methyltransferase activity (GO:0008898)|S-methylmethionine-homocysteine S-methyltransferase activity (GO:0061627)|zinc ion binding (GO:0008270)	p.P256T(1)		endometrium(2)|large_intestine(8)|lung(2)|ovary(1)|skin(1)|urinary_tract(1)	15		all_lung(232;0.00063)|Lung NSC(167;0.00171)|Ovarian(174;0.0261)|Prostate(461;0.191)		OV - Ovarian serous cystadenocarcinoma(54;2.09e-45)|Epithelial(54;9.3e-41)|all cancers(79;4.09e-36)	L-Methionine(DB00134)	TGTGGATCTCCCAGAATATCC	0.502																																						uc003kft.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(766-768)CCA>ACA		betaine-homocysteine methyltransferase 2	L-Methionine(DB00134)						62.0	64.0	63.0					5																	78379182		2203	4300	6503	SO:0001583	missense	23743				methionine biosynthetic process	cytoplasm	betaine-homocysteine S-methyltransferase activity|homocysteine S-methyltransferase activity|zinc ion binding	g.chr5:78379182C>A		CCDS4045.1, CCDS54871.1	5q13	2010-04-28	2010-04-28		ENSG00000132840	ENSG00000132840	2.1.1.5		1048	protein-coding gene	gene with protein product		605932				11087663, 18230605	Standard	NM_017614		Approved		uc003kft.3	Q9H2M3	OTTHUMG00000108158	ENST00000255192.3:c.766C>A	5.37:g.78379182C>A	ENSP00000255192:p.Pro256Thr					BHMT2_uc011cth.1_Missense_Mutation_p.P192T	p.P256T	NM_017614	NP_060084	Q9H2M3	BHMT2_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;2.09e-45)|Epithelial(54;9.3e-41)|all cancers(79;4.09e-36)	6	789	+		all_lung(232;0.00063)|Lung NSC(167;0.00171)|Ovarian(174;0.0261)|Prostate(461;0.191)	256			Hcy-binding.		B7Z516|Q9NXX7	Missense_Mutation	SNP	ENST00000255192.3	37	c.766C>A	CCDS4045.1	.	.	.	.	.	.	.	.	.	.	C	25.8	4.670453	0.88348	.	.	ENSG00000132840	ENST00000255192;ENST00000521567	T;T	0.30714	1.52;1.52	5.53	5.53	0.82687	Homocysteine S-methyltransferase (4);	0.000000	0.85682	D	0.000000	T	0.64800	0.2631	M	0.88450	2.955	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.997	T	0.71464	-0.4585	10	0.87932	D	0	-13.743	19.466	0.94939	0.0:1.0:0.0:0.0	.	192;256	B7Z516;Q9H2M3	.;BHMT2_HUMAN	T	256;192	ENSP00000255192:P256T;ENSP00000430278:P192T	ENSP00000255192:P256T	P	+	1	0	BHMT2	78414938	1.000000	0.71417	0.998000	0.56505	0.919000	0.55068	7.390000	0.79816	2.607000	0.88179	0.655000	0.94253	CCA		PASS	0.502	BHMT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226962.2	NM_017614		50	47	50	47	---	---	---	---
RASGRF2	5924	broad.mit.edu	37	5	80388701	80388701	+	Missense_Mutation	SNP	G	G	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr5:80388701G>T	ENST00000265080.4	+	10	1539	c.1472G>T	c.(1471-1473)gGa>gTa	p.G491V		NM_006909.2	NP_008840.1	O14827	RGRF2_HUMAN	Ras protein-specific guanine nucleotide-releasing factor 2	491	PH 2. {ECO:0000255|PROSITE- ProRule:PRU00145}.				apoptotic signaling pathway (GO:0097190)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|plasma membrane (GO:0005886)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.G491V(1)		biliary_tract(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(28)|ovary(5)|prostate(3)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	75		Lung NSC(167;0.00498)|all_lung(232;0.00531)|Ovarian(174;0.0357)		OV - Ovarian serous cystadenocarcinoma(54;4.22e-42)|Epithelial(54;4.04e-35)|all cancers(79;2.52e-29)		AAAAAGGAAGGAGAGAGACAA	0.388																																						uc003kha.1																			1	Substitution - Missense(1)		lung(1)	breast(5)|ovary(3)|large_intestine(2)|central_nervous_system(1)|skin(1)	12						c.(1471-1473)GGA>GTA		Ras protein-specific guanine							115.0	115.0	115.0					5																	80388701		2203	4300	6503	SO:0001583	missense	5924				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic transmission	cytosol|endoplasmic reticulum membrane|plasma membrane	protein binding|Rho guanyl-nucleotide exchange factor activity	g.chr5:80388701G>T	AF023130	CCDS4052.1	5q13	2013-01-10			ENSG00000113319	ENSG00000113319		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	9876	protein-coding gene	gene with protein product		606614					Standard	NM_006909		Approved	GRF2, Ras-GRF2	uc003kha.2	O14827	OTTHUMG00000119015	ENST00000265080.4:c.1472G>T	5.37:g.80388701G>T	ENSP00000265080:p.Gly491Val					RASGRF2_uc011ctn.1_RNA	p.G491V	NM_006909	NP_008840	O14827	RGRF2_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;4.22e-42)|Epithelial(54;4.04e-35)|all cancers(79;2.52e-29)	10	1472	+		Lung NSC(167;0.00498)|all_lung(232;0.00531)|Ovarian(174;0.0357)	491			PH 2.		B9EG89|Q9UK56	Missense_Mutation	SNP	ENST00000265080.4	37	c.1472G>T	CCDS4052.1	.	.	.	.	.	.	.	.	.	.	G	16.68	3.189175	0.57909	.	.	ENSG00000113319	ENST00000265080	T	0.28895	1.59	5.17	5.17	0.71159	Pleckstrin homology-type (1);Pleckstrin homology domain (2);	0.000000	0.85682	D	0.000000	T	0.31918	0.0812	L	0.54323	1.7	0.80722	D	1	B	0.29481	0.245	B	0.20577	0.03	T	0.07481	-1.0770	10	0.41790	T	0.15	.	19.017	0.92899	0.0:0.0:1.0:0.0	.	491	O14827	RGRF2_HUMAN	V	491	ENSP00000265080:G491V	ENSP00000265080:G491V	G	+	2	0	RASGRF2	80424457	1.000000	0.71417	1.000000	0.80357	0.853000	0.48598	9.769000	0.98969	2.579000	0.87056	0.650000	0.86243	GGA		PASS	0.388	RASGRF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239215.2	NM_006909		78	71	78	71	---	---	---	---
ATP6AP1L	92270	broad.mit.edu	37	5	81608492	81608492	+	Missense_Mutation	SNP	A	A	G			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr5:81608492A>G	ENST00000380167.4	+	9	1519	c.194A>G	c.(193-195)gAg>gGg	p.E65G	ATP6AP1L_ENST00000439350.1_Missense_Mutation_p.E65G|ATP6AP1L_ENST00000508366.1_3'UTR			Q52LC2	VAS1L_HUMAN	ATPase, H+ transporting, lysosomal accessory protein 1-like	65					ATP hydrolysis coupled proton transport (GO:0015991)	integral component of membrane (GO:0016021)|proton-transporting V-type ATPase, V1 domain (GO:0033180)	proton-transporting ATP synthase activity, rotational mechanism (GO:0046933)|proton-transporting ATPase activity, rotational mechanism (GO:0046961)	p.E65G(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|urinary_tract(1)	12						CGCCGAGTCGAGATCATTTCC	0.448											OREG0016689	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc003khv.2																			1	Substitution - Missense(1)		lung(1)		0						c.(193-195)GAG>GGG		ATPase, H+ transporting, lysosomal accessory							201.0	194.0	197.0					5																	81608492		2203	4300	6503	SO:0001583	missense	92270				ATP hydrolysis coupled proton transport	integral to membrane|proton-transporting V-type ATPase, V1 domain	hydrogen ion transporting ATP synthase activity, rotational mechanism|proton-transporting ATPase activity, rotational mechanism	g.chr5:81608492A>G	AK022625	CCDS34196.1	5q14.2	2010-03-10				ENSG00000205464			28091	protein-coding gene	gene with protein product							Standard	XR_112744		Approved		uc003khw.3	Q52LC2		ENST00000380167.4:c.194A>G	5.37:g.81608492A>G	ENSP00000369513:p.Glu65Gly		OREG0016689	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1207	ATP6AP1L_uc003khw.2_Missense_Mutation_p.E65G	p.E65G	NM_001017971	NP_001017971	Q52LC2	VAS1L_HUMAN			9	1519	+			65						Missense_Mutation	SNP	ENST00000380167.4	37	c.194A>G	CCDS34196.1	.	.	.	.	.	.	.	.	.	.	A	14.59	2.580311	0.46006	.	.	ENSG00000205464	ENST00000380167;ENST00000439350	.	.	.	5.68	5.68	0.88126	.	0.350600	0.29473	N	0.012050	T	0.59266	0.2181	M	0.83223	2.63	0.28525	N	0.912871	P	0.51933	0.949	P	0.46543	0.52	T	0.64681	-0.6350	9	0.54805	T	0.06	.	15.9389	0.79739	1.0:0.0:0.0:0.0	.	65	Q52LC2	VAS1L_HUMAN	G	65	.	ENSP00000369513:E65G	E	+	2	0	ATP6AP1L	81644248	0.997000	0.39634	0.911000	0.35937	0.061000	0.15899	2.292000	0.43549	2.160000	0.67779	0.533000	0.62120	GAG		PASS	0.448	ATP6AP1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369562.3	NM_001017971		120	119	120	119	---	---	---	---
GPR98	84059	broad.mit.edu	37	5	90025522	90025522	+	Missense_Mutation	SNP	A	A	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr5:90025522A>T	ENST00000405460.2	+	50	10586	c.10490A>T	c.(10489-10491)cAg>cTg	p.Q3497L		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	3497					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.Q3497L(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)		AGGTATTTTCAGTCTGTAGAT	0.378																																						uc003kju.2																			1	Substitution - Missense(1)		lung(1)	ovary(11)|central_nervous_system(3)|pancreas(2)	16						c.(10489-10491)CAG>CTG		G protein-coupled receptor 98 precursor							138.0	122.0	127.0					5																	90025522		1847	4099	5946	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.chr5:90025522A>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.10490A>T	5.37:g.90025522A>T	ENSP00000384582:p.Gln3497Leu					GPR98_uc003kjt.2_Missense_Mutation_p.Q1203L|GPR98_uc003kjv.2_Missense_Mutation_p.Q1097L	p.Q3497L	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)	50	10586	+		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)	3497			EAR 6.|Extracellular (Potential).		O75171|Q8TF58|Q9H0X5|Q9UL61	Missense_Mutation	SNP	ENST00000405460.2	37	c.10490A>T	CCDS47246.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	16.93|16.93	3.258029|3.258029	0.59321|0.59321	.|.	.|.	ENSG00000164199|ENSG00000164199	ENST00000405460;ENST00000296619|ENST00000509621	T|.	0.37235|.	1.21|.	5.88|5.88	5.88|5.88	0.94601|0.94601	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.72526|0.72526	0.3471|0.3471	M|M	0.66939|0.66939	2.045|2.045	0.80722|0.80722	D|D	1|1	D;D|.	0.58620|.	0.983;0.979|.	P;P|.	0.56700|.	0.804;0.747|.	T|T	0.72010|0.72010	-0.4419|-0.4419	10|5	0.62326|.	D|.	0.03|.	.|.	14.8658|14.8658	0.70416|0.70416	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	3497;3497|.	E7ETI5;Q8WXG9|.	.;GPR98_HUMAN|.	L|C	3497|1063	ENSP00000384582:Q3497L|.	ENSP00000296619:Q3497L|.	Q|S	+|+	2|1	0|0	GPR98|GPR98	90061278|90061278	1.000000|1.000000	0.71417|0.71417	0.947000|0.947000	0.38551|0.38551	0.068000|0.068000	0.16541|0.16541	6.763000|6.763000	0.74955|0.74955	2.253000|2.253000	0.74438|0.74438	0.455000|0.455000	0.32223|0.32223	CAG|AGT		PASS	0.378	GPR98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369993.2	NM_032119		17	24	17	24	---	---	---	---
ANKRD32	84250	broad.mit.edu	37	5	94022349	94022349	+	Missense_Mutation	SNP	G	G	C			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr5:94022349G>C	ENST00000265140.5	+	16	2466	c.2047G>C	c.(2047-2049)Gag>Cag	p.E683Q		NM_032290.3	NP_115666.2	Q9BQI6	ANR32_HUMAN	ankyrin repeat domain 32	683						centrosome (GO:0005813)|nucleus (GO:0005634)		p.E47Q(1)|p.E683Q(1)		NS(1)|breast(2)|endometrium(2)|large_intestine(1)|lung(3)|ovary(2)|prostate(1)|skin(1)	13		all_cancers(142;1.51e-09)|all_epithelial(76;4.68e-12)|all_lung(232;5.94e-05)|Ovarian(174;0.000953)|Lung NSC(167;0.00105)|Colorectal(57;0.122)|Lung SC(612;0.152)		all cancers(79;3.88e-18)		GTTTGTTGCAGAGGCAGTCTT	0.393																																						uc003kkr.3																			2	Substitution - Missense(2)		lung(2)	ovary(2)	2						c.(2047-2049)GAG>CAG		ankyrin repeat domain 32							148.0	148.0	148.0					5																	94022349		2203	4300	6503	SO:0001583	missense	84250							g.chr5:94022349G>C	AL136560	CCDS4071.2	5q15	2013-01-10			ENSG00000133302	ENSG00000133302		"""Ankyrin repeat domain containing"""	25408	protein-coding gene	gene with protein product			"""BRCT domain containing 1"""	BRCTD1			Standard	NM_032290		Approved	DKFZp761C121, DKFZp564C0469	uc003kkr.4	Q9BQI6	OTTHUMG00000121133	ENST00000265140.5:c.2047G>C	5.37:g.94022349G>C	ENSP00000265140:p.Glu683Gln					ANKRD32_uc003kks.2_Missense_Mutation_p.E47Q	p.E683Q	NM_032290	NP_115666	Q9BQI6	ANR32_HUMAN		all cancers(79;3.88e-18)	16	2127	+		all_cancers(142;1.51e-09)|all_epithelial(76;4.68e-12)|all_lung(232;5.94e-05)|Ovarian(174;0.000953)|Lung NSC(167;0.00105)|Colorectal(57;0.122)|Lung SC(612;0.152)	683					B4DMG4|Q3B7K4|Q6NSA5|Q6PHW9|Q9Y402	Missense_Mutation	SNP	ENST00000265140.5	37	c.2047G>C	CCDS4071.2	.	.	.	.	.	.	.	.	.	.	G	27.3	4.820831	0.90873	.	.	ENSG00000133302	ENST00000265140	T	0.55588	0.51	5.63	5.63	0.86233	.	0.179631	0.50627	D	0.000119	T	0.67915	0.2944	L	0.47716	1.5	0.45515	D	0.998477	D	0.89917	1.0	D	0.68765	0.96	T	0.68383	-0.5423	10	0.72032	D	0.01	.	19.6448	0.95771	0.0:0.0:1.0:0.0	.	683	Q9BQI6	ANR32_HUMAN	Q	683	ENSP00000265140:E683Q	ENSP00000265140:E683Q	E	+	1	0	ANKRD32	94048105	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.767000	0.85331	2.798000	0.96311	0.655000	0.94253	GAG		PASS	0.393	ANKRD32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241610.1	NM_032290		109	102	109	102	---	---	---	---
CAST	831	broad.mit.edu	37	5	96064905	96064905	+	Missense_Mutation	SNP	C	C	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr5:96064905C>T	ENST00000341926.3	+	5	340	c.178C>T	c.(178-180)Cac>Tac	p.H60Y	CAST_ENST00000348386.3_3'UTR|CAST_ENST00000504465.1_Missense_Mutation_p.H38Y|CAST_ENST00000508830.1_Missense_Mutation_p.H143Y|CAST_ENST00000338252.3_Missense_Mutation_p.H60Y|CAST_ENST00000395813.1_Missense_Mutation_p.H143Y|CAST_ENST00000508608.1_Missense_Mutation_p.H106Y|CAST_ENST00000359176.4_Intron|CAST_ENST00000509903.1_Missense_Mutation_p.H38Y|CAST_ENST00000395812.2_Intron|CAST_ENST00000325674.7_Missense_Mutation_p.H121Y|CAST_ENST00000511782.1_Missense_Mutation_p.H46Y|CAST_ENST00000511049.1_Missense_Mutation_p.H46Y|CAST_ENST00000309190.5_Missense_Mutation_p.H38Y|CAST_ENST00000510756.1_Missense_Mutation_p.H121Y			P20810	ICAL_HUMAN	calpastatin	60					negative regulation of endopeptidase activity (GO:0010951)|negative regulation of type B pancreatic cell apoptotic process (GO:2000675)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)	cysteine-type endopeptidase inhibitor activity (GO:0004869)|endopeptidase inhibitor activity (GO:0004866)|poly(A) RNA binding (GO:0044822)	p.H38Y(1)		breast(1)|central_nervous_system(4)|endometrium(2)|kidney(4)|large_intestine(3)|lung(5)|ovary(1)|skin(2)	22		all_cancers(142;5.27e-07)|all_epithelial(76;8.21e-10)|all_lung(232;0.000396)|Lung NSC(167;0.000539)|Ovarian(225;0.024)|Colorectal(57;0.0341)|Breast(839;0.244)		all cancers(79;6.85e-15)		GCCAAAAGAACACACAGAGGT	0.323																																						uc003klz.1																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(3)|ovary(1)|kidney(1)	5						c.(178-180)CAC>TAC		calpastatin isoform i							68.0	67.0	68.0					5																	96064905		2203	4300	6503	SO:0001583	missense	831						calcium-dependent cysteine-type endopeptidase inhibitor activity|protein binding	g.chr5:96064905C>T	AF327443	CCDS4082.1, CCDS54882.1, CCDS54883.1, CCDS75279.1	5q15	2012-09-20			ENSG00000153113	ENSG00000153113			1515	protein-coding gene	gene with protein product		114090				8340353, 14685690, 15820218	Standard	NM_173060		Approved		uc003klx.3	P20810	OTTHUMG00000128413	ENST00000341926.3:c.178C>T	5.37:g.96064905C>T	ENSP00000339914:p.His60Tyr					CAST_uc003klt.2_Missense_Mutation_p.H60Y|CAST_uc003klu.2_Missense_Mutation_p.H143Y|CAST_uc003klv.2_Missense_Mutation_p.H121Y|CAST_uc003klw.2_Intron|CAST_uc003klx.2_Intron|CAST_uc003kly.2_Missense_Mutation_p.H121Y|CAST_uc011cuo.1_Missense_Mutation_p.H106Y|CAST_uc011cup.1_Missense_Mutation_p.H38Y|CAST_uc011cuq.1_Intron|CAST_uc011cur.1_Missense_Mutation_p.H46Y|CAST_uc011cus.1_Missense_Mutation_p.H60Y|CAST_uc003kma.1_Intron|CAST_uc011cut.1_Missense_Mutation_p.H38Y|CAST_uc003kmb.2_Intron|CAST_uc003kmc.2_Missense_Mutation_p.H60Y|CAST_uc003kmd.2_Missense_Mutation_p.H38Y|CAST_uc003kme.2_Intron|CAST_uc003kmf.2_Missense_Mutation_p.H38Y	p.H60Y	NM_001042443	NP_001035908	P20810	ICAL_HUMAN		all cancers(79;6.85e-15)	5	340	+		all_cancers(142;5.27e-07)|all_epithelial(76;8.21e-10)|all_lung(232;0.000396)|Lung NSC(167;0.000539)|Ovarian(225;0.024)|Colorectal(57;0.0341)|Breast(839;0.244)	60					B7Z468|G5E946|G5E9D3|O95360|Q05DE8|Q7Z4K0|Q96D08|Q9H1Z5	Missense_Mutation	SNP	ENST00000341926.3	37	c.178C>T		.	.	.	.	.	.	.	.	.	.	C	13.06	2.124097	0.37533	.	.	ENSG00000153113	ENST00000505143;ENST00000338252;ENST00000508830;ENST00000511097;ENST00000395813;ENST00000325674;ENST00000510756;ENST00000506811;ENST00000508608;ENST00000341926;ENST00000511049;ENST00000309190;ENST00000510156;ENST00000504465;ENST00000509903;ENST00000511782;ENST00000508197	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.46819	0.86;2.21;2.21;4.3;2.21;2.25;2.25;2.25;2.2;4.3;2.21;2.2;2.31;2.21;2.21;0.91	4.62	2.64	0.31445	.	0.725201	0.13089	N	0.414693	T	0.56337	0.1978	L	0.60455	1.87	0.22253	N	0.999255	D;P;P;P;P;P;P;P;D	0.58268	0.961;0.94;0.818;0.889;0.889;0.952;0.886;0.933;0.982	P;B;B;P;P;P;B;P;P	0.56042	0.751;0.36;0.196;0.521;0.521;0.636;0.359;0.713;0.79	T	0.44832	-0.9302	10	0.59425	D	0.04	-2.0876	10.474	0.44655	0.0:0.5942:0.4058:0.0	.	38;38;106;38;60;121;121;143;60	E9PDE4;B7Z5T6;B7Z468;E9PCH5;P20810;P20810-5;E7ESM9;P20810-6;P20810-2	.;.;.;.;ICAL_HUMAN;.;.;.;.	Y	138;60;143;121;143;121;121;128;106;60;46;38;60;38;38;46;38	ENSP00000422957:H138Y;ENSP00000343421:H60Y;ENSP00000425721:H143Y;ENSP00000422951:H121Y;ENSP00000379158:H143Y;ENSP00000320319:H121Y;ENSP00000422176:H121Y;ENSP00000422677:H106Y;ENSP00000339914:H60Y;ENSP00000421130:H46Y;ENSP00000312523:H38Y;ENSP00000422325:H60Y;ENSP00000425670:H38Y;ENSP00000426946:H38Y;ENSP00000423638:H46Y;ENSP00000422831:H38Y	ENSP00000312523:H38Y	H	+	1	0	CAST	96090661	0.867000	0.29959	0.961000	0.40146	0.987000	0.75469	0.235000	0.17948	1.269000	0.44280	0.655000	0.94253	CAC		PASS	0.323	CAST-004	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000250199.2	NM_173062		26	38	26	38	---	---	---	---
SLCO6A1	133482	broad.mit.edu	37	5	101748803	101748803	+	Missense_Mutation	SNP	C	C	G			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr5:101748803C>G	ENST00000506729.1	-	9	1688	c.1517G>C	c.(1516-1518)tGt>tCt	p.C506S	SLCO6A1_ENST00000389019.3_Missense_Mutation_p.C444S|SLCO6A1_ENST00000513675.1_Missense_Mutation_p.C253S|SLCO6A1_ENST00000379810.1_Missense_Mutation_p.C253S|SLCO6A1_ENST00000379807.3_Missense_Mutation_p.C506S			Q86UG4	SO6A1_HUMAN	solute carrier organic anion transporter family, member 6A1	506	Kazal-like. {ECO:0000255|PROSITE- ProRule:PRU00798}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)	p.C506S(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(17)|lung(22)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	60		all_cancers(142;8e-09)|all_epithelial(76;2.83e-12)|Prostate(80;0.00125)|Colorectal(57;0.00342)|Ovarian(225;0.024)|Lung NSC(167;0.0259)|all_lung(232;0.0323)		Epithelial(69;1.47e-15)|COAD - Colon adenocarcinoma(37;0.0113)		TGAGCATCTACATTTTTCATT	0.333																																						uc003knn.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|skin(3)|central_nervous_system(1)	7						c.(1516-1518)TGT>TCT		solute carrier organic anion transporter family,							45.0	46.0	46.0					5																	101748803		2203	4293	6496	SO:0001583	missense	133482					integral to membrane|plasma membrane	transporter activity	g.chr5:101748803C>G	AF505657	CCDS34206.1, CCDS75282.1	5q21.2	2013-05-22			ENSG00000205359	ENSG00000205359		"""Solute carriers"""	23613	protein-coding gene	gene with protein product	"""cancer/testis antigen 48"""	613365					Standard	XM_005271874		Approved	OATP6A1, OATPY, MGC26949, CT48	uc003knp.3	Q86UG4	OTTHUMG00000162759	ENST00000506729.1:c.1517G>C	5.37:g.101748803C>G	ENSP00000421339:p.Cys506Ser					SLCO6A1_uc003kno.2_Missense_Mutation_p.C253S|SLCO6A1_uc003knp.2_Missense_Mutation_p.C506S|SLCO6A1_uc003knq.2_Missense_Mutation_p.C444S	p.C506S	NM_173488	NP_775759	Q86UG4	SO6A1_HUMAN		Epithelial(69;1.47e-15)|COAD - Colon adenocarcinoma(37;0.0113)	9	1689	-		all_cancers(142;8e-09)|all_epithelial(76;2.83e-12)|Prostate(80;0.00125)|Colorectal(57;0.00342)|Ovarian(225;0.024)|Lung NSC(167;0.0259)|all_lung(232;0.0323)	506			Extracellular (Potential).|Kazal-like.		A6NHC1|Q6ZMY5|Q86UV2|Q8IYU5	Missense_Mutation	SNP	ENST00000506729.1	37	c.1517G>C	CCDS34206.1	.	.	.	.	.	.	.	.	.	.	C	17.81	3.480252	0.63849	.	.	ENSG00000205359	ENST00000506729;ENST00000379807;ENST00000389019;ENST00000513675;ENST00000379810	T;T;T;T;T	0.65178	-0.14;-0.14;-0.14;-0.14;-0.14	5.25	5.25	0.73442	Major facilitator superfamily domain, general substrate transporter (1);	0.000000	0.64402	D	0.000001	D	0.87621	0.6223	H	0.98849	4.35	0.48830	D	0.999712	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.85130	0.975;0.997;0.99	D	0.92135	0.5715	10	0.87932	D	0	.	15.8626	0.79038	0.0:1.0:0.0:0.0	.	444;253;506	Q86UG4-2;C9J020;Q86UG4	.;.;SO6A1_HUMAN	S	506;506;444;253;253	ENSP00000421339:C506S;ENSP00000369135:C506S;ENSP00000373671:C444S;ENSP00000421990:C253S;ENSP00000369138:C253S	ENSP00000369135:C506S	C	-	2	0	SLCO6A1	101776702	0.999000	0.42202	0.564000	0.28396	0.046000	0.14306	4.586000	0.60984	2.720000	0.93068	0.655000	0.94253	TGT		PASS	0.333	SLCO6A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370335.1	NM_173488		42	45	42	45	---	---	---	---
SLCO6A1	133482	broad.mit.edu	37	5	101755672	101755672	+	Missense_Mutation	SNP	C	C	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr5:101755672C>A	ENST00000506729.1	-	8	1501	c.1330G>T	c.(1330-1332)Gtt>Ttt	p.V444F	SLCO6A1_ENST00000389019.3_Missense_Mutation_p.V382F|SLCO6A1_ENST00000513675.1_Intron|SLCO6A1_ENST00000514551.1_5'UTR|SLCO6A1_ENST00000379810.1_Intron|SLCO6A1_ENST00000379807.3_Missense_Mutation_p.V444F			Q86UG4	SO6A1_HUMAN	solute carrier organic anion transporter family, member 6A1	444						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)	p.V444F(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(17)|lung(22)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	60		all_cancers(142;8e-09)|all_epithelial(76;2.83e-12)|Prostate(80;0.00125)|Colorectal(57;0.00342)|Ovarian(225;0.024)|Lung NSC(167;0.0259)|all_lung(232;0.0323)		Epithelial(69;1.47e-15)|COAD - Colon adenocarcinoma(37;0.0113)		AATGTGGAAACAATGACACCT	0.353																																						uc003knn.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|skin(3)|central_nervous_system(1)	7						c.(1330-1332)GTT>TTT		solute carrier organic anion transporter family,							59.0	64.0	62.0					5																	101755672		2203	4300	6503	SO:0001583	missense	133482					integral to membrane|plasma membrane	transporter activity	g.chr5:101755672C>A	AF505657	CCDS34206.1, CCDS75282.1	5q21.2	2013-05-22			ENSG00000205359	ENSG00000205359		"""Solute carriers"""	23613	protein-coding gene	gene with protein product	"""cancer/testis antigen 48"""	613365					Standard	XM_005271874		Approved	OATP6A1, OATPY, MGC26949, CT48	uc003knp.3	Q86UG4	OTTHUMG00000162759	ENST00000506729.1:c.1330G>T	5.37:g.101755672C>A	ENSP00000421339:p.Val444Phe					SLCO6A1_uc003kno.2_Intron|SLCO6A1_uc003knp.2_Missense_Mutation_p.V444F|SLCO6A1_uc003knq.2_Missense_Mutation_p.V382F	p.V444F	NM_173488	NP_775759	Q86UG4	SO6A1_HUMAN		Epithelial(69;1.47e-15)|COAD - Colon adenocarcinoma(37;0.0113)	8	1502	-		all_cancers(142;8e-09)|all_epithelial(76;2.83e-12)|Prostate(80;0.00125)|Colorectal(57;0.00342)|Ovarian(225;0.024)|Lung NSC(167;0.0259)|all_lung(232;0.0323)	444			Helical; Name=8; (Potential).		A6NHC1|Q6ZMY5|Q86UV2|Q8IYU5	Missense_Mutation	SNP	ENST00000506729.1	37	c.1330G>T	CCDS34206.1	.	.	.	.	.	.	.	.	.	.	C	9.964	1.223591	0.22457	.	.	ENSG00000205359	ENST00000506729;ENST00000379807;ENST00000389019	T;T;T	0.49139	0.79;0.79;0.79	4.81	1.01	0.19927	Major facilitator superfamily domain, general substrate transporter (1);	1.392020	0.04815	N	0.435992	T	0.68778	0.3038	M	0.85777	2.775	0.09310	N	1	D;D	0.60160	0.979;0.987	P;P	0.62885	0.79;0.908	T	0.46952	-0.9154	10	0.87932	D	0	.	7.5794	0.27955	0.0:0.5244:0.0:0.4756	.	382;444	Q86UG4-2;Q86UG4	.;SO6A1_HUMAN	F	444;444;382	ENSP00000421339:V444F;ENSP00000369135:V444F;ENSP00000373671:V382F	ENSP00000369135:V444F	V	-	1	0	SLCO6A1	101783571	0.999000	0.42202	0.054000	0.19295	0.031000	0.12232	0.920000	0.28705	0.182000	0.20032	-0.150000	0.13652	GTT		PASS	0.353	SLCO6A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370335.1	NM_173488		31	48	31	48	---	---	---	---
GIN1	54826	broad.mit.edu	37	5	102423699	102423699	+	Missense_Mutation	SNP	G	G	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr5:102423699G>A	ENST00000399004.2	-	8	1566	c.1472C>T	c.(1471-1473)aCg>aTg	p.T491M	GIN1_ENST00000508629.1_3'UTR	NM_017676.2	NP_060146.2	Q9NXP7	GIN1_HUMAN	gypsy retrotransposon integrase 1	491					DNA integration (GO:0015074)		nucleic acid binding (GO:0003676)	p.T491M(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		all_cancers(142;3.23e-07)|all_epithelial(76;3.64e-10)|Prostate(80;0.00914)|Ovarian(225;0.0139)|Lung NSC(167;0.0212)|Colorectal(57;0.0249)|all_lung(232;0.0283)		Epithelial(69;3.57e-14)|COAD - Colon adenocarcinoma(37;0.00794)		AGAGATTTTCGTATTTCTATA	0.343																																						uc003koa.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(1471-1473)ACG>ATG		zinc finger, H2C2 domain containing							113.0	105.0	107.0					5																	102423699		1832	4086	5918	SO:0001583	missense	54826				DNA integration		DNA binding	g.chr5:102423699G>A	BC015325	CCDS43349.1	5q21.1	2008-02-11	2007-06-13	2007-06-13		ENSG00000145723			25959	protein-coding gene	gene with protein product	"""gypsy integrase 1"", ""Ty3/Gypsy integrase 1"""		"""zinc finger, H2C2 domain containing"""	ZH2C2		11470852	Standard	NM_017676		Approved	FLJ20125, GIN-1, TGIN1	uc003koa.1	Q9NXP7		ENST00000399004.2:c.1472C>T	5.37:g.102423699G>A	ENSP00000381970:p.Thr491Met					GIN1_uc003kob.1_Missense_Mutation_p.T344M|GIN1_uc003koc.1_3'UTR	p.T491M	NM_017676	NP_060146	Q9NXP7	GIN1_HUMAN		Epithelial(69;3.57e-14)|COAD - Colon adenocarcinoma(37;0.00794)	8	1554	-		all_cancers(142;3.23e-07)|all_epithelial(76;3.64e-10)|Prostate(80;0.00914)|Ovarian(225;0.0139)|Lung NSC(167;0.0212)|Colorectal(57;0.0249)|all_lung(232;0.0283)	491					B2RXF7|B4DIV4|Q6AI03|Q96BR2	Missense_Mutation	SNP	ENST00000399004.2	37	c.1472C>T	CCDS43349.1	.	.	.	.	.	.	.	.	.	.	G	9.649	1.140996	0.21205	.	.	ENSG00000145723	ENST00000399004	T	0.18338	2.22	5.64	4.76	0.60689	.	1.062550	0.07572	U	0.918705	T	0.10809	0.0264	N	0.08118	0	0.50313	D	0.999862	B	0.31968	0.349	B	0.28916	0.096	T	0.09164	-1.0687	10	0.59425	D	0.04	-28.7686	10.3062	0.43683	0.1661:0.0:0.8339:0.0	.	491	Q9NXP7	GIN1_HUMAN	M	491	ENSP00000381970:T491M	ENSP00000381970:T491M	T	-	2	0	GIN1	102451598	0.028000	0.19301	0.915000	0.36163	0.233000	0.25261	1.177000	0.31969	1.495000	0.48549	0.561000	0.74099	ACG		PASS	0.343	GIN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370478.3	NM_017676		37	105	37	105	---	---	---	---
STARD4	134429	broad.mit.edu	37	5	110835665	110835665	+	Silent	SNP	C	C	T	rs534000242		TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr5:110835665C>T	ENST00000296632.3	-	6	671	c.537G>A	c.(535-537)ggG>ggA	p.G179G	STARD4_ENST00000512160.1_3'UTR|STARD4_ENST00000511569.1_5'Flank	NM_139164.1	NP_631903.1	Q96DR4	STAR4_HUMAN	StAR-related lipid transfer (START) domain containing 4	179	START. {ECO:0000255|PROSITE- ProRule:PRU00197}.				lipid transport (GO:0006869)		lipid binding (GO:0008289)	p.G179G(1)		cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)	12		all_cancers(142;0.00259)|all_epithelial(76;8.32e-05)|Prostate(80;0.0115)|Colorectal(10;0.0959)|Ovarian(225;0.156)|all_lung(232;0.18)|Lung NSC(167;0.248)		OV - Ovarian serous cystadenocarcinoma(64;4.91e-09)|Epithelial(69;1.39e-08)|all cancers(49;2.34e-06)|COAD - Colon adenocarcinoma(37;0.049)|Colorectal(14;0.138)		GAGGAATCATCCCACGCAGAT	0.413													C|||	1	0.000199681	0.0	0.0014	5008	,	,		15671	0.0		0.0	False		,,,				2504	0.0					uc003kph.1																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(535-537)GGG>GGA		StAR-related lipid transfer (START) domain							160.0	150.0	154.0					5																	110835665		2202	4300	6502	SO:0001819	synonymous_variant	134429				lipid transport		lipid binding	g.chr5:110835665C>T	AF480299	CCDS4104.1	5q22	2011-09-12	2007-08-16		ENSG00000164211	ENSG00000164211		"""StAR-related lipid transfer (START) domain containing"""	18058	protein-coding gene	gene with protein product		607049	"""START domain containing 4, sterol regulated"""			12011452	Standard	NM_139164		Approved		uc003kph.1	Q96DR4	OTTHUMG00000128793	ENST00000296632.3:c.537G>A	5.37:g.110835665C>T						STARD4_uc010jbw.1_Silent_p.G81G|STARD4_uc010jbx.1_Silent_p.G81G|STARD4_uc003kpi.1_RNA	p.G179G	NM_139164	NP_631903	Q96DR4	STAR4_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;4.91e-09)|Epithelial(69;1.39e-08)|all cancers(49;2.34e-06)|COAD - Colon adenocarcinoma(37;0.049)|Colorectal(14;0.138)	6	621	-		all_cancers(142;0.00259)|all_epithelial(76;8.32e-05)|Prostate(80;0.0115)|Colorectal(10;0.0959)|Ovarian(225;0.156)|all_lung(232;0.18)|Lung NSC(167;0.248)	179			START.		Q86TN9	Silent	SNP	ENST00000296632.3	37	c.537G>A	CCDS4104.1																																																																																				PASS	0.413	STARD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250720.1	NM_139164		39	80	39	80	---	---	---	---
CEP120	153241	broad.mit.edu	37	5	122726941	122726941	+	Missense_Mutation	SNP	G	G	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr5:122726941G>A	ENST00000306467.5	-	7	1205	c.901C>T	c.(901-903)Cac>Tac	p.H301Y	CEP120_ENST00000328236.5_Missense_Mutation_p.H301Y|CEP120_ENST00000395431.2_Missense_Mutation_p.H301Y|CEP120_ENST00000306481.6_Missense_Mutation_p.H275Y			Q8N960	CE120_HUMAN	centrosomal protein 120kDa	301				H -> R (in Ref. 4; CAH10371). {ECO:0000305}.	astral microtubule organization (GO:0030953)|cerebral cortex development (GO:0021987)|interkinetic nuclear migration (GO:0022027)|neurogenesis (GO:0022008)|regulation of microtubule-based process (GO:0032886)|regulation of protein localization (GO:0032880)	centrosome (GO:0005813)|cytoplasm (GO:0005737)		p.H301Y(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	29						GTGACTGGGTGCTGGTTGATT	0.463																																						uc003ktk.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(901-903)CAC>TAC		coiled-coil domain containing 100							158.0	160.0	160.0					5																	122726941		1897	4114	6011	SO:0001583	missense	153241					centrosome		g.chr5:122726941G>A	AK095646	CCDS4134.2, CCDS54890.1	5q23.2	2014-02-20	2008-08-14	2008-08-14	ENSG00000168944	ENSG00000168944			26690	protein-coding gene	gene with protein product		613446	"""coiled-coil domain containing 100"""	CCDC100		17920017	Standard	NM_153223		Approved	FLJ36090	uc003ktk.3	Q8N960	OTTHUMG00000128922	ENST00000306467.5:c.901C>T	5.37:g.122726941G>A	ENSP00000303058:p.His301Tyr					CEP120_uc011cwq.1_Missense_Mutation_p.H110Y|CEP120_uc010jcz.1_Missense_Mutation_p.H275Y	p.H301Y	NM_153223	NP_694955	Q8N960	CE120_HUMAN			8	983	-			301	H -> R (in Ref. 4; CAH10371).				Q6AI52|Q6AW89|Q8IWB5|Q8N9Y0|Q8NDE8	Missense_Mutation	SNP	ENST00000306467.5	37	c.901C>T	CCDS4134.2	.	.	.	.	.	.	.	.	.	.	G	11.94	1.789165	0.31685	.	.	ENSG00000168944	ENST00000306467;ENST00000328236;ENST00000306481;ENST00000508442;ENST00000395431	T;T;T;T	0.45276	2.22;2.22;2.22;0.9	5.46	5.46	0.80206	.	0.715335	0.14192	N	0.335275	T	0.48169	0.1485	L	0.40543	1.245	0.32337	N	0.560223	B	0.29571	0.249	B	0.40165	0.321	T	0.57027	-0.7881	10	0.59425	D	0.04	-0.7605	19.6771	0.95939	0.0:0.0:1.0:0.0	.	301	Q8N960	CE120_HUMAN	Y	301;301;275;275;301	ENSP00000303058:H301Y;ENSP00000327504:H301Y;ENSP00000307419:H275Y;ENSP00000421620:H275Y	ENSP00000303058:H301Y	H	-	1	0	CEP120	122754840	0.131000	0.22433	0.928000	0.36995	0.892000	0.51952	2.699000	0.47077	2.732000	0.93576	0.655000	0.94253	CAC		PASS	0.463	CEP120-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250899.2	NM_153223		115	88	115	88	---	---	---	---
FBN2	2201	broad.mit.edu	37	5	127671679	127671679	+	Splice_Site	SNP	C	C	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr5:127671679C>A	ENST00000508053.1	-	34	4699		c.e34+1		FBN2_ENST00000508989.1_Splice_Site|FBN2_ENST00000262464.4_Splice_Site|FBN2_ENST00000507835.1_Splice_Site			P35556	FBN2_HUMAN	fibrillin 2						anatomical structure morphogenesis (GO:0009653)|bone trabecula formation (GO:0060346)|embryonic limb morphogenesis (GO:0030326)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|positive regulation of bone mineralization (GO:0030501)|positive regulation of osteoblast differentiation (GO:0045669)|sequestering of TGFbeta in extracellular matrix (GO:0035583)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|microfibril (GO:0001527)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)	p.?(2)		NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		TCTCCCCTTACCTGTACAGCC	0.458																																						uc003kuu.2																			2	Unknown(2)		lung(2)	ovary(8)|large_intestine(4)|pancreas(1)|kidney(1)|skin(1)	15						c.e28+1		fibrillin 2 precursor							71.0	62.0	65.0					5																	127671679		2203	4300	6503	SO:0001630	splice_region_variant	2201				bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent	g.chr5:127671679C>A	U03272	CCDS34222.1	5q23-q31	2008-08-01	2008-08-01			ENSG00000138829			3604	protein-coding gene	gene with protein product	"""fibrillin 5"""	612570	"""congenital contractural arachnodactyly"""	CCA		1852206, 8120105	Standard	NM_001999		Approved	DA9	uc003kuu.3	P35556		ENST00000508053.1:c.3724+1G>T	5.37:g.127671679C>A						FBN2_uc003kuv.2_Splice_Site_p.D1209_splice	p.D1242_splice	NM_001999	NP_001990	P35556	FBN2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)	28	4163	-		all_cancers(142;0.0216)|Prostate(80;0.0551)						B4DU01|Q59ES6	Splice_Site	SNP	ENST00000508053.1	37	c.3724_splice	CCDS34222.1	.	.	.	.	.	.	.	.	.	.	C	22.0	4.227088	0.79576	.	.	ENSG00000138829	ENST00000262464;ENST00000508053;ENST00000507835;ENST00000508989	.	.	.	4.7	4.7	0.59300	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.2019	0.89840	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	FBN2	127699578	1.000000	0.71417	0.997000	0.53966	0.886000	0.51366	7.609000	0.82925	2.614000	0.88457	0.467000	0.42956	.		PASS	0.458	FBN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371618.2	NM_001999	Intron	20	21	20	21	---	---	---	---
SLC27A6	28965	broad.mit.edu	37	5	128302173	128302173	+	Nonsense_Mutation	SNP	G	G	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr5:128302173G>T	ENST00000262462.4	+	1	1353	c.343G>T	c.(343-345)Gag>Tag	p.E115*	SLC27A6_ENST00000395266.1_Nonsense_Mutation_p.E115*|SLC27A6_ENST00000506176.1_Nonsense_Mutation_p.E115*			Q9Y2P4	S27A6_HUMAN	solute carrier family 27 (fatty acid transporter), member 6	115					long-chain fatty acid metabolic process (GO:0001676)|long-chain fatty acid transport (GO:0015909)|transmembrane transport (GO:0055085)|very long-chain fatty acid metabolic process (GO:0000038)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	long-chain fatty acid-CoA ligase activity (GO:0004467)|nucleotide binding (GO:0000166)|very long-chain fatty acid-CoA ligase activity (GO:0031957)	p.E115*(1)		NS(2)|endometrium(1)|kidney(3)|large_intestine(11)|liver(1)|lung(20)|prostate(1)|skin(4)|stomach(1)	44		all_cancers(142;0.0483)|Prostate(80;0.055)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Epithelial(69;0.171)|OV - Ovarian serous cystadenocarcinoma(64;0.186)		GATGAGCAATGAGCCGGACTT	0.547																																						uc003kuy.2																			1	Substitution - Nonsense(1)		lung(1)		0						c.(343-345)GAG>TAG		solute carrier family 27 (fatty acid							84.0	65.0	71.0					5																	128302173		2203	4300	6503	SO:0001587	stop_gained	28965				long-chain fatty acid transport|transmembrane transport|very long-chain fatty acid metabolic process	integral to membrane|sarcolemma	fatty acid transporter activity|long-chain fatty acid-CoA ligase activity|nucleotide binding	g.chr5:128302173G>T	AF064254	CCDS4145.1	5q23.3	2013-05-22			ENSG00000113396	ENSG00000113396		"""Acyl-CoA synthetase family"", ""Solute carriers"""	11000	protein-coding gene	gene with protein product	"""fatty-acid-Coenzyme A ligase, very long-chain 2"""	604196				12556534, 10479480	Standard	XM_005271967		Approved	FATP6, VLCS-H1, FACVL2, ACSVL2	uc003kuy.3	Q9Y2P4	OTTHUMG00000128991	ENST00000262462.4:c.343G>T	5.37:g.128302173G>T	ENSP00000262462:p.Glu115*					SLC27A6_uc003kuz.2_Nonsense_Mutation_p.E115*	p.E115*	NM_014031	NP_054750	Q9Y2P4	S27A6_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Epithelial(69;0.171)|OV - Ovarian serous cystadenocarcinoma(64;0.186)	2	739	+		all_cancers(142;0.0483)|Prostate(80;0.055)	115					Q6IAM5|Q7Z6E6|Q86YF6	Nonsense_Mutation	SNP	ENST00000262462.4	37	c.343G>T	CCDS4145.1	.	.	.	.	.	.	.	.	.	.	G	42	9.312441	0.99133	.	.	ENSG00000113396	ENST00000262462;ENST00000395266;ENST00000506176	.	.	.	4.18	4.18	0.49190	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.49607	T	0.09	-12.4586	17.8141	0.88625	0.0:0.0:1.0:0.0	.	.	.	.	X	115	.	ENSP00000262462:E115X	E	+	1	0	SLC27A6	128330072	1.000000	0.71417	1.000000	0.80357	0.942000	0.58702	5.841000	0.69409	2.623000	0.88846	0.561000	0.74099	GAG		PASS	0.547	SLC27A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250980.1	NM_014031		19	26	19	26	---	---	---	---
PITX1	5307	broad.mit.edu	37	5	134364975	134364975	+	Missense_Mutation	SNP	G	G	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr5:134364975G>T	ENST00000265340.7	-	3	855	c.439C>A	c.(439-441)Cgc>Agc	p.R147S	PITX1_ENST00000506438.1_Missense_Mutation_p.R147S	NM_002653.4	NP_002644.4	P78337	PITX1_HUMAN	paired-like homeodomain 1	147	Interacts with PIT-1. {ECO:0000250}.				anatomical structure morphogenesis (GO:0009653)|branchiomeric skeletal muscle development (GO:0014707)|cartilage development (GO:0051216)|embryonic hindlimb morphogenesis (GO:0035116)|myoblast fate commitment (GO:0048625)|pituitary gland development (GO:0021983)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)	p.R147S(1)		central_nervous_system(1)|cervix(3)|endometrium(3)|large_intestine(1)|lung(5)|ovary(1)	14			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)	READ - Rectum adenocarcinoma(2;0.0607)		TTACGCTCGCGCTTACGCCAC	0.687																																						uc010jea.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(439-441)CGC>AGC		paired-like homeodomain transcription factor 1							45.0	50.0	48.0					5																	134364975		2203	4300	6503	SO:0001583	missense	5307					nucleolus	sequence-specific DNA binding	g.chr5:134364975G>T	AF009648	CCDS4182.1	5q31.1	2011-06-20	2007-07-12		ENSG00000069011	ENSG00000069011		"""Homeoboxes / PRD class"""	9004	protein-coding gene	gene with protein product		602149	"""paired-like homeodomain transcription factor 1"""	BFT		9337397, 9070926	Standard	NM_002653		Approved	PTX1, POTX	uc010jea.3	P78337	OTTHUMG00000149983	ENST00000265340.7:c.439C>A	5.37:g.134364975G>T	ENSP00000265340:p.Arg147Ser					PITX1_uc011cxy.1_Missense_Mutation_p.R147S	p.R147S	NM_002653	NP_002644	P78337	PITX1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)	READ - Rectum adenocarcinoma(2;0.0607)	3	832	-			147			Homeobox.|Interacts with PIT-1 (By similarity).		A8K3M0|D3DQB0|O14677|O60425|Q9BTI5	Missense_Mutation	SNP	ENST00000265340.7	37	c.439C>A	CCDS4182.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	18.43|18.43	3.621517|3.621517	0.66787|0.66787	.|.	.|.	ENSG00000069011|ENSG00000069011	ENST00000265340;ENST00000506438|ENST00000503586	D;D|.	0.95756|.	-3.8;-3.8|.	4.38|4.38	3.49|3.49	0.39957|0.39957	Homeodomain-related (1);Homeobox (2);Homeodomain-like (1);|.	0.057479|.	0.64402|.	D|.	0.000003|.	T|T	0.75064|0.75064	0.3799|0.3799	M|M	0.85462|0.85462	2.755|2.755	0.80722|0.80722	D|D	1|1	D|.	0.64830|.	0.994|.	P|.	0.55011|.	0.766|.	T|T	0.75861|0.75861	-0.3168|-0.3168	10|5	0.87932|.	D|.	0|.	.|.	10.9317|10.9317	0.47222|0.47222	0.0:0.0:0.662:0.338|0.0:0.0:0.662:0.338	.|.	147|.	P78337|.	PITX1_HUMAN|.	S|R	147|187	ENSP00000265340:R147S;ENSP00000427542:R147S|.	ENSP00000265340:R147S|.	R|S	-|-	1|3	0|2	PITX1|PITX1	134392874|134392874	1.000000|1.000000	0.71417|0.71417	0.994000|0.994000	0.49952|0.49952	0.641000|0.641000	0.38312|0.38312	3.145000|3.145000	0.50623|0.50623	0.799000|0.799000	0.34018|0.34018	0.313000|0.313000	0.20887|0.20887	CGC|AGC		PASS	0.687	PITX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251195.3			45	56	45	56	---	---	---	---
CDC23	8697	broad.mit.edu	37	5	137542257	137542257	+	Silent	SNP	C	C	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr5:137542257C>A	ENST00000394886.2	-	3	381	c.351G>T	c.(349-351)ctG>ctT	p.L117L	CDC23_ENST00000394884.3_Silent_p.L117L|CDC23_ENST00000505120.1_Missense_Mutation_p.C116F	NM_004661.3	NP_004652.2	Q9UJX2	CDC23_HUMAN	cell division cycle 23	117					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|mitotic cell cycle (GO:0000278)|mitotic metaphase plate congression (GO:0007080)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein K11-linked ubiquitination (GO:0070979)|regulation of exit from mitosis (GO:0007096)|regulation of mitotic metaphase/anaphase transition (GO:0030071)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|ubiquitin-dependent protein catabolic process (GO:0006511)	anaphase-promoting complex (GO:0005680)|cytosol (GO:0005829)|intracellular (GO:0005622)|nucleoplasm (GO:0005654)	ubiquitin-protein transferase activity (GO:0004842)	p.L111L(2)		autonomic_ganglia(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(6)|prostate(2)|skin(1)	23			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)			AATACATATACAGAAAATAGG	0.393																																						uc003lcl.2																			2	Substitution - coding silent(2)		large_intestine(1)|lung(1)		0						c.(349-351)CTG>CTT		cell division cycle protein 23							71.0	71.0	71.0					5																	137542257		2203	4300	6503	SO:0001819	synonymous_variant	8697				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|G1 phase of mitotic cell cycle|mitotic cell cycle spindle assembly checkpoint|mitotic metaphase plate congression|mitotic metaphase/anaphase transition|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 K11-linked ubiquitination|regulation of exit from mitosis	anaphase-promoting complex|cytosol|nucleoplasm	binding|ubiquitin-protein ligase activity	g.chr5:137542257C>A	AF053977	CCDS4200.2	5q31	2013-01-17	2013-01-17		ENSG00000094880	ENSG00000094880		"""Anaphase promoting complex subunits"", ""Tetratricopeptide (TTC) repeat domain containing"""	1724	protein-coding gene	gene with protein product	"""anaphase promoting complex subunit 8"""	603462	"""CDC23 (cell division cycle 23, yeast, homolog)"", ""cell division cycle 23 homolog (S. cerevisiae)"""			9790767	Standard	NM_004661		Approved	APC8, ANAPC8, CUT23	uc003lcl.3	Q9UJX2	OTTHUMG00000129198	ENST00000394886.2:c.351G>T	5.37:g.137542257C>A						CDC23_uc003lcm.1_Silent_p.L117L	p.L117L	NM_004661	NP_004652	Q9UJX2	CDC23_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)		3	382	-			117					A8K6E5|B4E3A2|B7WP05|D3DQB7|O75433|Q53FN2|Q9BS73	Silent	SNP	ENST00000394886.2	37	c.351G>T	CCDS4200.2	.	.	.	.	.	.	.	.	.	.	C	14.38	2.517741	0.44763	.	.	ENSG00000094880	ENST00000505120	T	0.36340	1.26	5.96	0.881	0.19166	.	.	.	.	.	T	0.41003	0.1140	.	.	.	0.26996	N	0.965013	.	.	.	.	.	.	T	0.37957	-0.9683	6	0.87932	D	0	-10.1168	10.3983	0.44214	0.0:0.5917:0.0:0.4083	.	.	.	.	F	116	ENSP00000423704:C116F	ENSP00000422505:C93F	C	-	2	0	CDC23	137570156	0.803000	0.28956	0.989000	0.46669	0.975000	0.68041	-0.059000	0.11731	-0.127000	0.11661	-0.312000	0.09012	TGT		PASS	0.393	CDC23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251275.2			58	44	58	44	---	---	---	---
PCDHA1	56147	broad.mit.edu	37	5	140166549	140166549	+	Missense_Mutation	SNP	C	C	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr5:140166549C>T	ENST00000504120.2	+	1	674	c.674C>T	c.(673-675)aCa>aTa	p.T225I	PCDHA1_ENST00000394633.3_Missense_Mutation_p.T225I|PCDHA1_ENST00000378133.3_Missense_Mutation_p.T225I	NM_018900.2	NP_061723.1	Q9Y5I3	PCDA1_HUMAN	protocadherin alpha 1	225	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.T225I(2)		breast(3)|endometrium(3)|kidney(2)|large_intestine(13)|lung(34)|prostate(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(3)	70			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTGCAAGGTACAGTTGAGCTG	0.463																																						uc003lhb.2																			2	Substitution - Missense(2)		lung(2)	skin(1)	1						c.(673-675)ACA>ATA		protocadherin alpha 1 isoform 1 precursor							80.0	81.0	81.0					5																	140166549		2203	4300	6503	SO:0001583	missense	56147				homophilic cell adhesion|nervous system development	extracellular region|integral to plasma membrane	calcium ion binding|protein binding	g.chr5:140166549C>T	AF152479	CCDS54912.1, CCDS54913.1	5q31	2010-11-26				ENSG00000204970		"""Cadherins / Protocadherins : Clustered"""	8663	other	complex locus constituent	"""KIAA0345-like 13"""	606307				10380929	Standard	NM_018900		Approved			Q9Y5I3		ENST00000504120.2:c.674C>T	5.37:g.140166549C>T	ENSP00000420840:p.Thr225Ile					PCDHA1_uc003lha.2_Missense_Mutation_p.T225I|PCDHA1_uc003lgz.2_Missense_Mutation_p.T225I	p.T225I	NM_018900	NP_061723	Q9Y5I3	PCDA1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	674	+			225			Cadherin 2.|Extracellular (Potential).		O75288|Q9NRT7	Missense_Mutation	SNP	ENST00000504120.2	37	c.674C>T	CCDS54913.1	.	.	.	.	.	.	.	.	.	.	c	12.82	2.053905	0.36277	.	.	ENSG00000204970	ENST00000504120;ENST00000394633;ENST00000378133	T;T;T	0.01821	4.62;4.62;4.62	4.19	1.22	0.21188	Cadherin (4);Cadherin-like (1);	0.323386	0.21860	U	0.068046	T	0.10208	0.0250	H	0.95712	3.71	0.09310	N	1	P;P;P	0.44578	0.591;0.838;0.762	P;P;B	0.53593	0.73;0.501;0.227	T	0.02829	-1.1105	10	0.72032	D	0.01	.	9.3635	0.38210	0.0:0.652:0.2706:0.0774	.	225;225;225	Q9Y5I3;Q9Y5I3-2;Q9Y5I3-3	PCDA1_HUMAN;.;.	I	225	ENSP00000420840:T225I;ENSP00000378129:T225I;ENSP00000367373:T225I	ENSP00000367373:T225I	T	+	2	0	PCDHA1	140146733	0.035000	0.19736	0.000000	0.03702	0.471000	0.32888	1.752000	0.38349	0.008000	0.14787	0.650000	0.86243	ACA		PASS	0.463	PCDHA1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000389127.1	NM_018900		50	39	50	39	---	---	---	---
PCDHA1	56147	broad.mit.edu	37	5	140166551	140166551	+	Missense_Mutation	SNP	G	G	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr5:140166551G>A	ENST00000504120.2	+	1	676	c.676G>A	c.(676-678)Gtt>Att	p.V226I	PCDHA1_ENST00000394633.3_Missense_Mutation_p.V226I|PCDHA1_ENST00000378133.3_Missense_Mutation_p.V226I	NM_018900.2	NP_061723.1	Q9Y5I3	PCDA1_HUMAN	protocadherin alpha 1	226	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.V226I(2)		breast(3)|endometrium(3)|kidney(2)|large_intestine(13)|lung(34)|prostate(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(3)	70			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCAAGGTACAGTTGAGCTGCT	0.463																																						uc003lhb.2																			2	Substitution - Missense(2)		lung(2)	skin(1)	1						c.(676-678)GTT>ATT		protocadherin alpha 1 isoform 1 precursor							81.0	82.0	82.0					5																	140166551		2203	4300	6503	SO:0001583	missense	56147				homophilic cell adhesion|nervous system development	extracellular region|integral to plasma membrane	calcium ion binding|protein binding	g.chr5:140166551G>A	AF152479	CCDS54912.1, CCDS54913.1	5q31	2010-11-26				ENSG00000204970		"""Cadherins / Protocadherins : Clustered"""	8663	other	complex locus constituent	"""KIAA0345-like 13"""	606307				10380929	Standard	NM_018900		Approved			Q9Y5I3		ENST00000504120.2:c.676G>A	5.37:g.140166551G>A	ENSP00000420840:p.Val226Ile					PCDHA1_uc003lha.2_Missense_Mutation_p.V226I|PCDHA1_uc003lgz.2_Missense_Mutation_p.V226I	p.V226I	NM_018900	NP_061723	Q9Y5I3	PCDA1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	676	+			226			Cadherin 2.|Extracellular (Potential).		O75288|Q9NRT7	Missense_Mutation	SNP	ENST00000504120.2	37	c.676G>A	CCDS54913.1	.	.	.	.	.	.	.	.	.	.	g	9.189	1.025529	0.19512	.	.	ENSG00000204970	ENST00000504120;ENST00000394633;ENST00000378133	T;T;T	0.01745	4.66;4.66;4.66	4.19	3.3	0.37823	Cadherin (4);Cadherin-like (1);	0.192086	0.24889	U	0.034787	T	0.04003	0.0112	M	0.72118	2.19	0.09310	N	1	B;B;P	0.34815	0.127;0.35;0.47	B;B;B	0.41813	0.367;0.214;0.149	T	0.16630	-1.0396	10	0.62326	D	0.03	.	7.9691	0.30117	0.0868:0.1626:0.7506:0.0	.	226;226;226	Q9Y5I3;Q9Y5I3-2;Q9Y5I3-3	PCDA1_HUMAN;.;.	I	226	ENSP00000420840:V226I;ENSP00000378129:V226I;ENSP00000367373:V226I	ENSP00000367373:V226I	V	+	1	0	PCDHA1	140146735	0.053000	0.20554	0.004000	0.12327	0.458000	0.32498	2.343000	0.44001	0.868000	0.35678	-0.182000	0.12963	GTT		PASS	0.463	PCDHA1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000389127.1	NM_018900		50	40	50	40	---	---	---	---
PCDHA1	56147	broad.mit.edu	37	5	140167336	140167336	+	Missense_Mutation	SNP	C	C	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr5:140167336C>A	ENST00000504120.2	+	1	1461	c.1461C>A	c.(1459-1461)aaC>aaA	p.N487K	PCDHA1_ENST00000394633.3_Missense_Mutation_p.N487K|PCDHA1_ENST00000378133.3_Missense_Mutation_p.N487K	NM_018900.2	NP_061723.1	Q9Y5I3	PCDA1_HUMAN	protocadherin alpha 1	487	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.N487K(2)		breast(3)|endometrium(3)|kidney(2)|large_intestine(13)|lung(34)|prostate(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(3)	70			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGCAGGAGAACGCGCTGGTGT	0.657																																						uc003lhb.2																			2	Substitution - Missense(2)		lung(2)	skin(1)	1						c.(1459-1461)AAC>AAA		protocadherin alpha 1 isoform 1 precursor							68.0	73.0	71.0					5																	140167336		2203	4299	6502	SO:0001583	missense	56147				homophilic cell adhesion|nervous system development	extracellular region|integral to plasma membrane	calcium ion binding|protein binding	g.chr5:140167336C>A	AF152479	CCDS54912.1, CCDS54913.1	5q31	2010-11-26				ENSG00000204970		"""Cadherins / Protocadherins : Clustered"""	8663	other	complex locus constituent	"""KIAA0345-like 13"""	606307				10380929	Standard	NM_018900		Approved			Q9Y5I3		ENST00000504120.2:c.1461C>A	5.37:g.140167336C>A	ENSP00000420840:p.Asn487Lys					PCDHA1_uc003lha.2_Missense_Mutation_p.N487K|PCDHA1_uc003lgz.2_Missense_Mutation_p.N487K	p.N487K	NM_018900	NP_061723	Q9Y5I3	PCDA1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1461	+			487			Cadherin 5.|Extracellular (Potential).		O75288|Q9NRT7	Missense_Mutation	SNP	ENST00000504120.2	37	c.1461C>A	CCDS54913.1	.	.	.	.	.	.	.	.	.	.	N	12.03	1.814823	0.32053	.	.	ENSG00000204970	ENST00000504120;ENST00000394633;ENST00000378133	T;T;T	0.59906	0.23;0.23;0.23	3.69	0.781	0.18561	Cadherin (4);Cadherin-like (1);	0.000000	0.44902	U	0.000416	T	0.79143	0.4396	H	0.94620	3.56	0.30751	N	0.745143	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.999;1.0	T	0.77915	-0.2409	10	0.87932	D	0	.	9.9249	0.41485	0.0:0.5866:0.0:0.4134	.	487;487;487	Q9Y5I3;Q9Y5I3-2;Q9Y5I3-3	PCDA1_HUMAN;.;.	K	487	ENSP00000420840:N487K;ENSP00000378129:N487K;ENSP00000367373:N487K	ENSP00000367373:N487K	N	+	3	2	PCDHA1	140147520	0.959000	0.32827	0.998000	0.56505	0.219000	0.24729	0.085000	0.14912	-0.088000	0.12506	-1.169000	0.01745	AAC		PASS	0.657	PCDHA1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000389127.1	NM_018900		48	51	48	51	---	---	---	---
PCDHA2	56146	broad.mit.edu	37	5	140175926	140175926	+	Missense_Mutation	SNP	G	G	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr5:140175926G>T	ENST00000526136.1	+	1	1377	c.1377G>T	c.(1375-1377)gaG>gaT	p.E459D	PCDHA1_ENST00000394633.3_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000378132.1_Missense_Mutation_p.E459D|PCDHA2_ENST00000520672.2_Missense_Mutation_p.E459D	NM_018905.2	NP_061728.1	Q9Y5H9	PCDA2_HUMAN	protocadherin alpha 2	459	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)	p.E459D(2)		NS(1)|breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(16)|lung(26)|ovary(4)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)	71			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CACAGCCTGAGTACACAGTAT	0.652																																						uc003lhd.2																			2	Substitution - Missense(2)		lung(2)	ovary(4)	4						c.(1375-1377)GAG>GAT		protocadherin alpha 2 isoform 1 precursor							73.0	75.0	75.0					5																	140175926		2203	4300	6503	SO:0001583	missense	56146				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding|protein binding	g.chr5:140175926G>T	AF152480	CCDS54914.1, CCDS64269.1	5q31	2010-11-26				ENSG00000204969		"""Cadherins / Protocadherins : Clustered"""	8668	other	complex locus constituent	"""KIAA0345-like 12"""	606308				10380929	Standard	NM_018905		Approved			Q9Y5H9		ENST00000526136.1:c.1377G>T	5.37:g.140175926G>T	ENSP00000431748:p.Glu459Asp					PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhc.1_Missense_Mutation_p.E459D|PCDHA2_uc011czy.1_Missense_Mutation_p.E459D	p.E459D	NM_018905	NP_061728	Q9Y5H9	PCDA2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1483	+			459			Cadherin 5.|Extracellular (Potential).		O75287|Q9BTV3	Missense_Mutation	SNP	ENST00000526136.1	37	c.1377G>T	CCDS54914.1	.	.	.	.	.	.	.	.	.	.	g	7.130	0.579658	0.13686	.	.	ENSG00000204969	ENST00000520672;ENST00000378132;ENST00000526136	T;T;T	0.61510	0.1;0.1;0.1	3.98	1.01	0.19927	Cadherin (3);Cadherin-like (1);	0.713088	0.11217	U	0.587157	T	0.45875	0.1364	L	0.41027	1.25	0.09310	N	1	B;B;B	0.20261	0.043;0.014;0.043	B;B;B	0.27608	0.081;0.065;0.081	T	0.40961	-0.9535	10	0.44086	T	0.13	.	5.6156	0.17430	0.351:0.2084:0.4407:0.0	.	459;459;459	Q9Y5H9-3;Q9Y5H9;Q9Y5H9-2	.;PCDA2_HUMAN;.	D	459	ENSP00000430584:E459D;ENSP00000367372:E459D;ENSP00000431748:E459D	ENSP00000367372:E459D	E	+	3	2	PCDHA2	140156110	0.000000	0.05858	1.000000	0.80357	0.626000	0.37791	-0.812000	0.04496	0.252000	0.21531	-0.145000	0.13849	GAG		PASS	0.652	PCDHA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372877.3	NM_018905		54	49	54	49	---	---	---	---
PCDHA4	56144	broad.mit.edu	37	5	140188024	140188024	+	Missense_Mutation	SNP	G	G	T	rs372913069		TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr5:140188024G>T	ENST00000530339.1	+	1	1252	c.1252G>T	c.(1252-1254)Gtg>Ttg	p.V418L	PCDHA1_ENST00000394633.3_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000512229.2_Missense_Mutation_p.V418L|PCDHA2_ENST00000526136.1_Intron|PCDHA4_ENST00000356878.4_Missense_Mutation_p.V418L	NM_018907.2	NP_061730.1	Q9UN74	PCDA4_HUMAN	protocadherin alpha 4	418	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)	p.V418L(2)|p.V418M(2)		breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(6)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCGCGAGAGCGTGTCAGCCTA	0.612																																						uc003lhi.2																			4	Substitution - Missense(4)		lung(2)|pancreas(2)	ovary(4)|skin(2)	6						c.(1252-1254)GTG>TTG		protocadherin alpha 4 isoform 1 precursor							154.0	145.0	148.0					5																	140188024		2203	4300	6503	SO:0001583	missense	56144				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding	g.chr5:140188024G>T	AF152482	CCDS54916.1	5q31	2010-11-26				ENSG00000204967		"""Cadherins / Protocadherins : Clustered"""	8670	other	complex locus constituent	"""ortholog of mouse CNR1, KIAA0345-like 10"""	606310				10380929, 10662547	Standard	NM_018907		Approved	CNR1, CRNR1, PCDH-ALPHA4, CNRN1		Q9UN74		ENST00000530339.1:c.1252G>T	5.37:g.140188024G>T	ENSP00000435300:p.Val418Leu					PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhh.1_Missense_Mutation_p.V418L|PCDHA4_uc011daa.1_Missense_Mutation_p.V418L	p.V418L	NM_018907	NP_061730	Q9UN74	PCDA4_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1353	+			418			Cadherin 4.|Extracellular (Potential).		O75285|Q2M253	Missense_Mutation	SNP	ENST00000530339.1	37	c.1252G>T	CCDS54916.1	.	.	.	.	.	.	.	.	.	.	g	3.593	-0.083164	0.07141	.	.	ENSG00000204967	ENST00000512229;ENST00000356878;ENST00000530339	T;T;T	0.51071	0.72;0.72;0.72	4.5	-1.66	0.08265	Cadherin (4);Cadherin-like (1);	0.446692	0.16152	U	0.227205	T	0.32823	0.0842	L	0.31845	0.965	0.09310	N	1	B;B;B	0.22480	0.012;0.04;0.07	B;B;B	0.30251	0.054;0.113;0.113	T	0.27640	-1.0068	10	0.48119	T	0.1	.	6.6379	0.22893	0.4802:0.2168:0.303:0.0	.	418;418;418	Q9UN74-2;Q9UN74;D6RA20	.;PCDA4_HUMAN;.	L	418	ENSP00000423470:V418L;ENSP00000349344:V418L;ENSP00000435300:V418L	ENSP00000349344:V418L	V	+	1	0	PCDHA4	140168208	0.000000	0.05858	0.000000	0.03702	0.154000	0.21943	-0.509000	0.06336	-0.258000	0.09446	-0.233000	0.12211	GTG		PASS	0.612	PCDHA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372864.2	NM_018907		84	96	84	96	---	---	---	---
PCDHA5	56143	broad.mit.edu	37	5	140202727	140202727	+	Missense_Mutation	SNP	A	A	G			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr5:140202727A>G	ENST00000529859.1	+	1	1367	c.1367A>G	c.(1366-1368)cAg>cGg	p.Q456R	PCDHA5_ENST00000529619.1_Missense_Mutation_p.Q456R|PCDHA1_ENST00000394633.3_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000378126.3_Missense_Mutation_p.Q456R|PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA2_ENST00000526136.1_Intron	NM_018908.2	NP_061731.1	Q9Y5H7	PCDA5_HUMAN	protocadherin alpha 5	456	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)	p.Q456R(2)		NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(8)|liver(1)|lung(22)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(3)	60			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCGTTCGCGCAGCCCCAGTAT	0.677																																						uc003lhl.2																			2	Substitution - Missense(2)		lung(2)	ovary(1)|breast(1)|skin(1)	3						c.(1366-1368)CAG>CGG		protocadherin alpha 5 isoform 1 precursor							71.0	73.0	73.0					5																	140202727		2203	4300	6503	SO:0001583	missense	56143				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding|protein binding	g.chr5:140202727A>G	AF152483	CCDS54917.1	5q31	2010-11-26				ENSG00000204965		"""Cadherins / Protocadherins : Clustered"""	8671	other	complex locus constituent	"""ortholog of mouse CNR6"", ""KIAA0345-like 9"""	606311		CNRS6		10380929, 10662547	Standard	NM_018908		Approved	CNR6, CRNR6, CNRN6, PCDH-ALPHA5		Q9Y5H7		ENST00000529859.1:c.1367A>G	5.37:g.140202727A>G	ENSP00000436557:p.Gln456Arg					PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Missense_Mutation_p.Q456R|PCDHA5_uc003lhj.1_Missense_Mutation_p.Q456R	p.Q456R	NM_018908	NP_061731	Q9Y5H7	PCDA5_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1367	+			456			Extracellular (Potential).|Cadherin 5.		O75284|Q8N4R3	Missense_Mutation	SNP	ENST00000529859.1	37	c.1367A>G	CCDS54917.1	.	.	.	.	.	.	.	.	.	.	A	11.76	1.735949	0.30774	.	.	ENSG00000204965	ENST00000529619;ENST00000529859;ENST00000378126	T;T;T	0.61859	0.07;0.07;0.07	3.86	3.86	0.44501	Cadherin (3);Cadherin-like (1);	.	.	.	.	T	0.67655	0.2916	M	0.79805	2.47	0.09310	N	1	P;P;P	0.40266	0.587;0.71;0.71	P;B;B	0.46419	0.516;0.315;0.315	T	0.62553	-0.6830	9	0.72032	D	0.01	.	13.0038	0.58692	1.0:0.0:0.0:0.0	.	456;456;456	Q9Y5H7;Q9Y5H7-3;Q9Y5H7-2	PCDA5_HUMAN;.;.	R	456	ENSP00000433416:Q456R;ENSP00000436557:Q456R;ENSP00000367366:Q456R	ENSP00000367366:Q456R	Q	+	2	0	PCDHA5	140182911	0.004000	0.15560	0.994000	0.49952	0.361000	0.29550	2.253000	0.43205	1.520000	0.48965	0.378000	0.23410	CAG		PASS	0.677	PCDHA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372883.2	NM_018908		55	59	55	59	---	---	---	---
PCDHA12	56137	broad.mit.edu	37	5	140256677	140256677	+	Silent	SNP	C	C	G	rs200462899	byFrequency	TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr5:140256677C>G	ENST00000398631.2	+	1	1620	c.1620C>G	c.(1618-1620)gcC>gcG	p.A540A	PCDHA7_ENST00000525929.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA1_ENST00000394633.3_Intron	NM_018903.2|NM_031864.2	NP_061726.1|NP_114070.1	Q9UN75	PCDAC_HUMAN	protocadherin alpha 12	540	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.A540A(1)		NS(4)|breast(2)|cervix(1)|endometrium(19)|kidney(8)|large_intestine(8)|liver(2)|lung(25)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(1)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGCGCGACGCCGGCGTGCCGC	0.697																																					Pancreas(113;759 1672 13322 24104 50104)	uc003lic.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(1618-1620)GCC>GCG		protocadherin alpha 12 isoform 1 precursor							79.0	87.0	85.0					5																	140256677		2202	4298	6500	SO:0001819	synonymous_variant	56137				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding|protein binding	g.chr5:140256677C>G	AF152477	CCDS47285.1, CCDS75327.1	5q31	2010-11-26			ENSG00000251664	ENSG00000251664		"""Cadherins / Protocadherins : Clustered"""	8666	other	complex locus constituent	"""KIAA0345-like 2"""	606318				10380929	Standard	NM_018903		Approved	PCDH-ALPHA12	uc003lic.2	Q9UN75	OTTHUMG00000163366	ENST00000398631.2:c.1620C>G	5.37:g.140256677C>G						PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lhu.2_Intron|PCDHA10_uc003lhw.2_Intron|PCDHA10_uc003lhx.2_Intron|PCDHA11_uc003lia.2_Intron|PCDHA12_uc011daf.1_Silent_p.A540A	p.A540A	NM_018903	NP_061726	Q9UN75	PCDAC_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1747	+			540			Cadherin 5.|Extracellular (Potential).		O75278|Q2M1N8	Silent	SNP	ENST00000398631.2	37	c.1620C>G	CCDS47285.1																																																																																				PASS	0.697	PCDHA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372882.2	NM_018903		56	64	56	64	---	---	---	---
PCDHA9	9752	broad.mit.edu	37	5	140358567	140358567	+	Missense_Mutation	SNP	G	G	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr5:140358567G>T	ENST00000532602.1	+	2	3461	c.2428G>T	c.(2428-2430)Gcc>Tcc	p.A810S	PCDHA13_ENST00000409494.1_Missense_Mutation_p.A810S|PCDHA7_ENST00000525929.1_Missense_Mutation_p.A797S|PCDHAC1_ENST00000253807.2_Missense_Mutation_p.A823S|PCDHA6_ENST00000527624.1_Missense_Mutation_p.A546S|PCDHA10_ENST00000506939.2_Missense_Mutation_p.A545S|PCDHA8_ENST00000531613.1_Missense_Mutation_p.A810S|PCDHA4_ENST00000530339.1_Missense_Mutation_p.A807S|PCDHA5_ENST00000529859.1_Missense_Mutation_p.A796S|PCDHA4_ENST00000512229.2_Missense_Mutation_p.A807S|PCDHA13_ENST00000289272.2_Missense_Mutation_p.A810S|PCDHA3_ENST00000522353.2_Missense_Mutation_p.A810S|PCDHA2_ENST00000526136.1_Missense_Mutation_p.A808S|PCDHA11_ENST00000398640.2_Missense_Mutation_p.A809S|PCDHA1_ENST00000504120.2_Missense_Mutation_p.A810S|PCDHA5_ENST00000529619.1_Missense_Mutation_p.A796S|PCDHA10_ENST00000307360.5_Missense_Mutation_p.A808S|PCDHA6_ENST00000529310.1_Missense_Mutation_p.A810S|PCDHAC2_ENST00000289269.5_Missense_Mutation_p.A867S|PCDHA12_ENST00000398631.2_Missense_Mutation_p.A801S|PCDHA1_ENST00000394633.3_Missense_Mutation_p.A546S	NM_031857.1	NP_114063.1	Q9Y5H5	PCDA9_HUMAN	protocadherin alpha 9	810	5 X 4 AA repeats of P-X-X-P.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.A810S(6)|p.A808S(2)|p.A545S(1)|p.A801S(1)|p.A797S(1)|p.A823S(1)|p.A796S(1)|p.A807S(1)|p.A867S(1)|p.A809S(1)		breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(18)|ovary(4)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	59			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCGTTACTCTGCCTCCCTGAG	0.463																																					Melanoma(55;1800 1972 14909)	uc003lii.2																			16	Substitution - Missense(16)		lung(16)	ovary(2)|skin(2)	4						c.(2599-2601)GCC>TCC		protocadherin alpha subfamily C, 2 isoform 1							97.0	95.0	96.0					5																	140358567		2203	4300	6503	SO:0001583	missense	56134				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding	g.chr5:140358567G>T	AF152487	CCDS54920.1	5q31	2010-11-26				ENSG00000204961		"""Cadherins / Protocadherins : Clustered"""	8675	other	complex locus constituent	"""KIAA0345-like 5"""	606315				10380929	Standard	NM_031857		Approved	KIAA0345, PCDH-ALPHA9		Q9Y5H5		ENST00000532602.1:c.2428G>T	5.37:g.140358567G>T	ENSP00000436042:p.Ala810Ser					PCDHA1_uc003lha.2_Missense_Mutation_p.A546S|PCDHA1_uc003lhb.2_Missense_Mutation_p.A810S|PCDHA2_uc003lhd.2_Missense_Mutation_p.A808S|PCDHA3_uc003lhf.2_Missense_Mutation_p.A810S|PCDHA4_uc003lhi.2_Missense_Mutation_p.A807S|PCDHA4_uc003lhh.1_Missense_Mutation_p.A807S|PCDHA5_uc003lhk.1_Missense_Mutation_p.A796S|PCDHA5_uc003lhl.2_Missense_Mutation_p.A796S|PCDHA6_uc003lhn.2_Missense_Mutation_p.A546S|PCDHA6_uc003lho.2_Missense_Mutation_p.A810S|PCDHA7_uc003lhq.2_Missense_Mutation_p.A797S|PCDHA8_uc003lhs.2_Missense_Mutation_p.A810S|PCDHA9_uc003lhu.2_Missense_Mutation_p.A810S|PCDHA10_uc003lhw.2_Missense_Mutation_p.A545S|PCDHA10_uc003lhx.2_Missense_Mutation_p.A808S|PCDHA11_uc003lia.2_Missense_Mutation_p.A809S|PCDHA12_uc003lic.2_Missense_Mutation_p.A801S|PCDHA13_uc003lie.1_Missense_Mutation_p.A810S|PCDHA13_uc003lif.2_Missense_Mutation_p.A810S|PCDHAC1_uc003lih.2_Missense_Mutation_p.A823S	p.A867S	NM_018899	NP_061722	Q9Y5I4	PCDC2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		2	2839	+			867			4 X 4 AA repeats of P-X-X-P.|Cytoplasmic (Potential).		O15053|Q2M3S5	Missense_Mutation	SNP	ENST00000532602.1	37	c.2599G>T	CCDS54920.1	.	.	.	.	.	.	.	.	.	.	G	32	5.152740	0.94645	.	.	ENSG00000204970;ENSG00000204970;ENSG00000204969;ENSG00000255408;ENSG00000204967;ENSG00000204967;ENSG00000204965;ENSG00000204965;ENSG00000081842;ENSG00000081842;ENSG00000204963;ENSG00000204962;ENSG00000204961;ENSG00000250120;ENSG00000250120;ENSG00000249158;ENSG00000251664;ENSG00000239389;ENSG00000239389;ENSG00000248383;ENSG00000243232	ENST00000504120;ENST00000394633;ENST00000526136;ENST00000522353;ENST00000512229;ENST00000530339;ENST00000529619;ENST00000529859;ENST00000529310;ENST00000527624;ENST00000525929;ENST00000531613;ENST00000532602;ENST00000506939;ENST00000307360;ENST00000398640;ENST00000398631;ENST00000409494;ENST00000289272;ENST00000253807;ENST00000289269	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.17054	2.3;2.3;2.3;2.3;2.3;2.3;2.3;2.3;2.3;2.3;2.3;2.3;2.3;2.3;2.3;2.3;2.3;2.3;2.3;2.3;2.3	5.31	5.31	0.75309	.	0.000000	0.38548	N	0.001650	T	0.41534	0.1163	M	0.65498	2.005	0.80722	D	1	D;P;B;P;B;B;P;D;D;P;P;P;B;P;P;P;B;P;B;P;B	0.89917	0.999;0.784;0.175;0.749;0.435;0.209;0.864;1.0;0.975;0.621;0.749;0.948;0.02;0.745;0.918;0.749;0.312;0.568;0.104;0.895;0.103	D;P;B;B;B;B;P;D;P;B;B;P;B;B;P;B;B;B;B;B;B	0.87578	0.991;0.54;0.086;0.339;0.218;0.099;0.52;0.998;0.67;0.326;0.359;0.722;0.022;0.196;0.596;0.206;0.126;0.175;0.096;0.313;0.231	T	0.11446	-1.0587	10	0.45353	T	0.12	.	17.1553	0.86790	0.0:0.0:1.0:0.0	.	867;823;810;810;801;809;808;545;810;810;797;810;546;796;796;807;807;810;808;810;546	Q9Y5I4;Q9H158;Q9Y5I0;C9JA99;Q9UN75;Q9Y5I1;Q9Y5I2;Q9Y5I2-2;Q9Y5H5;Q9Y5H6;Q9UN72;Q9UN73;Q9UN73-2;Q9Y5H7;Q9Y5H7-3;Q9UN74;D6RA20;Q9Y5H8;Q9Y5H9;Q9Y5I3;Q9Y5I3-2	PCDC2_HUMAN;PCDC1_HUMAN;PCDAD_HUMAN;.;PCDAC_HUMAN;PCDAB_HUMAN;PCDAA_HUMAN;.;PCDA9_HUMAN;PCDA8_HUMAN;PCDA7_HUMAN;PCDA6_HUMAN;.;PCDA5_HUMAN;.;PCDA4_HUMAN;.;PCDA3_HUMAN;PCDA2_HUMAN;PCDA1_HUMAN;.	S	810;546;808;810;807;807;796;796;810;546;797;810;810;545;808;809;801;810;810;823;867	ENSP00000420840:A810S;ENSP00000378129:A546S;ENSP00000431748:A808S;ENSP00000429808:A810S;ENSP00000423470:A807S;ENSP00000435300:A807S;ENSP00000433416:A796S;ENSP00000436557:A796S;ENSP00000433378:A810S;ENSP00000434113:A546S;ENSP00000436426:A797S;ENSP00000434655:A810S;ENSP00000436042:A810S;ENSP00000421030:A545S;ENSP00000304234:A808S;ENSP00000381636:A809S;ENSP00000381628:A801S;ENSP00000386821:A810S;ENSP00000289272:A810S;ENSP00000253807:A823S;ENSP00000289269:A867S	ENSP00000304234:A808S	A	+	1	0	PCDHA6;PCDHA7;PCDHA8;PCDHA9;PCDHA2;PCDHA3;PCDHA4;PCDHA5;PCDHA10;PCDHA11;PCDHA12;PCDHA1;PCDHA13;PCDHAC2;PCDHAC1	140338751	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	8.737000	0.91562	2.478000	0.83669	0.585000	0.79938	GCC		PASS	0.463	PCDHA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372896.2	NM_031857		35	33	35	33	---	---	---	---
PCDHB13	56123	broad.mit.edu	37	5	140594417	140594417	+	Missense_Mutation	SNP	C	C	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr5:140594417C>T	ENST00000341948.4	+	1	909	c.722C>T	c.(721-723)cCt>cTt	p.P241L		NM_018933.2	NP_061756.1	Q9Y5F0	PCDBD_HUMAN	protocadherin beta 13	241	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|homophilic cell adhesion (GO:0007156)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.P241L(1)		NS(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(4)|lung(24)|ovary(5)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	66			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GATAATGCCCCTGAATTTGAG	0.532																																						uc003lja.1																			1	Substitution - Missense(1)		lung(1)	skin(2)|ovary(1)	3						c.(721-723)CCT>CTT		protocadherin beta 13 precursor							186.0	191.0	189.0					5																	140594417		2203	4300	6503	SO:0001583	missense	56123				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140594417C>T	AF152492	CCDS4255.1	5q31	2010-01-26			ENSG00000187372	ENSG00000187372		"""Cadherins / Protocadherins : Clustered"""	8684	other	protocadherin		606339				10380929	Standard	NM_018933		Approved	PCDH-BETA13	uc003lja.1	Q9Y5F0	OTTHUMG00000129615	ENST00000341948.4:c.722C>T	5.37:g.140594417C>T	ENSP00000345491:p.Pro241Leu						p.P241L	NM_018933	NP_061756	Q9Y5F0	PCDBD_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	909	+			241			Cadherin 2.|Extracellular (Potential).		A8K9V6	Missense_Mutation	SNP	ENST00000341948.4	37	c.722C>T	CCDS4255.1	.	.	.	.	.	.	.	.	.	.	c	33	5.260237	0.95368	.	.	ENSG00000187372	ENST00000341948;ENST00000430318;ENST00000419217	D	0.84800	-1.9	3.51	2.54	0.30619	Cadherin (3);Cadherin conserved site (1);Cadherin-like (1);	.	.	.	.	D	0.96225	0.8769	H	0.99981	5.2	0.58432	D	0.999995	D	0.89917	1.0	D	0.87578	0.998	D	0.96644	0.9476	9	0.87932	D	0	.	12.8027	0.57594	0.0:0.8345:0.1655:0.0	.	241	Q9Y5F0	PCDBD_HUMAN	L	241	ENSP00000345491:P241L	ENSP00000345491:P241L	P	+	2	0	PCDHB13	140574601	1.000000	0.71417	0.027000	0.17364	0.948000	0.59901	4.885000	0.63142	1.675000	0.50919	0.306000	0.20318	CCT		PASS	0.532	PCDHB13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251810.1	NM_018933		84	102	84	102	---	---	---	---
PCDHGA2	56113	broad.mit.edu	37	5	140720414	140720414	+	Missense_Mutation	SNP	G	G	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr5:140720414G>T	ENST00000394576.2	+	1	1876	c.1876G>T	c.(1876-1878)Gtg>Ttg	p.V626L	PCDHGA1_ENST00000517417.1_Intron	NM_018915.2	NP_061738.1	Q9Y5H1	PCDG2_HUMAN	protocadherin gamma subfamily A, 2	626	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.V626L(2)		breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(32)|ovary(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CACGGGCGAGGTGCGCACGGC	0.687																																						uc003ljk.1																			2	Substitution - Missense(2)		lung(2)	skin(2)|ovary(1)	3						c.(1876-1878)GTG>TTG		protocadherin gamma subfamily A, 2 isoform 1							35.0	42.0	40.0					5																	140720414		2194	4286	6480	SO:0001583	missense	56113				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140720414G>T	AF152508	CCDS47289.1	5q31	2011-03-28			ENSG00000081853	ENSG00000081853		"""Cadherins / Protocadherins : Clustered"""	8700	other	protocadherin		606289				10380929	Standard	NM_018915		Approved	PCDH-GAMMA-A2		Q9Y5H1	OTTHUMG00000163679	ENST00000394576.2:c.1876G>T	5.37:g.140720414G>T	ENSP00000378077:p.Val626Leu					PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc011dao.1_Missense_Mutation_p.V626L	p.V626L	NM_018915	NP_061738	Q9Y5H1	PCDG2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	2061	+			626			Extracellular (Potential).|Cadherin 6.		Q52LL6|Q9Y5D5	Missense_Mutation	SNP	ENST00000394576.2	37	c.1876G>T	CCDS47289.1	.	.	.	.	.	.	.	.	.	.	.	11.71	1.718687	0.30503	.	.	ENSG00000081853	ENST00000394576	T	0.38240	1.15	5.14	2.93	0.34026	Cadherin (4);Cadherin-like (1);	0.553780	0.13797	N	0.362080	T	0.22936	0.0554	N	0.11341	0.13	0.25362	N	0.988777	B;B	0.31485	0.054;0.325	B;B	0.40375	0.16;0.327	T	0.17992	-1.0351	10	0.54805	T	0.06	.	4.7999	0.13292	0.2293:0.1939:0.5767:0.0	.	626;626	Q9Y5H1-2;Q9Y5H1	.;PCDG2_HUMAN	L	626	ENSP00000378077:V626L	ENSP00000378077:V626L	V	+	1	0	PCDHGA2	140700598	1.000000	0.71417	0.998000	0.56505	0.098000	0.18820	2.136000	0.42121	1.315000	0.45114	0.485000	0.47835	GTG		PASS	0.687	PCDHGA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374738.1	NM_018915		45	34	45	34	---	---	---	---
PCDHGB1	56104	broad.mit.edu	37	5	140731432	140731432	+	Silent	SNP	C	C	G			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr5:140731432C>G	ENST00000523390.1	+	1	1605	c.1605C>G	c.(1603-1605)tcC>tcG	p.S535S	PCDHGA1_ENST00000517417.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA3_ENST00000253812.6_Intron	NM_018922.2|NM_032095.1	NP_061745.1|NP_115266.1	Q9Y5G3	PCDGD_HUMAN	protocadherin gamma subfamily B, 1	535	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.S535S(1)		central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(3)|ovary(2)|prostate(1)	16			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACCAGGGCTCCCCCGCGCTCA	0.711																																						uc003ljo.1																			1	Substitution - coding silent(1)		lung(1)		0						c.(1603-1605)TCC>TCG		protocadherin gamma subfamily B, 1 isoform 1							39.0	48.0	45.0					5																	140731432		2109	4225	6334	SO:0001819	synonymous_variant	56104				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140731432C>G	AF152517	CCDS54923.1, CCDS75330.1	5q31	2010-01-26				ENSG00000254221		"""Cadherins / Protocadherins : Clustered"""	8708	other	protocadherin	"""protocadherin gamma subfamily B, 1, isoform 2"""	606299				10380929	Standard	NM_018922		Approved	PCDH-GAMMA-B1		Q9Y5G3		ENST00000523390.1:c.1605C>G	5.37:g.140731432C>G						PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc011daq.1_Silent_p.S535S	p.S535S	NM_018922	NP_061745	Q9Y5G3	PCDGD_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1605	+			535			Extracellular (Potential).|Cadherin 5.		Q3SY75|Q9Y5C8	Silent	SNP	ENST00000523390.1	37	c.1605C>G	CCDS54923.1																																																																																				PASS	0.711	PCDHGB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374740.1	NM_018922		44	50	44	50	---	---	---	---
PCDHGA8	9708	broad.mit.edu	37	5	140774289	140774289	+	Missense_Mutation	SNP	G	G	C			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr5:140774289G>C	ENST00000398604.2	+	1	1909	c.1909G>C	c.(1909-1911)Gcg>Ccg	p.A637P	PCDHGB2_ENST00000522605.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA7_ENST00000518325.1_Intron	NM_032088.1	NP_114477.1	Q9Y5G5	PCDG8_HUMAN	protocadherin gamma subfamily A, 8	637	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.A637P(1)		endometrium(6)|kidney(6)|large_intestine(6)|lung(30)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	51			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGACAGAGATGCGCTCAAGCA	0.687																																						uc003lkd.1																			1	Substitution - Missense(1)		lung(1)		0						c.(1909-1911)GCG>CCG		protocadherin gamma subfamily A, 8 isoform 1							29.0	34.0	32.0					5																	140774289		2189	4270	6459	SO:0001583	missense	9708				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140774289G>C	AF152515	CCDS47291.1, CCDS75338.1	5q31	2010-01-26			ENSG00000253767	ENSG00000253767		"""Cadherins / Protocadherins : Clustered"""	8706	other	protocadherin		606295				10380929	Standard	NM_014004		Approved	KIAA0327, PCDH-GAMMA-A8		Q9Y5G5	OTTHUMG00000164053	ENST00000398604.2:c.1909G>C	5.37:g.140774289G>C	ENSP00000381605:p.Ala637Pro					PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc003lkc.1_Intron|PCDHGA8_uc003lkb.3_Missense_Mutation_p.A637P	p.A637P	NM_032088	NP_114477	Q9Y5G5	PCDG8_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	2807	+			637			Extracellular (Potential).|Cadherin 6.		A7MCZ4|O15039	Missense_Mutation	SNP	ENST00000398604.2	37	c.1909G>C	CCDS47291.1	.	.	.	.	.	.	.	.	.	.	.	11.76	1.735391	0.30774	.	.	ENSG00000253767	ENST00000398604	T	0.52754	0.65	5.02	0.586	0.17434	Cadherin (4);Cadherin-like (1);	0.000000	0.31010	U	0.008440	T	0.50309	0.1608	L	0.39397	1.21	0.09310	N	1	D;P	0.57899	0.981;0.5	P;B	0.62885	0.908;0.214	T	0.37641	-0.9697	10	0.62326	D	0.03	.	7.4287	0.27115	0.2292:0.0:0.6495:0.1213	.	637;637	Q9Y5G5;Q9Y5G5-2	PCDG8_HUMAN;.	P	637	ENSP00000381605:A637P	ENSP00000381605:A637P	A	+	1	0	PCDHGA8	140754473	0.000000	0.05858	0.003000	0.11579	0.993000	0.82548	0.314000	0.19432	0.176000	0.19873	0.650000	0.86243	GCG		PASS	0.687	PCDHGA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376972.1	NM_032088		21	23	21	23	---	---	---	---
PCDHGB6	56100	broad.mit.edu	37	5	140787817	140787817	+	Silent	SNP	G	G	A	rs376890554	byFrequency	TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr5:140787817G>A	ENST00000520790.1	+	1	48	c.48G>A	c.(46-48)gtG>gtA	p.V16V	PCDHGB2_ENST00000522605.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA7_ENST00000518325.1_Intron	NM_018926.2|NM_032100.1	NP_061749.1|NP_115271.1	Q9Y5F9	PCDGI_HUMAN	protocadherin gamma subfamily B, 6	16					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.V16V(1)		breast(2)|central_nervous_system(2)|endometrium(9)|kidney(1)|large_intestine(10)|lung(16)|ovary(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(2)	48			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			cgcggcAGGTGCTATTTCCTT	0.652											OREG0016861	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	.|||	3	0.000599042	0.0	0.0	5008	,	,		14968	0.0		0.001	False		,,,				2504	0.002					uc003lkj.1																			1	Substitution - coding silent(1)		lung(1)		0						c.(46-48)GTG>GTA		protocadherin gamma subfamily B, 6 isoform 1		G	,,,,,,,,,,,,,,,	1,3751		0,1,1875	25.0	29.0	28.0		,,,,,,,,,,,,,48,,48	4.2	1.0	5		28	0,8218		0,0,4109	no	intron,intron,intron,intron,intron,intron,intron,intron,intron,intron,intron,intron,intron,coding-synonymous,intron,coding-synonymous	PCDHGB4,PCDHGA8,PCDHGB6,PCDHGB5,PCDHGB3,PCDHGB2,PCDHGB1,PCDHGA9,PCDHGA7,PCDHGA6,PCDHGA5,PCDHGA4,PCDHGA3,PCDHGA2,PCDHGA1	NM_003736.2,NM_018912.2,NM_018915.2,NM_018916.3,NM_018917.2,NM_018918.2,NM_018919.2,NM_018920.2,NM_018921.2,NM_018922.2,NM_018923.2,NM_018924.2,NM_018925.2,NM_018926.2,NM_032088.1,NM_032100.1	,,,,,,,,,,,,,,,	0,1,5984	AA,AG,GG		0.0,0.0267,0.0084	,,,,,,,,,,,,,,,	,,,,,,,,,,,,,16/931,,16/821	140787817	1,11969	1876	4109	5985	SO:0001819	synonymous_variant	56100				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140787817G>A	AF152522	CCDS54929.1, CCDS75342.1	5q31	2010-01-26				ENSG00000253305		"""Cadherins / Protocadherins : Clustered"""	8713	other	protocadherin		606303				10380929	Standard	NM_018926		Approved	PCDH-GAMMA-B6		Q9Y5F9		ENST00000520790.1:c.48G>A	5.37:g.140787817G>A			OREG0016861	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1659	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc003lkc.1_Intron|PCDHGA8_uc003lkd.1_Intron|PCDHGB5_uc003lkf.1_Intron|PCDHGA9_uc003lkh.1_Intron|PCDHGB6_uc003lki.1_Silent_p.V16V	p.V16V	NM_018926	NP_061749	Q9Y5F9	PCDGI_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	48	+			16					Q9Y5C5	Silent	SNP	ENST00000520790.1	37	c.48G>A	CCDS54929.1																																																																																				PASS	0.652	PCDHGB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374746.1	NM_018926		4	6	4	6	---	---	---	---
PCDHGB7	56099	broad.mit.edu	37	5	140799700	140799700	+	Silent	SNP	G	G	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr5:140799700G>T	ENST00000398594.2	+	1	2274	c.2274G>T	c.(2272-2274)ggG>ggT	p.G758G	PCDHGB2_ENST00000522605.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA11_ENST00000518882.1_5'Flank|PCDHGA10_ENST00000398610.2_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA11_ENST00000398587.2_5'Flank|PCDHGA5_ENST00000518069.1_Intron|PCDHGA7_ENST00000518325.1_Intron	NM_018927.3	NP_061750.1	Q9Y5F8	PCDGJ_HUMAN	protocadherin gamma subfamily B, 7	758					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.G758G(1)		central_nervous_system(2)|endometrium(9)|kidney(6)|large_intestine(13)|lung(15)|ovary(4)|prostate(3)|stomach(1)|upper_aerodigestive_tract(3)	56			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTGTGCCTGGGGATCAAATGA	0.448																																						uc003lkn.1																			1	Substitution - coding silent(1)		lung(1)	ovary(2)	2						c.(2272-2274)GGG>GGT		protocadherin gamma subfamily B, 7 isoform 1							61.0	59.0	60.0					5																	140799700		1861	4115	5976	SO:0001819	synonymous_variant	56099				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140799700G>T	AF152523	CCDS47293.1, CCDS75344.1	5q31	2010-01-26			ENSG00000254122	ENSG00000254122		"""Cadherins / Protocadherins : Clustered"""	8714	other	protocadherin	"""cadherin ME6"""	606304				10380929	Standard	NM_032101		Approved	ME6, PCDH-GAMMA-B7		Q9Y5F8	OTTHUMG00000164054	ENST00000398594.2:c.2274G>T	5.37:g.140799700G>T						PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc003lkc.1_Intron|PCDHGA8_uc003lkd.1_Intron|PCDHGB5_uc003lkf.1_Intron|PCDHGA9_uc003lkh.1_Intron|PCDHGB6_uc003lkj.1_Intron|PCDHGA10_uc003lkl.1_Intron|PCDHGB7_uc003lkm.2_Silent_p.G758G|PCDHGA11_uc003lko.1_5'Flank|PCDHGA11_uc003lkp.1_5'Flank|PCDHGA11_uc003lkq.1_5'Flank	p.G758G	NM_018927	NP_061750	Q9Y5F8	PCDGJ_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	2419	+			758			Cytoplasmic (Potential).		Q9UN63	Silent	SNP	ENST00000398594.2	37	c.2274G>T	CCDS47293.1																																																																																				PASS	0.448	PCDHGB7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376973.1	NM_018927		25	40	25	40	---	---	---	---
KCTD16	57528	broad.mit.edu	37	5	143853639	143853639	+	Missense_Mutation	SNP	C	C	T	rs376520312		TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr5:143853639C>T	ENST00000507359.3	+	3	2340	c.1249C>T	c.(1249-1251)Cct>Tct	p.P417S	KCTD16_ENST00000512467.1_Missense_Mutation_p.P417S	NM_020768.3	NP_065819.1	Q68DU8	KCD16_HUMAN	potassium channel tetramerization domain containing 16	417					protein homooligomerization (GO:0051260)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)	cell junction (GO:0030054)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)|receptor complex (GO:0043235)		p.P417S(1)		large_intestine(5)|lung(9)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	21		all_hematologic(541;0.118)	KIRC - Kidney renal clear cell carcinoma(527;0.00111)|Kidney(363;0.00176)			GAGAAAACATCCTTGGCAATC	0.383																																						uc003lnm.1																			1	Substitution - Missense(1)		lung(1)	large_intestine(2)|ovary(1)|skin(1)	4						c.(1249-1251)CCT>TCT		potassium channel tetramerisation domain		C	SER/PRO	1,4389		0,1,2194	50.0	58.0	55.0		1249	5.1	1.0	5		55	0,8594		0,0,4297	no	missense	KCTD16	NM_020768.3	74	0,1,6491	TT,TC,CC		0.0,0.0228,0.0077	benign	417/429	143853639	1,12983	2195	4297	6492	SO:0001583	missense	57528					cell junction|postsynaptic membrane|presynaptic membrane|voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr5:143853639C>T	AB037738	CCDS34260.1	5q32	2013-06-20	2013-06-20		ENSG00000183775	ENSG00000183775			29244	protein-coding gene	gene with protein product		613423	"""potassium channel tetramerisation domain containing 16"""			10718198	Standard	NM_020768		Approved	KIAA1317	uc003lnm.1	Q68DU8	OTTHUMG00000163172	ENST00000507359.3:c.1249C>T	5.37:g.143853639C>T	ENSP00000426548:p.Pro417Ser					KCTD16_uc003lnn.1_Missense_Mutation_p.P417S	p.P417S	NM_020768	NP_065819	Q68DU8	KCD16_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00111)|Kidney(363;0.00176)		4	1878	+		all_hematologic(541;0.118)	417					Q9P2M9	Missense_Mutation	SNP	ENST00000507359.3	37	c.1249C>T	CCDS34260.1	.	.	.	.	.	.	.	.	.	.	C	9.445	1.089150	0.20390	2.28E-4	0.0	ENSG00000183775	ENST00000512467;ENST00000507359	T;T	0.40476	1.03;1.03	5.96	5.09	0.68999	.	0.256680	0.40640	N	0.001047	T	0.27900	0.0687	N	0.24115	0.695	0.31610	N	0.651578	B	0.06786	0.001	B	0.04013	0.001	T	0.23476	-1.0187	10	0.25751	T	0.34	.	10.5985	0.45352	0.0:0.798:0.1337:0.0682	.	417	Q68DU8	KCD16_HUMAN	S	417	ENSP00000424151:P417S;ENSP00000426548:P417S	ENSP00000426548:P417S	P	+	1	0	KCTD16	143833832	1.000000	0.71417	0.996000	0.52242	0.999000	0.98932	4.783000	0.62403	1.521000	0.48983	0.655000	0.94253	CCT		PASS	0.383	KCTD16-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371898.3	XM_098368		58	63	58	63	---	---	---	---
PDE6A	5145	broad.mit.edu	37	5	149245768	149245768	+	Missense_Mutation	SNP	C	C	A	rs542769869		TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr5:149245768C>A	ENST00000255266.5	-	20	2442	c.2323G>T	c.(2323-2325)Ggc>Tgc	p.G775C		NM_000440.2	NP_000431.2	P16499	PDE6A_HUMAN	phosphodiesterase 6A, cGMP-specific, rod, alpha	775					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.G775C(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)	TCAATGAAGCCGACTTGAAGC	0.468																																						uc003lrg.3																			1	Substitution - Missense(1)		lung(1)	ovary(1)|pancreas(1)	2						c.(2323-2325)GGC>TGC		phosphodiesterase 6A							171.0	157.0	162.0					5																	149245768		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.chr5:149245768C>A		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.2323G>T	5.37:g.149245768C>A	ENSP00000255266:p.Gly775Cys						p.G775C	NM_000440	NP_000431	P16499	PDE6A_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)		20	2443	-			775					Q0P638	Missense_Mutation	SNP	ENST00000255266.5	37	c.2323G>T	CCDS4299.1	.	.	.	.	.	.	.	.	.	.	C	26.2	4.715928	0.89112	.	.	ENSG00000132915	ENST00000255266	D	0.81659	-1.52	5.22	5.22	0.72569	5&apos (2);-cyclic nucleotide phosphodiesterase, catalytic domain (2);3&apos (2);	0.000000	0.85682	D	0.000000	D	0.91425	0.7294	M	0.90650	3.135	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.93102	0.6509	10	0.87932	D	0	.	16.2729	0.82629	0.0:1.0:0.0:0.0	.	775	P16499	PDE6A_HUMAN	C	775	ENSP00000255266:G775C	ENSP00000255266:G775C	G	-	1	0	PDE6A	149225961	1.000000	0.71417	0.999000	0.59377	0.990000	0.78478	7.137000	0.77295	2.431000	0.82371	0.462000	0.41574	GGC		PASS	0.468	PDE6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252326.2			33	32	33	32	---	---	---	---
PDGFRB	5159	broad.mit.edu	37	5	149502665	149502665	+	Missense_Mutation	SNP	C	C	A	rs200519248	byFrequency	TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr5:149502665C>A	ENST00000261799.4	-	15	2592	c.2123G>T	c.(2122-2124)cGc>cTc	p.R708L		NM_002609.3	NP_002600.1	P09619	PGFRB_HUMAN	platelet-derived growth factor receptor, beta polypeptide	708	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				adrenal gland development (GO:0030325)|aorta morphogenesis (GO:0035909)|cardiac myofibril assembly (GO:0055003)|cell chemotaxis (GO:0060326)|cell migration (GO:0016477)|cell migration involved in coronary angiogenesis (GO:0060981)|cell migration involved in vasculogenesis (GO:0035441)|cellular response to platelet-derived growth factor stimulus (GO:0036120)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G-protein coupled receptor signaling pathway (GO:0007186)|glycosaminoglycan biosynthetic process (GO:0006024)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|inner ear development (GO:0048839)|metanephric comma-shaped body morphogenesis (GO:0072278)|metanephric glomerular capillary formation (GO:0072277)|metanephric glomerular mesangial cell proliferation involved in metanephros development (GO:0072262)|metanephric mesenchymal cell migration (GO:0035789)|metanephric mesenchyme development (GO:0072075)|metanephric S-shaped body morphogenesis (GO:0072284)|negative regulation of apoptotic process (GO:0043066)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol metabolic process (GO:0046488)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|platelet-derived growth factor receptor-beta signaling pathway (GO:0035791)|positive regulation of calcium ion import (GO:0090280)|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 chemotaxis (GO:0050921)|positive regulation of collagen biosynthetic process (GO:0032967)|positive regulation of DNA biosynthetic process (GO:2000573)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of metanephric mesenchymal cell migration by platelet-derived growth factor receptor-beta signaling pathway (GO:0035793)|positive regulation of mitosis (GO:0045840)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of phospholipase C activity (GO:0010863)|positive regulation of phosphoprotein phosphatase activity (GO:0032516)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of smooth muscle cell migration (GO:0014911)|positive regulation of smooth muscle cell proliferation (GO:0048661)|protein autophosphorylation (GO:0046777)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|response to estradiol (GO:0032355)|response to fluid shear stress (GO:0034405)|response to hydrogen peroxide (GO:0042542)|response to hyperoxia (GO:0055093)|response to retinoic acid (GO:0032526)|response to toxic substance (GO:0009636)|retina vasculature development in camera-type eye (GO:0061298)|signal transduction (GO:0007165)|skeletal system morphogenesis (GO:0048705)|smooth muscle cell chemotaxis (GO:0071670)|smooth muscle tissue development (GO:0048745)|tissue homeostasis (GO:0001894)|transforming growth factor beta receptor signaling pathway (GO:0007179)|wound healing (GO:0042060)	apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intrinsic component of plasma membrane (GO:0031226)|lysosome (GO:0005764)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|platelet activating factor receptor activity (GO:0004992)|platelet-derived growth factor beta-receptor activity (GO:0005019)|platelet-derived growth factor binding (GO:0048407)|platelet-derived growth factor receptor binding (GO:0005161)|platelet-derived growth factor-activated receptor activity (GO:0005017)|protein kinase binding (GO:0019901)|protein tyrosine kinase activity (GO:0004713)|receptor binding (GO:0005102)|vascular endothelial growth factor binding (GO:0038085)	p.R708L(1)		breast(3)|central_nervous_system(5)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(9)|kidney(3)|large_intestine(12)|lung(20)|ovary(3)|prostate(3)|skin(3)|stomach(6)|urinary_tract(1)	75		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		Becaplermin(DB00102)|Dasatinib(DB01254)|Imatinib(DB00619)|Pazopanib(DB06589)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	GGGCGGGCGGCGCTTGTCGGA	0.617			T	"""ETV6, TRIP11, HIP1, RAB5EP, H4, NIN, HCMOGT-1, PDE4DIP"""	"""MPD, AML, CMML, CML"""																																	uc003lro.2				Dom	yes		5	5q31-q32	5159	T	"""platelet-derived growth factor receptor, beta polypeptide"""			L	ETV6|TRIP11|HIP1|RAB5EP|H4|NIN|HCMOGT-1|PDE4DIP		MPD|AML|CMML|CML		1	Substitution - Missense(1)		lung(1)	central_nervous_system(4)|lung(4)|breast(3)|stomach(2)|prostate(2)|large_intestine(1)|ovary(1)	17						c.(2122-2124)CGC>CTC		platelet-derived growth factor receptor beta	Becaplermin(DB00102)|Dasatinib(DB01254)|Imatinib(DB00619)|Sorafenib(DB00398)|Sunitinib(DB01268)						109.0	102.0	104.0					5																	149502665		2203	4300	6503	SO:0001583	missense	5159				aorta morphogenesis|cardiac myofibril assembly|hemopoiesis|metanephric glomerular capillary formation|metanephric glomerular mesangial cell proliferation involved in metanephros development|peptidyl-tyrosine phosphorylation|positive regulation of calcium ion import|positive regulation of chemotaxis|positive regulation of DNA biosynthetic process|positive regulation of ERK1 and ERK2 cascade|positive regulation of MAP kinase activity|positive regulation of metanephric mesenchymal cell migration by platelet-derived growth factor receptor-beta signaling pathway|positive regulation of mitosis|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of reactive oxygen species metabolic process|positive regulation of smooth muscle cell migration|positive regulation of smooth muscle cell proliferation|protein autophosphorylation|regulation of actin cytoskeleton organization|retina vasculature development in camera-type eye|smooth muscle cell chemotaxis	apical plasma membrane|cytoplasm|integral to plasma membrane|nucleus	ATP binding|platelet activating factor receptor activity|platelet-derived growth factor beta-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|vascular endothelial growth factor receptor activity	g.chr5:149502665C>A	M21616	CCDS4303.1	5q33.1	2013-01-29			ENSG00000113721	ENSG00000113721		"""CD molecules"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	8804	protein-coding gene	gene with protein product		173410		PDGFR			Standard	XM_005268464		Approved	JTK12, CD140b, PDGFR1	uc003lro.3	P09619	OTTHUMG00000130053	ENST00000261799.4:c.2123G>T	5.37:g.149502665C>A	ENSP00000261799:p.Arg708Leu					PDGFRB_uc010jhd.2_Missense_Mutation_p.R547L	p.R708L	NM_002609	NP_002600	P09619	PGFRB_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		15	2592	-		all_hematologic(541;0.224)	708			Cytoplasmic (Potential).|Protein kinase.		B5A957|Q8N5L4	Missense_Mutation	SNP	ENST00000261799.4	37	c.2123G>T	CCDS4303.1	.	.	.	.	.	.	.	.	.	.	C	13.44	2.237019	0.39498	.	.	ENSG00000113721	ENST00000261799;ENST00000544453	T	0.75367	-0.93	3.41	1.02	0.19986	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.488214	0.17076	N	0.187992	T	0.55816	0.1944	L	0.28054	0.825	0.28875	N	0.894726	B;B	0.31256	0.01;0.316	B;B	0.32022	0.036;0.139	T	0.46414	-0.9193	10	0.29301	T	0.29	.	5.7797	0.18299	0.0:0.7443:0.0:0.2557	.	708;708	A8KAM8;P09619	.;PGFRB_HUMAN	L	708;378	ENSP00000261799:R708L	ENSP00000261799:R708L	R	-	2	0	PDGFRB	149482858	1.000000	0.71417	0.974000	0.42286	0.959000	0.62525	0.834000	0.27518	0.218000	0.20820	0.462000	0.41574	CGC		PASS	0.617	PDGFRB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252332.1	NM_002609		60	60	60	60	---	---	---	---
ARSI	340075	broad.mit.edu	37	5	149677244	149677244	+	Missense_Mutation	SNP	C	C	G			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr5:149677244C>G	ENST00000328668.7	-	2	1822	c.1243G>C	c.(1243-1245)Gtg>Ctg	p.V415L		NM_001012301.2	NP_001012301.1	Q5FYB1	ARSI_HUMAN	arylsulfatase family, member I	415					cellular protein metabolic process (GO:0044267)|glycosphingolipid metabolic process (GO:0006687)|post-translational protein modification (GO:0043687)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	arylsulfatase activity (GO:0004065)|metal ion binding (GO:0046872)	p.V415L(1)		central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(11)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	23			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GCAGCCTGCACGGCGGTGTTC	0.637																																						uc003lrv.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|pancreas(1)	2						c.(1243-1245)GTG>CTG		arylsulfatase family, member I precursor							34.0	38.0	37.0					5																	149677244		2203	4299	6502	SO:0001583	missense	340075					endoplasmic reticulum|extracellular region	arylsulfatase activity|metal ion binding	g.chr5:149677244C>G	AY875937	CCDS34275.1	5q32	2014-03-03	2006-03-07			ENSG00000183876		"""Arylsulfatase family"""	32521	protein-coding gene	gene with protein product		610009	"""arylsulfatase I"""			16174644, 24482476	Standard	NM_001012301		Approved	FLJ16069, SPG66	uc003lrv.2	Q5FYB1		ENST00000328668.7:c.1243G>C	5.37:g.149677244C>G	ENSP00000333395:p.Val415Leu						p.V415L	NM_001012301	NP_001012301	Q5FYB1	ARSI_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		2	1832	-			415					A1L3B0|B3KV22|B7XD03	Missense_Mutation	SNP	ENST00000328668.7	37	c.1243G>C	CCDS34275.1	.	.	.	.	.	.	.	.	.	.	C	15.42	2.828751	0.50845	.	.	ENSG00000183876	ENST00000328668;ENST00000515301	D;D	0.97404	-4.37;-4.37	4.59	4.59	0.56863	Alkaline phosphatase-like, alpha/beta/alpha (1);Sulfatase (1);Alkaline-phosphatase-like, core domain (1);	0.000000	0.85682	D	0.000000	D	0.95717	0.8607	L	0.48218	1.51	0.58432	D	0.999999	P	0.38729	0.644	B	0.43658	0.426	D	0.94614	0.7807	10	0.20046	T	0.44	.	17.5928	0.88001	0.0:1.0:0.0:0.0	.	415	Q5FYB1	ARSI_HUMAN	L	415;272	ENSP00000333395:V415L;ENSP00000426879:V272L	ENSP00000333395:V415L	V	-	1	0	ARSI	149657437	0.574000	0.26684	0.939000	0.37840	0.661000	0.39034	1.281000	0.33214	2.377000	0.81083	0.561000	0.74099	GTG		PASS	0.637	ARSI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373681.1	NM_001012301		26	40	26	40	---	---	---	---
FAM71B	153745	broad.mit.edu	37	5	156589937	156589937	+	Missense_Mutation	SNP	G	G	C	rs115938677	byFrequency	TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr5:156589937G>C	ENST00000302938.4	-	2	1434	c.1339C>G	c.(1339-1341)Cgc>Ggc	p.R447G		NM_130899.2	NP_570969.2	Q8TC56	FA71B_HUMAN	family with sequence similarity 71, member B	447						nucleus (GO:0005634)		p.R447G(1)		NS(3)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(32)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	68	Renal(175;0.00212)	Medulloblastoma(196;0.0523)|all_neural(177;0.21)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			CCTGCCTTGCGGTGATGAGAA	0.498																																						uc003lwn.2																			1	Substitution - Missense(1)		lung(1)	ovary(4)|pancreas(1)|skin(1)	6						c.(1339-1341)CGC>GGC		family with sequence similarity 71, member B							171.0	162.0	165.0					5																	156589937		2203	4300	6503	SO:0001583	missense	153745					nucleus		g.chr5:156589937G>C		CCDS4335.1	5q33.3	2005-08-09			ENSG00000170613	ENSG00000170613			28397	protein-coding gene	gene with protein product						12477932	Standard	NM_130899		Approved	MGC26988	uc003lwn.3	Q8TC56	OTTHUMG00000130246	ENST00000302938.4:c.1339C>G	5.37:g.156589937G>C	ENSP00000305596:p.Arg447Gly						p.R447G	NM_130899	NP_570969	Q8TC56	FA71B_HUMAN	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)		2	1439	-	Renal(175;0.00212)	Medulloblastoma(196;0.0523)|all_neural(177;0.21)	447			Bipartite nuclear localization signal (Potential).		Q1EDD9|Q8TC64|Q96LY8	Missense_Mutation	SNP	ENST00000302938.4	37	c.1339C>G	CCDS4335.1	.	.	.	.	.	.	.	.	.	.	G	13.16	2.154883	0.38021	.	.	ENSG00000170613	ENST00000302938	T	0.18960	2.18	4.64	3.76	0.43208	.	1.354870	0.05270	N	0.517312	T	0.25531	0.0621	M	0.65498	2.005	0.27059	N	0.963601	P	0.39551	0.678	B	0.31812	0.136	T	0.34403	-0.9830	10	0.72032	D	0.01	-0.0752	10.7971	0.46466	0.0:0.0:0.8103:0.1897	.	447	Q8TC56	FA71B_HUMAN	G	447	ENSP00000305596:R447G	ENSP00000305596:R447G	R	-	1	0	FAM71B	156522515	0.960000	0.32886	0.566000	0.28421	0.204000	0.24138	1.831000	0.39141	1.241000	0.43820	0.655000	0.94253	CGC		PASS	0.498	FAM71B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252570.2	NM_130899		128	104	128	104	---	---	---	---
RNF145	153830	broad.mit.edu	37	5	158621832	158621832	+	Splice_Site	SNP	C	C	G			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr5:158621832C>G	ENST00000424310.2	-	3	544	c.185G>C	c.(184-186)gGt>gCt	p.G62A	RNF145_ENST00000520638.1_Splice_Site_p.G76A|RNF145_ENST00000519865.1_Splice_Site_p.G62A|RNF145_ENST00000518802.1_Splice_Site_p.G92A|RNF145_ENST00000521606.2_Splice_Site_p.G79A|RNF145_ENST00000274542.2_Splice_Site_p.G90A	NM_001199383.1	NP_001186312.1	Q96MT1	RN145_HUMAN	ring finger protein 145	62						integral component of membrane (GO:0016021)	zinc ion binding (GO:0008270)	p.G90A(1)		endometrium(7)|kidney(2)|large_intestine(5)|lung(9)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	30	Renal(175;0.00196)	Medulloblastoma(196;0.0523)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			TAAGATATAACCTGTACCAGA	0.333																																						uc003lxp.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|lung(1)|skin(1)	5						c.(184-186)GGT>GCT		ring finger protein 145							62.0	68.0	66.0					5																	158621832		2203	4300	6503	SO:0001630	splice_region_variant	153830					integral to membrane	zinc ion binding	g.chr5:158621832C>G	BC042684	CCDS4344.1, CCDS56390.1, CCDS56391.1, CCDS56392.1, CCDS56393.1	5q33.3	2013-01-09			ENSG00000145860	ENSG00000145860		"""RING-type (C3HC4) zinc fingers"""	20853	protein-coding gene	gene with protein product							Standard	NM_001199380		Approved	FLJ31951	uc003lxo.2	Q96MT1	OTTHUMG00000130306	ENST00000424310.2:c.185-1G>C	5.37:g.158621832C>G						RNF145_uc011ddy.1_Missense_Mutation_p.G76A|RNF145_uc003lxo.1_Missense_Mutation_p.G90A|RNF145_uc011ddz.1_Missense_Mutation_p.G79A|RNF145_uc010jiq.1_Missense_Mutation_p.G92A|RNF145_uc011dea.1_Missense_Mutation_p.G78A	p.G62A	NM_144726	NP_653327	Q96MT1	RN145_HUMAN	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		3	498	-	Renal(175;0.00196)	Medulloblastoma(196;0.0523)	62			Helical; (Potential).		B7Z903|B7Z949|E7EVI7|Q8IVP7	Missense_Mutation	SNP	ENST00000424310.2	37	c.185G>C	CCDS56390.1	.	.	.	.	.	.	.	.	.	.	C	13.28	2.188990	0.38707	.	.	ENSG00000145860	ENST00000274542;ENST00000519865;ENST00000424310;ENST00000521606;ENST00000413445;ENST00000518802;ENST00000535312;ENST00000520638	D;D;D;D;D;D;D	0.82433	-1.61;-1.56;-1.56;-1.59;-1.59;-1.61;-1.59	5.38	5.38	0.77491	.	0.045896	0.85682	D	0.000000	D	0.83454	0.5258	N	0.17474	0.49	0.80722	D	1	D;D;D;D;D;D	0.61080	0.989;0.989;0.989;0.989;0.974;0.986	D;D;D;D;P;P	0.66351	0.943;0.943;0.943;0.943;0.807;0.905	T	0.79885	-0.1614	10	0.18276	T	0.48	.	19.5589	0.95364	0.0:1.0:0.0:0.0	.	78;79;76;92;62;90	E7EW26;B7Z949;B7Z903;E7EVI7;Q96MT1;Q96MT1-2	.;.;.;.;RN145_HUMAN;.	A	90;62;62;78;79;92;62;76	ENSP00000274542:G90A;ENSP00000430397:G62A;ENSP00000409064:G62A;ENSP00000430753:G78A;ENSP00000445115:G79A;ENSP00000430955:G92A;ENSP00000429071:G76A	ENSP00000274542:G90A	G	-	2	0	RNF145	158554410	1.000000	0.71417	1.000000	0.80357	0.906000	0.53458	7.298000	0.78815	2.706000	0.92434	0.650000	0.86243	GGT		PASS	0.333	RNF145-002	PUTATIVE	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374048.1	NM_144726	Missense_Mutation	59	42	59	42	---	---	---	---
GABRP	2568	broad.mit.edu	37	5	170222299	170222299	+	Missense_Mutation	SNP	C	C	A	rs145233692		TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr5:170222299C>A	ENST00000518525.1	+	6	792	c.328C>A	c.(328-330)Cgc>Agc	p.R110S	GABRP_ENST00000265294.4_Missense_Mutation_p.R110S|GABRP_ENST00000519598.1_Missense_Mutation_p.R110S|GABRP_ENST00000519385.1_Missense_Mutation_p.R110S			O00591	GBRP_HUMAN	gamma-aminobutyric acid (GABA) A receptor, pi	110					signal transduction (GO:0007165)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|postsynaptic membrane (GO:0045211)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)	p.R110S(1)		NS(1)|breast(1)|cervix(1)|endometrium(5)|large_intestine(4)|lung(11)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	29	Renal(175;0.000159)|Lung NSC(126;0.0122)|all_lung(126;0.0193)	Medulloblastoma(196;0.0109)|all_neural(177;0.0298)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)		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)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|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)	TCTGGATGCCCGCCTCGTGGA	0.562																																						uc003mau.2																			1	Substitution - Missense(1)		lung(1)	breast(1)	1						c.(328-330)CGC>AGC		gamma-aminobutyric acid (GABA) A receptor, pi							121.0	124.0	123.0					5																	170222299		2203	4300	6503	SO:0001583	missense	2568					cell junction|chloride channel complex|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity	g.chr5:170222299C>A	U95367	CCDS4375.1, CCDS75368.1	5q35.1	2012-06-22			ENSG00000094755	ENSG00000094755		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4089	protein-coding gene	gene with protein product	"""GABA(A) receptor, pi"""	602729				9182563	Standard	NM_014211		Approved		uc003mau.3	O00591	OTTHUMG00000130443	ENST00000518525.1:c.328C>A	5.37:g.170222299C>A	ENSP00000430100:p.Arg110Ser					GABRP_uc011dev.1_Missense_Mutation_p.R110S	p.R110S	NM_014211	NP_055026	O00591	GBRP_HUMAN	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)		5	526	+	Renal(175;0.000159)|Lung NSC(126;0.0122)|all_lung(126;0.0193)	Medulloblastoma(196;0.0109)|all_neural(177;0.0298)	110			Extracellular (Potential).		A8KA36|D3DQL2|Q32MJ1	Missense_Mutation	SNP	ENST00000518525.1	37	c.328C>A	CCDS4375.1	.	.	.	.	.	.	.	.	.	.	C	17.14	3.312354	0.60414	.	.	ENSG00000094755	ENST00000521481;ENST00000522868;ENST00000518525;ENST00000265294;ENST00000519385;ENST00000519598	T;T;T;T;T;T	0.78126	-1.15;-1.15;-1.15;-1.15;-1.15;-1.15	5.59	5.59	0.84812	Neurotransmitter-gated ion-channel ligand-binding (3);	0.000000	0.85682	D	0.000000	D	0.83308	0.5226	L	0.37697	1.125	0.80722	D	1	D;P	0.89917	1.0;0.453	D;B	0.91635	0.999;0.262	T	0.79165	-0.1916	10	0.25106	T	0.35	.	19.5561	0.95349	0.0:1.0:0.0:0.0	.	110;110	E7EWG0;O00591	.;GBRP_HUMAN	S	110	ENSP00000428804:R110S;ENSP00000430188:R110S;ENSP00000430100:R110S;ENSP00000265294:R110S;ENSP00000430727:R110S;ENSP00000430772:R110S	ENSP00000265294:R110S	R	+	1	0	GABRP	170154877	0.975000	0.34042	0.921000	0.36526	0.983000	0.72400	2.462000	0.45049	2.784000	0.95788	0.643000	0.83706	CGC		PASS	0.562	GABRP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252834.3	NM_014211		133	106	133	106	---	---	---	---
HRH2	3274	broad.mit.edu	37	5	175111071	175111071	+	Missense_Mutation	SNP	G	G	C			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr5:175111071G>C	ENST00000231683.2	+	1	2608	c.835G>C	c.(835-837)Gcc>Ccc	p.A279P	HRH2_ENST00000377291.2_Missense_Mutation_p.A279P	NM_022304.2	NP_071640.1	P25021	HRH2_HUMAN	histamine receptor H2	279					digestive tract development (GO:0048565)|epithelial cell morphogenesis (GO:0003382)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|gastrin-induced gastric acid secretion (GO:0001698)|gland development (GO:0048732)|histamine-induced gastric acid secretion (GO:0001697)|immune response (GO:0006955)|memory (GO:0007613)|positive regulation of vasoconstriction (GO:0045907)|regulation of synaptic plasticity (GO:0048167)|visual learning (GO:0008542)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	histamine receptor activity (GO:0004969)	p.A279P(1)		breast(1)|cervix(1)|endometrium(3)|large_intestine(6)|lung(10)|ovary(1)	22	all_cancers(89;0.00805)|Renal(175;0.000269)|Lung NSC(126;0.00419)|all_lung(126;0.00711)	Medulloblastoma(196;0.0208)|all_neural(177;0.0277)|all_hematologic(541;0.214)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)	Colorectal(1;0.0154)|COAD - Colon adenocarcinoma(1;0.149)	Amitriptyline(DB00321)|Asenapine(DB06216)|Betazole(DB00272)|Cimetidine(DB00501)|Doxepin(DB01142)|Epinastine(DB00751)|Famotidine(DB00927)|Histamine Phosphate(DB00667)|Loxapine(DB00408)|Methantheline(DB00940)|Nizatidine(DB00585)|Olanzapine(DB00334)|Ranitidine(DB00863)|Roxatidine acetate(DB08806)|Tolazoline(DB00797)	GCTGGGCTATGCCAACTCAGC	0.572																																						uc003mdd.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(835-837)GCC>CCC		histamine receptor H2 isoform 2	Betazole(DB00272)|Cimetidine(DB00501)|Doxepin(DB01142)|Epinastine(DB00751)|Famotidine(DB00927)|Histamine Phosphate(DB00667)|Nizatidine(DB00585)|Ranitidine(DB00863)						123.0	96.0	105.0					5																	175111071		2203	4300	6503	SO:0001583	missense	3274				G-protein signaling, coupled to cyclic nucleotide second messenger|immune response	integral to plasma membrane	histamine receptor activity	g.chr5:175111071G>C		CCDS4395.1, CCDS47344.1	5q35	2012-08-08			ENSG00000113749	ENSG00000113749		"""GPCR / Class A : Histamine receptors"""	5183	protein-coding gene	gene with protein product		142703				1714721	Standard	NM_022304		Approved		uc003mdc.4	P25021	OTTHUMG00000130660	ENST00000231683.2:c.835G>C	5.37:g.175111071G>C	ENSP00000231683:p.Ala279Pro					HRH2_uc003mdc.3_Missense_Mutation_p.A279P	p.A279P	NM_022304	NP_071640	P25021	HRH2_HUMAN	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)	Colorectal(1;0.0154)|COAD - Colon adenocarcinoma(1;0.149)	1	2608	+	all_cancers(89;0.00805)|Renal(175;0.000269)|Lung NSC(126;0.00419)|all_lung(126;0.00711)	Medulloblastoma(196;0.0208)|all_neural(177;0.0277)|all_hematologic(541;0.214)	279			Helical; Name=7; (Potential).		B5BUP7|Q14464|Q7Z5R9	Missense_Mutation	SNP	ENST00000231683.2	37	c.835G>C	CCDS4395.1	.	.	.	.	.	.	.	.	.	.	G	20.6	4.020632	0.75275	.	.	ENSG00000113749	ENST00000377291;ENST00000231683	T;T	0.39056	1.1;1.1	5.06	5.06	0.68205	GPCR, rhodopsin-like superfamily (1);	0.270726	0.35903	N	0.002915	T	0.71771	0.3379	M	0.93939	3.475	0.48341	D	0.999635	D;D	0.60575	0.967;0.988	P;D	0.66196	0.793;0.942	T	0.77205	-0.2673	10	0.36615	T	0.2	.	17.4238	0.87521	0.0:0.0:1.0:0.0	.	279;279	P25021;Q7Z5R9	HRH2_HUMAN;.	P	279	ENSP00000366506:A279P;ENSP00000231683:A279P	ENSP00000231683:A279P	A	+	1	0	HRH2	175043677	1.000000	0.71417	0.997000	0.53966	0.970000	0.65996	3.235000	0.51328	2.362000	0.80069	0.555000	0.69702	GCC		PASS	0.572	HRH2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253151.1			45	28	45	28	---	---	---	---
FAM153B	202134	broad.mit.edu	37	5	175533576	175533576	+	Missense_Mutation	SNP	C	C	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr5:175533576C>A	ENST00000253490.4	+	16	902	c.845C>A	c.(844-846)cCa>cAa	p.P282Q	FAM153B_ENST00000512862.1_Missense_Mutation_p.P73Q|FAM153B_ENST00000510151.1_Missense_Mutation_p.P205Q|FAM153B_ENST00000515817.1_Missense_Mutation_p.P205Q			P0C7A2	F153B_HUMAN	family with sequence similarity 153, member B	282								p.P282Q(1)		endometrium(3)|kidney(2)|large_intestine(1)|lung(8)|ovary(1)|prostate(1)	16	all_cancers(89;0.00406)|Renal(175;0.000269)|Lung NSC(126;0.0103)|all_lung(126;0.0164)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)|all_hematologic(541;0.214)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)	Kidney(146;0.0965)		CAGGTGGACCCAGCCACGCCG	0.463																																						uc003mdk.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(844-846)CCA>CAA		hypothetical protein LOC202134							174.0	176.0	175.0					5																	175533576		2202	4298	6500	SO:0001583	missense	202134							g.chr5:175533576C>A	AK055006	CCDS43401.1, CCDS43401.2	5q35.2	2010-05-12			ENSG00000182230	ENSG00000182230			27323	protein-coding gene	gene with protein product							Standard	NM_001265615		Approved		uc031smb.1	P0C7A2	OTTHUMG00000163181	ENST00000253490.4:c.845C>A	5.37:g.175533576C>A	ENSP00000253490:p.Pro282Gln						p.P282Q	NM_001079529	NP_001072997	P0C7A2	F153B_HUMAN	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)	Kidney(146;0.0965)	16	902	+	all_cancers(89;0.00406)|Renal(175;0.000269)|Lung NSC(126;0.0103)|all_lung(126;0.0164)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)|all_hematologic(541;0.214)	282					A8MTI1	Missense_Mutation	SNP	ENST00000253490.4	37	c.845C>A		.	.	.	.	.	.	.	.	.	.	C	8.791	0.930521	0.18131	.	.	ENSG00000182230	ENST00000515817;ENST00000253490	.	.	.	0.886	-0.135	0.13477	.	.	.	.	.	T	0.32882	0.0844	N	0.14661	0.345	0.09310	N	1	D	0.58970	0.984	P	0.62560	0.904	T	0.16012	-1.0417	8	0.59425	D	0.04	.	4.7341	0.12979	0.0:0.5993:0.4007:0.0	.	282	P0C7A2	F153B_HUMAN	Q	205;282	.	ENSP00000253490:P282Q	P	+	2	0	FAM153B	175466182	0.040000	0.19996	0.000000	0.03702	0.061000	0.15899	0.775000	0.26689	-0.051000	0.13334	0.175000	0.17021	CCA		PASS	0.463	FAM153B-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_001079529		100	150	100	150	---	---	---	---
DBN1	1627	broad.mit.edu	37	5	176893795	176893795	+	Missense_Mutation	SNP	C	C	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr5:176893795C>A	ENST00000309007.5	-	8	968	c.749G>T	c.(748-750)cGg>cTg	p.R250L	DBN1_ENST00000393565.1_Missense_Mutation_p.R250L|DBN1_ENST00000292385.5_Missense_Mutation_p.R252L	NM_004395.3	NP_004386	Q16643	DREB_HUMAN	drebrin 1	250					actin filament organization (GO:0007015)|cell communication by chemical coupling (GO:0010643)|cell communication by electrical coupling (GO:0010644)|maintenance of protein location in cell (GO:0032507)|neural precursor cell proliferation (GO:0061351)|regulation of dendrite development (GO:0050773)|regulation of neuronal synaptic plasticity (GO:0048168)	actin cytoskeleton (GO:0015629)|actomyosin (GO:0042641)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|gap junction (GO:0005921)|plasma membrane (GO:0005886)	actin binding (GO:0003779)|profilin binding (GO:0005522)	p.R250L(1)|p.R252L(1)		breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(1)|lung(12)|ovary(1)|skin(2)	25	all_cancers(89;2.17e-05)|Renal(175;0.000269)|Lung NSC(126;0.0014)|all_lung(126;0.0025)	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)			CTCCTTCAACCGCCTCTTGGC	0.597																																						uc003mgy.2																			2	Substitution - Missense(2)		lung(2)	breast(3)|ovary(1)|lung(1)|skin(1)	6						c.(748-750)CGG>CTG		drebrin 1 isoform a							182.0	192.0	189.0					5																	176893795		2203	4300	6503	SO:0001583	missense	1627				actin filament organization|regulation of dendrite development|regulation of neuronal synaptic plasticity	actomyosin|cytoplasm|dendrite	actin binding|profilin binding	g.chr5:176893795C>A		CCDS4420.1, CCDS4421.1	5q35.3	2008-02-05			ENSG00000113758	ENSG00000113758			2695	protein-coding gene	gene with protein product		126660		D0S117E		8216329	Standard	NM_004395		Approved		uc003mgy.2	Q16643	OTTHUMG00000130856	ENST00000309007.5:c.749G>T	5.37:g.176893795C>A	ENSP00000308532:p.Arg250Leu					DBN1_uc003mgx.2_Missense_Mutation_p.R252L|DBN1_uc010jkn.1_Missense_Mutation_p.R200L|DBN1_uc003mgz.1_Missense_Mutation_p.R187L	p.R250L	NM_004395	NP_004386	Q16643	DREB_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		8	921	-	all_cancers(89;2.17e-05)|Renal(175;0.000269)|Lung NSC(126;0.0014)|all_lung(126;0.0025)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	250					A8MV58|B2RBG0|Q9UFZ5	Missense_Mutation	SNP	ENST00000309007.5	37	c.749G>T	CCDS4420.1	.	.	.	.	.	.	.	.	.	.	C	23.4	4.409494	0.83340	.	.	ENSG00000113758	ENST00000309007;ENST00000292385;ENST00000393565;ENST00000477391	T;T;T	0.40476	1.03;1.03;1.63	4.99	4.99	0.66335	.	0.000000	0.85682	D	0.000000	T	0.59729	0.2215	L	0.51422	1.61	0.80722	D	1	D;D;D;D	0.76494	0.998;0.999;0.998;0.999	D;D;D;D	0.72075	0.94;0.975;0.924;0.976	T	0.59726	-0.7400	10	0.52906	T	0.07	-23.3894	18.0729	0.89417	0.0:1.0:0.0:0.0	.	200;250;250;252	B3KSQ7;A8MV58;Q16643;Q16643-2	.;.;DREB_HUMAN;.	L	250;252;250;249	ENSP00000308532:R250L;ENSP00000292385:R252L;ENSP00000377195:R250L	ENSP00000292385:R252L	R	-	2	0	DBN1	176826401	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	4.278000	0.58946	2.586000	0.87340	0.655000	0.94253	CGG		PASS	0.597	DBN1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000253429.2	NM_080881		118	103	118	103	---	---	---	---
PROP1	5626	broad.mit.edu	37	5	177419911	177419911	+	Silent	SNP	T	T	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr5:177419911T>A	ENST00000308304.2	-	3	788	c.480A>T	c.(478-480)ccA>ccT	p.P160P		NM_006261.4	NP_006252	O75360	PROP1_HUMAN	PROP paired-like homeobox 1	160					blood vessel development (GO:0001568)|canonical Wnt signaling pathway (GO:0060070)|cell migration (GO:0016477)|central nervous system development (GO:0007417)|dorsal/ventral pattern formation (GO:0009953)|hypophysis morphogenesis (GO:0048850)|hypothalamus cell differentiation (GO:0021979)|negative regulation of apoptotic process (GO:0043066)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|somatotropin secreting cell differentiation (GO:0060126)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|sequence-specific DNA binding (GO:0043565)	p.P160P(1)		endometrium(1)|large_intestine(2)|lung(9)|stomach(1)	13	all_cancers(89;0.00176)|Renal(175;0.000269)|Lung NSC(126;0.00858)|all_lung(126;0.0139)	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)			CTGGTGGTGGTGGTGCTGCGT	0.597																																						uc003mif.1																			1	Substitution - coding silent(1)		lung(1)		0						c.(478-480)CCA>CCT		PROP paired-like homeobox 1							194.0	174.0	181.0					5																	177419911		2203	4300	6503	SO:0001819	synonymous_variant	5626				central nervous system development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr5:177419911T>A	AF076215	CCDS4430.1	5q35.3	2011-06-20	2007-07-12		ENSG00000175325	ENSG00000175325		"""Homeoboxes / PRD class"""	9455	protein-coding gene	gene with protein product		601538	"""prophet of Pit1, paired-like homeodomain transcription factor"""			9462743	Standard	NM_006261		Approved		uc003mif.1	O75360	OTTHUMG00000130887	ENST00000308304.2:c.480A>T	5.37:g.177419911T>A							p.P160P	NM_006261	NP_006252	O75360	PROP1_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		3	789	-	all_cancers(89;0.00176)|Renal(175;0.000269)|Lung NSC(126;0.00858)|all_lung(126;0.0139)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	160						Silent	SNP	ENST00000308304.2	37	c.480A>T	CCDS4430.1																																																																																				PASS	0.597	PROP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253472.1	NM_006261		21	25	21	25	---	---	---	---
ADAMTS2	9509	broad.mit.edu	37	5	178554976	178554976	+	Silent	SNP	G	G	C			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr5:178554976G>C	ENST00000251582.7	-	17	2702	c.2601C>G	c.(2599-2601)tcC>tcG	p.S867S		NM_014244.4	NP_055059.2	O95450	ATS2_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 2	867	TSP type-1 2. {ECO:0000255|PROSITE- ProRule:PRU00210}.				collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)|lung development (GO:0030324)|protein processing (GO:0016485)|skin development (GO:0043588)|spermatogenesis (GO:0007283)	extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.S867S(1)		breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(31)|ovary(1)|pancreas(3)|prostate(2)|skin(7)	72	all_cancers(89;0.000456)|all_epithelial(37;0.000138)|Renal(175;0.000159)|Lung NSC(126;0.00184)|all_lung(126;0.00326)	all_cancers(40;0.00604)|all_neural(177;0.00411)|Medulloblastoma(196;0.00508)|Lung NSC(249;0.0569)|all_lung(500;0.129)|all_hematologic(541;0.211)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	GBM - Glioblastoma multiforme(465;0.0473)		CACAGGGCTTGGAGCACGGAG	0.607																																						uc003mjw.2																			1	Substitution - coding silent(1)		lung(1)	large_intestine(1)|lung(1)|ovary(1)|pancreas(1)	4						c.(2599-2601)TCC>TCG		ADAM metallopeptidase with thrombospondin type 1							154.0	133.0	140.0					5																	178554976		2203	4300	6503	SO:0001819	synonymous_variant	9509				collagen catabolic process	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr5:178554976G>C	AJ003125	CCDS4444.1, CCDS34311.1	5q23-q24	2008-07-18	2005-08-19		ENSG00000087116	ENSG00000087116		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	218	protein-coding gene	gene with protein product	"""procollagen I N-proteinase"", ""procollagen N-endopeptidase"""	604539	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 2"""			10094461, 15373769	Standard	NM_014244		Approved	ADAMTS-3, hPCPNI, PCINP, ADAM-TS2, NPI	uc003mjw.3	O95450	OTTHUMG00000130915	ENST00000251582.7:c.2601C>G	5.37:g.178554976G>C							p.S867S	NM_014244	NP_055059	O95450	ATS2_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	GBM - Glioblastoma multiforme(465;0.0473)	17	2601	-	all_cancers(89;0.000456)|all_epithelial(37;0.000138)|Renal(175;0.000159)|Lung NSC(126;0.00184)|all_lung(126;0.00326)	all_cancers(40;0.00604)|all_neural(177;0.00411)|Medulloblastoma(196;0.00508)|Lung NSC(249;0.0569)|all_lung(500;0.129)|all_hematologic(541;0.211)	867			TSP type-1 2.			Silent	SNP	ENST00000251582.7	37	c.2601C>G	CCDS4444.1																																																																																				PASS	0.607	ADAMTS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253507.1	NM_014244		68	72	68	72	---	---	---	---
FOXF2	2295	broad.mit.edu	37	6	1391171	1391171	+	Missense_Mutation	SNP	A	A	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr6:1391171A>T	ENST00000259806.1	+	1	1103	c.989A>T	c.(988-990)cAc>cTc	p.H330L		NM_001452.1	NP_001443.1	Q12947	FOXF2_HUMAN	forkhead box F2	330					embryonic camera-type eye morphogenesis (GO:0048596)|embryonic digestive tract development (GO:0048566)|epithelial to mesenchymal transition (GO:0001837)|establishment of planar polarity of embryonic epithelium (GO:0042249)|extracellular matrix organization (GO:0030198)|genitalia development (GO:0048806)|negative regulation of transcription, DNA-templated (GO:0045892)|palate development (GO:0060021)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)	p.H330L(1)		large_intestine(2)|lung(5)|prostate(1)	8	Ovarian(93;0.0733)	all_lung(73;0.0713)|all_hematologic(90;0.0895)		OV - Ovarian serous cystadenocarcinoma(45;0.095)		ATCGAATGCCACTCGCCCTAC	0.756																																						uc003mtm.2																			1	Substitution - Missense(1)		lung(1)		0						c.(988-990)CAC>CTC		forkhead box F2							8.0	8.0	8.0					6																	1391171		2127	4166	6293	SO:0001583	missense	2295				epithelial to mesenchymal transition|genitalia development|palate development|pattern specification process|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription factor binding	g.chr6:1391171A>T	U13220	CCDS4472.1	6p25.3	2008-04-10			ENSG00000137273	ENSG00000137273		"""Forkhead boxes"""	3810	protein-coding gene	gene with protein product		603250		FKHL6		9799607, 7957066	Standard	NM_001452		Approved	FREAC2	uc003mtm.3	Q12947	OTTHUMG00000016243	ENST00000259806.1:c.989A>T	6.37:g.1391171A>T	ENSP00000259806:p.His330Leu					FOXF2_uc003mtn.2_Missense_Mutation_p.H330L	p.H330L	NM_001452	NP_001443	Q12947	FOXF2_HUMAN		OV - Ovarian serous cystadenocarcinoma(45;0.095)	1	1103	+	Ovarian(93;0.0733)	all_lung(73;0.0713)|all_hematologic(90;0.0895)	330					Q5TGJ1|Q9UQ85	Missense_Mutation	SNP	ENST00000259806.1	37	c.989A>T	CCDS4472.1	.	.	.	.	.	.	.	.	.	.	A	16.49	3.137134	0.56936	.	.	ENSG00000137273	ENST00000259806	D	0.92911	-3.13	4.72	2.26	0.28386	.	0.091185	0.43260	D	0.000598	D	0.84451	0.5475	M	0.70275	2.135	0.58432	D	0.999998	B	0.32245	0.361	B	0.29785	0.107	T	0.80070	-0.1536	10	0.41790	T	0.15	.	10.8137	0.46562	0.7138:0.2862:0.0:0.0	.	330	Q12947	FOXF2_HUMAN	L	330	ENSP00000259806:H330L	ENSP00000259806:H330L	H	+	2	0	FOXF2	1336170	0.998000	0.40836	0.990000	0.47175	0.988000	0.76386	3.809000	0.55606	0.295000	0.22570	0.533000	0.62120	CAC		PASS	0.756	FOXF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043558.1			7	4	7	4	---	---	---	---
NUP153	9972	broad.mit.edu	37	6	17688803	17688803	+	Missense_Mutation	SNP	C	C	A	rs202074605		TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr6:17688803C>A	ENST00000262077.2	-	2	157	c.158G>T	c.(157-159)gGg>gTg	p.G53V	NUP153_ENST00000537253.1_Missense_Mutation_p.G53V	NM_005124.2	NP_005115.2	P49790	NU153_HUMAN	nucleoporin 153kDa	53					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|negative regulation of RNA export from nucleus (GO:0046832)|nuclear pore complex assembly (GO:0051292)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral entry into host cell (GO:0046718)|viral penetration into host nucleus (GO:0075732)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nuclear inclusion body (GO:0042405)|nuclear membrane (GO:0031965)|nuclear periphery (GO:0034399)|nuclear pore (GO:0005643)|nuclear pore nuclear basket (GO:0044615)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|nucleocytoplasmic transporter activity (GO:0005487)|protein anchor (GO:0043495)|structural constituent of nuclear pore (GO:0017056)|transporter activity (GO:0005215)|zinc ion binding (GO:0008270)	p.G53V(1)		NS(2)|breast(6)|endometrium(4)|kidney(3)|large_intestine(7)|lung(23)|ovary(3)|skin(3)|urinary_tract(2)	53	Breast(50;0.0259)|Ovarian(93;0.0584)	all_hematologic(90;0.125)	all cancers(50;0.0981)|Epithelial(50;0.112)			TTGTAGCCACCCTGGCACAAT	0.378																																						uc003ncd.1																			1	Substitution - Missense(1)		lung(1)	lung(4)|ovary(2)|breast(2)|skin(1)	9						c.(157-159)GGG>GTG		nucleoporin 153kDa							136.0	129.0	131.0					6																	17688803		2203	4300	6503	SO:0001583	missense	9972				carbohydrate metabolic process|glucose transport|interspecies interaction between organisms|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	cytoplasm|nuclear membrane|nuclear pore|nucleolus|nucleoplasm	DNA binding|protein binding|transporter activity|zinc ion binding	g.chr6:17688803C>A	Z25535	CCDS4541.1, CCDS64359.1, CCDS75407.1	6p22.3	2008-07-29	2002-08-29		ENSG00000124789	ENSG00000124789			8062	protein-coding gene	gene with protein product		603948	"""nucleoporin 153kD"""			8110839	Standard	NM_001278209		Approved	HNUP153	uc003ncd.2	P49790	OTTHUMG00000014312	ENST00000262077.2:c.158G>T	6.37:g.17688803C>A	ENSP00000262077:p.Gly53Val					NUP153_uc011dje.1_Missense_Mutation_p.G53V|NUP153_uc010jpl.1_Missense_Mutation_p.G53V	p.G53V	NM_005124	NP_005115	P49790	NU153_HUMAN	all cancers(50;0.0981)|Epithelial(50;0.112)		2	358	-	Breast(50;0.0259)|Ovarian(93;0.0584)	all_hematologic(90;0.125)	53					B4DIK2|E7EPX5|F6QR24|Q4LE47|Q5T9I7|Q7Z743	Missense_Mutation	SNP	ENST00000262077.2	37	c.158G>T	CCDS4541.1	.	.	.	.	.	.	.	.	.	.	C	18.05	3.536840	0.65085	.	.	ENSG00000124789	ENST00000262077;ENST00000430136;ENST00000537253	T;T	0.09350	3.04;2.99	5.69	3.79	0.43588	.	0.275740	0.25481	N	0.030372	T	0.14270	0.0345	L	0.50333	1.59	0.58432	D	0.999993	D;B;P	0.60160	0.987;0.319;0.899	P;B;B	0.56960	0.81;0.107;0.382	T	0.02202	-1.1196	10	0.72032	D	0.01	-1.5755	16.43	0.83839	0.0:0.6705:0.3295:0.0	.	53;75;53	F6QR24;Q4LE47;P49790	.;.;NU153_HUMAN	V	53;75;53	ENSP00000262077:G53V;ENSP00000444029:G53V	ENSP00000262077:G53V	G	-	2	0	NUP153	17796782	0.995000	0.38212	0.992000	0.48379	0.956000	0.61745	1.354000	0.34056	1.374000	0.46228	-0.182000	0.12963	GGG		PASS	0.378	NUP153-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039953.1			164	84	164	84	---	---	---	---
SLC17A4	10050	broad.mit.edu	37	6	25769301	25769301	+	Silent	SNP	C	C	G			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr6:25769301C>G	ENST00000377905.4	+	3	299	c.180C>G	c.(178-180)gcC>gcG	p.A60A	SLC17A4_ENST00000397076.2_Silent_p.A6A|SLC17A4_ENST00000439485.2_Silent_p.A60A	NM_005495.2	NP_005486.1	Q9Y2C5	S17A4_HUMAN	solute carrier family 17, member 4	60					phosphate ion transmembrane transport (GO:0035435)|phosphate-containing compound metabolic process (GO:0006796)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	sodium:phosphate symporter activity (GO:0005436)	p.A60A(1)		breast(4)|endometrium(1)|kidney(4)|large_intestine(3)|lung(21)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						TGAGCATTGCCATCCCAGCTA	0.493																																						uc003nfe.2																			1	Substitution - coding silent(1)		lung(1)	skin(1)	1						c.(178-180)GCC>GCG		solute carrier family 17 (sodium phosphate),							114.0	111.0	112.0					6																	25769301		2203	4300	6503	SO:0001819	synonymous_variant	10050				phosphate metabolic process	integral to plasma membrane|membrane fraction	sodium:phosphate symporter activity	g.chr6:25769301C>G	AB020527	CCDS4564.1, CCDS75411.1	6p22.2	2013-07-18	2013-07-18		ENSG00000146039	ENSG00000146039		"""Solute carriers"""	10932	protein-coding gene	gene with protein product		604216	"""solute carrier family 17 (sodium phosphate), member 4"""			10319585	Standard	NM_005495		Approved	KIAA2138	uc003nfe.3	Q9Y2C5	OTTHUMG00000014410	ENST00000377905.4:c.180C>G	6.37:g.25769301C>G						SLC17A4_uc011djx.1_Silent_p.A60A|SLC17A4_uc003nff.1_5'UTR|SLC17A4_uc003nfg.2_5'UTR	p.A60A	NM_005495	NP_005486	Q9Y2C5	S17A4_HUMAN			3	299	+			60					B4DDV9|E7EPE8|E7EU17|Q32MB7|Q32MB8	Silent	SNP	ENST00000377905.4	37	c.180C>G	CCDS4564.1																																																																																				PASS	0.493	SLC17A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040068.1			90	57	90	57	---	---	---	---
HIST1H3A	8350	broad.mit.edu	37	6	26020907	26020907	+	Missense_Mutation	SNP	C	C	A	rs376740213		TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr6:26020907C>A	ENST00000357647.3	+	1	190	c.190C>A	c.(190-192)Cgt>Agt	p.R64S	HIST1H4A_ENST00000359907.3_5'Flank|HIST1H1A_ENST00000244573.3_5'Flank	NM_003529.2	NP_003520.1	P68431	H31_HUMAN	histone cluster 1, H3a	64					blood coagulation (GO:0007596)|chromatin organization (GO:0006325)|DNA replication-dependent nucleosome assembly (GO:0006335)|regulation of gene silencing (GO:0060968)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear chromosome (GO:0000228)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)|protein complex (GO:0043234)	DNA binding (GO:0003677)	p.R64S(1)		endometrium(1)|lung(3)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	8						ACTGCTTATTCGTAAACTACC	0.607																																						uc003nfp.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|pancreas(1)	2						c.(190-192)CGT>AGT		histone cluster 1, H3a							46.0	51.0	50.0					6																	26020907		2203	4300	6503	SO:0001583	missense	8350				blood coagulation|nucleosome assembly|regulation of gene silencing|S phase	nucleoplasm|nucleosome	DNA binding|protein binding	g.chr6:26020907C>A	Z46261	CCDS4570.1	6p22.1	2011-01-27	2006-10-11	2003-02-21	ENSG00000198366	ENSG00000275714		"""Histones / Replication-dependent"""	4766	protein-coding gene	gene with protein product		602810	"""H3 histone family, member A"", ""histone 1, H3a"""	H3FA		9119399, 12408966	Standard	NM_003529		Approved	H3/A	uc003nfp.1	P68431	OTTHUMG00000014418	ENST00000357647.3:c.190C>A	6.37:g.26020907C>A	ENSP00000350275:p.Arg64Ser					HIST1H1A_uc003nfo.2_5'Flank|HIST1H4A_uc003nfq.2_5'Flank	p.R64S	NM_003529	NP_003520	P68431	H31_HUMAN			1	190	+			64					A0PJT7|A5PLR1|P02295|P02296|P16106|Q6ISV8|Q6NWP8|Q6NWP9|Q6NXU4|Q71DJ3|Q93081	Missense_Mutation	SNP	ENST00000357647.3	37	c.190C>A	CCDS4570.1	.	.	.	.	.	.	.	.	.	.	c	14.98	2.695930	0.48202	.	.	ENSG00000198366	ENST00000357647	T	0.45668	0.89	3.51	3.51	0.40186	Histone-fold (2);Histone core (1);	.	.	.	.	T	0.47600	0.1454	M	0.85859	2.78	0.47819	D	0.999529	B	0.23377	0.084	B	0.39935	0.314	T	0.60260	-0.7298	9	0.72032	D	0.01	.	15.3185	0.74102	0.0:1.0:0.0:0.0	.	64	P68431	H31_HUMAN	S	64	ENSP00000350275:R64S	ENSP00000350275:R64S	R	+	1	0	HIST1H3A	26128886	1.000000	0.71417	1.000000	0.80357	0.049000	0.14656	4.482000	0.60257	2.265000	0.75225	0.557000	0.71058	CGT		PASS	0.607	HIST1H3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040080.1	NM_003529		50	24	50	24	---	---	---	---
HIST1H3E	8353	broad.mit.edu	37	6	26225524	26225524	+	Missense_Mutation	SNP	G	G	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr6:26225524G>T	ENST00000360408.1	+	1	142	c.142G>T	c.(142-144)Gct>Tct	p.A48S		NM_003532.2	NP_003523.1	P68431	H31_HUMAN	histone cluster 1, H3e	48					blood coagulation (GO:0007596)|chromatin organization (GO:0006325)|DNA replication-dependent nucleosome assembly (GO:0006335)|regulation of gene silencing (GO:0060968)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear chromosome (GO:0000228)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)|protein complex (GO:0043234)	DNA binding (GO:0003677)	p.A48S(1)		endometrium(1)|large_intestine(1)|lung(5)|skin(1)	8		all_hematologic(11;0.0223)|Acute lymphoblastic leukemia(11;0.0351)				TGGCACCGTGGCTCTGCGCGA	0.617																																						uc003nhb.2																			1	Substitution - Missense(1)		lung(1)		0						c.(142-144)GCT>TCT		histone cluster 1, H3f							55.0	55.0	55.0					6																	26225524		2203	4300	6503	SO:0001583	missense	8353				blood coagulation|nucleosome assembly|regulation of gene silencing|S phase	nucleoplasm|nucleosome	DNA binding|protein binding	g.chr6:26225524G>T	M60746	CCDS4596.1	6p22.1	2011-01-27	2006-10-11	2003-02-14	ENSG00000196966	ENSG00000274750		"""Histones / Replication-dependent"""	4769	protein-coding gene	gene with protein product		602813	"""H3 histone family, member D"", ""histone 1, H3e"""	H3FD		1916825, 12408966	Standard	NM_003532		Approved	H3/d, H3.1	uc003nhc.4	P68431	OTTHUMG00000014434	ENST00000360408.1:c.142G>T	6.37:g.26225524G>T	ENSP00000353581:p.Ala48Ser					HIST1H3E_uc003nhc.3_Missense_Mutation_p.A48S	p.A48S	NM_021018	NP_066298	P68431	H31_HUMAN			2	502	+		all_hematologic(11;0.0223)|Acute lymphoblastic leukemia(11;0.0351)	48					A0PJT7|A5PLR1|P02295|P02296|P16106|Q6ISV8|Q6NWP8|Q6NWP9|Q6NXU4|Q71DJ3|Q93081	Missense_Mutation	SNP	ENST00000360408.1	37	c.142G>T	CCDS4596.1	.	.	.	.	.	.	.	.	.	.	.	12.81	2.049489	0.36181	.	.	ENSG00000196966	ENST00000360408	T	0.51071	0.72	4.54	4.54	0.55810	.	.	.	.	.	T	0.58977	0.2160	.	.	.	0.42217	D	0.991838	.	.	.	.	.	.	T	0.64681	-0.6350	6	0.87932	D	0	.	16.8198	0.85743	0.0:0.0:1.0:0.0	.	.	.	.	S	48	ENSP00000353581:A48S	ENSP00000353581:A48S	A	+	1	0	HIST1H3E	26333503	1.000000	0.71417	1.000000	0.80357	0.011000	0.07611	9.550000	0.98110	2.541000	0.85698	0.491000	0.48974	GCT		PASS	0.617	HIST1H3E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040097.1	NM_003532		63	22	63	22	---	---	---	---
BTN2A2	10385	broad.mit.edu	37	6	26393015	26393015	+	Missense_Mutation	SNP	C	C	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr6:26393015C>A	ENST00000356709.4	+	8	1503	c.1392C>A	c.(1390-1392)gaC>gaA	p.D464E	BTN2A2_ENST00000352867.2_Missense_Mutation_p.D348E|BTN2A2_ENST00000432533.2_3'UTR|BTN2A2_ENST00000416795.2_Missense_Mutation_p.D464E|BTN2A2_ENST00000469230.1_Intron|BTN2A2_ENST00000482536.1_Missense_Mutation_p.D254E	NM_001197240.1|NM_006995.4	NP_001184169.1|NP_008926.2	Q8WVV5	BT2A2_HUMAN	butyrophilin, subfamily 2, member A2	464	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				negative regulation of activated T cell proliferation (GO:0046007)|negative regulation of cellular metabolic process (GO:0031324)|negative regulation of cytokine secretion (GO:0050710)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)		p.D464E(1)		breast(2)|endometrium(3)|large_intestine(5)|lung(13)	23						ACATGAGGGACAGATCGCACA	0.547																																						uc003nhq.2																			1	Substitution - Missense(1)		lung(1)		0						c.(1390-1392)GAC>GAA		butyrophilin, subfamily 2, member A2 isoform a							131.0	115.0	121.0					6																	26393015		2203	4300	6503	SO:0001583	missense	10385				negative regulation of activated T cell proliferation|negative regulation of cellular metabolic process|negative regulation of cytokine secretion	integral to membrane		g.chr6:26393015C>A	U90550	CCDS4606.1, CCDS4607.1, CCDS56401.1, CCDS56402.1, CCDS56403.1	6p22.1	2014-01-14			ENSG00000124508	ENSG00000124508		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Butyrophilins"""	1137	protein-coding gene	gene with protein product		613591				10354554, 9149941	Standard	NM_006995		Approved	BTF2, BT2.2, BTN2.2	uc003nhq.3	Q8WVV5	OTTHUMG00000014452	ENST00000356709.4:c.1392C>A	6.37:g.26393015C>A	ENSP00000349143:p.Asp464Glu					BTN2A2_uc011dkg.1_3'UTR|BTN2A2_uc003nhr.2_Missense_Mutation_p.D348E|BTN2A2_uc011dkh.1_Missense_Mutation_p.D254E|BTN2A2_uc003nhs.2_Intron|BTN2A2_uc003nht.2_Missense_Mutation_p.D464E|BTN2A2_uc011dki.1_3'UTR	p.D464E	NM_006995	NP_008926	Q8WVV5	BT2A2_HUMAN			8	1478	+			464			B30.2/SPRY.|Cytoplasmic (Potential).		A6NM84|B4DE97|B4DQ01|E9PH07|O00480	Missense_Mutation	SNP	ENST00000356709.4	37	c.1392C>A	CCDS4606.1	.	.	.	.	.	.	.	.	.	.	.	23.8	4.462592	0.84425	.	.	ENSG00000124508	ENST00000356709;ENST00000352867;ENST00000482536;ENST00000416795	T;T;T;T	0.62498	0.02;0.02;0.02;0.02	3.63	2.73	0.32206	Concanavalin A-like lectin/glucanase (1);SPla/RYanodine receptor subgroup (1);B30.2/SPRY domain (1);SPla/RYanodine receptor SPRY (1);	0.000000	0.53938	D	0.000042	T	0.48021	0.1477	L	0.33093	0.98	0.33597	D	0.601781	D;B;P	0.64830	0.994;0.132;0.889	P;B;P	0.55455	0.776;0.161;0.601	T	0.53613	-0.8414	10	0.62326	D	0.03	.	8.3698	0.32408	0.0:0.8762:0.0:0.1238	.	254;348;464	E9PH07;A6NM84;Q8WVV5	.;.;BT2A2_HUMAN	E	464;348;254;464	ENSP00000349143:D464E;ENSP00000337117:D348E;ENSP00000419451:D254E;ENSP00000399308:D464E	ENSP00000337117:D348E	D	+	3	2	BTN2A2	26500994	0.000000	0.05858	0.884000	0.34674	0.931000	0.56810	-0.154000	0.10130	1.741000	0.51731	0.454000	0.30748	GAC		PASS	0.547	BTN2A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040117.1			5	146	5	146	---	---	---	---
BTN1A1	696	broad.mit.edu	37	6	26501971	26501971	+	Missense_Mutation	SNP	G	G	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr6:26501971G>A	ENST00000244513.6	+	2	299	c.233G>A	c.(232-234)aGg>aAg	p.R78K		NM_001732.2	NP_001723.2	Q13410	BT1A1_HUMAN	butyrophilin, subfamily 1, member A1	78	Ig-like V-type 1.					extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)	receptor activity (GO:0004872)	p.R78K(1)		endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|skin(1)|soft_tissue(1)|urinary_tract(1)	26						CTGGTGCATAGGGACGGGCGC	0.692																																						uc003nif.3																			1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(232-234)AGG>AAG		butyrophilin, subfamily 1, member A1 precursor							20.0	24.0	22.0					6																	26501971		2200	4295	6495	SO:0001583	missense	696					extracellular region|integral to plasma membrane	receptor activity	g.chr6:26501971G>A	U39576	CCDS4614.1	6p22.1	2014-01-14			ENSG00000124557	ENSG00000124557		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Butyrophilins"""	1135	protein-coding gene	gene with protein product		601610		BTN		8114113, 9382921	Standard	NM_001732		Approved	BT, BTN1	uc003nif.4	Q13410	OTTHUMG00000016358	ENST00000244513.6:c.233G>A	6.37:g.26501971G>A	ENSP00000244513:p.Arg78Lys						p.R78K	NM_001732	NP_001723	Q13410	BT1A1_HUMAN			2	253	+			78			Extracellular (Potential).|Ig-like V-type 1.		Q4VAN3|Q4VAN4|Q9H458	Missense_Mutation	SNP	ENST00000244513.6	37	c.233G>A	CCDS4614.1	.	.	.	.	.	.	.	.	.	.	G	5.351	0.250087	0.10130	.	.	ENSG00000124557	ENST00000244513;ENST00000377586	T	0.62941	-0.01	5.87	-2.92	0.05615	Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin V-set, subgroup (1);Immunoglobulin-like fold (1);	1.211620	0.05966	N	0.641483	T	0.15869	0.0382	N	0.22421	0.69	0.09310	N	1	B	0.10296	0.003	B	0.16289	0.015	T	0.05402	-1.0887	10	0.15499	T	0.54	.	0.5046	0.00585	0.2729:0.1319:0.1939:0.4013	.	78	Q13410	BT1A1_HUMAN	K	78	ENSP00000244513:R78K	ENSP00000244513:R78K	R	+	2	0	BTN1A1	26609950	0.000000	0.05858	0.000000	0.03702	0.013000	0.08279	-0.001000	0.12947	-0.400000	0.07656	-0.182000	0.12963	AGG		PASS	0.692	BTN1A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043776.1	NM_001732		29	14	29	14	---	---	---	---
ZNF165	7718	broad.mit.edu	37	6	28056811	28056811	+	Missense_Mutation	SNP	G	G	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr6:28056811G>A	ENST00000377325.1	+	4	1577	c.1021G>A	c.(1021-1023)Gat>Aat	p.D341N	ZSCAN12P1_ENST00000529104.1_RNA	NM_003447.3	NP_003438.1	P49910	ZN165_HUMAN	zinc finger protein 165	341					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.D341N(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(14)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						TTTCAGTGGAGATAAAACTCA	0.378																																						uc003nkg.2																			1	Substitution - Missense(1)		lung(1)		0						c.(1021-1023)GAT>AAT		zinc finger protein 165							49.0	49.0	49.0					6																	28056811		2203	4300	6503	SO:0001583	missense	7718				viral reproduction	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr6:28056811G>A	U78722	CCDS4643.1	6p21	2013-01-09			ENSG00000197279	ENSG00000197279		"""-"", ""Zinc fingers, C2H2-type"""	12953	protein-coding gene	gene with protein product	"""cancer/testis antigen 53"""	600834				7490084	Standard	NM_003447		Approved	ZSCAN7, CT53	uc021yro.1	P49910	OTTHUMG00000014505	ENST00000377325.1:c.1021G>A	6.37:g.28056811G>A	ENSP00000366542:p.Asp341Asn					ZNF165_uc003nkh.2_Missense_Mutation_p.D341N|ZNF165_uc003nki.3_Missense_Mutation_p.D341N|ZSCAN12P1_uc003nkj.3_5'Flank	p.D341N	NM_003447	NP_003438	P49910	ZN165_HUMAN			5	2105	+			341						Missense_Mutation	SNP	ENST00000377325.1	37	c.1021G>A	CCDS4643.1	.	.	.	.	.	.	.	.	.	.	G	14.42	2.529011	0.44969	.	.	ENSG00000197279	ENST00000377325	T	0.06142	3.34	3.09	3.09	0.35607	Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.02970	0.0088	L	0.39566	1.225	0.34571	D	0.713478	B	0.16166	0.016	B	0.11329	0.006	T	0.21314	-1.0249	9	0.72032	D	0.01	.	13.394	0.60840	0.0:0.0:1.0:0.0	.	341	P49910	ZN165_HUMAN	N	341	ENSP00000366542:D341N	ENSP00000366542:D341N	D	+	1	0	ZNF165	28164790	0.999000	0.42202	0.553000	0.28255	0.530000	0.34684	4.798000	0.62510	1.754000	0.51921	0.585000	0.79938	GAT		PASS	0.378	ZNF165-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040173.1	NM_003447		47	21	47	21	---	---	---	---
OR2B3	442184	broad.mit.edu	37	6	29054515	29054515	+	Missense_Mutation	SNP	G	G	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr6:29054515G>T	ENST00000377173.2	-	1	575	c.511C>A	c.(511-513)Cac>Aac	p.H171N		NM_001005226.2	NP_001005226.1	O76000	OR2B3_HUMAN	olfactory receptor, family 2, subfamily B, member 3	171						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.H171N(1)		breast(1)|endometrium(1)|kidney(2)|lung(17)|prostate(1)|skin(2)	24						ACTTCCTGGTGACCACAGCGT	0.488																																						uc003nlx.2																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(511-513)CAC>AAC		olfactory receptor, family 2, subfamily B,							55.0	50.0	52.0					6																	29054515		2203	4300	6503	SO:0001583	missense	442184							g.chr6:29054515G>T		CCDS34358.1	6p22.2-p21.31	2012-08-09	2008-10-22	2008-10-22	ENSG00000204703	ENSG00000204703		"""GPCR / Class A : Olfactory receptors"""	8238	protein-coding gene	gene with protein product			"""olfactory receptor, family 2, subfamily B, member 3 pseudogene"""	OR2B3P			Standard	NM_001005226		Approved	OR6-4	uc003nlx.3	O76000	OTTHUMG00000031226	ENST00000377173.2:c.511C>A	6.37:g.29054515G>T	ENSP00000366378:p.His171Asn						p.H171N	NM_001005226	NP_001005226					1	576	-								B0UYQ1|Q5ST41|Q96R13	Missense_Mutation	SNP	ENST00000377173.2	37	c.511C>A	CCDS34358.1	.	.	.	.	.	.	.	.	.	.	G	8.054	0.766609	0.15983	.	.	ENSG00000204703	ENST00000377173	T	0.36878	1.23	3.83	1.78	0.24846	GPCR, rhodopsin-like superfamily (1);	0.172261	0.27402	U	0.019540	T	0.11452	0.0279	L	0.27053	0.805	0.09310	N	1	P	0.39044	0.656	B	0.40982	0.345	T	0.19451	-1.0305	10	0.26408	T	0.33	.	10.9996	0.47598	0.0:0.0:0.6629:0.3371	.	171	O76000	OR2B3_HUMAN	N	171	ENSP00000366378:H171N	ENSP00000366378:H171N	H	-	1	0	OR2B3	29162494	0.000000	0.05858	0.463000	0.27130	0.922000	0.55478	-0.480000	0.06559	0.547000	0.28938	0.530000	0.56133	CAC		PASS	0.488	OR2B3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076469.2			61	30	61	30	---	---	---	---
GABBR1	2550	broad.mit.edu	37	6	29574167	29574167	+	Splice_Site	SNP	C	C	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr6:29574167C>A	ENST00000377034.4	-	19	2647		c.e19+1		GABBR1_ENST00000377012.4_Splice_Site|GABBR1_ENST00000377016.4_Splice_Site|GABBR1_ENST00000355973.3_Splice_Site|GABBR1_ENST00000376977.3_Splice_Site	NM_001470.2	NP_001461.1	Q9UBS5	GABR1_HUMAN	gamma-aminobutyric acid (GABA) B receptor, 1						adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|gamma-aminobutyric acid signaling pathway (GO:0007214)|negative regulation of adenylate cyclase activity (GO:0007194)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|G-protein coupled receptor heterodimeric complex (GO:0038039)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)	G-protein coupled GABA receptor activity (GO:0004965)	p.?(1)		endometrium(3)|kidney(1)|large_intestine(13)|liver(1)|lung(16)|ovary(5)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47					Baclofen(DB00181)|Progabide(DB00837)|Vigabatrin(DB01080)	ATCCCACACACCAAGCCATGT	0.547																																						uc003nmt.3																			1	Unknown(1)		lung(1)	ovary(5)|liver(1)|skin(1)	7						c.e19+1		gamma-aminobutyric acid (GABA) B receptor 1	Baclofen(DB00181)|Progabide(DB00837)						198.0	200.0	199.0					6																	29574167		1511	2709	4220	SO:0001630	splice_region_variant	2550				gamma-aminobutyric acid signaling pathway|negative regulation of adenylate cyclase activity|synaptic transmission	cell junction|extracellular region|integral to plasma membrane|postsynaptic membrane	G-protein coupled receptor activity|GABA-B receptor activity	g.chr6:29574167C>A	Y11044	CCDS4663.1, CCDS4664.1, CCDS4665.1	6p21.3	2012-08-29			ENSG00000204681	ENSG00000204681		"""GABA receptors"", ""GPCR / Class C : GABA(B) receptors"""	4070	protein-coding gene	gene with protein product	"""GABA-B receptor"""	603540				9753614, 9798068	Standard	NM_001470		Approved	hGB1a, GPRC3A	uc003nmt.4	Q9UBS5	OTTHUMG00000031095	ENST00000377034.4:c.2311+1G>T	6.37:g.29574167C>A						GABBR1_uc003nmp.3_Splice_Site_p.G654_splice|GABBR1_uc003nms.3_Splice_Site_p.G654_splice|GABBR1_uc003nmu.3_Splice_Site_p.G709_splice|GABBR1_uc011dlr.1_Splice_Site_p.G594_splice	p.G771_splice	NM_001470	NP_001461	Q9UBS5	GABR1_HUMAN			19	2647	-								B0UXY7|O95375|O95468|O95975|O96022|Q5STL4|Q5SUJ8|Q5SUL3|Q71SG6|Q86W60|Q9UQQ0	Splice_Site	SNP	ENST00000377034.4	37	c.2311_splice	CCDS4663.1	.	.	.	.	.	.	.	.	.	.	.	19.26	3.792872	0.70452	.	.	ENSG00000204681	ENST00000355973;ENST00000377016;ENST00000485026;ENST00000377012;ENST00000377034	.	.	.	4.3	4.3	0.51218	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.0722	0.72046	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	GABBR1	29682146	1.000000	0.71417	1.000000	0.80357	0.923000	0.55619	7.127000	0.77210	2.309000	0.77851	0.655000	0.94253	.		PASS	0.547	GABBR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076141.3		Intron	141	89	141	89	---	---	---	---
MOG	4340	broad.mit.edu	37	6	29627378	29627378	+	Missense_Mutation	SNP	G	G	C			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr6:29627378G>C	ENST00000376917.3	+	2	600	c.371G>C	c.(370-372)gGt>gCt	p.G124A	MOG_ENST00000431798.2_Missense_Mutation_p.G124A|MOG_ENST00000376898.3_Missense_Mutation_p.G124A|MOG_ENST00000396701.2_Missense_Mutation_p.G124A|MOG_ENST00000376888.2_Intron|MOG_ENST00000490427.1_Intron|MOG_ENST00000376894.4_Missense_Mutation_p.G124A|MOG_ENST00000376891.4_Missense_Mutation_p.G124A|MOG_ENST00000494692.1_Missense_Mutation_p.G124A|MOG_ENST00000533330.2_Missense_Mutation_p.G124A|MOG_ENST00000469603.1_3'UTR|MOG_ENST00000396704.3_Missense_Mutation_p.G124A|MOG_ENST00000483013.1_Intron|MOG_ENST00000416766.2_Missense_Mutation_p.G124A|MOG_ENST00000376902.3_Missense_Mutation_p.G124A	NM_002433.4|NM_206809.3	NP_002424.3|NP_996532.2	Q16653	MOG_HUMAN	myelin oligodendrocyte glycoprotein	124	Ig-like V-type.				cell adhesion (GO:0007155)|central nervous system development (GO:0007417)|positive regulation of MyD88-dependent toll-like receptor signaling pathway (GO:0034126)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.G124A(2)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(8)|ovary(1)|skin(2)	19						GATGAAGGAGGTTTCACCTGC	0.458																																						uc003nnf.2																			2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(370-372)GGT>GCT		myelin oligodendrocyte glycoprotein isoform							62.0	63.0	63.0					6																	29627378		1511	2709	4220	SO:0001583	missense	4340				cell adhesion|central nervous system development|positive regulation of MyD88-dependent toll-like receptor signaling pathway	integral to membrane|plasma membrane		g.chr6:29627378G>C		CCDS4667.1, CCDS34366.1, CCDS34367.1, CCDS34368.1, CCDS34369.1, CCDS34370.1, CCDS47394.1, CCDS47395.1, CCDS47395.2, CCDS54977.1	6p22.1	2014-01-16			ENSG00000204655	ENSG00000204655		"""Immunoglobulin superfamily / V-set domain containing"", ""Butyrophilins"""	7197	protein-coding gene	gene with protein product		159465					Standard	NM_002433		Approved	BTN6, BTNL11	uc003nne.3	Q16653	OTTHUMG00000031099	ENST00000376917.3:c.371G>C	6.37:g.29627378G>C	ENSP00000366115:p.Gly124Ala					MOG_uc003qzk.1_Missense_Mutation_p.G124A|MOG_uc010kle.1_Intron|MOG_uc010klf.1_Intron|MOG_uc003nmy.1_Missense_Mutation_p.G124A|MOG_uc003nmz.2_Missense_Mutation_p.G124A|MOG_uc011dlt.1_Missense_Mutation_p.G54A|MOG_uc003nna.2_Intron|MOG_uc011dlu.1_Intron|MOG_uc011dlv.1_Intron|MOG_uc003nnd.2_Missense_Mutation_p.G124A|MOG_uc003nne.2_Missense_Mutation_p.G124A|MOG_uc003nng.2_Missense_Mutation_p.G124A|MOG_uc003nnh.2_Missense_Mutation_p.G124A|MOG_uc003nni.2_Missense_Mutation_p.G124A|MOG_uc003nnj.2_Missense_Mutation_p.G124A|MOG_uc003nnk.2_Missense_Mutation_p.G124A	p.G124A	NM_206809	NP_996532	Q16653	MOG_HUMAN			2	549	+			124			Ig-like V-type.|Extracellular (Potential).		A6NDR4|A6NNJ9|A8MY31|B0UZR9|E9PGF0|F8W9D5|O00713|O00714|O00715|Q13054|Q13055|Q14855|Q29ZN8|Q56UY0|Q5JNX7|Q5JNY1|Q5JNY2|Q5JNY4|Q5SSB5|Q5SSB6|Q5STL9|Q5STM0|Q5STM1|Q5STM2|Q5STM5|Q5SUK5|Q5SUK7|Q5SUK8|Q5SUK9|Q5SUL0|Q5SUL1|Q8IYG5|Q92891|Q92892|Q92893|Q92894|Q92895|Q93053|Q96KU9|Q96KV0|Q96KV1|Q99605	Missense_Mutation	SNP	ENST00000376917.3	37	c.371G>C	CCDS34370.1	.	.	.	.	.	.	.	.	.	.	G	13.13	2.145307	0.37825	.	.	ENSG00000204655	ENST00000376917;ENST00000376902;ENST00000533330;ENST00000376894;ENST00000416766;ENST00000376891;ENST00000376898;ENST00000431798;ENST00000396701;ENST00000494692;ENST00000396704	T;T;T;T;T;T;T;T;T;T;T	0.64260	-0.09;-0.09;-0.09;-0.09;-0.09;-0.09;-0.09;-0.09;-0.09;-0.09;-0.09	5.72	4.84	0.62591	Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin V-set, subgroup (1);Immunoglobulin-like fold (1);	0.108661	0.42548	D	0.000700	T	0.44561	0.1299	N	0.14661	0.345	0.09310	N	1	D;D;D;D;D;D;D;D;P;D;P	0.89917	0.994;1.0;1.0;1.0;1.0;1.0;1.0;1.0;0.944;0.976;0.921	D;D;D;D;D;D;D;D;P;P;P	0.97110	0.923;1.0;0.999;0.999;1.0;0.999;0.999;1.0;0.702;0.617;0.843	T	0.41574	-0.9501	10	0.13470	T	0.59	.	11.7017	0.51575	0.0:0.0:0.6786:0.3214	.	54;124;124;124;124;124;124;124;124;124;124	B7Z2X8;C9JTE0;F8W9D5;Q16653-2;Q16653-3;Q16653-6;Q16653-7;Q16653;Q16653-5;Q16653-10;Q5SUK5	.;.;.;.;.;.;.;MOG_HUMAN;.;.;.	A	124	ENSP00000366115:G124A;ENSP00000366100:G124A;ENSP00000431709:G124A;ENSP00000366091:G124A;ENSP00000409394:G124A;ENSP00000366088:G124A;ENSP00000366095:G124A;ENSP00000410866:G124A;ENSP00000379929:G124A;ENSP00000417405:G124A;ENSP00000379932:G124A	ENSP00000366088:G124A	G	+	2	0	MOG	29735357	0.006000	0.16342	0.238000	0.24106	0.997000	0.91878	1.098000	0.31000	1.392000	0.46585	0.655000	0.94253	GGT		PASS	0.458	MOG-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000076160.3	NM_002433		77	21	77	21	---	---	---	---
MOG	4340	broad.mit.edu	37	6	29633931	29633931	+	Missense_Mutation	SNP	C	C	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr6:29633931C>A	ENST00000376917.3	+	3	668	c.439C>A	c.(439-441)Cct>Act	p.P147T	MOG_ENST00000431798.2_Missense_Mutation_p.P147T|MOG_ENST00000376898.3_Missense_Mutation_p.P147T|MOG_ENST00000396701.2_Missense_Mutation_p.P147T|MOG_ENST00000376888.2_Missense_Mutation_p.P31T|MOG_ENST00000490427.1_Missense_Mutation_p.P31T|MOG_ENST00000376894.4_Missense_Mutation_p.P147T|MOG_ENST00000376891.4_Missense_Mutation_p.P147T|MOG_ENST00000494692.1_Missense_Mutation_p.P147T|MOG_ENST00000533330.2_3'UTR|MOG_ENST00000396704.3_Missense_Mutation_p.P147T|MOG_ENST00000483013.1_Missense_Mutation_p.P31T|MOG_ENST00000416766.2_Intron|MOG_ENST00000376902.3_3'UTR	NM_002433.4|NM_206809.3	NP_002424.3|NP_996532.2	Q16653	MOG_HUMAN	myelin oligodendrocyte glycoprotein	147					cell adhesion (GO:0007155)|central nervous system development (GO:0007417)|positive regulation of MyD88-dependent toll-like receptor signaling pathway (GO:0034126)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.P147T(2)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(8)|ovary(1)|skin(2)	19						cctttcagatcctttctactg	0.527																																						uc003nnf.2																			2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(439-441)CCT>ACT		myelin oligodendrocyte glycoprotein isoform							272.0	218.0	237.0					6																	29633931		1511	2709	4220	SO:0001583	missense	4340				cell adhesion|central nervous system development|positive regulation of MyD88-dependent toll-like receptor signaling pathway	integral to membrane|plasma membrane		g.chr6:29633931C>A		CCDS4667.1, CCDS34366.1, CCDS34367.1, CCDS34368.1, CCDS34369.1, CCDS34370.1, CCDS47394.1, CCDS47395.1, CCDS47395.2, CCDS54977.1	6p22.1	2014-01-16			ENSG00000204655	ENSG00000204655		"""Immunoglobulin superfamily / V-set domain containing"", ""Butyrophilins"""	7197	protein-coding gene	gene with protein product		159465					Standard	NM_002433		Approved	BTN6, BTNL11	uc003nne.3	Q16653	OTTHUMG00000031099	ENST00000376917.3:c.439C>A	6.37:g.29633931C>A	ENSP00000366115:p.Pro147Thr					MOG_uc003nmy.1_Missense_Mutation_p.P147T|MOG_uc003nmz.2_3'UTR|MOG_uc011dlt.1_Missense_Mutation_p.P77T|MOG_uc003nna.2_Missense_Mutation_p.P31T|MOG_uc011dlu.1_Missense_Mutation_p.P31T|MOG_uc011dlv.1_Missense_Mutation_p.P31T|MOG_uc003nnd.2_3'UTR|MOG_uc003nne.2_Missense_Mutation_p.P147T|MOG_uc003nng.2_Missense_Mutation_p.P147T|MOG_uc003nnh.2_Missense_Mutation_p.P147T|MOG_uc003nni.2_Missense_Mutation_p.P147T|MOG_uc003nnj.2_Missense_Mutation_p.P147T|MOG_uc003nnk.2_Missense_Mutation_p.P147T	p.P147T	NM_206809	NP_996532	Q16653	MOG_HUMAN			3	617	+			147			Extracellular (Potential).		A6NDR4|A6NNJ9|A8MY31|B0UZR9|E9PGF0|F8W9D5|O00713|O00714|O00715|Q13054|Q13055|Q14855|Q29ZN8|Q56UY0|Q5JNX7|Q5JNY1|Q5JNY2|Q5JNY4|Q5SSB5|Q5SSB6|Q5STL9|Q5STM0|Q5STM1|Q5STM2|Q5STM5|Q5SUK5|Q5SUK7|Q5SUK8|Q5SUK9|Q5SUL0|Q5SUL1|Q8IYG5|Q92891|Q92892|Q92893|Q92894|Q92895|Q93053|Q96KU9|Q96KV0|Q96KV1|Q99605	Missense_Mutation	SNP	ENST00000376917.3	37	c.439C>A	CCDS34370.1	.	.	.	.	.	.	.	.	.	.	C	24.2	4.501038	0.85176	.	.	ENSG00000204655	ENST00000376917;ENST00000376888;ENST00000376894;ENST00000483013;ENST00000490427;ENST00000376891;ENST00000376898;ENST00000431798;ENST00000396701;ENST00000494692;ENST00000396704	T;T;T;T;T;T;T;T;T;T;T	0.34859	1.4;1.42;1.4;1.35;1.34;1.4;1.4;1.4;1.4;1.4;1.4	5.71	5.71	0.89125	Immunoglobulin-like fold (1);	0.000000	0.56097	D	0.000028	T	0.50667	0.1629	M	0.62723	1.935	0.80722	D	1	D;D;D;D;D;P;D;D;D;D;D;D	0.89917	0.998;0.998;1.0;1.0;1.0;0.819;1.0;1.0;1.0;1.0;0.996;1.0	D;D;D;D;D;P;D;D;D;D;P;D	0.91635	0.961;0.961;0.999;0.998;0.998;0.539;0.997;0.998;0.997;0.999;0.848;0.998	T	0.52102	-0.8620	10	0.87932	D	0	.	15.3507	0.74384	0.0:1.0:0.0:0.0	.	31;31;77;147;147;147;147;147;147;147;31;147	E9PG44;E9PGF0;B7Z2X8;F8W9D5;Q16653-2;Q16653-3;Q16653-6;Q16653-7;Q16653;Q16653-5;Q16653-4;Q5SUK5	.;.;.;.;.;.;.;.;MOG_HUMAN;.;.;.	T	147;31;147;31;31;147;147;147;147;147;147	ENSP00000366115:P147T;ENSP00000366085:P31T;ENSP00000366091:P147T;ENSP00000418090:P31T;ENSP00000420350:P31T;ENSP00000366088:P147T;ENSP00000366095:P147T;ENSP00000410866:P147T;ENSP00000379929:P147T;ENSP00000417405:P147T;ENSP00000379932:P147T	ENSP00000366085:P31T	P	+	1	0	MOG	29741910	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	3.542000	0.53625	2.686000	0.91538	0.655000	0.94253	CCT		PASS	0.527	MOG-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000076160.3	NM_002433		176	83	176	83	---	---	---	---
DDR1	780	broad.mit.edu	37	6	30859793	30859793	+	Missense_Mutation	SNP	G	G	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr6:30859793G>T	ENST00000324771.8	+	9	1228	c.680G>T	c.(679-681)gGt>gTt	p.G227V	DDR1_ENST00000376568.3_Missense_Mutation_p.G227V|DDR1_ENST00000513240.1_Missense_Mutation_p.G227V|DDR1_ENST00000508472.1_3'UTR|DDR1_ENST00000361741.4_5'UTR|DDR1_ENST00000418800.2_Missense_Mutation_p.G227V|DDR1_ENST00000508312.1_Missense_Mutation_p.G245V|DDR1_ENST00000452441.1_Missense_Mutation_p.G227V|DDR1_ENST00000454612.2_Missense_Mutation_p.G227V|DDR1_ENST00000376569.3_Missense_Mutation_p.G227V|DDR1_ENST00000446312.1_Missense_Mutation_p.V194F|MIR4640_ENST00000581824.1_RNA|DDR1_ENST00000376570.4_Missense_Mutation_p.G227V|DDR1_ENST00000376567.2_Missense_Mutation_p.G227V|DDR1_ENST00000376575.3_Missense_Mutation_p.G227V			Q08345	DDR1_HUMAN	discoidin domain receptor tyrosine kinase 1	227	DS-like domain.				branching involved in mammary gland duct morphogenesis (GO:0060444)|cell adhesion (GO:0007155)|collagen-activated tyrosine kinase receptor signaling pathway (GO:0038063)|ear development (GO:0043583)|embryo implantation (GO:0007566)|extracellular matrix organization (GO:0030198)|lactation (GO:0007595)|mammary gland alveolus development (GO:0060749)|negative regulation of cell proliferation (GO:0008285)|peptidyl-tyrosine autophosphorylation (GO:0038083)|protein autophosphorylation (GO:0046777)|regulation of cell growth (GO:0001558)|regulation of cell-matrix adhesion (GO:0001952)|regulation of extracellular matrix disassembly (GO:0010715)|smooth muscle cell migration (GO:0014909)|smooth muscle cell-matrix adhesion (GO:0061302)|wound healing, spreading of cells (GO:0044319)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|collagen binding (GO:0005518)|metal ion binding (GO:0046872)|protein tyrosine kinase collagen receptor activity (GO:0038062)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)	p.G227V(2)		central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(14)|ovary(1)|prostate(1)|skin(1)	29					Imatinib(DB00619)	CAGTATGGGGGTCTGGGCCAG	0.597																																						uc003nrr.2																			2	Substitution - Missense(2)		lung(2)	lung(4)|central_nervous_system(3)|large_intestine(1)|ovary(1)	9						c.(679-681)GGT>GTT		discoidin domain receptor family, member 1	Imatinib(DB00619)						98.0	98.0	98.0					6																	30859793		2203	4300	6503	SO:0001583	missense	780				cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	extracellular region|integral to plasma membrane	ATP binding|protein binding|protein binding|transmembrane receptor protein tyrosine kinase activity	g.chr6:30859793G>T	X99031	CCDS4690.1, CCDS34385.1, CCDS47396.1, CCDS56411.1, CCDS75419.1	6p21.33	2010-02-17	2008-01-23		ENSG00000204580	ENSG00000204580	2.7.10.1	"""CD molecules"""	2730	protein-coding gene	gene with protein product		600408	"""discoidin domain receptor family, member 1"""	NTRK4, PTK3A, NEP, CAK, EDDR1		7789998	Standard	NM_001954		Approved	RTK6, CD167	uc003nrv.3	Q08345	OTTHUMG00000031236	ENST00000324771.8:c.680G>T	6.37:g.30859793G>T	ENSP00000318217:p.Gly227Val					DDR1_uc010jse.2_Missense_Mutation_p.G227V|DDR1_uc003nrq.2_Missense_Mutation_p.G227V|DDR1_uc003nrs.2_Missense_Mutation_p.G227V|DDR1_uc003nrt.2_Missense_Mutation_p.G227V|DDR1_uc011dms.1_Missense_Mutation_p.G245V|DDR1_uc003nru.2_Missense_Mutation_p.G227V|DDR1_uc011dmu.1_Missense_Mutation_p.V194F|DDR1_uc003nrv.2_Missense_Mutation_p.G227V|DDR1_uc003nrw.1_Missense_Mutation_p.G26V|DDR1_uc003nry.1_5'Flank|DDR1_uc003nrx.1_5'Flank	p.G227V	NM_013993	NP_054699	Q08345	DDR1_HUMAN			8	939	+			227			Extracellular (Potential).		B5A975|B5A976|B7Z2K0|Q14196|Q16562|Q2L6H3|Q4LE50|Q5ST11|Q5ST12|Q6NSK4|Q9UD35|Q9UD36|Q9UD37|Q9UD86|Q9UDL2	Missense_Mutation	SNP	ENST00000324771.8	37	c.680G>T	CCDS34385.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	17.25|17.25	3.341857|3.341857	0.61073|0.61073	.|.	.|.	ENSG00000204580|ENSG00000204580	ENST00000460944;ENST00000324771;ENST00000418800;ENST00000454612;ENST00000376569;ENST00000376575;ENST00000376570;ENST00000428153;ENST00000376568;ENST00000452441;ENST00000515219;ENST00000508312;ENST00000376567;ENST00000513240;ENST00000417521|ENST00000446312	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T|D	0.46063|0.98090	1.54;1.54;1.54;1.54;1.54;1.54;1.54;1.54;1.54;1.54;0.88;1.54;1.54;1.54;1.54|-4.71	3.82|3.82	3.82|3.82	0.43975|0.43975	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|D	0.95262|0.95262	0.8463|0.8463	M|M	0.86178|0.86178	2.8|2.8	0.80722|0.80722	D|D	1|1	D;D;D;D|P	0.89917|0.35174	1.0;1.0;1.0;1.0|0.488	D;D;D;D|B	0.97110|0.36092	1.0;0.999;1.0;0.999|0.217	D|D	0.95691|0.95691	0.8740|0.8740	10|9	0.87932|0.10636	D|T	0|0.68	.|.	13.5676|13.5676	0.61828|0.61828	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	245;23;227;227|194	B7Z2K0;A2ABM8;Q08345-5;Q08345|Q08345-4	.;.;.;DDR1_HUMAN|.	V|F	227;227;227;227;227;227;227;227;227;227;69;245;227;227;23|194	ENSP00000426420:G227V;ENSP00000318217:G227V;ENSP00000407699:G227V;ENSP00000406091:G227V;ENSP00000365753:G227V;ENSP00000365759:G227V;ENSP00000365754:G227V;ENSP00000390593:G227V;ENSP00000365752:G227V;ENSP00000405039:G227V;ENSP00000421152:G69V;ENSP00000422442:G245V;ENSP00000365751:G227V;ENSP00000427552:G227V;ENSP00000398682:G23V|ENSP00000405998:V194F	ENSP00000318217:G227V|ENSP00000405998:V194F	G|V	+|+	2|1	0|0	DDR1|DDR1	30967772|30967772	1.000000|1.000000	0.71417|0.71417	0.988000|0.988000	0.46212|0.46212	0.540000|0.540000	0.34992|0.34992	9.120000|9.120000	0.94369|0.94369	2.122000|2.122000	0.65172|0.65172	0.462000|0.462000	0.41574|0.41574	GGT|GTC		PASS	0.597	DDR1-005	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000076494.3	NM_013994		172	71	172	71	---	---	---	---
VARS	7407	broad.mit.edu	37	6	31749688	31749688	+	Silent	SNP	C	C	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr6:31749688C>A	ENST00000375663.3	-	19	2723	c.2283G>T	c.(2281-2283)gcG>gcT	p.A761A	VARS_ENST00000444930.2_3'UTR|VARS_ENST00000482996.1_5'UTR	NM_006295.2	NP_006286.1	P26640	SYVC_HUMAN	valyl-tRNA synthetase	761					gene expression (GO:0010467)|tRNA aminoacylation for protein translation (GO:0006418)|valyl-tRNA aminoacylation (GO:0006438)	cytosol (GO:0005829)|mitochondrion (GO:0005739)	aminoacyl-tRNA editing activity (GO:0002161)|ATP binding (GO:0005524)|valine-tRNA ligase activity (GO:0004832)	p.A761A(1)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(18)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	30					L-Valine(DB00161)	CCCGGGCCTCCGCCTCATTGC	0.627																																						uc003nxe.2																			1	Substitution - coding silent(1)		lung(1)	upper_aerodigestive_tract(1)|ovary(1)|skin(1)	3						c.(2281-2283)GCG>GCT		valyl-tRNA synthetase	L-Valine(DB00161)						158.0	178.0	171.0					6																	31749688		1511	2709	4220	SO:0001819	synonymous_variant	7407				translational elongation|valyl-tRNA aminoacylation	cytosol	ATP binding|protein binding|valine-tRNA ligase activity	g.chr6:31749688C>A	BC012808	CCDS34412.1	6p21.3	2011-07-01		2005-07-05	ENSG00000204394	ENSG00000204394	6.1.1.9	"""Aminoacyl tRNA synthetases / Class I"""	12651	protein-coding gene	gene with protein product	"""valine tRNA ligase 1, cytoplasmic"""	192150	"""valyl-tRNA synthetase 2"""	VARS2		15779907	Standard	XM_005249362		Approved		uc003nxe.3	P26640	OTTHUMG00000031286	ENST00000375663.3:c.2283G>T	6.37:g.31749688C>A						VARS_uc003nxf.1_5'Flank|VARS_uc011doi.1_RNA	p.A761A	NM_006295	NP_006286	P26640	SYVC_HUMAN			19	2706	-			761					B0V1N1|B4DZ61|Q5JQ90|Q96E77|Q9UQM2	Silent	SNP	ENST00000375663.3	37	c.2283G>T	CCDS34412.1	.	.	.	.	.	.	.	.	.	.	C	6.666	0.491421	0.12702	.	.	ENSG00000204394	ENST00000428445	.	.	.	5.64	-7.22	0.01485	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-8.2172	2.4636	0.04547	0.1615:0.1522:0.1958:0.4905	.	.	.	.	X	79	.	.	G	-	1	0	VARS	31857667	0.000000	0.05858	0.393000	0.26258	0.672000	0.39443	-3.575000	0.00426	-1.839000	0.01186	-0.736000	0.03550	GGA		PASS	0.627	VARS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076619.2	NM_006295		205	96	205	96	---	---	---	---
VARS	7407	broad.mit.edu	37	6	31760824	31760824	+	Missense_Mutation	SNP	C	C	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr6:31760824C>A	ENST00000375663.3	-	3	901	c.461G>T	c.(460-462)gGg>gTg	p.G154V	VARS_ENST00000444930.2_Intron	NM_006295.2	NP_006286.1	P26640	SYVC_HUMAN	valyl-tRNA synthetase	154	GST C-terminal.				gene expression (GO:0010467)|tRNA aminoacylation for protein translation (GO:0006418)|valyl-tRNA aminoacylation (GO:0006438)	cytosol (GO:0005829)|mitochondrion (GO:0005739)	aminoacyl-tRNA editing activity (GO:0002161)|ATP binding (GO:0005524)|valine-tRNA ligase activity (GO:0004832)	p.G154V(1)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(18)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	30					L-Valine(DB00161)	GGGGGCCTCCCCGGCCAAGTA	0.652																																						uc003nxe.2																			1	Substitution - Missense(1)		lung(1)	upper_aerodigestive_tract(1)|ovary(1)|skin(1)	3						c.(460-462)GGG>GTG		valyl-tRNA synthetase	L-Valine(DB00161)						33.0	37.0	35.0					6																	31760824		1511	2709	4220	SO:0001583	missense	7407				translational elongation|valyl-tRNA aminoacylation	cytosol	ATP binding|protein binding|valine-tRNA ligase activity	g.chr6:31760824C>A	BC012808	CCDS34412.1	6p21.3	2011-07-01		2005-07-05	ENSG00000204394	ENSG00000204394	6.1.1.9	"""Aminoacyl tRNA synthetases / Class I"""	12651	protein-coding gene	gene with protein product	"""valine tRNA ligase 1, cytoplasmic"""	192150	"""valyl-tRNA synthetase 2"""	VARS2		15779907	Standard	XM_005249362		Approved		uc003nxe.3	P26640	OTTHUMG00000031286	ENST00000375663.3:c.461G>T	6.37:g.31760824C>A	ENSP00000364815:p.Gly154Val					VARS_uc011doi.1_Intron	p.G154V	NM_006295	NP_006286	P26640	SYVC_HUMAN			3	884	-			154			GST C-terminal.		B0V1N1|B4DZ61|Q5JQ90|Q96E77|Q9UQM2	Missense_Mutation	SNP	ENST00000375663.3	37	c.461G>T	CCDS34412.1	.	.	.	.	.	.	.	.	.	.	C	24.0	4.483454	0.84854	.	.	ENSG00000204394	ENST00000375663;ENST00000440048	T;T	0.07021	3.23;3.23	4.94	4.94	0.65067	Glutathione S-transferase, C-terminal-like (2);Glutathione S-transferase/chloride channel, C-terminal (1);Glutathione S-transferase, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.29093	0.0723	M	0.93106	3.38	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.30031	-0.9992	10	0.87932	D	0	-14.2401	13.6841	0.62506	0.0:1.0:0.0:0.0	.	154	P26640	SYVC_HUMAN	V	154	ENSP00000364815:G154V;ENSP00000413925:G154V	ENSP00000364815:G154V	G	-	2	0	VARS	31868803	0.996000	0.38824	0.972000	0.41901	0.951000	0.60555	3.735000	0.55044	2.287000	0.76781	0.313000	0.20887	GGG		PASS	0.652	VARS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076619.2	NM_006295		27	22	27	22	---	---	---	---
BRD2	6046	broad.mit.edu	37	6	32944196	32944196	+	Silent	SNP	G	G	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr6:32944196G>T	ENST00000374825.4	+	6	2481	c.780G>T	c.(778-780)ccG>ccT	p.P260P	BRD2_ENST00000395287.1_Silent_p.P260P|BRD2_ENST00000395289.2_Silent_p.P260P|BRD2_ENST00000443797.2_Silent_p.P140P|BRD2_ENST00000449085.2_Silent_p.P213P|BRD2_ENST00000374831.4_Silent_p.P260P	NM_005104.3	NP_005095.1	P25440	BRD2_HUMAN	bromodomain containing 2	260			P -> Q (in dbSNP:rs35294809). {ECO:0000269|PubMed:17344846}.		chromatin modification (GO:0016568)|nucleosome assembly (GO:0006334)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|lysine-acetylated histone binding (GO:0070577)	p.P260P(1)		central_nervous_system(3)|stomach(2)	5						CTGGACCCCCGCTCCTTGCTG	0.542																																						uc003ocn.3																			1	Substitution - coding silent(1)		lung(1)	central_nervous_system(3)|stomach(2)	5						c.(778-780)CCG>CCT		bromodomain containing 2							97.0	94.0	95.0					6																	32944196		1510	2709	4219	SO:0001819	synonymous_variant	6046				spermatogenesis	nucleus	protein serine/threonine kinase activity	g.chr6:32944196G>T	X96670	CCDS4762.1, CCDS56420.1, CCDS56421.1	6p21.3	2010-12-23	2002-01-14		ENSG00000204256	ENSG00000204256			1103	protein-coding gene	gene with protein product		601540	"""bromodomain-containing 2"""			1352711, 8781126	Standard	NM_005104		Approved	KIAA9001, RING3, D6S113E, NAT, FSRG1	uc021ywf.1	P25440	OTTHUMG00000031241	ENST00000374825.4:c.780G>T	6.37:g.32944196G>T						BRD2_uc003oco.2_RNA|BRD2_uc003ocq.3_Silent_p.P260P|BRD2_uc003ocp.3_Silent_p.P140P|BRD2_uc010juh.2_Silent_p.P260P	p.P260P	NM_005104	NP_005095	P25440	BRD2_HUMAN			6	2481	+			260					A2AAU0|B0S7P0|B1AZT1|O00699|O00700|Q15310|Q5STC9|Q63HQ9|Q658Y7|Q6P3U2|Q969U4	Silent	SNP	ENST00000374825.4	37	c.780G>T	CCDS4762.1	.	.	.	.	.	.	.	.	.	.	G	7.608	0.674114	0.14841	.	.	ENSG00000204256	ENST00000456339;ENST00000449025	.	.	.	5.63	-11.3	0.00108	.	.	.	.	.	T	0.11367	0.0277	.	.	.	0.26590	N	0.97322	.	.	.	.	.	.	T	0.16541	-1.0399	4	.	.	.	-6.0706	11.1693	0.48563	0.6066:0.0:0.3137:0.0797	.	.	.	.	L	262;266	.	.	R	+	2	0	BRD2	33052174	0.000000	0.05858	0.500000	0.27589	0.993000	0.82548	-4.285000	0.00259	-2.010000	0.00953	-0.311000	0.09066	CGC		PASS	0.542	BRD2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000076503.2			92	49	92	49	---	---	---	---
TCP11	6954	broad.mit.edu	37	6	35108619	35108619	+	Missense_Mutation	SNP	G	G	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr6:35108619G>A	ENST00000512012.1	-	1	185	c.29C>T	c.(28-30)cCg>cTg	p.P10L	TCP11_ENST00000373979.2_5'UTR|TCP11_ENST00000418521.2_Intron|TCP11_ENST00000373974.4_Intron|TCP11_ENST00000244645.3_5'UTR|TCP11_ENST00000444780.2_Missense_Mutation_p.P23L|TCP11_ENST00000311875.5_Missense_Mutation_p.P23L|TCP11_ENST00000412155.2_Intron|TCP11_ENST00000510465.1_5'UTR			Q8WWU5	TCP11_HUMAN	t-complex 11, testis-specific	10					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)		p.P23L(1)		breast(1)|kidney(5)|large_intestine(3)|lung(10)|ovary(3)|prostate(1)|skin(4)	27						AGGATATTTCGGGGGCACACT	0.612																																						uc003okd.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|skin(2)	5						c.(67-69)CCG>CTG		t-complex 11 isoform 1							40.0	42.0	41.0					6																	35108619		2053	4189	6242	SO:0001583	missense	6954				cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane		g.chr6:35108619G>A		CCDS4799.1, CCDS47413.1, CCDS59015.1, CCDS59016.1, CCDS59017.1, CCDS59018.1	6p21.31	2012-09-20	2012-09-20		ENSG00000124678	ENSG00000124678			11658	protein-coding gene	gene with protein product	"""fertilization-promoting peptide receptor"""	186982	"""t-complex 11 (a murine tcp homolog)"", ""t-complex 11 homolog (mouse)"""	D6S230E		1427894, 11756566, 21597245	Standard	NM_001093728		Approved	KIAA0229, FPPR	uc003okd.2	Q8WWU5	OTTHUMG00000014560	ENST00000512012.1:c.29C>T	6.37:g.35108619G>A	ENSP00000425995:p.Pro10Leu					TCP11_uc003ojz.1_5'UTR|TCP11_uc003oka.2_5'UTR|TCP11_uc003okb.2_5'UTR|TCP11_uc003okc.2_5'UTR|TCP11_uc011dsu.1_Missense_Mutation_p.P10L|TCP11_uc011dsv.1_Intron|TCP11_uc011dsw.1_Intron	p.P23L	NM_001093728	NP_001087197	Q8WWU5	TCP11_HUMAN			2	249	-			10					B2RCE9|B3KQ27|B7Z7B5|B7Z7G1|B7Z7H4|B7Z7S8|E7EP29|J3KNG1|Q8NF85|Q9NQZ9|Q9NR39	Missense_Mutation	SNP	ENST00000512012.1	37	c.68C>T		.	.	.	.	.	.	.	.	.	.	G	2.879	-0.232312	0.05983	.	.	ENSG00000124678	ENST00000311875;ENST00000444780;ENST00000512012	T;T;T	0.10763	2.84;2.99;2.84	3.36	-1.68	0.08212	.	2.510630	0.01858	N	0.036419	T	0.01222	0.0040	N	0.08118	0	0.09310	N	0.999999	B;B	0.06786	0.0;0.001	B;B	0.04013	0.0;0.001	T	0.42599	-0.9442	10	0.27082	T	0.32	.	0.3408	0.00333	0.3888:0.2098:0.2099:0.1915	.	23;83	B7Z7B5;Q5TB88	.;.	L	23;23;10	ENSP00000308708:P23L;ENSP00000404479:P23L;ENSP00000425995:P10L	ENSP00000308708:P23L	P	-	2	0	TCP11	35216597	0.001000	0.12720	0.000000	0.03702	0.038000	0.13279	-0.359000	0.07632	-0.330000	0.08514	0.650000	0.86243	CCG		PASS	0.612	TCP11-014	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000370354.1	NM_001093728		31	4	31	4	---	---	---	---
SLC26A8	116369	broad.mit.edu	37	6	35923176	35923176	+	Missense_Mutation	SNP	G	G	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr6:35923176G>T	ENST00000490799.1	-	17	2338	c.1985C>A	c.(1984-1986)cCa>cAa	p.P662Q	SLC26A8_ENST00000394602.2_Missense_Mutation_p.P557Q|SLC26A8_ENST00000355574.2_Missense_Mutation_p.P662Q	NM_052961.3	NP_443193.1			solute carrier family 26 (anion exchanger), member 8									p.P662Q(1)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(6)|lung(16)|ovary(3)|prostate(6)|skin(3)|upper_aerodigestive_tract(2)	46						TACTGTGTATGGCACTTGGTC	0.448																																						uc003olm.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(1984-1986)CCA>CAA		solute carrier family 26, member 8 isoform a							264.0	247.0	252.0					6																	35923176		2203	4300	6503	SO:0001583	missense	116369				cell differentiation|meiosis|multicellular organismal development|spermatogenesis	integral to membrane|plasma membrane	anion:anion antiporter activity|chloride channel activity|oxalate transmembrane transporter activity|protein binding|sulfate transmembrane transporter activity	g.chr6:35923176G>T	AF331522	CCDS4813.1, CCDS4814.1	6p21	2013-07-18	2013-07-18		ENSG00000112053	ENSG00000112053		"""Solute carriers"""	14468	protein-coding gene	gene with protein product		608480	"""solute carrier family 26, member 8"""			11834742, 11829495	Standard	NM_001193476		Approved		uc003olm.3	Q96RN1	OTTHUMG00000014586	ENST00000490799.1:c.1985C>A	6.37:g.35923176G>T	ENSP00000417638:p.Pro662Gln					SLC26A8_uc010jwa.2_RNA|SLC26A8_uc003olk.2_Missense_Mutation_p.P244Q|SLC26A8_uc003oln.2_Missense_Mutation_p.P662Q|SLC26A8_uc003oll.2_Missense_Mutation_p.P557Q	p.P662Q	NM_052961	NP_443193	Q96RN1	S26A8_HUMAN			17	2096	-			662			STAS.|Cytoplasmic (Potential).			Missense_Mutation	SNP	ENST00000490799.1	37	c.1985C>A	CCDS4813.1	.	.	.	.	.	.	.	.	.	.	G	12.47	1.948418	0.34377	.	.	ENSG00000112053	ENST00000490799;ENST00000394602;ENST00000355574	D;D;D	0.95238	-3.32;-3.65;-3.32	5.01	5.01	0.66863	Sulphate transporter/antisigma-factor antagonist STAS (3);	0.433164	0.22269	N	0.062282	D	0.94212	0.8142	L	0.54323	1.7	0.09310	N	1	P;D;D	0.71674	0.509;0.998;0.998	B;D;P	0.65443	0.203;0.935;0.906	D	0.88564	0.3125	10	0.31617	T	0.26	.	14.0051	0.64459	0.0:0.0:1.0:0.0	.	662;557;244	Q96RN1;Q96RN1-2;Q96RN1-3	S26A8_HUMAN;.;.	Q	662;557;662	ENSP00000417638:P662Q;ENSP00000378100:P557Q;ENSP00000347778:P662Q	ENSP00000347778:P662Q	P	-	2	0	SLC26A8	36031154	0.040000	0.19996	0.024000	0.17045	0.009000	0.06853	1.472000	0.35376	2.770000	0.95276	0.655000	0.94253	CCA		PASS	0.448	SLC26A8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040325.2			109	54	109	54	---	---	---	---
C6orf89	221477	broad.mit.edu	37	6	36884283	36884283	+	Missense_Mutation	SNP	C	C	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr6:36884283C>T	ENST00000480824.2	+	7	1052	c.758C>T	c.(757-759)cCa>cTa	p.P253L	C6orf89_ENST00000510325.2_Missense_Mutation_p.P147L|C6orf89_ENST00000373685.1_Missense_Mutation_p.P253L|C6orf89_ENST00000359359.2_Missense_Mutation_p.P147L|C6orf89_ENST00000355190.3_Missense_Mutation_p.P260L			Q6UWU4	CF089_HUMAN	chromosome 6 open reading frame 89	253					epithelial cell proliferation (GO:0050673)|positive regulation of cell cycle (GO:0045787)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)		p.P260L(1)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(4)|ovary(1)|skin(2)	15						ACTCACCTGCCATTTCCAAAA	0.398																																						uc003omx.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(757-759)CCA>CTA		hypothetical protein LOC221477							111.0	105.0	107.0					6																	36884283		2203	4300	6503	SO:0001583	missense	221477					integral to membrane		g.chr6:36884283C>T	AK058086	CCDS4827.1, CCDS69100.1, CCDS75444.1	6p21.31	2013-03-14			ENSG00000198663	ENSG00000198663			21114	protein-coding gene	gene with protein product	"""bombesin receptor activated protein"""					21857995, 23460338	Standard	NM_152734		Approved	FLJ25357, BRAP	uc003omw.3	Q6UWU4	OTTHUMG00000014613	ENST00000480824.2:c.758C>T	6.37:g.36884283C>T	ENSP00000475947:p.Pro253Leu					C6orf89_uc003omv.2_Missense_Mutation_p.P147L|C6orf89_uc003omw.2_Missense_Mutation_p.P260L|C6orf89_uc011dtr.1_Missense_Mutation_p.P147L|C6orf89_uc003omy.2_Missense_Mutation_p.P87L	p.P253L	NM_152734	NP_689947	Q6UWU4	CF089_HUMAN			7	1042	+			253					B4DTT1|F4NAR0|F4NAR1|Q6ZMG5|Q7Z356|Q8IZ35	Missense_Mutation	SNP	ENST00000480824.2	37	c.758C>T		.	.	.	.	.	.	.	.	.	.	C	15.61	2.885125	0.51908	.	.	ENSG00000198663	ENST00000359359;ENST00000510325;ENST00000355190;ENST00000373685	.	.	.	6.17	5.3	0.74995	.	0.185363	0.47455	D	0.000222	T	0.39384	0.1076	L	0.50333	1.59	0.52099	D	0.999947	B;B	0.27351	0.176;0.176	B;B	0.21917	0.037;0.037	T	0.36383	-0.9750	9	0.30078	T	0.28	0.0186	12.9709	0.58511	0.1616:0.8384:0.0:0.0	.	253;260	Q6UWU4;Q6UWU4-2	CF089_HUMAN;.	L	147;147;260;253	.	ENSP00000347322:P260L	P	+	2	0	C6orf89	36992261	0.995000	0.38212	0.940000	0.37924	0.973000	0.67179	2.140000	0.42159	1.606000	0.50161	-0.182000	0.12963	CCA		PASS	0.398	C6orf89-004	KNOWN	alternative_5_UTR|basic	protein_coding	protein_coding	OTTHUMT00000040387.2	NM_152734		108	57	108	57	---	---	---	---
USP49	25862	broad.mit.edu	37	6	41774093	41774093	+	Missense_Mutation	SNP	C	C	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr6:41774093C>A	ENST00000394253.3	-	3	958	c.629G>T	c.(628-630)cGg>cTg	p.R210L	USP49_ENST00000297229.2_Missense_Mutation_p.R210L|USP49_ENST00000373010.1_Missense_Mutation_p.R210L|USP49_ENST00000373009.3_Missense_Mutation_p.R210L|USP49_ENST00000373006.1_Missense_Mutation_p.R210L			Q70CQ1	UBP49_HUMAN	ubiquitin specific peptidase 49	210					histone H2B conserved C-terminal lysine deubiquitination (GO:0035616)|mRNA splicing, via spliceosome (GO:0000398)|protein deubiquitination (GO:0016579)|ubiquitin-dependent protein catabolic process (GO:0006511)	nucleus (GO:0005634)	cysteine-type endopeptidase activity (GO:0004197)|histone binding (GO:0042393)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)	p.R210L(1)		breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(7)|ovary(3)|prostate(2)|skin(2)	23	Ovarian(28;0.0919)|Colorectal(47;0.121)		STAD - Stomach adenocarcinoma(11;0.000204)|Epithelial(12;0.000309)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			CAGGAGCAGCCGTGCACTCTT	0.751																																						uc003ori.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.(628-630)CGG>CTG		ubiquitin thioesterase 49							5.0	6.0	5.0					6																	41774093		1745	3630	5375	SO:0001583	missense	25862				ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity|zinc ion binding	g.chr6:41774093C>A	AJ586139	CCDS4861.1, CCDS69111.1	6p12.1	2008-02-05	2005-08-08		ENSG00000164663	ENSG00000164663		"""Ubiquitin-specific peptidases"""	20078	protein-coding gene	gene with protein product			"""ubiquitin specific protease 49"""			14715245	Standard	NM_018561		Approved	MGC20741	uc003ori.3	Q70CQ1	OTTHUMG00000014688	ENST00000394253.3:c.629G>T	6.37:g.41774093C>A	ENSP00000377797:p.Arg210Leu						p.R210L	NM_018561	NP_061031	Q70CQ1	UBP49_HUMAN	STAD - Stomach adenocarcinoma(11;0.000204)|Epithelial(12;0.000309)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)		4	851	-	Ovarian(28;0.0919)|Colorectal(47;0.121)		210					Q5T3D9|Q5T3E0|Q96CK4	Missense_Mutation	SNP	ENST00000394253.3	37	c.629G>T		.	.	.	.	.	.	.	.	.	.	C	16.45	3.126742	0.56721	.	.	ENSG00000164663	ENST00000394253;ENST00000373010;ENST00000373009;ENST00000373006;ENST00000297229	T;T;T;T;T	0.08193	3.61;3.12;3.61;3.38;3.38	3.95	3.95	0.45737	.	0.056068	0.64402	D	0.000002	T	0.18923	0.0454	M	0.66297	2.02	0.58432	D	0.999998	D	0.89917	1.0	D	0.97110	1.0	T	0.01692	-1.1294	10	0.72032	D	0.01	-15.4147	15.7928	0.78380	0.0:1.0:0.0:0.0	.	210	Q70CQ1-2	.	L	210	ENSP00000377797:R210L;ENSP00000362101:R210L;ENSP00000362100:R210L;ENSP00000362097:R210L;ENSP00000297229:R210L	ENSP00000297229:R210L	R	-	2	0	USP49	41882071	1.000000	0.71417	0.996000	0.52242	0.026000	0.11368	6.880000	0.75578	2.024000	0.59613	0.655000	0.94253	CGG		PASS	0.751	USP49-007	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000316513.3	NM_018561		6	3	6	3	---	---	---	---
CRISP1	167	broad.mit.edu	37	6	49814308	49814308	+	Nonsense_Mutation	SNP	G	G	C			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr6:49814308G>C	ENST00000335847.4	-	5	461	c.360C>G	c.(358-360)taC>taG	p.Y120*	CRISP1_ENST00000505118.1_Nonsense_Mutation_p.Y120*|CRISP1_ENST00000329411.5_Nonsense_Mutation_p.Y120*|CRISP1_ENST00000507853.1_Nonsense_Mutation_p.Y120*|CRISP1_ENST00000355791.2_Nonsense_Mutation_p.Y120*|CRISP1_ENST00000536021.1_Nonsense_Mutation_p.Y120*	NM_001131.2	NP_001122.2	P54107	CRIS1_HUMAN	cysteine-rich secretory protein 1	120	SCP.				binding of sperm to zona pellucida (GO:0007339)|fusion of sperm to egg plasma membrane (GO:0007342)|regulation of acrosome reaction (GO:0060046)	extracellular space (GO:0005615)|nucleus (GO:0005634)	calcium channel regulator activity (GO:0005246)	p.Y120*(1)		endometrium(1)|kidney(2)|large_intestine(6)|lung(15)|skin(2)|upper_aerodigestive_tract(1)	27	Lung NSC(77;0.0358)					TAGACTCACTGTACCAGACTC	0.418																																						uc003ozw.2																			1	Substitution - Nonsense(1)		lung(1)		0						c.(358-360)TAC>TAG		acidic epididymal glycoprotein-like 1 isoform 1							342.0	274.0	297.0					6																	49814308		2203	4300	6503	SO:0001587	stop_gained	167				fusion of sperm to egg plasma membrane	extracellular space		g.chr6:49814308G>C	D38451	CCDS4931.1, CCDS4932.1	6p21.2-p21.1	2008-02-05	2003-09-03	2003-09-05	ENSG00000124812	ENSG00000124812			304	protein-coding gene	gene with protein product		601193	"""acidic epididymal glycoprotein-like 1"""	AEGL1		8838800	Standard	NM_001131		Approved	CRISP-1, ARP, HUMARP, HSCRISP1D, HSCRISP1G	uc003ozw.2	P54107	OTTHUMG00000014827	ENST00000335847.4:c.360C>G	6.37:g.49814308G>C	ENSP00000338276:p.Tyr120*					CRISP1_uc003ozx.2_Nonsense_Mutation_p.Y120*	p.Y120*	NM_001131	NP_001122	P54107	CRIS1_HUMAN			5	439	-	Lung NSC(77;0.0358)		120					B5BU98|O00698|Q13248|Q14082|Q96SF6	Nonsense_Mutation	SNP	ENST00000335847.4	37	c.360C>G	CCDS4931.1	.	.	.	.	.	.	.	.	.	.	G	14.86	2.660090	0.47572	.	.	ENSG00000124812	ENST00000507853;ENST00000335847;ENST00000355791;ENST00000329411;ENST00000505118;ENST00000536021	.	.	.	5.35	2.07	0.26955	.	0.518404	0.21088	N	0.080376	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.7786	0.05354	0.2617:0.0:0.5188:0.2194	.	.	.	.	X	120	.	.	Y	-	3	2	CRISP1	49922267	0.760000	0.28428	0.596000	0.28811	0.136000	0.21042	0.090000	0.15025	0.598000	0.29829	0.655000	0.94253	TAC		PASS	0.418	CRISP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040875.2	NM_001131		72	69	72	69	---	---	---	---
PKHD1	5314	broad.mit.edu	37	6	51771113	51771113	+	Silent	SNP	C	C	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr6:51771113C>A	ENST00000371117.3	-	41	6983	c.6708G>T	c.(6706-6708)gtG>gtT	p.V2236V	PKHD1_ENST00000340994.4_Silent_p.V2236V	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	2236					cellular calcium ion homeostasis (GO:0006874)|cilium assembly (GO:0042384)|homeostatic process (GO:0042592)|kidney development (GO:0001822)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cellular component movement (GO:0051271)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of protein kinase B signaling (GO:0051898)|positive regulation of cell proliferation (GO:0008284)|regulation of centrosome duplication (GO:0010824)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of TOR signaling (GO:0032006)|single organismal cell-cell adhesion (GO:0016337)	anchored component of external side of plasma membrane (GO:0031362)|apical plasma membrane (GO:0016324)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|mitotic spindle (GO:0072686)|perinuclear region of cytoplasm (GO:0048471)|primary cilium (GO:0072372)	receptor activity (GO:0004872)	p.V2236V(2)		NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					AGGAGTTCCTCACTGTGCAGC	0.438																																						uc003pah.1																			2	Substitution - coding silent(2)		lung(2)	lung(15)|ovary(15)|large_intestine(5)|central_nervous_system(3)|skin(3)|breast(2)|upper_aerodigestive_tract(1)	44						c.(6706-6708)GTG>GTT		fibrocystin isoform 1							71.0	70.0	70.0					6																	51771113		2203	4300	6503	SO:0001819	synonymous_variant	5314				cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity	g.chr6:51771113C>A	AF480064	CCDS4935.1, CCDS4936.1	6p21.2-p12	2012-11-26	2003-04-16		ENSG00000170927	ENSG00000170927			9016	protein-coding gene	gene with protein product	"""tigmin"", ""polyductin"", ""fibrocystin"""	606702	"""TIG multiple domains 1"""	TIGM1		9503014	Standard	NM_138694		Approved	ARPKD, FCYT	uc003pah.1	P08F94	OTTHUMG00000014841	ENST00000371117.3:c.6708G>T	6.37:g.51771113C>A						PKHD1_uc010jzn.1_Intron|PKHD1_uc003pai.2_Silent_p.V2236V	p.V2236V	NM_138694	NP_619639	P08F94	PKHD1_HUMAN			41	6984	-	Lung NSC(77;0.0605)		2236			Extracellular (Potential).|PbH1 1.		Q5VUA2|Q5VUA3|Q5VWV1|Q86Z26|Q8TCZ9	Silent	SNP	ENST00000371117.3	37	c.6708G>T	CCDS4935.1																																																																																				PASS	0.438	PKHD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040893.1	NM_138694		48	49	48	49	---	---	---	---
FAM83B	222584	broad.mit.edu	37	6	54806171	54806171	+	Missense_Mutation	SNP	G	G	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr6:54806171G>T	ENST00000306858.7	+	5	2518	c.2402G>T	c.(2401-2403)tGt>tTt	p.C801F	RP3-523K23.2_ENST00000562834.1_RNA	NM_001010872.1	NP_001010872.1	Q5T0W9	FA83B_HUMAN	family with sequence similarity 83, member B	801								p.C801F(1)		autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(28)|ovary(6)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	71	Lung NSC(77;0.0178)|Renal(3;0.122)					TATAGATTGTGTAGTAGCTCT	0.358																																						uc003pck.2																			1	Substitution - Missense(1)		lung(1)	ovary(6)	6						c.(2401-2403)TGT>TTT		hypothetical protein LOC222584							41.0	44.0	43.0					6																	54806171		2203	4300	6503	SO:0001583	missense	222584							g.chr6:54806171G>T	AK055204	CCDS34479.1	6p12.1	2014-03-13	2006-03-23	2006-03-23	ENSG00000168143	ENSG00000168143			21357	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 143"""	C6orf143		22886302	Standard	NM_001010872		Approved	FLJ30642	uc003pck.4	Q5T0W9	OTTHUMG00000014899	ENST00000306858.7:c.2402G>T	6.37:g.54806171G>T	ENSP00000304078:p.Cys801Phe						p.C801F	NM_001010872	NP_001010872	Q5T0W9	FA83B_HUMAN			5	2518	+	Lung NSC(77;0.0178)|Renal(3;0.122)		801					Q2M1P3|Q96DQ2	Missense_Mutation	SNP	ENST00000306858.7	37	c.2402G>T	CCDS34479.1	.	.	.	.	.	.	.	.	.	.	G	15.41	2.826146	0.50739	.	.	ENSG00000168143	ENST00000306858	T	0.10573	2.86	5.41	5.41	0.78517	.	0.066933	0.64402	D	0.000006	T	0.23806	0.0576	M	0.69823	2.125	0.58432	D	0.999994	D	0.71674	0.998	P	0.61940	0.896	T	0.00942	-1.1506	10	0.59425	D	0.04	-18.3628	19.1933	0.93675	0.0:0.0:1.0:0.0	.	801	Q5T0W9	FA83B_HUMAN	F	801	ENSP00000304078:C801F	ENSP00000304078:C801F	C	+	2	0	FAM83B	54914130	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.447000	0.73465	2.544000	0.85801	0.655000	0.94253	TGT		PASS	0.358	FAM83B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040994.1	XM_294139		29	38	29	38	---	---	---	---
BAI3	577	broad.mit.edu	37	6	70071070	70071070	+	Missense_Mutation	SNP	G	G	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr6:70071070G>T	ENST00000370598.1	+	29	4726	c.3905G>T	c.(3904-3906)aGa>aTa	p.R1302I	BAI3_ENST00000238918.8_Missense_Mutation_p.R508I|BAI3_ENST00000546190.1_Missense_Mutation_p.R266I	NM_001704.2	NP_001695	O60242	BAI3_HUMAN	brain-specific angiogenesis inhibitor 3	1302					G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of angiogenesis (GO:0016525)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.R1302I(1)		NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	210		all_lung(197;0.212)				CCTCAAGAAAGAATGATGGAA	0.373																																						uc003pev.3																			1	Substitution - Missense(1)		lung(1)	lung(27)|ovary(8)|skin(6)|pancreas(4)|central_nervous_system(3)|urinary_tract(1)|breast(1)	50						c.(3904-3906)AGA>ATA		brain-specific angiogenesis inhibitor 3							66.0	64.0	65.0					6																	70071070		2203	4299	6502	SO:0001583	missense	577				negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr6:70071070G>T	AB005299	CCDS4968.1	6q12	2014-08-08			ENSG00000135298	ENSG00000135298		"""-"", ""GPCR / Class B : Orphans"""	945	protein-coding gene	gene with protein product		602684				9533023	Standard	NM_001704		Approved	KIAA0550	uc003pev.4	O60242	OTTHUMG00000014982	ENST00000370598.1:c.3905G>T	6.37:g.70071070G>T	ENSP00000359630:p.Arg1302Ile					BAI3_uc010kak.2_Missense_Mutation_p.R1302I|BAI3_uc011dxx.1_Missense_Mutation_p.R508I	p.R1302I	NM_001704	NP_001695	O60242	BAI3_HUMAN			29	4353	+		all_lung(197;0.212)	1302			Cytoplasmic (Potential).		B7Z1K0|O60297|Q2NKN6|Q5VY37|Q9BX54	Missense_Mutation	SNP	ENST00000370598.1	37	c.3905G>T	CCDS4968.1	.	.	.	.	.	.	.	.	.	.	G	16.36	3.100089	0.56183	.	.	ENSG00000135298	ENST00000370598;ENST00000238918;ENST00000546190	T;T;T	0.06294	3.32;3.32;3.32	5.44	5.44	0.79542	.	0.051154	0.85682	D	0.000000	T	0.04318	0.0119	L	0.29908	0.895	0.52099	D	0.999948	P;P	0.44578	0.838;0.838	B;B	0.41813	0.276;0.367	T	0.43814	-0.9368	10	0.59425	D	0.04	.	19.6299	0.95698	0.0:0.0:1.0:0.0	.	508;1302	B7Z356;O60242	.;BAI3_HUMAN	I	1302;508;266	ENSP00000359630:R1302I;ENSP00000238918:R508I;ENSP00000441821:R266I	ENSP00000238918:R508I	R	+	2	0	BAI3	70127791	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	5.943000	0.70211	2.723000	0.93209	0.591000	0.81541	AGA		PASS	0.373	BAI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041120.1			37	32	37	32	---	---	---	---
BAI3	577	broad.mit.edu	37	6	70082331	70082331	+	Nonsense_Mutation	SNP	G	G	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr6:70082331G>T	ENST00000370598.1	+	30	5094	c.4273G>T	c.(4273-4275)Gag>Tag	p.E1425*	BAI3_ENST00000238918.8_Nonsense_Mutation_p.E631*|BAI3_ENST00000546190.1_Nonsense_Mutation_p.E389*	NM_001704.2	NP_001695	O60242	BAI3_HUMAN	brain-specific angiogenesis inhibitor 3	1425					G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of angiogenesis (GO:0016525)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.E1425*(1)		NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	210		all_lung(197;0.212)				CCTTGACTTTGAGGTAAGTTT	0.249																																						uc003pev.3																			1	Substitution - Nonsense(1)		lung(1)	lung(27)|ovary(8)|skin(6)|pancreas(4)|central_nervous_system(3)|urinary_tract(1)|breast(1)	50						c.(4273-4275)GAG>TAG		brain-specific angiogenesis inhibitor 3							19.0	21.0	20.0					6																	70082331		2105	4153	6258	SO:0001587	stop_gained	577				negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr6:70082331G>T	AB005299	CCDS4968.1	6q12	2014-08-08			ENSG00000135298	ENSG00000135298		"""-"", ""GPCR / Class B : Orphans"""	945	protein-coding gene	gene with protein product		602684				9533023	Standard	NM_001704		Approved	KIAA0550	uc003pev.4	O60242	OTTHUMG00000014982	ENST00000370598.1:c.4273G>T	6.37:g.70082331G>T	ENSP00000359630:p.Glu1425*					BAI3_uc010kak.2_Nonsense_Mutation_p.E1425*|BAI3_uc011dxx.1_Nonsense_Mutation_p.E631*	p.E1425*	NM_001704	NP_001695	O60242	BAI3_HUMAN			30	4721	+		all_lung(197;0.212)	1425			Cytoplasmic (Potential).		B7Z1K0|O60297|Q2NKN6|Q5VY37|Q9BX54	Nonsense_Mutation	SNP	ENST00000370598.1	37	c.4273G>T	CCDS4968.1	.	.	.	.	.	.	.	.	.	.	G	37	6.625654	0.97714	.	.	ENSG00000135298	ENST00000370598;ENST00000238918;ENST00000546190	.	.	.	5.97	5.97	0.96955	.	0.049691	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	17.3555	0.87334	0.0:0.0:1.0:0.0	.	.	.	.	X	1425;631;389	.	ENSP00000238918:E631X	E	+	1	0	BAI3	70139052	1.000000	0.71417	1.000000	0.80357	0.956000	0.61745	6.873000	0.75541	2.836000	0.97738	0.655000	0.94253	GAG		PASS	0.249	BAI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041120.1			14	18	14	18	---	---	---	---
IMPG1	3617	broad.mit.edu	37	6	76712652	76712652	+	Missense_Mutation	SNP	G	G	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr6:76712652G>T	ENST00000369950.3	-	12	1463	c.1274C>A	c.(1273-1275)gCa>gAa	p.A425E	IMPG1_ENST00000369963.3_3'UTR	NM_001282368.1|NM_001563.2	NP_001269297.1|NP_001554.2			interphotoreceptor matrix proteoglycan 1									p.A425E(1)		breast(5)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(8)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	63		Acute lymphoblastic leukemia(125;0.0418)|all_hematologic(105;0.222)				ACCATGCTCTGCTCCGTCCAC	0.443																																					Pancreas(37;839 1141 2599 26037)	uc003pik.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(1)	3						c.(1273-1275)GCA>GAA		interphotoreceptor matrix proteoglycan 1							129.0	112.0	118.0					6																	76712652		2203	4300	6503	SO:0001583	missense	3617				visual perception	proteinaceous extracellular matrix	extracellular matrix structural constituent|receptor activity	g.chr6:76712652G>T	AF017776	CCDS4985.1, CCDS75483.1	6q14.2-q15	2008-02-05	2004-05-25		ENSG00000112706	ENSG00000112706			6055	protein-coding gene	gene with protein product		602870	"""sialoprotein associated with cones and rods"""	SPACR			Standard	NM_001282368		Approved	IPM150, GP147	uc003pik.1	Q17R60	OTTHUMG00000015063	ENST00000369950.3:c.1274C>A	6.37:g.76712652G>T	ENSP00000358966:p.Ala425Glu						p.A425E	NM_001563	NP_001554	Q17R60	IMPG1_HUMAN			12	1404	-		Acute lymphoblastic leukemia(125;0.0418)|all_hematologic(105;0.222)	425						Missense_Mutation	SNP	ENST00000369950.3	37	c.1274C>A	CCDS4985.1	.	.	.	.	.	.	.	.	.	.	G	0.071	-1.202797	0.01581	.	.	ENSG00000112706	ENST00000369950	T	0.18810	2.19	5.14	1.93	0.25924	.	1.095570	0.06925	N	0.810020	T	0.02848	0.0085	N	0.19112	0.55	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.38090	-0.9677	10	0.02654	T	1	.	6.7677	0.23576	0.0:0.1447:0.4169:0.4384	.	425	Q17R60	IMPG1_HUMAN	E	425	ENSP00000358966:A425E	ENSP00000358966:A425E	A	-	2	0	IMPG1	76769372	0.013000	0.17824	0.001000	0.08648	0.009000	0.06853	0.998000	0.29744	0.546000	0.28920	0.563000	0.77884	GCA		PASS	0.443	IMPG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041288.1	NM_001563		21	20	21	20	---	---	---	---
BCKDHB	594	broad.mit.edu	37	6	80881107	80881107	+	Splice_Site	SNP	G	G	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr6:80881107G>T	ENST00000320393.6	+	6	789	c.742G>T	c.(742-744)Gcg>Tcg	p.A248S	BCKDHB_ENST00000545529.1_3'UTR|BCKDHB_ENST00000356489.5_Splice_Site_p.A248S	NM_183050.2	NP_898871.1	P21953	ODBB_HUMAN	branched chain keto acid dehydrogenase E1, beta polypeptide	248					branched-chain amino acid catabolic process (GO:0009083)|cellular nitrogen compound metabolic process (GO:0034641)|response to cAMP (GO:0051591)|response to glucocorticoid (GO:0051384)|response to nutrient (GO:0007584)|small molecule metabolic process (GO:0044281)	mitochondrial alpha-ketoglutarate dehydrogenase complex (GO:0005947)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	3-methyl-2-oxobutanoate dehydrogenase (2-methylpropanoyl-transferring) activity (GO:0003863)|alpha-ketoacid dehydrogenase activity (GO:0003826)|carboxy-lyase activity (GO:0016831)	p.A248S(1)		central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(10)|upper_aerodigestive_tract(1)	15		all_cancers(76;1.38e-05)|Acute lymphoblastic leukemia(125;1.15e-05)|all_hematologic(105;0.00118)|all_epithelial(107;0.0149)		BRCA - Breast invasive adenocarcinoma(397;0.0291)		CAGGGCAGCAGGTAAAGATTT	0.284																																						uc003pjd.2																			1	Substitution - Missense(1)		lung(1)		0						c.(742-744)GCG>TCG		branched chain keto acid dehydrogenase E1 beta							19.0	23.0	22.0					6																	80881107		2191	4291	6482	SO:0001630	splice_region_variant	594				branched chain family amino acid catabolic process	mitochondrial alpha-ketoglutarate dehydrogenase complex	3-methyl-2-oxobutanoate dehydrogenase (2-methylpropanoyl-transferring) activity|carboxy-lyase activity|protein binding	g.chr6:80881107G>T	M55575	CCDS4994.1	6q14.1	2008-07-31	2008-07-31		ENSG00000083123	ENSG00000083123			987	protein-coding gene	gene with protein product	"""maple syrup urine disease"""	248611					Standard	NM_183050		Approved		uc003pje.2	P21953	OTTHUMG00000016430	ENST00000320393.6:c.742+1G>T	6.37:g.80881107G>T						BCKDHB_uc003pje.2_Missense_Mutation_p.A248S	p.A248S	NM_000056	NP_000047	P21953	ODBB_HUMAN		BRCA - Breast invasive adenocarcinoma(397;0.0291)	6	809	+		all_cancers(76;1.38e-05)|Acute lymphoblastic leukemia(125;1.15e-05)|all_hematologic(105;0.00118)|all_epithelial(107;0.0149)	248					Q5T2J3|Q9BQL0	Missense_Mutation	SNP	ENST00000320393.6	37	c.742G>T	CCDS4994.1	.	.	.	.	.	.	.	.	.	.	G	17.27	3.348024	0.61183	.	.	ENSG00000083123	ENST00000320393;ENST00000356489;ENST00000541767	D;D	0.91464	-2.85;-2.85	5.48	5.48	0.80851	.	0.053790	0.85682	D	0.000000	T	0.70928	0.3280	N	0.01751	-0.74	0.80722	D	1	B	0.02656	0.0	B	0.04013	0.001	T	0.68876	-0.5293	10	0.54805	T	0.06	-11.2073	18.3403	0.90303	0.0:0.0:1.0:0.0	.	248	P21953	ODBB_HUMAN	S	248;248;178	ENSP00000318351:A248S;ENSP00000348880:A248S	ENSP00000318351:A248S	A	+	1	0	BCKDHB	80937826	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	8.938000	0.92943	2.588000	0.87417	0.655000	0.94253	GCG		PASS	0.284	BCKDHB-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043911.2	NM_000056	Missense_Mutation	13	18	13	18	---	---	---	---
SNAP91	9892	broad.mit.edu	37	6	84290221	84290221	+	Silent	SNP	G	G	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr6:84290221G>T	ENST00000439399.2	-	24	2563	c.2247C>A	c.(2245-2247)gcC>gcA	p.A749A	SNAP91_ENST00000520213.1_Silent_p.A442A|SNAP91_ENST00000428679.2_Silent_p.A749A|SNAP91_ENST00000437520.1_Silent_p.A442A|SNAP91_ENST00000521743.1_Silent_p.A749A|SNAP91_ENST00000195649.6_Silent_p.A744A|SNAP91_ENST00000369694.2_Silent_p.A749A|SNAP91_ENST00000520302.1_Silent_p.A719A|SNAP91_ENST00000521485.1_Silent_p.A744A|SNAP91_ENST00000519133.1_5'UTR	NM_014841.2	NP_055656.1	O60641	AP180_HUMAN	synaptosomal-associated protein, 91kDa	749					clathrin coat assembly (GO:0048268)|protein transport (GO:0015031)	clathrin coat (GO:0030118)|coated pit (GO:0005905)|plasma membrane (GO:0005886)	1-phosphatidylinositol binding (GO:0005545)|protein kinase binding (GO:0019901)	p.A749A(2)		breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(22)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	37		all_cancers(76;0.000243)|Acute lymphoblastic leukemia(125;2.91e-07)|all_hematologic(105;0.000337)|all_epithelial(107;0.0575)		BRCA - Breast invasive adenocarcinoma(397;0.0967)		GGGCTTTGCTGGCTGCCATTG	0.458																																						uc011dze.1																			2	Substitution - coding silent(2)		lung(2)	ovary(1)	1						c.(2245-2247)GCC>GCA		synaptosomal-associated protein, 91kDa homolog							106.0	112.0	110.0					6																	84290221		1973	4149	6122	SO:0001819	synonymous_variant	9892				clathrin coat assembly	clathrin coat|coated pit|plasma membrane	1-phosphatidylinositol binding|clathrin binding	g.chr6:84290221G>T	AB014556	CCDS47455.1, CCDS56437.1, CCDS56438.1	6q15	2012-12-07	2012-12-07		ENSG00000065609	ENSG00000065609			14986	protein-coding gene	gene with protein product		607923	"""synaptosomal-associated protein, 91 kDa (mouse) homolog"", ""synaptosomal-associated protein, 91kDa homolog (mouse)"""			9734811, 12493563, 10436022	Standard	NM_014841		Approved	KIAA0656, AP180, CALM	uc003pka.3	O60641	OTTHUMG00000015114	ENST00000439399.2:c.2247C>A	6.37:g.84290221G>T						SNAP91_uc011dzd.1_Silent_p.A247A|SNAP91_uc003pkb.2_Silent_p.A658A|SNAP91_uc003pkc.2_Silent_p.A719A|SNAP91_uc003pkd.2_Silent_p.A442A|SNAP91_uc003pka.2_Silent_p.A747A	p.A749A	NM_014841	NP_055656	O60641	AP180_HUMAN		BRCA - Breast invasive adenocarcinoma(397;0.0967)	23	2564	-		all_cancers(76;0.000243)|Acute lymphoblastic leukemia(125;2.91e-07)|all_hematologic(105;0.000337)|all_epithelial(107;0.0575)	749					A8K0L7|E5RI02|Q5JX13|Q68DL9|Q6P9D3|Q9NTY7	Silent	SNP	ENST00000439399.2	37	c.2247C>A	CCDS47455.1																																																																																				PASS	0.458	SNAP91-007	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000375296.1			56	53	56	53	---	---	---	---
PRDM1	639	broad.mit.edu	37	6	106553194	106553194	+	Missense_Mutation	SNP	G	G	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr6:106553194G>T	ENST00000369096.4	+	5	1393	c.1159G>T	c.(1159-1161)Ggc>Tgc	p.G387C	PRDM1_ENST00000369089.3_Missense_Mutation_p.G253C|PRDM1_ENST00000369091.2_Missense_Mutation_p.G351C	NM_001198.3	NP_001189.2	O75626	PRDM1_HUMAN	PR domain containing 1, with ZNF domain	387					cell fate commitment (GO:0045165)|eye photoreceptor cell development (GO:0042462)|germ cell development (GO:0007281)|intestinal epithelial cell development (GO:0060576)|maternal placenta development (GO:0001893)|negative regulation of B cell proliferation (GO:0030889)|negative regulation of lipopolysaccharide-mediated signaling pathway (GO:0031665)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of B cell differentiation (GO:0045579)|positive regulation of gene expression (GO:0010628)|post-embryonic development (GO:0009791)|transcription, DNA-templated (GO:0006351)|trophoblast giant cell differentiation (GO:0060707)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|methyltransferase activity (GO:0008168)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.G351C(1)		NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(59)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(5)|urinary_tract(2)	94	Breast(9;0.022)	all_cancers(87;2.2e-31)|all_epithelial(87;2.03e-21)|Acute lymphoblastic leukemia(125;4.99e-11)|all_lung(197;7.55e-09)|all_hematologic(75;5.82e-08)|Lung NSC(302;1.28e-06)|Colorectal(196;0.0112)|Ovarian(999;0.0365)		all cancers(137;1.83e-46)|Epithelial(106;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(136;1.99e-20)|GBM - Glioblastoma multiforme(226;3.72e-11)|BRCA - Breast invasive adenocarcinoma(108;1.38e-05)		GGAAGGTTTGGGCTCCTACCC	0.637			"""D, N, Mis, F, S"""		DLBCL																																	uc003prd.2				Rec	yes		6	6q21	639	D|N|Mis|F|S	"""PR domain containing 1, with ZNF domain"""			L			DLBCL		1	Substitution - Missense(1)		lung(1)	haematopoietic_and_lymphoid_tissue(54)|ovary(1)|skin(1)	56						c.(1159-1161)GGC>TGC		PR domain containing 1, with ZNF domain isoform							87.0	71.0	76.0					6																	106553194		2203	4300	6503	SO:0001583	missense	639				negative regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr6:106553194G>T		CCDS5054.2, CCDS34505.1	6q21	2013-01-08			ENSG00000057657	ENSG00000057657		"""Zinc fingers, C2H2-type"""	9346	protein-coding gene	gene with protein product		603423		BLIMP1		1851123	Standard	NM_001198		Approved	PRDI-BF1	uc003prd.2	O75626	OTTHUMG00000015299	ENST00000369096.4:c.1159G>T	6.37:g.106553194G>T	ENSP00000358092:p.Gly387Cys					PRDM1_uc003pre.2_Missense_Mutation_p.G253C	p.G387C	NM_001198	NP_001189	O75626	PRDM1_HUMAN		all cancers(137;1.83e-46)|Epithelial(106;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(136;1.99e-20)|GBM - Glioblastoma multiforme(226;3.72e-11)|BRCA - Breast invasive adenocarcinoma(108;1.38e-05)	5	1393	+	Breast(9;0.022)	all_cancers(87;2.2e-31)|all_epithelial(87;2.03e-21)|Acute lymphoblastic leukemia(125;4.99e-11)|all_lung(197;7.55e-09)|all_hematologic(75;5.82e-08)|Lung NSC(302;1.28e-06)|Colorectal(196;0.0112)|Ovarian(999;0.0365)	387					B2REA6|E1P5E0|Q86WM7	Missense_Mutation	SNP	ENST00000369096.4	37	c.1159G>T	CCDS5054.2	.	.	.	.	.	.	.	.	.	.	G	16.29	3.082029	0.55861	.	.	ENSG00000057657	ENST00000369091;ENST00000369096;ENST00000456278;ENST00000369089	T;T;T	0.07688	3.19;3.17;3.18	5.08	4.21	0.49690	.	0.264407	0.42821	D	0.000658	T	0.16385	0.0394	M	0.68317	2.08	0.46458	D	0.999055	D;D	0.89917	1.0;1.0	D;D	0.76071	0.979;0.987	T	0.00770	-1.1573	10	0.66056	D	0.02	-22.0026	13.0489	0.58944	0.0774:0.0:0.9226:0.0	.	253;387	Q86WM7;O75626	.;PRDM1_HUMAN	C	351;387;351;253	ENSP00000358087:G351C;ENSP00000358092:G387C;ENSP00000358085:G253C	ENSP00000358085:G253C	G	+	1	0	PRDM1	106659887	1.000000	0.71417	0.996000	0.52242	0.608000	0.37181	4.965000	0.63708	1.147000	0.42369	0.655000	0.94253	GGC		PASS	0.637	PRDM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041661.3			43	42	43	42	---	---	---	---
AIM1	202	broad.mit.edu	37	6	106960405	106960405	+	Silent	SNP	G	G	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr6:106960405G>T	ENST00000369066.3	+	1	676	c.189G>T	c.(187-189)cgG>cgT	p.R63R		NM_001624.2	NP_001615	Q9UMX9	S45A2_HUMAN	absent in melanoma 1	0					developmental pigmentation (GO:0048066)|melanin biosynthetic process (GO:0042438)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)		p.R63R(1)		breast(8)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(7)|large_intestine(13)|lung(20)|ovary(5)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	69	Breast(9;0.0138)|all_epithelial(6;0.169)	all_cancers(87;4.67e-25)|all_epithelial(87;5.46e-21)|Acute lymphoblastic leukemia(125;2.15e-07)|all_hematologic(75;5.28e-06)|Colorectal(196;3.46e-05)|all_lung(197;5.94e-05)|Lung NSC(302;7.26e-05)|Ovarian(999;0.00473)	Epithelial(6;0.00114)|all cancers(7;0.00726)|BRCA - Breast invasive adenocarcinoma(8;0.0114)|OV - Ovarian serous cystadenocarcinoma(5;0.0305)	all cancers(137;1.73e-50)|Epithelial(106;2.42e-48)|OV - Ovarian serous cystadenocarcinoma(136;1.51e-27)|BRCA - Breast invasive adenocarcinoma(108;0.00104)|GBM - Glioblastoma multiforme(226;0.00858)		AATCTCCGCGGGCAGCCCTCG	0.677																																						uc003prh.2																			1	Substitution - coding silent(1)		lung(1)	breast(4)|ovary(2)|upper_aerodigestive_tract(1)|large_intestine(1)|skin(1)	9						c.(187-189)CGG>CGT		absent in melanoma 1							12.0	12.0	12.0					6																	106960405		2167	4248	6415	SO:0001819	synonymous_variant	202						sugar binding	g.chr6:106960405G>T	U83115	CCDS34506.1	6q21	2014-01-29			ENSG00000112297	ENSG00000112297			356	protein-coding gene	gene with protein product	"""suppression of tumorigenicity 4"", ""beta-gamma crystallin domain containing 1"""	601797	"""suppression of tumorigenicity 4 (malignant melanoma)"""	ST4		1680551, 12693952	Standard	NM_001624		Approved	CRYBG1	uc003prh.3	Q9Y4K1	OTTHUMG00000015302	ENST00000369066.3:c.189G>T	6.37:g.106960405G>T							p.R63R	NM_001624	NP_001615	Q9Y4K1	AIM1_HUMAN	Epithelial(6;0.00114)|all cancers(7;0.00726)|BRCA - Breast invasive adenocarcinoma(8;0.0114)|OV - Ovarian serous cystadenocarcinoma(5;0.0305)	all cancers(137;1.73e-50)|Epithelial(106;2.42e-48)|OV - Ovarian serous cystadenocarcinoma(136;1.51e-27)|BRCA - Breast invasive adenocarcinoma(108;0.00104)|GBM - Glioblastoma multiforme(226;0.00858)	1	676	+	Breast(9;0.0138)|all_epithelial(6;0.169)	all_cancers(87;4.67e-25)|all_epithelial(87;5.46e-21)|Acute lymphoblastic leukemia(125;2.15e-07)|all_hematologic(75;5.28e-06)|Colorectal(196;3.46e-05)|all_lung(197;5.94e-05)|Lung NSC(302;7.26e-05)|Ovarian(999;0.00473)	63					Q6P2P0|Q9BTM3	Silent	SNP	ENST00000369066.3	37	c.189G>T	CCDS34506.1																																																																																				PASS	0.677	AIM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041669.1			7	9	7	9	---	---	---	---
KIAA1919	91749	broad.mit.edu	37	6	111587213	111587213	+	Missense_Mutation	SNP	G	G	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr6:111587213G>T	ENST00000368847.4	+	4	801	c.448G>T	c.(448-450)Gct>Tct	p.A150S		NM_153369.2	NP_699200.2	Q5TF39	NAGT1_HUMAN	KIAA1919	150					carbohydrate transport (GO:0008643)|sodium ion transport (GO:0006814)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	symporter activity (GO:0015293)	p.A150S(1)		large_intestine(3)|lung(2)|ovary(4)|skin(3)	12		all_cancers(87;2.35e-05)|Acute lymphoblastic leukemia(125;2.13e-07)|all_hematologic(75;5.28e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.0209)		OV - Ovarian serous cystadenocarcinoma(136;0.055)|all cancers(137;0.0871)|Epithelial(106;0.0884)		GACAGCGTCTGCTGAAAACCA	0.478																																						uc003puv.3																			1	Substitution - Missense(1)		lung(1)	ovary(3)	3						c.(448-450)GCT>TCT		sodium-dependent glucose transporter 1							94.0	89.0	91.0					6																	111587213		2203	4300	6503	SO:0001583	missense	91749				carbohydrate transport|sodium ion transport	apical plasma membrane|integral to membrane	symporter activity	g.chr6:111587213G>T	BC036115	CCDS5090.1	6q22	2013-10-02			ENSG00000173214	ENSG00000173214			21053	protein-coding gene	gene with protein product							Standard	NM_153369		Approved	MGC33953, MFSD4B	uc003puv.4	Q5TF39	OTTHUMG00000015372	ENST00000368847.4:c.448G>T	6.37:g.111587213G>T	ENSP00000357840:p.Ala150Ser						p.A150S	NM_153369	NP_699200	Q5TF39	NAGT1_HUMAN		OV - Ovarian serous cystadenocarcinoma(136;0.055)|all cancers(137;0.0871)|Epithelial(106;0.0884)	4	870	+		all_cancers(87;2.35e-05)|Acute lymphoblastic leukemia(125;2.13e-07)|all_hematologic(75;5.28e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.0209)	150			Extracellular (Potential).		A8K9M0|Q8IYB6|Q96PW9|Q9P0D6	Missense_Mutation	SNP	ENST00000368847.4	37	c.448G>T	CCDS5090.1	.	.	.	.	.	.	.	.	.	.	G	1.400	-0.578292	0.03854	.	.	ENSG00000173214	ENST00000368847	T	0.44482	0.92	5.85	3.85	0.44370	Major facilitator superfamily domain, general substrate transporter (1);	0.527264	0.21270	N	0.077333	T	0.11196	0.0273	L	0.38838	1.175	0.09310	N	1	B	0.16166	0.016	B	0.18263	0.021	T	0.23583	-1.0184	10	0.10377	T	0.69	-11.5737	7.4677	0.27330	0.0689:0.2855:0.5358:0.1097	.	150	Q5TF39	NAGT1_HUMAN	S	150	ENSP00000357840:A150S	ENSP00000357840:A150S	A	+	1	0	KIAA1919	111693906	0.340000	0.24792	0.996000	0.52242	0.025000	0.11179	0.386000	0.20702	1.443000	0.47586	0.643000	0.83706	GCT		PASS	0.478	KIAA1919-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041827.1	NM_153369		26	36	26	36	---	---	---	---
FYN	2534	broad.mit.edu	37	6	112041170	112041170	+	Missense_Mutation	SNP	G	G	C	rs113851622	byFrequency	TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr6:112041170G>C	ENST00000354650.3	-	4	691	c.85C>G	c.(85-87)Cgc>Ggc	p.R29G	FYN_ENST00000229471.4_Missense_Mutation_p.R29G|FYN_ENST00000368667.2_Missense_Mutation_p.R29G|FYN_ENST00000356013.2_Missense_Mutation_p.R29G|FYN_ENST00000368678.4_Missense_Mutation_p.R29G|FYN_ENST00000368682.3_Missense_Mutation_p.R29G|FYN_ENST00000229470.5_Missense_Mutation_p.R29G|FYN_ENST00000538466.1_Missense_Mutation_p.R29G	NM_002037.5	NP_002028.1	P06241	FYN_HUMAN	FYN proto-oncogene, Src family tyrosine kinase	29					activated T cell proliferation (GO:0050798)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|calcium ion transport (GO:0006816)|cellular response to peptide hormone stimulus (GO:0071375)|dendrite morphogenesis (GO:0048813)|detection of mechanical stimulus involved in sensory perception of pain (GO:0050966)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|feeding behavior (GO:0007631)|fibroblast growth factor receptor signaling pathway (GO:0008543)|forebrain development (GO:0030900)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|learning (GO:0007612)|leukocyte migration (GO:0050900)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of gene expression (GO:0010629)|negative regulation of protein catabolic process (GO:0042177)|neuron migration (GO:0001764)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet activation (GO:0030168)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of neuron projection development (GO:0010976)|positive regulation of protein localization to nucleus (GO:1900182)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of cell shape (GO:0008360)|regulation of defense response to virus by virus (GO:0050690)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|viral process (GO:0016032)	cytosol (GO:0005829)|endosome (GO:0005768)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	ATP binding (GO:0005524)|ephrin receptor binding (GO:0046875)|glycoprotein binding (GO:0001948)|growth factor receptor binding (GO:0070851)|metal ion binding (GO:0046872)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)	p.R29G(2)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(17)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	30		all_cancers(87;1.37e-05)|Acute lymphoblastic leukemia(125;2.15e-07)|all_hematologic(75;5.28e-06)|all_epithelial(87;0.00125)|Colorectal(196;0.0211)		all cancers(137;0.0451)|OV - Ovarian serous cystadenocarcinoma(136;0.0476)|Epithelial(106;0.102)	Dasatinib(DB01254)	GTGCCATAGCGGTACCCAGAG	0.562																																						uc003pvj.2																			2	Substitution - Missense(2)		lung(2)	lung(5)|central_nervous_system(1)|skin(1)	7						c.(85-87)CGC>GGC		protein-tyrosine kinase fyn isoform a	Dasatinib(DB01254)						145.0	106.0	119.0					6																	112041170		2203	4300	6503	SO:0001583	missense	2534				axon guidance|calcium ion transport|feeding behavior|interspecies interaction between organisms|intracellular protein kinase cascade|learning|leukocyte migration|platelet activation|regulation of defense response to virus by virus|T cell costimulation|T cell receptor signaling pathway|viral reproduction	cytosol|endosome|plasma membrane	ATP binding|glycoprotein binding|identical protein binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity	g.chr6:112041170G>C	AK056699	CCDS5094.1, CCDS5095.1, CCDS5096.1	6q21	2014-06-25	2014-06-25		ENSG00000010810	ENSG00000010810		"""SH2 domain containing"""	4037	protein-coding gene	gene with protein product		137025	"""FYN oncogene related to SRC, FGR, YES"""			3526330	Standard	NM_002037		Approved	SYN, SLK, MGC45350	uc003pvh.3	P06241	OTTHUMG00000016305	ENST00000354650.3:c.85C>G	6.37:g.112041170G>C	ENSP00000346671:p.Arg29Gly					FYN_uc003pvi.2_Missense_Mutation_p.R29G|FYN_uc003pvk.2_Missense_Mutation_p.R29G|FYN_uc003pvh.2_Missense_Mutation_p.R29G	p.R29G	NM_002037	NP_002028	P06241	FYN_HUMAN		all cancers(137;0.0451)|OV - Ovarian serous cystadenocarcinoma(136;0.0476)|Epithelial(106;0.102)	3	425	-		all_cancers(87;1.37e-05)|Acute lymphoblastic leukemia(125;2.15e-07)|all_hematologic(75;5.28e-06)|all_epithelial(87;0.00125)|Colorectal(196;0.0211)	29					B5BU57|E1P557|H0UI48|Q16248|Q5R3A6|Q5R3A7|Q8N5D7	Missense_Mutation	SNP	ENST00000354650.3	37	c.85C>G	CCDS5094.1	.	.	.	.	.	.	.	.	.	.	G	16.03	3.007702	0.54361	.	.	ENSG00000010810	ENST00000368682;ENST00000354650;ENST00000229471;ENST00000368667;ENST00000368678;ENST00000229470;ENST00000356013;ENST00000538466;ENST00000544792;ENST00000462856;ENST00000520518;ENST00000517419;ENST00000518295;ENST00000523238;ENST00000524310;ENST00000523574;ENST00000462598;ENST00000518630;ENST00000523570;ENST00000484067;ENST00000521062;ENST00000487824	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.76060	-0.93;-0.86;-0.98;-0.86;-0.93;-0.99;-0.98;-0.93;-0.51;0.25;0.86;1.24;1.24;1.12;1.18;1.46;0.87;0.87	5.59	4.72	0.59763	.	0.000000	0.85682	D	0.000000	T	0.66790	0.2825	L	0.59436	1.845	0.58432	D	0.999997	B;B;P	0.36392	0.001;0.001;0.551	B;B;B	0.42462	0.004;0.005;0.388	T	0.68496	-0.5393	10	0.38643	T	0.18	.	16.5315	0.84361	0.0:0.1309:0.8691:0.0	.	29;29;29	P06241;P06241-3;E1P556	FYN_HUMAN;.;.	G	29	ENSP00000357671:R29G;ENSP00000346671:R29G;ENSP00000229471:R29G;ENSP00000357656:R29G;ENSP00000357667:R29G;ENSP00000229470:R29G;ENSP00000348295:R29G;ENSP00000440646:R29G;ENSP00000427993:R29G;ENSP00000429294:R29G;ENSP00000429866:R29G;ENSP00000428695:R29G;ENSP00000430364:R29G;ENSP00000428493:R29G;ENSP00000429992:R29G;ENSP00000429590:R29G;ENSP00000429813:R29G;ENSP00000428045:R29G	ENSP00000229470:R29G	R	-	1	0	FYN	112147863	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.635000	0.83286	1.346000	0.45694	0.655000	0.94253	CGC		PASS	0.562	FYN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000043655.1			35	37	35	37	---	---	---	---
WISP3	8838	broad.mit.edu	37	6	112382385	112382385	+	Missense_Mutation	SNP	G	G	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr6:112382385G>T	ENST00000368666.2	+	2	526	c.240G>T	c.(238-240)aaG>aaT	p.K80N	WISP3_ENST00000230529.5_Missense_Mutation_p.K80N|WISP3_ENST00000361714.1_Missense_Mutation_p.K98N|WISP3_ENST00000409166.1_5'Flank|WISP3_ENST00000368663.3_Missense_Mutation_p.K58N|WISP3_ENST00000604763.1_Missense_Mutation_p.K80N	NM_198239.1	NP_937882.1	O95389	WISP3_HUMAN	WNT1 inducible signaling pathway protein 3	80	IGFBP N-terminal. {ECO:0000255|PROSITE- ProRule:PRU00653}.				cell-cell signaling (GO:0007267)|regulation of cell growth (GO:0001558)|signal transduction (GO:0007165)	extracellular space (GO:0005615)		p.K98N(1)		breast(1)|central_nervous_system(1)|large_intestine(3)|lung(7)|prostate(1)	13		all_cancers(87;0.000196)|Acute lymphoblastic leukemia(125;1.18e-05)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209)		all cancers(137;0.0283)|OV - Ovarian serous cystadenocarcinoma(136;0.0613)|Epithelial(106;0.0827)|GBM - Glioblastoma multiforme(226;0.0972)|BRCA - Breast invasive adenocarcinoma(108;0.246)		TCTGTGCCAAGCAACCAGGGG	0.537																																						uc003pvm.2																			1	Substitution - Missense(1)		lung(1)		0						c.(238-240)AAG>AAT		WNT1 inducible signaling pathway protein 3							159.0	143.0	148.0					6																	112382385		2203	4300	6503	SO:0001583	missense	8838				cell-cell signaling|regulation of cell growth|signal transduction	extracellular region|soluble fraction	growth factor activity|insulin-like growth factor binding	g.chr6:112382385G>T	AF100781	CCDS5097.1, CCDS5098.1	6q21	2014-05-06			ENSG00000112761	ENSG00000112761			12771	protein-coding gene	gene with protein product		603400				9843955	Standard	NM_003880		Approved	CCN6	uc003pvo.3	O95389	OTTHUMG00000185101	ENST00000368666.2:c.240G>T	6.37:g.112382385G>T	ENSP00000357655:p.Lys80Asn					WISP3_uc003pvn.2_RNA|WISP3_uc003pvo.2_Missense_Mutation_p.K98N	p.K80N	NM_003880	NP_003871	O95389	WISP3_HUMAN		all cancers(137;0.0283)|OV - Ovarian serous cystadenocarcinoma(136;0.0613)|Epithelial(106;0.0827)|GBM - Glioblastoma multiforme(226;0.0972)|BRCA - Breast invasive adenocarcinoma(108;0.246)	3	350	+		all_cancers(87;0.000196)|Acute lymphoblastic leukemia(125;1.18e-05)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209)	80			IGFBP N-terminal.		Q3KR29|Q5H8W4|Q6UXH6	Missense_Mutation	SNP	ENST00000368666.2	37	c.240G>T	CCDS5098.1	.	.	.	.	.	.	.	.	.	.	G	17.83	3.486641	0.63962	.	.	ENSG00000112761	ENST00000368666;ENST00000230529;ENST00000361714;ENST00000541400;ENST00000368663	T;T;T;T	0.60171	0.21;0.21;0.21;0.21	4.62	3.75	0.43078	Insulin-like growth factor-binding protein, IGFBP (3);Insulin-like growth factor binding protein, N-terminal, Cys-rich conserved site (1);	0.225040	0.44483	D	0.000451	T	0.58438	0.2122	M	0.81497	2.545	0.38980	D	0.958928	D;P	0.54772	0.968;0.942	P;P	0.54759	0.732;0.76	T	0.63883	-0.6536	10	0.52906	T	0.07	-0.063	9.3436	0.38096	0.1653:0.0:0.8347:0.0	.	98;80	O95389-2;O95389	.;WISP3_HUMAN	N	80;80;98;80;58	ENSP00000357655:K80N;ENSP00000230529:K80N;ENSP00000354734:K98N;ENSP00000357652:K58N	ENSP00000230529:K80N	K	+	3	2	WISP3	112489078	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	1.380000	0.34351	1.055000	0.40461	0.563000	0.77884	AAG		PASS	0.537	WISP3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041873.2	NM_003880		61	50	61	50	---	---	---	---
LAMA4	3910	broad.mit.edu	37	6	112462013	112462013	+	Silent	SNP	C	C	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr6:112462013C>T	ENST00000230538.7	-	22	3322	c.2925G>A	c.(2923-2925)ctG>ctA	p.L975L	LAMA4_ENST00000522006.1_Silent_p.L968L|LAMA4_ENST00000389463.4_Silent_p.L968L|LAMA4_ENST00000424408.2_Silent_p.L968L	NM_001105206.2	NP_001098676.2	Q16363	LAMA4_HUMAN	laminin, alpha 4	975	Laminin G-like 1. {ECO:0000255|PROSITE- ProRule:PRU00122}.				blood vessel development (GO:0001568)|brown fat cell differentiation (GO:0050873)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)	basal lamina (GO:0005605)|basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)	extracellular matrix structural constituent (GO:0005201)	p.L968L(1)		NS(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(42)|ovary(4)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(8)	100		all_cancers(87;0.000196)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209)		all cancers(137;0.0335)|OV - Ovarian serous cystadenocarcinoma(136;0.0578)|Epithelial(106;0.0748)|BRCA - Breast invasive adenocarcinoma(108;0.242)		CCTCAGGGTCCAGGTCCAGCA	0.428																																						uc003pvu.2																			1	Substitution - coding silent(1)		lung(1)	ovary(4)|breast(2)|large_intestine(1)|central_nervous_system(1)|pancreas(1)	9						c.(2923-2925)CTG>CTA		laminin, alpha 4 isoform 1 precursor							93.0	88.0	90.0					6																	112462013		2203	4300	6503	SO:0001819	synonymous_variant	3910				cell adhesion|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	extracellular matrix structural constituent|receptor binding	g.chr6:112462013C>T		CCDS34514.1, CCDS43491.1, CCDS43492.1	6q21	2014-09-17			ENSG00000112769	ENSG00000112769		"""Laminins"""	6484	protein-coding gene	gene with protein product		600133				7959779	Standard	NM_001105206		Approved	LAMA3	uc003pvu.3	Q16363	OTTHUMG00000015386	ENST00000230538.7:c.2925G>A	6.37:g.112462013C>T						LAMA4_uc003pvv.2_Silent_p.L968L|LAMA4_uc003pvt.2_Silent_p.L968L	p.L975L	NM_001105206	NP_001098676	Q16363	LAMA4_HUMAN		all cancers(137;0.0335)|OV - Ovarian serous cystadenocarcinoma(136;0.0578)|Epithelial(106;0.0748)|BRCA - Breast invasive adenocarcinoma(108;0.242)	22	3234	-		all_cancers(87;0.000196)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209)	975			Laminin G-like 1.		Q14731|Q14735|Q15335|Q4LE44|Q5SZG8|Q9BTB8|Q9UE18|Q9UJN9	Silent	SNP	ENST00000230538.7	37	c.2925G>A	CCDS43491.1																																																																																				PASS	0.428	LAMA4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000041876.2	NM_001105206		45	54	45	54	---	---	---	---
LAMA4	3910	broad.mit.edu	37	6	112486416	112486416	+	Silent	SNP	C	C	G	rs143587921		TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr6:112486416C>G	ENST00000230538.7	-	13	2011	c.1614G>C	c.(1612-1614)gcG>gcC	p.A538A	LAMA4_ENST00000522006.1_Silent_p.A531A|RP1-142L7.5_ENST00000585373.1_RNA|LAMA4_ENST00000389463.4_Silent_p.A531A|LAMA4_ENST00000424408.2_Silent_p.A531A	NM_001105206.2	NP_001098676.2	Q16363	LAMA4_HUMAN	laminin, alpha 4	538	Domain II and I.				blood vessel development (GO:0001568)|brown fat cell differentiation (GO:0050873)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)	basal lamina (GO:0005605)|basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)	extracellular matrix structural constituent (GO:0005201)	p.A531A(1)		NS(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(42)|ovary(4)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(8)	100		all_cancers(87;0.000196)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209)		all cancers(137;0.0335)|OV - Ovarian serous cystadenocarcinoma(136;0.0578)|Epithelial(106;0.0748)|BRCA - Breast invasive adenocarcinoma(108;0.242)		TCAGAGAGTCCGCAGATGTGC	0.438																																						uc003pvu.2																			1	Substitution - coding silent(1)		lung(1)	ovary(4)|breast(2)|large_intestine(1)|central_nervous_system(1)|pancreas(1)	9						c.(1612-1614)GCG>GCC		laminin, alpha 4 isoform 1 precursor							185.0	163.0	170.0					6																	112486416		2203	4300	6503	SO:0001819	synonymous_variant	3910				cell adhesion|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	extracellular matrix structural constituent|receptor binding	g.chr6:112486416C>G		CCDS34514.1, CCDS43491.1, CCDS43492.1	6q21	2014-09-17			ENSG00000112769	ENSG00000112769		"""Laminins"""	6484	protein-coding gene	gene with protein product		600133				7959779	Standard	NM_001105206		Approved	LAMA3	uc003pvu.3	Q16363	OTTHUMG00000015386	ENST00000230538.7:c.1614G>C	6.37:g.112486416C>G						LAMA4_uc003pvv.2_Silent_p.A531A|LAMA4_uc003pvt.2_Silent_p.A531A	p.A538A	NM_001105206	NP_001098676	Q16363	LAMA4_HUMAN		all cancers(137;0.0335)|OV - Ovarian serous cystadenocarcinoma(136;0.0578)|Epithelial(106;0.0748)|BRCA - Breast invasive adenocarcinoma(108;0.242)	13	1923	-		all_cancers(87;0.000196)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209)	538			Domain II and I.		Q14731|Q14735|Q15335|Q4LE44|Q5SZG8|Q9BTB8|Q9UE18|Q9UJN9	Silent	SNP	ENST00000230538.7	37	c.1614G>C	CCDS43491.1																																																																																				PASS	0.438	LAMA4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000041876.2	NM_001105206		62	61	62	61	---	---	---	---
DCBLD1	285761	broad.mit.edu	37	6	117858346	117858346	+	Splice_Site	SNP	A	A	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr6:117858346A>T	ENST00000338728.5	+	7	839		c.e7-1		DCBLD1_ENST00000296955.8_Splice_Site|DCBLD1_ENST00000368503.4_Splice_Site|GOPC_ENST00000467125.1_Intron			Q8N8Z6	DCBD1_HUMAN	discoidin, CUB and LCCL domain containing 1						cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)		p.?(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(15)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	26		all_cancers(87;0.171)		GBM - Glioblastoma multiforme(226;0.0447)|OV - Ovarian serous cystadenocarcinoma(136;0.0921)|all cancers(137;0.125)		TTATTGTTTCAGTGGTTCCCT	0.423																																						uc003pxs.2																			1	Unknown(1)		lung(1)	ovary(1)	1						c.e7-2		discoidin, CUB and LCCL domain containing 1							350.0	313.0	326.0					6																	117858346		2203	4300	6503	SO:0001630	splice_region_variant	285761				cell adhesion	integral to membrane		g.chr6:117858346A>T	AK055462	CCDS34522.1	6q22.31	2003-06-20			ENSG00000164465	ENSG00000164465			21479	protein-coding gene	gene with protein product							Standard	NM_173674		Approved	MGC46341, dJ94G16.1	uc003pxs.3	Q8N8Z6	OTTHUMG00000015455	ENST00000338728.5:c.720-1A>T	6.37:g.117858346A>T						GOPC_uc003pxq.1_Intron|DCBLD1_uc003pxr.1_Splice_Site_p.D240_splice|DCBLD1_uc003pxt.1_5'Flank	p.D240_splice	NM_173674	NP_775945	Q8N8Z6	DCBD1_HUMAN		GBM - Glioblastoma multiforme(226;0.0447)|OV - Ovarian serous cystadenocarcinoma(136;0.0921)|all cancers(137;0.125)	7	845	+		all_cancers(87;0.171)						Q5H992|Q8IYK5|Q8N7L9|Q96NH2	Splice_Site	SNP	ENST00000338728.5	37	c.720_splice		.	.	.	.	.	.	.	.	.	.	A	20.3	3.973405	0.74246	.	.	ENSG00000164465	ENST00000296955;ENST00000368503;ENST00000338728	.	.	.	4.7	4.7	0.59300	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.3348	0.66581	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	DCBLD1	117965039	1.000000	0.71417	0.998000	0.56505	0.987000	0.75469	6.079000	0.71291	1.983000	0.57843	0.383000	0.25322	.		PASS	0.423	DCBLD1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000041979.2	NM_173674	Intron	111	87	111	87	---	---	---	---
LAMA2	3908	broad.mit.edu	37	6	129674447	129674447	+	Silent	SNP	A	A	G			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr6:129674447A>G	ENST00000421865.2	+	32	4711	c.4662A>G	c.(4660-4662)ggA>ggG	p.G1554G		NM_000426.3|NM_001079823.1	NP_000417|NP_001073291.1	P24043	LAMA2_HUMAN	laminin, alpha 2	1554	Laminin EGF-like 17. {ECO:0000255|PROSITE-ProRule:PRU00460}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|muscle organ development (GO:0007517)|myelination in peripheral nervous system (GO:0022011)|positive regulation of synaptic transmission, cholinergic (GO:0032224)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)	basement membrane (GO:0005604)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|sarcolemma (GO:0042383)	structural molecule activity (GO:0005198)	p.G1554G(1)		NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		GAGCCACGGGAAGGAAGTGTG	0.557																																						uc003qbn.2																			1	Substitution - coding silent(1)		lung(1)	ovary(8)|breast(1)|skin(1)	10						c.(4660-4662)GGA>GGG		laminin alpha 2 subunit isoform a precursor							107.0	92.0	97.0					6																	129674447		2203	4300	6503	SO:0001819	synonymous_variant	3908				cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity	g.chr6:129674447A>G	Z26653	CCDS5138.1	6q22-q23	2014-09-17	2008-08-01		ENSG00000196569	ENSG00000196569		"""Laminins"""	6482	protein-coding gene	gene with protein product	"""merosin"", ""congenital muscular dystrophy"""	156225		LAMM		2185464, 8294519	Standard	NM_000426		Approved		uc003qbn.3	P24043	OTTHUMG00000015545	ENST00000421865.2:c.4662A>G	6.37:g.129674447A>G						LAMA2_uc003qbo.2_Silent_p.G1554G	p.G1554G	NM_000426	NP_000417	P24043	LAMA2_HUMAN		OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)	32	4767	+			1554			Laminin EGF-like 17.		Q14736|Q5VUM2|Q93022	Silent	SNP	ENST00000421865.2	37	c.4662A>G	CCDS5138.1																																																																																				PASS	0.557	LAMA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042180.1			61	55	61	55	---	---	---	---
SAMD3	154075	broad.mit.edu	37	6	130505284	130505284	+	Missense_Mutation	SNP	C	C	A	rs41285308	byFrequency	TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr6:130505284C>A	ENST00000368134.2	-	9	1226	c.618G>T	c.(616-618)caG>caT	p.Q206H	SAMD3_ENST00000437477.2_Missense_Mutation_p.Q206H|SAMD3_ENST00000324172.6_Missense_Mutation_p.Q206H|SAMD3_ENST00000532763.1_Missense_Mutation_p.Q204H|SAMD3_ENST00000457563.2_Missense_Mutation_p.Q230H|SAMD3_ENST00000533296.1_5'UTR|SAMD3_ENST00000439090.2_Missense_Mutation_p.Q206H	NM_001258275.1	NP_001245204.1	Q8N6K7	SAMD3_HUMAN	sterile alpha motif domain containing 3	206								p.Q206H(2)		breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(3)|lung(15)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	29				GBM - Glioblastoma multiforme(226;0.00594)|OV - Ovarian serous cystadenocarcinoma(155;0.128)		AAGGGTGGGCCTGCAGCAGGG	0.473																																						uc003qbv.2																			2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(616-618)CAG>CAT		sterile alpha motif domain containing 3 isoform							103.0	89.0	94.0					6																	130505284		2203	4300	6503	SO:0001583	missense	154075							g.chr6:130505284C>A	AK091351	CCDS34539.1, CCDS64525.1	6q23.1	2013-01-10			ENSG00000164483	ENSG00000164483		"""Sterile alpha motif (SAM) domain containing"""	21574	protein-coding gene	gene with protein product							Standard	NM_001017373		Approved	bA73O6.2, FLJ34032	uc031spp.1	Q8N6K7	OTTHUMG00000015556	ENST00000368134.2:c.618G>T	6.37:g.130505284C>A	ENSP00000357116:p.Gln206His					SAMD3_uc003qbx.2_Missense_Mutation_p.Q206H|SAMD3_uc003qbw.2_Missense_Mutation_p.Q206H|SAMD3_uc010kfg.1_Missense_Mutation_p.Q206H|SAMD3_uc003qby.2_Missense_Mutation_p.Q206H|SAMD3_uc003qbz.1_Missense_Mutation_p.Q165H	p.Q206H	NM_001017373	NP_001017373	Q8N6K7	SAMD3_HUMAN		GBM - Glioblastoma multiforme(226;0.00594)|OV - Ovarian serous cystadenocarcinoma(155;0.128)	8	944	-			206					B4DY20|E1P576|J3KQK4|Q4VXD8|Q8NAY1|Q8NB96	Missense_Mutation	SNP	ENST00000368134.2	37	c.618G>T	CCDS34539.1	.	.	.	.	.	.	.	.	.	.	C	19.73	3.882225	0.72294	.	.	ENSG00000164483	ENST00000368134;ENST00000457563;ENST00000439090;ENST00000437477;ENST00000532763;ENST00000324172;ENST00000532309	T;T;T;T;T;T;T	0.53206	0.74;0.73;0.74;0.74;0.78;0.63;0.63	5.53	3.69	0.42338	.	0.089265	0.49305	D	0.000144	T	0.50990	0.1648	M	0.74881	2.28	0.37087	D	0.899264	P;D;P;P	0.71674	0.938;0.998;0.911;0.857	P;P;P;P	0.61397	0.754;0.888;0.826;0.65	T	0.58702	-0.7590	10	0.87932	D	0	.	9.265	0.37636	0.0:0.8266:0.0:0.1734	.	230;205;206;206	B4DY20;Q4VXD9;Q8N6K7-2;Q8N6K7	.;.;.;SAMD3_HUMAN	H	206;230;206;206;204;206;205	ENSP00000357116:Q206H;ENSP00000402092:Q230H;ENSP00000403565:Q206H;ENSP00000391163:Q206H;ENSP00000436088:Q204H;ENSP00000324874:Q206H;ENSP00000436115:Q205H	ENSP00000324874:Q206H	Q	-	3	2	SAMD3	130546977	1.000000	0.71417	0.958000	0.39756	0.943000	0.58893	0.951000	0.29135	0.634000	0.30469	0.655000	0.94253	CAG		PASS	0.473	SAMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042197.3	NM_152552		36	36	36	36	---	---	---	---
ENPP3	5169	broad.mit.edu	37	6	132014756	132014756	+	Silent	SNP	G	G	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr6:132014756G>T	ENST00000414305.1	+	16	1732	c.1404G>T	c.(1402-1404)ctG>ctT	p.L468L	ENPP3_ENST00000357639.3_Silent_p.L468L|ENPP3_ENST00000358229.5_Silent_p.L468L			O14638	ENPP3_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 3	468	Phosphodiesterase.				immune response (GO:0006955)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|nucleoside triphosphate catabolic process (GO:0009143)|phosphate-containing compound metabolic process (GO:0006796)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|perinuclear region of cytoplasm (GO:0048471)	metal ion binding (GO:0046872)|NADH pyrophosphatase activity (GO:0035529)|nucleic acid binding (GO:0003676)|nucleoside-triphosphate diphosphatase activity (GO:0047429)|nucleotide diphosphatase activity (GO:0004551)|phosphodiesterase I activity (GO:0004528)|polysaccharide binding (GO:0030247)|scavenger receptor activity (GO:0005044)	p.L468L(1)		NS(1)|breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(24)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	53	Breast(56;0.0753)			GBM - Glioblastoma multiforme(226;0.0252)|OV - Ovarian serous cystadenocarcinoma(155;0.0511)		AACAGTGGCTGGCTGTTAGGT	0.393																																						uc003qcu.3																			1	Substitution - coding silent(1)		lung(1)	ovary(3)|skin(1)	4						c.(1402-1404)CTG>CTT		ectonucleotide pyrophosphatase/phosphodiesterase							209.0	181.0	190.0					6																	132014756		2203	4300	6503	SO:0001819	synonymous_variant	5169				immune response|nucleoside triphosphate catabolic process|phosphate metabolic process	extracellular region|integral to plasma membrane|perinuclear region of cytoplasm	metal ion binding|nucleic acid binding|nucleoside-triphosphate diphosphatase activity|nucleotide diphosphatase activity|phosphodiesterase I activity|polysaccharide binding|scavenger receptor activity	g.chr6:132014756G>T	AF005632	CCDS5148.1	6q22	2010-06-23			ENSG00000154269	ENSG00000154269	3.1.4.1, 3.6.1.9	"""CD molecules"""	3358	protein-coding gene	gene with protein product		602182		PDNP3		9344668	Standard	NM_005021		Approved	PD-IBETA, gp130RB13-6, B10, CD203c	uc003qcv.3	O14638	OTTHUMG00000016292	ENST00000414305.1:c.1404G>T	6.37:g.132014756G>T						ENPP3_uc010kfq.2_RNA|ENPP3_uc003qcv.2_Silent_p.L468L	p.L468L	NM_005021	NP_005012	O14638	ENPP3_HUMAN		GBM - Glioblastoma multiforme(226;0.0252)|OV - Ovarian serous cystadenocarcinoma(155;0.0511)	16	1751	+	Breast(56;0.0753)		468			Extracellular (Potential).|Phosphodiesterase.		Q5JTL3	Silent	SNP	ENST00000414305.1	37	c.1404G>T	CCDS5148.1																																																																																				PASS	0.393	ENPP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043627.2			71	70	71	70	---	---	---	---
BCLAF1	9774	broad.mit.edu	37	6	136599464	136599464	+	Missense_Mutation	SNP	C	C	G			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr6:136599464C>G	ENST00000531224.1	-	4	807	c.555G>C	c.(553-555)gaG>gaC	p.E185D	BCLAF1_ENST00000527759.1_Missense_Mutation_p.E183D|BCLAF1_ENST00000392348.2_Missense_Mutation_p.E183D|BCLAF1_ENST00000527536.1_Missense_Mutation_p.E185D|BCLAF1_ENST00000353331.4_Missense_Mutation_p.E183D|BCLAF1_ENST00000530767.1_Missense_Mutation_p.E185D	NM_001077441.1|NM_014739.2	NP_001070909.1|NP_055554.1	Q9NYF8	BCLF1_HUMAN	BCL2-associated transcription factor 1	185					apoptotic process (GO:0006915)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of apoptotic process (GO:0043065)|positive regulation of DNA-templated transcription, initiation (GO:2000144)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of response to DNA damage stimulus (GO:2001022)|regulation of DNA-templated transcription in response to stress (GO:0043620)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)	p.E185D(1)		haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|ovary(1)|skin(1)	9	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331)		CTTTCGGTTCCTCCTGTGATT	0.423																																					Colon(142;1534 1789 5427 7063 28491)	uc003qgx.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(553-555)GAG>GAC		BCL2-associated transcription factor 1 isoform							249.0	244.0	245.0					6																	136599464		2203	4300	6503	SO:0001583	missense	9774				induction of apoptosis|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding	g.chr6:136599464C>G	AF249273	CCDS5177.1, CCDS47485.1, CCDS47486.1, CCDS75525.1	6q22-q23	2007-03-02			ENSG00000029363	ENSG00000029363			16863	protein-coding gene	gene with protein product		612588				8724849, 10330179	Standard	NM_001077440		Approved	KIAA0164, BTF	uc003qgx.1	Q9NYF8	OTTHUMG00000033323	ENST00000531224.1:c.555G>C	6.37:g.136599464C>G	ENSP00000435210:p.Glu185Asp					BCLAF1_uc003qgw.1_Missense_Mutation_p.E185D|BCLAF1_uc003qgy.1_Missense_Mutation_p.E183D|BCLAF1_uc011edc.1_RNA|BCLAF1_uc011edd.1_RNA|BCLAF1_uc011ede.1_Missense_Mutation_p.E183D	p.E185D	NM_014739	NP_055554	Q9NYF8	BCLF1_HUMAN		GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331)	4	808	-	Colorectal(23;0.24)		185					A2RU75|B7ZM58|E1P586|Q14673|Q86WU6|Q86WY0	Missense_Mutation	SNP	ENST00000531224.1	37	c.555G>C	CCDS5177.1	.	.	.	.	.	.	.	.	.	.	C	3.960	-0.010430	0.07727	.	.	ENSG00000029363	ENST00000531224;ENST00000353331;ENST00000527536;ENST00000530767;ENST00000527759;ENST00000392348;ENST00000529826	T;T;T;T;T;T;T	0.14022	2.54;2.54;2.54;2.54;2.54;2.54;2.54	5.77	-1.11	0.09840	.	0.083646	0.50627	D	0.000120	T	0.02047	0.0064	L	0.32530	0.975	0.80722	D	1	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.01281	0.0;0.0;0.0;0.0	T	0.42085	-0.9472	10	0.17832	T	0.49	-12.3553	0.8562	0.01183	0.1913:0.3564:0.1663:0.286	.	183;183;185;185	Q9NYF8-2;Q9NYF8-3;Q9NYF8;Q9NYF8-4	.;.;BCLF1_HUMAN;.	D	185;183;185;185;183;183;185	ENSP00000435210:E185D;ENSP00000229446:E183D;ENSP00000435441:E185D;ENSP00000436501:E185D;ENSP00000434826:E183D;ENSP00000376159:E183D;ENSP00000431734:E185D	ENSP00000229446:E183D	E	-	3	2	BCLAF1	136641157	0.889000	0.30405	0.992000	0.48379	0.971000	0.66376	-0.174000	0.09839	-0.111000	0.12001	-0.182000	0.12963	GAG		PASS	0.423	BCLAF1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042375.2	NM_014739		67	325	67	325	---	---	---	---
BCLAF1	9774	broad.mit.edu	37	6	136600970	136600970	+	Missense_Mutation	SNP	C	C	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr6:136600970C>T	ENST00000531224.1	-	3	287	c.35G>A	c.(34-36)aGg>aAg	p.R12K	BCLAF1_ENST00000527759.1_Missense_Mutation_p.R12K|BCLAF1_ENST00000392348.2_Missense_Mutation_p.R12K|BCLAF1_ENST00000527536.1_Missense_Mutation_p.R12K|BCLAF1_ENST00000353331.4_Missense_Mutation_p.R12K|BCLAF1_ENST00000530767.1_Missense_Mutation_p.R12K	NM_001077441.1|NM_014739.2	NP_001070909.1|NP_055554.1	Q9NYF8	BCLF1_HUMAN	BCL2-associated transcription factor 1	12					apoptotic process (GO:0006915)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of apoptotic process (GO:0043065)|positive regulation of DNA-templated transcription, initiation (GO:2000144)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of response to DNA damage stimulus (GO:2001022)|regulation of DNA-templated transcription in response to stress (GO:0043620)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)	p.R12K(1)		haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|ovary(1)|skin(1)	9	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331)		AGACTTTGACCTTGAAGAATG	0.303																																					Colon(142;1534 1789 5427 7063 28491)	uc003qgx.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(34-36)AGG>AAG		BCL2-associated transcription factor 1 isoform							87.0	79.0	81.0					6																	136600970		2203	4300	6503	SO:0001583	missense	9774				induction of apoptosis|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding	g.chr6:136600970C>T	AF249273	CCDS5177.1, CCDS47485.1, CCDS47486.1, CCDS75525.1	6q22-q23	2007-03-02			ENSG00000029363	ENSG00000029363			16863	protein-coding gene	gene with protein product		612588				8724849, 10330179	Standard	NM_001077440		Approved	KIAA0164, BTF	uc003qgx.1	Q9NYF8	OTTHUMG00000033323	ENST00000531224.1:c.35G>A	6.37:g.136600970C>T	ENSP00000435210:p.Arg12Lys					BCLAF1_uc003qgw.1_Missense_Mutation_p.R12K|BCLAF1_uc003qgy.1_Missense_Mutation_p.R12K|BCLAF1_uc011edc.1_RNA|BCLAF1_uc011edd.1_RNA|BCLAF1_uc011ede.1_Missense_Mutation_p.R12K	p.R12K	NM_014739	NP_055554	Q9NYF8	BCLF1_HUMAN		GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331)	3	288	-	Colorectal(23;0.24)		12					A2RU75|B7ZM58|E1P586|Q14673|Q86WU6|Q86WY0	Missense_Mutation	SNP	ENST00000531224.1	37	c.35G>A	CCDS5177.1	.	.	.	.	.	.	.	.	.	.	C	11.63	1.695374	0.30052	.	.	ENSG00000029363	ENST00000531224;ENST00000353331;ENST00000527536;ENST00000530767;ENST00000527759;ENST00000392348;ENST00000529826	T;T;T;T;T;T;T	0.51817	1.07;0.83;0.88;0.69;1.01;0.83;0.76	5.67	5.67	0.87782	.	0.000000	0.64402	D	0.000001	T	0.54838	0.1883	L	0.43152	1.355	0.80722	D	1	P;P;P;P	0.47910	0.902;0.902;0.902;0.902	P;P;P;P	0.60173	0.87;0.87;0.87;0.87	T	0.55218	-0.8175	10	0.87932	D	0	-6.8749	20.1358	0.98028	0.0:1.0:0.0:0.0	.	12;12;12;12	Q9NYF8-2;Q9NYF8-3;Q9NYF8;Q9NYF8-4	.;.;BCLF1_HUMAN;.	K	12	ENSP00000435210:R12K;ENSP00000229446:R12K;ENSP00000435441:R12K;ENSP00000436501:R12K;ENSP00000434826:R12K;ENSP00000376159:R12K;ENSP00000431734:R12K	ENSP00000229446:R12K	R	-	2	0	BCLAF1	136642663	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	5.968000	0.70413	2.833000	0.97629	0.585000	0.79938	AGG		PASS	0.303	BCLAF1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042375.2	NM_014739		8	119	8	119	---	---	---	---
GPR126	57211	broad.mit.edu	37	6	142723805	142723805	+	Missense_Mutation	SNP	G	G	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr6:142723805G>T	ENST00000230173.6	+	13	2269	c.1793G>T	c.(1792-1794)gGg>gTg	p.G598V	GPR126_ENST00000367609.3_Missense_Mutation_p.G598V|GPR126_ENST00000296932.8_Missense_Mutation_p.G570V|GPR126_ENST00000367608.2_Missense_Mutation_p.G570V	NM_020455.5	NP_065188	Q86SQ4	GP126_HUMAN	G protein-coupled receptor 126	598					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.G569V(1)|p.G598V(1)		cervix(1)|endometrium(1)|kidney(3)|large_intestine(12)|lung(10)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	36	Breast(32;0.176)			OV - Ovarian serous cystadenocarcinoma(155;9.33e-06)|GBM - Glioblastoma multiforme(68;0.00121)		ACTGCTGATGGGCAGAACTTA	0.333																																						uc010khc.2																			2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(1792-1794)GGG>GTG		G protein-coupled receptor 126 alpha 1							56.0	51.0	53.0					6																	142723805		1827	4076	5903	SO:0001583	missense	57211				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr6:142723805G>T	AK027843	CCDS47489.1, CCDS47490.1, CCDS47491.1, CCDS55064.1	6q23.1-q24.3	2014-08-08			ENSG00000112414	ENSG00000112414		"""-"", ""GPCR / Class B : Orphans"""	13841	protein-coding gene	gene with protein product		612243				12565841	Standard	NM_001032395		Approved	FLJ14937	uc010khe.3	Q86SQ4	OTTHUMG00000015709	ENST00000230173.6:c.1793G>T	6.37:g.142723805G>T	ENSP00000230173:p.Gly598Val					GPR126_uc010khd.2_Missense_Mutation_p.G570V|GPR126_uc010khe.2_Missense_Mutation_p.G598V|GPR126_uc010khf.2_Missense_Mutation_p.G570V	p.G598V	NM_020455	NP_065188	Q86SQ4	GP126_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;9.33e-06)|GBM - Glioblastoma multiforme(68;0.00121)	13	2204	+	Breast(32;0.176)		598			Extracellular (Potential).		Q5TGN7|Q6DHZ4|Q6F3F5|Q6F3F6|Q6F3F7|Q6F3F8|Q6MZU7|Q8IXA4|Q8NC14|Q96JW0	Missense_Mutation	SNP	ENST00000230173.6	37	c.1793G>T	CCDS47490.1	.	.	.	.	.	.	.	.	.	.	G	20.3	3.969787	0.74246	.	.	ENSG00000112414	ENST00000230173;ENST00000367608;ENST00000296932;ENST00000367609	T;T;T;T	0.25085	1.83;1.82;1.83;1.82	5.66	4.77	0.60923	.	0.090261	0.48286	N	0.000181	T	0.41834	0.1176	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	0.997;0.997;1.0;0.992	T	0.49000	-0.8984	10	0.87932	D	0	.	15.7566	0.78037	0.0:0.0:0.8625:0.1375	.	570;598;570;598	Q86SQ4-4;Q86SQ4-3;Q86SQ4-2;Q86SQ4	.;.;.;GP126_HUMAN	V	598;570;570;598	ENSP00000230173:G598V;ENSP00000356580:G570V;ENSP00000296932:G570V;ENSP00000356581:G598V	ENSP00000230173:G598V	G	+	2	0	GPR126	142765498	1.000000	0.71417	0.996000	0.52242	0.972000	0.66771	3.203000	0.51075	1.347000	0.45714	0.655000	0.94253	GGG		PASS	0.333	GPR126-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000042487.2			11	24	11	24	---	---	---	---
HIVEP2	3097	broad.mit.edu	37	6	143082622	143082622	+	Missense_Mutation	SNP	C	C	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr6:143082622C>A	ENST00000367604.1	-	7	6238	c.5599G>T	c.(5599-5601)Gat>Tat	p.D1867Y	HIVEP2_ENST00000367603.2_Missense_Mutation_p.D1867Y|HIVEP2_ENST00000012134.2_Missense_Mutation_p.D1867Y			P31629	ZEP2_HUMAN	human immunodeficiency virus type I enhancer binding protein 2	1867					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.D1867Y(1)		NS(2)|breast(4)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(19)|lung(35)|ovary(4)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	100				OV - Ovarian serous cystadenocarcinoma(155;1.61e-05)|GBM - Glioblastoma multiforme(68;0.0102)		GTTTCTGTATCATCCACCGAT	0.393																																					Esophageal Squamous(107;843 1510 13293 16805 42198)	uc003qjd.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|skin(2)|central_nervous_system(1)	6						c.(5599-5601)GAT>TAT		human immunodeficiency virus type I enhancer							182.0	171.0	175.0					6																	143082622		1899	4122	6021	SO:0001583	missense	3097				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr6:143082622C>A	M60119	CCDS43510.1	6q23-q24	2013-01-08	2001-11-28		ENSG00000010818	ENSG00000010818		"""Zinc fingers, C2H2-type"""	4921	protein-coding gene	gene with protein product	"""c-myc intron binding protein 1"""	143054	"""human immunodeficiency virus type I enhancer-binding protein 2"""			1733857, 2022670	Standard	NM_006734		Approved	MBP-2, HIV-EP2, MIBP1, ZAS2, Schnurri-2, ZNF40B	uc003qjd.3	P31629	OTTHUMG00000015713	ENST00000367604.1:c.5599G>T	6.37:g.143082622C>A	ENSP00000356576:p.Asp1867Tyr						p.D1867Y	NM_006734	NP_006725	P31629	ZEP2_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;1.61e-05)|GBM - Glioblastoma multiforme(68;0.0102)	8	6342	-			1867					Q02646|Q5THT5|Q9NS05	Missense_Mutation	SNP	ENST00000367604.1	37	c.5599G>T	CCDS43510.1	.	.	.	.	.	.	.	.	.	.	C	23.1	4.371340	0.82573	.	.	ENSG00000010818	ENST00000367604;ENST00000367603;ENST00000012134	T;T;T	0.02944	4.1;4.1;4.1	5.68	5.68	0.88126	.	0.089874	0.85682	D	0.000000	T	0.06280	0.0162	L	0.50333	1.59	0.80722	D	1	D	0.71674	0.998	P	0.57244	0.816	T	0.27054	-1.0085	10	0.66056	D	0.02	-15.5727	19.7939	0.96471	0.0:1.0:0.0:0.0	.	1867	P31629	ZEP2_HUMAN	Y	1867	ENSP00000356576:D1867Y;ENSP00000356575:D1867Y;ENSP00000012134:D1867Y	ENSP00000012134:D1867Y	D	-	1	0	HIVEP2	143124315	1.000000	0.71417	0.974000	0.42286	0.985000	0.73830	7.818000	0.86416	2.668000	0.90789	0.563000	0.77884	GAT		PASS	0.393	HIVEP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042495.1			138	114	138	114	---	---	---	---
RAB32	10981	broad.mit.edu	37	6	146875734	146875734	+	Missense_Mutation	SNP	G	G	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr6:146875734G>A	ENST00000367495.3	+	3	850	c.671G>A	c.(670-672)tGt>tAt	p.C224Y		NM_006834.3	NP_006825.1	Q13637	RAB32_HUMAN	RAB32, member RAS oncogene family	224					antigen processing and presentation (GO:0019882)|endosome to melanosome transport (GO:0035646)|GTP catabolic process (GO:0006184)|melanosome organization (GO:0032438)|phagosome maturation (GO:0090382)|protein transport (GO:0015031)|small GTPase mediated signal transduction (GO:0007264)	early endosome (GO:0005769)|melanosome (GO:0042470)|membrane (GO:0016020)|mitochondrion (GO:0005739)|phagocytic vesicle (GO:0045335)	AP-1 adaptor complex binding (GO:0035650)|AP-3 adaptor complex binding (GO:0035651)|GTP binding (GO:0005525)|GTP-dependent protein binding (GO:0030742)|GTPase activity (GO:0003924)|protein complex binding (GO:0032403)	p.C224Y(1)		central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)	8		Ovarian(120;0.142)		OV - Ovarian serous cystadenocarcinoma(155;2.68e-09)|GBM - Glioblastoma multiforme(68;0.00608)		AAATCCCAGTGTTGCTGATAT	0.428																																						uc003qln.1																			1	Substitution - Missense(1)		lung(1)		0						c.(670-672)TGT>TAT		RAB32, member RAS oncogene family							121.0	122.0	122.0					6																	146875734		2203	4300	6503	SO:0001583	missense	10981				protein transport|small GTPase mediated signal transduction	mitochondrion	GTP binding	g.chr6:146875734G>A	U71127	CCDS5210.1	6q24.2	2010-08-20			ENSG00000118508	ENSG00000118508		"""RAB, member RAS oncogene"", ""A-kinase anchor proteins"""	9772	protein-coding gene	gene with protein product		612906					Standard	NM_006834		Approved		uc003qln.1	Q13637	OTTHUMG00000015755	ENST00000367495.3:c.671G>A	6.37:g.146875734G>A	ENSP00000356465:p.Cys224Tyr						p.C224Y	NM_006834	NP_006825	Q13637	RAB32_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;2.68e-09)|GBM - Glioblastoma multiforme(68;0.00608)	3	851	+		Ovarian(120;0.142)	224						Missense_Mutation	SNP	ENST00000367495.3	37	c.671G>A	CCDS5210.1	.	.	.	.	.	.	.	.	.	.	G	28.0	4.878605	0.91740	.	.	ENSG00000118508	ENST00000367495	T	0.78481	-1.18	5.79	5.79	0.91817	.	0.000000	0.85682	D	0.000000	T	0.58409	0.2120	N	0.24115	0.695	0.80722	D	1	P	0.47841	0.901	B	0.37267	0.245	T	0.69165	-0.5217	10	0.87932	D	0	-17.9382	20.0473	0.97613	0.0:0.0:1.0:0.0	.	224	Q13637	RAB32_HUMAN	Y	224	ENSP00000356465:C224Y	ENSP00000356465:C224Y	C	+	2	0	RAB32	146917427	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	9.069000	0.93967	2.722000	0.93159	0.655000	0.94253	TGT		PASS	0.428	RAB32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042579.1	NM_006834		30	81	30	81	---	---	---	---
CCDC170	80129	broad.mit.edu	37	6	151939118	151939118	+	Missense_Mutation	SNP	G	G	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr6:151939118G>T	ENST00000239374.7	+	11	2083	c.1984G>T	c.(1984-1986)Ggc>Tgc	p.G662C	RNU6-813P_ENST00000384691.1_RNA|CCDC170_ENST00000367290.5_Missense_Mutation_p.G669C	NM_025059.3	NP_079335.2	Q8IYT3	CC170_HUMAN	coiled-coil domain containing 170	662								p.G662C(1)									GCAGATGCTAGGCTTGAACGT	0.448																																						uc003qol.2																			1	Substitution - Missense(1)		lung(1)		0						c.(1984-1986)GGC>TGC		hypothetical protein LOC80129							134.0	136.0	135.0					6																	151939118		2016	4175	6191	SO:0001583	missense	80129							g.chr6:151939118G>T	AK026958	CCDS43515.1	6q25.1	2012-03-26	2012-03-26	2012-03-26	ENSG00000120262	ENSG00000120262			21177	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 97"""	C6orf97			Standard	NM_025059		Approved	FLJ23305, bA282P11.1	uc003qol.3	Q8IYT3	OTTHUMG00000015839	ENST00000239374.7:c.1984G>T	6.37:g.151939118G>T	ENSP00000239374:p.Gly662Cys						p.G662C	NM_025059	NP_079335	Q8IYT3	CF097_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.111)	OV - Ovarian serous cystadenocarcinoma(155;1.48e-10)	11	2073	+		Ovarian(120;0.126)	662					Q5VXB7|Q6P9E4|Q96KA9|Q9H5M3	Missense_Mutation	SNP	ENST00000239374.7	37	c.1984G>T	CCDS43515.1	.	.	.	.	.	.	.	.	.	.	G	25.9	4.686066	0.88639	.	.	ENSG00000120262	ENST00000239374;ENST00000367290	T;T	0.21543	2.04;2.0	5.96	5.96	0.96718	.	0.000000	0.85682	D	0.000000	T	0.46541	0.1398	M	0.81239	2.535	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.46190	-0.9209	10	0.87932	D	0	-35.7348	20.4116	0.99017	0.0:0.0:1.0:0.0	.	662	Q8IYT3	CF097_HUMAN	C	662;669	ENSP00000239374:G662C;ENSP00000356259:G669C	ENSP00000239374:G662C	G	+	1	0	C6orf97	151980811	1.000000	0.71417	1.000000	0.80357	0.933000	0.57130	6.156000	0.71840	2.827000	0.97445	0.655000	0.94253	GGC		PASS	0.448	CCDC170-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000042727.2	NM_025059		45	76	45	76	---	---	---	---
ZDHHC14	79683	broad.mit.edu	37	6	158093997	158093997	+	Missense_Mutation	SNP	A	A	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr6:158093997A>T	ENST00000359775.5	+	9	2199	c.1310A>T	c.(1309-1311)cAg>cTg	p.Q437L	ZDHHC14_ENST00000414563.2_Missense_Mutation_p.Q422L|ZDHHC14_ENST00000341375.8_3'UTR			Q8IZN3	ZDH14_HUMAN	zinc finger, DHHC-type containing 14	437					protein palmitoylation (GO:0018345)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	palmitoyltransferase activity (GO:0016409)|protein-cysteine S-palmitoyltransferase activity (GO:0019706)|zinc ion binding (GO:0008270)	p.Q437L(1)		central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(8)|ovary(1)|skin(1)	17		Breast(66;0.00586)|Ovarian(120;0.123)		OV - Ovarian serous cystadenocarcinoma(65;2.9e-17)|BRCA - Breast invasive adenocarcinoma(81;5.8e-05)		ATGGGCCACCAGTTCCTGACG	0.731																																						uc003qqt.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(1309-1311)CAG>CTG		zinc finger, DHHC-type containing 14 isoform 1							16.0	15.0	15.0					6																	158093997		2188	4271	6459	SO:0001583	missense	79683					integral to membrane	acyltransferase activity|zinc ion binding	g.chr6:158093997A>T	AF542388	CCDS5252.1, CCDS47510.1	6q25.3	2008-05-02			ENSG00000175048	ENSG00000175048		"""Zinc fingers, DHHC-type"""	20341	protein-coding gene	gene with protein product							Standard	NM_024630		Approved	FLJ20984, NEW1CP	uc003qqt.3	Q8IZN3	OTTHUMG00000015896	ENST00000359775.5:c.1310A>T	6.37:g.158093997A>T	ENSP00000352821:p.Gln437Leu					ZDHHC14_uc003qqs.2_Missense_Mutation_p.Q422L|ZDHHC14_uc010kjn.2_Missense_Mutation_p.Q92L	p.Q437L	NM_024630	NP_078906	Q8IZN3	ZDH14_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;2.9e-17)|BRCA - Breast invasive adenocarcinoma(81;5.8e-05)	9	1807	+		Breast(66;0.00586)|Ovarian(120;0.123)	437					A6NDB7|Q5JS07|Q5JS08|Q6PHS4|Q8IZN2|Q9H7F1	Missense_Mutation	SNP	ENST00000359775.5	37	c.1310A>T	CCDS5252.1	.	.	.	.	.	.	.	.	.	.	A	18.96	3.733007	0.69189	.	.	ENSG00000175048	ENST00000359775;ENST00000414563;ENST00000538483	T;T	0.32515	1.45;1.45	5.62	4.44	0.53790	.	0.729493	0.13438	N	0.387926	T	0.12774	0.0310	L	0.53249	1.67	0.40844	D	0.983694	P;P	0.37276	0.454;0.589	B;B	0.32677	0.104;0.15	T	0.04767	-1.0928	10	0.12430	T	0.62	-10.8838	12.8714	0.57966	0.8639:0.1361:0.0:0.0	.	437;422	Q8IZN3;Q8IZN3-2	ZDH14_HUMAN;.	L	437;422;441	ENSP00000352821:Q437L;ENSP00000410713:Q422L	ENSP00000352821:Q437L	Q	+	2	0	ZDHHC14	158013985	1.000000	0.71417	1.000000	0.80357	0.803000	0.45373	6.985000	0.76193	1.370000	0.46153	0.563000	0.77884	CAG		PASS	0.731	ZDHHC14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042841.2	NM_153746		8	4	8	4	---	---	---	---
IGF2R	3482	broad.mit.edu	37	6	160494403	160494403	+	Nonsense_Mutation	SNP	G	G	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr6:160494403G>T	ENST00000356956.1	+	34	4997	c.4849G>T	c.(4849-4851)Gag>Tag	p.E1617*		NM_000876.2	NP_000867	P11717	MPRI_HUMAN	insulin-like growth factor 2 receptor	1617					insulin-like growth factor receptor signaling pathway (GO:0048009)|liver development (GO:0001889)|organ regeneration (GO:0031100)|positive regulation of apoptotic process (GO:0043065)|post-embryonic development (GO:0009791)|receptor-mediated endocytosis (GO:0006898)|response to retinoic acid (GO:0032526)|signal transduction (GO:0007165)|spermatogenesis (GO:0007283)	cell surface (GO:0009986)|clathrin coat (GO:0030118)|endocytic vesicle (GO:0030139)|endosome (GO:0005768)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|lysosome (GO:0005764)|membrane (GO:0016020)|nuclear envelope lumen (GO:0005641)|perinuclear region of cytoplasm (GO:0048471)|trans-Golgi network transport vesicle (GO:0030140)	G-protein coupled receptor activity (GO:0004930)|glycoprotein binding (GO:0001948)|identical protein binding (GO:0042802)|insulin-like growth factor-activated receptor activity (GO:0005010)|mannose binding (GO:0005537)|phosphoprotein binding (GO:0051219)|receptor activity (GO:0004872)|retinoic acid binding (GO:0001972)|transporter activity (GO:0005215)	p.E1617*(1)		breast(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(27)|lung(31)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	95		Breast(66;0.000777)|Ovarian(120;0.0305)		OV - Ovarian serous cystadenocarcinoma(65;2.45e-17)|BRCA - Breast invasive adenocarcinoma(81;1.09e-05)	Mecasermin(DB01277)	GTGCAGGCCTGAGGCCAGGCC	0.592																																						uc003qta.2																			1	Substitution - Nonsense(1)		lung(1)	ovary(3)	3						c.(4849-4851)GAG>TAG		insulin-like growth factor 2 receptor precursor							154.0	119.0	131.0					6																	160494403		2203	4300	6503	SO:0001587	stop_gained	3482				receptor-mediated endocytosis	cell surface|endocytic vesicle|endosome|integral to plasma membrane|lysosomal membrane|trans-Golgi network transport vesicle	glycoprotein binding|insulin-like growth factor receptor activity|phosphoprotein binding|transporter activity	g.chr6:160494403G>T	J03528	CCDS5273.1	6q25.3	2014-09-16			ENSG00000197081	ENSG00000197081		"""CD molecules"""	5467	protein-coding gene	gene with protein product	"""cation-independent mannose-6 phosphate receptor"""	147280					Standard	NM_000876		Approved	CD222, MPRI, MPR1, CIMPR, M6P-R	uc003qta.3	P11717	OTTHUMG00000015945	ENST00000356956.1:c.4849G>T	6.37:g.160494403G>T	ENSP00000349437:p.Glu1617*						p.E1617*	NM_000876	NP_000867	P11717	MPRI_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;2.45e-17)|BRCA - Breast invasive adenocarcinoma(81;1.09e-05)	34	4997	+		Breast(66;0.000777)|Ovarian(120;0.0305)	1617			11.|Lumenal (Potential).		Q7Z7G9|Q96PT5	Nonsense_Mutation	SNP	ENST00000356956.1	37	c.4849G>T	CCDS5273.1	.	.	.	.	.	.	.	.	.	.	G	44	10.707130	0.99454	.	.	ENSG00000197081	ENST00000356956	.	.	.	5.3	5.3	0.74995	.	0.685951	0.14753	N	0.300437	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.25106	T	0.35	-19.1813	19.3023	0.94148	0.0:0.0:1.0:0.0	.	.	.	.	X	1617	.	ENSP00000349437:E1617X	E	+	1	0	IGF2R	160414393	1.000000	0.71417	0.223000	0.23860	0.184000	0.23303	5.944000	0.70219	2.639000	0.89480	0.561000	0.74099	GAG		PASS	0.592	IGF2R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042931.1	NM_000876		34	35	34	35	---	---	---	---
RPS6KA2	6196	broad.mit.edu	37	6	167184401	167184401	+	Splice_Site	SNP	C	C	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr6:167184401C>A	ENST00000510118.1	-	3	464	c.124G>T	c.(124-126)Ggc>Tgc	p.G42C	RPS6KA2_ENST00000503859.1_Intron			Q15349	KS6A2_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 2	0					axon guidance (GO:0007411)|brain renin-angiotensin system (GO:0002035)|cardiac muscle cell apoptotic process (GO:0010659)|cellular response to carbohydrate stimulus (GO:0071322)|heart contraction (GO:0060047)|heart development (GO:0007507)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell proliferation (GO:0008285)|negative regulation of meiosis (GO:0045835)|neurotrophin TRK receptor signaling pathway (GO:0048011)|oocyte maturation (GO:0001556)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of apoptotic process (GO:0043065)|positive regulation of gene expression (GO:0010628)|regulation of protein processing (GO:0070613)|signal transduction (GO:0007165)|stress-activated MAPK cascade (GO:0051403)|synaptic transmission (GO:0007268)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear membrane (GO:0031965)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle (GO:0005819)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|ribosomal protein S6 kinase activity (GO:0004711)			central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(15)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	45		Breast(66;2.04e-05)|Ovarian(120;0.0652)|Prostate(117;0.105)		OV - Ovarian serous cystadenocarcinoma(33;2.76e-18)|GBM - Glioblastoma multiforme(31;9.94e-06)|BRCA - Breast invasive adenocarcinoma(81;1.36e-05)		TCACTTTTGCCCTGTGAAAAT	0.438																																						uc003qvd.1																			0				ovary(2)|lung(2)|skin(2)|large_intestine(1)|central_nervous_system(1)	8						c.(124-126)GGC>TGC		ribosomal protein S6 kinase, 90kDa, polypeptide							143.0	138.0	140.0					6																	167184401		876	1991	2867	SO:0001630	splice_region_variant	6196				axon guidance|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|stress-activated MAPK cascade|synaptic transmission|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity	g.chr6:167184401C>A	L07598	CCDS5294.1, CCDS34570.1	6q27	2011-04-05	2002-08-29		ENSG00000071242	ENSG00000071242			10431	protein-coding gene	gene with protein product		601685	"""ribosomal protein S6 kinase, 90kD, polypeptide 2"""			8141249	Standard	NM_001006932		Approved	RSK, RSK3, HU-2	uc003qvc.1	Q15349	OTTHUMG00000016007	ENST00000510118.1:c.124-1G>T	6.37:g.167184401C>A						RPS6KA2_uc003qvc.1_Intron	p.G42C	NM_021135	NP_066958	Q15349	KS6A2_HUMAN		OV - Ovarian serous cystadenocarcinoma(33;2.76e-18)|GBM - Glioblastoma multiforme(31;9.94e-06)|BRCA - Breast invasive adenocarcinoma(81;1.36e-05)	3	237	-		Breast(66;2.04e-05)|Ovarian(120;0.0652)|Prostate(117;0.105)	Error:Variant_position_missing_in_Q15349_after_alignment					B3KTK9|Q15419|Q59GJ3|Q5TI68|Q96J38|Q9UJN5	Missense_Mutation	SNP	ENST00000510118.1	37	c.124G>T		.	.	.	.	.	.	.	.	.	.	C	6.519	0.463928	0.12402	.	.	ENSG00000071242	ENST00000510118;ENST00000506565	T;T	0.70045	-0.45;-0.34	3.51	2.63	0.31362	.	.	.	.	.	T	0.35856	0.0946	.	.	.	0.80722	D	1	P	0.43352	0.804	B	0.34652	0.187	T	0.29640	-1.0005	8	0.56958	D	0.05	.	6.8543	0.24032	0.0:0.869:0.0:0.131	.	42	F2Z2J1	.	C	42	ENSP00000422435:G42C;ENSP00000425148:G42C	ENSP00000425148:G42C	G	-	1	0	RPS6KA2	167104391	1.000000	0.71417	0.923000	0.36655	0.057000	0.15508	1.296000	0.33389	0.816000	0.34421	0.462000	0.41574	GGC		PASS	0.438	RPS6KA2-005	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000362836.2	NM_021135	Missense_Mutation	56	51	56	51	---	---	---	---
THBS2	7058	broad.mit.edu	37	6	169648981	169648981	+	Missense_Mutation	SNP	C	C	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr6:169648981C>A	ENST00000366787.3	-	4	389	c.140G>T	c.(139-141)gGg>gTg	p.G47V		NM_003247.2	NP_003238.2	P35442	TSP2_HUMAN	thrombospondin 2	47	Heparin-binding. {ECO:0000255}.|Laminin G-like.				cell adhesion (GO:0007155)|negative regulation of angiogenesis (GO:0016525)|positive regulation of synapse assembly (GO:0051965)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|platelet alpha granule (GO:0031091)	calcium ion binding (GO:0005509)|heparin binding (GO:0008201)	p.G47E(1)|p.G47V(1)		NS(3)|biliary_tract(1)|endometrium(8)|kidney(3)|large_intestine(23)|liver(1)|lung(56)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	111		Breast(66;1.78e-05)|Ovarian(120;0.0728)|Esophageal squamous(34;0.247)		OV - Ovarian serous cystadenocarcinoma(33;1.85e-21)|BRCA - Breast invasive adenocarcinoma(81;1.43e-06)|GBM - Glioblastoma multiforme(31;0.000379)		GGGGTCGGGCCCGCGGAACTG	0.582																																					Esophageal Squamous(91;219 1934 18562 44706)	uc003qwt.2																			2	Substitution - Missense(2)		lung(2)	ovary(5)	5						c.(139-141)GGG>GTG		thrombospondin 2 precursor							97.0	78.0	84.0					6																	169648981		2203	4300	6503	SO:0001583	missense	7058				cell adhesion	extracellular region	calcium ion binding|heparin binding|protein binding|structural molecule activity	g.chr6:169648981C>A		CCDS34574.1	6q27	2008-07-28			ENSG00000186340	ENSG00000186340			11786	protein-coding gene	gene with protein product		188061				18455130	Standard	NM_003247		Approved	TSP2	uc003qwt.3	P35442	OTTHUMG00000045408	ENST00000366787.3:c.140G>T	6.37:g.169648981C>A	ENSP00000355751:p.Gly47Val						p.G47V	NM_003247	NP_003238	P35442	TSP2_HUMAN		OV - Ovarian serous cystadenocarcinoma(33;1.85e-21)|BRCA - Breast invasive adenocarcinoma(81;1.43e-06)|GBM - Glioblastoma multiforme(31;0.000379)	4	388	-		Breast(66;1.78e-05)|Ovarian(120;0.0728)|Esophageal squamous(34;0.247)	47			TSP N-terminal.|Heparin-binding (Potential).		A6H8N1|A7E232|Q5RI52	Missense_Mutation	SNP	ENST00000366787.3	37	c.140G>T	CCDS34574.1	.	.	.	.	.	.	.	.	.	.	C	21.9	4.219205	0.79464	.	.	ENSG00000186340	ENST00000366787;ENST00000435791	T;T	0.03889	3.77;3.77	4.42	4.42	0.53409	Concanavalin A-like lectin/glucanase (1);Laminin G, thrombospondin-type, N-terminal (1);	0.000000	0.41823	U	0.000811	T	0.16642	0.0400	M	0.80982	2.52	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.02333	-1.1175	10	0.87932	D	0	-36.5525	17.4031	0.87466	0.0:1.0:0.0:0.0	.	47	P35442	TSP2_HUMAN	V	47	ENSP00000355751:G47V;ENSP00000398928:G47V	ENSP00000355751:G47V	G	-	2	0	THBS2	169390906	1.000000	0.71417	0.958000	0.39756	0.622000	0.37654	7.304000	0.78882	2.180000	0.69256	0.462000	0.41574	GGG		PASS	0.582	THBS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000105439.1	NM_003247		36	28	36	28	---	---	---	---
SUN1	23353	broad.mit.edu	37	7	883097	883097	+	Missense_Mutation	SNP	G	G	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr7:883097G>T	ENST00000405266.1	+	5	622	c.598G>T	c.(598-600)Gcg>Tcg	p.A200S	SUN1_ENST00000389574.3_Missense_Mutation_p.A150S|SUN1_ENST00000456758.2_Missense_Mutation_p.A258S|SUN1_ENST00000457378.2_Missense_Mutation_p.A221S|SUN1_ENST00000452783.2_Intron|SUN1_ENST00000401592.1_Missense_Mutation_p.A200S|SUN1_ENST00000403868.1_Missense_Mutation_p.A200S|SUN1_ENST00000425407.2_Missense_Mutation_p.A150S			O94901	SUN1_HUMAN	Sad1 and UNC84 domain containing 1	200					cytoskeletal anchoring at nuclear membrane (GO:0090286)|nuclear envelope organization (GO:0006998)|nuclear matrix anchoring at nuclear membrane (GO:0090292)	acrosomal membrane (GO:0002080)|integral component of nuclear inner membrane (GO:0005639)|nuclear envelope (GO:0005635)|SUN-KASH complex (GO:0034993)		p.A150S(1)|p.A221S(1)|p.A200S(1)		NS(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(17)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						CGTGCTCACGGCGCACCCCGC	0.587																																						uc011jvp.1																			3	Substitution - Missense(3)		lung(3)		0						c.(598-600)GCG>TCG		unc-84 homolog A isoform a							94.0	112.0	106.0					7																	883097		1980	4147	6127	SO:0001583	missense	23353				cytoskeletal anchoring at nuclear membrane|nuclear matrix anchoring at nuclear membrane	integral to membrane|nuclear inner membrane|SUN-KASH complex	protein binding	g.chr7:883097G>T	AF202724	CCDS43533.1, CCDS47525.1, CCDS55078.1, CCDS55079.1, CCDS55080.1	7p22.3	2010-01-27	2010-01-27	2010-01-27	ENSG00000164828	ENSG00000164828			18587	protein-coding gene	gene with protein product	"""Sad1 unc-84 domain protein 1"""	607723	"""unc-84 homolog A (C. elegans)"""	UNC84A		11593002	Standard	NM_001130965		Approved	KIAA0810, FLJ12407	uc021zym.1	O94901	OTTHUMG00000151426	ENST00000405266.1:c.598G>T	7.37:g.883097G>T	ENSP00000384116:p.Ala200Ser					SUN1_uc010ksa.1_Missense_Mutation_p.A221S|SUN1_uc003sje.1_Missense_Mutation_p.A200S|SUN1_uc003sjf.2_Missense_Mutation_p.A150S|SUN1_uc011jvq.1_Intron|SUN1_uc003sjg.2_Missense_Mutation_p.A11S	p.A200S	NM_001130965	NP_001124437	O94901	SUN1_HUMAN			6	677	+			200			Nuclear.		A5PL20|B3KMV7|B4DZF7|B7WNY4|B7WP53|E9PDU4|E9PF23|F8WD13|Q96CZ7|Q9HA14|Q9UH98	Missense_Mutation	SNP	ENST00000405266.1	37	c.598G>T		.	.	.	.	.	.	.	.	.	.	G	15.06	2.721647	0.48728	.	.	ENSG00000164828	ENST00000456758;ENST00000389574;ENST00000457378;ENST00000405266;ENST00000401592;ENST00000403868;ENST00000297445;ENST00000425407;ENST00000429178	T;T;T;T;T;T;T;T	0.49432	0.78;0.78;0.78;0.78;0.78;0.78;0.78;0.78	4.4	0.442	0.16582	.	0.491563	0.22757	N	0.056017	T	0.52645	0.1747	M	0.70275	2.135	0.29637	N	0.845005	P;D;D;P	0.60160	0.868;0.987;0.979;0.543	P;P;P;B	0.58172	0.755;0.834;0.742;0.266	T	0.49588	-0.8924	10	0.25106	T	0.35	-16.6476	5.2877	0.15710	0.2403:0.0:0.617:0.1427	.	200;221;150;200	E9PF23;F8WD13;O94901-5;O94901-3	.;.;.;.	S	258;150;221;200;200;200;200;150;31	ENSP00000388743:A258S;ENSP00000374225:A150S;ENSP00000395952:A221S;ENSP00000384116:A200S;ENSP00000384015:A200S;ENSP00000383947:A200S;ENSP00000392309:A150S;ENSP00000409909:A31S	ENSP00000297445:A200S	A	+	1	0	SUN1	849623	0.044000	0.20184	0.002000	0.10522	0.036000	0.12997	0.638000	0.24674	0.089000	0.17243	0.591000	0.81541	GCG		PASS	0.587	SUN1-001	NOVEL	not_organism_supported|basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000322566.1	NM_025154		59	225	59	225	---	---	---	---
INTS1	26173	broad.mit.edu	37	7	1532691	1532691	+	Missense_Mutation	SNP	T	T	C			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr7:1532691T>C	ENST00000404767.3	-	16	2205	c.2120A>G	c.(2119-2121)aAt>aGt	p.N707S	INTS1_ENST00000389470.4_Missense_Mutation_p.N835S	NM_001080453.2	NP_001073922.2	Q8N201	INT1_HUMAN	integrator complex subunit 1	707					inner cell mass cell proliferation (GO:0001833)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|snRNA processing (GO:0016180)|U2 snRNA 3'-end processing (GO:0034474)	integral component of membrane (GO:0016021)|integrator complex (GO:0032039)|membrane (GO:0016020)		p.N835S(1)		autonomic_ganglia(1)|cervix(1)|endometrium(14)|kidney(3)|large_intestine(7)|lung(24)|ovary(1)|prostate(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	62		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0181)|OV - Ovarian serous cystadenocarcinoma(56;6.99e-15)		GGTGCACAGATTCAGAACGGC	0.637																																						uc003skn.2																			1	Substitution - Missense(1)		lung(1)		0						c.(2119-2121)AAT>AGT		integrator complex subunit 1							117.0	119.0	118.0					7																	1532691		2084	4193	6277	SO:0001583	missense	26173				snRNA processing	integral to membrane|integrator complex|nuclear membrane		g.chr7:1532691T>C	AB037861	CCDS47526.1	7p22.3	2009-11-06			ENSG00000164880	ENSG00000164880			24555	protein-coding gene	gene with protein product		611345				16239144	Standard	NM_001080453		Approved	DKFZp586J0619, KIAA1440, INT1, NET28	uc003skn.2	Q8N201	OTTHUMG00000151449	ENST00000404767.3:c.2120A>G	7.37:g.1532691T>C	ENSP00000385722:p.Asn707Ser					INTS1_uc003skp.1_Missense_Mutation_p.N54S	p.N707S	NM_001080453	NP_001073922	Q8N201	INT1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0181)|OV - Ovarian serous cystadenocarcinoma(56;6.99e-15)	16	2221	-		Ovarian(82;0.0253)	707					A6NJ44|Q6NT70|Q6UX74|Q8WV40|Q96D36|Q9NTD1|Q9P2A8|Q9Y3W8	Missense_Mutation	SNP	ENST00000404767.3	37	c.2120A>G	CCDS47526.1	.	.	.	.	.	.	.	.	.	.	T	13.01	2.110181	0.37242	.	.	ENSG00000164880	ENST00000404767;ENST00000389470	T;T	0.68624	-0.34;-0.34	4.42	4.42	0.53409	.	0.000000	0.85682	D	0.000000	T	0.59307	0.2184	L	0.43152	1.355	0.58432	D	0.999998	B;B	0.32526	0.374;0.264	B;B	0.33690	0.118;0.168	T	0.59643	-0.7416	10	0.36615	T	0.2	.	13.9638	0.64196	0.0:0.0:0.0:1.0	.	835;707	A4D213;Q8N201	.;INT1_HUMAN	S	707;835	ENSP00000385722:N707S;ENSP00000374121:N835S	ENSP00000374121:N835S	N	-	2	0	INTS1	1499217	1.000000	0.71417	0.999000	0.59377	0.407000	0.30961	7.539000	0.82063	1.746000	0.51805	0.533000	0.62120	AAT		PASS	0.637	INTS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323683.1			18	55	18	55	---	---	---	---
INTS1	26173	broad.mit.edu	37	7	1539521	1539521	+	Splice_Site	SNP	T	T	A	rs373268222		TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr7:1539521T>A	ENST00000404767.3	-	5	768	c.683A>T	c.(682-684)aAg>aTg	p.K228M	INTS1_ENST00000389470.4_Splice_Site_p.K356M|INTS1_ENST00000493531.1_5'UTR	NM_001080453.2	NP_001073922.2	Q8N201	INT1_HUMAN	integrator complex subunit 1	228					inner cell mass cell proliferation (GO:0001833)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|snRNA processing (GO:0016180)|U2 snRNA 3'-end processing (GO:0034474)	integral component of membrane (GO:0016021)|integrator complex (GO:0032039)|membrane (GO:0016020)		p.K356M(1)		autonomic_ganglia(1)|cervix(1)|endometrium(14)|kidney(3)|large_intestine(7)|lung(24)|ovary(1)|prostate(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	62		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0181)|OV - Ovarian serous cystadenocarcinoma(56;6.99e-15)		GACGCTCACCTTGACAAAGAT	0.607																																						uc003skn.2																			1	Substitution - Missense(1)		lung(1)		0						c.(682-684)AAG>ATG		integrator complex subunit 1							47.0	52.0	50.0					7																	1539521		2119	4223	6342	SO:0001630	splice_region_variant	26173				snRNA processing	integral to membrane|integrator complex|nuclear membrane		g.chr7:1539521T>A	AB037861	CCDS47526.1	7p22.3	2009-11-06			ENSG00000164880	ENSG00000164880			24555	protein-coding gene	gene with protein product		611345				16239144	Standard	NM_001080453		Approved	DKFZp586J0619, KIAA1440, INT1, NET28	uc003skn.2	Q8N201	OTTHUMG00000151449	ENST00000404767.3:c.684+1A>T	7.37:g.1539521T>A						INTS1_uc003skq.2_Missense_Mutation_p.K228M	p.K228M	NM_001080453	NP_001073922	Q8N201	INT1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0181)|OV - Ovarian serous cystadenocarcinoma(56;6.99e-15)	5	784	-		Ovarian(82;0.0253)	228					A6NJ44|Q6NT70|Q6UX74|Q8WV40|Q96D36|Q9NTD1|Q9P2A8|Q9Y3W8	Missense_Mutation	SNP	ENST00000404767.3	37	c.683A>T	CCDS47526.1	.	.	.	.	.	.	.	.	.	.	T	20.7	4.029308	0.75504	.	.	ENSG00000164880	ENST00000404767;ENST00000389470	T;T	0.53857	0.6;0.62	4.15	2.97	0.34412	.	0.106321	0.64402	D	0.000006	T	0.66489	0.2794	M	0.65975	2.015	0.58432	D	0.999997	D;D	0.76494	0.999;0.999	D;D	0.68621	0.959;0.94	T	0.67692	-0.5605	10	0.87932	D	0	.	10.682	0.45819	0.0:0.0:0.1609:0.8391	.	356;228	A4D212;Q8N201	.;INT1_HUMAN	M	228;356	ENSP00000385722:K228M;ENSP00000374121:K356M	ENSP00000374121:K356M	K	-	2	0	INTS1	1506047	1.000000	0.71417	0.989000	0.46669	0.853000	0.48598	7.687000	0.84139	0.632000	0.30432	0.533000	0.62120	AAG		PASS	0.607	INTS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323683.1		Missense_Mutation	4	16	4	16	---	---	---	---
INTS1	26173	broad.mit.edu	37	7	1539889	1539889	+	Missense_Mutation	SNP	T	T	G			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr7:1539889T>G	ENST00000404767.3	-	4	548	c.463A>C	c.(463-465)Aag>Cag	p.K155Q	INTS1_ENST00000389470.4_Missense_Mutation_p.K283Q|INTS1_ENST00000493531.1_5'UTR	NM_001080453.2	NP_001073922.2	Q8N201	INT1_HUMAN	integrator complex subunit 1	155					inner cell mass cell proliferation (GO:0001833)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|snRNA processing (GO:0016180)|U2 snRNA 3'-end processing (GO:0034474)	integral component of membrane (GO:0016021)|integrator complex (GO:0032039)|membrane (GO:0016020)		p.K283Q(1)		autonomic_ganglia(1)|cervix(1)|endometrium(14)|kidney(3)|large_intestine(7)|lung(24)|ovary(1)|prostate(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	62		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0181)|OV - Ovarian serous cystadenocarcinoma(56;6.99e-15)		CTGTCAGGCTTGGCGCGGGTG	0.632																																						uc003skn.2																			1	Substitution - Missense(1)		lung(1)		0						c.(463-465)AAG>CAG		integrator complex subunit 1							57.0	65.0	62.0					7																	1539889		2176	4261	6437	SO:0001583	missense	26173				snRNA processing	integral to membrane|integrator complex|nuclear membrane		g.chr7:1539889T>G	AB037861	CCDS47526.1	7p22.3	2009-11-06			ENSG00000164880	ENSG00000164880			24555	protein-coding gene	gene with protein product		611345				16239144	Standard	NM_001080453		Approved	DKFZp586J0619, KIAA1440, INT1, NET28	uc003skn.2	Q8N201	OTTHUMG00000151449	ENST00000404767.3:c.463A>C	7.37:g.1539889T>G	ENSP00000385722:p.Lys155Gln					INTS1_uc003skq.2_Missense_Mutation_p.K155Q	p.K155Q	NM_001080453	NP_001073922	Q8N201	INT1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0181)|OV - Ovarian serous cystadenocarcinoma(56;6.99e-15)	4	564	-		Ovarian(82;0.0253)	155					A6NJ44|Q6NT70|Q6UX74|Q8WV40|Q96D36|Q9NTD1|Q9P2A8|Q9Y3W8	Missense_Mutation	SNP	ENST00000404767.3	37	c.463A>C	CCDS47526.1	.	.	.	.	.	.	.	.	.	.	T	22.1	4.245554	0.80024	.	.	ENSG00000164880	ENST00000404767;ENST00000389470	T;T	0.54675	0.56;0.58	4.65	4.65	0.58169	.	0.000000	0.85682	D	0.000000	T	0.69620	0.3131	M	0.68317	2.08	0.53005	D	0.999964	P;D	0.89917	0.875;1.0	P;D	0.79784	0.71;0.993	T	0.73610	-0.3928	10	0.72032	D	0.01	.	14.2236	0.65843	0.0:0.0:0.0:1.0	.	283;155	A4D212;Q8N201	.;INT1_HUMAN	Q	155;283	ENSP00000385722:K155Q;ENSP00000374121:K283Q	ENSP00000374121:K283Q	K	-	1	0	INTS1	1506415	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	5.856000	0.69518	1.955000	0.56771	0.523000	0.50628	AAG		PASS	0.632	INTS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323683.1			7	7	7	7	---	---	---	---
RBAK	57786	broad.mit.edu	37	7	5103661	5103661	+	Missense_Mutation	SNP	G	G	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr7:5103661G>A	ENST00000353796.3	+	6	898	c.574G>A	c.(574-576)Gaa>Aaa	p.E192K	RBAK-RBAKDN_ENST00000396904.2_Intron|RBAK_ENST00000396912.1_Missense_Mutation_p.E192K|RBAK-RBAKDN_ENST00000407184.1_Intron	NM_001204456.1	NP_001191385.1	Q9NYW8	RBAK_HUMAN	RB-associated KRAB zinc finger	192	Required for interaction with RB1.				negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)	p.E192K(1)		NS(1)|kidney(1)|large_intestine(2)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)	10		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0916)|OV - Ovarian serous cystadenocarcinoma(56;2.44e-14)		TCACAATGAAGAAAATATTCT	0.328																																						uc010kss.1																			1	Substitution - Missense(1)		lung(1)	ovary(3)|kidney(1)|skin(1)	5						c.(574-576)GAA>AAA		RB-associated KRAB repressor							39.0	42.0	41.0					7																	5103661		2202	4298	6500	SO:0001583	missense	57786				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding	g.chr7:5103661G>A	AF226869	CCDS5337.1	7p22.1	2013-01-08			ENSG00000146587	ENSG00000146587		"""Zinc fingers, C2H2-type"", ""-"""	17680	protein-coding gene	gene with protein product		608191					Standard	NM_021163		Approved	ZNF769	uc003sns.1	Q9NYW8	OTTHUMG00000121155	ENST00000353796.3:c.574G>A	7.37:g.5103661G>A	ENSP00000275423:p.Glu192Lys					LOC389458_uc003snr.2_Intron|RBAK_uc003sns.1_Missense_Mutation_p.E192K	p.E192K	NM_021163	NP_066986	Q9NYW8	RBAK_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.0916)|OV - Ovarian serous cystadenocarcinoma(56;2.44e-14)	6	898	+		Ovarian(82;0.0175)	192			Required for interaction with RB1.		A6NDF2|A8KAK4|B2RN44|B9EGS1|F8W6M7	Missense_Mutation	SNP	ENST00000353796.3	37	c.574G>A	CCDS5337.1	.	.	.	.	.	.	.	.	.	.	G	4.216	0.038915	0.08148	.	.	ENSG00000146587	ENST00000353796;ENST00000396912	T;T	0.06687	3.27;3.27	3.76	3.76	0.43208	.	0.000000	0.49305	D	0.000151	T	0.06735	0.0172	L	0.35341	1.055	0.30063	N	0.810762	P	0.43750	0.816	B	0.36464	0.225	T	0.34775	-0.9815	8	.	.	.	.	13.8561	0.63527	0.0:0.0:1.0:0.0	.	192	Q9NYW8	RBAK_HUMAN	K	192	ENSP00000275423:E192K;ENSP00000380120:E192K	.	E	+	1	0	RBAK	5070187	0.684000	0.27642	0.128000	0.21923	0.251000	0.25915	1.141000	0.31528	2.386000	0.81285	0.555000	0.69702	GAA		PASS	0.328	RBAK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241640.2	NM_021163		45	39	45	39	---	---	---	---
RNF216	54476	broad.mit.edu	37	7	5754762	5754762	+	Silent	SNP	C	C	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr7:5754762C>A	ENST00000425013.2	-	11	1808	c.1584G>T	c.(1582-1584)acG>acT	p.T528T	RNF216_ENST00000389902.3_Silent_p.T585T	NM_207111.3|NM_207116.2	NP_996994.1|NP_996999.1	Q9NWF9	RN216_HUMAN	ring finger protein 216	528					apoptotic process (GO:0006915)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein K48-linked ubiquitination (GO:0070936)|regulation of defense response to virus by host (GO:0050691)|regulation of interferon-beta production (GO:0032648)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)	p.T585T(1)	FBXL18/RNF216(2)	breast(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(11)|ovary(3)|prostate(1)|skin(1)|urinary_tract(4)	33		Ovarian(82;0.07)		UCEC - Uterine corpus endometrioid carcinoma (126;0.135)|OV - Ovarian serous cystadenocarcinoma(56;2.69e-13)		CTGCGCACTGCGTCAGCTCCT	0.488																																						uc003soy.1																			1	Substitution - coding silent(1)		lung(1)	ovary(3)|breast(2)	5						c.(1582-1584)ACG>ACT		ring finger protein 216 isoform b							221.0	203.0	209.0					7																	5754762		2203	4300	6503	SO:0001819	synonymous_variant	54476				apoptosis|interspecies interaction between organisms|proteasomal ubiquitin-dependent protein catabolic process|protein K48-linked ubiquitination|regulation of defense response to virus by host|regulation of interferon-beta production	cytoplasm|nucleus|nucleus	ligase activity|protein binding|protein binding|zinc ion binding	g.chr7:5754762C>A	AY062174	CCDS34594.1, CCDS34595.1	7p22.1	2014-02-12	2007-08-20		ENSG00000011275	ENSG00000011275		"""RING-type (C3HC4) zinc fingers"""	21698	protein-coding gene	gene with protein product		609948					Standard	NM_207111		Approved	TRIAD3, UBCE7IP1, ZIN	uc003sox.2	Q9NWF9	OTTHUMG00000155500	ENST00000425013.2:c.1584G>T	7.37:g.5754762C>A						RNF216_uc010ksz.1_Silent_p.T150T|RNF216_uc010kta.1_Silent_p.T150T|RNF216_uc011jwj.1_Silent_p.T150T|RNF216_uc003sox.1_Silent_p.T585T	p.T528T	NM_207116	NP_996999	Q9NWF9	RN216_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.135)|OV - Ovarian serous cystadenocarcinoma(56;2.69e-13)	11	1774	-		Ovarian(82;0.07)	528			RING-type 1.		Q6Y691|Q75ML7|Q7Z2H7|Q7Z7C1|Q8NHW7|Q9NYT1	Silent	SNP	ENST00000425013.2	37	c.1584G>T	CCDS34595.1																																																																																				PASS	0.488	RNF216-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000340374.1	NM_207111		141	215	141	215	---	---	---	---
ZDHHC4	55146	broad.mit.edu	37	7	6624666	6624666	+	Silent	SNP	G	G	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr7:6624666G>T	ENST00000396706.2	+	7	959	c.516G>T	c.(514-516)gtG>gtT	p.V172V	ZDHHC4_ENST00000405731.3_Silent_p.V172V|ZDHHC4_ENST00000335965.6_Silent_p.V172V|ZDHHC4_ENST00000396709.1_Silent_p.V172V|ZDHHC4_ENST00000396713.2_Silent_p.V172V|AC079742.4_ENST00000434951.1_RNA|ZDHHC4_ENST00000396707.2_Silent_p.V172V			Q9NPG8	ZDHC4_HUMAN	zinc finger, DHHC-type containing 4	172						Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	protein-cysteine S-palmitoyltransferase activity (GO:0019706)|zinc ion binding (GO:0008270)	p.V172V(2)		breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19		Ovarian(82;0.232)		UCEC - Uterine corpus endometrioid carcinoma (126;0.1)		ACTGGTGTGTGCACCGTTTCG	0.537																																						uc003sqi.2																			2	Substitution - coding silent(2)		large_intestine(1)|lung(1)	breast(1)|pancreas(1)	2						c.(514-516)GTG>GTT		zinc finger, DHHC-type containing 4							167.0	105.0	126.0					7																	6624666		2203	4300	6503	SO:0001819	synonymous_variant	55146					integral to membrane	acyltransferase activity|zinc ion binding	g.chr7:6624666G>T	AF201931	CCDS5352.1	7p22.1	2011-01-11			ENSG00000136247	ENSG00000136247		"""Zinc fingers, DHHC-type"""	18471	protein-coding gene	gene with protein product							Standard	NM_018106		Approved	FLJ10479, ZNF374	uc003sqj.3	Q9NPG8	OTTHUMG00000023579	ENST00000396706.2:c.516G>T	7.37:g.6624666G>T						ZDHHC4_uc003sql.2_Silent_p.V172V|ZDHHC4_uc003sqh.2_Silent_p.V172V|ZDHHC4_uc003sqj.2_Silent_p.V172V|ZDHHC4_uc003sqk.2_Silent_p.V172V|ZDHHC4_uc003sqm.2_Silent_p.V172V	p.V172V	NM_001134388	NP_001127860	Q9NPG8	ZDHC4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.1)	8	874	+		Ovarian(82;0.232)	172			DHHC-type.		A4D2N9|Q53EV7|Q6FIB5|Q9H0R9	Silent	SNP	ENST00000396706.2	37	c.516G>T	CCDS5352.1																																																																																				PASS	0.537	ZDHHC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207477.3	NM_018106		12	54	12	54	---	---	---	---
COL28A1	340267	broad.mit.edu	37	7	7571510	7571510	+	Silent	SNP	G	G	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr7:7571510G>A	ENST00000399429.3	-	3	290	c.150C>T	c.(148-150)gtC>gtT	p.V50V		NM_001037763.2	NP_001032852.2	Q2UY09	COSA1_HUMAN	collagen, type XXVIII, alpha 1	50	VWFA 1. {ECO:0000255|PROSITE- ProRule:PRU00219}.				cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)	basement membrane (GO:0005604)|collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	serine-type endopeptidase inhibitor activity (GO:0004867)	p.V50V(2)		cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(23)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	42		Ovarian(82;0.0789)		UCEC - Uterine corpus endometrioid carcinoma (126;0.228)		CCACGATGAAGACAATATCTA	0.358																																						uc003src.1																			2	Substitution - coding silent(2)		lung(2)	skin(3)	3						c.(148-150)GTC>GTT		collagen, type XXVIII precursor							48.0	47.0	47.0					7																	7571510		1858	4085	5943	SO:0001819	synonymous_variant	340267				cell adhesion	basement membrane|collagen	serine-type endopeptidase inhibitor activity	g.chr7:7571510G>A	AJ890451	CCDS43553.1	7p21.3	2013-01-16			ENSG00000215018	ENSG00000215018		"""Collagens"""	22442	protein-coding gene	gene with protein product		609996				16330543	Standard	NM_001037763		Approved		uc003src.1	Q2UY09	OTTHUMG00000150034	ENST00000399429.3:c.150C>T	7.37:g.7571510G>A						COL28A1_uc011jxe.1_5'UTR	p.V50V	NM_001037763	NP_001032852	Q2UY09	COSA1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.228)	3	267	-		Ovarian(82;0.0789)	50			VWFA 1.		A4D101|A4D106|A4D107|A8MVR2|B9EGX9|Q2UY07|Q2UY08	Silent	SNP	ENST00000399429.3	37	c.150C>T	CCDS43553.1																																																																																				PASS	0.358	COL28A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315899.1	NM_001037763		14	75	14	75	---	---	---	---
DGKB	1607	broad.mit.edu	37	7	14622750	14622750	+	Missense_Mutation	SNP	G	G	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr7:14622750G>T	ENST00000403951.2	-	18	1868	c.1449C>A	c.(1447-1449)ttC>ttA	p.F483L	DGKB_ENST00000399322.3_Missense_Mutation_p.F483L|DGKB_ENST00000406247.3_Missense_Mutation_p.F483L|DGKB_ENST00000407950.1_Missense_Mutation_p.F475L|DGKB_ENST00000403963.1_5'UTR|DGKB_ENST00000402815.1_Missense_Mutation_p.F482L|DGKB_ENST00000258767.5_Missense_Mutation_p.F483L|DGKB_ENST00000444700.2_Missense_Mutation_p.F464L			Q9Y6T7	DGKB_HUMAN	diacylglycerol kinase, beta 90kDa	483	DAGKc. {ECO:0000255|PROSITE- ProRule:PRU00783}.				blood coagulation (GO:0007596)|intracellular signal transduction (GO:0035556)|platelet activation (GO:0030168)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|diacylglycerol kinase activity (GO:0004143)|NAD+ kinase activity (GO:0003951)	p.F483L(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(34)|ovary(4)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	72						GAACATCACGGAAAAAGTTTA	0.368																																						uc003ssz.2																			1	Substitution - Missense(1)		lung(1)	lung(5)|ovary(4)|breast(2)|skin(1)	12						c.(1447-1449)TTC>TTA		diacylglycerol kinase, beta isoform 1	Phosphatidylserine(DB00144)						66.0	65.0	65.0					7																	14622750		1969	4182	6151	SO:0001583	missense	1607				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	cytoplasm|plasma membrane	ATP binding|calcium ion binding|diacylglycerol kinase activity|protein binding	g.chr7:14622750G>T	AB018261	CCDS47547.1, CCDS47548.1	7p21.2	2013-01-10	2002-08-29		ENSG00000136267	ENSG00000136267	2.7.1.107	"""EF-hand domain containing"""	2850	protein-coding gene	gene with protein product		604070	"""diacylglycerol kinase, beta (90kD)"""	DAGK2		7689223	Standard	NM_004080		Approved	KIAA0718, DGK, DGK-BETA	uc003ssz.3	Q9Y6T7	OTTHUMG00000152477	ENST00000403951.2:c.1449C>A	7.37:g.14622750G>T	ENSP00000385780:p.Phe483Leu					DGKB_uc011jxt.1_Missense_Mutation_p.F464L|DGKB_uc003sta.2_Missense_Mutation_p.F483L|DGKB_uc011jxu.1_Missense_Mutation_p.F482L	p.F483L	NM_004080	NP_004071	Q9Y6T7	DGKB_HUMAN			17	1636	-			483			DAGKc.		A4D116|A4D117|A8MXU2|O75241|Q2M377|Q75MF9|Q75MU7|Q86UI5|Q86UM9|Q9UQ29	Missense_Mutation	SNP	ENST00000403951.2	37	c.1449C>A	CCDS47547.1	.	.	.	.	.	.	.	.	.	.	G	18.83	3.707397	0.68615	.	.	ENSG00000136267	ENST00000403951;ENST00000399322;ENST00000258767;ENST00000402815;ENST00000407950;ENST00000444700;ENST00000406247	T;T;T;T;T;T;T	0.20598	2.06;2.06;2.06;2.06;2.06;2.06;2.06	5.35	1.55	0.23275	Diacylglycerol kinase, catalytic domain (3);	0.118609	0.56097	D	0.000025	T	0.35480	0.0933	L	0.58428	1.81	0.49389	D	0.99978	D;D;D;D	0.67145	0.971;0.996;0.985;0.982	P;D;D;P	0.67725	0.868;0.953;0.926;0.779	T	0.02484	-1.1152	10	0.59425	D	0.04	.	8.64	0.33972	0.4538:0.0:0.5462:0.0	.	482;464;483;483	B7ZL83;C9JTC0;Q9Y6T7-2;Q9Y6T7	.;.;.;DGKB_HUMAN	L	483;483;483;482;475;464;483	ENSP00000385780:F483L;ENSP00000382260:F483L;ENSP00000258767:F483L;ENSP00000384909:F482L;ENSP00000385031:F475L;ENSP00000388451:F464L;ENSP00000386066:F483L	ENSP00000258767:F483L	F	-	3	2	DGKB	14589275	1.000000	0.71417	0.996000	0.52242	0.930000	0.56654	1.392000	0.34486	0.007000	0.14760	-0.218000	0.12543	TTC		PASS	0.368	DGKB-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000326356.2	NM_004080		16	31	16	31	---	---	---	---
AGMO	392636	broad.mit.edu	37	7	15458244	15458245	+	Missense_Mutation	DNP	GG	GG	TT			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr7:15458244_15458245GG>TT	ENST00000342526.3	-	5	716_717	c.547_548CC>AA	c.(547-549)CCt>AAt	p.P183N		NM_001004320.1	NP_001004320.1	Q6ZNB7	ALKMO_HUMAN	alkylglycerol monooxygenase	183					ether lipid metabolic process (GO:0046485)|fatty acid biosynthetic process (GO:0006633)|membrane lipid metabolic process (GO:0006643)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	glyceryl-ether monooxygenase activity (GO:0050479)|iron ion binding (GO:0005506)	p.P183T(1)|p.P183H(1)|p.P183N(1)|p.P183L(1)		breast(1)|kidney(1)|large_intestine(6)|liver(1)|lung(30)|prostate(1)|skin(2)	42						ATATACTGAAGGGGGTATGAAG	0.297																																						uc003stb.1																			4	Substitution - Missense(4)		lung(4)		0						c.(547-549)CCT>CAT|c.(547-549)CCT>ACT		transmembrane protein 195																																				SO:0001583	missense	392636				ether lipid metabolic process|fatty acid biosynthetic process|membrane lipid metabolic process	endoplasmic reticulum membrane|integral to membrane	glyceryl-ether monooxygenase activity|iron ion binding	g.chr7:15458244G>T|g.chr7:15458245G>T		CCDS34604.1	7p21.1	2013-03-04	2011-01-31	2011-01-31	ENSG00000187546	ENSG00000187546	1.14.16.5	"""Fatty acid hydroxylase domain containing"""	33784	protein-coding gene	gene with protein product		613738	"""transmembrane protein 195"""	TMEM195		20643956	Standard	NM_001004320		Approved	FLJ16237	uc003stb.1	Q6ZNB7	OTTHUMG00000152387	ENST00000342526.3:c.547_548delinsTT	7.37:g.15458244_15458245delinsTT	ENSP00000341662:p.Pro183Asn						p.P183H|p.P183T	NM_001004320	NP_001004320	Q6ZNB7	ALKMO_HUMAN			5	718|717	-			183					A4D114|A6NCH5	Missense_Mutation	SNP	ENST00000342526.3	37	c.548C>A|c.547C>A	CCDS34604.1																																																																																				PASS	0.297	AGMO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326049.2	NM_001004320		16	45|44	16	44	---	---	---	---
BZW2	28969	broad.mit.edu	37	7	16705107	16705107	+	Silent	SNP	G	G	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr7:16705107G>T	ENST00000433922.2	+	2	217	c.39G>T	c.(37-39)cgG>cgT	p.R13R	BZW2_ENST00000258761.3_Silent_p.R13R|BZW2_ENST00000405202.1_Intron|BZW2_ENST00000452975.2_Silent_p.R13R|BZW2_ENST00000432311.1_3'UTR	NM_001159767.1	NP_001153239.1	Q9Y6E2	BZW2_HUMAN	basic leucine zipper and W2 domains 2	13					cell differentiation (GO:0030154)|nervous system development (GO:0007399)	membrane (GO:0016020)		p.R13R(1)		cervix(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(2)|ovary(2)|skin(1)|urinary_tract(1)	15	Lung NSC(10;0.0367)|all_lung(11;0.0837)			UCEC - Uterine corpus endometrioid carcinoma (126;0.199)		CAGGCCAGCGGTTCAAAACTC	0.353																																						uc003stl.2																			1	Substitution - coding silent(1)		lung(1)	ovary(2)	2						c.(37-39)CGG>CGT		basic leucine zipper and W2 domains 2							60.0	62.0	62.0					7																	16705107		2203	4300	6503	SO:0001819	synonymous_variant	28969				cell differentiation|nervous system development|RNA metabolic process		protein binding	g.chr7:16705107G>T	AF083246	CCDS5362.1	7p21.3	2008-07-18			ENSG00000136261	ENSG00000136261			18808	protein-coding gene	gene with protein product						11042152	Standard	NM_001159767		Approved	HSPC028, MST017, MSTP017	uc003stj.2	Q9Y6E2	OTTHUMG00000130755	ENST00000433922.2:c.39G>T	7.37:g.16705107G>T						BZW2_uc011jxx.1_5'UTR|BZW2_uc003stm.2_5'UTR|BZW2_uc003stj.2_Silent_p.R13R|BZW2_uc003stk.2_Intron|BZW2_uc003stn.1_Silent_p.R13R|BZW2_uc003sto.1_5'UTR|BZW2_uc003stp.2_5'UTR|BZW2_uc010kua.2_Silent_p.R13R	p.R13R	NM_001159767	NP_001153239	Q9Y6E2	BZW2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.199)	2	217	+	Lung NSC(10;0.0367)|all_lung(11;0.0837)		13					A4D123|Q3B779|Q96JW5|Q9H3F7	Silent	SNP	ENST00000433922.2	37	c.39G>T	CCDS5362.1																																																																																				PASS	0.353	BZW2-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000253256.2	NM_014038		28	53	28	53	---	---	---	---
HDAC9	9734	broad.mit.edu	37	7	18914114	18914114	+	Missense_Mutation	SNP	C	C	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr7:18914114C>A	ENST00000432645.2	+	21	2689	c.2689C>A	c.(2689-2691)Cct>Act	p.P897T	HDAC9_ENST00000441542.2_Missense_Mutation_p.P900T|HDAC9_ENST00000401921.1_Missense_Mutation_p.P856T|HDAC9_ENST00000406451.4_Missense_Mutation_p.P897T	NM_058176.2	NP_478056.1	Q9UKV0	HDAC9_HUMAN	histone deacetylase 9	897	Histone deacetylase.				B cell activation (GO:0042113)|B cell differentiation (GO:0030183)|cellular response to insulin stimulus (GO:0032869)|heart development (GO:0007507)|histone deacetylation (GO:0016575)|histone H3 deacetylation (GO:0070932)|histone H4 deacetylation (GO:0070933)|inflammatory response (GO:0006954)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling pathway (GO:0007219)|peptidyl-lysine deacetylation (GO:0034983)|positive regulation of cell migration involved in sprouting angiogenesis (GO:0090050)|regulation of skeletal muscle fiber development (GO:0048742)|regulation of striated muscle cell differentiation (GO:0051153)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|histone deacetylase complex (GO:0000118)|histone methyltransferase complex (GO:0035097)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	histone deacetylase activity (GO:0004407)|histone deacetylase binding (GO:0042826)|metal ion binding (GO:0046872)|NAD-dependent histone deacetylase activity (H3-K14 specific) (GO:0032041)|NAD-dependent histone deacetylase activity (H3-K18 specific) (GO:0097372)|NAD-dependent histone deacetylase activity (H3-K9 specific) (GO:0046969)|NAD-dependent histone deacetylase activity (H4-K16 specific) (GO:0046970)|protein deacetylase activity (GO:0033558)|protein kinase C binding (GO:0005080)|repressing transcription factor binding (GO:0070491)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)	p.P900T(2)		breast(3)|central_nervous_system(4)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|liver(2)|lung(37)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	82	all_lung(11;0.187)				Valproic Acid(DB00313)	CATCGTGAAGCCTGTGGCCAA	0.483																																						uc003suh.2																			2	Substitution - Missense(2)		lung(2)	lung(2)|central_nervous_system(2)|kidney(1)	5						c.(2689-2691)CCT>ACT		histone deacetylase 9 isoform 1	Valproic Acid(DB00313)						87.0	83.0	85.0					7																	18914114		1924	4143	6067	SO:0001583	missense	9734				B cell differentiation|cellular response to insulin stimulus|heart development|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|peptidyl-lysine deacetylation|positive regulation of cell migration involved in sprouting angiogenesis|regulation of skeletal muscle fiber development|transcription, DNA-dependent	cytoplasm|histone deacetylase complex|histone methyltransferase complex|transcription factor complex	histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|histone deacetylase binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|protein binding|protein kinase C binding|repressing transcription factor binding|transcription corepressor activity	g.chr7:18914114C>A	AF124924	CCDS47553.1, CCDS47554.1, CCDS47555.1, CCDS47557.1, CCDS56465.1, CCDS56466.1, CCDS56467.1, CCDS56468.1, CCDS75565.1	7p21.1	2008-05-15			ENSG00000048052	ENSG00000048052			14065	protein-coding gene	gene with protein product		606543				10523670, 10487760	Standard	NM_178425		Approved	KIAA0744, HDAC, MITR, HD7, HDAC7B	uc003sui.3	Q9UKV0	OTTHUMG00000152487	ENST00000432645.2:c.2689C>A	7.37:g.18914114C>A	ENSP00000410337:p.Pro897Thr					HDAC9_uc003sue.2_Missense_Mutation_p.P897T|HDAC9_uc003sui.2_Missense_Mutation_p.P900T|HDAC9_uc003suj.2_Missense_Mutation_p.P856T|HDAC9_uc003suk.2_Missense_Mutation_p.P145T	p.P897T	NM_058176	NP_478056	Q9UKV0	HDAC9_HUMAN			21	2730	+	all_lung(11;0.187)		897			Histone deacetylase.		A7E2F3|B7Z4I4|B7Z917|B7Z928|B7Z940|C9JS87|E7EX34|F8W9E0|O94845|O95028|Q2M2R6|Q86SL1|Q86US3	Missense_Mutation	SNP	ENST00000432645.2	37	c.2689C>A	CCDS47555.1	.	.	.	.	.	.	.	.	.	.	C	22.5	4.292984	0.80914	.	.	ENSG00000048052	ENST00000406451;ENST00000401921;ENST00000432645;ENST00000441542;ENST00000341009	T;T;T;T	0.72505	-0.66;-0.66;-0.66;-0.66	5.53	5.53	0.82687	Histone deacetylase domain (2);	0.000000	0.64402	D	0.000019	D	0.91068	0.7189	H	0.98682	4.3	0.80722	D	1	D;D;D;D;D	0.89917	1.0;0.993;0.993;0.994;0.993	D;P;P;P;P	0.97110	1.0;0.823;0.823;0.889;0.823	D	0.94275	0.7514	10	0.87932	D	0	-10.3563	19.4531	0.94876	0.0:1.0:0.0:0.0	.	145;856;900;897;897	Q8N926;Q9UKV0-6;Q9UKV0-7;Q9UKV0;Q9UKV0-5	.;.;.;HDAC9_HUMAN;.	T	897;856;897;900;809	ENSP00000384657:P897T;ENSP00000383912:P856T;ENSP00000410337:P897T;ENSP00000408617:P900T	ENSP00000339165:P809T	P	+	1	0	HDAC9	18880639	1.000000	0.71417	0.997000	0.53966	0.988000	0.76386	7.445000	0.80570	2.600000	0.87896	0.591000	0.81541	CCT		PASS	0.483	HDAC9-023	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000376176.1			5	17	5	17	---	---	---	---
DNAH11	8701	broad.mit.edu	37	7	21639426	21639426	+	Missense_Mutation	SNP	G	G	C			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr7:21639426G>C	ENST00000409508.3	+	15	2720	c.2689G>C	c.(2689-2691)Gcc>Ccc	p.A897P	DNAH11_ENST00000328843.6_Missense_Mutation_p.A897P	NM_001277115.1	NP_001264044.1	Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	897	Stem. {ECO:0000250}.				microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.A897P(1)		NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						GCTCTTCAAAGCCAATCCCTC	0.338									Kartagener syndrome																													uc003svc.2																			1	Substitution - Missense(1)		lung(1)	ovary(8)|large_intestine(3)|pancreas(3)|central_nervous_system(1)	15						c.(2689-2691)GCC>CCC		dynein, axonemal, heavy chain 11							50.0	46.0	47.0					7																	21639426		1823	4080	5903	SO:0001583	missense	8701	Kartagener_syndrome	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr7:21639426G>C	U83569	CCDS64602.1	7p21	2008-07-18	2006-09-04					"""Axonemal dyneins"""	2942	protein-coding gene	gene with protein product	"""dynein, ciliary, heavy chain 11"", ""dynein, heavy chain beta-like"""	603339	"""dynein, axonemal, heavy polypeptide 11"""			9256245	Standard	NM_001277115		Approved	Dnahc11, DPL11, CILD7, DNAHC11, DNAHBL, DNHBL	uc031swp.1	Q96DT5		ENST00000409508.3:c.2689G>C	7.37:g.21639426G>C	ENSP00000475939:p.Ala897Pro						p.A897P	NM_003777	NP_003768	Q96DT5	DYH11_HUMAN			15	2720	+			897			Stem (By similarity).		Q9UJ82	Missense_Mutation	SNP	ENST00000409508.3	37	c.2689G>C		.	.	.	.	.	.	.	.	.	.	G	21.4	4.148584	0.78001	.	.	ENSG00000105877	ENST00000328843	T	0.25085	1.82	5.58	4.69	0.59074	.	0.140153	0.46758	D	0.000277	T	0.43366	0.1244	.	.	.	0.47183	D	0.999348	D	0.76494	0.999	D	0.64687	0.928	T	0.06250	-1.0837	9	0.30854	T	0.27	.	13.1771	0.59633	0.0785:0.0:0.9215:0.0	.	897	Q96DT5	DYH11_HUMAN	P	897	ENSP00000330671:A897P	ENSP00000330671:A897P	A	+	1	0	DNAH11	21605951	1.000000	0.71417	0.990000	0.47175	0.842000	0.47809	6.901000	0.75693	2.797000	0.96272	0.561000	0.74099	GCC		PASS	0.338	DNAH11-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000326582.6	NM_003777		16	16	16	16	---	---	---	---
GPNMB	10457	broad.mit.edu	37	7	23309634	23309634	+	Missense_Mutation	SNP	C	C	G			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr7:23309634C>G	ENST00000381990.2	+	9	1466	c.1305C>G	c.(1303-1305)atC>atG	p.I435M	GPNMB_ENST00000453162.2_Missense_Mutation_p.I377M|GPNMB_ENST00000258733.4_Missense_Mutation_p.I423M|GPNMB_ENST00000539136.1_Missense_Mutation_p.I324M	NM_001005340.1|NM_002510.2	NP_001005340.1|NP_002501.1	Q14956	GPNMB_HUMAN	glycoprotein (transmembrane) nmb	435					bone mineralization (GO:0030282)|cell adhesion (GO:0007155)|negative regulation of cell proliferation (GO:0008285)|osteoblast differentiation (GO:0001649)	cytoplasmic membrane-bounded vesicle (GO:0016023)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	heparin binding (GO:0008201)	p.I435M(1)		breast(5)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|liver(2)|lung(17)|ovary(3)|stomach(2)	41			GBM - Glioblastoma multiforme(13;0.154)			CCTGCGAGATCACCCAGAACA	0.577																																						uc003swc.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|breast(2)	5						c.(1303-1305)ATC>ATG		glycoprotein (transmembrane) nmb isoform a							184.0	154.0	164.0					7																	23309634		2203	4300	6503	SO:0001583	missense	10457				negative regulation of cell proliferation	melanosome		g.chr7:23309634C>G	X76534	CCDS5380.1, CCDS34610.1	7p	2008-07-18			ENSG00000136235	ENSG00000136235			4462	protein-coding gene	gene with protein product	"""transmembrane glycoprotein"", ""glycoprotein NMB"", ""glycoprotein nmb-like protein"", ""osteoactivin"""	604368				7814155	Standard	NM_002510		Approved	NMB, HGFIN	uc003swc.3	Q14956	OTTHUMG00000022811	ENST00000381990.2:c.1305C>G	7.37:g.23309634C>G	ENSP00000371420:p.Ile435Met					GPNMB_uc003swb.2_Missense_Mutation_p.I423M|GPNMB_uc011jyy.1_Missense_Mutation_p.I377M|GPNMB_uc011jyz.1_Missense_Mutation_p.I324M	p.I435M	NM_001005340	NP_001005340	Q14956	GPNMB_HUMAN	GBM - Glioblastoma multiforme(13;0.154)		9	1466	+			435			Extracellular (Potential).		A4D155|Q6UVX1|Q8N1A1	Missense_Mutation	SNP	ENST00000381990.2	37	c.1305C>G	CCDS34610.1	.	.	.	.	.	.	.	.	.	.	C	11.52	1.663194	0.29515	.	.	ENSG00000136235	ENST00000258733;ENST00000435486;ENST00000381990;ENST00000425903;ENST00000539136;ENST00000453162	T;T;T;T	0.14266	2.53;2.54;2.52;2.55	6.03	-6.6	0.01824	.	1.660170	0.02889	N	0.133877	T	0.13200	0.0320	M	0.69823	2.125	0.09310	N	1	B;B;B;B	0.21688	0.009;0.026;0.059;0.033	B;B;B;B	0.17722	0.008;0.019;0.008;0.015	T	0.35375	-0.9791	10	0.45353	T	0.12	-0.672	1.7984	0.03066	0.1808:0.1238:0.2953:0.4002	.	324;377;435;423	F6SKP1;F5GY20;Q14956;Q14956-2	.;.;GPNMB_HUMAN;.	M	423;470;435;318;324;377	ENSP00000258733:I423M;ENSP00000371420:I435M;ENSP00000445266:I324M;ENSP00000405586:I377M	ENSP00000258733:I423M	I	+	3	3	GPNMB	23276159	0.000000	0.05858	0.000000	0.03702	0.008000	0.06430	-1.702000	0.01901	-0.868000	0.04058	0.557000	0.71058	ATC		PASS	0.577	GPNMB-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000327152.1	NM_001005340		77	145	77	145	---	---	---	---
GPNMB	10457	broad.mit.edu	37	7	23309696	23309696	+	Missense_Mutation	SNP	G	G	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr7:23309696G>T	ENST00000381990.2	+	9	1528	c.1367G>T	c.(1366-1368)cGa>cTa	p.R456L	GPNMB_ENST00000453162.2_Missense_Mutation_p.R398L|GPNMB_ENST00000258733.4_Missense_Mutation_p.R444L|GPNMB_ENST00000539136.1_Missense_Mutation_p.R345L	NM_001005340.1|NM_002510.2	NP_001005340.1|NP_002501.1	Q14956	GPNMB_HUMAN	glycoprotein (transmembrane) nmb	456					bone mineralization (GO:0030282)|cell adhesion (GO:0007155)|negative regulation of cell proliferation (GO:0008285)|osteoblast differentiation (GO:0001649)	cytoplasmic membrane-bounded vesicle (GO:0016023)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	heparin binding (GO:0008201)	p.R456L(1)		breast(5)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|liver(2)|lung(17)|ovary(3)|stomach(2)	41			GBM - Glioblastoma multiforme(13;0.154)			ACTGTGAGACGAACCTTCAAT	0.547																																						uc003swc.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|breast(2)	5						c.(1366-1368)CGA>CTA		glycoprotein (transmembrane) nmb isoform a							196.0	147.0	164.0					7																	23309696		2203	4300	6503	SO:0001583	missense	10457				negative regulation of cell proliferation	melanosome		g.chr7:23309696G>T	X76534	CCDS5380.1, CCDS34610.1	7p	2008-07-18			ENSG00000136235	ENSG00000136235			4462	protein-coding gene	gene with protein product	"""transmembrane glycoprotein"", ""glycoprotein NMB"", ""glycoprotein nmb-like protein"", ""osteoactivin"""	604368				7814155	Standard	NM_002510		Approved	NMB, HGFIN	uc003swc.3	Q14956	OTTHUMG00000022811	ENST00000381990.2:c.1367G>T	7.37:g.23309696G>T	ENSP00000371420:p.Arg456Leu					GPNMB_uc003swb.2_Missense_Mutation_p.R444L|GPNMB_uc011jyy.1_Missense_Mutation_p.R398L|GPNMB_uc011jyz.1_Missense_Mutation_p.R345L	p.R456L	NM_001005340	NP_001005340	Q14956	GPNMB_HUMAN	GBM - Glioblastoma multiforme(13;0.154)		9	1528	+			456			Extracellular (Potential).		A4D155|Q6UVX1|Q8N1A1	Missense_Mutation	SNP	ENST00000381990.2	37	c.1367G>T	CCDS34610.1	.	.	.	.	.	.	.	.	.	.	G	19.28	3.797411	0.70567	.	.	ENSG00000136235	ENST00000258733;ENST00000435486;ENST00000381990;ENST00000425903;ENST00000539136;ENST00000453162	T;T;T;T	0.19394	2.16;2.15;2.17;2.15	6.03	6.03	0.97812	.	0.000000	0.85682	D	0.000000	T	0.54029	0.1833	M	0.82923	2.615	0.58432	D	0.999997	D;D;D;D	0.89917	1.0;1.0;1.0;0.998	D;D;D;D	0.97110	0.999;1.0;0.998;0.994	T	0.55036	-0.8203	10	0.72032	D	0.01	-24.6904	20.5752	0.99366	0.0:0.0:1.0:0.0	.	345;398;456;444	F6SKP1;F5GY20;Q14956;Q14956-2	.;.;GPNMB_HUMAN;.	L	444;491;456;339;345;398	ENSP00000258733:R444L;ENSP00000371420:R456L;ENSP00000445266:R345L;ENSP00000405586:R398L	ENSP00000258733:R444L	R	+	2	0	GPNMB	23276221	1.000000	0.71417	0.997000	0.53966	0.261000	0.26267	6.044000	0.71012	2.868000	0.98415	0.557000	0.71058	CGA		PASS	0.547	GPNMB-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000327152.1	NM_001005340		55	91	55	91	---	---	---	---
STK31	56164	broad.mit.edu	37	7	23792389	23792389	+	Missense_Mutation	SNP	G	G	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr7:23792389G>T	ENST00000355870.3	+	9	1190	c.1071G>T	c.(1069-1071)aaG>aaT	p.K357N	STK31_ENST00000428484.1_Missense_Mutation_p.K334N|STK31_ENST00000405627.3_3'UTR|STK31_ENST00000433467.2_Missense_Mutation_p.K357N|STK31_ENST00000354639.3_Missense_Mutation_p.K334N	NM_031414.4	NP_113602.2	Q9BXU1	STK31_HUMAN	serine/threonine kinase 31	357						acrosomal vesicle (GO:0001669)	ATP binding (GO:0005524)|hydrolase activity, acting on ester bonds (GO:0016788)|nucleic acid binding (GO:0003676)|protein serine/threonine kinase activity (GO:0004674)	p.K357N(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(31)|ovary(2)|prostate(1)|skin(7)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						ACACTCTGAAGACCTATATAG	0.358																																						uc003sws.3																			1	Substitution - Missense(1)		lung(1)	skin(3)|lung(2)|ovary(2)|stomach(2)	9						c.(1069-1071)AAG>AAT		serine/threonine kinase 31 isoform a							80.0	80.0	80.0					7																	23792389		2203	4300	6503	SO:0001583	missense	56164						ATP binding|nucleic acid binding|protein serine/threonine kinase activity	g.chr7:23792389G>T	AF285599	CCDS5386.1, CCDS43556.1, CCDS59049.1	7p15.3	2014-04-23			ENSG00000196335	ENSG00000196335		"""Tudor domain containing"""	11407	protein-coding gene	gene with protein product		605790				11279525	Standard	NM_031414		Approved	TDRD8, SgK396	uc003sws.5	Q9BXU1	OTTHUMG00000023053	ENST00000355870.3:c.1071G>T	7.37:g.23792389G>T	ENSP00000348132:p.Lys357Asn					STK31_uc003swt.3_Missense_Mutation_p.K334N|STK31_uc011jze.1_Missense_Mutation_p.K357N|STK31_uc010kuq.2_Missense_Mutation_p.K334N	p.K357N	NM_031414	NP_113602	Q9BXU1	STK31_HUMAN			9	1138	+			357					B4DZ06|B7WPP5|C9J4F9|Q6PCD3|Q9BXH8	Missense_Mutation	SNP	ENST00000355870.3	37	c.1071G>T	CCDS5386.1	.	.	.	.	.	.	.	.	.	.	G	6.716	0.500899	0.12822	.	.	ENSG00000196335	ENST00000355870;ENST00000433467;ENST00000354639;ENST00000428484	T;T;T;T	0.15017	2.46;2.46;2.46;2.46	4.94	0.876	0.19138	.	0.306471	0.33364	N	0.004982	T	0.10508	0.0257	L	0.54323	1.7	0.26121	N	0.980553	P;P	0.38922	0.651;0.651	B;B	0.27887	0.084;0.084	T	0.21965	-1.0230	10	0.56958	D	0.05	-11.9961	2.9095	0.05732	0.318:0.0:0.4836:0.1984	.	357;357	B4DZ06;Q9BXU1	.;STK31_HUMAN	N	357;357;334;334	ENSP00000348132:K357N;ENSP00000411852:K357N;ENSP00000346660:K334N;ENSP00000406146:K334N	ENSP00000346660:K334N	K	+	3	2	STK31	23758914	0.967000	0.33354	0.924000	0.36721	0.020000	0.10135	0.383000	0.20651	0.608000	0.30000	0.591000	0.81541	AAG		PASS	0.358	STK31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214036.2	NM_031414		23	92	23	92	---	---	---	---
STK31	56164	broad.mit.edu	37	7	23802424	23802424	+	Missense_Mutation	SNP	A	A	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr7:23802424A>T	ENST00000355870.3	+	11	1417	c.1298A>T	c.(1297-1299)gAa>gTa	p.E433V	STK31_ENST00000428484.1_Missense_Mutation_p.E410V|STK31_ENST00000405627.3_3'UTR|STK31_ENST00000433467.2_Missense_Mutation_p.E433V|STK31_ENST00000354639.3_Missense_Mutation_p.E410V	NM_031414.4	NP_113602.2	Q9BXU1	STK31_HUMAN	serine/threonine kinase 31	433						acrosomal vesicle (GO:0001669)	ATP binding (GO:0005524)|hydrolase activity, acting on ester bonds (GO:0016788)|nucleic acid binding (GO:0003676)|protein serine/threonine kinase activity (GO:0004674)	p.E433V(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(31)|ovary(2)|prostate(1)|skin(7)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						CTCCAGAGTGAAGGGAATATT	0.323																																						uc003sws.3																			1	Substitution - Missense(1)		lung(1)	skin(3)|lung(2)|ovary(2)|stomach(2)	9						c.(1297-1299)GAA>GTA		serine/threonine kinase 31 isoform a							98.0	99.0	99.0					7																	23802424		2203	4299	6502	SO:0001583	missense	56164						ATP binding|nucleic acid binding|protein serine/threonine kinase activity	g.chr7:23802424A>T	AF285599	CCDS5386.1, CCDS43556.1, CCDS59049.1	7p15.3	2014-04-23			ENSG00000196335	ENSG00000196335		"""Tudor domain containing"""	11407	protein-coding gene	gene with protein product		605790				11279525	Standard	NM_031414		Approved	TDRD8, SgK396	uc003sws.5	Q9BXU1	OTTHUMG00000023053	ENST00000355870.3:c.1298A>T	7.37:g.23802424A>T	ENSP00000348132:p.Glu433Val					STK31_uc003swt.3_Missense_Mutation_p.E410V|STK31_uc011jze.1_Missense_Mutation_p.E433V|STK31_uc010kuq.2_Missense_Mutation_p.E410V	p.E433V	NM_031414	NP_113602	Q9BXU1	STK31_HUMAN			11	1365	+			433					B4DZ06|B7WPP5|C9J4F9|Q6PCD3|Q9BXH8	Missense_Mutation	SNP	ENST00000355870.3	37	c.1298A>T	CCDS5386.1	.	.	.	.	.	.	.	.	.	.	A	20.6	4.011323	0.75046	.	.	ENSG00000196335	ENST00000355870;ENST00000433467;ENST00000354639;ENST00000428484	T;T;T;T	0.14640	2.49;2.49;2.49;2.49	5.24	5.24	0.73138	.	0.056236	0.64402	D	0.000001	T	0.34106	0.0886	M	0.66939	2.045	0.45733	D	0.998631	D;D	0.76494	0.999;0.999	D;D	0.66196	0.942;0.942	T	0.06991	-1.0796	10	0.87932	D	0	-18.305	14.4196	0.67175	1.0:0.0:0.0:0.0	.	433;433	B4DZ06;Q9BXU1	.;STK31_HUMAN	V	433;433;410;410	ENSP00000348132:E433V;ENSP00000411852:E433V;ENSP00000346660:E410V;ENSP00000406146:E410V	ENSP00000346660:E410V	E	+	2	0	STK31	23768949	1.000000	0.71417	1.000000	0.80357	0.936000	0.57629	5.402000	0.66332	2.110000	0.64415	0.477000	0.44152	GAA		PASS	0.323	STK31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214036.2	NM_031414		66	100	66	100	---	---	---	---
STK31	56164	broad.mit.edu	37	7	23808706	23808706	+	Missense_Mutation	SNP	T	T	G			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr7:23808706T>G	ENST00000355870.3	+	12	1628	c.1509T>G	c.(1507-1509)tgT>tgG	p.C503W	STK31_ENST00000428484.1_Missense_Mutation_p.C480W|STK31_ENST00000405627.3_3'UTR|STK31_ENST00000433467.2_Missense_Mutation_p.C503W|STK31_ENST00000354639.3_Missense_Mutation_p.C480W	NM_031414.4	NP_113602.2	Q9BXU1	STK31_HUMAN	serine/threonine kinase 31	503						acrosomal vesicle (GO:0001669)	ATP binding (GO:0005524)|hydrolase activity, acting on ester bonds (GO:0016788)|nucleic acid binding (GO:0003676)|protein serine/threonine kinase activity (GO:0004674)	p.C503W(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(31)|ovary(2)|prostate(1)|skin(7)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						ACTGGAAGTGTGATAAAAGAG	0.393																																						uc003sws.3																			1	Substitution - Missense(1)		lung(1)	skin(3)|lung(2)|ovary(2)|stomach(2)	9						c.(1507-1509)TGT>TGG		serine/threonine kinase 31 isoform a							92.0	97.0	95.0					7																	23808706		2203	4299	6502	SO:0001583	missense	56164						ATP binding|nucleic acid binding|protein serine/threonine kinase activity	g.chr7:23808706T>G	AF285599	CCDS5386.1, CCDS43556.1, CCDS59049.1	7p15.3	2014-04-23			ENSG00000196335	ENSG00000196335		"""Tudor domain containing"""	11407	protein-coding gene	gene with protein product		605790				11279525	Standard	NM_031414		Approved	TDRD8, SgK396	uc003sws.5	Q9BXU1	OTTHUMG00000023053	ENST00000355870.3:c.1509T>G	7.37:g.23808706T>G	ENSP00000348132:p.Cys503Trp					STK31_uc003swt.3_Missense_Mutation_p.C480W|STK31_uc011jze.1_Missense_Mutation_p.C503W|STK31_uc010kuq.2_Missense_Mutation_p.C480W	p.C503W	NM_031414	NP_113602	Q9BXU1	STK31_HUMAN			12	1576	+			503					B4DZ06|B7WPP5|C9J4F9|Q6PCD3|Q9BXH8	Missense_Mutation	SNP	ENST00000355870.3	37	c.1509T>G	CCDS5386.1	.	.	.	.	.	.	.	.	.	.	T	15.14	2.744015	0.49151	.	.	ENSG00000196335	ENST00000355870;ENST00000433467;ENST00000354639;ENST00000428484	T;T;T;T	0.69926	-0.44;1.29;-0.43;-0.43	5.3	2.82	0.32997	.	0.418945	0.23636	N	0.046074	T	0.60104	0.2243	L	0.56769	1.78	0.47374	D	0.999401	D;D	0.59357	0.985;0.985	P;P	0.46796	0.527;0.527	T	0.59252	-0.7489	10	0.48119	T	0.1	-9.8469	2.816	0.05456	0.144:0.0799:0.1498:0.6264	.	503;503	B4DZ06;Q9BXU1	.;STK31_HUMAN	W	503;503;480;480	ENSP00000348132:C503W;ENSP00000411852:C503W;ENSP00000346660:C480W;ENSP00000406146:C480W	ENSP00000346660:C480W	C	+	3	2	STK31	23775231	0.982000	0.34865	0.776000	0.31678	0.842000	0.47809	1.103000	0.31062	0.856000	0.35383	0.533000	0.62120	TGT		PASS	0.393	STK31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214036.2	NM_031414		42	135	42	135	---	---	---	---
HNRNPA2B1	3181	broad.mit.edu	37	7	26235514	26235514	+	Missense_Mutation	SNP	C	C	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr7:26235514C>A	ENST00000354667.4	-	8	878	c.710G>T	c.(709-711)gGa>gTa	p.G237V	HNRNPA2B1_ENST00000356674.7_Missense_Mutation_p.G225V	NM_031243.2	NP_112533.1	P22626	ROA2_HUMAN	heterogeneous nuclear ribonucleoprotein A2/B1	237	Gly-rich.				gene expression (GO:0010467)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of mRNA splicing, via spliceosome (GO:0048025)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|RNA splicing (GO:0008380)|RNA transport (GO:0050658)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|spliceosomal complex (GO:0005681)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|pre-mRNA intronic binding (GO:0097157)|RNA binding (GO:0003723)|single-stranded telomeric DNA binding (GO:0043047)	p.G237V(1)|p.G225V(1)	HNRNPA2B1/ETV1(8)	breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	22						AAATCCACGTCCACTGCCATA	0.383			T	ETV1	prostate																																	uc003sxr.3				Dom	yes		7	7p15	3181	T	heterogeneous nuclear ribonucleoprotein A2/B1			E	ETV1		prostate		2	Substitution - Missense(2)		lung(2)	ovary(1)|central_nervous_system(1)|skin(1)	3						c.(709-711)GGA>GTA		heterogeneous nuclear ribonucleoprotein A2/B1							111.0	95.0	100.0					7																	26235514		2203	4300	6503	SO:0001583	missense	3181				RNA transport	catalytic step 2 spliceosome|cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleolus|nucleoplasm	nucleotide binding|protein binding|protein binding|RNA binding|single-stranded telomeric DNA binding	g.chr7:26235514C>A	D28877	CCDS5397.1, CCDS43557.1	7p15	2013-02-12		2007-08-16	ENSG00000122566	ENSG00000122566		"""RNA binding motif (RRM) containing"""	5033	protein-coding gene	gene with protein product		600124		HNRPA2B1		8029005	Standard	NM_002137		Approved		uc003sxr.4	P22626	OTTHUMG00000023471	ENST00000354667.4:c.710G>T	7.37:g.26235514C>A	ENSP00000346694:p.Gly237Val					HNRNPA2B1_uc003sxs.3_Missense_Mutation_p.G225V	p.G237V	NM_031243	NP_112533	P22626	ROA2_HUMAN			8	926	-			237			Gly-rich.		A8K064|P22627|Q9UC98|Q9UDJ2	Missense_Mutation	SNP	ENST00000354667.4	37	c.710G>T	CCDS43557.1	.	.	.	.	.	.	.	.	.	.	C	21.1	4.096113	0.76870	.	.	ENSG00000122566	ENST00000354667;ENST00000356674	D;D	0.92397	-3.03;-3.03	5.92	5.92	0.95590	.	0.000000	0.64402	D	0.000002	D	0.96580	0.8884	M	0.86268	2.805	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.81914	0.995;0.988	D	0.95626	0.8685	10	0.45353	T	0.12	.	20.327	0.98704	0.0:1.0:0.0:0.0	.	225;237	P22626-2;P22626	.;ROA2_HUMAN	V	237;225	ENSP00000346694:G237V;ENSP00000349101:G225V	ENSP00000346694:G237V	G	-	2	0	HNRNPA2B1	26202039	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.199000	0.72112	2.794000	0.96219	0.650000	0.86243	GGA		PASS	0.383	HNRNPA2B1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000214109.1	NM_002137		34	55	34	55	---	---	---	---
CPVL	54504	broad.mit.edu	37	7	29126100	29126100	+	Splice_Site	SNP	C	C	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr7:29126100C>A	ENST00000409850.1	-	11	1255	c.609G>T	c.(607-609)gaG>gaT	p.E203D	AC007096.1_ENST00000411120.1_RNA|CPVL_ENST00000265394.5_Splice_Site_p.E203D|CPVL_ENST00000396276.3_Splice_Site_p.E203D			Q9H3G5	CPVL_HUMAN	carboxypeptidase, vitellogenic-like	203						extracellular vesicular exosome (GO:0070062)	serine-type carboxypeptidase activity (GO:0004185)	p.E203D(1)		NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(1)	28						TTCTACTTACCTCCCCAGTGA	0.308																																						uc003szv.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(607-609)GAG>GAT		serine carboxypeptidase vitellogenic-like							81.0	86.0	84.0					7																	29126100		2203	4300	6503	SO:0001630	splice_region_variant	54504				proteolysis		protein binding|serine-type carboxypeptidase activity	g.chr7:29126100C>A	AF106704	CCDS5419.1	7p15.1	2012-02-10			ENSG00000106066	ENSG00000106066			14399	protein-coding gene	gene with protein product	"""carboxypeptidase WUG"", ""vitellogenic carboxypeptidase-like protein"", ""CP-Mac carboxypeptidase"""	609780				11401439	Standard	XM_005249786		Approved		uc003szw.3	Q9H3G5	OTTHUMG00000023669	ENST00000409850.1:c.609+1G>T	7.37:g.29126100C>A						CPVL_uc003szw.2_Missense_Mutation_p.E203D|CPVL_uc003szx.2_Missense_Mutation_p.E203D	p.E203D	NM_031311	NP_112601	Q9H3G5	CPVL_HUMAN			7	728	-			203					A4D1A4|Q6UX20|Q8NBL7|Q96AR7|Q9HB41	Missense_Mutation	SNP	ENST00000409850.1	37	c.609G>T	CCDS5419.1	.	.	.	.	.	.	.	.	.	.	C	17.86	3.492611	0.64074	.	.	ENSG00000106066	ENST00000265394;ENST00000396276;ENST00000409850;ENST00000542995;ENST00000448959;ENST00000458405;ENST00000447426	D;D;D;D;D;D	0.92595	-3.07;-3.07;-3.07;-3.07;-3.07;-3.07	5.8	4.92	0.64577	.	0.000000	0.85682	D	0.000000	D	0.96331	0.8803	M	0.91140	3.18	0.58432	D	0.999998	D	0.89917	1.0	D	0.97110	1.0	D	0.96362	0.9267	9	.	.	.	-1.3383	9.6744	0.40032	0.0:0.8016:0.0:0.1984	.	203	Q9H3G5	CPVL_HUMAN	D	203;203;203;87;133;87;133	ENSP00000265394:E203D;ENSP00000379572:E203D;ENSP00000387164:E203D;ENSP00000409036:E133D;ENSP00000417015:E87D;ENSP00000395690:E133D	.	E	-	3	2	CPVL	29092625	1.000000	0.71417	1.000000	0.80357	0.658000	0.38924	3.612000	0.54142	1.462000	0.47948	0.655000	0.94253	GAG		PASS	0.308	CPVL-009	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328305.1	NM_019029	Missense_Mutation	24	103	24	103	---	---	---	---
GGCT	79017	broad.mit.edu	37	7	30544212	30544212	+	Silent	SNP	C	C	G			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr7:30544212C>G	ENST00000275428.4	-	1	248	c.114G>C	c.(112-114)gcG>gcC	p.A38A	GGCT_ENST00000409390.1_Silent_p.A38A|GGCT_ENST00000005374.6_Silent_p.A38A|GGCT_ENST00000409436.1_Silent_p.A38A|GGCT_ENST00000598361.1_Intron|GGCT_ENST00000409144.1_Silent_p.A38A	NM_024051.3	NP_076956.1	O75223	GGCT_HUMAN	gamma-glutamylcyclotransferase	38					glutathione biosynthetic process (GO:0006750)|glutathione derivative biosynthetic process (GO:1901687)|release of cytochrome c from mitochondria (GO:0001836)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	gamma-glutamylcyclotransferase activity (GO:0003839)|protein homodimerization activity (GO:0042803)	p.A38A(1)		endometrium(2)|kidney(1)|large_intestine(2)|lung(3)	8						AGAAGAACGCCGCCGAGGGGT	0.657																																						uc003tba.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(112-114)GCG>GCC		gamma-glutamyl cyclotransferase							61.0	59.0	60.0					7																	30544212		2203	4300	6503	SO:0001819	synonymous_variant	79017				release of cytochrome c from mitochondria	cytosol	acyltransferase activity|gamma-glutamylcyclotransferase activity|protein homodimerization activity	g.chr7:30544212C>G	BC019243	CCDS5428.1, CCDS56474.1, CCDS56475.1, CCDS56476.1	7p15-p14	2010-04-23	2010-04-23	2008-08-04	ENSG00000006625	ENSG00000006625	2.3.2.4		21705	protein-coding gene	gene with protein product		137170	"""chromosome 7 open reading frame 24"""	C7orf24, GCTG		17932939, 18515354	Standard	NM_024051		Approved	MGC3077, CRF21, Ggc	uc003tba.3	O75223	OTTHUMG00000128593	ENST00000275428.4:c.114G>C	7.37:g.30544212C>G						GGCT_uc003tbb.2_Silent_p.A38A|GGCT_uc003tbc.2_RNA	p.A38A	NM_024051	NP_076956	O75223	GGCT_HUMAN			1	241	-			38					B2RDN0|B8ZZN4|B8ZZR8|Q9BS37	Silent	SNP	ENST00000275428.4	37	c.114G>C	CCDS5428.1																																																																																				PASS	0.657	GGCT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250447.2	NM_024051		37	72	37	72	---	---	---	---
GHRHR	2692	broad.mit.edu	37	7	31011577	31011577	+	Splice_Site	SNP	G	G	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr7:31011577G>T	ENST00000326139.2	+	6	510		c.e6-1		GHRHR_ENST00000409316.1_Splice_Site|GHRHR_ENST00000409904.3_Splice_Site	NM_000823.3	NP_000814.2	Q02643	GHRHR_HUMAN	growth hormone releasing hormone receptor						activation of adenylate cyclase activity (GO:0007190)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|cAMP-mediated signaling (GO:0019933)|cell maturation (GO:0048469)|cellular response to insulin stimulus (GO:0032869)|determination of adult lifespan (GO:0008340)|growth hormone secretion (GO:0030252)|hormone metabolic process (GO:0042445)|lactation (GO:0007595)|multicellular organismal reproductive process (GO:0048609)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of cell proliferation (GO:0008284)|positive regulation of growth hormone secretion (GO:0060124)|positive regulation of insulin-like growth factor receptor signaling pathway (GO:0043568)|positive regulation of multicellular organism growth (GO:0040018)|regulation of intracellular steroid hormone receptor signaling pathway (GO:0033143)|regulation of protein metabolic process (GO:0051246)|response to estrogen (GO:0043627)|response to glucocorticoid (GO:0051384)|response to insulin (GO:0032868)|somatotropin secreting cell development (GO:0060133)|water homeostasis (GO:0030104)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|nuclear inner membrane (GO:0005637)|nuclear matrix (GO:0016363)|nuclear outer membrane (GO:0005640)|plasma membrane (GO:0005886)|secretory granule (GO:0030141)	G-protein coupled receptor activity (GO:0004930)|growth factor binding (GO:0019838)|growth hormone-releasing hormone receptor activity (GO:0016520)|peptide hormone binding (GO:0017046)	p.?(1)		biliary_tract(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(3)|lung(18)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	35					Sermorelin(DB00010)|Tesamorelin(DB08869)	ATTACCCCCAGGAGGCTCCAC	0.557																																						uc003tbx.2																			1	Unknown(1)		lung(1)	ovary(2)|lung(1)|breast(1)|large_intestine(1)	5						c.e6-1		growth hormone releasing hormone receptor	Sermorelin(DB00010)						100.0	86.0	91.0					7																	31011577		2203	4300	6503	SO:0001630	splice_region_variant	2692				activation of adenylate cyclase activity by G-protein signaling pathway|positive regulation of cAMP biosynthetic process|positive regulation of cell proliferation|positive regulation of growth hormone secretion|positive regulation of insulin-like growth factor receptor signaling pathway|positive regulation of multicellular organism growth|response to estrogen stimulus|response to glucocorticoid stimulus	cell surface|integral to membrane|nuclear inner membrane|nuclear matrix|nuclear outer membrane|plasma membrane|stored secretory granule	growth factor binding|growth hormone-releasing hormone receptor activity|peptide hormone binding	g.chr7:31011577G>T		CCDS5432.1	7p14	2012-08-10			ENSG00000106128	ENSG00000106128		"""GPCR / Class B : Glucagon receptors"""	4266	protein-coding gene	gene with protein product		139191				7680413, 7514564	Standard	NM_000823		Approved		uc003tbx.3	Q02643	OTTHUMG00000152801	ENST00000326139.2:c.465-1G>T	7.37:g.31011577G>T						GHRHR_uc003tbw.1_Splice_Site_p.R155_splice|GHRHR_uc003tby.2_Splice_Site_p.R91_splice|GHRHR_uc003tbz.2_Splice_Site	p.R155_splice	NM_000823	NP_000814	Q02643	GHRHR_HUMAN			6	513	+								Q99863	Splice_Site	SNP	ENST00000326139.2	37	c.465_splice	CCDS5432.1	.	.	.	.	.	.	.	.	.	.	G	12.41	1.928797	0.34002	.	.	ENSG00000106128	ENST00000326139;ENST00000409904	.	.	.	4.66	4.66	0.58398	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.0929	0.72211	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	GHRHR	30978102	1.000000	0.71417	1.000000	0.80357	0.363000	0.29612	6.979000	0.76154	2.399000	0.81585	0.561000	0.74099	.		PASS	0.557	GHRHR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327967.2		Intron	16	120	16	120	---	---	---	---
BMPER	168667	broad.mit.edu	37	7	34014336	34014336	+	Missense_Mutation	SNP	G	G	C			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr7:34014336G>C	ENST00000297161.2	+	7	890	c.516G>C	c.(514-516)caG>caC	p.Q172H	BMPER_ENST00000426693.1_Missense_Mutation_p.Q172H	NM_133468.4	NP_597725.1	Q8N8U9	BMPER_HUMAN	BMP binding endothelial regulator	172	VWFC 3. {ECO:0000255|PROSITE- ProRule:PRU00220}.				blood vessel endothelial cell proliferation involved in sprouting angiogenesis (GO:0002043)|endothelial cell activation (GO:0042118)|inner ear development (GO:0048839)|negative regulation of BMP signaling pathway (GO:0030514)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|regulation of endothelial cell migration (GO:0010594)|regulation of pathway-restricted SMAD protein phosphorylation (GO:0060393)|ureteric bud development (GO:0001657)	extracellular space (GO:0005615)		p.Q172H(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(24)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48						AGGGTGTGCAGTATCAAGAAG	0.483																																						uc011kap.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)|central_nervous_system(1)	3						c.(514-516)CAG>CAC		BMP-binding endothelial regulator precursor							303.0	265.0	278.0					7																	34014336		2203	4300	6503	SO:0001583	missense	168667				blood vessel endothelial cell proliferation involved in sprouting angiogenesis|endothelial cell activation|negative regulation of BMP signaling pathway|positive regulation of ERK1 and ERK2 cascade|regulation of endothelial cell migration|regulation of pathway-restricted SMAD protein phosphorylation	extracellular space		g.chr7:34014336G>C		CCDS5442.1	7p14.3	2009-02-18			ENSG00000164619	ENSG00000164619			24154	protein-coding gene	gene with protein product	"""crossveinless-2"""	608699				12897139, 14766204	Standard	NM_133468		Approved	Cv2, CRIM3	uc011kap.2	Q8N8U9	OTTHUMG00000128675	ENST00000297161.2:c.516G>C	7.37:g.34014336G>C	ENSP00000297161:p.Gln172His						p.Q172H	NM_133468	NP_597725	Q8N8U9	BMPER_HUMAN			6	630	+			172			VWFC 3.		A8K1P8|Q8TF36	Missense_Mutation	SNP	ENST00000297161.2	37	c.516G>C	CCDS5442.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	9.956|9.956	1.221542|1.221542	0.22457|0.22457	.|.	.|.	ENSG00000164619|ENSG00000164619	ENST00000297161;ENST00000426693|ENST00000436222	T;T|.	0.72282|.	-0.64;-0.64|.	5.33|5.33	3.51|3.51	0.40186|0.40186	von Willebrand factor, type C (3);|.	0.299670|.	0.32287|.	N|.	0.006310|.	T|T	0.39963|0.39963	0.1098|0.1098	N|N	0.17312|0.17312	0.475|0.475	0.36614|0.36614	D|D	0.875379|0.875379	B|.	0.02656|.	0.0|.	B|.	0.04013|.	0.001|.	T|T	0.47169|0.47169	-0.9138|-0.9138	10|6	0.15066|0.87932	T|D	0.55|0	.|.	6.0243|6.0243	0.19646|0.19646	0.1584:0.0:0.6875:0.1541|0.1584:0.0:0.6875:0.1541	.|.	172|.	Q8N8U9|.	BMPER_HUMAN|.	H|T	172|139	ENSP00000297161:Q172H;ENSP00000393950:Q172H|.	ENSP00000297161:Q172H|ENSP00000399843:S139T	Q|S	+|+	3|2	2|0	BMPER|BMPER	33980861|33980861	1.000000|1.000000	0.71417|0.71417	0.988000|0.988000	0.46212|0.46212	0.736000|0.736000	0.42039|0.42039	1.484000|1.484000	0.35508|0.35508	0.720000|0.720000	0.32209|0.32209	0.655000|0.655000	0.94253|0.94253	CAG|AGT		PASS	0.483	BMPER-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250570.2	NM_133468		63	109	63	109	---	---	---	---
BMPER	168667	broad.mit.edu	37	7	34091578	34091578	+	Missense_Mutation	SNP	G	G	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr7:34091578G>A	ENST00000297161.2	+	9	1156	c.782G>A	c.(781-783)tGc>tAc	p.C261Y	BMPER_ENST00000426693.1_Missense_Mutation_p.C261Y|BMPER_ENST00000494786.1_3'UTR	NM_133468.4	NP_597725.1	Q8N8U9	BMPER_HUMAN	BMP binding endothelial regulator	261	VWFC 4. {ECO:0000255|PROSITE- ProRule:PRU00220}.				blood vessel endothelial cell proliferation involved in sprouting angiogenesis (GO:0002043)|endothelial cell activation (GO:0042118)|inner ear development (GO:0048839)|negative regulation of BMP signaling pathway (GO:0030514)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|regulation of endothelial cell migration (GO:0010594)|regulation of pathway-restricted SMAD protein phosphorylation (GO:0060393)|ureteric bud development (GO:0001657)	extracellular space (GO:0005615)		p.C261Y(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(24)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48						GCTTGTACCTGCAGGGTAAGG	0.463																																						uc011kap.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)|central_nervous_system(1)	3						c.(781-783)TGC>TAC		BMP-binding endothelial regulator precursor							148.0	131.0	136.0					7																	34091578		2203	4300	6503	SO:0001583	missense	168667				blood vessel endothelial cell proliferation involved in sprouting angiogenesis|endothelial cell activation|negative regulation of BMP signaling pathway|positive regulation of ERK1 and ERK2 cascade|regulation of endothelial cell migration|regulation of pathway-restricted SMAD protein phosphorylation	extracellular space		g.chr7:34091578G>A		CCDS5442.1	7p14.3	2009-02-18			ENSG00000164619	ENSG00000164619			24154	protein-coding gene	gene with protein product	"""crossveinless-2"""	608699				12897139, 14766204	Standard	NM_133468		Approved	Cv2, CRIM3	uc011kap.2	Q8N8U9	OTTHUMG00000128675	ENST00000297161.2:c.782G>A	7.37:g.34091578G>A	ENSP00000297161:p.Cys261Tyr						p.C261Y	NM_133468	NP_597725	Q8N8U9	BMPER_HUMAN			8	896	+			261			VWFC 4.		A8K1P8|Q8TF36	Missense_Mutation	SNP	ENST00000297161.2	37	c.782G>A	CCDS5442.1	.	.	.	.	.	.	.	.	.	.	G	17.23	3.337817	0.60963	.	.	ENSG00000164619	ENST00000297161;ENST00000426693	D;D	0.99474	-5.97;-5.97	5.12	5.12	0.69794	von Willebrand factor, type C (1);	0.064278	0.85682	D	0.000000	D	0.99585	0.9850	M	0.89353	3.025	0.80722	D	1	D	0.89917	1.0	D	0.77557	0.99	D	0.98336	1.0536	10	0.52906	T	0.07	.	18.9555	0.92657	0.0:0.0:1.0:0.0	.	261	Q8N8U9	BMPER_HUMAN	Y	261	ENSP00000297161:C261Y;ENSP00000393950:C261Y	ENSP00000297161:C261Y	C	+	2	0	BMPER	34058103	1.000000	0.71417	0.996000	0.52242	0.240000	0.25518	8.861000	0.92277	2.542000	0.85734	0.655000	0.94253	TGC		PASS	0.463	BMPER-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250570.2	NM_133468		50	83	50	83	---	---	---	---
BMPER	168667	broad.mit.edu	37	7	34118635	34118635	+	Silent	SNP	C	C	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr7:34118635C>T	ENST00000297161.2	+	13	1619	c.1245C>T	c.(1243-1245)ttC>ttT	p.F415F	BMPER_ENST00000426693.1_Silent_p.F415F	NM_133468.4	NP_597725.1	Q8N8U9	BMPER_HUMAN	BMP binding endothelial regulator	415	VWFD. {ECO:0000255|PROSITE- ProRule:PRU00580}.				blood vessel endothelial cell proliferation involved in sprouting angiogenesis (GO:0002043)|endothelial cell activation (GO:0042118)|inner ear development (GO:0048839)|negative regulation of BMP signaling pathway (GO:0030514)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|regulation of endothelial cell migration (GO:0010594)|regulation of pathway-restricted SMAD protein phosphorylation (GO:0060393)|ureteric bud development (GO:0001657)	extracellular space (GO:0005615)		p.F415F(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(24)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48						CACGCTCCTTCTCGTGGACCA	0.647																																						uc011kap.1																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|central_nervous_system(1)	3						c.(1243-1245)TTC>TTT		BMP-binding endothelial regulator precursor							87.0	90.0	89.0					7																	34118635		2203	4300	6503	SO:0001819	synonymous_variant	168667				blood vessel endothelial cell proliferation involved in sprouting angiogenesis|endothelial cell activation|negative regulation of BMP signaling pathway|positive regulation of ERK1 and ERK2 cascade|regulation of endothelial cell migration|regulation of pathway-restricted SMAD protein phosphorylation	extracellular space		g.chr7:34118635C>T		CCDS5442.1	7p14.3	2009-02-18			ENSG00000164619	ENSG00000164619			24154	protein-coding gene	gene with protein product	"""crossveinless-2"""	608699				12897139, 14766204	Standard	NM_133468		Approved	Cv2, CRIM3	uc011kap.2	Q8N8U9	OTTHUMG00000128675	ENST00000297161.2:c.1245C>T	7.37:g.34118635C>T							p.F415F	NM_133468	NP_597725	Q8N8U9	BMPER_HUMAN			12	1359	+			415			VWFD.		A8K1P8|Q8TF36	Silent	SNP	ENST00000297161.2	37	c.1245C>T	CCDS5442.1																																																																																				PASS	0.647	BMPER-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250570.2	NM_133468		75	108	75	108	---	---	---	---
AMPH	273	broad.mit.edu	37	7	38424479	38424479	+	Nonsense_Mutation	SNP	G	G	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr7:38424479G>T	ENST00000356264.2	-	21	2243	c.2028C>A	c.(2026-2028)taC>taA	p.Y676*	AMPH_ENST00000325590.5_Nonsense_Mutation_p.Y634*|AMPH_ENST00000428293.2_Nonsense_Mutation_p.Y634*	NM_001635.3	NP_001626.1	P49418	AMPH_HUMAN	amphiphysin	676	SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				endocytosis (GO:0006897)|learning (GO:0007612)|synaptic transmission (GO:0007268)|synaptic vesicle endocytosis (GO:0048488)	actin cytoskeleton (GO:0015629)|cell junction (GO:0030054)|leading edge membrane (GO:0031256)|synaptic vesicle (GO:0008021)	phospholipid binding (GO:0005543)	p.Y676*(1)		breast(1)|endometrium(3)|kidney(3)|large_intestine(12)|liver(3)|lung(27)|ovary(3)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)	62						CAAGGTCTCTGTACTGAAGCC	0.493																																						uc003tgu.2																			1	Substitution - Nonsense(1)		lung(1)	ovary(3)|liver(1)|skin(1)	5						c.(2026-2028)TAC>TAA		amphiphysin isoform 1							123.0	115.0	118.0					7																	38424479		2203	4300	6503	SO:0001587	stop_gained	273				endocytosis|synaptic transmission	actin cytoskeleton|cell junction|synaptic vesicle membrane		g.chr7:38424479G>T		CCDS5456.1, CCDS47574.1	7p14-p13	2007-06-19	2007-06-19		ENSG00000078053	ENSG00000078053			471	protein-coding gene	gene with protein product		600418	"""amphiphysin (Stiff-Mann syndrome with breast cancer 128kD autoantigen)"", ""amphiphysin (Stiff-Man syndrome with breast cancer 128kDa autoantigen)"""			8245793	Standard	NM_139316		Approved		uc003tgu.3	P49418	OTTHUMG00000023725	ENST00000356264.2:c.2028C>A	7.37:g.38424479G>T	ENSP00000348602:p.Tyr676*					AMPH_uc003tgv.2_Nonsense_Mutation_p.Y634*|AMPH_uc003tgt.2_Nonsense_Mutation_p.Y561*	p.Y676*	NM_001635	NP_001626	P49418	AMPH_HUMAN			21	2097	-			676			SH3.		A4D1X8|A4D1X9|O43538|Q75MJ8|Q75MK5|Q75MM3|Q8N4G0	Nonsense_Mutation	SNP	ENST00000356264.2	37	c.2028C>A	CCDS5456.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	37|37	6.189712|6.189712	0.97362|0.97362	.|.	.|.	ENSG00000078053|ENSG00000078053	ENST00000441628|ENST00000325590;ENST00000356264;ENST00000428293;ENST00000353242	.|.	.|.	.|.	5.56|5.56	3.77|3.77	0.43336|0.43336	.|.	.|0.567260	.|0.18713	.|N	.|0.133257	T|.	0.53384|.	0.1793|.	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.36138|.	-0.9760|.	4|.	.|0.15499	.|T	.|0.54	-2.7517|-2.7517	12.506|12.506	0.55981|0.55981	0.1359:0.0:0.8641:0.0|0.1359:0.0:0.8641:0.0	.|.	.|.	.|.	.|.	K|X	559|634;676;634;578	.|.	.|ENSP00000317441:Y634X	Q|Y	-|-	1|3	0|2	AMPH|AMPH	38391004|38391004	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.760000|0.760000	0.43138|0.43138	3.465000|3.465000	0.53064|0.53064	0.841000|0.841000	0.35020|0.35020	0.650000|0.650000	0.86243|0.86243	CAG|TAC		PASS	0.493	AMPH-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000226953.2	NM_001635		28	70	28	70	---	---	---	---
INHBA	3624	broad.mit.edu	37	7	41729316	41729316	+	Missense_Mutation	SNP	C	C	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr7:41729316C>T	ENST00000242208.4	-	3	1459	c.1213G>A	c.(1213-1215)Gat>Aat	p.D405N	INHBA_ENST00000442711.1_Missense_Mutation_p.D405N|INHBA_ENST00000464515.1_5'UTR|AC005027.3_ENST00000416150.1_RNA	NM_002192.2	NP_002183.1	P08476	INHBA_HUMAN	inhibin, beta A	405					activin receptor signaling pathway (GO:0032924)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell surface receptor signaling pathway (GO:0007166)|cell-cell signaling (GO:0007267)|cellular response to cholesterol (GO:0071397)|cellular response to follicle-stimulating hormone stimulus (GO:0071372)|defense response (GO:0006952)|endodermal cell differentiation (GO:0035987)|erythrocyte differentiation (GO:0030218)|extrinsic apoptotic signaling pathway (GO:0097191)|eyelid development in camera-type eye (GO:0061029)|G1/S transition of mitotic cell cycle (GO:0000082)|growth (GO:0040007)|hair follicle development (GO:0001942)|hematopoietic progenitor cell differentiation (GO:0002244)|hemoglobin biosynthetic process (GO:0042541)|male gonad development (GO:0008584)|mesodermal cell differentiation (GO:0048333)|negative regulation of B cell differentiation (GO:0045578)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of follicle-stimulating hormone secretion (GO:0046882)|negative regulation of interferon-gamma biosynthetic process (GO:0045077)|negative regulation of macrophage differentiation (GO:0045650)|negative regulation of phosphorylation (GO:0042326)|nervous system development (GO:0007399)|odontogenesis (GO:0042476)|ovarian follicle development (GO:0001541)|palate development (GO:0060021)|positive regulation of cellular protein metabolic process (GO:0032270)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of follicle-stimulating hormone secretion (GO:0046881)|positive regulation of ovulation (GO:0060279)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|progesterone secretion (GO:0042701)|regulation of follicle-stimulating hormone secretion (GO:0046880)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to drug (GO:0042493)	activin A complex (GO:0043509)|extracellular region (GO:0005576)|inhibin A complex (GO:0043512)	cytokine activity (GO:0005125)|growth factor activity (GO:0008083)|hormone activity (GO:0005179)|identical protein binding (GO:0042802)|peptide hormone binding (GO:0017046)|type II activin receptor binding (GO:0070699)	p.D405N(1)		biliary_tract(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(15)|lung(26)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55						TGACCATCATCATAGTACAAC	0.517										TSP Lung(11;0.080)																												uc003thq.2																			1	Substitution - Missense(1)		lung(1)	lung(5)|ovary(1)	6						c.(1213-1215)GAT>AAT		inhibin beta A precursor							123.0	104.0	110.0					7																	41729316		2203	4300	6503	SO:0001583	missense	3624				cell cycle arrest|cell surface receptor linked signaling pathway|defense response|erythrocyte differentiation|eyelid development in camera-type eye|G1/S transition of mitotic cell cycle|growth|hair follicle development|hemoglobin biosynthetic process|hemopoietic progenitor cell differentiation|induction of apoptosis|male gonad development|negative regulation of B cell differentiation|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of follicle-stimulating hormone secretion|negative regulation of interferon-gamma biosynthetic process|negative regulation of macrophage differentiation|negative regulation of phosphorylation|nervous system development|odontogenesis|ovarian follicle development|palate development|positive regulation of erythrocyte differentiation|positive regulation of follicle-stimulating hormone secretion|positive regulation of ovulation|positive regulation of transcription from RNA polymerase II promoter|progesterone secretion|regulation of activin receptor signaling pathway	activin A complex|inhibin A complex	cytokine activity|follistatin binding|growth factor activity|hormone activity|identical protein binding|signal transducer activity	g.chr7:41729316C>T		CCDS5464.1	7p15-p13	2014-01-30	2007-07-30		ENSG00000122641	ENSG00000122641		"""Endogenous ligands"""	6066	protein-coding gene	gene with protein product		147290	"""inhibin, beta A (activin A, activin AB alpha polypeptide)"""			3345731	Standard	NM_002192		Approved		uc003thr.3	P08476	OTTHUMG00000023574	ENST00000242208.4:c.1213G>A	7.37:g.41729316C>T	ENSP00000242208:p.Asp405Asn	TSP Lung(11;0.080)				INHBA_uc003thr.2_Missense_Mutation_p.D405N	p.D405N	NM_002192	NP_002183	P08476	INHBA_HUMAN			2	1448	-			405					Q14599	Missense_Mutation	SNP	ENST00000242208.4	37	c.1213G>A	CCDS5464.1	.	.	.	.	.	.	.	.	.	.	.	13.51	2.258224	0.39896	.	.	ENSG00000122641	ENST00000242208;ENST00000442711	D;D	0.85171	-1.95;-1.95	5.86	5.86	0.93980	Transforming growth factor-beta, C-terminal (3);	0.042539	0.85682	D	0.000000	T	0.81583	0.4853	L	0.41027	1.25	0.53688	D	0.999977	P	0.36027	0.533	B	0.37387	0.248	T	0.77135	-0.2699	10	0.15066	T	0.55	-20.3713	20.1781	0.98191	0.0:1.0:0.0:0.0	.	405	P08476	INHBA_HUMAN	N	405	ENSP00000242208:D405N;ENSP00000397197:D405N	ENSP00000242208:D405N	D	-	1	0	INHBA	41695841	1.000000	0.71417	0.992000	0.48379	0.995000	0.86356	3.940000	0.56599	2.778000	0.95560	0.591000	0.81541	GAT		PASS	0.517	INHBA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250793.1			50	80	50	80	---	---	---	---
GLI3	2737	broad.mit.edu	37	7	42005297	42005297	+	Missense_Mutation	SNP	C	C	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr7:42005297C>A	ENST00000395925.3	-	15	3458	c.3374G>T	c.(3373-3375)gGg>gTg	p.G1125V	GLI3_ENST00000479210.1_5'UTR	NM_000168.5	NP_000159.3	P10071	GLI3_HUMAN	GLI family zinc finger 3	1125					anterior semicircular canal development (GO:0060873)|anterior/posterior pattern specification (GO:0009952)|artery development (GO:0060840)|axon guidance (GO:0007411)|branching involved in ureteric bud morphogenesis (GO:0001658)|camera-type eye morphogenesis (GO:0048593)|cell differentiation involved in kidney development (GO:0061005)|cerebral cortex radial glia guided migration (GO:0021801)|developmental growth (GO:0048589)|embryonic digestive tract development (GO:0048566)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic digit morphogenesis (GO:0042733)|embryonic skeletal system morphogenesis (GO:0048704)|forebrain dorsal/ventral pattern formation (GO:0021798)|forebrain radial glial cell differentiation (GO:0021861)|frontal suture morphogenesis (GO:0060364)|heart development (GO:0007507)|hindgut morphogenesis (GO:0007442)|hippocampus development (GO:0021766)|in utero embryonic development (GO:0001701)|lambdoid suture morphogenesis (GO:0060366)|lateral ganglionic eminence cell proliferation (GO:0022018)|lateral semicircular canal development (GO:0060875)|limb morphogenesis (GO:0035108)|lung development (GO:0030324)|mammary gland specification (GO:0060594)|melanocyte differentiation (GO:0030318)|metanephros development (GO:0001656)|negative regulation of alpha-beta T cell differentiation (GO:0046639)|negative regulation of apoptotic process (GO:0043066)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell proliferation (GO:0008285)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative thymic T cell selection (GO:0045060)|nose morphogenesis (GO:0043585)|odontogenesis of dentin-containing tooth (GO:0042475)|oligodendrocyte differentiation (GO:0048709)|optic nerve morphogenesis (GO:0021631)|palate development (GO:0060021)|positive regulation of alpha-beta T cell differentiation (GO:0046638)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of protein import into nucleus (GO:0042307)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein processing (GO:0016485)|proximal/distal pattern formation (GO:0009954)|response to estrogen (GO:0043627)|sagittal suture morphogenesis (GO:0060367)|smoothened signaling pathway (GO:0007224)|smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:0060831)|smoothened signaling pathway involved in spinal cord motor neuron cell fate specification (GO:0021776)|smoothened signaling pathway involved in ventral spinal cord interneuron specification (GO:0021775)|T cell differentiation in thymus (GO:0033077)|thymocyte apoptotic process (GO:0070242)|tongue development (GO:0043586)|transcription, DNA-templated (GO:0006351)|wound healing (GO:0042060)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|primary cilium (GO:0072372)|transcriptional repressor complex (GO:0017053)	beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|histone acetyltransferase binding (GO:0035035)|histone deacetylase binding (GO:0042826)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.G1125V(1)		NS(2)|biliary_tract(1)|breast(4)|central_nervous_system(2)|endometrium(12)|kidney(7)|large_intestine(25)|lung(49)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	112						GTCACCGGGCCCGTGGGGCAC	0.657									Pallister-Hall syndrome;Greig Cephalopolysyndactyly																													uc011kbh.1																			1	Substitution - Missense(1)		lung(1)	lung(11)|ovary(3)|large_intestine(2)|central_nervous_system(1)|kidney(1)|pancreas(1)	19						c.(3373-3375)GGG>GTG		GLI-Kruppel family member GLI3							55.0	61.0	59.0					7																	42005297		2203	4300	6503	SO:0001583	missense	2737	Greig_Cephalopolysyndactyly|Pallister-Hall_syndrome	Familial Cancer Database	;	negative regulation of alpha-beta T cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of smoothened signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative thymic T cell selection|positive regulation of alpha-beta T cell differentiation|positive regulation of transcription from RNA polymerase II promoter|thymocyte apoptosis	cilium|cytosol|nucleolus	beta-catenin binding|histone acetyltransferase binding|histone deacetylase binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr7:42005297C>A		CCDS5465.1	7p13	2013-01-25	2009-03-05		ENSG00000106571	ENSG00000106571		"""Zinc fingers, C2H2-type"""	4319	protein-coding gene	gene with protein product	"""zinc finger protein GLI3"", ""oncogene GLI3"", ""DNA-binding protein"""	165240	"""Greig cephalopolysyndactyly syndrome"", ""GLI-Kruppel family member GLI3"", ""glioma-associated oncogene family zinc finger 3"""	GCPS, PHS		2118997	Standard	NM_000168		Approved	PAP-A, PAPA, PAPA1, PAPB, ACLS, PPDIV	uc011kbh.2	P10071	OTTHUMG00000023630	ENST00000395925.3:c.3374G>T	7.37:g.42005297C>A	ENSP00000379258:p.Gly1125Val					GLI3_uc011kbg.1_Missense_Mutation_p.G1066V	p.G1125V	NM_000168	NP_000159	P10071	GLI3_HUMAN			15	3465	-			1125					A4D1W1|O75219|Q17RW4|Q75MT0|Q75MU9|Q9UDT5|Q9UJ39	Missense_Mutation	SNP	ENST00000395925.3	37	c.3374G>T	CCDS5465.1	.	.	.	.	.	.	.	.	.	.	C	6.123	0.391013	0.11581	.	.	ENSG00000106571	ENST00000395925	T	0.14766	2.48	5.67	2.78	0.32641	.	0.519615	0.22481	N	0.059489	T	0.11452	0.0279	L	0.43923	1.385	0.22918	N	0.998563	B	0.24092	0.097	B	0.23150	0.044	T	0.23868	-1.0176	10	0.32370	T	0.25	.	8.9244	0.35632	0.0:0.6405:0.2837:0.0759	.	1125	P10071	GLI3_HUMAN	V	1125	ENSP00000379258:G1125V	ENSP00000379258:G1125V	G	-	2	0	GLI3	41971822	0.000000	0.05858	0.014000	0.15608	0.566000	0.35808	0.371000	0.20450	0.287000	0.22375	-0.300000	0.09419	GGG		PASS	0.657	GLI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250806.3	NM_000168		28	93	28	93	---	---	---	---
ZMIZ2	83637	broad.mit.edu	37	7	44804560	44804560	+	Missense_Mutation	SNP	G	G	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr7:44804560G>T	ENST00000309315.4	+	15	2072	c.1949G>T	c.(1948-1950)gGc>gTc	p.G650V	ZMIZ2_ENST00000433667.1_Missense_Mutation_p.G618V|ZMIZ2_ENST00000265346.7_Missense_Mutation_p.G624V|ZMIZ2_ENST00000413916.1_Missense_Mutation_p.G592V|ZMIZ2_ENST00000441627.1_Missense_Mutation_p.G650V	NM_031449.3	NP_113637.3	Q8NF64	ZMIZ2_HUMAN	zinc finger, MIZ-type containing 2	650					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	mitochondrion (GO:0005739)|nuclear replication fork (GO:0043596)|nucleus (GO:0005634)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|zinc ion binding (GO:0008270)	p.G650V(1)		breast(3)|endometrium(2)|kidney(3)|large_intestine(6)|lung(10)|ovary(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						TTGCTGGAGGGCCTGGAGGTG	0.557																																					NSCLC(20;604 852 1948 16908 50522)	uc003tlr.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|large_intestine(2)|breast(1)	5						c.(1948-1950)GGC>GTC		zinc finger, MIZ-type containing 2 isoform 1							109.0	114.0	112.0					7																	44804560		2082	4251	6333	SO:0001583	missense	83637				positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear replication fork	ligand-dependent nuclear receptor transcription coactivator activity|protein binding|zinc ion binding	g.chr7:44804560G>T	AK090415	CCDS43576.1, CCDS43577.1, CCDS75591.1	7p13	2009-11-06			ENSG00000122515	ENSG00000122515		"""Zinc fingers, MIZ-type"""	22229	protein-coding gene	gene with protein product		611196					Standard	XM_005249866		Approved	KIAA1886, hZIMP7, ZIMP7, DKFZp761I2123, NET27	uc003tlr.3	Q8NF64	OTTHUMG00000155817	ENST00000309315.4:c.1949G>T	7.37:g.44804560G>T	ENSP00000311778:p.Gly650Val					ZMIZ2_uc003tlq.2_Missense_Mutation_p.G592V|ZMIZ2_uc003tls.2_Missense_Mutation_p.G624V|ZMIZ2_uc003tlt.2_Missense_Mutation_p.G273V|ZMIZ2_uc010kyj.2_Missense_Mutation_p.G172V|ZMIZ2_uc003tlu.2_5'Flank	p.G650V	NM_031449	NP_113637	Q8NF64	ZMIZ2_HUMAN			15	2072	+			650			SP-RING-type.		A4D2K7|D3DVL1|O94790|Q0VGB4|Q659A8|Q6JKL5|Q8WTX8|Q96Q01|Q9BQH7	Missense_Mutation	SNP	ENST00000309315.4	37	c.1949G>T	CCDS43576.1	.	.	.	.	.	.	.	.	.	.	G	19.13	3.767092	0.69878	.	.	ENSG00000122515	ENST00000413916;ENST00000309315;ENST00000441627;ENST00000433667;ENST00000265346;ENST00000414051	D;D;D;D;D	0.83673	-1.75;-1.75;-1.75;-1.75;-1.75	4.83	4.83	0.62350	Zinc finger, MIZ-type (1);	0.000000	0.64402	D	0.000013	D	0.91492	0.7314	M	0.86740	2.835	0.80722	D	1	D;D;D	0.89917	0.997;1.0;1.0	D;D;D	0.80764	0.963;0.986;0.994	D	0.92573	0.6068	10	0.72032	D	0.01	-11.9517	13.8276	0.63359	0.0:0.0:0.8465:0.1535	.	624;650;592	Q8NF64-2;Q8NF64;Q8NF64-3	.;ZMIZ2_HUMAN;.	V	592;650;650;618;624;653	ENSP00000409648:G592V;ENSP00000311778:G650V;ENSP00000414723:G650V;ENSP00000396601:G618V;ENSP00000265346:G624V	ENSP00000265346:G624V	G	+	2	0	ZMIZ2	44771085	1.000000	0.71417	1.000000	0.80357	0.957000	0.61999	7.319000	0.79040	2.515000	0.84797	0.462000	0.41574	GGC		PASS	0.557	ZMIZ2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341790.1	NM_031449		29	64	29	64	---	---	---	---
ABCA13	154664	broad.mit.edu	37	7	48318020	48318020	+	Missense_Mutation	SNP	G	G	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr7:48318020G>T	ENST00000435803.1	+	18	7253	c.7229G>T	c.(7228-7230)gGg>gTg	p.G2410V		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	2410					transport (GO:0006810)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)	p.G2355V(1)|p.G2410V(1)		breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						CAAGATCTTGGGTCAGCTCTT	0.368																																						uc003toq.2																			2	Substitution - Missense(2)		lung(2)	ovary(5)|central_nervous_system(4)|skin(1)	10						c.(7228-7230)GGG>GTG		ATP binding cassette, sub-family A (ABC1),							67.0	65.0	65.0					7																	48318020		1846	4099	5945	SO:0001583	missense	154664				transport	integral to membrane	ATP binding|ATPase activity	g.chr7:48318020G>T	AY204751	CCDS47584.1	7p12.3	2012-03-14			ENSG00000179869	ENSG00000179869		"""ATP binding cassette transporters / subfamily A"""	14638	protein-coding gene	gene with protein product		607807				12697998	Standard	NM_152701		Approved	FLJ33876, FLJ33951	uc003toq.2	Q86UQ4	OTTHUMG00000155840	ENST00000435803.1:c.7229G>T	7.37:g.48318020G>T	ENSP00000411096:p.Gly2410Val					ABCA13_uc010kys.1_5'Flank	p.G2410V	NM_152701	NP_689914	Q86UQ4	ABCAD_HUMAN			18	7254	+			2410					K9LC76|K9LC79|K9LCX7|K9LDK8|K9LDY4|Q6ZTT7|Q86WI2|Q8N248	Missense_Mutation	SNP	ENST00000435803.1	37	c.7229G>T	CCDS47584.1	.	.	.	.	.	.	.	.	.	.	G	10.97	1.502523	0.26949	.	.	ENSG00000179869	ENST00000435803	T	0.51325	0.71	5.1	-0.265	0.12946	.	0.850086	0.10174	N	0.706684	T	0.23727	0.0574	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.19844	-1.0293	10	0.66056	D	0.02	.	4.2492	0.10686	0.2811:0.3275:0.3915:0.0	.	2410	Q86UQ4	ABCAD_HUMAN	V	2410	ENSP00000411096:G2410V	ENSP00000411096:G2410V	G	+	2	0	ABCA13	48288566	0.000000	0.05858	0.000000	0.03702	0.078000	0.17371	0.189000	0.17037	0.252000	0.21531	0.655000	0.94253	GGG		PASS	0.368	ABCA13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341964.2	NM_152701		34	63	34	63	---	---	---	---
ABCA13	154664	broad.mit.edu	37	7	48451964	48451964	+	Missense_Mutation	SNP	G	G	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr7:48451964G>T	ENST00000435803.1	+	41	12267	c.12243G>T	c.(12241-12243)gaG>gaT	p.E4081D		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	4081					transport (GO:0006810)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)	p.E4026D(1)|p.E4081D(1)		breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						CTGTTCTGGAGGCCCATGATC	0.373																																						uc003toq.2																			2	Substitution - Missense(2)		lung(2)	ovary(5)|central_nervous_system(4)|skin(1)	10						c.(12241-12243)GAG>GAT		ATP binding cassette, sub-family A (ABC1),							29.0	28.0	28.0					7																	48451964		1839	4101	5940	SO:0001583	missense	154664				transport	integral to membrane	ATP binding|ATPase activity	g.chr7:48451964G>T	AY204751	CCDS47584.1	7p12.3	2012-03-14			ENSG00000179869	ENSG00000179869		"""ATP binding cassette transporters / subfamily A"""	14638	protein-coding gene	gene with protein product		607807				12697998	Standard	NM_152701		Approved	FLJ33876, FLJ33951	uc003toq.2	Q86UQ4	OTTHUMG00000155840	ENST00000435803.1:c.12243G>T	7.37:g.48451964G>T	ENSP00000411096:p.Glu4081Asp					ABCA13_uc010kys.1_Missense_Mutation_p.E1155D|ABCA13_uc010kyt.1_RNA	p.E4081D	NM_152701	NP_689914	Q86UQ4	ABCAD_HUMAN			41	12268	+			4081					K9LC76|K9LC79|K9LCX7|K9LDK8|K9LDY4|Q6ZTT7|Q86WI2|Q8N248	Missense_Mutation	SNP	ENST00000435803.1	37	c.12243G>T	CCDS47584.1	.	.	.	.	.	.	.	.	.	.	G	12.34	1.909280	0.33721	.	.	ENSG00000179869	ENST00000435803	D	0.86297	-2.1	4.98	3.14	0.36123	.	0.266343	0.26345	N	0.024914	T	0.80232	0.4585	N	0.14661	0.345	0.09310	N	0.999997	P;D	0.56521	0.494;0.976	B;P	0.50049	0.089;0.629	T	0.72040	-0.4410	10	0.59425	D	0.04	.	8.6224	0.33868	0.2679:0.0:0.7321:0.0	.	1783;4081	Q86UQ4-3;Q86UQ4	.;ABCAD_HUMAN	D	4081	ENSP00000411096:E4081D	ENSP00000411096:E4081D	E	+	3	2	ABCA13	48422510	0.038000	0.19896	0.002000	0.10522	0.524000	0.34500	0.704000	0.25661	0.475000	0.27415	0.555000	0.69702	GAG		PASS	0.373	ABCA13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341964.2	NM_152701		3	9	3	9	---	---	---	---
DDC	1644	broad.mit.edu	37	7	50530992	50530992	+	Silent	SNP	C	C	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr7:50530992C>A	ENST00000444124.2	-	14	1580	c.1380G>T	c.(1378-1380)gtG>gtT	p.V460V	DDC_ENST00000426377.1_Silent_p.V382V|DDC_ENST00000357936.5_Silent_p.V460V|DDC_ENST00000431062.1_Silent_p.V367V	NM_001082971.1	NP_001076440	P20711	DDC_HUMAN	dopa decarboxylase (aromatic L-amino acid decarboxylase)	460					catecholamine biosynthetic process (GO:0042423)|cellular amino acid metabolic process (GO:0006520)|cellular nitrogen compound metabolic process (GO:0034641)|cellular response to alkaloid (GO:0071312)|cellular response to drug (GO:0035690)|cellular response to growth factor stimulus (GO:0071363)|circadian rhythm (GO:0007623)|dopamine biosynthetic process (GO:0042416)|indolalkylamine biosynthetic process (GO:0046219)|isoquinoline alkaloid metabolic process (GO:0033076)|multicellular organismal aging (GO:0010259)|phytoalexin metabolic process (GO:0052314)|response to pyrethroid (GO:0046684)|serotonin biosynthetic process (GO:0042427)|small molecule metabolic process (GO:0044281)|synaptic vesicle amine transport (GO:0015842)	axon (GO:0030424)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|neuronal cell body (GO:0043025)|synaptic vesicle (GO:0008021)	amino acid binding (GO:0016597)|aromatic-L-amino-acid decarboxylase activity (GO:0004058)|enzyme binding (GO:0019899)|L-dopa decarboxylase activity (GO:0036468)|pyridoxal phosphate binding (GO:0030170)	p.V460V(1)		breast(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(23)|ovary(4)|skin(2)|stomach(1)	40	Glioma(55;0.08)|all_neural(89;0.245)				Amantadine(DB00915)|Carbidopa(DB00190)|Cycloserine(DB00260)|Droxidopa(DB06262)|Flupentixol(DB00875)|L-DOPA(DB01235)|L-Tryptophan(DB00150)|Methyldopa(DB00968)	AGGCCCGCTGCACATGGGCAG	0.572																																						uc003tpf.3																			1	Substitution - coding silent(1)		lung(1)	ovary(2)	2						c.(1378-1380)GTG>GTT		dopa decarboxylase (aromatic L-amino acid	Amantadine(DB00915)|Carbidopa(DB00190)|Flupenthixol(DB00875)|L-Tryptophan(DB00150)|Levodopa(DB01235)|Pimozide(DB01100)|Pyridoxal Phosphate(DB00114)|Remoxipride(DB00409)						99.0	84.0	89.0					7																	50530992		2203	4300	6503	SO:0001819	synonymous_variant	1644				cellular amino acid metabolic process|hormone biosynthetic process|neurotransmitter secretion	cytosol	aromatic-L-amino-acid decarboxylase activity|protein binding|pyridoxal phosphate binding	g.chr7:50530992C>A		CCDS5511.1, CCDS56485.1, CCDS56486.1, CCDS56487.1, CCDS75598.1, CCDS75599.1	7p12.1	2012-08-30			ENSG00000132437	ENSG00000132437	4.1.1.28		2719	protein-coding gene	gene with protein product		107930				1612608	Standard	NM_001082971		Approved	AADC	uc003tpf.4	P20711	OTTHUMG00000023353	ENST00000444124.2:c.1380G>T	7.37:g.50530992C>A						DDC_uc010kza.2_Silent_p.V375V|DDC_uc003tpg.3_Silent_p.V460V	p.V460V	NM_000790	NP_000781	P20711	DDC_HUMAN			14	1466	-	Glioma(55;0.08)|all_neural(89;0.245)		460					C9IYA0|E7ER62|E7EU95|Q16723|Q5W5T9|Q75MJ6	Silent	SNP	ENST00000444124.2	37	c.1380G>T	CCDS5511.1	.	.	.	.	.	.	.	.	.	.	C	0.522	-0.861832	0.02610	.	.	ENSG00000132437	ENST00000430300	.	.	.	5.44	2.64	0.31445	.	.	.	.	.	T	0.44582	0.1300	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.29579	-1.0007	4	.	.	.	-31.1401	2.5962	0.04855	0.105:0.3279:0.3706:0.1965	.	.	.	.	F	341	.	.	C	-	2	0	DDC	50498486	1.000000	0.71417	0.481000	0.27354	0.011000	0.07611	1.638000	0.37165	0.656000	0.30886	0.655000	0.94253	TGC		PASS	0.572	DDC-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342593.1			5	28	5	28	---	---	---	---
POM121L12	285877	broad.mit.edu	37	7	53103778	53103778	+	Silent	SNP	C	C	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr7:53103778C>A	ENST00000408890.4	+	1	430	c.414C>A	c.(412-414)acC>acA	p.T138T		NM_182595.3	NP_872401.3	Q8N7R1	P1L12_HUMAN	POM121 transmembrane nucleoporin-like 12	138								p.T138T(1)		endometrium(5)|kidney(1)|large_intestine(5)|lung(44)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	61						GCCCGGTGACCATCGGGATCG	0.711																																						uc003tpz.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(412-414)ACC>ACA		POM121 membrane glycoprotein-like 12							25.0	29.0	28.0					7																	53103778		1969	4116	6085	SO:0001819	synonymous_variant	285877							g.chr7:53103778C>A		CCDS43584.1	7p12.1	2012-03-13	2012-03-13		ENSG00000221900	ENSG00000221900			25369	protein-coding gene	gene with protein product			"""POM121 membrane glycoprotein-like 12"""				Standard	NM_182595		Approved	DKFZp564N2472	uc003tpz.3	Q8N7R1	OTTHUMG00000155995	ENST00000408890.4:c.414C>A	7.37:g.53103778C>A							p.T138T	NM_182595	NP_872401	Q8N7R1	P1L12_HUMAN			1	430	+			138					Q8NDI9	Silent	SNP	ENST00000408890.4	37	c.414C>A	CCDS43584.1																																																																																				PASS	0.711	POM121L12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342656.1	NM_182595		19	22	19	22	---	---	---	---
VSTM2A	222008	broad.mit.edu	37	7	54617857	54617857	+	Missense_Mutation	SNP	C	C	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr7:54617857C>A	ENST00000407838.3	+	4	1034	c.628C>A	c.(628-630)Caa>Aaa	p.Q210K	VSTM2A_ENST00000402613.3_Missense_Mutation_p.Q210K|VSTM2A_ENST00000498834.1_3'UTR|VSTM2A_ENST00000302287.3_Missense_Mutation_p.Q210K|VSTM2A_ENST00000404951.1_Missense_Mutation_p.Q210K|VSTM2A_ENST00000402026.2_Missense_Mutation_p.Q209K	NM_182546.2	NP_872352.2	Q8TAG5	VTM2A_HUMAN	V-set and transmembrane domain containing 2A	210						extracellular region (GO:0005576)		p.Q209K(1)|p.Q210K(1)		endometrium(1)|large_intestine(2)|lung(12)|prostate(1)	16			STAD - Stomach adenocarcinoma(5;0.0525)			ACAAAGTCCACAATCAGGTAT	0.493																																						uc010kzf.2																			2	Substitution - Missense(2)		lung(2)		0						c.(628-630)CAA>AAA		V-set and transmembrane domain containing 2							50.0	44.0	46.0					7																	54617857		2202	4296	6498	SO:0001583	missense	222008					extracellular region		g.chr7:54617857C>A	BC028404	CCDS5512.2, CCDS75604.1	7p11.2	2013-01-11	2007-08-10	2007-08-10	ENSG00000170419	ENSG00000170419		"""Immunoglobulin superfamily / V-set domain containing"""	28499	protein-coding gene	gene with protein product			"""V-set and transmembrane domain containing 2"""	VSTM2		12477932	Standard	XM_006715663		Approved	MGC33530	uc010kzf.3	Q8TAG5	OTTHUMG00000129271	ENST00000407838.3:c.628C>A	7.37:g.54617857C>A	ENSP00000384967:p.Gln210Lys					VSTM2A_uc010kze.2_Missense_Mutation_p.Q210K|VSTM2A_uc003tqc.3_Missense_Mutation_p.Q210K	p.Q210K	NM_182546	NP_872352	Q8TAG5	VTM2A_HUMAN	STAD - Stomach adenocarcinoma(5;0.0525)		4	1033	+			210					A4D2E9|B5MC94	Missense_Mutation	SNP	ENST00000407838.3	37	c.628C>A	CCDS5512.2	.	.	.	.	.	.	.	.	.	.	C	18.49	3.636331	0.67130	.	.	ENSG00000170419	ENST00000302287;ENST00000407838;ENST00000404951;ENST00000402026;ENST00000402613	T;T;T;T;T	0.44881	0.91;0.94;0.92;0.91;0.95	5.06	5.06	0.68205	.	0.184059	0.49916	D	0.000121	T	0.59376	0.2189	M	0.64997	1.995	0.30256	N	0.793654	D;D;D	0.67145	0.993;0.996;0.969	D;D;D	0.72982	0.952;0.979;0.93	T	0.58205	-0.7677	10	0.33141	T	0.24	-18.8376	14.2792	0.66200	0.0:1.0:0.0:0.0	.	210;210;210	Q8TAG5;Q8TAG5-2;B5MCX6	VTM2A_HUMAN;.;.	K	210;210;210;209;210	ENSP00000303108:Q210K;ENSP00000384967:Q210K;ENSP00000384701:Q210K;ENSP00000385933:Q209K;ENSP00000384103:Q210K	ENSP00000303108:Q210K	Q	+	1	0	VSTM2A	54585351	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	2.656000	0.46716	2.501000	0.84356	0.655000	0.94253	CAA		PASS	0.493	VSTM2A-003	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318694.1	NM_182546		3	5	3	5	---	---	---	---
WBSCR28	135886	broad.mit.edu	37	7	73279936	73279936	+	Missense_Mutation	SNP	G	G	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr7:73279936G>T	ENST00000320531.2	+	3	567	c.531G>T	c.(529-531)aaG>aaT	p.K177N		NM_182504.3	NP_872310.2	Q6UE05	WBS28_HUMAN	Williams-Beuren syndrome chromosome region 28	177						integral component of membrane (GO:0016021)		p.K177N(1)		breast(2)|kidney(2)|lung(6)|skin(1)	11		Lung NSC(55;0.159)				TGGTAAGGAAGCTCCTGGTAC	0.582																																						uc003tzk.2																			1	Substitution - Missense(1)		lung(1)	breast(1)	1						c.(529-531)AAG>AAT		hypothetical protein LOC135886							168.0	173.0	171.0					7																	73279936		2198	4293	6491	SO:0001583	missense	135886					integral to membrane		g.chr7:73279936G>T	BC030643	CCDS43597.1	7q11.23	2006-07-04			ENSG00000175877	ENSG00000175877			23018	protein-coding gene	gene with protein product		612547				8812460	Standard	NM_182504		Approved	MGC26719	uc003tzk.2	Q6UE05	OTTHUMG00000157243	ENST00000320531.2:c.531G>T	7.37:g.73279936G>T	ENSP00000316775:p.Lys177Asn					RFC2_uc011kfa.1_Intron|WBSCR28_uc003tzl.2_Missense_Mutation_p.K76N	p.K177N	NM_182504	NP_872310	Q6UE05	WBS28_HUMAN			3	567	+		Lung NSC(55;0.159)	177					Q6UE04|Q8NHP4	Missense_Mutation	SNP	ENST00000320531.2	37	c.531G>T	CCDS43597.1	.	.	.	.	.	.	.	.	.	.	G	8.731	0.916567	0.17907	.	.	ENSG00000175877	ENST00000320531	T	0.18657	2.2	3.46	2.55	0.30701	.	0.864933	0.09596	N	0.780884	T	0.10680	0.0261	N	0.08118	0	0.09310	N	1	B	0.22346	0.068	B	0.19148	0.024	T	0.26643	-1.0097	10	0.51188	T	0.08	-1.8106	6.0911	0.19995	0.1485:0.0:0.8515:0.0	.	177	Q6UE05	WBS28_HUMAN	N	177	ENSP00000316775:K177N	ENSP00000316775:K177N	K	+	3	2	WBSCR28	72917872	0.001000	0.12720	0.001000	0.08648	0.004000	0.04260	0.817000	0.27281	0.775000	0.33450	0.551000	0.68910	AAG		PASS	0.582	WBSCR28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348130.1	NM_182504		140	198	140	198	---	---	---	---
PTPN12	5782	broad.mit.edu	37	7	77210755	77210755	+	Nonsense_Mutation	SNP	C	C	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr7:77210755C>T	ENST00000248594.6	+	3	492	c.220C>T	c.(220-222)Cga>Tga	p.R74*	PTPN12_ENST00000435495.2_5'UTR|PTPN12_ENST00000415482.2_5'UTR	NM_002835.3	NP_002826.3	Q05209	PTN12_HUMAN	protein tyrosine phosphatase, non-receptor type 12	74	Tyrosine-protein phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00160}.				protein dephosphorylation (GO:0006470)|tissue regeneration (GO:0042246)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|plasma membrane (GO:0005886)|podosome (GO:0002102)	non-membrane spanning protein tyrosine phosphatase activity (GO:0004726)|SH3 domain binding (GO:0017124)	p.R74*(1)		breast(2)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(12)|lung(7)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1)	39						TGATCACAGCCGAGTTAAATT	0.313																																						uc003ugh.2																			1	Substitution - Nonsense(1)		lung(1)	ovary(1)|breast(1)|pancreas(1)	3						c.(220-222)CGA>TGA		protein tyrosine phosphatase, non-receptor type							71.0	71.0	71.0					7																	77210755		2200	4295	6495	SO:0001587	stop_gained	5782					soluble fraction	non-membrane spanning protein tyrosine phosphatase activity|SH3 domain binding	g.chr7:77210755C>T		CCDS5592.1, CCDS47619.1, CCDS47620.1	7q11.23	2011-06-09			ENSG00000127947	ENSG00000127947		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"""	9645	protein-coding gene	gene with protein product		600079				7509295	Standard	NM_002835		Approved	PTPG1, PTP-PEST	uc003ugh.2	Q05209	OTTHUMG00000023501	ENST00000248594.6:c.220C>T	7.37:g.77210755C>T	ENSP00000248594:p.Arg74*					PTPN12_uc011kgp.1_5'UTR|PTPN12_uc011kgq.1_5'UTR|PTPN12_uc010ldq.1_Intron|PTPN12_uc010ldr.1_Intron	p.R74*	NM_002835	NP_002826	Q05209	PTN12_HUMAN			3	311	+			74			Tyrosine-protein phosphatase.		A4D1C5|B4DKY2|E9PBR5|E9PEH9|Q16130|Q59FD6|Q75MN8|Q86XU4	Nonsense_Mutation	SNP	ENST00000248594.6	37	c.220C>T	CCDS5592.1	.	.	.	.	.	.	.	.	.	.	C	16.61	3.172336	0.57584	.	.	ENSG00000127947	ENST00000248594	.	.	.	5.84	2.93	0.34026	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	16.3136	0.82905	0.6311:0.3689:0.0:0.0	.	.	.	.	X	74	.	ENSP00000248594:R74X	R	+	1	2	PTPN12	77048691	0.881000	0.30235	0.997000	0.53966	0.913000	0.54294	-0.148000	0.10219	0.318000	0.23185	0.591000	0.81541	CGA		PASS	0.313	PTPN12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253183.3			22	97	22	97	---	---	---	---
MAGI2	9863	broad.mit.edu	37	7	77814960	77814960	+	Missense_Mutation	SNP	C	C	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr7:77814960C>A	ENST00000354212.4	-	13	2550	c.2297G>T	c.(2296-2298)cGa>cTa	p.R766L	MAGI2_ENST00000419488.1_Intron|MAGI2_ENST00000522391.1_Missense_Mutation_p.R766L	NM_012301.3	NP_036433.2	Q86UL8	MAGI2_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 2	766					cellular response to nerve growth factor stimulus (GO:1990090)|cytoplasmic transport (GO:0016482)|glomerular visceral epithelial cell development (GO:0072015)|mitotic cell cycle arrest (GO:0071850)|negative regulation of activin receptor signaling pathway (GO:0032926)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of protein kinase B signaling (GO:0051898)|nerve growth factor signaling pathway (GO:0038180)|planar cell polarity pathway involved in axis elongation (GO:0003402)|positive regulation of neuron projection development (GO:0010976)|positive regulation of phosphoprotein phosphatase activity (GO:0032516)|positive regulation of receptor internalization (GO:0002092)|protein heterooligomerization (GO:0051291)|receptor clustering (GO:0043113)|SMAD protein signal transduction (GO:0060395)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|late endosome (GO:0005770)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|protein complex (GO:0043234)|slit diaphragm (GO:0036057)|synapse (GO:0045202)|tight junction (GO:0005923)	beta-1 adrenergic receptor binding (GO:0031697)|phosphatase binding (GO:0019902)|receptor signaling complex scaffold activity (GO:0030159)|signal transducer activity (GO:0004871)|SMAD binding (GO:0046332)|type II activin receptor binding (GO:0070699)	p.R766L(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(37)|ovary(5)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(3)	84		all_cancers(73;0.0064)|all_epithelial(88;0.087)|all_neural(109;0.0936)|Medulloblastoma(109;0.166)|Melanoma(862;0.236)				GGAATCCATTCGAAAACTGGT	0.353																																						uc003ugx.2																			1	Substitution - Missense(1)		lung(1)	ovary(5)|lung(4)|breast(1)|skin(1)	11						c.(2296-2298)CGA>CTA		membrane associated guanylate kinase, WW and PDZ							114.0	112.0	113.0					7																	77814960		2203	4300	6503	SO:0001583	missense	9863					cell junction|synapse|synaptosome	phosphatase binding	g.chr7:77814960C>A	AB014605	CCDS5594.1, CCDS75623.1	7q21	2005-08-09			ENSG00000187391	ENSG00000187391			18957	protein-coding gene	gene with protein product		606382				10681527, 9734811	Standard	XM_005250725		Approved	AIP1, ARIP1, KIAA0705, ACVRIP1, MAGI-2	uc003ugx.3	Q86UL8	OTTHUMG00000130697	ENST00000354212.4:c.2297G>T	7.37:g.77814960C>A	ENSP00000346151:p.Arg766Leu					MAGI2_uc003ugy.2_Intron|MAGI2_uc010ldx.1_Intron|MAGI2_uc010ldy.1_Missense_Mutation_p.R375L	p.R766L	NM_012301	NP_036433	Q86UL8	MAGI2_HUMAN			13	2551	-		all_cancers(73;0.0064)|all_epithelial(88;0.087)|all_neural(109;0.0936)|Medulloblastoma(109;0.166)|Melanoma(862;0.236)	766					A4D1C1|A7E2C3|O60434|O60510|Q86UI7|Q9NP44|Q9UDQ5|Q9UDU1	Missense_Mutation	SNP	ENST00000354212.4	37	c.2297G>T	CCDS5594.1	.	.	.	.	.	.	.	.	.	.	C	17.36	3.368820	0.61624	.	.	ENSG00000187391	ENST00000354212;ENST00000536298;ENST00000522391	T;T	0.37235	1.21;1.21	6.02	6.02	0.97574	PDZ/DHR/GLGF (1);	0.000000	0.30483	U	0.009540	T	0.52741	0.1753	L	0.39898	1.24	0.80722	D	1	D;D	0.65815	0.962;0.995	D;D	0.70227	0.931;0.968	T	0.24512	-1.0158	10	0.27082	T	0.32	.	20.547	0.99278	0.0:1.0:0.0:0.0	.	766;766	B7Z4H4;Q86UL8	.;MAGI2_HUMAN	L	766	ENSP00000346151:R766L;ENSP00000428389:R766L	ENSP00000346151:R766L	R	-	2	0	MAGI2	77652896	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.677000	0.68142	2.850000	0.98022	0.650000	0.86243	CGA		PASS	0.353	MAGI2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253197.3	NM_012301		27	106	27	106	---	---	---	---
SEMA3C	10512	broad.mit.edu	37	7	80374286	80374286	+	Missense_Mutation	SNP	C	C	G			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr7:80374286C>G	ENST00000265361.3	-	18	2741	c.2180G>C	c.(2179-2181)gGg>gCg	p.G727A	SEMA3C_ENST00000544525.1_Missense_Mutation_p.G745A|SEMA3C_ENST00000419255.2_Missense_Mutation_p.G727A	NM_006379.3	NP_006370.1	Q99985	SEM3C_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3C	727	Arg/Lys-rich (basic).				axon guidance (GO:0007411)|blood vessel remodeling (GO:0001974)|cardiac right ventricle morphogenesis (GO:0003215)|dichotomous subdivision of terminal units involved in salivary gland branching (GO:0060666)|immune response (GO:0006955)|limb bud formation (GO:0060174)|neural crest cell migration (GO:0001755)|neural tube development (GO:0021915)|outflow tract morphogenesis (GO:0003151)|post-embryonic development (GO:0009791)|pulmonary myocardium development (GO:0003350)|response to drug (GO:0042493)|somitogenesis (GO:0001756)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	receptor activity (GO:0004872)	p.G727A(1)		NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	34						GCCATAGTCCCCTCTCATTTT	0.433																																						uc003uhj.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(2179-2181)GGG>GCG		semaphorin 3C precursor							153.0	141.0	145.0					7																	80374286		2203	4300	6503	SO:0001583	missense	10512				immune response|response to drug	membrane	receptor activity	g.chr7:80374286C>G	AB000220	CCDS5596.1	7q21-q31	2013-01-11			ENSG00000075223	ENSG00000075223		"""Semaphorins"", ""Immunoglobulin superfamily / I-set domain containing"""	10725	protein-coding gene	gene with protein product		602645		SEMAE		7748561, 9168980	Standard	NM_006379		Approved	SemE	uc003uhj.3	Q99985	OTTHUMG00000023447	ENST00000265361.3:c.2180G>C	7.37:g.80374286C>G	ENSP00000265361:p.Gly727Ala					SEMA3C_uc011kgw.1_Missense_Mutation_p.G745A	p.G727A	NM_006379	NP_006370	Q99985	SEM3C_HUMAN			18	2742	-			727			Arg/Lys-rich (basic).		B4DRL8	Missense_Mutation	SNP	ENST00000265361.3	37	c.2180G>C	CCDS5596.1	.	.	.	.	.	.	.	.	.	.	C	17.77	3.471203	0.63625	.	.	ENSG00000075223	ENST00000265361;ENST00000419255;ENST00000544525	T;T;T	0.25579	1.8;1.8;1.79	5.43	5.43	0.79202	.	0.000000	0.85682	D	0.000000	T	0.26159	0.0638	L	0.27053	0.805	0.80722	D	1	P;P	0.41978	0.767;0.656	P;B	0.47915	0.561;0.358	T	0.01259	-1.1403	10	0.07482	T	0.82	.	19.2296	0.93833	0.0:1.0:0.0:0.0	.	745;727	F5H1Z7;Q99985	.;SEM3C_HUMAN	A	727;727;745	ENSP00000265361:G727A;ENSP00000411193:G727A;ENSP00000445649:G745A	ENSP00000265361:G727A	G	-	2	0	SEMA3C	80212222	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	7.426000	0.80270	2.560000	0.86352	0.557000	0.71058	GGG		PASS	0.433	SEMA3C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253279.1	NM_006379		92	110	92	110	---	---	---	---
PCLO	27445	broad.mit.edu	37	7	82538238	82538238	+	Silent	SNP	C	C	G	rs78925303	byFrequency	TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr7:82538238C>G	ENST00000333891.9	-	8	13729	c.13392G>C	c.(13390-13392)ccG>ccC	p.P4464P	PCLO_ENST00000423517.2_Silent_p.P4464P	NM_033026.5	NP_149015.2			piccolo presynaptic cytomatrix protein									p.P4464P(2)		breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						CCAATCTTTCCGGCAGTTTTC	0.413																																						uc003uhx.2																			2	Substitution - coding silent(2)		lung(2)	ovary(7)	7						c.(13390-13392)CCG>CCC		piccolo isoform 1							121.0	113.0	115.0					7																	82538238		1881	4120	6001	SO:0001819	synonymous_variant	27445				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity	g.chr7:82538238C>G	AB011131	CCDS47630.1, CCDS47631.1	7q11.23-q21.3	2013-01-07	2013-01-07		ENSG00000186472	ENSG00000186472			13406	protein-coding gene	gene with protein product	"""aczonin"""	604918	"""piccolo (presynaptic cytomatrix protein)"""			8900486, 9628581	Standard	NM_014510		Approved	KIAA0559, DKFZp779G1236, ACZ	uc003uhx.2	Q9Y6V0	OTTHUMG00000154853	ENST00000333891.9:c.13392G>C	7.37:g.82538238C>G						PCLO_uc003uhv.2_Silent_p.P4464P	p.P4464P	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN			8	13681	-			4395						Silent	SNP	ENST00000333891.9	37	c.13392G>C	CCDS47630.1																																																																																				PASS	0.413	PCLO-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337368.5	NM_014510		41	77	41	77	---	---	---	---
PCLO	27445	broad.mit.edu	37	7	82544515	82544515	+	Missense_Mutation	SNP	C	C	T	rs61995909		TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr7:82544515C>T	ENST00000333891.9	-	7	13124	c.12787G>A	c.(12787-12789)Gga>Aga	p.G4263R	PCLO_ENST00000423517.2_Missense_Mutation_p.G4263R|PCLO_ENST00000437081.1_Missense_Mutation_p.G983R	NM_033026.5	NP_149015.2			piccolo presynaptic cytomatrix protein									p.G4263R(2)		breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						GTGCCCAGTCCTGTGCCAAGA	0.473																																						uc003uhx.2																			2	Substitution - Missense(2)		lung(2)	ovary(7)	7						c.(12787-12789)GGA>AGA		piccolo isoform 1							22.0	23.0	22.0					7																	82544515		1929	4139	6068	SO:0001583	missense	27445				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity	g.chr7:82544515C>T	AB011131	CCDS47630.1, CCDS47631.1	7q11.23-q21.3	2013-01-07	2013-01-07		ENSG00000186472	ENSG00000186472			13406	protein-coding gene	gene with protein product	"""aczonin"""	604918	"""piccolo (presynaptic cytomatrix protein)"""			8900486, 9628581	Standard	NM_014510		Approved	KIAA0559, DKFZp779G1236, ACZ	uc003uhx.2	Q9Y6V0	OTTHUMG00000154853	ENST00000333891.9:c.12787G>A	7.37:g.82544515C>T	ENSP00000334319:p.Gly4263Arg					PCLO_uc003uhv.2_Missense_Mutation_p.G4263R|PCLO_uc010lec.2_Missense_Mutation_p.G1228R	p.G4263R	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN			7	13076	-			4194						Missense_Mutation	SNP	ENST00000333891.9	37	c.12787G>A	CCDS47630.1	.	.	.	.	.	.	.	.	.	.	C	15.06	2.720190	0.48728	.	.	ENSG00000186472	ENST00000333891;ENST00000423517;ENST00000437081	T;T	0.17054	2.3;2.3	5.92	5.92	0.95590	.	.	.	.	.	T	0.17365	0.0417	L	0.54323	1.7	0.40291	D	0.978505	B;B;B	0.33940	0.024;0.433;0.433	B;B;B	0.30029	0.007;0.11;0.11	T	0.02098	-1.1214	9	0.87932	D	0	.	10.6445	0.45613	0.0:0.8583:0.0:0.1417	.	4194;4263;4263	Q9Y6V0;Q9Y6V0-5;Q9Y6V0-6	PCLO_HUMAN;.;.	R	4263;4263;983	ENSP00000334319:G4263R;ENSP00000388393:G4263R	ENSP00000334319:G4263R	G	-	1	0	PCLO	82382451	0.006000	0.16342	1.000000	0.80357	0.966000	0.64601	1.848000	0.39309	2.809000	0.96659	0.557000	0.71058	GGA		PASS	0.473	PCLO-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337368.5	NM_014510		4	31	4	31	---	---	---	---
SEMA3A	10371	broad.mit.edu	37	7	83590949	83590949	+	Missense_Mutation	SNP	C	C	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr7:83590949C>A	ENST00000265362.4	-	17	2368	c.2054G>T	c.(2053-2055)gGc>gTc	p.G685V	SEMA3A_ENST00000436949.1_Missense_Mutation_p.G685V	NM_006080.2	NP_006071.1	Q14563	SEM3A_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3A	685					apoptotic process (GO:0006915)|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)|dendrite morphogenesis (GO:0048813)|dichotomous subdivision of terminal units involved in salivary gland branching (GO:0060666)|facial nerve structural organization (GO:0021612)|gonadotrophin-releasing hormone neuronal migration to the hypothalamus (GO:0021828)|negative regulation of axon extension involved in axon guidance (GO:0048843)|negative regulation of epithelial cell migration (GO:0010633)|nerve development (GO:0021675)|neural crest cell migration involved in autonomic nervous system development (GO:1901166)|neural crest cell migration involved in sympathetic nervous system development (GO:1903045)|neuron migration (GO:0001764)|olfactory bulb development (GO:0021772)|positive regulation of male gonad development (GO:2000020)|positive regulation of neuron migration (GO:2001224)|regulation of axon extension involved in axon guidance (GO:0048841)|regulation of heart rate (GO:0002027)|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)|sensory system development (GO:0048880)|sympathetic ganglion development (GO:0061549)|sympathetic nervous system development (GO:0048485)|sympathetic neuron projection extension (GO:0097490)|sympathetic neuron projection guidance (GO:0097491)|trigeminal nerve structural organization (GO:0021637)	axon (GO:0030424)|dendrite (GO:0030425)|extracellular region (GO:0005576)|membrane (GO:0016020)	chemorepellent activity (GO:0045499)|neuropilin binding (GO:0038191)|receptor activity (GO:0004872)	p.G685V(1)		breast(3)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(1)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	53						GGTCTTAGAGCCATCTCCATC	0.433																																						uc003uhz.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|breast(1)|kidney(1)	4						c.(2053-2055)GGC>GTC		semaphorin 3A precursor							200.0	179.0	186.0					7																	83590949		2203	4300	6503	SO:0001583	missense	10371				axon guidance	extracellular region|membrane	receptor activity	g.chr7:83590949C>A	L26081	CCDS5599.1	7p12.1	2013-01-11			ENSG00000075213	ENSG00000075213		"""Semaphorins"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	10723	protein-coding gene	gene with protein product	"""sema III"""	603961		SEMAD		8269517, 7748561	Standard	NM_006080		Approved	SEMA1, SemD, coll-1, Hsema-I	uc003uhz.3	Q14563	OTTHUMG00000023443	ENST00000265362.4:c.2054G>T	7.37:g.83590949C>A	ENSP00000265362:p.Gly685Val						p.G685V	NM_006080	NP_006071	Q14563	SEM3A_HUMAN			17	2369	-			685						Missense_Mutation	SNP	ENST00000265362.4	37	c.2054G>T	CCDS5599.1	.	.	.	.	.	.	.	.	.	.	C	7.445	0.641441	0.14451	.	.	ENSG00000075213	ENST00000265362;ENST00000436949	T;T	0.27256	1.68;1.68	6.06	3.3	0.37823	.	0.417365	0.24539	N	0.037660	T	0.13670	0.0331	N	0.14661	0.345	0.53688	D	0.999974	B	0.02656	0.0	B	0.04013	0.001	T	0.07947	-1.0746	10	0.28530	T	0.3	.	8.8286	0.35069	0.0:0.6405:0.232:0.1275	.	685	Q14563	SEM3A_HUMAN	V	685	ENSP00000265362:G685V;ENSP00000415260:G685V	ENSP00000265362:G685V	G	-	2	0	SEMA3A	83428885	0.000000	0.05858	0.998000	0.56505	0.987000	0.75469	0.088000	0.14979	0.898000	0.36418	-0.150000	0.13652	GGC		PASS	0.433	SEMA3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253355.2	NM_006080		63	123	63	123	---	---	---	---
GRM3	2913	broad.mit.edu	37	7	86416245	86416245	+	Missense_Mutation	SNP	C	C	G			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr7:86416245C>G	ENST00000361669.2	+	3	2236	c.1137C>G	c.(1135-1137)atC>atG	p.I379M	AC005009.2_ENST00000418031.1_RNA|AC005009.2_ENST00000452471.1_RNA|GRM3_ENST00000439827.1_Missense_Mutation_p.I379M|GRM3_ENST00000394720.2_Missense_Mutation_p.I377M|GRM3_ENST00000546348.1_Intron|GRM3_ENST00000536043.1_Missense_Mutation_p.I251M	NM_000840.2	NP_000831.2	Q14832	GRM3_HUMAN	glutamate receptor, metabotropic 3	379					adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|negative regulation of adenylate cyclase activity (GO:0007194)|regulation of synaptic transmission, glutamatergic (GO:0051966)|synaptic transmission (GO:0007268)	astrocyte projection (GO:0097449)|axon (GO:0030424)|dendritic spine (GO:0043197)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)	calcium channel regulator activity (GO:0005246)|G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)|group II metabotropic glutamate receptor activity (GO:0001641)	p.I379M(1)		NS(2)|breast(6)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(43)|ovary(3)|pancreas(2)|prostate(4)|skin(25)|upper_aerodigestive_tract(5)	109	Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142)					ACCTGGCCATCGACAGCAGCA	0.567																																					GBM(52;969 1098 3139 52280)	uc003uid.2																			1	Substitution - Missense(1)		lung(1)	lung(4)|ovary(3)|central_nervous_system(2)|skin(2)|haematopoietic_and_lymphoid_tissue(1)|prostate(1)	13						c.(1135-1137)ATC>ATG		glutamate receptor, metabotropic 3 precursor	Acamprosate(DB00659)|Nicotine(DB00184)						126.0	105.0	112.0					7																	86416245		2203	4300	6503	SO:0001583	missense	2913				synaptic transmission	integral to plasma membrane		g.chr7:86416245C>G		CCDS5600.1	7q21.1-q21.2	2012-08-29			ENSG00000198822	ENSG00000198822		"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4595	protein-coding gene	gene with protein product		601115				8824806	Standard	NM_000840		Approved	GPRC1C, mGlu3, MGLUR3	uc003uid.3	Q14832	OTTHUMG00000022884	ENST00000361669.2:c.1137C>G	7.37:g.86416245C>G	ENSP00000355316:p.Ile379Met					GRM3_uc010lef.2_Missense_Mutation_p.I377M|GRM3_uc010leg.2_Missense_Mutation_p.I251M|GRM3_uc010leh.2_Intron	p.I379M	NM_000840	NP_000831	Q14832	GRM3_HUMAN			3	2236	+	Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142)		379			Extracellular (Potential).		Q2PNZ6|Q75MV4|Q75N17|Q86YG6|Q8TBH9	Missense_Mutation	SNP	ENST00000361669.2	37	c.1137C>G	CCDS5600.1	.	.	.	.	.	.	.	.	.	.	C	12.46	1.944376	0.34283	.	.	ENSG00000198822	ENST00000361669;ENST00000536043;ENST00000439827;ENST00000394720	D;D;D;D	0.86562	-2.14;-2.14;-2.14;-2.14	5.93	-3.95	0.04118	Extracellular ligand-binding receptor (1);	0.233996	0.48286	D	0.000194	T	0.77123	0.4084	L	0.41356	1.27	0.44539	D	0.997498	B;B;B	0.15141	0.006;0.012;0.003	B;B;B	0.28553	0.056;0.041;0.091	T	0.56396	-0.7986	10	0.87932	D	0	.	4.0469	0.09776	0.0953:0.4227:0.0937:0.3882	.	251;379;379	F5GYZ2;G5E9K2;Q14832	.;.;GRM3_HUMAN	M	379;251;379;377	ENSP00000355316:I379M;ENSP00000441407:I251M;ENSP00000398767:I379M;ENSP00000378209:I377M	ENSP00000355316:I379M	I	+	3	3	GRM3	86254181	0.408000	0.25360	0.929000	0.37066	0.995000	0.86356	-0.279000	0.08479	-0.678000	0.05224	-0.136000	0.14681	ATC		PASS	0.567	GRM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253362.2			30	83	30	83	---	---	---	---
RUNDC3B	154661	broad.mit.edu	37	7	87370833	87370833	+	Missense_Mutation	SNP	G	G	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr7:87370833G>T	ENST00000338056.3	+	7	1029	c.618G>T	c.(616-618)gaG>gaT	p.E206D	RUNDC3B_ENST00000394654.3_Missense_Mutation_p.E189D|RUNDC3B_ENST00000496000.1_3'UTR|RUNDC3B_ENST00000493037.1_Missense_Mutation_p.E189D	NM_001134405.1|NM_138290.2	NP_001127877.1|NP_612147.1	Q96NL0	RUN3B_HUMAN	RUN domain containing 3B	206	RUN. {ECO:0000255|PROSITE- ProRule:PRU00178}.		E -> G (in dbSNP:rs17852063). {ECO:0000269|PubMed:15489334}.					p.E206D(1)		breast(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(2)	26	Esophageal squamous(14;0.00164)					TAAAGGGAGAGGGGCTGGATG	0.289																																						uc003ujb.2																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(616-618)GAG>GAT		RUN domain containing 3B isoform a							67.0	65.0	66.0					7																	87370833		2203	4298	6501	SO:0001583	missense	154661							g.chr7:87370833G>T		CCDS5609.1, CCDS47635.1, CCDS47636.1	7q21.12	2009-01-14			ENSG00000105784	ENSG00000105784			30286	protein-coding gene	gene with protein product						12645870	Standard	NM_138290		Approved	RPIP9, RPIB9	uc003ujb.3	Q96NL0	OTTHUMG00000131035	ENST00000338056.3:c.618G>T	7.37:g.87370833G>T	ENSP00000337732:p.Glu206Asp					RUNDC3B_uc011khd.1_Missense_Mutation_p.E189D|RUNDC3B_uc011khe.1_Missense_Mutation_p.E189D|RUNDC3B_uc003ujc.2_Missense_Mutation_p.E189D|RUNDC3B_uc003ujd.2_Missense_Mutation_p.E111D	p.E206D	NM_138290	NP_612147	Q96NL0	RUN3B_HUMAN			7	1029	+	Esophageal squamous(14;0.00164)		206			RUN.		B4DFD0|E9PBR4|Q8IWW5|Q8NB55|Q8TBG7	Missense_Mutation	SNP	ENST00000338056.3	37	c.618G>T	CCDS5609.1	.	.	.	.	.	.	.	.	.	.	G	14.66	2.601867	0.46423	.	.	ENSG00000105784	ENST00000338056;ENST00000493037;ENST00000394654	T;T;T	0.11821	2.74;2.74;2.74	5.16	-5.54	0.02544	RUN (1);	0.095330	0.64402	D	0.000001	T	0.15869	0.0382	M	0.74467	2.265	0.45097	D	0.99811	B;B;B;B;B	0.20164	0.007;0.007;0.001;0.004;0.042	B;B;B;B;B	0.23852	0.004;0.004;0.004;0.006;0.049	T	0.03394	-1.1041	10	0.49607	T	0.09	-11.6149	14.7756	0.69729	0.6897:0.0:0.3103:0.0	.	189;189;111;189;206	E9PBR4;B4DFD0;Q96NL0-2;Q96NL0-4;Q96NL0	.;.;.;.;RUN3B_HUMAN	D	206;189;189	ENSP00000337732:E206D;ENSP00000420394:E189D;ENSP00000378149:E189D	ENSP00000337732:E206D	E	+	3	2	RUNDC3B	87208769	0.993000	0.37304	0.836000	0.33094	0.978000	0.69477	0.133000	0.15912	-1.316000	0.02295	0.655000	0.94253	GAG		PASS	0.289	RUNDC3B-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000253679.1	NM_138290		25	39	25	39	---	---	---	---
ZNF804B	219578	broad.mit.edu	37	7	88964054	88964054	+	Silent	SNP	A	A	G			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr7:88964054A>G	ENST00000333190.4	+	4	2367	c.1758A>G	c.(1756-1758)acA>acG	p.T586T		NM_181646.2	NP_857597.1	A4D1E1	Z804B_HUMAN	zinc finger protein 804B	586							metal ion binding (GO:0046872)	p.T586T(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)			ACCTCAACACATCTCTAAAGG	0.383										HNSCC(36;0.09)																												uc011khi.1																			1	Substitution - coding silent(1)		lung(1)	ovary(5)|skin(3)|pancreas(2)|upper_aerodigestive_tract(1)	11						c.(1756-1758)ACA>ACG		zinc finger protein 804B							49.0	52.0	51.0					7																	88964054		2200	4299	6499	SO:0001819	synonymous_variant	219578					intracellular	zinc ion binding	g.chr7:88964054A>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.1758A>G	7.37:g.88964054A>G		HNSCC(36;0.09)					p.T586T	NM_181646	NP_857597	A4D1E1	Z804B_HUMAN	STAD - Stomach adenocarcinoma(171;0.0513)		4	2296	+	all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151)		586					B2RTV2|Q7Z714|Q96MN7	Silent	SNP	ENST00000333190.4	37	c.1758A>G	CCDS5613.1																																																																																				PASS	0.383	ZNF804B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253683.2	NM_181646		35	72	35	72	---	---	---	---
CDK14	5218	broad.mit.edu	37	7	90613556	90613556	+	Splice_Site	SNP	G	G	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr7:90613556G>T	ENST00000380050.3	+	10	1172	c.1041G>T	c.(1039-1041)ctG>ctT	p.L347L	CDK14_ENST00000265741.3_Splice_Site_p.L329L|CDK14_ENST00000436577.2_Splice_Site_p.L218L|CDK14_ENST00000406263.1_Splice_Site_p.L301L			O94921	CDK14_HUMAN	cyclin-dependent kinase 14	347	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell division (GO:0051301)|G2/M transition of mitotic cell cycle (GO:0000086)|regulation of canonical Wnt signaling pathway (GO:0060828)|regulation of cell cycle (GO:0051726)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|cytoplasmic cyclin-dependent protein kinase holoenzyme complex (GO:0000308)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cyclin binding (GO:0030332)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)	p.L329L(1)|p.L347L(1)		breast(2)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|liver(1)|lung(12)|ovary(1)|skin(4)	32						GAATATTTCTGGTAAGTCCTT	0.343																																					GBM(83;1228 1256 8311 16577 31299)	uc003uky.2																			2	Substitution - coding silent(2)		lung(2)	lung(3)|ovary(1)	4						c.(1039-1041)CTG>CTT		PFTAIRE protein kinase 1							117.0	114.0	115.0					7																	90613556		2203	4300	6503	SO:0001630	splice_region_variant	5218				cell division|G2/M transition of mitotic cell cycle|regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	cytoplasmic cyclin-dependent protein kinase holoenzyme complex|nucleus|plasma membrane	ATP binding|cyclin binding|cyclin-dependent protein kinase activity	g.chr7:90613556G>T		CCDS5619.1, CCDS75626.1, CCDS75627.1, CCDS75628.1	7q21-q22	2011-11-08	2009-12-16	2009-12-16	ENSG00000058091	ENSG00000058091		"""Cyclin-dependent kinases"""	8883	protein-coding gene	gene with protein product		610679	"""PFTAIRE protein kinase 1"""	PFTK1		9202329, 11313143, 19884882	Standard	XM_005250436		Approved	PFTAIRE1	uc003ukz.1	O94921	OTTHUMG00000023649	ENST00000380050.3:c.1041+1G>T	7.37:g.90613556G>T						CDK14_uc003ukz.1_Silent_p.L329L|CDK14_uc010les.1_Silent_p.L301L|CDK14_uc011khl.1_Silent_p.L218L	p.L347L	NM_012395	NP_036527	O94921	CDK14_HUMAN			10	1263	+			347			Protein kinase.		A4D1E6|A6NK51|A8WFP6|B4DHG5|B4DNM2|Q75N06|Q75N22|Q8N764|Q9H3D7|Q9UDR0	Silent	SNP	ENST00000380050.3	37	c.1041G>T																																																																																					PASS	0.343	CDK14-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000059970.5	NM_012395	Silent	47	146	47	146	---	---	---	---
KRIT1	889	broad.mit.edu	37	7	91867069	91867069	+	Silent	SNP	T	T	C			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr7:91867069T>C	ENST00000340022.2	-	6	1285	c.267A>G	c.(265-267)aaA>aaG	p.K89K	KRIT1_ENST00000394507.1_Silent_p.K89K|KRIT1_ENST00000394505.2_Silent_p.K89K|KRIT1_ENST00000412043.2_Silent_p.K89K|KRIT1_ENST00000394503.2_Silent_p.K89K	NM_004912.3|NM_194455.1	NP_004903.2|NP_919437.1	O00522	KRIT1_HUMAN	KRIT1, ankyrin repeat containing	89	N-terminal domain similar to Nudix hydrolase domain.				angiogenesis (GO:0001525)|cell redox homeostasis (GO:0045454)|negative regulation of angiogenesis (GO:0016525)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of endothelial cell proliferation (GO:0001937)|positive regulation of protein binding (GO:0032092)|regulation of catalytic activity (GO:0050790)|regulation of establishment of cell polarity (GO:2000114)|small GTPase mediated signal transduction (GO:0007264)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|microtubule (GO:0005874)|plasma membrane (GO:0005886)	microtubule binding (GO:0008017)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|protein complex binding (GO:0032403)|small GTPase regulator activity (GO:0005083)	p.K89K(1)		autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(9)|ovary(2)|stomach(1)	22	all_cancers(62;1.04e-09)|all_epithelial(64;5.75e-09)|Breast(17;0.00206)|all_lung(186;0.0509)|Lung NSC(181;0.0692)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			GTACAACTCGTTTTCCTAATC	0.289																																						uc003ulq.1																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|lung(1)	3						c.(265-267)AAA>AAG		krev interaction trapped 1 isoform 1							57.0	56.0	57.0					7																	91867069		2201	4291	6492	SO:0001819	synonymous_variant	889	Familial_Cerebral_Cavernous_Angioma			angiogenesis|cell redox homeostasis|negative regulation of angiogenesis|negative regulation of endothelial cell apoptosis|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|regulation of establishment of cell polarity|small GTPase mediated signal transduction	cell-cell junction|cytoskeleton	protein binding|small GTPase regulator activity	g.chr7:91867069T>C	AJ294850	CCDS5624.1, CCDS34679.1	7q21.2	2014-09-17	2005-03-15	2005-03-17	ENSG00000001631	ENSG00000001631		"""Ankyrin repeat domain containing"""	1573	protein-coding gene	gene with protein product		604214	"""cerebral cavernous malformations 1"""	CCM1		7604043, 11342228	Standard	NM_194455		Approved	CAM	uc003ulu.1	O00522	OTTHUMG00000131187	ENST00000340022.2:c.267A>G	7.37:g.91867069T>C						KRIT1_uc010lev.1_5'UTR|KRIT1_uc003ulr.1_Silent_p.K89K|KRIT1_uc003uls.1_Silent_p.K89K|KRIT1_uc003ult.1_Silent_p.K89K|KRIT1_uc003ulu.1_Silent_p.K89K|KRIT1_uc003ulv.1_Silent_p.K89K	p.K89K	NM_194456	NP_919438	O00522	KRIT1_HUMAN	STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)		4	438	-	all_cancers(62;1.04e-09)|all_epithelial(64;5.75e-09)|Breast(17;0.00206)|all_lung(186;0.0509)|Lung NSC(181;0.0692)		89					A6NNU0|O43894|Q506L6|Q6U276|Q75N19|Q9H180|Q9H264|Q9HAX5	Silent	SNP	ENST00000340022.2	37	c.267A>G	CCDS5624.1																																																																																				PASS	0.289	KRIT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253910.1			15	70	15	70	---	---	---	---
HEPACAM2	253012	broad.mit.edu	37	7	92848547	92848547	+	Silent	SNP	G	G	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr7:92848547G>T	ENST00000394468.2	-	2	374	c.297C>A	c.(295-297)acC>acA	p.T99T	HEPACAM2_ENST00000440868.1_Silent_p.T87T|HEPACAM2_ENST00000341723.4_Silent_p.T87T|HEPACAM2_ENST00000453812.2_Silent_p.T122T	NM_001039372.1	NP_001034461.1	A8MVW5	HECA2_HUMAN	HEPACAM family member 2	99					centrosome organization (GO:0051297)|mitotic nuclear division (GO:0007067)	centrosome (GO:0005813)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|midbody (GO:0030496)|spindle (GO:0005819)		p.T87T(1)|p.T99T(1)		breast(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(12)|ovary(4)|skin(1)	28						GTGGCATCATGGTGAACTTGT	0.448																																						uc003umm.2																			2	Substitution - coding silent(2)		lung(2)	ovary(3)|breast(1)|kidney(1)	5						c.(295-297)ACC>ACA		HEPACAM family member 2 isoform 1							163.0	146.0	151.0					7																	92848547		2203	4300	6503	SO:0001819	synonymous_variant	253012					integral to membrane		g.chr7:92848547G>T	AK096002	CCDS5629.1, CCDS43616.1, CCDS75631.1, CCDS75632.1	7q21.3	2013-01-29	2008-07-11		ENSG00000188175	ENSG00000188175		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	27364	protein-coding gene	gene with protein product		614133				12975309	Standard	NM_001288804		Approved	FLJ38683	uc003umm.3	A8MVW5	OTTHUMG00000131732	ENST00000394468.2:c.297C>A	7.37:g.92848547G>T						HEPACAM2_uc003uml.2_Silent_p.T87T|HEPACAM2_uc010lff.2_Silent_p.T87T|HEPACAM2_uc011khy.1_Silent_p.T122T	p.T99T	NM_001039372	NP_001034461	A8MVW5	HECA2_HUMAN			2	320	-			99			Extracellular (Potential).		B3KTT4|B4DPJ1|B9EG93|E9PDV5|Q6UXI0	Silent	SNP	ENST00000394468.2	37	c.297C>A	CCDS43616.1																																																																																				PASS	0.448	HEPACAM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254651.1	NM_198151		47	51	47	51	---	---	---	---
SLC25A13	10165	broad.mit.edu	37	7	95775920	95775920	+	Missense_Mutation	SNP	C	C	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr7:95775920C>A	ENST00000265631.5	-	14	1536	c.1400G>T	c.(1399-1401)cGa>cTa	p.R467L	SLC25A13_ENST00000416240.2_Missense_Mutation_p.R468L|SLC25A13_ENST00000542654.1_Missense_Mutation_p.R359L			Q9UJS0	CMC2_HUMAN	solute carrier family 25 (aspartate/glutamate carrier), member 13	467					aspartate transport (GO:0015810)|ATP biosynthetic process (GO:0006754)|carbohydrate metabolic process (GO:0005975)|cellular respiration (GO:0045333)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|L-glutamate transport (GO:0015813)|malate-aspartate shuttle (GO:0043490)|response to calcium ion (GO:0051592)|small molecule metabolic process (GO:0044281)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	calcium ion binding (GO:0005509)|L-aspartate transmembrane transporter activity (GO:0015183)|L-glutamate transmembrane transporter activity (GO:0005313)|transporter activity (GO:0005215)	p.R467L(1)		breast(4)|central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(8)|liver(2)|lung(14)|prostate(1)|skin(4)	42	all_cancers(62;7.75e-08)|all_epithelial(64;1.16e-07)		STAD - Stomach adenocarcinoma(171;0.194)		L-Aspartic Acid(DB00128)	AGCACTGACTCGAGGACCAGT	0.423																																						uc003uof.3																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(3)|skin(1)	4						c.(1399-1401)CGA>CTA		solute carrier family 25, member 13 isoform 2	L-Aspartic Acid(DB00128)						124.0	143.0	136.0					7																	95775920		2203	4300	6503	SO:0001583	missense	10165				ATP biosynthetic process|gluconeogenesis|malate-aspartate shuttle|response to calcium ion	integral to plasma membrane|mitochondrial inner membrane	calcium ion binding|L-aspartate transmembrane transporter activity|L-glutamate transmembrane transporter activity	g.chr7:95775920C>A	AF118838	CCDS5645.1, CCDS55130.1	7q21.3	2013-05-22	2012-03-29		ENSG00000004864	ENSG00000004864		"""Solute carriers"", ""EF-hand domain containing"""	10983	protein-coding gene	gene with protein product	"""mitochondrial aspartate glutamate carrier 2"""	603859	"""solute carrier family 25, member 13 (citrin)"""	CTLN2		10369257	Standard	NM_014251		Approved	CITRIN, ARALAR2	uc003uog.4	Q9UJS0	OTTHUMG00000023074	ENST00000265631.5:c.1400G>T	7.37:g.95775920C>A	ENSP00000265631:p.Arg467Leu					SLC25A13_uc003uog.3_Missense_Mutation_p.R468L|SLC25A13_uc011kik.1_Missense_Mutation_p.R359L	p.R467L	NM_014251	NP_055066	Q9UJS0	CMC2_HUMAN	STAD - Stomach adenocarcinoma(171;0.194)		14	1591	-	all_cancers(62;7.75e-08)|all_epithelial(64;1.16e-07)		467			Solcar 2.		O14566|O14575|Q546F9|Q9NZW1|Q9UNI7	Missense_Mutation	SNP	ENST00000265631.5	37	c.1400G>T	CCDS5645.1	.	.	.	.	.	.	.	.	.	.	C	16.70	3.196973	0.58126	.	.	ENSG00000004864	ENST00000265631;ENST00000416240;ENST00000542654	T;T;T	0.76316	-1.01;-1.01;-1.01	4.63	2.81	0.32909	Mitochondrial carrier domain (2);	0.000000	0.64402	D	0.000002	T	0.73225	0.3560	N	0.16066	0.365	0.37982	D	0.933632	D;D;D	0.63046	0.99;0.992;0.992	P;D;D	0.64776	0.884;0.929;0.929	T	0.71471	-0.4583	10	0.30078	T	0.28	-7.6775	9.479	0.38889	0.1429:0.7826:0.0:0.0745	.	359;468;467	F5GX33;Q546F9;Q9UJS0	.;.;CMC2_HUMAN	L	467;468;359	ENSP00000265631:R467L;ENSP00000400101:R468L;ENSP00000440484:R359L	ENSP00000265631:R467L	R	-	2	0	SLC25A13	95613856	0.988000	0.35896	0.406000	0.26421	0.246000	0.25737	7.651000	0.83577	0.681000	0.31386	0.655000	0.94253	CGA		PASS	0.423	SLC25A13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059395.2	NM_014251		92	193	92	193	---	---	---	---
DLX5	1749	broad.mit.edu	37	7	96650126	96650126	+	Silent	SNP	G	G	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr7:96650126G>T	ENST00000222598.4	-	3	1265	c.792C>A	c.(790-792)gcC>gcA	p.A264A	DLX5_ENST00000493764.1_5'UTR	NM_005221.5	NP_005212.1	P56178	DLX5_HUMAN	distal-less homeobox 5	264					anatomical structure formation involved in morphogenesis (GO:0048646)|axon guidance (GO:0007411)|BMP signaling pathway (GO:0030509)|cell proliferation (GO:0008283)|cellular response to BMP stimulus (GO:0071773)|embryonic limb morphogenesis (GO:0030326)|endochondral ossification (GO:0001958)|epithelial cell differentiation (GO:0030855)|face morphogenesis (GO:0060325)|inner ear morphogenesis (GO:0042472)|nervous system development (GO:0007399)|olfactory pit development (GO:0060166)|osteoblast differentiation (GO:0001649)|palate development (GO:0060021)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of transcription from RNA polymerase II promoter involved in cellular response to chemical stimulus (GO:1901522)|positive regulation of transcription, DNA-templated (GO:0045893)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|transcription regulatory region DNA binding (GO:0044212)	p.A264A(1)		central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(9)|ovary(1)|prostate(1)	20	all_cancers(62;9.56e-09)|all_epithelial(64;7.38e-09)|Esophageal squamous(72;0.0125)|all_lung(186;0.0855)|Lung NSC(181;0.0858)					TGATTGAGCTGGCTGCACTTG	0.622																																						uc003uon.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(790-792)GCC>GCA		distal-less homeobox 5							63.0	63.0	63.0					7																	96650126		2203	4300	6503	SO:0001819	synonymous_variant	1749				cell proliferation|endochondral ossification|osteoblast differentiation|positive regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding	g.chr7:96650126G>T		CCDS5647.1	7q21.3	2011-06-20	2005-12-22		ENSG00000105880	ENSG00000105880		"""Homeoboxes / ANTP class : NKL subclass"""	2918	protein-coding gene	gene with protein product		600028	"""distal-less homeo box 5"""			7907794	Standard	XM_005250185		Approved		uc003uon.3	P56178	OTTHUMG00000154200	ENST00000222598.4:c.792C>A	7.37:g.96650126G>T							p.A264A	NM_005221	NP_005212	P56178	DLX5_HUMAN			3	1000	-	all_cancers(62;9.56e-09)|all_epithelial(64;7.38e-09)|Esophageal squamous(72;0.0125)|all_lung(186;0.0855)|Lung NSC(181;0.0858)		264					B7Z4P3|Q9UPL1	Silent	SNP	ENST00000222598.4	37	c.792C>A	CCDS5647.1																																																																																				PASS	0.622	DLX5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334371.2			31	43	31	43	---	---	---	---
CYP3A43	64816	broad.mit.edu	37	7	99459374	99459374	+	Missense_Mutation	SNP	C	C	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr7:99459374C>A	ENST00000354829.2	+	11	1268	c.1165C>A	c.(1165-1167)Ccc>Acc	p.P389T	CYP3A43_ENST00000312017.5_Missense_Mutation_p.P389T|CYP3A43_ENST00000444905.1_Missense_Mutation_p.P136T|CYP3A43_ENST00000415413.1_Missense_Mutation_p.P178T|CYP3A43_ENST00000222382.5_Missense_Mutation_p.P389T|CYP3A43_ENST00000477658.1_3'UTR|CYP3A43_ENST00000342499.4_Missense_Mutation_p.P249T|CYP3A43_ENST00000417625.1_Missense_Mutation_p.P279T	NM_022820.3|NM_057095.1	NP_073731.1|NP_476436.1	Q9HB55	CP343_HUMAN	cytochrome P450, family 3, subfamily A, polypeptide 43	389			Missing (in allele CYP3A43*2).		small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)	aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)	p.P389T(1)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|skin(1)	19	Esophageal squamous(72;0.0166)|Lung NSC(181;0.0211)|all_lung(186;0.0323)				Dexamethasone(DB01234)|Dolutegravir(DB08930)|Ethosuximide(DB00593)|Oxazepam(DB00842)|Phenelzine(DB00780)|Praziquantel(DB01058)|Rifampicin(DB01045)|Rifapentine(DB01201)|Testosterone(DB00624)|Troleandomycin(DB01361)|Zalcitabine(DB00943)	AGTGTTCATTCCCAAAGGGTT	0.453																																						uc003urx.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(1165-1167)CCC>ACC		cytochrome P450, family 3, subfamily A,	Cetirizine(DB00341)|Doxycycline(DB00254)						146.0	128.0	134.0					7																	99459374		2203	4300	6503	SO:0001583	missense	64816				xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding	g.chr7:99459374C>A	AF319634	CCDS5675.1, CCDS5676.1, CCDS5677.1, CCDS64723.1	7q21.1	2007-12-14	2003-01-14		ENSG00000021461	ENSG00000021461		"""Cytochrome P450s"""	17450	protein-coding gene	gene with protein product		606534	"""cytochrome P450, subfamily IIIA, polypeptide 43"""			11160876, 11266076	Standard	NM_022820		Approved		uc003ury.1	Q9HB55	OTTHUMG00000156498	ENST00000354829.2:c.1165C>A	7.37:g.99459374C>A	ENSP00000346887:p.Pro389Thr					CYP3A43_uc003ury.1_Missense_Mutation_p.P389T|CYP3A43_uc003urz.1_Missense_Mutation_p.P389T|CYP3A43_uc003usa.1_RNA|CYP3A43_uc010lgi.1_Missense_Mutation_p.P279T|CYP3A43_uc003usb.1_Missense_Mutation_p.P249T	p.P389T	NM_057095	NP_476436	Q9HB55	CP343_HUMAN			11	1268	+	Esophageal squamous(72;0.0166)|Lung NSC(181;0.0211)|all_lung(186;0.0323)		389		Missing (in allele CYP3A43*2).			Q495Y1|Q75MK2|Q75MK3|Q9HB52|Q9HB53|Q9HB54|Q9HB57	Missense_Mutation	SNP	ENST00000354829.2	37	c.1165C>A	CCDS5676.1	.	.	.	.	.	.	.	.	.	.	C	13.40	2.224898	0.39300	.	.	ENSG00000021461	ENST00000354829;ENST00000417625;ENST00000342499;ENST00000444905;ENST00000415413;ENST00000312017;ENST00000222382	T;T;T;T;D;T;T	0.86956	-1.08;-1.08;-1.08;-1.08;-2.19;-1.08;-1.08	2.71	2.71	0.32032	.	0.000000	0.85682	D	0.000000	D	0.94466	0.8219	H	0.94964	3.605	0.58432	D	0.999999	D;D;D;D;D	0.89917	1.0;1.0;1.0;0.999;0.993	D;D;D;D;D	0.91635	0.999;0.998;0.996;0.981;0.944	D	0.95044	0.8181	10	0.87932	D	0	.	11.5629	0.50788	0.0:1.0:0.0:0.0	.	279;249;389;389;389	Q495Y1;F8W6L8;Q9HB55-3;Q75MK2;Q9HB55	.;.;.;.;CP343_HUMAN	T	389;279;249;136;178;389;389	ENSP00000346887:P389T;ENSP00000416581:P279T;ENSP00000345351:P249T;ENSP00000405557:P136T;ENSP00000401521:P178T;ENSP00000312110:P389T;ENSP00000222382:P389T	ENSP00000222382:P389T	P	+	1	0	CYP3A43	99297310	1.000000	0.71417	0.992000	0.48379	0.039000	0.13416	6.937000	0.75898	1.821000	0.53095	0.404000	0.27445	CCC		PASS	0.453	CYP3A43-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000344379.1			61	95	61	95	---	---	---	---
ZNF3	7551	broad.mit.edu	37	7	99668855	99668855	+	Missense_Mutation	SNP	G	G	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr7:99668855G>T	ENST00000424697.1	-	6	1558	c.1252C>A	c.(1252-1254)Cac>Aac	p.H418N	ZNF3_ENST00000299667.4_Missense_Mutation_p.H418N|ZNF3_ENST00000413658.2_Intron|ZNF3_ENST00000303915.6_Missense_Mutation_p.H418N	NM_001278284.1|NM_001278287.1|NM_001278290.1|NM_001278291.1|NM_001278292.1|NM_032924.3	NP_001265213.1|NP_001265216.1|NP_001265219.1|NP_001265220.1|NP_001265221.1|NP_116313.3	P17036	ZNF3_HUMAN	zinc finger protein 3	418					cell differentiation (GO:0030154)|leukocyte activation (GO:0045321)|multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|zinc ion binding (GO:0008270)	p.H418N(1)		NS(1)|breast(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(8)|ovary(1)|skin(2)	25	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)	Ovarian(593;2.06e-05)|Myeloproliferative disorder(862;0.0122)|Breast(660;0.029)	STAD - Stomach adenocarcinoma(171;0.129)			TCTCCAGTGTGAATTCTCTGA	0.498																																						uc003usq.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1252-1254)CAC>AAC		zinc finger protein 3 isoform 2							109.0	120.0	116.0					7																	99668855		2182	4294	6476	SO:0001583	missense	7551				cell differentiation|leukocyte activation|multicellular organismal development	nucleus	DNA binding|identical protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr7:99668855G>T	AF027136	CCDS43618.1, CCDS43619.1	7q22.1	2013-01-08	2006-05-05					"""Zinc fingers, C2H2-type"", ""-"""	13089	protein-coding gene	gene with protein product		194510	"""zinc finger protein 3 (A8-51)"""				Standard	NM_032924		Approved	A8-51, KOX25, PP838, FLJ20216, HF.12, Zfp113	uc003usr.4	P17036		ENST00000424697.1:c.1252C>A	7.37:g.99668855G>T	ENSP00000415358:p.His418Asn					ZNF3_uc003usp.2_Intron|ZNF3_uc003usr.2_Missense_Mutation_p.H418N|ZNF3_uc010lgj.2_Missense_Mutation_p.H382N|ZNF3_uc003uss.2_Missense_Mutation_p.H425N|ZNF3_uc003ust.3_Missense_Mutation_p.H418N	p.H418N	NM_032924	NP_116313	P17036	ZNF3_HUMAN	STAD - Stomach adenocarcinoma(171;0.129)		6	1559	-	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)	Ovarian(593;2.06e-05)|Myeloproliferative disorder(862;0.0122)|Breast(660;0.029)	418			C2H2-type 8.		D6W5U0|P13683|Q9HBR4|Q9NNX8|Q9NXJ1|Q9UC15|Q9UC16	Missense_Mutation	SNP	ENST00000424697.1	37	c.1252C>A	CCDS43619.1	.	.	.	.	.	.	.	.	.	.	G	20.8	4.049905	0.75846	.	.	ENSG00000166526	ENST00000424697;ENST00000303915;ENST00000299667	T;T;T	0.28895	1.59;1.59;1.59	4.48	4.48	0.54585	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.241851	0.29579	N	0.011748	T	0.60353	0.2262	M	0.87900	2.915	0.50632	D	0.999881	D;D	0.69078	0.997;0.989	D;D	0.78314	0.99;0.991	T	0.68135	-0.5489	10	0.87932	D	0	-16.2695	15.0558	0.71912	0.0:0.0:1.0:0.0	.	401;418	B3KRP4;P17036	.;ZNF3_HUMAN	N	418	ENSP00000415358:H418N;ENSP00000306372:H418N;ENSP00000299667:H418N	ENSP00000299667:H418N	H	-	1	0	ZNF3	99506791	1.000000	0.71417	1.000000	0.80357	0.949000	0.60115	7.586000	0.82596	2.498000	0.84270	0.655000	0.94253	CAC		PASS	0.498	ZNF3-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336247.3	NM_017715		90	108	90	108	---	---	---	---
AP4M1	9179	broad.mit.edu	37	7	99701305	99701305	+	Missense_Mutation	SNP	G	G	C	rs549241595		TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr7:99701305G>C	ENST00000359593.4	+	6	691	c.533G>C	c.(532-534)cGc>cCc	p.R178P	AP4M1_ENST00000421755.1_Missense_Mutation_p.R178P|AP4M1_ENST00000422582.1_Missense_Mutation_p.R50P|AP4M1_ENST00000429084.1_Missense_Mutation_p.R185P|MCM7_ENST00000343023.6_5'Flank|MCM7_ENST00000354230.3_5'Flank|MCM7_ENST00000303887.5_5'Flank	NM_004722.3	NP_004713.2	O00189	AP4M1_HUMAN	adaptor-related protein complex 4, mu 1 subunit	178					Golgi to endosome transport (GO:0006895)|intracellular protein transport (GO:0006886)|vesicle-mediated transport (GO:0016192)	AP-type membrane coat adaptor complex (GO:0030119)|clathrin adaptor complex (GO:0030131)|coated pit (GO:0005905)|extracellular vesicular exosome (GO:0070062)|Golgi trans cisterna (GO:0000138)|trans-Golgi network (GO:0005802)	transporter activity (GO:0005215)	p.R178P(1)		breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|skin(1)	17	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					CTGTCCAGTCGCTCTGACCAG	0.587																																					Pancreas(174;1182 2812 29595 49511)	uc003utb.3																			1	Substitution - Missense(1)		lung(1)		0						c.(532-534)CGC>CCC		adaptor-related protein complex 4, mu 1 subunit							87.0	102.0	97.0					7																	99701305		2203	4300	6503	SO:0001583	missense	9179				intracellular protein transport|vesicle-mediated transport	clathrin adaptor complex|coated pit|Golgi trans cisterna	transporter activity	g.chr7:99701305G>C	Y08387	CCDS5685.1	7q22.1	2012-06-29			ENSG00000221838	ENSG00000221838			574	protein-coding gene	gene with protein product	"""mu-adaptin-related protein-2"", ""mu subunit of AP-4"", ""AP-4 adapter complex mu subunit"", ""adaptor-related protein complex AP-4 mu4 subunit"""	602296				9013859, 10066790, 21620353	Standard	NM_004722		Approved	MU-ARP2, MU-4, SPG50	uc003utb.4	O00189	OTTHUMG00000154722	ENST00000359593.4:c.533G>C	7.37:g.99701305G>C	ENSP00000352603:p.Arg178Pro					MCM7_uc003usv.1_5'Flank|MCM7_uc003usw.1_5'Flank|MCM7_uc003usx.1_5'Flank|AP4M1_uc011kjg.1_Missense_Mutation_p.R132P|AP4M1_uc010lgl.1_Missense_Mutation_p.R178P|AP4M1_uc003utc.3_Missense_Mutation_p.R185P|AP4M1_uc010lgm.2_Missense_Mutation_p.R50P|AP4M1_uc003utd.2_Missense_Mutation_p.R178P|AP4M1_uc011kjh.1_Missense_Mutation_p.R130P|AP4M1_uc003ute.3_5'UTR|AP4M1_uc003utf.3_Missense_Mutation_p.R50P	p.R178P	NM_004722	NP_004713	O00189	AP4M1_HUMAN			6	741	+	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)		178					D6W5U1|Q8WV65|Q9UHK9	Missense_Mutation	SNP	ENST00000359593.4	37	c.533G>C	CCDS5685.1	.	.	.	.	.	.	.	.	.	.	G	13.82	2.352280	0.41700	.	.	ENSG00000221838	ENST00000438383;ENST00000429084;ENST00000359593;ENST00000439416;ENST00000421755;ENST00000422582	T;T;T;T;T;T	0.18810	2.19;2.19;2.19;2.19;2.19;2.19	4.72	3.83	0.44106	Clathrin adaptor, mu subunit, C-terminal (2);	0.000000	0.85682	D	0.000000	T	0.39489	0.1080	L	0.60455	1.87	0.58432	D	0.999998	D;D;D;D	0.89917	0.999;1.0;1.0;0.999	D;D;D;D	0.79108	0.977;0.988;0.992;0.988	T	0.15321	-1.0441	10	0.56958	D	0.05	-4.3796	10.8737	0.46899	0.0929:0.0:0.9071:0.0	.	134;130;185;178	C9JMG3;B4DKN7;C9JC87;O00189	.;.;.;AP4M1_HUMAN	P	110;185;178;134;178;50	ENSP00000401613:R110P;ENSP00000403663:R185P;ENSP00000352603:R178P;ENSP00000414286:R134P;ENSP00000412185:R178P;ENSP00000406676:R50P	ENSP00000352603:R178P	R	+	2	0	AP4M1	99539241	1.000000	0.71417	1.000000	0.80357	0.878000	0.50629	3.114000	0.50383	1.187000	0.43000	0.462000	0.41574	CGC		PASS	0.587	AP4M1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336772.4	NM_004722		48	139	48	139	---	---	---	---
GAL3ST4	79690	broad.mit.edu	37	7	99757738	99757738	+	Missense_Mutation	SNP	C	C	T	rs199565529		TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr7:99757738C>T	ENST00000360039.4	-	4	1666	c.1274G>A	c.(1273-1275)cGc>cAc	p.R425H	GAL3ST4_ENST00000411994.1_3'UTR|GAL3ST4_ENST00000423751.1_3'UTR|C7orf43_ENST00000419841.1_5'Flank|C7orf43_ENST00000457641.1_5'Flank|GAL3ST4_ENST00000426974.2_Missense_Mutation_p.R363H|C7orf43_ENST00000316937.3_5'Flank|GAL3ST4_ENST00000413800.1_Missense_Mutation_p.R425H|C7orf43_ENST00000498638.1_5'Flank	NM_024637.4	NP_078913.3	Q96RP7	G3ST4_HUMAN	galactose-3-O-sulfotransferase 4	425					cell-cell signaling (GO:0007267)|glycoprotein metabolic process (GO:0009100)|oligosaccharide metabolic process (GO:0009311)|proteoglycan biosynthetic process (GO:0030166)|sulfur compound metabolic process (GO:0006790)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	3'-phosphoadenosine 5'-phosphosulfate binding (GO:0050656)|galactose 3-O-sulfotransferase activity (GO:0050694)|galactosylceramide sulfotransferase activity (GO:0001733)|proteoglycan sulfotransferase activity (GO:0050698)	p.R425H(1)		cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(8)|ovary(5)|prostate(1)|upper_aerodigestive_tract(1)	26	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					CTGGAAGGGGCGGAACCGGCG	0.582													C|||	1	0.000199681	0.0	0.0	5008	,	,		19515	0.001		0.0	False		,,,				2504	0.0					uc003utt.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)	3						c.(1273-1275)CGC>CAC		galactose-3-O-sulfotransferase 4							85.0	78.0	80.0					7																	99757738		2203	4300	6503	SO:0001583	missense	79690				cell-cell signaling|oligosaccharide metabolic process|proteoglycan biosynthetic process|sulfur compound metabolic process	Golgi cisterna membrane|integral to membrane|membrane fraction	3'-phosphoadenosine 5'-phosphosulfate binding|galactosylceramide sulfotransferase activity|proteoglycan sulfotransferase activity	g.chr7:99757738C>T	AF316113	CCDS5688.1	7q22.1	2007-04-02			ENSG00000197093	ENSG00000197093		"""Sulfotransferases, membrane-bound"""	24145	protein-coding gene	gene with protein product		608235				11333265	Standard	NM_024637		Approved	FLJ12116	uc003utu.3	Q96RP7	OTTHUMG00000154885	ENST00000360039.4:c.1274G>A	7.37:g.99757738C>T	ENSP00000353142:p.Arg425His					C7orf43_uc010lgp.2_5'Flank|C7orf43_uc011kjj.1_5'Flank|C7orf43_uc003utr.2_5'Flank|C7orf43_uc003uts.2_5'Flank|GAL3ST4_uc003utu.2_Missense_Mutation_p.R425H|GAL3ST4_uc010lgq.2_Missense_Mutation_p.R363H	p.R425H	NM_024637	NP_078913	Q96RP7	G3ST4_HUMAN			3	2291	-	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)		425			Lumenal (Potential).		A4D2A8|B4DWL8|D6W5U5|Q8N3P7|Q8WZ17|Q96E33|Q9HA78	Missense_Mutation	SNP	ENST00000360039.4	37	c.1274G>A	CCDS5688.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	25.0	4.596467	0.86953	.	.	ENSG00000197093	ENST00000413800;ENST00000360039;ENST00000426974	T;T;T	0.16073	2.37;2.37;2.37	5.92	5.92	0.95590	.	0.158975	0.34531	U	0.003896	T	0.43853	0.1266	M	0.71036	2.16	0.48762	D	0.9997	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.984	T	0.16335	-1.0406	10	0.62326	D	0.03	-9.1355	17.8145	0.88627	0.0:1.0:0.0:0.0	.	363;425	B4DWL8;Q96RP7	.;G3ST4_HUMAN	H	425;425;363	ENSP00000400451:R425H;ENSP00000353142:R425H;ENSP00000398304:R363H	ENSP00000353142:R425H	R	-	2	0	GAL3ST4	99595674	0.984000	0.35163	1.000000	0.80357	0.984000	0.73092	2.653000	0.46691	2.813000	0.96785	0.561000	0.74099	CGC		PASS	0.582	GAL3ST4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337495.2	NM_024637		25	98	25	98	---	---	---	---
PPP1R35	221908	broad.mit.edu	37	7	100033915	100033915	+	Missense_Mutation	SNP	G	G	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr7:100033915G>T	ENST00000292330.2	-	1	273	c.83C>A	c.(82-84)cCc>cAc	p.P28H	RP11-758P17.3_ENST00000475250.1_RNA|RP11-758P17.2_ENST00000492523.1_RNA|PPP1R35_ENST00000476185.1_5'Flank	NM_145030.2	NP_659467.1	Q8TAP8	PPR35_HUMAN	protein phosphatase 1, regulatory subunit 35	28	Pro-rich.				negative regulation of phosphatase activity (GO:0010923)		phosphatase binding (GO:0019902)|protein phosphatase inhibitor activity (GO:0004864)	p.P28H(1)									CGGGACTTGGGGCTCCGGGGG	0.721																																						uc003uuy.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(82-84)CCC>CAC		hypothetical protein LOC221908							8.0	11.0	10.0					7																	100033915		1957	4042	5999	SO:0001583	missense	221908							g.chr7:100033915G>T	BC026269	CCDS5694.1	7q22.1	2012-04-17	2011-10-11	2011-10-11	ENSG00000160813	ENSG00000160813		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	28320	protein-coding gene	gene with protein product			"""chromosome 7 open reading frame 47"""	C7orf47		12477932	Standard	NM_145030		Approved	MGC22793	uc003uuy.1	Q8TAP8	OTTHUMG00000159540	ENST00000292330.2:c.83C>A	7.37:g.100033915G>T	ENSP00000292330:p.Pro28His					C7orf47_uc003uux.1_5'UTR	p.P28H	NM_145030	NP_659467	Q8TAP8	CG047_HUMAN			1	180	-	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)		28			Pro-rich.		A4D2C5	Missense_Mutation	SNP	ENST00000292330.2	37	c.83C>A	CCDS5694.1	.	.	.	.	.	.	.	.	.	.	G	17.23	3.337477	0.60963	.	.	ENSG00000160813	ENST00000292330	.	.	.	4.97	4.97	0.65823	.	0.240272	0.29908	N	0.010893	T	0.71567	0.3355	L	0.60455	1.87	0.33998	D	0.649977	D	0.89917	1.0	D	0.91635	0.999	T	0.79759	-0.1668	9	0.72032	D	0.01	-18.2028	13.5943	0.61979	0.0:0.0:1.0:0.0	.	28	Q8TAP8	PPR35_HUMAN	H	28	.	ENSP00000292330:P28H	P	-	2	0	C7orf47	99871851	0.994000	0.37717	0.920000	0.36463	0.108000	0.19459	4.754000	0.62191	2.585000	0.87301	0.549000	0.68633	CCC		PASS	0.721	PPP1R35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356095.2	NM_145030		9	14	9	14	---	---	---	---
ZAN	7455	broad.mit.edu	37	7	100358100	100358100	+	RNA	SNP	G	G	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr7:100358100G>T	ENST00000348028.3	+	0	3948				ZAN_ENST00000349350.6_RNA|ZAN_ENST00000542585.1_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000449052.1_RNA			Q9Y493	ZAN_HUMAN	zonadhesin (gene/pseudogene)						binding of sperm to zona pellucida (GO:0007339)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.T1261T(2)		NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			AGCTGCAGACGGAGTTCGGTT	0.592																																						uc003uwj.2																			2	Substitution - coding silent(2)		lung(2)	ovary(4)|large_intestine(3)|central_nervous_system(2)|pancreas(2)	11						c.(3781-3783)ACG>ACT		zonadhesin isoform 3							101.0	113.0	109.0					7																	100358100		2160	4241	6401			7455				binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane		g.chr7:100358100G>T	U83191		7q22.1	2013-10-10	2013-10-10		ENSG00000146839	ENSG00000146839			12857	protein-coding gene	gene with protein product		602372	"""zonadhesin"""			9799793, 17033959	Standard	NM_003386		Approved		uc003uwk.3	Q9Y493	OTTHUMG00000157037		7.37:g.100358100G>T						ZAN_uc003uwk.2_Silent_p.T1261T|ZAN_uc003uwl.2_RNA|ZAN_uc010lhh.2_RNA|ZAN_uc010lhi.2_RNA|ZAN_uc011kkd.1_5'Flank	p.T1261T	NM_003386	NP_003377	Q9Y493	ZAN_HUMAN	STAD - Stomach adenocarcinoma(171;0.19)		19	3948	+	Lung NSC(181;0.041)|all_lung(186;0.0581)		1261			VWFD 1.|Extracellular (Potential).		A0FKC8|D6W5W4|O00218|Q96L85|Q96L86|Q96L87|Q96L88|Q96L89|Q96L90|Q9BXN9|Q9BZ83|Q9BZ84|Q9BZ85|Q9BZ86|Q9BZ87|Q9BZ88	Silent	SNP	ENST00000348028.3	37	c.3783G>T																																																																																					PASS	0.592	ZAN-006	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000347214.1	NM_003386		29	77	29	77	---	---	---	---
MUC17	140453	broad.mit.edu	37	7	100676657	100676657	+	Missense_Mutation	SNP	G	G	C			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr7:100676657G>C	ENST00000306151.4	+	3	2024	c.1960G>C	c.(1960-1962)Gtt>Ctt	p.V654L		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	654	59 X approximate tandem repeats.|Ser-rich.				cellular homeostasis (GO:0019725)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	apical plasma membrane (GO:0016324)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)	extracellular matrix constituent, lubricant activity (GO:0030197)|PDZ domain binding (GO:0030165)	p.V654L(1)		NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					AACAACTCCTGTTGACTCCAA	0.473																																						uc003uxp.1																			1	Substitution - Missense(1)		lung(1)	ovary(14)|skin(8)|breast(3)|lung(2)	27						c.(1960-1962)GTT>CTT		mucin 17 precursor							274.0	279.0	277.0					7																	100676657		2203	4300	6503	SO:0001583	missense	140453					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity	g.chr7:100676657G>C	AJ606307	CCDS34711.1	7q22	2007-01-17	2006-03-14		ENSG00000169876	ENSG00000169876		"""Mucins"""	16800	protein-coding gene	gene with protein product		608424				11855812	Standard	NM_001040105		Approved		uc003uxp.1	Q685J3	OTTHUMG00000157030	ENST00000306151.4:c.1960G>C	7.37:g.100676657G>C	ENSP00000302716:p.Val654Leu					MUC17_uc010lho.1_RNA	p.V654L	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN			3	2013	+	Lung NSC(181;0.136)|all_lung(186;0.182)		654			Extracellular (Potential).|8.|59 X approximate tandem repeats.|Ser-rich.		O14761|Q685J2|Q8TDH7	Missense_Mutation	SNP	ENST00000306151.4	37	c.1960G>C	CCDS34711.1	.	.	.	.	.	.	.	.	.	.	G	2.977	-0.211223	0.06140	.	.	ENSG00000169876	ENST00000306151	T	0.02446	4.29	1.22	-1.34	0.09143	.	.	.	.	.	T	0.01661	0.0053	N	0.12182	0.205	0.09310	N	1	B	0.06786	0.001	B	0.01281	0.0	T	0.47711	-0.9096	9	0.27082	T	0.32	.	5.2695	0.15617	0.5614:0.0:0.4386:0.0	.	654	Q685J3	MUC17_HUMAN	L	654	ENSP00000302716:V654L	ENSP00000302716:V654L	V	+	1	0	MUC17	100463377	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-1.048000	0.03517	-0.367000	0.08052	-0.531000	0.04308	GTT		PASS	0.473	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1	NM_001040105		93	220	93	220	---	---	---	---
MUC17	140453	broad.mit.edu	37	7	100677014	100677014	+	Missense_Mutation	SNP	G	G	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr7:100677014G>A	ENST00000306151.4	+	3	2381	c.2317G>A	c.(2317-2319)Gac>Aac	p.D773N		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	773	59 X approximate tandem repeats.|Ser-rich.				cellular homeostasis (GO:0019725)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	apical plasma membrane (GO:0016324)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)	extracellular matrix constituent, lubricant activity (GO:0030197)|PDZ domain binding (GO:0030165)	p.D773N(1)		NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					AACTCCTCTTGACACAAGCAC	0.478																																						uc003uxp.1																			1	Substitution - Missense(1)		lung(1)	ovary(14)|skin(8)|breast(3)|lung(2)	27						c.(2317-2319)GAC>AAC		mucin 17 precursor							278.0	281.0	280.0					7																	100677014		2203	4300	6503	SO:0001583	missense	140453					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity	g.chr7:100677014G>A	AJ606307	CCDS34711.1	7q22	2007-01-17	2006-03-14		ENSG00000169876	ENSG00000169876		"""Mucins"""	16800	protein-coding gene	gene with protein product		608424				11855812	Standard	NM_001040105		Approved		uc003uxp.1	Q685J3	OTTHUMG00000157030	ENST00000306151.4:c.2317G>A	7.37:g.100677014G>A	ENSP00000302716:p.Asp773Asn					MUC17_uc010lho.1_RNA	p.D773N	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN			3	2370	+	Lung NSC(181;0.136)|all_lung(186;0.182)		773			Extracellular (Potential).|Ser-rich.|10.|59 X approximate tandem repeats.		O14761|Q685J2|Q8TDH7	Missense_Mutation	SNP	ENST00000306151.4	37	c.2317G>A	CCDS34711.1	.	.	.	.	.	.	.	.	.	.	G	3.392	-0.124055	0.06795	.	.	ENSG00000169876	ENST00000306151	T	0.02890	4.12	0.932	-0.127	0.13510	.	.	.	.	.	T	0.01156	0.0038	N	0.14661	0.345	0.09310	N	1	P	0.47604	0.898	B	0.31686	0.134	T	0.45011	-0.9290	9	0.16896	T	0.51	.	2.5066	0.04646	0.2339:0.326:0.4402:0.0	.	773	Q685J3	MUC17_HUMAN	N	773	ENSP00000302716:D773N	ENSP00000302716:D773N	D	+	1	0	MUC17	100463734	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-0.450000	0.06803	-0.016000	0.14127	0.134000	0.15878	GAC		PASS	0.478	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1	NM_001040105		93	221	93	221	---	---	---	---
NAT16	375607	broad.mit.edu	37	7	100815508	100815508	+	Missense_Mutation	SNP	G	G	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr7:100815508G>T	ENST00000300303.2	-	4	1200	c.962C>A	c.(961-963)gCc>gAc	p.A321D	NAT16_ENST00000455377.1_Missense_Mutation_p.A321D	NM_198571.2	NP_940973.2	Q8N8M0	NAT16_HUMAN	N-acetyltransferase 16 (GCN5-related, putative)	321							N-acetyltransferase activity (GO:0008080)	p.A321D(1)									GAGGCGCGGGGCCTGGCGCTG	0.672																																						uc003uxy.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(961-963)GCC>GAC		hypothetical protein LOC375607							18.0	19.0	18.0					7																	100815508		2192	4289	6481	SO:0001583	missense	375607						N-acetyltransferase activity	g.chr7:100815508G>T	AK096556	CCDS5713.1	7q22.1	2011-11-25	2011-11-25	2011-11-25	ENSG00000167011	ENSG00000167011			22030	protein-coding gene	gene with protein product		615783	"""chromosome 7 open reading frame 52"""	C7orf52			Standard	NM_198571		Approved	FLJ39237	uc003uxy.2	Q8N8M0	OTTHUMG00000157110	ENST00000300303.2:c.962C>A	7.37:g.100815508G>T	ENSP00000300303:p.Ala321Asp					C7orf52_uc003uxz.1_Missense_Mutation_p.A321D	p.A321D	NM_198571	NP_940973	Q8N8M0	CG052_HUMAN			4	1201	-	Lung NSC(181;0.168)|all_lung(186;0.215)		321					B3KRS2|Q8NDR1	Missense_Mutation	SNP	ENST00000300303.2	37	c.962C>A	CCDS5713.1	.	.	.	.	.	.	.	.	.	.	G	13.98	2.397597	0.42512	.	.	ENSG00000167011	ENST00000300303;ENST00000455377	T;T	0.45668	0.89;0.89	4.09	-1.03	0.10102	.	0.181927	0.35646	U	0.003074	T	0.23688	0.0573	L	0.36672	1.1	0.31321	N	0.685967	P	0.36535	0.557	B	0.36186	0.219	T	0.26677	-1.0096	10	0.16420	T	0.52	.	4.801	0.13296	0.4837:0.162:0.3543:0.0	.	321	Q8N8M0	CG052_HUMAN	D	321	ENSP00000300303:A321D;ENSP00000395125:A321D	ENSP00000300303:A321D	A	-	2	0	C7orf52	100602228	0.760000	0.28428	0.004000	0.12327	0.986000	0.74619	1.329000	0.33770	-0.140000	0.11394	0.456000	0.33151	GCC		PASS	0.672	NAT16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347465.1	NM_198571		6	24	6	24	---	---	---	---
CUX1	1523	broad.mit.edu	37	7	101801838	101801838	+	Splice_Site	SNP	A	A	G			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr7:101801838A>G	ENST00000292535.7	+	9	712		c.e9-1		CUX1_ENST00000547394.2_Splice_Site|CUX1_ENST00000560541.1_Splice_Site|CUX1_ENST00000546411.2_Splice_Site|CUX1_ENST00000425244.2_Splice_Site|CUX1_ENST00000550008.2_Splice_Site|CUX1_ENST00000549414.2_Splice_Site|CUX1_ENST00000556210.1_Splice_Site|CUX1_ENST00000393824.3_Splice_Site|CUX1_ENST00000292538.4_Splice_Site|CUX1_ENST00000360264.3_Splice_Site|CUX1_ENST00000437600.4_Splice_Site	NM_181552.3	NP_853530.2	P39880	CUX1_HUMAN	cut-like homeobox 1						auditory receptor cell differentiation (GO:0042491)|kidney development (GO:0001822)|lung development (GO:0030324)|multicellular organismal development (GO:0007275)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of dendrite morphogenesis (GO:0050775)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|retrograde transport, vesicle recycling within Golgi (GO:0000301)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi membrane (GO:0000139)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|sequence-specific DNA binding (GO:0043565)	p.?(2)		breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(8)|lung(26)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|stomach(1)|urinary_tract(5)	70						TCACCCTCCTAGGGCCGACGA	0.572																																						uc003uyx.3																			2	Unknown(2)		lung(2)	ovary(5)|pancreas(1)|central_nervous_system(1)|skin(1)	8						c.e9-2		cut-like homeobox 1 isoform a							85.0	76.0	79.0					7																	101801838		2203	4300	6503	SO:0001630	splice_region_variant	1523				negative regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr7:101801838A>G	M74099	CCDS5720.1, CCDS5721.1, CCDS47672.1, CCDS56498.1, CCDS56499.1, CCDS56500.1, CCDS59071.1	7q22.1	2012-10-03	2007-11-07	2007-11-07	ENSG00000257923	ENSG00000257923		"""Homeoboxes / CUT class"""	2557	protein-coding gene	gene with protein product	"""golgi integral membrane protein 6"""	116896	"""cut (Drosophila)-like 1 (CCAAT displacement protein)"", ""cut-like 1, CCAAT displacement protein (Drosophila)"""	CUTL1		8468066, 9799793, 15004235	Standard	NM_001202543		Approved	CDP, CDP1, CUX, CUT, Clox, CDP/Cut, CDP/Cux, Cux/CDP, CASP, GOLIM6	uc003uyx.4	P39880	OTTHUMG00000157129	ENST00000292535.7:c.675-1A>G	7.37:g.101801838A>G						CUX1_uc003uys.3_Splice_Site_p.K236_splice|CUX1_uc003uyt.2_Splice_Site_p.K236_splice|CUX1_uc011kkn.1_Splice_Site_p.K199_splice|CUX1_uc003uyw.2_Splice_Site_p.K190_splice|CUX1_uc003uyv.2_Splice_Site_p.K220_splice|CUX1_uc003uyu.2_Splice_Site_p.K236_splice	p.K225_splice	NM_181552	NP_853530	P39880	CUX1_HUMAN			9	713	+								B3KV79|J3KQV9|Q6NYH4|Q75LE5|Q75MT2|Q75MT3|Q86UJ7|Q9UEV5	Splice_Site	SNP	ENST00000292535.7	37	c.675_splice	CCDS5721.1	.	.	.	.	.	.	.	.	.	.	A	21.2	4.109385	0.77096	.	.	ENSG00000257923	ENST00000292538;ENST00000547394;ENST00000360264;ENST00000425244;ENST00000437600;ENST00000292535;ENST00000549414;ENST00000550008;ENST00000546411;ENST00000556210	.	.	.	5.32	5.32	0.75619	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.6554	0.56784	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	CUX1	101588558	1.000000	0.71417	0.907000	0.35723	0.954000	0.61252	5.940000	0.70187	2.010000	0.58986	0.460000	0.39030	.		PASS	0.572	CUX1-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000347535.1	NM_001913	Intron	20	54	20	54	---	---	---	---
RELN	5649	broad.mit.edu	37	7	103207056	103207056	+	Missense_Mutation	SNP	G	G	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr7:103207056G>A	ENST00000428762.1	-	32	4898	c.4739C>T	c.(4738-4740)cCg>cTg	p.P1580L	RELN_ENST00000424685.2_Missense_Mutation_p.P1580L|RELN_ENST00000343529.5_Missense_Mutation_p.P1580L	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN	reelin	1580					associative learning (GO:0008306)|axon guidance (GO:0007411)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cell morphogenesis involved in differentiation (GO:0000904)|central nervous system development (GO:0007417)|cerebral cortex tangential migration (GO:0021800)|dendrite development (GO:0016358)|glial cell differentiation (GO:0010001)|hippocampus development (GO:0021766)|lateral motor column neuron migration (GO:0097477)|layer formation in cerebral cortex (GO:0021819)|long-term memory (GO:0007616)|N-methyl-D-aspartate receptor clustering (GO:0097114)|neuron migration (GO:0001764)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000969)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of dendritic spine morphogenesis (GO:0061003)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of lateral motor column neuron migration (GO:1902078)|positive regulation of long-term synaptic potentiation (GO:1900273)|positive regulation of neuron projection development (GO:0010976)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of small GTPase mediated signal transduction (GO:0051057)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of TOR signaling (GO:0032008)|postsynaptic density protein 95 clustering (GO:0097119)|receptor localization to synapse (GO:0097120)|reelin-mediated signaling pathway (GO:0038026)|regulation of behavior (GO:0050795)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of synaptic transmission (GO:0050804)|response to pain (GO:0048265)|spinal cord patterning (GO:0021511)|ventral spinal cord development (GO:0021517)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	lipoprotein particle receptor binding (GO:0070325)|metal ion binding (GO:0046872)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|serine-type peptidase activity (GO:0008236)|very-low-density lipoprotein particle receptor binding (GO:0070326)	p.P1580L(1)		NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		ACCATGTTGCGGTTGCCACCA	0.483																																					NSCLC(146;835 1944 15585 22231 52158)	uc003vca.2																			1	Substitution - Missense(1)		lung(1)	ovary(8)|upper_aerodigestive_tract(5)|large_intestine(2)|central_nervous_system(2)|skin(1)|pancreas(1)	19						c.(4738-4740)CCG>CTG		reelin isoform a							123.0	107.0	113.0					7																	103207056		2203	4300	6503	SO:0001583	missense	5649				axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity	g.chr7:103207056G>A		CCDS34722.1, CCDS47680.1	7q22	2008-07-18			ENSG00000189056	ENSG00000189056			9957	protein-coding gene	gene with protein product		600514				9049633	Standard	NM_005045		Approved	RL, PRO1598	uc010liz.3	P78509	OTTHUMG00000157247	ENST00000428762.1:c.4739C>T	7.37:g.103207056G>A	ENSP00000392423:p.Pro1580Leu					RELN_uc010liz.2_Missense_Mutation_p.P1580L	p.P1580L	NM_005045	NP_005036	P78509	RELN_HUMAN		COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)	32	4899	-			1580					A4D0P9|A4D0Q0|Q86UJ0|Q86UJ8|Q8NDV0|Q9UDQ2	Missense_Mutation	SNP	ENST00000428762.1	37	c.4739C>T	CCDS47680.1	.	.	.	.	.	.	.	.	.	.	G	18.68	3.675540	0.67928	.	.	ENSG00000189056	ENST00000428762;ENST00000343529;ENST00000424685;ENST00000448171	T;T;T	0.41065	1.01;1.69;1.01	5.95	5.95	0.96441	.	0.000000	0.85682	D	0.000000	T	0.68641	0.3023	M	0.80422	2.495	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.998;1.0	T	0.65170	-0.6233	10	0.37606	T	0.19	.	20.3719	0.98893	0.0:0.0:1.0:0.0	.	1580;1580	P78509-2;P78509	.;RELN_HUMAN	L	1580	ENSP00000392423:P1580L;ENSP00000345694:P1580L;ENSP00000388446:P1580L	ENSP00000345694:P1580L	P	-	2	0	RELN	102994292	1.000000	0.71417	0.856000	0.33681	0.630000	0.37929	9.209000	0.95087	2.826000	0.97356	0.491000	0.48974	CCG		PASS	0.483	RELN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000348148.1	NM_005045		32	57	32	57	---	---	---	---
PIK3CG	5294	broad.mit.edu	37	7	106509447	106509447	+	Missense_Mutation	SNP	G	G	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr7:106509447G>T	ENST00000359195.3	+	2	1751	c.1441G>T	c.(1441-1443)Gtc>Ttc	p.V481F	PIK3CG_ENST00000496166.1_Missense_Mutation_p.V481F|PIK3CG_ENST00000440650.2_Missense_Mutation_p.V481F	NM_001282427.1|NM_002649.2	NP_001269356.1|NP_002640.2	P48736	PK3CG_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma	481	C2 PI3K-type. {ECO:0000255|PROSITE- ProRule:PRU00880}.				adaptive immune response (GO:0002250)|angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cytokine production (GO:0001816)|dendritic cell chemotaxis (GO:0002407)|endocytosis (GO:0006897)|G-protein coupled receptor signaling pathway (GO:0007186)|hepatocyte apoptotic process (GO:0097284)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|mast cell degranulation (GO:0043303)|natural killer cell chemotaxis (GO:0035747)|negative regulation of cardiac muscle contraction (GO:0055118)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of triglyceride catabolic process (GO:0010897)|neutrophil chemotaxis (GO:0030593)|neutrophil extravasation (GO:0072672)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|positive regulation of acute inflammatory response (GO:0002675)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein kinase B signaling (GO:0051897)|regulation of cell adhesion mediated by integrin (GO:0033628)|respiratory burst involved in defense response (GO:0002679)|secretory granule localization (GO:0032252)|small molecule metabolic process (GO:0044281)|T cell activation (GO:0042110)|T cell chemotaxis (GO:0010818)|T cell proliferation (GO:0042098)	1-phosphatidylinositol-4-phosphate 3-kinase, class IB complex (GO:0005944)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|mast cell granule (GO:0042629)|membrane (GO:0016020)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|ephrin receptor binding (GO:0046875)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.V481F(1)		breast(7)|central_nervous_system(9)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(16)|liver(4)|lung(59)|ovary(4)|pancreas(4)|prostate(3)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	132						TGGAGAATACGTCCTCCACAT	0.502																																						uc003vdv.3																			1	Substitution - Missense(1)		lung(1)	lung(16)|central_nervous_system(8)|breast(5)|pancreas(3)|stomach(2)|ovary(2)|upper_aerodigestive_tract(1)|skin(1)	38						c.(1441-1443)GTC>TTC		phosphoinositide-3-kinase, catalytic, gamma							140.0	129.0	133.0					7																	106509447		2203	4300	6503	SO:0001583	missense	5294				G-protein coupled receptor protein signaling pathway|phosphatidylinositol-mediated signaling|platelet activation	phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity|protein binding	g.chr7:106509447G>T		CCDS5739.1	7q22	2012-07-13	2012-07-13		ENSG00000105851	ENSG00000105851	2.7.1.153		8978	protein-coding gene	gene with protein product		601232	"""phosphoinositide-3-kinase, catalytic, gamma polypeptide"""				Standard	XM_005250443		Approved		uc003vdw.3	P48736	OTTHUMG00000157641	ENST00000359195.3:c.1441G>T	7.37:g.106509447G>T	ENSP00000352121:p.Val481Phe					PIK3CG_uc003vdu.2_Missense_Mutation_p.V481F|PIK3CG_uc003vdw.2_Missense_Mutation_p.V481F	p.V481F	NM_002649	NP_002640	P48736	PK3CG_HUMAN			2	1526	+			481					A4D0Q6|Q8IV23|Q9BZC8	Missense_Mutation	SNP	ENST00000359195.3	37	c.1441G>T	CCDS5739.1	.	.	.	.	.	.	.	.	.	.	G	18.58	3.654929	0.67472	.	.	ENSG00000105851	ENST00000440650;ENST00000496166;ENST00000359195	T;T;T	0.76968	-1.06;-1.06;-1.06	6.02	6.02	0.97574	C2 calcium/lipid-binding domain, CaLB (1);Phosphoinositide 3-kinase, C2 (1);	0.050834	0.85682	D	0.000000	T	0.75627	0.3875	L	0.54323	1.7	0.80722	D	1	B	0.23249	0.082	B	0.30105	0.111	T	0.69525	-0.5122	10	0.08381	T	0.77	-28.8333	20.5407	0.99260	0.0:0.0:1.0:0.0	.	481	P48736	PK3CG_HUMAN	F	481	ENSP00000392258:V481F;ENSP00000419260:V481F;ENSP00000352121:V481F	ENSP00000352121:V481F	V	+	1	0	PIK3CG	106296683	1.000000	0.71417	0.998000	0.56505	0.989000	0.77384	6.040000	0.70980	2.865000	0.98341	0.655000	0.94253	GTC		PASS	0.502	PIK3CG-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349294.1			24	99	24	99	---	---	---	---
SLC26A3	1811	broad.mit.edu	37	7	107418651	107418651	+	Missense_Mutation	SNP	G	G	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr7:107418651G>T	ENST00000340010.5	-	13	1667	c.1483C>A	c.(1483-1485)Caa>Aaa	p.Q495K	SLC26A3_ENST00000422236.2_Missense_Mutation_p.Q460K	NM_000111.2	NP_000102.1	P40879	S26A3_HUMAN	solute carrier family 26 (anion exchanger), member 3	495					anion transport (GO:0006820)|cellular response to cAMP (GO:0071320)|excretion (GO:0007588)|intracellular pH elevation (GO:0051454)|ion transport (GO:0006811)|membrane hyperpolarization (GO:0060081)|regulation of RNA biosynthetic process (GO:2001141)|regulation of transcription, DNA-templated (GO:0006355)|sperm capacitation (GO:0048240)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|sperm midpiece (GO:0097225)	anion:anion antiporter activity (GO:0015301)|bicarbonate transmembrane transporter activity (GO:0015106)|chloride transmembrane transporter activity (GO:0015108)|secondary active sulfate transmembrane transporter activity (GO:0008271)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription cofactor activity (GO:0003712)|transporter activity (GO:0005215)	p.Q495K(1)		breast(1)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(18)|ovary(4)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	46						GTTAGCAGTTGAAATGCCACA	0.468																																						uc003ver.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|skin(1)	4						c.(1483-1485)CAA>AAA		solute carrier family 26, member 3							101.0	79.0	86.0					7																	107418651		2203	4300	6503	SO:0001583	missense	1811				excretion	integral to membrane|membrane fraction	inorganic anion exchanger activity|secondary active sulfate transmembrane transporter activity|sequence-specific DNA binding transcription factor activity|transcription cofactor activity	g.chr7:107418651G>T	L02785	CCDS5748.1	7q31	2014-09-17	2013-07-18		ENSG00000091138	ENSG00000091138		"""Solute carriers"""	3018	protein-coding gene	gene with protein product		126650	"""congenital chloride diarrhea"", ""solute carrier family 26, member 3"""	DRA, CLD		8020951, 11087667	Standard	NM_000111		Approved		uc003ver.2	P40879	OTTHUMG00000154812	ENST00000340010.5:c.1483C>A	7.37:g.107418651G>T	ENSP00000345873:p.Gln495Lys					SLC26A3_uc003ves.2_Missense_Mutation_p.Q460K	p.Q495K	NM_000111	NP_000102	P40879	S26A3_HUMAN			13	1694	-			495						Missense_Mutation	SNP	ENST00000340010.5	37	c.1483C>A	CCDS5748.1	.	.	.	.	.	.	.	.	.	.	G	15.91	2.973725	0.53720	.	.	ENSG00000091138	ENST00000422236;ENST00000340010	D;D	0.92805	-3.09;-3.11	5.81	4.92	0.64577	.	0.098174	0.64402	D	0.000002	D	0.90892	0.7138	L	0.44542	1.39	0.31585	N	0.654598	P;B	0.41420	0.749;0.215	B;B	0.44108	0.441;0.071	D	0.91810	0.5459	10	0.72032	D	0.01	.	16.9709	0.86298	0.0:0.4444:0.5556:0.0	.	460;495	G5E9U3;P40879	.;S26A3_HUMAN	K	460;495	ENSP00000415817:Q460K;ENSP00000345873:Q495K	ENSP00000345873:Q495K	Q	-	1	0	SLC26A3	107205887	0.999000	0.42202	0.996000	0.52242	0.924000	0.55760	2.745000	0.47459	1.419000	0.47118	0.655000	0.94253	CAA		PASS	0.468	SLC26A3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337190.1	NM_000111		7	18	7	18	---	---	---	---
PNPLA8	50640	broad.mit.edu	37	7	108142935	108142935	+	Splice_Site	SNP	C	C	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr7:108142935C>A	ENST00000422087.1	-	6	1764	c.1358G>T	c.(1357-1359)aGg>aTg	p.R453M	PNPLA8_ENST00000436062.1_Splice_Site_p.R453M|PNPLA8_ENST00000426128.2_Splice_Site_p.R453M|PNPLA8_ENST00000483879.1_5'UTR|PNPLA8_ENST00000388728.5_Splice_Site_p.R453M|PNPLA8_ENST00000453144.1_Splice_Site_p.R353M|PNPLA8_ENST00000257694.8_Splice_Site_p.R453M	NM_015723.3	NP_056538.1	Q9NP80	PLPL8_HUMAN	patatin-like phospholipase domain containing 8	453	Patatin.				arachidonic acid metabolic process (GO:0019369)|arachidonic acid secretion (GO:0050482)|cell death (GO:0008219)|fatty acid metabolic process (GO:0006631)|glycerophospholipid biosynthetic process (GO:0046474)|linoleic acid metabolic process (GO:0043651)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylcholine catabolic process (GO:0034638)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phosphatidylethanolamine catabolic process (GO:0046338)|phospholipid metabolic process (GO:0006644)|prostaglandin biosynthetic process (GO:0001516)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum membrane (GO:0005789)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|membrane (GO:0016020)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	ATP binding (GO:0005524)|calcium-independent phospholipase A2 activity (GO:0047499)|lysophospholipase activity (GO:0004622)	p.R453M(1)		breast(5)|endometrium(1)|kidney(3)|large_intestine(5)|lung(12)|upper_aerodigestive_tract(3)	29						CTAGCCTTACCTTGTTCCTCC	0.418																																						uc003vff.1																			1	Substitution - Missense(1)		lung(1)	breast(2)	2						c.(1357-1359)AGG>ATG		patatin-like phospholipase domain containing 8							98.0	96.0	97.0					7																	108142935		2203	4300	6503	SO:0001630	splice_region_variant	50640				fatty acid metabolic process|lipid catabolic process	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|membrane fraction|perinuclear region of cytoplasm|peroxisomal membrane	ATP binding|calcium-independent phospholipase A2 activity|lysophospholipase activity	g.chr7:108142935C>A	AF217519	CCDS34733.1, CCDS59075.1, CCDS59508.1	7q31	2012-07-31			ENSG00000135241	ENSG00000135241		"""Patatin-like phospholipase domain containing"""	28900	protein-coding gene	gene with protein product		612123				10744668, 10833412, 16799181, 19029121	Standard	NM_015723		Approved	IPLA2G, IPLA2-2, iPLA2gamma	uc003vfj.2	Q9NP80	OTTHUMG00000154870	ENST00000422087.1:c.1358+1G>T	7.37:g.108142935C>A						PNPLA8_uc003vfg.1_RNA|PNPLA8_uc003vfh.1_Missense_Mutation_p.R453M|PNPLA8_uc003vfi.1_Missense_Mutation_p.R353M|PNPLA8_uc003vfj.1_Missense_Mutation_p.R453M|PNPLA8_uc003vfk.1_Missense_Mutation_p.R353M	p.R453M	NM_015723	NP_056538	Q9NP80	PLPL8_HUMAN			6	1765	-			453			Patatin.		A4D0S1|C9JZI4|O95035|Q8N3I3|Q9H7T5|Q9NR17|Q9NUN2|Q9NZ79	Missense_Mutation	SNP	ENST00000422087.1	37	c.1358G>T	CCDS34733.1	.	.	.	.	.	.	.	.	.	.	C	32	5.120129	0.94385	.	.	ENSG00000135241	ENST00000426128;ENST00000257694;ENST00000388728;ENST00000422087;ENST00000453144;ENST00000436062;ENST00000453085	D;D;D;D;D;D;D	0.82893	-1.66;-1.66;-1.66;-1.66;-1.66;-1.66;-1.66	6.02	6.02	0.97574	Acyl transferase/acyl hydrolase/lysophospholipase (1);Patatin/Phospholipase A2-related (1);	0.000000	0.85682	D	0.000000	D	0.94627	0.8268	H	0.96080	3.765	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.95347	0.8443	9	.	.	.	.	20.5269	0.99230	0.0:1.0:0.0:0.0	.	453	Q9NP80	PLPL8_HUMAN	M	453;453;453;453;353;453;353	ENSP00000394988:R453M;ENSP00000257694:R453M;ENSP00000373380:R453M;ENSP00000410804:R453M;ENSP00000387789:R353M;ENSP00000406779:R453M;ENSP00000402274:R353M	.	R	-	2	0	PNPLA8	107930171	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	7.784000	0.85713	2.859000	0.98148	0.591000	0.81541	AGG		PASS	0.418	PNPLA8-002	NOVEL	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337475.1	NM_015723	Missense_Mutation	18	55	18	55	---	---	---	---
DOCK4	9732	broad.mit.edu	37	7	111508203	111508203	+	Missense_Mutation	SNP	T	T	G			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr7:111508203T>G	ENST00000437633.1	-	22	2373	c.2117A>C	c.(2116-2118)gAa>gCa	p.E706A	DOCK4_ENST00000428084.1_Missense_Mutation_p.E706A|DOCK4_ENST00000476846.1_5'UTR	NM_014705.3	NP_055520.3	Q8N1I0	DOCK4_HUMAN	dedicator of cytokinesis 4	706					cell chemotaxis (GO:0060326)|positive regulation of Rac GTPase activity (GO:0032855)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|membrane (GO:0016020)|stereocilium (GO:0032420)|stereocilium bundle (GO:0032421)	guanyl-nucleotide exchange factor activity (GO:0005085)|PDZ domain binding (GO:0030165)|Rac GTPase activator activity (GO:0030675)|Rac GTPase binding (GO:0048365)|receptor tyrosine kinase binding (GO:0030971)	p.E694A(1)|p.E706A(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(13)|lung(31)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(4)	72		Acute lymphoblastic leukemia(1;0.0441)				AAAAATGTATTCTTGTGCCTT	0.378																																						uc003vfx.2																			2	Substitution - Missense(2)		lung(2)	ovary(2)|haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1)	4						c.(2116-2118)GAA>GCA		dedicator of cytokinesis 4							36.0	37.0	37.0					7																	111508203		1815	4082	5897	SO:0001583	missense	9732				cell chemotaxis	cytosol|endomembrane system|membrane|stereocilium	GTP binding|guanyl-nucleotide exchange factor activity|PDZ domain binding|Rac GTPase activator activity|Rac GTPase binding|receptor tyrosine kinase binding|SH3 domain binding	g.chr7:111508203T>G		CCDS47688.1	7q31.1	2007-08-07			ENSG00000128512	ENSG00000128512			19192	protein-coding gene	gene with protein product		607679				12432077, 12628187	Standard	XM_006716188		Approved	FLJ34238, KIAA0716	uc003vfx.3	Q8N1I0	OTTHUMG00000155077	ENST00000437633.1:c.2117A>C	7.37:g.111508203T>G	ENSP00000404179:p.Glu706Ala					DOCK4_uc003vfw.2_Missense_Mutation_p.E147A|DOCK4_uc003vfy.2_Missense_Mutation_p.E706A|DOCK4_uc003vga.1_Missense_Mutation_p.E311A	p.E706A	NM_014705	NP_055520	Q8N1I0	DOCK4_HUMAN			22	2386	-		Acute lymphoblastic leukemia(1;0.0441)	706					O14584|O94824|Q8NB45	Missense_Mutation	SNP	ENST00000437633.1	37	c.2117A>C	CCDS47688.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	23.0|23.0	4.360585|4.360585	0.82353|0.82353	.|.	.|.	ENSG00000128512|ENSG00000128512	ENST00000352877;ENST00000428084;ENST00000437633;ENST00000342288;ENST00000544250|ENST00000423057;ENST00000445943	T;T|.	0.40476|.	1.03;1.03|.	5.65|5.65	5.65|5.65	0.86999|0.86999	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|D	0.83876|0.83876	0.5349|0.5349	M|M	0.89601|0.89601	3.045|3.045	0.80722|0.80722	D|D	1|1	D;D;D;D|.	0.89917|.	0.999;1.0;1.0;1.0|.	D;D;D;D|.	0.83275|.	0.979;0.994;0.994;0.996|.	D|D	0.86962|0.86962	0.2092|0.2092	10|5	0.72032|.	D|.	0.01|.	.|.	16.1642|16.1642	0.81743|0.81743	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	706;706;706;706|.	Q149N2;Q149N5;Q8N1I0;Q8N1I0-2|.	.;.;DOCK4_HUMAN;.|.	A|H	694;706;706;694;705|158;694	ENSP00000410746:E706A;ENSP00000404179:E706A|.	ENSP00000345432:E694A|.	E|N	-|-	2|1	0|0	DOCK4|DOCK4	111295439|111295439	1.000000|1.000000	0.71417|0.71417	0.990000|0.990000	0.47175|0.47175	0.822000|0.822000	0.46500|0.46500	7.655000|7.655000	0.83696|0.83696	2.280000|2.280000	0.76307|0.76307	0.460000|0.460000	0.39030|0.39030	GAA|AAT		PASS	0.378	DOCK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338369.4	NM_014705		6	34	6	34	---	---	---	---
CTTNBP2	83992	broad.mit.edu	37	7	117432359	117432359	+	Silent	SNP	T	T	G			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr7:117432359T>G	ENST00000160373.3	-	4	982	c.891A>C	c.(889-891)acA>acC	p.T297T	CTTNBP2_ENST00000487820.1_5'Flank	NM_033427.2	NP_219499.1	Q8WZ74	CTTB2_HUMAN	cortactin binding protein 2	297					brain development (GO:0007420)	cell projection (GO:0042995)|synaptic vesicle (GO:0008021)		p.T297T(1)		breast(3)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(36)|ovary(4)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	83	Lung NSC(10;0.0018)|all_lung(10;0.002)			LUSC - Lung squamous cell carcinoma(290;0.133)		CAGTTCCTTCTGTTCCCACAG	0.443																																						uc003vjf.2																			1	Substitution - coding silent(1)		lung(1)	ovary(4)|central_nervous_system(1)	5						c.(889-891)ACA>ACC		cortactin binding protein 2							161.0	145.0	150.0					7																	117432359		2203	4300	6503	SO:0001819	synonymous_variant	83992							g.chr7:117432359T>G		CCDS5774.1	7q31	2013-01-10	2004-06-08	2004-06-09	ENSG00000077063	ENSG00000077063		"""Ankyrin repeat domain containing"""	15679	protein-coding gene	gene with protein product		609772	"""cortactin binding protein 2"""	CORTBP2, C7orf8		11707066	Standard	XM_005250635		Approved	KIAA1758, Orf4	uc003vjf.3	Q8WZ74	OTTHUMG00000022880	ENST00000160373.3:c.891A>C	7.37:g.117432359T>G							p.T297T	NM_033427	NP_219499	Q8WZ74	CTTB2_HUMAN		LUSC - Lung squamous cell carcinoma(290;0.133)	4	983	-	Lung NSC(10;0.0018)|all_lung(10;0.002)		297					O43389|Q7LG11|Q9C0A5	Silent	SNP	ENST00000160373.3	37	c.891A>C	CCDS5774.1																																																																																				PASS	0.443	CTTNBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059201.4	NM_033427		30	142	30	142	---	---	---	---
KCND2	3751	broad.mit.edu	37	7	119915167	119915167	+	Missense_Mutation	SNP	G	G	C			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr7:119915167G>C	ENST00000331113.4	+	1	1446	c.481G>C	c.(481-483)Gcc>Ccc	p.A161P		NM_012281.2	NP_036413.1	Q9NZV8	KCND2_HUMAN	potassium voltage-gated channel, Shal-related subfamily, member 2	161					action potential (GO:0001508)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	dendritic spine (GO:0043197)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	A-type (transient outward) potassium channel activity (GO:0005250)|metal ion binding (GO:0046872)|voltage-gated potassium channel activity (GO:0005249)	p.A161P(1)		NS(2)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(11)|lung(35)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	75	all_neural(327;0.117)				Amitriptyline(DB00321)|Dalfampridine(DB06637)|Disopyramide(DB00280)|Imipramine(DB00458)	TGGGGAGAGCGCCTTGCCCAC	0.607																																						uc003vjj.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)|central_nervous_system(2)|skin(1)	5						c.(481-483)GCC>CCC		potassium voltage-gated channel, Shal-related							70.0	71.0	70.0					7																	119915167		2203	4300	6503	SO:0001583	missense	3751				regulation of action potential|synaptic transmission	cell surface|dendritic spine	metal ion binding	g.chr7:119915167G>C	AJ010969	CCDS5776.1	7q31	2012-07-05			ENSG00000184408	ENSG00000184408		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6238	protein-coding gene	gene with protein product		605410				10551270, 16382104	Standard	NM_012281		Approved	Kv4.2, RK5, KIAA1044	uc003vjj.1	Q9NZV8	OTTHUMG00000156989	ENST00000331113.4:c.481G>C	7.37:g.119915167G>C	ENSP00000333496:p.Ala161Pro						p.A161P	NM_012281	NP_036413	Q9NZV8	KCND2_HUMAN			1	1446	+	all_neural(327;0.117)		161			Cytoplasmic (Potential).		O95012|O95021|Q2TBD3|Q9UBY7|Q9UN98|Q9UNH9	Missense_Mutation	SNP	ENST00000331113.4	37	c.481G>C	CCDS5776.1	.	.	.	.	.	.	.	.	.	.	G	2.685	-0.274414	0.05679	.	.	ENSG00000184408	ENST00000331113	D	0.96802	-4.13	5.71	3.93	0.45458	.	0.397603	0.25546	N	0.029924	T	0.79986	0.4541	N	0.00347	-1.61	0.09310	N	0.999999	B	0.02656	0.0	B	0.04013	0.001	T	0.72424	-0.4298	9	.	.	.	.	2.2342	0.04004	0.2171:0.1226:0.5183:0.1419	.	161	Q9NZV8	KCND2_HUMAN	P	161	ENSP00000333496:A161P	.	A	+	1	0	KCND2	119702403	0.020000	0.18652	0.956000	0.39512	0.145000	0.21501	0.437000	0.21543	0.790000	0.33803	-0.126000	0.14955	GCC		PASS	0.607	KCND2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346996.1	NM_012281		21	64	21	64	---	---	---	---
AASS	10157	broad.mit.edu	37	7	121738556	121738556	+	Nonsense_Mutation	SNP	T	T	A	rs387906333		TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr7:121738556T>A	ENST00000393376.1	-	14	1698	c.1603A>T	c.(1603-1605)Aaa>Taa	p.K535*	AASS_ENST00000473553.1_5'UTR|AASS_ENST00000417368.2_Nonsense_Mutation_p.K535*			Q9UDR5	AASS_HUMAN	aminoadipate-semialdehyde synthase	535	Saccharopine dehydrogenase.				cellular nitrogen compound metabolic process (GO:0034641)|L-lysine catabolic process to acetyl-CoA via saccharopine (GO:0033512)|lysine catabolic process (GO:0006554)|protein tetramerization (GO:0051262)|small molecule metabolic process (GO:0044281)	intracellular membrane-bounded organelle (GO:0043231)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	saccharopine dehydrogenase (NAD+, L-glutamate-forming) activity (GO:0047131)|saccharopine dehydrogenase (NADP+, L-lysine-forming) activity (GO:0047130)	p.K535*(1)		autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(6)|large_intestine(12)|lung(27)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	54						TCTTCTTGTTTACAAATGTCC	0.333																																						uc003vka.2																			1	Substitution - Nonsense(1)		lung(1)	upper_aerodigestive_tract(1)|ovary(1)	2						c.(1603-1605)AAA>TAA		aminoadipate-semialdehyde synthase precursor	L-Glutamic Acid(DB00142)|NADH(DB00157)						117.0	116.0	116.0					7																	121738556		2203	4300	6503	SO:0001587	stop_gained	10157				protein tetramerization	mitochondrial matrix	binding|saccharopine dehydrogenase (NAD+, L-glutamate-forming) activity|saccharopine dehydrogenase (NADP+, L-lysine-forming) activity	g.chr7:121738556T>A	AF229180	CCDS5783.1	7q31.3	2010-12-14			ENSG00000008311	ENSG00000008311			17366	protein-coding gene	gene with protein product		605113				10775527	Standard	NM_005763		Approved	LORSDH, LKRSDH	uc003vkb.3	Q9UDR5	OTTHUMG00000157058	ENST00000393376.1:c.1603A>T	7.37:g.121738556T>A	ENSP00000377040:p.Lys535*					AASS_uc011knu.1_RNA|AASS_uc011knv.1_RNA|AASS_uc003vkb.2_Nonsense_Mutation_p.K535*|AASS_uc011knw.1_Nonsense_Mutation_p.K23*	p.K535*	NM_005763	NP_005754	Q9UDR5	AASS_HUMAN			14	1699	-			535			Saccharopine dehydrogenase.		O95462	Nonsense_Mutation	SNP	ENST00000393376.1	37	c.1603A>T	CCDS5783.1	.	.	.	.	.	.	.	.	.	.	T	38	6.948095	0.97956	.	.	ENSG00000008311	ENST00000393376;ENST00000417368	.	.	.	5.97	5.97	0.96955	.	0.162788	0.64402	D	0.000002	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-19.4586	10.3616	0.43998	0.0:0.0763:0.0:0.9237	.	.	.	.	X	535	.	ENSP00000351834:K535X	K	-	1	0	AASS	121525792	0.998000	0.40836	0.997000	0.53966	0.998000	0.95712	3.157000	0.50716	2.285000	0.76669	0.477000	0.44152	AAA		PASS	0.333	AASS-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347300.1	NM_005763		11	51	11	51	---	---	---	---
AASS	10157	broad.mit.edu	37	7	121738574	121738574	+	Missense_Mutation	SNP	C	C	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr7:121738574C>A	ENST00000393376.1	-	14	1680	c.1585G>T	c.(1585-1587)Gtt>Ttt	p.V529F	AASS_ENST00000473553.1_5'UTR|AASS_ENST00000417368.2_Missense_Mutation_p.V529F			Q9UDR5	AASS_HUMAN	aminoadipate-semialdehyde synthase	529	Saccharopine dehydrogenase.				cellular nitrogen compound metabolic process (GO:0034641)|L-lysine catabolic process to acetyl-CoA via saccharopine (GO:0033512)|lysine catabolic process (GO:0006554)|protein tetramerization (GO:0051262)|small molecule metabolic process (GO:0044281)	intracellular membrane-bounded organelle (GO:0043231)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	saccharopine dehydrogenase (NAD+, L-glutamate-forming) activity (GO:0047131)|saccharopine dehydrogenase (NADP+, L-lysine-forming) activity (GO:0047130)	p.V529F(1)		autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(6)|large_intestine(12)|lung(27)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	54						TCCATGCTAACAGGATTAATA	0.343																																						uc003vka.2																			1	Substitution - Missense(1)		lung(1)	upper_aerodigestive_tract(1)|ovary(1)	2						c.(1585-1587)GTT>TTT		aminoadipate-semialdehyde synthase precursor	L-Glutamic Acid(DB00142)|NADH(DB00157)						109.0	107.0	108.0					7																	121738574		2203	4300	6503	SO:0001583	missense	10157				protein tetramerization	mitochondrial matrix	binding|saccharopine dehydrogenase (NAD+, L-glutamate-forming) activity|saccharopine dehydrogenase (NADP+, L-lysine-forming) activity	g.chr7:121738574C>A	AF229180	CCDS5783.1	7q31.3	2010-12-14			ENSG00000008311	ENSG00000008311			17366	protein-coding gene	gene with protein product		605113				10775527	Standard	NM_005763		Approved	LORSDH, LKRSDH	uc003vkb.3	Q9UDR5	OTTHUMG00000157058	ENST00000393376.1:c.1585G>T	7.37:g.121738574C>A	ENSP00000377040:p.Val529Phe					AASS_uc011knu.1_RNA|AASS_uc011knv.1_RNA|AASS_uc003vkb.2_Missense_Mutation_p.V529F|AASS_uc011knw.1_Missense_Mutation_p.V17F	p.V529F	NM_005763	NP_005754	Q9UDR5	AASS_HUMAN			14	1681	-			529			Saccharopine dehydrogenase.		O95462	Missense_Mutation	SNP	ENST00000393376.1	37	c.1585G>T	CCDS5783.1	.	.	.	.	.	.	.	.	.	.	C	15.48	2.846576	0.51164	.	.	ENSG00000008311	ENST00000393376;ENST00000417368	T;T	0.46451	0.87;0.87	5.97	2.84	0.33178	NAD(P)-binding domain (1);	0.277118	0.40302	N	0.001137	T	0.51584	0.1683	M	0.70842	2.15	0.27528	N	0.951178	P	0.37276	0.589	P	0.50049	0.629	T	0.49624	-0.8920	10	0.72032	D	0.01	-11.8546	7.6631	0.28415	0.0:0.6195:0.0:0.3805	.	529	Q9UDR5	AASS_HUMAN	F	529	ENSP00000377040:V529F;ENSP00000403768:V529F	ENSP00000351834:V529F	V	-	1	0	AASS	121525810	0.403000	0.25319	0.053000	0.19242	0.919000	0.55068	0.382000	0.20635	0.861000	0.35504	0.585000	0.79938	GTT		PASS	0.343	AASS-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347300.1	NM_005763		14	38	14	38	---	---	---	---
AASS	10157	broad.mit.edu	37	7	121773664	121773664	+	Missense_Mutation	SNP	C	C	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr7:121773664C>A	ENST00000393376.1	-	1	212	c.117G>T	c.(115-117)agG>agT	p.R39S	AASS_ENST00000473553.1_Intron|AASS_ENST00000417368.2_Missense_Mutation_p.R39S			Q9UDR5	AASS_HUMAN	aminoadipate-semialdehyde synthase	39	Lysine-ketoglutarate reductase.				cellular nitrogen compound metabolic process (GO:0034641)|L-lysine catabolic process to acetyl-CoA via saccharopine (GO:0033512)|lysine catabolic process (GO:0006554)|protein tetramerization (GO:0051262)|small molecule metabolic process (GO:0044281)	intracellular membrane-bounded organelle (GO:0043231)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	saccharopine dehydrogenase (NAD+, L-glutamate-forming) activity (GO:0047131)|saccharopine dehydrogenase (NADP+, L-lysine-forming) activity (GO:0047130)	p.R39S(1)		autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(6)|large_intestine(12)|lung(27)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	54						CTAGCGGGGCCCTTCTCTCCC	0.577																																						uc003vka.2																			1	Substitution - Missense(1)		lung(1)	upper_aerodigestive_tract(1)|ovary(1)	2						c.(115-117)AGG>AGT		aminoadipate-semialdehyde synthase precursor	L-Glutamic Acid(DB00142)|NADH(DB00157)						111.0	99.0	103.0					7																	121773664		2203	4300	6503	SO:0001583	missense	10157				protein tetramerization	mitochondrial matrix	binding|saccharopine dehydrogenase (NAD+, L-glutamate-forming) activity|saccharopine dehydrogenase (NADP+, L-lysine-forming) activity	g.chr7:121773664C>A	AF229180	CCDS5783.1	7q31.3	2010-12-14			ENSG00000008311	ENSG00000008311			17366	protein-coding gene	gene with protein product		605113				10775527	Standard	NM_005763		Approved	LORSDH, LKRSDH	uc003vkb.3	Q9UDR5	OTTHUMG00000157058	ENST00000393376.1:c.117G>T	7.37:g.121773664C>A	ENSP00000377040:p.Arg39Ser					AASS_uc011knu.1_RNA|AASS_uc011knv.1_RNA|AASS_uc003vkb.2_Missense_Mutation_p.R39S|AASS_uc011knw.1_Intron	p.R39S	NM_005763	NP_005754	Q9UDR5	AASS_HUMAN			1	213	-			39			Lysine-ketoglutarate reductase.		O95462	Missense_Mutation	SNP	ENST00000393376.1	37	c.117G>T	CCDS5783.1	.	.	.	.	.	.	.	.	.	.	.	17.52	3.408925	0.62399	.	.	ENSG00000008311	ENST00000393376;ENST00000417368	D;D	0.89810	-2.57;-2.57	5.32	2.51	0.30379	Alanine dehydrogenase/PNT, N-terminal (1);	0.000000	0.85682	D	0.000000	D	0.95636	0.8581	H	0.97682	4.055	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.94734	0.7912	10	0.87932	D	0	-19.0459	8.1487	0.31128	0.0:0.6408:0.0:0.3592	.	39	Q9UDR5	AASS_HUMAN	S	39	ENSP00000377040:R39S;ENSP00000403768:R39S	ENSP00000351834:R39S	R	-	3	2	AASS	121560900	0.991000	0.36638	0.993000	0.49108	0.691000	0.40173	0.265000	0.18515	1.241000	0.43820	-0.259000	0.10710	AGG		PASS	0.577	AASS-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347300.1	NM_005763		38	82	38	82	---	---	---	---
RNF148	378925	broad.mit.edu	37	7	122342063	122342063	+	Missense_Mutation	SNP	C	C	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr7:122342063C>T	ENST00000434824.1	-	1	958	c.742G>A	c.(742-744)Gat>Aat	p.D248N	RNF148_ENST00000447240.1_3'UTR|CADPS2_ENST00000412584.2_Intron|CADPS2_ENST00000334010.7_Intron|CADPS2_ENST00000449022.2_Intron|RNF133_ENST00000340112.2_5'Flank|CADPS2_ENST00000313070.7_Intron	NM_198085.1	NP_932351.1	Q8N7C7	RN148_HUMAN	ring finger protein 148	248						integral component of membrane (GO:0016021)	zinc ion binding (GO:0008270)	p.D248N(2)		endometrium(2)|kidney(1)|large_intestine(6)|lung(7)	16						AATTCCTCATCCCCTTCTTTG	0.403																																						uc003vkk.1																			2	Substitution - Missense(2)		lung(2)		0						c.(742-744)GAT>AAT		ring finger protein 148 precursor							107.0	101.0	103.0					7																	122342063		1907	4127	6034	SO:0001583	missense	378925					integral to membrane	zinc ion binding	g.chr7:122342063C>T	BC029264	CCDS47692.1	7q31.33	2013-01-09			ENSG00000235631	ENSG00000235631		"""RING-type (C3HC4) zinc fingers"""	22411	protein-coding gene	gene with protein product						8744354	Standard	NM_198085		Approved	MGC35222	uc003vkk.1	Q8N7C7	OTTHUMG00000157099	ENST00000434824.1:c.742G>A	7.37:g.122342063C>T	ENSP00000388207:p.Asp248Asn					CADPS2_uc010lkp.2_Intron|CADPS2_uc010lkq.2_Intron|RNF133_uc003vkj.1_5'Flank|RNF148_uc010lkr.1_3'UTR	p.D248N	NM_198085	NP_932351	Q8N7C7	RN148_HUMAN			1	959	-			248					A4D0X4|Q8N308	Missense_Mutation	SNP	ENST00000434824.1	37	c.742G>A	CCDS47692.1	.	.	.	.	.	.	.	.	.	.	C	17.34	3.364191	0.61513	.	.	ENSG00000235631	ENST00000434824	T	0.06449	3.3	5.37	4.47	0.54385	.	.	.	.	.	T	0.23249	0.0562	M	0.71206	2.165	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.00599	-1.1651	9	0.51188	T	0.08	.	13.8937	0.63757	0.0:0.8473:0.1527:0.0	.	248	Q8N7C7	RN148_HUMAN	N	248	ENSP00000388207:D248N	ENSP00000388207:D248N	D	-	1	0	RNF148	122129299	0.999000	0.42202	0.938000	0.37757	0.491000	0.33493	3.863000	0.56016	1.220000	0.43490	0.561000	0.74099	GAT		PASS	0.403	RNF148-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347424.1	NM_198085		7	36	7	36	---	---	---	---
SSU72P8	136157	broad.mit.edu	37	7	124116644	124116644	+	IGR	SNP	G	G	C			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr7:124116644G>C								RP5-921G16.1 (81472 upstream) : RNU6-102P (171128 downstream)																							GAAAGATAGAGAATGCTACAC	0.418																																						uc011kod.1																			0											c.(220-222)GAA>CAA		RecName: Full=Putative RNA polymerase II subunit A C-terminal domain phosphatase SSU72-like protein 2;          Short=CTD phosphatase SSU72-like protein 2;          EC=3.1.3.16;							122.0	117.0	119.0					7																	124116644		1897	4107	6004	SO:0001628	intergenic_variant	0							g.chr7:124116644G>C																													7.37:g.124116644G>C							p.E74Q	NM_001085395	NP_001078864					1	220	+									Missense_Mutation	SNP		37	c.220G>C																																																																																				0	PASS	0.418									40	111	40	111	---	---	---	---
GRM8	2918	broad.mit.edu	37	7	126173635	126173635	+	Missense_Mutation	SNP	C	C	G			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr7:126173635C>G	ENST00000339582.2	-	9	2609	c.1801G>C	c.(1801-1803)Gtg>Ctg	p.V601L	GRM8_ENST00000444921.2_Missense_Mutation_p.V601L|GRM8_ENST00000358373.3_Missense_Mutation_p.V601L|GRM8_ENST00000480995.1_5'UTR			O00222	GRM8_HUMAN	glutamate receptor, metabotropic 8	601					adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|negative regulation of cAMP biosynthetic process (GO:0030818)|regulation of synaptic transmission, glutamatergic (GO:0051966)|sensory perception of smell (GO:0007608)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)	G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)|group III metabotropic glutamate receptor activity (GO:0001642)	p.V601L(1)		breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(16)|lung(62)|ovary(5)|pancreas(1)|prostate(1)|skin(14)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(4)	125		Prostate(267;0.186)				GTCACGATCACAAAGGTGGTG	0.493										HNSCC(24;0.065)																												uc003vlr.2																			1	Substitution - Missense(1)		lung(1)	lung(15)|ovary(5)|pancreas(1)|breast(1)|skin(1)	23						c.(1801-1803)GTG>CTG		glutamate receptor, metabotropic 8 isoform a	L-Glutamic Acid(DB00142)						131.0	117.0	121.0					7																	126173635		2203	4300	6503	SO:0001583	missense	2918				negative regulation of cAMP biosynthetic process|sensory perception of smell|visual perception	integral to plasma membrane		g.chr7:126173635C>G		CCDS5794.1, CCDS47696.1	7q31.3-q32.1	2012-08-29			ENSG00000179603	ENSG00000179603		"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4600	protein-coding gene	gene with protein product		601116				8824806	Standard	NM_000845		Approved	GLUR8, GPRC1H, mGlu8, MGLUR8	uc003vlr.2	O00222	OTTHUMG00000022888	ENST00000339582.2:c.1801G>C	7.37:g.126173635C>G	ENSP00000344173:p.Val601Leu	HNSCC(24;0.065)				GRM8_uc003vls.2_RNA|GRM8_uc011kof.1_RNA|GRM8_uc003vlt.2_Missense_Mutation_p.V601L|GRM8_uc010lkz.1_RNA	p.V601L	NM_000845	NP_000836	O00222	GRM8_HUMAN			8	2112	-		Prostate(267;0.186)	601			Helical; Name=1; (Potential).		A4D0Y3|B0FZ74|B0M0L0|O15493|O95945|O95946|Q3MIV9|Q52M02|Q6J165	Missense_Mutation	SNP	ENST00000339582.2	37	c.1801G>C	CCDS5794.1	.	.	.	.	.	.	.	.	.	.	C	24.6	4.548053	0.86022	.	.	ENSG00000179603	ENST00000339582;ENST00000444921;ENST00000358373	D;D;D	0.89681	-2.55;-2.55;-2.55	5.73	5.73	0.89815	GPCR, family 3, C-terminal (2);	0.000000	0.85682	D	0.000000	D	0.93387	0.7891	M	0.84082	2.675	0.80722	D	1	B;P	0.40578	0.319;0.722	B;P	0.50162	0.179;0.633	D	0.93744	0.7053	10	0.87932	D	0	.	18.8976	0.92430	0.0:1.0:0.0:0.0	.	601;601	O00222-2;O00222	.;GRM8_HUMAN	L	601	ENSP00000344173:V601L;ENSP00000409790:V601L;ENSP00000351142:V601L	ENSP00000344173:V601L	V	-	1	0	GRM8	125960871	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	4.974000	0.63771	2.723000	0.93209	0.643000	0.83706	GTG		PASS	0.493	GRM8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000059209.4			21	40	21	40	---	---	---	---
PAX4	5078	broad.mit.edu	37	7	127253566	127253566	+	Missense_Mutation	SNP	G	G	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr7:127253566G>T	ENST00000341640.2	-	5	764	c.559C>A	c.(559-561)Cct>Act	p.P187T	PAX4_ENST00000463946.1_Missense_Mutation_p.P185T|PAX4_ENST00000378740.2_Missense_Mutation_p.P187T|PAX4_ENST00000338516.3_Missense_Mutation_p.P195T	NM_006193.2	NP_006184.2	O43316	PAX4_HUMAN	paired box 4	195					cell differentiation (GO:0030154)|circadian rhythm (GO:0007623)|endocrine pancreas development (GO:0031018)|negative regulation of apoptotic process (GO:0043066)|organ morphogenesis (GO:0009887)|positive regulation of cell differentiation (GO:0045597)|response to cAMP (GO:0051591)|response to drug (GO:0042493)|retina development in camera-type eye (GO:0060041)	nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001206)	p.P187T(1)		cervix(1)|kidney(2)|large_intestine(6)|lung(20)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	35						ACTGAATCAGGATACTGCCCA	0.582																																					Ovarian(113;737 1605 7858 27720 34092)	uc010lld.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(559-561)CCT>ACT		paired box 4							64.0	65.0	65.0					7																	127253566		2203	4300	6503	SO:0001583	missense	5078				cell differentiation|endocrine pancreas development|organ morphogenesis	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr7:127253566G>T		CCDS5797.1	7q32.1	2011-06-20	2007-07-12		ENSG00000106331	ENSG00000106331		"""Paired boxes"", ""Homeoboxes / PRD class"""	8618	protein-coding gene	gene with protein product		167413	"""paired box gene 4"""				Standard	NM_006193		Approved	MODY9	uc010lld.1	O43316	OTTHUMG00000157562	ENST00000341640.2:c.559C>A	7.37:g.127253566G>T	ENSP00000339906:p.Pro187Thr					PAX4_uc003vmf.2_Missense_Mutation_p.P185T|PAX4_uc003vmg.1_Missense_Mutation_p.P187T|PAX4_uc003vmh.2_Missense_Mutation_p.P185T	p.P187T	NM_006193	NP_006184	O43316	PAX4_HUMAN			5	765	-			195			Homeobox.		O95161|Q6B0H0	Missense_Mutation	SNP	ENST00000341640.2	37	c.559C>A	CCDS5797.1	.	.	.	.	.	.	.	.	.	.	G	20.1	3.936995	0.73557	.	.	ENSG00000106331	ENST00000341640;ENST00000338516;ENST00000378740;ENST00000463946	D;D;D	0.98666	-5.06;-5.06;-5.06	4.9	4.9	0.64082	Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);	0.144455	0.46145	D	0.000314	D	0.99369	0.9778	H	0.94423	3.535	0.50467	D	0.999874	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.998;0.999;1.0;0.999	D	0.98595	1.0656	10	0.87932	D	0	.	16.3858	0.83504	0.0:0.0:1.0:0.0	.	187;185;195;185	O43316-4;Q1W386;O43316;G3V4Q1	.;.;PAX4_HUMAN;.	T	187;195;195;185	ENSP00000339906:P187T;ENSP00000344297:P195T;ENSP00000451923:P185T	ENSP00000344297:P195T	P	-	1	0	PAX4	127040802	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	3.893000	0.56243	2.661000	0.90470	0.650000	0.86243	CCT		PASS	0.582	PAX4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000349165.1			21	77	21	77	---	---	---	---
STRIP2	57464	broad.mit.edu	37	7	129091497	129091497	+	Missense_Mutation	SNP	G	G	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr7:129091497G>T	ENST00000249344.2	+	4	358	c.318G>T	c.(316-318)aaG>aaT	p.K106N	STRIP2_ENST00000435494.2_Missense_Mutation_p.K106N	NM_020704.2	NP_065755.1	Q9ULQ0	STRP2_HUMAN	striatin interacting protein 2	106					cell migration (GO:0016477)|cytoskeleton organization (GO:0007010)|regulation of cell shape (GO:0008360)	cytoplasm (GO:0005737)		p.K106N(1)									ATGCCCAAAAGGCCTATATAA	0.547																																						uc011koy.1																			1	Substitution - Missense(1)		lung(1)		0						c.(316-318)AAG>AAT		hypothetical protein LOC57464 isoform a							95.0	89.0	91.0					7																	129091497		2203	4300	6503	SO:0001583	missense	57464							g.chr7:129091497G>T	AB032996	CCDS34752.1, CCDS47709.1	7q32.3	2012-11-05	2012-11-05	2012-11-05	ENSG00000128578	ENSG00000128578			22209	protein-coding gene	gene with protein product	"""FAR11 factor arrest 11 homolog B (yeast)"""		"""family with sequence similarity 40, member B"""	FAM40B		22782902, 22298706, 18782753	Standard	NM_020704		Approved	KIAA1170, FAR11B	uc011koy.2	Q9ULQ0	OTTHUMG00000157695	ENST00000249344.2:c.318G>T	7.37:g.129091497G>T	ENSP00000249344:p.Lys106Asn					FAM40B_uc003vow.2_Missense_Mutation_p.K106N	p.K106N	NM_020704	NP_065755	Q9ULQ0	FA40B_HUMAN			4	358	+			106					Q8WUZ4	Missense_Mutation	SNP	ENST00000249344.2	37	c.318G>T	CCDS34752.1	.	.	.	.	.	.	.	.	.	.	G	13.93	2.383786	0.42308	.	.	ENSG00000128578	ENST00000249344;ENST00000435494	T;T	0.50277	0.76;0.75	4.48	3.57	0.40892	.	0.055989	0.64402	D	0.000001	T	0.47930	0.1472	L	0.51422	1.61	0.40376	D	0.979394	P;P	0.42078	0.77;0.551	B;P	0.49637	0.399;0.617	T	0.45440	-0.9261	10	0.41790	T	0.15	-23.1857	7.4282	0.27111	0.2007:0.0:0.7993:0.0	.	106;106	Q9ULQ0;Q9ULQ0-2	FA40B_HUMAN;.	N	106	ENSP00000249344:K106N;ENSP00000392393:K106N	ENSP00000249344:K106N	K	+	3	2	FAM40B	128878733	1.000000	0.71417	1.000000	0.80357	0.900000	0.52787	0.678000	0.25277	2.203000	0.70933	0.650000	0.86243	AAG		PASS	0.547	STRIP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349418.1	NM_001134336		28	43	28	43	---	---	---	---
STRIP2	57464	broad.mit.edu	37	7	129093116	129093116	+	Missense_Mutation	SNP	G	G	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr7:129093116G>T	ENST00000249344.2	+	5	498	c.458G>T	c.(457-459)aGg>aTg	p.R153M	STRIP2_ENST00000435494.2_Missense_Mutation_p.R153M	NM_020704.2	NP_065755.1	Q9ULQ0	STRP2_HUMAN	striatin interacting protein 2	153					cell migration (GO:0016477)|cytoskeleton organization (GO:0007010)|regulation of cell shape (GO:0008360)	cytoplasm (GO:0005737)		p.R153M(1)									CACTGGTCCAGGTACAACTGC	0.522																																						uc011koy.1																			1	Substitution - Missense(1)		lung(1)		0						c.(457-459)AGG>ATG		hypothetical protein LOC57464 isoform a							280.0	224.0	243.0					7																	129093116		2203	4300	6503	SO:0001583	missense	57464							g.chr7:129093116G>T	AB032996	CCDS34752.1, CCDS47709.1	7q32.3	2012-11-05	2012-11-05	2012-11-05	ENSG00000128578	ENSG00000128578			22209	protein-coding gene	gene with protein product	"""FAR11 factor arrest 11 homolog B (yeast)"""		"""family with sequence similarity 40, member B"""	FAM40B		22782902, 22298706, 18782753	Standard	NM_020704		Approved	KIAA1170, FAR11B	uc011koy.2	Q9ULQ0	OTTHUMG00000157695	ENST00000249344.2:c.458G>T	7.37:g.129093116G>T	ENSP00000249344:p.Arg153Met					FAM40B_uc003vow.2_Missense_Mutation_p.R153M	p.R153M	NM_020704	NP_065755	Q9ULQ0	FA40B_HUMAN			5	498	+			153					Q8WUZ4	Missense_Mutation	SNP	ENST00000249344.2	37	c.458G>T	CCDS34752.1	.	.	.	.	.	.	.	.	.	.	G	22.2	4.260324	0.80246	.	.	ENSG00000128578	ENST00000249344;ENST00000435494	T;T	0.49432	0.79;0.78	5.68	5.68	0.88126	.	0.000000	0.85682	D	0.000000	T	0.65893	0.2735	M	0.79123	2.44	0.52501	D	0.999957	D;D	0.76494	0.99;0.999	D;D	0.72625	0.923;0.978	T	0.65096	-0.6251	10	0.37606	T	0.19	-19.9019	10.679	0.45802	0.0862:0.0:0.9138:0.0	.	153;153	Q9ULQ0;Q9ULQ0-2	FA40B_HUMAN;.	M	153	ENSP00000249344:R153M;ENSP00000392393:R153M	ENSP00000249344:R153M	R	+	2	0	FAM40B	128880352	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.632000	0.83247	2.698000	0.92095	0.561000	0.74099	AGG		PASS	0.522	STRIP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349418.1	NM_001134336		23	68	23	68	---	---	---	---
NUP205	23165	broad.mit.edu	37	7	135261844	135261844	+	Missense_Mutation	SNP	A	A	G	rs376210354		TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr7:135261844A>G	ENST00000285968.6	+	5	642	c.616A>G	c.(616-618)Aga>Gga	p.R206G	NUP205_ENST00000440390.2_Silent_p.R9R	NM_015135.2	NP_055950	Q92621	NU205_HUMAN	nucleoporin 205kDa	206					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|nuclear pore complex assembly (GO:0051292)|nucleocytoplasmic transport (GO:0006913)|protein import into nucleus, docking (GO:0000059)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nuclear periphery (GO:0034399)|nuclear pore (GO:0005643)	structural constituent of nuclear pore (GO:0017056)	p.R206G(1)		breast(4)|central_nervous_system(2)|endometrium(9)|kidney(7)|large_intestine(17)|liver(4)|lung(36)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	93						ACAGCGAGAGAGAGGTTTGGG	0.403																																						uc003vsw.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|breast(1)|central_nervous_system(1)|skin(1)	6						c.(616-618)AGA>GGA		nucleoporin 205kDa		A	GLY/ARG	0,4406		0,0,2203	126.0	121.0	123.0		616	4.4	1.0	7		123	1,8599	1.2+/-3.3	0,1,4299	no	missense	NUP205	NM_015135.2	125	0,1,6502	GG,GA,AA		0.0116,0.0,0.0077	probably-damaging	206/2013	135261844	1,13005	2203	4300	6503	SO:0001583	missense	23165				carbohydrate metabolic process|glucose transport|mRNA transport|protein import into nucleus, docking|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear pore	protein binding	g.chr7:135261844A>G	D86978	CCDS34759.1	7q31.32	2007-03-26	2004-01-06	2004-01-07	ENSG00000155561	ENSG00000155561			18658	protein-coding gene	gene with protein product		614352	"""chromosome 7 open reading frame 14"""	C7orf14		9039502, 9348540	Standard	NM_015135		Approved	KIAA0225	uc003vsw.3	Q92621	OTTHUMG00000155497	ENST00000285968.6:c.616A>G	7.37:g.135261844A>G	ENSP00000285968:p.Arg206Gly					NUP205_uc011kqa.1_RNA	p.R206G	NM_015135	NP_055950	Q92621	NU205_HUMAN			5	647	+			206					A6H8X3|Q86YC1	Missense_Mutation	SNP	ENST00000285968.6	37	c.616A>G	CCDS34759.1	.	.	.	.	.	.	.	.	.	.	A	25.2	4.611075	0.87258	0.0	1.16E-4	ENSG00000155561	ENST00000285968	T	0.35421	1.31	5.61	4.39	0.52855	.	0.000000	0.85682	D	0.000000	T	0.55832	0.1945	M	0.76838	2.35	0.80722	D	1	D	0.76494	0.999	D	0.68765	0.96	T	0.54925	-0.8220	10	0.31617	T	0.26	-7.6456	11.028	0.47757	0.6581:0.3419:0.0:0.0	.	206	Q92621	NU205_HUMAN	G	206	ENSP00000285968:R206G	ENSP00000285968:R206G	R	+	1	2	NUP205	134912384	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.527000	0.73803	2.145000	0.66743	0.482000	0.46254	AGA		PASS	0.403	NUP205-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340358.1			22	64	22	64	---	---	---	---
NUP205	23165	broad.mit.edu	37	7	135312824	135312824	+	Missense_Mutation	SNP	T	T	C			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr7:135312824T>C	ENST00000285968.6	+	34	4923	c.4897T>C	c.(4897-4899)Tct>Cct	p.S1633P		NM_015135.2	NP_055950	Q92621	NU205_HUMAN	nucleoporin 205kDa	1633					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|nuclear pore complex assembly (GO:0051292)|nucleocytoplasmic transport (GO:0006913)|protein import into nucleus, docking (GO:0000059)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nuclear periphery (GO:0034399)|nuclear pore (GO:0005643)	structural constituent of nuclear pore (GO:0017056)	p.S1633P(1)		breast(4)|central_nervous_system(2)|endometrium(9)|kidney(7)|large_intestine(17)|liver(4)|lung(36)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	93						CATCCTCACATCTAGTATGGC	0.507																																						uc003vsw.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|breast(1)|central_nervous_system(1)|skin(1)	6						c.(4897-4899)TCT>CCT		nucleoporin 205kDa							168.0	157.0	161.0					7																	135312824		2203	4300	6503	SO:0001583	missense	23165				carbohydrate metabolic process|glucose transport|mRNA transport|protein import into nucleus, docking|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear pore	protein binding	g.chr7:135312824T>C	D86978	CCDS34759.1	7q31.32	2007-03-26	2004-01-06	2004-01-07	ENSG00000155561	ENSG00000155561			18658	protein-coding gene	gene with protein product		614352	"""chromosome 7 open reading frame 14"""	C7orf14		9039502, 9348540	Standard	NM_015135		Approved	KIAA0225	uc003vsw.3	Q92621	OTTHUMG00000155497	ENST00000285968.6:c.4897T>C	7.37:g.135312824T>C	ENSP00000285968:p.Ser1633Pro					NUP205_uc003vsx.2_RNA	p.S1633P	NM_015135	NP_055950	Q92621	NU205_HUMAN			34	4928	+			1633					A6H8X3|Q86YC1	Missense_Mutation	SNP	ENST00000285968.6	37	c.4897T>C	CCDS34759.1	.	.	.	.	.	.	.	.	.	.	T	27.2	4.813288	0.90707	.	.	ENSG00000155561	ENST00000285968	T	0.44482	0.92	5.84	5.84	0.93424	.	0.000000	0.85682	D	0.000000	T	0.64800	0.2631	M	0.72118	2.19	0.80722	D	1	D	0.89917	1.0	D	0.77557	0.99	T	0.68228	-0.5464	10	0.87932	D	0	-20.5394	16.226	0.82293	0.0:0.0:0.0:1.0	.	1633	Q92621	NU205_HUMAN	P	1633	ENSP00000285968:S1633P	ENSP00000285968:S1633P	S	+	1	0	NUP205	134963364	1.000000	0.71417	0.265000	0.24526	0.979000	0.70002	8.027000	0.88791	2.230000	0.72887	0.528000	0.53228	TCT		PASS	0.507	NUP205-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340358.1			54	132	54	132	---	---	---	---
CHRM2	1129	broad.mit.edu	37	7	136700561	136700561	+	Missense_Mutation	SNP	G	G	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr7:136700561G>T	ENST00000445907.2	+	3	1477	c.949G>T	c.(949-951)Gat>Tat	p.D317Y	CHRM2_ENST00000397608.3_Missense_Mutation_p.D317Y|CHRM2_ENST00000401861.1_Missense_Mutation_p.D317Y|hsa-mir-490_ENST00000586239.1_RNA|CHRM2_ENST00000453373.1_Missense_Mutation_p.D317Y|hsa-mir-490_ENST00000597642.1_RNA|hsa-mir-490_ENST00000593789.1_RNA|hsa-mir-490_ENST00000439694.1_RNA|hsa-mir-490_ENST00000425981.2_RNA|CHRM2_ENST00000320658.5_Missense_Mutation_p.D317Y|hsa-mir-490_ENST00000598184.1_RNA|CHRM2_ENST00000402486.3_Missense_Mutation_p.D317Y|hsa-mir-490_ENST00000592183.1_RNA	NM_001006627.1|NM_001006629.1	NP_001006628.1|NP_001006630.1	P08172	ACM2_HUMAN	cholinergic receptor, muscarinic 2	317					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)|G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|nervous system development (GO:0007399)|phospholipase C-activating G-protein coupled acetylcholine receptor signaling pathway (GO:0007207)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|regulation of heart contraction (GO:0008016)|response to virus (GO:0009615)	cell junction (GO:0030054)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	G-protein coupled acetylcholine receptor activity (GO:0016907)	p.D317Y(1)		central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(13)|liver(1)|lung(29)|ovary(4)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	68					Aclidinium(DB08897)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Anisotropine Methylbromide(DB00517)|Aripiprazole(DB01238)|Atropine(DB00572)|Bethanechol(DB01019)|Brompheniramine(DB00835)|Carbachol(DB00411)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clozapine(DB00363)|Cocaine(DB00907)|Cryptenamine(DB00785)|Cyproheptadine(DB00434)|Darifenacin(DB00496)|Desipramine(DB01151)|Dicyclomine(DB00804)|Dimetindene(DB08801)|Diphenidol(DB01231)|Disopyramide(DB00280)|Doxacurium chloride(DB01135)|Doxepin(DB01142)|Ethopropazine(DB00392)|Fesoterodine(DB06702)|Flavoxate(DB01148)|Gallamine Triethiodide(DB00483)|Glycopyrrolate(DB00986)|Homatropine Methylbromide(DB00725)|Hyoscyamine(DB00424)|Imipramine(DB00458)|Ipratropium bromide(DB00332)|Ketamine(DB01221)|Loxapine(DB00408)|Maprotiline(DB00934)|Methotrimeprazine(DB01403)|Methylscopolamine bromide(DB00462)|Metixene(DB00340)|Metocurine(DB01336)|Mivacurium(DB01226)|Nicardipine(DB00622)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Pancuronium(DB01337)|Paroxetine(DB00715)|Pethidine(DB00454)|Pilocarpine(DB01085)|Pipecuronium(DB01338)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Rocuronium(DB00728)|Scopolamine(DB00747)|Solifenacin(DB01591)|Succinylcholine(DB00202)|Tiotropium(DB01409)|Tolterodine(DB01036)|Triflupromazine(DB00508)|Trihexyphenidyl(DB00376)|Trimipramine(DB00726)|Tropicamide(DB00809)|Ziprasidone(DB00246)	CCATTCCAAAGATGAGAACTC	0.463																																						uc003vtf.1																			1	Substitution - Missense(1)		lung(1)	ovary(4)|central_nervous_system(1)	5						c.(949-951)GAT>TAT		cholinergic receptor, muscarinic 2	Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Carbachol(DB00411)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Desipramine(DB01151)|Diphenidol(DB01231)|Doxacurium(DB01334)|Doxacurium chloride(DB01135)|Flavoxate(DB01148)|Gallamine Triethiodide(DB00483)|Homatropine Methylbromide(DB00725)|Hyoscyamine(DB00424)|Ipratropium(DB00332)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Metocurine(DB01336)|Mivacurium(DB01226)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Pilocarpine(DB01085)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Rocuronium(DB00728)|Thiethylperazine(DB00372)|Tolterodine(DB01036)|Tridihexethyl(DB00505)|Triflupromazine(DB00508)						96.0	97.0	97.0					7																	136700561		2203	4300	6503	SO:0001583	missense	1129				activation of phospholipase C activity by muscarinic acetylcholine receptor signaling pathway|G-protein signaling, coupled to cAMP nucleotide second messenger|nervous system development|regulation of heart contraction|response to virus	cell junction|integral to plasma membrane|postsynaptic membrane	muscarinic acetylcholine receptor activity|protein binding	g.chr7:136700561G>T		CCDS5843.1	7q35-q36	2014-09-17			ENSG00000181072	ENSG00000181072		"""Cholinergic receptors"", ""GPCR / Class A : Cholinergic receptors, muscarinic"""	1951	protein-coding gene	gene with protein product	"""acetylcholine receptor, muscarinic 2"""	118493					Standard	NM_000739		Approved		uc003vtl.1	P08172	OTTHUMG00000155658	ENST00000445907.2:c.949G>T	7.37:g.136700561G>T	ENSP00000399745:p.Asp317Tyr					CHRM2_uc003vtg.1_Missense_Mutation_p.D317Y|CHRM2_uc003vtj.1_Missense_Mutation_p.D317Y|CHRM2_uc003vtk.1_Missense_Mutation_p.D317Y|CHRM2_uc003vtl.1_Missense_Mutation_p.D317Y|CHRM2_uc003vtm.1_Missense_Mutation_p.D317Y|CHRM2_uc003vti.1_Missense_Mutation_p.D317Y|CHRM2_uc003vto.1_Missense_Mutation_p.D317Y|CHRM2_uc003vtn.1_Missense_Mutation_p.D317Y|uc003vtp.1_Intron	p.D317Y	NM_001006630	NP_001006631	P08172	ACM2_HUMAN			4	1572	+			317			Cytoplasmic (By similarity).		Q4VBK6|Q9P1X9	Missense_Mutation	SNP	ENST00000445907.2	37	c.949G>T	CCDS5843.1	.	.	.	.	.	.	.	.	.	.	G	13.48	2.250336	0.39797	.	.	ENSG00000181072	ENST00000445907;ENST00000453373;ENST00000320658;ENST00000397608;ENST00000402486;ENST00000401861	T;T;T;T;T;T	0.62498	0.02;0.02;0.02;0.02;0.02;0.02	5.4	5.4	0.78164	GPCR, rhodopsin-like superfamily (1);	0.586313	0.17103	N	0.186905	T	0.65565	0.2703	L	0.54323	1.7	0.47276	D	0.999375	B	0.28178	0.202	B	0.35073	0.195	T	0.64605	-0.6368	10	0.56958	D	0.05	-8.6042	19.1729	0.93588	0.0:0.0:1.0:0.0	.	317	P08172	ACM2_HUMAN	Y	317	ENSP00000399745:D317Y;ENSP00000415386:D317Y;ENSP00000319984:D317Y;ENSP00000380733:D317Y;ENSP00000384937:D317Y;ENSP00000384401:D317Y	ENSP00000319984:D317Y	D	+	1	0	CHRM2	136351101	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.704000	0.74639	2.541000	0.85698	0.655000	0.94253	GAT		PASS	0.463	CHRM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341010.1			17	80	17	80	---	---	---	---
DGKI	9162	broad.mit.edu	37	7	137206685	137206685	+	Missense_Mutation	SNP	C	C	G			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr7:137206685C>G	ENST00000288490.5	-	21	2175	c.2175G>C	c.(2173-2175)agG>agC	p.R725S	DGKI_ENST00000453654.2_Missense_Mutation_p.R425S|DGKI_ENST00000424189.2_Missense_Mutation_p.R746S|DGKI_ENST00000446122.1_Missense_Mutation_p.R725S	NM_004717.2	NP_004708.1	O75912	DGKI_HUMAN	diacylglycerol kinase, iota	725					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.R725S(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						TCACCCGGATCCTCAGACGAT	0.453																																						uc003vtt.2																			2	Substitution - Missense(2)		lung(2)	ovary(1)|kidney(1)|skin(1)	3						c.(2173-2175)AGG>AGC		diacylglycerol kinase, iota							90.0	78.0	82.0					7																	137206685		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.chr7:137206685C>G	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.2175G>C	7.37:g.137206685C>G	ENSP00000288490:p.Arg725Ser					DGKI_uc003vtu.2_Missense_Mutation_p.R425S	p.R725S	NM_004717	NP_004708	O75912	DGKI_HUMAN			21	2176	-			725					A4D1Q9|Q9NZ49	Missense_Mutation	SNP	ENST00000288490.5	37	c.2175G>C	CCDS5845.1	.	.	.	.	.	.	.	.	.	.	C	19.28	3.797259	0.70567	.	.	ENSG00000157680	ENST00000453654;ENST00000540376;ENST00000424189;ENST00000288490;ENST00000446122	T;T;T	0.40225	1.67;1.04;1.27	5.87	3.13	0.36017	.	0.096946	0.64402	D	0.000001	T	0.51822	0.1697	M	0.66939	2.045	0.58432	D	0.999996	P;D	0.56035	0.948;0.974	P;P	0.57911	0.655;0.829	T	0.50363	-0.8837	10	0.72032	D	0.01	.	6.2167	0.20659	0.13:0.6659:0.0:0.2042	.	425;725	E9PFX6;O75912	.;DGKI_HUMAN	S	425;673;746;725;725	ENSP00000392161:R425S;ENSP00000288490:R725S;ENSP00000399131:R725S	ENSP00000288490:R725S	R	-	3	2	DGKI	136857225	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	1.630000	0.37081	0.501000	0.28013	-0.136000	0.14681	AGG		PASS	0.453	DGKI-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000341286.3	NM_004717		15	51	15	51	---	---	---	---
KDM7A	80853	broad.mit.edu	37	7	139826556	139826556	+	Missense_Mutation	SNP	C	C	G			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr7:139826556C>G	ENST00000397560.2	-	6	866	c.769G>C	c.(769-771)Gat>Cat	p.D257H	JHDM1D_ENST00000006967.5_Missense_Mutation_p.D257H	NM_030647.1	NP_085150.1	Q6ZMT4	KDM7A_HUMAN		257	JmjC. {ECO:0000255|PROSITE- ProRule:PRU00538}.				histone H3-K27 demethylation (GO:0071557)|histone H3-K36 demethylation (GO:0070544)|histone H3-K9 demethylation (GO:0033169)|histone H4-K20 demethylation (GO:0035574)|midbrain development (GO:0030901)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleolus (GO:0005730)|nucleus (GO:0005634)	histone demethylase activity (H3-K27 specific) (GO:0071558)|histone demethylase activity (H3-K36 specific) (GO:0051864)|histone demethylase activity (H3-K9 specific) (GO:0032454)|histone demethylase activity (H4-K20 specific) (GO:0035575)|iron ion binding (GO:0005506)|methylated histone binding (GO:0035064)|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.D257H(1)		central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(1)|stomach(1)	22	Melanoma(164;0.0142)					ACTGAATCATCTGGCCAATAA	0.403																																						uc003vvm.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(769-771)GAT>CAT		jumonji C domain containing histone demethylase							95.0	89.0	91.0					7																	139826556		1826	4086	5912	SO:0001583	missense	80853				midbrain development|transcription, DNA-dependent	nucleolus	histone demethylase activity (H3-K27 specific)|histone demethylase activity (H3-K36 specific)|histone demethylase activity (H3-K9 specific)|histone demethylase activity (H4-K20 specific)|iron ion binding|methylated histone residue binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding	g.chr7:139826556C>G																												ENST00000397560.2:c.769G>C	7.37:g.139826556C>G	ENSP00000380692:p.Asp257His						p.D257H	NM_030647	NP_085150	Q6ZMT4	KDM7_HUMAN			6	773	-	Melanoma(164;0.0142)		257			JmjC.		A4D1S9|C9JJH9|C9JQU2|Q6MZL8|Q9C0E5	Missense_Mutation	SNP	ENST00000397560.2	37	c.769G>C	CCDS43658.1	.	.	.	.	.	.	.	.	.	.	C	23.6	4.433837	0.83776	.	.	ENSG00000006459	ENST00000397560;ENST00000006967	T;T	0.70282	-0.47;-0.47	5.9	5.9	0.94986	Transcription factor jumonji/aspartyl beta-hydroxylase (2);	0.000000	0.85682	D	0.000000	D	0.85452	0.5700	M	0.78637	2.42	0.80722	D	1	D	0.89917	1.0	D	0.79108	0.992	D	0.86007	0.1498	10	0.87932	D	0	-22.1424	20.2631	0.98458	0.0:1.0:0.0:0.0	.	257	Q6ZMT4	KDM7_HUMAN	H	257	ENSP00000380692:D257H;ENSP00000006967:D257H	ENSP00000006967:D257H	D	-	1	0	JHDM1D	139473025	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.999000	0.70665	2.788000	0.95919	0.655000	0.94253	GAT		PASS	0.403	JHDM1D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348460.1			32	83	32	83	---	---	---	---
WEE2	494551	broad.mit.edu	37	7	141420746	141420746	+	Nonsense_Mutation	SNP	T	T	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr7:141420746T>A	ENST00000397541.2	+	5	1176	c.770T>A	c.(769-771)tTg>tAg	p.L257*	WEE2-AS1_ENST00000488785.1_RNA|WEE2-AS1_ENST00000484172.1_RNA|WEE2-AS1_ENST00000459753.1_RNA|WEE2-AS1_ENST00000495800.1_RNA|WEE2-AS1_ENST00000465110.1_RNA|WEE2-AS1_ENST00000471512.1_RNA|WEE2-AS1_ENST00000462383.1_RNA|WEE2-AS1_ENST00000486906.1_RNA|WEE2-AS1_ENST00000478332.1_RNA	NM_001105558.1	NP_001099028.1	P0C1S8	WEE2_HUMAN	WEE1 homolog 2 (S. pombe)	257	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				female meiotic division (GO:0007143)|female pronucleus assembly (GO:0035038)|mitotic nuclear division (GO:0007067)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of oocyte maturation (GO:1900194)|regulation of meiosis I (GO:0060631)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein serine/threonine kinase activity (GO:0004674)	p.L257*(1)		breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(2)|stomach(1)	31	Melanoma(164;0.0171)					AATTCGGCTTTGCATGAAGTT	0.393																																						uc003vwn.2																			1	Substitution - Nonsense(1)		lung(1)	ovary(1)|stomach(1)	2						c.(769-771)TTG>TAG		WEE1 homolog 2							148.0	140.0	143.0					7																	141420746		1883	4111	5994	SO:0001587	stop_gained	494551				egg activation|female meiosis|female pronucleus assembly|meiotic metaphase II|meiotic prophase I|mitosis|negative regulation of oocyte development|regulation of meiosis I	centrosome|nucleus	ATP binding|magnesium ion binding|non-membrane spanning protein tyrosine kinase activity|protein serine/threonine kinase activity	g.chr7:141420746T>A	AK131218	CCDS43660.1	7q32	2008-07-02			ENSG00000214102	ENSG00000214102			19684	protein-coding gene	gene with protein product		614084					Standard	NM_001105558		Approved	FLJ16107	uc003vwn.2	P0C1S8	OTTHUMG00000157536	ENST00000397541.2:c.770T>A	7.37:g.141420746T>A	ENSP00000380675:p.Leu257*					FLJ40852_uc011krh.1_Intron|FLJ40852_uc010lnm.2_Intron|FLJ40852_uc010lnn.2_Intron|FLJ40852_uc003vwm.3_Intron|FLJ40852_uc010lno.2_Intron	p.L257*	NM_001105558	NP_001099028	P0C1S8	WEE2_HUMAN			5	1176	+	Melanoma(164;0.0171)		257			Protein kinase.			Nonsense_Mutation	SNP	ENST00000397541.2	37	c.770T>A	CCDS43660.1	.	.	.	.	.	.	.	.	.	.	T	28.0	4.877892	0.91664	.	.	ENSG00000214102	ENST00000397541;ENST00000493845	.	.	.	5.53	5.53	0.82687	.	0.095038	0.43919	U	0.000518	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	15.6678	0.77247	0.0:0.0:0.0:1.0	.	.	.	.	X	257;32	.	ENSP00000380675:L257X	L	+	2	0	WEE2	141067215	1.000000	0.71417	0.676000	0.29932	0.977000	0.68977	7.649000	0.83500	2.108000	0.64289	0.533000	0.62120	TTG		PASS	0.393	WEE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349091.1	NM_001105558		59	166	59	166	---	---	---	---
MGAM	8972	broad.mit.edu	37	7	141736022	141736022	+	Silent	SNP	G	G	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr7:141736022G>A	ENST00000549489.2	+	17	2108	c.2013G>A	c.(2011-2013)agG>agA	p.R671R	MGAM_ENST00000475668.2_Silent_p.R671R	NM_004668.2	NP_004659.2	O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)	671	Maltase.				carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)|starch catabolic process (GO:0005983)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-1,4-glucosidase activity (GO:0004558)|amylase activity (GO:0016160)|carbohydrate binding (GO:0030246)|catalytic activity (GO:0003824)|glucan 1,4-alpha-glucosidase activity (GO:0004339)|maltose alpha-glucosidase activity (GO:0032450)	p.R671R(3)		cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	AGCTCTGTAGGCGGTGGATGC	0.478																																						uc003vwy.2																			3	Substitution - coding silent(3)		lung(3)	ovary(2)	2						c.(2011-2013)AGG>AGA		maltase-glucoamylase	Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)						128.0	124.0	125.0					7																	141736022		1955	4152	6107	SO:0001819	synonymous_variant	8972				polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity	g.chr7:141736022G>A	AF016833	CCDS47727.1	7q34	2012-10-03			ENSG00000257335	ENSG00000257335			7043	protein-coding gene	gene with protein product		154360				9446624	Standard	NM_004668		Approved	MGA	uc003vwy.3	O43451	OTTHUMG00000158395	ENST00000549489.2:c.2013G>A	7.37:g.141736022G>A							p.R671R	NM_004668	NP_004659	O43451	MGA_HUMAN			17	2067	+	Melanoma(164;0.0272)		671			Lumenal (Potential).|Maltase.		Q0VAX6|Q75ME7|Q86UM5	Silent	SNP	ENST00000549489.2	37	c.2013G>A	CCDS47727.1																																																																																				PASS	0.478	MGAM-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000351244.3			15	14	15	14	---	---	---	---
TRBV30	28557	broad.mit.edu	37	7	142510429	142510429	+	RNA	SNP	C	C	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr7:142510429C>A	ENST00000417977.2	-	0	288									T cell receptor beta variable 30 (gene/pseudogene)																		GCTGGAGGCCCCTGCCTGCAG	0.612																																						uc003wbp.2																			0											c.(175-177)AGG>AGT		SubName: Full=V_segment translation product; Flags: Fragment;							31.0	36.0	34.0					7																	142510429		1944	4136	6080			0							g.chr7:142510429C>A	L36092		7q34	2012-02-07	2008-09-12		ENSG00000237254	ENSG00000237254		"""T cell receptors / TRB locus"""	12214	other	T cell receptor gene			"""T cell receptor beta variable 30"""			8650574	Standard	NG_001333		Approved	TCRBV20S1A1N2, TCRBV30S1			OTTHUMG00000158907		7.37:g.142510429C>A							p.R59S							2	289	-									Missense_Mutation	SNP	ENST00000417977.2	37	c.177G>T																																																																																					PASS	0.612	TRBV30-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	TR_V_gene	TR_V_gene	OTTHUMT00000352519.1	NG_001333		10	16	10	16	---	---	---	---
OR2F2	135948	broad.mit.edu	37	7	143632509	143632509	+	Missense_Mutation	SNP	T	T	C			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr7:143632509T>C	ENST00000408955.2	+	1	251	c.184T>C	c.(184-186)Ttt>Ctt	p.F62L		NM_001004685.1	NP_001004685.1	O95006	OR2F2_HUMAN	olfactory receptor, family 2, subfamily F, member 2	62						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.F62L(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(19)|ovary(3)|skin(2)|stomach(1)|urinary_tract(1)	32	Melanoma(164;0.0903)					CATGTATTTCTTTCTCACCAA	0.502																																						uc011ktv.1																			1	Substitution - Missense(1)		lung(1)	ovary(3)|skin(1)	4						c.(184-186)TTT>CTT		olfactory receptor, family 2, subfamily F,							241.0	233.0	236.0					7																	143632509		2203	4298	6501	SO:0001583	missense	135948				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr7:143632509T>C		CCDS43666.1	7q33-q35	2012-08-09			ENSG00000221910	ENSG00000221910		"""GPCR / Class A : Olfactory receptors"""	8247	protein-coding gene	gene with protein product							Standard	NM_001004685		Approved	OR7-1	uc011ktv.2	O95006	OTTHUMG00000157768	ENST00000408955.2:c.184T>C	7.37:g.143632509T>C	ENSP00000386222:p.Phe62Leu						p.F62L	NM_001004685	NP_001004685	O95006	OR2F2_HUMAN			1	184	+	Melanoma(164;0.0903)		62			Helical; Name=2; (Potential).		A4D2G0|Q6IFP8	Missense_Mutation	SNP	ENST00000408955.2	37	c.184T>C	CCDS43666.1	.	.	.	.	.	.	.	.	.	.	T	19.12	3.765883	0.69878	.	.	ENSG00000221910	ENST00000408955	T	0.13778	2.56	3.49	2.33	0.28932	GPCR, rhodopsin-like superfamily (1);	0.000000	0.53938	D	0.000059	T	0.23926	0.0579	L	0.42686	1.345	0.36993	D	0.894899	D	0.71674	0.998	D	0.75484	0.986	T	0.07366	-1.0776	10	0.87932	D	0	-39.6373	6.787	0.23679	0.0:0.1182:0.0:0.8818	.	62	O95006	OR2F2_HUMAN	L	62	ENSP00000386222:F62L	ENSP00000386222:F62L	F	+	1	0	OR2F2	143263442	0.997000	0.39634	1.000000	0.80357	0.989000	0.77384	2.135000	0.42112	0.531000	0.28639	0.402000	0.26972	TTT		PASS	0.502	OR2F2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349570.1			97	248	97	248	---	---	---	---
OR6B1	135946	broad.mit.edu	37	7	143701517	143701517	+	Missense_Mutation	SNP	G	G	T	rs373139746		TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr7:143701517G>T	ENST00000408922.2	+	1	496	c.428G>T	c.(427-429)cGc>cTc	p.R143L		NM_001005281.1	NP_001005281.1	O95007	OR6B1_HUMAN	olfactory receptor, family 6, subfamily B, member 1	143			R -> C (in dbSNP:rs7787378).			integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.R143L(1)|p.R143H(1)		breast(1)|endometrium(3)|large_intestine(3)|lung(15)|ovary(2)|skin(2)|urinary_tract(1)	27	Melanoma(164;0.0783)					CTCTGCTTCCGCCTCGCTCTT	0.562																																						uc003wdt.1																			2	Substitution - Missense(2)		large_intestine(1)|lung(1)	ovary(1)	1						c.(427-429)CGC>CTC		olfactory receptor, family 6, subfamily B,							80.0	82.0	82.0					7																	143701517		2144	4279	6423	SO:0001583	missense	135946				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr7:143701517G>T		CCDS43667.1	7q33-q35	2012-08-09			ENSG00000221813	ENSG00000221813		"""GPCR / Class A : Olfactory receptors"""	8354	protein-coding gene	gene with protein product							Standard	NM_001005281		Approved	OR7-3	uc003wdt.1	O95007	OTTHUMG00000157765	ENST00000408922.2:c.428G>T	7.37:g.143701517G>T	ENSP00000386151:p.Arg143Leu						p.R143L	NM_001005281	NP_001005281	O95007	OR6B1_HUMAN			1	428	+	Melanoma(164;0.0783)		143			Helical; Name=4; (Potential).		A4D2G2|B9EH47|Q6IFP6|Q96R38	Missense_Mutation	SNP	ENST00000408922.2	37	c.428G>T	CCDS43667.1	.	.	.	.	.	.	.	.	.	.	G	5.001	0.185901	0.09495	.	.	ENSG00000221813	ENST00000408922	T	0.00032	8.88	5.26	0.292	0.15737	GPCR, rhodopsin-like superfamily (1);	0.415982	0.17515	U	0.171466	T	0.00073	0.0002	N	0.12443	0.215	0.09310	N	0.999999	B	0.06786	0.001	B	0.19946	0.027	T	0.06023	-1.0850	10	0.10636	T	0.68	.	4.9549	0.14035	0.3181:0.0:0.5455:0.1364	.	143	O95007	OR6B1_HUMAN	L	143	ENSP00000386151:R143L	ENSP00000386151:R143L	R	+	2	0	OR6B1	143332450	0.000000	0.05858	0.157000	0.22605	0.142000	0.21351	-0.483000	0.06536	-0.124000	0.11724	0.655000	0.94253	CGC		PASS	0.562	OR6B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349566.1			20	48	20	48	---	---	---	---
CNTNAP2	26047	broad.mit.edu	37	7	147600693	147600694	+	Missense_Mutation	DNP	AC	AC	TA	rs187552025	byFrequency	TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr7:147600693_147600694AC>TA	ENST00000361727.3	+	14	2651_2652	c.2135_2136AC>TA	c.(2134-2136)aAC>aTA	p.N712I		NM_014141.5	NP_054860.1	Q9UHC6	CNTP2_HUMAN	contactin associated protein-like 2	712	Fibrinogen C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00739}.				adult behavior (GO:0030534)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cellular protein localization (GO:0034613)|cerebral cortex development (GO:0021987)|clustering of voltage-gated potassium channels (GO:0045163)|learning (GO:0007612)|limbic system development (GO:0021761)|neuron projection development (GO:0031175)|neuron recognition (GO:0008038)|protein localization to juxtaparanode region of axon (GO:0071205)|social behavior (GO:0035176)|striatum development (GO:0021756)|superior temporal gyrus development (GO:0071109)|thalamus development (GO:0021794)|transmission of nerve impulse (GO:0019226)|vocalization behavior (GO:0071625)	axolemma (GO:0030673)|axon (GO:0030424)|cell surface (GO:0009986)|dendrite (GO:0030425)|early endosome (GO:0005769)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|juxtaparanode region of axon (GO:0044224)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|perikaryon (GO:0043204)|voltage-gated potassium channel complex (GO:0008076)	enzyme binding (GO:0019899)	p.N712I(2)|p.N712K(1)		NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			GGCAAAGCCAACGAGAAGCACT	0.5										HNSCC(39;0.1)																												uc003weu.1																			3	Substitution - Missense(3)		lung(3)	ovary(9)|central_nervous_system(1)|pancreas(1)	11						c.(2134-2136)AAC>ATC|c.(2134-2136)AAC>AAA		cell recognition molecule Caspr2 precursor																																				SO:0001583	missense	26047				behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding	g.chr7:147600693A>T|g.chr7:147600694C>A	AF193613	CCDS5889.1	7q35	2008-02-04			ENSG00000174469	ENSG00000174469			13830	protein-coding gene	gene with protein product		604569				10624965, 10048485	Standard	NM_014141		Approved	Caspr2, KIAA0868, NRXN4	uc003weu.2	Q9UHC6	OTTHUMG00000152743	Exception_encountered	7.37:g.147600693_147600694delinsTA	ENSP00000354778:p.Asn712Ile	HNSCC(39;0.1)					p.N712I|p.N712K	NM_014141	NP_054860	Q9UHC6	CNTP2_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0319)		14	2651|2652	+	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	712			Extracellular (Potential).|Fibrinogen C-terminal.		D3DWG2|Q14DG2|Q52LV1|Q5H9Q7|Q9UQ12	Missense_Mutation	SNP	ENST00000361727.3	37	c.2135A>T|c.2136C>A	CCDS5889.1																																																																																				PASS	0.500	CNTNAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327668.1			16	40	16	40	---	---	---	---
ZNF425	155054	broad.mit.edu	37	7	148801268	148801269	+	Missense_Mutation	DNP	CC	CC	AA			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr7:148801268_148801269CC>AA	ENST00000378061.2	-	4	1826_1827	c.1694_1695GG>TT	c.(1693-1695)tGG>tTT	p.W565F		NM_001001661.2	NP_001001661.1	Q6IV72	ZN425_HUMAN	zinc finger protein 425	565					negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.W565C(1)|p.W565L(1)|p.W565F(1)		breast(6)|endometrium(4)|kidney(3)|large_intestine(11)|lung(20)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	50	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00463)			TGGAGGCCTTCCAGGAGAAGCT	0.619																																						uc003wfj.2																			3	Substitution - Missense(3)		lung(3)	breast(2)|ovary(1)	3						c.(1693-1695)TGG>TGT|c.(1693-1695)TGG>TTG		zinc finger protein 425																																				SO:0001583	missense	155054				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding	g.chr7:148801268C>A|g.chr7:148801269C>A	AK056498	CCDS34773.1	7q36.1	2013-01-08			ENSG00000204947	ENSG00000204947		"""Zinc fingers, C2H2-type"", ""-"""	20690	protein-coding gene	gene with protein product							Standard	NM_001001661		Approved		uc003wfj.3	Q6IV72	OTTHUMG00000158971	ENST00000378061.2:c.1694_1695delinsAA	7.37:g.148801268_148801269delinsAA	ENSP00000367300:p.Trp565Phe						p.W565C|p.W565L	NM_001001661	NP_001001661	Q6IV72	ZN425_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00463)		4	1768|1767	-	Melanoma(164;0.15)		565			C2H2-type 13.		B3KPM1|Q08AG3	Missense_Mutation	SNP	ENST00000378061.2	37	c.1695G>T|c.1694G>T	CCDS34773.1																																																																																				PASS	0.619	ZNF425-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352726.1	XM_088140		18	30|29	18	29	---	---	---	---
ZNF282	8427	broad.mit.edu	37	7	148921516	148921516	+	Missense_Mutation	SNP	G	G	C			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr7:148921516G>C	ENST00000262085.3	+	8	1898	c.1793G>C	c.(1792-1794)gGc>gCc	p.G598A	ZNF282_ENST00000479907.1_3'UTR	NM_003575.2	NP_003566.1	Q9UDV7	ZN282_HUMAN	zinc finger protein 282	598					negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)	p.G598A(1)		endometrium(3)|large_intestine(3)|lung(7)|prostate(2)|skin(1)|urinary_tract(1)	17	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00171)	Lung(243;0.145)		CTGCACACGGGCGAGCGGCCT	0.642																																						uc003wfm.2																			1	Substitution - Missense(1)		lung(1)		0						c.(1792-1794)GGC>GCC		zinc finger protein 282							57.0	54.0	55.0					7																	148921516		2203	4300	6503	SO:0001583	missense	8427				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr7:148921516G>C	D30612	CCDS5895.1	7q36.1	2013-01-08			ENSG00000170265	ENSG00000170265		"""Zinc fingers, C2H2-type"", ""-"""	13076	protein-coding gene	gene with protein product		603397				9396811	Standard	NM_003575		Approved	HUB1	uc003wfm.3	Q9UDV7	OTTHUMG00000158974	ENST00000262085.3:c.1793G>C	7.37:g.148921516G>C	ENSP00000262085:p.Gly598Ala					ZNF282_uc011kun.1_3'UTR|ZNF282_uc003wfo.2_3'UTR	p.G598A	NM_003575	NP_003566	Q9UDV7	ZN282_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00171)	Lung(243;0.145)	8	1898	+	Melanoma(164;0.15)		598					B4DRI5|O43691|Q6DKK0	Missense_Mutation	SNP	ENST00000262085.3	37	c.1793G>C	CCDS5895.1	.	.	.	.	.	.	.	.	.	.	G	23.4	4.411866	0.83340	.	.	ENSG00000170265	ENST00000430197;ENST00000262085	T	0.01505	4.82	4.15	4.15	0.48705	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.51477	D	0.000084	T	0.05777	0.0151	M	0.72479	2.2	0.80722	D	1	D	0.55172	0.97	P	0.51453	0.67	T	0.20974	-1.0259	10	0.56958	D	0.05	-16.5594	14.3102	0.66410	0.0:0.0:1.0:0.0	.	598	Q9UDV7	ZN282_HUMAN	A	251;598	ENSP00000262085:G598A	ENSP00000262085:G598A	G	+	2	0	ZNF282	148552449	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	4.447000	0.60020	2.325000	0.78763	0.462000	0.41574	GGC		PASS	0.642	ZNF282-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352746.1	NM_003575		7	24	7	24	---	---	---	---
GIMAP8	155038	broad.mit.edu	37	7	150174527	150174527	+	Missense_Mutation	SNP	G	G	C			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr7:150174527G>C	ENST00000307271.3	+	5	2231	c.1657G>C	c.(1657-1659)Gga>Cga	p.G553R		NM_175571.2	NP_783161.1	Q8ND71	GIMA8_HUMAN	GTPase, IMAP family member 8	553	AIG1-type G 3.					cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	GTP binding (GO:0005525)	p.G553R(1)		breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(11)|lung(26)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	62			OV - Ovarian serous cystadenocarcinoma(82;0.0218)	UCEC - Uterine corpus endometrioid carcinoma (81;0.17)		GGCCATCTTTGGAGCAGACTT	0.483																																						uc003whj.2																			1	Substitution - Missense(1)		lung(1)	skin(3)|ovary(2)|breast(1)|central_nervous_system(1)	7						c.(1657-1659)GGA>CGA		GTPase, IMAP family member 8							86.0	86.0	86.0					7																	150174527		2203	4300	6503	SO:0001583	missense	155038					endoplasmic reticulum|Golgi apparatus|mitochondrion	GTP binding	g.chr7:150174527G>C	AL834361	CCDS34777.1	7q36.1	2014-04-04			ENSG00000171115	ENSG00000171115		"""GTPases, IMAP"""	21792	protein-coding gene	gene with protein product	"""immune-associated nucleotide-binding protein 9"""					15474311	Standard	XM_005249951		Approved	DKFZp667I133, hIAN6, IAN9	uc003whj.3	Q8ND71	OTTHUMG00000158327	ENST00000307271.3:c.1657G>C	7.37:g.150174527G>C	ENSP00000305107:p.Gly553Arg						p.G553R	NM_175571	NP_783161	Q8ND71	GIMA8_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0218)	UCEC - Uterine corpus endometrioid carcinoma (81;0.17)	5	1987	+			553						Missense_Mutation	SNP	ENST00000307271.3	37	c.1657G>C	CCDS34777.1	.	.	.	.	.	.	.	.	.	.	G	22.1	4.245873	0.80024	.	.	ENSG00000171115	ENST00000307271	T	0.14893	2.47	4.44	4.44	0.53790	AIG1 (1);	0.169615	0.28114	N	0.016548	T	0.48660	0.1512	M	0.91663	3.23	0.37325	D	0.909708	D	0.89917	1.0	D	0.85130	0.997	T	0.63839	-0.6546	10	0.72032	D	0.01	.	12.4348	0.55593	0.0:0.0:1.0:0.0	.	553	Q8ND71	GIMA8_HUMAN	R	553	ENSP00000305107:G553R	ENSP00000305107:G553R	G	+	1	0	GIMAP8	149805460	1.000000	0.71417	0.558000	0.28319	0.008000	0.06430	4.302000	0.59092	2.321000	0.78463	0.655000	0.94253	GGA		PASS	0.483	GIMAP8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350701.1	NM_175571		28	93	28	93	---	---	---	---
GIMAP7	168537	broad.mit.edu	37	7	150217668	150217668	+	Silent	SNP	T	T	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr7:150217668T>A	ENST00000313543.4	+	2	763	c.606T>A	c.(604-606)tcT>tcA	p.S202S		NM_153236.3	NP_694968.1	Q8NHV1	GIMA7_HUMAN	GTPase, IMAP family member 7	202	AIG1-type G.				GTP catabolic process (GO:0006184)	cytoplasm (GO:0005737)|lipid particle (GO:0005811)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|protein homodimerization activity (GO:0042803)	p.S202S(1)		breast(1)|large_intestine(4)|lung(8)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	17			OV - Ovarian serous cystadenocarcinoma(82;0.0218)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		CTTACTTTTCTGATGACATAT	0.418																																						uc003whk.2																			1	Substitution - coding silent(1)		lung(1)	pancreas(1)|skin(1)	2						c.(604-606)TCT>TCA		GTPase, IMAP family member 7							89.0	83.0	85.0					7																	150217668		2203	4300	6503	SO:0001819	synonymous_variant	168537						GTP binding	g.chr7:150217668T>A	BC027613	CCDS5903.1	7q36.1	2014-04-04			ENSG00000179144	ENSG00000179144		"""GTPases, IMAP"""	22404	protein-coding gene	gene with protein product	"""immune-associated nucleotide-binding protein 7"""					15474311	Standard	NM_153236		Approved	MGC27027, IAN7	uc003whk.3	Q8NHV1	OTTHUMG00000157626	ENST00000313543.4:c.606T>A	7.37:g.150217668T>A							p.S202S	NM_153236	NP_694968	Q8NHV1	GIMA7_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0218)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	2	736	+			202						Silent	SNP	ENST00000313543.4	37	c.606T>A	CCDS5903.1																																																																																				PASS	0.418	GIMAP7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349277.1	NM_153236		22	56	22	56	---	---	---	---
DLGAP2	9228	broad.mit.edu	37	8	1514000	1514000	+	Missense_Mutation	SNP	C	C	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr8:1514000C>A	ENST00000421627.2	+	3	1276	c.1142C>A	c.(1141-1143)gCa>gAa	p.A381E	RP11-666I19.2_ENST00000518063.1_RNA	NM_004745.3	NP_004736.2	Q9P1A6	DLGP2_HUMAN	discs, large (Drosophila) homolog-associated protein 2	460					neuron-neuron synaptic transmission (GO:0007270)	cell junction (GO:0030054)|neurofilament (GO:0005883)|postsynaptic membrane (GO:0045211)		p.A403E(1)|p.A425E(1)		breast(1)|endometrium(6)|lung(31)|prostate(3)	41		Ovarian(12;0.0271)|Hepatocellular(245;0.0838)|Colorectal(14;0.0846)		BRCA - Breast invasive adenocarcinoma(11;0.000169)|READ - Rectum adenocarcinoma(644;0.171)		CCAAAGTCGGCAATCCTACCA	0.557																																						uc003wpl.2																			2	Substitution - Missense(2)		lung(2)		0						c.(1141-1143)GCA>GAA		discs large-associated protein 2							40.0	45.0	43.0					8																	1514000		2159	4285	6444	SO:0001583	missense	9228				neuron-neuron synaptic transmission	cell junction|neurofilament|postsynaptic density|postsynaptic membrane	protein binding	g.chr8:1514000C>A	AB000275	CCDS47760.1, CCDS75689.1	8p23	2007-12-06	2001-11-28		ENSG00000198010	ENSG00000198010			2906	protein-coding gene	gene with protein product		605438	"""discs, large (Drosophila) homolog-associated protein 2"""			9286858, 10854099	Standard	NM_004745		Approved	DAP-2	uc003wpl.4	Q9P1A6	OTTHUMG00000163599	ENST00000421627.2:c.1142C>A	8.37:g.1514000C>A	ENSP00000400258:p.Ala381Glu					DLGAP2_uc003wpm.2_Missense_Mutation_p.A381E	p.A381E	NM_004745	NP_004736	Q9P1A6	DLGP2_HUMAN		BRCA - Breast invasive adenocarcinoma(11;0.000169)|READ - Rectum adenocarcinoma(644;0.171)	3	1239	+		Ovarian(12;0.0271)|Hepatocellular(245;0.0838)|Colorectal(14;0.0846)	460					A1QCF8|A1QCF9|A5D8Y2|O14488|O14664|Q9P1A7	Missense_Mutation	SNP	ENST00000421627.2	37	c.1142C>A	CCDS47760.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	11.70|11.70	1.717385|1.717385	0.30413|0.30413	.|.	.|.	ENSG00000198010|ENSG00000198010	ENST00000356067;ENST00000421627|ENST00000520901	T|.	0.13538|.	2.58|.	4.55|4.55	4.55|4.55	0.56014|0.56014	.|.	0.440273|.	0.27491|.	N|.	0.019130|.	T|T	0.69895|0.69895	0.3162|0.3162	M|M	0.81497|0.81497	2.545|2.545	0.09310|0.09310	N|N	0.999999|0.999999	P;B|.	0.36315|.	0.547;0.411|.	B;B|.	0.30646|.	0.117;0.118|.	T|T	0.64241|0.64241	-0.6454|-0.6454	10|5	0.72032|.	D|.	0.01|.	-3.0894|-3.0894	17.7159|17.7159	0.88336|0.88336	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	460;460|.	Q9P1A6-2;Q9P1A6|.	.;DLGP2_HUMAN|.	E|K	426;381|398	ENSP00000400258:A381E|.	ENSP00000348366:A426E|.	A|Q	+|+	2|1	0|0	DLGAP2|DLGAP2	1501407|1501407	0.993000|0.993000	0.37304|0.37304	0.057000|0.057000	0.19452|0.19452	0.046000|0.046000	0.14306|0.14306	5.411000|5.411000	0.66386|0.66386	2.238000|2.238000	0.73509|0.73509	0.585000|0.585000	0.79938|0.79938	GCA|CAA		PASS	0.557	DLGAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374478.1	NM_004745		6	12	6	12	---	---	---	---
CSMD1	64478	broad.mit.edu	37	8	3087562	3087562	+	Splice_Site	SNP	C	C	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr8:3087562C>A	ENST00000520002.1	-	28	4903	c.4348G>T	c.(4348-4350)Gct>Tct	p.A1450S	CSMD1_ENST00000602723.1_Splice_Site_p.A1450S|CSMD1_ENST00000523387.1_5'UTR|CSMD1_ENST00000539096.1_Splice_Site_p.A1449S|CSMD1_ENST00000400186.3_Splice_Site_p.A1450S|CSMD1_ENST00000602557.1_Splice_Site_p.A1450S|CSMD1_ENST00000542608.1_Splice_Site_p.A1449S|CSMD1_ENST00000537824.1_Splice_Site_p.A1449S			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	1450	Sushi 8. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)		p.A1449S(1)|p.A1178S(1)		breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		TGTCTGATACCTATGCATGTA	0.418																																						uc011kwk.1																			2	Substitution - Missense(2)		lung(2)	breast(20)|large_intestine(5)	25						c.(4348-4350)GCT>TCT		CUB and Sushi multiple domains 1 precursor							89.0	84.0	86.0					8																	3087562		1885	4117	6002	SO:0001630	splice_region_variant	64478					integral to membrane		g.chr8:3087562C>A			8p23.2	2012-04-17			ENSG00000183117	ENSG00000183117		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	14026	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 24"""	608397					Standard	NM_033225		Approved	KIAA1890, PPP1R24	uc022aqr.1	Q96PZ7	OTTHUMG00000163605	ENST00000520002.1:c.4348+1G>T	8.37:g.3087562C>A						CSMD1_uc011kwj.1_Missense_Mutation_p.A842S|CSMD1_uc003wqe.2_Missense_Mutation_p.A606S	p.A1450S	NM_033225	NP_150094	Q96PZ7	CSMD1_HUMAN		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)	27	4738	-		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)	1450			Extracellular (Potential).|Sushi 8.		Q0H0J5|Q96QU9|Q96RM4	Missense_Mutation	SNP	ENST00000520002.1	37	c.4348G>T		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	24.2|24.2	4.502771|4.502771	0.85176|0.85176	.|.	.|.	ENSG00000183117|ENSG00000183117	ENST00000400186;ENST00000520002;ENST00000318252;ENST00000537824;ENST00000542608;ENST00000539096|ENST00000335551	T;T;T;T;T|.	0.25749|.	1.78;1.78;1.78;1.78;1.78|.	5.96|5.96	5.96|5.96	0.96718|0.96718	Complement control module (1);CUB (1);Sushi/SCR/CCP (1);|.	0.000000|.	0.64402|.	D|.	0.000001|.	T|T	0.78078|0.78078	0.4227|0.4227	M|M	0.73753|0.73753	2.245|2.245	0.80722|0.80722	D|D	1|1	D;P;P|.	0.65815|.	0.995;0.735;0.931|.	D;B;P|.	0.73380|.	0.98;0.208;0.872|.	T|T	0.75479|0.75479	-0.3303|-0.3303	9|5	.|.	.|.	.|.	.|.	20.4192|20.4192	0.99033|0.99033	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	1450;1450;1450|.	E5RIG2;Q96PZ7;Q96PZ7-4|.	.;CSMD1_HUMAN;.|.	S|I	1450;1450;1312;1449;1449;1449|929	ENSP00000383047:A1450S;ENSP00000430733:A1450S;ENSP00000441462:A1449S;ENSP00000446243:A1449S;ENSP00000441675:A1449S|.	.|.	A|S	-|-	1|2	0|0	CSMD1|CSMD1	3074969|3074969	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.294000|0.294000	0.27393|0.27393	7.634000|7.634000	0.83273|0.83273	2.831000|2.831000	0.97527|0.97527	0.650000|0.650000	0.86243|0.86243	GCT|AGC		PASS	0.418	CSMD1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000374500.2	NM_033225	Missense_Mutation	11	32	11	32	---	---	---	---
RP1L1	94137	broad.mit.edu	37	8	10466885	10466885	+	Missense_Mutation	SNP	C	C	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr8:10466885C>T	ENST00000382483.3	-	4	4946	c.4723G>A	c.(4723-4725)Gag>Aag	p.E1575K		NM_178857.5	NP_849188.4	Q8IWN7	RP1L1_HUMAN	retinitis pigmentosa 1-like 1	1655			P -> R.		cell projection organization (GO:0030030)|intracellular signal transduction (GO:0035556)|photoreceptor cell development (GO:0042461)|photoreceptor cell maintenance (GO:0045494)|visual perception (GO:0007601)	axoneme (GO:0005930)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|photoreceptor connecting cilium (GO:0032391)|photoreceptor outer segment (GO:0001750)		p.E1575K(1)		breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148				COAD - Colon adenocarcinoma(149;0.0811)		TTCTGGAGCTCTCTCTTGGTG	0.677																																						uc003wtc.2																			1	Substitution - Missense(1)		lung(1)	ovary(4)|breast(3)|central_nervous_system(1)	8						c.(4723-4725)GAG>AAG		retinitis pigmentosa 1-like 1							13.0	15.0	15.0					8																	10466885		2034	4168	6202	SO:0001583	missense	94137				intracellular signal transduction			g.chr8:10466885C>T	AY168346	CCDS43708.1	8p23.1	2011-12-06			ENSG00000183638	ENSG00000183638			15946	protein-coding gene	gene with protein product		608581				12634863	Standard	NM_178857		Approved	DCDC4B	uc003wtc.3	Q8IWN7	OTTHUMG00000163806	ENST00000382483.3:c.4723G>A	8.37:g.10466885C>T	ENSP00000371923:p.Glu1575Lys						p.E1575K	NM_178857	NP_849188	Q8IWN7	RP1L1_HUMAN		COAD - Colon adenocarcinoma(149;0.0811)	4	4952	-			1575					Q86SQ1|Q8IWN8|Q8IWN9|Q8IWP0|Q8IWP1|Q8IWP2	Missense_Mutation	SNP	ENST00000382483.3	37	c.4723G>A	CCDS43708.1	.	.	.	.	.	.	.	.	.	.	C	16.98	3.270821	0.59540	.	.	ENSG00000183638	ENST00000382483	T	0.26373	1.74	5.32	5.32	0.75619	.	0.239499	0.21414	U	0.074928	T	0.42381	0.1200	L	0.36672	1.1	0.33519	D	0.592122	D	0.89917	1.0	D	0.69654	0.965	T	0.52726	-0.8537	10	0.66056	D	0.02	-28.5825	17.5713	0.87935	0.0:1.0:0.0:0.0	.	1575	A6NKC6	.	K	1575	ENSP00000371923:E1575K	ENSP00000371923:E1575K	E	-	1	0	RP1L1	10504295	1.000000	0.71417	0.425000	0.26659	0.397000	0.30659	7.250000	0.78287	2.495000	0.84180	0.491000	0.48974	GAG		PASS	0.677	RP1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375673.1			4	10	4	10	---	---	---	---
SGCZ	137868	broad.mit.edu	37	8	14022118	14022118	+	Missense_Mutation	SNP	G	G	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr8:14022118G>T	ENST00000382080.1	-	5	1233	c.518C>A	c.(517-519)aCc>aAc	p.T173N	RP11-3G21.1_ENST00000527110.1_RNA|SGCZ_ENST00000421524.2_Missense_Mutation_p.T126N	NM_139167.2	NP_631906.2	Q96LD1	SGCZ_HUMAN	sarcoglycan, zeta	160					membrane organization (GO:0061024)|muscle cell cellular homeostasis (GO:0046716)|muscle cell development (GO:0055001)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|integral component of membrane (GO:0016021)|sarcoglycan complex (GO:0016012)		p.T173N(1)		NS(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(14)|lung(15)|ovary(2)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	47				all cancers(2;0.000643)|Colorectal(111;0.00674)|COAD - Colon adenocarcinoma(73;0.0193)|GBM - Glioblastoma multiforme(2;0.026)		AGCCCCAATGGTAATCTCATC	0.413																																						uc003wwq.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|central_nervous_system(1)	3						c.(517-519)ACC>AAC		sarcoglycan zeta							122.0	110.0	114.0					8																	14022118		2203	4300	6503	SO:0001583	missense	137868				cytoskeleton organization	cytoplasm|cytoskeleton|integral to membrane|sarcolemma		g.chr8:14022118G>T	AY028700	CCDS5992.2	8p22	2014-09-17	2010-04-21		ENSG00000185053	ENSG00000185053			14075	protein-coding gene	gene with protein product		608113				12189167	Standard	XM_006716287		Approved	ZSG1	uc003wwq.3	Q96LD1	OTTHUMG00000090827	ENST00000382080.1:c.518C>A	8.37:g.14022118G>T	ENSP00000371512:p.Thr173Asn					SGCZ_uc010lss.2_Missense_Mutation_p.T126N	p.T173N	NM_139167	NP_631906	Q96LD1	SGCZ_HUMAN		all cancers(2;0.000643)|Colorectal(111;0.00674)|COAD - Colon adenocarcinoma(73;0.0193)|GBM - Glioblastoma multiforme(2;0.026)	5	1178	-			160			Extracellular (Potential).		Q6REU0	Missense_Mutation	SNP	ENST00000382080.1	37	c.518C>A	CCDS5992.2	.	.	.	.	.	.	.	.	.	.	G	14.47	2.544840	0.45280	.	.	ENSG00000185053	ENST00000382080;ENST00000421524	D;D	0.94687	-3.49;-3.49	5.4	5.4	0.78164	.	0.378696	0.32444	N	0.006086	D	0.89476	0.6726	L	0.50333	1.59	0.34363	D	0.691208	P;B	0.38335	0.627;0.343	B;B	0.33799	0.17;0.118	D	0.88206	0.2887	10	0.15499	T	0.54	.	8.2375	0.31636	0.1701:0.0:0.8299:0.0	.	126;173	Q08AT0;Q96LD1-2	.;.	N	173;126	ENSP00000371512:T173N;ENSP00000405224:T126N	ENSP00000371512:T173N	T	-	2	0	SGCZ	14066489	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.704000	0.47118	2.699000	0.92147	0.655000	0.94253	ACC		PASS	0.413	SGCZ-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207636.2	NM_139167		20	38	20	38	---	---	---	---
MTUS1	57509	broad.mit.edu	37	8	17541903	17541903	+	Missense_Mutation	SNP	C	C	A	rs200869208		TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr8:17541903C>A	ENST00000262102.6	-	7	2996	c.2772G>T	c.(2770-2772)caG>caT	p.Q924H	MTUS1_ENST00000381861.3_Missense_Mutation_p.Q171H|MIR548V_ENST00000584165.1_RNA|MTUS1_ENST00000381869.3_Missense_Mutation_p.Q870H|MTUS1_ENST00000297488.6_Missense_Mutation_p.Q90H|MTUS1_ENST00000518713.1_5'UTR|MTUS1_ENST00000519263.1_Missense_Mutation_p.Q870H|MTUS1_ENST00000544260.1_Missense_Mutation_p.Q69H	NM_001001924.2	NP_001001924.1	Q9ULD2	MTUS1_HUMAN	microtubule associated tumor suppressor 1	924					cellular response to peptide hormone stimulus (GO:0071375)|regulation of macrophage chemotaxis (GO:0010758)	extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)		p.Q924H(1)|p.Q171H(1)|p.Q90H(1)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(14)|lung(8)|ovary(1)|skin(2)|urinary_tract(1)	36				Colorectal(111;0.0778)		AGGCAAGAAGCTGCTTGAGCT	0.458																																						uc003wxv.2																			3	Substitution - Missense(3)		lung(3)	ovary(1)|skin(1)	2						c.(2770-2772)CAG>CAT		mitochondrial tumor suppressor 1 isoform 1							166.0	167.0	166.0					8																	17541903		1986	4167	6153	SO:0001583	missense	57509					Golgi apparatus|microtubule|microtubule organizing center|mitochondrion|nucleus|plasma membrane|spindle		g.chr8:17541903C>A	AL096842	CCDS43716.1, CCDS43717.1, CCDS43718.1, CCDS43719.1, CCDS55204.1	8p22	2013-01-17	2009-10-20		ENSG00000129422	ENSG00000129422			29789	protein-coding gene	gene with protein product	"""AT2 receptor-interacting protein"", ""AT2R binding protein"", ""mitochondrial tumor suppressor gene 1"""	609589	"""mitochondrial tumor suppressor 1"""			10574462, 12692079	Standard	NM_001001931		Approved	MTSG1, KIAA1288, DKFZp586D1519, FLJ14295, ATIP1, MP44, ATBP, ICIS	uc003wxv.3	Q9ULD2	OTTHUMG00000163756	ENST00000262102.6:c.2772G>T	8.37:g.17541903C>A	ENSP00000262102:p.Gln924His					MTUS1_uc003wxt.2_Missense_Mutation_p.Q171H|MTUS1_uc011kyg.1_Missense_Mutation_p.Q69H|MTUS1_uc010lsy.2_RNA|MTUS1_uc003wxw.2_Missense_Mutation_p.Q870H|MTUS1_uc003wxs.2_Missense_Mutation_p.Q90H|hsa-mir-548v|MI0014174_5'Flank	p.Q924H	NM_001001924	NP_001001924	Q9ULD2	MTUS1_HUMAN		Colorectal(111;0.0778)	7	3246	-			924					A8K135|B2RBJ6|B3KWJ9|B4DH03|B9EGA1|D3DSP8|Q63HJ6|Q659F4|Q6PK49|Q6URW7|Q8N4M6|Q8WTT9|Q9H7T2	Missense_Mutation	SNP	ENST00000262102.6	37	c.2772G>T	CCDS43717.1	.	.	.	.	.	.	.	.	.	.	C	14.08	2.427404	0.43122	.	.	ENSG00000129422	ENST00000381869;ENST00000544260;ENST00000297488;ENST00000381861;ENST00000262102;ENST00000519263	T;T;T;T;T;T	0.41758	0.99;0.99;0.99;0.99;0.99;0.99	5.22	5.22	0.72569	.	0.696518	0.15362	N	0.266374	T	0.39332	0.1074	M	0.65975	2.015	0.80722	D	1	B;B;B;B	0.20368	0.035;0.044;0.007;0.007	B;B;B;B	0.20955	0.022;0.032;0.015;0.005	T	0.47573	-0.9107	10	0.62326	D	0.03	-13.4715	5.2537	0.15537	0.2029:0.68:0.0:0.1172	.	870;924;171;90	Q9ULD2-2;Q9ULD2;Q9ULD2-6;Q9ULD2-3	.;MTUS1_HUMAN;.;.	H	870;69;90;171;924;870	ENSP00000371293:Q870H;ENSP00000445738:Q69H;ENSP00000297488:Q90H;ENSP00000371285:Q171H;ENSP00000262102:Q924H;ENSP00000430167:Q870H	ENSP00000262102:Q924H	Q	-	3	2	MTUS1	17586183	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	1.395000	0.34520	2.885000	0.99019	0.655000	0.94253	CAG		PASS	0.458	MTUS1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000375247.1	XM_372031		45	92	45	92	---	---	---	---
BMP1	649	broad.mit.edu	37	8	22049654	22049654	+	Silent	SNP	G	G	T	rs76021885	byFrequency	TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr8:22049654G>T	ENST00000306385.5	+	9	1840	c.1170G>T	c.(1168-1170)gcG>gcT	p.A390A	BMP1_ENST00000397814.3_Silent_p.A390A|BMP1_ENST00000354870.5_3'UTR|BMP1_ENST00000397816.3_Silent_p.A390A|BMP1_ENST00000306349.8_Silent_p.A390A	NM_006129.4	NP_006120.1	P13497	BMP1_HUMAN	bone morphogenetic protein 1	390	CUB 1. {ECO:0000255|PROSITE- ProRule:PRU00059}.				cartilage condensation (GO:0001502)|cell differentiation (GO:0030154)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|lipoprotein metabolic process (GO:0042157)|multicellular organismal development (GO:0007275)|ossification (GO:0001503)|positive regulation of cartilage development (GO:0061036)|proteolysis (GO:0006508)|skeletal system development (GO:0001501)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|membrane-bounded vesicle (GO:0031988)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|peptidase activity (GO:0008233)|zinc ion binding (GO:0008270)	p.A390A(2)		breast(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(3)	30				Colorectal(74;0.00229)|COAD - Colon adenocarcinoma(73;0.0661)|READ - Rectum adenocarcinoma(644;0.11)		GGAGGAAGGCGCCCCTCCGAG	0.622													G|||	8	0.00159744	0.0061	0.0	5008	,	,		16647	0.0		0.0	False		,,,				2504	0.0					uc003xbg.2																			2	Substitution - coding silent(2)		lung(2)	ovary(2)|breast(1)	3						c.(1168-1170)GCG>GCT		bone morphogenetic protein 1 isoform 3		G	,	20,4386	27.2+/-55.0	0,20,2183	138.0	116.0	123.0		1170,1170	-6.0	0.9	8	dbSNP_131	123	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	BMP1	NM_001199.3,NM_006129.4	,	0,20,6483	TT,TG,GG		0.0,0.4539,0.1538	,	390/731,390/987	22049654	20,12986	2203	4300	6503	SO:0001819	synonymous_variant	649				cartilage condensation|cell differentiation|lipid metabolic process|lipoprotein metabolic process|ossification|positive regulation of cartilage development|proteolysis	extracellular space	calcium ion binding|cytokine activity|growth factor activity|metalloendopeptidase activity|zinc ion binding	g.chr8:22049654G>T		CCDS6026.1, CCDS34856.1	8p21	2013-02-06	2004-08-09		ENSG00000168487	ENSG00000168487	3.4.24.19	"""Bone morphogenetic proteins"""	1067	protein-coding gene	gene with protein product	"""procollagen C-endopeptidase"""	112264	"""procollagen C-endopeptidase"""	PCOLC		2004778	Standard	NM_006129		Approved		uc003xbg.3	P13497	OTTHUMG00000097761	ENST00000306385.5:c.1170G>T	8.37:g.22049654G>T						BMP1_uc003xba.2_Silent_p.A390A|BMP1_uc003xbb.2_Silent_p.A390A|BMP1_uc003xbe.2_RNA|BMP1_uc003xbc.2_Silent_p.A139A|BMP1_uc003xbd.2_RNA|BMP1_uc003xbf.2_Silent_p.A139A|BMP1_uc011kzc.1_Silent_p.A139A|BMP1_uc003xbh.2_RNA|BMP1_uc003xbi.2_RNA	p.A390A	NM_006129	NP_006120	P13497	BMP1_HUMAN		Colorectal(74;0.00229)|COAD - Colon adenocarcinoma(73;0.0661)|READ - Rectum adenocarcinoma(644;0.11)	9	1414	+			390			CUB 1.		A8K6F5|B2RN46|D3DSR0|Q13292|Q13872|Q14874|Q99421|Q99422|Q99423|Q9UL38	Silent	SNP	ENST00000306385.5	37	c.1170G>T	CCDS6026.1																																																																																				PASS	0.622	BMP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214995.2	NM_006132		12	25	12	25	---	---	---	---
ADAM7	8756	broad.mit.edu	37	8	24324400	24324400	+	Silent	SNP	C	C	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr8:24324400C>T	ENST00000175238.6	+	6	561	c.478C>T	c.(478-480)Ctg>Ttg	p.L160L	ADAM7_ENST00000380789.1_Silent_p.L160L|RP11-624C23.1_ENST00000523578.1_RNA|ADAM7_ENST00000441335.2_Silent_p.L160L|RP11-624C23.1_ENST00000519689.1_RNA	NM_003817.3	NP_003808.2	Q9H2U9	ADAM7_HUMAN	ADAM metallopeptidase domain 7	160						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.L160L(1)		NS(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(24)|ovary(1)|skin(15)	64		Prostate(55;0.0181)		Colorectal(74;0.0199)|COAD - Colon adenocarcinoma(73;0.0754)|BRCA - Breast invasive adenocarcinoma(99;0.182)		CAAATATAACCTGAGGGTGCC	0.383																																						uc003xeb.2																			1	Substitution - coding silent(1)		lung(1)	skin(3)|ovary(1)|kidney(1)	5						c.(478-480)CTG>TTG		a disintegrin and metalloproteinase domain 7							111.0	115.0	114.0					8																	24324400		2203	4300	6503	SO:0001819	synonymous_variant	8756				proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding	g.chr8:24324400C>T	AF090327	CCDS6045.1	8p21.2	2005-08-18	2005-08-18		ENSG00000069206	ENSG00000069206		"""ADAM metallopeptidase domain containing"""	214	protein-coding gene	gene with protein product		607310	"""a disintegrin and metalloproteinase domain 7"""				Standard	NM_003817		Approved	GP-83, EAPI	uc003xeb.3	Q9H2U9	OTTHUMG00000097859	ENST00000175238.6:c.478C>T	8.37:g.24324400C>T						ADAM7_uc003xea.1_Silent_p.L160L	p.L160L	NM_003817	NP_003808	Q9H2U9	ADAM7_HUMAN		Colorectal(74;0.0199)|COAD - Colon adenocarcinoma(73;0.0754)|BRCA - Breast invasive adenocarcinoma(99;0.182)	6	591	+		Prostate(55;0.0181)	160			Extracellular (Potential).		A8K8X7|O75959|Q6PEJ6	Silent	SNP	ENST00000175238.6	37	c.478C>T	CCDS6045.1																																																																																				PASS	0.383	ADAM7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215150.1	NM_003817		37	70	37	70	---	---	---	---
CDCA2	157313	broad.mit.edu	37	8	25364168	25364168	+	Silent	SNP	T	T	C			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr8:25364168T>C	ENST00000330560.3	+	15	2463	c.1986T>C	c.(1984-1986)taT>taC	p.Y662Y	CDCA2_ENST00000380665.3_Silent_p.Y647Y|CDCA2_ENST00000521098.2_3'UTR	NM_152562.2	NP_689775.2	Q69YH5	CDCA2_HUMAN	cell division cycle associated 2	662				Y -> D (in Ref. 4; BG354575). {ECO:0000305}.	mitotic nuclear division (GO:0007067)|positive regulation of protein dephosphorylation (GO:0035307)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.Y662Y(1)		breast(3)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(7)|lung(10)|ovary(1)|prostate(3)	35		all_cancers(63;0.0378)|Ovarian(32;0.000878)|all_epithelial(46;0.0162)|Breast(100;0.0164)|Prostate(55;0.191)		UCEC - Uterine corpus endometrioid carcinoma (27;0.022)|Epithelial(17;1.37e-11)|Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0443)		TCTGCTCTTATATAAAAAGTT	0.313																																						uc003xep.1																			1	Substitution - coding silent(1)		lung(1)		0						c.(1984-1986)TAT>TAC		cell division cycle associated 2							67.0	71.0	69.0					8																	25364168		2203	4300	6503	SO:0001819	synonymous_variant	157313				cell division|mitosis	cytoplasm|nucleus		g.chr8:25364168T>C	BG354575	CCDS6049.1	8p21.2	2014-06-12			ENSG00000184661	ENSG00000184661			14623	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 81"""					12188893, 16492807	Standard	NM_152562		Approved	Repo-Man, PPP1R81	uc003xep.1	Q69YH5	OTTHUMG00000099429	ENST00000330560.3:c.1986T>C	8.37:g.25364168T>C						PPP2R2A_uc003xek.2_Intron|CDCA2_uc011lae.1_3'UTR|CDCA2_uc003xeq.1_Silent_p.Y647Y|CDCA2_uc003xer.1_Silent_p.Y325Y	p.Y662Y	NM_152562	NP_689775	Q69YH5	CDCA2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.022)|Epithelial(17;1.37e-11)|Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0443)	15	2465	+		all_cancers(63;0.0378)|Ovarian(32;0.000878)|all_epithelial(46;0.0162)|Breast(100;0.0164)|Prostate(55;0.191)	662	Y -> D (in Ref. 4; BG354575).				Q3SX74|Q4G0W0|Q5RKN0|Q69YI4|Q6P464|Q8N7C1	Silent	SNP	ENST00000330560.3	37	c.1986T>C	CCDS6049.1																																																																																				PASS	0.313	CDCA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216891.3	NM_152562		40	56	40	56	---	---	---	---
ADRA1A	148	broad.mit.edu	37	8	26627827	26627827	+	Missense_Mutation	SNP	T	T	C			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr8:26627827T>C	ENST00000519229.1	-	2	1246	c.1240A>G	c.(1240-1242)Aaa>Gaa	p.K414E	ADRA1A_ENST00000380582.3_Missense_Mutation_p.K414E|ADRA1A_ENST00000354550.4_Missense_Mutation_p.K414E|ADRA1A_ENST00000380573.3_Missense_Mutation_p.K414E|ADRA1A_ENST00000380581.2_Intron|ADRA1A_ENST00000276393.4_Missense_Mutation_p.K414E|ADRA1A_ENST00000380587.1_Intron|ADRA1A_ENST00000380586.1_Missense_Mutation_p.K414E			P25100	ADA1D_HUMAN	adrenoceptor alpha 1A	0					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|adrenergic receptor signaling pathway (GO:0071875)|cell proliferation (GO:0008283)|cell-cell signaling (GO:0007267)|DNA metabolic process (GO:0006259)|G-protein coupled receptor signaling pathway (GO:0007186)|multicellular organismal development (GO:0007275)|negative regulation of the force of heart contraction involved in baroreceptor response to increased systemic arterial blood pressure (GO:0001986)|norepinephrine-epinephrine vasoconstriction involved in regulation of systemic arterial blood pressure (GO:0001994)|positive regulation of cell proliferation (GO:0008284)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	alpha1-adrenergic receptor activity (GO:0004937)	p.K414E(4)		breast(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(17)|ovary(1)|prostate(1)|skin(1)	36		all_cancers(63;0.122)|Ovarian(32;2.61e-05)|all_epithelial(46;0.118)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0228)|Epithelial(17;4.92e-10)|Colorectal(74;0.0132)|READ - Rectum adenocarcinoma(644;0.115)	Alfuzosin(DB00346)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Amphetamine(DB00182)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Carvedilol(DB01136)|Chlorpromazine(DB00477)|Clonidine(DB00575)|Dapiprazole(DB00298)|Desipramine(DB01151)|Doxazosin(DB00590)|Doxepin(DB01142)|Dronedarone(DB04855)|Droxidopa(DB06262)|Epinephrine(DB00668)|Ergoloid mesylate(DB01049)|Ergotamine(DB00696)|Fenoldopam(DB00800)|Imipramine(DB00458)|Labetalol(DB00598)|Maprotiline(DB00934)|Mephentermine(DB01365)|Methotrimeprazine(DB01403)|Methoxamine(DB00723)|Mianserin(DB06148)|Midodrine(DB00211)|Mirtazapine(DB00370)|Nicardipine(DB00622)|Norepinephrine(DB00368)|Nortriptyline(DB00540)|Oxymetazoline(DB00935)|Pergolide(DB01186)|Phenoxybenzamine(DB00925)|Phenylephrine(DB00388)|Prazosin(DB00457)|Promazine(DB00420)|Propiomazine(DB00777)|Quetiapine(DB01224)|Sertindole(DB06144)|Silodosin(DB06207)|Tamsulosin(DB00706)|Terazosin(DB01162)|Xylometazoline(DB06694)	GATTGGTCTTTGGACACTGTA	0.507																																						uc003xfh.1																			4	Substitution - Missense(4)		lung(4)	breast(2)|ovary(1)|lung(1)|skin(1)	5						c.(1240-1242)AAA>GAA		alpha-1A-adrenergic receptor isoform 1	Alfuzosin(DB00346)|Amiodarone(DB01118)|Amphetamine(DB00182)|Benzphetamine(DB00865)|Bethanidine(DB00217)|Carvedilol(DB01136)|Dapiprazole(DB00298)|Debrisoquin(DB04840)|Dextroamphetamine(DB01576)|Doxazosin(DB00590)|Epinastine(DB00751)|Epinephrine(DB00668)|Ergotamine(DB00696)|Flupenthixol(DB00875)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Labetalol(DB00598)|Lisdexamfetamine(DB01255)|Maprotiline(DB00934)|Mephentermine(DB01365)|Metaraminol(DB00610)|Methamphetamine(DB01577)|Methotrimeprazine(DB01403)|Methoxamine(DB00723)|Midodrine(DB00211)|Nefazodone(DB01149)|Nicergoline(DB00699)|Nilutamide(DB00665)|Norepinephrine(DB00368)|Norgestrel(DB00506)|Oxymetazoline(DB00935)|Perphenazine(DB00850)|Phendimetrazine(DB01579)|Phenoxybenzamine(DB00925)|Phenylephrine(DB00388)|Phenylpropanolamine(DB00397)|Prazosin(DB00457)|Promazine(DB00420)|Promethazine(DB01069)|Propericiazine(DB01608)|Propiomazine(DB00777)|Pseudoephedrine(DB00852)|Risperidone(DB00734)|Sertindole(DB06144)|Tamsulosin(DB00706)|Terazosin(DB01162)|Thioridazine(DB00679)|Tolazoline(DB00797)|Trazodone(DB00656)|Trifluoperazine(DB00831)|Ziprasidone(DB00246)						120.0	121.0	120.0					8																	26627827		2203	4300	6503	SO:0001583	missense	148				activation of phospholipase C activity|aging|apoptosis|calcium ion transport into cytosol|cell-cell signaling|intracellular protein kinase cascade|negative regulation of cell proliferation|negative regulation of Rho protein signal transduction|negative regulation of synaptic transmission, GABAergic|positive regulation of action potential|positive regulation of cardiac muscle contraction|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein kinase C signaling cascade|positive regulation of vasoconstriction|response to drug|response to hormone stimulus|response to stress|smooth muscle contraction	integral to plasma membrane	alpha1-adrenergic receptor activity	g.chr8:26627827T>C	L31774	CCDS6052.1, CCDS6053.1, CCDS6054.1, CCDS34869.1	8p21.2	2012-08-08	2012-05-09		ENSG00000120907	ENSG00000120907		"""GPCR / Class A : Adrenoceptors : alpha"""	277	protein-coding gene	gene with protein product		104221	"""adrenergic, alpha-1A-, receptor"""	ADRA1C			Standard	NM_033303		Approved	ADRA1L1	uc003xfh.1	P35348	OTTHUMG00000099459	ENST00000519229.1:c.1240A>G	8.37:g.26627827T>C	ENSP00000430793:p.Lys414Glu					ADRA1A_uc003xfc.1_Missense_Mutation_p.K414E|ADRA1A_uc010lul.1_Intron|ADRA1A_uc003xfd.1_Intron|ADRA1A_uc003xfe.1_Missense_Mutation_p.K414E|ADRA1A_uc010lum.1_Intron|ADRA1A_uc003xff.1_Intron|ADRA1A_uc003xfg.1_Missense_Mutation_p.K414E	p.K414E	NM_000680	NP_000671	P35348	ADA1A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0228)|Epithelial(17;4.92e-10)|Colorectal(74;0.0132)|READ - Rectum adenocarcinoma(644;0.115)	2	1676	-		all_cancers(63;0.122)|Ovarian(32;2.61e-05)|all_epithelial(46;0.118)	414			Cytoplasmic (By similarity).		Q9NPY0	Missense_Mutation	SNP	ENST00000519229.1	37	c.1240A>G		.	.	.	.	.	.	.	.	.	.	T	12.02	1.813985	0.32053	.	.	ENSG00000120907	ENST00000380586;ENST00000380582;ENST00000519229;ENST00000354550;ENST00000276393;ENST00000380573	T;T;T;T;T;T	0.62941	2.32;0.07;0.05;-0.01;0.12;0.12	5.85	3.47	0.39725	.	0.834106	0.10625	N	0.652829	T	0.51822	0.1697	L	0.40543	1.245	0.42623	D	0.993359	B;B;B;B	0.17038	0.02;0.001;0.0;0.0	B;B;B;B	0.14023	0.01;0.003;0.001;0.001	T	0.54689	-0.8256	10	0.56958	D	0.05	.	8.094	0.30818	0.0:0.0756:0.2309:0.6935	.	414;414;414;414	P35348;P35348-4;P35348-3;B0ZBD3	ADA1A_HUMAN;.;.;.	E	414	ENSP00000369960:K414E;ENSP00000369956:K414E;ENSP00000430793:K414E;ENSP00000346557:K414E;ENSP00000276393:K414E;ENSP00000369947:K414E	ENSP00000276393:K414E	K	-	1	0	ADRA1A	26683744	1.000000	0.71417	0.999000	0.59377	0.758000	0.43043	3.230000	0.51286	2.234000	0.73211	0.533000	0.62120	AAA		PASS	0.507	ADRA1A-009	PUTATIVE	not_organism_supported|basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000376207.1	NM_033303		41	70	41	70	---	---	---	---
TEX15	56154	broad.mit.edu	37	8	30700887	30700887	+	Missense_Mutation	SNP	C	C	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr8:30700887C>A	ENST00000256246.2	-	1	5721	c.5647G>T	c.(5647-5649)Ggt>Tgt	p.G1883C		NM_031271.3	NP_112561.2	Q9BXT5	TEX15_HUMAN	testis expressed 15	1883					fertilization (GO:0009566)|homeostasis of number of cells within a tissue (GO:0048873)|male genitalia development (GO:0030539)|male meiosis (GO:0007140)|protein localization to chromosome (GO:0034502)|regulation of double-strand break repair via homologous recombination (GO:0010569)|regulation of protein localization (GO:0032880)|spermatogenesis (GO:0007283)|synaptonemal complex assembly (GO:0007130)			p.G1883C(1)		NS(2)|breast(3)|cervix(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|lung(56)|ovary(5)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	138				KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)		TGTTCCAGACCATAAAGAGAT	0.343																																						uc003xil.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|upper_aerodigestive_tract(2)|skin(2)	7						c.(5647-5649)GGT>TGT		testis expressed 15							122.0	120.0	121.0					8																	30700887		2203	4300	6503	SO:0001583	missense	56154							g.chr8:30700887C>A	AF285605	CCDS6080.1	8p22	2009-03-25	2007-03-13			ENSG00000133863			11738	protein-coding gene	gene with protein product	"""cancer/testis antigen 42"""	605795	"""testis expressed sequence 15"""			11279525	Standard	NM_031271		Approved	CT42	uc003xil.3	Q9BXT5		ENST00000256246.2:c.5647G>T	8.37:g.30700887C>A	ENSP00000256246:p.Gly1883Cys						p.G1883C	NM_031271	NP_112561	Q9BXT5	TEX15_HUMAN		KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)	1	5647	-			1883						Missense_Mutation	SNP	ENST00000256246.2	37	c.5647G>T	CCDS6080.1	.	.	.	.	.	.	.	.	.	.	C	18.81	3.702635	0.68501	.	.	ENSG00000133863	ENST00000256246	T	0.40225	1.04	5.82	5.82	0.92795	.	0.000000	0.56097	D	0.000028	T	0.63640	0.2528	L	0.59436	1.845	0.58432	D	0.999993	D	0.89917	1.0	D	0.97110	1.0	T	0.63875	-0.6538	10	0.87932	D	0	.	18.8857	0.92376	0.0:1.0:0.0:0.0	.	1883	Q9BXT5	TEX15_HUMAN	C	1883	ENSP00000256246:G1883C	ENSP00000256246:G1883C	G	-	1	0	TEX15	30820429	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.290000	0.65661	2.765000	0.95021	0.650000	0.86243	GGT		PASS	0.343	TEX15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376193.1			56	110	56	110	---	---	---	---
TEX15	56154	broad.mit.edu	37	8	30703577	30703577	+	Missense_Mutation	SNP	G	G	C			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr8:30703577G>C	ENST00000256246.2	-	1	3031	c.2957C>G	c.(2956-2958)tCt>tGt	p.S986C	TEX15_ENST00000523186.1_5'Flank	NM_031271.3	NP_112561.2	Q9BXT5	TEX15_HUMAN	testis expressed 15	986					fertilization (GO:0009566)|homeostasis of number of cells within a tissue (GO:0048873)|male genitalia development (GO:0030539)|male meiosis (GO:0007140)|protein localization to chromosome (GO:0034502)|regulation of double-strand break repair via homologous recombination (GO:0010569)|regulation of protein localization (GO:0032880)|spermatogenesis (GO:0007283)|synaptonemal complex assembly (GO:0007130)			p.S986C(1)		NS(2)|breast(3)|cervix(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|lung(56)|ovary(5)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	138				KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)		TTTACATAAAGATGCTTCATC	0.338																																						uc003xil.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|upper_aerodigestive_tract(2)|skin(2)	7						c.(2956-2958)TCT>TGT		testis expressed 15							117.0	122.0	120.0					8																	30703577		2203	4296	6499	SO:0001583	missense	56154							g.chr8:30703577G>C	AF285605	CCDS6080.1	8p22	2009-03-25	2007-03-13			ENSG00000133863			11738	protein-coding gene	gene with protein product	"""cancer/testis antigen 42"""	605795	"""testis expressed sequence 15"""			11279525	Standard	NM_031271		Approved	CT42	uc003xil.3	Q9BXT5		ENST00000256246.2:c.2957C>G	8.37:g.30703577G>C	ENSP00000256246:p.Ser986Cys						p.S986C	NM_031271	NP_112561	Q9BXT5	TEX15_HUMAN		KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)	1	2957	-			986						Missense_Mutation	SNP	ENST00000256246.2	37	c.2957C>G	CCDS6080.1	.	.	.	.	.	.	.	.	.	.	G	14.66	2.601478	0.46423	.	.	ENSG00000133863	ENST00000256246	T	0.22945	1.93	5.62	5.62	0.85841	.	0.000000	0.56097	D	0.000023	T	0.44307	0.1287	L	0.55481	1.735	0.35715	D	0.816664	D	0.89917	1.0	D	0.87578	0.998	T	0.54794	-0.8240	10	0.87932	D	0	.	10.6373	0.45573	0.0874:0.0:0.9126:0.0	.	986	Q9BXT5	TEX15_HUMAN	C	986	ENSP00000256246:S986C	ENSP00000256246:S986C	S	-	2	0	TEX15	30823119	1.000000	0.71417	1.000000	0.80357	0.405000	0.30901	3.995000	0.57001	2.647000	0.89833	0.467000	0.42956	TCT		PASS	0.338	TEX15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376193.1			48	98	48	98	---	---	---	---
KCNU1	157855	broad.mit.edu	37	8	36788571	36788571	+	Missense_Mutation	SNP	G	G	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr8:36788571G>T	ENST00000399881.3	+	25	2876	c.2839G>T	c.(2839-2841)Gtg>Ttg	p.V947L	KCNU1_ENST00000518904.1_3'UTR	NM_001031836.2	NP_001027006.2	A8MYU2	KCNU1_HUMAN	potassium channel, subfamily U, member 1	947					multicellular organism reproduction (GO:0032504)|potassium ion transmembrane transport (GO:0071805)|single fertilization (GO:0007338)|sperm-egg recognition (GO:0035036)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	large conductance calcium-activated potassium channel activity (GO:0060072)|potassium channel activity (GO:0005267)|voltage-gated potassium channel activity (GO:0005249)	p.V947L(2)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(31)|ovary(1)|urinary_tract(1)	57				KIRC - Kidney renal clear cell carcinoma(67;0.0504)|Kidney(114;0.0634)		AGTCTATGGTGTGGCAGATAG	0.443																																						uc010lvw.2																			2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(2839-2841)GTG>TTG		potassium channel, subfamily U, member 1							124.0	118.0	120.0					8																	36788571		1930	4141	6071	SO:0001583	missense	157855					voltage-gated potassium channel complex	binding|large conductance calcium-activated potassium channel activity|voltage-gated potassium channel activity	g.chr8:36788571G>T	BC028701	CCDS55220.1	8p11.2	2012-07-05				ENSG00000215262		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, calcium-activated"""	18867	protein-coding gene	gene with protein product		615215				16382103	Standard	NM_001031836		Approved	KCa5.1, Slo3, KCNMC1, Kcnma3	uc010lvw.3	A8MYU2		ENST00000399881.3:c.2839G>T	8.37:g.36788571G>T	ENSP00000382770:p.Val947Leu					KCNU1_uc003xjw.2_RNA	p.V947L	NM_001031836	NP_001027006	A8MYU2	KCNU1_HUMAN		KIRC - Kidney renal clear cell carcinoma(67;0.0504)|Kidney(114;0.0634)	25	2926	+			947			Cytoplasmic (Potential).			Missense_Mutation	SNP	ENST00000399881.3	37	c.2839G>T	CCDS55220.1	.	.	.	.	.	.	.	.	.	.	G	2.098	-0.406866	0.04832	.	.	ENSG00000215262	ENST00000399881	T	0.28666	1.6	5.41	-10.8	0.00216	.	5.170280	0.01100	N	0.005351	T	0.07279	0.0184	N	0.00538	-1.39	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.43081	-0.9413	10	0.40728	T	0.16	-4.1505	3.7141	0.08431	0.319:0.1797:0.3705:0.1307	.	947	A8MYU2	KCNU1_HUMAN	L	947	ENSP00000382770:V947L	ENSP00000382770:V947L	V	+	1	0	KCNU1	36907729	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.992000	0.01476	-4.189000	0.00066	-1.752000	0.00675	GTG		PASS	0.443	KCNU1-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376631.1	NM_001031836		35	48	35	48	---	---	---	---
PXDNL	137902	broad.mit.edu	37	8	52322096	52322096	+	Silent	SNP	G	G	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr8:52322096G>A	ENST00000356297.4	-	17	2188	c.2088C>T	c.(2086-2088)tcC>tcT	p.S696S	PXDNL_ENST00000543296.1_Silent_p.S696S	NM_144651.4	NP_653252	A1KZ92	PXDNL_HUMAN	peroxidasin homolog (Drosophila)-like	696					hydrogen peroxide catabolic process (GO:0042744)|oxidation-reduction process (GO:0055114)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)	endonuclease activity (GO:0004519)|heme binding (GO:0020037)|metal ion binding (GO:0046872)|peroxidase activity (GO:0004601)	p.S696S(1)		NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	48		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)				GGGAGCGCGGGGACACCAAGT	0.612																																						uc003xqu.3																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|pancreas(1)	2						c.(2086-2088)TCC>TCT		peroxidasin homolog-like precursor							30.0	34.0	32.0					8																	52322096		2092	4214	6306	SO:0001819	synonymous_variant	137902				hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity	g.chr8:52322096G>A		CCDS47855.1	8q11.21-q11.22	2013-02-18	2007-01-12		ENSG00000147485	ENSG00000147485		"""Immunoglobulin superfamily / I-set domain containing"""	26359	protein-coding gene	gene with protein product	"""polysomal ribonuclease 1 homolog (Xenopus)"""	615904	"""peroxidasin homolog-like (Drosophila)"""			22543864	Standard	NM_144651		Approved	FLJ25471, PMR1	uc003xqu.4	A1KZ92	OTTHUMG00000164244	ENST00000356297.4:c.2088C>T	8.37:g.52322096G>A						PXDNL_uc003xqt.3_RNA	p.S696S	NM_144651	NP_653252	A1KZ92	PXDNL_HUMAN			17	2189	-		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)	696					B5ME43|B6CGZ3|H0YBM9|Q6ZMR2|Q96LH9	Silent	SNP	ENST00000356297.4	37	c.2088C>T	CCDS47855.1																																																																																				PASS	0.612	PXDNL-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377905.1	NM_144651		9	35	9	35	---	---	---	---
ST18	9705	broad.mit.edu	37	8	53076624	53076624	+	Missense_Mutation	SNP	G	G	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr8:53076624G>T	ENST00000276480.7	-	13	2005	c.1322C>A	c.(1321-1323)gCt>gAt	p.A441D		NM_014682.2	NP_055497.1	O60284	ST18_HUMAN	suppression of tumorigenicity 18, zinc finger	441					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)	p.A441D(1)		NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(14)|lung(38)|ovary(4)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	85		Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229)				CAATTTTTCAGCTGCAGCAAT	0.418																																						uc003xqz.2																			1	Substitution - Missense(1)		lung(1)	ovary(4)|skin(1)	5						c.(1321-1323)GCT>GAT		suppression of tumorigenicity 18							109.0	111.0	111.0					8																	53076624		2203	4300	6503	SO:0001583	missense	9705					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr8:53076624G>T	AB011107	CCDS6149.1	8q11.23	2014-03-24	2014-03-24	2002-12-13	ENSG00000147488	ENSG00000147488		"""Zinc fingers, C2HC-type containing"""	18695	protein-coding gene	gene with protein product	"""neural zinc finger transcription factor 3"""		"""zinc finger protein 387"", ""suppression of tumorigenicity 18 (breast carcinoma) (zinc finger protein)"""	ZNF387		15489893	Standard	NM_014682		Approved	KIAA0535, ZC2HC10, NZF3	uc003xra.2	O60284	OTTHUMG00000164233	ENST00000276480.7:c.1322C>A	8.37:g.53076624G>T	ENSP00000276480:p.Ala441Asp					ST18_uc011ldq.1_Missense_Mutation_p.A88D|ST18_uc011ldr.1_Missense_Mutation_p.A406D|ST18_uc011lds.1_Missense_Mutation_p.A346D|ST18_uc003xra.2_Missense_Mutation_p.A441D|ST18_uc003xrb.2_Missense_Mutation_p.A441D	p.A441D	NM_014682	NP_055497	O60284	ST18_HUMAN			8	1478	-		Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229)	441					Q17RY1	Missense_Mutation	SNP	ENST00000276480.7	37	c.1322C>A	CCDS6149.1	.	.	.	.	.	.	.	.	.	.	G	33	5.255153	0.95336	.	.	ENSG00000147488	ENST00000276480;ENST00000517580	T;T	0.55413	0.52;0.58	5.92	5.92	0.95590	.	0.049743	0.85682	D	0.000000	T	0.72653	0.3487	M	0.63843	1.955	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.997;0.998	T	0.72975	-0.4128	10	0.87932	D	0	-14.3805	20.3206	0.98668	0.0:0.0:1.0:0.0	.	441;441	E5RHS3;O60284	.;ST18_HUMAN	D	441	ENSP00000276480:A441D;ENSP00000428521:A441D	ENSP00000276480:A441D	A	-	2	0	ST18	53239177	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	9.294000	0.96088	2.809000	0.96659	0.655000	0.94253	GCT		PASS	0.418	ST18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377867.1			48	59	48	59	---	---	---	---
ST18	9705	broad.mit.edu	37	8	53092721	53092721	+	Missense_Mutation	SNP	C	C	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr8:53092721C>T	ENST00000276480.7	-	9	921	c.238G>A	c.(238-240)Gac>Aac	p.D80N		NM_014682.2	NP_055497.1	O60284	ST18_HUMAN	suppression of tumorigenicity 18, zinc finger	80					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)	p.D80N(1)		NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(14)|lung(38)|ovary(4)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	85		Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229)				GGGCCATCGTCCTCTGTCCTG	0.532																																						uc003xqz.2																			1	Substitution - Missense(1)		lung(1)	ovary(4)|skin(1)	5						c.(238-240)GAC>AAC		suppression of tumorigenicity 18							322.0	258.0	280.0					8																	53092721		2203	4300	6503	SO:0001583	missense	9705					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr8:53092721C>T	AB011107	CCDS6149.1	8q11.23	2014-03-24	2014-03-24	2002-12-13	ENSG00000147488	ENSG00000147488		"""Zinc fingers, C2HC-type containing"""	18695	protein-coding gene	gene with protein product	"""neural zinc finger transcription factor 3"""		"""zinc finger protein 387"", ""suppression of tumorigenicity 18 (breast carcinoma) (zinc finger protein)"""	ZNF387		15489893	Standard	NM_014682		Approved	KIAA0535, ZC2HC10, NZF3	uc003xra.2	O60284	OTTHUMG00000164233	ENST00000276480.7:c.238G>A	8.37:g.53092721C>T	ENSP00000276480:p.Asp80Asn					ST18_uc011ldq.1_5'UTR|ST18_uc011ldr.1_Missense_Mutation_p.D45N|ST18_uc011lds.1_5'UTR|ST18_uc003xra.2_Missense_Mutation_p.D80N|ST18_uc003xrb.2_Missense_Mutation_p.D80N|ST18_uc010lyb.2_RNA	p.D80N	NM_014682	NP_055497	O60284	ST18_HUMAN			4	394	-		Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229)	80					Q17RY1	Missense_Mutation	SNP	ENST00000276480.7	37	c.238G>A	CCDS6149.1	.	.	.	.	.	.	.	.	.	.	C	15.12	2.739815	0.49045	.	.	ENSG00000147488	ENST00000276480;ENST00000517580	T;T	0.43688	0.95;0.94	5.53	1.25	0.21368	.	0.697765	0.14910	N	0.291328	T	0.28366	0.0701	L	0.47716	1.5	0.09310	N	0.999994	B	0.23735	0.09	B	0.18561	0.022	T	0.32877	-0.9890	10	0.66056	D	0.02	-2.3348	0.2452	0.00197	0.2393:0.2876:0.2151:0.258	.	80	O60284	ST18_HUMAN	N	80	ENSP00000276480:D80N;ENSP00000428521:D80N	ENSP00000276480:D80N	D	-	1	0	ST18	53255274	0.183000	0.23186	0.527000	0.27925	0.025000	0.11179	0.856000	0.27818	0.715000	0.32103	0.655000	0.94253	GAC		PASS	0.532	ST18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377867.1			111	172	111	172	---	---	---	---
TRIM55	84675	broad.mit.edu	37	8	67064773	67064773	+	Nonsense_Mutation	SNP	G	G	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr8:67064773G>T	ENST00000315962.4	+	8	1520	c.1147G>T	c.(1147-1149)Gag>Tag	p.E383*	TRIM55_ENST00000276573.7_Nonsense_Mutation_p.E383*|TRIM55_ENST00000350034.4_Intron|TRIM55_ENST00000353317.5_Nonsense_Mutation_p.E383*	NM_184085.1	NP_908973.1	Q9BYV6	TRI55_HUMAN	tripartite motif containing 55	383					signal transduction (GO:0007165)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)	identical protein binding (GO:0042802)|signal transducer activity (GO:0004871)|zinc ion binding (GO:0008270)	p.E383*(1)		breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(13)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(2)	39		Lung NSC(129;0.138)|all_lung(136;0.221)	Epithelial(68;0.0136)|all cancers(69;0.0582)|BRCA - Breast invasive adenocarcinoma(89;0.0628)|OV - Ovarian serous cystadenocarcinoma(28;0.0904)			CTCTCAGGTGGAGCTGCAGGC	0.557																																						uc003xvv.2																			1	Substitution - Nonsense(1)		lung(1)	skin(3)|ovary(1)|central_nervous_system(1)	5						c.(1147-1149)GAG>TAG		tripartite motif-containing 55 isoform 1							59.0	65.0	63.0					8																	67064773		2203	4300	6503	SO:0001587	stop_gained	84675					cytoplasm|microtubule|nucleus	signal transducer activity|zinc ion binding	g.chr8:67064773G>T	AJ291712	CCDS6184.1, CCDS6185.1, CCDS6186.1, CCDS6187.1	8q13.1	2013-01-09	2011-01-25	2004-11-17	ENSG00000147573	ENSG00000147573		"""RING-type (C3HC4) zinc fingers"", ""Tripartite motif containing / Tripartite motif containing"""	14215	protein-coding gene	gene with protein product		606469	"""ring finger protein 29"", ""tripartite motif-containing 55"""	RNF29		11243782	Standard	NM_033058		Approved	MURF-2	uc003xvv.3	Q9BYV6	OTTHUMG00000164473	ENST00000315962.4:c.1147G>T	8.37:g.67064773G>T	ENSP00000323913:p.Glu383*					TRIM55_uc003xvu.2_Nonsense_Mutation_p.E383*|TRIM55_uc003xvw.2_Nonsense_Mutation_p.E383*|TRIM55_uc003xvx.2_Intron	p.E383*	NM_184085	NP_908973	Q9BYV6	TRI55_HUMAN	Epithelial(68;0.0136)|all cancers(69;0.0582)|BRCA - Breast invasive adenocarcinoma(89;0.0628)|OV - Ovarian serous cystadenocarcinoma(28;0.0904)		8	1373	+		Lung NSC(129;0.138)|all_lung(136;0.221)	383					B3KRC0|B3KRJ3|Q53XX3|Q8IUD9|Q8IUE4|Q96DV2|Q96DV3|Q9BYV5	Nonsense_Mutation	SNP	ENST00000315962.4	37	c.1147G>T	CCDS6184.1	.	.	.	.	.	.	.	.	.	.	G	38	7.265061	0.98175	.	.	ENSG00000147573	ENST00000315962;ENST00000353317;ENST00000276573	.	.	.	5.78	5.78	0.91487	.	0.418326	0.24328	N	0.039491	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.54805	T	0.06	.	10.9155	0.47133	0.0847:0.0:0.9153:0.0	.	.	.	.	X	383	.	ENSP00000276573:E383X	E	+	1	0	TRIM55	67227327	0.998000	0.40836	0.941000	0.38009	0.661000	0.39034	3.398000	0.52579	2.752000	0.94435	0.555000	0.69702	GAG		PASS	0.557	TRIM55-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378921.1	NM_184085		25	55	25	55	---	---	---	---
TRIM55	84675	broad.mit.edu	37	8	67064781	67064781	+	Missense_Mutation	SNP	G	G	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr8:67064781G>T	ENST00000315962.4	+	8	1528	c.1155G>T	c.(1153-1155)caG>caT	p.Q385H	TRIM55_ENST00000276573.7_Missense_Mutation_p.Q385H|TRIM55_ENST00000350034.4_Intron|TRIM55_ENST00000353317.5_Missense_Mutation_p.Q385H	NM_184085.1	NP_908973.1	Q9BYV6	TRI55_HUMAN	tripartite motif containing 55	385					signal transduction (GO:0007165)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)	identical protein binding (GO:0042802)|signal transducer activity (GO:0004871)|zinc ion binding (GO:0008270)	p.Q385H(1)		breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(13)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(2)	39		Lung NSC(129;0.138)|all_lung(136;0.221)	Epithelial(68;0.0136)|all cancers(69;0.0582)|BRCA - Breast invasive adenocarcinoma(89;0.0628)|OV - Ovarian serous cystadenocarcinoma(28;0.0904)			TGGAGCTGCAGGCTGCCCCTG	0.547																																						uc003xvv.2																			1	Substitution - Missense(1)		lung(1)	skin(3)|ovary(1)|central_nervous_system(1)	5						c.(1153-1155)CAG>CAT		tripartite motif-containing 55 isoform 1							58.0	64.0	62.0					8																	67064781		2203	4300	6503	SO:0001583	missense	84675					cytoplasm|microtubule|nucleus	signal transducer activity|zinc ion binding	g.chr8:67064781G>T	AJ291712	CCDS6184.1, CCDS6185.1, CCDS6186.1, CCDS6187.1	8q13.1	2013-01-09	2011-01-25	2004-11-17	ENSG00000147573	ENSG00000147573		"""RING-type (C3HC4) zinc fingers"", ""Tripartite motif containing / Tripartite motif containing"""	14215	protein-coding gene	gene with protein product		606469	"""ring finger protein 29"", ""tripartite motif-containing 55"""	RNF29		11243782	Standard	NM_033058		Approved	MURF-2	uc003xvv.3	Q9BYV6	OTTHUMG00000164473	ENST00000315962.4:c.1155G>T	8.37:g.67064781G>T	ENSP00000323913:p.Gln385His					TRIM55_uc003xvu.2_Missense_Mutation_p.Q385H|TRIM55_uc003xvw.2_Missense_Mutation_p.Q385H|TRIM55_uc003xvx.2_Intron	p.Q385H	NM_184085	NP_908973	Q9BYV6	TRI55_HUMAN	Epithelial(68;0.0136)|all cancers(69;0.0582)|BRCA - Breast invasive adenocarcinoma(89;0.0628)|OV - Ovarian serous cystadenocarcinoma(28;0.0904)		8	1381	+		Lung NSC(129;0.138)|all_lung(136;0.221)	385					B3KRC0|B3KRJ3|Q53XX3|Q8IUD9|Q8IUE4|Q96DV2|Q96DV3|Q9BYV5	Missense_Mutation	SNP	ENST00000315962.4	37	c.1155G>T	CCDS6184.1	.	.	.	.	.	.	.	.	.	.	G	14.19	2.461189	0.43736	.	.	ENSG00000147573	ENST00000315962;ENST00000353317;ENST00000276573	T;T;T	0.32515	1.45;1.54;1.47	5.92	3.17	0.36434	.	0.619727	0.16145	N	0.227544	T	0.33556	0.0867	M	0.62723	1.935	0.80722	D	1	P;B;P	0.38711	0.514;0.412;0.643	B;B;B	0.41236	0.351;0.188;0.264	T	0.10042	-1.0647	10	0.52906	T	0.07	.	9.6245	0.39741	0.2176:0.0:0.7824:0.0	.	385;385;385	Q9BYV6-2;Q9BYV6;Q9BYV6-3	.;TRI55_HUMAN;.	H	385	ENSP00000323913:Q385H;ENSP00000297348:Q385H;ENSP00000276573:Q385H	ENSP00000276573:Q385H	Q	+	3	2	TRIM55	67227335	0.987000	0.35691	0.984000	0.44739	0.769000	0.43574	1.201000	0.32259	0.853000	0.35312	0.650000	0.86243	CAG		PASS	0.547	TRIM55-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378921.1	NM_184085		24	63	24	63	---	---	---	---
MSC	9242	broad.mit.edu	37	8	72755880	72755880	+	Splice_Site	SNP	C	C	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr8:72755880C>T	ENST00000325509.4	-	1	823	c.534G>A	c.(532-534)ctG>ctA	p.L178L	MSC_ENST00000518440.1_5'Flank|RP11-383H13.1_ENST00000524152.1_5'UTR|RP11-383H13.1_ENST00000537896.1_Nonsense_Mutation_p.Q82*|RP11-383H13.1_ENST00000521467.1_Intron	NM_005098.3	NP_005089.2	O60682	MUSC_HUMAN	musculin	178					branchiomeric skeletal muscle development (GO:0014707)|diaphragm development (GO:0060539)|palate development (GO:0060021)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001206)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)	p.L178L(1)		endometrium(2)|large_intestine(4)|lung(13)|pancreas(1)|prostate(4)|skin(2)	26	Breast(64;0.176)		Epithelial(68;0.137)|BRCA - Breast invasive adenocarcinoma(89;0.203)			GCGCCCCTACCAGGTTCACTG	0.647											OREG0018826	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc003xyx.1																			1	Substitution - coding silent(1)		lung(1)		0						c.(532-534)CTG>CTA		musculin							29.0	32.0	31.0					8																	72755880		2176	4278	6454	SO:0001630	splice_region_variant	9242				transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity	g.chr8:72755880C>T		CCDS43746.1	8q13.3	2013-06-07	2010-04-28		ENSG00000178860	ENSG00000178860		"""Basic helix-loop-helix proteins"""	7321	protein-coding gene	gene with protein product	"""activated B-cell factor-1"""	603628	"""musculin (activated B-cell factor-1)"""			9584154, 10198176	Standard	NM_005098		Approved	ABF-1, bHLHa22	uc003xyx.1	O60682	OTTHUMG00000164489	ENST00000325509.4:c.534+1G>A	8.37:g.72755880C>T			OREG0018826	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1140	uc011lff.1_RNA|uc003xyy.2_5'Flank	p.L178L	NM_005098	NP_005089	O60682	MUSC_HUMAN	Epithelial(68;0.137)|BRCA - Breast invasive adenocarcinoma(89;0.203)		1	852	-	Breast(64;0.176)		178					O75946|Q53XZ2|Q9BRE7	Silent	SNP	ENST00000325509.4	37	c.534G>A	CCDS43746.1	.	.	.	.	.	.	.	.	.	.	C	40	8.279916	0.98740	.	.	ENSG00000235531	ENST00000537896	.	.	.	5.07	5.07	0.68467	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	18.4569	0.90724	0.0:1.0:0.0:0.0	.	.	.	.	X	82	.	ENSP00000440866:Q82X	Q	+	1	0	RP11-383H13.1	72918434	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	7.636000	0.83301	2.365000	0.80145	0.555000	0.69702	CAG		PASS	0.647	MSC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378974.1	NM_005098	Silent	10	46	10	46	---	---	---	---
KCNB2	9312	broad.mit.edu	37	8	73479991	73479991	+	Missense_Mutation	SNP	G	G	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr8:73479991G>T	ENST00000523207.1	+	2	610	c.22G>T	c.(22-24)Ggc>Tgc	p.G8C		NM_004770.2	NP_004761.2	Q92953	KCNB2_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 2	8					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|regulation of smooth muscle contraction (GO:0006940)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)	p.G8C(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	85	Breast(64;0.137)		Epithelial(68;0.105)		Dalfampridine(DB06637)	GGCTCCCCCGGGCTTAAACAG	0.498																																						uc003xzb.2																			1	Substitution - Missense(1)		lung(1)	skin(3)|large_intestine(1)|pancreas(1)|ovary(1)|central_nervous_system(1)	7						c.(22-24)GGC>TGC		potassium voltage-gated channel, Shab-related							82.0	83.0	82.0					8																	73479991		2203	4300	6503	SO:0001583	missense	9312				regulation of smooth muscle contraction	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|protein binding	g.chr8:73479991G>T	U69962	CCDS6209.1	8q13.2	2012-07-05			ENSG00000182674	ENSG00000182674		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6232	protein-coding gene	gene with protein product		607738				9612272, 16382104	Standard	NM_004770		Approved	Kv2.2	uc003xzb.3	Q92953	OTTHUMG00000164498	ENST00000523207.1:c.22G>T	8.37:g.73479991G>T	ENSP00000430846:p.Gly8Cys						p.G8C	NM_004770	NP_004761	Q92953	KCNB2_HUMAN	Epithelial(68;0.105)		2	610	+	Breast(64;0.137)		8			Cytoplasmic (Potential).		Q7Z7D0|Q9BXD3	Missense_Mutation	SNP	ENST00000523207.1	37	c.22G>T	CCDS6209.1	.	.	.	.	.	.	.	.	.	.	G	20.3	3.960081	0.74016	.	.	ENSG00000182674	ENST00000523207	D	0.97455	-4.39	6.11	5.24	0.73138	.	0.000000	0.32416	U	0.006124	D	0.97508	0.9184	L	0.50333	1.59	0.46241	D	0.998949	D	0.89917	1.0	D	0.66196	0.942	D	0.98154	1.0443	10	0.66056	D	0.02	.	15.3171	0.74089	0.0666:0.0:0.9334:0.0	.	8	Q92953	KCNB2_HUMAN	C	8	ENSP00000430846:G8C	ENSP00000430846:G8C	G	+	1	0	KCNB2	73642545	1.000000	0.71417	0.989000	0.46669	0.907000	0.53573	6.214000	0.72200	1.597000	0.50072	0.655000	0.94253	GGC		PASS	0.498	KCNB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378998.1	NM_004770		32	144	32	144	---	---	---	---
ZFHX4	79776	broad.mit.edu	37	8	77764403	77764403	+	Missense_Mutation	SNP	G	G	T	rs199976271	byFrequency	TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr8:77764403G>T	ENST00000521891.2	+	10	5694	c.5246G>T	c.(5245-5247)aGc>aTc	p.S1749I	ZFHX4_ENST00000518282.1_Missense_Mutation_p.S1723I|ZFHX4_ENST00000455469.2_Missense_Mutation_p.S1704I|ZFHX4_ENST00000050961.6_Missense_Mutation_p.S1704I	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	1704	Gln-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|zinc ion binding (GO:0008270)	p.S1749T(1)|p.S1749I(1)		NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			ACGGAGTTCAGCTTGGGGCCA	0.512										HNSCC(33;0.089)																												uc003yav.2																			2	Substitution - Missense(2)		lung(2)	ovary(8)|large_intestine(4)|breast(2)|lung(1)	15						c.(5110-5112)AGC>ATC		zinc finger homeodomain 4							51.0	49.0	49.0					8																	77764403		2057	4234	6291	SO:0001583	missense	79776					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr8:77764403G>T		CCDS47878.1, CCDS47878.2	8q21.11	2012-07-02	2007-07-16		ENSG00000091656	ENSG00000091656		"""Homeoboxes / ZF class"""	30939	protein-coding gene	gene with protein product		606940	"""zinc finger homeodomain 4"""			10873665, 11935336	Standard	NM_024721		Approved	ZFH4, FLJ20980	uc003yau.2	Q86UP3	OTTHUMG00000164557	ENST00000521891.2:c.5246G>T	8.37:g.77764403G>T	ENSP00000430497:p.Ser1749Ile	HNSCC(33;0.089)				ZFHX4_uc003yau.1_Missense_Mutation_p.S1749I|ZFHX4_uc003yaw.1_Missense_Mutation_p.S1704I	p.S1704I	NM_024721	NP_078997	Q86UP3	ZFHX4_HUMAN	BRCA - Breast invasive adenocarcinoma(89;0.0895)		10	5498	+			1704			Gln-rich.		G3V138|Q18PS0|Q6ZN20	Missense_Mutation	SNP	ENST00000521891.2	37	c.5111G>T	CCDS47878.2	.	.	.	.	.	.	.	.	.	.	G	12.58	1.979822	0.34942	.	.	ENSG00000091656	ENST00000521891;ENST00000399468;ENST00000455469;ENST00000050961;ENST00000518282	T;T;T;T	0.51325	0.71;0.75;0.72;0.72	4.75	4.75	0.60458	.	0.000000	0.53938	U	0.000058	T	0.51601	0.1684	L	0.51422	1.61	0.38263	D	0.941943	P;D;D	0.54207	0.94;0.965;0.965	B;P;P	0.47981	0.36;0.563;0.563	T	0.58132	-0.7690	10	0.48119	T	0.1	.	18.2946	0.90141	0.0:0.0:1.0:0.0	.	1704;1704;1749	Q86UP3;Q86UP3-4;G3V138	ZFHX4_HUMAN;.;.	I	1749;1749;1704;1704;1723	ENSP00000430497:S1749I;ENSP00000399605:S1704I;ENSP00000050961:S1704I;ENSP00000430848:S1723I	ENSP00000050961:S1704I	S	+	2	0	ZFHX4	77926958	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	6.210000	0.72176	2.636000	0.89361	0.637000	0.83480	AGC		PASS	0.512	ZFHX4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000379197.2	NM_024721		12	66	12	66	---	---	---	---
SLC10A5	347051	broad.mit.edu	37	8	82606632	82606632	+	Silent	SNP	C	C	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr8:82606632C>T	ENST00000518568.1	-	1	1777	c.576G>A	c.(574-576)ggG>ggA	p.G192G		NM_001010893.2	NP_001010893.1	Q5PT55	NTCP5_HUMAN	solute carrier family 10, member 5	192						integral component of membrane (GO:0016021)	bile acid:sodium symporter activity (GO:0008508)	p.G192G(1)		autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)	15						ACAAAAGAAACCCGCAAAATG	0.468																																						uc011lfs.1																			1	Substitution - coding silent(1)		lung(1)		0						c.(574-576)GGG>GGA		solute carrier family 10 (sodium/bile acid							63.0	70.0	67.0					8																	82606632		2203	4300	6503	SO:0001819	synonymous_variant	347051					integral to membrane	bile acid:sodium symporter activity	g.chr8:82606632C>T		CCDS34915.1	8q21.13	2013-07-18	2013-07-18		ENSG00000253598	ENSG00000253598		"""Solute carriers"""	22981	protein-coding gene	gene with protein product							Standard	NM_001010893		Approved		uc011lfs.2	Q5PT55	OTTHUMG00000164683	ENST00000518568.1:c.576G>A	8.37:g.82606632C>T							p.G192G	NM_001010893	NP_001010893	Q5PT55	NTCP5_HUMAN			1	576	-			192			Helical; (Potential).		B2RN26	Silent	SNP	ENST00000518568.1	37	c.576G>A	CCDS34915.1																																																																																				PASS	0.468	SLC10A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379736.1	XM_294493		38	186	38	186	---	---	---	---
ATP6V0D2	245972	broad.mit.edu	37	8	87153719	87153719	+	Missense_Mutation	SNP	T	T	G			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr8:87153719T>G	ENST00000285393.3	+	4	664	c.522T>G	c.(520-522)gaT>gaG	p.D174E	CTD-3118D11.2_ENST00000522679.1_RNA	NM_152565.1	NP_689778.1	Q8N8Y2	VA0D2_HUMAN	ATPase, H+ transporting, lysosomal 38kDa, V0 subunit d2	174					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)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|early endosome (GO:0005769)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|phagocytic vesicle membrane (GO:0030670)|proton-transporting V-type ATPase, V0 domain (GO:0033179)|vacuolar proton-transporting V-type ATPase complex (GO:0016471)	hydrogen ion transmembrane transporter activity (GO:0015078)	p.D174E(1)		breast(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(9)|prostate(1)	27						ATGCTCTAGATGAACTGAATA	0.333																																						uc003ydp.1																			1	Substitution - Missense(1)		lung(1)		0						c.(520-522)GAT>GAG		ATPase, H+ transporting, lysosomal 38kDa, V0							125.0	123.0	124.0					8																	87153719		2203	4300	6503	SO:0001583	missense	245972				ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	apical plasma membrane|endosome membrane|proton-transporting V-type ATPase, V0 domain|vacuolar proton-transporting V-type ATPase complex	hydrogen ion transmembrane transporter activity|protein binding	g.chr8:87153719T>G	AY079172	CCDS6241.1	8q21.3	2014-01-28	2006-01-20	2002-05-24	ENSG00000147614	ENSG00000147614		"""ATPases / V-type"""	18266	protein-coding gene	gene with protein product			"""ATPase, H+ transporting, lysosomal 38kD, V0 subunit d isoform 2"", ""ATPase, H+ transporting, lysosomal 38kDa, V0 subunit d isoform 2"", ""ATPase, H+ transporting, lysosomal 38kDa, V0 subunit D2"""			12384298	Standard	NM_152565		Approved	FLJ38708, VMA6, ATP6D2	uc003ydp.1	Q8N8Y2	OTTHUMG00000163637	ENST00000285393.3:c.522T>G	8.37:g.87153719T>G	ENSP00000285393:p.Asp174Glu						p.D174E	NM_152565	NP_689778	Q8N8Y2	VA0D2_HUMAN			4	591	+			174						Missense_Mutation	SNP	ENST00000285393.3	37	c.522T>G	CCDS6241.1	.	.	.	.	.	.	.	.	.	.	T	13.15	2.151830	0.38021	.	.	ENSG00000147614	ENST00000285393	T	0.38077	1.16	5.57	0.308	0.15815	.	0.538542	0.18557	N	0.137736	T	0.40119	0.1104	M	0.85462	2.755	0.49483	D	0.999796	B	0.26975	0.165	B	0.34038	0.174	T	0.30707	-0.9969	10	0.48119	T	0.1	-11.4892	5.5427	0.17047	0.1193:0.2102:0.0:0.6705	.	174	Q8N8Y2	VA0D2_HUMAN	E	174	ENSP00000285393:D174E	ENSP00000285393:D174E	D	+	3	2	ATP6V0D2	87222835	1.000000	0.71417	0.614000	0.29051	0.635000	0.38103	0.940000	0.28992	0.406000	0.25560	0.528000	0.53228	GAT		PASS	0.333	ATP6V0D2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374651.1	NM_152565		40	102	40	102	---	---	---	---
SLC7A13	157724	broad.mit.edu	37	8	87229835	87229835	+	Missense_Mutation	SNP	G	G	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr8:87229835G>T	ENST00000297524.3	-	3	1146	c.1043C>A	c.(1042-1044)tCc>tAc	p.S348Y	SLC7A13_ENST00000520624.1_5'Flank|SLC7A13_ENST00000419776.2_Missense_Mutation_p.S339Y	NM_138817.2	NP_620172.2	Q8TCU3	S7A13_HUMAN	solute carrier family 7 (anionic amino acid transporter), member 13	348						integral component of membrane (GO:0016021)	amino acid transmembrane transporter activity (GO:0015171)	p.S348Y(1)		breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	45						AATTGCAAGGGATCCCAAAGT	0.358																																						uc003ydq.1																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1						c.(1042-1044)TCC>TAC		solute carrier family 7, (cationic amino acid							68.0	76.0	73.0					8																	87229835		2203	4300	6503	SO:0001583	missense	157724					integral to membrane	amino acid transmembrane transporter activity	g.chr8:87229835G>T	AJ417661	CCDS34917.1	8q21.3	2013-07-15	2011-07-12		ENSG00000164893	ENSG00000164893		"""Solute carriers"""	23092	protein-coding gene	gene with protein product						11907033, 11943479	Standard	XM_005250804		Approved	AGT-1, XAT2	uc003ydq.1	Q8TCU3	OTTHUMG00000163663	ENST00000297524.3:c.1043C>A	8.37:g.87229835G>T	ENSP00000297524:p.Ser348Tyr					SLC7A13_uc003ydr.1_Missense_Mutation_p.S339Y	p.S348Y	NM_138817	NP_620172	Q8TCU3	S7A13_HUMAN			3	1141	-			348			Helical; Name=9; (Potential).		Q05C37|Q08AH9|Q96N84	Missense_Mutation	SNP	ENST00000297524.3	37	c.1043C>A	CCDS34917.1	.	.	.	.	.	.	.	.	.	.	G	21.2	4.117207	0.77323	.	.	ENSG00000164893	ENST00000297524;ENST00000419776	D;D	0.90324	-2.65;-2.65	5.27	5.27	0.74061	Amino acid permease domain (1);	0.313342	0.27345	N	0.019790	D	0.95124	0.8420	M	0.77103	2.36	0.09310	N	0.999991	D;D	0.89917	0.989;1.0	D;D	0.87578	0.929;0.998	D	0.89646	0.3866	10	0.52906	T	0.07	.	16.7569	0.85502	0.0:0.0:1.0:0.0	.	339;348	Q8TCU3-2;Q8TCU3	.;S7A13_HUMAN	Y	348;339	ENSP00000297524:S348Y;ENSP00000410982:S339Y	ENSP00000297524:S348Y	S	-	2	0	SLC7A13	87298951	0.982000	0.34865	0.011000	0.14972	0.559000	0.35586	5.353000	0.66034	2.599000	0.87857	0.650000	0.86243	TCC		PASS	0.358	SLC7A13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374704.1	NM_138817		40	141	40	141	---	---	---	---
SLC7A13	157724	broad.mit.edu	37	8	87235208	87235208	+	Silent	SNP	G	G	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr8:87235208G>T	ENST00000297524.3	-	2	913	c.810C>A	c.(808-810)ctC>ctA	p.L270L	SLC7A13_ENST00000520624.1_5'UTR|SLC7A13_ENST00000419776.2_Silent_p.L261L	NM_138817.2	NP_620172.2	Q8TCU3	S7A13_HUMAN	solute carrier family 7 (anionic amino acid transporter), member 13	270						integral component of membrane (GO:0016021)	amino acid transmembrane transporter activity (GO:0015171)	p.L270L(1)		breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	45						AACCTGAAGAGAGAATTTCCC	0.383																																						uc003ydq.1																			1	Substitution - coding silent(1)		lung(1)	central_nervous_system(1)	1						c.(808-810)CTC>CTA		solute carrier family 7, (cationic amino acid							122.0	125.0	124.0					8																	87235208		2203	4300	6503	SO:0001819	synonymous_variant	157724					integral to membrane	amino acid transmembrane transporter activity	g.chr8:87235208G>T	AJ417661	CCDS34917.1	8q21.3	2013-07-15	2011-07-12		ENSG00000164893	ENSG00000164893		"""Solute carriers"""	23092	protein-coding gene	gene with protein product						11907033, 11943479	Standard	XM_005250804		Approved	AGT-1, XAT2	uc003ydq.1	Q8TCU3	OTTHUMG00000163663	ENST00000297524.3:c.810C>A	8.37:g.87235208G>T						SLC7A13_uc003ydr.1_Silent_p.L261L	p.L270L	NM_138817	NP_620172	Q8TCU3	S7A13_HUMAN			2	908	-			270			Extracellular (Potential).		Q05C37|Q08AH9|Q96N84	Silent	SNP	ENST00000297524.3	37	c.810C>A	CCDS34917.1																																																																																				PASS	0.383	SLC7A13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374704.1	NM_138817		72	110	72	110	---	---	---	---
MMP16	4325	broad.mit.edu	37	8	89053926	89053926	+	Missense_Mutation	SNP	A	A	C			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr8:89053926A>C	ENST00000286614.6	-	10	1868	c.1587T>G	c.(1585-1587)ttT>ttG	p.F529L		NM_005941.4	NP_005932.2	P51512	MMP16_HUMAN	matrix metallopeptidase 16 (membrane-inserted)	529					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.F529L(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)	CACAGCCCATAAAATCCTTGA	0.428																																						uc003yeb.3																			1	Substitution - Missense(1)		lung(1)	upper_aerodigestive_tract(2)|ovary(2)|central_nervous_system(1)|urinary_tract(1)|skin(1)|kidney(1)	8						c.(1585-1587)TTT>TTG		matrix metalloproteinase 16 isoform 1							246.0	203.0	217.0					8																	89053926		2203	4300	6503	SO:0001583	missense	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.chr8:89053926A>C	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.1587T>G	8.37:g.89053926A>C	ENSP00000286614:p.Phe529Leu						p.F529L	NM_005941	NP_005932	P51512	MMP16_HUMAN			10	1869	-			529			Hemopexin-like 4.|Extracellular (Potential).		B2RAN7|Q14824|Q52H48	Missense_Mutation	SNP	ENST00000286614.6	37	c.1587T>G	CCDS6246.1	.	.	.	.	.	.	.	.	.	.	A	16.04	3.009876	0.54361	.	.	ENSG00000156103	ENST00000286614	T	0.07114	3.22	5.86	4.7	0.59300	Hemopexin/matrixin (2);	0.000000	0.85682	D	0.000000	T	0.22282	0.0537	M	0.91612	3.225	0.80722	D	1	B	0.24132	0.098	B	0.37387	0.248	T	0.01711	-1.1290	10	0.87932	D	0	.	9.1026	0.36678	0.8595:0.0:0.1405:0.0	.	529	P51512	MMP16_HUMAN	L	529	ENSP00000286614:F529L	ENSP00000286614:F529L	F	-	3	2	MMP16	89123042	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.986000	0.49370	1.036000	0.39998	0.533000	0.62120	TTT		PASS	0.428	MMP16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375304.2	NM_005941		47	71	47	71	---	---	---	---
MMP16	4325	broad.mit.edu	37	8	89128775	89128775	+	Silent	SNP	G	G	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr8:89128775G>A	ENST00000286614.6	-	6	1325	c.1044C>T	c.(1042-1044)aaC>aaT	p.N348N	MMP16_ENST00000544227.1_5'UTR	NM_005941.4	NP_005932.2	P51512	MMP16_HUMAN	matrix metallopeptidase 16 (membrane-inserted)	348					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.N348N(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)	TAGCTAGAGTGTTAAAGTTCC	0.443																																						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.(1042-1044)AAC>AAT		matrix metalloproteinase 16 isoform 1							113.0	111.0	111.0					8																	89128775		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.chr8:89128775G>A	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.1044C>T	8.37:g.89128775G>A						MMP16_uc003yec.2_Silent_p.N348N	p.N348N	NM_005941	NP_005932	P51512	MMP16_HUMAN			6	1326	-			348			Extracellular (Potential).|Hemopexin-like 1.		B2RAN7|Q14824|Q52H48	Silent	SNP	ENST00000286614.6	37	c.1044C>T	CCDS6246.1																																																																																				PASS	0.443	MMP16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375304.2	NM_005941		14	89	14	89	---	---	---	---
MMP16	4325	broad.mit.edu	37	8	89128850	89128850	+	Silent	SNP	T	T	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr8:89128850T>A	ENST00000286614.6	-	6	1250	c.969A>T	c.(967-969)ccA>ccT	p.P323P	MMP16_ENST00000544227.1_5'UTR	NM_005941.4	NP_005932.2	P51512	MMP16_HUMAN	matrix metallopeptidase 16 (membrane-inserted)	323					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.P323P(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)	GAGGAGGTTTTGGCCTGTCAT	0.542																																						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.(967-969)CCA>CCT		matrix metalloproteinase 16 isoform 1							189.0	187.0	187.0					8																	89128850		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.chr8:89128850T>A	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.969A>T	8.37:g.89128850T>A						MMP16_uc003yec.2_Silent_p.P323P	p.P323P	NM_005941	NP_005932	P51512	MMP16_HUMAN			6	1251	-			323			Extracellular (Potential).		B2RAN7|Q14824|Q52H48	Silent	SNP	ENST00000286614.6	37	c.969A>T	CCDS6246.1																																																																																				PASS	0.542	MMP16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375304.2	NM_005941		52	194	52	194	---	---	---	---
SLC26A7	115111	broad.mit.edu	37	8	92406201	92406201	+	Silent	SNP	A	A	G			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr8:92406201A>G	ENST00000276609.3	+	18	2108	c.1869A>G	c.(1867-1869)ctA>ctG	p.L623L	SLC26A7_ENST00000523719.1_Silent_p.L623L|SLC26A7_ENST00000309536.2_Silent_p.L623L|SLC26A7_ENST00000520249.1_3'UTR	NM_001282356.1|NM_052832.2	NP_001269285.1|NP_439897.1			solute carrier family 26 (anion exchanger), member 7									p.L623L(2)		breast(1)|cervix(1)|endometrium(4)|large_intestine(10)|lung(26)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	50			BRCA - Breast invasive adenocarcinoma(11;0.00802)			ATGGAAACCTAGACTCAGAGA	0.348																																						uc003yex.2																			2	Substitution - coding silent(2)		lung(2)	ovary(2)	2						c.(1867-1869)CTA>CTG		solute carrier family 26, member 7 isoform a							93.0	94.0	94.0					8																	92406201		2203	4300	6503	SO:0001819	synonymous_variant	115111					basolateral plasma membrane|integral to membrane|recycling endosome membrane	anion:anion antiporter activity|bicarbonate transmembrane transporter activity|chloride channel activity|oxalate transmembrane transporter activity|sulfate transmembrane transporter activity	g.chr8:92406201A>G	AF331521	CCDS6254.1, CCDS6255.1, CCDS75765.1	8q23	2013-07-18	2013-07-18		ENSG00000147606	ENSG00000147606		"""Solute carriers"""	14467	protein-coding gene	gene with protein product		608479	"""solute carrier family 26, member 7"""			11834742, 11829495, 16524946	Standard	NM_134266		Approved	SUT2	uc003yez.3	Q8TE54	OTTHUMG00000164062	ENST00000276609.3:c.1869A>G	8.37:g.92406201A>G						SLC26A7_uc003yey.2_RNA|SLC26A7_uc003yez.2_Silent_p.L623L|SLC26A7_uc003yfa.2_Silent_p.L623L	p.L623L	NM_052832	NP_439897	Q8TE54	S26A7_HUMAN	BRCA - Breast invasive adenocarcinoma(11;0.00802)		19	2147	+			623			STAS.|Cytoplasmic (Potential).			Silent	SNP	ENST00000276609.3	37	c.1869A>G	CCDS6254.1																																																																																				PASS	0.348	SLC26A7-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377011.1			60	103	60	103	---	---	---	---
OSR2	116039	broad.mit.edu	37	8	99961435	99961435	+	Missense_Mutation	SNP	C	C	G			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr8:99961435C>G	ENST00000297565.4	+	2	751	c.255C>G	c.(253-255)ttC>ttG	p.F85L	OSR2_ENST00000523368.1_Missense_Mutation_p.F85L|OSR2_ENST00000457907.2_Missense_Mutation_p.F206L|OSR2_ENST00000522510.1_Missense_Mutation_p.F85L|OSR2_ENST00000435298.2_Missense_Mutation_p.F85L	NM_001142462.1	NP_001135934.1	Q8N2R0	OSR2_HUMAN	odd-skipped related transciption factor 2	85					bone morphogenesis (GO:0060349)|cell differentiation (GO:0030154)|chondrocyte differentiation (GO:0002062)|embryo development (GO:0009790)|embryonic digit morphogenesis (GO:0042733)|embryonic forelimb morphogenesis (GO:0035115)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic skeletal joint development (GO:0072498)|embryonic skeletal joint morphogenesis (GO:0060272)|embryonic skeletal limb joint morphogenesis (GO:0036023)|embryonic skeletal system morphogenesis (GO:0048704)|eyelid development in camera-type eye (GO:0061029)|head development (GO:0060322)|mesonephros development (GO:0001823)|metanephros development (GO:0001656)|middle ear morphogenesis (GO:0042474)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|odontogenesis (GO:0042476)|osteoblast proliferation (GO:0033687)|palate development (GO:0060021)|positive regulation of bone mineralization (GO:0030501)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of gastrulation (GO:2000543)|positive regulation of gene expression (GO:0010628)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|pronephros development (GO:0048793)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)	p.F85L(1)		NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(14)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25	Breast(36;4.14e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.0136)			GCTTCCCCTTCCCGGCCCTGC	0.657																																						uc003yir.2																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1						c.(253-255)TTC>TTG		odd-skipped related 2 isoform a							65.0	73.0	70.0					8																	99961435		1990	4144	6134	SO:0001583	missense	116039				bone morphogenesis|chondrocyte differentiation|embryonic digit morphogenesis|embryonic forelimb morphogenesis|embryonic hindlimb morphogenesis|embryonic leg joint morphogenesis|embryonic skeletal joint morphogenesis|eyelid development in camera-type eye|head development|mesonephros development|metanephros development|middle ear morphogenesis|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|osteoblast proliferation|palate development|positive regulation of bone mineralization|positive regulation of epithelial cell proliferation|positive regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|zinc ion binding	g.chr8:99961435C>G	AY038072	CCDS47901.1, CCDS47902.1, CCDS69520.1	8q22.2	2013-10-17	2013-10-17			ENSG00000164920		"""Zinc fingers, C2H2-type"""	15830	protein-coding gene	gene with protein product		611297	"""odd-skipped related 2 (Drosophila)"""				Standard	XM_005250779		Approved	FLJ90037	uc003yir.3	Q8N2R0		ENST00000297565.4:c.255C>G	8.37:g.99961435C>G	ENSP00000297565:p.Phe85Leu					OSR2_uc010mbn.2_Missense_Mutation_p.F85L|OSR2_uc003yiq.2_Missense_Mutation_p.F85L|OSR2_uc011lgx.1_Missense_Mutation_p.F206L	p.F85L	NM_001142462	NP_001135934	Q8N2R0	OSR2_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;0.0136)		2	790	+	Breast(36;4.14e-07)		85					A8K626|B4E3B7|Q96AM6|Q96LB6|Q96LB7	Missense_Mutation	SNP	ENST00000297565.4	37	c.255C>G	CCDS47901.1	.	.	.	.	.	.	.	.	.	.	C	7.069	0.567986	0.13560	.	.	ENSG00000164920	ENST00000523368;ENST00000297565;ENST00000435298;ENST00000522510;ENST00000457907;ENST00000520951;ENST00000518199	T;T;T;T;T;T;T	0.06608	3.38;3.36;3.59;3.36;3.28;3.51;3.63	4.55	1.65	0.23941	.	0.055426	0.64402	N	0.000001	T	0.03871	0.0109	N	0.24115	0.695	0.52501	D	0.999954	B;B;B;B	0.14805	0.011;0.0;0.001;0.002	B;B;B;B	0.09377	0.004;0.0;0.001;0.002	T	0.47947	-0.9077	9	.	.	.	-9.9646	7.3787	0.26843	0.136:0.7157:0.0:0.1483	.	206;85;85;85	B4E3B7;E5RH04;Q8N2R0;Q8N2R0-2	.;.;OSR2_HUMAN;.	L	85;85;85;85;206;138;85	ENSP00000430041:F85L;ENSP00000297565:F85L;ENSP00000402862:F85L;ENSP00000430780:F85L;ENSP00000414657:F206L;ENSP00000430074:F138L;ENSP00000429910:F85L	.	F	+	3	2	OSR2	100030611	0.998000	0.40836	1.000000	0.80357	0.992000	0.81027	0.664000	0.25068	0.205000	0.20568	0.655000	0.94253	TTC		PASS	0.657	OSR2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000379505.1	NM_053001		59	94	59	94	---	---	---	---
OSR2	116039	broad.mit.edu	37	8	99963899	99963899	+	Missense_Mutation	SNP	C	C	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr8:99963899C>A	ENST00000297565.4	+	4	1405	c.909C>A	c.(907-909)agC>agA	p.S303R	OSR2_ENST00000457907.2_Missense_Mutation_p.S424R|OSR2_ENST00000522510.1_Missense_Mutation_p.S303R|OSR2_ENST00000435298.2_Missense_Mutation_p.A276D	NM_001142462.1	NP_001135934.1	Q8N2R0	OSR2_HUMAN	odd-skipped related transciption factor 2	303					bone morphogenesis (GO:0060349)|cell differentiation (GO:0030154)|chondrocyte differentiation (GO:0002062)|embryo development (GO:0009790)|embryonic digit morphogenesis (GO:0042733)|embryonic forelimb morphogenesis (GO:0035115)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic skeletal joint development (GO:0072498)|embryonic skeletal joint morphogenesis (GO:0060272)|embryonic skeletal limb joint morphogenesis (GO:0036023)|embryonic skeletal system morphogenesis (GO:0048704)|eyelid development in camera-type eye (GO:0061029)|head development (GO:0060322)|mesonephros development (GO:0001823)|metanephros development (GO:0001656)|middle ear morphogenesis (GO:0042474)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|odontogenesis (GO:0042476)|osteoblast proliferation (GO:0033687)|palate development (GO:0060021)|positive regulation of bone mineralization (GO:0030501)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of gastrulation (GO:2000543)|positive regulation of gene expression (GO:0010628)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|pronephros development (GO:0048793)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)	p.S303R(1)		NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(14)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25	Breast(36;4.14e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.0136)			GGCGGCACAGCCTGACTCACA	0.602																																						uc003yir.2																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1						c.(907-909)AGC>AGA		odd-skipped related 2 isoform a							39.0	42.0	41.0					8																	99963899		2013	4170	6183	SO:0001583	missense	116039				bone morphogenesis|chondrocyte differentiation|embryonic digit morphogenesis|embryonic forelimb morphogenesis|embryonic hindlimb morphogenesis|embryonic leg joint morphogenesis|embryonic skeletal joint morphogenesis|eyelid development in camera-type eye|head development|mesonephros development|metanephros development|middle ear morphogenesis|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|osteoblast proliferation|palate development|positive regulation of bone mineralization|positive regulation of epithelial cell proliferation|positive regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|zinc ion binding	g.chr8:99963899C>A	AY038072	CCDS47901.1, CCDS47902.1, CCDS69520.1	8q22.2	2013-10-17	2013-10-17			ENSG00000164920		"""Zinc fingers, C2H2-type"""	15830	protein-coding gene	gene with protein product		611297	"""odd-skipped related 2 (Drosophila)"""				Standard	XM_005250779		Approved	FLJ90037	uc003yir.3	Q8N2R0		ENST00000297565.4:c.909C>A	8.37:g.99963899C>A	ENSP00000297565:p.Ser303Arg					OSR2_uc003yiq.2_Missense_Mutation_p.A276D|OSR2_uc011lgx.1_Missense_Mutation_p.S424R	p.S303R	NM_001142462	NP_001135934	Q8N2R0	OSR2_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;0.0136)		4	1444	+	Breast(36;4.14e-07)		303			C2H2-type 5; degenerate.		A8K626|B4E3B7|Q96AM6|Q96LB6|Q96LB7	Missense_Mutation	SNP	ENST00000297565.4	37	c.909C>A	CCDS47901.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	15.30|15.30	2.794066|2.794066	0.50102|0.50102	.|.	.|.	ENSG00000164920|ENSG00000164920	ENST00000435298|ENST00000297565;ENST00000522510;ENST00000457907	T|T;T;T	0.05717|0.49139	3.4|0.79;0.79;0.79	5.32|5.32	4.43|4.43	0.53597|0.53597	.|Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.52773|0.52773	0.1755|0.1755	.|.	.|.	.|.	0.43913|0.43913	D|D	0.996557|0.996557	B|P;P	0.28880|0.51653	0.226|0.947;0.913	B|P;P	0.31101|0.53861	0.124|0.736;0.727	T|T	0.49031|0.49031	-0.8981|-0.8981	7|8	.|.	.|.	.|.	-11.7917|-11.7917	8.97|8.97	0.35901|0.35901	0.0:0.7562:0.0:0.2438|0.0:0.7562:0.0:0.2438	.|.	276|424;303	Q8N2R0-2|B4E3B7;Q8N2R0	.|.;OSR2_HUMAN	D|R	276|303;303;424	ENSP00000402862:A276D|ENSP00000297565:S303R;ENSP00000430780:S303R;ENSP00000414657:S424R	.|.	A|S	+|+	2|3	0|2	OSR2|OSR2	100033075|100033075	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	1.141000|1.141000	0.31528|0.31528	2.753000|2.753000	0.94483|0.94483	0.655000|0.655000	0.94253|0.94253	GCC|AGC		PASS	0.602	OSR2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000379505.1	NM_053001		6	31	6	31	---	---	---	---
UBR5	51366	broad.mit.edu	37	8	103324640	103324640	+	Missense_Mutation	SNP	C	C	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr8:103324640C>A	ENST00000520539.1	-	17	2687	c.2081G>T	c.(2080-2082)aGc>aTc	p.S694I	UBR5_ENST00000521922.1_Missense_Mutation_p.S688I|UBR5_ENST00000220959.4_Missense_Mutation_p.S694I	NM_001282873.1|NM_015902.5	NP_001269802.1|NP_056986.2	O95071	UBR5_HUMAN	ubiquitin protein ligase E3 component n-recognin 5	694					cell proliferation (GO:0008283)|cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|negative regulation of double-strand break repair (GO:2000780)|negative regulation of histone H2A K63-linked ubiquitination (GO:1901315)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of protein import into nucleus, translocation (GO:0033160)|progesterone receptor signaling pathway (GO:0050847)|protein polyubiquitination (GO:0000209)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	ligase activity (GO:0016874)|RNA binding (GO:0003723)|ubiquitin-protein transferase activity (GO:0004842)|ubiquitin-ubiquitin ligase activity (GO:0034450)|zinc ion binding (GO:0008270)	p.S694I(1)		NS(1)|breast(13)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(19)|liver(1)|lung(51)|ovary(6)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	124	all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05)		OV - Ovarian serous cystadenocarcinoma(57;0.000442)			TGGACCAGAGCTGTTCTGACA	0.408																																					Ovarian(131;96 1741 5634 7352 27489)	uc003ykr.1																			1	Substitution - Missense(1)		lung(1)	lung(16)|ovary(4)|large_intestine(3)|breast(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|kidney(1)	28						c.(2080-2082)AGC>ATC		ubiquitin protein ligase E3 component n-recognin							108.0	102.0	104.0					8																	103324640		2203	4300	6503	SO:0001583	missense	51366				cell proliferation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of catenin import into nucleus|positive regulation of protein import into nucleus, translocation|progesterone receptor signaling pathway|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to DNA damage stimulus	nucleus|soluble fraction	protein binding|RNA binding|ubiquitin-ubiquitin ligase activity|zinc ion binding	g.chr8:103324640C>A	AF006010	CCDS34933.1, CCDS64946.1	8q22	2008-06-23	2007-06-19	2007-06-19	ENSG00000104517	ENSG00000104517		"""Ubiquitin protein ligase E3 component n-recognins"""	16806	protein-coding gene	gene with protein product		608413	"""E3 ubiquitin protein ligase, HECT domain containing, 1"""	EDD1		10030672, 16055722	Standard	NM_015902		Approved	DD5, HYD, EDD, KIAA0896	uc003ykr.2	O95071	OTTHUMG00000164755	ENST00000520539.1:c.2081G>T	8.37:g.103324640C>A	ENSP00000429084:p.Ser694Ile					UBR5_uc003yks.1_Missense_Mutation_p.S694I	p.S694I	NM_015902	NP_056986	O95071	UBR5_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;0.000442)		17	2114	-	all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05)		694					B2RP24|J3KMW7|O94970|Q9NPL3	Missense_Mutation	SNP	ENST00000520539.1	37	c.2081G>T	CCDS34933.1	.	.	.	.	.	.	.	.	.	.	C	10.65	1.409975	0.25465	.	.	ENSG00000104517	ENST00000520539;ENST00000220959;ENST00000521922	T;T;T	0.50548	0.74;0.74;0.74	5.03	4.09	0.47781	.	0.218610	0.47093	D	0.000251	T	0.37999	0.1024	L	0.43152	1.355	0.41165	D	0.986129	B;B	0.20671	0.047;0.047	B;B	0.14578	0.011;0.011	T	0.27157	-1.0082	10	0.62326	D	0.03	.	8.7177	0.34421	0.0:0.7678:0.1474:0.0848	.	688;694	E7EMW7;O95071	.;UBR5_HUMAN	I	694;694;688	ENSP00000429084:S694I;ENSP00000220959:S694I;ENSP00000427819:S688I	ENSP00000220959:S694I	S	-	2	0	UBR5	103393816	0.879000	0.30193	0.977000	0.42913	0.389000	0.30415	0.179000	0.16840	1.010000	0.39314	0.591000	0.81541	AGC		PASS	0.408	UBR5-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000380075.2	NM_015902		64	87	64	87	---	---	---	---
EBAG9	9166	broad.mit.edu	37	8	110569170	110569170	+	Missense_Mutation	SNP	A	A	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr8:110569170A>T	ENST00000337573.5	+	5	628	c.328A>T	c.(328-330)Att>Ttt	p.I110F	EBAG9_ENST00000395785.2_Missense_Mutation_p.I110F|EBAG9_ENST00000529502.1_3'UTR|EBAG9_ENST00000531677.1_Missense_Mutation_p.I110F	NM_001278938.1|NM_004215.3	NP_001265867.1|NP_004206.1	O00559	RCAS1_HUMAN	estrogen receptor binding site associated, antigen, 9	110					regulation of cell growth (GO:0001558)	focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|secretory granule (GO:0030141)	peptidase activator activity involved in apoptotic process (GO:0016505)	p.I110F(1)		cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(2)	10			OV - Ovarian serous cystadenocarcinoma(57;1.39e-14)			TCAGATTGTTATTAAGAAGAG	0.308																																						uc003ynf.2																			1	Substitution - Missense(1)		lung(1)		0						c.(328-330)ATT>TTT		estrogen receptor binding site associated							64.0	61.0	62.0					8																	110569170		2202	4297	6499	SO:0001583	missense	9166				apoptosis|regulation of cell growth	focal adhesion|Golgi membrane|integral to membrane|soluble fraction	apoptotic protease activator activity	g.chr8:110569170A>T	AB007619	CCDS6313.1	8q23	2013-03-07			ENSG00000147654	ENSG00000147654			3123	protein-coding gene	gene with protein product		605772					Standard	NM_004215		Approved	EB9, RCAS1	uc003ynf.3	O00559	OTTHUMG00000165346	ENST00000337573.5:c.328A>T	8.37:g.110569170A>T	ENSP00000337675:p.Ile110Phe					EBAG9_uc010mcn.1_RNA|EBAG9_uc003yng.2_Missense_Mutation_p.I110F	p.I110F	NM_198120	NP_936056	O00559	RCAS1_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;1.39e-14)		5	563	+			110			Cytoplasmic (Potential).		A8K3N6|Q5Y8C7|Q6IB20|Q9BS76	Missense_Mutation	SNP	ENST00000337573.5	37	c.328A>T	CCDS6313.1	.	.	.	.	.	.	.	.	.	.	A	14.95	2.689321	0.48097	.	.	ENSG00000147654	ENST00000395785;ENST00000529931;ENST00000337573;ENST00000530629;ENST00000531677	.	.	.	5.71	3.32	0.38043	.	0.114000	0.64402	D	0.000007	T	0.33904	0.0879	N	0.24115	0.695	0.46521	D	0.999085	P	0.34724	0.465	B	0.34242	0.178	T	0.12682	-1.0538	9	0.56958	D	0.05	-4.1744	5.067	0.14587	0.723:0.0:0.1438:0.1332	.	110	O00559	RCAS1_HUMAN	F	110;13;110;110;110	.	ENSP00000337675:I110F	I	+	1	0	EBAG9	110638346	0.996000	0.38824	0.996000	0.52242	0.992000	0.81027	0.834000	0.27518	0.525000	0.28522	-0.263000	0.10527	ATT		PASS	0.308	EBAG9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383536.1	NM_004215		24	56	24	56	---	---	---	---
CSMD3	114788	broad.mit.edu	37	8	113332171	113332171	+	Missense_Mutation	SNP	G	G	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr8:113332171G>T	ENST00000297405.5	-	46	7449	c.7205C>A	c.(7204-7206)cCc>cAc	p.P2402H	CSMD3_ENST00000352409.3_Missense_Mutation_p.P2332H|CSMD3_ENST00000343508.3_Missense_Mutation_p.P2362H|CSMD3_ENST00000455883.2_Missense_Mutation_p.P2298H	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	2402	Sushi 13. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.P2402H(2)|p.P2362H(1)		breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						TTCAGCATTGGGCACAGGTGG	0.363										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																												uc003ynu.2																			3	Substitution - Missense(3)		lung(2)|haematopoietic_and_lymphoid_tissue(1)	ovary(21)|lung(11)|skin(11)|kidney(8)|large_intestine(6)|upper_aerodigestive_tract(2)|central_nervous_system(2)|urinary_tract(1)|breast(1)	63						c.(7204-7206)CCC>CAC		CUB and Sushi multiple domains 3 isoform 1							126.0	127.0	127.0					8																	113332171		2203	4300	6503	SO:0001583	missense	114788					integral to membrane|plasma membrane		g.chr8:113332171G>T	AY210419	CCDS6315.1, CCDS6316.2, CCDS6317.1	8q23.3	2007-01-06			ENSG00000164796	ENSG00000164796			19291	protein-coding gene	gene with protein product		608399					Standard	NM_052900		Approved		uc003ynu.3	Q7Z407	OTTHUMG00000157027	ENST00000297405.5:c.7205C>A	8.37:g.113332171G>T	ENSP00000297405:p.Pro2402His	HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				CSMD3_uc003yns.2_Missense_Mutation_p.P1604H|CSMD3_uc003ynt.2_Missense_Mutation_p.P2362H|CSMD3_uc011lhx.1_Missense_Mutation_p.P2298H|CSMD3_uc003ynw.1_Missense_Mutation_p.P113H	p.P2402H	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN			46	7364	-			2402			Extracellular (Potential).|Sushi 13.		Q96PZ3	Missense_Mutation	SNP	ENST00000297405.5	37	c.7205C>A	CCDS6315.1	.	.	.	.	.	.	.	.	.	.	G	28.1	4.887534	0.91814	.	.	ENSG00000164796	ENST00000343508;ENST00000297405;ENST00000339701;ENST00000455883;ENST00000352409	T;T;T;T;T	0.68624	-0.34;-0.34;-0.34;-0.34;-0.34	5.07	5.07	0.68467	Complement control module (2);Sushi/SCR/CCP (3);	0.084542	0.49305	D	0.000147	D	0.82384	0.5025	M	0.79011	2.435	0.47407	D	0.999418	D;D;D	0.89917	0.984;0.976;1.0	P;D;D	0.83275	0.882;0.928;0.996	T	0.82354	-0.0499	10	0.42905	T	0.14	.	18.7972	0.91999	0.0:0.0:1.0:0.0	.	2298;2402;2362	Q7Z407-3;Q7Z407;Q7Z407-2	.;CSMD3_HUMAN;.	H	2362;2402;1672;2298;2332	ENSP00000345799:P2362H;ENSP00000297405:P2402H;ENSP00000341558:P1672H;ENSP00000412263:P2298H;ENSP00000343124:P2332H	ENSP00000297405:P2402H	P	-	2	0	CSMD3	113401347	1.000000	0.71417	0.997000	0.53966	0.985000	0.73830	7.918000	0.87506	2.517000	0.84864	0.579000	0.79373	CCC		PASS	0.363	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1	NM_052900		33	176	33	176	---	---	---	---
CSMD3	114788	broad.mit.edu	37	8	113353715	113353715	+	Missense_Mutation	SNP	C	C	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr8:113353715C>A	ENST00000297405.5	-	42	6887	c.6643G>T	c.(6643-6645)Gta>Tta	p.V2215L	CSMD3_ENST00000352409.3_Missense_Mutation_p.V2145L|CSMD3_ENST00000343508.3_Missense_Mutation_p.V2175L|CSMD3_ENST00000455883.2_Missense_Mutation_p.V2111L	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	2215	CUB 12. {ECO:0000255|PROSITE- ProRule:PRU00059}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.V2175L(1)|p.V2215L(1)		breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						CCTTGGTATACAATATGAAAC	0.303										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																												uc003ynu.2																			2	Substitution - Missense(2)		lung(2)	ovary(21)|lung(11)|skin(11)|kidney(8)|large_intestine(6)|upper_aerodigestive_tract(2)|central_nervous_system(2)|urinary_tract(1)|breast(1)	63						c.(6643-6645)GTA>TTA		CUB and Sushi multiple domains 3 isoform 1							78.0	77.0	77.0					8																	113353715		2203	4300	6503	SO:0001583	missense	114788					integral to membrane|plasma membrane		g.chr8:113353715C>A	AY210419	CCDS6315.1, CCDS6316.2, CCDS6317.1	8q23.3	2007-01-06			ENSG00000164796	ENSG00000164796			19291	protein-coding gene	gene with protein product		608399					Standard	NM_052900		Approved		uc003ynu.3	Q7Z407	OTTHUMG00000157027	ENST00000297405.5:c.6643G>T	8.37:g.113353715C>A	ENSP00000297405:p.Val2215Leu	HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				CSMD3_uc003yns.2_Missense_Mutation_p.V1417L|CSMD3_uc003ynt.2_Missense_Mutation_p.V2175L|CSMD3_uc011lhx.1_Missense_Mutation_p.V2111L	p.V2215L	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN			42	6802	-			2215			Extracellular (Potential).|CUB 12.		Q96PZ3	Missense_Mutation	SNP	ENST00000297405.5	37	c.6643G>T	CCDS6315.1	.	.	.	.	.	.	.	.	.	.	C	9.535	1.111910	0.20714	.	.	ENSG00000164796	ENST00000343508;ENST00000297405;ENST00000339701;ENST00000455883;ENST00000352409	T;T;T;T;T	0.17854	2.25;2.25;2.25;2.25;2.25	4.56	-0.848	0.10727	CUB (5);	0.449554	0.20754	N	0.086282	T	0.10337	0.0253	L	0.33485	1.01	0.09310	N	0.999995	B;B;B	0.16802	0.0;0.0;0.019	B;B;B	0.21151	0.002;0.005;0.033	T	0.26087	-1.0113	10	0.29301	T	0.29	.	6.3268	0.21248	0.0:0.4845:0.1214:0.3941	.	2111;2215;2175	Q7Z407-3;Q7Z407;Q7Z407-2	.;CSMD3_HUMAN;.	L	2175;2215;1485;2111;2145	ENSP00000345799:V2175L;ENSP00000297405:V2215L;ENSP00000341558:V1485L;ENSP00000412263:V2111L;ENSP00000343124:V2145L	ENSP00000297405:V2215L	V	-	1	0	CSMD3	113422891	0.865000	0.29922	0.971000	0.41717	0.850000	0.48378	0.264000	0.18497	-0.048000	0.13401	-0.136000	0.14681	GTA		PASS	0.303	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1	NM_052900		20	81	20	81	---	---	---	---
TNFRSF11B	4982	broad.mit.edu	37	8	119936778	119936778	+	Silent	SNP	G	G	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr8:119936778G>A	ENST00000297350.4	-	5	1419	c.1041C>T	c.(1039-1041)caC>caT	p.H347H		NM_002546.3	NP_002537.3	O00300	TR11B_HUMAN	tumor necrosis factor receptor superfamily, member 11b	347	Death 2.				apoptotic process (GO:0006915)|extracellular matrix organization (GO:0030198)|negative regulation of bone resorption (GO:0045779)|negative regulation of odontogenesis of dentin-containing tooth (GO:0042489)|response to arsenic-containing substance (GO:0046685)|response to drug (GO:0042493)|response to estrogen (GO:0043627)|response to magnesium ion (GO:0032026)|response to nutrient (GO:0007584)|signal transduction (GO:0007165)|skeletal system development (GO:0001501)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	cytokine activity (GO:0005125)|receptor activity (GO:0004872)	p.H347H(2)		breast(1)|central_nervous_system(3)|endometrium(4)|large_intestine(6)|lung(7)|prostate(3)|skin(1)	25	all_cancers(13;3.71e-26)|Lung NSC(37;1.69e-07)|Ovarian(258;0.018)|all_neural(195;0.0592)|Hepatocellular(40;0.234)		STAD - Stomach adenocarcinoma(47;0.00193)			GCTTTAGTGCGTGCATTAGGC	0.443																																						uc003yon.3																			2	Substitution - coding silent(2)		lung(2)	central_nervous_system(2)	2						c.(1039-1041)CAC>CAT		osteoprotegerin precursor							263.0	242.0	249.0					8																	119936778		2203	4300	6503	SO:0001819	synonymous_variant	4982				apoptosis|skeletal system development		cytokine activity|receptor activity	g.chr8:119936778G>A	U94332	CCDS6326.1	8q24	2008-07-31	2008-07-31		ENSG00000164761	ENSG00000164761		"""Tumor necrosis factor receptor superfamily"""	11909	protein-coding gene	gene with protein product		602643	"""osteoprotegerin"""	OPG		9108485	Standard	NM_002546		Approved	OCIF, TR1	uc003yon.4	O00300	OTTHUMG00000164969	ENST00000297350.4:c.1041C>T	8.37:g.119936778G>A							p.H347H	NM_002546	NP_002537	O00300	TR11B_HUMAN	STAD - Stomach adenocarcinoma(47;0.00193)		5	1364	-	all_cancers(13;3.71e-26)|Lung NSC(37;1.69e-07)|Ovarian(258;0.018)|all_neural(195;0.0592)|Hepatocellular(40;0.234)		347			Death 2.		B2R9A8|O60236|Q53FX6|Q9UHP4	Silent	SNP	ENST00000297350.4	37	c.1041C>T	CCDS6326.1																																																																																				PASS	0.443	TNFRSF11B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381220.1			41	414	41	414	---	---	---	---
TAF2	6873	broad.mit.edu	37	8	120744199	120744199	+	Missense_Mutation	SNP	C	C	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr8:120744199C>A	ENST00000378164.2	-	26	3863	c.3565G>T	c.(3565-3567)Ggc>Tgc	p.G1189C		NM_003184.3	NP_003175	Q6P1X5	TAF2_HUMAN	TAF2 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 150kDa	1189					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.G1189C(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)			ATAGACCTGCCACTGGCAGGG	0.423																																						uc003you.2																			2	Substitution - Missense(2)		lung(2)	large_intestine(2)|ovary(2)|kidney(1)|skin(1)	6						c.(3565-3567)GGC>TGC		TBP-associated factor 2							227.0	193.0	204.0					8																	120744199		2203	4300	6503	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.chr8:120744199C>A	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.3565G>T	8.37:g.120744199C>A	ENSP00000367406:p.Gly1189Cys						p.G1189C	NM_003184	NP_003175	Q6P1X5	TAF2_HUMAN	STAD - Stomach adenocarcinoma(47;0.00185)		26	3835	-	Lung NSC(37;9.35e-07)|Ovarian(258;0.011)|Hepatocellular(40;0.161)		1189					B2RE82|O43487|O43604|O60668|Q86WW7|Q8IWK4	Missense_Mutation	SNP	ENST00000378164.2	37	c.3565G>T	CCDS34937.1	.	.	.	.	.	.	.	.	.	.	C	16.93	3.256813	0.59321	.	.	ENSG00000064313	ENST00000378164;ENST00000529653	T;T	0.46063	1.79;0.88	5.92	4.13	0.48395	.	0.102594	0.64402	D	0.000003	T	0.25975	0.0633	N	0.24115	0.695	0.49687	D	0.99981	P	0.40000	0.698	B	0.33295	0.161	T	0.06373	-1.0830	10	0.72032	D	0.01	-20.1742	9.9542	0.41657	0.0:0.8459:0.0:0.1541	.	1189	Q6P1X5	TAF2_HUMAN	C	1189;365	ENSP00000367406:G1189C;ENSP00000436750:G365C	ENSP00000367406:G1189C	G	-	1	0	TAF2	120813380	0.998000	0.40836	0.801000	0.32222	0.710000	0.40934	4.201000	0.58439	0.841000	0.35020	0.650000	0.86243	GGC		PASS	0.423	TAF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381436.1	NM_003184		97	85	97	85	---	---	---	---
ATAD2	29028	broad.mit.edu	37	8	124408531	124408531	+	Missense_Mutation	SNP	C	C	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr8:124408531C>A	ENST00000287394.5	-	1	174	c.67G>T	c.(67-69)Gac>Tac	p.D23Y	ATAD2_ENST00000521903.1_Intron	NM_014109.3	NP_054828.2	Q6PL18	ATAD2_HUMAN	ATPase family, AAA domain containing 2	23					ATP catabolic process (GO:0006200)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)	p.D23Y(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|lung(16)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2)	48	Lung NSC(37;1.25e-09)|Ovarian(258;0.00838)		STAD - Stomach adenocarcinoma(47;0.00288)			CTGGACAGGTCCAAGGAGCCC	0.687																																						uc003yqh.3																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(67-69)GAC>TAC		ATPase family, AAA domain containing 2							20.0	26.0	24.0					8																	124408531		2202	4299	6501	SO:0001583	missense	29028				regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrion|nucleus	ATP binding|ATPase activity	g.chr8:124408531C>A	BC019909	CCDS6343.1	8q24.13	2014-01-21		2007-02-08	ENSG00000156802	ENSG00000156802		"""ATPases / AAA-type"""	30123	protein-coding gene	gene with protein product		611941				12477932	Standard	NM_014109		Approved	PRO2000, DKFZp667N1320, MGC5254, MGC29843, CT137	uc003yqh.4	Q6PL18	OTTHUMG00000165090	ENST00000287394.5:c.67G>T	8.37:g.124408531C>A	ENSP00000287394:p.Asp23Tyr					ATAD2_uc011lii.1_5'UTR|ATAD2_uc003yqi.3_Intron|ATAD2_uc003yqj.2_Missense_Mutation_p.D23Y	p.D23Y	NM_014109	NP_054828	Q6PL18	ATAD2_HUMAN	STAD - Stomach adenocarcinoma(47;0.00288)		1	175	-	Lung NSC(37;1.25e-09)|Ovarian(258;0.00838)		23					Q14CR1|Q658P2|Q68CQ0|Q6PJV6|Q8N890|Q9UHS5	Missense_Mutation	SNP	ENST00000287394.5	37	c.67G>T	CCDS6343.1	.	.	.	.	.	.	.	.	.	.	C	12.32	1.901292	0.33535	.	.	ENSG00000156802	ENST00000287394	D	0.95035	-3.59	4.54	3.67	0.42095	.	2.982100	0.02812	U	0.124454	D	0.93719	0.7993	L	0.50333	1.59	0.80722	D	1	P	0.47604	0.898	P	0.44623	0.455	D	0.85414	0.1139	10	0.72032	D	0.01	-13.2497	8.6503	0.34031	0.0:0.8946:0.0:0.1054	.	23	Q6PL18	ATAD2_HUMAN	Y	23	ENSP00000287394:D23Y	ENSP00000287394:D23Y	D	-	1	0	ATAD2	124477712	1.000000	0.71417	0.996000	0.52242	0.810000	0.45777	3.078000	0.50096	1.106000	0.41623	0.561000	0.74099	GAC		PASS	0.687	ATAD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381766.2	NM_014109		14	33	14	33	---	---	---	---
KLHL38	340359	broad.mit.edu	37	8	124659171	124659171	+	Silent	SNP	C	C	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr8:124659171C>A	ENST00000325995.7	-	2	1457	c.1434G>T	c.(1432-1434)ggG>ggT	p.G478G	CTD-2552K11.2_ENST00000524355.1_RNA	NM_001081675.2	NP_001075144.2	Q2WGJ6	KLH38_HUMAN	kelch-like family member 38	478								p.G478G(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(16)|pancreas(1)|prostate(3)|stomach(1)	38						CAATCCGCTCCCCAAGCACCA	0.478																																						uc003yqs.1																			1	Substitution - coding silent(1)		lung(1)		0						c.(1432-1434)GGG>GGT		kelch-like 38							188.0	190.0	189.0					8																	124659171		2067	4209	6276	SO:0001819	synonymous_variant	340359							g.chr8:124659171C>A		CCDS43766.1	8q24.13	2013-02-22	2013-02-22		ENSG00000175946	ENSG00000175946		"""Kelch-like"", ""BTB/POZ domain containing"""	34435	protein-coding gene	gene with protein product			"""kelch-like 38 (Drosophila)"""				Standard	NM_001081675		Approved	C8ORFK36	uc003yqs.1	Q2WGJ6	OTTHUMG00000164983	ENST00000325995.7:c.1434G>T	8.37:g.124659171C>A							p.G478G	NM_001081675	NP_001075144	Q2WGJ6	KLH38_HUMAN			2	1458	-			478			Kelch 4.		A0PK12	Silent	SNP	ENST00000325995.7	37	c.1434G>T	CCDS43766.1																																																																																				PASS	0.478	KLHL38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381288.1			133	184	133	184	---	---	---	---
ADCY8	114	broad.mit.edu	37	8	131955658	131955658	+	Missense_Mutation	SNP	G	G	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr8:131955658G>T	ENST00000286355.5	-	4	3384	c.1292C>A	c.(1291-1293)tCt>tAt	p.S431Y	RP11-737F9.1_ENST00000523318.1_RNA|ADCY8_ENST00000377928.3_Missense_Mutation_p.S431Y	NM_001115.2	NP_001106.1	P40145	ADCY8_HUMAN	adenylate cyclase 8 (brain)	431					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.S431Y(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)			CTCCTGAGCAGACAAGGTCGT	0.463										HNSCC(32;0.087)																												uc003ytd.3																			1	Substitution - Missense(1)		lung(1)	skin(4)|large_intestine(1)|central_nervous_system(1)	6						c.(1291-1293)TCT>TAT		adenylate cyclase 8							59.0	56.0	57.0					8																	131955658		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.chr8:131955658G>T	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.1292C>A	8.37:g.131955658G>T	ENSP00000286355:p.Ser431Tyr	HNSCC(32;0.087)				ADCY8_uc010mds.2_Missense_Mutation_p.S431Y	p.S431Y	NM_001115	NP_001106	P40145	ADCY8_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.000538)		4	1548	-	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)		431			Cytoplasmic (Potential).			Missense_Mutation	SNP	ENST00000286355.5	37	c.1292C>A	CCDS6363.1	.	.	.	.	.	.	.	.	.	.	G	32	5.178525	0.94846	.	.	ENSG00000155897	ENST00000286355;ENST00000377928;ENST00000522949	D;D;D	0.85629	-2.01;-2.01;-2.01	5.65	5.65	0.86999	Adenylyl cyclase class-3/4/guanylyl cyclase (5);	0.055436	0.85682	D	0.000000	D	0.95137	0.8424	H	0.96015	3.755	0.51233	D	0.99991	P;D	0.76494	0.956;0.999	P;D	0.72982	0.761;0.979	D	0.96080	0.9053	10	0.87932	D	0	.	19.0765	0.93165	0.0:0.0:1.0:0.0	.	431;431	E7EVL1;P40145	.;ADCY8_HUMAN	Y	431;431;46	ENSP00000286355:S431Y;ENSP00000367161:S431Y;ENSP00000428010:S46Y	ENSP00000286355:S431Y	S	-	2	0	ADCY8	132024840	1.000000	0.71417	0.919000	0.36401	0.991000	0.79684	9.813000	0.99286	2.825000	0.97269	0.655000	0.94253	TCT		PASS	0.463	ADCY8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380080.1			7	72	7	72	---	---	---	---
ADCY8	114	broad.mit.edu	37	8	132002665	132002665	+	Missense_Mutation	SNP	G	G	T	rs377530734		TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr8:132002665G>T	ENST00000286355.5	-	2	3176	c.1084C>A	c.(1084-1086)Cgc>Agc	p.R362S	ADCY8_ENST00000377928.3_Missense_Mutation_p.R362S	NM_001115.2	NP_001106.1	P40145	ADCY8_HUMAN	adenylate cyclase 8 (brain)	362					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.R362S(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)			GTCTCCAGGCGCAGCCTGGCC	0.502										HNSCC(32;0.087)																												uc003ytd.3																			1	Substitution - Missense(1)		lung(1)	skin(4)|large_intestine(1)|central_nervous_system(1)	6						c.(1084-1086)CGC>AGC		adenylate cyclase 8							110.0	117.0	115.0					8																	132002665		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.chr8:132002665G>T	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.1084C>A	8.37:g.132002665G>T	ENSP00000286355:p.Arg362Ser	HNSCC(32;0.087)				ADCY8_uc010mds.2_Missense_Mutation_p.R362S	p.R362S	NM_001115	NP_001106	P40145	ADCY8_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.000538)		2	1340	-	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)		362			Cytoplasmic (Potential).			Missense_Mutation	SNP	ENST00000286355.5	37	c.1084C>A	CCDS6363.1	.	.	.	.	.	.	.	.	.	.	G	16.53	3.149817	0.57151	.	.	ENSG00000155897	ENST00000286355;ENST00000377928	T;T	0.78924	-1.21;-1.22	5.72	4.73	0.59995	.	0.050961	0.64402	D	0.000001	T	0.64125	0.2570	L	0.46157	1.445	0.32803	D	0.500419	P;B	0.39601	0.68;0.116	B;B	0.29077	0.098;0.029	T	0.68622	-0.5360	10	0.17369	T	0.5	.	11.4001	0.49864	0.0:0.0:0.6677:0.3323	.	362;362	E7EVL1;P40145	.;ADCY8_HUMAN	S	362	ENSP00000286355:R362S;ENSP00000367161:R362S	ENSP00000286355:R362S	R	-	1	0	ADCY8	132071847	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.618000	0.46393	2.857000	0.98124	0.650000	0.86243	CGC		PASS	0.502	ADCY8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380080.1			51	225	51	225	---	---	---	---
KCNQ3	3786	broad.mit.edu	37	8	133182664	133182664	+	Missense_Mutation	SNP	C	C	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr8:133182664C>A	ENST00000388996.4	-	8	1572	c.1152G>T	c.(1150-1152)agG>agT	p.R384S	KCNQ3_ENST00000521134.1_Missense_Mutation_p.R264S|KCNQ3_ENST00000519445.1_Missense_Mutation_p.R384S	NM_004519.3	NP_004510.1	O43525	KCNQ3_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 3	384					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.R384S(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)	TAGCATAATACCTCCAGGCAG	0.502																																						uc003ytj.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|breast(1)|central_nervous_system(1)|skin(1)	5						c.(1150-1152)AGG>AGT		potassium voltage-gated channel KQT-like protein							72.0	70.0	71.0					8																	133182664		2203	4300	6503	SO:0001583	missense	3786				axon guidance|synaptic transmission	voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr8:133182664C>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.1152G>T	8.37:g.133182664C>A	ENSP00000373648:p.Arg384Ser					KCNQ3_uc010mdt.2_Missense_Mutation_p.R384S	p.R384S	NM_004519	NP_004510	O43525	KCNQ3_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.000311)		8	1377	-	Esophageal squamous(12;0.00507)|Ovarian(258;0.00579)|Acute lymphoblastic leukemia(118;0.155)		384					A2VCT8|B4DJY4|E7EQ89	Missense_Mutation	SNP	ENST00000388996.4	37	c.1152G>T	CCDS34943.1	.	.	.	.	.	.	.	.	.	.	C	16.41	3.115297	0.56505	.	.	ENSG00000184156	ENST00000388996;ENST00000521134;ENST00000519445;ENST00000542679;ENST00000423790	D;D;D	0.99158	-5.5;-5.44;-5.5	5.94	3.15	0.36227	.	0.000000	0.85682	D	0.000000	D	0.99026	0.9667	M	0.85945	2.785	0.54753	D	0.999987	D;D	0.76494	0.999;0.999	D;D	0.78314	0.991;0.991	D	0.99357	1.0916	10	0.87932	D	0	-27.1266	6.1754	0.20441	0.0:0.5661:0.0:0.4339	.	384;384	E7ET42;O43525	.;KCNQ3_HUMAN	S	384;264;384;373;263	ENSP00000373648:R384S;ENSP00000429799:R264S;ENSP00000428790:R384S	ENSP00000373648:R384S	R	-	3	2	KCNQ3	133251846	0.927000	0.31430	1.000000	0.80357	0.979000	0.70002	-0.035000	0.12205	0.825000	0.34637	0.563000	0.77884	AGG		PASS	0.502	KCNQ3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268621.2	NM_004519		17	74	17	74	---	---	---	---
TG	7038	broad.mit.edu	37	8	133961037	133961037	+	Silent	SNP	G	G	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr8:133961037G>T	ENST00000220616.4	+	27	5290	c.5250G>T	c.(5248-5250)ggG>ggT	p.G1750G	TG_ENST00000542445.1_Silent_p.G120G|TG_ENST00000377869.1_Silent_p.G1693G	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	thyroglobulin	1750					hormone biosynthetic process (GO:0042446)|iodide transport (GO:0015705)|regulation of myelination (GO:0031641)|signal transduction (GO:0007165)|thyroid gland development (GO:0030878)|thyroid hormone generation (GO:0006590)	extracellular region (GO:0005576)|extracellular space (GO:0005615)		p.G1750G(1)		NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		TCATCTGTGGGTTGCTGAGCT	0.512																																						uc003ytw.2																			1	Substitution - coding silent(1)		lung(1)	ovary(8)|breast(4)|pancreas(1)|central_nervous_system(1)|skin(1)	15						c.(5248-5250)GGG>GGT		thyroglobulin precursor							207.0	187.0	194.0					8																	133961037		2203	4300	6503	SO:0001819	synonymous_variant	7038				hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity	g.chr8:133961037G>T	AU141420	CCDS34944.1	8q24	2012-10-02			ENSG00000042832	ENSG00000042832			11764	protein-coding gene	gene with protein product		188450					Standard	NM_003235		Approved	TGN, AITD3	uc003ytw.3	P01266	OTTHUMG00000164649	ENST00000220616.4:c.5250G>T	8.37:g.133961037G>T						TG_uc010mdw.2_Silent_p.G509G|TG_uc011ljb.1_Silent_p.G119G	p.G1750G	NM_003235	NP_003226	P01266	THYG_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)	27	5291	+	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	1750			Type IIIB.		O15274|O43899|Q15593|Q15948|Q9NYR1|Q9NYR2|Q9UMZ0|Q9UNY3	Silent	SNP	ENST00000220616.4	37	c.5250G>T	CCDS34944.1	.	.	.	.	.	.	.	.	.	.	G	0.114	-1.134352	0.01742	.	.	ENSG00000042832	ENST00000519178	.	.	.	5.56	-1.04	0.10068	.	.	.	.	.	T	0.39627	0.1085	.	.	.	0.32639	N	0.520937	.	.	.	.	.	.	T	0.49986	-0.8880	4	.	.	.	.	7.9227	0.29857	0.1318:0.4989:0.3693:0.0	.	.	.	.	F	206	.	.	V	+	1	0	TG	134030219	0.038000	0.19896	0.182000	0.23118	0.083000	0.17756	-0.027000	0.12371	-0.016000	0.14127	0.655000	0.94253	GTT		PASS	0.512	TG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379606.1	NM_003235		52	245	52	245	---	---	---	---
FAM135B	51059	broad.mit.edu	37	8	139144863	139144863	+	Silent	SNP	C	C	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr8:139144863C>T	ENST00000395297.1	-	20	4364	c.4194G>A	c.(4192-4194)ttG>ttA	p.L1398L		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	1398								p.L1398L(2)		NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			GTCCTGCCACCAAGAAAAACT	0.527										HNSCC(54;0.14)																												uc003yuy.2																			2	Substitution - coding silent(2)		lung(2)	ovary(7)|skin(2)	9						c.(4192-4194)TTG>TTA		hypothetical protein LOC51059							158.0	166.0	164.0					8																	139144863		1959	4158	6117	SO:0001819	synonymous_variant	51059							g.chr8:139144863C>T	AB196635	CCDS6375.2	8q24.23	2008-11-05			ENSG00000147724	ENSG00000147724			28029	protein-coding gene	gene with protein product						8619474, 9110174	Standard	NM_015912		Approved	C8ORFK32	uc003yuy.3	Q49AJ0	OTTHUMG00000149864	ENST00000395297.1:c.4194G>A	8.37:g.139144863C>T		HNSCC(54;0.14)				FAM135B_uc003yux.2_Silent_p.L1299L|FAM135B_uc003yuz.2_RNA	p.L1398L	NM_015912	NP_056996	Q49AJ0	F135B_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.0805)		20	4365	-	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		1398					B5MDB3|O95879|Q2WGJ7|Q3KP46	Silent	SNP	ENST00000395297.1	37	c.4194G>A	CCDS6375.2																																																																																				PASS	0.527	FAM135B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313590.3	NM_015912		15	271	15	271	---	---	---	---
TRAPPC9	83696	broad.mit.edu	37	8	141034035	141034035	+	Splice_Site	SNP	T	T	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr8:141034035T>A	ENST00000438773.2	-	18	2831	c.2698A>T	c.(2698-2700)Agt>Tgt	p.S900C	TRAPPC9_ENST00000389328.4_Splice_Site_p.S998C|TRAPPC9_ENST00000389327.3_Splice_Site_p.S891C	NM_001160372.1	NP_001153844.1	Q96Q05	TPPC9_HUMAN	trafficking protein particle complex 9	900					cell differentiation (GO:0030154)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)		p.S998C(1)		breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(16)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	47						GACATTTACCTGGTTGCTGGG	0.517																																						uc003yvj.2																			1	Substitution - Missense(1)		lung(1)	skin(2)	2						c.(2698-2700)AGT>TGT		trafficking protein particle complex 9 isoform							122.0	119.0	120.0					8																	141034035		2203	4300	6503	SO:0001630	splice_region_variant	83696				cell differentiation	endoplasmic reticulum|Golgi apparatus		g.chr8:141034035T>A	BC006206	CCDS34946.1, CCDS55278.1	8q24.3	2010-10-22			ENSG00000167632	ENSG00000167632		"""Trafficking protein particle complex"""	30832	protein-coding gene	gene with protein product	"""TRAPP 120 kDa subunit"", ""tularik gene 1"""	611966				11572484	Standard	NM_031466		Approved	IKBKBBP, NIBP, KIAA1882, T1, TRS120, MRT13	uc003yvh.2	Q96Q05	OTTHUMG00000164187	ENST00000438773.2:c.2699+1A>T	8.37:g.141034035T>A						TRAPPC9_uc003yvh.2_Missense_Mutation_p.S998C|TRAPPC9_uc010mel.1_Missense_Mutation_p.S321C|TRAPPC9_uc003yvi.1_Missense_Mutation_p.S891C	p.S900C	NM_001160372	NP_001153844	Q96Q05	TPPC9_HUMAN			18	2832	-			900					Q4VTT3|Q658K7|Q6P149|Q6ZQT3|Q7L5C4|Q86Y21|Q96SL2|Q9BQA2	Missense_Mutation	SNP	ENST00000438773.2	37	c.2698A>T	CCDS55278.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	16.88|16.88	3.245739|3.245739	0.59103|0.59103	.|.	.|.	ENSG00000167632|ENSG00000167632	ENST00000520857|ENST00000389328;ENST00000389327;ENST00000438773	.|.	.|.	.|.	5.33|5.33	4.13|4.13	0.48395|0.48395	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.68604|0.68604	0.3019|0.3019	L|L	0.54323|0.54323	1.7|1.7	0.53688|0.53688	D|D	0.99997|0.99997	.|D;D;D;D	.|0.89917	.|0.999;1.0;0.999;0.999	.|D;D;D;D	.|0.81914	.|0.956;0.995;0.947;0.964	T|T	0.67730|0.67730	-0.5595|-0.5595	5|9	.|0.52906	.|T	.|0.07	.|.	10.3827|10.3827	0.44121|0.44121	0.1469:0.0:0.0:0.8531|0.1469:0.0:0.0:0.8531	.|.	.|998;900;891;998	.|A6NIF0;Q96Q05;Q96Q05-3;Q96Q05-2	.|.;TPPC9_HUMAN;.;.	L|C	743|998;891;900	.|.	.|ENSP00000373978:S891C	Q|S	-|-	2|1	0|0	TRAPPC9|TRAPPC9	141103217|141103217	1.000000|1.000000	0.71417|0.71417	0.997000|0.997000	0.53966|0.53966	0.459000|0.459000	0.32528|0.32528	7.324000|7.324000	0.79115|0.79115	0.819000|0.819000	0.34492|0.34492	0.460000|0.460000	0.39030|0.39030	CAG|AGT		PASS	0.517	TRAPPC9-002	PUTATIVE	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000377749.1	NM_031466	Missense_Mutation	32	149	32	149	---	---	---	---
AGO2	27161	broad.mit.edu	37	8	141582932	141582932	+	Silent	SNP	G	G	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr8:141582932G>A	ENST00000220592.5	-	3	427	c.315C>T	c.(313-315)ccC>ccT	p.P105P	AGO2_ENST00000517293.1_5'UTR|AGO2_ENST00000519980.1_Silent_p.P105P	NM_012154.3	NP_036286.2	Q9UKV8	AGO2_HUMAN	argonaute RISC catalytic component 2	105					epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|innate immune response (GO:0045087)|mRNA cleavage involved in gene silencing by miRNA (GO:0035279)|negative regulation of translation involved in gene silencing by miRNA (GO:0035278)|negative regulation of translational initiation (GO:0045947)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900153)|positive regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060213)|post-embryonic development (GO:0009791)|pre-miRNA processing (GO:0031054)|regulation of transcription, DNA-templated (GO:0006355)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|transcription, DNA-templated (GO:0006351)|translation (GO:0006412)|translational initiation (GO:0006413)	cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|membrane (GO:0016020)|micro-ribonucleoprotein complex (GO:0035068)|mRNA cap binding complex (GO:0005845)|nucleus (GO:0005634)|polysome (GO:0005844)|ribonucleoprotein complex (GO:0030529)|RISC complex (GO:0016442)	endoribonuclease activity (GO:0004521)|endoribonuclease activity, cleaving siRNA-paired mRNA (GO:0070551)|metal ion binding (GO:0046872)|miRNA binding (GO:0035198)|mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)|RNA 7-methylguanosine cap binding (GO:0000340)|siRNA binding (GO:0035197)|translation initiation factor activity (GO:0003743)	p.P105P(1)									CAATCGGAAGGGGCATGGCTG	0.507																																						uc003yvn.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(313-315)CCC>CCT		argonaute 2 isoform 1							114.0	103.0	107.0					8																	141582932		2203	4300	6503	SO:0001819	synonymous_variant	27161				mRNA cleavage involved in gene silencing by miRNA|negative regulation of translation involved in gene silencing by miRNA|negative regulation of translational initiation|pre-miRNA processing|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol|micro-ribonucleoprotein complex|mRNA cap binding complex|nucleus|polysome|RNA-induced silencing complex	endoribonuclease activity, cleaving siRNA-paired mRNA|metal ion binding|protein binding|RNA 7-methylguanosine cap binding|siRNA binding|translation initiation factor activity	g.chr8:141582932G>A	AF121255	CCDS6380.1, CCDS55279.1	8q24.3	2013-02-15	2013-02-15	2013-02-15	ENSG00000123908	ENSG00000123908		"""Argonaute/PIWI family"""	3263	protein-coding gene	gene with protein product	"""argonaute 2"""	606229	"""eukaryotic translation initiation factor 2C, 2"""	EIF2C2		10534406, 12906857	Standard	NM_012154		Approved	hAGO2, Q10	uc003yvn.3	Q9UKV8	OTTHUMG00000164232	ENST00000220592.5:c.315C>T	8.37:g.141582932G>A						EIF2C2_uc010men.2_Silent_p.P28P|EIF2C2_uc010meo.2_Silent_p.P105P	p.P105P	NM_012154	NP_036286	Q9UKV8	AGO2_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.158)		3	355	-	all_cancers(97;2.54e-14)|all_epithelial(106;5.99e-13)|Lung NSC(106;1.45e-05)|all_lung(105;2.07e-05)|Ovarian(258;0.0154)|Acute lymphoblastic leukemia(118;0.155)	Breast(495;0.159)	105					Q8TCZ5|Q8WV58|Q96ID1	Silent	SNP	ENST00000220592.5	37	c.315C>T	CCDS6380.1																																																																																				PASS	0.507	AGO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377866.4			45	69	45	69	---	---	---	---
BAI1	575	broad.mit.edu	37	8	143559664	143559664	+	Missense_Mutation	SNP	G	G	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr8:143559664G>A	ENST00000517894.1	+	7	2398	c.1504G>A	c.(1504-1506)Gcg>Acg	p.A502T	BAI1_ENST00000323289.5_Missense_Mutation_p.A502T			O14514	BAI1_HUMAN	brain-specific angiogenesis inhibitor 1	502	TSP type-1 4. {ECO:0000255|PROSITE- ProRule:PRU00210}.				axonogenesis (GO:0007409)|cell adhesion (GO:0007155)|G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell proliferation (GO:0008285)|neuropeptide signaling pathway (GO:0007218)|peripheral nervous system development (GO:0007422)|signal transduction (GO:0007165)	cell-cell junction (GO:0005911)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.A502T(1)		NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(2)|lung(28)|ovary(4)|pancreas(1)|prostate(7)	57	all_cancers(97;2.84e-12)|all_epithelial(106;5.91e-09)|Lung NSC(106;0.000322)|all_lung(105;0.000616)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0315)|Acute lymphoblastic leukemia(118;0.155)					CTACGGGGGTGCGGAGTGCCA	0.682																																						uc003ywm.2																			1	Substitution - Missense(1)		lung(1)	lung(3)|ovary(2)|breast(1)|central_nervous_system(1)|pancreas(1)	8						c.(1504-1506)GCG>ACG		brain-specific angiogenesis inhibitor 1							17.0	21.0	20.0					8																	143559664		2041	4180	6221	SO:0001583	missense	575				axonogenesis|cell adhesion|negative regulation of angiogenesis|negative regulation of cell proliferation|neuropeptide signaling pathway|peripheral nervous system development	cell-cell junction|integral to plasma membrane	G-protein coupled receptor activity|protein binding	g.chr8:143559664G>A	AB005297	CCDS64985.1	8q24.3	2014-08-08			ENSG00000181790	ENSG00000181790		"""-"", ""GPCR / Class B : Orphans"""	943	protein-coding gene	gene with protein product		602682				9533023	Standard	NM_001702		Approved		uc003ywm.3	O14514	OTTHUMG00000164732	ENST00000517894.1:c.1504G>A	8.37:g.143559664G>A	ENSP00000430945:p.Ala502Thr						p.A502T	NM_001702	NP_001693	O14514	BAI1_HUMAN			6	1687	+	all_cancers(97;2.84e-12)|all_epithelial(106;5.91e-09)|Lung NSC(106;0.000322)|all_lung(105;0.000616)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0315)|Acute lymphoblastic leukemia(118;0.155)		502			Extracellular (Potential).|TSP type-1 4.			Missense_Mutation	SNP	ENST00000517894.1	37	c.1504G>A		.	.	.	.	.	.	.	.	.	.	G	23.2	4.388818	0.82902	.	.	ENSG00000181790	ENST00000517894;ENST00000323289	T;T	0.53206	0.63;0.63	4.8	4.8	0.61643	.	0.075081	0.56097	U	0.000040	T	0.42653	0.1212	N	0.20574	0.59	0.38577	D	0.950081	P	0.50943	0.94	P	0.51487	0.671	T	0.46247	-0.9205	10	0.48119	T	0.1	.	12.0163	0.53315	0.0:0.0:0.8271:0.1729	.	502	E9PBK0	.	T	502	ENSP00000430945:A502T;ENSP00000313046:A502T	ENSP00000313046:A502T	A	+	1	0	BAI1	143556666	1.000000	0.71417	0.538000	0.28064	0.794000	0.44872	4.499000	0.60380	2.184000	0.69523	0.455000	0.32223	GCG		PASS	0.682	BAI1-001	KNOWN	non_canonical_conserved|not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000379963.3	NM_001702		10	9	10	9	---	---	---	---
BAI1	575	broad.mit.edu	37	8	143572166	143572166	+	Missense_Mutation	SNP	G	G	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr8:143572166G>A	ENST00000517894.1	+	17	3559	c.2665G>A	c.(2665-2667)Gag>Aag	p.E889K	BAI1_ENST00000323289.5_Missense_Mutation_p.E889K			O14514	BAI1_HUMAN	brain-specific angiogenesis inhibitor 1	889	GPS. {ECO:0000255|PROSITE- ProRule:PRU00098}.				axonogenesis (GO:0007409)|cell adhesion (GO:0007155)|G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell proliferation (GO:0008285)|neuropeptide signaling pathway (GO:0007218)|peripheral nervous system development (GO:0007422)|signal transduction (GO:0007165)	cell-cell junction (GO:0005911)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.E889K(1)		NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(2)|lung(28)|ovary(4)|pancreas(1)|prostate(7)	57	all_cancers(97;2.84e-12)|all_epithelial(106;5.91e-09)|Lung NSC(106;0.000322)|all_lung(105;0.000616)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0315)|Acute lymphoblastic leukemia(118;0.155)					CCTGTGGGATGAGACGGATGT	0.642																																						uc003ywm.2																			1	Substitution - Missense(1)		lung(1)	lung(3)|ovary(2)|breast(1)|central_nervous_system(1)|pancreas(1)	8						c.(2665-2667)GAG>AAG		brain-specific angiogenesis inhibitor 1							69.0	77.0	75.0					8																	143572166		2006	4164	6170	SO:0001583	missense	575				axonogenesis|cell adhesion|negative regulation of angiogenesis|negative regulation of cell proliferation|neuropeptide signaling pathway|peripheral nervous system development	cell-cell junction|integral to plasma membrane	G-protein coupled receptor activity|protein binding	g.chr8:143572166G>A	AB005297	CCDS64985.1	8q24.3	2014-08-08			ENSG00000181790	ENSG00000181790		"""-"", ""GPCR / Class B : Orphans"""	943	protein-coding gene	gene with protein product		602682				9533023	Standard	NM_001702		Approved		uc003ywm.3	O14514	OTTHUMG00000164732	ENST00000517894.1:c.2665G>A	8.37:g.143572166G>A	ENSP00000430945:p.Glu889Lys						p.E889K	NM_001702	NP_001693	O14514	BAI1_HUMAN			16	2848	+	all_cancers(97;2.84e-12)|all_epithelial(106;5.91e-09)|Lung NSC(106;0.000322)|all_lung(105;0.000616)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0315)|Acute lymphoblastic leukemia(118;0.155)		889			Extracellular (Potential).|GPS.			Missense_Mutation	SNP	ENST00000517894.1	37	c.2665G>A		.	.	.	.	.	.	.	.	.	.	G	17.58	3.424871	0.62733	.	.	ENSG00000181790	ENST00000517894;ENST00000323289	T;T	0.27557	1.66;1.66	3.77	2.89	0.33648	.	0.082407	0.48286	U	0.000189	T	0.36468	0.0968	M	0.63169	1.94	0.48288	D	0.99962	D	0.53312	0.959	P	0.50860	0.652	T	0.06917	-1.0800	10	0.30854	T	0.27	.	9.026	0.36230	0.1144:0.0:0.8856:0.0	.	889	E9PBK0	.	K	889	ENSP00000430945:E889K;ENSP00000313046:E889K	ENSP00000313046:E889K	E	+	1	0	BAI1	143569168	1.000000	0.71417	0.821000	0.32701	0.987000	0.75469	4.253000	0.58791	0.568000	0.29311	0.555000	0.69702	GAG		PASS	0.642	BAI1-001	KNOWN	non_canonical_conserved|not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000379963.3	NM_001702		3	4	3	4	---	---	---	---
ARC	23237	broad.mit.edu	37	8	143695373	143695373	+	Missense_Mutation	SNP	C	C	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr8:143695373C>A	ENST00000356613.2	-	1	1460	c.260G>T	c.(259-261)tGg>tTg	p.W87L	ARC_ENST00000581404.1_5'Flank	NM_015193.4	NP_056008.1	O60936	NOL3_HUMAN	activity-regulated cytoskeleton-associated protein	0	CARD. {ECO:0000255|PROSITE- ProRule:PRU00046}.				apoptotic process (GO:0006915)|mRNA processing (GO:0006397)|negative regulation of apoptotic process (GO:0043066)|regulation of gene expression (GO:0010468)|response to hypoxia (GO:0001666)|response to injury involved in regulation of muscle adaptation (GO:0014876)|RNA splicing (GO:0008380)	cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|sarcoplasm (GO:0016528)	identical protein binding (GO:0042802)|RNA binding (GO:0003723)	p.W87L(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(3)|upper_aerodigestive_tract(1)	13	all_cancers(97;3.55e-12)|all_epithelial(106;1.03e-08)|Lung NSC(106;0.000353)|all_lung(105;0.00092)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)	Acute lymphoblastic leukemia(644;0.0279)				GGACTTCTTCCAGCGCTGCGA	0.662																																						uc003ywn.1																			1	Substitution - Missense(1)		lung(1)	breast(1)	1						c.(259-261)TGG>TTG		activity-regulated cytoskeleton-associated							43.0	34.0	37.0					8																	143695373		2203	4300	6503	SO:0001583	missense	23237				endocytosis	acrosomal vesicle|cell junction|dendritic spine|endosome|postsynaptic density|postsynaptic membrane		g.chr8:143695373C>A	AF193421	CCDS34950.1	8q24.3	2008-08-01			ENSG00000198576	ENSG00000198576			648	protein-coding gene	gene with protein product		612461				10970730, 17466953	Standard	NM_015193		Approved	KIAA0278, Arg3.1	uc003ywn.2	Q7LC44	OTTHUMG00000134310	ENST00000356613.2:c.260G>T	8.37:g.143695373C>A	ENSP00000349022:p.Trp87Leu						p.W87L	NM_015193	NP_056008	Q7LC44	ARC_HUMAN			1	461	-	all_cancers(97;3.55e-12)|all_epithelial(106;1.03e-08)|Lung NSC(106;0.000353)|all_lung(105;0.00092)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)	Acute lymphoblastic leukemia(644;0.0279)	87					B4DFL0|O60937	Missense_Mutation	SNP	ENST00000356613.2	37	c.260G>T	CCDS34950.1	.	.	.	.	.	.	.	.	.	.	C	21.1	4.103910	0.76983	.	.	ENSG00000198576	ENST00000356613	T	0.31769	1.48	4.46	4.46	0.54185	.	0.000000	0.53938	U	0.000055	T	0.42494	0.1205	L	0.29908	0.895	0.44155	D	0.996952	D	0.61697	0.99	D	0.64877	0.93	T	0.44922	-0.9296	10	0.87932	D	0	.	16.0761	0.80969	0.0:1.0:0.0:0.0	.	87	Q7LC44	ARC_HUMAN	L	87	ENSP00000349022:W87L	ENSP00000349022:W87L	W	-	2	0	ARC	143692375	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.399000	0.44495	2.027000	0.59764	0.563000	0.77884	TGG		PASS	0.662	ARC-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259274.2			5	20	5	20	---	---	---	---
CYP11B1	1584	broad.mit.edu	37	8	143960516	143960516	+	Missense_Mutation	SNP	G	G	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr8:143960516G>T	ENST00000292427.4	-	2	359	c.327C>A	c.(325-327)caC>caA	p.H109Q	CYP11B1_ENST00000377675.3_Missense_Mutation_p.H154Q|CYP11B1_ENST00000517471.1_Missense_Mutation_p.H109Q	NM_000497.3	NP_000488.3	P15538	C11B1_HUMAN	cytochrome P450, family 11, subfamily B, polypeptide 1	109					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.H109Q(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)	GGCTCATCCTGTGGGGATGCA	0.612									Familial Hyperaldosteronism type I																													uc003yxi.2																			1	Substitution - Missense(1)	p.H109N(1)	lung(1)	ovary(3)	3						c.(325-327)CAC>CAA		cytochrome P450, family 11, subfamily B,	Mitotane(DB00648)						203.0	147.0	166.0					8																	143960516		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.chr8:143960516G>T	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.327C>A	8.37:g.143960516G>T	ENSP00000292427:p.His109Gln					CYP11B1_uc003yxh.2_5'Flank|CYP11B1_uc003yxj.2_Missense_Mutation_p.H109Q|CYP11B1_uc010mey.2_Missense_Mutation_p.H154Q	p.H109Q	NM_000497	NP_000488	P15538	C11B1_HUMAN			2	334	-	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)		109					Q14095|Q4VAQ8|Q4VAQ9|Q9UML2	Missense_Mutation	SNP	ENST00000292427.4	37	c.327C>A	CCDS6392.1	.	.	.	.	.	.	.	.	.	.	G	5.809	0.333503	0.11013	.	.	ENSG00000160882	ENST00000292427;ENST00000517471;ENST00000377675	T;T;T	0.73681	-0.26;-0.26;-0.77	3.55	-4.19	0.03835	.	1.324690	0.05515	N	0.561121	T	0.44685	0.1305	N	0.02247	-0.625	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.12156	0.003;0.007;0.004	T	0.39313	-0.9620	10	0.10377	T	0.69	.	9.3372	0.38058	0.1054:0.5606:0.334:0.0	.	154;109;109	Q4VAR0;Q4VAQ9;P15538	.;.;C11B1_HUMAN	Q	109;109;154	ENSP00000292427:H109Q;ENSP00000428043:H109Q;ENSP00000366903:H154Q	ENSP00000292427:H109Q	H	-	3	2	CYP11B1	143957518	0.000000	0.05858	0.000000	0.03702	0.155000	0.21991	-0.158000	0.10070	-0.659000	0.05359	0.484000	0.47621	CAC		PASS	0.612	CYP11B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379475.2			14	67	14	67	---	---	---	---
LY6H	4062	broad.mit.edu	37	8	144240339	144240339	+	Splice_Site	SNP	G	G	T	rs369401484		TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr8:144240339G>T	ENST00000430474.2	-	3	233	c.68C>A	c.(67-69)gCt>gAt	p.A23D	LY6H_ENST00000414417.2_Splice_Site_p.A44D|LY6H_ENST00000342752.4_Splice_Site_p.A44D	NM_002347.4	NP_002338.3	O94772	LY6H_HUMAN	lymphocyte antigen 6 complex, locus H	23					nervous system development (GO:0007399)|organ morphogenesis (GO:0009887)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)		p.A23D(1)		endometrium(1)|lung(1)|stomach(2)	4	all_cancers(97;6.49e-11)|all_epithelial(106;2.77e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)					CAGGCCATGAGCTGGGCAGGG	0.677																																						uc011lka.1																			1	Substitution - Missense(1)		lung(1)		0						c.(67-69)GCT>GAT		lymphocyte antigen 6 complex, locus H isoform a							89.0	65.0	73.0					8																	144240339		2203	4300	6503	SO:0001630	splice_region_variant	4062				nervous system development|organ morphogenesis	anchored to membrane|plasma membrane		g.chr8:144240339G>T	AB012293	CCDS6396.1, CCDS47926.1	8q24.3	2008-08-01			ENSG00000176956	ENSG00000176956			6728	protein-coding gene	gene with protein product		603625				9799603	Standard	NM_001130478		Approved	NMLY6	uc011lkb.2	O94772	OTTHUMG00000154890	ENST00000430474.2:c.68-1C>A	8.37:g.144240339G>T						LY6H_uc011lkb.1_Missense_Mutation_p.A44D|LY6H_uc003yxt.2_Missense_Mutation_p.A61D|LY6H_uc011lkc.1_Missense_Mutation_p.A44D	p.A23D	NM_002347	NP_002338	O94772	LY6H_HUMAN			3	234	-	all_cancers(97;6.49e-11)|all_epithelial(106;2.77e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)		23					B2RAD2|J3KQI0|Q6IAX0	Missense_Mutation	SNP	ENST00000430474.2	37	c.68C>A	CCDS6396.1	.	.	.	.	.	.	.	.	.	.	g	15.38	2.815632	0.50527	.	.	ENSG00000176956	ENST00000430474;ENST00000342752;ENST00000414417	T;T;T	0.73789	-0.78;-0.78;-0.78	3.55	3.55	0.40652	.	0.170898	0.28262	N	0.015988	T	0.73393	0.3581	M	0.74467	2.265	0.41307	D	0.987088	B	0.27498	0.18	B	0.31290	0.127	T	0.77133	-0.2700	10	0.87932	D	0	.	10.9177	0.47146	0.0:0.0:1.0:0.0	.	23	O94772	LY6H_HUMAN	D	23;44;44	ENSP00000409899:A23D;ENSP00000342711:A44D;ENSP00000399485:A44D	ENSP00000342711:A44D	A	-	2	0	LY6H	144311714	1.000000	0.71417	0.996000	0.52242	0.992000	0.81027	3.955000	0.56715	2.294000	0.77228	0.561000	0.74099	GCT		PASS	0.677	LY6H-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337535.1		Missense_Mutation	20	37	20	37	---	---	---	---
GSDMD	79792	broad.mit.edu	37	8	144644650	144644650	+	Nonsense_Mutation	SNP	G	G	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr8:144644650G>T	ENST00000526406.1	+	13	2054	c.1171G>T	c.(1171-1173)Gag>Tag	p.E391*	GSDMD_ENST00000533063.1_Nonsense_Mutation_p.E439*|GSDMD_ENST00000262580.4_Nonsense_Mutation_p.E391*	NM_001166237.1	NP_001159709.1	P57764	GSDMD_HUMAN	gasdermin D	391				SGMLVPELAIPVVYLLGALTMLSETQHKLLAEALESQTLLG PLELVGSLLEQSAPWQERSTMSLPPGLLGNSWGEGAPAWVL LDECGLELGEDTPHVCWEPQAQGRMCALYASLALLSGLSQE P -> PECWCRNSLSLLSTCWG (in Ref. 1; AAG22861). {ECO:0000305}.	cellular response to extracellular stimulus (GO:0031668)			p.E391*(1)		breast(1)|lung(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	12						GCTGCTGGCGGAGGCGCTGGA	0.647																																						uc010mfe.2																			1	Substitution - Nonsense(1)		lung(1)		0						c.(1171-1173)GAG>TAG		gasdermin D							17.0	22.0	20.0					8																	144644650		2196	4298	6494	SO:0001587	stop_gained	79792							g.chr8:144644650G>T	AK096216	CCDS34956.1	8q24.3	2008-07-31	2008-07-31	2008-07-31		ENSG00000104518			25697	protein-coding gene	gene with protein product			"""gasdermin domain containing 1"""	GSDMDC1		15289881, 17350798	Standard	NM_024736		Approved	FLJ12150, DF5L	uc003yyg.3	P57764		ENST00000526406.1:c.1171G>T	8.37:g.144644650G>T	ENSP00000433209:p.Glu391*					GSDMD_uc003yyf.2_Nonsense_Mutation_p.E439*|GSDMD_uc003yyg.2_Nonsense_Mutation_p.E391*|GSDMD_uc003yyh.2_Nonsense_Mutation_p.E322*	p.E391*	NM_024736	NP_079012	P57764	GSDMD_HUMAN			13	1874	+			391	SGMLVPELAIPVVYLLGALTMLSETQHKLLAEALESQTLLG PLELVGSLLEQSAPWQERSTMSLPPGLLGNSWGEGAPAWVL LDECGLELGEDTPHVCWEPQAQGRMCALYASLALLSGLSQE P -> PECWCRNSLSLLSTCWG (in Ref. 1; AAG22861).				D3DWJ9|Q96Q98	Nonsense_Mutation	SNP	ENST00000526406.1	37	c.1171G>T	CCDS34956.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	17.20|17.20	3.328941|3.328941	0.60743|0.60743	.|.	.|.	ENSG00000104518|ENSG00000104518	ENST00000526406;ENST00000533063;ENST00000262580|ENST00000525208	.|.	.|.	.|.	4.3|4.3	-8.14|-8.14	0.01069|0.01069	.|.	1.832320|.	0.02432|.	N|.	0.083691|.	.|T	.|0.36880	.|0.0983	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.40346	.|-0.9568	.|4	0.02654|.	T|.	1|.	-1.1189|-1.1189	3.5335|3.5335	0.07785|0.07785	0.401:0.3709:0.1324:0.0957|0.401:0.3709:0.1324:0.0957	.|.	.|.	.|.	.|.	X|V	391;439;391|86	.|.	ENSP00000262580:E391X|.	E|G	+|+	1|2	0|0	GSDMD|GSDMD	144715793|144715793	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.020000|0.020000	0.10135|0.10135	-1.925000|-1.925000	0.01564|0.01564	-1.922000|-1.922000	0.01067|0.01067	-0.152000|-0.152000	0.13540|0.13540	GAG|GGA		PASS	0.647	GSDMD-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382046.3	NM_024736		3	20	3	20	---	---	---	---
EPPK1	83481	broad.mit.edu	37	8	144940678	144940678	+	Silent	SNP	G	G	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr8:144940678G>A	ENST00000525985.1	-	2	6815	c.6744C>T	c.(6742-6744)gcC>gcT	p.A2248A				P58107	EPIPL_HUMAN	epiplakin 1	2248						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	poly(A) RNA binding (GO:0044822)	p.A2248A(1)		NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			CCTTCCACATGGCCTGGTAGA	0.706																																						uc003zaa.1																			1	Substitution - coding silent(1)		lung(1)	pancreas(1)|skin(1)	2						c.(14752-14754)GCC>GCT		epiplakin 1							60.0	57.0	58.0					8																	144940678		2185	4253	6438	SO:0001819	synonymous_variant	83481					cytoplasm|cytoskeleton	protein binding|structural molecule activity	g.chr8:144940678G>A	AB051895	CCDS75800.1	8q24.3	2014-09-17				ENSG00000261150			15577	protein-coding gene	gene with protein product	"""epidermal autoantigen 450K"""	607553				11278896, 15671067	Standard	NM_031308		Approved	EPIPL1	uc003zaa.1	P58107		ENST00000525985.1:c.6744C>T	8.37:g.144940678G>A							p.A4918A	NM_031308	NP_112598	P58107	EPIPL_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)		2	14767	-	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		4918			Plectin 61.		Q76E58|Q9NSU9	Silent	SNP	ENST00000525985.1	37	c.14754C>T																																																																																					PASS	0.706	EPPK1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000382675.1	NM_031308		4	74	4	74	---	---	---	---
DMRT2	10655	broad.mit.edu	37	9	1056414	1056414	+	Missense_Mutation	SNP	C	C	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr9:1056414C>A	ENST00000358146.2	+	3	827	c.827C>A	c.(826-828)cCt>cAt	p.P276H	DMRT2_ENST00000302441.6_Missense_Mutation_p.P276H|DMRT2_ENST00000382255.3_3'UTR|DMRT2_ENST00000259622.6_3'UTR|DMRT2_ENST00000382251.3_Missense_Mutation_p.P276H			Q9Y5R5	DMRT2_HUMAN	doublesex and mab-3 related transcription factor 2	276					embryonic skeletal system development (GO:0048706)|positive regulation of myotome development (GO:2000287)|regulation of somitogenesis (GO:0014807)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.P276H(1)		large_intestine(1)|lung(1)|prostate(2)	4		all_lung(10;1.49e-09)|Lung NSC(10;1.86e-09)		Lung(218;0.0195)|GBM - Glioblastoma multiforme(50;0.0388)		CGCATGGTGCCTGGACCTGAC	0.468																																						uc003zha.2																			1	Substitution - Missense(1)		lung(1)		0						c.(826-828)CCT>CAT		doublesex and mab-3 related transcription factor							92.0	87.0	89.0					9																	1056414		2203	4300	6503	SO:0001583	missense	10655				male gonad development|sex determination	nucleus	DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity	g.chr9:1056414C>A	AF130729	CCDS6444.1, CCDS6445.1	9p24.3	2008-07-21			ENSG00000173253	ENSG00000173253			2935	protein-coding gene	gene with protein product	"""terra-like protein"""	604935				10332030	Standard	NM_181872		Approved		uc003zha.3	Q9Y5R5	OTTHUMG00000019437	ENST00000358146.2:c.827C>A	9.37:g.1056414C>A	ENSP00000350865:p.Pro276His					DMRT2_uc003zgx.3_Missense_Mutation_p.P43H|DMRT2_uc010mgz.2_Missense_Mutation_p.P43H|DMRT2_uc003zgy.3_Missense_Mutation_p.P120H|DMRT2_uc003zhb.3_3'UTR|DMRT2_uc011llt.1_3'UTR|DMRT2_uc011llu.1_3'UTR|DMRT2_uc011llv.1_Missense_Mutation_p.P276H	p.P276H	NM_181872	NP_870987	Q9Y5R5	DMRT2_HUMAN		Lung(218;0.0195)|GBM - Glioblastoma multiforme(50;0.0388)	4	1027	+		all_lung(10;1.49e-09)|Lung NSC(10;1.86e-09)	276					B1ANC0|B9EGJ1|Q9NPG6|Q9NQR6	Missense_Mutation	SNP	ENST00000358146.2	37	c.827C>A	CCDS6444.1	.	.	.	.	.	.	.	.	.	.	C	0.009	-1.804843	0.00606	.	.	ENSG00000173253	ENST00000382251;ENST00000302441;ENST00000358146	T;T;T	0.19938	2.11;2.11;2.11	5.53	3.36	0.38483	.	0.491368	0.23849	N	0.043970	T	0.05731	0.0150	N	0.00926	-1.1	0.35930	D	0.832436	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.25012	-1.0144	10	0.09843	T	0.71	-0.9805	8.0144	0.30372	0.5013:0.4118:0.0868:0.0	.	276;120	Q9Y5R5;Q5HYK2	DMRT2_HUMAN;.	H	276	ENSP00000371686:P276H;ENSP00000305785:P276H;ENSP00000350865:P276H	ENSP00000305785:P276H	P	+	2	0	DMRT2	1046414	1.000000	0.71417	0.261000	0.24466	0.691000	0.40173	4.568000	0.60857	0.527000	0.28560	0.585000	0.79938	CCT		PASS	0.468	DMRT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051492.1	NM_006557		92	64	92	64	---	---	---	---
RFX3	5991	broad.mit.edu	37	9	3277416	3277416	+	Silent	SNP	T	T	G			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr9:3277416T>G	ENST00000382004.3	-	9	1208	c.897A>C	c.(895-897)acA>acC	p.T299T	RFX3_ENST00000358730.2_Silent_p.T299T|RFX3_ENST00000302303.1_Silent_p.T299T	NM_001282116.1|NM_134428.1	NP_001269045.1|NP_602304.1	P48380	RFX3_HUMAN	regulatory factor X, 3 (influences HLA class II expression)	299					cell maturation (GO:0048469)|cilium assembly (GO:0042384)|cilium-dependent cell motility (GO:0060285)|endocrine pancreas development (GO:0031018)|epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type B pancreatic cell development (GO:2000078)|regulation of insulin secretion (GO:0050796)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)|type B pancreatic cell maturation (GO:0072560)	nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)	p.T299T(2)		central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(11)|large_intestine(3)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	40				GBM - Glioblastoma multiforme(50;0.00124)|Lung(2;0.0337)		GACCACTTCCTGTGAAACCAT	0.368																																						uc003zhr.2																			2	Substitution - coding silent(2)		lung(2)	ovary(2)|central_nervous_system(1)|pancreas(1)	4						c.(895-897)ACA>ACC		regulatory factor X3 isoform b							180.0	157.0	165.0					9																	3277416		2203	4300	6503	SO:0001819	synonymous_variant	5991				cell maturation|ciliary cell motility|cilium assembly|cilium movement involved in determination of left/right asymmetry|endocrine pancreas development|negative regulation of transcription, DNA-dependent|positive regulation of transcription from RNA polymerase II promoter|positive regulation of type B pancreatic cell development|regulation of insulin secretion	nuclear chromatin	protein binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding	g.chr9:3277416T>G	AI811824	CCDS6449.1, CCDS6450.1, CCDS75809.1	9p24.2	2008-02-05			ENSG00000080298	ENSG00000080298			9984	protein-coding gene	gene with protein product		601337				8289803	Standard	XM_005251534		Approved		uc003zhr.3	P48380	OTTHUMG00000019456	ENST00000382004.3:c.897A>C	9.37:g.3277416T>G						RFX3_uc010mhd.2_Silent_p.T299T|RFX3_uc003zhs.1_Silent_p.T299T|RFX3_uc003zht.1_Silent_p.T299T|RFX3_uc010mhe.1_Silent_p.T274T	p.T299T	NM_134428	NP_602304	P48380	RFX3_HUMAN		GBM - Glioblastoma multiforme(50;0.00124)|Lung(2;0.0337)	9	1209	-			299					A8K0H5|D3DRH8|D3DRH9|Q5JTL7|Q5JTL8|Q6NW13|Q8WTU4|Q95HL5|Q95HL6	Silent	SNP	ENST00000382004.3	37	c.897A>C	CCDS6449.1																																																																																				PASS	0.368	RFX3-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051545.1	NM_002919		119	60	119	60	---	---	---	---
TPD52L3	89882	broad.mit.edu	37	9	6329011	6329011	+	Missense_Mutation	SNP	G	G	T	rs202244630	byFrequency	TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr9:6329011G>T	ENST00000344545.5	+	1	663	c.416G>T	c.(415-417)tGg>tTg	p.W139L	TPD52L3_ENST00000314556.3_Intron|TPD52L3_ENST00000381428.1_Intron	NM_033516.5	NP_277051	Q96J77	TPD55_HUMAN	tumor protein D52-like 3	139								p.W139L(1)		large_intestine(1)|lung(9)|skin(1)	11		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.0198)|Lung(218;0.1)		AAAAGAGCTTGGCCCTGACTG	0.547																																						uc003zjw.2																			1	Substitution - Missense(1)		lung(1)		0						c.(415-417)TGG>TTG		protein kinase NYD-SP25 isoform 1							43.0	46.0	45.0					9																	6329011		2202	4299	6501	SO:0001583	missense	89882						protein binding	g.chr9:6329011G>T	AY032877	CCDS34984.1, CCDS34985.1, CCDS34986.1	9p24.1	2008-02-05			ENSG00000170777	ENSG00000170777			23382	protein-coding gene	gene with protein product							Standard	NM_033516		Approved	NYD-SP25	uc003zjw.3	Q96J77	OTTHUMG00000019518	ENST00000344545.5:c.416G>T	9.37:g.6329011G>T	ENSP00000341677:p.Trp139Leu					TPD52L3_uc003zjv.2_Intron|TPD52L3_uc003zjx.1_Intron	p.W139L	NM_033516	NP_277051	Q96J77	TPD55_HUMAN		GBM - Glioblastoma multiforme(50;0.0198)|Lung(218;0.1)	1	637	+		Acute lymphoblastic leukemia(23;0.158)	139					Q5TCR3|Q5TCR4|Q5TCR5|Q8N4P5|Q8WWF7|Q96M09	Missense_Mutation	SNP	ENST00000344545.5	37	c.416G>T	CCDS34986.1	.	.	.	.	.	.	.	.	.	.	G	9.343	1.063474	0.20067	.	.	ENSG00000170777	ENST00000344545	T	0.30714	1.52	4.61	0.573	0.17363	.	0.352812	0.27206	N	0.020434	T	0.12008	0.0292	N	0.08118	0	0.09310	N	1	B	0.09022	0.002	B	0.12837	0.008	T	0.14811	-1.0459	10	0.33940	T	0.23	0.6621	3.5354	0.07792	0.29:0.0:0.5345:0.1755	.	139	Q96J77	TPD55_HUMAN	L	139	ENSP00000341677:W139L	ENSP00000341677:W139L	W	+	2	0	TPD52L3	6319011	0.034000	0.19679	0.001000	0.08648	0.031000	0.12232	0.722000	0.25925	0.017000	0.15025	0.511000	0.50034	TGG		PASS	0.547	TPD52L3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000051658.1	NM_033516		50	30	50	30	---	---	---	---
KDM4C	23081	broad.mit.edu	37	9	7011847	7011847	+	Missense_Mutation	SNP	G	G	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr9:7011847G>T	ENST00000381309.3	+	13	2501	c.1936G>T	c.(1936-1938)Gcc>Tcc	p.A646S	KDM4C_ENST00000535193.1_Missense_Mutation_p.A668S|KDM4C_ENST00000543771.1_Missense_Mutation_p.A646S|KDM4C_ENST00000536108.1_Missense_Mutation_p.A465S|KDM4C_ENST00000442236.2_Missense_Mutation_p.A391S|KDM4C_ENST00000428870.2_Missense_Mutation_p.A333S|KDM4C_ENST00000381306.3_Missense_Mutation_p.A646S	NM_015061.3	NP_055876.2	Q9H3R0	KDM4C_HUMAN	lysine (K)-specific demethylase 4C	646					histone H3-K9 demethylation (GO:0033169)|positive regulation of cell proliferation (GO:0008284)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nuclear chromatin (GO:0000790)	androgen receptor binding (GO:0050681)|dioxygenase activity (GO:0051213)|enzyme binding (GO:0019899)|histone demethylase activity (H3-K9 specific) (GO:0032454)|zinc ion binding (GO:0008270)	p.A646S(2)		breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(8)|lung(14)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	43						GCCACACTGTGCCATCTGCAC	0.517																																						uc003zkh.2																			2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(1936-1938)GCC>TCC		jumonji domain containing 2C isoform 1							95.0	84.0	88.0					9																	7011847		2203	4300	6503	SO:0001583	missense	23081				positive regulation of cell proliferation|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription, DNA-dependent	nuclear chromatin	androgen receptor binding|enzyme binding|histone demethylase activity (H3-K9 specific)|nucleic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding	g.chr9:7011847G>T	AB018323	CCDS6471.1, CCDS55285.1, CCDS55286.1, CCDS55287.1	9p24-p23	2013-01-23	2009-04-06	2009-04-06	ENSG00000107077	ENSG00000107077		"""Chromatin-modifying enzymes / K-demethylases"", ""Tudor domain containing"""	17071	protein-coding gene	gene with protein product	"""tudor domain containing 14C"""	605469	"""jumonji domain containing 2C"""	JMJD2C		9872452, 15138608	Standard	NM_015061		Approved	GASC1, KIAA0780, TDRD14C	uc003zkh.3	Q9H3R0	OTTHUMG00000019536	ENST00000381309.3:c.1936G>T	9.37:g.7011847G>T	ENSP00000370710:p.Ala646Ser					KDM4C_uc010mhu.2_Missense_Mutation_p.A668S|KDM4C_uc011lmi.1_Missense_Mutation_p.A646S|KDM4C_uc011lmj.1_RNA|KDM4C_uc003zkg.2_Missense_Mutation_p.A646S|KDM4C_uc011lmk.1_Missense_Mutation_p.A391S|KDM4C_uc011lml.1_Missense_Mutation_p.A333S	p.A646S	NM_015061	NP_055876	Q9H3R0	KDM4C_HUMAN			13	2516	+			646					B4E1Y4|B7ZL46|F5H347|F5H7P0|O94877|Q2M3M0|Q5JUC9|Q5VYJ2|Q5VYJ3	Missense_Mutation	SNP	ENST00000381309.3	37	c.1936G>T	CCDS6471.1	.	.	.	.	.	.	.	.	.	.	G	34	5.371365	0.95923	.	.	ENSG00000107077	ENST00000535193;ENST00000543771;ENST00000381309;ENST00000381306;ENST00000442236;ENST00000536108;ENST00000428870	T;T;T;T;T;T;T	0.57752	0.38;0.38;0.38;0.38;0.38;0.38;0.38	5.76	5.76	0.90799	.	0.000000	0.85682	D	0.000000	T	0.72366	0.3451	M	0.69358	2.11	0.80722	D	1	D;D;D;D;D	0.89917	0.999;1.0;0.996;0.997;0.98	D;D;P;P;P	0.85130	0.994;0.997;0.839;0.788;0.778	T	0.68819	-0.5308	10	0.38643	T	0.18	.	19.9759	0.97304	0.0:0.0:1.0:0.0	.	391;646;668;646;646	E7EV17;F5H347;F5H7P0;Q9H3R0;Q9H3R0-2	.;.;.;KDM4C_HUMAN;.	S	668;646;646;646;391;465;333	ENSP00000442382:A668S;ENSP00000445427:A646S;ENSP00000370710:A646S;ENSP00000370707:A646S;ENSP00000409353:A391S;ENSP00000440656:A465S;ENSP00000405739:A333S	ENSP00000370707:A646S	A	+	1	0	KDM4C	7001847	1.000000	0.71417	1.000000	0.80357	0.933000	0.57130	9.290000	0.96065	2.713000	0.92767	0.655000	0.94253	GCC		PASS	0.517	KDM4C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051692.1	NM_015061		32	30	32	30	---	---	---	---
PTPRD	5789	broad.mit.edu	37	9	8497241	8497241	+	Splice_Site	SNP	C	C	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr9:8497241C>A	ENST00000381196.4	-	23	2893		c.e23+1		PTPRD_ENST00000397617.3_Intron|PTPRD_ENST00000397611.3_Intron|PTPRD_ENST00000486161.1_Intron|PTPRD_ENST00000358503.5_Intron|PTPRD_ENST00000356435.5_Splice_Site|PTPRD_ENST00000540109.1_Splice_Site|PTPRD_ENST00000471274.1_Intron|PTPRD_ENST00000355233.5_Intron|PTPRD_ENST00000360074.4_Splice_Site|PTPRD_ENST00000537002.1_Intron|PTPRD_ENST00000397606.3_Intron	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D						heterophilic cell-cell adhesion (GO:0007157)|neuron differentiation (GO:0030182)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphate-containing compound metabolic process (GO:0006796)|positive regulation of dendrite morphogenesis (GO:0050775)|presynaptic membrane assembly (GO:0097105)|protein dephosphorylation (GO:0006470)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	cell adhesion molecule binding (GO:0050839)|receptor binding (GO:0005102)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)	p.?(2)		NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		AAATTACTCACATGTTCAGTA	0.333										TSP Lung(15;0.13)																												uc003zkk.2																			2	Unknown(2)		ovary(1)|lung(1)	lung(14)|large_intestine(3)|ovary(2)|breast(2)|urinary_tract(1)	22						c.e25+1		protein tyrosine phosphatase, receptor type, D							81.0	73.0	76.0					9																	8497241		2203	4300	6503	SO:0001630	splice_region_variant	5789				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr9:8497241C>A	X54133	CCDS6472.1, CCDS43786.1, CCDS6472.2, CCDS55288.1, CCDS55289.1, CCDS55290.1, CCDS75813.1	9p24.1-p23	2013-02-11			ENSG00000153707	ENSG00000153707		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	9668	protein-coding gene	gene with protein product		601598				7896816, 8355697	Standard	NM_002839		Approved	PTPD, HPTP	uc003zkk.3	P23468	OTTHUMG00000021005	ENST00000381196.4:c.2349+1G>T	9.37:g.8497241C>A		TSP Lung(15;0.13)				PTPRD_uc003zkp.2_Intron|PTPRD_uc003zkq.2_Intron|PTPRD_uc003zkr.2_Intron|PTPRD_uc003zks.2_Intron|PTPRD_uc003zkl.2_Intron|PTPRD_uc003zkm.2_Splice_Site_p.H770_splice|PTPRD_uc003zkn.2_Intron|PTPRD_uc003zko.2_Intron	p.H783_splice	NM_002839	NP_002830	P23468	PTPRD_HUMAN		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)	25	3060	-		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)						B1ALA0|F5GWT7|Q3KPJ0|Q3KPJ1|Q3KPJ2	Splice_Site	SNP	ENST00000381196.4	37	c.2349_splice	CCDS43786.1	.	.	.	.	.	.	.	.	.	.	C	23.6	4.434766	0.83885	.	.	ENSG00000153707	ENST00000381196;ENST00000356435;ENST00000360074;ENST00000540109	.	.	.	5.95	5.95	0.96441	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.0128	0.97467	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	PTPRD	8487241	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.380000	0.79704	2.827000	0.97445	0.650000	0.86243	.		PASS	0.333	PTPRD-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055395.3		Intron	21	21	21	21	---	---	---	---
NFIB	4781	broad.mit.edu	37	9	14307058	14307058	+	Silent	SNP	G	G	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr9:14307058G>T	ENST00000380959.3	-	2	965	c.492C>A	c.(490-492)gtC>gtA	p.V164V	NFIB_ENST00000380934.4_Silent_p.V190V|NFIB_ENST00000380953.1_Silent_p.V164V|NFIB_ENST00000397575.3_Silent_p.V164V|NFIB_ENST00000397581.2_Silent_p.V164V|NFIB_ENST00000380921.3_Silent_p.V164V|NFIB_ENST00000397579.2_Silent_p.V164V	NM_005596.3	NP_005587.2	O00712	NFIB_HUMAN	nuclear factor I/B	164					anterior commissure morphogenesis (GO:0021960)|chondrocyte differentiation (GO:0002062)|Clara cell differentiation (GO:0060486)|commissural neuron axon guidance (GO:0071679)|DNA replication (GO:0006260)|glial cell differentiation (GO:0010001)|hindbrain development (GO:0030902)|lung ciliated cell differentiation (GO:0061141)|negative regulation of DNA binding (GO:0043392)|negative regulation of epithelial cell proliferation involved in lung morphogenesis (GO:2000795)|negative regulation of mesenchymal cell proliferation involved in lung development (GO:2000791)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|principal sensory nucleus of trigeminal nerve development (GO:0021740)|transcription from RNA polymerase II promoter (GO:0006366)|Type I pneumocyte differentiation (GO:0060509)|Type II pneumocyte differentiation (GO:0060510)	cerebellar mossy fiber (GO:0044300)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II transcription corepressor activity (GO:0001106)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)	p.V164V(2)		central_nervous_system(2)|endometrium(2)|large_intestine(7)|lung(5)|skin(1)	17				GBM - Glioblastoma multiforme(50;4.4e-08)|LUAD - Lung adenocarcinoma(58;0.119)|Lung(218;0.164)		GATGTGGCTGGACACAAAGTG	0.458			T	"""MYB, HGMA2"""	"""adenoid cystic carcinoma, lipoma"""																																Esophageal Squamous(132;921 1730 14828 40753 46471)	uc003zle.2				Dom	yes		9	9p24.1	4781	T	nuclear factor I/B			E	MYB|HGMA2		adenoid cystic carcinoma|lipoma		2	Substitution - coding silent(2)		lung(2)		0						c.(490-492)GTC>GTA		nuclear factor I/B							152.0	139.0	143.0					9																	14307058		2203	4300	6503	SO:0001819	synonymous_variant	4781				anterior commissure morphogenesis|chondrocyte differentiation|Clara cell differentiation|commissural neuron axon guidance|DNA replication|glial cell differentiation|lung ciliated cell differentiation|negative regulation of DNA binding|negative regulation of epithelial cell proliferation involved in lung morphogenesis|negative regulation of mesenchymal cell proliferation involved in lung development|positive regulation of transcription from RNA polymerase II promoter|principal sensory nucleus of trigeminal nerve development|Type I pneumocyte differentiation|Type II pneumocyte differentiation	cerebellar mossy fiber|nucleolus|nucleus	RNA polymerase II transcription corepressor activity|sequence-specific DNA binding RNA polymerase II transcription factor activity	g.chr9:14307058G>T	U07810	CCDS6474.1, CCDS55291.1, CCDS55292.1, CCDS65007.1	9p24.1	2008-02-05			ENSG00000147862	ENSG00000147862			7785	protein-coding gene	gene with protein product		600728				7590749	Standard	NM_001190737		Approved	NFI-RED, NFIB2, NFIB3	uc003zlf.3	O00712	OTTHUMG00000021027	ENST00000380959.3:c.492C>A	9.37:g.14307058G>T						NFIB_uc003zlf.2_Silent_p.V164V|NFIB_uc011lmo.1_Silent_p.V164V	p.V164V	NM_005596	NP_005587	O00712	NFIB_HUMAN		GBM - Glioblastoma multiforme(50;4.4e-08)|LUAD - Lung adenocarcinoma(58;0.119)|Lung(218;0.164)	2	927	-			164			CTF/NF-I.		G3V1P1|H7BYE8|O00166|Q12858|Q5VW29|Q63HM5|Q6ZNF9|Q96J45	Silent	SNP	ENST00000380959.3	37	c.492C>A	CCDS6474.1																																																																																				PASS	0.458	NFIB-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000055468.1	NM_005596		90	50	90	50	---	---	---	---
CCDC171	203238	broad.mit.edu	37	9	15848936	15848936	+	Silent	SNP	G	G	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr9:15848936G>T	ENST00000380701.3	+	23	3787	c.3459G>T	c.(3457-3459)acG>acT	p.T1153T	CCDC171_ENST00000297641.3_Silent_p.T1153T	NM_173550.2	NP_775821.2	Q6TFL3	CC171_HUMAN	coiled-coil domain containing 171	1153								p.T1153T(1)|p.T420T(1)									TAGAAAATACGCTTCACAAGG	0.294																																						uc003zmd.2																			2	Substitution - coding silent(2)		lung(2)		0						c.(3457-3459)ACG>ACT		hypothetical protein LOC203238							80.0	88.0	85.0					9																	15848936		2201	4294	6495	SO:0001819	synonymous_variant	203238							g.chr9:15848936G>T	AY422473	CCDS6481.1	9p22.2	2012-03-26	2012-03-26	2012-03-26	ENSG00000164989	ENSG00000164989			29828	protein-coding gene	gene with protein product	"""myosin tail domain containing protein"""		"""chromosome 9 open reading frame 93"""	C9orf93		14702039	Standard	NM_173550		Approved	FLJ39267, FLJ46740, Em:AL513423.1, bA778P13.1, bA536D16.1	uc003zmd.3	Q6TFL3	OTTHUMG00000019584	ENST00000380701.3:c.3459G>T	9.37:g.15848936G>T						C9orf93_uc003zme.2_Silent_p.T1068T|C9orf93_uc011lmu.1_Silent_p.T1161T|C9orf93_uc003zmf.1_Silent_p.T461T	p.T1153T	NM_173550	NP_775821	Q6TFL3	CI093_HUMAN		GBM - Glioblastoma multiforme(50;4.84e-07)	23	3774	+			1153					B7ZM22|Q5SU58|Q6P1W1|Q6ZR13|Q8N1Z4|Q8N8L3|Q8TBR2	Silent	SNP	ENST00000380701.3	37	c.3459G>T	CCDS6481.1	.	.	.	.	.	.	.	.	.	.	G	6.251	0.414513	0.11870	.	.	ENSG00000164989	ENST00000449575;ENST00000432954	.	.	.	5.96	3.98	0.46160	.	.	.	.	.	T	0.47395	0.1443	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.44667	-0.9313	4	.	.	.	-0.0642	3.5223	0.07747	0.0883:0.1262:0.5409:0.2445	.	.	.	.	L	393;207	.	.	R	+	2	0	C9orf93	15838936	0.994000	0.37717	1.000000	0.80357	0.770000	0.43624	0.696000	0.25541	1.527000	0.49086	0.585000	0.79938	CGC		PASS	0.294	CCDC171-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051768.4	NM_173550		22	20	22	20	---	---	---	---
CNTLN	54875	broad.mit.edu	37	9	17487026	17487026	+	Nonsense_Mutation	SNP	G	G	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr9:17487026G>T	ENST00000380647.3	+	25	4165	c.4081G>T	c.(4081-4083)Gaa>Taa	p.E1361*	CNTLN_ENST00000262360.5_Nonsense_Mutation_p.E1361*|CNTLN_ENST00000425824.1_Nonsense_Mutation_p.E1361*			Q9NXG0	CNTLN_HUMAN	centlein, centrosomal protein	1361					centriole-centriole cohesion (GO:0010457)|protein localization to organelle (GO:0033365)	centriole (GO:0005814)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	phosphorelay sensor kinase activity (GO:0000155)|protein binding, bridging (GO:0030674)|protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)	p.E1361*(1)		breast(6)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(10)|lung(17)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	53				GBM - Glioblastoma multiforme(50;6.14e-10)		AAATGACAAGGAATGGATGTT	0.274																																						uc003zmz.2																			1	Substitution - Nonsense(1)		lung(1)	pancreas(1)	1						c.(4078-4080)GAA>TAA		centlein isoform 1							83.0	80.0	81.0					9																	17487026		1805	4064	5869	SO:0001587	stop_gained	54875					centriole|membrane	two-component sensor activity	g.chr9:17487026G>T	AK000283	CCDS43789.1, CCDS47953.1	9p22.2-p22.1	2008-11-11	2008-02-08	2008-02-08	ENSG00000044459	ENSG00000044459			23432	protein-coding gene	gene with protein product		611870	"""chromosome 9 open reading frame 101"", ""chromosome 9 open reading frame 39"""	C9orf101, C9orf39		18086554	Standard	XM_005251492		Approved	FLJ20276, bA340N12.1, OTTHUMG00000019597	uc003zmy.3	Q9NXG0	OTTHUMG00000019599	ENST00000380647.3:c.4081G>T	9.37:g.17487026G>T	ENSP00000370021:p.Glu1361*					CNTLN_uc003zmy.2_Nonsense_Mutation_p.E1361*|CNTLN_uc010mio.2_Nonsense_Mutation_p.E1040*	p.E1360*	NM_017738	NP_060208	Q9NXG0	CNTLN_HUMAN		GBM - Glioblastoma multiforme(50;6.14e-10)	25	4104	+			1361					A5Z2X6|Q5VYJ0|Q8N1G9|Q9HAJ5	Nonsense_Mutation	SNP	ENST00000380647.3	37	c.4078G>T	CCDS43789.1	.	.	.	.	.	.	.	.	.	.	G	43	9.959948	0.99305	.	.	ENSG00000044459	ENST00000380647;ENST00000425824;ENST00000262360	.	.	.	6.17	6.17	0.99709	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.59425	D	0.04	.	13.9957	0.64397	0.0685:0.0:0.9315:0.0	.	.	.	.	X	1361	.	ENSP00000262360:E1361X	E	+	1	0	CNTLN	17477026	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	3.565000	0.53798	2.941000	0.99782	0.655000	0.94253	GAA		PASS	0.274	CNTLN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000051793.3	NM_017738		44	44	44	44	---	---	---	---
FAM154A	158297	broad.mit.edu	37	9	18950896	18950896	+	Silent	SNP	A	A	G			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr9:18950896A>G	ENST00000380534.4	-	2	357	c.78T>C	c.(76-78)gaT>gaC	p.D26D	FAM154A_ENST00000380530.1_Silent_p.D26D|FAM154A_ENST00000542071.1_5'UTR|FAM154A_ENST00000583128.1_5'UTR	NM_153707.2	NP_714918.2	Q8IYX7	F154A_HUMAN	family with sequence similarity 154, member A	26								p.D26D(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(13)|pancreas(1)|prostate(1)|skin(1)	26				GBM - Glioblastoma multiforme(50;6.53e-16)		TCTCTGTTTTATCATAAATCT	0.443																																						uc003zni.1																			1	Substitution - coding silent(1)		lung(1)	pancreas(1)	1						c.(76-78)GAT>GAC		hypothetical protein LOC158297							166.0	155.0	159.0					9																	18950896		2203	4300	6503	SO:0001819	synonymous_variant	158297							g.chr9:18950896A>G	BC033489	CCDS6487.1, CCDS75819.1, CCDS75820.1	9p22.1	2012-03-23	2008-02-21	2008-02-21	ENSG00000155875	ENSG00000155875			28566	protein-coding gene	gene with protein product			"""chromosome 9 open reading frame 138"""	C9orf138		12477932	Standard	NM_153707		Approved	MGC35182	uc003zni.2	Q8IYX7	OTTHUMG00000019609	ENST00000380534.4:c.78T>C	9.37:g.18950896A>G						FAM154A_uc010mip.1_5'UTR	p.D26D	NM_153707	NP_714918	Q8IYX7	F154A_HUMAN		GBM - Glioblastoma multiforme(50;6.53e-16)	2	356	-			26					Q5VY58	Silent	SNP	ENST00000380534.4	37	c.78T>C	CCDS6487.1																																																																																				PASS	0.443	FAM154A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051811.1	NM_153707		113	71	113	71	---	---	---	---
TAF1L	138474	broad.mit.edu	37	9	32631522	32631522	+	Silent	SNP	C	C	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr9:32631522C>A	ENST00000242310.4	-	1	4145	c.4056G>T	c.(4054-4056)gtG>gtT	p.V1352V	RP11-555J4.4_ENST00000430787.1_RNA	NM_153809.2	NP_722516.1	Q8IZX4	TAF1L_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like	1352					DNA-templated transcription, initiation (GO:0006352)|histone acetylation (GO:0016573)|male meiosis (GO:0007140)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	transcription factor TFIID complex (GO:0005669)	DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|lysine-acetylated histone binding (GO:0070577)|protein serine/threonine kinase activity (GO:0004674)|TBP-class protein binding (GO:0017025)	p.V1352V(1)		breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	159			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)		GAACCTCATGCACATTCTCAA	0.408																																						uc003zrg.1																			1	Substitution - coding silent(1)		lung(1)	lung(8)|skin(6)|central_nervous_system(4)|large_intestine(3)|ovary(2)|stomach(1)|breast(1)|pancreas(1)	26						c.(4054-4056)GTG>GTT		TBP-associated factor RNA polymerase 1-like							241.0	239.0	239.0					9																	32631522		2203	4300	6503	SO:0001819	synonymous_variant	138474				male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	transcription factor TFIID complex	DNA binding|histone acetyltransferase activity|protein serine/threonine kinase activity|TBP-class protein binding	g.chr9:32631522C>A	AF390562	CCDS35003.1	9p12	2007-07-27	2007-07-27		ENSG00000122728	ENSG00000122728			18056	protein-coding gene	gene with protein product		607798	"""TAF1-like RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa"""			12217962	Standard	NM_153809		Approved		uc003zrg.1	Q8IZX4	OTTHUMG00000019747	ENST00000242310.4:c.4056G>T	9.37:g.32631522C>A						uc003zrh.1_5'Flank	p.V1352V	NM_153809	NP_722516	Q8IZX4	TAF1L_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)	1	4146	-			1352					Q0VG57	Silent	SNP	ENST00000242310.4	37	c.4056G>T	CCDS35003.1																																																																																				PASS	0.408	TAF1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052012.2			228	133	228	133	---	---	---	---
DNAI1	27019	broad.mit.edu	37	9	34493299	34493299	+	Missense_Mutation	SNP	G	G	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr9:34493299G>T	ENST00000242317.4	+	9	960	c.789G>T	c.(787-789)atG>atT	p.M263I	DNAI1_ENST00000488369.1_3'UTR	NM_001281428.1|NM_012144.2	NP_001268357.1|NP_036276.1	Q9UI46	DNAI1_HUMAN	dynein, axonemal, intermediate chain 1	263					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.M263I(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)		AGATGGCCATGAGGAAGCTGA	0.478									Kartagener syndrome																													uc003zum.2																			1	Substitution - Missense(1)		lung(1)		0						c.(787-789)ATG>ATT		dynein, axonemal, intermediate chain 1							108.0	104.0	105.0					9																	34493299		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.chr9:34493299G>T	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.789G>T	9.37:g.34493299G>T	ENSP00000242317:p.Met263Ile						p.M263I	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)	9	982	+	all_epithelial(49;0.244)		263					B7Z7U1|Q5T8G7|Q8NHQ7|Q9UEZ8	Missense_Mutation	SNP	ENST00000242317.4	37	c.789G>T	CCDS6557.1	.	.	.	.	.	.	.	.	.	.	g	3.687	-0.064264	0.07273	.	.	ENSG00000122735	ENST00000396929;ENST00000242317;ENST00000437363	T;T	0.27402	1.67;1.67	5.36	0.436	0.16549	.	0.657176	0.15150	N	0.277780	T	0.17916	0.0430	N	0.22421	0.69	0.43390	D	0.9955	B	0.12630	0.006	B	0.04013	0.001	T	0.06267	-1.0836	10	0.34782	T	0.22	.	7.9531	0.30027	0.421:0.0:0.579:0.0	.	263	Q9UI46	DNAI1_HUMAN	I	252;263;252	ENSP00000242317:M263I;ENSP00000395396:M252I	ENSP00000242317:M263I	M	+	3	0	DNAI1	34483299	0.865000	0.29922	0.072000	0.20136	0.059000	0.15707	1.186000	0.32078	-0.181000	0.10619	-1.309000	0.01313	ATG		PASS	0.478	DNAI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052192.1			84	46	84	46	---	---	---	---
PIGO	84720	broad.mit.edu	37	9	35091903	35091903	+	Missense_Mutation	SNP	C	C	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr9:35091903C>A	ENST00000378617.3	-	7	2375	c.1981G>T	c.(1981-1983)Gtg>Ttg	p.V661L	PIGO_ENST00000298004.5_Intron|PIGO_ENST00000341666.3_Missense_Mutation_p.V661L|PIGO_ENST00000361778.2_Intron	NM_032634.3	NP_116023.2	Q8TEQ8	PIGO_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class O	661					C-terminal protein lipidation (GO:0006501)|cellular protein metabolic process (GO:0044267)|GPI anchor biosynthetic process (GO:0006506)|post-translational protein modification (GO:0043687)|preassembly of GPI anchor in ER membrane (GO:0016254)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	transferase activity (GO:0016740)	p.V661L(1)		endometrium(3)|kidney(2)|large_intestine(8)|lung(13)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)	38			LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)			CGACCACCCACCATGGATGCC	0.557																																						uc003zwd.2																			1	Substitution - Missense(1)		lung(1)	large_intestine(1)|ovary(1)|skin(1)	3						c.(1981-1983)GTG>TTG		phosphatidylinositol glycan anchor biosynthesis,							55.0	55.0	55.0					9																	35091903		2203	4300	6503	SO:0001583	missense	84720				C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	transferase activity	g.chr9:35091903C>A	AB083625	CCDS6575.1, CCDS6576.1	9p13.2	2013-02-26	2006-06-28		ENSG00000165282	ENSG00000165282		"""Phosphatidylinositol glycan anchor biosynthesis"""	23215	protein-coding gene	gene with protein product		614730	"""phosphatidylinositol glycan, class O"""			10781593	Standard	NM_032634		Approved	DKFZp434M222, FLJ00135	uc003zwd.3	Q8TEQ8	OTTHUMG00000019854	ENST00000378617.3:c.1981G>T	9.37:g.35091903C>A	ENSP00000367880:p.Val661Leu					PIGO_uc003zwc.1_3'UTR|PIGO_uc003zwe.2_Intron|PIGO_uc003zwf.2_Intron|PIGO_uc003zwg.1_Missense_Mutation_p.V224L	p.V661L	NM_032634	NP_116023	Q8TEQ8	PIGO_HUMAN	LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)		7	2377	-			661					B1AML3|Q6P154|Q6UX80|Q8TDS8|Q96CS9|Q9BVN9|Q9Y4B0	Missense_Mutation	SNP	ENST00000378617.3	37	c.1981G>T	CCDS6575.1	.	.	.	.	.	.	.	.	.	.	C	7.387	0.630010	0.14257	.	.	ENSG00000165282	ENST00000378617;ENST00000341666	T;T	0.54479	0.57;0.57	5.44	5.44	0.79542	.	0.340595	0.31450	N	0.007640	T	0.38506	0.1043	L	0.51422	1.61	0.80722	D	1	B	0.31026	0.304	B	0.17979	0.02	T	0.29671	-1.0004	10	0.27785	T	0.31	-21.8122	5.4045	0.16314	0.0:0.6624:0.1824:0.1552	.	661	Q8TEQ8	PIGO_HUMAN	L	661	ENSP00000367880:V661L;ENSP00000339382:V661L	ENSP00000339382:V661L	V	-	1	0	PIGO	35081903	1.000000	0.71417	1.000000	0.80357	0.532000	0.34746	2.714000	0.47202	2.837000	0.97791	0.655000	0.94253	GTG		PASS	0.557	PIGO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052284.1	NM_032634		54	32	54	32	---	---	---	---
TRPM3	80036	broad.mit.edu	37	9	73235224	73235224	+	Missense_Mutation	SNP	C	C	G			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr9:73235224C>G	ENST00000377111.2	-	15	2104	c.1861G>C	c.(1861-1863)Gac>Cac	p.D621H	TRPM3_ENST00000377110.3_Missense_Mutation_p.D621H|TRPM3_ENST00000357533.2_Missense_Mutation_p.D625H|TRPM3_ENST00000396285.1_Missense_Mutation_p.D468H|TRPM3_ENST00000396280.5_Missense_Mutation_p.D470H|TRPM3_ENST00000423814.3_Missense_Mutation_p.D648H|TRPM3_ENST00000360823.2_Missense_Mutation_p.D483H|TRPM3_ENST00000396292.4_Missense_Mutation_p.D493H|TRPM3_ENST00000358082.3_Missense_Mutation_p.D483H|TRPM3_ENST00000377106.1_Missense_Mutation_p.D493H|TRPM3_ENST00000408909.2_Missense_Mutation_p.D480H|TRPM3_ENST00000377105.1_Missense_Mutation_p.D480H	NM_001007471.2	NP_001007472.2	Q9HCF6	TRPM3_HUMAN	transient receptor potential cation channel, subfamily M, member 3	646					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.D493H(1)|p.D625H(1)|p.D621H(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						AAGTCAATGTCCACCTCTTCT	0.468																																						uc004aid.2																			3	Substitution - Missense(3)		lung(3)	ovary(3)|pancreas(2)|central_nervous_system(2)|skin(2)	9						c.(1861-1863)GAC>CAC		transient receptor potential cation channel,							305.0	266.0	279.0					9																	73235224		2203	4300	6503	SO:0001583	missense	80036					integral to membrane	calcium channel activity	g.chr9:73235224C>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.1861G>C	9.37:g.73235224C>G	ENSP00000366315:p.Asp621His					TRPM3_uc004ahu.2_Missense_Mutation_p.D451H|TRPM3_uc004ahv.2_Missense_Mutation_p.D423H|TRPM3_uc004ahw.2_Missense_Mutation_p.D493H|TRPM3_uc004ahx.2_Missense_Mutation_p.D480H|TRPM3_uc004ahy.2_Missense_Mutation_p.D483H|TRPM3_uc004ahz.2_Missense_Mutation_p.D470H|TRPM3_uc004aia.2_Missense_Mutation_p.D468H|TRPM3_uc004aib.2_Missense_Mutation_p.D458H|TRPM3_uc004aic.2_Missense_Mutation_p.D621H	p.D621H	NM_001007471	NP_001007472	Q9HCF6	TRPM3_HUMAN			15	2105	-			646			Cytoplasmic (Potential).		A2A3F6|A9Z1Y7|Q5VW02|Q5VW03|Q5VW04|Q5W5T7|Q86SH0|Q86SH6|Q86UL0|Q86WK1|Q86WK2|Q86WK3|Q86WK4|Q86YZ9|Q86Z00|Q86Z01|Q9H0X2	Missense_Mutation	SNP	ENST00000377111.2	37	c.1861G>C		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	17.70|17.70	3.455461|3.455461	0.63401|0.63401	.|.	.|.	ENSG00000083067|ENSG00000083067	ENST00000377111;ENST00000377110;ENST00000377106;ENST00000360823;ENST00000377105;ENST00000357533;ENST00000408909;ENST00000396285;ENST00000396292;ENST00000358082;ENST00000423814|ENST00000396280	T;T;T;T;T;T;T;T;T;T;T|.	0.74002|.	-0.8;-0.8;-0.8;-0.8;-0.8;-0.8;-0.8;-0.8;-0.8;-0.8;-0.8|.	6.07|6.07	6.07|6.07	0.98685|0.98685	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.73048|0.73048	0.3537|0.3537	L|L	0.53249|0.53249	1.67|1.67	0.80722|0.80722	D|D	1|1	B;B;D;B;B;D;B;D|.	0.89917|.	0.209;0.044;1.0;0.133;0.133;0.999;0.072;0.99|.	B;B;D;B;B;D;B;P|.	0.79784|.	0.236;0.049;0.993;0.119;0.076;0.986;0.236;0.827|.	T|T	0.66870|0.66870	-0.5814|-0.5814	10|5	0.49607|.	T|.	0.09|.	-29.9999|-29.9999	20.6439|20.6439	0.99570|0.99570	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	621;621;611;625;483;480;593;468|.	Q9HCF6-2;Q9HCF6-10;Q9HCF6-4;A2A3F7;A2A3F4;G5E9G1;Q9HCF6-8;A2A3F3|.	.;.;.;.;.;.;.;.|.	H|A	621;621;493;483;480;625;480;468;493;483;648|469	ENSP00000366315:D621H;ENSP00000366314:D621H;ENSP00000366310:D493H;ENSP00000354066:D483H;ENSP00000366309:D480H;ENSP00000350140:D625H;ENSP00000386127:D480H;ENSP00000379581:D468H;ENSP00000379587:D493H;ENSP00000350791:D483H;ENSP00000389542:D648H|.	ENSP00000350140:D625H|.	D|G	-|-	1|2	0|0	TRPM3|TRPM3	72425044|72425044	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.889000|0.889000	0.51656|0.51656	7.818000|7.818000	0.86416|0.86416	2.890000|2.890000	0.99128|0.99128	0.650000|0.650000	0.86243|0.86243	GAC|GGA		PASS	0.468	TRPM3-007	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000214157.5	NM_206945		56	195	56	195	---	---	---	---
GDA	9615	broad.mit.edu	37	9	74828854	74828854	+	Missense_Mutation	SNP	C	C	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr9:74828854C>A	ENST00000358399.3	+	5	618	c.525C>A	c.(523-525)gaC>gaA	p.D175E	GDA_ENST00000238018.4_Missense_Mutation_p.D175E|GDA_ENST00000376986.1_Missense_Mutation_p.D133E|GDA_ENST00000477618.1_3'UTR|GDA_ENST00000376989.3_Missense_Mutation_p.D150E|GDA_ENST00000545168.1_Missense_Mutation_p.D101E	NM_001242505.2|NM_001242506.2|NM_004293.4	NP_001229434.1|NP_001229435.1|NP_004284.1	Q9Y2T3	GUAD_HUMAN	guanine deaminase	175					guanine catabolic process (GO:0006147)|nervous system development (GO:0007399)|nucleobase-containing compound metabolic process (GO:0006139)|nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase metabolic process (GO:0006144)|purine nucleotide catabolic process (GO:0006195)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)	guanine deaminase activity (GO:0008892)|zinc ion binding (GO:0008270)	p.D175E(2)		central_nervous_system(4)|endometrium(1)|kidney(1)|large_intestine(1)|lung(20)|ovary(2)|skin(2)|urinary_tract(1)	32		Myeloproliferative disorder(762;0.0122)		Lung(182;0.0583)		ATTTGAATGACACTTTTCCAG	0.388																																						uc004aiq.2																			2	Substitution - Missense(2)		lung(2)	ovary(2)|central_nervous_system(2)|skin(1)	5						c.(523-525)GAC>GAA		guanine deaminase							142.0	136.0	138.0					9																	74828854		2203	4300	6503	SO:0001583	missense	9615				nervous system development|purine base metabolic process|purine nucleotide catabolic process	cytosol	guanine deaminase activity|zinc ion binding	g.chr9:74828854C>A	AF095286	CCDS6641.1, CCDS56576.1, CCDS56577.1	9q21.13	2008-05-14			ENSG00000119125	ENSG00000119125			4212	protein-coding gene	gene with protein product		139260				10075721, 3966794	Standard	NM_001242507		Approved		uc004air.3	Q9Y2T3	OTTHUMG00000020005	ENST00000358399.3:c.525C>A	9.37:g.74828854C>A	ENSP00000351170:p.Asp175Glu					GDA_uc011lse.1_Missense_Mutation_p.D101E|GDA_uc011lsf.1_Missense_Mutation_p.D101E|GDA_uc004air.2_Missense_Mutation_p.D175E|GDA_uc010mow.1_RNA|GDA_uc004ais.2_Missense_Mutation_p.D133E|GDA_uc004ait.1_Missense_Mutation_p.D101E	p.D175E	NM_004293	NP_004284	Q9Y2T3	GUAD_HUMAN		Lung(182;0.0583)	5	708	+		Myeloproliferative disorder(762;0.0122)	175					B4DTY5|Q5SZC7|Q9H335|Q9ULG2	Missense_Mutation	SNP	ENST00000358399.3	37	c.525C>A	CCDS6641.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	5.981|5.981	0.364907|0.364907	0.11296|0.11296	.|.	.|.	ENSG00000119125|ENSG00000119125	ENST00000545168;ENST00000238018;ENST00000376989;ENST00000376986;ENST00000358399|ENST00000414671	D;D;D;D;D|T	0.89681|0.44881	-2.55;-2.55;-2.55;-2.55;-2.55|0.91	5.64|5.64	1.43|1.43	0.22495|0.22495	Amidohydrolase 1 (1);|.	1.221480|.	0.05215|.	N|.	0.507382|.	T|T	0.26955|0.26955	0.0660|0.0660	N|N	0.19112|0.19112	0.55|0.55	0.09310|0.09310	N|N	1|1	B;B;B|.	0.02656|.	0.0;0.0;0.0|.	B;B;B|.	0.10450|.	0.005;0.0;0.0|.	T|T	0.26292|0.26292	-1.0107|-1.0107	10|7	0.22706|0.87932	T|D	0.39|0	-1.3304|-1.3304	3.0055|3.0055	0.06027|0.06027	0.2708:0.4823:0.1049:0.142|0.2708:0.4823:0.1049:0.142	.|.	133;175;175|.	Q5SZC6;Q9Y2T3-3;Q9Y2T3|.	.;.;GUAD_HUMAN|.	E|K	101;175;150;133;175|2	ENSP00000437972:D101E;ENSP00000238018:D175E;ENSP00000366188:D150E;ENSP00000366185:D133E;ENSP00000351170:D175E|ENSP00000403897:T2K	ENSP00000238018:D175E|ENSP00000403897:T2K	D|T	+|+	3|2	2|0	GDA|GDA	74018674|74018674	0.000000|0.000000	0.05858|0.05858	0.132000|0.132000	0.22025|0.22025	0.805000|0.805000	0.45488|0.45488	-0.994000|-0.994000	0.03716|0.03716	0.305000|0.305000	0.22832|0.22832	0.591000|0.591000	0.81541|0.81541	GAC|ACA		PASS	0.388	GDA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052633.1			18	60	18	60	---	---	---	---
ZFAND5	7763	broad.mit.edu	37	9	74970881	74970881	+	Silent	SNP	A	A	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr9:74970881A>T	ENST00000237937.3	-	6	1187	c.630T>A	c.(628-630)atT>atA	p.I210I	ZFAND5_ENST00000376962.5_Silent_p.I210I|ZFAND5_ENST00000488164.1_5'UTR|ZFAND5_ENST00000343431.2_Silent_p.I210I|ZFAND5_ENST00000376960.4_Silent_p.I210I	NM_001102421.1|NM_001278243.1|NM_001278244.1|NM_001278245.1|NM_006007.2	NP_001095891.1|NP_001265172.1|NP_001265173.1|NP_001265174.1|NP_005998.1	O76080	ZFAN5_HUMAN	zinc finger, AN1-type domain 5	210					face development (GO:0060324)|fibroblast migration (GO:0010761)|in utero embryonic development (GO:0001701)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|respiratory system process (GO:0003016)|skeletal system morphogenesis (GO:0048705)|smooth muscle tissue development (GO:0048745)|vasculature development (GO:0001944)	cytoplasm (GO:0005737)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)	p.I210I(1)		cervix(1)|kidney(2)|lung(2)|prostate(1)	6						ATATTCTCTGAATTTTTTCAG	0.343																																						uc004aiv.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(628-630)ATT>ATA		zinc finger, AN1-type domain 5							53.0	51.0	52.0					9																	74970881		2202	4294	6496	SO:0001819	synonymous_variant	7763						DNA binding|zinc ion binding	g.chr9:74970881A>T	AF062072	CCDS6642.1	9q13-q21	2008-05-02	2006-07-07	2006-07-07	ENSG00000107372	ENSG00000107372		"""Zinc fingers, AN1-type domain containing"""	13008	protein-coding gene	gene with protein product		604761	"""zinc finger protein 216"", ""zinc finger, A20 domain containing 2"""	ZNF216, ZA20D2		9758550	Standard	NM_001278243		Approved	ZFAND5A	uc004aiy.2	O76080	OTTHUMG00000020008	ENST00000237937.3:c.630T>A	9.37:g.74970881A>T						ZFAND5_uc010mox.1_Silent_p.I107I|ZFAND5_uc010moy.1_Silent_p.I210I|ZFAND5_uc004aix.2_Silent_p.I210I|ZFAND5_uc004aiw.2_Silent_p.I210I|ZFAND5_uc004aiy.2_Silent_p.I210I	p.I210I	NM_006007	NP_005998	O76080	ZFAN5_HUMAN			6	908	-			210					A8K484	Silent	SNP	ENST00000237937.3	37	c.630T>A	CCDS6642.1																																																																																				PASS	0.343	ZFAND5-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052644.1			15	58	15	58	---	---	---	---
TRPM6	140803	broad.mit.edu	37	9	77442862	77442862	+	Missense_Mutation	SNP	C	C	A	rs139476357		TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr9:77442862C>A	ENST00000360774.1	-	7	910	c.673G>T	c.(673-675)Gtg>Ttg	p.V225L	TRPM6_ENST00000361255.3_Missense_Mutation_p.V220L|TRPM6_ENST00000449912.2_Missense_Mutation_p.V220L|TRPM6_ENST00000451710.3_Missense_Mutation_p.V225L|TRPM6_ENST00000376864.4_Missense_Mutation_p.V225L|TRPM6_ENST00000359047.2_Missense_Mutation_p.V225L|TRPM6_ENST00000376872.3_Missense_Mutation_p.V225L|TRPM6_ENST00000483186.1_5'UTR|TRPM6_ENST00000376871.3_Missense_Mutation_p.V225L	NM_017662.4	NP_060132.3	Q9BX84	TRPM6_HUMAN	transient receptor potential cation channel, subfamily M, member 6	225					calcium ion transmembrane transport (GO:0070588)|ion transmembrane transport (GO:0034220)|response to toxic substance (GO:0009636)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium channel activity (GO:0005262)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)	p.V225L(1)		NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|liver(1)|lung(53)|ovary(1)|prostate(7)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	126						TACAGGCACACCACCTGAGAG	0.532																																						uc004ajl.1																			1	Substitution - Missense(1)		lung(1)	lung(3)|stomach(2)|haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1)|skin(1)	8						c.(673-675)GTG>TTG		transient receptor potential cation channel,		C	LEU/VAL,LEU/VAL,LEU/VAL	0,4406		0,0,2203	132.0	118.0	123.0		658,658,673	4.0	1.0	9	dbSNP_134	123	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense	TRPM6	NM_001177310.1,NM_001177311.1,NM_017662.4	32,32,32	0,1,6502	AA,AC,CC		0.0116,0.0,0.0077	benign,benign,benign	220/2018,220/2018,225/2023	77442862	1,13005	2203	4300	6503	SO:0001583	missense	140803				response to toxin	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein binding|protein serine/threonine kinase activity	g.chr9:77442862C>A	AK026281	CCDS6647.1, CCDS55318.1, CCDS55319.1	9q21.13	2011-12-14	2003-12-02		ENSG00000119121	ENSG00000119121		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	17995	protein-coding gene	gene with protein product		607009	"""hypomagnesemia, secondary hypocalcemia"""	HOMG, HSH		10021370, 12032570, 16382100	Standard	NM_017662		Approved	CHAK2, FLJ22628	uc004ajk.1	Q9BX84	OTTHUMG00000020027	ENST00000360774.1:c.673G>T	9.37:g.77442862C>A	ENSP00000354006:p.Val225Leu					TRPM6_uc004ajk.1_Missense_Mutation_p.V220L|TRPM6_uc010mpb.1_RNA|TRPM6_uc010mpc.1_Missense_Mutation_p.V225L|TRPM6_uc010mpd.1_Missense_Mutation_p.V225L|TRPM6_uc010mpe.1_Missense_Mutation_p.V225L|TRPM6_uc004ajn.1_Missense_Mutation_p.V225L	p.V225L	NM_017662	NP_060132	Q9BX84	TRPM6_HUMAN			7	911	-			225			Cytoplasmic (Potential).		Q6VPR8|Q6VPR9|Q6VPS0|Q6VPS1|Q6VPS2	Missense_Mutation	SNP	ENST00000360774.1	37	c.673G>T	CCDS6647.1	.	.	.	.	.	.	.	.	.	.	C	13.26	2.185263	0.38609	0.0	1.16E-4	ENSG00000119121	ENST00000360774;ENST00000451710;ENST00000376872;ENST00000376871;ENST00000449912;ENST00000361255;ENST00000376870;ENST00000376864;ENST00000359047	T;T;T;T;T;T;T;T	0.35789	1.29;1.29;1.29;1.29;1.29;1.29;1.29;4.09	4.87	3.96	0.45880	.	0.169375	0.52532	N	0.000067	T	0.34687	0.0906	L	0.42487	1.325	0.48762	D	0.999708	B;B;B;B;B;P	0.46578	0.003;0.003;0.003;0.016;0.23;0.88	B;B;B;B;B;B	0.43251	0.005;0.005;0.005;0.017;0.119;0.413	T	0.14200	-1.0481	10	0.45353	T	0.12	.	14.9058	0.70718	0.1442:0.8558:0.0:0.0	.	225;225;225;225;225;220	Q9BX84-7;Q9BX84-6;Q9BX84-5;Q96LV9;Q9BX84;Q9BX84-3	.;.;.;.;TRPM6_HUMAN;.	L	225;225;225;225;220;220;224;225;225	ENSP00000354006:V225L;ENSP00000407341:V225L;ENSP00000366068:V225L;ENSP00000366067:V225L;ENSP00000396672:V220L;ENSP00000354962:V220L;ENSP00000366060:V225L;ENSP00000351942:V225L	ENSP00000351942:V225L	V	-	1	0	TRPM6	76632682	0.891000	0.30450	1.000000	0.80357	0.474000	0.32979	1.823000	0.39062	1.165000	0.42670	0.591000	0.81541	GTG		PASS	0.532	TRPM6-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000052693.1	NM_017662		12	46	12	46	---	---	---	---
C9orf40	55071	broad.mit.edu	37	9	77563085	77563085	+	Missense_Mutation	SNP	T	T	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr9:77563085T>A	ENST00000376854.5	-	2	738	c.464A>T	c.(463-465)tAc>tTc	p.Y155F		NM_017998.2	NP_060468.2	Q8IXQ3	CI040_HUMAN	chromosome 9 open reading frame 40	155								p.Y155F(1)		lung(2)|stomach(1)	3						ATTCCTCCAGTACTGGAAGGT	0.388																																						uc004ajo.3																			1	Substitution - Missense(1)		lung(1)		0						c.(463-465)TAC>TTC		hypothetical protein LOC55071							109.0	102.0	104.0					9																	77563085		2203	4300	6503	SO:0001583	missense	55071							g.chr9:77563085T>A	AK000972	CCDS6648.1	9q21.31	2012-03-15			ENSG00000135045	ENSG00000135045			23433	protein-coding gene	gene with protein product							Standard	NM_017998		Approved	FLJ10110	uc004ajo.4	Q8IXQ3	OTTHUMG00000020031	ENST00000376854.5:c.464A>T	9.37:g.77563085T>A	ENSP00000366050:p.Tyr155Phe						p.Y155F	NM_017998	NP_060468	Q8IXQ3	CI040_HUMAN			2	739	-			155					Q9NWD3	Missense_Mutation	SNP	ENST00000376854.5	37	c.464A>T	CCDS6648.1	.	.	.	.	.	.	.	.	.	.	T	20.5	3.996826	0.74818	.	.	ENSG00000135045	ENST00000376854	.	.	.	5.98	3.56	0.40772	.	0.000000	0.43260	D	0.000585	T	0.47967	0.1474	M	0.63843	1.955	0.28481	N	0.914945	P	0.51537	0.946	P	0.52646	0.705	T	0.42103	-0.9471	9	0.38643	T	0.18	-13.0327	8.6141	0.33820	0.3074:0.0:0.0:0.6926	.	155	Q8IXQ3	CI040_HUMAN	F	155	.	ENSP00000366050:Y155F	Y	-	2	0	C9orf40	76752905	1.000000	0.71417	0.999000	0.59377	0.983000	0.72400	2.650000	0.46665	0.463000	0.27118	-0.333000	0.08304	TAC		PASS	0.388	C9orf40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052702.1	NM_017998		27	87	27	87	---	---	---	---
PRUNE2	158471	broad.mit.edu	37	9	79320494	79320494	+	Silent	SNP	T	T	G			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr9:79320494T>G	ENST00000376718.3	-	8	6819	c.6696A>C	c.(6694-6696)gcA>gcC	p.A2232A	PRUNE2_ENST00000428286.1_Silent_p.A1873A	NM_015225.2	NP_056040.2	Q8WUY3	PRUN2_HUMAN	prune homolog 2 (Drosophila)	2232					apoptotic process (GO:0006915)	cytoplasm (GO:0005737)	metal ion binding (GO:0046872)|pyrophosphatase activity (GO:0016462)	p.A2232A(1)		endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						AAATGCTAGTTGCCACATTTT	0.443																																						uc010mpk.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(6694-6696)GCA>GCC		prune homolog 2							77.0	73.0	74.0					9																	79320494		1568	3582	5150	SO:0001819	synonymous_variant	158471				apoptosis|G1 phase|induction of apoptosis	cytoplasm	metal ion binding|pyrophosphatase activity	g.chr9:79320494T>G	BC019095	CCDS47982.1	9q21.32	2013-04-29	2006-11-24	2006-11-24	ENSG00000106772	ENSG00000106772			25209	protein-coding gene	gene with protein product	"""olfaxin"""	610691	"""chromosome 9 open reading frame 65"", ""KIAA0367"""	C9orf65, KIAA0367		16288218	Standard	NM_015225		Approved	BMCC1, BNIPXL, A214N16.3, bA214N16.3	uc010mpk.3	Q8WUY3	OTTHUMG00000020047	ENST00000376718.3:c.6696A>C	9.37:g.79320494T>G						PRUNE2_uc004akj.3_5'Flank|PRUNE2_uc010mpl.1_5'Flank	p.A2232A	NM_015225	NP_056040	Q8WUY3	PRUN2_HUMAN			8	6820	-			2232					B3KYC4|B4DQH8|O15073|Q58A63|Q5JUB6|Q5T304|Q5T476|Q6T2V6|Q6T2V7|Q8N665	Silent	SNP	ENST00000376718.3	37	c.6696A>C	CCDS47982.1	.	.	.	.	.	.	.	.	.	.	T	4.810	0.150548	0.09185	.	.	ENSG00000106772	ENST00000426088	.	.	.	5.42	-8.34	0.00988	.	.	.	.	.	T	0.16257	0.0391	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.21999	-1.0229	4	.	.	.	-6.7141	3.3487	0.07145	0.1053:0.1906:0.4345:0.2696	.	.	.	.	H	1554	.	.	N	-	1	0	PRUNE2	78510314	0.000000	0.05858	0.000000	0.03702	0.016000	0.09150	-0.139000	0.10358	-1.366000	0.02155	-1.089000	0.02181	AAC		PASS	0.443	PRUNE2-003	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052730.2	NM_138818		20	59	20	59	---	---	---	---
TLE4	7091	broad.mit.edu	37	9	82323695	82323695	+	Silent	SNP	A	A	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr9:82323695A>T	ENST00000376552.2	+	13	2275	c.1257A>T	c.(1255-1257)tcA>tcT	p.S419S	TLE4_ENST00000376534.4_Silent_p.S56S|TLE4_ENST00000265284.6_Silent_p.S394S|TLE4_ENST00000376544.3_Silent_p.S350S|TLE4_ENST00000376537.4_Silent_p.S451S|TLE4_ENST00000376520.4_Silent_p.S451S	NM_007005.3	NP_008936.2	Q04727	TLE4_HUMAN	transducin-like enhancer of split 4	419					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|Wnt signaling pathway (GO:0016055)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|transcription corepressor activity (GO:0003714)	p.S419S(1)|p.S451S(1)		breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(10)|lung(12)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	39						ATGGGAGATCACCAGTGGTGC	0.582																																						uc004ald.2																			2	Substitution - coding silent(2)		lung(2)	lung(2)|ovary(1)|breast(1)|skin(1)	5						c.(1330-1332)TCA>TCT		transducin-like enhancer protein 4							16.0	19.0	18.0					9																	82323695		2012	4198	6210	SO:0001819	synonymous_variant	7091							g.chr9:82323695A>T	M99439	CCDS43837.1, CCDS65069.1, CCDS65070.1, CCDS75851.1	9q21.32	2014-03-07	2014-03-07		ENSG00000106829	ENSG00000106829		"""WD repeat domain containing"""	11840	protein-coding gene	gene with protein product		605132	"""transducin-like enhancer of split 4, homolog of Drosophila E(sp1)"", ""transducin-like enhancer of split 4 (E(sp1) homolog, Drosophila)"""			8365415	Standard	XM_005252167		Approved	E(spI), ESG, GRG4	uc004alc.3	Q04727	OTTHUMG00000020072	ENST00000376552.2:c.1257A>T	9.37:g.82323695A>T						TLE4_uc004alc.2_Silent_p.S419S|TLE4_uc010mpr.2_Silent_p.S298S|TLE4_uc004ale.2_Silent_p.S56S|TLE4_uc011lsq.1_Silent_p.S387S|TLE4_uc010mps.2_Silent_p.S343S|TLE4_uc004alf.2_Silent_p.S358S	p.S444S	NM_007005	NP_008936	O60756	BCE1_HUMAN			14	2181	+			Error:Variant_position_missing_in_O60756_after_alignment					F8W6T6|Q3ZCS1|Q5T1Y2|Q6PCB3|Q9BZ07|Q9BZ08|Q9BZ09|Q9NSL3|Q9ULF9	Silent	SNP	ENST00000376552.2	37	c.1332A>T	CCDS43837.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	11.96|11.96	1.796036|1.796036	0.31777|0.31777	.|.	.|.	ENSG00000106829|ENSG00000106829	ENST00000417836|ENST00000496114	.|.	.|.	.|.	6.16|6.16	-9.07|-9.07	0.00724|0.00724	.|.	.|.	.|.	.|.	.|.	T|T	0.32734|0.32734	0.0839|0.0839	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.43523|0.43523	-0.9386|-0.9386	4|4	.|.	.|.	.|.	-14.9164|-14.9164	1.6744|1.6744	0.02818|0.02818	0.1644:0.3198:0.1333:0.3825|0.1644:0.3198:0.1333:0.3825	.|.	.|.	.|.	.|.	L|S	184|210	.|.	.|.	H|T	+|+	2|1	0|0	TLE4|TLE4	81513515|81513515	0.016000|0.016000	0.18221|0.18221	0.393000|0.393000	0.26258|0.26258	0.297000|0.297000	0.27493|0.27493	-0.819000|-0.819000	0.04462|0.04462	-1.142000|-1.142000	0.02869|0.02869	-0.256000|-0.256000	0.11100|0.11100	CAC|ACC		PASS	0.582	TLE4-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052792.4	XM_212237		6	14	6	14	---	---	---	---
SPATA31D1	389763	broad.mit.edu	37	9	84608354	84608354	+	Missense_Mutation	SNP	C	C	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr9:84608354C>A	ENST00000344803.2	+	4	3016	c.2969C>A	c.(2968-2970)tCc>tAc	p.S990Y		NM_001001670.2	NP_001001670.1	Q6ZQQ2	S31D1_HUMAN	SPATA31 subfamily D, member 1	990					cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)		p.S990Y(2)									CACCCTGTCTCCTCACCTGTC	0.502																																						uc004amn.2																			2	Substitution - Missense(2)		lung(2)		0						c.(2968-2970)TCC>TAC		hypothetical protein LOC389763							140.0	143.0	142.0					9																	84608354		1951	4146	6097	SO:0001583	missense	389763					integral to membrane		g.chr9:84608354C>A		CCDS47986.1	9q21.32	2012-10-12	2012-10-12	2012-10-12	ENSG00000214929	ENSG00000214929			37283	protein-coding gene	gene with protein product			"""family with sequence similarity 75, member D1"""	FAM75D1			Standard	NM_001001670		Approved	FLJ46321	uc004amn.3	Q6ZQQ2	OTTHUMG00000169122	ENST00000344803.2:c.2969C>A	9.37:g.84608354C>A	ENSP00000341988:p.Ser990Tyr						p.S990Y	NM_001001670	NP_001001670	Q6ZQQ2	F75D1_HUMAN			4	3016	+			990						Missense_Mutation	SNP	ENST00000344803.2	37	c.2969C>A	CCDS47986.1	.	.	.	.	.	.	.	.	.	.	C	4.448	0.082879	0.08533	.	.	ENSG00000214929	ENST00000344803	T	0.06371	3.31	2.45	-0.636	0.11508	.	.	.	.	.	T	0.06917	0.0176	N	0.08118	0	0.09310	N	1	D	0.64830	0.994	P	0.61592	0.891	T	0.36089	-0.9762	9	0.72032	D	0.01	.	5.2446	0.15490	0.0:0.5394:0.0:0.4606	.	990	Q6ZQQ2	F75D1_HUMAN	Y	990	ENSP00000341988:S990Y	ENSP00000341988:S990Y	S	+	2	0	FAM75D1	83798174	0.000000	0.05858	0.006000	0.13384	0.007000	0.05969	0.138000	0.16016	-0.122000	0.11766	-0.300000	0.09419	TCC		PASS	0.502	SPATA31D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402325.1	NM_001001670		66	184	66	184	---	---	---	---
KIF27	55582	broad.mit.edu	37	9	86503502	86503502	+	Missense_Mutation	SNP	C	C	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr9:86503502C>A	ENST00000297814.2	-	8	2128	c.1985G>T	c.(1984-1986)aGa>aTa	p.R662I	KIF27_ENST00000376347.1_Missense_Mutation_p.R53I|KIF27_ENST00000334204.2_Missense_Mutation_p.R662I|KIF27_ENST00000413982.1_Missense_Mutation_p.R662I	NM_017576.1	NP_060046.1	Q86VH2	KIF27_HUMAN	kinesin family member 27	662					ATP catabolic process (GO:0006200)|cilium assembly (GO:0042384)|epithelial cilium movement (GO:0003351)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|smoothened signaling pathway (GO:0007224)|ventricular system development (GO:0021591)	cilium (GO:0005929)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.R662I(1)		breast(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(7)|lung(17)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	43						TGAACGACTTCTACATCTTAA	0.338																																						uc004ana.2																			1	Substitution - Missense(1)		lung(1)	lung(4)|skin(1)	5						c.(1984-1986)AGA>ATA		kinesin family member 27							54.0	54.0	54.0					9																	86503502		2203	4300	6503	SO:0001583	missense	55582				cilium assembly|microtubule-based movement	cilium|cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr9:86503502C>A	AY237536	CCDS6665.1, CCDS65071.1, CCDS65072.1	9q21.32	2008-03-03			ENSG00000165115	ENSG00000165115		"""Kinesins"""	18632	protein-coding gene	gene with protein product		611253					Standard	NM_017576		Approved	DKFZp434D0917	uc004ana.4	Q86VH2	OTTHUMG00000020109	ENST00000297814.2:c.1985G>T	9.37:g.86503502C>A	ENSP00000297814:p.Arg662Ile					KIF27_uc010mpw.2_Missense_Mutation_p.R662I|KIF27_uc010mpx.2_Missense_Mutation_p.R662I	p.R662I	NM_017576	NP_060046	Q86VH2	KIF27_HUMAN			8	2129	-			662					B2RTR8|Q5T6W0|Q86VH0|Q86VH1|Q9UF54	Missense_Mutation	SNP	ENST00000297814.2	37	c.1985G>T	CCDS6665.1	.	.	.	.	.	.	.	.	.	.	C	11.30	1.598349	0.28445	.	.	ENSG00000165115	ENST00000297814;ENST00000413982;ENST00000334204;ENST00000376347	T;T;T;T	0.49432	0.78;0.78;0.78;0.78	4.27	-2.72	0.05968	.	0.498482	0.16987	N	0.191476	T	0.35799	0.0944	L	0.59436	1.845	0.09310	N	0.999999	B;B;B	0.33171	0.4;0.276;0.001	B;B;B	0.36030	0.118;0.216;0.001	T	0.30679	-0.9970	10	0.19590	T	0.45	.	5.4787	0.16710	0.0:0.301:0.4273:0.2717	.	662;662;662	Q86VH2-3;Q86VH2-2;Q86VH2	.;.;KIF27_HUMAN	I	662;662;662;53	ENSP00000297814:R662I;ENSP00000401688:R662I;ENSP00000333928:R662I;ENSP00000365525:R53I	ENSP00000297814:R662I	R	-	2	0	KIF27	85693322	0.951000	0.32395	0.002000	0.10522	0.598000	0.36846	0.121000	0.15667	-0.669000	0.05289	-1.692000	0.00727	AGA		PASS	0.338	KIF27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052861.1	NM_017576		16	46	16	46	---	---	---	---
SLC28A3	64078	broad.mit.edu	37	9	86893173	86893173	+	Missense_Mutation	SNP	G	G	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr9:86893173G>A	ENST00000376238.4	-	18	2085	c.2036C>T	c.(2035-2037)cCa>cTa	p.P679L	RP11-380F14.2_ENST00000419815.1_RNA|SLC28A3_ENST00000537648.1_Missense_Mutation_p.P610L	NM_001199633.1|NM_022127.2	NP_001186562.1|NP_071410.1	Q9HAS3	S28A3_HUMAN	solute carrier family 28 (concentrative nucleoside transporter), member 3	679					pyrimidine nucleoside transport (GO:0015864)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	nucleoside binding (GO:0001882)|purine-specific nucleoside:sodium symporter activity (GO:0015390)|pyrimidine- and adenine-specific:sodium symporter activity (GO:0015389)	p.P679L(1)		endometrium(2)|large_intestine(6)|lung(17)|ovary(1)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	31					Adenosine(DB00640)|Cladribine(DB00242)|Fludarabine(DB01073)|Gemcitabine(DB00441)|Mercaptopurine(DB01033)|Ribavirin(DB00811)	AAAGGTCGATGGATTCAACAA	0.463																																					Ovarian(106;425 1539 34835 42413 43572)	uc010mpz.2																			1	Substitution - Missense(1)		lung(1)	upper_aerodigestive_tract(1)|ovary(1)|pancreas(1)|skin(1)	4						c.(2035-2037)CCA>CTA		concentrative Na+-nucleoside cotransporter							95.0	86.0	89.0					9																	86893173		2203	4300	6503	SO:0001583	missense	64078				nucleobase, nucleoside and nucleotide metabolic process	integral to membrane|plasma membrane	nucleoside binding	g.chr9:86893173G>A	AF305210	CCDS6670.1	9q21.33	2013-07-17	2013-07-17		ENSG00000197506	ENSG00000197506		"""Solute carriers"""	16484	protein-coding gene	gene with protein product		608269	"""solute carrier family 28 (sodium-coupled nucleoside transporter), member 3"""			11032837	Standard	NM_001199633		Approved	CNT3	uc010mpz.3	Q9HAS3	OTTHUMG00000020117	ENST00000376238.4:c.2036C>T	9.37:g.86893173G>A	ENSP00000365413:p.Pro679Leu					SLC28A3_uc011lsy.1_Missense_Mutation_p.P610L|SLC28A3_uc004anu.1_Missense_Mutation_p.P679L	p.P679L	NM_022127	NP_071410	Q9HAS3	S28A3_HUMAN			18	2161	-			679			Extracellular (Potential).		A8K9Y4|B1AML0|B2RA51|B4E2S8|F5GYE3	Missense_Mutation	SNP	ENST00000376238.4	37	c.2036C>T	CCDS6670.1	.	.	.	.	.	.	.	.	.	.	G	10.58	1.388890	0.25118	.	.	ENSG00000197506	ENST00000376238;ENST00000537648	T;T	0.01787	4.84;4.64	5.98	4.07	0.47477	.	0.307790	0.35235	N	0.003354	T	0.02230	0.0069	M	0.64997	1.995	0.09310	N	1	B	0.16396	0.017	B	0.09377	0.004	T	0.40251	-0.9573	10	0.36615	T	0.2	-7.7008	4.2321	0.10608	0.0773:0.1355:0.5204:0.2668	.	679	Q9HAS3	S28A3_HUMAN	L	679;610	ENSP00000365413:P679L;ENSP00000446438:P610L	ENSP00000365413:P679L	P	-	2	0	SLC28A3	86082993	0.201000	0.23410	0.094000	0.20943	0.469000	0.32828	1.585000	0.36600	2.838000	0.97847	0.591000	0.81541	CCA		PASS	0.463	SLC28A3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000052874.1	NM_022127		14	37	14	37	---	---	---	---
NXNL2	158046	broad.mit.edu	37	9	91150625	91150625	+	Silent	SNP	G	G	C			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr9:91150625G>C	ENST00000375854.3	+	1	610	c.276G>C	c.(274-276)gcG>gcC	p.A92A	NXNL2_ENST00000375855.3_Silent_p.A92A|NXNL2_ENST00000487646.2_3'UTR	NM_001161625.1	NP_001155097.1	Q5VZ03	NXNL2_HUMAN	nucleoredoxin-like 2	92	Thioredoxin.				photoreceptor cell maintenance (GO:0045494)|sensory perception of smell (GO:0007608)|visual perception (GO:0007601)			p.A92A(2)		lung(3)	3						CCTGGCTGGCGCTGCCCTTCC	0.731																																						uc011ltj.1																			2	Substitution - coding silent(2)		lung(2)		0						c.(274-276)GCG>GCC		nucleoredoxin-like 2 isoform 1							17.0	21.0	19.0					9																	91150625		2054	4140	6194	SO:0001819	synonymous_variant	158046							g.chr9:91150625G>C	BC022521	CCDS6679.1, CCDS55325.1	9q22.2	2008-02-05	2007-08-16	2007-08-16	ENSG00000130045	ENSG00000130045			30482	protein-coding gene	gene with protein product		615299	"""chromosome 9 open reading frame 121"""	C9orf121		12477932	Standard	NM_001161625		Approved		uc011ltj.2	Q5VZ03	OTTHUMG00000020170	ENST00000375854.3:c.276G>C	9.37:g.91150625G>C						NXNL2_uc004aqa.2_Silent_p.A92A	p.A92A	NM_001161625	NP_001155097	Q5VZ03	NXNL2_HUMAN			1	610	+			92			Thioredoxin.		B1AMD0|Q8TBG6	Silent	SNP	ENST00000375854.3	37	c.276G>C	CCDS55325.1																																																																																				PASS	0.731	NXNL2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_145283		5	24	5	24	---	---	---	---
ROR2	4920	broad.mit.edu	37	9	94495406	94495406	+	Missense_Mutation	SNP	C	C	A	rs188376581	byFrequency	TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr9:94495406C>A	ENST00000375708.3	-	6	1133	c.935G>T	c.(934-936)cGc>cTc	p.R312L	ROR2_ENST00000375715.1_Missense_Mutation_p.R172L|ROR2_ENST00000550066.1_5'UTR	NM_004560.3	NP_004551.2	Q01974	ROR2_HUMAN	receptor tyrosine kinase-like orphan receptor 2	312					cartilage condensation (GO:0001502)|cell differentiation (GO:0030154)|embryonic genitalia morphogenesis (GO:0030538)|inner ear morphogenesis (GO:0042472)|JNK cascade (GO:0007254)|multicellular organismal development (GO:0007275)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell proliferation (GO:0008285)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell migration (GO:0030335)|positive regulation of transcription, DNA-templated (GO:0045893)|signal transduction (GO:0007165)|somitogenesis (GO:0001756)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|Wnt signaling pathway, calcium modulating pathway (GO:0007223)|Wnt signaling pathway, planar cell polarity pathway (GO:0060071)	clathrin-coated endocytic vesicle membrane (GO:0030669)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|Wnt-protein binding (GO:0017147)	p.R312L(1)		autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	71						GCACTCACAGCGGCCCAGCCT	0.687																																						uc004arj.1																			1	Substitution - Missense(1)		lung(1)	lung(8)|central_nervous_system(5)|ovary(3)|large_intestine(2)|stomach(1)|breast(1)	20						c.(934-936)CGC>CTC		receptor tyrosine kinase-like orphan receptor 2							5.0	6.0	6.0					9																	94495406		1938	3875	5813	SO:0001583	missense	4920				negative regulation of cell proliferation|positive regulation of cell migration|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity|Wnt-protein binding	g.chr9:94495406C>A	M97639	CCDS6691.1	9q22	2013-01-11			ENSG00000169071	ENSG00000169071		"""Immunoglobulin superfamily / I-set domain containing"""	10257	protein-coding gene	gene with protein product		602337		NTRKR2, BDB, BDB1		1334494, 10700182	Standard	NM_004560		Approved		uc004arj.2	Q01974	OTTHUMG00000020211	ENST00000375708.3:c.935G>T	9.37:g.94495406C>A	ENSP00000364860:p.Arg312Leu					ROR2_uc004ari.1_Missense_Mutation_p.R172L|ROR2_uc004ark.2_Missense_Mutation_p.R312L	p.R312L	NM_004560	NP_004551	Q01974	ROR2_HUMAN			6	1134	-			312			Extracellular (Potential).		Q59GF5|Q5SPI5|Q9HAY7|Q9HB61	Missense_Mutation	SNP	ENST00000375708.3	37	c.935G>T	CCDS6691.1	.	.	.	.	.	.	.	.	.	.	C	14.18	2.459263	0.43634	.	.	ENSG00000169071	ENST00000375715;ENST00000375708	T;T	0.76839	-1.05;-1.02	4.44	3.54	0.40534	Kringle (1);Kringle-like fold (1);	0.000000	0.40222	N	0.001159	T	0.64216	0.2578	N	0.19112	0.55	0.50632	D	0.999886	B;B;B	0.28350	0.198;0.208;0.143	B;B;B	0.27608	0.081;0.048;0.049	T	0.64558	-0.6379	10	0.62326	D	0.03	.	12.4656	0.55757	0.0:0.9192:0.0:0.0808	.	312;312;172	A1L4F5;Q01974;B1APY4	.;ROR2_HUMAN;.	L	172;312	ENSP00000364867:R172L;ENSP00000364860:R312L	ENSP00000364860:R312L	R	-	2	0	ROR2	93535227	1.000000	0.71417	1.000000	0.80357	0.767000	0.43475	2.971000	0.49248	1.097000	0.41459	-0.258000	0.10820	CGC		PASS	0.687	ROR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053040.1			3	4	3	4	---	---	---	---
CENPP	401541	broad.mit.edu	37	9	95099822	95099822	+	Splice_Site	SNP	G	G	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr9:95099822G>T	ENST00000375587.3	+	3	804		c.e3-1			NM_001012267.1	NP_001012267.1	Q6IPU0	CENPP_HUMAN	centromere protein P						CENP-A containing nucleosome assembly (GO:0034080)|mitotic cell cycle (GO:0000278)|nucleosome assembly (GO:0006334)	chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)		p.?(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|skin(1)	16						CTGCTTTACAGGTATTAGAAA	0.289																																						uc004arz.2																			1	Unknown(1)		lung(1)	ovary(2)	2						c.e3-1		centromere protein P							81.0	88.0	85.0					9																	95099822		2202	4300	6502	SO:0001630	splice_region_variant	401541				CenH3-containing nucleosome assembly at centromere|mitotic prometaphase	chromosome, centromeric region|cytosol|nucleoplasm		g.chr9:95099822G>T	AK091247	CCDS35063.1, CCDS69618.1	9q22.31	2013-11-05			ENSG00000188312	ENSG00000188312			32933	protein-coding gene	gene with protein product		611505				16622419, 16622420	Standard	NM_001286969		Approved	RP11-19J3.3, CENP-P	uc004arz.3	Q6IPU0	OTTHUMG00000020228	ENST00000375587.3:c.290-1G>T	9.37:g.95099822G>T						CENPP_uc010mqx.2_Splice_Site|CENPP_uc004ary.1_Splice_Site_p.S97_splice	p.S97_splice	NM_001012267	NP_001012267	Q6IPU0	CENPP_HUMAN			3	830	+								B3KRA5|B3KS17|Q5T9F8|Q5T9F9	Splice_Site	SNP	ENST00000375587.3	37	c.290_splice	CCDS35063.1	.	.	.	.	.	.	.	.	.	.	G	18.09	3.546444	0.65198	.	.	ENSG00000188312	ENST00000375587;ENST00000402724	.	.	.	5.1	5.1	0.69264	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.2844	0.82712	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	CENPP	94139643	0.995000	0.38212	0.981000	0.43875	0.887000	0.51463	4.962000	0.63687	2.761000	0.94854	0.650000	0.86243	.		PASS	0.289	CENPP-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053098.1	NM_001012267	Intron	41	122	41	122	---	---	---	---
CDC14B	8555	broad.mit.edu	37	9	99285911	99285911	+	Missense_Mutation	SNP	C	C	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr9:99285911C>T	ENST00000375241.1	-	10	1494	c.1043G>A	c.(1042-1044)aGa>aAa	p.R348K	CDC14B_ENST00000265659.2_Missense_Mutation_p.R348K|CDC14B_ENST00000463569.1_Missense_Mutation_p.R348K|CDC14B_ENST00000375240.3_Missense_Mutation_p.R348K|CDC14B_ENST00000375236.1_Missense_Mutation_p.R348K|CDC14B_ENST00000375242.3_Missense_Mutation_p.R311K|CDC14B_ENST00000481149.1_5'Flank	NM_003671.3|NM_033331.2	NP_003662.1|NP_201588.1	O60729	CC14B_HUMAN	cell division cycle 14B	348	B.				activation of anaphase-promoting complex activity (GO:0051488)|DNA repair (GO:0006281)|G2 DNA damage checkpoint (GO:0031572)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	nuclear membrane (GO:0031965)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.R348K(2)		endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(5)|ovary(1)|prostate(1)	15		Acute lymphoblastic leukemia(62;0.0559)				CGAGCCAGGTCTGCAGATCCT	0.542																																						uc004awj.2																			2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(1042-1044)AGA>AAA		CDC14 homolog B isoform 2							87.0	76.0	80.0					9																	99285911		2203	4300	6503	SO:0001583	missense	8555				activation of anaphase-promoting complex activity|DNA repair|G2/M transition DNA damage checkpoint	nucleolus|nucleoplasm	protein binding|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr9:99285911C>T	AF023158	CCDS6721.1, CCDS6722.1, CCDS43853.1	9q22.3	2013-01-17	2013-01-17		ENSG00000081377	ENSG00000081377		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : CDC14s"""	1719	protein-coding gene	gene with protein product		603505	"""CDC14 (cell division cycle 14, S. cerevisiae) homolog B"", ""CDC14 cell division cycle 14 homolog B (S. cerevisiae)"""			9367992	Standard	NM_003671		Approved	Cdc14B1, Cdc14B2, CDC14B3, hCDC14B	uc004awj.3	O60729	OTTHUMG00000020300	ENST00000375241.1:c.1043G>A	9.37:g.99285911C>T	ENSP00000364389:p.Arg348Lys					CDC14B_uc004awk.2_Missense_Mutation_p.R348K|CDC14B_uc004awl.2_RNA|CDC14B_uc004awi.2_Missense_Mutation_p.R311K	p.R348K	NM_033331	NP_201588	O60729	CC14B_HUMAN			10	1495	-		Acute lymphoblastic leukemia(62;0.0559)	348			B.		A6N5X8|A8MQ20|B1AL31|B1AL32|O43183|O60730|Q5JU08	Missense_Mutation	SNP	ENST00000375241.1	37	c.1043G>A	CCDS6722.1	.	.	.	.	.	.	.	.	.	.	C	34	5.344911	0.95807	.	.	ENSG00000081377	ENST00000265659;ENST00000375241;ENST00000375240;ENST00000375242;ENST00000463569;ENST00000375236	T;T;T;T;T;T	0.58797	0.31;0.31;0.31;0.31;0.31;0.31	5.2	5.2	0.72013	Dual specificity phosphatase, catalytic domain (1);Protein-tyrosine/Dual-specificity phosphatase (1);Dual specificity phosphatase, subgroup, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.85779	0.5776	H	0.98048	4.135	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.90590	0.4536	10	0.87932	D	0	-8.6306	19.2944	0.94117	0.0:1.0:0.0:0.0	.	348;348;311	O60729-2;O60729;A8MQ20	.;CC14B_HUMAN;.	K	348;348;348;311;348;348	ENSP00000265659:R348K;ENSP00000364389:R348K;ENSP00000364388:R348K;ENSP00000364390:R311K;ENSP00000420572:R348K;ENSP00000364384:R348K	ENSP00000265659:R348K	R	-	2	0	CDC14B	98325732	1.000000	0.71417	0.527000	0.27925	0.984000	0.73092	7.609000	0.82925	2.868000	0.98415	0.555000	0.69702	AGA		PASS	0.542	CDC14B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053278.2	NM_033331		26	109	26	109	---	---	---	---
HEMGN	55363	broad.mit.edu	37	9	100692380	100692380	+	Missense_Mutation	SNP	G	G	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr9:100692380G>T	ENST00000259456.3	-	4	1440	c.1297C>A	c.(1297-1299)Ccc>Acc	p.P433T		NM_018437.3|NM_197978.2	NP_060907.2|NP_932095.1	Q9BXL5	HEMGN_HUMAN	hemogen	433					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)	nucleus (GO:0005634)		p.P433T(1)		NS(1)|kidney(2)|large_intestine(5)|lung(15)|ovary(1)|skin(2)|urinary_tract(1)	27		Acute lymphoblastic leukemia(62;0.0559)				TGGCCTTGGGGCCCACCTGTT	0.463																																						uc004axy.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1297-1299)CCC>ACC		hemogen							252.0	234.0	240.0					9																	100692380		2203	4300	6503	SO:0001583	missense	55363				cell differentiation|multicellular organismal development			g.chr9:100692380G>T	AF228713	CCDS6731.1	9q22.33	2014-01-21			ENSG00000136929	ENSG00000136929			17509	protein-coding gene	gene with protein product		610715					Standard	NM_018437		Approved	EDAG, CT155, NDR	uc004axy.4	Q9BXL5	OTTHUMG00000020336	ENST00000259456.3:c.1297C>A	9.37:g.100692380G>T	ENSP00000259456:p.Pro433Thr					HEMGN_uc004axz.2_Missense_Mutation_p.P433T	p.P433T	NM_197978	NP_932095	Q9BXL5	HEMGN_HUMAN			3	1405	-		Acute lymphoblastic leukemia(62;0.0559)	433					Q6XAR3|Q86XY5|Q9NPC0	Missense_Mutation	SNP	ENST00000259456.3	37	c.1297C>A	CCDS6731.1	.	.	.	.	.	.	.	.	.	.	G	9.921	1.212062	0.22289	.	.	ENSG00000136929	ENST00000375112;ENST00000259456	.	.	.	4.87	1.92	0.25849	.	0.762404	0.11619	N	0.545997	T	0.34629	0.0904	L	0.59436	1.845	0.09310	N	1	B	0.27882	0.192	B	0.25759	0.063	T	0.38672	-0.9650	9	0.72032	D	0.01	0.0275	3.2336	0.06757	0.0963:0.182:0.5476:0.1742	.	433	Q9BXL5	HEMGN_HUMAN	T	433	.	ENSP00000259456:P433T	P	-	1	0	HEMGN	99732201	0.034000	0.19679	0.110000	0.21437	0.472000	0.32918	0.547000	0.23299	0.325000	0.23359	0.655000	0.94253	CCC		PASS	0.463	HEMGN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053344.2	NM_197978		71	279	71	279	---	---	---	---
COL15A1	1306	broad.mit.edu	37	9	101747923	101747923	+	Silent	SNP	A	A	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr9:101747923A>T	ENST00000375001.3	+	3	600	c.177A>T	c.(175-177)acA>acT	p.T59T		NM_001855.3	NP_001846.3	P39059	COFA1_HUMAN	collagen, type XV, alpha 1	59					angiogenesis (GO:0001525)|cell adhesion (GO:0007155)|cell differentiation (GO:0030154)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|signal transduction (GO:0007165)	collagen type XV trimer (GO:0005582)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	extracellular matrix structural constituent (GO:0005201)	p.T59T(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(20)|liver(1)|lung(42)|ovary(6)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	107		Acute lymphoblastic leukemia(62;0.0562)				CCTTTGTCACAGGCTATGGTG	0.622																																						uc004azb.1																			1	Substitution - coding silent(1)		lung(1)	ovary(6)	6						c.(175-177)ACA>ACT		alpha 1 type XV collagen precursor							67.0	63.0	64.0					9																	101747923		2203	4300	6503	SO:0001819	synonymous_variant	1306				angiogenesis|cell differentiation|signal transduction	collagen type XV|extracellular space|integral to membrane	binding	g.chr9:101747923A>T	L25286	CCDS35081.1	9q21-q22	2013-01-16			ENSG00000204291	ENSG00000204291		"""Proteoglycans / Extracellular Matrix : Collagen proteoglycans"", ""Collagens"""	2192	protein-coding gene	gene with protein product	"""collagen type XV proteoglycan"""	120325				1427836	Standard	NM_001855		Approved		uc004azb.2	P39059	OTTHUMG00000020351	ENST00000375001.3:c.177A>T	9.37:g.101747923A>T						COL15A1_uc004aza.2_Silent_p.T59T	p.T59T	NM_001855	NP_001846	P39059	COFA1_HUMAN			3	383	+		Acute lymphoblastic leukemia(62;0.0562)	59			TSP N-terminal.		Q5T6J4|Q9UDC5|Q9Y4W4	Silent	SNP	ENST00000375001.3	37	c.177A>T	CCDS35081.1																																																																																				PASS	0.622	COL15A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053386.3	NM_001855		21	24	21	24	---	---	---	---
COL15A1	1306	broad.mit.edu	37	9	101777769	101777769	+	Missense_Mutation	SNP	A	A	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr9:101777769A>T	ENST00000375001.3	+	10	1847	c.1424A>T	c.(1423-1425)gAt>gTt	p.D475V		NM_001855.3	NP_001846.3	P39059	COFA1_HUMAN	collagen, type XV, alpha 1	475	4 X tandem repeats.|Nonhelical region 1 (NC1).				angiogenesis (GO:0001525)|cell adhesion (GO:0007155)|cell differentiation (GO:0030154)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|signal transduction (GO:0007165)	collagen type XV trimer (GO:0005582)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	extracellular matrix structural constituent (GO:0005201)	p.D475V(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(20)|liver(1)|lung(42)|ovary(6)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	107		Acute lymphoblastic leukemia(62;0.0562)				ACTTTTGAGGATGAGGAAGCC	0.547																																						uc004azb.1																			1	Substitution - Missense(1)		lung(1)	ovary(6)	6						c.(1423-1425)GAT>GTT		alpha 1 type XV collagen precursor							70.0	65.0	67.0					9																	101777769		2203	4300	6503	SO:0001583	missense	1306				angiogenesis|cell differentiation|signal transduction	collagen type XV|extracellular space|integral to membrane	binding	g.chr9:101777769A>T	L25286	CCDS35081.1	9q21-q22	2013-01-16			ENSG00000204291	ENSG00000204291		"""Proteoglycans / Extracellular Matrix : Collagen proteoglycans"", ""Collagens"""	2192	protein-coding gene	gene with protein product	"""collagen type XV proteoglycan"""	120325				1427836	Standard	NM_001855		Approved		uc004azb.2	P39059	OTTHUMG00000020351	ENST00000375001.3:c.1424A>T	9.37:g.101777769A>T	ENSP00000364140:p.Asp475Val						p.D475V	NM_001855	NP_001846	P39059	COFA1_HUMAN			10	1630	+		Acute lymphoblastic leukemia(62;0.0562)	475			3.|Nonhelical region 1 (NC1).|4 X tandem repeats.		Q5T6J4|Q9UDC5|Q9Y4W4	Missense_Mutation	SNP	ENST00000375001.3	37	c.1424A>T	CCDS35081.1	.	.	.	.	.	.	.	.	.	.	A	10.42	1.346666	0.24426	.	.	ENSG00000204291	ENST00000375001;ENST00000536083	D	0.89681	-2.55	3.65	2.39	0.29439	.	3.170750	0.01475	N	0.016427	T	0.80544	0.4643	N	0.22421	0.69	0.20074	N	0.999934	B	0.34214	0.442	B	0.26969	0.075	T	0.69895	-0.5021	10	0.31617	T	0.26	-10.5293	5.797	0.18392	0.6853:0.0:0.0:0.3147	.	475	P39059	COFA1_HUMAN	V	475;445	ENSP00000364140:D475V	ENSP00000364140:D475V	D	+	2	0	COL15A1	100817590	0.998000	0.40836	0.167000	0.22817	0.705000	0.40729	3.386000	0.52492	0.643000	0.30638	0.454000	0.30748	GAT		PASS	0.547	COL15A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053386.3	NM_001855		28	30	28	30	---	---	---	---
COL15A1	1306	broad.mit.edu	37	9	101829241	101829241	+	Silent	SNP	T	T	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr9:101829241T>A	ENST00000375001.3	+	40	4152	c.3729T>A	c.(3727-3729)gcT>gcA	p.A1243A		NM_001855.3	NP_001846.3	P39059	COFA1_HUMAN	collagen, type XV, alpha 1	1243	Nonhelical region 10 (NC10).				angiogenesis (GO:0001525)|cell adhesion (GO:0007155)|cell differentiation (GO:0030154)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|signal transduction (GO:0007165)	collagen type XV trimer (GO:0005582)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	extracellular matrix structural constituent (GO:0005201)	p.A1243A(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(20)|liver(1)|lung(42)|ovary(6)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	107		Acute lymphoblastic leukemia(62;0.0562)				AGGCCAGAGCTGCAGGACTGT	0.473																																						uc004azb.1																			1	Substitution - coding silent(1)		lung(1)	ovary(6)	6						c.(3727-3729)GCT>GCA		alpha 1 type XV collagen precursor							160.0	138.0	146.0					9																	101829241		2203	4300	6503	SO:0001819	synonymous_variant	1306				angiogenesis|cell differentiation|signal transduction	collagen type XV|extracellular space|integral to membrane	binding	g.chr9:101829241T>A	L25286	CCDS35081.1	9q21-q22	2013-01-16			ENSG00000204291	ENSG00000204291		"""Proteoglycans / Extracellular Matrix : Collagen proteoglycans"", ""Collagens"""	2192	protein-coding gene	gene with protein product	"""collagen type XV proteoglycan"""	120325				1427836	Standard	NM_001855		Approved		uc004azb.2	P39059	OTTHUMG00000020351	ENST00000375001.3:c.3729T>A	9.37:g.101829241T>A							p.A1243A	NM_001855	NP_001846	P39059	COFA1_HUMAN			40	3935	+		Acute lymphoblastic leukemia(62;0.0562)	1243			Nonhelical region 10 (NC10).		Q5T6J4|Q9UDC5|Q9Y4W4	Silent	SNP	ENST00000375001.3	37	c.3729T>A	CCDS35081.1																																																																																				PASS	0.473	COL15A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053386.3	NM_001855		65	83	65	83	---	---	---	---
NR4A3	8013	broad.mit.edu	37	9	102609735	102609735	+	Missense_Mutation	SNP	G	G	C			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr9:102609735G>C	ENST00000395097.2	+	7	2200	c.1471G>C	c.(1471-1473)Gat>Cat	p.D491H	NR4A3_ENST00000330847.1_Missense_Mutation_p.D502H	NM_006981.3|NM_173200.2	NP_008912.2|NP_775292.1	Q92570	NR4A3_HUMAN	nuclear receptor subfamily 4, group A, member 3	491					gene expression (GO:0010467)|intracellular receptor signaling pathway (GO:0030522)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|steroid hormone receptor activity (GO:0003707)|thyroid hormone receptor activity (GO:0004887)|zinc ion binding (GO:0008270)	p.D502H(1)	TCF12/NR4A3(2)|TAF15/NR4A3(33)|EWSR1/NR4A3(146)|TFG/NR4A3(2)				Acute lymphoblastic leukemia(62;0.0559)|all_hematologic(171;0.189)				CACTGCTGAAGATAAGTTTGT	0.428			T	EWSR1	extraskeletal myxoid chondrosarcoma																																	uc004baf.1				Dom	yes		9	9q22	8013	T	"""nuclear receptor subfamily 4, group A, member 3 (NOR1)"""			M	EWSR1		extraskeletal myxoid chondrosarcoma	EWSR1/NR4A3(140)|TAF15/NR4A3(33)	1	Substitution - Missense(1)		lung(1)	bone(173)	173						c.(1471-1473)GAT>CAT		nuclear receptor subfamily 4, group A, member 3							215.0	189.0	198.0					9																	102609735		2203	4300	6503	SO:0001583	missense	8013				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor		steroid hormone receptor activity|thyroid hormone receptor activity|zinc ion binding	g.chr9:102609735G>C	U12767	CCDS6742.1, CCDS6743.1, CCDS6744.1	9q22	2013-01-16			ENSG00000119508	ENSG00000119508		"""Nuclear hormone receptors"""	7982	protein-coding gene	gene with protein product		600542				8614405	Standard	NM_006981		Approved	CSMF, CHN, NOR1, MINOR	uc004baf.1	Q92570	OTTHUMG00000021030	ENST00000395097.2:c.1471G>C	9.37:g.102609735G>C	ENSP00000378531:p.Asp491His					NR4A3_uc004bag.1_Missense_Mutation_p.D491H|NR4A3_uc004bai.2_Missense_Mutation_p.D502H	p.D491H	NM_006981	NP_008912	Q92570	NR4A3_HUMAN			7	2200	+		Acute lymphoblastic leukemia(62;0.0559)|all_hematologic(171;0.189)	491					A2A3I7|Q12935|Q14979|Q16420|Q4VXA8|Q4VXA9|Q9UEK2|Q9UEK3	Missense_Mutation	SNP	ENST00000395097.2	37	c.1471G>C	CCDS6743.1	.	.	.	.	.	.	.	.	.	.	G	31	5.076771	0.94000	.	.	ENSG00000119508	ENST00000395097;ENST00000330847	T;T	0.57595	0.39;0.39	6.17	6.17	0.99709	Nuclear hormone receptor, ligand-binding (2);Nuclear hormone receptor, ligand-binding, core (2);	0.146062	0.64402	D	0.000009	T	0.75532	0.3862	M	0.79258	2.445	0.80722	D	1	D;D	0.89917	1.0;0.997	D;D	0.73380	0.98;0.968	T	0.75542	-0.3281	10	0.72032	D	0.01	.	20.8794	0.99867	0.0:0.0:1.0:0.0	.	502;491	Q92570-3;Q92570	.;NR4A3_HUMAN	H	491;502	ENSP00000378531:D491H;ENSP00000333122:D502H	ENSP00000333122:D502H	D	+	1	0	NR4A3	101649556	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.476000	0.97823	2.941000	0.99782	0.655000	0.94253	GAT		PASS	0.428	NR4A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055482.1			68	122	68	122	---	---	---	---
GRIN3A	116443	broad.mit.edu	37	9	104432717	104432717	+	Silent	SNP	G	G	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr9:104432717G>A	ENST00000361820.3	-	3	2577	c.1977C>T	c.(1975-1977)acC>acT	p.T659T		NM_133445.2	NP_597702.2	Q8TCU5	NMD3A_HUMAN	glutamate receptor, ionotropic, N-methyl-D-aspartate 3A	659					calcium ion transport (GO:0006816)|dendrite development (GO:0016358)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|prepulse inhibition (GO:0060134)|response to ethanol (GO:0045471)|rhythmic process (GO:0048511)|synaptic transmission, glutamatergic (GO:0035249)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	calcium channel activity (GO:0005262)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glycine binding (GO:0016594)|identical protein binding (GO:0042802)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)|neurotransmitter binding (GO:0042165)|protein phosphatase 2A binding (GO:0051721)	p.T659T(1)		breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(44)|ovary(4)|pancreas(1)|skin(7)|upper_aerodigestive_tract(1)	80		Acute lymphoblastic leukemia(62;0.0568)			Acamprosate(DB00659)|Acetylcysteine(DB06151)|Amantadine(DB00915)|Atomoxetine(DB00289)|Chloroprocaine(DB01161)|Dextromethorphan(DB00514)|Ethanol(DB00898)|Ethopropazine(DB00392)|Felbamate(DB00949)|Gabapentin(DB00996)|Halothane(DB01159)|Ketamine(DB01221)|Ketobemidone(DB06738)|Memantine(DB01043)|Methadone(DB00333)|Milnacipran(DB04896)|Orphenadrine(DB01173)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Procaine(DB00721)|Secobarbital(DB00418)|Tramadol(DB00193)	CTGTATCTCGGGTCCTCACTA	0.527																																						uc004bbp.1																			1	Substitution - coding silent(1)	p.T659N(1)	lung(1)	ovary(4)|pancreas(1)|central_nervous_system(1)|skin(1)	7						c.(1975-1977)ACC>ACT		glutamate receptor, ionotropic,	Acamprosate(DB00659)|Chloroprocaine(DB01161)|Dextromethorphan(DB00514)|Ethanol(DB00898)|Ethopropazine(DB00392)|Felbamate(DB00949)|Ketamine(DB01221)|L-Glutamic Acid(DB00142)|Memantine(DB01043)|Meperidine(DB00454)|Methadone(DB00333)|Orphenadrine(DB01173)|Procaine(DB00721)|Riluzole(DB00740)						73.0	78.0	76.0					9																	104432717		2203	4300	6503	SO:0001819	synonymous_variant	116443				response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|neuron projection|neuronal cell body|outer membrane-bounded periplasmic space|postsynaptic density|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|glycine binding|identical protein binding|N-methyl-D-aspartate selective glutamate receptor activity|protein phosphatase 2A binding	g.chr9:104432717G>A		CCDS6758.1	9q31.1	2012-08-29			ENSG00000198785	ENSG00000198785		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	16767	protein-coding gene	gene with protein product		606650					Standard	NM_133445		Approved	GluN3A	uc004bbp.2	Q8TCU5	OTTHUMG00000020387	ENST00000361820.3:c.1977C>T	9.37:g.104432717G>A						GRIN3A_uc004bbq.1_Silent_p.T659T	p.T659T	NM_133445	NP_597702	Q8TCU5	NMD3A_HUMAN			3	2578	-		Acute lymphoblastic leukemia(62;0.0568)	659			Extracellular (Potential).		B3DLF9|Q5VTR3|Q8TF29|Q8WXI6	Silent	SNP	ENST00000361820.3	37	c.1977C>T	CCDS6758.1																																																																																				PASS	0.527	GRIN3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053453.1			58	74	58	74	---	---	---	---
CYLC2	1539	broad.mit.edu	37	9	105767109	105767109	+	Missense_Mutation	SNP	G	G	T	rs143843968		TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr9:105767109G>T	ENST00000374798.3	+	4	383	c.313G>T	c.(313-315)Gtc>Ttc	p.V105F	CYLC2_ENST00000487798.1_Missense_Mutation_p.V105F	NM_001340.3	NP_001331.1	Q14093	CYLC2_HUMAN	cylicin, basic protein of sperm head cytoskeleton 2	105	31 X 3 AA repeats of K-K-X.				cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	structural constituent of cytoskeleton (GO:0005200)	p.V105F(1)		NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(14)|ovary(1)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)	41		all_hematologic(171;0.125)				AACTCGTACTGTCGAGGTGGA	0.363																																						uc004bbs.2																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(313-315)GTC>TTC		cylicin 2							59.0	59.0	59.0					9																	105767109		2203	4300	6503	SO:0001583	missense	1539				cell differentiation|multicellular organismal development|spermatogenesis	cytoskeletal calyx	structural constituent of cytoskeleton	g.chr9:105767109G>T	Z46788	CCDS35085.1	9q31.2	2008-07-21			ENSG00000155833	ENSG00000155833			2583	protein-coding gene	gene with protein product		604035				7737358	Standard	NM_001340		Approved		uc004bbs.2	Q14093	OTTHUMG00000020396	ENST00000374798.3:c.313G>T	9.37:g.105767109G>T	ENSP00000420256:p.Val105Phe						p.V105F	NM_001340	NP_001331	Q14093	CYLC2_HUMAN			4	383	+		all_hematologic(171;0.125)	105			31 X 3 AA repeats of K-K-X.		B2R8F4|Q5VVJ9	Missense_Mutation	SNP	ENST00000374798.3	37	c.313G>T	CCDS35085.1	.	.	.	.	.	.	.	.	.	.	G	0.005	-2.156353	0.00325	.	.	ENSG00000155833	ENST00000374798;ENST00000487798	T;T	0.15372	2.43;2.43	3.28	-6.55	0.01854	.	4.193170	0.00827	N	0.001624	T	0.06188	0.0160	N	0.02539	-0.55	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.26608	-1.0098	10	0.46703	T	0.11	5.7588	2.4742	0.04572	0.1692:0.1053:0.3572:0.3682	.	105	Q14093	CYLC2_HUMAN	F	105	ENSP00000420256:V105F;ENSP00000417674:V105F	ENSP00000420256:V105F	V	+	1	0	CYLC2	104806930	.	.	0.000000	0.03702	0.000000	0.00434	.	.	-4.922000	0.00027	-1.255000	0.01485	GTC		PASS	0.363	CYLC2-001	KNOWN	alternative_3_UTR|NMD_exception|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000053463.3	NM_001340		34	47	34	47	---	---	---	---
OR13F1	138805	broad.mit.edu	37	9	107266977	107266977	+	Missense_Mutation	SNP	C	C	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr9:107266977C>A	ENST00000334726.2	+	1	523	c.434C>A	c.(433-435)gCa>gAa	p.A145E		NM_001004485.1	NP_001004485.1	Q8NGS4	O13F1_HUMAN	olfactory receptor, family 13, subfamily F, member 1	145						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.A145E(1)		endometrium(3)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	31						GTGCAGATTGCAGCTGGCTCC	0.507																																						uc011lvm.1																			1	Substitution - Missense(1)		lung(1)	large_intestine(1)|ovary(1)|skin(1)	3						c.(433-435)GCA>GAA		olfactory receptor, family 13, subfamily F,							115.0	106.0	109.0					9																	107266977		2203	4300	6503	SO:0001583	missense	138805				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr9:107266977C>A		CCDS35087.1	9q31.1	2013-09-24			ENSG00000186881	ENSG00000186881		"""GPCR / Class A : Olfactory receptors"""	14723	protein-coding gene	gene with protein product							Standard	NM_001004485		Approved		uc011lvm.2	Q8NGS4	OTTHUMG00000020404	ENST00000334726.2:c.434C>A	9.37:g.107266977C>A	ENSP00000334452:p.Ala145Glu						p.A145E	NM_001004485	NP_001004485	Q8NGS4	O13F1_HUMAN			1	434	+			145			Helical; Name=4; (Potential).		Q6IF50	Missense_Mutation	SNP	ENST00000334726.2	37	c.434C>A	CCDS35087.1	.	.	.	.	.	.	.	.	.	.	C	13.67	2.306616	0.40795	.	.	ENSG00000186881	ENST00000334726	T	0.38401	1.14	4.3	3.37	0.38596	GPCR, rhodopsin-like superfamily (1);	0.000000	0.50627	D	0.000106	T	0.66056	0.2751	H	0.96365	3.81	0.26639	N	0.972315	D	0.89917	1.0	D	0.80764	0.994	T	0.61525	-0.7045	10	0.87932	D	0	.	5.9195	0.19073	0.0:0.7015:0.1968:0.1017	.	145	Q8NGS4	O13F1_HUMAN	E	145	ENSP00000334452:A145E	ENSP00000334452:A145E	A	+	2	0	OR13F1	106306798	0.001000	0.12720	0.813000	0.32504	0.386000	0.30323	0.326000	0.19646	1.362000	0.46000	0.655000	0.94253	GCA		PASS	0.507	OR13F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053475.1			44	51	44	51	---	---	---	---
ABCA1	19	broad.mit.edu	37	9	107576438	107576438	+	Missense_Mutation	SNP	C	C	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr9:107576438C>A	ENST00000374736.3	-	27	4256	c.3862G>T	c.(3862-3864)Gat>Tat	p.D1288Y		NM_005502.3	NP_005493.2	O95477	ABCA1_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 1	1288					apolipoprotein A-I-mediated signaling pathway (GO:0038027)|cellular lipid metabolic process (GO:0044255)|cellular response to cholesterol (GO:0071397)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to retinoic acid (GO:0071300)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|endosomal transport (GO:0016197)|G-protein coupled receptor signaling pathway (GO:0007186)|high-density lipoprotein particle assembly (GO:0034380)|interleukin-1 beta secretion (GO:0050702)|intracellular cholesterol transport (GO:0032367)|lipoprotein metabolic process (GO:0042157)|lysosome organization (GO:0007040)|negative regulation of cholesterol storage (GO:0010887)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|peptide secretion (GO:0002790)|phagocytosis, engulfment (GO:0006911)|phospholipid efflux (GO:0033700)|phospholipid homeostasis (GO:0055091)|phospholipid translocation (GO:0045332)|platelet dense granule organization (GO:0060155)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of cholesterol efflux (GO:0010875)|protein lipidation (GO:0006497)|regulation of Cdc42 protein signal transduction (GO:0032489)|response to drug (GO:0042493)|response to laminar fluid shear stress (GO:0034616)|response to low-density lipoprotein particle (GO:0055098)|response to nutrient (GO:0007584)|reverse cholesterol transport (GO:0043691)|small molecule metabolic process (GO:0044281)	endocytic vesicle (GO:0030139)|external side of plasma membrane (GO:0009897)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|perinuclear region of cytoplasm (GO:0048471)|phagocytic vesicle (GO:0045335)|plasma membrane (GO:0005886)	anion transmembrane transporter activity (GO:0008509)|apolipoprotein A-I binding (GO:0034186)|apolipoprotein A-I receptor activity (GO:0034188)|apolipoprotein binding (GO:0034185)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|ATPase binding (GO:0051117)|cholesterol binding (GO:0015485)|cholesterol transporter activity (GO:0017127)|phospholipid binding (GO:0005543)|phospholipid transporter activity (GO:0005548)|receptor binding (GO:0005102)|small GTPase binding (GO:0031267)|syntaxin binding (GO:0019905)	p.D1288Y(1)		NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(31)|liver(1)|lung(40)|ovary(5)|pancreas(2)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	115				OV - Ovarian serous cystadenocarcinoma(323;0.023)	Adenosine triphosphate(DB00171)|Glyburide(DB01016)|Probucol(DB01599)	GCAGCATCATCTTCAGTGAAC	0.488																																						uc004bcl.2																			1	Substitution - Missense(1)		lung(1)	large_intestine(4)|lung(4)|ovary(4)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)|skin(1)|pancreas(1)	17						c.(3862-3864)GAT>TAT		ATP-binding cassette, sub-family A member 1	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)						116.0	96.0	103.0					9																	107576438		2203	4300	6503	SO:0001583	missense	19				Cdc42 protein signal transduction|cellular lipid metabolic process|cholesterol efflux|cholesterol homeostasis|cholesterol metabolic process|endosome transport|G-protein coupled receptor protein signaling pathway|high-density lipoprotein particle assembly|interleukin-1 beta secretion|intracellular cholesterol transport|lysosome organization|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|phospholipid efflux|phospholipid homeostasis|platelet dense granule organization|positive regulation of cAMP biosynthetic process|reverse cholesterol transport	integral to plasma membrane|membrane fraction|membrane raft|phagocytic vesicle	anion transmembrane transporter activity|apolipoprotein A-I receptor activity|ATP binding|ATPase activity|cholesterol transporter activity|phospholipid transporter activity|small GTPase binding|syntaxin-13 binding	g.chr9:107576438C>A	AJ012376	CCDS6762.1	9q31	2014-03-14			ENSG00000165029	ENSG00000165029		"""ATP binding cassette transporters / subfamily A"""	29	protein-coding gene	gene with protein product	"""Tangier disease"""	600046		ABC1, HDLDT1		8088782, 10431236, 10431237, 10431238	Standard	NM_005502		Approved	TGD	uc004bcl.3	O95477	OTTHUMG00000020417	ENST00000374736.3:c.3862G>T	9.37:g.107576438C>A	ENSP00000363868:p.Asp1288Tyr						p.D1288Y	NM_005502	NP_005493	O95477	ABCA1_HUMAN		OV - Ovarian serous cystadenocarcinoma(323;0.023)	27	4175	-			1288					Q5VX33|Q96S56|Q96T85|Q9NQV4|Q9UN06|Q9UN07|Q9UN08|Q9UN09	Missense_Mutation	SNP	ENST00000374736.3	37	c.3862G>T	CCDS6762.1	.	.	.	.	.	.	.	.	.	.	C	22.4	4.289112	0.80914	.	.	ENSG00000165029	ENST00000374736	D	0.86366	-2.11	5.39	5.39	0.77823	.	0.000000	0.85682	D	0.000000	D	0.89019	0.6596	L	0.51422	1.61	0.80722	D	1	P	0.52577	0.954	P	0.50617	0.646	D	0.90018	0.4126	10	0.72032	D	0.01	.	19.1494	0.93482	0.0:1.0:0.0:0.0	.	1288	O95477	ABCA1_HUMAN	Y	1288	ENSP00000363868:D1288Y	ENSP00000363868:D1288Y	D	-	1	0	ABCA1	106616259	1.000000	0.71417	0.994000	0.49952	0.464000	0.32679	7.463000	0.80869	2.548000	0.85928	0.455000	0.32223	GAT		PASS	0.488	ABCA1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053491.1	NM_005502		19	92	19	92	---	---	---	---
FRRS1L	23732	broad.mit.edu	37	9	111899755	111899755	+	Missense_Mutation	SNP	G	G	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr9:111899755G>T	ENST00000561981.2	-	5	1014	c.1015C>A	c.(1015-1017)Cta>Ata	p.L339I		NM_014334.2	NP_055149.2	Q9P0K9	FRS1L_HUMAN	ferric-chelate reductase 1-like	339						cell junction (GO:0030054)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|synapse (GO:0045202)		p.L339I(1)									CCCATCAATAGGTAGAAGGTC	0.373																																						uc004bdw.1																			1	Substitution - Missense(1)		lung(1)		0						c.(1015-1017)CTA>ATA		hypothetical protein LOC23732							100.0	98.0	99.0					9																	111899755		2203	4300	6503	SO:0001583	missense	23732					integral to membrane		g.chr9:111899755G>T	AF155065	CCDS35098.1	9q31.3	2014-07-16	2012-03-06	2012-03-06	ENSG00000260230	ENSG00000260230			1362	protein-coding gene	gene with protein product		604574	"""chromosome 9 open reading frame 4"""	C9orf4		10603000	Standard	NM_014334		Approved	CG-6	uc004bdw.1	Q9P0K9	OTTHUMG00000020468	ENST00000561981.2:c.1015C>A	9.37:g.111899755G>T	ENSP00000477141:p.Leu339Ile						p.L339I	NM_014334	NP_055149	Q9P0K9	CI004_HUMAN			5	1015	-			339			Helical; (Potential).		Q5T4G4	Missense_Mutation	SNP	ENST00000561981.2	37	c.1015C>A	CCDS35098.1	.	.	.	.	.	.	.	.	.	.	G	19.15	3.771468	0.69992	.	.	ENSG00000136805	ENST00000374581	.	.	.	6.04	0.832	0.18867	.	0.000000	0.85682	D	0.000000	T	0.47135	0.1429	N	0.08118	0	0.48185	D	0.9996	D	0.69078	0.997	D	0.72625	0.978	T	0.44390	-0.9331	9	0.51188	T	0.08	-3.5136	9.4641	0.38802	0.7028:0.0:0.2972:0.0	.	339	Q9P0K9	CI004_HUMAN	I	339	.	ENSP00000363709:L339I	L	-	1	2	C9orf4	110939576	1.000000	0.71417	0.988000	0.46212	0.983000	0.72400	1.304000	0.33482	-0.088000	0.12506	-0.253000	0.11424	CTA		PASS	0.373	FRRS1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053586.2	NM_014334		29	130	29	130	---	---	---	---
SVEP1	79987	broad.mit.edu	37	9	113170526	113170526	+	Missense_Mutation	SNP	C	C	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr9:113170526C>T	ENST00000401783.2	-	38	7690	c.7354G>A	c.(7354-7356)Gat>Aat	p.D2452N	SVEP1_ENST00000374469.1_Missense_Mutation_p.D2429N|SVEP1_ENST00000297826.5_Missense_Mutation_p.D378N	NM_153366.3	NP_699197.3	Q4LDE5	SVEP1_HUMAN	sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1	2452	Sushi 18. {ECO:0000255|PROSITE- ProRule:PRU00302}.				cell adhesion (GO:0007155)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|membrane (GO:0016020)	calcium ion binding (GO:0005509)|chromatin binding (GO:0003682)	p.D2455H(1)|p.D2455N(1)		NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						CCTTGCACATCAATGATTCCA	0.502																																						uc010mtz.2																			2	Substitution - Missense(2)		cervix(1)|lung(1)	ovary(7)	7						c.(7354-7356)GAT>AAT		polydom							62.0	60.0	61.0					9																	113170526		1934	4140	6074	SO:0001583	missense	79987				cell adhesion	cytoplasm|extracellular region|membrane	calcium ion binding	g.chr9:113170526C>T	AK027870		9q31-q32	2008-02-05	2005-03-15	2005-03-17	ENSG00000165124	ENSG00000165124			15985	protein-coding gene	gene with protein product		611691	"""chromosome 9 open reading frame 13"""	C9orf13			Standard	NM_153366		Approved	bA427L11.3, POLYDOM, FLJ13529	uc010mtz.3	Q4LDE5	OTTHUMG00000020482	ENST00000401783.2:c.7354G>A	9.37:g.113170526C>T	ENSP00000384917:p.Asp2452Asn					SVEP1_uc010mty.2_Missense_Mutation_p.D378N	p.D2452N	NM_153366	NP_699197	Q4LDE5	SVEP1_HUMAN			38	7691	-			2452			Sushi 18.		Q0P675|Q5D213|Q5T938|Q5VTE4|Q5VTE5|Q7Z387|Q7Z3G3|Q8NBT9|Q96JU7|Q9H284|Q9H8J9	Missense_Mutation	SNP	ENST00000401783.2	37	c.7354G>A	CCDS48004.1	.	.	.	.	.	.	.	.	.	.	C	14.82	2.649738	0.47362	.	.	ENSG00000165124	ENST00000401783;ENST00000374469;ENST00000297826;ENST00000374463	T;T;T	0.65364	-0.15;-0.15;-0.15	5.85	4.93	0.64822	Complement control module (2);Sushi/SCR/CCP (3);	0.043776	0.85682	D	0.000000	T	0.58337	0.2115	N	0.20881	0.62	0.80722	D	1	P	0.49090	0.919	P	0.51974	0.686	T	0.53443	-0.8438	10	0.15066	T	0.55	.	16.6234	0.84935	0.0:0.8656:0.1344:0.0	.	2452	Q4LDE5	SVEP1_HUMAN	N	2452;2429;378;124	ENSP00000384917:D2452N;ENSP00000363593:D2429N;ENSP00000297826:D378N	ENSP00000297826:D378N	D	-	1	0	SVEP1	112210347	1.000000	0.71417	0.677000	0.29947	0.302000	0.27658	5.949000	0.70257	1.436000	0.47453	0.655000	0.94253	GAT		PASS	0.502	SVEP1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				26	54	26	54	---	---	---	---
SVEP1	79987	broad.mit.edu	37	9	113192679	113192679	+	Missense_Mutation	SNP	C	C	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr9:113192679C>A	ENST00000401783.2	-	33	5741	c.5405G>T	c.(5404-5406)gGt>gTt	p.G1802V	SVEP1_ENST00000374469.1_Missense_Mutation_p.G1779V|SVEP1_ENST00000297826.5_5'Flank	NM_153366.3	NP_699197.3	Q4LDE5	SVEP1_HUMAN	sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1	1802	Sushi 7. {ECO:0000255|PROSITE- ProRule:PRU00302}.				cell adhesion (GO:0007155)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|membrane (GO:0016020)	calcium ion binding (GO:0005509)|chromatin binding (GO:0003682)	p.G1805V(1)		NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						ATAAATCTCACCTGAGGAGTG	0.428																																						uc010mtz.2																			1	Substitution - Missense(1)		lung(1)	ovary(7)	7						c.(5404-5406)GGT>GTT		polydom							57.0	52.0	53.0					9																	113192679		1858	4104	5962	SO:0001583	missense	79987				cell adhesion	cytoplasm|extracellular region|membrane	calcium ion binding	g.chr9:113192679C>A	AK027870		9q31-q32	2008-02-05	2005-03-15	2005-03-17	ENSG00000165124	ENSG00000165124			15985	protein-coding gene	gene with protein product		611691	"""chromosome 9 open reading frame 13"""	C9orf13			Standard	NM_153366		Approved	bA427L11.3, POLYDOM, FLJ13529	uc010mtz.3	Q4LDE5	OTTHUMG00000020482	ENST00000401783.2:c.5405G>T	9.37:g.113192679C>A	ENSP00000384917:p.Gly1802Val					SVEP1_uc010mty.2_5'Flank	p.G1802V	NM_153366	NP_699197	Q4LDE5	SVEP1_HUMAN			33	5742	-			1802			Sushi 7.		Q0P675|Q5D213|Q5T938|Q5VTE4|Q5VTE5|Q7Z387|Q7Z3G3|Q8NBT9|Q96JU7|Q9H284|Q9H8J9	Missense_Mutation	SNP	ENST00000401783.2	37	c.5405G>T	CCDS48004.1	.	.	.	.	.	.	.	.	.	.	C	16.50	3.140464	0.56936	.	.	ENSG00000165124	ENST00000401783;ENST00000374469	T;T	0.66638	-0.22;-0.22	5.18	5.18	0.71444	Complement control module (2);Sushi/SCR/CCP (3);	0.048675	0.85682	D	0.000000	T	0.79557	0.4466	M	0.63843	1.955	0.80722	D	1	D	0.69078	0.997	D	0.67103	0.949	T	0.78690	-0.2106	10	0.45353	T	0.12	.	18.8778	0.92345	0.0:1.0:0.0:0.0	.	1802	Q4LDE5	SVEP1_HUMAN	V	1802;1779	ENSP00000384917:G1802V;ENSP00000363593:G1779V	ENSP00000363593:G1779V	G	-	2	0	SVEP1	112232500	0.998000	0.40836	0.270000	0.24601	0.211000	0.24417	4.696000	0.61774	2.679000	0.91253	0.655000	0.94253	GGT		PASS	0.428	SVEP1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				15	32	15	32	---	---	---	---
SVEP1	79987	broad.mit.edu	37	9	113194802	113194802	+	Missense_Mutation	SNP	C	C	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr9:113194802C>A	ENST00000401783.2	-	31	5509	c.5173G>T	c.(5173-5175)Gac>Tac	p.D1725Y	SVEP1_ENST00000374469.1_Missense_Mutation_p.D1702Y	NM_153366.3	NP_699197.3	Q4LDE5	SVEP1_HUMAN	sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1	1725	Sushi 6. {ECO:0000255|PROSITE- ProRule:PRU00302}.				cell adhesion (GO:0007155)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|membrane (GO:0016020)	calcium ion binding (GO:0005509)|chromatin binding (GO:0003682)	p.D1728Y(1)		NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						ATCCTTGAGTCACCCAATAGA	0.463																																						uc010mtz.2																			1	Substitution - Missense(1)		lung(1)	ovary(7)	7						c.(5173-5175)GAC>TAC		polydom							140.0	138.0	138.0					9																	113194802		1966	4142	6108	SO:0001583	missense	79987				cell adhesion	cytoplasm|extracellular region|membrane	calcium ion binding	g.chr9:113194802C>A	AK027870		9q31-q32	2008-02-05	2005-03-15	2005-03-17	ENSG00000165124	ENSG00000165124			15985	protein-coding gene	gene with protein product		611691	"""chromosome 9 open reading frame 13"""	C9orf13			Standard	NM_153366		Approved	bA427L11.3, POLYDOM, FLJ13529	uc010mtz.3	Q4LDE5	OTTHUMG00000020482	ENST00000401783.2:c.5173G>T	9.37:g.113194802C>A	ENSP00000384917:p.Asp1725Tyr						p.D1725Y	NM_153366	NP_699197	Q4LDE5	SVEP1_HUMAN			31	5510	-			1725			Sushi 6.		Q0P675|Q5D213|Q5T938|Q5VTE4|Q5VTE5|Q7Z387|Q7Z3G3|Q8NBT9|Q96JU7|Q9H284|Q9H8J9	Missense_Mutation	SNP	ENST00000401783.2	37	c.5173G>T	CCDS48004.1	.	.	.	.	.	.	.	.	.	.	C	29.5	5.015646	0.93404	.	.	ENSG00000165124	ENST00000401783;ENST00000374469	T;T	0.65732	-0.17;-0.17	5.81	5.81	0.92471	Complement control module (2);Sushi/SCR/CCP (3);	0.047145	0.85682	D	0.000000	T	0.78336	0.4267	M	0.63169	1.94	0.80722	D	1	D	0.89917	1.0	D	0.79784	0.993	T	0.76550	-0.2918	10	0.48119	T	0.1	.	20.0826	0.97783	0.0:1.0:0.0:0.0	.	1725	Q4LDE5	SVEP1_HUMAN	Y	1725;1702	ENSP00000384917:D1725Y;ENSP00000363593:D1702Y	ENSP00000363593:D1702Y	D	-	1	0	SVEP1	112234623	1.000000	0.71417	1.000000	0.80357	0.931000	0.56810	7.486000	0.81215	2.746000	0.94184	0.655000	0.94253	GAC		PASS	0.463	SVEP1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				61	97	61	97	---	---	---	---
ZNF483	158399	broad.mit.edu	37	9	114289897	114289897	+	Nonsense_Mutation	SNP	G	G	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr9:114289897G>A	ENST00000309235.5	+	2	380	c.222G>A	c.(220-222)tgG>tgA	p.W74*	ZNF483_ENST00000374374.3_Nonsense_Mutation_p.W74*|ZNF483_ENST00000355824.3_Nonsense_Mutation_p.W74*|ZNF483_ENST00000358151.4_Nonsense_Mutation_p.W74*	NM_133464.2	NP_597721.2	Q8TF39	ZN483_HUMAN	zinc finger protein 483	74	SCAN box. {ECO:0000255|PROSITE- ProRule:PRU00187}.				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.W74*(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(11)|lung(11)|ovary(1)|skin(5)	31						GTCAACTCTGGGAGCTCTGCA	0.473																																						uc004bff.2																			1	Substitution - Nonsense(1)		lung(1)	skin(1)	1						c.(220-222)TGG>TGA		zinc finger protein 483 isoform a							97.0	105.0	103.0					9																	114289897		2203	4300	6503	SO:0001587	stop_gained	158399				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr9:114289897G>A	AB075842	CCDS35105.1, CCDS35106.1	9q32	2013-01-09			ENSG00000173258	ENSG00000173258		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	23384	protein-coding gene	gene with protein product							Standard	NM_001007169		Approved	ZKSCAN16, KIAA1962, ZSCAN48	uc004bff.2	Q8TF39	OTTHUMG00000020490	ENST00000309235.5:c.222G>A	9.37:g.114289897G>A	ENSP00000311679:p.Trp74*					ZNF483_uc011lwq.1_Nonsense_Mutation_p.W74*|ZNF483_uc004bfg.2_Nonsense_Mutation_p.W74*|ZNF483_uc010mud.1_Nonsense_Mutation_p.W74*	p.W74*	NM_133464	NP_597721	Q8TF39	ZN483_HUMAN			2	446	+			74			SCAN box.		Q5VZN2|Q8NAE1	Nonsense_Mutation	SNP	ENST00000309235.5	37	c.222G>A	CCDS35106.1	.	.	.	.	.	.	.	.	.	.	G	32	5.134364	0.94517	.	.	ENSG00000173258	ENST00000358151;ENST00000355824;ENST00000374374;ENST00000309235	.	.	.	5.55	4.64	0.57946	.	0.000000	0.41396	D	0.000890	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.33940	T	0.23	-10.3717	10.962	0.47391	0.0909:0.0:0.9091:0.0	.	.	.	.	X	74	.	ENSP00000311679:W74X	W	+	3	0	ZNF483	113329718	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	2.959000	0.49153	2.777000	0.95525	0.609000	0.83330	TGG		PASS	0.473	ZNF483-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053641.1	XM_088567		43	103	43	103	---	---	---	---
SLC46A2	57864	broad.mit.edu	37	9	115652195	115652195	+	Missense_Mutation	SNP	A	A	G			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr9:115652195A>G	ENST00000374228.4	-	1	998	c.767T>C	c.(766-768)cTg>cCg	p.L256P		NM_033051.3	NP_149040.3	Q9BY10	TSCOT_HUMAN	solute carrier family 46, member 2	256					negative regulation of T cell apoptotic process (GO:0070233)|regulation of T cell differentiation (GO:0045580)|T cell homeostasis (GO:0043029)|thymus development (GO:0048538)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	symporter activity (GO:0015293)	p.L256P(1)		central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(11)|pancreas(1)|skin(1)	18						ATCAGGATCCAGAGTGCGGTA	0.562																																						uc004bgk.2																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1						c.(766-768)CTG>CCG		solute carrier family 46, member 2							103.0	95.0	97.0					9																	115652195		2203	4300	6503	SO:0001583	missense	57864					integral to membrane|plasma membrane	symporter activity	g.chr9:115652195A>G	AF242557	CCDS6786.1	9q32	2013-05-22	2007-03-29	2007-03-29	ENSG00000119457	ENSG00000119457		"""Solute carriers"""	16055	protein-coding gene	gene with protein product		608956	"""thymic stromal co-transporter"""	TSCOT		10978518, 12826694	Standard	NM_033051		Approved	Ly110	uc004bgk.3	Q9BY10	OTTHUMG00000020513	ENST00000374228.4:c.767T>C	9.37:g.115652195A>G	ENSP00000363345:p.Leu256Pro						p.L256P	NM_033051	NP_149040	Q9BY10	TSCOT_HUMAN			1	999	-			256			Cytoplasmic (Potential).		B1ALK1|Q86VT0|Q96NE2	Missense_Mutation	SNP	ENST00000374228.4	37	c.767T>C	CCDS6786.1	.	.	.	.	.	.	.	.	.	.	A	4.536	0.099565	0.08681	.	.	ENSG00000119457	ENST00000374228	T	0.54071	0.59	5.4	5.4	0.78164	Major facilitator superfamily domain, general substrate transporter (1);	0.609757	0.16412	N	0.215560	T	0.50051	0.1593	L	0.51422	1.61	0.52501	D	0.999959	B	0.12630	0.006	B	0.14578	0.011	T	0.44847	-0.9301	10	0.49607	T	0.09	-13.4064	15.1417	0.72615	1.0:0.0:0.0:0.0	.	256	Q9BY10	TSCOT_HUMAN	P	256	ENSP00000363345:L256P	ENSP00000363345:L256P	L	-	2	0	SLC46A2	114692016	1.000000	0.71417	0.991000	0.47740	0.126000	0.20510	2.859000	0.48364	2.049000	0.60858	0.449000	0.29647	CTG		PASS	0.562	SLC46A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053702.1	NM_033051		22	71	22	71	---	---	---	---
ZFP37	7539	broad.mit.edu	37	9	115806140	115806140	+	Missense_Mutation	SNP	C	C	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr9:115806140C>A	ENST00000374227.3	-	4	785	c.758G>T	c.(757-759)tGc>tTc	p.C253F	ZFP37_ENST00000553380.1_Missense_Mutation_p.C268F|ZFP37_ENST00000555206.1_Missense_Mutation_p.C254F	NM_001282515.1|NM_001282518.1	NP_001269444.1|NP_001269447.1	Q9Y6Q3	ZFP37_HUMAN	ZFP37 zinc finger protein	253					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)	p.C253F(1)		NS(1)|breast(3)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	38						ACTATGACAGCATAATTTGTC	0.363																																						uc004bgm.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(757-759)TGC>TTC		zinc finger protein 37 homolog							236.0	227.0	230.0					9																	115806140		2203	4300	6503	SO:0001583	missense	7539					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr9:115806140C>A	AF022158	CCDS6787.1, CCDS65109.1, CCDS65110.1	9q32	2013-01-08	2012-11-27		ENSG00000136866	ENSG00000136866		"""Zinc fingers, C2H2-type"", ""-"""	12863	protein-coding gene	gene with protein product		602951	"""zinc finger protein homologous to Zfp37 in mouse"", ""zinc finger protein 37 homolog (mouse)"""				Standard	NM_001282515		Approved	ZNF906	uc004bgm.1	Q9Y6Q3	OTTHUMG00000021019	ENST00000374227.3:c.758G>T	9.37:g.115806140C>A	ENSP00000363344:p.Cys253Phe					ZFP37_uc011lwz.1_Missense_Mutation_p.C268F|ZFP37_uc011lxa.1_Missense_Mutation_p.C254F	p.C253F	NM_003408	NP_003399	Q9Y6Q3	ZFP37_HUMAN			4	786	-			253					A0AVJ9|B4DVX4|G3V3L7|Q5T7Q4	Missense_Mutation	SNP	ENST00000374227.3	37	c.758G>T	CCDS6787.1	.	.	.	.	.	.	.	.	.	.	C	0.008	-1.869354	0.00547	.	.	ENSG00000136866	ENST00000374227;ENST00000555206;ENST00000553380	T;T;T	0.05513	3.49;3.43;3.51	3.37	-1.21	0.09524	.	0.767945	0.11129	N	0.596583	T	0.01222	0.0040	N	0.00186	-1.895	0.09310	N	1	B;B;B	0.06786	0.001;0.001;0.001	B;B;B	0.06405	0.002;0.002;0.001	T	0.44620	-0.9316	10	0.35671	T	0.21	5.2563	1.4657	0.02405	0.4206:0.2222:0.2373:0.1199	.	254;268;253	G3V3L7;Q9Y6Q3-2;Q9Y6Q3	.;.;ZFP37_HUMAN	F	253;254;268	ENSP00000363344:C253F;ENSP00000451310:C254F;ENSP00000452552:C268F	ENSP00000363344:C253F	C	-	2	0	ZFP37	114845961	0.000000	0.05858	0.046000	0.18839	0.265000	0.26407	-0.505000	0.06367	-0.214000	0.10078	0.655000	0.94253	TGC		PASS	0.363	ZFP37-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000055439.1	NM_003408		103	215	103	215	---	---	---	---
DFNB31	25861	broad.mit.edu	37	9	117228590	117228590	+	Missense_Mutation	SNP	G	G	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr9:117228590G>A	ENST00000362057.3	-	3	1088	c.920C>T	c.(919-921)aCt>aTt	p.T307I	DFNB31_ENST00000265134.6_5'UTR	NM_001173425.1|NM_015404.3	NP_001166896.1|NP_056219	Q9P202	WHRN_HUMAN	deafness, autosomal recessive 31	307	PDZ 2. {ECO:0000255|PROSITE- ProRule:PRU00143}.				inner ear receptor stereocilium organization (GO:0060122)|retina homeostasis (GO:0001895)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)	actin filament (GO:0005884)|cilium (GO:0005929)|cytoplasm (GO:0005737)|stereocilia ankle link complex (GO:0002142)|stereocilium (GO:0032420)		p.T307I(1)		central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(9)|liver(1)|lung(14)|ovary(5)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						GTCCACGCCAGTGATGTAAAT	0.617																																						uc004biz.3																			1	Substitution - Missense(1)		lung(1)	ovary(4)|central_nervous_system(1)|pancreas(1)	6						c.(919-921)ACT>ATT		CASK-interacting protein CIP98 isoform 1							87.0	82.0	84.0					9																	117228590		2203	4300	6503	SO:0001583	missense	25861				inner ear receptor stereocilium organization|retina homeostasis|sensory perception of light stimulus|sensory perception of sound	cytoplasm|growth cone|stereocilium		g.chr9:117228590G>A	AK056190	CCDS6806.1, CCDS43870.1	9q32	2013-06-19			ENSG00000095397	ENSG00000095397			16361	protein-coding gene	gene with protein product	"""whirlin"""	607928				12833159, 17171570	Standard	NM_015404		Approved	CIP98, WHRN, USH2D, PDZD7B	uc004biz.4	Q9P202	OTTHUMG00000020539	ENST00000362057.3:c.920C>T	9.37:g.117228590G>A	ENSP00000354623:p.Thr307Ile					DFNB31_uc004biy.3_5'UTR|DFNB31_uc004bja.3_Missense_Mutation_p.T307I	p.T307I	NM_015404	NP_056219	Q9P202	WHRN_HUMAN			3	1569	-			307			PDZ 2.		A5PKU1|A5PKZ9|Q5TAU9|Q5TAV0|Q5TAV1|Q5TAV2|Q96MZ9|Q9H9F4|Q9UFZ3	Missense_Mutation	SNP	ENST00000362057.3	37	c.920C>T	CCDS6806.1	.	.	.	.	.	.	.	.	.	.	G	25.3	4.621421	0.87460	.	.	ENSG00000095397	ENST00000362057	T	0.29397	1.57	5.01	5.01	0.66863	PDZ/DHR/GLGF (4);	0.094081	0.64402	D	0.000001	T	0.48926	0.1527	L	0.43701	1.375	0.80722	D	1	D;D	0.71674	0.998;0.998	D;D	0.74674	0.984;0.984	T	0.49908	-0.8889	10	0.87932	D	0	-17.974	17.4481	0.87584	0.0:0.0:1.0:0.0	.	307;307	B9EGE6;Q9P202	.;WHRN_HUMAN	I	307	ENSP00000354623:T307I	ENSP00000354623:T307I	T	-	2	0	DFNB31	116268411	1.000000	0.71417	0.974000	0.42286	0.857000	0.48899	8.877000	0.92386	2.479000	0.83701	0.491000	0.48974	ACT		PASS	0.617	DFNB31-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053776.2	NM_015404		65	83	65	83	---	---	---	---
ASTN2	23245	broad.mit.edu	37	9	120053605	120053605	+	Splice_Site	SNP	C	C	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr9:120053605C>A	ENST00000313400.4	-	2	730	c.630G>T	c.(628-630)atG>atT	p.M210I	ASTN2_ENST00000361477.3_5'UTR|ASTN2_ENST00000373996.3_Splice_Site_p.M210I|ASTN2_ENST00000361209.2_Splice_Site_p.M210I			O75129	ASTN2_HUMAN	astrotactin 2	210					negative regulation of protein localization to cell surface (GO:2000009)	cell pole (GO:0060187)|endosome (GO:0005768)|integral component of membrane (GO:0016021)		p.M210I(1)		breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(21)|lung(45)|ovary(4)|pancreas(2)|prostate(2)|skin(9)|stomach(1)|urinary_tract(1)	102						CATCACTCACCATCACAGAAA	0.622																																						uc004bjs.1																			1	Substitution - Missense(1)		lung(1)	skin(4)|ovary(3)|breast(1)|kidney(1)	9						c.(628-630)ATG>ATT		astrotactin 2 isoform c							35.0	34.0	34.0					9																	120053605		2203	4300	6503	SO:0001630	splice_region_variant	23245					integral to membrane		g.chr9:120053605C>A	AF116574	CCDS6814.1, CCDS6815.1, CCDS48009.1, CCDS48009.2, CCDS55334.1	9q33	2008-02-05			ENSG00000148219	ENSG00000148219			17021	protein-coding gene	gene with protein product		612856				9734811	Standard	NM_014010		Approved	KIAA0634	uc004bjt.2	O75129	OTTHUMG00000021013	ENST00000313400.4:c.630+1G>T	9.37:g.120053605C>A						ASTN2_uc004bjr.1_Missense_Mutation_p.M210I|ASTN2_uc004bjt.1_Missense_Mutation_p.M210I	p.M210I	NM_198187	NP_937830	O75129	ASTN2_HUMAN			2	731	-			210			Helical; (Potential).		A2A2T7|A2A2T9|Q52LQ2|Q5JVX8|Q5JVX9|Q5JVY1|Q5VXG8|Q5VZX6|Q8N6P8|Q8WV47|Q96FL4|Q9UHW6	Missense_Mutation	SNP	ENST00000313400.4	37	c.630G>T		.	.	.	.	.	.	.	.	.	.	C	19.50	3.840120	0.71488	.	.	ENSG00000148219	ENST00000313400;ENST00000373996;ENST00000361209	T;T;T	0.11821	2.8;2.8;2.74	5.06	5.06	0.68205	.	0.000000	0.85682	D	0.000000	T	0.24275	0.0588	L	0.27053	0.805	0.80722	D	1	D;P;B	0.57257	0.979;0.936;0.335	D;P;B	0.63957	0.92;0.885;0.19	T	0.01172	-1.1429	9	.	.	.	-29.3293	18.977	0.92742	0.0:1.0:0.0:0.0	.	210;210;210	O75129-2;O75129;O75129-3	.;ASTN2_HUMAN;.	I	210	ENSP00000314038:M210I;ENSP00000363108:M210I;ENSP00000354504:M210I	.	M	-	3	0	ASTN2	119093426	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	7.578000	0.82498	2.782000	0.95742	0.655000	0.94253	ATG		PASS	0.622	ASTN2-201	KNOWN	basic	protein_coding	protein_coding		NM_014010	Missense_Mutation	11	46	11	46	---	---	---	---
PTGS1	5742	broad.mit.edu	37	9	125148949	125148949	+	Missense_Mutation	SNP	A	A	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr9:125148949A>T	ENST00000362012.2	+	9	1239	c.1234A>T	c.(1234-1236)Atg>Ttg	p.M412L	PTGS1_ENST00000373698.5_Missense_Mutation_p.M303L|PTGS1_ENST00000540753.1_Intron|AL162424.1_ENST00000600713.1_5'Flank|PTGS1_ENST00000223423.4_Intron	NM_000962.3|NM_001271164.1|NM_001271367.1|NM_080591.2	NP_000953.2|NP_001258093.1|NP_001258296.1|NP_542158.1	P23219	PGH1_HUMAN	prostaglandin-endoperoxide synthase 1 (prostaglandin G/H synthase and cyclooxygenase)	412					arachidonic acid metabolic process (GO:0019369)|cyclooxygenase pathway (GO:0019371)|inflammatory response (GO:0006954)|lipid metabolic process (GO:0006629)|prostaglandin biosynthetic process (GO:0001516)|regulation of blood pressure (GO:0008217)|regulation of cell proliferation (GO:0042127)|response to oxidative stress (GO:0006979)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|photoreceptor outer segment (GO:0001750)	dioxygenase activity (GO:0051213)|heme binding (GO:0020037)|metal ion binding (GO:0046872)|peroxidase activity (GO:0004601)|prostaglandin-endoperoxide synthase activity (GO:0004666)	p.M412L(1)		large_intestine(3)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	8					Acetaminophen(DB00316)|Acetylsalicylic acid(DB00945)|Antipyrine(DB01435)|Antrafenine(DB01419)|Balsalazide(DB01014)|Bortezomib(DB00188)|Bromfenac(DB00963)|Candesartan(DB00796)|Carprofen(DB00821)|Carvedilol(DB01136)|Chlorpropamide(DB00672)|Dapsone(DB00250)|Desmopressin(DB00035)|Diazepam(DB00829)|Diclofenac(DB00586)|Diethylcarbamazine(DB00711)|Diflunisal(DB00861)|Dihomo-gamma-linolenic acid(DB00154)|Diphenhydramine(DB01075)|Dronabinol(DB00470)|Eletriptan(DB00216)|Eszopiclone(DB00402)|Etodolac(DB00749)|Etoposide(DB00773)|Fenoprofen(DB00573)|Flurbiprofen(DB00712)|Hexobarbital(DB01355)|Hydromorphone(DB00327)|Ibuprofen(DB01050)|Icosapent(DB00159)|Ifosfamide(DB01181)|Imatinib(DB00619)|Indomethacin(DB00328)|Irbesartan(DB01029)|Ketamine(DB01221)|Ketobemidone(DB06738)|Ketoprofen(DB01009)|Ketorolac(DB00465)|Lornoxicam(DB06725)|Lumiracoxib(DB01283)|Magnesium salicylate(DB01397)|Meclofenamic acid(DB00939)|Mefenamic acid(DB00784)|Meloxicam(DB00814)|Mesalazine(DB00244)|Minoxidil(DB00350)|Montelukast(DB00471)|Nabumetone(DB00461)|Naproxen(DB00788)|Nateglinide(DB00731)|Nepafenac(DB06802)|Niflumic Acid(DB04552)|Nortriptyline(DB00540)|Oxaprozin(DB00991)|Phenylbutazone(DB00812)|Pioglitazone(DB01132)|Piroxicam(DB00554)|Rosiglitazone(DB00412)|Salicylate-sodium(DB01398)|Salicylic acid(DB00936)|Salsalate(DB01399)|Sulfamethoxazole(DB01015)|Sulfasalazine(DB00795)|Sulindac(DB00605)|Suprofen(DB00870)|Tenoxicam(DB00469)|Terbinafine(DB00857)|Thalidomide(DB01041)|Tiaprofenic acid(DB01600)|Tolmetin(DB00500)|Torasemide(DB00214)|Trabectedin(DB05109)|Triflusal(DB08814)|Trisalicylate-choline(DB01401)|Valproic Acid(DB00313)|Voriconazole(DB00582)|Zafirlukast(DB00549)|Zileuton(DB00744)|Zolpidem(DB00425)|Zopiclone(DB01198)	CAACACCTCCATGTTGGTGGA	0.592																																						uc004bmg.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(1234-1236)ATG>TTG		prostaglandin-endoperoxide synthase 1 isoform 1	Acetaminophen(DB00316)|Aspirin(DB00945)|Balsalazide(DB01014)|Bromfenac(DB00963)|Ciclopirox(DB01188)|Diclofenac(DB00586)|Diflunisal(DB00861)|Dipyrone(DB04817)|Etodolac(DB00749)|Fenoprofen(DB00573)|Flurbiprofen(DB00712)|gamma-Homolinolenic acid(DB00154)|Ibuprofen(DB01050)|Icosapent(DB00159)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Ketorolac(DB00465)|Lumiracoxib(DB01283)|Meclofenamic acid(DB00939)|Mefenamic acid(DB00784)|Mesalazine(DB00244)|Minoxidil(DB00350)|Nabumetone(DB00461)|Naproxen(DB00788)|Phenacetin(DB03783)|Piroxicam(DB00554)|Rofecoxib(DB00533)|Salicyclic acid(DB00936)|Salsalate(DB01399)|Sulindac(DB00605)|Suprofen(DB00870)|Tenoxicam(DB00469)|Tolmetin(DB00500)						133.0	111.0	118.0					9																	125148949		2203	4300	6503	SO:0001583	missense	5742				cyclooxygenase pathway|hormone biosynthetic process|regulation of blood pressure|response to oxidative stress|xenobiotic metabolic process	endoplasmic reticulum membrane|Golgi apparatus|microsome|plasma membrane	heme binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peroxidase activity|prostaglandin-endoperoxide synthase activity	g.chr9:125148949A>T	M59979	CCDS6842.1, CCDS6843.1, CCDS59520.1, CCDS59521.1, CCDS75895.1	9q32-q33.3	2008-02-05			ENSG00000095303	ENSG00000095303	1.14.99.1		9604	protein-coding gene	gene with protein product		176805				2512924, 1907252	Standard	NM_000962		Approved	COX1, PGHS-1, PTGHS	uc004bmg.2	P23219	OTTHUMG00000020605	ENST00000362012.2:c.1234A>T	9.37:g.125148949A>T	ENSP00000354612:p.Met412Leu					PTGS1_uc011lys.1_Intron|PTGS1_uc010mwb.1_Intron|PTGS1_uc004bmf.1_Intron|PTGS1_uc004bmh.1_Missense_Mutation_p.M303L|PTGS1_uc011lyt.1_Missense_Mutation_p.M303L	p.M412L	NM_000962	NP_000953	P23219	PGH1_HUMAN			9	1369	+			412					A8K1V7|B4DHQ2|B4E2S5|Q15122|Q3HY28|Q3HY29|Q5T7T6|Q5T7T7|Q5T7T8	Missense_Mutation	SNP	ENST00000362012.2	37	c.1234A>T	CCDS6842.1	.	.	.	.	.	.	.	.	.	.	A	11.37	1.618955	0.28801	.	.	ENSG00000095303	ENST00000362012;ENST00000373698	T;T	0.66638	-0.22;-0.22	5.17	5.17	0.71159	.	0.231740	0.52532	D	0.000073	T	0.52108	0.1714	N	0.25144	0.715	0.39613	D	0.969901	B	0.02656	0.0	B	0.06405	0.002	T	0.49399	-0.8944	10	0.25106	T	0.35	-20.1793	14.2194	0.65815	1.0:0.0:0.0:0.0	.	412	P23219	PGH1_HUMAN	L	412;303	ENSP00000354612:M412L;ENSP00000362802:M303L	ENSP00000354612:M412L	M	+	1	0	PTGS1	124188770	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	2.178000	0.42519	1.948000	0.56530	0.533000	0.62120	ATG		PASS	0.592	PTGS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053933.1			34	133	34	133	---	---	---	---
OR1J2	26740	broad.mit.edu	37	9	125273890	125273890	+	Missense_Mutation	SNP	G	G	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr9:125273890G>T	ENST00000335302.5	+	1	810	c.810G>T	c.(808-810)aaG>aaT	p.K270N		NM_054107.1	NP_473448.1	Q8NGS2	OR1J2_HUMAN	olfactory receptor, family 1, subfamily J, member 2	270						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.K270N(1)		NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(8)|pancreas(1)|skin(7)|stomach(1)	26						CTATTGACAAGGATGTCATTG	0.478																																						uc004bmj.1																			1	Substitution - Missense(1)		lung(1)	skin(3)|pancreas(1)|breast(1)	5						c.(808-810)AAG>AAT		olfactory receptor, family 1, subfamily J,							201.0	180.0	187.0					9																	125273890		2203	4300	6503	SO:0001583	missense	26740				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr9:125273890G>T		CCDS35121.1	9q33.2	2013-09-20			ENSG00000197233	ENSG00000197233		"""GPCR / Class A : Olfactory receptors"""	8209	protein-coding gene	gene with protein product				OR1J3, OR1J5			Standard	XM_005251920		Approved	OST044	uc011lyv.2	Q8NGS2	OTTHUMG00000020604	ENST00000335302.5:c.810G>T	9.37:g.125273890G>T	ENSP00000335575:p.Lys270Asn					OR1J2_uc011lyv.1_Missense_Mutation_p.K270N	p.K270N	NM_054107	NP_473448	Q8NGS2	OR1J2_HUMAN			4	1665	+			270			Extracellular (Potential).		A3KFL9|Q6IF14|Q96R90|Q9NZP1	Missense_Mutation	SNP	ENST00000335302.5	37	c.810G>T	CCDS35121.1	.	.	.	.	.	.	.	.	.	.	G	14.90	2.674108	0.47781	.	.	ENSG00000197233	ENST00000335302	T	0.00107	8.72	5.14	0.0671	0.14364	GPCR, rhodopsin-like superfamily (1);	0.170868	0.27270	U	0.020126	T	0.00178	0.0005	M	0.66560	2.04	0.09310	N	1	B	0.17038	0.02	B	0.26864	0.074	T	0.33085	-0.9882	10	0.52906	T	0.07	.	9.6841	0.40087	0.3716:0.0:0.6284:0.0	.	270	Q8NGS2	OR1J2_HUMAN	N	270	ENSP00000335575:K270N	ENSP00000335575:K270N	K	+	3	2	OR1J2	124313711	0.000000	0.05858	0.163000	0.22734	0.682000	0.39822	-0.160000	0.10041	0.094000	0.17404	0.632000	0.83419	AAG		PASS	0.478	OR1J2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053932.1			59	246	59	246	---	---	---	---
OR1L8	138881	broad.mit.edu	37	9	125330086	125330086	+	Missense_Mutation	SNP	G	G	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr9:125330086G>T	ENST00000304865.2	-	1	752	c.671C>A	c.(670-672)aCt>aAt	p.T224N		NM_001004454.1	NP_001004454.1	Q8NGR8	OR1L8_HUMAN	olfactory receptor, family 1, subfamily L, member 8	224						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.T224N(2)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20						GAGAACTGTAGTGAGGATTCG	0.423																																						uc004bmp.1																			2	Substitution - Missense(2)		lung(2)	ovary(2)|central_nervous_system(1)	3						c.(670-672)ACT>AAT		olfactory receptor, family 1, subfamily L,							80.0	66.0	71.0					9																	125330086		2203	4300	6503	SO:0001583	missense	138881				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr9:125330086G>T		CCDS35124.1	9q33.2	2013-09-20			ENSG00000171496	ENSG00000171496		"""GPCR / Class A : Olfactory receptors"""	15110	protein-coding gene	gene with protein product							Standard	NM_001004454		Approved		uc004bmp.1	Q8NGR8	OTTHUMG00000020609	ENST00000304865.2:c.671C>A	9.37:g.125330086G>T	ENSP00000306607:p.Thr224Asn						p.T224N	NM_001004454	NP_001004454	Q8NGR8	OR1L8_HUMAN			1	671	-			224			Cytoplasmic (Potential).		A3KFM3|B9EIR6|Q6IF15|Q96R79	Missense_Mutation	SNP	ENST00000304865.2	37	c.671C>A	CCDS35124.1	.	.	.	.	.	.	.	.	.	.	G	1.128	-0.653374	0.03480	.	.	ENSG00000171496	ENST00000304865	T	0.37411	1.2	4.49	-3.96	0.04106	GPCR, rhodopsin-like superfamily (1);	0.918840	0.09033	N	0.858410	T	0.23094	0.0558	N	0.21324	0.655	0.09310	N	1	B	0.15141	0.012	B	0.30495	0.116	T	0.41142	-0.9525	10	0.31617	T	0.26	-0.1793	7.648	0.28331	0.2346:0.3516:0.4138:0.0	.	224	Q8NGR8	OR1L8_HUMAN	N	224	ENSP00000306607:T224N	ENSP00000306607:T224N	T	-	2	0	OR1L8	124369907	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-3.864000	0.00347	-0.494000	0.06669	-0.634000	0.03986	ACT		PASS	0.423	OR1L8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053939.1			11	40	11	40	---	---	---	---
TRUB2	26995	broad.mit.edu	37	9	131087483	131087483	+	5'Flank	SNP	G	G	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr9:131087483G>A	ENST00000372890.4	-	0	0				TRUB2_ENST00000546104.1_5'Flank|COQ4_ENST00000372875.3_Silent_p.Q88Q|COQ4_ENST00000300452.3_Silent_p.Q88Q|TRUB2_ENST00000460320.1_5'Flank	NM_015679.1	NP_056494.1	O95900	TRUB2_HUMAN	TruB pseudouridine (psi) synthase family member 2						pseudouridine synthesis (GO:0001522)|tRNA processing (GO:0008033)		poly(A) RNA binding (GO:0044822)|pseudouridine synthase activity (GO:0009982)	p.Q88Q(1)		kidney(2)|large_intestine(2)|lung(3)|ovary(1)	8						TCAGGGACCAGATGAGGAGGG	0.572																																						uc004bur.3																			1	Substitution - coding silent(1)		lung(1)		0						c.(262-264)CAG>CAA		coenzyme Q4 homolog precursor							60.0	55.0	57.0					9																	131087483		2203	4300	6503	SO:0001631	upstream_gene_variant	51117				ubiquinone biosynthetic process	mitochondrial inner membrane		g.chr9:131087483G>A	AK001956	CCDS6897.1	9q34.11	2014-01-28	2013-09-02		ENSG00000167112	ENSG00000167112			17170	protein-coding gene	gene with protein product		610727	"""TruB pseudouridine (psi) synthase homolog 2 (E. coli)"""			12736709	Standard	NM_015679		Approved	CLONE24922	uc004buq.1	O95900	OTTHUMG00000020741		9.37:g.131087483G>A	Exception_encountered					TRUB2_uc004buq.1_5'Flank|COQ4_uc011max.1_Silent_p.Q88Q|COQ4_uc004bus.2_Silent_p.Q64Q|COQ4_uc010mxy.2_Silent_p.Q64Q	p.Q88Q	NM_016035	NP_057119	Q9Y3A0	COQ4_HUMAN			3	611	+			88					B7Z7G5	Silent	SNP	ENST00000372890.4	37	c.264G>A	CCDS6897.1																																																																																				PASS	0.572	TRUB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054419.1	NM_015679		12	57	12	57	---	---	---	---
COQ4	51117	broad.mit.edu	37	9	131094561	131094561	+	Splice_Site	SNP	G	G	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr9:131094561G>T	ENST00000300452.3	+	5	855	c.532G>T	c.(532-534)Ggg>Tgg	p.G178W	COQ4_ENST00000461102.1_3'UTR	NM_016035.3	NP_057119			coenzyme Q4									p.G178W(1)		endometrium(4)|large_intestine(1)|lung(4)	9						CAACATCCTGGGTGAGTGCCC	0.622																																						uc004bur.3																			1	Substitution - Missense(1)		lung(1)		0						c.(532-534)GGG>TGG		coenzyme Q4 homolog precursor							87.0	55.0	66.0					9																	131094561		2203	4300	6503	SO:0001630	splice_region_variant	51117				ubiquinone biosynthetic process	mitochondrial inner membrane		g.chr9:131094561G>T	AF151850	CCDS6898.1	9q34.2	2013-10-18	2013-10-18		ENSG00000167113	ENSG00000167113			19693	protein-coding gene	gene with protein product		612898	"""coenzyme Q4 homolog (yeast)"", ""coenzyme Q4 homolog (S. cerevisiae)"""			11469793, 18474229	Standard	NM_016035		Approved	CGI-92	uc004bur.4	Q9Y3A0	OTTHUMG00000020743	ENST00000300452.3:c.532+1G>T	9.37:g.131094561G>T						COQ4_uc004bus.2_Missense_Mutation_p.G154W|COQ4_uc010mxy.2_Missense_Mutation_p.G154W	p.G178W	NM_016035	NP_057119	Q9Y3A0	COQ4_HUMAN			5	879	+			178						Missense_Mutation	SNP	ENST00000300452.3	37	c.532G>T	CCDS6898.1	.	.	.	.	.	.	.	.	.	.	G	21.4	4.149318	0.78001	.	.	ENSG00000167113	ENST00000300452	T	0.55234	0.53	5.85	4.01	0.46588	.	0.000000	0.85682	D	0.000000	T	0.77658	0.4163	H	0.94847	3.59	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.80654	-0.1286	10	0.87932	D	0	-13.7934	9.8763	0.41205	0.0724:0.0:0.788:0.1396	.	178	Q9Y3A0	COQ4_HUMAN	W	178	ENSP00000300452:G178W	ENSP00000300452:G178W	G	+	1	0	COQ4	130134382	1.000000	0.71417	1.000000	0.80357	0.847000	0.48162	9.117000	0.94347	0.797000	0.33971	0.561000	0.74099	GGG		PASS	0.622	COQ4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054427.1	NM_016035	Missense_Mutation	13	28	13	28	---	---	---	---
NUP214	8021	broad.mit.edu	37	9	134106048	134106048	+	Missense_Mutation	SNP	G	G	T	rs142328071		TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr9:134106048G>T	ENST00000359428.5	+	34	6250	c.6106G>T	c.(6106-6108)Ggc>Tgc	p.G2036C	NUP214_ENST00000483497.2_Missense_Mutation_p.G862C|NUP214_ENST00000451030.1_Missense_Mutation_p.G2037C|NUP214_ENST00000411637.2_Missense_Mutation_p.G2026C			P35658	NU214_HUMAN	nucleoporin 214kDa	2036	11 X 3 AA approximate repeats.|11 X 5 AA approximate repeats.|18 X 4 AA approximate repeats.|Pro/Ser/Thr-rich.				carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|gene expression (GO:0010467)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|protein export from nucleus (GO:0006611)|protein import into nucleus (GO:0006606)|regulation of cell cycle (GO:0051726)|regulation of glucose transport (GO:0010827)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|focal adhesion (GO:0005925)|intracellular membrane-bounded organelle (GO:0043231)|nuclear pore (GO:0005643)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleocytoplasmic transporter activity (GO:0005487)|transporter activity (GO:0005215)	p.G2036C(1)		NS(1)|breast(9)|central_nervous_system(3)|endometrium(13)|kidney(2)|large_intestine(9)|liver(2)|lung(29)|ovary(2)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	86	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;3.42e-05)|Epithelial(140;0.000256)		CACATCCTTCGGCACGCTCGC	0.567			T	"""DEK, SET, ABL1"""	"""AML, T-ALL"""																																Pancreas(4;24 48 25510 30394 32571)	uc004cag.2				Dom	yes		9	9q34.1	8021	T	nucleoporin 214kDa (CAN)			L	DEK|SET|ABL1		AML|T-ALL		1	Substitution - Missense(1)		lung(1)	breast(7)|lung(3)|skin(3)|ovary(2)|central_nervous_system(1)	16						c.(6106-6108)GGC>TGC		nucleoporin 214kDa							109.0	86.0	94.0					9																	134106048		2203	4300	6503	SO:0001583	missense	8021				carbohydrate metabolic process|glucose transport|mRNA metabolic process|protein export from nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore|nucleoplasm	protein binding	g.chr9:134106048G>T	X64228	CCDS6940.1	9q34	2008-07-21	2002-08-29		ENSG00000126883	ENSG00000126883			8064	protein-coding gene	gene with protein product	"""nuclear pore complex protein Nup214"", ""CAN protein, putative oncogene"""	114350	"""nucleoporin 214kD (CAIN)"""			8108440, 2370860	Standard	NM_005085		Approved	CAIN, CAN, D9S46E, N214	uc004cag.3	P35658	OTTHUMG00000020816	ENST00000359428.5:c.6106G>T	9.37:g.134106048G>T	ENSP00000352400:p.Gly2036Cys					NUP214_uc004cah.2_Missense_Mutation_p.G2026C|NUP214_uc004cai.2_Missense_Mutation_p.G1466C|NUP214_uc010mzg.2_RNA|NUP214_uc011mcg.1_Missense_Mutation_p.G862C	p.G2036C	NM_005085	NP_005076	P35658	NU214_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;3.42e-05)|Epithelial(140;0.000256)	34	6217	+	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)	2036			Pro/Ser/Thr-rich.|11 X 3 AA approximate repeats.|11 X 5 AA approximate repeats.|18 X 4 AA approximate repeats.		A6NFQ0|Q15010|Q3KQZ0|Q5JUP7|Q75R47|Q86XD3	Missense_Mutation	SNP	ENST00000359428.5	37	c.6106G>T	CCDS6940.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	17.50|17.50	3.405959|3.405959	0.62288|0.62288	.|.	.|.	ENSG00000126883|ENSG00000126883	ENST00000359428;ENST00000411637;ENST00000451030;ENST00000540899;ENST00000438605;ENST00000483497;ENST00000528406|ENST00000541375;ENST00000476004	T;T;T;T|.	0.62788|.	0.43;0.45;0.43;0.0|.	5.42|5.42	4.53|4.53	0.55603|0.55603	.|.	.|.	.|.	.|.	.|.	T|T	0.34832|0.34832	0.0911|0.0911	N|N	0.08118|0.08118	0|0	0.47214|0.47214	D|D	0.999357|0.999357	D;D;D;D|.	0.89917|.	1.0;1.0;1.0;1.0|.	D;D;D;D|.	0.97110|.	0.996;0.984;1.0;1.0|.	T|T	0.15549|0.15549	-1.0433|-1.0433	9|5	0.87932|.	D|.	0|.	0.0|0.0	11.3591|11.3591	0.49633|0.49633	0.1508:0.0:0.8492:0.0|0.1508:0.0:0.8492:0.0	.|.	862;1630;2026;2036|.	B7ZAV2;Q5JUP9;P35658-4;P35658|.	.;.;.;NU214_HUMAN|.	C|L	2036;2026;2037;1630;1465;862;24|2069;47	ENSP00000352400:G2036C;ENSP00000396576:G2026C;ENSP00000405014:G2037C;ENSP00000436793:G862C|.	ENSP00000352400:G2036C|.	G|R	+|+	1|2	0|0	NUP214|NUP214	133095869|133095869	1.000000|1.000000	0.71417|0.71417	0.375000|0.375000	0.26029|0.26029	0.579000|0.579000	0.36224|0.36224	5.252000|5.252000	0.65445|0.65445	1.303000|1.303000	0.44873|0.44873	0.561000|0.561000	0.74099|0.74099	GGC|CGG		PASS	0.567	NUP214-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000054694.2	NM_005085		37	62	37	62	---	---	---	---
PPAPDC3	84814	broad.mit.edu	37	9	134165440	134165440	+	Missense_Mutation	SNP	G	G	T	rs545266412	byFrequency	TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr9:134165440G>T	ENST00000372264.3	+	1	360	c.56G>T	c.(55-57)cGg>cTg	p.R19L	PPAPDC3_ENST00000372261.1_Missense_Mutation_p.R19L	NM_032728.3	NP_116117.3	Q8NBV4	PPAC3_HUMAN	phosphatidic acid phosphatase type 2 domain containing 3	19					negative regulation of myotube differentiation (GO:0010832)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)	hydrolase activity (GO:0016787)	p.R19L(1)		breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(9)|skin(1)	16	all_hematologic(7;0.0119)			OV - Ovarian serous cystadenocarcinoma(145;1.22e-05)|Epithelial(140;0.000173)		GTCCTCAACCGGGCTGAGTTC	0.711																																						uc004cal.2																			1	Substitution - Missense(1)		lung(1)	breast(1)	1						c.(55-57)CGG>CTG		phosphatidic acid phosphatase type 2 domain							13.0	16.0	15.0					9																	134165440		2195	4289	6484	SO:0001583	missense	84814					endoplasmic reticulum membrane|integral to membrane|nuclear envelope	hydrolase activity	g.chr9:134165440G>T	AK027568	CCDS6942.1	9q34.2-q34.3	2008-02-26	2005-07-15	2005-07-15	ENSG00000160539	ENSG00000160539			28174	protein-coding gene	gene with protein product			"""chromosome 9 open reading frame 67"""	C9orf67		12958361	Standard	NM_032728		Approved	MGC12921, FLJ14662, NET39	uc004cal.2	Q8NBV4	OTTHUMG00000020822	ENST00000372264.3:c.56G>T	9.37:g.134165440G>T	ENSP00000361338:p.Arg19Leu						p.R19L	NM_032728	NP_116117	Q8NBV4	PPAC3_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;1.22e-05)|Epithelial(140;0.000173)	1	360	+	all_hematologic(7;0.0119)		19			Cytoplasmic (Potential).		Q5T6P0|Q96SS7|Q9BRC3	Missense_Mutation	SNP	ENST00000372264.3	37	c.56G>T	CCDS6942.1	.	.	.	.	.	.	.	.	.	.	G	36	5.679019	0.96764	.	.	ENSG00000160539	ENST00000372264;ENST00000372261	T;T	0.57595	1.38;0.39	5.38	5.38	0.77491	.	0.000000	0.85682	D	0.000000	T	0.53012	0.1770	M	0.70275	2.135	0.80722	D	1	P	0.43024	0.798	B	0.35073	0.195	T	0.63761	-0.6564	10	0.87932	D	0	-43.027	18.1257	0.89585	0.0:0.0:1.0:0.0	.	19	Q8NBV4	PPAC3_HUMAN	L	19	ENSP00000361338:R19L;ENSP00000361335:R19L	ENSP00000361335:R19L	R	+	2	0	PPAPDC3	133155261	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.002000	0.93572	2.530000	0.85305	0.561000	0.74099	CGG		PASS	0.711	PPAPDC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054724.1	NM_032728		12	23	12	23	---	---	---	---
PPAPDC3	84814	broad.mit.edu	37	9	134183627	134183627	+	Missense_Mutation	SNP	G	G	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr9:134183627G>T	ENST00000372264.3	+	2	1073	c.769G>T	c.(769-771)Gtc>Ttc	p.V257F		NM_032728.3	NP_116117.3	Q8NBV4	PPAC3_HUMAN	phosphatidic acid phosphatase type 2 domain containing 3	257					negative regulation of myotube differentiation (GO:0010832)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)	hydrolase activity (GO:0016787)	p.V257F(1)		breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(9)|skin(1)	16	all_hematologic(7;0.0119)			OV - Ovarian serous cystadenocarcinoma(145;1.22e-05)|Epithelial(140;0.000173)		GGTGGAGCTGGTCTGGATGCC	0.667																																						uc004cal.2																			1	Substitution - Missense(1)		lung(1)	breast(1)	1						c.(769-771)GTC>TTC		phosphatidic acid phosphatase type 2 domain							33.0	35.0	35.0					9																	134183627		2203	4300	6503	SO:0001583	missense	84814					endoplasmic reticulum membrane|integral to membrane|nuclear envelope	hydrolase activity	g.chr9:134183627G>T	AK027568	CCDS6942.1	9q34.2-q34.3	2008-02-26	2005-07-15	2005-07-15	ENSG00000160539	ENSG00000160539			28174	protein-coding gene	gene with protein product			"""chromosome 9 open reading frame 67"""	C9orf67		12958361	Standard	NM_032728		Approved	MGC12921, FLJ14662, NET39	uc004cal.2	Q8NBV4	OTTHUMG00000020822	ENST00000372264.3:c.769G>T	9.37:g.134183627G>T	ENSP00000361338:p.Val257Phe						p.V257F	NM_032728	NP_116117	Q8NBV4	PPAC3_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;1.22e-05)|Epithelial(140;0.000173)	2	1073	+	all_hematologic(7;0.0119)		257			Helical; (Potential).		Q5T6P0|Q96SS7|Q9BRC3	Missense_Mutation	SNP	ENST00000372264.3	37	c.769G>T	CCDS6942.1	.	.	.	.	.	.	.	.	.	.	G	10.83	1.460305	0.26248	.	.	ENSG00000160539	ENST00000372264	T	0.75589	-0.95	4.68	4.68	0.58851	.	0.205941	0.41823	D	0.000804	T	0.55257	0.1909	N	0.16743	0.435	0.80722	D	1	B	0.33044	0.395	B	0.34722	0.188	T	0.53683	-0.8404	10	0.28530	T	0.3	-58.8145	6.6003	0.22697	0.1025:0.1853:0.7122:0.0	.	257	Q8NBV4	PPAC3_HUMAN	F	257	ENSP00000361338:V257F	ENSP00000361338:V257F	V	+	1	0	PPAPDC3	133173448	1.000000	0.71417	1.000000	0.80357	0.614000	0.37383	1.522000	0.35921	2.296000	0.77279	0.505000	0.49811	GTC		PASS	0.667	PPAPDC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054724.1	NM_032728		3	15	3	15	---	---	---	---
POMT1	10585	broad.mit.edu	37	9	134396836	134396836	+	Missense_Mutation	SNP	G	G	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr9:134396836G>A	ENST00000372228.3	+	18	2047	c.1868G>A	c.(1867-1869)aGa>aAa	p.R623K	RP11-334J6.6_ENST00000415423.1_RNA|POMT1_ENST00000341012.7_Missense_Mutation_p.R547K|POMT1_ENST00000419118.2_Missense_Mutation_p.R449K|POMT1_ENST00000541219.1_Missense_Mutation_p.R341K|POMT1_ENST00000485278.1_3'UTR|POMT1_ENST00000354713.4_Missense_Mutation_p.R571K|POMT1_ENST00000402686.3_Missense_Mutation_p.R601K|POMT1_ENST00000404875.2_Missense_Mutation_p.R484K|POMT1_ENST00000423007.1_Missense_Mutation_p.R601K	NM_007171.3	NP_009102	Q9Y6A1	POMT1_HUMAN	protein-O-mannosyltransferase 1	623					carbohydrate metabolic process (GO:0005975)|extracellular matrix organization (GO:0030198)|mannosylation (GO:0097502)|multicellular organismal development (GO:0007275)|protein O-linked glycosylation (GO:0006493)	acrosomal vesicle (GO:0001669)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|sarcoplasmic reticulum (GO:0016529)	dolichyl-phosphate-mannose-protein mannosyltransferase activity (GO:0004169)|mannosyltransferase activity (GO:0000030)|metal ion binding (GO:0046872)	p.R623K(1)		NS(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	31		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;2.65e-05)|Epithelial(140;0.000259)		CGACGGCGAAGAAATGTCCAT	0.517																																						uc004cav.2																			1	Substitution - Missense(1)		lung(1)	upper_aerodigestive_tract(1)	1	GRCh37	CM074444	POMT1	M		c.(1867-1869)AGA>AAA		protein-O-mannosyltransferase 1 isoform a							162.0	120.0	134.0					9																	134396836		2203	4300	6503	SO:0001583	missense	10585				multicellular organismal development|protein O-linked glycosylation	endoplasmic reticulum membrane|integral to membrane	dolichyl-phosphate-mannose-protein mannosyltransferase activity|metal ion binding	g.chr9:134396836G>A	AF095136	CCDS6943.1, CCDS43894.1, CCDS43895.1, CCDS48045.1	9q34.1	2014-09-17			ENSG00000130714	ENSG00000130714	2.4.1.109	"""Dolichyl D-mannosyl phosphate dependent mannosyltransferases"""	9202	protein-coding gene	gene with protein product	"""dolichyl-phosphate-mannose-protein mannosyltransferase"""	607423				10366449	Standard	NM_001077366		Approved	LGMD2K	uc004cav.3	Q9Y6A1	OTTHUMG00000020826	ENST00000372228.3:c.1868G>A	9.37:g.134396836G>A	ENSP00000361302:p.Arg623Lys					POMT1_uc004cax.2_Missense_Mutation_p.R601K|POMT1_uc011mcj.1_Missense_Mutation_p.R341K|POMT1_uc004cau.2_Missense_Mutation_p.R601K|POMT1_uc004caw.2_Missense_Mutation_p.R547K|POMT1_uc011mck.1_Missense_Mutation_p.R484K|POMT1_uc011mcl.1_Missense_Mutation_p.R449K|POMT1_uc011mcm.1_Missense_Mutation_p.R571K	p.R623K	NM_007171	NP_009102	Q9Y6A1	POMT1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;2.65e-05)|Epithelial(140;0.000259)	18	2070	+		Myeloproliferative disorder(178;0.204)	623					B3KQG0|B4DIF0|Q5JT01|Q5JT06|Q5JT08|Q8NC91|Q8TCA9|Q9NX32|Q9NX82|Q9UNT2	Missense_Mutation	SNP	ENST00000372228.3	37	c.1868G>A	CCDS6943.1	.	.	.	.	.	.	.	.	.	.	G	20.4	3.991731	0.74703	.	.	ENSG00000130714	ENST00000423007;ENST00000404875;ENST00000341012;ENST00000372228;ENST00000402686;ENST00000419118;ENST00000541219;ENST00000354713;ENST00000372220	D;D;D;D;D;D;D;D;D	0.95949	-3.86;-3.86;-3.86;-3.86;-3.86;-3.86;-3.86;-3.86;-3.86	5.82	5.82	0.92795	.	0.045916	0.85682	D	0.000000	D	0.97598	0.9213	M	0.84948	2.725	0.58432	D	0.999999	B;D;D;P	0.60575	0.218;0.988;0.962;0.705	B;P;B;P	0.59171	0.266;0.853;0.339;0.519	D	0.97985	1.0351	10	0.87932	D	0	-15.5714	19.0655	0.93108	0.0:0.0:1.0:0.0	.	571;341;623;601	B4DTW4;B4DI80;Q9Y6A1;Q9Y6A1-2	.;.;POMT1_HUMAN;.	K	601;484;547;623;601;449;341;571;222	ENSP00000404119:R601K;ENSP00000384531:R484K;ENSP00000343034:R547K;ENSP00000361302:R623K;ENSP00000385797:R601K;ENSP00000403032:R449K;ENSP00000440895:R341K;ENSP00000346748:R571K;ENSP00000361294:R222K	ENSP00000343034:R547K	R	+	2	0	POMT1	133386657	1.000000	0.71417	0.014000	0.15608	0.093000	0.18481	8.122000	0.89584	2.750000	0.94351	0.561000	0.74099	AGA		PASS	0.517	POMT1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000054737.1	NM_007171		14	83	14	83	---	---	---	---
GFI1B	8328	broad.mit.edu	37	9	135862794	135862794	+	Missense_Mutation	SNP	G	G	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr9:135862794G>T	ENST00000339463.3	+	7	1045	c.226G>T	c.(226-228)Gcc>Tcc	p.A76S	GFI1B_ENST00000372123.1_Missense_Mutation_p.A76S|GFI1B_ENST00000372124.1_Missense_Mutation_p.A76S|GFI1B_ENST00000450530.1_Missense_Mutation_p.A76S|GFI1B_ENST00000372122.1_Missense_Mutation_p.A76S|GFI1B_ENST00000534944.1_Missense_Mutation_p.A76S			Q5VTD9	GFI1B_HUMAN	growth factor independent 1B transcription repressor	76					cell proliferation (GO:0008283)|chromatin modification (GO:0016568)|multicellular organismal development (GO:0007275)|negative regulation of histone H3-K4 methylation (GO:0051572)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of granulocyte differentiation (GO:0030854)|positive regulation of histone H3-K9 methylation (GO:0051574)|regulation of erythrocyte differentiation (GO:0045646)|transcription from RNA polymerase II promoter (GO:0006366)	nuclear matrix (GO:0016363)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II transcription factor binding (GO:0001085)	p.A76S(1)		central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)	21				OV - Ovarian serous cystadenocarcinoma(145;9.04e-07)|Epithelial(140;1.17e-05)		GGCCAGGATGGCCCCGGCACC	0.627																																						uc004ccg.2																			1	Substitution - Missense(1)		lung(1)	large_intestine(1)|ovary(1)|central_nervous_system(1)	3						c.(226-228)GCC>TCC		growth factor independent 1B transcription							72.0	65.0	67.0					9																	135862794		2203	4300	6503	SO:0001583	missense	8328				cell proliferation|chromatin modification|multicellular organismal development|negative regulation of transcription from RNA polymerase II promoter|regulation of transcription involved in G1 phase of mitotic cell cycle|transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|zinc ion binding	g.chr9:135862794G>T	AF081946	CCDS6957.1, CCDS48049.1	9q34.13	2014-09-17	2007-10-04		ENSG00000165702	ENSG00000165702		"""Zinc fingers, C2H2-type"""	4238	protein-coding gene	gene with protein product		604383	"""growth factor independent 1B (potential regulator of CDKN1A, translocated in CML)"""			9878267	Standard	NM_001135031		Approved		uc004ccg.3	Q5VTD9	OTTHUMG00000020848	ENST00000339463.3:c.226G>T	9.37:g.135862794G>T	ENSP00000344782:p.Ala76Ser					GFI1B_uc010mzy.2_Missense_Mutation_p.A76S	p.A76S	NM_004188	NP_004179	Q5VTD9	GFI1B_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;9.04e-07)|Epithelial(140;1.17e-05)	3	377	+			76					O95270|Q5VTD8|Q6FHZ2|Q6T888	Missense_Mutation	SNP	ENST00000339463.3	37	c.226G>T	CCDS6957.1	.	.	.	.	.	.	.	.	.	.	G	0.005	-2.150408	0.00328	.	.	ENSG00000165702	ENST00000372124;ENST00000339463;ENST00000450530;ENST00000534944;ENST00000372123;ENST00000372122	T;T;T;T;T;T	0.08634	3.23;3.07;3.07;3.23;3.23;3.07	4.71	-0.0821	0.13699	.	1.538850	0.03539	N	0.223669	T	0.05686	0.0149	N	0.24115	0.695	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.06405	0.002;0.0	T	0.39643	-0.9604	10	0.38643	T	0.18	-17.442	0.5465	0.00655	0.2546:0.1906:0.3597:0.195	.	76;76	Q5VTD9-2;Q5VTD9	.;GFI1B_HUMAN	S	76	ENSP00000361197:A76S;ENSP00000344782:A76S;ENSP00000409546:A76S;ENSP00000446134:A76S;ENSP00000361196:A76S;ENSP00000361195:A76S	ENSP00000344782:A76S	A	+	1	0	GFI1B	134852615	0.000000	0.05858	0.002000	0.10522	0.003000	0.03518	0.065000	0.14466	0.132000	0.18615	0.655000	0.94253	GCC		PASS	0.627	GFI1B-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393840.1	NM_004188		27	48	27	48	---	---	---	---
GTF3C5	9328	broad.mit.edu	37	9	135906463	135906463	+	Missense_Mutation	SNP	G	G	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr9:135906463G>A	ENST00000372097.5	+	1	388	c.65G>A	c.(64-66)cGa>cAa	p.R22Q	GTF3C5_ENST00000342018.8_Missense_Mutation_p.R22Q|GTF3C5_ENST00000372108.5_Missense_Mutation_p.R22Q|GTF3C5_ENST00000372095.5_5'UTR|GTF3C5_ENST00000485692.1_3'UTR|GTF3C5_ENST00000372099.6_Missense_Mutation_p.R22Q	NM_012087.3	NP_036219.2	Q9Y5Q8	TF3C5_HUMAN	general transcription factor IIIC, polypeptide 5, 63kDa	22					5S class rRNA transcription from RNA polymerase III type 1 promoter (GO:0042791)|gene expression (GO:0010467)|skeletal muscle cell differentiation (GO:0035914)|transcription from RNA polymerase III promoter (GO:0006383)|transcription, DNA-templated (GO:0006351)|tRNA transcription from RNA polymerase III promoter (GO:0042797)	nucleoplasm (GO:0005654)|transcription factor TFIIIC complex (GO:0000127)	DNA binding (GO:0003677)	p.R22Q(1)		endometrium(5)|kidney(1)|large_intestine(7)|lung(6)|pancreas(1)|prostate(1)	21				OV - Ovarian serous cystadenocarcinoma(145;4.01e-06)|Epithelial(140;4e-05)		AGGCGGGAGCGACGCATGGTG	0.721																																						uc004cci.3																			1	Substitution - Missense(1)		lung(1)		0						c.(64-66)CGA>CAA		general transcription factor IIIC, polypeptide 5							38.0	35.0	36.0					9																	135906463		2202	4298	6500	SO:0001583	missense	9328					transcription factor TFIIIC complex	DNA binding|protein binding	g.chr9:135906463G>A	AF133124	CCDS6958.1, CCDS48050.1, CCDS75927.1	9q34.13	2010-03-23	2002-08-29		ENSG00000148308	ENSG00000148308		"""General transcription factors"""	4668	protein-coding gene	gene with protein product	"""transcription factor IIIC, 63 kD"""	604890	"""general transcription factor IIIC, polypeptide 5 (63kD)"""			10373544	Standard	NM_012087		Approved	TFiiiC2-63, TFIIIC63, TFIIICepsilon	uc004ccj.4	Q9Y5Q8	OTTHUMG00000020856	ENST00000372097.5:c.65G>A	9.37:g.135906463G>A	ENSP00000361169:p.Arg22Gln					GTF3C5_uc010mzz.2_5'UTR|GTF3C5_uc004ccj.3_Missense_Mutation_p.R22Q	p.R22Q	NM_012087	NP_036219	Q9Y5Q8	TF3C5_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;4.01e-06)|Epithelial(140;4e-05)	1	402	+			22					A6NI44|A6NJB9|Q5T7U2|Q5T7U3|Q8N2U7|Q8N857|Q96GD9|Q9H4P2	Missense_Mutation	SNP	ENST00000372097.5	37	c.65G>A	CCDS6958.1	.	.	.	.	.	.	.	.	.	.	G	14.96	2.690563	0.48097	.	.	ENSG00000148308	ENST00000372097;ENST00000372099;ENST00000372108;ENST00000342018	T;T;T;T	0.52526	0.67;0.77;0.66;0.69	5.27	2.46	0.29980	.	0.814868	0.11070	N	0.602973	T	0.30916	0.0780	L	0.27053	0.805	0.21740	N	0.999561	B;B	0.23591	0.088;0.024	B;B	0.17433	0.018;0.003	T	0.21348	-1.0248	10	0.41790	T	0.15	-3.6188	4.7281	0.12950	0.3298:0.1492:0.521:0.0	.	22;22	Q9Y5Q8-3;Q9Y5Q8	.;TF3C5_HUMAN	Q	22	ENSP00000361169:R22Q;ENSP00000361171:R22Q;ENSP00000361180:R22Q;ENSP00000339530:R22Q	ENSP00000339530:R22Q	R	+	2	0	GTF3C5	134896284	0.059000	0.20769	0.080000	0.20451	0.753000	0.42808	1.288000	0.33296	0.241000	0.21283	0.561000	0.74099	CGA		PASS	0.721	GTF3C5-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054826.1	NM_001122823		6	15	6	15	---	---	---	---
ADAMTS13	11093	broad.mit.edu	37	9	136304491	136304491	+	Nonsense_Mutation	SNP	T	T	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr9:136304491T>A	ENST00000371929.3	+	15	2154	c.1710T>A	c.(1708-1710)taT>taA	p.Y570*	ADAMTS13_ENST00000355699.2_Nonsense_Mutation_p.Y570*|ADAMTS13_ENST00000536611.1_Nonsense_Mutation_p.Y242*|ADAMTS13_ENST00000356589.2_Nonsense_Mutation_p.Y539*|ADAMTS13_ENST00000485925.1_3'UTR|ADAMTS13_ENST00000371916.1_3'UTR	NM_139025.3|NM_139027.3	NP_620594.1|NP_620596.2	Q76LX8	ATS13_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 13	570	Spacer.				cell-matrix adhesion (GO:0007160)|glycoprotein metabolic process (GO:0009100)|integrin-mediated signaling pathway (GO:0007229)|peptide catabolic process (GO:0043171)|platelet activation (GO:0030168)|protein processing (GO:0016485)|proteolysis (GO:0006508)|response to interferon-gamma (GO:0034341)|response to interleukin-4 (GO:0070670)|response to tumor necrosis factor (GO:0034612)	cell surface (GO:0009986)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.Y570*(1)		central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(13)|ovary(2)|prostate(3)|skin(4)	36				OV - Ovarian serous cystadenocarcinoma(145;1.06e-07)|Epithelial(140;1.28e-06)|all cancers(34;1.46e-05)		TTCTAGAATATGTCACATTTC	0.493																																						uc004cdv.3																			1	Substitution - Nonsense(1)		lung(1)	central_nervous_system(2)|skin(2)|ovary(1)|kidney(1)	6						c.(1708-1710)TAT>TAA		ADAM metallopeptidase with thrombospondin type 1							153.0	127.0	136.0					9																	136304491		2203	4300	6503	SO:0001587	stop_gained	11093				cell-matrix adhesion|glycoprotein metabolic process|integrin-mediated signaling pathway|peptide catabolic process|platelet activation|protein processing|proteolysis	cell surface|proteinaceous extracellular matrix	calcium ion binding|integrin binding|metalloendopeptidase activity|zinc ion binding	g.chr9:136304491T>A	AJ011374	CCDS6970.1, CCDS6971.1, CCDS6972.1	9q34	2008-07-21	2005-08-19	2001-09-21	ENSG00000160323	ENSG00000160323		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	1366	protein-coding gene	gene with protein product		604134	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 13"""	C9orf8		11557746, 11535495	Standard	NM_139025		Approved	VWFCP, TTP, vWF-CP, FLJ42993, MGC118899, MGC118900, DKFZp434C2322	uc004cdv.4	Q76LX8	OTTHUMG00000020876	ENST00000371929.3:c.1710T>A	9.37:g.136304491T>A	ENSP00000360997:p.Tyr570*					ADAMTS13_uc004cdp.3_5'UTR|ADAMTS13_uc004cdt.1_Nonsense_Mutation_p.Y570*|ADAMTS13_uc004cdu.1_Nonsense_Mutation_p.Y539*|ADAMTS13_uc004cdw.3_Nonsense_Mutation_p.Y570*|ADAMTS13_uc004cdx.3_Nonsense_Mutation_p.Y539*|ADAMTS13_uc004cdy.1_RNA|ADAMTS13_uc004cdz.3_Nonsense_Mutation_p.Y240*|ADAMTS13_uc004cds.1_Nonsense_Mutation_p.Y95*|ADAMTS13_uc004cdr.1_RNA	p.Y570*	NM_139025	NP_620594	Q76LX8	ATS13_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;1.06e-07)|Epithelial(140;1.28e-06)|all cancers(34;1.46e-05)	15	2154	+			570			Spacer.		Q6UY16|Q710F6|Q711T8|Q96L37|Q9H0G3|Q9UGQ1	Nonsense_Mutation	SNP	ENST00000371929.3	37	c.1710T>A	CCDS6970.1	.	.	.	.	.	.	.	.	.	.	T	22.9	4.348094	0.82132	.	.	ENSG00000160323	ENST00000371929;ENST00000355699;ENST00000356589;ENST00000536611	.	.	.	5.13	-8.62	0.00881	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	18.114	0.89545	0.0:0.1147:0.0:0.8853	.	.	.	.	X	570;570;539;242	.	ENSP00000347927:Y570X	Y	+	3	2	ADAMTS13	135294312	0.940000	0.31905	0.597000	0.28824	0.078000	0.17371	-0.063000	0.11655	-1.794000	0.01256	-0.464000	0.05259	TAT		PASS	0.493	ADAMTS13-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000054920.1	NM_139025		33	152	33	152	---	---	---	---
COL5A1	1289	broad.mit.edu	37	9	137593147	137593147	+	Missense_Mutation	SNP	G	G	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr9:137593147G>A	ENST00000371817.3	+	4	1036	c.622G>A	c.(622-624)Ggc>Agc	p.G208S	COL5A1_ENST00000464187.1_3'UTR	NM_000093.3|NM_001278074.1	NP_000084.3|NP_001265003.1	P20908	CO5A1_HUMAN	collagen, type V, alpha 1	208	Laminin G-like.				axon guidance (GO:0007411)|blood vessel development (GO:0001568)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|collagen biosynthetic process (GO:0032964)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular fibril organization (GO:0043206)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|eye morphogenesis (GO:0048592)|heart morphogenesis (GO:0003007)|integrin biosynthetic process (GO:0045112)|negative regulation of endodermal cell differentiation (GO:1903225)|regulation of cellular component organization (GO:0051128)|skin development (GO:0043588)|tendon development (GO:0035989)|wound healing, spreading of epidermal cells (GO:0035313)	basement membrane (GO:0005604)|collagen type V trimer (GO:0005588)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	extracellular matrix structural constituent (GO:0005201)|heparin binding (GO:0008201)|integrin binding (GO:0005178)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)|proteoglycan binding (GO:0043394)	p.G208S(1)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115		Myeloproliferative disorder(178;0.0341)		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)		CATCGTGTTTGGCACCCGGAT	0.557																																						uc004cfe.2																			1	Substitution - Missense(1)		lung(1)	skin(4)|ovary(3)|pancreas(2)|central_nervous_system(1)|kidney(1)	11						c.(622-624)GGC>AGC		alpha 1 type V collagen preproprotein							141.0	107.0	119.0					9																	137593147		2203	4300	6503	SO:0001583	missense	1289				axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells	collagen type V	heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding	g.chr9:137593147G>A	D90279	CCDS6982.1, CCDS75932.1	9q34.2-q34.3	2014-09-17			ENSG00000130635	ENSG00000130635		"""Collagens"""	2209	protein-coding gene	gene with protein product	"""alpha 1 type V collagen"""	120215				1572660	Standard	NM_001278074		Approved		uc031tfl.1	P20908	OTTHUMG00000020891	ENST00000371817.3:c.622G>A	9.37:g.137593147G>A	ENSP00000360882:p.Gly208Ser						p.G208S	NM_000093	NP_000084	P20908	CO5A1_HUMAN		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)	4	1004	+		Myeloproliferative disorder(178;0.0341)	208			TSP N-terminal.|Laminin G-like.		Q15094|Q5SUX4	Missense_Mutation	SNP	ENST00000371817.3	37	c.622G>A	CCDS6982.1	.	.	.	.	.	.	.	.	.	.	G	19.85	3.903936	0.72754	.	.	ENSG00000130635	ENST00000371817	D	0.95885	-3.84	4.93	4.93	0.64822	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (1);Laminin G, thrombospondin-type, N-terminal (1);Laminin G, subdomain 2 (1);	0.000000	0.64402	U	0.000001	D	0.98112	0.9377	H	0.95260	3.645	0.58432	D	0.999998	D	0.56746	0.977	P	0.57204	0.815	D	0.99568	1.0970	10	0.87932	D	0	.	18.5036	0.90890	0.0:0.0:1.0:0.0	.	208	P20908	CO5A1_HUMAN	S	208	ENSP00000360882:G208S	ENSP00000360882:G208S	G	+	1	0	COL5A1	136732968	1.000000	0.71417	0.713000	0.30519	0.400000	0.30750	9.489000	0.97949	2.428000	0.82296	0.491000	0.48974	GGC		PASS	0.557	COL5A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054954.2	NM_000093		5	34	5	34	---	---	---	---
C9orf172	389813	broad.mit.edu	37	9	139741707	139741707	+	Silent	SNP	C	C	G			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr9:139741707C>G	ENST00000436881.1	+	1	2841	c.2841C>G	c.(2839-2841)ggC>ggG	p.G947G	PHPT1_ENST00000247665.10_5'Flank|PHPT1_ENST00000371661.1_5'Flank|PHPT1_ENST00000545326.1_5'Flank	NM_001080482.2	NP_001073951.2	C9J069	CI172_HUMAN	chromosome 9 open reading frame 172	947								p.G947G(1)		endometrium(2)|large_intestine(1)|lung(6)	9						GGCGCACCGGCCGCCCCTTCA	0.692																																						uc011meh.1																			1	Substitution - coding silent(1)		lung(1)		0						c.(2839-2841)GGC>GGG		chromosome 9 open reading frame 172							8.0	10.0	10.0					9																	139741707		1869	4006	5875	SO:0001819	synonymous_variant	389813							g.chr9:139741707C>G		CCDS48059.1	9q34.3	2012-04-03			ENSG00000232434	ENSG00000232434			37284	protein-coding gene	gene with protein product							Standard	NM_001080482		Approved		uc011meh.2	C9J069		ENST00000436881.1:c.2841C>G	9.37:g.139741707C>G						PHPT1_uc004cjp.2_5'Flank|PHPT1_uc011mei.1_5'Flank|PHPT1_uc004cjq.3_5'Flank	p.G947G	NM_001080482	NP_001073951	C9J069	CI172_HUMAN			1	2841	+			947						Silent	SNP	ENST00000436881.1	37	c.2841C>G	CCDS48059.1																																																																																				PASS	0.692	C9orf172-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001080482		7	12	7	12	---	---	---	---
ABCA2	20	broad.mit.edu	37	9	139909925	139909925	+	Missense_Mutation	SNP	T	T	C			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr9:139909925T>C	ENST00000371605.3	-	23	3782	c.3635A>G	c.(3634-3636)tAt>tGt	p.Y1212C	ABCA2_ENST00000341511.6_Missense_Mutation_p.Y1213C|ABCA2_ENST00000492260.1_5'Flank|ABCA2_ENST00000265662.5_Missense_Mutation_p.Y1213C			Q9BZC7	ABCA2_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 2	1212	ABC transporter 1. {ECO:0000255|PROSITE- ProRule:PRU00434}.				ATP catabolic process (GO:0006200)|cholesterol homeostasis (GO:0042632)|lipid metabolic process (GO:0006629)|regulation of intracellular cholesterol transport (GO:0032383)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to drug (GO:0042493)|response to steroid hormone (GO:0048545)|transmembrane transport (GO:0055085)|transport (GO:0006810)	ATP-binding cassette (ABC) transporter complex (GO:0043190)|cytoplasmic membrane-bounded vesicle (GO:0016023)|endosome (GO:0005768)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|nucleotide binding (GO:0000166)	p.Y1213C(1)		central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|liver(1)|lung(25)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	41	all_cancers(76;0.16)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048)		CCCGTCGCCATAGGTGCCCTT	0.657																																						uc011mem.1																			1	Substitution - Missense(1)		lung(1)		0						c.(3634-3636)TAT>TGT		ATP-binding cassette, sub-family A, member 2							25.0	28.0	27.0					9																	139909925		2164	4285	6449	SO:0001583	missense	20				cholesterol homeostasis|lipid metabolic process|regulation of intracellular cholesterol transport|regulation of transcription from RNA polymerase II promoter|response to drug|response to steroid hormone stimulus	ATP-binding cassette (ABC) transporter complex|cytoplasmic membrane-bounded vesicle|endosome|integral to membrane|microtubule organizing center	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr9:139909925T>C	U18235	CCDS43909.1	9q34	2012-03-14			ENSG00000107331	ENSG00000107331		"""ATP binding cassette transporters / subfamily A"""	32	protein-coding gene	gene with protein product		600047		ABC2		8088782	Standard	NM_212533		Approved		uc022bpy.1	Q9BZC7	OTTHUMG00000020958	ENST00000371605.3:c.3635A>G	9.37:g.139909925T>C	ENSP00000360666:p.Tyr1212Cys					ABCA2_uc011mel.1_Missense_Mutation_p.Y1213C|ABCA2_uc004ckl.1_Missense_Mutation_p.Y1143C|ABCA2_uc004ckm.1_Missense_Mutation_p.Y1243C|ABCA2_uc004ckn.1_RNA	p.Y1212C	NM_001606	NP_001597	Q9BZC7	ABCA2_HUMAN	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048)	23	3783	-	all_cancers(76;0.16)	Myeloproliferative disorder(178;0.0511)	1212			ABC transporter 1.		A6NED5|Q5SPY5|Q5W9G5|Q76MW7|Q9HC28	Missense_Mutation	SNP	ENST00000371605.3	37	c.3635A>G		.	.	.	.	.	.	.	.	.	.	T	16.00	2.997681	0.54147	.	.	ENSG00000107331	ENST00000265662;ENST00000371605;ENST00000355090;ENST00000341511	T;T;T	0.78126	-1.15;-1.15;-1.15	3.94	3.94	0.45596	ABC transporter-like (1);	0.309632	0.30911	U	0.008632	D	0.82522	0.5055	M	0.67700	2.07	0.43564	D	0.995883	D;D	0.65815	0.995;0.991	P;P	0.55785	0.706;0.784	D	0.84954	0.0873	10	0.87932	D	0	.	12.6054	0.56521	0.0:0.0:0.0:1.0	.	1212;1243	Q9BZC7;E7ETC3	ABCA2_HUMAN;.	C	1213;1212;1243;1213	ENSP00000265662:Y1213C;ENSP00000360666:Y1212C;ENSP00000344155:Y1213C	ENSP00000265662:Y1213C	Y	-	2	0	ABCA2	139029746	0.993000	0.37304	0.740000	0.30986	0.610000	0.37248	2.335000	0.43929	1.652000	0.50683	0.260000	0.18958	TAT		PASS	0.657	ABCA2-202	KNOWN	basic	protein_coding	protein_coding		NM_001606		7	6	7	6	---	---	---	---
TMEM203	94107	broad.mit.edu	37	9	140100357	140100357	+	5'Flank	SNP	A	A	G			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr9:140100357A>G	ENST00000343666.5	-	0	0				TPRN_ENST00000541945.1_5'Flank|NDOR1_ENST00000371521.4_Missense_Mutation_p.Y43C|NDOR1_ENST00000427047.2_Missense_Mutation_p.Y43C|TMEM203_ENST00000537254.1_5'Flank|NDOR1_ENST00000458322.2_Missense_Mutation_p.Y43C|NDOR1_ENST00000344894.5_Missense_Mutation_p.Y43C	NM_053045.1	NP_444273.1	Q969S6	TM203_HUMAN	transmembrane protein 203							integral component of membrane (GO:0016021)		p.Y43C(1)		central_nervous_system(1)|kidney(1)	2	all_cancers(76;0.0926)		STAD - Stomach adenocarcinoma(284;0.0698)	OV - Ovarian serous cystadenocarcinoma(145;6.37e-05)|Epithelial(140;0.00057)		CTGGACTCCTACCCGGTGGTG	0.711																																						uc004clw.2																			1	Substitution - Missense(1)		lung(1)		0						c.(127-129)TAC>TGC		NADPH dependent diflavin oxidoreductase 1							7.0	9.0	8.0					9																	140100357		2087	4135	6222	SO:0001631	upstream_gene_variant	27158				cell death	cytosol|intermediate filament cytoskeleton|nucleus|perinuclear region of cytoplasm	flavin adenine dinucleotide binding|FMN binding|iron ion binding|NADP binding|oxidoreductase activity|protein binding	g.chr9:140100357A>G	BC009283	CCDS35185.1	9q34.3	2007-12-18			ENSG00000187713	ENSG00000187713			28217	protein-coding gene	gene with protein product	"""HBeAg-binding protein 1"""					12477932	Standard	NM_053045		Approved	MGC14327, HBEBP1	uc004clv.3	Q969S6	OTTHUMG00000020985		9.37:g.140100357A>G	Exception_encountered					TMEM203_uc004clv.2_5'Flank|NDOR1_uc004clx.2_Missense_Mutation_p.Y43C|NDOR1_uc011mes.1_Missense_Mutation_p.Y43C|NDOR1_uc004cly.2_Missense_Mutation_p.Y43C	p.Y43C	NM_014434	NP_055249	Q9UHB4	NDOR1_HUMAN	STAD - Stomach adenocarcinoma(284;0.0698)	OV - Ovarian serous cystadenocarcinoma(145;6.37e-05)|Epithelial(140;0.00057)	1	239	+	all_cancers(76;0.0926)		43			Flavodoxin-like.		Q6NW08	Missense_Mutation	SNP	ENST00000343666.5	37	c.128A>G	CCDS35185.1	.	.	.	.	.	.	.	.	.	.	A	26.7	4.762136	0.89932	.	.	ENSG00000188566	ENST00000458322;ENST00000427047;ENST00000371521;ENST00000344894	T;T;T;T	0.75367	-0.93;-0.93;-0.93;-0.93	4.83	4.83	0.62350	Flavodoxin/nitric oxide synthase (2);	0.130445	0.53938	D	0.000050	D	0.85557	0.5724	M	0.89715	3.055	0.80722	D	1	D;B;D;P	0.63880	0.993;0.352;0.991;0.929	P;B;P;P	0.60117	0.867;0.286;0.869;0.808	D	0.87364	0.2346	10	0.54805	T	0.06	0.362	10.7831	0.46390	1.0:0.0:0.0:0.0	.	43;43;43;43	D3YTG6;D3YTH9;Q9UHB4-2;Q9UHB4	.;.;.;NDOR1_HUMAN	C	43	ENSP00000389905:Y43C;ENSP00000394309:Y43C;ENSP00000360576:Y43C;ENSP00000343344:Y43C	ENSP00000343344:Y43C	Y	+	2	0	NDOR1	139220178	1.000000	0.71417	0.731000	0.30826	0.970000	0.65996	4.395000	0.59678	1.806000	0.52798	0.459000	0.35465	TAC		PASS	0.711	TMEM203-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055325.2	NM_053045		3	19	3	19	---	---	---	---
CACNA1B	774	broad.mit.edu	37	9	140846807	140846807	+	Missense_Mutation	SNP	C	C	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr9:140846807C>A	ENST00000371372.1	+	7	1193	c.1048C>A	c.(1048-1050)Ctg>Atg	p.L350M	CACNA1B_ENST00000371363.1_Missense_Mutation_p.L350M|CACNA1B_ENST00000277551.2_Missense_Mutation_p.L350M|CACNA1B_ENST00000371355.4_Missense_Mutation_p.L350M|CACNA1B_ENST00000277549.5_5'UTR|CACNA1B_ENST00000371357.1_Missense_Mutation_p.L350M	NM_000718.3|NM_001243812.1	NP_000709.1|NP_001230741.1	Q00975	CAC1B_HUMAN	calcium channel, voltage-dependent, N type, alpha 1B subunit	350					calcium ion import (GO:0070509)|locomotory behavior (GO:0007626)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|neurotransmitter secretion (GO:0007269)|regulation of blood pressure (GO:0008217)|regulation of calcium ion transport (GO:0051924)|regulation of heart contraction (GO:0008016)|response to pain (GO:0048265)|synaptic transmission (GO:0007268)|transport (GO:0006810)	dendrite (GO:0030425)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|high voltage-gated calcium channel activity (GO:0008331)|protein C-terminus binding (GO:0008022)|voltage-gated calcium channel activity (GO:0005245)	p.L350M(1)		NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(17)|lung(31)|ovary(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(2)	80	all_cancers(76;0.166)			OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476)	Amlodipine(DB00381)|Gabapentin(DB00996)|Levetiracetam(DB01202)|Spironolactone(DB00421)|Verapamil(DB00661)	CATGCTCAACCTGGTGCTGGG	0.587																																						uc004cog.2																			1	Substitution - Missense(1)		lung(1)	breast(3)|large_intestine(2)|ovary(1)	6						c.(1048-1050)CTG>ATG		calcium channel, voltage-dependent, N type,	Amlodipine(DB00381)|Gabapentin(DB00996)						95.0	101.0	99.0					9																	140846807		2158	4266	6424	SO:0001583	missense	774				membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	ATP binding|protein C-terminus binding|voltage-gated calcium channel activity	g.chr9:140846807C>A	AB209467	CCDS59522.1, CCDS59523.1	9q34	2013-01-10	2007-02-16		ENSG00000148408	ENSG00000148408		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"", ""EF-hand domain containing"""	1389	protein-coding gene	gene with protein product		601012		CACNL1A5		8825650, 16382099	Standard	NM_000718		Approved	Cav2.2, CACNN	uc004cog.3	Q00975	OTTHUMG00000021002	ENST00000371372.1:c.1048C>A	9.37:g.140846807C>A	ENSP00000360423:p.Leu350Met						p.L350M	NM_000718	NP_000709	Q00975	CAC1B_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476)	7	1193	+	all_cancers(76;0.166)		350			Helical; Name=S6 of repeat I; (Potential).|I.		B1AQK5	Missense_Mutation	SNP	ENST00000371372.1	37	c.1048C>A	CCDS59522.1	.	.	.	.	.	.	.	.	.	.	C	18.99	3.738951	0.69304	.	.	ENSG00000148408	ENST00000371372;ENST00000277551;ENST00000371363;ENST00000371357;ENST00000371355	D;D;D;D;D	0.99158	-5.5;-5.5;-5.5;-5.5;-5.5	5.67	3.83	0.44106	.	0.000000	0.64402	D	0.000002	D	0.99257	0.9741	M	0.88031	2.925	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.99271	1.0893	10	0.62326	D	0.03	.	11.6621	0.51352	0.0:0.823:0.0:0.177	.	350	B1AQK6	.	M	350	ENSP00000360423:L350M;ENSP00000277551:L350M;ENSP00000360414:L350M;ENSP00000360408:L350M;ENSP00000360406:L350M	ENSP00000277551:L350M	L	+	1	2	CACNA1B	139966628	1.000000	0.71417	1.000000	0.80357	0.949000	0.60115	1.265000	0.33027	0.772000	0.33382	0.579000	0.79373	CTG		PASS	0.587	CACNA1B-001	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000055380.1	NM_000718		32	47	32	47	---	---	---	---
CACNA1B	774	broad.mit.edu	37	9	140991014	140991014	+	Missense_Mutation	SNP	C	C	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr9:140991014C>A	ENST00000371372.1	+	37	5318	c.5173C>A	c.(5173-5175)Cac>Aac	p.H1725N	CACNA1B_ENST00000371363.1_Missense_Mutation_p.H1723N|CACNA1B_ENST00000277551.2_Missense_Mutation_p.H1725N|CACNA1B_ENST00000371355.4_Missense_Mutation_p.H1726N|CACNA1B_ENST00000277549.5_Missense_Mutation_p.H919N|CACNA1B_ENST00000371365.2_Missense_Mutation_p.H89N|CACNA1B_ENST00000371357.1_Missense_Mutation_p.H1724N	NM_000718.3|NM_001243812.1	NP_000709.1|NP_001230741.1	Q00975	CAC1B_HUMAN	calcium channel, voltage-dependent, N type, alpha 1B subunit	1725	EF-hand. {ECO:0000255|PROSITE- ProRule:PRU00448}.				calcium ion import (GO:0070509)|locomotory behavior (GO:0007626)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|neurotransmitter secretion (GO:0007269)|regulation of blood pressure (GO:0008217)|regulation of calcium ion transport (GO:0051924)|regulation of heart contraction (GO:0008016)|response to pain (GO:0048265)|synaptic transmission (GO:0007268)|transport (GO:0006810)	dendrite (GO:0030425)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|high voltage-gated calcium channel activity (GO:0008331)|protein C-terminus binding (GO:0008022)|voltage-gated calcium channel activity (GO:0005245)	p.H89N(1)|p.H1725N(1)		NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(17)|lung(31)|ovary(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(2)	80	all_cancers(76;0.166)			OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476)	Amlodipine(DB00381)|Gabapentin(DB00996)|Levetiracetam(DB01202)|Spironolactone(DB00421)|Verapamil(DB00661)	AGGTCCTCACCACTTGGATGA	0.552																																						uc004cog.2																			2	Substitution - Missense(2)		lung(2)	breast(3)|large_intestine(2)|ovary(1)	6						c.(5173-5175)CAC>AAC		calcium channel, voltage-dependent, N type,	Amlodipine(DB00381)|Gabapentin(DB00996)						121.0	120.0	120.0					9																	140991014		2127	4261	6388	SO:0001583	missense	774				membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	ATP binding|protein C-terminus binding|voltage-gated calcium channel activity	g.chr9:140991014C>A	AB209467	CCDS59522.1, CCDS59523.1	9q34	2013-01-10	2007-02-16		ENSG00000148408	ENSG00000148408		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"", ""EF-hand domain containing"""	1389	protein-coding gene	gene with protein product		601012		CACNL1A5		8825650, 16382099	Standard	NM_000718		Approved	Cav2.2, CACNN	uc004cog.3	Q00975	OTTHUMG00000021002	ENST00000371372.1:c.5173C>A	9.37:g.140991014C>A	ENSP00000360423:p.His1725Asn					CACNA1B_uc004coi.2_Missense_Mutation_p.H937N|CACNA1B_uc004cok.1_RNA|CACNA1B_uc010ncp.1_Intron	p.H1725N	NM_000718	NP_000709	Q00975	CAC1B_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476)	36	5318	+	all_cancers(76;0.166)		1725			EF-hand.|Cytoplasmic (Potential).		B1AQK5	Missense_Mutation	SNP	ENST00000371372.1	37	c.5173C>A	CCDS59522.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	25.3|25.3	4.628097|4.628097	0.87560|0.87560	.|.	.|.	ENSG00000148408|ENSG00000148408	ENST00000371372;ENST00000277551;ENST00000277549;ENST00000371363;ENST00000371357;ENST00000371355;ENST00000371365|ENST00000413253	D;D;D;D;D;D;D|.	0.97480|.	-4.17;-4.18;-4.4;-4.16;-4.15;-4.15;-4.26|.	4.44|4.44	4.44|4.44	0.53790|0.53790	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|D	0.85553|0.85553	0.5723|0.5723	M|M	0.92077|0.92077	3.27|3.27	0.80722|0.80722	D|D	1|1	D;D|.	0.89917|.	1.0;1.0|.	D;D|.	0.76071|.	0.987;0.987|.	D|D	0.89774|0.89774	0.3956|0.3956	10|5	0.87932|.	D|.	0|.	.|.	17.4531|17.4531	0.87597|0.87597	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	1724;1723|.	B1AQK7;B1AQK6|.	.;.|.	N|Q	1725;1725;919;1723;1724;1726;89|89	ENSP00000360423:H1725N;ENSP00000277551:H1725N;ENSP00000277549:H919N;ENSP00000360414:H1723N;ENSP00000360408:H1724N;ENSP00000360406:H1726N;ENSP00000360416:H89N|.	ENSP00000277549:H919N|.	H|P	+|+	1|2	0|0	CACNA1B|CACNA1B	140110835|140110835	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.988000|0.988000	0.76386|0.76386	7.650000|7.650000	0.83521|0.83521	2.193000|2.193000	0.70182|0.70182	0.557000|0.557000	0.71058|0.71058	CAC|CCA		PASS	0.552	CACNA1B-001	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000055380.1	NM_000718		17	99	17	99	---	---	---	---
ADARB2	105	broad.mit.edu	37	10	1405856	1405856	+	Silent	SNP	C	C	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr10:1405856C>A	ENST00000381312.1	-	3	769	c.444G>T	c.(442-444)acG>acT	p.T148T	RP11-398B16.2_ENST00000432987.1_RNA	NM_018702.3	NP_061172.1	Q9NS39	RED2_HUMAN	adenosine deaminase, RNA-specific, B2 (non-functional)	148	DRBM 1. {ECO:0000255|PROSITE- ProRule:PRU00266}.				mRNA processing (GO:0006397)	nucleus (GO:0005634)	adenosine deaminase activity (GO:0004000)|double-stranded RNA binding (GO:0003725)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|single-stranded RNA binding (GO:0003727)	p.T148T(1)		breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(17)|prostate(2)|skin(1)|urinary_tract(1)	41		all_epithelial(10;0.059)|Colorectal(49;0.0815)		all cancers(11;0.0224)|GBM - Glioblastoma multiforme(2;0.0414)|Epithelial(11;0.165)		GCACCGGGCCCGTCTGCGACA	0.677																																						uc009xhq.2																			1	Substitution - coding silent(1)		lung(1)	large_intestine(2)|central_nervous_system(1)	3						c.(442-444)ACG>ACT		adenosine deaminase, RNA-specific, B2							31.0	28.0	29.0					10																	1405856		2203	4299	6502	SO:0001819	synonymous_variant	105				mRNA processing	mitochondrion|nucleus	adenosine deaminase activity|double-stranded RNA binding|metal ion binding|single-stranded RNA binding	g.chr10:1405856C>A	AF034837	CCDS7058.1	10p15.3	2013-05-20	2013-05-20		ENSG00000185736	ENSG00000185736	3.5.-.-		227	protein-coding gene	gene with protein product	"""RED2 homolog (rat)"""	602065	"""adenosine deaminase, RNA-specific, B2 (RED2 homolog rat)"", ""adenosine deaminase, RNA-specific, B2"""			9272162, 10836796	Standard	NM_018702		Approved	RED2, hRED2, ADAR3	uc009xhq.3	Q9NS39	OTTHUMG00000017543	ENST00000381312.1:c.444G>T	10.37:g.1405856C>A							p.T148T	NM_018702	NP_061172	Q9NS39	RED2_HUMAN		all cancers(11;0.0224)|GBM - Glioblastoma multiforme(2;0.0414)|Epithelial(11;0.165)	3	818	-		all_epithelial(10;0.059)|Colorectal(49;0.0815)	148			DRBM 1.		B2RPJ5|Q5VUT6|Q5VW42	Silent	SNP	ENST00000381312.1	37	c.444G>T	CCDS7058.1																																																																																				PASS	0.677	ADARB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046426.1	NM_018702		16	17	16	17	---	---	---	---
ADARB2	105	broad.mit.edu	37	10	1421339	1421339	+	Missense_Mutation	SNP	C	C	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr10:1421339C>A	ENST00000381312.1	-	2	442	c.117G>T	c.(115-117)ttG>ttT	p.L39F		NM_018702.3	NP_061172.1	Q9NS39	RED2_HUMAN	adenosine deaminase, RNA-specific, B2 (non-functional)	39					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.L39F(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)		GGAAGGTTGACAATATGCTTA	0.428																																						uc009xhq.2																			1	Substitution - Missense(1)		lung(1)	large_intestine(2)|central_nervous_system(1)	3						c.(115-117)TTG>TTT		adenosine deaminase, RNA-specific, B2							180.0	170.0	173.0					10																	1421339		2203	4300	6503	SO:0001583	missense	105				mRNA processing	mitochondrion|nucleus	adenosine deaminase activity|double-stranded RNA binding|metal ion binding|single-stranded RNA binding	g.chr10:1421339C>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.117G>T	10.37:g.1421339C>A	ENSP00000370713:p.Leu39Phe						p.L39F	NM_018702	NP_061172	Q9NS39	RED2_HUMAN		all cancers(11;0.0224)|GBM - Glioblastoma multiforme(2;0.0414)|Epithelial(11;0.165)	2	491	-		all_epithelial(10;0.059)|Colorectal(49;0.0815)	39					B2RPJ5|Q5VUT6|Q5VW42	Missense_Mutation	SNP	ENST00000381312.1	37	c.117G>T	CCDS7058.1	.	.	.	.	.	.	.	.	.	.	C	16.21	3.057516	0.55325	.	.	ENSG00000185736	ENST00000381312	T	0.27104	1.69	4.8	2.91	0.33838	.	0.095367	0.45361	D	0.000380	T	0.42086	0.1187	L	0.55990	1.75	0.80722	D	1	D	0.76494	0.999	D	0.87578	0.998	T	0.27468	-1.0073	10	0.62326	D	0.03	-19.1535	9.8096	0.40815	0.0:0.8259:0.0:0.1741	.	39	Q9NS39	RED2_HUMAN	F	39	ENSP00000370713:L39F	ENSP00000370713:L39F	L	-	3	2	ADARB2	1411339	1.000000	0.71417	0.998000	0.56505	0.602000	0.36980	3.031000	0.49728	1.141000	0.42275	0.313000	0.20887	TTG		PASS	0.428	ADARB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046426.1	NM_018702		11	52	11	52	---	---	---	---
PRKCQ	5588	broad.mit.edu	37	10	6506291	6506291	+	Missense_Mutation	SNP	C	C	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr10:6506291C>A	ENST00000263125.5	-	13	1528	c.1429G>T	c.(1429-1431)Gac>Tac	p.D477Y	PRKCQ_ENST00000539722.1_Missense_Mutation_p.D352Y|PRKCQ_ENST00000397176.2_Missense_Mutation_p.D477Y	NM_001282644.1|NM_006257.3	NP_001269573.1|NP_006248.1	Q04759	KPCT_HUMAN	protein kinase C, theta	477	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				apoptotic process (GO:0006915)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|Fc-epsilon receptor signaling pathway (GO:0038095)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|membrane protein ectodomain proteolysis (GO:0006509)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of T cell apoptotic process (GO:0070233)|phototransduction, visible light (GO:0007603)|platelet activation (GO:0030168)|positive regulation of interleukin-17 production (GO:0032740)|positive regulation of interleukin-2 biosynthetic process (GO:0045086)|positive regulation of interleukin-4 production (GO:0032753)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of T cell activation (GO:0050870)|positive regulation of T cell proliferation (GO:0042102)|positive regulation of T-helper 17 type immune response (GO:2000318)|positive regulation of T-helper 2 cell activation (GO:2000570)|protein ubiquitination (GO:0016567)|regulation of cell growth (GO:0001558)|regulation of platelet aggregation (GO:0090330)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|regulation of transcription, DNA-templated (GO:0006355)|rhodopsin mediated signaling pathway (GO:0016056)|T cell receptor signaling pathway (GO:0050852)	cytosol (GO:0005829)|immunological synapse (GO:0001772)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase C activity (GO:0004697)|protein serine/threonine kinase activity (GO:0004674)|ubiquitin-protein transferase activity (GO:0004842)	p.D477Y(1)		NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|liver(1)|lung(13)|ovary(4)|prostate(1)|skin(4)|stomach(2)	45					Tamoxifen(DB00675)	CTGGAAAGGTCGAACTTGTGG	0.428																																					Ovarian(50;572 1126 10530 25349 30594)	uc001ijj.1																			1	Substitution - Missense(1)		lung(1)	ovary(3)|lung(2)|large_intestine(1)	6						c.(1429-1431)GAC>TAC		protein kinase C, theta							270.0	279.0	276.0					10																	6506291		2203	4300	6503	SO:0001583	missense	5588				axon guidance|cellular component disassembly involved in apoptosis|intracellular signal transduction|membrane protein ectodomain proteolysis|platelet activation|regulation of cell growth|T cell receptor signaling pathway	cytosol	ATP binding|metal ion binding|protein binding|protein kinase C activity	g.chr10:6506291C>A	L07032	CCDS7079.1, CCDS55701.1, CCDS60482.1	10p15	2009-07-10			ENSG00000065675	ENSG00000065675	2.7.11.1		9410	protein-coding gene	gene with protein product		600448				8444877	Standard	NM_001282645		Approved		uc001ijj.2	Q04759	OTTHUMG00000017623	ENST00000263125.5:c.1429G>T	10.37:g.6506291C>A	ENSP00000263125:p.Asp477Tyr					PRKCQ_uc009xim.1_Missense_Mutation_p.D477Y|PRKCQ_uc001iji.1_Missense_Mutation_p.D510Y|PRKCQ_uc009xin.1_Missense_Mutation_p.D441Y|PRKCQ_uc010qax.1_Missense_Mutation_p.D352Y	p.D477Y	NM_006257	NP_006248	Q04759	KPCT_HUMAN			13	1504	-			477			Protein kinase.		B4DF52|Q14DH6|Q3MJF1|Q64FY5|Q9H508|Q9H549	Missense_Mutation	SNP	ENST00000263125.5	37	c.1429G>T	CCDS7079.1	.	.	.	.	.	.	.	.	.	.	C	16.13	3.037056	0.54896	.	.	ENSG00000065675	ENST00000263125;ENST00000397176;ENST00000539722	T;T;T	0.66995	-0.24;-0.24;-0.24	5.11	5.11	0.69529	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.147054	0.64402	D	0.000017	T	0.71829	0.3386	M	0.75264	2.295	0.80722	D	1	B;B;B;B	0.23937	0.013;0.094;0.026;0.003	B;B;B;B	0.31686	0.024;0.134;0.115;0.008	T	0.72883	-0.4157	10	0.87932	D	0	.	18.5498	0.91060	0.0:1.0:0.0:0.0	.	352;249;477;477	B4DF52;Q5JUN8;Q04759-2;Q04759	.;.;.;KPCT_HUMAN	Y	477;477;352	ENSP00000263125:D477Y;ENSP00000380361:D477Y;ENSP00000441752:D352Y	ENSP00000263125:D477Y	D	-	1	0	PRKCQ	6546297	1.000000	0.71417	0.915000	0.36163	0.726000	0.41606	7.519000	0.81809	2.369000	0.80426	0.563000	0.77884	GAC		PASS	0.428	PRKCQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046665.1	NM_006257		151	230	151	230	---	---	---	---
ITIH5	80760	broad.mit.edu	37	10	7608323	7608323	+	Missense_Mutation	SNP	C	C	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr10:7608323C>A	ENST00000256861.6	-	13	2275	c.2197G>T	c.(2197-2199)Ggc>Tgc	p.G733C	ITIH5_ENST00000397146.2_Intron|ITIH5_ENST00000446830.2_Missense_Mutation_p.G515C|ITIH5_ENST00000298441.6_Missense_Mutation_p.G519C	NM_030569.6	NP_085046.5	Q86UX2	ITIH5_HUMAN	inter-alpha-trypsin inhibitor heavy chain family, member 5	733					hyaluronan metabolic process (GO:0030212)	extracellular region (GO:0005576)	serine-type endopeptidase inhibitor activity (GO:0004867)	p.G733C(1)		NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|kidney(6)|large_intestine(21)|lung(25)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|urinary_tract(3)	75						TTCTTGTGGCCATTTGGAGGG	0.502																																						uc001ijq.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|central_nervous_system(2)	4						c.(2197-2199)GGC>TGC		inter-alpha trypsin inhibitor heavy chain							93.0	86.0	88.0					10																	7608323		2203	4300	6503	SO:0001583	missense	80760				hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity	g.chr10:7608323C>A			10p14	2011-10-26	2011-10-26		ENSG00000123243	ENSG00000123243			21449	protein-coding gene	gene with protein product		609783	"""inter-alpha (globulin) inhibitor H5"""			14744536	Standard	NM_001001851		Approved	MGC10848	uc021pmv.1	Q86UX2	OTTHUMG00000017635	ENST00000256861.6:c.2197G>T	10.37:g.7608323C>A	ENSP00000256861:p.Gly733Cys					ITIH5_uc001ijp.2_Missense_Mutation_p.G519C	p.G733C	NM_030569	NP_085046	Q86UX2	ITIH5_HUMAN			13	2276	-			733					Q5T664|Q5T665|Q5T666|Q6AI60|Q6UXB7|Q8TF48|Q8WYV2|Q96K70	Missense_Mutation	SNP	ENST00000256861.6	37	c.2197G>T		.	.	.	.	.	.	.	.	.	.	C	14.41	2.526876	0.44969	.	.	ENSG00000123243	ENST00000256861;ENST00000298441;ENST00000446830	T;T;T	0.02280	4.56;4.36;4.37	5.84	5.84	0.93424	Inter-alpha-trypsin inhibitor heavy chain, C-terminal (1);	0.040633	0.85682	D	0.000000	T	0.14917	0.0360	.	.	.	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	T	0.00020	-1.2352	9	0.87932	D	0	-28.4885	20.1165	0.97939	0.0:1.0:0.0:0.0	.	733;519	Q86UX2;Q86UX2-3	ITIH5_HUMAN;.	C	733;519;515	ENSP00000256861:G733C;ENSP00000298441:G519C;ENSP00000387969:G515C	ENSP00000256861:G733C	G	-	1	0	ITIH5	7648329	1.000000	0.71417	0.431000	0.26735	0.056000	0.15407	5.621000	0.67743	2.746000	0.94184	0.655000	0.94253	GGC		PASS	0.502	ITIH5-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000046688.1	NM_030569		18	22	18	22	---	---	---	---
GATA3	2625	broad.mit.edu	37	10	8097818	8097818	+	Nonsense_Mutation	SNP	C	C	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr10:8097818C>A	ENST00000346208.3	+	2	655	c.200C>A	c.(199-201)tCg>tAg	p.S67*	RP11-379F12.4_ENST00000418270.1_lincRNA|GATA3-AS1_ENST00000355358.1_lincRNA|RP11-379F12.3_ENST00000458727.1_lincRNA|GATA3_ENST00000379328.3_Nonsense_Mutation_p.S67*			P23771	GATA3_HUMAN	GATA binding protein 3	67					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.S67*(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						TACGGAAACTCGGTCAGGGCC	0.687			"""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 - Nonsense(1)		lung(1)	breast(17)|ovary(3)|central_nervous_system(2)	22						c.(199-201)TCG>TAG		GATA binding protein 3 isoform 2							30.0	27.0	28.0					10																	8097818		2196	4294	6490	SO:0001587	stop_gained	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.chr10:8097818C>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.200C>A	10.37:g.8097818C>A	ENSP00000341619:p.Ser67*					FLJ45983_uc010qbe.1_5'Flank|FLJ45983_uc001ijx.1_5'Flank|FLJ45983_uc010qbf.1_5'Flank|FLJ45983_uc010qbg.1_5'Flank|FLJ45983_uc001ijy.1_5'Flank|GATA3_uc001ijz.2_Nonsense_Mutation_p.S67*	p.S67*	NM_002051	NP_002042	P23771	GATA3_HUMAN			2	757	+			67					Q5VWG7|Q5VWG8|Q96J16	Nonsense_Mutation	SNP	ENST00000346208.3	37	c.200C>A	CCDS7083.1	.	.	.	.	.	.	.	.	.	.	C	41	9.057824	0.99051	.	.	ENSG00000107485	ENST00000379328;ENST00000544011;ENST00000346208	.	.	.	4.83	4.83	0.62350	.	0.564959	0.18770	N	0.131644	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-14.8722	16.8947	0.86097	0.0:1.0:0.0:0.0	.	.	.	.	X	67	.	.	S	+	2	0	GATA3	8137824	1.000000	0.71417	1.000000	0.80357	0.919000	0.55068	7.209000	0.77916	2.211000	0.71520	0.561000	0.74099	TCG		PASS	0.687	GATA3-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000046719.1	NM_001002295		3	5	3	5	---	---	---	---
CDNF	441549	broad.mit.edu	37	10	14867509	14867509	+	Missense_Mutation	SNP	C	C	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr10:14867509C>A	ENST00000378442.1	-	5	551	c.48G>T	c.(46-48)aaG>aaT	p.K16N	CDNF_ENST00000378441.2_Intron			Q49AH0	CDNF_HUMAN	cerebral dopamine neurotrophic factor	118						extracellular region (GO:0005576)		p.K118N(1)		breast(2)|large_intestine(2)|lung(1)	5						GGCTATCCAACTTCTTCAGCT	0.468																																						uc001inb.1																			1	Substitution - Missense(1)		lung(1)		0						c.(352-354)AAG>AAT		arginine-rich, mutated in early stage							163.0	156.0	158.0					10																	14867509		2203	4300	6503	SO:0001583	missense	441549					extracellular region	growth factor activity	g.chr10:14867509C>A	BC037872	CCDS31148.1	10p13	2009-06-04	2009-06-04	2009-06-04	ENSG00000185267	ENSG00000185267			24913	protein-coding gene	gene with protein product	"""conserved dopamine neurotrophic factor"""	611233	"""arginine-rich, mutated in early stage tumors-like 1"""	ARMETL1		17611540	Standard	NM_001029954		Approved		uc001inb.1	Q49AH0	OTTHUMG00000017713	ENST00000378442.1:c.48G>T	10.37:g.14867509C>A	ENSP00000367703:p.Lys16Asn					CDNF_uc010qbv.1_Missense_Mutation_p.K118N|CDNF_uc001inc.1_Missense_Mutation_p.K9N	p.K118N	NM_001029954	NP_001025125	Q49AH0	CDNF_HUMAN			3	392	-			118					A2RUU0|B4DVW3	Missense_Mutation	SNP	ENST00000378442.1	37	c.354G>T		.	.	.	.	.	.	.	.	.	.	C	22.6	4.313852	0.81358	.	.	ENSG00000185267	ENST00000378442;ENST00000465530	.	.	.	6.11	4.27	0.50696	.	0.178274	0.47852	D	0.000212	T	0.77948	0.4207	M	0.84219	2.685	0.40773	D	0.983102	D	0.71674	0.998	D	0.74023	0.982	T	0.79909	-0.1604	9	0.72032	D	0.01	-27.7903	9.8989	0.41335	0.0:0.781:0.0:0.219	.	118	Q49AH0	CDNF_HUMAN	N	16;118	.	ENSP00000367703:K16N	K	-	3	2	CDNF	14907515	1.000000	0.71417	0.999000	0.59377	0.978000	0.69477	2.197000	0.42696	0.916000	0.36871	0.609000	0.83330	AAG		PASS	0.468	CDNF-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000046919.1	NM_001029954		81	115	81	115	---	---	---	---
FAM171A1	221061	broad.mit.edu	37	10	15296871	15296871	+	Silent	SNP	C	C	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr10:15296871C>A	ENST00000378116.4	-	4	432	c.426G>T	c.(424-426)cgG>cgT	p.R142R		NM_001010924.1	NP_001010924.1	Q5VUB5	F1711_HUMAN	family with sequence similarity 171, member A1	142						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)		p.R142R(2)		breast(6)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	52						GAGGCTGTGGCCGGGCACCTG	0.542																																						uc001iob.2																			2	Substitution - coding silent(2)		lung(2)	ovary(2)|breast(1)|skin(1)	4						c.(424-426)CGG>CGT		hypothetical protein LOC221061 precursor							43.0	43.0	43.0					10																	15296871		2203	4300	6503	SO:0001819	synonymous_variant	221061					integral to membrane		g.chr10:15296871C>A	AK022946	CCDS31154.1	10p13	2008-06-16	2008-06-16	2008-06-16	ENSG00000148468	ENSG00000148468			23522	protein-coding gene	gene with protein product			"""chromosome 10 open reading frame 38"""	C10orf38			Standard	NM_001010924		Approved	FLJ12884	uc001iob.3	Q5VUB5	OTTHUMG00000017732	ENST00000378116.4:c.426G>T	10.37:g.15296871C>A							p.R142R	NM_001010924	NP_001010924	Q5VUB5	F1711_HUMAN			4	433	-			142			Extracellular (Potential).		D3DRT9|Q32M49|Q8N4I0	Silent	SNP	ENST00000378116.4	37	c.426G>T	CCDS31154.1																																																																																				PASS	0.542	FAM171A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046984.1	XM_167709		9	30	9	30	---	---	---	---
CUBN	8029	broad.mit.edu	37	10	16893320	16893320	+	Missense_Mutation	SNP	C	C	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr10:16893320C>A	ENST00000377833.4	-	60	9642	c.9577G>T	c.(9577-9579)Gta>Tta	p.V3193L		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	3193	CUB 24. {ECO:0000255|PROSITE- ProRule:PRU00059}.				cholesterol metabolic process (GO:0008203)|cobalamin metabolic process (GO:0009235)|cobalamin transport (GO:0015889)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|receptor-mediated endocytosis (GO:0006898)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|tissue homeostasis (GO:0001894)|vitamin D metabolic process (GO:0042359)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|extrinsic component of external side of plasma membrane (GO:0031232)|Golgi apparatus (GO:0005794)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|cobalamin binding (GO:0031419)|protein homodimerization activity (GO:0042803)|receptor activity (GO:0004872)|transporter activity (GO:0005215)	p.V3193L(1)		breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	ACTTTGTTTACAGGTGCAATT	0.373																																						uc001ioo.2																			1	Substitution - Missense(1)		lung(1)	ovary(9)|breast(4)|pancreas(2)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)|kidney(1)	19						c.(9577-9579)GTA>TTA		cubilin precursor	Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)						115.0	110.0	111.0					10																	16893320		2203	4300	6503	SO:0001583	missense	8029				cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity	g.chr10:16893320C>A	AF034611	CCDS7113.1	10p12	2014-09-17			ENSG00000107611	ENSG00000107611			2548	protein-coding gene	gene with protein product		602997		MGA1		9572993, 9478979	Standard	NM_001081		Approved	IFCR, gp280	uc001ioo.3	O60494	OTTHUMG00000017741	ENST00000377833.4:c.9577G>T	10.37:g.16893320C>A	ENSP00000367064:p.Val3193Leu					CUBN_uc009xjq.1_RNA	p.V3193L	NM_001081	NP_001072	O60494	CUBN_HUMAN			60	9629	-			3193			CUB 24.		B0YIZ4|Q5VTA6|Q96RU9	Missense_Mutation	SNP	ENST00000377833.4	37	c.9577G>T	CCDS7113.1	.	.	.	.	.	.	.	.	.	.	C	11.39	1.625724	0.28889	.	.	ENSG00000107611	ENST00000377833;ENST00000545090	T	0.17370	2.28	5.26	1.12	0.20585	CUB (5);	0.450065	0.16233	N	0.223501	T	0.12475	0.0303	L	0.33624	1.015	0.27471	N	0.952874	B	0.30914	0.3	B	0.36989	0.238	T	0.27606	-1.0069	10	0.26408	T	0.33	.	5.5624	0.17152	0.0:0.5179:0.1326:0.3495	.	3193	O60494	CUBN_HUMAN	L	3193;34	ENSP00000367064:V3193L	ENSP00000367064:V3193L	V	-	1	0	CUBN	16933326	0.000000	0.05858	0.848000	0.33437	0.786000	0.44442	-0.204000	0.09425	0.228000	0.21019	0.313000	0.20887	GTA		PASS	0.373	CUBN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047009.1	NM_001081		28	99	28	99	---	---	---	---
CUBN	8029	broad.mit.edu	37	10	16930512	16930512	+	Missense_Mutation	SNP	G	G	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr10:16930512G>T	ENST00000377833.4	-	56	8874	c.8809C>A	c.(8809-8811)Cca>Aca	p.P2937T		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	2937	CUB 22. {ECO:0000255|PROSITE- ProRule:PRU00059}.				cholesterol metabolic process (GO:0008203)|cobalamin metabolic process (GO:0009235)|cobalamin transport (GO:0015889)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|receptor-mediated endocytosis (GO:0006898)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|tissue homeostasis (GO:0001894)|vitamin D metabolic process (GO:0042359)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|extrinsic component of external side of plasma membrane (GO:0031232)|Golgi apparatus (GO:0005794)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|cobalamin binding (GO:0031419)|protein homodimerization activity (GO:0042803)|receptor activity (GO:0004872)|transporter activity (GO:0005215)	p.P2937T(1)		breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	TATTGTTTTGGGTAATTTGGA	0.388																																						uc001ioo.2																			1	Substitution - Missense(1)		lung(1)	ovary(9)|breast(4)|pancreas(2)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)|kidney(1)	19						c.(8809-8811)CCA>ACA		cubilin precursor	Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)						212.0	188.0	196.0					10																	16930512		2203	4300	6503	SO:0001583	missense	8029				cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity	g.chr10:16930512G>T	AF034611	CCDS7113.1	10p12	2014-09-17			ENSG00000107611	ENSG00000107611			2548	protein-coding gene	gene with protein product		602997		MGA1		9572993, 9478979	Standard	NM_001081		Approved	IFCR, gp280	uc001ioo.3	O60494	OTTHUMG00000017741	ENST00000377833.4:c.8809C>A	10.37:g.16930512G>T	ENSP00000367064:p.Pro2937Thr					CUBN_uc009xjq.1_RNA|CUBN_uc009xjr.1_Missense_Mutation_p.P293T	p.P2937T	NM_001081	NP_001072	O60494	CUBN_HUMAN			56	8861	-			2937			CUB 22.		B0YIZ4|Q5VTA6|Q96RU9	Missense_Mutation	SNP	ENST00000377833.4	37	c.8809C>A	CCDS7113.1	.	.	.	.	.	.	.	.	.	.	G	17.61	3.433578	0.62955	.	.	ENSG00000107611	ENST00000377833	T	0.33438	1.41	5.89	5.89	0.94794	CUB (5);	0.000000	0.45126	D	0.000391	T	0.69708	0.3141	H	0.95745	3.715	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.76476	-0.2945	10	0.49607	T	0.09	.	19.8517	0.96743	0.0:0.0:1.0:0.0	.	2937	O60494	CUBN_HUMAN	T	2937	ENSP00000367064:P2937T	ENSP00000367064:P2937T	P	-	1	0	CUBN	16970518	1.000000	0.71417	1.000000	0.80357	0.396000	0.30629	6.690000	0.74567	2.793000	0.96121	0.561000	0.74099	CCA		PASS	0.388	CUBN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047009.1	NM_001081		30	148	30	148	---	---	---	---
MYO3A	53904	broad.mit.edu	37	10	26446322	26446322	+	Missense_Mutation	SNP	G	G	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr10:26446322G>T	ENST00000265944.5	+	26	3043	c.2877G>T	c.(2875-2877)caG>caT	p.Q959H	MYO3A_ENST00000543632.1_Intron	NM_017433.4	NP_059129.3	Q8NEV4	MYO3A_HUMAN	myosin IIIA	959	Myosin motor.				ATP catabolic process (GO:0006200)|inner ear development (GO:0048839)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of filopodium assembly (GO:0051491)|protein autophosphorylation (GO:0046777)|response to stimulus (GO:0050896)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|filamentous actin (GO:0031941)|filopodium (GO:0030175)|filopodium tip (GO:0032433)|myosin complex (GO:0016459)|photoreceptor inner segment (GO:0001917)|stereocilium bundle tip (GO:0032426)	actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)|plus-end directed microfilament motor activity (GO:0060002)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.Q959H(1)		NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	146						GTGAGCGTCAGGCAAGAAAAT	0.413																																						uc001isn.2																			1	Substitution - Missense(1)		lung(1)	ovary(6)|stomach(3)|lung(3)|central_nervous_system(2)|breast(1)|skin(1)|kidney(1)|pancreas(1)	18						c.(2875-2877)CAG>CAT		myosin IIIA							138.0	131.0	133.0					10																	26446322		2203	4300	6503	SO:0001583	missense	53904				protein autophosphorylation|response to stimulus|sensory perception of sound|visual perception	cytoplasm|filamentous actin|filopodium|myosin complex	actin binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|plus-end directed microfilament motor activity|protein serine/threonine kinase activity	g.chr10:26446322G>T	AF229172	CCDS7148.1	10p11.1	2011-09-27	2004-05-19		ENSG00000095777	ENSG00000095777		"""Myosins / Myosin superfamily : Class III"""	7601	protein-coding gene	gene with protein product		606808	"""deafness, autosomal recessive 30"""	DFNB30		10936054	Standard	NM_017433		Approved		uc001isn.2	Q8NEV4	OTTHUMG00000017837	ENST00000265944.5:c.2877G>T	10.37:g.26446322G>T	ENSP00000265944:p.Gln959His					MYO3A_uc009xko.1_Missense_Mutation_p.Q959H|MYO3A_uc009xkp.1_RNA|MYO3A_uc009xkq.1_Intron	p.Q959H	NM_017433	NP_059129	Q8NEV4	MYO3A_HUMAN			26	3237	+			959			Myosin head-like.		Q4G0X2|Q5VZ28|Q8WX17|Q9NYS8	Missense_Mutation	SNP	ENST00000265944.5	37	c.2877G>T	CCDS7148.1	.	.	.	.	.	.	.	.	.	.	G	14.75	2.628785	0.46944	.	.	ENSG00000095777	ENST00000265944	D	0.87729	-2.29	5.31	4.4	0.53042	Myosin head, motor domain (2);	0.107909	0.64402	D	0.000004	D	0.85919	0.5809	M	0.63428	1.95	0.80722	D	1	B	0.25206	0.12	B	0.27076	0.076	D	0.84412	0.0566	10	0.66056	D	0.02	.	14.5518	0.68073	0.0718:0.0:0.9282:0.0	.	959	Q8NEV4	MYO3A_HUMAN	H	959	ENSP00000265944:Q959H	ENSP00000265944:Q959H	Q	+	3	2	MYO3A	26486328	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.412000	0.34714	1.345000	0.45676	0.655000	0.94253	CAG		PASS	0.413	MYO3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047259.1	NM_017433		56	94	56	94	---	---	---	---
APBB1IP	54518	broad.mit.edu	37	10	26830589	26830589	+	Nonsense_Mutation	SNP	A	A	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr10:26830589A>T	ENST00000376236.4	+	11	1578	c.1123A>T	c.(1123-1125)Aaa>Taa	p.K375*		NM_019043.3	NP_061916.3	Q7Z5R6	AB1IP_HUMAN	amyloid beta (A4) precursor protein-binding, family B, member 1 interacting protein	375	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				blood coagulation (GO:0007596)|platelet activation (GO:0030168)|signal transduction (GO:0007165)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|plasma membrane (GO:0005886)		p.K375*(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(27)|skin(7)|upper_aerodigestive_tract(1)	45						AATGAAATATAAAGCGCCCAC	0.303																																						uc001iss.2																			1	Substitution - Nonsense(1)		lung(1)	lung(4)|skin(2)|central_nervous_system(1)	7						c.(1123-1125)AAA>TAA		amyloid beta (A4) precursor protein-binding,							74.0	76.0	75.0					10																	26830589		2202	4300	6502	SO:0001587	stop_gained	54518				blood coagulation|signal transduction	cytoskeleton|cytosol|focal adhesion|lamellipodium		g.chr10:26830589A>T	AB085852	CCDS31167.1	10p12.1	2013-01-10			ENSG00000077420	ENSG00000077420		"""Pleckstrin homology (PH) domain containing"""	17379	protein-coding gene	gene with protein product	"""Rap1-GTP-interacting adaptor molecule"""	609036				9407065	Standard	NM_019043		Approved	INAG1, RIAM	uc001iss.3	Q7Z5R6	OTTHUMG00000017841	ENST00000376236.4:c.1123A>T	10.37:g.26830589A>T	ENSP00000365411:p.Lys375*					APBB1IP_uc009xks.1_Nonsense_Mutation_p.K375*	p.K375*	NM_019043	NP_061916	Q7Z5R6	AB1IP_HUMAN			11	1444	+			375			PH.		Q8IWS8|Q8IYL7|Q8IZZ7	Nonsense_Mutation	SNP	ENST00000376236.4	37	c.1123A>T	CCDS31167.1	.	.	.	.	.	.	.	.	.	.	A	42	9.381486	0.99155	.	.	ENSG00000077420	ENST00000445780;ENST00000376236	.	.	.	5.87	4.72	0.59763	.	0.039630	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	13.3971	0.60861	0.8686:0.1314:0.0:0.0	.	.	.	.	X	375	.	ENSP00000365411:K375X	K	+	1	0	APBB1IP	26870595	1.000000	0.71417	0.929000	0.37066	0.795000	0.44927	9.296000	0.96104	1.123000	0.41961	0.533000	0.62120	AAA		PASS	0.303	APBB1IP-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047270.1	NM_019043		14	59	14	59	---	---	---	---
PTCHD3	374308	broad.mit.edu	37	10	27702954	27702954	+	Missense_Mutation	SNP	G	G	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr10:27702954G>A	ENST00000438700.3	-	1	343	c.226C>T	c.(226-228)Ccc>Tcc	p.P76S		NM_001034842.3	NP_001030014.2	Q3KNS1	PTHD3_HUMAN	patched domain containing 3	76					spermatid development (GO:0007286)	integral component of membrane (GO:0016021)|sperm midpiece (GO:0097225)	hedgehog receptor activity (GO:0008158)	p.P76S(1)		NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	55						GACGGCCGGGGGGGTGCATCG	0.721																																						uc001itu.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|pancreas(1)|skin(1)	4						c.(226-228)CCC>TCC		patched domain containing 3							24.0	31.0	29.0					10																	27702954		2190	4279	6469	SO:0001583	missense	374308				spermatid development	integral to membrane	hedgehog receptor activity	g.chr10:27702954G>A	AK126025	CCDS31173.1	10p12.1	2006-05-26			ENSG00000182077	ENSG00000182077			24776	protein-coding gene	gene with protein product		611791					Standard	NM_001034842		Approved	FLJ44037, PTR	uc001itu.2	Q3KNS1	OTTHUMG00000017860	ENST00000438700.3:c.226C>T	10.37:g.27702954G>A	ENSP00000417658:p.Pro76Ser						p.P76S	NM_001034842	NP_001030014	Q3KNS1	PTHD3_HUMAN			1	344	-			76					I3L499|Q6ZU28	Missense_Mutation	SNP	ENST00000438700.3	37	c.226C>T	CCDS31173.1	.	.	.	.	.	.	.	.	.	.	G	12.91	2.080689	0.36758	.	.	ENSG00000182077	ENST00000438700	D	0.92048	-2.96	2.57	-2.49	0.06403	.	.	.	.	.	D	0.82710	0.5096	N	0.22421	0.69	0.09310	N	1	B	0.18310	0.027	B	0.14578	0.011	T	0.68416	-0.5414	9	0.62326	D	0.03	.	4.504	0.11878	0.2106:0.2054:0.584:0.0	.	76	Q3KNS1	PTHD3_HUMAN	S	76	ENSP00000417658:P76S	ENSP00000417658:P76S	P	-	1	0	PTCHD3	27742960	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.626000	0.02035	-0.779000	0.04560	-0.424000	0.05967	CCC		PASS	0.721	PTCHD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047325.3	XM_370541		10	52	10	52	---	---	---	---
C10orf10	11067	broad.mit.edu	37	10	45473174	45473174	+	Missense_Mutation	SNP	A	A	G	rs200209562		TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr10:45473174A>G	ENST00000298295.3	-	2	522	c.305T>C	c.(304-306)gTg>gCg	p.V102A	RASSF4_ENST00000340258.5_Intron|C10orf10_ENST00000496638.1_Intron|RASSF4_ENST00000334940.6_Intron|RASSF4_ENST00000374417.2_Intron|RASSF4_ENST00000472561.1_Intron	NM_007021.3	NP_008952.1	Q9NTK1	DEPP_HUMAN	chromosome 10 open reading frame 10	102						mitochondrion (GO:0005739)		p.V102A(1)		lung(1)	1						CAGGGGGTCCACAGTATCAGC	0.657																																						uc001jbr.3																			1	Substitution - Missense(1)		lung(1)		0						c.(304-306)GTG>GCG		fasting-induced protein							33.0	36.0	35.0					10																	45473174		2203	4300	6503	SO:0001583	missense	11067					mitochondrion		g.chr10:45473174A>G	AB022718	CCDS7210.1	10q11.21	2014-07-31			ENSG00000165507	ENSG00000165507			23355	protein-coding gene	gene with protein product	"""decidual protein induced by progesterone"", ""fasting induced"", ""fat-specific expressed gene"""	611309				24530860, 19937567, 16123073	Standard	NM_007021		Approved	DEPP, FIG, Fseg	uc001jbr.4	Q9NTK1	OTTHUMG00000018063	ENST00000298295.3:c.305T>C	10.37:g.45473174A>G	ENSP00000298295:p.Val102Ala					RASSF4_uc001jbo.2_Intron|RASSF4_uc001jbp.2_Intron|RASSF4_uc009xmn.2_Intron|RASSF4_uc001jbq.2_Intron	p.V102A	NM_007021	NP_008952	Q9NTK1	DEPP_HUMAN			2	595	-			102					B2R6A1|O94997|Q5T735|Q76MX8	Missense_Mutation	SNP	ENST00000298295.3	37	c.305T>C	CCDS7210.1	.	.	.	.	.	.	.	.	.	.	A	11.25	1.582328	0.28180	.	.	ENSG00000165507	ENST00000298295	T	0.39997	1.05	5.15	-2.35	0.06684	.	1.032510	0.07713	N	0.942444	T	0.14141	0.0342	N	0.08118	0	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.25398	-1.0133	10	0.02654	T	1	-0.4911	0.2418	0.00193	0.3116:0.1375:0.2558:0.2951	.	102	Q9NTK1	DEPP_HUMAN	A	102	ENSP00000298295:V102A	ENSP00000298295:V102A	V	-	2	0	C10orf10	44793180	0.000000	0.05858	0.000000	0.03702	0.473000	0.32948	-0.210000	0.09345	-0.291000	0.09012	0.533000	0.62120	GTG		PASS	0.657	C10orf10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047758.1	NM_007021		26	48	26	48	---	---	---	---
GDF10	2662	broad.mit.edu	37	10	48429028	48429028	+	Silent	SNP	G	G	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr10:48429028G>T	ENST00000224605.2	-	2	1123	c.858C>A	c.(856-858)ccC>ccA	p.P286P		NM_004962.3	NP_004953.1	P55107	BMP3B_HUMAN	growth differentiation factor 10	286					fat cell differentiation (GO:0045444)|growth (GO:0040007)|skeletal system development (GO:0001501)|transforming growth factor beta receptor signaling pathway (GO:0007179)	extracellular space (GO:0005615)	growth factor activity (GO:0008083)	p.P286P(1)		central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(20)|skin(1)	31						GGCGCACGCGGGGGTCCGCTG	0.721																																						uc001jfb.2																			1	Substitution - coding silent(1)		lung(1)	lung(1)|central_nervous_system(1)	2						c.(856-858)CCC>CCA		growth differentiation factor 10 precursor							6.0	8.0	8.0					10																	48429028		2082	4102	6184	SO:0001819	synonymous_variant	2662				growth|skeletal system development|transforming growth factor beta receptor signaling pathway	extracellular space	cytokine activity|growth factor activity	g.chr10:48429028G>T	L42113	CCDS73117.1	10q11.22	2014-04-10			ENSG00000107623	ENSG00000266524		"""Endogenous ligands"""	4215	protein-coding gene	gene with protein product		601361				8679252	Standard	NM_004962		Approved	BMP-3b	uc001jfb.3	P55107	OTTHUMG00000188319	ENST00000224605.2:c.858C>A	10.37:g.48429028G>T						GDF10_uc009xnp.2_Silent_p.P285P|GDF10_uc009xnq.1_Silent_p.P286P	p.P286P	NM_004962	NP_004953	P55107	BMP3B_HUMAN			2	1314	-			286					Q5VSQ8|Q9UCX6	Silent	SNP	ENST00000224605.2	37	c.858C>A	CCDS7220.1																																																																																				PASS	0.721	GDF10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047884.1	NM_004962		7	4	7	4	---	---	---	---
C10orf71	118461	broad.mit.edu	37	10	50530616	50530616	+	Missense_Mutation	SNP	C	C	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr10:50530616C>A	ENST00000374144.3	+	3	314	c.26C>A	c.(25-27)aCa>aAa	p.T9K	C10orf71_ENST00000323868.4_Missense_Mutation_p.T9K			Q711Q0	CJ071_HUMAN	chromosome 10 open reading frame 71	9								p.T9K(2)		endometrium(1)	1						AAGAAGTGCACAGACGCGTTC	0.532																																						uc010qgp.1																			2	Substitution - Missense(2)		lung(2)		0						c.(25-27)ACA>AAA		hypothetical protein LOC118461 isoform 2							36.0	38.0	38.0					10																	50530616		2149	4248	6397	SO:0001583	missense	118461							g.chr10:50530616C>A	AL833265	CCDS44387.1	10q11.23	2012-05-31			ENSG00000177354	ENSG00000177354			26973	protein-coding gene	gene with protein product							Standard	NM_001135196		Approved	FLJ45913	uc021pqa.2	Q711Q0	OTTHUMG00000018190	ENST00000374144.3:c.26C>A	10.37:g.50530616C>A	ENSP00000363259:p.Thr9Lys						p.T9K	NM_199459	NP_955629	Q711Q0	CJ071_HUMAN			3	365	+			9					A0AVL8	Missense_Mutation	SNP	ENST00000374144.3	37	c.26C>A	CCDS44387.1	.	.	.	.	.	.	.	.	.	.	C	16.35	3.097405	0.56075	.	.	ENSG00000177354	ENST00000323868;ENST00000374144	T;T	0.18810	2.19;3.34	5.13	4.23	0.50019	.	0.410140	0.20644	N	0.088347	T	0.34890	0.0913	L	0.56769	1.78	0.22424	N	0.999116	D	0.56746	0.977	P	0.55923	0.787	T	0.11916	-1.0568	10	0.66056	D	0.02	.	11.9798	0.53113	0.0:0.9188:0.0:0.0812	.	9	Q711Q0-3	.	K	9	ENSP00000318713:T9K;ENSP00000363259:T9K	ENSP00000318713:T9K	T	+	2	0	C10orf71	50200622	0.002000	0.14202	0.930000	0.37139	0.865000	0.49528	0.441000	0.21611	1.168000	0.42723	0.557000	0.71058	ACA		PASS	0.532	C10orf71-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047984.2	NM_199459		7	17	7	17	---	---	---	---
PCDH15	65217	broad.mit.edu	37	10	55780053	55780053	+	Missense_Mutation	SNP	C	C	G			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr10:55780053C>G	ENST00000320301.6	-	20	3044	c.2650G>C	c.(2650-2652)Gca>Cca	p.A884P	PCDH15_ENST00000395438.1_Missense_Mutation_p.A884P|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000409834.1_Missense_Mutation_p.A495P|PCDH15_ENST00000395432.2_Missense_Mutation_p.A847P|PCDH15_ENST00000395430.1_Missense_Mutation_p.A884P|PCDH15_ENST00000414778.1_Missense_Mutation_p.A889P|PCDH15_ENST00000395446.1_Intron|PCDH15_ENST00000373955.1_Missense_Mutation_p.A884P|PCDH15_ENST00000373957.3_Intron|PCDH15_ENST00000361849.3_Missense_Mutation_p.A884P|PCDH15_ENST00000437009.1_Missense_Mutation_p.A813P|PCDH15_ENST00000395445.1_Missense_Mutation_p.A891P|PCDH15_ENST00000373965.2_Missense_Mutation_p.A891P|PCDH15_ENST00000395433.1_Missense_Mutation_p.A862P	NM_033056.3	NP_149045.3	Q96QU1	PCD15_HUMAN	protocadherin-related 15	884	Cadherin 8. {ECO:0000255|PROSITE- ProRule:PRU00043}.				equilibrioception (GO:0050957)|homophilic cell adhesion (GO:0007156)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)|synapse (GO:0045202)	calcium ion binding (GO:0005509)	p.A884P(2)|p.A889P(2)		NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				TCTGGAAATGCCTCATAATCT	0.393										HNSCC(58;0.16)																												uc001jju.1																			4	Substitution - Missense(4)		lung(4)	pancreas(5)|ovary(4)|upper_aerodigestive_tract(2)|skin(2)	13						c.(2650-2652)GCA>CCA		protocadherin 15 isoform CD1-4 precursor							169.0	160.0	163.0					10																	55780053		2203	4300	6503	SO:0001583	missense	65217				equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding	g.chr10:55780053C>G	AY029205	CCDS7248.1, CCDS44400.1, CCDS44401.1, CCDS44403.1, CCDS44404.1, CCDS73134.1, CCDS73135.1, CCDS73136.1, CCDS73137.1, CCDS73138.1	10q21.1	2013-01-08	2010-01-25		ENSG00000150275	ENSG00000150275		"""Cadherins / Cadherin-related"""	14674	protein-coding gene	gene with protein product	"""cadherin-related family member 15"""	605514	"""deafness, autosomal recessive 23"", ""protocadherin 15"""	USH1F, DFNB23		11398101, 14570705	Standard	NM_033056		Approved	CDHR15	uc010qhy.1	Q96QU1	OTTHUMG00000018259	ENST00000320301.6:c.2650G>C	10.37:g.55780053C>G	ENSP00000322604:p.Ala884Pro	HNSCC(58;0.16)				PCDH15_uc010qhq.1_Missense_Mutation_p.A889P|PCDH15_uc010qhr.1_Missense_Mutation_p.A884P|PCDH15_uc010qhs.1_Missense_Mutation_p.A896P|PCDH15_uc010qht.1_Missense_Mutation_p.A891P|PCDH15_uc010qhu.1_Missense_Mutation_p.A884P|PCDH15_uc001jjv.1_Intron|PCDH15_uc010qhv.1_Missense_Mutation_p.A884P|PCDH15_uc010qhw.1_Missense_Mutation_p.A847P|PCDH15_uc010qhx.1_Missense_Mutation_p.A813P|PCDH15_uc010qhy.1_Missense_Mutation_p.A889P|PCDH15_uc010qhz.1_Missense_Mutation_p.A884P|PCDH15_uc010qia.1_Missense_Mutation_p.A862P|PCDH15_uc010qib.1_Missense_Mutation_p.A862P|PCDH15_uc001jjw.2_Missense_Mutation_p.A884P	p.A884P	NM_033056	NP_149045	Q96QU1	PCD15_HUMAN			20	3045	-		Melanoma(3;0.117)|Lung SC(717;0.238)	884			Extracellular (Potential).|Cadherin 8.		A6NL19|C6ZEF5|C6ZEF6|C6ZEF7|Q5VY38|Q5VY39|Q6TRH8|Q8NDB9|Q96QT8	Missense_Mutation	SNP	ENST00000320301.6	37	c.2650G>C	CCDS7248.1	.	.	.	.	.	.	.	.	.	.	C	20.9	4.060333	0.76074	.	.	ENSG00000150275	ENST00000373965;ENST00000414778;ENST00000455746;ENST00000395438;ENST00000409834;ENST00000395445;ENST00000395432;ENST00000361849;ENST00000395433;ENST00000320301;ENST00000395430;ENST00000417177;ENST00000437009;ENST00000373955	T;T;T;T;T;T;T;T;T;T;T;T	0.52754	0.65;0.65;0.65;0.65;0.65;0.65;0.65;0.65;0.65;0.65;0.65;0.65	6.06	2.81	0.32909	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.61763	0.2373	M	0.71871	2.18	0.39399	D	0.966557	D;P;P;B;P;P;D;P;P;P;P;B;B;P	0.53619	0.961;0.758;0.758;0.034;0.915;0.916;0.961;0.637;0.853;0.853;0.758;0.086;0.208;0.758	P;P;P;B;P;P;P;B;P;P;B;B;B;P	0.57720	0.826;0.555;0.555;0.071;0.756;0.653;0.826;0.351;0.646;0.646;0.356;0.244;0.207;0.555	T	0.67964	-0.5534	9	0.62326	D	0.03	.	13.8	0.63194	0.5591:0.4409:0.0:0.0	.	862;884;884;889;813;847;884;884;891;891;884;889;884;884	A2A3E8;E7EMG4;A2A3E7;C9JIG1;E7EM53;E7EMG0;A2A3E6;A2A3E3;C6ZEF5;A2A3E2;C6ZEF7;C9J4F3;Q96QU1-3;Q96QU1	.;.;.;.;.;.;.;.;.;.;.;.;.;PCD15_HUMAN	P	891;889;884;884;495;891;847;884;862;884;884;889;813;884	ENSP00000363076:A891P;ENSP00000410304:A889P;ENSP00000378826:A884P;ENSP00000386693:A495P;ENSP00000378832:A891P;ENSP00000378820:A847P;ENSP00000354950:A884P;ENSP00000378821:A862P;ENSP00000322604:A884P;ENSP00000378818:A884P;ENSP00000412628:A813P;ENSP00000363066:A884P	ENSP00000322604:A884P	A	-	1	0	PCDH15	55450059	0.983000	0.35010	0.996000	0.52242	0.995000	0.86356	1.414000	0.34736	0.775000	0.33450	0.650000	0.86243	GCA		PASS	0.393	PCDH15-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000048121.2	NM_033056		46	210	46	210	---	---	---	---
PCDH15	65217	broad.mit.edu	37	10	56287599	56287599	+	Missense_Mutation	SNP	C	C	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr10:56287599C>T	ENST00000320301.6	-	3	524	c.130G>A	c.(130-132)Gtt>Att	p.V44I	PCDH15_ENST00000395438.1_Missense_Mutation_p.V44I|PCDH15_ENST00000395440.1_Missense_Mutation_p.V44I|PCDH15_ENST00000395442.1_Missense_Mutation_p.V44I|PCDH15_ENST00000409834.1_Intron|RP11-257I14.1_ENST00000422842.1_RNA|PCDH15_ENST00000395432.2_Missense_Mutation_p.V44I|PCDH15_ENST00000395430.1_Missense_Mutation_p.V44I|PCDH15_ENST00000414778.1_Missense_Mutation_p.V49I|PCDH15_ENST00000395446.1_Missense_Mutation_p.V44I|PCDH15_ENST00000373955.1_Missense_Mutation_p.V44I|PCDH15_ENST00000373957.3_Intron|PCDH15_ENST00000361849.3_Missense_Mutation_p.V44I|PCDH15_ENST00000437009.1_Missense_Mutation_p.V44I|PCDH15_ENST00000395445.1_Missense_Mutation_p.V44I|PCDH15_ENST00000373965.2_Missense_Mutation_p.V44I|PCDH15_ENST00000395433.1_Intron	NM_033056.3	NP_149045.3	Q96QU1	PCD15_HUMAN	protocadherin-related 15	44	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				equilibrioception (GO:0050957)|homophilic cell adhesion (GO:0007156)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)|synapse (GO:0045202)	calcium ion binding (GO:0005509)	p.V44I(3)|p.V49I(2)		NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				TCAATAGCAACTATGGTAGCT	0.348										HNSCC(58;0.16)																												uc001jju.1																			5	Substitution - Missense(5)		lung(5)	pancreas(5)|ovary(4)|upper_aerodigestive_tract(2)|skin(2)	13						c.(130-132)GTT>ATT		protocadherin 15 isoform CD1-4 precursor							88.0	89.0	89.0					10																	56287599		2203	4300	6503	SO:0001583	missense	65217				equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding	g.chr10:56287599C>T	AY029205	CCDS7248.1, CCDS44400.1, CCDS44401.1, CCDS44403.1, CCDS44404.1, CCDS73134.1, CCDS73135.1, CCDS73136.1, CCDS73137.1, CCDS73138.1	10q21.1	2013-01-08	2010-01-25		ENSG00000150275	ENSG00000150275		"""Cadherins / Cadherin-related"""	14674	protein-coding gene	gene with protein product	"""cadherin-related family member 15"""	605514	"""deafness, autosomal recessive 23"", ""protocadherin 15"""	USH1F, DFNB23		11398101, 14570705	Standard	NM_033056		Approved	CDHR15	uc010qhy.1	Q96QU1	OTTHUMG00000018259	ENST00000320301.6:c.130G>A	10.37:g.56287599C>T	ENSP00000322604:p.Val44Ile	HNSCC(58;0.16)				PCDH15_uc010qhq.1_Missense_Mutation_p.V49I|PCDH15_uc010qhr.1_Missense_Mutation_p.V44I|PCDH15_uc010qhs.1_Missense_Mutation_p.V49I|PCDH15_uc010qht.1_Missense_Mutation_p.V44I|PCDH15_uc010qhu.1_Missense_Mutation_p.V44I|PCDH15_uc001jjv.1_Intron|PCDH15_uc010qhv.1_Missense_Mutation_p.V44I|PCDH15_uc010qhw.1_Missense_Mutation_p.V44I|PCDH15_uc010qhx.1_Missense_Mutation_p.V44I|PCDH15_uc010qhy.1_Missense_Mutation_p.V49I|PCDH15_uc010qhz.1_Missense_Mutation_p.V44I|PCDH15_uc010qia.1_Intron|PCDH15_uc010qib.1_Intron|PCDH15_uc001jjw.2_Missense_Mutation_p.V44I	p.V44I	NM_033056	NP_149045	Q96QU1	PCD15_HUMAN			3	525	-		Melanoma(3;0.117)|Lung SC(717;0.238)	44			Cadherin 1.|Extracellular (Potential).		A6NL19|C6ZEF5|C6ZEF6|C6ZEF7|Q5VY38|Q5VY39|Q6TRH8|Q8NDB9|Q96QT8	Missense_Mutation	SNP	ENST00000320301.6	37	c.130G>A	CCDS7248.1	.	.	.	.	.	.	.	.	.	.	C	24.0	4.480765	0.84747	.	.	ENSG00000150275	ENST00000373965;ENST00000414778;ENST00000455746;ENST00000395438;ENST00000395445;ENST00000395446;ENST00000395442;ENST00000395440;ENST00000395432;ENST00000361849;ENST00000320301;ENST00000395430;ENST00000417177;ENST00000437009;ENST00000373955;ENST00000458638	T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.58210	0.49;0.5;0.46;0.45;0.45;0.7;0.6;0.35;0.4;0.41;0.41;0.44;0.56;0.54	5.74	5.74	0.90152	.	.	.	.	.	T	0.55033	0.1895	L	0.29908	0.895	0.34744	D	0.731024	P;P;D;D;P;P;P;P;D;P;B;P	0.59767	0.928;0.928;0.986;0.986;0.941;0.872;0.584;0.584;0.986;0.953;0.41;0.928	P;P;P;P;P;B;P;B;P;P;P;P	0.53760	0.474;0.474;0.644;0.734;0.478;0.36;0.466;0.41;0.578;0.644;0.504;0.474	T	0.60078	-0.7333	9	0.32370	T	0.25	.	18.6718	0.91514	0.0:1.0:0.0:0.0	.	44;49;44;44;44;44;44;44;44;49;44;44	A2A3E7;C9JIG1;E7EM53;E7EMG0;A2A3E6;A2A3E3;C6ZEF5;A2A3E2;C6ZEF7;C9J4F3;Q96QU1-3;Q96QU1	.;.;.;.;.;.;.;.;.;.;.;PCD15_HUMAN	I	44;49;44;44;44;44;44;44;44;44;44;44;49;44;44;44	ENSP00000363076:V44I;ENSP00000410304:V49I;ENSP00000378826:V44I;ENSP00000378832:V44I;ENSP00000378833:V44I;ENSP00000378829:V44I;ENSP00000378827:V44I;ENSP00000378820:V44I;ENSP00000354950:V44I;ENSP00000322604:V44I;ENSP00000378818:V44I;ENSP00000412628:V44I;ENSP00000363066:V44I;ENSP00000394465:V44I	ENSP00000322604:V44I	V	-	1	0	PCDH15	55957605	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	4.593000	0.61034	2.709000	0.92574	0.650000	0.86243	GTT		PASS	0.348	PCDH15-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000048121.2	NM_033056		25	119	25	119	---	---	---	---
BICC1	80114	broad.mit.edu	37	10	60556226	60556226	+	Missense_Mutation	SNP	G	G	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr10:60556226G>T	ENST00000373886.3	+	10	1310	c.1306G>T	c.(1306-1308)Ggc>Tgc	p.G436C	BICC1_ENST00000263103.1_Missense_Mutation_p.G62C	NM_001080512.1	NP_001073981.1	Q9H694	BICC1_HUMAN	BicC family RNA binding protein 1	436					multicellular organismal development (GO:0007275)|negative regulation of canonical Wnt signaling pathway (GO:0090090)	cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)	p.G436C(1)		breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	44						CTGCCCTGCCGGCCTGGCATG	0.502																																						uc001jki.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)|lung(1)|skin(1)	4						c.(1306-1308)GGC>TGC		bicaudal C homolog 1							90.0	79.0	82.0					10																	60556226		2203	4300	6503	SO:0001583	missense	80114				multicellular organismal development		RNA binding	g.chr10:60556226G>T	AK026129	CCDS31206.1	10q21.3	2014-09-17	2014-02-03		ENSG00000122870	ENSG00000122870		"""Sterile alpha motif (SAM) domain containing"""	19351	protein-coding gene	gene with protein product		614295	"""bicaudal C homolog 1 (Drosophila)"""				Standard	XM_005270166		Approved		uc001jki.1	Q9H694	OTTHUMG00000018271	ENST00000373886.3:c.1306G>T	10.37:g.60556226G>T	ENSP00000362993:p.Gly436Cys					BICC1_uc001jkj.1_Missense_Mutation_p.G77C	p.G436C	NM_001080512	NP_001073981	Q9H694	BICC1_HUMAN			10	1306	+			436						Missense_Mutation	SNP	ENST00000373886.3	37	c.1306G>T	CCDS31206.1	.	.	.	.	.	.	.	.	.	.	G	17.82	3.484301	0.63962	.	.	ENSG00000122870	ENST00000373886;ENST00000263103	T;T	0.49432	1.65;0.78	5.18	4.24	0.50183	.	0.270972	0.41938	D	0.000797	T	0.45498	0.1345	L	0.36672	1.1	0.34595	D	0.715945	D;P	0.69078	0.997;0.87	P;B	0.51806	0.68;0.366	T	0.59553	-0.7433	10	0.54805	T	0.06	-7.8971	8.9292	0.35659	0.0821:0.1463:0.7716:0.0	.	356;436	E7EU62;Q9H694	.;BICC1_HUMAN	C	436;62	ENSP00000362993:G436C;ENSP00000263103:G62C	ENSP00000263103:G62C	G	+	1	0	BICC1	60226232	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.676000	0.68131	1.242000	0.43836	0.655000	0.94253	GGC		PASS	0.502	BICC1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048150.2	NM_025044		34	62	34	62	---	---	---	---
ZNF365	22891	broad.mit.edu	37	10	64159503	64159503	+	Silent	SNP	C	C	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr10:64159503C>T	ENST00000395254.3	+	5	1459	c.1179C>T	c.(1177-1179)ccC>ccT	p.P393P	ZNF365_ENST00000410046.3_Intron|ZNF365_ENST00000395255.3_Intron|ZNF365_ENST00000466727.1_3'UTR	NM_014951.2	NP_055766.2	Q70YC4	TALAN_HUMAN	zinc finger protein 365	0								p.P393P(1)		breast(1)|endometrium(6)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27	Prostate(12;0.0297)|all_hematologic(501;0.228)					ACATCAGGCCCAAAATGGCTA	0.527																																						uc001jly.3																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|skin(1)	2						c.(1222-1224)CCC>CCT		zinc finger protein 365 isoform A							49.0	48.0	48.0					10																	64159503		2203	4300	6503	SO:0001819	synonymous_variant	22891							g.chr10:64159503C>T	AB020651	CCDS7264.1, CCDS7265.1, CCDS31209.1, CCDS41531.1	10q21.2	2008-10-28			ENSG00000138311	ENSG00000138311		"""Zinc fingers, C2H2-type"""	18194	protein-coding gene	gene with protein product	"""Talanin"""	607818				10048485, 12740763	Standard	NM_199450		Approved	KIAA0844, UAN	uc001jmc.2	Q70YC4	OTTHUMG00000018302	ENST00000395254.3:c.1179C>T	10.37:g.64159503C>T						ZNF365_uc001jmb.3_Intron|ZNF365_uc001jmc.2_Intron|ZNF365_uc001jlz.3_Silent_p.P393P|ZNF365_uc001jma.3_RNA	p.P408P	NM_014951	NP_055766	Q70YC4	TALAN_HUMAN			5	1286	+	Prostate(12;0.0297)|all_hematologic(501;0.228)		Error:Variant_position_missing_in_Q70YC4_after_alignment						Silent	SNP	ENST00000395254.3	37	c.1224C>T	CCDS31209.1																																																																																				PASS	0.527	ZNF365-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048238.2	NM_014951		25	40	25	40	---	---	---	---
TET1	80312	broad.mit.edu	37	10	70412277	70412277	+	Missense_Mutation	SNP	G	G	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr10:70412277G>T	ENST00000373644.4	+	6	4596	c.4387G>T	c.(4387-4389)Gca>Tca	p.A1463S		NM_030625.2	NP_085128.2	Q8NFU7	TET1_HUMAN	tet methylcytosine dioxygenase 1	1463					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.A1463S(1)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(2)|ovary(5)|prostate(1)|upper_aerodigestive_tract(2)	21						AAAAGGAAACGCAATAAGGAT	0.358																																						uc001jok.3																			1	Substitution - Missense(1)		lung(1)	ovary(5)|lung(2)|prostate(1)|breast(1)	9						c.(4387-4389)GCA>TCA		CXXC finger 6							105.0	105.0	105.0					10																	70412277		2203	4300	6503	SO:0001583	missense	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.chr10:70412277G>T	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.4387G>T	10.37:g.70412277G>T	ENSP00000362748:p.Ala1463Ser						p.A1463S	NM_030625	NP_085128	Q8NFU7	TET1_HUMAN			6	4892	+			1463					Q5VUP7|Q7Z6B6|Q8TCR1|Q9C0I7	Missense_Mutation	SNP	ENST00000373644.4	37	c.4387G>T	CCDS7281.1	.	.	.	.	.	.	.	.	.	.	G	29.0	4.968345	0.92855	.	.	ENSG00000138336	ENST00000373644	T	0.38560	1.13	5.73	5.73	0.89815	TET cysteine-rich domain (1);	0.000000	0.85682	D	0.000000	T	0.66356	0.2781	M	0.74467	2.265	0.52099	D	0.999948	D	0.71674	0.998	D	0.66716	0.946	T	0.68507	-0.5390	10	0.87932	D	0	.	19.9068	0.97010	0.0:0.0:1.0:0.0	.	1463	Q8NFU7	TET1_HUMAN	S	1463	ENSP00000362748:A1463S	ENSP00000362748:A1463S	A	+	1	0	TET1	70082283	1.000000	0.71417	0.845000	0.33349	0.990000	0.78478	9.188000	0.94921	2.696000	0.92011	0.555000	0.69702	GCA		PASS	0.358	TET1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048354.1	NM_030625		40	63	40	63	---	---	---	---
PRF1	5551	broad.mit.edu	37	10	72358511	72358511	+	Silent	SNP	G	G	T	rs535958677		TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr10:72358511G>T	ENST00000441259.1	-	3	1126	c.966C>A	c.(964-966)ccC>ccA	p.P322P	PRF1_ENST00000373209.2_Silent_p.P322P	NM_001083116.1|NM_005041.4	NP_001076585.1|NP_005032.2	P14222	PERF_HUMAN	perforin 1 (pore forming protein)	322	MACPF. {ECO:0000255|PROSITE- ProRule:PRU00745}.				apoptotic process (GO:0006915)|cellular defense response (GO:0006968)|cytolysis (GO:0019835)|defense response to tumor cell (GO:0002357)|defense response to virus (GO:0051607)|immune response to tumor cell (GO:0002418)|protein homooligomerization (GO:0051260)|transmembrane transport (GO:0055085)	cytolytic granule (GO:0044194)|cytoplasmic membrane-bounded vesicle (GO:0016023)|endosome (GO:0005768)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|wide pore channel activity (GO:0022829)	p.P322P(1)		breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(11)|ovary(1)|prostate(3)|urinary_tract(3)	23						AGTACTGCTCGGGCCCGGCCT	0.662			M			"""various leukaemia, lymphoma"""	Type 2 familial hemophagocytic lymphohistiocytosis		Familial Hemophagocytic Lymphohistiocytosis																													uc009xqg.2			yes	Rec			10	10q22	5551	M	perforin 1 (pore forming protein)		Type 2 familial hemophagocytic lymphohistiocytosis	L		various leukaemia|lymphoma			1	Substitution - coding silent(1)		lung(1)	large_intestine(1)|ovary(1)|central_nervous_system(1)	3						c.(964-966)CCC>CCA		perforin 1 precursor							78.0	69.0	72.0					10																	72358511		2203	4300	6503	SO:0001819	synonymous_variant	5551	Familial_Hemophagocytic_Lymphohistiocytosis	Familial Cancer Database	FHLH, FHL, Familial Hemophagocytic Reticulosis, FHR	apoptosis|cellular defense response|cytolysis|defense response to tumor cell|defense response to virus|immune response to tumor cell|protein homooligomerization	cytolytic granule|endosome lumen|extracellular region|integral to membrane|plasma membrane	calcium ion binding|protein binding|wide pore channel activity	g.chr10:72358511G>T	BC047695	CCDS7305.1	10q22	2014-09-17			ENSG00000180644	ENSG00000180644			9360	protein-coding gene	gene with protein product	"""Perforin"", ""perforin 1 (preforming protein)"""	170280				1505959, 2592021	Standard	NM_005041		Approved	PFP, P1, HPLH2	uc001jrf.4	P14222	OTTHUMG00000018412	ENST00000441259.1:c.966C>A	10.37:g.72358511G>T						PRF1_uc001jrf.3_Silent_p.P322P	p.P322P	NM_001083116	NP_001076585	P14222	PERF_HUMAN			3	1127	-			322			MACPF.		B2R6X4|Q59F57|Q86WX7	Silent	SNP	ENST00000441259.1	37	c.966C>A	CCDS7305.1																																																																																				PASS	0.662	PRF1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048517.2	NM_005041		46	59	46	59	---	---	---	---
CDH23	64072	broad.mit.edu	37	10	73464784	73464784	+	Silent	SNP	C	C	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr10:73464784C>A	ENST00000224721.6	+	24	2870	c.2865C>A	c.(2863-2865)acC>acA	p.T955T	CDH23_ENST00000299366.7_Silent_p.T995T	NM_022124.5	NP_071407.4	Q9H251	CAD23_HUMAN	cadherin-related 23	950	Cadherin 9. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium ion transport (GO:0006816)|calcium-dependent cell-cell adhesion (GO:0016339)|cytosolic calcium ion homeostasis (GO:0051480)|equilibrioception (GO:0050957)|homophilic cell adhesion (GO:0007156)|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)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)	calcium ion binding (GO:0005509)	p.T955T(1)		NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3)	133						TGGTCACCACCACCGAGCTGG	0.667																																						uc001jrx.3																			1	Substitution - coding silent(1)		lung(1)	central_nervous_system(5)|large_intestine(4)|ovary(2)	11						c.(2848-2850)ACC>ACA		cadherin-like 23 isoform 1 precursor							52.0	57.0	55.0					10																	73464784		2090	4187	6277	SO:0001819	synonymous_variant	64072				calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	cytosol|integral to membrane|plasma membrane|stereocilium	calcium ion binding|protein binding	g.chr10:73464784C>A	AY010111	CCDS53540.1, CCDS73146.1	10q22.1	2014-08-08	2010-01-25		ENSG00000107736	ENSG00000107736		"""Cadherins / Cadherin-related"""	13733	protein-coding gene	gene with protein product	"""cadherin-related family member 23"""	605516	"""cadherin related 23"", ""cadherin-like 23"""	DFNB12, USH1D		11090341	Standard	NM_022124		Approved	CDHR23	uc001jrx.4	Q9H251	OTTHUMG00000019347	ENST00000224721.6:c.2865C>A	10.37:g.73464784C>A						CDH23_uc001jry.2_Silent_p.T566T|CDH23_uc001jrz.2_Silent_p.T566T	p.T950T	NM_022124	NP_071407	Q9H251	CAD23_HUMAN			24	3227	+			950			Cadherin 9.|Extracellular (Potential).		C4IXS9|F6U049|Q5QGS1|Q5QGS2|Q5QGS5|Q5QGS6|Q5XKN2|Q6UWW1|Q96JL3|Q9H4K9	Silent	SNP	ENST00000224721.6	37	c.2850C>A																																																																																					PASS	0.667	CDH23-001	PUTATIVE	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000051227.4	NM_052836		38	95	38	95	---	---	---	---
KAT6B	23522	broad.mit.edu	37	10	76603051	76603051	+	Missense_Mutation	SNP	C	C	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr10:76603051C>A	ENST00000287239.4	+	3	925	c.436C>A	c.(436-438)Cca>Aca	p.P146T	KAT6B_ENST00000372725.1_Missense_Mutation_p.P146T|KAT6B_ENST00000372714.1_Missense_Mutation_p.P146T|KAT6B_ENST00000372724.1_Missense_Mutation_p.P146T|KAT6B_ENST00000372711.1_Missense_Mutation_p.P146T	NM_001256468.1|NM_012330.3	NP_001243397.1|NP_036462.2	Q8WYB5	KAT6B_HUMAN	K(lysine) acetyltransferase 6B	146	H15. {ECO:0000255|PROSITE- ProRule:PRU00837}.				chromatin organization (GO:0006325)|histone acetylation (GO:0016573)|histone H3 acetylation (GO:0043966)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleosome assembly (GO:0006334)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	MOZ/MORF histone acetyltransferase complex (GO:0070776)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)	acetyltransferase activity (GO:0016407)|DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)	p.P146T(1)									CACCAACAACCCAGCCTTTCA	0.517																																						uc001jwn.1										T					CREBBP		AML		1	Substitution - Missense(1)		lung(1)	central_nervous_system(5)|ovary(4)|lung(3)|breast(2)|skin(1)|prostate(1)	16						c.(436-438)CCA>ACA		MYST histone acetyltransferase (monocytic							72.0	72.0	72.0					10																	76603051		2203	4300	6503	SO:0001583	missense	23522				histone H3 acetylation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	MOZ/MORF histone acetyltransferase complex|nucleosome	DNA binding|histone acetyltransferase activity|transcription factor binding|zinc ion binding	g.chr10:76603051C>A	AF113514	CCDS7345.1, CCDS58084.1, CCDS58085.1	10q22.2	2013-01-28	2011-07-21	2011-07-21	ENSG00000156650	ENSG00000156650		"""Chromatin-modifying enzymes / K-acetyltransferases"", ""Zinc fingers, C2HC-type containing"", ""Zinc fingers, PHD-type"""	17582	protein-coding gene	gene with protein product	"""MOZ-related factor"""	605880	"""MYST histone acetyltransferase (monocytic leukemia) 4"""	MYST4		9205841, 10497217	Standard	NM_012330		Approved	querkopf, qkf, Morf, MOZ2, ZC2HC6B	uc001jwn.2	Q8WYB5	OTTHUMG00000018509	ENST00000287239.4:c.436C>A	10.37:g.76603051C>A	ENSP00000287239:p.Pro146Thr					MYST4_uc001jwm.1_Missense_Mutation_p.P146T|MYST4_uc001jwo.1_Missense_Mutation_p.P146T|MYST4_uc001jwp.1_Missense_Mutation_p.P146T	p.P146T	NM_012330	NP_036462	Q8WYB5	MYST4_HUMAN			3	929	+	all_cancers(46;0.0347)|all_epithelial(25;0.00236)|Prostate(51;0.0112)|Ovarian(15;0.0964)		146			H15.		O15087|Q86Y05|Q8WU81|Q9UKW2|Q9UKW3|Q9UKX0	Missense_Mutation	SNP	ENST00000287239.4	37	c.436C>A	CCDS7345.1	.	.	.	.	.	.	.	.	.	.	C	9.982	1.228339	0.22542	.	.	ENSG00000156650	ENST00000372725;ENST00000372724;ENST00000287239;ENST00000372714;ENST00000372711	T;T;T;T;T	0.20738	2.05;2.05;2.05;2.05;2.05	6.04	5.1	0.69264	.	0.155091	0.29745	N	0.011311	T	0.25717	0.0626	L	0.43152	1.355	0.33534	D	0.593994	P;P;P	0.43938	0.787;0.787;0.822	B;B;P	0.48368	0.439;0.439;0.575	T	0.15492	-1.0435	10	0.39692	T	0.17	-7.1175	12.3185	0.54971	0.0:0.8:0.131:0.069	.	146;146;146	Q8WYB5-2;Q8WYB5-3;Q8WYB5	.;.;KAT6B_HUMAN	T	146	ENSP00000361810:P146T;ENSP00000361809:P146T;ENSP00000287239:P146T;ENSP00000361799:P146T;ENSP00000361796:P146T	ENSP00000287239:P146T	P	+	1	0	KAT6B	76273057	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	3.077000	0.50089	2.873000	0.98535	0.563000	0.77884	CCA		PASS	0.517	KAT6B-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048771.1	NM_012330		63	59	63	59	---	---	---	---
KCNMA1	3778	broad.mit.edu	37	10	78943265	78943265	+	Nonsense_Mutation	SNP	C	C	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr10:78943265C>T	ENST00000286628.8	-	5	721	c.722G>A	c.(721-723)tGg>tAg	p.W241*	KCNMA1_ENST00000286627.5_Nonsense_Mutation_p.W241*|KCNMA1_ENST00000354353.5_Nonsense_Mutation_p.W241*|KCNMA1_ENST00000372443.1_Nonsense_Mutation_p.W241*|KCNMA1_ENST00000406533.3_Nonsense_Mutation_p.W241*|KCNMA1_ENST00000404857.1_Nonsense_Mutation_p.W241*|KCNMA1_ENST00000372440.1_Nonsense_Mutation_p.W241*|KCNMA1_ENST00000404771.3_Nonsense_Mutation_p.W241*	NM_001161352.1	NP_001154824.1	Q12791	KCMA1_HUMAN	potassium large conductance calcium-activated channel, subfamily M, alpha member 1	241					blood coagulation (GO:0007596)|cellular potassium ion homeostasis (GO:0030007)|micturition (GO:0060073)|negative regulation of cell volume (GO:0045794)|positive regulation of apoptotic process (GO:0043065)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of membrane potential (GO:0042391)|response to calcium ion (GO:0051592)|response to carbon monoxide (GO:0034465)|response to hypoxia (GO:0001666)|response to osmotic stress (GO:0006970)|smooth muscle contraction involved in micturition (GO:0060083)|synaptic transmission (GO:0007268)	apical plasma membrane (GO:0016324)|caveola (GO:0005901)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	actin binding (GO:0003779)|calcium-activated potassium channel activity (GO:0015269)|large conductance calcium-activated potassium channel activity (GO:0060072)|metal ion binding (GO:0046872)|voltage-gated potassium channel activity (GO:0005249)	p.W241*(2)		breast(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(17)|lung(23)|ovary(2)|pancreas(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	68	all_cancers(46;0.203)|all_epithelial(25;0.00604)|Prostate(51;0.0198)		OV - Ovarian serous cystadenocarcinoma(4;0.0586)|Epithelial(14;0.081)|all cancers(16;0.183)		Bendroflumethiazide(DB00436)|Chlorzoxazone(DB00356)|Cromoglicic acid(DB01003)|Diazoxide(DB01119)|Halothane(DB01159)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Miconazole(DB01110)|Procaine(DB00721)	CAGCCAGAACCACAATTTATC	0.438																																						uc001jxn.2																			2	Substitution - Nonsense(2)		lung(2)	pancreas(2)|ovary(1)	3						c.(721-723)TGG>TAG		large conductance calcium-activated potassium	Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Chlorzoxazone(DB00356)|Cromoglicate(DB01003)|Cyclothiazide(DB00606)|Diazoxide(DB01119)|Enflurane(DB00228)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Quinethazone(DB01325)|Trichlormethiazide(DB01021)						82.0	73.0	76.0					10																	78943265		2203	4300	6503	SO:0001587	stop_gained	3778				cellular potassium ion homeostasis|negative regulation of cell volume|platelet activation|positive regulation of apoptosis|regulation of membrane potential|response to calcium ion|response to carbon monoxide|response to hypoxia|response to osmotic stress|smooth muscle contraction involved in micturition	apical plasma membrane|caveola|integral to membrane|voltage-gated potassium channel complex	actin binding|calcium-activated potassium channel activity|large conductance calcium-activated potassium channel activity|metal ion binding|voltage-gated potassium channel activity	g.chr10:78943265C>T	U11717	CCDS7352.1, CCDS60569.1, CCDS60571.1, CCDS60572.1, CCDS73156.1	10q22	2012-07-05			ENSG00000156113	ENSG00000156113		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, calcium-activated"""	6284	protein-coding gene	gene with protein product	"""BK channel alpha subunit"""	600150		SLO		7987297, 16382103	Standard	NM_002247		Approved	KCa1.1, mSLO1	uc001jxn.3	Q12791	OTTHUMG00000018543	ENST00000286628.8:c.722G>A	10.37:g.78943265C>T	ENSP00000286628:p.Trp241*					KCNMA1_uc001jxj.2_Nonsense_Mutation_p.W241*|KCNMA1_uc001jxk.1_5'UTR|KCNMA1_uc009xrt.1_Nonsense_Mutation_p.W61*|KCNMA1_uc001jxo.2_Nonsense_Mutation_p.W241*|KCNMA1_uc001jxm.2_Nonsense_Mutation_p.W241*|KCNMA1_uc001jxq.2_Nonsense_Mutation_p.W241*	p.W241*	NM_001161352	NP_001154824	Q12791	KCMA1_HUMAN	OV - Ovarian serous cystadenocarcinoma(4;0.0586)|Epithelial(14;0.081)|all cancers(16;0.183)		5	899	-	all_cancers(46;0.203)|all_epithelial(25;0.00604)|Prostate(51;0.0198)		241			Helical; Name=Segment S3; (Potential).		F8WA96|Q12886|Q12917|Q12921|Q12960|Q13150|Q5JQ23|Q5SQR9|Q96LG8|Q9UBB0|Q9UCX0|Q9UQK6	Nonsense_Mutation	SNP	ENST00000286628.8	37	c.722G>A		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	37|37	6.559832|6.559832	0.97663|0.97663	.|.	.|.	ENSG00000156113|ENSG00000156113	ENST00000372403|ENST00000372440;ENST00000372408;ENST00000372437;ENST00000457953;ENST00000404771;ENST00000372443;ENST00000286627;ENST00000286628;ENST00000406533;ENST00000354353;ENST00000404857;ENST00000412708	.|.	.|.	.|.	5.92|5.92	5.92|5.92	0.95590|0.95590	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|.	0.49695|.	0.1572|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.38329|.	-0.9666|.	3|.	.|0.02654	.|T	.|1	-7.0545|-7.0545	20.3151|20.3151	0.98650|0.98650	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|.	.|.	.|.	S|X	192|241;178;176;215;178;241;241;215;241;241;241;23	.|.	.|ENSP00000286627:W241X	G|W	-|-	1|2	0|0	KCNMA1|KCNMA1	78613271|78613271	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.938000|0.938000	0.57974|0.57974	7.707000|7.707000	0.84623|0.84623	2.809000|2.809000	0.96659|0.96659	0.467000|0.467000	0.42956|0.42956	GGT|TGG		PASS	0.438	KCNMA1-009	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000048885.3	NM_002247		22	50	22	50	---	---	---	---
FAM213A	84293	broad.mit.edu	37	10	82185667	82185667	+	Missense_Mutation	SNP	G	G	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr10:82185667G>T	ENST00000372181.1	+	3	786	c.316G>T	c.(316-318)Ggc>Tgc	p.G106C	FAM213A_ENST00000372188.1_Missense_Mutation_p.G106C|FAM213A_ENST00000372185.1_Missense_Mutation_p.G95C|FAM213A_ENST00000372187.5_Missense_Mutation_p.G106C	NM_001243778.1|NM_001243782.1	NP_001230707.1|NP_001230711.1	Q9BRX8	F213A_HUMAN	family with sequence similarity 213, member A	106	Thioredoxin fold. {ECO:0000250}.				oxidation-reduction process (GO:0055114)|regulation of osteoclast differentiation (GO:0045670)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	antioxidant activity (GO:0016209)	p.G106C(1)									GGACCAGCTGGGCGTCCCCCT	0.522																																						uc001kcc.3																			1	Substitution - Missense(1)		lung(1)		0						c.(316-318)GGC>TGC		hypothetical protein LOC84293 precursor							122.0	112.0	115.0					10																	82185667		2203	4300	6503	SO:0001583	missense	84293					extracellular region		g.chr10:82185667G>T	AF086462	CCDS7368.1, CCDS58089.1	10q23.1	2011-12-08	2011-12-08	2011-12-08	ENSG00000122378	ENSG00000122378			28651	protein-coding gene	gene with protein product	"""peroxiredoxin-like 2 activated in M-CSF stimulated monocytes"""		"""chromosome 10 open reading frame 58"""	C10orf58		11483580, 19951071	Standard	NM_032333		Approved	MGC4248, PAMM	uc001kce.4	Q9BRX8	OTTHUMG00000018614	ENST00000372181.1:c.316G>T	10.37:g.82185667G>T	ENSP00000361254:p.Gly106Cys					C10orf58_uc001kcd.3_Missense_Mutation_p.G95C|C10orf58_uc001kce.3_Missense_Mutation_p.G106C|C10orf58_uc001kcf.3_Missense_Mutation_p.G106C	p.G106C	NM_032333	NP_115709	Q9BRX8	CJ058_HUMAN	Colorectal(32;0.229)		4	476	+			106					B2RD81|Q6UW08|Q8N2K3|Q8NBK9|Q96JR0	Missense_Mutation	SNP	ENST00000372181.1	37	c.316G>T	CCDS7368.1	.	.	.	.	.	.	.	.	.	.	G	16.88	3.245515	0.59103	.	.	ENSG00000122378	ENST00000372188;ENST00000372187;ENST00000372185;ENST00000372181	T;T;T;T	0.58210	0.35;0.35;0.35;0.35	5.38	4.48	0.54585	.	0.044947	0.85682	D	0.000000	T	0.76601	0.4010	M	0.92026	3.265	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.81435	-0.0934	10	0.87932	D	0	-27.52	11.9868	0.53153	0.0841:0.0:0.9159:0.0	.	106	Q9BRX8	PAMM_HUMAN	C	106;106;95;106	ENSP00000361262:G106C;ENSP00000361261:G106C;ENSP00000361259:G95C;ENSP00000361254:G106C	ENSP00000361254:G106C	G	+	1	0	C10orf58	82175647	1.000000	0.71417	0.934000	0.37439	0.317000	0.28152	9.371000	0.97162	1.273000	0.44346	0.555000	0.69702	GGC		PASS	0.522	FAM213A-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049077.2			34	130	34	130	---	---	---	---
SH2D4B	387694	broad.mit.edu	37	10	82369182	82369183	+	Splice_Site	DNP	GG	GG	TT			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr10:82369182_82369183GG>TT	ENST00000470604.2	+	6	857_858	c.857_858GG>TT	c.(856-858)aGG>aTT	p.R286I	SH2D4B_ENST00000372150.3_3'UTR|SH2D4B_ENST00000339284.2_Splice_Site_p.R287I|SH2D4B_ENST00000313455.4_Missense_Mutation_p.R239I			Q5SQS7	SH24B_HUMAN	SH2 domain containing 4B	286								p.?(2)|p.R287S(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(6)	13			Colorectal(32;0.229)			CTCTTCAGCAGGACCTGGGAGC	0.604																																						uc001kck.1																			3	Unknown(2)|Substitution - Missense(1)		lung(3)		0						c.e6-1|c.(859-861)AGG>AGT		SH2 domain containing 4B isoform 1																																				SO:0001630	splice_region_variant	387694							g.chr10:82369182G>T|g.chr10:82369183G>T		CCDS7370.1, CCDS44449.1	10q23.1	2013-02-14			ENSG00000178217	ENSG00000178217		"""SH2 domain containing"""	31440	protein-coding gene	gene with protein product							Standard	NM_207372		Approved		uc001kck.1	Q5SQS7	OTTHUMG00000018617	Exception_encountered	10.37:g.82369182_82369183delinsTT						SH2D4B_uc001kcl.1_Missense_Mutation_p.R239M|SH2D4B_uc001kcm.1_Missense_Mutation_p.R34M|SH2D4B_uc001kcl.1_Missense_Mutation_p.R239S|SH2D4B_uc001kcm.1_Missense_Mutation_p.R34S	p.R287_splice|p.R287S	NM_207372	NP_997255	Q5SQS7	SH24B_HUMAN	Colorectal(32;0.229)		6	1291	+			|286					Q5SQS5|Q6ZVW9|Q6ZVZ3	Splice_Site|Missense_Mutation	SNP	ENST00000470604.2	37	c.861_splice|c.861G>T																																																																																					PASS	0.604	SH2D4B-202	KNOWN	basic|appris_principal	protein_coding	protein_coding		XM_351984	Missense_Mutation	27|28	91	27	91	---	---	---	---
GRID1	2894	broad.mit.edu	37	10	88123739	88123739	+	Missense_Mutation	SNP	T	T	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr10:88123739T>A	ENST00000327946.7	-	2	279	c.194A>T	c.(193-195)aAg>aTg	p.K65M		NM_017551.2	NP_060021.1	Q9ULK0	GRID1_HUMAN	glutamate receptor, ionotropic, delta 1	65					ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|social behavior (GO:0035176)|synaptic transmission, glutamatergic (GO:0035249)	cell junction (GO:0030054)|dendrite (GO:0030425)|extracellular vesicular exosome (GO:0070062)|ionotropic glutamate receptor complex (GO:0008328)|postsynaptic membrane (GO:0045211)	extracellular-glutamate-gated ion channel activity (GO:0005234)|ionotropic glutamate receptor activity (GO:0004970)	p.K65M(1)		NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(46)|ovary(5)|prostate(4)|skin(5)|stomach(4)|upper_aerodigestive_tract(5)	106						CTCGATGACCTTGATGGAGTA	0.612										Multiple Myeloma(13;0.14)																												uc001kdl.1																			1	Substitution - Missense(1)		lung(1)	ovary(5)|upper_aerodigestive_tract(2)|large_intestine(2)|central_nervous_system(1)	10						c.(193-195)AAG>ATG		glutamate receptor, ionotropic, delta 1	L-Glutamic Acid(DB00142)						295.0	184.0	222.0					10																	88123739		2203	4300	6503	SO:0001583	missense	2894					cell junction|integral to membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity	g.chr10:88123739T>A	AB033046	CCDS31236.1	10q22	2012-08-29			ENSG00000182771	ENSG00000182771		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4575	protein-coding gene	gene with protein product		610659					Standard	NM_017551		Approved	GluD1, KIAA1220	uc001kdl.1	Q9ULK0	OTTHUMG00000018650	ENST00000327946.7:c.194A>T	10.37:g.88123739T>A	ENSP00000330148:p.Lys65Met	Multiple Myeloma(13;0.14)				GRID1_uc009xsu.1_RNA	p.K65M	NM_017551	NP_060021	Q9ULK0	GRID1_HUMAN			2	295	-			65			Extracellular (Potential).		B3KXD5|B7Z7L0|Q8IXT3	Missense_Mutation	SNP	ENST00000327946.7	37	c.194A>T	CCDS31236.1	.	.	.	.	.	.	.	.	.	.	T	22.5	4.299145	0.81025	.	.	ENSG00000182771	ENST00000327946	D	0.83506	-1.73	4.96	4.96	0.65561	Extracellular ligand-binding receptor (1);	0.073798	0.51477	D	0.000088	D	0.84383	0.5460	N	0.22421	0.69	0.80722	D	1	D	0.89917	1.0	D	0.71870	0.975	D	0.86348	0.1709	10	0.62326	D	0.03	.	13.8086	0.63248	0.0:0.0:0.0:1.0	.	65	Q9ULK0	GRID1_HUMAN	M	65	ENSP00000330148:K65M	ENSP00000330148:K65M	K	-	2	0	GRID1	88113719	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.233000	0.72320	1.856000	0.53863	0.397000	0.26171	AAG		PASS	0.612	GRID1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049148.3	XM_043613		21	87	21	87	---	---	---	---
OPN4	94233	broad.mit.edu	37	10	88423458	88423458	+	Nonsense_Mutation	SNP	C	C	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr10:88423458C>T	ENST00000241891.5	+	9	1464	c.1297C>T	c.(1297-1299)Cag>Tag	p.Q433*	OPN4_ENST00000372071.2_Nonsense_Mutation_p.Q444*	NM_033282.3	NP_150598.1	Q9UHM6	OPN4_HUMAN	opsin 4	433					phototransduction (GO:0007602)|protein-chromophore linkage (GO:0018298)|regulation of circadian rhythm (GO:0042752)|rhodopsin mediated signaling pathway (GO:0016056)|rhythmic process (GO:0048511)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	11-cis retinal binding (GO:0005502)|G-protein coupled photoreceptor activity (GO:0008020)	p.Q444*(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|liver(2)|lung(5)|ovary(3)	18						GGGAGCTGCCCAGCAAGCAAA	0.617																																						uc001kdq.2																			1	Substitution - Nonsense(1)		lung(1)	ovary(1)	1						c.(1297-1299)CAG>TAG		opsin 4 isoform 1							55.0	45.0	48.0					10																	88423458		2199	4300	6499	SO:0001587	stop_gained	94233				phototransduction|protein-chromophore linkage|regulation of circadian rhythm|rhythmic process|visual perception	integral to membrane|plasma membrane	11-cis retinal binding|G-protein coupled photoreceptor activity	g.chr10:88423458C>T	AF147788	CCDS7376.1, CCDS31237.1	10q22	2012-08-08	2008-04-16		ENSG00000122375	ENSG00000122375		"""GPCR / Class A : Opsin receptors"""	14449	protein-coding gene	gene with protein product	"""melanopsin"""	606665	"""opsin 4 (melanopsin)"""			10632589	Standard	NM_001030015		Approved	MOP, melanopsin	uc001kdp.3	Q9UHM6	OTTHUMG00000018654	ENST00000241891.5:c.1297C>T	10.37:g.88423458C>T	ENSP00000241891:p.Gln433*					OPN4_uc001kdp.2_Nonsense_Mutation_p.Q444*|OPN4_uc010qmk.1_Nonsense_Mutation_p.Q444*|OPN4_uc009xsx.1_Nonsense_Mutation_p.Q103*	p.Q433*	NM_033282	NP_150598	Q9UHM6	OPN4_HUMAN			9	1524	+			433			Cytoplasmic (Potential).		B7ZLB3|Q14D01|Q2PP22|Q8NGQ9	Nonsense_Mutation	SNP	ENST00000241891.5	37	c.1297C>T	CCDS7376.1	.	.	.	.	.	.	.	.	.	.	C	20.4	3.975739	0.74360	.	.	ENSG00000122375	ENST00000372071;ENST00000241891;ENST00000443292	.	.	.	3.86	1.97	0.26223	.	1.421560	0.04527	N	0.385663	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.13853	T	0.58	.	5.3599	0.16081	0.0:0.6814:0.2068:0.1118	.	.	.	.	X	444;433;444	.	ENSP00000241891:Q433X	Q	+	1	0	OPN4	88413438	0.005000	0.15991	0.005000	0.12908	0.001000	0.01503	0.856000	0.27818	0.586000	0.29626	-0.140000	0.14226	CAG		PASS	0.617	OPN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049158.2	NM_033282		8	11	8	11	---	---	---	---
NUTM2A	728118	broad.mit.edu	37	10	88988233	88988233	+	Missense_Mutation	SNP	G	G	C			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr10:88988233G>C	ENST00000381707.2	+	2	979	c.596G>C	c.(595-597)gGg>gCg	p.G199A	NUTM2A_ENST00000381689.4_Missense_Mutation_p.G199A|NUTM2A-AS1_ENST00000451940.2_RNA	NM_001099338.1	NP_001092808.1	Q8IVF1	NTM2A_HUMAN	NUT family member 2A	199								p.G126A(1)|p.G199A(1)									AGTGGGGCCGGGGCTTCCAAC	0.662																																						uc001kek.2																			2	Substitution - Missense(2)		lung(2)		0						c.(595-597)GGG>GCG		hypothetical protein LOC728118							26.0	29.0	28.0					10																	88988233		1153	2965	4118	SO:0001583	missense	728118							g.chr10:88988233G>C		CCDS44452.1	10q23.2	2013-03-15	2013-03-14	2013-03-14	ENSG00000184923	ENSG00000184923			23438	protein-coding gene	gene with protein product			"""family with sequence similarity 22, member A"""	FAM22A			Standard	NM_001099338		Approved		uc001kek.3	Q8IVF1	OTTHUMG00000018670	ENST00000381707.2:c.596G>C	10.37:g.88988233G>C	ENSP00000371126:p.Gly199Ala					LOC728190_uc009xtc.2_Intron|LOC728190_uc009xtd.2_Intron	p.G199A	NM_001099338	NP_001092808	Q8IVF1	FA22A_HUMAN			2	979	+			199					A6NMX5|C9JDI1|Q5VZW1	Missense_Mutation	SNP	ENST00000381707.2	37	c.596G>C	CCDS44452.1	.	.	.	.	.	.	.	.	.	.	g	7.254	0.603764	0.14002	.	.	ENSG00000184923	ENST00000381689;ENST00000381707;ENST00000416901	T;T	0.26067	1.76;1.76	1.29	1.29	0.21616	Nuclear Testis  protein, N-terminal (1);	.	.	.	.	T	0.21022	0.0506	L	0.52266	1.64	0.09310	N	1	B	0.30793	0.295	B	0.28232	0.087	T	0.21008	-1.0258	9	0.56958	D	0.05	.	6.1361	0.20233	0.0:0.0:1.0:0.0	.	199	Q8IVF1	FA22A_HUMAN	A	199;199;126	ENSP00000371107:G199A;ENSP00000371126:G199A	ENSP00000371107:G199A	G	+	2	0	FAM22A	88978213	0.105000	0.21958	0.005000	0.12908	0.004000	0.04260	0.117000	0.15583	1.081000	0.41110	0.374000	0.22700	GGG		PASS	0.662	NUTM2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049198.2	NM_001099338		5	91	5	91	---	---	---	---
KIF11	3832	broad.mit.edu	37	10	94381142	94381142	+	Splice_Site	SNP	G	G	C			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr10:94381142G>C	ENST00000260731.3	+	10	1219	c.1129G>C	c.(1129-1131)Gag>Cag	p.E377Q		NM_004523.3	NP_004514.2	P52732	KIF11_HUMAN	kinesin family member 11	377					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|chromosome segregation (GO:0007059)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|mitotic centrosome separation (GO:0007100)|mitotic nuclear division (GO:0007067)|mitotic spindle organization (GO:0007052)|spindle assembly involved in mitosis (GO:0090307)|spindle organization (GO:0007051)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinesin complex (GO:0005871)|membrane (GO:0016020)|microtubule (GO:0005874)|spindle (GO:0005819)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|plus-end-directed microtubule motor activity (GO:0008574)|protein complex binding (GO:0032403)|protein kinase binding (GO:0019901)	p.E377Q(1)		breast(1)|endometrium(5)|kidney(2)|large_intestine(9)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						TCTTGTGTAGGAGTATACGGA	0.373																																					Colon(47;212 1003 2764 4062 8431)	uc001kic.2																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(1129-1131)GAG>CAG		kinesin family member 11							113.0	108.0	110.0					10																	94381142		2203	4300	6503	SO:0001630	splice_region_variant	3832				blood coagulation|cell division|microtubule-based movement|spindle assembly involved in mitosis	chromatin remodeling complex|cytosol|kinesin complex|microtubule|spindle pole	ATP binding|microtubule motor activity|protein kinase binding	g.chr10:94381142G>C	X85137	CCDS7422.1	10q24.1	2008-03-03	2003-01-09	2003-01-10	ENSG00000138160	ENSG00000138160		"""Kinesins"""	6388	protein-coding gene	gene with protein product		148760	"""kinesin-like 1"""	KNSL1		1505978, 8548803	Standard	NM_004523		Approved	Eg5, HKSP, TRIP5	uc001kic.3	P52732	OTTHUMG00000018761	ENST00000260731.3:c.1129-1G>C	10.37:g.94381142G>C						KIF11_uc010qnq.1_Intron	p.E377Q	NM_004523	NP_004514	P52732	KIF11_HUMAN			10	1437	+			377			Potential.		A0AV49|B2RMV3|Q15716|Q5VWX0	Missense_Mutation	SNP	ENST00000260731.3	37	c.1129G>C	CCDS7422.1	.	.	.	.	.	.	.	.	.	.	G	20.7	4.032685	0.75504	.	.	ENSG00000138160	ENST00000260731	T	0.76060	-0.99	5.0	5.0	0.66597	.	0.058686	0.64402	D	0.000003	D	0.86961	0.6059	M	0.81239	2.535	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.87731	0.2579	9	.	.	.	.	18.3397	0.90300	0.0:0.0:1.0:0.0	.	377	P52732	KIF11_HUMAN	Q	377	ENSP00000260731:E377Q	.	E	+	1	0	KIF11	94371122	1.000000	0.71417	0.997000	0.53966	0.529000	0.34654	9.161000	0.94739	2.320000	0.78422	0.485000	0.47835	GAG		PASS	0.373	KIF11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049401.1	NM_004523	Missense_Mutation	47	59	47	59	---	---	---	---
PLCE1	51196	broad.mit.edu	37	10	95892039	95892039	+	Missense_Mutation	SNP	G	G	T	rs201727715		TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr10:95892039G>T	ENST00000371380.3	+	2	1550	c.1315G>T	c.(1315-1317)Ggt>Tgt	p.G439C	PLCE1_ENST00000260766.3_Missense_Mutation_p.G439C|PLCE1_ENST00000371375.1_Missense_Mutation_p.G131C|PLCE1_ENST00000371385.3_Missense_Mutation_p.G131C			Q9P212	PLCE1_HUMAN	phospholipase C, epsilon 1	439					activation of MAPK activity (GO:0000187)|calcium-mediated signaling (GO:0019722)|cell proliferation (GO:0008283)|cytoskeleton organization (GO:0007010)|diacylglycerol biosynthetic process (GO:0006651)|epidermal growth factor receptor signaling pathway (GO:0007173)|glomerulus development (GO:0032835)|heart development (GO:0007507)|inositol phosphate metabolic process (GO:0043647)|inositol phosphate-mediated signaling (GO:0048016)|lipid catabolic process (GO:0016042)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|phospholipid metabolic process (GO:0006644)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of GTPase activity (GO:0043547)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|Ras protein signal transduction (GO:0007265)|regulation of cell growth (GO:0001558)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|regulation of protein kinase activity (GO:0045859)|regulation of Ras protein signal transduction (GO:0046578)|regulation of smooth muscle contraction (GO:0006940)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|enzyme binding (GO:0019899)|guanyl-nucleotide exchange factor activity (GO:0005085)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|Ras GTPase binding (GO:0017016)|receptor signaling protein activity (GO:0005057)	p.G439C(2)|p.G131C(2)		liver(1)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	8		Colorectal(252;0.0458)				GATAAGCGTTGGTCCATGCTT	0.488																																						uc001kjk.2																			4	Substitution - Missense(4)		lung(4)	ovary(2)|skin(1)	3						c.(1315-1317)GGT>TGT		phospholipase C, epsilon 1 isoform 1							150.0	154.0	153.0					10																	95892039		2094	4210	6304	SO:0001583	missense	51196				activation of MAPK activity|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|calcium-mediated signaling|cell proliferation|cytoskeleton organization|diacylglycerol biosynthetic process|elevation of cytosolic calcium ion concentration|epidermal growth factor receptor signaling pathway|glomerulus development|heart development|lipid catabolic process|Ras protein signal transduction|regulation of cell growth|regulation of G-protein coupled receptor protein signaling pathway|regulation of Ras protein signal transduction|regulation of smooth muscle contraction	cytosol|Golgi membrane|membrane fraction|plasma membrane	calcium ion binding|guanyl-nucleotide exchange factor activity|phosphatidylinositol phospholipase C activity|Ras GTPase binding|receptor signaling protein activity	g.chr10:95892039G>T		CCDS41552.1, CCDS53555.1	10q23	2010-02-22			ENSG00000138193	ENSG00000138193	3.1.4.11		17175	protein-coding gene	gene with protein product	"""nephrosis type 3"""	608414				11022047, 11022048	Standard	NM_016341		Approved	KIAA1516, PLCE, NPHS3	uc001kjk.3	Q9P212	OTTHUMG00000018789	ENST00000371380.3:c.1315G>T	10.37:g.95892039G>T	ENSP00000360431:p.Gly439Cys					PLCE1_uc010qnx.1_Missense_Mutation_p.G439C|PLCE1_uc001kjm.2_Missense_Mutation_p.G131C	p.G439C	NM_016341	NP_057425	Q9P212	PLCE1_HUMAN			3	1949	+		Colorectal(252;0.0458)	439					A6NGW0|A6NLA1|A7MBN7|A8K1D7|B9EIJ6|Q1X6H8|Q5VWL4|Q5VWL5|Q9H9X8|Q9HBX6|Q9HC53|Q9UHV3	Missense_Mutation	SNP	ENST00000371380.3	37	c.1315G>T	CCDS41552.1	.	.	.	.	.	.	.	.	.	.	G	11.02	1.516519	0.27123	.	.	ENSG00000138193	ENST00000260766;ENST00000371380;ENST00000371385;ENST00000371375	T;T;T;T	0.30448	1.53;1.53;1.53;1.53	4.41	3.5	0.40072	Ras guanine nucleotide exchange factor, domain (1);	0.639221	0.14348	N	0.325298	T	0.34745	0.0908	N	0.24115	0.695	0.26949	N	0.966064	D;D;D	0.67145	0.993;0.996;0.993	P;P;P	0.59288	0.628;0.855;0.72	T	0.11036	-1.0604	10	0.87932	D	0	.	10.1651	0.42875	0.1627:0.0:0.8373:0.0	.	439;131;439	B7ZM61;Q9P212-2;Q9P212	.;.;PLCE1_HUMAN	C	439;439;131;131	ENSP00000260766:G439C;ENSP00000360431:G439C;ENSP00000360438:G131C;ENSP00000360426:G131C	ENSP00000260766:G439C	G	+	1	0	PLCE1	95882029	0.090000	0.21635	0.540000	0.28089	0.002000	0.02628	0.464000	0.21988	1.198000	0.43158	0.563000	0.77884	GGT		PASS	0.488	PLCE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000049469.3	NM_016341		53	73	53	73	---	---	---	---
SORBS1	10580	broad.mit.edu	37	10	97135751	97135751	+	Silent	SNP	C	C	T	rs369991270		TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr10:97135751C>T	ENST00000361941.3	-	17	1742	c.1716G>A	c.(1714-1716)tcG>tcA	p.S572S	SORBS1_ENST00000353505.5_Silent_p.S457S|SORBS1_ENST00000371241.1_Intron|SORBS1_ENST00000371249.2_Intron|SORBS1_ENST00000371227.4_Silent_p.S526S|SORBS1_ENST00000393949.1_Silent_p.S542S|SORBS1_ENST00000347291.4_Silent_p.S440S|SORBS1_ENST00000607232.1_Silent_p.S361S|SORBS1_ENST00000371239.1_Silent_p.S371S|SORBS1_ENST00000371246.2_Silent_p.S594S|SORBS1_ENST00000354106.3_Silent_p.S542S|SORBS1_ENST00000306402.6_Intron|SORBS1_ENST00000371247.2_Silent_p.S572S|SORBS1_ENST00000474353.2_Intron|SORBS1_ENST00000371245.3_Silent_p.S457S|SORBS1_ENST00000277982.5_Silent_p.S594S	NM_001034954.1	NP_001030126			sorbin and SH3 domain containing 1									p.S457S(1)|p.S572S(1)		NS(1)|breast(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(19)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	42		Colorectal(252;0.0429)		Epithelial(162;1.7e-06)|all cancers(201;6.52e-05)		ACTCCAATTCCGAAAAGAATT	0.378																																						uc001kkp.2																			2	Substitution - coding silent(2)		lung(2)	breast(1)	1						c.(1714-1716)TCG>TCA		sorbin and SH3 domain containing 1 isoform 3		C	,,,,,,	1,4405	2.1+/-5.4	0,1,2202	82.0	84.0	83.0		1716,1782,1371,,,,	5.7	1.0	10		83	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous,coding-synonymous,intron,intron,intron,intron	SORBS1	NM_001034954.1,NM_001034955.1,NM_001034956.1,NM_001034957.1,NM_006434.2,NM_015385.2,NM_024991.1	,,,,,,	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	,,,,,,	572/1293,594/1152,457/906,,,,	97135751	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	10580				focal adhesion assembly|glucose transport|insulin receptor signaling pathway|muscle contraction|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of lipid biosynthetic process|stress fiber assembly	centrosome|cytosol|focal adhesion|membrane raft|nucleus|stress fiber|zonula adherens	actin binding|insulin receptor binding|SH3/SH2 adaptor activity	g.chr10:97135751C>T	AF136381	CCDS7442.1, CCDS31252.1, CCDS31253.1, CCDS31254.1, CCDS31255.1, CCDS31256.1, CCDS73169.1	10q23.33	2011-07-25	2002-05-08		ENSG00000095637	ENSG00000095637			14565	protein-coding gene	gene with protein product	"""c-Cbl-associated protein"""	605264	"""SH3-domain protein 5 (ponsin)"""	SH3D5		10085297, 11001060	Standard	XM_005269405		Approved	FLJ12406, CAP, sh3p12, ponsin, KIAA1296	uc001kkp.3	Q9BX66	OTTHUMG00000018812	ENST00000361941.3:c.1716G>A	10.37:g.97135751C>T						SORBS1_uc001kkk.2_Intron|SORBS1_uc001kkl.2_Silent_p.S174S|SORBS1_uc001kkn.2_Silent_p.S359S|SORBS1_uc001kkm.2_Silent_p.S428S|SORBS1_uc001kko.2_Silent_p.S594S|SORBS1_uc001kkq.2_Silent_p.S457S|SORBS1_uc001kkr.2_Intron|SORBS1_uc001kks.2_Intron|SORBS1_uc001kkt.2_Intron|SORBS1_uc001kku.2_Intron|SORBS1_uc001kkv.2_Intron|SORBS1_uc001kkw.2_Silent_p.S526S|SORBS1_uc010qoe.1_Intron|SORBS1_uc010qof.1_Intron	p.S572S	NM_001034954	NP_001030126	Q9BX66	SRBS1_HUMAN		Epithelial(162;1.7e-06)|all cancers(201;6.52e-05)	17	1761	-		Colorectal(252;0.0429)	572						Silent	SNP	ENST00000361941.3	37	c.1716G>A	CCDS31255.1																																																																																				PASS	0.378	SORBS1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000049517.1			16	99	16	99	---	---	---	---
ARHGAP19	84986	broad.mit.edu	37	10	99025847	99025847	+	Missense_Mutation	SNP	G	G	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr10:99025847G>A	ENST00000358531.4	-	2	120	c.92C>T	c.(91-93)tCt>tTt	p.S31F	ARHGAP19_ENST00000371027.1_Missense_Mutation_p.S22F|ARHGAP19-SLIT1_ENST00000316676.8_Missense_Mutation_p.S31F|ARHGAP19-SLIT1_ENST00000453547.2_Missense_Mutation_p.S31F|ARHGAP19_ENST00000355366.5_Missense_Mutation_p.S22F|ARHGAP19-SLIT1_ENST00000358308.3_Missense_Mutation_p.S31F	NM_001204300.1|NM_032900.5	NP_001191229.1|NP_116289.4	Q14CB8	RHG19_HUMAN	Rho GTPase activating protein 19	31					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|nucleus (GO:0005634)	GTPase activator activity (GO:0005096)	p.S31F(1)		NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)|stomach(2)|urinary_tract(1)	13		Colorectal(252;0.0854)		Epithelial(162;7.65e-09)|all cancers(201;4.49e-07)		TCGAAGGGAAGAATCATTGCA	0.393																																						uc001knb.2																			1	Substitution - Missense(1)		lung(1)		0						c.(91-93)TCT>TTT		Rho GTPase activating protein 19							81.0	80.0	81.0					10																	99025847		2203	4300	6503	SO:0001583	missense	84986				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|nucleus	GTPase activator activity	g.chr10:99025847G>A	AK074122	CCDS7454.2, CCDS58092.1, CCDS73175.1	10q24.2	2011-06-29			ENSG00000213390	ENSG00000213390		"""Rho GTPase activating proteins"""	23724	protein-coding gene	gene with protein product		611587					Standard	NM_032900		Approved	FLJ00194, MGC14258	uc001knb.3	Q14CB8	OTTHUMG00000018845	ENST00000358531.4:c.92C>T	10.37:g.99025847G>A	ENSP00000351333:p.Ser31Phe					ARHGAP19_uc001kmy.2_RNA|ARHGAP19_uc001kna.2_Missense_Mutation_p.S22F|ARHGAP19_uc009xvi.2_RNA|ARHGAP19_uc009xvj.2_Missense_Mutation_p.S31F|ARHGAP19_uc009xvk.2_Intron	p.S31F	NM_032900	NP_116289	Q14CB8	RHG19_HUMAN		Epithelial(162;7.65e-09)|all cancers(201;4.49e-07)	2	121	-		Colorectal(252;0.0854)	31					A1XCP1|B4DZR1|Q14CF2|Q5J8M2|Q5T460|Q5T462|Q68DG6|Q8N9X1|Q8NF34|Q8TEK1	Missense_Mutation	SNP	ENST00000358531.4	37	c.92C>T	CCDS7454.2	.	.	.	.	.	.	.	.	.	.	G	21.3	4.131674	0.77662	.	.	ENSG00000213390	ENST00000453547;ENST00000316676;ENST00000355366;ENST00000358531;ENST00000371027;ENST00000358308	T;T;T;T;T;T	0.10763	2.96;2.99;3.01;3.0;3.02;2.84	5.54	5.54	0.83059	.	0.573314	0.14996	U	0.286371	T	0.16085	0.0387	N	0.19112	0.55	0.41763	D	0.989721	P;P;P	0.48503	0.911;0.802;0.875	P;B;P	0.50617	0.568;0.444;0.646	T	0.06463	-1.0825	10	0.87932	D	0	-10.9662	19.4669	0.94946	0.0:0.0:1.0:0.0	.	31;31;22	Q14CB8-6;Q14CB8;Q14CB8-3	.;RHG19_HUMAN;.	F	31;31;22;31;22;31	ENSP00000414774:S31F;ENSP00000324468:S31F;ENSP00000347526:S22F;ENSP00000351333:S31F;ENSP00000360066:S22F;ENSP00000351058:S31F	ENSP00000324468:S31F	S	-	2	0	ARHGAP19	99015837	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	3.900000	0.56295	2.581000	0.87130	0.557000	0.71058	TCT		PASS	0.393	ARHGAP19-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049647.2	NM_032900		53	70	53	70	---	---	---	---
SEC31B	25956	broad.mit.edu	37	10	102256950	102256950	+	Missense_Mutation	SNP	T	T	C			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr10:102256950T>C	ENST00000370345.3	-	17	2175	c.2078A>G	c.(2077-2079)gAg>gGg	p.E693G	SEC31B_ENST00000494350.1_5'Flank	NM_015490.3	NP_056305.1	Q9NQW1	SC31B_HUMAN	SEC31 homolog B (S. cerevisiae)	693					protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	endoplasmic reticulum (GO:0005783)|vesicle coat (GO:0030120)		p.E693G(1)		NS(1)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(3)|lung(17)|ovary(1)|urinary_tract(1)	36		Colorectal(252;0.117)		Epithelial(162;2.36e-10)|all cancers(201;2.09e-08)		CACCAGCCGCTCCACACTCCC	0.607																																						uc001krc.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(2077-2079)GAG>GGG		SEC31 homolog B							81.0	74.0	76.0					10																	102256950		2203	4300	6503	SO:0001583	missense	25956				protein transport|vesicle-mediated transport	endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane		g.chr10:102256950T>C	AF274863	CCDS7495.1	10q24.32	2013-01-10	2006-10-05	2006-09-07	ENSG00000075826	ENSG00000075826		"""WD repeat domain containing"""	23197	protein-coding gene	gene with protein product		610258	"""SEC31-like 2 (S. cerevisiae)"""	SEC31L2		16495487	Standard	NM_015490		Approved	SEC31B-1, DKFZP434M183	uc001krc.1	Q9NQW1	OTTHUMG00000019342	ENST00000370345.3:c.2078A>G	10.37:g.102256950T>C	ENSP00000359370:p.Glu693Gly					SEC31B_uc010qpo.1_Missense_Mutation_p.E692G|SEC31B_uc001krd.1_Missense_Mutation_p.E230G|SEC31B_uc001krf.1_Missense_Mutation_p.E230G|SEC31B_uc001kre.1_Missense_Mutation_p.E230G|SEC31B_uc001krg.1_Missense_Mutation_p.E262G	p.E693G	NM_015490	NP_056305	Q9NQW1	SC31B_HUMAN		Epithelial(162;2.36e-10)|all cancers(201;2.09e-08)	17	2180	-		Colorectal(252;0.117)	693			WD 7.		B7ZM75|Q6MZS3|Q86UF0|Q9Y4Q8	Missense_Mutation	SNP	ENST00000370345.3	37	c.2078A>G	CCDS7495.1	.	.	.	.	.	.	.	.	.	.	t	26.8	4.769861	0.90020	.	.	ENSG00000075826	ENST00000370345	T	0.59502	0.26	5.1	5.1	0.69264	.	0.000000	0.85682	D	0.000000	T	0.79851	0.4517	M	0.90483	3.12	0.80722	D	1	D;D	0.89917	1.0;0.998	D;D	0.83275	0.996;0.987	D	0.84323	0.0517	10	0.72032	D	0.01	-19.8931	14.0835	0.64939	0.0:0.0:0.0:1.0	.	692;693	Q9NQW1-5;Q9NQW1	.;SC31B_HUMAN	G	693	ENSP00000359370:E693G	ENSP00000359370:E693G	E	-	2	0	SEC31B	102246940	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	7.857000	0.86963	1.946000	0.56461	0.449000	0.29647	GAG		PASS	0.607	SEC31B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051198.1	NM_015490		50	47	50	47	---	---	---	---
INA	9118	broad.mit.edu	37	10	105036977	105036977	+	Missense_Mutation	SNP	C	C	G	rs569324079		TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr10:105036977C>G	ENST00000369849.4	+	1	58	c.9C>G	c.(7-9)ttC>ttG	p.F3L		NM_032727.3	NP_116116.1	Q16352	AINX_HUMAN	internexin neuronal intermediate filament protein, alpha	3	Head.				cell differentiation (GO:0030154)|neurofilament cytoskeleton organization (GO:0060052)|substantia nigra development (GO:0021762)	cytoplasmic ribonucleoprotein granule (GO:0036464)|extracellular space (GO:0005615)|neurofilament (GO:0005883)	structural constituent of cytoskeleton (GO:0005200)	p.F3L(1)		breast(2)|endometrium(2)|large_intestine(2)|lung(4)|ovary(1)|prostate(2)	13				Epithelial(162;3.45e-09)|all cancers(201;9.17e-08)|BRCA - Breast invasive adenocarcinoma(275;0.198)		CCATGAGCTTCGGCTCGGAGC	0.721																																						uc001kws.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|breast(1)	2						c.(7-9)TTC>TTG		internexin neuronal intermediate filament							18.0	20.0	20.0					10																	105036977		2030	4015	6045	SO:0001583	missense	9118				cell differentiation|nervous system development	neurofilament	structural constituent of cytoskeleton	g.chr10:105036977C>G	S78296	CCDS7545.1	10q24	2013-01-16			ENSG00000148798	ENSG00000148798		"""Intermediate filaments type IV"""	6057	protein-coding gene	gene with protein product		605338		NEF5		7769995	Standard	NM_032727		Approved	NF-66	uc001kws.3	Q16352	OTTHUMG00000018986	ENST00000369849.4:c.9C>G	10.37:g.105036977C>G	ENSP00000358865:p.Phe3Leu					uc001kwr.2_5'Flank|INA_uc009xxj.2_Missense_Mutation_p.F3L	p.F3L	NM_032727	NP_116116	Q16352	AINX_HUMAN		Epithelial(162;3.45e-09)|all cancers(201;9.17e-08)|BRCA - Breast invasive adenocarcinoma(275;0.198)	1	58	+			3			Head.		B1AQK0|Q9BRC5	Missense_Mutation	SNP	ENST00000369849.4	37	c.9C>G	CCDS7545.1	.	.	.	.	.	.	.	.	.	.	C	16.84	3.233304	0.58886	.	.	ENSG00000148798	ENST00000369849	D	0.83837	-1.77	3.82	2.91	0.33838	.	0.065898	0.64402	D	0.000006	T	0.70474	0.3228	N	0.19112	0.55	0.38121	D	0.937852	B	0.18166	0.026	B	0.17722	0.019	T	0.68891	-0.5289	10	0.66056	D	0.02	.	10.3601	0.43989	0.0:0.8999:0.0:0.1001	.	3	Q16352	AINX_HUMAN	L	3	ENSP00000358865:F3L	ENSP00000358865:F3L	F	+	3	2	INA	105026967	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	1.847000	0.39299	0.941000	0.37499	0.462000	0.41574	TTC		PASS	0.721	INA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050145.1	NM_032727		15	25	15	25	---	---	---	---
PDCD11	22984	broad.mit.edu	37	10	105178383	105178384	+	Missense_Mutation	DNP	GG	GG	TT			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr10:105178383_105178384GG>TT	ENST00000369797.3	+	15	2192_2193	c.2098_2099GG>TT	c.(2098-2100)GGg>TTg	p.G700L		NM_014976.1	NP_055791.1	Q14690	RRP5_HUMAN	programmed cell death 11	700	S1 motif 7. {ECO:0000255|PROSITE- ProRule:PRU00180}.				mRNA processing (GO:0006397)|rRNA processing (GO:0006364)	cytosol (GO:0005829)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|transcription factor binding (GO:0008134)	p.G700W(1)|p.G700V(1)|p.G700L(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|lung(29)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	64		Colorectal(252;0.0747)|Breast(234;0.128)		Epithelial(162;7.21e-09)|all cancers(201;1.17e-08)|BRCA - Breast invasive adenocarcinoma(275;0.208)		CCAGAGCGAGGGGCGTGTTGTA	0.545																																						uc001kwy.1																			3	Substitution - Missense(3)		lung(3)	ovary(2)|breast(2)|skin(2)|central_nervous_system(1)	7						c.(2098-2100)GGG>TGG|c.(2098-2100)GGG>GTG		programmed cell death 11																																				SO:0001583	missense	22984				mRNA processing|rRNA processing	nucleolus	RNA binding|transcription factor binding	g.chr10:105178383G>T|g.chr10:105178384G>T	D80007	CCDS31276.1	10q24.32	2010-07-06			ENSG00000148843	ENSG00000148843			13408	protein-coding gene	gene with protein product		612333				10229231	Standard	XM_005269647		Approved	KIAA0185, ALG-4, RRP5	uc001kwy.1	Q14690	OTTHUMG00000018988	Exception_encountered	10.37:g.105178383_105178384delinsTT	ENSP00000358812:p.Gly700Leu						p.G700W|p.G700V	NM_014976	NP_055791	Q14690	RRP5_HUMAN		Epithelial(162;7.21e-09)|all cancers(201;1.17e-08)|BRCA - Breast invasive adenocarcinoma(275;0.208)	15	2185|2186	+		Colorectal(252;0.0747)|Breast(234;0.128)	700			S1 motif 7.		Q2TA92|Q5W093|Q6P2J3|Q86VQ8|Q9H4P1	Missense_Mutation	SNP	ENST00000369797.3	37	c.2098G>T|c.2099G>T	CCDS31276.1																																																																																				PASS	0.545	PDCD11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050151.1			20	47	20	47	---	---	---	---
OBFC1	79991	broad.mit.edu	37	10	105648830	105648830	+	Splice_Site	SNP	G	G	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr10:105648830G>A	ENST00000224950.3	-	9	1116	c.949C>T	c.(949-951)Cac>Tac	p.H317Y	OBFC1_ENST00000466828.1_5'UTR|OBFC1_ENST00000369764.1_Splice_Site_p.H317Y	NM_024928.4	NP_079204.2	Q9H668	STN1_HUMAN	oligonucleotide/oligosaccharide-binding fold containing 1	317	Winged helix-turn-helix (wHTH) 2.				positive regulation of DNA replication (GO:0045740)|telomere maintenance (GO:0000723)|telomere maintenance via telomere lengthening (GO:0010833)	intermediate filament cytoskeleton (GO:0045111)|intracellular membrane-bounded organelle (GO:0043231)|nuclear chromosome, telomeric region (GO:0000784)|nucleolus (GO:0005730)|nucleus (GO:0005634)|Stn1-Ten1 complex (GO:0070188)	single-stranded DNA binding (GO:0003697)|single-stranded telomeric DNA binding (GO:0043047)	p.H317Y(2)		large_intestine(3)|lung(7)|ovary(1)|pancreas(2)	13		Colorectal(252;0.178)		Epithelial(162;3.39e-10)|all cancers(201;1.32e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0151)		TACCACTTACGATTTGGTTTC	0.498																																						uc001kxl.2																			2	Substitution - Missense(2)		large_intestine(1)|lung(1)	ovary(1)	1						c.(949-951)CAC>TAC		oligonucleotide/oligosaccharide-binding fold							161.0	152.0	155.0					10																	105648830		2203	4300	6503	SO:0001630	splice_region_variant	79991				positive regulation of DNA replication|telomere maintenance via telomere lengthening		protein binding|single-stranded telomeric DNA binding	g.chr10:105648830G>A	BC017400	CCDS7552.1	10q25.1	2011-06-14				ENSG00000107960			26200	protein-coding gene	gene with protein product		613128				12477932	Standard	NM_024928		Approved	FLJ22559, bA541N10.2	uc001kxm.3	Q9H668		ENST00000224950.3:c.949+1C>T	10.37:g.105648830G>A						OBFC1_uc001kxm.2_Missense_Mutation_p.H317Y|OBFC1_uc001kxn.2_RNA	p.H317Y	NM_024928	NP_079204	Q9H668	STN1_HUMAN		Epithelial(162;3.39e-10)|all cancers(201;1.32e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0151)	8	1024	-		Colorectal(252;0.178)	317					D3DR99|Q5TCZ0	Missense_Mutation	SNP	ENST00000224950.3	37	c.949C>T	CCDS7552.1	.	.	.	.	.	.	.	.	.	.	G	10.21	1.287058	0.23478	.	.	ENSG00000107960	ENST00000224950;ENST00000369764	T;T	0.45276	0.9;0.9	5.25	4.34	0.51931	Domain of unknown function DUF1879, CTS complex STN1 subunit (1);	0.477946	0.24901	N	0.034691	T	0.37019	0.0988	L	0.55834	1.745	0.46927	D	0.999255	B	0.19817	0.039	B	0.15484	0.013	T	0.13072	-1.0523	9	.	.	.	-1.636	11.9209	0.52791	0.0861:0.0:0.9139:0.0	.	317	Q9H668	STN1_HUMAN	Y	317	ENSP00000224950:H317Y;ENSP00000358779:H317Y	.	H	-	1	0	OBFC1	105638820	1.000000	0.71417	0.951000	0.38953	0.880000	0.50808	4.332000	0.59279	1.186000	0.42985	0.561000	0.74099	CAC		PASS	0.498	OBFC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050174.1	NM_024928	Missense_Mutation	42	118	42	118	---	---	---	---
CFAP43	80217	broad.mit.edu	37	10	105971806	105971806	+	Missense_Mutation	SNP	C	C	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr10:105971806C>A	ENST00000278064.2	-	5	809	c.484G>T	c.(484-486)Gcc>Tcc	p.A162S	WDR96_ENST00000369720.1_Missense_Mutation_p.A162S|WDR96_ENST00000357060.3_Missense_Mutation_p.A232S|WDR96_ENST00000428666.1_Missense_Mutation_p.A232S|WDR96_ENST00000369719.1_Missense_Mutation_p.A162S														p.A232S(1)		NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(14)|lung(21)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						CCGGCAATGGCTGACAGTGGC	0.502																																						uc001kxw.2																			1	Substitution - Missense(1)		lung(1)		0						c.(694-696)GCC>TCC		hypothetical protein LOC80217							78.0	73.0	75.0					10																	105971806		2203	4300	6503	SO:0001583	missense	80217							g.chr10:105971806C>A																												ENST00000278064.2:c.484G>T	10.37:g.105971806C>A	ENSP00000278064:p.Ala162Ser					C10orf79_uc001kxx.3_Missense_Mutation_p.A232S|C10orf79_uc001kxy.1_Missense_Mutation_p.A232S|C10orf79_uc001kxz.2_Missense_Mutation_p.A232S	p.A232S	NM_025145	NP_079421	Q8NDM7	WDR96_HUMAN		Epithelial(162;4.83e-10)|all cancers(201;2.26e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0194)	5	810	-		Colorectal(252;0.178)	232						Missense_Mutation	SNP	ENST00000278064.2	37	c.694G>T		.	.	.	.	.	.	.	.	.	.	C	14.60	2.582379	0.46006	.	.	ENSG00000197748	ENST00000357060;ENST00000428666;ENST00000278064;ENST00000369720;ENST00000369719	T;T;T;T;T	0.58506	2.01;1.99;1.91;0.94;0.33	5.51	3.58	0.41010	WD40 repeat-like-containing domain (1);	0.000000	0.37955	N	0.001861	T	0.57770	0.2076	L	0.52011	1.625	0.41128	D	0.985866	D;D;D	0.67145	0.996;0.991;0.98	P;P;P	0.59056	0.778;0.851;0.717	T	0.60475	-0.7256	10	0.05351	T	0.99	.	9.6037	0.39622	0.1413:0.7826:0.0:0.0761	.	232;232;232	Q8NDM7-5;B4DHB6;Q8NDM7	.;.;WDR96_HUMAN	S	232;232;162;162;162	ENSP00000349568:A232S;ENSP00000400289:A232S;ENSP00000278064:A162S;ENSP00000358734:A162S;ENSP00000358733:A162S	ENSP00000278064:A162S	A	-	1	0	WDR96	105961796	0.979000	0.34478	0.969000	0.41365	0.067000	0.16453	2.243000	0.43115	1.324000	0.45282	0.655000	0.94253	GCC		PASS	0.502	WDR96-003	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000050200.1			20	81	20	81	---	---	---	---
CFAP58	159686	broad.mit.edu	37	10	106121841	106121841	+	Nonsense_Mutation	SNP	G	G	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr10:106121841G>T	ENST00000369704.3	+	3	486	c.352G>T	c.(352-354)Gag>Tag	p.E118*	CCDC147_ENST00000312902.5_5'UTR	NM_001008723.1	NP_001008723.1	Q5T655	CC147_HUMAN		118						extracellular space (GO:0005615)		p.E118*(1)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(3)|pancreas(1)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	52		Colorectal(252;0.103)|Breast(234;0.122)		Epithelial(162;7.55e-10)|all cancers(201;3.37e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0189)		GAAGGCCAAGGAGACGATTCT	0.478																																						uc001kyh.2																			1	Substitution - Nonsense(1)		lung(1)	ovary(2)|central_nervous_system(2)|skin(1)	5						c.(352-354)GAG>TAG		coiled-coil domain containing 147							151.0	135.0	140.0					10																	106121841		2203	4300	6503	SO:0001587	stop_gained	159686							g.chr10:106121841G>T																												ENST00000369704.3:c.352G>T	10.37:g.106121841G>T	ENSP00000358718:p.Glu118*						p.E118*	NM_001008723	NP_001008723	Q5T655	CC147_HUMAN		Epithelial(162;7.55e-10)|all cancers(201;3.37e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0189)	3	486	+		Colorectal(252;0.103)|Breast(234;0.122)	118			Potential.		D3DRA6|Q8NA27	Nonsense_Mutation	SNP	ENST00000369704.3	37	c.352G>T	CCDS31282.1	.	.	.	.	.	.	.	.	.	.	G	39	7.357837	0.98235	.	.	ENSG00000120051	ENST00000369704	.	.	.	6.17	6.17	0.99709	.	0.090236	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.27082	T	0.32	-18.3649	20.8794	0.99867	0.0:0.0:1.0:0.0	.	.	.	.	X	118	.	ENSP00000358718:E118X	E	+	1	0	CCDC147	106111831	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	6.488000	0.73637	2.941000	0.99782	0.655000	0.94253	GAG		PASS	0.478	CCDC147-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050216.1			20	77	20	77	---	---	---	---
SORCS1	114815	broad.mit.edu	37	10	108439016	108439016	+	Missense_Mutation	SNP	G	G	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr10:108439016G>T	ENST00000263054.6	-	12	1745	c.1738C>A	c.(1738-1740)Cag>Aag	p.Q580K	SORCS1_ENST00000344440.6_Missense_Mutation_p.Q580K|SORCS1_ENST00000369698.1_Missense_Mutation_p.Q115K	NM_001206570.1|NM_052918.4	NP_001193499.1|NP_443150.3	Q8WY21	SORC1_HUMAN	sortilin-related VPS10 domain containing receptor 1	580					neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|membrane (GO:0016020)	neuropeptide receptor activity (GO:0008188)	p.Q580K(2)|p.Q580E(2)		breast(5)|central_nervous_system(1)|cervix(2)|endometrium(9)|kidney(2)|large_intestine(24)|lung(69)|ovary(1)|prostate(8)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	127		Breast(234;0.0256)|Colorectal(252;0.09)|Lung NSC(174;0.168)		Epithelial(162;1.66e-05)|all cancers(201;0.000689)		TTTCTTACCTGTCTCCAGGTG	0.418																																						uc001kym.2																			4	Substitution - Missense(4)		lung(4)	breast(1)|central_nervous_system(1)	2						c.(1738-1740)CAG>AAG		SORCS receptor 1 isoform a							96.0	98.0	97.0					10																	108439016		2203	4300	6503	SO:0001583	missense	114815					integral to membrane	neuropeptide receptor activity|protein binding	g.chr10:108439016G>T	AF284756	CCDS7559.1	10q23-q25	2004-04-20			ENSG00000108018	ENSG00000108018			16697	protein-coding gene	gene with protein product		606283				11499680	Standard	NM_001206570		Approved	sorCS1	uc001kyl.3	Q8WY21	OTTHUMG00000019018	ENST00000263054.6:c.1738C>A	10.37:g.108439016G>T	ENSP00000263054:p.Gln580Lys					SORCS1_uc001kyl.2_Missense_Mutation_p.Q580K|SORCS1_uc009xxs.2_Missense_Mutation_p.Q580K|SORCS1_uc001kyn.1_Missense_Mutation_p.Q580K|SORCS1_uc001kyo.2_Missense_Mutation_p.Q580K	p.Q580K	NM_052918	NP_443150	Q8WY21	SORC1_HUMAN		Epithelial(162;1.66e-05)|all cancers(201;0.000689)	12	1746	-		Breast(234;0.0256)|Colorectal(252;0.09)|Lung NSC(174;0.168)	580			Lumenal (Potential).|BNR 4.		A2RRF4|Q59GG7|Q5JVT7|Q5JVT8|Q5VY14|Q86WQ1|Q86WQ2|Q9H1Y1|Q9H1Y2	Missense_Mutation	SNP	ENST00000263054.6	37	c.1738C>A	CCDS7559.1	.	.	.	.	.	.	.	.	.	.	G	16.45	3.127241	0.56721	.	.	ENSG00000108018	ENST00000369698;ENST00000263054;ENST00000344440	T;T;T	0.28454	1.61;1.61;1.61	5.81	5.81	0.92471	VPS10 (1);	0.062796	0.64402	D	0.000004	T	0.27933	0.0688	L	0.28054	0.825	0.51482	D	0.999921	B;B;B;B;B	0.23990	0.058;0.095;0.095;0.058;0.095	B;B;B;B;B	0.30855	0.056;0.121;0.121;0.056;0.121	T	0.05037	-1.0910	9	.	.	.	-20.0979	20.0833	0.97789	0.0:0.0:1.0:0.0	.	580;580;580;580;580	A8K182;Q8WY21-4;Q8WY21-3;Q8WY21;Q8WY21-2	.;.;.;SORC1_HUMAN;.	K	115;580;580	ENSP00000358712:Q115K;ENSP00000263054:Q580K;ENSP00000345964:Q580K	.	Q	-	1	0	SORCS1	108429006	1.000000	0.71417	0.998000	0.56505	0.892000	0.51952	5.290000	0.65661	2.756000	0.94617	0.655000	0.94253	CAG		PASS	0.418	SORCS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050232.4	NM_052918		61	85	61	85	---	---	---	---
SORCS1	114815	broad.mit.edu	37	10	108589406	108589406	+	Missense_Mutation	SNP	C	C	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr10:108589406C>T	ENST00000263054.6	-	3	659	c.652G>A	c.(652-654)Gag>Aag	p.E218K	SORCS1_ENST00000344440.6_Missense_Mutation_p.E218K	NM_001206570.1|NM_052918.4	NP_001193499.1|NP_443150.3	Q8WY21	SORC1_HUMAN	sortilin-related VPS10 domain containing receptor 1	218					neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|membrane (GO:0016020)	neuropeptide receptor activity (GO:0008188)	p.E218K(2)|p.E218Q(2)		breast(5)|central_nervous_system(1)|cervix(2)|endometrium(9)|kidney(2)|large_intestine(24)|lung(69)|ovary(1)|prostate(8)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	127		Breast(234;0.0256)|Colorectal(252;0.09)|Lung NSC(174;0.168)		Epithelial(162;1.66e-05)|all cancers(201;0.000689)		TTCAGCTTCTCATAGGTTGTT	0.363																																						uc001kym.2																			4	Substitution - Missense(4)		lung(4)	breast(1)|central_nervous_system(1)	2						c.(652-654)GAG>AAG		SORCS receptor 1 isoform a							157.0	142.0	147.0					10																	108589406		2203	4300	6503	SO:0001583	missense	114815					integral to membrane	neuropeptide receptor activity|protein binding	g.chr10:108589406C>T	AF284756	CCDS7559.1	10q23-q25	2004-04-20			ENSG00000108018	ENSG00000108018			16697	protein-coding gene	gene with protein product		606283				11499680	Standard	NM_001206570		Approved	sorCS1	uc001kyl.3	Q8WY21	OTTHUMG00000019018	ENST00000263054.6:c.652G>A	10.37:g.108589406C>T	ENSP00000263054:p.Glu218Lys					SORCS1_uc001kyl.2_Missense_Mutation_p.E218K|SORCS1_uc009xxs.2_Missense_Mutation_p.E218K|SORCS1_uc001kyn.1_Missense_Mutation_p.E218K|SORCS1_uc001kyo.2_Missense_Mutation_p.E218K	p.E218K	NM_052918	NP_443150	Q8WY21	SORC1_HUMAN		Epithelial(162;1.66e-05)|all cancers(201;0.000689)	3	660	-		Breast(234;0.0256)|Colorectal(252;0.09)|Lung NSC(174;0.168)	218			Lumenal (Potential).|BNR 1.		A2RRF4|Q59GG7|Q5JVT7|Q5JVT8|Q5VY14|Q86WQ1|Q86WQ2|Q9H1Y1|Q9H1Y2	Missense_Mutation	SNP	ENST00000263054.6	37	c.652G>A	CCDS7559.1	.	.	.	.	.	.	.	.	.	.	C	19.41	3.821716	0.71028	.	.	ENSG00000108018	ENST00000263054;ENST00000344440	T;T	0.21932	1.98;1.98	5.45	5.45	0.79879	VPS10 (1);	0.000000	0.85682	D	0.000000	T	0.32675	0.0837	L	0.60455	1.87	0.47276	D	0.999376	P;P;P;P;P	0.46457	0.807;0.878;0.878;0.807;0.878	B;P;P;B;P	0.47402	0.344;0.546;0.546;0.344;0.546	T	0.01108	-1.1449	9	.	.	.	-26.6097	19.6556	0.95837	0.0:1.0:0.0:0.0	.	218;218;218;218;218	A8K182;Q8WY21-4;Q8WY21-3;Q8WY21;Q8WY21-2	.;.;.;SORC1_HUMAN;.	K	218	ENSP00000263054:E218K;ENSP00000345964:E218K	.	E	-	1	0	SORCS1	108579396	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.605000	0.61119	2.725000	0.93324	0.655000	0.94253	GAG		PASS	0.363	SORCS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050232.4	NM_052918		66	116	66	116	---	---	---	---
ABLIM1	3983	broad.mit.edu	37	10	116361718	116361718	+	Missense_Mutation	SNP	C	C	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr10:116361718C>A	ENST00000277895.5	-	2	344	c.247G>T	c.(247-249)Gcc>Tcc	p.A83S	ABLIM1_ENST00000533213.2_Missense_Mutation_p.A23S|ABLIM1_ENST00000477638.1_5'UTR|ABLIM1_ENST00000369252.4_Missense_Mutation_p.A23S	NM_002313.5	NP_002304.3	O14639	ABLM1_HUMAN	actin binding LIM protein 1	83					axon guidance (GO:0007411)|cilium assembly (GO:0042384)|cytoskeleton organization (GO:0007010)|lamellipodium assembly (GO:0030032)|organ morphogenesis (GO:0009887)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|visual perception (GO:0007601)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|lamellipodium (GO:0030027)|stress fiber (GO:0001725)	actin binding (GO:0003779)|zinc ion binding (GO:0008270)	p.A23S(1)|p.A83S(1)		breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	30		Colorectal(252;0.0373)|Breast(234;0.231)		Epithelial(162;0.0132)|all cancers(201;0.0383)		TGAGGGTGGGCCACTGAAAGA	0.493																																						uc010qsg.1																			2	Substitution - Missense(2)		lung(2)	breast(1)	1						c.(247-249)GCC>TCC		actin-binding LIM protein 1 isoform a							74.0	72.0	73.0					10																	116361718		2203	4300	6503	SO:0001583	missense	3983				axon guidance|cytoskeleton organization|organ morphogenesis|visual perception	actin cytoskeleton|cytoplasm	actin binding|zinc ion binding	g.chr10:116361718C>A	AF005654	CCDS7590.1, CCDS31289.1	10q25	2008-07-07		2002-09-13	ENSG00000099204	ENSG00000099204			78	protein-coding gene	gene with protein product		602330		LIMAB1, ABLIM		9245787	Standard	NM_002313		Approved	abLIM, limatin	uc021pyw.1	O14639	OTTHUMG00000019088	ENST00000277895.5:c.247G>T	10.37:g.116361718C>A	ENSP00000277895:p.Ala83Ser					ABLIM1_uc010qsh.1_Missense_Mutation_p.A23S|ABLIM1_uc010qsi.1_Missense_Mutation_p.A23S|ABLIM1_uc010qsk.1_Missense_Mutation_p.A7S|ABLIM1_uc009xyp.2_Missense_Mutation_p.A17S|ABLIM1_uc001lbz.1_Missense_Mutation_p.A6S	p.A83S	NM_002313	NP_002304	O14639	ABLM1_HUMAN		Epithelial(162;0.0132)|all cancers(201;0.0383)	2	346	-		Colorectal(252;0.0373)|Breast(234;0.231)	83					A6NI16|A6NJ06|A8MXA9|B3KVH2|Q15039|Q5JVV1|Q5JVV2|Q5T6N2|Q5T6N3|Q5T6N5|Q68CQ9|Q9BUP1	Missense_Mutation	SNP	ENST00000277895.5	37	c.247G>T	CCDS7590.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	11.11|11.11	1.541785|1.541785	0.27563|0.27563	.|.	.|.	ENSG00000099204|ENSG00000099204	ENST00000336585;ENST00000369252;ENST00000369267;ENST00000533213;ENST00000369262;ENST00000369263;ENST00000369256;ENST00000369260;ENST00000277895|ENST00000392955	T;T;T|.	0.27104|.	1.76;1.76;1.69|.	5.64|5.64	4.74|4.74	0.60224|0.60224	.|.	0.284426|.	0.39083|.	N|.	0.001471|.	T|T	0.35508|0.35508	0.0934|0.0934	N|N	0.08118|0.08118	0|0	0.80722|0.80722	D|D	1|1	D;D;B;B;B;B|.	0.76494|.	0.992;0.999;0.425;0.001;0.125;0.257|.	P;D;B;B;B;B|.	0.85130|.	0.715;0.997;0.146;0.004;0.05;0.124|.	T|T	0.18335|0.18335	-1.0340|-1.0340	10|5	0.05351|.	T|.	0.99|.	.|.	11.7083|11.7083	0.51610|0.51610	0.1387:0.7278:0.1334:0.0|0.1387:0.7278:0.1334:0.0	.|.	7;23;23;83;23;83|.	B7Z4H1;F8W8M4;A6NKJ2;O14639;B3KVH2;A6NCD9|.	.;.;.;ABLM1_HUMAN;.;.|.	S|C	83;23;23;23;83;7;7;7;83|18	ENSP00000358256:A23S;ENSP00000433629:A23S;ENSP00000277895:A83S|.	ENSP00000277895:A83S|.	A|W	-|-	1|3	0|0	ABLIM1|ABLIM1	116351708|116351708	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.947000|0.947000	0.59692|0.59692	3.709000|3.709000	0.54853|0.54853	1.371000|1.371000	0.46172|0.46172	0.655000|0.655000	0.94253|0.94253	GCC|TGG		PASS	0.493	ABLIM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050469.3			20	69	20	69	---	---	---	---
ATRNL1	26033	broad.mit.edu	37	10	117154178	117154178	+	Missense_Mutation	SNP	G	G	C			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr10:117154178G>C	ENST00000355044.3	+	20	3311	c.3185G>C	c.(3184-3186)tGc>tCc	p.C1062S	ATRNL1_ENST00000303745.7_5'UTR|ATRNL1_ENST00000423111.2_Missense_Mutation_p.C113S	NM_207303.2	NP_997186.1	Q5VV63	ATRN1_HUMAN	attractin-like 1	1062	Laminin EGF-like 2. {ECO:0000255|PROSITE- ProRule:PRU00460}.				G-protein coupled receptor signaling pathway (GO:0007186)|multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|receptor activity (GO:0004872)	p.C1062S(1)		NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(11)|liver(2)|lung(44)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_lung(145;0.0686)|Breast(234;0.0969)|Lung NSC(174;0.17)|Colorectal(252;0.234)		Epithelial(162;0.00031)|all cancers(201;0.000753)|LUSC - Lung squamous cell carcinoma(1;0.0515)|Lung(30;0.0827)		GCTTGTACATGCAGTGGCCAT	0.328																																						uc001lcg.2																			1	Substitution - Missense(1)		lung(1)	ovary(5)|lung(1)|central_nervous_system(1)	7						c.(3184-3186)TGC>TCC		attractin-like 1 precursor							144.0	130.0	135.0					10																	117154178		2203	4300	6503	SO:0001583	missense	26033					integral to membrane	sugar binding	g.chr10:117154178G>C	AB011106	CCDS7592.1, CCDS73204.1	10q26	2004-03-04			ENSG00000107518	ENSG00000107518			29063	protein-coding gene	gene with protein product		612869				9628581	Standard	NM_001276282		Approved	KIAA0534, FLJ45344, ALP	uc001lcg.3	Q5VV63	OTTHUMG00000019096	ENST00000355044.3:c.3185G>C	10.37:g.117154178G>C	ENSP00000347152:p.Cys1062Ser					ATRNL1_uc010qsm.1_Missense_Mutation_p.C191S|ATRNL1_uc010qsn.1_RNA	p.C1062S	NM_207303	NP_997186	Q5VV63	ATRN1_HUMAN		Epithelial(162;0.00031)|all cancers(201;0.000753)|LUSC - Lung squamous cell carcinoma(1;0.0515)|Lung(30;0.0827)	20	3571	+		all_lung(145;0.0686)|Breast(234;0.0969)|Lung NSC(174;0.17)|Colorectal(252;0.234)	1062			Laminin EGF-like 2.|Extracellular (Potential).		O60283|Q5JSE8|Q5T5Y9|Q6T256|Q6ZSN4|Q86WX2	Missense_Mutation	SNP	ENST00000355044.3	37	c.3185G>C	CCDS7592.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	21.4|21.4	4.138391|4.138391	0.77775|0.77775	.|.	.|.	ENSG00000107518|ENSG00000107518	ENST00000355044;ENST00000423111|ENST00000526373	T;D|.	0.83673|.	1.58;-1.75|.	5.61|5.61	5.61|5.61	0.85477|0.85477	EGF-like, laminin (2);|.	0.087093|.	0.85682|.	D|.	0.000000|.	D|D	0.86531|0.86531	0.5955|0.5955	H|H	0.94222|0.94222	3.51|3.51	0.80722|0.80722	D|D	1|1	D;D|.	0.63880|.	0.993;0.993|.	D;D|.	0.72338|.	0.977;0.977|.	D|D	0.89807|0.89807	0.3979|0.3979	10|5	0.62326|.	D|.	0.03|.	-14.2755|-14.2755	15.1377|15.1377	0.72583|0.72583	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	113;1062|.	B4DH41;Q5VV63|.	.;ATRN1_HUMAN|.	S|I	1062;113|145	ENSP00000347152:C1062S;ENSP00000409624:C113S|.	ENSP00000347152:C1062S|.	C|M	+|+	2|3	0|0	ATRNL1|ATRNL1	117144168|117144168	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	7.632000|7.632000	0.83247|0.83247	2.640000|2.640000	0.89533|0.89533	0.655000|0.655000	0.94253|0.94253	TGC|ATG		PASS	0.328	ATRNL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050507.3	XM_049349		32	45	32	45	---	---	---	---
PDZD8	118987	broad.mit.edu	37	10	119044377	119044377	+	Missense_Mutation	SNP	C	C	T	rs114690685		TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr10:119044377C>T	ENST00000334464.5	-	5	2106	c.1867G>A	c.(1867-1869)Gtg>Atg	p.V623M	PDZD8_ENST00000482496.1_5'UTR	NM_173791.3	NP_776152.1	Q8NEN9	PDZD8_HUMAN	PDZ domain containing 8	623	Pro-rich.				cytoskeleton organization (GO:0007010)|intracellular signal transduction (GO:0035556)|regulation of cell morphogenesis (GO:0022604)|viral process (GO:0016032)	membrane (GO:0016020)	metal ion binding (GO:0046872)	p.V623M(1)		kidney(3)|large_intestine(8)|lung(24)|upper_aerodigestive_tract(3)	38		Colorectal(252;0.19)		all cancers(201;0.0121)		GGAGGTGGCACCACCTTCTCT	0.478													C|||	1	0.000199681	0.0	0.0	5008	,	,		20886	0.0		0.001	False		,,,				2504	0.0					uc001lde.1																			1	Substitution - Missense(1)		lung(1)		0						c.(1867-1869)GTG>ATG		PDZ domain containing 8							101.0	100.0	100.0					10																	119044377		2203	4300	6503	SO:0001583	missense	118987				intracellular signal transduction		metal ion binding	g.chr10:119044377C>T	AL122051	CCDS7600.1	10q26.12	2006-01-24		2006-01-24	ENSG00000165650	ENSG00000165650			26974	protein-coding gene	gene with protein product		614235		PDZK8		12477932	Standard	NM_173791		Approved	bA129M16.2, FLJ34427	uc001lde.1	Q8NEN9	OTTHUMG00000019122	ENST00000334464.5:c.1867G>A	10.37:g.119044377C>T	ENSP00000334642:p.Val623Met						p.V623M	NM_173791	NP_776152	Q8NEN9	PDZD8_HUMAN		all cancers(201;0.0121)	5	2066	-		Colorectal(252;0.19)	623			Pro-rich.		Q86WE0|Q86WE5|Q9UFF1	Missense_Mutation	SNP	ENST00000334464.5	37	c.1867G>A	CCDS7600.1	0	0.0	0	0.0	0	0.0	0	0.0	0	0.0	C	5.480	0.273536	0.10403	.	.	ENSG00000165650	ENST00000334464	D	0.85556	-2.0	5.61	4.71	0.59529	.	1.007950	0.07966	N	0.983256	T	0.75708	0.3886	N	0.08118	0	0.09310	N	1	B	0.12630	0.006	B	0.06405	0.002	T	0.61831	-0.6982	10	0.39692	T	0.17	7.7784	16.1654	0.81750	0.0:0.252:0.748:0.0	.	623	Q8NEN9	PDZD8_HUMAN	M	623	ENSP00000334642:V623M	ENSP00000334642:V623M	V	-	1	0	PDZD8	119034367	0.160000	0.22878	0.316000	0.25252	0.029000	0.11900	2.264000	0.43302	1.528000	0.49103	-0.197000	0.12766	GTG		PASS	0.478	PDZD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050565.1	NM_173791		74	104	74	104	---	---	---	---
RGS10	6001	broad.mit.edu	37	10	121286930	121286930	+	Missense_Mutation	SNP	T	T	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr10:121286930T>A	ENST00000369101.3	-	1	59	c.32A>T	c.(31-33)cAc>cTc	p.H11L	RGS10_ENST00000369103.2_Missense_Mutation_p.H19L|RGS10_ENST00000392865.1_Missense_Mutation_p.H5L|RGS10_ENST00000469575.1_5'Flank			O43665	RGS10_HUMAN	regulator of G-protein signaling 10	11					positive regulation of GTPase activity (GO:0043547)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	axon terminus (GO:0043679)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)	p.H19L(1)		breast(2)|large_intestine(1)|lung(3)	6		Lung NSC(174;0.094)|all_lung(145;0.123)		all cancers(201;0.00105)|GBM - Glioblastoma multiforme(135;0.195)		ATCGCTGTCGTGGATGTCTGC	0.537																																						uc001lee.2																			1	Substitution - Missense(1)		lung(1)		0						c.(31-33)CAC>CTC		regulator of G-protein signaling 10 isoform b							102.0	92.0	96.0					10																	121286930		2203	4300	6503	SO:0001583	missense	6001				negative regulation of signal transduction	cytoplasm|plasma membrane	GTPase activator activity|protein binding|signal transducer activity	g.chr10:121286930T>A	AF045229	CCDS31294.1, CCDS41572.1	10q25	2007-08-14	2007-08-14		ENSG00000148908	ENSG00000148908		"""Regulators of G-protein signaling"""	9992	protein-coding gene	gene with protein product		602856	"""regulator of G-protein signalling 10"""			8774883	Standard	NM_002925		Approved		uc001leg.3	O43665	OTTHUMG00000019150	ENST00000369101.3:c.32A>T	10.37:g.121286930T>A	ENSP00000358097:p.His11Leu					RGS10_uc001lef.2_Missense_Mutation_p.H5L|RGS10_uc001leg.2_Missense_Mutation_p.H19L	p.H11L	NM_002925	NP_002916	O43665	RGS10_HUMAN		all cancers(201;0.00105)|GBM - Glioblastoma multiforme(135;0.195)	1	32	-		Lung NSC(174;0.094)|all_lung(145;0.123)	11					A8K408|B1AMR8|Q6IAZ6|Q96GN0	Missense_Mutation	SNP	ENST00000369101.3	37	c.32A>T		.	.	.	.	.	.	.	.	.	.	T	14.75	2.627647	0.46944	.	.	ENSG00000148908	ENST00000392865;ENST00000369103;ENST00000369101	T;T;T	0.47869	0.83;0.9;0.93	5.63	4.49	0.54785	.	0.082222	0.49916	D	0.000125	T	0.25494	0.0620	N	0.08118	0	0.36557	D	0.872223	B;B;B	0.19583	0.018;0.018;0.037	B;B;B	0.19946	0.027;0.015;0.011	T	0.15896	-1.0421	10	0.20519	T	0.43	-8.9205	9.456	0.38756	0.0:0.0819:0.0:0.9181	.	19;5;11	O43665-3;O43665-2;O43665	.;.;RGS10_HUMAN	L	5;19;11	ENSP00000376605:H5L;ENSP00000358099:H19L;ENSP00000358097:H11L	ENSP00000358097:H11L	H	-	2	0	RGS10	121276920	0.997000	0.39634	0.808000	0.32385	0.723000	0.41478	3.000000	0.49481	1.072000	0.40860	0.450000	0.29827	CAC		PASS	0.537	RGS10-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000050655.1	NM_002925		29	40	29	40	---	---	---	---
PPAPDC1A	196051	broad.mit.edu	37	10	122348813	122348813	+	Splice_Site	SNP	A	A	G			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr10:122348813A>G	ENST00000398250.1	+	7	968		c.e7-1		PPAPDC1A_ENST00000398248.1_Splice_Site|PPAPDC1A_ENST00000439221.1_Splice_Site|PPAPDC1A_ENST00000369073.3_Splice_Site	NM_001030059.1	NP_001025230.1	Q5VZY2	PPC1A_HUMAN	phosphatidic acid phosphatase type 2 domain containing 1A						Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|phospholipid dephosphorylation (GO:0046839)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	phosphatidate phosphatase activity (GO:0008195)	p.?(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|urinary_tract(1)	20		Lung NSC(174;0.1)|all_lung(145;0.132)		all cancers(201;0.0117)		TTTCCTGCCTAGATTCCTTTG	0.453																																						uc001lev.1																			1	Unknown(1)		lung(1)	breast(1)	1						c.e7-2		phosphatidic acid phosphatase type 2 domain							160.0	162.0	161.0					10																	122348813		1935	4170	6105	SO:0001630	splice_region_variant	196051				phospholipid dephosphorylation	integral to membrane	phosphatidate phosphatase activity	g.chr10:122348813A>G	AK098668	CCDS41573.1	10q26.13	2008-02-05		2005-07-15	ENSG00000203805	ENSG00000203805			23531	protein-coding gene	gene with protein product			"""phosphatidic acid phosphatase type 2 domain containing 1"""	PPAPDC1			Standard	XM_005269592		Approved		uc001lev.1	Q5VZY2	OTTHUMG00000019168	ENST00000398250.1:c.617-1A>G	10.37:g.122348813A>G						PPAPDC1A_uc009xzl.1_Splice_Site_p.D143_splice|PPAPDC1A_uc001lew.1_Splice_Site|PPAPDC1A_uc001lex.1_Splice_Site_p.I56_splice|PPAPDC1A_uc001ley.1_Splice_Site_p.D85_splice	p.D206_splice	NM_001030059	NP_001025230	Q5VZY2	PPC1A_HUMAN		all cancers(201;0.0117)	7	969	+		Lung NSC(174;0.1)|all_lung(145;0.132)						A2RU82|Q08EQ2|Q0IIP2|Q495B4|Q5VZY1	Splice_Site	SNP	ENST00000398250.1	37	c.617_splice	CCDS41573.1	.	.	.	.	.	.	.	.	.	.	A	22.9	4.344308	0.82022	.	.	ENSG00000203805	ENST00000398248;ENST00000439221;ENST00000398250;ENST00000427079;ENST00000369073	.	.	.	5.53	5.53	0.82687	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.652	0.77104	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	PPAPDC1A	122338803	1.000000	0.71417	0.998000	0.56505	0.975000	0.68041	8.788000	0.91834	2.096000	0.63516	0.533000	0.62120	.		PASS	0.453	PPAPDC1A-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		XM_113641	Intron	45	175	45	175	---	---	---	---
EDRF1	26098	broad.mit.edu	37	10	127426970	127426970	+	Missense_Mutation	SNP	G	G	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr10:127426970G>T	ENST00000356792.4	+	15	2169	c.1937G>T	c.(1936-1938)gGt>gTt	p.G646V	C10orf137_ENST00000337623.3_Missense_Mutation_p.G612V	NM_001202438.1	NP_001189367.1	Q3B7T1	EDRF1_HUMAN		646					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)		p.G612V(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(12)|lung(20)|ovary(8)|pancreas(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	61		all_lung(145;0.0096)|Lung NSC(174;0.0145)|Colorectal(57;0.0846)|all_neural(114;0.0936)				TCAAGAGGGGGTCCCGAGGGG	0.433																																						uc001liq.1																			1	Substitution - Missense(1)		lung(1)	ovary(5)|large_intestine(3)|lung(2)	10						c.(1936-1938)GGT>GTT		erythroid differentiation-related factor 1							63.0	70.0	68.0					10																	127426970		2203	4300	6503	SO:0001583	missense	26098				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	binding	g.chr10:127426970G>T																												ENST00000356792.4:c.1937G>T	10.37:g.127426970G>T	ENSP00000349244:p.Gly646Val					C10orf137_uc001lin.2_Missense_Mutation_p.G612V|C10orf137_uc001lio.1_Missense_Mutation_p.G612V|C10orf137_uc001lip.1_Missense_Mutation_p.G350V|C10orf137_uc001lir.2_Missense_Mutation_p.G140V|C10orf137_uc001lis.1_5'Flank	p.G646V	NM_015608	NP_056423	Q3B7T1	EDRF1_HUMAN			15	2230	+		all_lung(145;0.0096)|Lung NSC(174;0.0145)|Colorectal(57;0.0846)|all_neural(114;0.0936)	646					B2RC65|Q3KR40|Q4G190|Q5VZQ4|Q8IZ74|Q9Y3W4	Missense_Mutation	SNP	ENST00000356792.4	37	c.1937G>T	CCDS55733.1	.	.	.	.	.	.	.	.	.	.	G	17.08	3.297040	0.60086	.	.	ENSG00000107938	ENST00000356792;ENST00000392732;ENST00000337623;ENST00000368813	T	0.52295	0.67	5.01	5.01	0.66863	.	0.351139	0.32736	N	0.005717	T	0.40272	0.1110	N	0.24115	0.695	0.58432	D	0.999996	P;P;B;P	0.46142	0.873;0.741;0.042;0.527	P;B;B;B	0.44990	0.466;0.426;0.093;0.334	T	0.15321	-1.0441	10	0.30854	T	0.27	.	16.7474	0.85476	0.0:0.0:1.0:0.0	.	646;646;612;646	F8W695;Q3B7T1;Q3B7T1-5;Q3B7T1-3	.;EDRF1_HUMAN;.;.	V	646;646;612;66	ENSP00000357803:G66V	ENSP00000336727:G612V	G	+	2	0	C10orf137	127416960	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	4.877000	0.63086	2.646000	0.89796	0.585000	0.79938	GGT		PASS	0.433	C10orf137-007	KNOWN	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000388539.1			55	112	55	112	---	---	---	---
DOCK1	1793	broad.mit.edu	37	10	128830580	128830580	+	Missense_Mutation	SNP	G	G	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr10:128830580G>T	ENST00000280333.6	+	18	1954	c.1845G>T	c.(1843-1845)caG>caT	p.Q615H		NM_001380.3	NP_001371.1	Q14185	DOCK1_HUMAN	dedicator of cytokinesis 1	615					apoptotic process (GO:0006915)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell migration (GO:0016477)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|hematopoietic progenitor cell differentiation (GO:0002244)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|phagocytosis, engulfment (GO:0006911)|positive regulation of GTPase activity (GO:0043547)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)	GTPase activator activity (GO:0005096)|guanyl-nucleotide exchange factor activity (GO:0005085)	p.Q615H(1)		NS(2)|breast(1)|central_nervous_system(7)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(10)|lung(15)|ovary(4)|prostate(3)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	72		all_epithelial(44;2.3e-07)|all_lung(145;0.00466)|Lung NSC(174;0.00685)|Colorectal(57;0.0107)|Renal(717;0.0113)|Breast(234;0.0492)|all_neural(114;0.108)|all_hematologic(284;0.14)		BRCA - Breast invasive adenocarcinoma(275;0.0221)|Colorectal(40;0.115)		AACTGACTCAGAACGGTGCGT	0.577																																						uc001ljt.2																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(4)|ovary(2)|lung(1)|breast(1)|kidney(1)	9						c.(1843-1845)CAG>CAT		dedicator of cytokinesis 1							19.0	20.0	20.0					10																	128830580		2116	4227	6343	SO:0001583	missense	1793				apoptosis|axon guidance|blood coagulation|integrin-mediated signaling pathway|phagocytosis, engulfment|small GTPase mediated signal transduction	cytosol|membrane	GTP binding|GTPase activator activity|GTPase binding|guanyl-nucleotide exchange factor activity|SH3 domain binding	g.chr10:128830580G>T	D50857	CCDS73222.1	10q26.13-q26.3	2009-10-28			ENSG00000150760	ENSG00000150760			2987	protein-coding gene	gene with protein product	"""DOwnstream of CrK"""	601403	"""dedicator of cyto-kinesis 1"""			8657152, 8661160	Standard	XM_006717681		Approved	DOCK180, ced5	uc001ljt.3	Q14185	OTTHUMG00000019249	ENST00000280333.6:c.1845G>T	10.37:g.128830580G>T	ENSP00000280333:p.Gln615His					DOCK1_uc010qun.1_Missense_Mutation_p.Q636H	p.Q615H	NM_001380	NP_001371	Q14185	DOCK1_HUMAN		BRCA - Breast invasive adenocarcinoma(275;0.0221)|Colorectal(40;0.115)	18	1909	+		all_epithelial(44;2.3e-07)|all_lung(145;0.00466)|Lung NSC(174;0.00685)|Colorectal(57;0.0107)|Renal(717;0.0113)|Breast(234;0.0492)|all_neural(114;0.108)|all_hematologic(284;0.14)	615			DHR-1.		A9Z1Z5	Missense_Mutation	SNP	ENST00000280333.6	37	c.1845G>T		.	.	.	.	.	.	.	.	.	.	G	14.86	2.661073	0.47572	.	.	ENSG00000150760	ENST00000280333	T	0.18657	2.2	3.51	3.51	0.40186	.	0.000000	0.85682	D	0.000000	T	0.48295	0.1492	M	0.87097	2.86	0.58432	D	0.999995	D;D	0.76494	0.999;0.998	D;D	0.79108	0.992;0.98	T	0.55774	-0.8088	10	0.87932	D	0	.	11.0856	0.48084	0.0929:0.0:0.9071:0.0	.	615;615	B2RUU3;Q14185	.;DOCK1_HUMAN	H	615	ENSP00000280333:Q615H	ENSP00000280333:Q615H	Q	+	3	2	DOCK1	128720570	1.000000	0.71417	1.000000	0.80357	0.615000	0.37417	2.084000	0.41625	2.241000	0.73720	0.655000	0.94253	CAG		PASS	0.577	DOCK1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000050979.2	NM_001380		4	5	4	5	---	---	---	---
GLRX3	10539	broad.mit.edu	37	10	131967730	131967730	+	Missense_Mutation	SNP	G	G	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr10:131967730G>T	ENST00000368644.1	+	7	769	c.747G>T	c.(745-747)atG>atT	p.M249I	GLRX3_ENST00000331244.5_Missense_Mutation_p.M249I	NM_001199868.1	NP_001186797.1	O76003	GLRX3_HUMAN	glutaredoxin 3	249	Glutaredoxin 2. {ECO:0000255|PROSITE- ProRule:PRU00686}.				cell redox homeostasis (GO:0045454)|negative regulation of cardiac muscle hypertrophy (GO:0010614)|regulation of the force of heart contraction (GO:0002026)	extracellular vesicular exosome (GO:0070062)|Z disc (GO:0030018)	electron carrier activity (GO:0009055)|iron-sulfur cluster binding (GO:0051536)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|protein disulfide oxidoreductase activity (GO:0015035)	p.M249I(2)		endometrium(1)|large_intestine(5)|lung(7)	13		all_cancers(35;9.59e-07)|all_epithelial(44;1.48e-06)|Lung NSC(174;0.00566)|all_lung(145;0.00949)|Colorectal(57;0.142)|all_neural(114;0.16)|Breast(234;0.173)|Glioma(114;0.222)		OV - Ovarian serous cystadenocarcinoma(35;0.00218)		CTTCTGTGATGCTCTTTATGA	0.353																																						uc001lkm.1																			2	Substitution - Missense(2)		lung(2)		0						c.(745-747)ATG>ATT		glutaredoxin 3							147.0	137.0	140.0					10																	131967730		2202	4300	6502	SO:0001583	missense	10539				cell redox homeostasis|negative regulation of cardiac muscle hypertrophy|regulation of the force of heart contraction	cell cortex	electron carrier activity|iron-sulfur cluster binding|metal ion binding|protein disulfide oxidoreductase activity	g.chr10:131967730G>T	AJ010841	CCDS7661.1	10q26	2009-05-29	2007-08-16	2007-08-16	ENSG00000108010	ENSG00000108010			15987	protein-coding gene	gene with protein product	"""glutaredoxin 4"""	612754	"""thioredoxin-like 2"""	TXNL2		10636891, 11124703	Standard	NM_006541		Approved	PICOT, bA500G10.4, GRX3, GLRX4, GRX4	uc001lkm.2	O76003	OTTHUMG00000019267	ENST00000368644.1:c.747G>T	10.37:g.131967730G>T	ENSP00000357633:p.Met249Ile					GLRX3_uc001lkn.1_Missense_Mutation_p.M249I|GLRX3_uc001lko.2_RNA	p.M249I	NM_006541	NP_006532	O76003	GLRX3_HUMAN		OV - Ovarian serous cystadenocarcinoma(35;0.00218)	7	769	+		all_cancers(35;9.59e-07)|all_epithelial(44;1.48e-06)|Lung NSC(174;0.00566)|all_lung(145;0.00949)|Colorectal(57;0.142)|all_neural(114;0.16)|Breast(234;0.173)|Glioma(114;0.222)	249			Glutaredoxin 2.		B3KMP7|B3KMQ5|D3DRG2|Q5JV01|Q96CE0|Q9P1B0|Q9P1B1	Missense_Mutation	SNP	ENST00000368644.1	37	c.747G>T	CCDS7661.1	.	.	.	.	.	.	.	.	.	.	G	22.9	4.355831	0.82243	.	.	ENSG00000108010	ENST00000331244;ENST00000368644	T;T	0.28454	1.61;1.61	5.28	5.28	0.74379	Glutaredoxin (2);Thioredoxin-like fold (2);	0.000000	0.85682	D	0.000000	T	0.43299	0.1241	L	0.58302	1.8	0.80722	D	1	P	0.48911	0.917	P	0.50659	0.647	T	0.18398	-1.0338	10	0.37606	T	0.19	-18.149	17.9368	0.89014	0.0:0.0:1.0:0.0	.	249	O76003	GLRX3_HUMAN	I	249	ENSP00000330836:M249I;ENSP00000357633:M249I	ENSP00000330836:M249I	M	+	3	0	GLRX3	131857720	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.657000	0.67996	2.479000	0.83701	0.655000	0.94253	ATG		PASS	0.353	GLRX3-002	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051021.1	NM_006541		41	47	41	47	---	---	---	---
DPYSL4	10570	broad.mit.edu	37	10	134016258	134016258	+	Missense_Mutation	SNP	G	G	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr10:134016258G>A	ENST00000338492.4	+	12	1554	c.1390G>A	c.(1390-1392)Ggg>Agg	p.G464R	DPYSL4_ENST00000368629.1_Intron|DPYSL4_ENST00000368627.1_Intron	NM_006426.2	NP_006417.2	O14531	DPYL4_HUMAN	dihydropyrimidinase-like 4	464					axon guidance (GO:0007411)|nervous system development (GO:0007399)|pyrimidine nucleobase catabolic process (GO:0006208)	cytosol (GO:0005829)	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides (GO:0016812)	p.G464R(1)		NS(1)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	32		all_cancers(35;4.33e-08)|all_epithelial(44;6.75e-06)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)|Colorectal(31;0.19)		OV - Ovarian serous cystadenocarcinoma(35;7.21e-05)|Epithelial(32;8.01e-05)|all cancers(32;9.29e-05)|BRCA - Breast invasive adenocarcinoma(275;0.206)		TGTCACCCCGGGGGCGGGCCG	0.622																																						uc009ybb.2																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(2)	2						c.(1390-1392)GGG>AGG		dihydropyrimidinase-like 4							63.0	69.0	67.0					10																	134016258		2203	4300	6503	SO:0001583	missense	10570				axon guidance|pyrimidine base catabolic process	cytosol	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides	g.chr10:134016258G>A	AB006713	CCDS7665.1	10q25.2-q26	2008-05-14			ENSG00000151640	ENSG00000151640			3016	protein-coding gene	gene with protein product		608407				8973361, 9652388	Standard	NM_006426		Approved	ULIP4, DRP-4	uc009ybb.3	O14531	OTTHUMG00000019283	ENST00000338492.4:c.1390G>A	10.37:g.134016258G>A	ENSP00000339850:p.Gly464Arg						p.G464R	NM_006426	NP_006417	O14531	DPYL4_HUMAN		OV - Ovarian serous cystadenocarcinoma(35;7.21e-05)|Epithelial(32;8.01e-05)|all cancers(32;9.29e-05)|BRCA - Breast invasive adenocarcinoma(275;0.206)	12	1544	+		all_cancers(35;4.33e-08)|all_epithelial(44;6.75e-06)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)|Colorectal(31;0.19)	464					B2RMQ1|D3DRG5|O00240|Q5T0Q7	Missense_Mutation	SNP	ENST00000338492.4	37	c.1390G>A	CCDS7665.1	.	.	.	.	.	.	.	.	.	.	G	17.28	3.350326	0.61183	.	.	ENSG00000151640	ENST00000338492	D	0.87887	-2.31	3.8	3.8	0.43715	Metal-dependent hydrolase, composite domain (1);	0.058460	0.64402	D	0.000002	D	0.88370	0.6418	M	0.85859	2.78	0.80722	D	1	D	0.54601	0.967	B	0.41440	0.357	D	0.91522	0.5235	10	0.72032	D	0.01	-16.6882	16.3159	0.82928	0.0:0.0:1.0:0.0	.	464	O14531	DPYL4_HUMAN	R	464	ENSP00000339850:G464R	ENSP00000339850:G464R	G	+	1	0	DPYSL4	133866248	1.000000	0.71417	0.042000	0.18584	0.011000	0.07611	9.049000	0.93837	2.131000	0.65755	0.456000	0.33151	GGG		PASS	0.622	DPYSL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051050.2			22	105	22	105	---	---	---	---
CFAP46	54777	broad.mit.edu	37	10	134660783	134660783	+	Missense_Mutation	SNP	C	C	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr10:134660783C>T	ENST00000368586.5	-	42	6095	c.5995G>A	c.(5995-5997)Gta>Ata	p.V1999I	TTC40_ENST00000263170.5_Missense_Mutation_p.V160I	NM_001200049.2	NP_001186978.2												p.V1999I(1)|p.V160I(1)		breast(1)|endometrium(5)|lung(19)|urinary_tract(3)	28						TCTTCCTCTACCTCCAGCTCC	0.652																																						uc010qux.1																			2	Substitution - Missense(2)		lung(2)								c.(5173-5175)GTA>ATA		Homo sapiens cDNA, FLJ17989.							87.0	95.0	92.0					10																	134660783		2203	4300	6503	SO:0001583	missense	0							g.chr10:134660783C>T																												ENST00000368586.5:c.5995G>A	10.37:g.134660783C>T	ENSP00000357575:p.Val1999Ile						p.V1725I	NM_017609	NP_060079					34	5173	-									Missense_Mutation	SNP	ENST00000368586.5	37	c.5173G>A	CCDS58101.1	.	.	.	.	.	.	.	.	.	.	C	5.369	0.253274	0.10185	.	.	ENSG00000171811	ENST00000368586;ENST00000263170	T;T	0.11712	2.98;2.75	3.57	-0.616	0.11583	.	8.385670	0.00817	U	0.001544	T	0.06050	0.0157	N	0.08118	0	0.09310	N	1	B	0.19331	0.035	B	0.17098	0.017	T	0.31943	-0.9925	10	0.41790	T	0.15	.	3.9377	0.09313	0.0:0.3116:0.2504:0.438	.	160	Q8IYW2	CJ092_HUMAN	I	1999;160	ENSP00000357575:V1999I;ENSP00000263170:V160I	ENSP00000263170:V160I	V	-	1	0	C10orf93	134510773	0.000000	0.05858	0.000000	0.03702	0.013000	0.08279	0.128000	0.15810	-0.005000	0.14395	0.491000	0.48974	GTA		PASS	0.652	TTC40-001	PUTATIVE	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000051095.3			74	92	74	92	---	---	---	---
TUBGCP2	10844	broad.mit.edu	37	10	135102436	135102436	+	Silent	SNP	C	C	G			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr10:135102436C>G	ENST00000252936.3	-	9	1488	c.1449G>C	c.(1447-1449)gcG>gcC	p.A483A	TUBGCP2_ENST00000543663.1_Silent_p.A511A|TUBGCP2_ENST00000368562.1_Silent_p.A76A|TUBGCP2_ENST00000368563.2_Silent_p.A483A|TUBGCP2_ENST00000417178.2_Silent_p.A353A			Q9BSJ2	GCP2_HUMAN	tubulin, gamma complex associated protein 2	483					G2/M transition of mitotic cell cycle (GO:0000086)|microtubule nucleation (GO:0007020)|mitotic cell cycle (GO:0000278)|protein complex assembly (GO:0006461)	centrosome (GO:0005813)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)|spindle pole (GO:0000922)		p.A483A(1)		breast(2)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(16)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	35		all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;8.87e-06)|all cancers(32;8.98e-06)|Epithelial(32;1.15e-05)		GCTCCACATACGCCCGCTCTT	0.517																																						uc001lmg.1																			1	Substitution - coding silent(1)		lung(1)		0						c.(1447-1449)GCG>GCC		tubulin, gamma complex associated protein 2							193.0	148.0	163.0					10																	135102436		2203	4300	6503	SO:0001819	synonymous_variant	10844				G2/M transition of mitotic cell cycle|microtubule nucleation|protein complex assembly	centrosome|cytoplasmic microtubule|cytosol|spindle pole	protein binding	g.chr10:135102436C>G	AF042379	CCDS7676.1, CCDS58104.1, CCDS58105.1	10q26.3	2008-07-28			ENSG00000130640	ENSG00000130640			18599	protein-coding gene	gene with protein product						9566967	Standard	NM_001256617		Approved	GCP2, Spc97p, SPBC97	uc010qvc.2	Q9BSJ2	OTTHUMG00000019319	ENST00000252936.3:c.1449G>C	10.37:g.135102436C>G						TUBGCP2_uc001lmf.1_Silent_p.A76A|TUBGCP2_uc010qvc.1_Silent_p.A511A|TUBGCP2_uc009ybk.1_Silent_p.A483A|TUBGCP2_uc010qvd.1_Silent_p.A353A|TUBGCP2_uc001lmh.1_RNA	p.A483A	NM_006659	NP_006650	Q9BSJ2	GCP2_HUMAN		OV - Ovarian serous cystadenocarcinoma(35;8.87e-06)|all cancers(32;8.98e-06)|Epithelial(32;1.15e-05)	10	1806	-		all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)	483					B4DM18|B7ZKL8|F5H4E0|F5H4L0|O43632|Q5VWX7	Silent	SNP	ENST00000252936.3	37	c.1449G>C	CCDS7676.1																																																																																				PASS	0.517	TUBGCP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051148.1			18	83	18	83	---	---	---	---
ART5	116969	broad.mit.edu	37	11	3661139	3661139	+	Missense_Mutation	SNP	C	C	A	rs143088148		TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr11:3661139C>A	ENST00000397068.3	-	2	912	c.520G>T	c.(520-522)Gac>Tac	p.D174Y	TRPC2_ENST00000526541.1_RNA|ART5_ENST00000359918.4_Missense_Mutation_p.D174Y|ART5_ENST00000397067.3_Missense_Mutation_p.D174Y	NM_053017.3	NP_443750.2	Q96L15	NAR5_HUMAN	ADP-ribosyltransferase 5	174					protein ADP-ribosylation (GO:0006471)	extracellular region (GO:0005576)|membrane (GO:0016020)	NAD(P)+-protein-arginine ADP-ribosyltransferase activity (GO:0003956)|NAD+ ADP-ribosyltransferase activity (GO:0003950)|NAD+ nucleosidase activity (GO:0003953)	p.D174Y(1)		breast(1)|central_nervous_system(1)|large_intestine(2)|lung(6)|ovary(1)	11		Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227)		BRCA - Breast invasive adenocarcinoma(625;0.0336)|LUSC - Lung squamous cell carcinoma(625;0.19)		CGGACAGAGTCTCCCAGCCTC	0.607																																						uc001lyb.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(520-522)GAC>TAC		ADP-ribosyltransferase 5 precursor							56.0	58.0	57.0					11																	3661139		2201	4298	6499	SO:0001583	missense	116969					extracellular region	NAD(P)+-protein-arginine ADP-ribosyltransferase activity	g.chr11:3661139C>A	Y16835	CCDS7743.1, CCDS73242.1	11p15.4	2008-02-05			ENSG00000167311	ENSG00000167311			24049	protein-coding gene	gene with protein product		610625				11587854, 10448534	Standard	NM_001079536		Approved		uc001lyb.1	Q96L15	OTTHUMG00000011842	ENST00000397068.3:c.520G>T	11.37:g.3661139C>A	ENSP00000380258:p.Asp174Tyr					ART5_uc001lyc.1_Missense_Mutation_p.D174Y|ART5_uc001lyd.2_Missense_Mutation_p.D174Y|ART5_uc009yea.2_Missense_Mutation_p.D174Y	p.D174Y	NM_053017	NP_443750	Q96L15	NAR5_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.0336)|LUSC - Lung squamous cell carcinoma(625;0.19)	2	913	-		Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227)	174					C9IYG7|Q6UX84|Q86W02	Missense_Mutation	SNP	ENST00000397068.3	37	c.520G>T	CCDS7743.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	14.72|14.72	2.618977|2.618977	0.46736|0.46736	.|.	.|.	ENSG00000167311|ENSG00000167311	ENST00000397068;ENST00000397067;ENST00000359918|ENST00000453353	T;T;T|.	0.08896|.	3.04;3.04;3.04|.	6.04|6.04	6.04|6.04	0.98038|0.98038	.|.	0.255877|.	0.43919|.	D|.	0.000506|.	T|T	0.69824|0.69824	0.3154|0.3154	M|M	0.81802|0.81802	2.56|2.56	0.29447|0.29447	N|N	0.858738|0.858738	D;D|.	0.89917|.	1.0;0.993|.	D;D|.	0.80764|.	0.994;0.969|.	T|T	0.68663|0.68663	-0.5349|-0.5349	10|5	0.59425|.	D|.	0.04|.	-31.8761|-31.8761	16.0793|16.0793	0.80989|0.80989	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	174;174|.	Q96L15-2;Q96L15|.	.;NAR5_HUMAN|.	Y|I	174|130	ENSP00000380258:D174Y;ENSP00000380257:D174Y;ENSP00000352992:D174Y|.	ENSP00000352992:D174Y|.	D|R	-|-	1|2	0|0	ART5|ART5	3617715|3617715	0.791000|0.791000	0.28800|0.28800	0.994000|0.994000	0.49952|0.49952	0.404000|0.404000	0.30871|0.30871	4.729000|4.729000	0.62008|0.62008	2.873000|2.873000	0.98535|0.98535	0.561000|0.561000	0.74099|0.74099	GAC|AGA		PASS	0.607	ART5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032760.2	NM_053017		46	40	46	40	---	---	---	---
OR52K1	390036	broad.mit.edu	37	11	4510584	4510584	+	Missense_Mutation	SNP	G	G	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr11:4510584G>T	ENST00000307632.3	+	1	476	c.454G>T	c.(454-456)Gcc>Tcc	p.A152S		NM_001005171.2	NP_001005171.2	Q8NGK4	O52K1_HUMAN	olfactory receptor, family 52, subfamily K, member 1	152						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.A152S(1)		breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(18)|skin(2)|stomach(1)	32		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;1.76e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0836)|LUSC - Lung squamous cell carcinoma(625;0.192)		GGCTGCTGTGGCCCGGGCTGT	0.582																																						uc001lza.1																			1	Substitution - Missense(1)		lung(1)		0						c.(454-456)GCC>TCC		olfactory receptor, family 52, subfamily K,							95.0	82.0	86.0					11																	4510584		2201	4297	6498	SO:0001583	missense	390036				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:4510584G>T	AB065790	CCDS31352.1	11p15.4	2012-08-09			ENSG00000196778	ENSG00000196778		"""GPCR / Class A : Olfactory receptors"""	15222	protein-coding gene	gene with protein product							Standard	NM_001005171		Approved		uc001lza.2	Q8NGK4	OTTHUMG00000165705	ENST00000307632.3:c.454G>T	11.37:g.4510584G>T	ENSP00000302422:p.Ala152Ser						p.A152S	NM_001005171	NP_001005171	Q8NGK4	O52K1_HUMAN		Epithelial(150;1.76e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0836)|LUSC - Lung squamous cell carcinoma(625;0.192)	1	454	+		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)	152			Helical; Name=4; (Potential).		B9EH54|Q6IFK5	Missense_Mutation	SNP	ENST00000307632.3	37	c.454G>T	CCDS31352.1	.	.	.	.	.	.	.	.	.	.	G	6.179	0.401214	0.11696	.	.	ENSG00000196778	ENST00000307632	T	0.38240	1.15	4.07	-7.71	0.01254	GPCR, rhodopsin-like superfamily (1);	1.507430	0.04220	N	0.333374	T	0.26919	0.0659	L	0.41573	1.285	0.09310	N	1	B	0.16802	0.019	B	0.30105	0.111	T	0.40232	-0.9574	10	0.59425	D	0.04	.	3.9512	0.09369	0.5195:0.0951:0.2837:0.1016	.	152	Q8NGK4	O52K1_HUMAN	S	152	ENSP00000302422:A152S	ENSP00000302422:A152S	A	+	1	0	OR52K1	4467160	0.000000	0.05858	0.000000	0.03702	0.151000	0.21798	-6.092000	0.00081	-1.558000	0.01690	-0.290000	0.09829	GCC		PASS	0.582	OR52K1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385846.1	NM_001005171		22	25	22	25	---	---	---	---
OR52M1	119772	broad.mit.edu	37	11	4567167	4567167	+	Nonsense_Mutation	SNP	T	T	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr11:4567167T>A	ENST00000360213.1	+	1	747	c.747T>A	c.(745-747)tgT>tgA	p.C249*		NM_001004137.1	NP_001004137.1	Q8NGK5	O52M1_HUMAN	olfactory receptor, family 52, subfamily M, member 1	249						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.C249*(1)		endometrium(2)|large_intestine(2)|lung(9)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	18		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;8.45e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0285)|LUSC - Lung squamous cell carcinoma(625;0.19)		CTCACCTCTGTGCCATCCTGA	0.512																																						uc010qyf.1																			1	Substitution - Nonsense(1)		lung(1)		0						c.(745-747)TGT>TGA		olfactory receptor, family 52, subfamily M,							305.0	263.0	277.0					11																	4567167		2201	4298	6499	SO:0001587	stop_gained	119772				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:4567167T>A	AB065789	CCDS31353.1	11p15.4	2012-08-09	2002-11-13	2002-11-15	ENSG00000197790	ENSG00000197790		"""GPCR / Class A : Olfactory receptors"""	15225	protein-coding gene	gene with protein product			"""olfactory receptor, family 52, subfamily M, member 1 pseudogene"""	OR52M1P			Standard	NM_001004137		Approved		uc010qyf.2	Q8NGK5	OTTHUMG00000165706	ENST00000360213.1:c.747T>A	11.37:g.4567167T>A	ENSP00000353343:p.Cys249*						p.C249*	NM_001004137	NP_001004137	Q8NGK5	O52M1_HUMAN		Epithelial(150;8.45e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0285)|LUSC - Lung squamous cell carcinoma(625;0.19)	1	747	+		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)	249			Helical; Name=6; (Potential).			Nonsense_Mutation	SNP	ENST00000360213.1	37	c.747T>A	CCDS31353.1	.	.	.	.	.	.	.	.	.	.	T	15.77	2.931293	0.52866	.	.	ENSG00000197790	ENST00000360213	.	.	.	4.49	2.06	0.26882	.	0.000000	0.51477	D	0.000086	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	8.3291	0.32175	0.0:0.1707:0.0:0.8293	.	.	.	.	X	249	.	ENSP00000353343:C249X	C	+	3	2	OR52M1	4523743	0.028000	0.19301	0.988000	0.46212	0.472000	0.32918	-0.324000	0.07986	0.306000	0.22856	-0.256000	0.11100	TGT		PASS	0.512	OR52M1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385847.1	NM_001004137		78	75	78	75	---	---	---	---
OR51E1	143503	broad.mit.edu	37	11	4674143	4674143	+	Missense_Mutation	SNP	C	C	G			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr11:4674143C>G	ENST00000396952.5	+	2	1037	c.387C>G	c.(385-387)atC>atG	p.I129M	OR51E1_ENST00000530215.1_Intron	NM_152430.3	NP_689643.2	Q8TCB6	O51E1_HUMAN	olfactory receptor, family 51, subfamily E, member 1	128						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.I128M(1)		NS(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|pancreas(1)|skin(1)|stomach(2)	30		Medulloblastoma(188;0.0025)|Breast(177;0.0101)|all_neural(188;0.0227)		Epithelial(150;7.37e-14)|GBM - Glioblastoma multiforme(2;2.85e-05)|BRCA - Breast invasive adenocarcinoma(625;0.00222)|LUSC - Lung squamous cell carcinoma(625;0.19)		ATGTGGCCATCTGTCACCCAC	0.552																																						uc001lzi.3																			1	Substitution - Missense(1)		lung(1)	large_intestine(3)|pancreas(1)	4						c.(385-387)ATC>ATG		olfactory receptor, family 51, subfamily E,							126.0	96.0	106.0					11																	4674143		2201	4298	6499	SO:0001583	missense	143503				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:4674143C>G	AY775731	CCDS31358.2	11p15.4	2012-08-22	2004-11-03	2004-11-06	ENSG00000180785	ENSG00000180785		"""GPCR / Class A : Olfactory receptors"""	15194	protein-coding gene	gene with protein product		611267	"""olfactory receptor, family 51, subfamily E, member 1 pseudogene"""	OR51E1P, OR52A3P, GPR164			Standard	NM_152430		Approved	GPR136	uc001lzi.4	Q8TCB6	OTTHUMG00000157024	ENST00000396952.5:c.387C>G	11.37:g.4674143C>G	ENSP00000380155:p.Ile129Met						p.I129M	NM_152430	NP_689643	Q8TCB6	O51E1_HUMAN		Epithelial(150;7.37e-14)|GBM - Glioblastoma multiforme(2;2.85e-05)|BRCA - Breast invasive adenocarcinoma(625;0.00222)|LUSC - Lung squamous cell carcinoma(625;0.19)	2	531	+		Medulloblastoma(188;0.0025)|Breast(177;0.0101)|all_neural(188;0.0227)	128			Cytoplasmic (Potential).		A8KAM6|Q5S4P5|Q66X57|Q6IF93	Missense_Mutation	SNP	ENST00000396952.5	37	c.387C>G	CCDS31358.2	.	.	.	.	.	.	.	.	.	.	C	15.74	2.923441	0.52653	.	.	ENSG00000180785	ENST00000396952	D	0.81908	-1.55	4.98	0.522	0.17053	GPCR, rhodopsin-like superfamily (1);	0.000000	0.56097	D	0.000021	D	0.93138	0.7815	H	0.98027	4.13	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.92266	0.5821	10	0.87932	D	0	.	9.933	0.41534	0.0:0.6402:0.0:0.3598	.	128	Q8TCB6	O51E1_HUMAN	M	129	ENSP00000380155:I129M	ENSP00000380155:I129M	I	+	3	3	OR51E1	4630719	0.919000	0.31177	0.996000	0.52242	0.988000	0.76386	-0.004000	0.12878	0.246000	0.21394	0.655000	0.94253	ATC		PASS	0.552	OR51E1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347136.2	NM_152430		61	34	61	34	---	---	---	---
OR52A5	390054	broad.mit.edu	37	11	5152960	5152960	+	Missense_Mutation	SNP	G	G	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr11:5152960G>T	ENST00000307388.1	-	1	912	c.913C>A	c.(913-915)Cat>Aat	p.H305N		NM_001005160.2	NP_001005160.1	Q9H2C5	O52A5_HUMAN	olfactory receptor, family 52, subfamily A, member 5	305					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.H305N(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(18)|skin(3)	35		Medulloblastoma(188;0.0049)|all_neural(188;0.0442)|Breast(177;0.0675)		Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.2)		TTCACAATATGGTCACGAATT	0.343																																						uc010qyx.1																			1	Substitution - Missense(1)		lung(1)	skin(2)|lung(1)|central_nervous_system(1)	4						c.(913-915)CAT>AAT		olfactory receptor, family 52, subfamily A,							109.0	104.0	106.0					11																	5152960		2201	4298	6499	SO:0001583	missense	390054				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:5152960G>T	BK004433	CCDS31373.1	11p15.4	2012-08-09			ENSG00000171944	ENSG00000171944		"""GPCR / Class A : Olfactory receptors"""	19580	protein-coding gene	gene with protein product							Standard	NM_001005160		Approved		uc010qyx.2	Q9H2C5	OTTHUMG00000066616	ENST00000307388.1:c.913C>A	11.37:g.5152960G>T	ENSP00000303469:p.His305Asn						p.H305N	NM_001005160	NP_001005160	Q9H2C5	O52A5_HUMAN		Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.2)	1	913	-		Medulloblastoma(188;0.0049)|all_neural(188;0.0442)|Breast(177;0.0675)	305			Cytoplasmic (Potential).			Missense_Mutation	SNP	ENST00000307388.1	37	c.913C>A	CCDS31373.1	.	.	.	.	.	.	.	.	.	.	G	8.121	0.781013	0.16120	.	.	ENSG00000171944	ENST00000307388	T	0.36878	1.23	4.85	1.82	0.25136	.	0.848446	0.10073	N	0.719418	T	0.18718	0.0449	N	0.12569	0.235	0.09310	N	1	B	0.02656	0.0	B	0.06405	0.002	T	0.19943	-1.0290	10	0.51188	T	0.08	.	3.6188	0.08087	0.082:0.1319:0.3973:0.3888	.	305	Q9H2C5	O52A5_HUMAN	N	305	ENSP00000303469:H305N	ENSP00000303469:H305N	H	-	1	0	OR52A5	5109536	0.001000	0.12720	0.003000	0.11579	0.016000	0.09150	0.247000	0.18179	0.601000	0.29879	-0.165000	0.13383	CAT		PASS	0.343	OR52A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142823.1	NM_001005160		42	39	42	39	---	---	---	---
HBE1	3046	broad.mit.edu	37	11	5290708	5290708	+	Silent	SNP	C	C	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr11:5290708C>A	ENST00000380237.1	-	4	635	c.291G>T	c.(289-291)ctG>ctT	p.L97L	HBE1_ENST00000292896.2_Silent_p.L97L|HBG2_ENST00000380252.1_Intron|HBG2_ENST00000380259.2_Intron			P02100	HBE_HUMAN	hemoglobin, epsilon 1	97					blood coagulation (GO:0007596)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|protein heterooligomerization (GO:0051291)	blood microparticle (GO:0072562)|cytosol (GO:0005829)|hemoglobin complex (GO:0005833)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxygen binding (GO:0019825)|oxygen transporter activity (GO:0005344)	p.L97L(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(12)|skin(1)	20		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;1.34e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GATCCACATGCAGCTTGTCAC	0.423																																						uc001mal.1																			1	Substitution - coding silent(1)		lung(1)		0						c.(289-291)CTG>CTT		epsilon globin							137.0	126.0	130.0					11																	5290708		2201	4298	6499	SO:0001819	synonymous_variant	3046				blood coagulation	hemoglobin complex	heme binding|oxygen binding|oxygen transporter activity	g.chr11:5290708C>A	BC015537	CCDS7756.1	11p15.5	2012-10-02			ENSG00000213931	ENSG00000213931			4830	protein-coding gene	gene with protein product		142100				2649166	Standard	NM_005330		Approved	HBE	uc001mal.1	P02100	OTTHUMG00000066675	ENST00000380237.1:c.291G>T	11.37:g.5290708C>A						HBG2_uc001mak.1_Intron|HBE1_uc001mam.1_Silent_p.L97L	p.L97L	NM_005330	NP_005321	P02100	HBE_HUMAN		Epithelial(150;1.34e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	2	544	-		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)	97					Q6FH44	Silent	SNP	ENST00000380237.1	37	c.291G>T	CCDS7756.1																																																																																				PASS	0.423	HBE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142973.2	NM_005330		55	65	55	65	---	---	---	---
OR52E6	390078	broad.mit.edu	37	11	5862226	5862226	+	Missense_Mutation	SNP	C	C	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr11:5862226C>A	ENST00000329322.5	-	1	901	c.902G>T	c.(901-903)aGg>aTg	p.R301M	OR52E6_ENST00000379946.2_Missense_Mutation_p.R305M|TRIM5_ENST00000380027.1_Intron	NM_001005167.1	NP_001005167.1	Q96RD3	O52E6_HUMAN	olfactory receptor, family 52, subfamily E, member 6	301						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.R305M(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;2.55e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CACTGTCTCCCTAATATGTTT	0.438																																						uc010qzq.1																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1						c.(901-903)AGG>ATG		olfactory receptor, family 52, subfamily E,							102.0	99.0	100.0					11																	5862226		1969	4202	6171	SO:0001583	missense	390078				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:5862226C>A	AB065815	CCDS53597.1	11p15.4	2012-08-09				ENSG00000205409		"""GPCR / Class A : Olfactory receptors"""	15215	protein-coding gene	gene with protein product							Standard	NM_001005167		Approved		uc010qzq.2	Q96RD3		ENST00000329322.5:c.902G>T	11.37:g.5862226C>A	ENSP00000328878:p.Arg301Met					TRIM5_uc001mbq.1_Intron	p.R301M	NM_001005167	NP_001005167	Q96RD3	O52E6_HUMAN		Epithelial(150;2.55e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	1	902	-		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)	301			Cytoplasmic (Potential).		Q6IFF8	Missense_Mutation	SNP	ENST00000329322.5	37	c.902G>T	CCDS53597.1	.	.	.	.	.	.	.	.	.	.	C	13.23	2.175408	0.38413	.	.	ENSG00000205409	ENST00000329322;ENST00000379946	T;T	0.58210	0.35;0.35	3.45	1.56	0.23342	.	0.130112	0.33591	N	0.004757	T	0.67646	0.2915	M	0.84326	2.69	0.09310	N	1	D	0.71674	0.998	D	0.67231	0.95	T	0.58423	-0.7639	10	0.87932	D	0	.	7.0217	0.24918	0.0:0.7225:0.1758:0.1017	.	301	Q96RD3	O52E6_HUMAN	M	301;305	ENSP00000328878:R301M;ENSP00000369279:R305M	ENSP00000328878:R301M	R	-	2	0	OR52E6	5818802	0.000000	0.05858	0.002000	0.10522	0.015000	0.08874	0.123000	0.15708	0.185000	0.20105	-0.233000	0.12211	AGG		PASS	0.438	OR52E6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401144.1	NM_001005167		58	54	58	54	---	---	---	---
OR52L1	338751	broad.mit.edu	37	11	6007816	6007816	+	Nonsense_Mutation	SNP	G	G	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr11:6007816G>T	ENST00000332249.4	-	1	399	c.345C>A	c.(343-345)tgC>tgA	p.C115*		NM_001005173.2	NP_001005173.2	Q8NGH7	O52L1_HUMAN	olfactory receptor, family 52, subfamily L, member 1	115						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.C100*(1)|p.C115*(1)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(11)|pancreas(1)|skin(3)|soft_tissue(1)	30		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;1.98e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TCTGGATCAGGCAGACGATGT	0.552																																					Melanoma(121;653 1666 10547 22796 51255)	uc001mcd.2																			2	Substitution - Nonsense(2)		lung(2)	central_nervous_system(1)|pancreas(1)	2						c.(343-345)TGC>TGA		olfactory receptor, family 52, subfamily L,							61.0	63.0	62.0					11																	6007816		2134	4258	6392	SO:0001587	stop_gained	338751				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:6007816G>T	AB065819	CCDS44529.1	11p15.4	2012-08-09			ENSG00000183313	ENSG00000183313		"""GPCR / Class A : Olfactory receptors"""	14785	protein-coding gene	gene with protein product							Standard	NM_001005173		Approved		uc001mcd.2	Q8NGH7	OTTHUMG00000165374	ENST00000332249.4:c.345C>A	11.37:g.6007816G>T	ENSP00000330338:p.Cys115*						p.C115*	NM_001005173	NP_001005173	Q8NGH7	O52L1_HUMAN		Epithelial(150;1.98e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)	1	400	-		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)	115			Extracellular (Potential).		B2RPA6|Q6IFK9	Nonsense_Mutation	SNP	ENST00000332249.4	37	c.345C>A	CCDS44529.1	.	.	.	.	.	.	.	.	.	.	G	15.67	2.901240	0.52227	.	.	ENSG00000183313	ENST00000332249	.	.	.	3.5	0.325	0.15903	.	0.000000	0.44483	D	0.000447	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	7.8518	0.29459	0.3966:0.0:0.6034:0.0	.	.	.	.	X	115	.	ENSP00000330338:C115X	C	-	3	2	OR52L1	5964392	0.055000	0.20627	0.849000	0.33467	0.509000	0.34042	0.338000	0.19858	0.120000	0.18254	0.313000	0.20887	TGC		PASS	0.552	OR52L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383754.1	NM_001005173		23	17	23	17	---	---	---	---
ARFIP2	23647	broad.mit.edu	37	11	6500011	6500011	+	Missense_Mutation	SNP	C	C	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr11:6500011C>A	ENST00000254584.2	-	5	577	c.494G>T	c.(493-495)gGt>gTt	p.G165V	TIMM10B_ENST00000472836.1_5'Flank|ARFIP2_ENST00000396777.3_Missense_Mutation_p.G165V|ARFIP2_ENST00000423813.2_Missense_Mutation_p.G127V|ARFIP2_ENST00000445086.2_Missense_Mutation_p.G80V|ARFIP2_ENST00000525235.1_Missense_Mutation_p.G165V|TIMM10B_ENST00000530751.1_5'Flank|TIMM10B_ENST00000254616.6_5'Flank	NM_012402.3	NP_036534.1	P53365	ARFP2_HUMAN	ADP-ribosylation factor interacting protein 2	165	AH. {ECO:0000255|PROSITE- ProRule:PRU00294}.				actin cytoskeleton organization (GO:0030036)|cellular component movement (GO:0006928)|lamellipodium assembly (GO:0030032)|ruffle organization (GO:0031529)|small GTPase mediated signal transduction (GO:0007264)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	GTP binding (GO:0005525)|GTP-dependent protein binding (GO:0030742)|Rac GTPase binding (GO:0048365)	p.G165V(1)		endometrium(2)|large_intestine(4)|liver(1)|lung(4)|pancreas(1)|prostate(1)|skin(2)	15		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;3.41e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)		AAAGGCATCACCCAGTGCATG	0.622																																					Melanoma(119;796 1674 9049 20480 24794)	uc001mdk.2																			1	Substitution - Missense(1)		lung(1)		0						c.(493-495)GGT>GTT		ADP-ribosylation factor interacting protein 2							49.0	40.0	43.0					11																	6500011		2201	4296	6497	SO:0001583	missense	23647				actin cytoskeleton organization|cellular component movement|lamellipodium assembly|ruffle organization|small GTPase mediated signal transduction	cell cortex|plasma membrane|ruffle	GTP binding|GTP-dependent protein binding|Rac GTPase binding	g.chr11:6500011C>A	BC000392	CCDS7765.1, CCDS55739.1, CCDS55740.1, CCDS73250.1	11p15	2008-08-01	2008-08-01		ENSG00000132254	ENSG00000132254			17160	protein-coding gene	gene with protein product	"""arfaptin 2"""	601638				8670882, 9038142	Standard	NM_012402		Approved	POR1	uc010ran.2	P53365	OTTHUMG00000133406	ENST00000254584.2:c.494G>T	11.37:g.6500011C>A	ENSP00000254584:p.Gly165Val					ARFIP2_uc001mdl.2_Missense_Mutation_p.G165V|ARFIP2_uc010ral.1_Missense_Mutation_p.G127V|ARFIP2_uc010ram.1_Missense_Mutation_p.G71V|ARFIP2_uc010ran.1_Missense_Mutation_p.G198V|ARFIP2_uc001mdm.2_Intron|FXC1_uc001mdn.3_5'Flank|FXC1_uc001mdo.3_5'Flank	p.G165V	NM_012402	NP_036534	P53365	ARFP2_HUMAN		Epithelial(150;3.41e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)	5	631	-		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)	165			AH.		B4DX86|B4E306|D3DQT5	Missense_Mutation	SNP	ENST00000254584.2	37	c.494G>T	CCDS7765.1	.	.	.	.	.	.	.	.	.	.	C	17.99	3.523785	0.64747	.	.	ENSG00000132254	ENST00000254584;ENST00000396777;ENST00000445086;ENST00000423813;ENST00000525235	D;D;D;D;D	0.86627	-2.15;-2.15;-2.15;-2.15;-2.15	5.67	5.67	0.87782	Arfaptin-like (3);	0.000000	0.85682	D	0.000000	D	0.93507	0.7928	M	0.79693	2.465	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.998;1.0	D	0.93979	0.7256	10	0.87932	D	0	.	15.7317	0.77810	0.0:0.8632:0.1368:0.0	.	80;165	B4E306;P53365	.;ARFP2_HUMAN	V	165;165;80;127;165	ENSP00000254584:G165V;ENSP00000379998:G165V;ENSP00000391427:G80V;ENSP00000398375:G127V;ENSP00000434124:G165V	ENSP00000254584:G165V	G	-	2	0	ARFIP2	6456587	1.000000	0.71417	1.000000	0.80357	0.950000	0.60333	5.994000	0.70623	2.677000	0.91161	0.561000	0.74099	GGT		PASS	0.622	ARFIP2-008	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387044.1	NM_012402		22	18	22	18	---	---	---	---
OR10A4	283297	broad.mit.edu	37	11	6898600	6898600	+	Missense_Mutation	SNP	C	C	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr11:6898600C>A	ENST00000379829.2	+	1	745	c.722C>A	c.(721-723)aCc>aAc	p.T241N		NM_207186.2	NP_997069.2	Q9H209	O10A4_HUMAN	olfactory receptor, family 10, subfamily A, member 4	241					axon guidance (GO:0007411)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.T241N(1)		kidney(1)|large_intestine(2)|liver(2)|lung(20)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	31		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.78e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		GCATTCTCCACCTGTTCCGCC	0.517																																						uc010rat.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(721-723)ACC>AAC		olfactory receptor, family 10, subfamily A,							208.0	154.0	172.0					11																	6898600		2201	4296	6497	SO:0001583	missense	283297				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:6898600C>A	AF209506	CCDS7774.1	11p15.4	2012-08-09	2002-11-13	2004-03-10	ENSG00000170782	ENSG00000170782		"""GPCR / Class A : Olfactory receptors"""	15130	protein-coding gene	gene with protein product			"""olfactory receptor, family 10, subfamily A, member 4 pseudogene"""	OR10A4P			Standard	NM_207186		Approved		uc010rat.2	Q9H209	OTTHUMG00000165740	ENST00000379829.2:c.722C>A	11.37:g.6898600C>A	ENSP00000369157:p.Thr241Asn						p.T241N	NM_207186	NP_997069	Q9H209	O10A4_HUMAN		Epithelial(150;4.78e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)	1	722	+		Medulloblastoma(188;0.0523)|all_neural(188;0.236)	241			Helical; Name=6; (Potential).		B2RNP5|B9EH36|Q96R20	Missense_Mutation	SNP	ENST00000379829.2	37	c.722C>A	CCDS7774.1	.	.	.	.	.	.	.	.	.	.	c	20.9	4.060405	0.76074	.	.	ENSG00000170782	ENST00000379829	T	0.40476	1.03	4.05	4.05	0.47172	GPCR, rhodopsin-like superfamily (1);	0.000000	0.46442	D	0.000300	T	0.72748	0.3499	H	0.94582	3.555	0.46396	D	0.999023	D	0.89917	1.0	D	0.97110	1.0	T	0.81208	-0.1037	10	0.87932	D	0	.	14.536	0.67960	0.0:1.0:0.0:0.0	.	241	Q9H209	O10A4_HUMAN	N	241	ENSP00000369157:T241N	ENSP00000369157:T241N	T	+	2	0	OR10A4	6855176	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	4.738000	0.62073	2.535000	0.85469	0.651000	0.88453	ACC		PASS	0.517	OR10A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385985.1	NM_207186		67	43	67	43	---	---	---	---
OR2D2	120776	broad.mit.edu	37	11	6913008	6913008	+	Missense_Mutation	SNP	C	C	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr11:6913008C>A	ENST00000299459.2	-	1	822	c.724G>T	c.(724-726)Ggc>Tgc	p.G242C		NM_003700.1	NP_003691.1	Q9H210	OR2D2_HUMAN	olfactory receptor, family 2, subfamily D, member 2	242					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.G242C(1)		breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(3)|lung(9)|ovary(1)|skin(2)	18		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.68e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		AGGTGGGAGCCACAGGTAGAA	0.428																																						uc010rau.1																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)|skin(1)	2						c.(724-726)GGC>TGC		olfactory receptor, family 2, subfamily D,							84.0	78.0	80.0					11																	6913008		2201	4296	6497	SO:0001583	missense	120776				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:6913008C>A	AB065824	CCDS31416.1	11p15.4	2012-08-09			ENSG00000166368	ENSG00000166368		"""GPCR / Class A : Olfactory receptors"""	8244	protein-coding gene	gene with protein product		608494		OR2D1		9787077	Standard	NM_003700		Approved	OR11-610, hg27	uc010rau.2	Q9H210	OTTHUMG00000165741	ENST00000299459.2:c.724G>T	11.37:g.6913008C>A	ENSP00000299459:p.Gly242Cys						p.G242C	NM_003700	NP_003691	Q9H210	OR2D2_HUMAN		Epithelial(150;4.68e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)	1	724	-		Medulloblastoma(188;0.0523)|all_neural(188;0.236)	242			Helical; Name=6; (Potential).		B9EIL5|O95224|Q6IF28|Q8NGH4|Q96R52	Missense_Mutation	SNP	ENST00000299459.2	37	c.724G>T	CCDS31416.1	.	.	.	.	.	.	.	.	.	.	c	18.31	3.596739	0.66332	.	.	ENSG00000166368	ENST00000299459	T	0.37915	1.17	5.08	4.17	0.49024	GPCR, rhodopsin-like superfamily (1);	0.128241	0.35772	N	0.002998	T	0.62841	0.2461	M	0.86864	2.845	0.33806	D	0.627206	D	0.89917	1.0	D	0.91635	0.999	T	0.77419	-0.2595	10	0.87932	D	0	-18.9857	11.5843	0.50910	0.0:0.9136:0.0:0.0864	.	242	Q9H210	OR2D2_HUMAN	C	242	ENSP00000299459:G242C	ENSP00000299459:G242C	G	-	1	0	OR2D2	6869584	0.000000	0.05858	1.000000	0.80357	0.990000	0.78478	-0.402000	0.07223	1.542000	0.49330	0.639000	0.83563	GGC		PASS	0.428	OR2D2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385986.1	NM_003700		29	38	29	38	---	---	---	---
OR10A3	26496	broad.mit.edu	37	11	7960899	7960899	+	Missense_Mutation	SNP	C	C	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr11:7960899C>A	ENST00000360759.3	-	1	242	c.169G>T	c.(169-171)Gtt>Ttt	p.V57F		NM_001003745.1	NP_001003745.1	P58181	O10A3_HUMAN	olfactory receptor, family 10, subfamily A, member 3	57					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.V57I(1)|p.V57F(1)		endometrium(1)|large_intestine(5)|lung(12)|pancreas(1)|skin(2)	21				Epithelial(150;1.38e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)		TACATGGGAACGTGGAGGCTC	0.483																																						uc010rbi.1																			2	Substitution - Missense(2)		large_intestine(1)|lung(1)	pancreas(1)	1						c.(169-171)GTT>TTT		olfactory receptor, family 10, subfamily A,							128.0	117.0	120.0					11																	7960899		2201	4296	6497	SO:0001583	missense	26496				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:7960899C>A	BK004404	CCDS31421.1	11p15.4	2012-08-09			ENSG00000170683	ENSG00000170683		"""GPCR / Class A : Olfactory receptors"""	8162	protein-coding gene	gene with protein product						1370859	Standard	NM_001003745		Approved	HTPCRX12, HSHTPCRX12	uc010rbi.2	P58181	OTTHUMG00000165672	ENST00000360759.3:c.169G>T	11.37:g.7960899C>A	ENSP00000353988:p.Val57Phe						p.V57F	NM_001003745	NP_001003745	P58181	O10A3_HUMAN		Epithelial(150;1.38e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)	1	169	-			57			Helical; Name=2; (Potential).		B9EH39|Q6IF58|Q96R11	Missense_Mutation	SNP	ENST00000360759.3	37	c.169G>T	CCDS31421.1	.	.	.	.	.	.	.	.	.	.	C	10.39	1.337553	0.24253	.	.	ENSG00000170683	ENST00000360759	T	0.00406	7.55	4.95	-3.29	0.05017	GPCR, rhodopsin-like superfamily (1);	0.891913	0.09206	U	0.833956	T	0.00271	0.0008	N	0.17474	0.49	0.09310	N	1	P	0.38745	0.645	B	0.39590	0.304	T	0.48456	-0.9034	10	0.87932	D	0	.	12.4532	0.55688	0.0:0.2205:0.0:0.7795	.	57	P58181	O10A3_HUMAN	F	57	ENSP00000353988:V57F	ENSP00000353988:V57F	V	-	1	0	OR10A3	7917475	0.000000	0.05858	0.001000	0.08648	0.199000	0.23934	-0.096000	0.11059	-0.468000	0.06922	-0.133000	0.14855	GTT		PASS	0.483	OR10A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385704.1	NM_001003745		45	53	45	53	---	---	---	---
ABCC8	6833	broad.mit.edu	37	11	17450148	17450148	+	Silent	SNP	G	G	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr11:17450148G>T	ENST00000389817.3	-	13	1955	c.1887C>A	c.(1885-1887)ccC>ccA	p.P629P	ABCC8_ENST00000528202.1_5'Flank|ABCC8_ENST00000302539.4_Silent_p.P629P			Q09428	ABCC8_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 8	629					carbohydrate metabolic process (GO:0005975)|energy reserve metabolic process (GO:0006112)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of insulin secretion (GO:0050796)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	plasma membrane (GO:0005886)|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 ion transmembrane transporter activity (GO:0015079)|sulfonylurea receptor activity (GO:0008281)	p.P629P(1)		NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(38)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	67				READ - Rectum adenocarcinoma(2;0.0325)|Colorectal(2;0.1)	Adenosine triphosphate(DB00171)|Chlorpropamide(DB00672)|Gliclazide(DB01120)|Glimepiride(DB00222)|Glipizide(DB01067)|Gliquidone(DB01251)|Glyburide(DB01016)|Glycodiazine(DB01382)|Mitiglinide(DB01252)|Nateglinide(DB00731)|Repaglinide(DB00912)|Tolbutamide(DB01124)	CCTGAGGTGTGGGCTCATGGG	0.627																																						uc001mnc.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1	GRCh37	CD952204	ABCC8	D		c.(1885-1887)CCC>CCA		ATP-binding cassette, sub-family C, member 8	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)|Gliclazide(DB01120)|Mitiglinide(DB01252)|Nateglinide(DB00731)|Repaglinide(DB00912)						75.0	73.0	73.0					11																	17450148		2200	4293	6493	SO:0001819	synonymous_variant	6833				carbohydrate metabolic process|energy reserve metabolic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium ion transmembrane transporter activity|sulfonylurea receptor activity	g.chr11:17450148G>T	L78207	CCDS31437.1, CCDS73264.1	11p15.1	2014-09-17			ENSG00000006071	ENSG00000006071		"""ATP binding cassette transporters / subfamily C"""	59	protein-coding gene	gene with protein product	"""sulfonylurea receptor (hyperinsulinemia)"""	600509		SUR, HRINS		7920639, 7716548	Standard	NM_000352		Approved	HI, PHHI, SUR1, MRP8, ABC36, HHF1, TNDM2	uc001mnc.3	Q09428	OTTHUMG00000166316	ENST00000389817.3:c.1887C>A	11.37:g.17450148G>T							p.P629P	NM_000352	NP_000343	Q09428	ABCC8_HUMAN		READ - Rectum adenocarcinoma(2;0.0325)|Colorectal(2;0.1)	13	2013	-			629			Cytoplasmic (By similarity).		A6NMX8|E3UYX6|O75948|Q16583	Silent	SNP	ENST00000389817.3	37	c.1887C>A	CCDS31437.1																																																																																				PASS	0.627	ABCC8-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000389093.1	NM_000352		36	51	36	51	---	---	---	---
CSRP3	8048	broad.mit.edu	37	11	19209755	19209755	+	Missense_Mutation	SNP	C	C	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr11:19209755C>T	ENST00000533783.1	-	4	449	c.209G>A	c.(208-210)gGg>gAg	p.G70E	CSRP3_ENST00000265968.3_Missense_Mutation_p.G70E	NM_003476.4	NP_003467.1	P50461	CSRP3_HUMAN	cysteine and glycine-rich protein 3 (cardiac LIM protein)	70	Gly-rich.				cardiac muscle contraction (GO:0060048)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue development (GO:0048738)|cardiac myofibril assembly (GO:0055003)|cellular calcium ion homeostasis (GO:0006874)|detection of muscle stretch (GO:0035995)|protein localization to organelle (GO:0033365)|regulation of the force of heart contraction (GO:0002026)|skeletal muscle tissue development (GO:0007519)	cytoskeleton (GO:0005856)|nucleus (GO:0005634)|Z disc (GO:0030018)	actinin binding (GO:0042805)|structural constituent of muscle (GO:0008307)|telethonin binding (GO:0031433)|zinc ion binding (GO:0008270)	p.G70E(1)		kidney(2)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(2)	10						ATACCCGATCCCTTTGGGGCC	0.607																																						uc001mpk.2																			1	Substitution - Missense(1)		lung(1)		0						c.(208-210)GGG>GAG		cysteine and glycine-rich protein 3							145.0	125.0	132.0					11																	19209755		2199	4293	6492	SO:0001583	missense	8048				cell differentiation|skeletal muscle tissue development	cytoskeleton|nucleus	protein binding|zinc ion binding	g.chr11:19209755C>T	U20324	CCDS7848.1	11p15.1	2014-09-17				ENSG00000129170			2472	protein-coding gene	gene with protein product		600824				7490106	Standard	NM_003476		Approved	CLP, MLP, CMD1M	uc001mpk.3	P50461		ENST00000533783.1:c.209G>A	11.37:g.19209755C>T	ENSP00000431813:p.Gly70Glu						p.G70E	NM_003476	NP_003467	P50461	CSRP3_HUMAN			3	326	-			70			Gly-rich.		Q9P131	Missense_Mutation	SNP	ENST00000533783.1	37	c.209G>A	CCDS7848.1	.	.	.	.	.	.	.	.	.	.	C	20.9	4.058579	0.76074	.	.	ENSG00000129170	ENST00000265968;ENST00000533783	D;D	0.94330	-3.4;-3.4	5.64	5.64	0.86602	.	0.000000	0.85682	D	0.000000	D	0.96756	0.8941	M	0.79123	2.44	0.80722	D	1	D	0.76494	0.999	D	0.79784	0.993	D	0.96961	0.9701	10	0.87932	D	0	-6.8948	19.3105	0.94186	0.0:1.0:0.0:0.0	.	70	P50461	CSRP3_HUMAN	E	70	ENSP00000265968:G70E;ENSP00000431813:G70E	ENSP00000265968:G70E	G	-	2	0	CSRP3	19166331	1.000000	0.71417	0.995000	0.50966	0.252000	0.25951	7.731000	0.84895	2.664000	0.90586	0.655000	0.94253	GGG		PASS	0.607	CSRP3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394484.1	NM_003476		76	85	76	85	---	---	---	---
DBX1	120237	broad.mit.edu	37	11	20177907	20177907	+	Silent	SNP	G	G	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr11:20177907G>A	ENST00000524983.2	-	4	1173	c.885C>T	c.(883-885)tcC>tcT	p.S295S	DBX1_ENST00000227256.3_Silent_p.S334S			A6NMT0	DBX1_HUMAN	developing brain homeobox 1	295					regulation of transcription from RNA polymerase II promoter (GO:0006357)|ventral spinal cord interneuron specification (GO:0021521)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)	p.S334S(1)		endometrium(2)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|skin(2)	21						GCTGGGGGTCGGAGGACGCGT	0.731																																						uc001mpw.1																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(1000-1002)TCC>TCT		developing brain homeobox 1							14.0	18.0	17.0					11																	20177907		2179	4261	6440	SO:0001819	synonymous_variant	120237				multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr11:20177907G>A			11p15.1	2011-06-20				ENSG00000109851		"""Homeoboxes / ANTP class : NKL subclass"""	33185	protein-coding gene	gene with protein product						11239429	Standard	NM_001029865		Approved		uc021qey.1	A6NMT0		ENST00000524983.2:c.885C>T	11.37:g.20177907G>A							p.S334S	NM_001029865	NP_001025036	A6NMT0	DBX1_HUMAN			4	1002	-			295						Silent	SNP	ENST00000524983.2	37	c.1002C>T																																																																																					PASS	0.731	DBX1-001	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000387585.2	NM_001029865		11	23	11	23	---	---	---	---
PRMT3	10196	broad.mit.edu	37	11	20515791	20515791	+	Missense_Mutation	SNP	G	G	C			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr11:20515791G>C	ENST00000331079.6	+	15	1694	c.1477G>C	c.(1477-1479)Gtt>Ctt	p.V493L	PRMT3_ENST00000437750.2_Missense_Mutation_p.V431L	NM_001145167.1|NM_005788.3	NP_001138639.1|NP_005779	O60678	ANM3_HUMAN	protein arginine methyltransferase 3	493	SAM-dependent MTase PRMT-type. {ECO:0000255|PROSITE-ProRule:PRU01015}.				histone arginine methylation (GO:0034969)|negative regulation of protein ubiquitination (GO:0031397)|peptidyl-arginine methylation, to asymmetrical-dimethyl arginine (GO:0019919)|regulation of transcription, DNA-templated (GO:0006355)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|ribosome (GO:0005840)	histone-arginine N-methyltransferase activity (GO:0008469)|metal ion binding (GO:0046872)|methyltransferase activity (GO:0008168)|modified amino acid binding (GO:0072341)|protein-arginine N-methyltransferase activity (GO:0016274)|protein-arginine omega-N asymmetric methyltransferase activity (GO:0035242)	p.V493L(1)		endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|prostate(1)	17						ACCATTTTCAGTTAAAGCAGG	0.378																																						uc001mqb.2																			1	Substitution - Missense(1)		lung(1)		0						c.(1477-1479)GTT>CTT		protein arginine methyltransferase 3 isoform 1							106.0	115.0	112.0					11																	20515791		2203	4300	6503	SO:0001583	missense	10196						zinc ion binding	g.chr11:20515791G>C	AF059531	CCDS7853.1, CCDS44554.1	11p15.1	2008-02-05	2006-02-16	2006-02-16	ENSG00000185238	ENSG00000185238		"""Protein arginine methyltransferases"""	30163	protein-coding gene	gene with protein product		603190	"""HMT1 hnRNP methyltransferase-like 3 (S. cerevisiae)"""	HRMT1L3		9642256	Standard	NM_005788		Approved		uc001mqb.3	O60678	OTTHUMG00000166022	ENST00000331079.6:c.1477G>C	11.37:g.20515791G>C	ENSP00000331879:p.Val493Leu					PRMT3_uc001mqc.2_Missense_Mutation_p.V416L|PRMT3_uc010rdn.1_Missense_Mutation_p.V431L	p.V493L	NM_005788	NP_005779	O60678	ANM3_HUMAN			15	1694	+			493					B4DUC7	Missense_Mutation	SNP	ENST00000331079.6	37	c.1477G>C	CCDS7853.1	.	.	.	.	.	.	.	.	.	.	G	15.78	2.933894	0.52866	.	.	ENSG00000185238	ENST00000331079;ENST00000541255;ENST00000437750	D;D	0.85955	-2.05;-2.05	5.63	4.72	0.59763	.	0.158237	0.56097	D	0.000030	T	0.81356	0.4805	L	0.53729	1.69	0.54753	D	0.999985	B;B	0.21606	0.058;0.003	B;B	0.18871	0.023;0.003	T	0.76982	-0.2757	10	0.34782	T	0.22	-16.6145	13.7006	0.62606	0.0746:0.0:0.9254:0.0	.	431;493	O60678-2;O60678	.;ANM3_HUMAN	L	493;493;431	ENSP00000331879:V493L;ENSP00000397766:V431L	ENSP00000331879:V493L	V	+	1	0	PRMT3	20472367	1.000000	0.71417	0.867000	0.34043	0.984000	0.73092	4.908000	0.63307	2.675000	0.91044	0.586000	0.80456	GTT		PASS	0.378	PRMT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387489.1	NM_005788		112	90	112	90	---	---	---	---
NELL1	4745	broad.mit.edu	37	11	20940811	20940811	+	Nonsense_Mutation	SNP	C	C	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr11:20940811C>A	ENST00000357134.5	+	7	842	c.690C>A	c.(688-690)tgC>tgA	p.C230*	NELL1_ENST00000298925.5_Nonsense_Mutation_p.C258*|NELL1_ENST00000532434.1_Nonsense_Mutation_p.C230*|NELL1_ENST00000325319.5_Nonsense_Mutation_p.C173*	NM_006157.3|NM_201551.1	NP_006148.2|NP_963845.1	Q92832	NELL1_HUMAN	NEL-like 1 (chicken)	230					cell differentiation (GO:0030154)|negative regulation of cyclin catabolic process (GO:2000599)|negative regulation of osteoblast proliferation (GO:0033689)|nervous system development (GO:0007399)|positive regulation of bone mineralization (GO:0030501)|positive regulation of osteoblast differentiation (GO:0045669)|regulation of gene expression (GO:0010468)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|nuclear envelope (GO:0005635)|perinuclear region of cytoplasm (GO:0048471)	calcium ion binding (GO:0005509)	p.C230*(1)		NS(1)|breast(3)|endometrium(5)|kidney(3)|large_intestine(15)|lung(36)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	70						GCCCAACCTGCAGTGATTTCT	0.303																																						uc001mqe.2																			1	Substitution - Nonsense(1)		lung(1)	ovary(2)|large_intestine(1)	3						c.(688-690)TGC>TGA		nel-like 1 isoform 1 precursor							100.0	97.0	98.0					11																	20940811		2203	4299	6502	SO:0001587	stop_gained	4745				cell adhesion|nervous system development	extracellular region	calcium ion binding|structural molecule activity	g.chr11:20940811C>A	AK127805	CCDS7855.1, CCDS44555.1, CCDS73267.1, CCDS73268.1	11p15.1	2008-02-01	2001-11-28		ENSG00000165973	ENSG00000165973			7750	protein-coding gene	gene with protein product		602319	"""nel (chicken)-like 1"""			8975702	Standard	NM_006157		Approved	IDH3GL, FLJ45906	uc001mqe.3	Q92832	OTTHUMG00000166042	ENST00000357134.5:c.690C>A	11.37:g.20940811C>A	ENSP00000349654:p.Cys230*					NELL1_uc001mqf.2_Nonsense_Mutation_p.C230*|NELL1_uc009yid.2_Nonsense_Mutation_p.C258*|NELL1_uc010rdo.1_Nonsense_Mutation_p.C173*|NELL1_uc010rdp.1_Intron	p.C230*	NM_006157	NP_006148	Q92832	NELL1_HUMAN			7	843	+			230			TSP N-terminal.		B2CKC1|Q4VB90|Q4VB91|Q6NSY8|Q9Y472	Nonsense_Mutation	SNP	ENST00000357134.5	37	c.690C>A	CCDS7855.1	.	.	.	.	.	.	.	.	.	.	C	25.5	4.641117	0.87859	.	.	ENSG00000165973	ENST00000298925;ENST00000357134;ENST00000325319;ENST00000532434	.	.	.	5.84	3.01	0.34805	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-13.565	10.8896	0.46988	0.0:0.7974:0.0:0.2026	.	.	.	.	X	258;230;173;230	.	ENSP00000298925:C258X	C	+	3	2	NELL1	20897387	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	3.575000	0.53870	0.400000	0.25396	-0.781000	0.03364	TGC		PASS	0.303	NELL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387588.1	NM_006157		50	38	50	38	---	---	---	---
BBOX1	8424	broad.mit.edu	37	11	27148882	27148882	+	Missense_Mutation	SNP	G	G	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr11:27148882G>A	ENST00000529202.1	+	8	1385	c.1046G>A	c.(1045-1047)cGa>cAa	p.R349Q	BBOX1_ENST00000263182.3_Missense_Mutation_p.R349Q|RP11-1L12.3_ENST00000530430.1_RNA|RP11-1L12.3_ENST00000525302.1_RNA|RP11-1L12.3_ENST00000526061.1_RNA|BBOX1_ENST00000528583.1_Missense_Mutation_p.R349Q|BBOX1_ENST00000525090.1_Missense_Mutation_p.R349Q			O75936	BODG_HUMAN	butyrobetaine (gamma), 2-oxoglutarate dioxygenase (gamma-butyrobetaine hydroxylase) 1	349					carnitine biosynthetic process (GO:0045329)|cellular nitrogen compound metabolic process (GO:0034641)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	gamma-butyrobetaine dioxygenase activity (GO:0008336)|iron ion binding (GO:0005506)|zinc ion binding (GO:0008270)	p.R349Q(1)		breast(1)|kidney(3)|large_intestine(3)|lung(10)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	23					Succinic acid(DB00139)|Vitamin C(DB00126)	CTTCATGGCCGACGTAGCTAT	0.413																																						uc001mre.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1045-1047)CGA>CAA		gamma-butyrobetaine dioxygenase	Succinic acid(DB00139)|Vitamin C(DB00126)						128.0	111.0	117.0					11																	27148882		2202	4299	6501	SO:0001583	missense	8424				carnitine biosynthetic process	actin cytoskeleton|cytosol|intracellular membrane-bounded organelle	gamma-butyrobetaine dioxygenase activity|iron ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding	g.chr11:27148882G>A	AF082868	CCDS7862.1	11p	2008-02-01			ENSG00000129151	ENSG00000129151	1.14.11.1		964	protein-coding gene	gene with protein product		603312		BBOX		9753662	Standard	XM_005253159		Approved	gamma-BBH, G-BBH, BBH	uc001mre.1	O75936	OTTHUMG00000166121	ENST00000529202.1:c.1046G>A	11.37:g.27148882G>A	ENSP00000435781:p.Arg349Gln					BBOX1_uc009yih.1_Missense_Mutation_p.R349Q|BBOX1_uc001mrg.1_Missense_Mutation_p.R349Q	p.R349Q	NM_003986	NP_003977	O75936	BODG_HUMAN			9	1414	+			349					B2R8L7|D3DQZ1|Q6IBJ2	Missense_Mutation	SNP	ENST00000529202.1	37	c.1046G>A	CCDS7862.1	.	.	.	.	.	.	.	.	.	.	G	35	5.456644	0.96223	.	.	ENSG00000129151	ENST00000529202;ENST00000263182;ENST00000528583;ENST00000525090	D;D;D;D	0.96396	-4.0;-4.0;-4.0;-4.0	5.88	5.88	0.94601	.	0.000000	0.85682	D	0.000000	D	0.98635	0.9543	M	0.92555	3.32	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99372	1.0920	10	0.87932	D	0	.	18.7825	0.91939	0.0:0.0:1.0:0.0	.	349	O75936	BODG_HUMAN	Q	349	ENSP00000435781:R349Q;ENSP00000263182:R349Q;ENSP00000434918:R349Q;ENSP00000433772:R349Q	ENSP00000263182:R349Q	R	+	2	0	BBOX1	27105458	1.000000	0.71417	0.918000	0.36340	0.977000	0.68977	8.629000	0.90983	2.780000	0.95670	0.655000	0.94253	CGA		PASS	0.413	BBOX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387946.1	NM_003986		52	81	52	81	---	---	---	---
KCNA4	3739	broad.mit.edu	37	11	30033380	30033380	+	Silent	SNP	C	C	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr11:30033380C>T	ENST00000328224.6	-	2	2079	c.846G>A	c.(844-846)agG>agA	p.R282R	KCNA4_ENST00000526518.1_5'Flank	NM_002233.3	NP_002224.1	P22459	KCNA4_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 4	282					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	potassium ion binding (GO:0030955)|voltage-gated potassium channel activity (GO:0005249)	p.R282R(1)		central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(39)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	78					Dalfampridine(DB06637)	CGGGGAGGGCCCTGTCTTCCT	0.512																																						uc001msk.2																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|central_nervous_system(1)|pancreas(1)	4						c.(844-846)AGG>AGA		potassium voltage-gated channel, shaker-related							54.0	51.0	52.0					11																	30033380		1899	4116	6015	SO:0001819	synonymous_variant	3739					voltage-gated potassium channel complex	potassium ion binding|protein binding|voltage-gated potassium channel activity	g.chr11:30033380C>T	M55514	CCDS41629.1	11p14	2012-07-05	2002-07-10			ENSG00000182255		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6222	protein-coding gene	gene with protein product		176266	"""potassium voltage-gated channel, shaker-related subfamily, member 4-like"""	KCNA4L		2263489, 16382104	Standard	NM_002233		Approved	Kv1.4, HK1, HPCN2	uc001msk.3	P22459		ENST00000328224.6:c.846G>A	11.37:g.30033380C>T							p.R282R	NM_002233	NP_002224	P22459	KCNA4_HUMAN			2	1998	-			282						Silent	SNP	ENST00000328224.6	37	c.846G>A	CCDS41629.1																																																																																				PASS	0.512	KCNA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388074.2	NM_002233		26	95	26	95	---	---	---	---
MPPED2	744	broad.mit.edu	37	11	30516883	30516883	+	Nonsense_Mutation	SNP	C	C	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr11:30516883C>A	ENST00000358117.5	-	3	618	c.496G>T	c.(496-498)Gag>Tag	p.E166*	MPPED2_ENST00000448418.2_Nonsense_Mutation_p.E166*	NM_001584.2	NP_001575.1	Q15777	MPPD2_HUMAN	metallophosphoesterase domain containing 2	166					nervous system development (GO:0007399)		hydrolase activity (GO:0016787)|metal ion binding (GO:0046872)	p.E166*(2)		NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|liver(1)|lung(15)|skin(2)|upper_aerodigestive_tract(2)	33						ACTGTTACCTCCGAATCTTGT	0.418																																						uc001msr.2																			2	Substitution - Nonsense(2)		lung(2)	skin(1)	1						c.(496-498)GAG>TAG		metallophosphoesterase domain containing 2							141.0	126.0	132.0					11																	30516883		2202	4299	6501	SO:0001587	stop_gained	744				nervous system development		hydrolase activity|metal ion binding	g.chr11:30516883C>A	U57911	CCDS7870.1, CCDS44560.1	11p13	2008-07-18	2005-10-10	2005-10-10	ENSG00000066382	ENSG00000066382			1180	protein-coding gene	gene with protein product		600911	"""chromosome 11 open reading frame 8"""	C11orf8		8666403, 9266672	Standard	NM_001584		Approved	239FB, D11S302E, Hs.46638, FAM1B, dJ873F21.1, dJ1024C24.1	uc001msr.3	Q15777	OTTHUMG00000166159	ENST00000358117.5:c.496G>T	11.37:g.30516883C>A	ENSP00000350833:p.Glu166*					MPPED2_uc001msq.3_Nonsense_Mutation_p.E166*|MPPED2_uc009yji.2_Nonsense_Mutation_p.E40*	p.E166*	NM_001584	NP_001575	Q15777	MPPD2_HUMAN			3	616	-			166					D3DQZ5|E9PB10|Q59GE6	Nonsense_Mutation	SNP	ENST00000358117.5	37	c.496G>T	CCDS7870.1	.	.	.	.	.	.	.	.	.	.	C	38	6.789438	0.97841	.	.	ENSG00000066382	ENST00000448418;ENST00000358117	.	.	.	5.61	5.61	0.85477	.	0.044205	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.07175	T	0.84	-12.3436	19.6426	0.95764	0.0:1.0:0.0:0.0	.	.	.	.	X	166	.	ENSP00000350833:E166X	E	-	1	0	MPPED2	30473459	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.818000	0.86416	2.650000	0.89964	0.655000	0.94253	GAG		PASS	0.418	MPPED2-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388155.2	NM_001584		38	72	38	72	---	---	---	---
DCDC1	341019	broad.mit.edu	37	11	30953472	30953472	+	Missense_Mutation	SNP	G	G	C			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr11:30953472G>C	ENST00000597505.1	-	20	2742	c.2743C>G	c.(2743-2745)Ctt>Gtt	p.L915V	DCDC1_ENST00000437348.1_5'UTR|DCDC1_ENST00000339794.5_5'UTR|DCDC1_ENST00000406071.2_5'UTR			P59894	DCDC1_HUMAN	doublecortin domain containing 1	268					intracellular signal transduction (GO:0035556)					central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(17)|pancreas(2)|prostate(1)|skin(1)|stomach(1)	31	Lung SC(675;0.225)					CTCGGAACAAGCAGTCCTTGT	0.383																																						uc009yjk.1																			0											c.(1087-1089)CTT>GTT		RecName: Full=Doublecortin domain-containing protein 5;							61.0	62.0	62.0					11																	30953472		2202	4299	6501	SO:0001583	missense	0							g.chr11:30953472G>C	AY247970	CCDS7872.1	11p14.1	2013-05-22			ENSG00000170959	ENSG00000170959			20625	protein-coding gene	gene with protein product		608062				12820024	Standard	NM_181807		Approved		uc001msv.3	P59894	OTTHUMG00000150144	ENST00000597505.1:c.2743C>G	11.37:g.30953472G>C	ENSP00000472625:p.Leu915Val					uc009yjl.1_3'UTR	p.L363V							10	1156	-								A6PVL6|B7WNX6|Q6ZU04	Missense_Mutation	SNP	ENST00000597505.1	37	c.1087C>G																																																																																					PASS	0.383	DCDC1-010	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000463167.1	NM_181807		30	38	30	38	---	---	---	---
RCN1	5954	broad.mit.edu	37	11	32119896	32119896	+	Splice_Site	SNP	G	G	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr11:32119896G>T	ENST00000054950.3	+	3	742	c.449G>T	c.(448-450)gGa>gTa	p.G150V	RP1-65P5.3_ENST00000533009.1_RNA|RCN1_ENST00000532942.1_Splice_Site_p.G99V	NM_002901.2	NP_002892.1	Q15293	RCN1_HUMAN	reticulocalbin 1, EF-hand calcium binding domain	150	EF-hand 2. {ECO:0000255|PROSITE- ProRule:PRU00448}.				camera-type eye development (GO:0043010)|in utero embryonic development (GO:0001701)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)	calcium ion binding (GO:0005509)	p.G150V(1)		breast(2)|endometrium(2)|kidney(2)|large_intestine(5)|lung(6)	17	Lung SC(675;0.225)					CATCCTGCAGGAAACCCCGCA	0.443																																						uc010reb.1																			1	Substitution - Missense(1)		lung(1)	large_intestine(1)	1						c.(448-450)GGA>GTA		reticulocalbin 1 precursor							63.0	58.0	60.0					11																	32119896		2202	4299	6501	SO:0001630	splice_region_variant	5954					endoplasmic reticulum lumen	calcium ion binding	g.chr11:32119896G>T	D42073	CCDS7876.1	11p13	2013-01-10			ENSG00000049449	ENSG00000049449		"""EF-hand domain containing"""	9934	protein-coding gene	gene with protein product	"""proliferation-inducing gene 20"""	602735		RCN		9192846, 8586628	Standard	NM_002901		Approved	Rcal, PIG20, FLJ37041	uc010reb.2	Q15293		ENST00000054950.3:c.449-1G>T	11.37:g.32119896G>T						RCN1_uc010rea.1_Missense_Mutation_p.G99V|RCN1_uc001mtk.2_5'UTR	p.G150V	NM_002901	NP_002892	Q15293	RCN1_HUMAN			3	715	+	Lung SC(675;0.225)		150			EF-hand 2.		B7Z1M1|D3DR00	Missense_Mutation	SNP	ENST00000054950.3	37	c.449G>T	CCDS7876.1	.	.	.	.	.	.	.	.	.	.	g	13.64	2.297270	0.40694	.	.	ENSG00000049449	ENST00000532942;ENST00000054950	T;T	0.57436	0.4;0.74	5.72	5.72	0.89469	EF-hand-like domain (1);	0.247916	0.38663	N	0.001619	T	0.37865	0.1019	L	0.29908	0.895	0.80722	D	1	B;B	0.34181	0.054;0.44	B;B	0.36289	0.039;0.221	T	0.22941	-1.0202	9	.	.	.	.	6.6716	0.23072	0.1124:0.1785:0.7091:0.0	.	150;99	Q15293;B7Z1M1	RCN1_HUMAN;.	V	99;150	ENSP00000436422:G99V;ENSP00000054950:G150V	.	G	+	2	0	RCN1	32076472	1.000000	0.71417	1.000000	0.80357	0.620000	0.37586	4.496000	0.60360	2.718000	0.92993	0.591000	0.81541	GGA		PASS	0.443	RCN1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388510.1	NM_002901	Missense_Mutation	31	76	31	76	---	---	---	---
WT1-AS	51352	broad.mit.edu	37	11	32460663	32460663	+	RNA	SNP	C	C	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr11:32460663C>T	ENST00000395900.1	+	0	1541				WT1-AS_ENST00000478367.1_RNA|WT1-AS_ENST00000494911.1_RNA|WT1-AS_ENST00000426618.2_RNA|WT1-AS_ENST00000442957.1_RNA|WT1-AS_ENST00000459866.1_RNA|WT1-AS_ENST00000525436.1_RNA	NR_023920.1		Q06250	WIT1_HUMAN	WT1 antisense RNA									p.P79L(1)		endometrium(1)|large_intestine(2)|lung(2)|prostate(1)	6						GTGCGCACGCCTGGGCCGCCC	0.667																																						uc010rec.1																			1	Substitution - Missense(1)		lung(1)		0								full-length cDNA clone CS0DC024YP12 of Neuroblastoma Cot 25-normalized of Homo sapiens (human).							15.0	17.0	16.0					11																	32460663		2189	4289	6478			51352							g.chr11:32460663C>T	BC002734		11p13	2012-10-19	2012-08-15	2012-01-25	ENSG00000183242	ENSG00000183242		"""Long non-coding RNAs"", ""-"""	18135	non-coding RNA	RNA, long non-coding	"""Wilms tumor associated protein"""	607899	"""Wilms tumor upstream neighbor 1"", ""WT1 antisense RNA (non-protein coding)"""	WIT1		2173145, 8406502, 17210670	Standard	NR_120546		Approved	WIT-1, WT1AS, WT1-AS1	uc010red.2	Q06250	OTTHUMG00000039557		11.37:g.32460663C>T						WIT1_uc010red.1_RNA|WIT1_uc010ree.1_Intron		NR_023920						2		+	Breast(20;0.247)							Q4KMY0|Q96A27	RNA	SNP	ENST00000395900.1	37	c.1381C>T																																																																																					PASS	0.667	WT1-AS-001	KNOWN	basic	antisense	antisense	OTTHUMT00000095437.1	NR_023920		9	11	9	11	---	---	---	---
KIAA1549L	25758	broad.mit.edu	37	11	33612940	33612940	+	Missense_Mutation	SNP	C	C	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr11:33612940C>A	ENST00000321505.4	+	11	4013	c.3833C>A	c.(3832-3834)aCc>aAc	p.T1278N	KIAA1549L_ENST00000265654.5_Intron|KIAA1549L_ENST00000389726.3_Missense_Mutation_p.T1284N			Q6ZVL6	K154L_HUMAN	KIAA1549-like	1278						integral component of membrane (GO:0016021)		p.T1278N(1)									ACCATCAAGACCGCCAAATCC	0.522																																						uc001mup.3																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(3850-3852)ACC>AAC		hypothetical protein LOC25758							74.0	76.0	75.0					11																	33612940		2011	4163	6174	SO:0001583	missense	25758					integral to membrane		g.chr11:33612940C>A	U10991	CCDS44565.1, CCDS44565.2	11p13	2012-08-09	2012-08-09	2012-08-09	ENSG00000110427	ENSG00000110427			24836	protein-coding gene	gene with protein product		612297	"""chromosome 11 open reading frame 69"", ""chromosome 11 open reading frame 41"""	C11orf69, C11orf41			Standard	NM_012194		Approved	G2, MGC34830	uc021qfs.1	Q6ZVL6	OTTHUMG00000150410	ENST00000321505.4:c.3833C>A	11.37:g.33612940C>A	ENSP00000315295:p.Thr1278Asn					C11orf41_uc001mun.1_Intron	p.T1284N	NM_012194	NP_036326	Q6ZVL6	CK041_HUMAN			11	3975	+			1278					B0QYU0	Missense_Mutation	SNP	ENST00000321505.4	37	c.3851C>A	CCDS44565.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	16.07|16.07	3.018603|3.018603	0.54576|0.54576	.|.	.|.	ENSG00000110427|ENSG00000110427	ENST00000526400|ENST00000321505;ENST00000389726;ENST00000536568	.|.	.|.	.|.	5.6|5.6	5.6|5.6	0.85130|0.85130	.|.	.|0.253807	.|0.45361	.|D	.|0.000372	T|T	0.70868|0.70868	0.3273|0.3273	L|L	0.56769|0.56769	1.78|1.78	0.34892|0.34892	D|D	0.74562|0.74562	.|D	.|0.89917	.|1.0	.|D	.|0.77557	.|0.99	T|T	0.77448|0.77448	-0.2584|-0.2584	5|9	.|0.48119	.|T	.|0.1	-15.5712|-15.5712	12.9028|12.9028	0.58135|0.58135	0.0:0.9258:0.0:0.0742|0.0:0.9258:0.0:0.0742	.|.	.|1284	.|E9PAT2	.|.	T|N	676|1278;1284;1117	.|.	.|ENSP00000315295:T1278N	P|T	+|+	1|2	0|0	C11orf41|C11orf41	33569516|33569516	0.991000|0.991000	0.36638|0.36638	0.986000|0.986000	0.45419|0.45419	0.567000|0.567000	0.35839|0.35839	2.966000|2.966000	0.49208|0.49208	2.648000|2.648000	0.89879|0.89879	0.561000|0.561000	0.74099|0.74099	CCG|ACC		PASS	0.522	KIAA1549L-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000317998.1	NM_012194		43	77	43	77	---	---	---	---
RAG1	5896	broad.mit.edu	37	11	36597797	36597797	+	Missense_Mutation	SNP	G	G	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr11:36597797G>T	ENST00000299440.5	+	2	3055	c.2943G>T	c.(2941-2943)caG>caT	p.Q981H		NM_000448.2	NP_000439	P15918	RAG1_HUMAN	recombination activating gene 1	981			Q -> P (in T-CMVA; dbSNP:rs104894288). {ECO:0000269|PubMed:16276422}.		adaptive immune response (GO:0002250)|B cell differentiation (GO:0030183)|DNA recombination (GO:0006310)|histone monoubiquitination (GO:0010390)|immune response (GO:0006955)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of thymocyte apoptotic process (GO:0070244)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|pre-B cell allelic exclusion (GO:0002331)|protein autoubiquitination (GO:0051865)|regulation of T cell differentiation (GO:0045580)|T cell differentiation in thymus (GO:0033077)|T cell homeostasis (GO:0043029)|thymus development (GO:0048538)|V(D)J recombination (GO:0033151)	nucleus (GO:0005634)	acid-amino acid ligase activity (GO:0016881)|DNA binding (GO:0003677)|endonuclease activity (GO:0004519)|histone binding (GO:0042393)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding (GO:0043565)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.Q981H(1)		NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1)	65	all_lung(20;0.226)	all_hematologic(20;0.107)				ATGCCAGGCAGTCCAAATGCT	0.438									Familial Hemophagocytic Lymphohistiocytosis																												Pancreas(43;321 1249 3212 48200)|Esophageal Squamous(38;49 1003 17530 24363)	uc001mwu.3																			1	Substitution - Missense(1)		lung(1)	ovary(1)|pancreas(1)|lung(1)|kidney(1)|skin(1)	5						c.(2941-2943)CAG>CAT		recombination activating gene 1							96.0	99.0	98.0					11																	36597797		2202	4298	6500	SO:0001583	missense	5896	Familial_Hemophagocytic_Lymphohistiocytosis	Familial Cancer Database	FHLH, FHL, Familial Hemophagocytic Reticulosis, FHR	histone monoubiquitination|immune response|pre-B cell allelic exclusion|protein autoubiquitination|T cell differentiation in thymus|V(D)J recombination	nucleus	endonuclease activity|histone binding|protein homodimerization activity|sequence-specific DNA binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr11:36597797G>T	M29474	CCDS7902.1	11p13	2014-09-17				ENSG00000166349		"""RING-type (C3HC4) zinc fingers"""	9831	protein-coding gene	gene with protein product	"""recombination activating protein 1"", ""RING finger protein 74"", ""V(D)J recombination-activating protein 1"""	179615				1612612, 1283330	Standard	NM_000448		Approved	RNF74, MGC43321	uc001mwu.4	P15918		ENST00000299440.5:c.2943G>T	11.37:g.36597797G>T	ENSP00000299440:p.Gln981His					RAG1_uc001mwt.2_Intron	p.Q981H	NM_000448	NP_000439	P15918	RAG1_HUMAN			2	3067	+	all_lung(20;0.226)	all_hematologic(20;0.107)	981		Q -> P (in T-CMVA).			E9PPC4|Q8IY72|Q8NER2	Missense_Mutation	SNP	ENST00000299440.5	37	c.2943G>T	CCDS7902.1	.	.	.	.	.	.	.	.	.	.	G	18.11	3.551022	0.65311	.	.	ENSG00000166349	ENST00000299440	T	0.73575	-0.76	5.63	5.63	0.86233	.	0.000000	0.85682	D	0.000000	D	0.83330	0.5231	L	0.61218	1.895	0.80722	D	1	D	0.64830	0.994	D	0.74348	0.983	T	0.82045	-0.0652	9	.	.	.	.	14.2973	0.66321	0.0711:0.0:0.9289:0.0	.	981	P15918	RAG1_HUMAN	H	981	ENSP00000299440:Q981H	.	Q	+	3	2	RAG1	36554373	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	6.389000	0.73199	2.827000	0.97445	0.644000	0.83932	CAG		PASS	0.438	RAG1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389535.1	NM_000448		73	92	73	92	---	---	---	---
LRRC4C	57689	broad.mit.edu	37	11	40137179	40137179	+	Missense_Mutation	SNP	C	C	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr11:40137179C>A	ENST00000278198.2	-	2	2627	c.664G>T	c.(664-666)Gat>Tat	p.D222Y	LRRC4C_ENST00000527150.1_Missense_Mutation_p.D222Y|LRRC4C_ENST00000528697.1_Missense_Mutation_p.D222Y|LRRC4C_ENST00000530763.1_Missense_Mutation_p.D222Y			Q9HCJ2	LRC4C_HUMAN	leucine rich repeat containing 4C	222					regulation of axonogenesis (GO:0050770)	cell junction (GO:0030054)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|postsynaptic membrane (GO:0045211)		p.D222Y(1)		NS(2)|central_nervous_system(3)|endometrium(1)|large_intestine(14)|lung(43)|ovary(5)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	86		all_lung(304;0.0575)|Lung NSC(402;0.138)				TCCAGCTCATCTAGTTTTATG	0.468																																						uc001mxa.1																			1	Substitution - Missense(1)		lung(1)	ovary(4)|skin(3)|central_nervous_system(1)	8						c.(664-666)GAT>TAT		netrin-G1 ligand precursor							83.0	82.0	82.0					11																	40137179		2203	4300	6503	SO:0001583	missense	57689				regulation of axonogenesis	integral to membrane	protein binding	g.chr11:40137179C>A	AB046800	CCDS31464.1	11p12	2013-01-14				ENSG00000148948		"""Immunoglobulin superfamily / I-set domain containing"""	29317	protein-coding gene	gene with protein product		608817				14595443	Standard	NM_020929		Approved	KIAA1580, NGL-1	uc031pzu.1	Q9HCJ2		ENST00000278198.2:c.664G>T	11.37:g.40137179C>A	ENSP00000278198:p.Asp222Tyr					LRRC4C_uc001mxc.1_Missense_Mutation_p.D218Y|LRRC4C_uc001mxd.1_Missense_Mutation_p.D218Y|LRRC4C_uc001mxb.1_Missense_Mutation_p.D218Y	p.D222Y	NM_020929	NP_065980	Q9HCJ2	LRC4C_HUMAN			2	2628	-		all_lung(304;0.0575)|Lung NSC(402;0.138)	222			LRR 7.		A8K0T1|Q7L0N3	Missense_Mutation	SNP	ENST00000278198.2	37	c.664G>T	CCDS31464.1	.	.	.	.	.	.	.	.	.	.	C	17.04	3.287319	0.59867	.	.	ENSG00000148948	ENST00000278198;ENST00000527150;ENST00000528697;ENST00000530763	T;T;T;T	0.04360	3.64;3.64;3.64;3.64	5.44	5.44	0.79542	.	0.049235	0.85682	D	0.000000	T	0.09555	0.0235	N	0.16266	0.395	0.80722	D	1	D	0.69078	0.997	P	0.57425	0.82	T	0.19418	-1.0306	10	0.87932	D	0	.	18.2645	0.90048	0.0:1.0:0.0:0.0	.	222	Q9HCJ2	LRC4C_HUMAN	Y	222	ENSP00000278198:D222Y;ENSP00000436976:D222Y;ENSP00000437132:D222Y;ENSP00000434761:D222Y	ENSP00000278198:D222Y	D	-	1	0	LRRC4C	40093755	1.000000	0.71417	0.993000	0.49108	0.925000	0.55904	7.818000	0.86416	2.561000	0.86390	0.650000	0.86243	GAT		PASS	0.468	LRRC4C-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389499.1	NM_020929		18	129	18	129	---	---	---	---
LRP4	4038	broad.mit.edu	37	11	46911596	46911596	+	Missense_Mutation	SNP	T	T	C			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr11:46911596T>C	ENST00000378623.1	-	15	2233	c.1991A>G	c.(1990-1992)aAt>aGt	p.N664S		NM_002334.3	NP_002325.2	O75096	LRP4_HUMAN	low density lipoprotein receptor-related protein 4	664					dendrite morphogenesis (GO:0048813)|dorsal/ventral pattern formation (GO:0009953)|embryonic digit morphogenesis (GO:0042733)|endocytosis (GO:0006897)|extracellular matrix organization (GO:0030198)|hair follicle development (GO:0001942)|kidney development (GO:0001822)|limb development (GO:0060173)|negative regulation of axonogenesis (GO:0050771)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of ossification (GO:0030279)|odontogenesis of dentin-containing tooth (GO:0042475)|positive regulation of presynaptic membrane organization (GO:1901631)|postsynaptic membrane assembly (GO:0097104)|presynaptic membrane assembly (GO:0097105)|protein heterotetramerization (GO:0051290)|proximal/distal pattern formation (GO:0009954)|regulation of protein phosphorylation (GO:0001932)|skeletal muscle acetylcholine-gated channel clustering (GO:0071340)|synapse organization (GO:0050808)|synaptic growth at neuromuscular junction (GO:0051124)|Wnt signaling pathway (GO:0016055)	cell surface (GO:0009986)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|neuromuscular junction (GO:0031594)|neuronal cell body (GO:0043025)|postsynaptic density (GO:0014069)|synaptic membrane (GO:0097060)	calcium ion binding (GO:0005509)|receptor tyrosine kinase binding (GO:0030971)|scaffold protein binding (GO:0097110)	p.N664S(1)		breast(7)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(24)|ovary(3)|pancreas(2)|prostate(5)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	70				Lung(87;0.159)		GTTAGCGCTATTGATGCTCTT	0.532											OREG0020948	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc001ndn.3																			1	Substitution - Missense(1)		lung(1)	skin(2)|upper_aerodigestive_tract(1)|ovary(1)	4						c.(1990-1992)AAT>AGT		low density lipoprotein receptor-related protein							256.0	225.0	235.0					11																	46911596		2201	4299	6500	SO:0001583	missense	4038				endocytosis|negative regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	integral to membrane	calcium ion binding|receptor activity	g.chr11:46911596T>C	AB011540	CCDS31478.1	11p11.2	2013-05-29			ENSG00000134569	ENSG00000134569		"""Low density lipoprotein receptors"""	6696	protein-coding gene	gene with protein product		604270				9693030	Standard	NM_002334		Approved	MEGF7, CLSS, LRP-4, SOST2	uc001ndn.4	O75096	OTTHUMG00000166700	ENST00000378623.1:c.1991A>G	11.37:g.46911596T>C	ENSP00000367888:p.Asn664Ser		OREG0020948	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	942		p.N664S	NM_002334	NP_002325	O75096	LRP4_HUMAN		Lung(87;0.159)	15	2137	-			664			Extracellular (Potential).|LDL-receptor class B 5.		B2RN39|Q4AC85|Q5KTZ5	Missense_Mutation	SNP	ENST00000378623.1	37	c.1991A>G	CCDS31478.1	.	.	.	.	.	.	.	.	.	.	T	12.30	1.897020	0.33535	.	.	ENSG00000134569	ENST00000378623	D	0.90563	-2.69	6.03	6.03	0.97812	Six-bladed beta-propeller, TolB-like (1);Growth factor, receptor (1);	0.000000	0.85682	D	0.000000	D	0.83505	0.5269	N	0.17248	0.465	0.80722	D	1	B	0.15141	0.012	B	0.19148	0.024	T	0.78440	-0.2203	10	0.18710	T	0.47	.	16.5582	0.84512	0.0:0.0:0.0:1.0	.	664	O75096	LRP4_HUMAN	S	664	ENSP00000367888:N664S	ENSP00000367888:N664S	N	-	2	0	LRP4	46868172	1.000000	0.71417	0.979000	0.43373	0.906000	0.53458	6.139000	0.71728	2.308000	0.77769	0.533000	0.62120	AAT		PASS	0.532	LRP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391133.1	NM_002334		31	147	31	147	---	---	---	---
MYBPC3	4607	broad.mit.edu	37	11	47357557	47357557	+	Missense_Mutation	SNP	G	G	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr11:47357557G>T	ENST00000545968.1	-	26	2662	c.2608C>A	c.(2608-2610)Ccc>Acc	p.P870T	MYBPC3_ENST00000399249.2_Missense_Mutation_p.P870T|MYBPC3_ENST00000256993.4_Missense_Mutation_p.P869T	NM_000256.3	NP_000247.2	Q14896	MYPC3_HUMAN	myosin binding protein C, cardiac	870	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cardiac muscle contraction (GO:0060048)|cell adhesion (GO:0007155)|heart morphogenesis (GO:0003007)|muscle filament sliding (GO:0030049)|myosin filament assembly (GO:0031034)|positive regulation of ATPase activity (GO:0032781)|regulation of heart rate (GO:0002027)|regulation of muscle filament sliding (GO:0032971)|regulation of striated muscle contraction (GO:0006942)|sarcomere organization (GO:0045214)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	A band (GO:0031672)|C zone (GO:0014705)|cytosol (GO:0005829)|sarcomere (GO:0030017)|striated muscle myosin thick filament (GO:0005863)	ATPase activator activity (GO:0001671)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|myosin binding (GO:0017022)|myosin heavy chain binding (GO:0032036)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)	p.P870T(1)		breast(2)|central_nervous_system(2)|endometrium(9)|kidney(1)|large_intestine(4)|lung(16)|ovary(3)|prostate(3)|urinary_tract(2)	42				Lung(87;0.176)		GGTTCGCTGGGGGGACCTGGG	0.647																																						uc001nfa.3																			1	Substitution - Missense(1)		lung(1)	ovary(2)|central_nervous_system(1)	3						c.(2608-2610)CCC>ACC		myosin binding protein C, cardiac							14.0	16.0	15.0					11																	47357557		2007	4172	6179	SO:0001583	missense	4607				cardiac muscle contraction|cell adhesion|muscle filament sliding|regulation of muscle filament sliding|regulation of striated muscle contraction|ventricular cardiac muscle tissue morphogenesis	C zone|cytosol|striated muscle myosin thick filament	actin binding|ATPase activator activity|metal ion binding|myosin heavy chain binding|structural constituent of muscle|titin binding	g.chr11:47357557G>T	X84075	CCDS53621.1	11p11.2	2014-09-17	2001-11-28			ENSG00000134571		"""Myosin binding proteins"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	7551	protein-coding gene	gene with protein product		600958	"""myosin-binding protein C, cardiac"""	CMH4		7744002, 8358441	Standard	NM_000256		Approved	MYBP-C, FHC	uc021qis.1	Q14896		ENST00000545968.1:c.2608C>A	11.37:g.47357557G>T	ENSP00000442795:p.Pro870Thr					MYBPC3_uc010rhl.1_RNA	p.P870T	NM_000256	NP_000247	Q14896	MYPC3_HUMAN		Lung(87;0.176)	25	2663	-			869			Fibronectin type-III 2.		A5PL00|Q16410|Q6R2F7|Q9UE27|Q9UM53	Missense_Mutation	SNP	ENST00000545968.1	37	c.2608C>A	CCDS53621.1	.	.	.	.	.	.	.	.	.	.	G	6.335	0.429922	0.11987	.	.	ENSG00000134571	ENST00000545968;ENST00000399249;ENST00000256993	T;T;T	0.63096	-0.02;-0.02;-0.02	5.28	5.28	0.74379	Fibronectin, type III (3);Immunoglobulin-like fold (1);	.	.	.	.	T	0.46795	0.1411	L	0.32530	0.975	0.46981	D	0.999279	B	0.13594	0.008	B	0.14023	0.01	T	0.38802	-0.9644	9	0.02654	T	1	.	13.8415	0.63441	0.0:0.0:0.8471:0.1529	.	869	Q14896	MYPC3_HUMAN	T	870;870;869	ENSP00000442795:P870T;ENSP00000382193:P870T;ENSP00000256993:P869T	ENSP00000256993:P869T	P	-	1	0	MYBPC3	47314133	1.000000	0.71417	0.990000	0.47175	0.974000	0.67602	3.950000	0.56676	2.473000	0.83533	0.650000	0.86243	CCC		PASS	0.647	MYBPC3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000392271.3			9	12	9	12	---	---	---	---
MYBPC3	4607	broad.mit.edu	37	11	47361282	47361282	+	Missense_Mutation	SNP	C	C	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr11:47361282C>A	ENST00000545968.1	-	21	2041	c.1987G>T	c.(1987-1989)Gct>Tct	p.A663S	MYBPC3_ENST00000399249.2_Missense_Mutation_p.A663S|MYBPC3_ENST00000256993.4_Missense_Mutation_p.A662S	NM_000256.3	NP_000247.2	Q14896	MYPC3_HUMAN	myosin binding protein C, cardiac	663	Ig-like C2-type 5.				cardiac muscle contraction (GO:0060048)|cell adhesion (GO:0007155)|heart morphogenesis (GO:0003007)|muscle filament sliding (GO:0030049)|myosin filament assembly (GO:0031034)|positive regulation of ATPase activity (GO:0032781)|regulation of heart rate (GO:0002027)|regulation of muscle filament sliding (GO:0032971)|regulation of striated muscle contraction (GO:0006942)|sarcomere organization (GO:0045214)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	A band (GO:0031672)|C zone (GO:0014705)|cytosol (GO:0005829)|sarcomere (GO:0030017)|striated muscle myosin thick filament (GO:0005863)	ATPase activator activity (GO:0001671)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|myosin binding (GO:0017022)|myosin heavy chain binding (GO:0032036)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)	p.A663S(1)		breast(2)|central_nervous_system(2)|endometrium(9)|kidney(1)|large_intestine(4)|lung(16)|ovary(3)|prostate(3)|urinary_tract(2)	42				Lung(87;0.176)		TTATTTCCAGCTACAACCACA	0.552																																						uc001nfa.3																			1	Substitution - Missense(1)		lung(1)	ovary(2)|central_nervous_system(1)	3						c.(1987-1989)GCT>TCT		myosin binding protein C, cardiac							100.0	102.0	101.0					11																	47361282		1983	4150	6133	SO:0001583	missense	4607				cardiac muscle contraction|cell adhesion|muscle filament sliding|regulation of muscle filament sliding|regulation of striated muscle contraction|ventricular cardiac muscle tissue morphogenesis	C zone|cytosol|striated muscle myosin thick filament	actin binding|ATPase activator activity|metal ion binding|myosin heavy chain binding|structural constituent of muscle|titin binding	g.chr11:47361282C>A	X84075	CCDS53621.1	11p11.2	2014-09-17	2001-11-28			ENSG00000134571		"""Myosin binding proteins"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	7551	protein-coding gene	gene with protein product		600958	"""myosin-binding protein C, cardiac"""	CMH4		7744002, 8358441	Standard	NM_000256		Approved	MYBP-C, FHC	uc021qis.1	Q14896		ENST00000545968.1:c.1987G>T	11.37:g.47361282C>A	ENSP00000442795:p.Ala663Ser					MYBPC3_uc010rhl.1_RNA	p.A663S	NM_000256	NP_000247	Q14896	MYPC3_HUMAN		Lung(87;0.176)	20	2042	-			662			Ig-like C2-type 5.		A5PL00|Q16410|Q6R2F7|Q9UE27|Q9UM53	Missense_Mutation	SNP	ENST00000545968.1	37	c.1987G>T	CCDS53621.1	.	.	.	.	.	.	.	.	.	.	C	32	5.165365	0.94768	.	.	ENSG00000134571	ENST00000545968;ENST00000399249;ENST00000256993	T;T;T	0.67345	-0.26;-0.26;-0.26	4.9	4.9	0.64082	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	D	0.82893	0.5136	M	0.64676	1.99	0.80722	D	1	B	0.24963	0.115	P	0.57283	0.817	T	0.82904	-0.0226	9	0.87932	D	0	.	18.2591	0.90028	0.0:1.0:0.0:0.0	.	662	Q14896	MYPC3_HUMAN	S	663;663;662	ENSP00000442795:A663S;ENSP00000382193:A663S;ENSP00000256993:A662S	ENSP00000256993:A662S	A	-	1	0	MYBPC3	47317858	1.000000	0.71417	1.000000	0.80357	0.945000	0.59286	7.320000	0.79064	2.539000	0.85634	0.561000	0.74099	GCT		PASS	0.552	MYBPC3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000392271.3			3	62	3	62	---	---	---	---
RAPSN	5913	broad.mit.edu	37	11	47469657	47469657	+	Missense_Mutation	SNP	C	C	G			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr11:47469657C>G	ENST00000298854.2	-	2	451	c.238G>C	c.(238-240)Gac>Cac	p.D80H	RAPSN_ENST00000524487.1_Missense_Mutation_p.D80H|RAPSN_ENST00000529341.1_Missense_Mutation_p.D80H|RAPSN_ENST00000352508.3_Missense_Mutation_p.D80H	NM_005055.4	NP_005046.2	Q13702	RAPSN_HUMAN	receptor-associated protein of the synapse	80					positive regulation of neuron apoptotic process (GO:0043525)|synaptic transmission (GO:0007268)|synaptic transmission, cholinergic (GO:0007271)	cell junction (GO:0030054)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|neuromuscular junction (GO:0031594)|postsynaptic membrane (GO:0045211)	acetylcholine receptor binding (GO:0033130)|zinc ion binding (GO:0008270)	p.D80H(1)		endometrium(1)|large_intestine(3)|lung(6)|ovary(2)	12						AGGAGGAAGTCGGCATCCTCC	0.617																																						uc001nfi.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(238-240)GAC>CAC		43 kD receptor-associated protein of the synapse							76.0	60.0	66.0					11																	47469657		2201	4297	6498	SO:0001583	missense	5913				synaptic transmission, cholinergic	cell junction|cytoskeleton|postsynaptic membrane	acetylcholine receptor binding|zinc ion binding	g.chr11:47469657C>G		CCDS7936.1, CCDS7937.1	11p11.2	2009-04-28	2007-02-23		ENSG00000165917	ENSG00000165917		"""RING-type (C3HC4) zinc fingers"""	9863	protein-coding gene	gene with protein product	"""rapsyn"""	601592	"""receptor-associated protein of the synapse, 43kD"""			8812503	Standard	NM_005055		Approved	RNF205, CMS1D, CMS1E	uc001nfi.2	Q13702	OTTHUMG00000166891	ENST00000298854.2:c.238G>C	11.37:g.47469657C>G	ENSP00000298854:p.Asp80His					RAPSN_uc001nfj.1_Missense_Mutation_p.D80H|RAPSN_uc009yls.1_Missense_Mutation_p.D80H	p.D80H	NM_005055	NP_005046	Q13702	RAPSN_HUMAN			2	452	-			80					Q8TDF3|Q9BTD9	Missense_Mutation	SNP	ENST00000298854.2	37	c.238G>C	CCDS7936.1	.	.	.	.	.	.	.	.	.	.	C	15.98	2.993647	0.54041	.	.	ENSG00000165917	ENST00000298854;ENST00000352508;ENST00000524487;ENST00000529341	T;T;T;T	0.74209	-0.82;1.15;1.15;1.15	4.82	0.578	0.17391	Tetratricopeptide-like helical (1);Rapsyn, myristoylation/linker region, N-terminal (1);	0.154834	0.56097	D	0.000025	T	0.74261	0.3693	L	0.44542	1.39	0.51767	D	0.99993	P;B;P	0.41393	0.453;0.263;0.748	P;B;P	0.53450	0.589;0.32;0.726	T	0.69206	-0.5206	10	0.41790	T	0.15	-29.2838	10.7253	0.46064	0.0:0.7015:0.0:0.2985	.	80;80;80	E9PK11;Q13702-2;Q13702	.;.;RAPSN_HUMAN	H	80	ENSP00000298854:D80H;ENSP00000298853:D80H;ENSP00000435551:D80H;ENSP00000431732:D80H	ENSP00000298854:D80H	D	-	1	0	RAPSN	47426233	0.973000	0.33851	0.940000	0.37924	0.934000	0.57294	2.383000	0.44354	-0.082000	0.12640	-0.259000	0.10710	GAC		PASS	0.617	RAPSN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391726.1			13	69	13	69	---	---	---	---
AGBL2	79841	broad.mit.edu	37	11	47711888	47711888	+	Missense_Mutation	SNP	C	C	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr11:47711888C>A	ENST00000525123.1	-	10	1656	c.1371G>T	c.(1369-1371)ttG>ttT	p.L457F	AGBL2_ENST00000357610.3_Missense_Mutation_p.L457F|AGBL2_ENST00000529712.1_5'UTR|AGBL2_ENST00000528244.1_Missense_Mutation_p.L419F|AGBL2_ENST00000298861.4_Missense_Mutation_p.L457F	NM_024783.3	NP_079059.2	Q5U5Z8	CBPC2_HUMAN	ATP/GTP binding protein-like 2	457						cytosol (GO:0005829)	metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)	p.L457F(1)		NS(1)|endometrium(5)|kidney(1)|large_intestine(8)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(1)	34						CTCTGGCACTCAAGACCACAG	0.512																																						uc001ngg.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(1369-1371)TTG>TTT		carboxypeptidase 2, cytosolic							106.0	109.0	108.0					11																	47711888		2201	4298	6499	SO:0001583	missense	79841				proteolysis	cytosol	metallocarboxypeptidase activity|zinc ion binding	g.chr11:47711888C>A		CCDS7944.1	11p11.2	2014-06-23			ENSG00000165923	ENSG00000165923			26296	protein-coding gene	gene with protein product	"""cytoplasmic carboxypeptidase 2"""					12738998, 21303978	Standard	NM_024783		Approved	FLJ23598, CCP2	uc001ngg.3	Q5U5Z8	OTTHUMG00000165368	ENST00000525123.1:c.1371G>T	11.37:g.47711888C>A	ENSP00000435582:p.Leu457Phe					AGBL2_uc001ngf.2_RNA|AGBL2_uc010rhq.1_Missense_Mutation_p.L419F|AGBL2_uc001ngh.1_Missense_Mutation_p.L401F	p.L457F	NM_024783	NP_079059	Q5U5Z8	CBPC2_HUMAN			9	1471	-			457					A8MPX2|Q53FV5|Q8IV57|Q9H5C0	Missense_Mutation	SNP	ENST00000525123.1	37	c.1371G>T	CCDS7944.1	.	.	.	.	.	.	.	.	.	.	C	11.58	1.681873	0.29872	.	.	ENSG00000165923	ENST00000525123;ENST00000357610;ENST00000298861;ENST00000528244	T;T;T;T	0.34072	1.38;1.38;1.38;1.38	5.96	2.05	0.26809	Peptidase M14, carboxypeptidase A (1);	0.320593	0.31041	N	0.008380	T	0.34135	0.0887	L	0.60012	1.86	0.35546	D	0.803455	B;B;B	0.21452	0.045;0.056;0.027	B;B;B	0.32724	0.114;0.151;0.114	T	0.35674	-0.9779	10	0.62326	D	0.03	-9.0133	6.1184	0.20139	0.0:0.521:0.1383:0.3407	.	419;419;457	F6U0I4;B4DZS1;Q5U5Z8	.;.;CBPC2_HUMAN	F	457;457;457;419	ENSP00000435582:L457F;ENSP00000350228:L457F;ENSP00000298861:L457F;ENSP00000436630:L419F	ENSP00000298861:L457F	L	-	3	2	AGBL2	47668464	0.989000	0.36119	0.984000	0.44739	0.996000	0.88848	0.391000	0.20784	0.420000	0.25954	0.655000	0.94253	TTG		PASS	0.512	AGBL2-001	KNOWN	non_canonical_conserved|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000383726.2	NM_024783		111	155	111	155	---	---	---	---
FNBP4	23360	broad.mit.edu	37	11	47744565	47744565	+	Missense_Mutation	SNP	G	G	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr11:47744565G>A	ENST00000263773.5	-	15	2780	c.2768C>T	c.(2767-2769)cCa>cTa	p.P923L		NM_015308.2	NP_056123.2	Q8N3X1	FNBP4_HUMAN	formin binding protein 4	923	Pro-rich.					nucleus (GO:0005634)		p.P923L(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(12)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	44						TTCAGGTGGTGGCATTTTGGG	0.418																																						uc009ylv.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(2767-2769)CCA>CTA		formin binding protein 4							11.0	10.0	10.0					11																	47744565		1920	4102	6022	SO:0001583	missense	23360							g.chr11:47744565G>A	BC037404	CCDS41644.1	11q12.1	2008-02-05			ENSG00000109920	ENSG00000109920			19752	protein-coding gene	gene with protein product		615265				10231032	Standard	NM_015308		Approved	KIAA1014	uc009ylv.3	Q8N3X1	OTTHUMG00000166533	ENST00000263773.5:c.2768C>T	11.37:g.47744565G>A	ENSP00000263773:p.Pro923Leu					FNBP4_uc001ngi.2_Missense_Mutation_p.P237L|FNBP4_uc001ngj.2_Missense_Mutation_p.P830L	p.P923L	NM_015308	NP_056123	Q8N3X1	FNBP4_HUMAN			15	2921	-			923			Pro-rich.		Q9H985|Q9NT81|Q9Y2L7	Missense_Mutation	SNP	ENST00000263773.5	37	c.2768C>T	CCDS41644.1	.	.	.	.	.	.	.	.	.	.	G	13.16	2.154258	0.38021	.	.	ENSG00000109920	ENST00000263773	T	0.34859	1.34	5.27	4.36	0.52297	.	0.059831	0.64402	N	0.000002	T	0.31796	0.0808	L	0.54323	1.7	0.80722	D	1	B	0.20052	0.041	B	0.17722	0.019	T	0.08146	-1.0736	10	0.17369	T	0.5	-11.6633	11.961	0.53009	0.0801:0.0:0.9199:0.0	.	923	Q8N3X1	FNBP4_HUMAN	L	923	ENSP00000263773:P923L	ENSP00000263773:P923L	P	-	2	0	FNBP4	47701141	0.993000	0.37304	0.905000	0.35620	0.927000	0.56198	1.152000	0.31663	1.231000	0.43661	0.555000	0.69702	CCA		PASS	0.418	FNBP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390237.3			4	6	4	6	---	---	---	---
OR4P4	81300	broad.mit.edu	37	11	55405873	55405873	+	Missense_Mutation	SNP	G	G	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr11:55405873G>T	ENST00000314612.2	+	1	40	c.40G>T	c.(40-42)Ggg>Tgg	p.G14W		NM_001004124.1	NP_001004124.1	Q8NGL7	OR4P4_HUMAN	olfactory receptor, family 4, subfamily P, member 4	14						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.G14W(1)		autonomic_ganglia(1)|central_nervous_system(1)|kidney(4)|large_intestine(4)|lung(28)|ovary(1)|upper_aerodigestive_tract(1)	40						TATTCTCTTGGGGTTTTCCCA	0.313																																						uc010rij.1																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1						c.(40-42)GGG>TGG		olfactory receptor, family 4, subfamily P,							115.0	111.0	112.0					11																	55405873		2182	4026	6208	SO:0001583	missense	81300				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55405873G>T	AB065775	CCDS31504.1	11q11	2012-08-09			ENSG00000181927	ENSG00000181927		"""GPCR / Class A : Olfactory receptors"""	15180	protein-coding gene	gene with protein product				OR4P3P			Standard	NM_001004124		Approved		uc010rij.2	Q8NGL7	OTTHUMG00000165300	ENST00000314612.2:c.40G>T	11.37:g.55405873G>T	ENSP00000324831:p.Gly14Trp						p.G14W	NM_001004124	NP_001004124	Q8NGL7	OR4P4_HUMAN			1	40	+			14			Extracellular (Potential).			Missense_Mutation	SNP	ENST00000314612.2	37	c.40G>T	CCDS31504.1	.	.	.	.	.	.	.	.	.	.	G	13.42	2.233090	0.39498	.	.	ENSG00000181927	ENST00000314612	T	0.00662	5.93	5.02	5.02	0.67125	.	0.000000	0.40222	N	0.001157	T	0.07503	0.0189	M	0.93462	3.42	0.31268	N	0.692036	D	0.89917	1.0	D	0.91635	0.999	T	0.01557	-1.1325	10	0.87932	D	0	-6.8351	17.1068	0.86665	0.0:0.0:1.0:0.0	.	14	Q8NGL7	OR4P4_HUMAN	W	14	ENSP00000324831:G14W	ENSP00000324831:G14W	G	+	1	0	OR4P4	55162449	1.000000	0.71417	0.711000	0.30485	0.062000	0.15995	4.582000	0.60957	2.356000	0.79943	0.626000	0.83405	GGG		PASS	0.313	OR4P4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383356.1	NM_001004124		123	70	123	70	---	---	---	---
OR5D13	390142	broad.mit.edu	37	11	55541387	55541387	+	Silent	SNP	C	C	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr11:55541387C>A	ENST00000361760.1	+	1	474	c.474C>A	c.(472-474)tcC>tcA	p.S158S		NM_001001967.1	NP_001001967.1	Q8NGL4	OR5DD_HUMAN	olfactory receptor, family 5, subfamily D, member 13	158						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.S158S(2)		breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(1)|lung(20)|ovary(1)|pancreas(2)|skin(2)|stomach(1)|urinary_tract(1)	40		all_epithelial(135;0.196)				TAGTGTGCTCCCTGATACTCA	0.408																																						uc010ril.1																			2	Substitution - coding silent(2)		lung(2)	ovary(1)|pancreas(1)|skin(1)	3						c.(472-474)TCC>TCA		olfactory receptor, family 5, subfamily D,							178.0	175.0	176.0					11																	55541387		2200	4296	6496	SO:0001819	synonymous_variant	390142				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55541387C>A	BK004394	CCDS31507.1	11q11	2012-08-09			ENSG00000198877	ENSG00000198877		"""GPCR / Class A : Olfactory receptors"""	15280	protein-coding gene	gene with protein product							Standard	NM_001001967		Approved		uc010ril.2	Q8NGL4	OTTHUMG00000166807	ENST00000361760.1:c.474C>A	11.37:g.55541387C>A							p.S158S	NM_001001967	NP_001001967	Q8NGL4	OR5DD_HUMAN			1	474	+		all_epithelial(135;0.196)	158			Helical; Name=4; (Potential).		Q6IF68|Q6IFC9	Silent	SNP	ENST00000361760.1	37	c.474C>A	CCDS31507.1																																																																																				PASS	0.408	OR5D13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391511.1	NM_001001967		112	164	112	164	---	---	---	---
OR5D16	390144	broad.mit.edu	37	11	55607085	55607085	+	Missense_Mutation	SNP	G	G	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr11:55607085G>T	ENST00000378396.1	+	1	858	c.858G>T	c.(856-858)ttG>ttT	p.L286F		NM_001005496.1	NP_001005496.1	Q8NGK9	OR5DG_HUMAN	olfactory receptor, family 5, subfamily D, member 16	286						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.L286F(1)		cervix(1)|endometrium(2)|large_intestine(4)|lung(26)|ovary(5)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	44		all_epithelial(135;0.208)				TGATCCCCTTGTTGAATCCCC	0.408																																						uc010rio.1																			1	Substitution - Missense(1)		lung(1)	ovary(4)|skin(1)	5						c.(856-858)TTG>TTT		olfactory receptor, family 5, subfamily D,							64.0	62.0	62.0					11																	55607085		2201	4296	6497	SO:0001583	missense	390144				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55607085G>T	AB065783	CCDS31512.1	11q11	2012-08-09			ENSG00000205029	ENSG00000205029		"""GPCR / Class A : Olfactory receptors"""	15283	protein-coding gene	gene with protein product							Standard	NM_001005496		Approved		uc010rio.2	Q8NGK9	OTTHUMG00000154233	ENST00000378396.1:c.858G>T	11.37:g.55607085G>T	ENSP00000367649:p.Leu286Phe						p.L286F	NM_001005496	NP_001005496	Q8NGK9	OR5DG_HUMAN			1	858	+		all_epithelial(135;0.208)	286			Helical; Name=7; (Potential).		Q6IF65|Q96RB4	Missense_Mutation	SNP	ENST00000378396.1	37	c.858G>T	CCDS31512.1	.	.	.	.	.	.	.	.	.	.	.	6.707	0.499186	0.12762	.	.	ENSG00000205029	ENST00000378396	T	0.37915	1.17	4.27	3.35	0.38373	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.27765	0.0683	N	0.16478	0.41	0.19300	N	0.99998	B	0.30914	0.3	B	0.40940	0.344	T	0.32079	-0.9920	9	0.87932	D	0	-46.0253	5.5739	0.17212	0.1052:0.0:0.6996:0.1951	.	286	Q8NGK9	OR5DG_HUMAN	F	286	ENSP00000367649:L286F	ENSP00000367649:L286F	L	+	3	2	OR5D16	55363661	0.000000	0.05858	0.101000	0.21167	0.007000	0.05969	0.227000	0.17795	0.941000	0.37499	0.537000	0.68136	TTG		PASS	0.408	OR5D16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334506.1	NM_001005496		43	47	43	47	---	---	---	---
OR5F1	338674	broad.mit.edu	37	11	55761264	55761264	+	Missense_Mutation	SNP	C	C	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr11:55761264C>A	ENST00000278409.1	-	1	837	c.838G>T	c.(838-840)Gtg>Ttg	p.V280L		NM_003697.1	NP_003688.1	O95221	OR5F1_HUMAN	olfactory receptor, family 5, subfamily F, member 1	280					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.V280L(1)		endometrium(6)|kidney(1)|large_intestine(11)|liver(1)|lung(33)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	58	Esophageal squamous(21;0.00448)					GGAATCACCACTGTGTAGAAC	0.443																																						uc010riv.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|pancreas(1)	2						c.(838-840)GTG>TTG		olfactory receptor, family 5, subfamily F,							80.0	80.0	80.0					11																	55761264		2201	4296	6497	SO:0001583	missense	338674				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55761264C>A	AF065863	CCDS31515.1	11q11	2012-08-09			ENSG00000149133	ENSG00000149133		"""GPCR / Class A : Olfactory receptors"""	8343	protein-coding gene	gene with protein product		608492				9787077	Standard	NM_003697		Approved	OR11-10	uc010riv.2	O95221	OTTHUMG00000166825	ENST00000278409.1:c.838G>T	11.37:g.55761264C>A	ENSP00000278409:p.Val280Leu						p.V280L	NM_003697	NP_003688	O95221	OR5F1_HUMAN			1	838	-	Esophageal squamous(21;0.00448)		280			Helical; Name=7; (Potential).		Q495D1|Q6IFB9	Missense_Mutation	SNP	ENST00000278409.1	37	c.838G>T	CCDS31515.1	.	.	.	.	.	.	.	.	.	.	C	0.954	-0.705495	0.03255	.	.	ENSG00000149133	ENST00000278409	T	0.00279	8.33	2.99	0.371	0.16168	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.00210	0.0006	L	0.47078	1.49	0.09310	N	1	B	0.30914	0.3	B	0.36989	0.238	T	0.09314	-1.0680	9	0.22109	T	0.4	.	7.5632	0.27864	0.0:0.6766:0.0:0.3234	.	280	O95221	OR5F1_HUMAN	L	280	ENSP00000278409:V280L	ENSP00000278409:V280L	V	-	1	0	OR5F1	55517840	0.000000	0.05858	0.833000	0.33012	0.048000	0.14542	-1.672000	0.01952	0.387000	0.25024	0.289000	0.19496	GTG		PASS	0.443	OR5F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391532.1	NM_003697		48	73	48	73	---	---	---	---
OR5F1	338674	broad.mit.edu	37	11	55761943	55761943	+	Silent	SNP	G	G	C			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr11:55761943G>C	ENST00000278409.1	-	1	158	c.159C>G	c.(157-159)tcC>tcG	p.S53S		NM_003697.1	NP_003688.1	O95221	OR5F1_HUMAN	olfactory receptor, family 5, subfamily F, member 1	53					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.S53S(1)		endometrium(6)|kidney(1)|large_intestine(11)|liver(1)|lung(33)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	58	Esophageal squamous(21;0.00448)					TGTGAAGCTGGGAATCGATCC	0.418																																						uc010riv.1																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|pancreas(1)	2						c.(157-159)TCC>TCG		olfactory receptor, family 5, subfamily F,							60.0	56.0	58.0					11																	55761943		2201	4296	6497	SO:0001819	synonymous_variant	338674				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55761943G>C	AF065863	CCDS31515.1	11q11	2012-08-09			ENSG00000149133	ENSG00000149133		"""GPCR / Class A : Olfactory receptors"""	8343	protein-coding gene	gene with protein product		608492				9787077	Standard	NM_003697		Approved	OR11-10	uc010riv.2	O95221	OTTHUMG00000166825	ENST00000278409.1:c.159C>G	11.37:g.55761943G>C							p.S53S	NM_003697	NP_003688	O95221	OR5F1_HUMAN			1	159	-	Esophageal squamous(21;0.00448)		53			Cytoplasmic (Potential).		Q495D1|Q6IFB9	Silent	SNP	ENST00000278409.1	37	c.159C>G	CCDS31515.1																																																																																				PASS	0.418	OR5F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391532.1	NM_003697		32	34	32	34	---	---	---	---
OR5AS1	219447	broad.mit.edu	37	11	55798057	55798057	+	Missense_Mutation	SNP	C	C	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr11:55798057C>A	ENST00000313555.1	+	1	163	c.163C>A	c.(163-165)Ctt>Att	p.L55I		NM_001001921.1	NP_001001921.1	Q8N127	O5AS1_HUMAN	olfactory receptor, family 5, subfamily AS, member 1	55						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.L55I(1)		endometrium(7)|large_intestine(7)|liver(1)|lung(22)|ovary(3)|prostate(4)|skin(3)|stomach(1)	48	Esophageal squamous(21;0.00693)					TAATTCAAGCCTTCAAATTCC	0.343																																						uc010riw.1																			1	Substitution - Missense(1)		lung(1)	ovary(3)|liver(1)|skin(1)	5						c.(163-165)CTT>ATT		olfactory receptor, family 5, subfamily AS,							53.0	57.0	56.0					11																	55798057		2201	4296	6497	SO:0001583	missense	219447				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55798057C>A	AB065543	CCDS31516.1	11q11	2012-08-09			ENSG00000181785	ENSG00000181785		"""GPCR / Class A : Olfactory receptors"""	15261	protein-coding gene	gene with protein product							Standard	NM_001001921		Approved		uc010riw.2	Q8N127	OTTHUMG00000166830	ENST00000313555.1:c.163C>A	11.37:g.55798057C>A	ENSP00000324111:p.Leu55Ile						p.L55I	NM_001001921	NP_001001921	Q8N127	O5AS1_HUMAN			1	163	+	Esophageal squamous(21;0.00693)		55			Helical; Name=2; (Potential).		Q6IFB8	Missense_Mutation	SNP	ENST00000313555.1	37	c.163C>A	CCDS31516.1	.	.	.	.	.	.	.	.	.	.	C	14.64	2.594847	0.46318	.	.	ENSG00000181785	ENST00000313555	T	0.13778	2.56	5.65	3.8	0.43715	GPCR, rhodopsin-like superfamily (1);	0.269957	0.19631	U	0.109671	T	0.39655	0.1086	H	0.94264	3.515	0.28842	N	0.896568	D	0.64830	0.994	P	0.54706	0.759	T	0.51474	-0.8701	10	0.87932	D	0	.	11.1501	0.48453	0.0:0.849:0.0:0.151	.	55	Q8N127	O5AS1_HUMAN	I	55	ENSP00000324111:L55I	ENSP00000324111:L55I	L	+	1	0	OR5AS1	55554633	0.966000	0.33281	0.201000	0.23476	0.172000	0.22775	2.313000	0.43735	0.753000	0.32945	-0.148000	0.13756	CTT		PASS	0.343	OR5AS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391538.1	NM_001001921		18	100	18	100	---	---	---	---
OR8J3	81168	broad.mit.edu	37	11	55904716	55904716	+	Missense_Mutation	SNP	G	G	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr11:55904716G>A	ENST00000301529.1	-	1	478	c.479C>T	c.(478-480)tCa>tTa	p.S160L		NM_001004064.1	NP_001004064.1	Q8NGG0	OR8J3_HUMAN	olfactory receptor, family 8, subfamily J, member 3	160						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.S160L(2)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(1)|lung(38)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	59	Esophageal squamous(21;0.00693)					TATACAAGGTGAAACCACAAT	0.428																																						uc010riz.1																			2	Substitution - Missense(2)		lung(2)	skin(2)	2						c.(478-480)TCA>TTA		olfactory receptor, family 8, subfamily J,							93.0	91.0	91.0					11																	55904716		2201	4296	6497	SO:0001583	missense	81168				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55904716G>A		CCDS31520.1	11q12.2	2012-08-09			ENSG00000167822	ENSG00000167822		"""GPCR / Class A : Olfactory receptors"""	15312	protein-coding gene	gene with protein product							Standard	NM_001004064		Approved		uc010riz.2	Q8NGG0	OTTHUMG00000166834	ENST00000301529.1:c.479C>T	11.37:g.55904716G>A	ENSP00000301529:p.Ser160Leu						p.S160L	NM_001004064	NP_001004064	Q8NGG0	OR8J3_HUMAN			1	479	-	Esophageal squamous(21;0.00693)		160			Helical; Name=4; (Potential).		Q6IFB6|Q96RC2	Missense_Mutation	SNP	ENST00000301529.1	37	c.479C>T	CCDS31520.1	.	.	.	.	.	.	.	.	.	.	G	19.32	3.805292	0.70682	.	.	ENSG00000167822	ENST00000301529	T	0.00051	8.81	3.26	3.26	0.37387	GPCR, rhodopsin-like superfamily (1);	0.245457	0.29046	N	0.013304	T	0.00210	0.0006	L	0.31157	0.91	0.09310	N	1	P	0.39216	0.664	P	0.51516	0.672	T	0.47459	-0.9116	10	0.87932	D	0	.	9.9828	0.41824	0.0:0.0:0.797:0.203	.	160	Q8NGG0	OR8J3_HUMAN	L	160	ENSP00000301529:S160L	ENSP00000301529:S160L	S	-	2	0	OR8J3	55661292	0.001000	0.12720	0.002000	0.10522	0.824000	0.46624	1.087000	0.30865	1.548000	0.49413	0.289000	0.19496	TCA		PASS	0.428	OR8J3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391542.1	NM_001004064		28	109	28	109	---	---	---	---
OR5T1	390155	broad.mit.edu	37	11	56043850	56043850	+	Missense_Mutation	SNP	A	A	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr11:56043850A>T	ENST00000313033.2	+	1	822	c.736A>T	c.(736-738)Agg>Tgg	p.R246W		NM_001004745.1	NP_001004745.1	Q8NG75	OR5T1_HUMAN	olfactory receptor, family 5, subfamily T, member 1	246						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.R246W(1)		NS(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(27)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	43	Esophageal squamous(21;0.00448)					TGCTGAAGGGAGGAGAAAAGT	0.438																																						uc001nio.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)|pancreas(1)	3						c.(736-738)AGG>TGG		olfactory receptor, family 5, subfamily T,							231.0	205.0	214.0					11																	56043850		2201	4296	6497	SO:0001583	missense	390155				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:56043850A>T	AB065962	CCDS31525.1	11q11	2012-08-09		2004-03-10	ENSG00000181698	ENSG00000181698		"""GPCR / Class A : Olfactory receptors"""	14821	protein-coding gene	gene with protein product				OR5T1P			Standard	NM_001004745		Approved		uc001nio.1	Q8NG75	OTTHUMG00000166853	ENST00000313033.2:c.736A>T	11.37:g.56043850A>T	ENSP00000323612:p.Arg246Trp						p.R246W	NM_001004745	NP_001004745	Q8NG75	OR5T1_HUMAN			1	736	+	Esophageal squamous(21;0.00448)		246			Cytoplasmic (Potential).		B2RNM9	Missense_Mutation	SNP	ENST00000313033.2	37	c.736A>T	CCDS31525.1	.	.	.	.	.	.	.	.	.	.	A	9.925	1.213284	0.22289	.	.	ENSG00000181698	ENST00000313033	T	0.00335	8.06	3.24	0.761	0.18448	GPCR, rhodopsin-like superfamily (1);	0.121046	0.36338	N	0.002648	T	0.00384	0.0012	M	0.85197	2.74	0.09310	N	1	B	0.28378	0.209	B	0.38954	0.286	T	0.46034	-0.9220	10	0.87932	D	0	.	1.6898	0.02849	0.5608:0.1705:0.103:0.1657	.	246	Q8NG75	OR5T1_HUMAN	W	246	ENSP00000323612:R246W	ENSP00000323612:R246W	R	+	1	2	OR5T1	55800426	0.000000	0.05858	0.005000	0.12908	0.142000	0.21351	0.092000	0.15066	0.038000	0.15604	0.381000	0.24937	AGG		PASS	0.438	OR5T1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391600.1	NM_001004745		65	234	65	234	---	---	---	---
OR8H1	219469	broad.mit.edu	37	11	56057656	56057656	+	Nonsense_Mutation	SNP	C	C	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr11:56057656C>A	ENST00000313022.2	-	1	910	c.883G>T	c.(883-885)Gaa>Taa	p.E295*		NM_001005199.1	NP_001005199.1	Q8NGG4	OR8H1_HUMAN	olfactory receptor, family 8, subfamily H, member 1	295						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.E295*(1)		NS(2)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Esophageal squamous(21;0.00448)					TTTTTAACTTCTTTGTTTCTA	0.343																																						uc010rje.1																			1	Substitution - Nonsense(1)		lung(1)	ovary(1)|pancreas(1)|skin(1)	3						c.(883-885)GAA>TAA		olfactory receptor, family 8, subfamily H,							91.0	103.0	99.0					11																	56057656		2201	4296	6497	SO:0001587	stop_gained	219469				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:56057656C>A	AB065836	CCDS31526.1	11q11	2012-08-09			ENSG00000181693	ENSG00000181693		"""GPCR / Class A : Olfactory receptors"""	14824	protein-coding gene	gene with protein product							Standard	NM_001005199		Approved		uc010rje.2	Q8NGG4	OTTHUMG00000162671	ENST00000313022.2:c.883G>T	11.37:g.56057656C>A	ENSP00000323595:p.Glu295*						p.E295*	NM_001005199	NP_001005199	Q8NGG4	OR8H1_HUMAN			1	883	-	Esophageal squamous(21;0.00448)		295			Cytoplasmic (Potential).		B2RNI7|Q6IFC5	Nonsense_Mutation	SNP	ENST00000313022.2	37	c.883G>T	CCDS31526.1	.	.	.	.	.	.	.	.	.	.	C	8.974	0.973754	0.18736	.	.	ENSG00000181693	ENST00000313022;ENST00000395186	.	.	.	3.62	2.68	0.31781	.	0.000000	0.53938	D	0.000046	.	.	.	.	.	.	0.53005	D	0.999968	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	12.4441	0.55641	0.17:0.83:0.0:0.0	.	.	.	.	X	295;291	.	ENSP00000323595:E295X	E	-	1	0	OR8H1	55814232	0.994000	0.37717	0.997000	0.53966	0.009000	0.06853	3.191000	0.50981	0.785000	0.33685	-0.343000	0.07986	GAA		PASS	0.343	OR8H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370019.1	NM_001005199		96	145	96	145	---	---	---	---
OR5AP2	338675	broad.mit.edu	37	11	56409760	56409760	+	Silent	SNP	A	A	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr11:56409760A>T	ENST00000302981.1	-	1	155	c.156T>A	c.(154-156)atT>atA	p.I52I	OR5AP2_ENST00000544374.1_Silent_p.I53I	NM_001002925.1	NP_001002925.1	Q8NGF4	O5AP2_HUMAN	olfactory receptor, family 5, subfamily AP, member 2	52						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.I52I(1)		breast(2)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(5)|liver(1)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	29						TAATCAATACAATCATCCCCA	0.428																																						uc001njb.1																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|kidney(1)|central_nervous_system(1)|skin(1)	4						c.(154-156)ATT>ATA		olfactory receptor, family 5, subfamily AP,							102.0	93.0	96.0					11																	56409760		2201	4296	6497	SO:0001819	synonymous_variant	338675				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:56409760A>T	AB065854	CCDS31534.1	11q11	2012-08-09			ENSG00000172464	ENSG00000172464		"""GPCR / Class A : Olfactory receptors"""	15258	protein-coding gene	gene with protein product							Standard	NM_001002925		Approved		uc001njb.1	Q8NGF4	OTTHUMG00000166865	ENST00000302981.1:c.156T>A	11.37:g.56409760A>T							p.I52I	NM_001002925	NP_001002925	Q8NGF4	O5AP2_HUMAN			1	156	-			52			Helical; Name=1; (Potential).		B2RNM8	Silent	SNP	ENST00000302981.1	37	c.156T>A	CCDS31534.1																																																																																				PASS	0.428	OR5AP2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000391613.1	NM_001002925		17	113	17	113	---	---	---	---
OR9G1	390174	broad.mit.edu	37	11	56468339	56468339	+	Missense_Mutation	SNP	C	C	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr11:56468339C>A	ENST00000312153.1	+	1	476	c.476C>A	c.(475-477)aCc>aAc	p.T159N		NM_001005213.1	NP_001005213.1	Q8NH87	OR9G1_HUMAN	olfactory receptor, family 9, subfamily G, member 1	159						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.T159N(1)		breast(2)|kidney(1)|lung(25)|stomach(2)|upper_aerodigestive_tract(1)	31						TCAATCATCACCAAGAAAACG	0.463																																						uc010rjn.1																			1	Substitution - Missense(1)		lung(1)		0						c.(475-477)ACC>AAC		olfactory receptor, family 9, subfamily G,							179.0	170.0	173.0					11																	56468339		2201	4296	6497	SO:0001583	missense	504191				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:56468339C>A	AB065500	CCDS31536.1	11q11	2012-08-09			ENSG00000174914	ENSG00000174914		"""GPCR / Class A : Olfactory receptors"""	15319	protein-coding gene	gene with protein product				OR9G5			Standard	NM_001005213		Approved			Q8NH87	OTTHUMG00000167112	ENST00000312153.1:c.476C>A	11.37:g.56468339C>A	ENSP00000309012:p.Thr159Asn						p.T159N	NM_001013358	NP_001013376	P0C7N8	OR9G9_HUMAN			1	476	+			159			Helical; Name=4; (Potential).		Q6IEU9|Q8NGQ0	Missense_Mutation	SNP	ENST00000312153.1	37	c.476C>A	CCDS31536.1	.	.	.	.	.	.	.	.	.	.	C	10.87	1.474063	0.26423	.	.	ENSG00000174914	ENST00000312153	T	0.00274	8.35	4.52	2.64	0.31445	GPCR, rhodopsin-like superfamily (1);	0.000000	0.56097	D	0.000032	T	0.00608	0.0020	M	0.82923	2.615	0.09310	N	1	D	0.67145	0.996	D	0.79784	0.993	T	0.34825	-0.9813	10	0.72032	D	0.01	-35.8191	9.035	0.36282	0.0:0.8239:0.0:0.1761	.	159	Q8NH87	OR9G1_HUMAN	N	159	ENSP00000309012:T159N	ENSP00000309012:T159N	T	+	2	0	OR9G1	56224915	0.000000	0.05858	0.035000	0.18076	0.266000	0.26442	0.760000	0.26475	0.624000	0.30286	0.573000	0.79308	ACC		PASS	0.463	OR9G1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393253.1	NM_001005213		25	221	25	221	---	---	---	---
APLNR	187	broad.mit.edu	37	11	57003959	57003959	+	Nonsense_Mutation	SNP	C	C	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr11:57003959C>A	ENST00000606794.1	-	1	716	c.520G>T	c.(520-522)Gag>Tag	p.E174*		NM_005161.4	NP_005152.1	P35414	APJ_HUMAN	apelin receptor	174					G-protein coupled receptor signaling pathway (GO:0007186)|gastrulation (GO:0007369)|heart development (GO:0007507)|regulation of body fluid levels (GO:0050878)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|receptor activity (GO:0004872)	p.E174*(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	32						GTGGTGTTCTCCAAGTCCCCG	0.647																																						uc001njo.2																			1	Substitution - Nonsense(1)		lung(1)	lung(5)|ovary(1)	6						c.(520-522)GAG>TAG		apelin receptor							91.0	76.0	81.0					11																	57003959		2200	4290	6490	SO:0001587	stop_gained	187					integral to plasma membrane	G-protein coupled receptor activity	g.chr11:57003959C>A	U03642	CCDS7950.1	11q12.1	2012-08-08	2008-05-12	2008-05-12	ENSG00000134817	ENSG00000134817			339	protein-coding gene	gene with protein product	"""APJ (apelin) receptor"""	600052	"""angiotensin II receptor-like 1"""	AGTRL1		8294032, 14622440	Standard	NM_005161		Approved	FLJ90771, APJ, APJR	uc001njo.3	P35414	OTTHUMG00000167021	ENST00000606794.1:c.520G>T	11.37:g.57003959C>A	ENSP00000475344:p.Glu174*					APLNR_uc001njn.3_RNA	p.E174*	NM_005161	NP_005152	P35414	APJ_HUMAN			1	969	-			174			Extracellular (Potential).			Nonsense_Mutation	SNP	ENST00000606794.1	37	c.520G>T	CCDS7950.1	.	.	.	.	.	.	.	.	.	.	C	33	5.250232	0.95305	.	.	ENSG00000134817	ENST00000257254;ENST00000326830;ENST00000444275	.	.	.	5.25	5.25	0.73442	.	1.083110	0.07035	N	0.829086	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.22109	T	0.4	-11.1901	12.866	0.57939	0.0:0.9205:0.0:0.0795	.	.	.	.	X	174;55;93	.	ENSP00000257254:E174X	E	-	1	0	APLNR	56760535	0.989000	0.36119	0.099000	0.21106	0.960000	0.62799	2.960000	0.49161	2.448000	0.82819	0.555000	0.69702	GAG		PASS	0.647	APLNR-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000470575.1	NM_005161		20	40	20	40	---	---	---	---
SSRP1	6749	broad.mit.edu	37	11	57099251	57099251	+	Missense_Mutation	SNP	C	C	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr11:57099251C>A	ENST00000278412.2	-	9	1380	c.1114G>T	c.(1114-1116)Gat>Tat	p.D372Y	snoU13_ENST00000459327.1_RNA	NM_003146.2	NP_003137.1	Q08945	SSRP1_HUMAN	structure specific recognition protein 1	372					DNA repair (GO:0006281)|DNA replication (GO:0006260)|gene expression (GO:0010467)|positive regulation of viral transcription (GO:0050434)|regulation of transcription, DNA-templated (GO:0006355)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)	p.D372Y(1)		breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(6)|ovary(2)|prostate(4)	23						GAGATCTCATCGAAGCGGATG	0.517																																					Colon(89;1000 1340 6884 23013 41819)	uc001njt.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(1114-1116)GAT>TAT		structure specific recognition protein 1							128.0	123.0	125.0					11																	57099251		2201	4296	6497	SO:0001583	missense	6749				DNA repair|DNA replication|positive regulation of viral transcription|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|viral reproduction	chromosome|cytoplasm|nucleoplasm	DNA binding|protein binding	g.chr11:57099251C>A	M86737	CCDS7952.1	11q12	2008-02-05			ENSG00000149136	ENSG00000149136			11327	protein-coding gene	gene with protein product	"""facilitates chromatin remodeling 80 kDa subunit"""	604328				1372440	Standard	NM_003146		Approved	FACT80	uc001njt.3	Q08945	OTTHUMG00000167024	ENST00000278412.2:c.1114G>T	11.37:g.57099251C>A	ENSP00000278412:p.Asp372Tyr						p.D372Y	NM_003146	NP_003137	Q08945	SSRP1_HUMAN			9	1381	-			372					Q5BJG8	Missense_Mutation	SNP	ENST00000278412.2	37	c.1114G>T	CCDS7952.1	.	.	.	.	.	.	.	.	.	.	C	22.0	4.224111	0.79576	.	.	ENSG00000149136	ENST00000278412	T	0.50548	0.74	5.65	5.65	0.86999	.	0.050782	0.85682	D	0.000000	T	0.69708	0.3141	M	0.81112	2.525	0.80722	D	1	D	0.53745	0.962	P	0.60117	0.869	T	0.72124	-0.4385	10	0.87932	D	0	.	19.5069	0.95121	0.0:1.0:0.0:0.0	.	372	Q08945	SSRP1_HUMAN	Y	372	ENSP00000278412:D372Y	ENSP00000278412:D372Y	D	-	1	0	SSRP1	56855827	1.000000	0.71417	0.573000	0.28510	0.634000	0.38068	7.239000	0.78182	2.941000	0.99782	0.655000	0.94253	GAT		PASS	0.517	SSRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392460.1	NM_003146		28	33	28	33	---	---	---	---
OR10Q1	219960	broad.mit.edu	37	11	57995616	57995616	+	Silent	SNP	G	G	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr11:57995616G>T	ENST00000316770.2	-	1	774	c.732C>A	c.(730-732)tcC>tcA	p.S244S		NM_001004471.2	NP_001004471.1	Q8NGQ4	O10Q1_HUMAN	olfactory receptor, family 10, subfamily Q, member 1	244						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.S244S(1)		autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(26)|ovary(2)	35		Breast(21;0.0589)				AGGAGCAGGTGGAGAAGGCCC	0.632																																						uc010rkd.1																			1	Substitution - coding silent(1)		lung(1)	ovary(2)	2						c.(730-732)TCC>TCA		olfactory receptor, family 10, subfamily Q,							64.0	59.0	61.0					11																	57995616		2201	4295	6496	SO:0001819	synonymous_variant	219960				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:57995616G>T	AB065735	CCDS31547.1	11q12.1	2012-08-09			ENSG00000180475	ENSG00000180475		"""GPCR / Class A : Olfactory receptors"""	15134	protein-coding gene	gene with protein product							Standard	NM_001004471		Approved		uc010rkd.2	Q8NGQ4	OTTHUMG00000167542	ENST00000316770.2:c.732C>A	11.37:g.57995616G>T							p.S244S	NM_001004471	NP_001004471	Q8NGQ4	O10Q1_HUMAN			1	732	-		Breast(21;0.0589)	244			Helical; Name=6; (Potential).		Q6IFG4	Silent	SNP	ENST00000316770.2	37	c.732C>A	CCDS31547.1																																																																																				PASS	0.632	OR10Q1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394706.1	NM_001004471		34	29	34	29	---	---	---	---
FAM111B	374393	broad.mit.edu	37	11	58892264	58892264	+	Silent	SNP	C	C	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr11:58892264C>A	ENST00000343597.3	+	4	885	c.694C>A	c.(694-696)Cgg>Agg	p.R232R	FAM111B_ENST00000411426.1_Silent_p.R202R|FAM111B_ENST00000529618.1_Silent_p.R202R	NM_198947.3	NP_945185.1	Q6SJ93	F111B_HUMAN	family with sequence similarity 111, member B	232							catalytic activity (GO:0003824)	p.R232R(1)		endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|liver(1)|lung(12)|ovary(3)|pancreas(1)|skin(1)	40						TGGCCGTTTTCGGTCTGACAT	0.373																																						uc001nnl.2																			1	Substitution - coding silent(1)		lung(1)	ovary(2)	2						c.(694-696)CGG>AGG		hypothetical protein LOC374393 isoform a							83.0	82.0	82.0					11																	58892264		2201	4295	6496	SO:0001819	synonymous_variant	374393						catalytic activity	g.chr11:58892264C>A	BC062456	CCDS7972.1, CCDS44611.1	11q12.1	2014-03-13			ENSG00000189057	ENSG00000189057			24200	protein-coding gene	gene with protein product		615584				24268661	Standard	NM_198947		Approved	CANP	uc001nnl.3	Q6SJ93	OTTHUMG00000167279	ENST00000343597.3:c.694C>A	11.37:g.58892264C>A						FAM111B_uc001nnm.2_Silent_p.R202R|FAM111B_uc010rko.1_Silent_p.R202R	p.R232R	NM_198947	NP_945185	Q6SJ93	F111B_HUMAN			4	937	+			232					B4E2G2|Q6P661	Silent	SNP	ENST00000343597.3	37	c.694C>A	CCDS7972.1																																																																																				PASS	0.373	FAM111B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393974.1	NM_198947		4	98	4	98	---	---	---	---
MPEG1	219972	broad.mit.edu	37	11	58979250	58979250	+	Missense_Mutation	SNP	G	G	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr11:58979250G>T	ENST00000361050.3	-	1	1174	c.1089C>A	c.(1087-1089)aaC>aaA	p.N363K	RN7SL42P_ENST00000579786.1_RNA	NM_001039396.1	NP_001034485.1	Q2M385	MPEG1_HUMAN	macrophage expressed 1	363						integral component of membrane (GO:0016021)		p.N363K(1)		NS(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(21)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39		all_epithelial(135;0.125)				CATCATCCGTGTTGGCCTGAA	0.483																																						uc001nnu.3																			1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(1087-1089)AAC>AAA		macrophage expressed gene 1 precursor							99.0	97.0	97.0					11																	58979250		1920	4130	6050	SO:0001583	missense	219972					integral to membrane		g.chr11:58979250G>T	AK097211	CCDS41650.1	11q12.1	2013-07-31				ENSG00000197629			29619	protein-coding gene	gene with protein product	"""macrophage expressed gene 1"""	610390				7888681, 23257510	Standard	NM_001039396		Approved	MPG1	uc001nnu.4	Q2M385		ENST00000361050.3:c.1089C>A	11.37:g.58979250G>T	ENSP00000354335:p.Asn363Lys						p.N363K	NM_001039396	NP_001034485	Q2M385	MPEG1_HUMAN			1	1245	-		all_epithelial(135;0.125)	363			Extracellular (Potential).		Q2M1T6|Q8TEF8	Missense_Mutation	SNP	ENST00000361050.3	37	c.1089C>A	CCDS41650.1	.	.	.	.	.	.	.	.	.	.	G	9.227	1.034942	0.19590	.	.	ENSG00000197629	ENST00000361050	T	0.54071	0.59	5.73	-1.24	0.09435	.	0.000000	0.85682	D	0.000000	T	0.68933	0.3055	M	0.81802	2.56	0.24941	N	0.99186	D	0.89917	1.0	D	0.83275	0.996	T	0.64214	-0.6460	10	0.87932	D	0	-30.7513	12.048	0.53491	0.2792:0.0:0.7208:0.0	.	363	Q2M385	MPEG1_HUMAN	K	363	ENSP00000354335:N363K	ENSP00000354335:N363K	N	-	3	2	MPEG1	58735826	0.034000	0.19679	0.142000	0.22268	0.062000	0.15995	0.250000	0.18235	-0.103000	0.12175	-0.768000	0.03414	AAC		PASS	0.483	MPEG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370027.1	NM_001039396		68	81	68	81	---	---	---	---
MS4A3	932	broad.mit.edu	37	11	59828757	59828757	+	Missense_Mutation	SNP	G	G	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr11:59828757G>T	ENST00000278865.3	+	2	197	c.124G>T	c.(124-126)Gat>Tat	p.D42Y	MS4A3_ENST00000358152.2_Missense_Mutation_p.D42Y|MS4A3_ENST00000526199.1_3'UTR|MS4A3_ENST00000395032.2_Intron|MS4A3_ENST00000534744.1_Missense_Mutation_p.D42Y	NM_006138.4	NP_006129.4	Q96HJ5	MS4A3_HUMAN	membrane-spanning 4-domains, subfamily A, member 3 (hematopoietic cell-specific)	42						cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)		p.D42Y(1)		endometrium(4)|kidney(2)|lung(9)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	21		all_epithelial(135;0.245)				TGGATCACCAGATTATCAGAA	0.453																																						uc001nom.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(1)	3						c.(124-126)GAT>TAT		membrane-spanning 4-domains, subfamily A, member							114.0	108.0	110.0					11																	59828757		2201	4295	6496	SO:0001583	missense	932					endomembrane system|integral to membrane|perinuclear region of cytoplasm	protein binding|receptor activity	g.chr11:59828757G>T	L35848	CCDS31567.1, CCDS31568.1, CCDS41651.1	11q12-q13.1	2008-03-25				ENSG00000149516			7317	protein-coding gene	gene with protein product		606498		CD20L		7524084	Standard	NM_006138		Approved	HTM4	uc001nom.3	Q96HJ5		ENST00000278865.3:c.124G>T	11.37:g.59828757G>T	ENSP00000278865:p.Asp42Tyr					MS4A3_uc001non.2_Missense_Mutation_p.D42Y|MS4A3_uc001noo.2_Intron	p.D42Y	NM_006138	NP_006129	Q96HJ5	MS4A3_HUMAN			2	252	+		all_epithelial(135;0.245)	42			Cytoplasmic (Potential).		A8MTP8|Q8NHW2	Missense_Mutation	SNP	ENST00000278865.3	37	c.124G>T	CCDS31567.1	.	.	.	.	.	.	.	.	.	.	G	11.96	1.795835	0.31777	.	.	ENSG00000149516	ENST00000358152;ENST00000278865;ENST00000534744	T;T;T	0.36340	1.26;3.05;1.26	4.21	0.681	0.17986	.	1.458410	0.04096	N	0.312085	T	0.21509	0.0518	N	0.19112	0.55	0.09310	N	1	P;P	0.45011	0.848;0.531	B;B	0.36845	0.234;0.118	T	0.17410	-1.0370	10	0.72032	D	0.01	-14.0956	3.4635	0.07541	0.5676:0.2464:0.186:0.0	.	42;42	Q96HJ5-2;Q96HJ5	.;MS4A3_HUMAN	Y	42	ENSP00000350872:D42Y;ENSP00000278865:D42Y;ENSP00000434117:D42Y	ENSP00000278865:D42Y	D	+	1	0	MS4A3	59585333	0.000000	0.05858	0.000000	0.03702	0.077000	0.17291	-0.074000	0.11450	0.026000	0.15269	0.563000	0.77884	GAT		PASS	0.453	MS4A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394417.1			30	132	30	132	---	---	---	---
FADS3	3995	broad.mit.edu	37	11	61645001	61645001	+	Silent	SNP	C	C	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr11:61645001C>A	ENST00000278829.2	-	7	1019	c.867G>T	c.(865-867)ctG>ctT	p.L289L	FADS3_ENST00000527697.1_Silent_p.L165L|FADS3_ENST00000525588.1_Silent_p.L261L|FADS3_ENST00000540820.1_Silent_p.L289L	NM_021727.3	NP_068373.1	Q9Y5Q0	FADS3_HUMAN	fatty acid desaturase 3	289					unsaturated fatty acid biosynthetic process (GO:0006636)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxidoreductase activity, acting on paired donors, with oxidation of a pair of donors resulting in the reduction of molecular oxygen to two molecules of water (GO:0016717)	p.L289L(1)		central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						GCATGCACACCAGCATGTACG	0.637																																						uc001nsm.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|pancreas(1)	2						c.(865-867)CTG>CTT		fatty acid desaturase 3							109.0	94.0	99.0					11																	61645001		2202	4299	6501	SO:0001819	synonymous_variant	3995				electron transport chain|transport|unsaturated fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to membrane|membrane fraction	heme binding|oxidoreductase activity, acting on paired donors, with oxidation of a pair of donors resulting in the reduction of molecular oxygen to two molecules of water	g.chr11:61645001C>A		CCDS8013.1	11q12-q13.1	2013-01-25			ENSG00000221968	ENSG00000221968	1.14.19.3	"""Fatty acid desaturases"""	3576	protein-coding gene	gene with protein product	"""delta-9-desaturase"""	606150		LLCDL3			Standard	NM_021727		Approved	CYB5RP	uc001nsm.3	Q9Y5Q0	OTTHUMG00000167500	ENST00000278829.2:c.867G>T	11.37:g.61645001C>A						FADS3_uc001nsn.2_Silent_p.L165L	p.L289L	NM_021727	NP_068373	Q9Y5Q0	FADS3_HUMAN			7	1020	-			289			Lumenal (Potential).		O60426	Silent	SNP	ENST00000278829.2	37	c.867G>T	CCDS8013.1	.	.	.	.	.	.	.	.	.	.	.	9.493	1.101207	0.20632	.	.	ENSG00000221968	ENST00000527379	.	.	.	5.69	3.7	0.42460	.	.	.	.	.	T	0.56558	0.1993	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.53315	-0.8456	4	.	.	.	-17.2837	7.5732	0.27920	0.0:0.5934:0.3224:0.0842	.	.	.	.	L	64	.	.	W	-	2	0	FADS3	61401577	0.166000	0.22962	0.999000	0.59377	0.971000	0.66376	0.254000	0.18314	1.400000	0.46741	-0.304000	0.09214	TGG		PASS	0.637	FADS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394836.1			12	45	12	45	---	---	---	---
AHNAK	79026	broad.mit.edu	37	11	62290294	62290294	+	Silent	SNP	C	C	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr11:62290294C>T	ENST00000378024.4	-	5	11869	c.11595G>A	c.(11593-11595)gaG>gaA	p.E3865E	AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	3865					protein oligomerization (GO:0051259)|regulation of RNA splicing (GO:0043484)|regulation of voltage-gated calcium channel activity (GO:1901385)	actin cytoskeleton (GO:0015629)|cell-cell contact zone (GO:0044291)|costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|vesicle (GO:0031982)	poly(A) RNA binding (GO:0044822)|S100 protein binding (GO:0044548)|structural molecule activity conferring elasticity (GO:0097493)	p.E3865E(1)		NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				TGATGTTCATCTCAGGCATCT	0.468																																						uc001ntl.2																			1	Substitution - coding silent(1)		lung(1)	ovary(10)|pancreas(4)|skin(4)|upper_aerodigestive_tract(1)	19						c.(11593-11595)GAG>GAA		AHNAK nucleoprotein isoform 1							218.0	224.0	222.0					11																	62290294		2202	4299	6501	SO:0001819	synonymous_variant	79026				nervous system development	nucleus	protein binding	g.chr11:62290294C>T	M80899	CCDS31584.1, CCDS44625.1	11q12-q13	2008-02-05	2007-03-30		ENSG00000124942	ENSG00000124942			347	protein-coding gene	gene with protein product	"""desmoyokin"""	103390	"""AHNAK nucleoprotein (desmoyokin)"""			7987395, 12153988	Standard	NM_024060		Approved	MGC5395	uc001ntl.3	Q09666	OTTHUMG00000167558	ENST00000378024.4:c.11595G>A	11.37:g.62290294C>T						AHNAK_uc001ntk.1_Intron	p.E3865E	NM_001620	NP_001611	Q09666	AHNK_HUMAN			5	11895	-		Melanoma(852;0.155)	3865					A1A586	Silent	SNP	ENST00000378024.4	37	c.11595G>A	CCDS31584.1																																																																																				PASS	0.468	AHNAK-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395572.1	NM_024060		88	239	88	239	---	---	---	---
STX5	6811	broad.mit.edu	37	11	62591750	62591750	+	Missense_Mutation	SNP	T	T	C			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr11:62591750T>C	ENST00000294179.3	-	10	949	c.796A>G	c.(796-798)Atc>Gtc	p.I266V	STX5_ENST00000377897.4_Missense_Mutation_p.I266V|STX5_ENST00000541317.1_Missense_Mutation_p.I170V|STX5_ENST00000394690.1_Missense_Mutation_p.I212V	NM_001244666.1|NM_003164.4	NP_001231595.1|NP_003155.2	Q13190	STX5_HUMAN	syntaxin 5	266	t-SNARE coiled-coil homology. {ECO:0000255|PROSITE-ProRule:PRU00202}.				ER to Golgi vesicle-mediated transport (GO:0006888)|intracellular protein transport (GO:0006886)|retrograde transport, endosome to Golgi (GO:0042147)|vesicle fusion with Golgi apparatus (GO:0048280)|vesicle targeting (GO:0006903)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|SNARE complex (GO:0031201)	protein N-terminus binding (GO:0047485)|SNAP receptor activity (GO:0005484)	p.I266V(1)		breast(2)|endometrium(2)|large_intestine(3)|lung(3)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	18						CGACTCTGGATGTAGGAATCC	0.512																																						uc001nvh.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|breast(1)	2						c.(796-798)ATC>GTC		syntaxin 5							177.0	161.0	167.0					11																	62591750		2201	4299	6500	SO:0001583	missense	6811				intracellular protein transport|retrograde transport, endosome to Golgi|vesicle targeting	ER-Golgi intermediate compartment membrane|Golgi membrane|integral to membrane|nucleus|SNARE complex	protein N-terminus binding|SNAP receptor activity	g.chr11:62591750T>C	U26648	CCDS8038.2, CCDS58140.1	11q12.3	2008-02-05	2006-04-25	2006-04-25	ENSG00000162236	ENSG00000162236			11440	protein-coding gene	gene with protein product		603189	"""syntaxin 5A"""	STX5A		9188044, 11959998	Standard	NM_003164		Approved	SED5	uc001nvh.3	Q13190	OTTHUMG00000143864	ENST00000294179.3:c.796A>G	11.37:g.62591750T>C	ENSP00000294179:p.Ile266Val					STX5_uc010rmi.1_Missense_Mutation_p.I170V|STX5_uc009yoh.2_RNA|STX5_uc001nvi.2_Missense_Mutation_p.I212V|STX5_uc010rmj.1_Missense_Mutation_p.I266V|STX5_uc001nvj.2_Missense_Mutation_p.I81V	p.I266V	NM_003164	NP_003155	Q13190	STX5_HUMAN			10	950	-			266			t-SNARE coiled-coil homology.|Cytoplasmic (Potential).		B2R8T2|F8W8Q9|Q5U0D4|Q7Z3T6|Q9BUG1	Missense_Mutation	SNP	ENST00000294179.3	37	c.796A>G	CCDS8038.2	.	.	.	.	.	.	.	.	.	.	T	12.20	1.865858	0.32977	.	.	ENSG00000162236	ENST00000377897;ENST00000294179;ENST00000394690;ENST00000541317	T;T;T;T	0.24723	1.84;1.84;1.84;1.84	4.82	4.82	0.62117	t-SNARE (1);Target SNARE coiled-coil domain (2);	0.102926	0.64402	D	0.000004	T	0.16896	0.0406	N	0.21097	0.63	0.80722	D	1	B;B	0.28324	0.207;0.131	B;B	0.30943	0.122;0.057	T	0.06844	-1.0804	10	0.12103	T	0.63	-22.2887	12.3892	0.55348	0.0:0.0:0.0:1.0	.	266;266	F8W8Q9;Q13190	.;STX5_HUMAN	V	266;266;212;170	ENSP00000367129:I266V;ENSP00000294179:I266V;ENSP00000378182:I212V;ENSP00000441428:I170V	ENSP00000294179:I266V	I	-	1	0	STX5	62348326	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.522000	0.81844	2.042000	0.60477	0.379000	0.24179	ATC		PASS	0.512	STX5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000290113.1	NM_003164		36	112	36	112	---	---	---	---
NRXN2	9379	broad.mit.edu	37	11	64453121	64453121	+	Silent	SNP	G	G	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr11:64453121G>T	ENST00000377551.1	-	5	1360	c.1149C>A	c.(1147-1149)cgC>cgA	p.R383R	NRXN2_ENST00000265459.6_Silent_p.R383R|NRXN2_ENST00000409571.1_Silent_p.R383R|NRXN2_ENST00000377559.3_Silent_p.R359R			Q9P2S2	NRX2A_HUMAN	neurexin 2	383	Laminin G-like 2. {ECO:0000255|PROSITE- ProRule:PRU00122}.				adult behavior (GO:0030534)|gephyrin clustering (GO:0097116)|neuroligin clustering (GO:0097118)|neuron cell-cell adhesion (GO:0007158)|neurotransmitter secretion (GO:0007269)|postsynaptic density protein 95 clustering (GO:0097119)|postsynaptic membrane assembly (GO:0097104)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)|vocal learning (GO:0042297)|vocalization behavior (GO:0071625)	integral component of membrane (GO:0016021)	calcium channel regulator activity (GO:0005246)|cell adhesion molecule binding (GO:0050839)|metal ion binding (GO:0046872)|neuroligin family protein binding (GO:0097109)	p.R383R(1)		breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(6)|urinary_tract(1)	71						CTCCTACCTGGCGCAGGTTTC	0.607																																						uc001oar.2																			1	Substitution - coding silent(1)		lung(1)	upper_aerodigestive_tract(2)|central_nervous_system(2)|skin(2)|ovary(2)|kidney(1)|pancreas(1)	10						c.(1147-1149)CGC>CGA		neurexin 2 isoform alpha-1 precursor							85.0	86.0	86.0					11																	64453121		2201	4297	6498	SO:0001819	synonymous_variant	9379				cell adhesion	integral to membrane		g.chr11:64453121G>T		CCDS8077.1, CCDS31597.1, CCDS8078.1	11q13	2008-07-18			ENSG00000110076	ENSG00000110076			8009	protein-coding gene	gene with protein product	"""neurexin II"""	600566				1621094	Standard	NM_015080		Approved		uc021qkw.1	P58401	OTTHUMG00000045214	ENST00000377551.1:c.1149C>A	11.37:g.64453121G>T						NRXN2_uc001oas.2_Silent_p.R359R|NRXN2_uc001oaq.2_Silent_p.R57R	p.R383R	NM_015080	NP_055895	P58401	NRX2B_HUMAN			7	1588	-			203			Extracellular (Potential).|Laminin G-like.		A7E2C1|Q9Y2D6	Silent	SNP	ENST00000377551.1	37	c.1149C>A	CCDS8077.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	9.353|9.353	1.065992|1.065992	0.20067|0.20067	.|.	.|.	ENSG00000110076|ENSG00000110076	ENST00000417749|ENST00000437746	.|.	.|.	.|.	4.0|4.0	4.0|4.0	0.46444|0.46444	.|.	.|.	.|.	.|.	.|.	T|T	0.63022|0.63022	0.2476|0.2476	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.61983|0.61983	-0.6950|-0.6950	4|4	.|.	.|.	.|.	.|.	11.9853|11.9853	0.53145|0.53145	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|.	.|.	.|.	D|T	144|173	.|.	.|.	A|P	-|-	2|1	0|0	NRXN2|NRXN2	64209697|64209697	0.983000|0.983000	0.35010|0.35010	1.000000|1.000000	0.80357|0.80357	0.976000|0.976000	0.68499|0.68499	0.182000|0.182000	0.16900|0.16900	1.951000|1.951000	0.56629|0.56629	0.467000|0.467000	0.42956|0.42956	GCC|CCA		PASS	0.607	NRXN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000104967.3	NM_015080		49	111	49	111	---	---	---	---
DPF2	5977	broad.mit.edu	37	11	65113402	65113402	+	Splice_Site	SNP	C	C	G			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr11:65113402C>G	ENST00000528416.1	+	8	910	c.777C>G	c.(775-777)tcC>tcG	p.S259S	DPF2_ENST00000532264.1_3'UTR|DPF2_ENST00000252268.4_Splice_Site_p.S273S|DPF2_ENST00000415073.2_Intron	NM_006268.4	NP_006259.1	Q92785	REQU_HUMAN	D4, zinc and double PHD fingers family 2	259					apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|zinc ion binding (GO:0008270)	p.S259S(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)|prostate(1)	23						TCTCTGTAGCCAAAAAGGGTC	0.517																																						uc001odm.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(775-777)TCC>TCG		D4, zinc and double PHD fingers family 2							115.0	114.0	114.0					11																	65113402		2201	4297	6498	SO:0001630	splice_region_variant	5977				apoptosis|induction of apoptosis by extracellular signals|regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|nucleus	nucleic acid binding|zinc ion binding	g.chr11:65113402C>G	U94585	CCDS8100.1	11q13.1	2014-05-13	2003-10-06	2003-10-08	ENSG00000133884	ENSG00000133884		"""Zinc fingers, PHD-type"""	9964	protein-coding gene	gene with protein product		601671	"""requiem, apoptosis response zinc finger gene"""	REQ		11845289	Standard	NM_006268		Approved	ubi-d4, BAF45d	uc001odm.3	Q92785	OTTHUMG00000165985	ENST00000528416.1:c.776-1C>G	11.37:g.65113402C>G						DPF2_uc001odn.2_Silent_p.S273S|DPF2_uc010roe.1_Intron	p.S259S	NM_006268	NP_006259	Q92785	REQU_HUMAN			8	789	+			259					A8K7C9|B4DT58	Silent	SNP	ENST00000528416.1	37	c.777C>G	CCDS8100.1	.	.	.	.	.	.	.	.	.	.	C	12.51	1.958370	0.34565	.	.	ENSG00000133884	ENST00000531989	D	0.90732	-2.72	5.92	3.0	0.34707	.	.	.	.	.	T	0.81133	0.4759	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.68383	-0.5423	6	0.07175	T	0.84	.	6.9639	0.24613	0.1501:0.699:0.0:0.1509	.	.	.	.	R	22	ENSP00000435887:P22R	ENSP00000435887:P22R	P	+	2	0	DPF2	64869978	1.000000	0.71417	1.000000	0.80357	0.545000	0.35147	1.300000	0.33436	0.377000	0.24735	0.561000	0.74099	CCA		PASS	0.517	DPF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387293.3	NM_006268	Silent	37	141	37	141	---	---	---	---
SSSCA1	10534	broad.mit.edu	37	11	65338992	65338992	+	Silent	SNP	A	A	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr11:65338992A>T	ENST00000309328.3	+	4	449	c.387A>T	c.(385-387)gcA>gcT	p.A129A	FAM89B_ENST00000316409.2_5'Flank|SSSCA1-AS1_ENST00000567594.1_RNA|FAM89B_ENST00000449319.2_5'Flank|SSSCA1_ENST00000526877.1_3'UTR|FAM89B_ENST00000530349.1_5'Flank|SSSCA1_ENST00000531405.1_Silent_p.A92A|SSSCA1_ENST00000527920.1_Intron	NM_006396.1	NP_006387.1	O60232	SSA27_HUMAN	Sjogren syndrome/scleroderma autoantigen 1	129					mitotic nuclear division (GO:0007067)			p.A129A(1)		kidney(1)|lung(4)|ovary(1)|prostate(1)|skin(1)	8						AGGGAGCTGCAGCAGGACTCA	0.652																																						uc001oek.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|skin(1)	2						c.(385-387)GCA>GCT		Sjogren syndrome/scleroderma autoantigen 1							68.0	67.0	67.0					11																	65338992		2201	4297	6498	SO:0001819	synonymous_variant	10534				cell division|mitosis		protein binding	g.chr11:65338992A>T	AB001740	CCDS8104.1	11q13.1	2007-10-04	2007-10-04			ENSG00000173465			11328	protein-coding gene	gene with protein product		606044	"""Sjogren's syndrome/scleroderma autoantigen 1"""			9486406	Standard	NM_006396		Approved	p27	uc001oek.3	O60232		ENST00000309328.3:c.387A>T	11.37:g.65338992A>T						FAM89B_uc001oen.2_5'Flank|FAM89B_uc001oem.2_5'Flank|FAM89B_uc001oel.2_5'Flank	p.A129A	NM_006396	NP_006387	O60232	SSA27_HUMAN			4	407	+			129						Silent	SNP	ENST00000309328.3	37	c.387A>T	CCDS8104.1																																																																																				PASS	0.652	SSSCA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389511.1	NM_006396		28	107	28	107	---	---	---	---
PCNXL3	399909	broad.mit.edu	37	11	65397058	65397058	+	Silent	SNP	G	G	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr11:65397058G>T	ENST00000355703.3	+	26	4607	c.4068G>T	c.(4066-4068)ctG>ctT	p.L1356L		NM_032223.2	NP_115599.2	Q9H6A9	PCX3_HUMAN	pecanex-like 3 (Drosophila)	1356						integral component of membrane (GO:0016021)		p.L1356L(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)	13						AGCACACACTGTGTGGGGACC	0.577																																						uc001oey.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(4066-4068)CTG>CTT		pecanex-like 3							52.0	57.0	55.0					11																	65397058		2192	4279	6471	SO:0001819	synonymous_variant	399909					integral to membrane		g.chr11:65397058G>T	BX640978	CCDS44650.1	11q12.1	2008-07-21			ENSG00000197136	ENSG00000197136			18760	protein-coding gene	gene with protein product						15146197	Standard	NM_032223		Approved	FLJ22427	uc001oey.2	Q9H6A9	OTTHUMG00000166539	ENST00000355703.3:c.4068G>T	11.37:g.65397058G>T						PCNXL3_uc001oez.2_Silent_p.L243L	p.L1356L	NM_032223	NP_115599	Q9H6A9	PCX3_HUMAN			26	4068	+			1356					Q6MZN8	Silent	SNP	ENST00000355703.3	37	c.4068G>T	CCDS44650.1																																																																																				PASS	0.577	PCNXL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390321.1	NM_032223		7	25	7	25	---	---	---	---
TSGA10IP	254187	broad.mit.edu	37	11	65714655	65714655	+	RNA	SNP	G	G	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr11:65714655G>T	ENST00000532620.1	+	0	590				TSGA10IP_ENST00000608857.1_RNA			Q3SY00	T10IP_HUMAN	testis specific, 10 interacting protein									p.R90L(1)		endometrium(2)|kidney(3)|lung(9)	14						ACAGATGTCCGGGCTGTGCTT	0.637																																						uc001ogk.1																			1	Substitution - Missense(1)		lung(1)		0						c.(358-360)CGG>CTG		testis specific, 10 interacting protein							16.0	19.0	18.0					11																	65714655		2117	4220	6337			254187							g.chr11:65714655G>T	AK057442	CCDS66138.1	11q13.1	2014-03-25			ENSG00000175513	ENSG00000175513			26555	protein-coding gene	gene with protein product						14702039	Standard	NM_152762		Approved	FLJ32880, FAM161C	uc001ogk.1	Q3SY00	OTTHUMG00000166753		11.37:g.65714655G>T						TSGA10IP_uc009yqw.1_RNA|TSGA10IP_uc009yqx.1_Intron	p.R120L	NM_152762	NP_689975	Q3SY00	T10IP_HUMAN			5	391	+			120					Q3SXZ9|Q3SY01|Q96M26	Missense_Mutation	SNP	ENST00000532620.1	37	c.359G>T																																																																																					PASS	0.637	TSGA10IP-001	KNOWN	basic	processed_transcript	polymorphic_pseudogene	OTTHUMT00000391373.2	NM_152762		6	11	6	11	---	---	---	---
CD248	57124	broad.mit.edu	37	11	66083426	66083426	+	Missense_Mutation	SNP	G	G	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr11:66083426G>T	ENST00000311330.3	-	1	1089	c.1073C>A	c.(1072-1074)gCc>gAc	p.A358D	RP11-867G23.13_ENST00000534065.1_RNA	NM_020404.2	NP_065137.1	Q9HCU0	CD248_HUMAN	CD248 molecule, endosialin	358					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.A358D(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						GGAAGCCTGGGCACCCATGGC	0.592																																						uc001ohm.1																			1	Substitution - Missense(1)		lung(1)	large_intestine(3)	3						c.(1072-1074)GCC>GAC		tumor endothelial marker 1 precursor	Cefalotin(DB00456)						59.0	55.0	56.0					11																	66083426		2200	4295	6495	SO:0001583	missense	57124					integral to membrane|proteinaceous extracellular matrix	calcium ion binding|sugar binding	g.chr11:66083426G>T	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.1073C>A	11.37:g.66083426G>T	ENSP00000308117:p.Ala358Asp						p.A358D	NM_020404	NP_065137	Q9HCU0	CD248_HUMAN			1	1090	-			358			Extracellular (Potential).		Q2M2V5|Q3SX55|Q96KB6	Missense_Mutation	SNP	ENST00000311330.3	37	c.1073C>A	CCDS8134.1	.	.	.	.	.	.	.	.	.	.	G	14.35	2.510116	0.44660	.	.	ENSG00000174807	ENST00000311330	D	0.87491	-2.26	4.33	4.33	0.51752	.	0.869210	0.09993	N	0.729495	T	0.80248	0.4588	N	0.24115	0.695	0.09310	N	1	B	0.21905	0.062	B	0.19391	0.025	T	0.64356	-0.6427	10	0.23302	T	0.38	-11.927	14.7086	0.69211	0.0:0.0:1.0:0.0	.	358	Q9HCU0	CD248_HUMAN	D	358	ENSP00000308117:A358D	ENSP00000308117:A358D	A	-	2	0	CD248	65840002	0.142000	0.22610	0.424000	0.26647	0.576000	0.36127	3.108000	0.50337	2.407000	0.81776	0.462000	0.41574	GCC		PASS	0.592	CD248-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392922.2	NM_020404		14	49	14	49	---	---	---	---
CD248	57124	broad.mit.edu	37	11	66083757	66083757	+	Nonsense_Mutation	SNP	C	C	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr11:66083757C>A	ENST00000311330.3	-	1	758	c.742G>T	c.(742-744)Gag>Tag	p.E248*	RP11-867G23.13_ENST00000534065.1_RNA	NM_020404.2	NP_065137.1	Q9HCU0	CD248_HUMAN	CD248 molecule, endosialin	248					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.E248*(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						TCCACCTCCTCCACACATTCG	0.687																																						uc001ohm.1																			1	Substitution - Nonsense(1)		lung(1)	large_intestine(3)	3						c.(742-744)GAG>TAG		tumor endothelial marker 1 precursor	Cefalotin(DB00456)						39.0	50.0	46.0					11																	66083757		2200	4294	6494	SO:0001587	stop_gained	57124					integral to membrane|proteinaceous extracellular matrix	calcium ion binding|sugar binding	g.chr11:66083757C>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.742G>T	11.37:g.66083757C>A	ENSP00000308117:p.Glu248*						p.E248*	NM_020404	NP_065137	Q9HCU0	CD248_HUMAN			1	759	-			248			Extracellular (Potential).		Q2M2V5|Q3SX55|Q96KB6	Nonsense_Mutation	SNP	ENST00000311330.3	37	c.742G>T	CCDS8134.1	.	.	.	.	.	.	.	.	.	.	C	24.6	4.549524	0.86127	.	.	ENSG00000174807	ENST00000311330	.	.	.	4.17	4.17	0.49024	.	0.632817	0.14769	N	0.299486	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.62326	D	0.03	-16.693	13.9876	0.64345	0.0:1.0:0.0:0.0	.	.	.	.	X	248	.	ENSP00000308117:E248X	E	-	1	0	CD248	65840333	0.007000	0.16637	0.996000	0.52242	0.966000	0.64601	0.641000	0.24720	2.160000	0.67779	0.462000	0.41574	GAG		PASS	0.687	CD248-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392922.2	NM_020404		10	29	10	29	---	---	---	---
RBM4B	83759	broad.mit.edu	37	11	66444332	66444332	+	Missense_Mutation	SNP	C	C	G			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr11:66444332C>G	ENST00000525754.1	-	1	887	c.219G>C	c.(217-219)aaG>aaC	p.K73N	RBM4B_ENST00000524637.1_Missense_Mutation_p.K73N|RBM4B_ENST00000310046.4_Missense_Mutation_p.K73N|RBM4B_ENST00000531969.1_Missense_Mutation_p.K73N|RBM4B_ENST00000531036.2_Missense_Mutation_p.K73N			Q9BQ04	RBM4B_HUMAN	RNA binding motif protein 4B	73					circadian regulation of gene expression (GO:0032922)|circadian rhythm (GO:0007623)|entrainment of circadian clock by photoperiod (GO:0043153)|mRNA processing (GO:0006397)|positive regulation of gene expression (GO:0010628)|regulation of translation (GO:0006417)|RNA splicing (GO:0008380)	nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)	p.K73N(1)		breast(1)|endometrium(2)|large_intestine(4)|lung(1)|urinary_tract(2)	10						AAGCTTTGCTCTTATTCTTGC	0.493																																						uc001oja.2																			1	Substitution - Missense(1)		lung(1)		0						c.(217-219)AAG>AAC		RNA binding motif protein 4B							293.0	260.0	271.0					11																	66444332		2200	4295	6495	SO:0001583	missense	83759				circadian regulation of gene expression|entrainment of circadian clock by photoperiod|mRNA processing|RNA splicing	nucleolus	nucleotide binding|RNA binding|zinc ion binding	g.chr11:66444332C>G	AK095158	CCDS8149.1, CCDS66144.1	11q13	2013-02-12	2006-01-25	2006-01-25				"""Zinc fingers, CCHC domain containing"", ""RNA binding motif (RRM) containing"""	28842	protein-coding gene	gene with protein product			"""RNA binding motif protein 30"""	RBM30		12477932	Standard	XR_247213		Approved	MGC10871, ZCCHC15, RBM4L, ZCRB3B, ZCCHC21B	uc001ojb.3	Q9BQ04		ENST00000525754.1:c.219G>C	11.37:g.66444332C>G	ENSP00000433071:p.Lys73Asn					RBM4B_uc001ojb.2_Missense_Mutation_p.K73N	p.K73N	NM_031492	NP_113680	Q9BQ04	RBM4B_HUMAN			1	888	-			73					B3KT83	Missense_Mutation	SNP	ENST00000525754.1	37	c.219G>C	CCDS8149.1	.	.	.	.	.	.	.	.	.	.	C	15.92	2.973896	0.53720	.	.	ENSG00000173914	ENST00000525754;ENST00000310046;ENST00000531969;ENST00000524637	T;T;T;T	0.75938	-0.98;-0.98;-0.98;-0.98	5.67	5.67	0.87782	Nucleotide-binding, alpha-beta plait (1);	0.000000	0.85682	D	0.000000	T	0.79399	0.4439	M	0.77820	2.39	0.58432	D	0.999999	P	0.42296	0.775	B	0.43155	0.41	T	0.81799	-0.0767	10	0.59425	D	0.04	-19.0055	18.5471	0.91052	0.0:1.0:0.0:0.0	.	73	Q9BQ04	RBM4B_HUMAN	N	73	ENSP00000433071:K73N;ENSP00000310471:K73N;ENSP00000435239:K73N;ENSP00000433113:K73N	ENSP00000310471:K73N	K	-	3	2	RBM4B	66200908	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	3.081000	0.50120	2.694000	0.91930	0.555000	0.69702	AAG		PASS	0.493	RBM4B-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393851.1	NM_031492		82	221	82	221	---	---	---	---
FGF19	9965	broad.mit.edu	37	11	69514229	69514229	+	Missense_Mutation	SNP	C	C	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr11:69514229C>A	ENST00000294312.3	-	3	1217	c.452G>T	c.(451-453)cGg>cTg	p.R151L		NM_005117.2	NP_005108.1	O95750	FGF19_HUMAN	fibroblast growth factor 19	151					epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|negative regulation of bile acid biosynthetic process (GO:0070858)|nervous system development (GO:0007399)|neural crest cell migration (GO:0001755)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell proliferation (GO:0008284)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of glucose import (GO:0046326)|positive regulation of JNK cascade (GO:0046330)	extracellular region (GO:0005576)	fibroblast growth factor receptor binding (GO:0005104)	p.R151L(1)		large_intestine(2)|lung(2)|skin(2)	6	all_cancers(3;5.53e-114)|all_epithelial(3;1.34e-121)|Breast(3;9.28e-34)|all_lung(4;1.99e-21)|Lung NSC(4;4.65e-21)|Hepatocellular(3;6.15e-15)|Melanoma(5;1.89e-05)|Ovarian(3;0.0348)		Epithelial(3;3.05e-56)|all cancers(3;2.69e-50)|Lung(3;1.13e-16)|LUSC - Lung squamous cell carcinoma(11;3.74e-15)|STAD - Stomach adenocarcinoma(18;0.0278)|LUAD - Lung adenocarcinoma(13;0.0537)			GTACAGCTGCCGCTGTTTGGC	0.582																																						uc001opf.2																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(451-453)CGG>CTG		fibroblast growth factor 19 precursor							92.0	90.0	91.0					11																	69514229		2200	4294	6494	SO:0001583	missense	9965				fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|negative regulation of bile acid biosynthetic process|nervous system development|positive regulation of cell proliferation|positive regulation of ERK1 and ERK2 cascade|positive regulation of glucose import|positive regulation of JNK cascade	extracellular region	fibroblast growth factor receptor binding|growth factor activity	g.chr11:69514229C>A	AB018122	CCDS8193.1	11q13.1	2008-02-01			ENSG00000162344	ENSG00000162344			3675	protein-coding gene	gene with protein product		603891				9931477, 10525310	Standard	NM_005117		Approved		uc001opf.3	O95750	OTTHUMG00000167886	ENST00000294312.3:c.452G>T	11.37:g.69514229C>A	ENSP00000294312:p.Arg151Leu						p.R151L	NM_005117	NP_005108	O95750	FGF19_HUMAN	Epithelial(3;3.05e-56)|all cancers(3;2.69e-50)|Lung(3;1.13e-16)|LUSC - Lung squamous cell carcinoma(11;3.74e-15)|STAD - Stomach adenocarcinoma(18;0.0278)|LUAD - Lung adenocarcinoma(13;0.0537)		3	915	-	all_cancers(3;5.53e-114)|all_epithelial(3;1.34e-121)|Breast(3;9.28e-34)|all_lung(4;1.99e-21)|Lung NSC(4;4.65e-21)|Hepatocellular(3;6.15e-15)|Melanoma(5;1.89e-05)|Ovarian(3;0.0348)		151						Missense_Mutation	SNP	ENST00000294312.3	37	c.452G>T	CCDS8193.1	.	.	.	.	.	.	.	.	.	.	C	18.09	3.546966	0.65198	.	.	ENSG00000162344	ENST00000294312	D	0.87491	-2.26	5.32	5.32	0.75619	.	0.798663	0.11087	U	0.601196	D	0.92958	0.7759	M	0.79123	2.44	0.43574	D	0.995902	D	0.76494	0.999	D	0.69142	0.962	D	0.91023	0.4858	10	0.62326	D	0.03	-32.0837	12.3617	0.55207	0.0:0.9223:0.0:0.0777	.	151	O95750	FGF19_HUMAN	L	151	ENSP00000294312:R151L	ENSP00000294312:R151L	R	-	2	0	FGF19	69223410	1.000000	0.71417	0.985000	0.45067	0.381000	0.30169	2.141000	0.42168	2.490000	0.84030	0.555000	0.69702	CGG		PASS	0.582	FGF19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396833.1	NM_005117		37	58	37	58	---	---	---	---
SHANK2	22941	broad.mit.edu	37	11	70332401	70332401	+	Missense_Mutation	SNP	C	C	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr11:70332401C>T	ENST00000423696.2	-	15	2896	c.2860G>A	c.(2860-2862)Gag>Aag	p.E954K	SHANK2_ENST00000338508.4_Missense_Mutation_p.E1334K|SHANK2_ENST00000449833.2_Missense_Mutation_p.E738K|SHANK2_ENST00000409161.1_Missense_Mutation_p.E737K			Q9UPX8	SHAN2_HUMAN	SH3 and multiple ankyrin repeat domains 2	954					adult behavior (GO:0030534)|learning (GO:0007612)|long term synaptic depression (GO:0060292)|long-term synaptic potentiation (GO:0060291)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|vocalization behavior (GO:0071625)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|cell junction (GO:0030054)|ciliary membrane (GO:0060170)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|growth cone (GO:0030426)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	GKAP/Homer scaffold activity (GO:0030160)|ionotropic glutamate receptor binding (GO:0035255)	p.E738K(1)|p.E1334K(1)		NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(30)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62			LUSC - Lung squamous cell carcinoma(11;4.72e-09)|STAD - Stomach adenocarcinoma(18;0.071)			TCTGCCTTCTCGTCCTCTTCC	0.602																																						uc001oqc.2																			2	Substitution - Missense(2)		lung(2)	ovary(2)|pancreas(1)|central_nervous_system(1)|skin(1)	5						c.(3997-3999)GAG>AAG		SH3 and multiple ankyrin repeat domains 2							101.0	92.0	95.0					11																	70332401		2200	4294	6494	SO:0001583	missense	22941				intracellular signal transduction	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	GKAP/Homer scaffold activity|ionotropic glutamate receptor binding|SH3 domain binding	g.chr11:70332401C>T	AF141901		11q13.2	2013-01-10			ENSG00000162105	ENSG00000162105		"""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	14295	protein-coding gene	gene with protein product		603290	"""cortactin binding protein 1"""	CORTBP1		10506216	Standard	XM_005277930		Approved	CTTNBP1, ProSAP1, SHANK, SPANK-3	uc001oqc.3	Q9UPX8	OTTHUMG00000154615	ENST00000423696.2:c.2860G>A	11.37:g.70332401C>T	ENSP00000394536:p.Glu954Lys					SHANK2_uc010rqn.1_Missense_Mutation_p.E745K|SHANK2_uc001opz.2_Missense_Mutation_p.E738K|uc009ysn.1_Intron|SHANK2_uc001opy.2_Intron	p.E1333K	NM_012309	NP_036441	Q9UPX8	SHAN2_HUMAN	LUSC - Lung squamous cell carcinoma(11;4.72e-09)|STAD - Stomach adenocarcinoma(18;0.071)		21	4075	-			954			SH3-binding (Potential).		C0SPG8|C0SPG9|Q3Y8G9|Q52LK2|Q9UKP1	Missense_Mutation	SNP	ENST00000423696.2	37	c.3997G>A		.	.	.	.	.	.	.	.	.	.	C	11.85	1.760347	0.31137	.	.	ENSG00000162105	ENST00000449833;ENST00000409161;ENST00000424924;ENST00000338508;ENST00000423696;ENST00000433693;ENST00000294018	T;T;T;T;T;T	0.41758	2.28;2.28;3.03;0.99;2.4;2.41	5.24	4.32	0.51571	.	0.665591	0.15277	N	0.270905	T	0.44265	0.1285	M	0.66939	2.045	0.80722	D	1	P;P;P	0.45715	0.788;0.865;0.782	B;B;B	0.39217	0.254;0.294;0.215	T	0.51772	-0.8663	10	0.72032	D	0.01	.	15.2539	0.73571	0.0:0.8428:0.1572:0.0	.	954;1333;738	Q9UPX8;Q9UPX8-3;Q9UPX8-4	SHAN2_HUMAN;.;.	K	738;737;612;1334;954;972;957	ENSP00000399423:E738K;ENSP00000386491:E737K;ENSP00000402944:E612K;ENSP00000345193:E1334K;ENSP00000394536:E954K;ENSP00000294018:E957K	ENSP00000294018:E957K	E	-	1	0	SHANK2	70010049	0.997000	0.39634	0.034000	0.17996	0.525000	0.34531	3.213000	0.51153	1.181000	0.42912	0.561000	0.74099	GAG		PASS	0.602	SHANK2-203	KNOWN	basic	protein_coding	protein_coding		NM_012309		16	74	16	74	---	---	---	---
SHANK2	22941	broad.mit.edu	37	11	70332942	70332942	+	Silent	SNP	C	C	T	rs138180057		TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr11:70332942C>T	ENST00000423696.2	-	15	2355	c.2319G>A	c.(2317-2319)gaG>gaA	p.E773E	SHANK2_ENST00000338508.4_Silent_p.E1153E|SHANK2_ENST00000449833.2_Silent_p.E557E|SHANK2_ENST00000409161.1_Silent_p.E556E			Q9UPX8	SHAN2_HUMAN	SH3 and multiple ankyrin repeat domains 2	773					adult behavior (GO:0030534)|learning (GO:0007612)|long term synaptic depression (GO:0060292)|long-term synaptic potentiation (GO:0060291)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|vocalization behavior (GO:0071625)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|cell junction (GO:0030054)|ciliary membrane (GO:0060170)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|growth cone (GO:0030426)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	GKAP/Homer scaffold activity (GO:0030160)|ionotropic glutamate receptor binding (GO:0035255)	p.E557E(2)|p.E1153E(1)		NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(30)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62			LUSC - Lung squamous cell carcinoma(11;4.72e-09)|STAD - Stomach adenocarcinoma(18;0.071)			GGTTTTCGGGCTCCCTGGGCG	0.677																																						uc001oqc.2																			3	Substitution - coding silent(3)	p.E557E(1)	lung(2)|skin(1)	ovary(2)|pancreas(1)|central_nervous_system(1)|skin(1)	5						c.(3454-3456)GAG>GAA		SH3 and multiple ankyrin repeat domains 2							31.0	37.0	35.0					11																	70332942		2198	4288	6486	SO:0001819	synonymous_variant	22941				intracellular signal transduction	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	GKAP/Homer scaffold activity|ionotropic glutamate receptor binding|SH3 domain binding	g.chr11:70332942C>T	AF141901		11q13.2	2013-01-10			ENSG00000162105	ENSG00000162105		"""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	14295	protein-coding gene	gene with protein product		603290	"""cortactin binding protein 1"""	CORTBP1		10506216	Standard	XM_005277930		Approved	CTTNBP1, ProSAP1, SHANK, SPANK-3	uc001oqc.3	Q9UPX8	OTTHUMG00000154615	ENST00000423696.2:c.2319G>A	11.37:g.70332942C>T						SHANK2_uc010rqn.1_Silent_p.E564E|SHANK2_uc001opz.2_Silent_p.E557E|uc009ysn.1_Intron|SHANK2_uc001opy.2_Intron	p.E1152E	NM_012309	NP_036441	Q9UPX8	SHAN2_HUMAN	LUSC - Lung squamous cell carcinoma(11;4.72e-09)|STAD - Stomach adenocarcinoma(18;0.071)		21	3534	-			773					C0SPG8|C0SPG9|Q3Y8G9|Q52LK2|Q9UKP1	Silent	SNP	ENST00000423696.2	37	c.3456G>A																																																																																					PASS	0.677	SHANK2-203	KNOWN	basic	protein_coding	protein_coding		NM_012309		15	44	15	44	---	---	---	---
NADSYN1	55191	broad.mit.edu	37	11	71184686	71184686	+	Missense_Mutation	SNP	G	G	C	rs137910047		TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr11:71184686G>C	ENST00000319023.2	+	8	808	c.620G>C	c.(619-621)cGc>cCc	p.R207P	NADSYN1_ENST00000539574.1_5'Flank	NM_018161.4	NP_060631.2	Q6IA69	NADE_HUMAN	NAD synthetase 1	207	CN hydrolase. {ECO:0000255|PROSITE- ProRule:PRU00054}.			R -> H (in Ref. 3; CAG33567). {ECO:0000305}.	NAD biosynthetic process (GO:0009435)|NAD metabolic process (GO:0019674)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	ATP binding (GO:0005524)|hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds (GO:0016810)|NAD+ synthase (glutamine-hydrolyzing) activity (GO:0003952)	p.R207P(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	25					L-Glutamine(DB00130)	CAAGTGCTGCGCAAAGCCAAC	0.612																																					Ovarian(79;763 1781 6490 50276)	uc001oqn.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(619-621)CGC>CCC		NAD synthetase 1	L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)						83.0	74.0	77.0					11																	71184686		2200	4294	6494	SO:0001583	missense	55191				NAD biosynthetic process|water-soluble vitamin metabolic process	cytosol	ATP binding|hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds|NAD+ synthase (glutamine-hydrolyzing) activity|protein binding	g.chr11:71184686G>C	AB091316	CCDS8201.1	11q13.4	2008-02-05				ENSG00000172890			29832	protein-coding gene	gene with protein product		608285				12547821	Standard	NM_018161		Approved	FLJ10631	uc001oqn.3	Q6IA69		ENST00000319023.2:c.620G>C	11.37:g.71184686G>C	ENSP00000326424:p.Arg207Pro					NADSYN1_uc001oqm.2_RNA|NADSYN1_uc001oqo.2_5'UTR	p.R207P	NM_018161	NP_060631	Q6IA69	NADE_HUMAN			8	746	+			207	R -> H (in Ref. 3; CAG33567).		CN hydrolase.		B3KUU4|Q86SN2|Q9HA25|Q9NVM8	Missense_Mutation	SNP	ENST00000319023.2	37	c.620G>C	CCDS8201.1	.	.	.	.	.	.	.	.	.	.	G	20.1	3.940096	0.73557	.	.	ENSG00000172890	ENST00000319023	D	0.85258	-1.96	4.99	4.99	0.66335	Nitrilase/cyanide hydratase and apolipoprotein N-acyltransferase (3);	0.000000	0.85682	D	0.000000	D	0.93710	0.7990	M	0.92691	3.335	0.80722	D	1	D	0.76494	0.999	D	0.74348	0.983	D	0.94326	0.7558	10	0.46703	T	0.11	-35.7457	15.7837	0.78286	0.0:0.0:1.0:0.0	.	207	Q6IA69	NADE_HUMAN	P	207	ENSP00000326424:R207P	ENSP00000326424:R207P	R	+	2	0	NADSYN1	70862334	1.000000	0.71417	1.000000	0.80357	0.342000	0.28953	6.207000	0.72159	2.309000	0.77851	0.561000	0.74099	CGC		PASS	0.612	NADSYN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394356.1	NM_018161		23	80	23	80	---	---	---	---
PGM2L1	283209	broad.mit.edu	37	11	74047787	74047787	+	Silent	SNP	T	T	C			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr11:74047787T>C	ENST00000298198.4	-	14	2090	c.1779A>G	c.(1777-1779)ttA>ttG	p.L593L		NM_173582.3	NP_775853.2	Q6PCE3	PGM2L_HUMAN	phosphoglucomutase 2-like 1	593					glucose metabolic process (GO:0006006)|phosphorylation (GO:0016310)	cytosol (GO:0005829)	glucose-1,6-bisphosphate synthase activity (GO:0047933)|intramolecular transferase activity, phosphotransferases (GO:0016868)	p.L593L(1)		NS(2)|breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(11)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26	Breast(11;3.32e-06)					CTTCCTCCAGTAAAGCAGTGT	0.353																																						uc001ovb.1																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(1777-1779)TTA>TTG		phosphoglucomutase 2-like 1							97.0	88.0	91.0					11																	74047787		2200	4293	6493	SO:0001819	synonymous_variant	283209				glucose 1-phosphate metabolic process	cytosol	glucose-1,6-bisphosphate synthase activity|phosphoglucomutase activity	g.chr11:74047787T>C	AB019210	CCDS8231.1	11q13.3	2008-12-01			ENSG00000165434	ENSG00000165434			20898	protein-coding gene	gene with protein product	"""glucose-1,6-bisphosphate synthase"""	611610				17804405	Standard	NM_173582		Approved	FLJ32029, BM32A	uc001ovb.1	Q6PCE3	OTTHUMG00000168132	ENST00000298198.4:c.1779A>G	11.37:g.74047787T>C							p.L593L	NM_173582	NP_775853	Q6PCE3	PGM2L_HUMAN			14	2075	-	Breast(11;3.32e-06)		593					Q96MQ7|Q9UIK3	Silent	SNP	ENST00000298198.4	37	c.1779A>G	CCDS8231.1																																																																																				PASS	0.353	PGM2L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398324.1	NM_173582		29	61	29	61	---	---	---	---
PAK1	5058	broad.mit.edu	37	11	77091007	77091007	+	Missense_Mutation	SNP	T	T	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr11:77091007T>A	ENST00000356341.3	-	3	754	c.223A>T	c.(223-225)Att>Ttt	p.I75F	PAK1_ENST00000528203.1_5'UTR|PAK1_ENST00000278568.4_Missense_Mutation_p.I75F|PAK1_ENST00000530617.1_Missense_Mutation_p.I75F	NM_002576.4	NP_002567.3	Q13153	PAK1_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 1	75	Autoregulatory region.|CRIB. {ECO:0000255|PROSITE- ProRule:PRU00057}.|GTPase-binding.				actin cytoskeleton reorganization (GO:0031532)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|branching morphogenesis of an epithelial tube (GO:0048754)|cellular response to insulin stimulus (GO:0032869)|dendrite development (GO:0016358)|exocytosis (GO:0006887)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|negative regulation of cell proliferation involved in contact inhibition (GO:0060244)|neuromuscular junction development (GO:0007528)|neuron projection morphogenesis (GO:0048812)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of stress fiber assembly (GO:0051496)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|receptor clustering (GO:0043113)|response to hypoxia (GO:0001666)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|wound healing (GO:0042060)	axon (GO:0030424)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|growth cone (GO:0030426)|intercalated disc (GO:0014704)|nuclear membrane (GO:0031965)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|ruffle (GO:0001726)|Z disc (GO:0030018)	ATP binding (GO:0005524)|collagen binding (GO:0005518)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.I75F(2)		NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(13)|skin(2)|stomach(1)	29	all_cancers(14;1.75e-18)					GGGAGAGAAATCTCTGGCCGC	0.393																																						uc001oyh.3																			2	Substitution - Missense(2)		lung(2)	skin(2)|stomach(1)|lung(1)	4						c.(223-225)ATT>TTT		p21-activated kinase 1 isoform 2							95.0	95.0	95.0					11																	77091007		2200	4292	6492	SO:0001583	missense	5058				apoptosis|axon guidance|cytoskeleton organization|ER-nucleus signaling pathway|positive regulation of JUN kinase activity|positive regulation of peptidyl-serine phosphorylation|protein autophosphorylation|T cell costimulation|T cell receptor signaling pathway	cytosol|focal adhesion|Golgi apparatus	ATP binding|collagen binding|protein binding|protein serine/threonine kinase activity	g.chr11:77091007T>A	U51120	CCDS8250.1, CCDS44687.1	11q13-q14	2008-06-17	2008-06-17						8590	protein-coding gene	gene with protein product	"""STE20 homolog, yeast"""	602590	"""p21/Cdc42/Rac1-activated kinase 1 (yeast Ste20-related)"", ""p21/Cdc42/Rac1-activated kinase 1 (STE20 homolog, yeast)"""			8805275, 9533029	Standard	NM_002576		Approved		uc001oyg.4	Q13153		ENST00000356341.3:c.223A>T	11.37:g.77091007T>A	ENSP00000348696:p.Ile75Phe					PAK1_uc010rso.1_5'UTR|PAK1_uc001oyg.3_Missense_Mutation_p.I75F|PAK1_uc001oyi.1_Missense_Mutation_p.I75F	p.I75F	NM_002576	NP_002567	Q13153	PAK1_HUMAN			3	756	-	all_cancers(14;1.75e-18)		75			CRIB.|GTPase-binding (By similarity).|Autoregulatory region.		O75561|Q13567|Q32M53|Q32M54|Q86W79	Missense_Mutation	SNP	ENST00000356341.3	37	c.223A>T	CCDS8250.1	.	.	.	.	.	.	.	.	.	.	T	28.7	4.941680	0.92526	.	.	ENSG00000149269	ENST00000356341;ENST00000530617;ENST00000278568;ENST00000529248;ENST00000524847;ENST00000528592	D;D;D;D;D;D	0.96554	-4.05;-4.05;-4.05;-4.05;-4.05;-4.05	5.05	5.05	0.67936	PAK-box/P21-Rho-binding (3);	0.046285	0.85682	D	0.000000	D	0.98476	0.9492	M	0.92923	3.36	0.80722	D	1	D;D;D	0.89917	0.999;1.0;0.999	D;D;D	0.83275	0.992;0.996;0.992	D	0.99734	1.1013	10	0.87932	D	0	.	15.0794	0.72103	0.0:0.0:0.0:1.0	.	75;75;75	B3KNX7;Q13153;Q13153-2	.;PAK1_HUMAN;.	F	75	ENSP00000348696:I75F;ENSP00000433423:I75F;ENSP00000278568:I75F;ENSP00000433518:I75F;ENSP00000432477:I75F;ENSP00000433004:I75F	ENSP00000278568:I75F	I	-	1	0	PAK1	76768655	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	7.655000	0.83696	2.033000	0.60031	0.383000	0.25322	ATT		PASS	0.393	PAK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382083.2	NM_002576		23	74	23	74	---	---	---	---
PRCP	5547	broad.mit.edu	37	11	82536103	82536103	+	Missense_Mutation	SNP	C	C	G	rs557860002		TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr11:82536103C>G	ENST00000313010.3	-	9	1530	c.1336G>C	c.(1336-1338)Gtt>Ctt	p.V446L	PRCP_ENST00000393399.2_Missense_Mutation_p.V467L|PRCP_ENST00000525772.1_5'UTR|PRCP_ENST00000535099.1_Missense_Mutation_p.V341L	NM_005040.2	NP_005031.1	P42785	PCP_HUMAN	prolylcarboxypeptidase (angiotensinase C)	446					angiogenesis involved in wound healing (GO:0060055)|blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|energy homeostasis (GO:0097009)|glucose homeostasis (GO:0042593)|negative regulation of systemic arterial blood pressure (GO:0003085)|plasma kallikrein-kinin cascade (GO:0002353)|regulation of blood vessel endothelial cell migration (GO:0043535)|regulation of reactive oxygen species metabolic process (GO:2000377)|regulation of thyroid hormone mediated signaling pathway (GO:0002155)	basal part of cell (GO:0045178)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)|plasma membrane (GO:0005886)	serine-type carboxypeptidase activity (GO:0004185)	p.V467L(1)|p.V446L(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(7)|prostate(1)|skin(2)|urinary_tract(1)	17						GTGACTGCAACCAGAGTGTCT	0.473																																						uc001ozs.2																			2	Substitution - Missense(2)		lung(2)	skin(1)	1						c.(1336-1338)GTT>CTT		prolylcarboxypeptidase isoform 1 preproprotein							93.0	86.0	89.0					11																	82536103		2203	4300	6503	SO:0001583	missense	5547				blood coagulation, intrinsic pathway|proteolysis	lysosome|plasma membrane	protein binding|serine-type carboxypeptidase activity	g.chr11:82536103C>G	BC001500, BI827978, L13977	CCDS8262.1, CCDS41695.1	11q14	2005-10-04				ENSG00000137509			9344	protein-coding gene	gene with protein product		176785				8344943	Standard	NM_199418		Approved	PCP, HUMPCP	uc001ozr.3	P42785		ENST00000313010.3:c.1336G>C	11.37:g.82536103C>G	ENSP00000317362:p.Val446Leu					PRCP_uc001ozr.2_Missense_Mutation_p.V467L	p.V446L	NM_005040	NP_005031	P42785	PCP_HUMAN			9	1449	-			446					A8MU24|B2R7B7|B3KRK5|B5BU34	Missense_Mutation	SNP	ENST00000313010.3	37	c.1336G>C	CCDS8262.1	.	.	.	.	.	.	.	.	.	.	C	13.42	2.231039	0.39399	.	.	ENSG00000137509	ENST00000313010;ENST00000393399;ENST00000535099	D;D;D	0.92199	-2.99;-2.99;-2.99	5.37	1.11	0.20524	.	0.345511	0.30101	N	0.010411	D	0.84593	0.5506	L	0.42581	1.335	0.40063	D	0.975924	B;B	0.15473	0.013;0.004	B;B	0.23852	0.02;0.049	T	0.70506	-0.4853	9	.	.	.	-10.4016	2.3383	0.04253	0.1288:0.5191:0.1254:0.2267	.	446;467	P42785;A8MU24	PCP_HUMAN;.	L	446;467;341	ENSP00000317362:V446L;ENSP00000377055:V467L;ENSP00000442077:V341L	.	V	-	1	0	PRCP	82213751	0.258000	0.24033	0.990000	0.47175	0.966000	0.64601	0.325000	0.19628	0.196000	0.20367	0.467000	0.42956	GTT		PASS	0.473	PRCP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391792.1	NM_005040		16	35	16	35	---	---	---	---
DLG2	1740	broad.mit.edu	37	11	83585492	83585492	+	Missense_Mutation	SNP	C	C	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr11:83585492C>T	ENST00000532653.1	-	11	1523	c.1221G>A	c.(1219-1221)atG>atA	p.M407I	DLG2_ENST00000280241.8_Missense_Mutation_p.M446I|DLG2_ENST00000531015.1_Missense_Mutation_p.M374I|DLG2_ENST00000376104.2_Missense_Mutation_p.M512I|DLG2_ENST00000330014.6_Missense_Mutation_p.M346I|DLG2_ENST00000524982.1_Missense_Mutation_p.M407I|DLG2_ENST00000418306.2_Missense_Mutation_p.M304I|DLG2_ENST00000543673.1_Missense_Mutation_p.M512I|DLG2_ENST00000398309.2_Missense_Mutation_p.M407I|DLG2_ENST00000537455.1_Missense_Mutation_p.M161I|DLG2_ENST00000376106.3_5'UTR|DLG2_ENST00000398301.2_Missense_Mutation_p.M446I			Q14168	MPP2_HUMAN	discs, large homolog 2 (Drosophila)	0	Guanylate kinase-like. {ECO:0000255|PROSITE-ProRule:PRU00100}.				nucleotide phosphorylation (GO:0046939)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	guanylate kinase activity (GO:0004385)	p.M304I(1)|p.M407I(1)|p.M512I(1)|p.M446I(1)		breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(11)|lung(35)|ovary(3)|pancreas(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	71		all_cancers(6;0.00791)|Acute lymphoblastic leukemia(157;4.44e-05)|all_hematologic(158;0.0036)				GTTGGAGAGTCATTGAAGGCT	0.393																																						uc001paj.2																			4	Substitution - Missense(4)		lung(4)	ovary(3)|pancreas(2)|skin(1)	6						c.(1219-1221)ATG>ATA		chapsyn-110 isoform 2							88.0	93.0	91.0					11																	83585492		1920	4116	6036	SO:0001583	missense	1740					cell junction|postsynaptic density|postsynaptic membrane	guanylate kinase activity|protein binding|protein binding	g.chr11:83585492C>T	U32376	CCDS41696.1, CCDS44690.1, CCDS44691.1, CCDS44692.1, CCDS55782.1, CCDS73357.1	11q21	2012-04-17	2008-12-15		ENSG00000150672	ENSG00000150672		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	2901	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 58"""	603583	"""discs, large homolog 2, chapsyn-110 (Drosophila)"""			8755482, 9806853	Standard	NM_001142702		Approved	PSD-93, PSD93, chapsyn-110, PPP1R58	uc001pak.2	Q15700	OTTHUMG00000134309	ENST00000532653.1:c.1221G>A	11.37:g.83585492C>T	ENSP00000435849:p.Met407Ile					DLG2_uc001pai.2_Missense_Mutation_p.M304I|DLG2_uc010rsy.1_Missense_Mutation_p.M374I|DLG2_uc010rsz.1_Missense_Mutation_p.M407I|DLG2_uc010rta.1_Missense_Mutation_p.M407I|DLG2_uc001pak.2_Missense_Mutation_p.M512I|DLG2_uc010rtb.1_Missense_Mutation_p.M374I|DLG2_uc001pal.1_Missense_Mutation_p.M407I|DLG2_uc001pam.1_Missense_Mutation_p.M446I	p.M407I	NM_001364	NP_001355	Q15700	DLG2_HUMAN			11	1524	-		all_cancers(6;0.00791)|Acute lymphoblastic leukemia(157;4.44e-05)|all_hematologic(158;0.0036)	407					B4DGE9|B4DRJ0|B7Z3G8|E7EV80|E7EV91|E7EX01|Q53ES9|Q5CZB9|Q9BQJ2	Missense_Mutation	SNP	ENST00000532653.1	37	c.1221G>A		.	.	.	.	.	.	.	.	.	.	C	13.19	2.162443	0.38217	.	.	ENSG00000150672	ENST00000398309;ENST00000376104;ENST00000418306;ENST00000543673;ENST00000280241;ENST00000330014;ENST00000537455;ENST00000524982;ENST00000532653;ENST00000546021;ENST00000531015;ENST00000398301	T;T;T;T;T;T;T;T;T;T;T	0.50277	0.75;0.75;0.75;0.75;0.75;0.75;0.75;0.75;0.75;0.75;0.75	5.56	5.56	0.83823	PDZ/DHR/GLGF (1);	0.152578	0.29126	N	0.013064	T	0.28067	0.0692	N	0.08118	0	0.80722	D	1	B;B;B;B;B;B;B;B	0.06786	0.0;0.0;0.0;0.0;0.001;0.0;0.0;0.0	B;B;B;B;B;B;B;B	0.04013	0.0;0.0;0.0;0.0;0.0;0.001;0.0;0.0	T	0.11867	-1.0570	9	.	.	.	.	15.0198	0.71621	0.0:1.0:0.0:0.0	.	374;407;407;346;446;512;407;304	E9PIW2;B7Z2T4;E9PN83;B7Z264;Q6ZSU2;Q15700-2;Q15700;Q15700-3	.;.;.;.;.;.;DLG2_HUMAN;.	I	407;512;304;512;446;346;161;407;407;512;374;446	ENSP00000381355:M407I;ENSP00000365272:M512I;ENSP00000402275:M304I;ENSP00000441994:M512I;ENSP00000280241:M446I;ENSP00000381353:M346I;ENSP00000443248:M161I;ENSP00000432894:M407I;ENSP00000435849:M407I;ENSP00000433848:M374I;ENSP00000381346:M446I	.	M	-	3	0	DLG2	83263140	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	1.802000	0.38853	2.608000	0.88229	0.561000	0.74099	ATG		PASS	0.393	DLG2-009	NOVEL	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000259253.2	NM_001364		20	58	20	58	---	---	---	---
CCDC83	220047	broad.mit.edu	37	11	85630407	85630407	+	Missense_Mutation	SNP	G	G	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr11:85630407G>T	ENST00000342404.3	+	11	1312	c.1096G>T	c.(1096-1098)Ggc>Tgc	p.G366C	CCDC83_ENST00000280245.4_Missense_Mutation_p.G397C|CCDC83_ENST00000376067.1_Missense_Mutation_p.G266C|RP11-90K17.2_ENST00000531414.1_RNA			Q8IWF9	CCD83_HUMAN	coiled-coil domain containing 83	366								p.G397C(1)		breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(12)|skin(3)|upper_aerodigestive_tract(2)	29		Acute lymphoblastic leukemia(157;4.88e-06)|all_hematologic(158;0.00572)				TGTAAACTTGGGCCCCCTGGG	0.398																																						uc001pbh.1																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(1096-1098)GGC>TGC		coiled-coil domain containing 83							129.0	125.0	127.0					11																	85630407		2203	4299	6502	SO:0001583	missense	220047							g.chr11:85630407G>T	AK124113	CCDS8271.1, CCDS66196.1	11q14.1-q14.2	2014-01-21			ENSG00000150676	ENSG00000150676			28535	protein-coding gene	gene with protein product						12477932	Standard	XM_005273842		Approved	MGC34732, FLJ42119, CT148	uc001pbg.1	Q8IWF9	OTTHUMG00000166978	ENST00000342404.3:c.1096G>T	11.37:g.85630407G>T	ENSP00000344512:p.Gly366Cys					CCDC83_uc001pbg.1_Missense_Mutation_p.G397C|CCDC83_uc001pbi.1_RNA|CCDC83_uc001pbj.1_Missense_Mutation_p.G266C	p.G366C	NM_173556	NP_775827	Q8IWF9	CCD83_HUMAN			11	1608	+		Acute lymphoblastic leukemia(157;4.88e-06)|all_hematologic(158;0.00572)	366					B2RA49|Q6X7T2|Q6ZVT5|Q8N9Y1	Missense_Mutation	SNP	ENST00000342404.3	37	c.1096G>T		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	20.4|20.4	3.987315|3.987315	0.74589|0.74589	.|.	.|.	ENSG00000150676|ENSG00000150676	ENST00000280245;ENST00000376067;ENST00000342404|ENST00000526729	T;T;T|.	0.45276|.	0.9;0.9;0.9|.	5.62|5.62	5.62|5.62	0.85841|0.85841	.|.	0.000000|.	0.64402|.	D|.	0.000001|.	T|T	0.77143|0.77143	0.4087|0.4087	M|M	0.81239|0.81239	2.535|2.535	0.52501|0.52501	D|D	0.999958|0.999958	D;D;D|.	0.89917|.	1.0;1.0;1.0|.	D;D;D|.	0.97110|.	1.0;1.0;1.0|.	T|T	0.77501|0.77501	-0.2564|-0.2564	9|5	.|.	.|.	.|.	-16.5066|-16.5066	15.5281|15.5281	0.75928|0.75928	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	266;366;397|.	Q8IWF9-3;Q8IWF9;Q8IWF9-2|.	.;CCD83_HUMAN;.|.	C|C	397;266;366|270	ENSP00000280245:G397C;ENSP00000365235:G266C;ENSP00000344512:G366C|.	.|.	G|W	+|+	1|3	0|0	CCDC83|CCDC83	85308055|85308055	1.000000|1.000000	0.71417|0.71417	0.993000|0.993000	0.49108|0.49108	0.782000|0.782000	0.44232|0.44232	4.667000|4.667000	0.61561|0.61561	2.822000|2.822000	0.97130|0.97130	0.650000|0.650000	0.86243|0.86243	GGC|TGG		PASS	0.398	CCDC83-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000392215.1	NM_173556		43	109	43	109	---	---	---	---
FOLH1B	219595	broad.mit.edu	37	11	89424086	89424086	+	RNA	SNP	A	A	G			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr11:89424086A>G	ENST00000532352.1	+	0	1549							Q9HBA9	FOH1B_HUMAN	folate hydrolase 1B							cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	dipeptidase activity (GO:0016805)|metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)	p.S246G(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(26)|ovary(4)|skin(4)|urinary_tract(2)	48						ACTGTATCACAGTGTCTATGA	0.368																																						uc001pda.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|skin(2)|central_nervous_system(1)	6						c.(736-738)AGT>GGT		folate hydrolase 1B							39.0	46.0	44.0					11																	89424086		2201	4294	6495			219595				proteolysis	cytoplasm	dipeptidase activity|metal ion binding|metallopeptidase activity	g.chr11:89424086A>G	AF261715		11q14.3	2014-03-18			ENSG00000134612	ENSG00000134612			13636	protein-coding gene	gene with protein product	"""prostate specific membrane antigen like protein"", ""Cell growth-inhibiting gene 26 protein"", ""glutamate carboxypeptidase III"""	609020	"""folate hydrolase 2"""	FOLH2, FOLHP		9838072, 14716746	Standard	NM_153696		Approved	PSMAL, GCPIII	uc001pda.3	Q9HBA9	OTTHUMG00000167376		11.37:g.89424086A>G							p.S246G	NM_153696	NP_710163	Q9HBA9	FOH1B_HUMAN			11	1262	+			246						Missense_Mutation	SNP	ENST00000532352.1	37	c.736A>G																																																																																					PASS	0.368	FOLH1B-004	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000395421.1	NM_153696		24	60	24	60	---	---	---	---
NAALAD2	10003	broad.mit.edu	37	11	89896533	89896533	+	Missense_Mutation	SNP	C	C	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr11:89896533C>A	ENST00000534061.1	+	10	1361	c.1131C>A	c.(1129-1131)gaC>gaA	p.D377E	NAALAD2_ENST00000321955.4_Missense_Mutation_p.D344E|NAALAD2_ENST00000375944.3_Intron|NAALAD2_ENST00000525171.1_Missense_Mutation_p.D284E	NM_005467.3	NP_005458.1	Q9Y3Q0	NALD2_HUMAN	N-acetylated alpha-linked acidic dipeptidase 2	377	NAALADase.				neurotransmitter catabolic process (GO:0042135)|proteolysis (GO:0006508)	integral component of membrane (GO:0016021)	carboxypeptidase activity (GO:0004180)|dipeptidase activity (GO:0016805)|dipeptidyl-peptidase activity (GO:0008239)|metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)|N-formylglutamate deformylase activity (GO:0050129)|serine-type peptidase activity (GO:0008236)	p.D377E(1)		NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(12)|lung(32)|pancreas(1)|prostate(3)|skin(5)|stomach(2)	59		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00556)				GAGCTATTGACCCAACCAGTG	0.413																																						uc001pdf.3																			1	Substitution - Missense(1)		lung(1)	pancreas(1)|skin(1)	2						c.(1129-1131)GAC>GAA		N-acetylated alpha-linked acidic dipeptidase 2							118.0	126.0	123.0					11																	89896533		2201	4299	6500	SO:0001583	missense	10003				proteolysis	integral to membrane	carboxypeptidase activity|dipeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metallopeptidase activity|serine-type peptidase activity	g.chr11:89896533C>A	AJ012370	CCDS8288.1, CCDS73364.1	11q14.3-q21	2011-08-16			ENSG00000077616	ENSG00000077616	3.4.17.21		14526	protein-coding gene	gene with protein product	"""glutamate carboxypeptidase III"""	611636				10085079	Standard	NM_005467		Approved	NAALADASE2, NAADALASE2, GPCIII	uc001pdf.4	Q9Y3Q0	OTTHUMG00000166368	ENST00000534061.1:c.1131C>A	11.37:g.89896533C>A	ENSP00000432481:p.Asp377Glu					NAALAD2_uc009yvx.2_Missense_Mutation_p.D344E|NAALAD2_uc009yvy.2_Intron|NAALAD2_uc001pde.2_Missense_Mutation_p.D284E	p.D377E	NM_005467	NP_005458	Q9Y3Q0	NALD2_HUMAN			10	1240	+		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00556)	377			Extracellular (Potential).|NAALADase.	Zinc 2; catalytic.|Zinc 1.	B3KQR4|Q4KKV4|Q4VAM9	Missense_Mutation	SNP	ENST00000534061.1	37	c.1131C>A	CCDS8288.1	.	.	.	.	.	.	.	.	.	.	C	15.41	2.824929	0.50739	.	.	ENSG00000077616	ENST00000534061;ENST00000321955;ENST00000525171	D;D;D	0.90844	-2.74;-2.74;-2.74	5.51	2.53	0.30540	Peptidase M28 (1);	0.000000	0.85682	D	0.000000	D	0.95014	0.8386	M	0.89715	3.055	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.998	D	0.93788	0.7090	9	.	.	.	-20.3126	7.9396	0.29950	0.0:0.6005:0.0:0.3995	.	377;284	Q9Y3Q0;E9PKX5	NALD2_HUMAN;.	E	377;344;284	ENSP00000432481:D377E;ENSP00000320083:D344E;ENSP00000435249:D284E	.	D	+	3	2	NAALAD2	89536181	0.980000	0.34600	1.000000	0.80357	0.996000	0.88848	0.098000	0.15189	0.755000	0.32990	0.591000	0.81541	GAC		PASS	0.413	NAALAD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389424.2	NM_005467		61	186	61	186	---	---	---	---
FAT3	120114	broad.mit.edu	37	11	92088254	92088254	+	Silent	SNP	C	C	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr11:92088254C>A	ENST00000298047.6	+	1	2993	c.2976C>A	c.(2974-2976)atC>atA	p.I992I	FAT3_ENST00000541502.1_Silent_p.I992I|FAT3_ENST00000409404.2_Silent_p.I992I|FAT3_ENST00000525166.1_Silent_p.I842I			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	992	Cadherin 9. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)|multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.I992I(2)		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)				GTGGTGCCATCCGCTTGAGCA	0.463										TCGA Ovarian(4;0.039)																												uc001pdj.3																			2	Substitution - coding silent(2)		lung(2)	ovary(4)|pancreas(1)	5						c.(2974-2976)ATC>ATA		FAT tumor suppressor homolog 3							69.0	68.0	69.0					11																	92088254		1926	4118	6044	SO:0001819	synonymous_variant	120114				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding	g.chr11:92088254C>A	AB076400		11q14.3	2013-05-31	2013-05-31		ENSG00000165323	ENSG00000165323		"""Cadherins / Cadherin-related"""	23112	protein-coding gene	gene with protein product	"""cadherin-related family member 10"""	612483	"""FAT tumor suppressor homolog 3 (Drosophila)"""			11811999	Standard	NM_001008781		Approved	KIAA1989, CDHF15, CDHR10	uc001pdj.4	Q8TDW7	OTTHUMG00000154468	ENST00000298047.6:c.2976C>A	11.37:g.92088254C>A		TCGA Ovarian(4;0.039)					p.I992I	NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN			1	2993	+		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)	992			Cadherin 9.|Extracellular (Potential).		B5MDB0|Q96AU6	Silent	SNP	ENST00000298047.6	37	c.2976C>A																																																																																					PASS	0.463	FAT3-201	KNOWN	basic	protein_coding	protein_coding		NM_001008781		14	37	14	37	---	---	---	---
FAT3	120114	broad.mit.edu	37	11	92534453	92534453	+	Silent	SNP	A	A	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr11:92534453A>T	ENST00000298047.6	+	9	8291	c.8274A>T	c.(8272-8274)atA>atT	p.I2758I	FAT3_ENST00000409404.2_Silent_p.I2758I|FAT3_ENST00000525166.1_Silent_p.I2608I			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	2758	Cadherin 25. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)|multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.I2758I(2)		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)				TATTCGTCATAGAACAGGAAA	0.478										TCGA Ovarian(4;0.039)																												uc001pdj.3																			2	Substitution - coding silent(2)		lung(2)	ovary(4)|pancreas(1)	5						c.(8272-8274)ATA>ATT		FAT tumor suppressor homolog 3							62.0	60.0	60.0					11																	92534453		1923	4125	6048	SO:0001819	synonymous_variant	120114				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding	g.chr11:92534453A>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.8274A>T	11.37:g.92534453A>T		TCGA Ovarian(4;0.039)					p.I2758I	NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN			9	8291	+		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)	2758			Extracellular (Potential).|Cadherin 25.		B5MDB0|Q96AU6	Silent	SNP	ENST00000298047.6	37	c.8274A>T																																																																																					PASS	0.478	FAT3-201	KNOWN	basic	protein_coding	protein_coding		NM_001008781		13	37	13	37	---	---	---	---
FAT3	120114	broad.mit.edu	37	11	92564924	92564924	+	Silent	SNP	G	G	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr11:92564924G>T	ENST00000298047.6	+	13	9635	c.9618G>T	c.(9616-9618)cgG>cgT	p.R3206R	FAT3_ENST00000409404.2_Silent_p.R3206R|FAT3_ENST00000525166.1_Silent_p.R3056R			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	3206	Cadherin 29. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)|multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.R3206R(2)		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)				TCAGCGTGCGGGCCACTGACC	0.562										TCGA Ovarian(4;0.039)																												uc001pdj.3																			2	Substitution - coding silent(2)		lung(2)	ovary(4)|pancreas(1)	5						c.(9616-9618)CGG>CGT		FAT tumor suppressor homolog 3							77.0	83.0	81.0					11																	92564924		2159	4264	6423	SO:0001819	synonymous_variant	120114				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding	g.chr11:92564924G>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.9618G>T	11.37:g.92564924G>T		TCGA Ovarian(4;0.039)					p.R3206R	NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN			13	9635	+		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)	3206			Cadherin 29.|Extracellular (Potential).		B5MDB0|Q96AU6	Silent	SNP	ENST00000298047.6	37	c.9618G>T																																																																																					PASS	0.562	FAT3-201	KNOWN	basic	protein_coding	protein_coding		NM_001008781		6	16	6	16	---	---	---	---
FAT3	120114	broad.mit.edu	37	11	92577660	92577660	+	Missense_Mutation	SNP	C	C	G			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr11:92577660C>G	ENST00000298047.6	+	18	11144	c.11127C>G	c.(11125-11127)agC>agG	p.S3709R	FAT3_ENST00000533797.1_Missense_Mutation_p.S44R|FAT3_ENST00000409404.2_Missense_Mutation_p.S3709R|FAT3_ENST00000525166.1_Missense_Mutation_p.S3559R			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	3709					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.S3709R(2)|p.S284R(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)				AGATGCACAGCAGCGAGTTCT	0.547										TCGA Ovarian(4;0.039)																												uc001pdj.3																			3	Substitution - Missense(3)		lung(3)	ovary(4)|pancreas(1)	5						c.(11125-11127)AGC>AGG		FAT tumor suppressor homolog 3							54.0	56.0	55.0					11																	92577660		2148	4252	6400	SO:0001583	missense	120114				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding	g.chr11:92577660C>G	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.11127C>G	11.37:g.92577660C>G	ENSP00000298047:p.Ser3709Arg	TCGA Ovarian(4;0.039)				FAT3_uc001pdi.3_Missense_Mutation_p.S149R	p.S3709R	NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN			18	11144	+		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)	3709			Extracellular (Potential).		B5MDB0|Q96AU6	Missense_Mutation	SNP	ENST00000298047.6	37	c.11127C>G		.	.	.	.	.	.	.	.	.	.	C	12.83	2.055971	0.36277	.	.	ENSG00000165323	ENST00000298047;ENST00000409404;ENST00000525166;ENST00000533797	T;T;T;T	0.57273	0.41;0.41;0.41;0.41	5.97	3.78	0.43462	.	.	.	.	.	T	0.42675	0.1213	L	0.48642	1.525	0.80722	D	1	B;B	0.32573	0.376;0.003	B;B	0.30105	0.111;0.007	T	0.27468	-1.0073	9	0.15952	T	0.53	.	13.5771	0.61881	0.0:0.8539:0.0:0.1461	.	3709;3709	Q8TDW7-3;Q8TDW7	.;FAT3_HUMAN	R	3709;3709;3559;44	ENSP00000298047:S3709R;ENSP00000387040:S3709R;ENSP00000432586:S3559R;ENSP00000436399:S44R	ENSP00000298047:S3709R	S	+	3	2	FAT3	92217308	0.181000	0.23161	0.983000	0.44433	0.887000	0.51463	0.209000	0.17435	1.522000	0.49001	0.655000	0.94253	AGC		PASS	0.547	FAT3-201	KNOWN	basic	protein_coding	protein_coding		NM_001008781		3	14	3	14	---	---	---	---
MTMR2	8898	broad.mit.edu	37	11	95595495	95595495	+	Missense_Mutation	SNP	C	C	A	rs370701984	byFrequency	TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr11:95595495C>A	ENST00000346299.5	-	4	638	c.298G>T	c.(298-300)Gct>Tct	p.A100S	MTMR2_ENST00000409459.1_Missense_Mutation_p.A28S|MTMR2_ENST00000352297.7_Missense_Mutation_p.A28S|MTMR2_ENST00000393223.3_Missense_Mutation_p.A28S|MTMR2_ENST00000484818.1_5'UTR	NM_016156.5	NP_057240.3	Q13614	MTMR2_HUMAN	myotubularin related protein 2	100	GRAM.				cell death (GO:0008219)|dendritic spine maintenance (GO:0097062)|inositol phosphate dephosphorylation (GO:0046855)|myelin assembly (GO:0032288)|negative regulation of endocytosis (GO:0045806)|negative regulation of excitatory postsynaptic membrane potential (GO:0090394)|negative regulation of myelination (GO:0031642)|negative regulation of receptor catabolic process (GO:2000645)|negative regulation of receptor internalization (GO:0002091)|neuron development (GO:0048666)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|positive regulation of early endosome to late endosome transport (GO:2000643)|protein dephosphorylation (GO:0006470)|protein tetramerization (GO:0051262)|small molecule metabolic process (GO:0044281)	axon (GO:0030424)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|endosome (GO:0005768)|neuronal postsynaptic density (GO:0097481)|nucleus (GO:0005634)|synaptic membrane (GO:0097060)|synaptic vesicle (GO:0008021)|vacuolar membrane (GO:0005774)	phosphatidylinositol-3,5-bisphosphate 3-phosphatase activity (GO:0052629)|phosphatidylinositol-3-phosphatase activity (GO:0004438)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.A100S(1)|p.A28S(1)		autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	19		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				CCTCGTACAGCGCCAGTGAAT	0.363																																						uc001pfu.2																			2	Substitution - Missense(2)		lung(2)	pancreas(1)	1						c.(298-300)GCT>TCT		myotubularin-related protein 2 isoform 1							72.0	71.0	72.0					11																	95595495		2201	4298	6499	SO:0001583	missense	8898					nucleus	inositol or phosphatidylinositol phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr11:95595495C>A	U58033	CCDS8305.1, CCDS8306.1	11q22	2014-09-17			ENSG00000087053	ENSG00000087053		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"""	7450	protein-coding gene	gene with protein product		603557		CMT4B		8640223, 9736772	Standard	NM_016156		Approved	KIAA1073	uc001pfu.3	Q13614	OTTHUMG00000153837	ENST00000346299.5:c.298G>T	11.37:g.95595495C>A	ENSP00000345752:p.Ala100Ser					MTMR2_uc001pfv.2_Missense_Mutation_p.A28S|MTMR2_uc001pfs.2_Missense_Mutation_p.A28S|MTMR2_uc001pft.2_Missense_Mutation_p.A28S|MTMR2_uc010ruj.1_Missense_Mutation_p.A83S	p.A100S	NM_016156	NP_057240	Q13614	MTMR2_HUMAN			4	551	-		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)	100			GRAM.		A6NN98|Q9UPS9	Missense_Mutation	SNP	ENST00000346299.5	37	c.298G>T	CCDS8305.1	.	.	.	.	.	.	.	.	.	.	C	19.67	3.871484	0.72065	.	.	ENSG00000087053	ENST00000346299;ENST00000393223;ENST00000409459;ENST00000352297;ENST00000444541;ENST00000546018	D;D;D;D;D	0.86366	-2.11;-2.11;-2.11;-2.11;-2.11	5.8	5.8	0.92144	GRAM (2);	0.194521	0.53938	D	0.000044	D	0.87018	0.6073	M	0.62723	1.935	0.53005	D	0.999968	B;B	0.13594	0.008;0.004	B;B	0.26693	0.072;0.03	T	0.81519	-0.0896	10	0.21540	T	0.41	.	20.062	0.97678	0.0:1.0:0.0:0.0	.	100;100	A8K5G2;Q13614	.;MTMR2_HUMAN	S	100;28;28;28;28;83	ENSP00000345752:A100S;ENSP00000376915:A28S;ENSP00000386882:A28S;ENSP00000343737:A28S;ENSP00000396020:A28S	ENSP00000345752:A100S	A	-	1	0	MTMR2	95235143	1.000000	0.71417	1.000000	0.80357	0.943000	0.58893	3.476000	0.53143	2.730000	0.93505	0.563000	0.77884	GCT		PASS	0.363	MTMR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000332620.1	NM_016156		20	51	20	51	---	---	---	---
PGR	5241	broad.mit.edu	37	11	100933286	100933287	+	Nonsense_Mutation	DNP	CT	CT	AA			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr11:100933286_100933287CT>AA	ENST00000325455.5	-	4	3556_3557	c.2103_2104AG>TT	c.(2101-2106)gcAGga>gcTTga	p.G702*	PGR_ENST00000263463.5_Intron|PGR_ENST00000534013.1_Nonsense_Mutation_p.G108*	NM_000926.4|NM_001202474.1|NM_001271162.1	NP_000917.3|NP_001189403.1|NP_001258091.1	P06401	PRGR_HUMAN	progesterone receptor	702	Steroid-binding.				cell-cell signaling (GO:0007267)|epithelial cell maturation (GO:0002070)|gene expression (GO:0010467)|negative regulation of gene expression (GO:0010629)|ovulation from ovarian follicle (GO:0001542)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|progesterone receptor signaling pathway (GO:0050847)|regulation of epithelial cell proliferation (GO:0050678)|signal transduction (GO:0007165)|tertiary branching involved in mammary gland duct morphogenesis (GO:0060748)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mitochondrial outer membrane (GO:0005741)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|enzyme binding (GO:0019899)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|receptor binding (GO:0005102)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|steroid binding (GO:0005496)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)	p.G702*(2)|p.A701A(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|liver(1)|lung(18)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	36		Acute lymphoblastic leukemia(157;0.000885)|all_hematologic(158;0.014)		LUSC - Lung squamous cell carcinoma(1;0.0387)|BRCA - Breast invasive adenocarcinoma(274;0.124)|OV - Ovarian serous cystadenocarcinoma(223;0.148)|Lung(307;0.164)	Allylestrenol(DB01431)|Danazol(DB01406)|Desogestrel(DB00304)|Drospirenone(DB01395)|Dydrogesterone(DB00378)|Ethynodiol(DB00823)|Etonogestrel(DB00294)|Fluticasone Propionate(DB00588)|Levonorgestrel(DB00367)|Medroxyprogesterone Acetate(DB00603)|Megestrol acetate(DB00351)|Mifepristone(DB00834)|Norelgestromin(DB06713)|Norethindrone(DB00717)|Norgestimate(DB00957)|Progesterone(DB00396)|Spironolactone(DB00421)	TTGTCATGTCCTGCATAGATCA	0.431																																					Pancreas(124;2271 2354 21954 22882)	uc001pgh.2																			3	Substitution - Nonsense(2)|Substitution - coding silent(1)		lung(3)	lung(1)|liver(1)|central_nervous_system(1)|pancreas(1)	4						c.(2104-2106)GGA>TGA|c.(2101-2103)GCA>GCT		progesterone receptor	Desogestrel(DB00304)|Drospirenone(DB01395)|Dydrogesterone(DB00378)|Ethynodiol Diacetate(DB00823)|Etonogestrel(DB00294)|Levonorgestrel(DB00367)|Medroxyprogesterone(DB00603)|Megestrol(DB00351)|Mifepristone(DB00834)|Norethindrone(DB00717)|Norgestimate(DB00957)|Norgestrel(DB00506)|Progesterone(DB00396)																																			SO:0001587	stop_gained	5241				cell-cell signaling|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	cytoplasm|nucleoplasm	enzyme binding|receptor binding|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding	g.chr11:100933286C>A|g.chr11:100933287T>A	M15716	CCDS8310.1, CCDS59229.1	11q22-q23	2013-01-16			ENSG00000082175	ENSG00000082175		"""Nuclear hormone receptors"""	8910	protein-coding gene	gene with protein product		607311					Standard	NM_000926		Approved	PR, NR3C3	uc001pgh.2	P06401	OTTHUMG00000167531	ENST00000325455.5:c.2103_2104delinsAA	11.37:g.100933286_100933287delinsAA	ENSP00000325120:p.Gly702*					PGR_uc001pgg.2_Nonsense_Mutation_p.G83*|PGR_uc001pgi.2_Intron|PGR_uc009yww.1_Intron|PGR_uc001pgj.2_RNA|PGR_uc009ywx.1_RNA|PGR_uc001pgg.2_Silent_p.A82A|PGR_uc001pgi.2_Intron|PGR_uc009yww.1_Intron|PGR_uc001pgj.2_RNA|PGR_uc009ywx.1_RNA	p.G702*|p.A701A	NM_000926	NP_000917	P06401	PRGR_HUMAN		LUSC - Lung squamous cell carcinoma(1;0.0387)|BRCA - Breast invasive adenocarcinoma(274;0.124)|OV - Ovarian serous cystadenocarcinoma(223;0.148)|Lung(307;0.164)	4	2847|2846	-		Acute lymphoblastic leukemia(157;0.000885)|all_hematologic(158;0.014)	702|701			Steroid-binding.		A7LQ08|A7X8B0|B4E3T0|Q8TDS3|Q9UPF7	Nonsense_Mutation|Silent	SNP	ENST00000325455.5	37	c.2104G>T|c.2103A>T	CCDS8310.1																																																																																				PASS	0.431	PGR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394934.1			57|58	211|209	57	209	---	---	---	---
PGR	5241	broad.mit.edu	37	11	100999141	100999141	+	Missense_Mutation	SNP	C	C	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr11:100999141C>A	ENST00000325455.5	-	1	2114	c.661G>T	c.(661-663)Gtt>Ttt	p.V221F	PGR_ENST00000263463.5_Missense_Mutation_p.V221F|PGR_ENST00000534013.1_Intron	NM_000926.4|NM_001202474.1|NM_001271162.1	NP_000917.3|NP_001189403.1|NP_001258091.1	P06401	PRGR_HUMAN	progesterone receptor	221	Modulating, Pro-Rich.				cell-cell signaling (GO:0007267)|epithelial cell maturation (GO:0002070)|gene expression (GO:0010467)|negative regulation of gene expression (GO:0010629)|ovulation from ovarian follicle (GO:0001542)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|progesterone receptor signaling pathway (GO:0050847)|regulation of epithelial cell proliferation (GO:0050678)|signal transduction (GO:0007165)|tertiary branching involved in mammary gland duct morphogenesis (GO:0060748)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mitochondrial outer membrane (GO:0005741)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|enzyme binding (GO:0019899)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|receptor binding (GO:0005102)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|steroid binding (GO:0005496)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)	p.V221F(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|liver(1)|lung(18)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	36		Acute lymphoblastic leukemia(157;0.000885)|all_hematologic(158;0.014)		LUSC - Lung squamous cell carcinoma(1;0.0387)|BRCA - Breast invasive adenocarcinoma(274;0.124)|OV - Ovarian serous cystadenocarcinoma(223;0.148)|Lung(307;0.164)	Allylestrenol(DB01431)|Danazol(DB01406)|Desogestrel(DB00304)|Drospirenone(DB01395)|Dydrogesterone(DB00378)|Ethynodiol(DB00823)|Etonogestrel(DB00294)|Fluticasone Propionate(DB00588)|Levonorgestrel(DB00367)|Medroxyprogesterone Acetate(DB00603)|Megestrol acetate(DB00351)|Mifepristone(DB00834)|Norelgestromin(DB06713)|Norethindrone(DB00717)|Norgestimate(DB00957)|Progesterone(DB00396)|Spironolactone(DB00421)	TCCTCCTCAACCTCCACCGCA	0.711																																					Pancreas(124;2271 2354 21954 22882)	uc001pgh.2																			1	Substitution - Missense(1)		lung(1)	lung(1)|liver(1)|central_nervous_system(1)|pancreas(1)	4						c.(661-663)GTT>TTT		progesterone receptor	Desogestrel(DB00304)|Drospirenone(DB01395)|Dydrogesterone(DB00378)|Ethynodiol Diacetate(DB00823)|Etonogestrel(DB00294)|Levonorgestrel(DB00367)|Medroxyprogesterone(DB00603)|Megestrol(DB00351)|Mifepristone(DB00834)|Norethindrone(DB00717)|Norgestimate(DB00957)|Norgestrel(DB00506)|Progesterone(DB00396)						11.0	14.0	13.0					11																	100999141		2160	4267	6427	SO:0001583	missense	5241				cell-cell signaling|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	cytoplasm|nucleoplasm	enzyme binding|receptor binding|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding	g.chr11:100999141C>A	M15716	CCDS8310.1, CCDS59229.1	11q22-q23	2013-01-16			ENSG00000082175	ENSG00000082175		"""Nuclear hormone receptors"""	8910	protein-coding gene	gene with protein product		607311					Standard	NM_000926		Approved	PR, NR3C3	uc001pgh.2	P06401	OTTHUMG00000167531	ENST00000325455.5:c.661G>T	11.37:g.100999141C>A	ENSP00000325120:p.Val221Phe					PGR_uc001pgi.2_Missense_Mutation_p.V221F|PGR_uc009yww.1_RNA|PGR_uc001pgj.2_RNA|PGR_uc009ywx.1_RNA|uc010rum.1_5'Flank	p.V221F	NM_000926	NP_000917	P06401	PRGR_HUMAN		LUSC - Lung squamous cell carcinoma(1;0.0387)|BRCA - Breast invasive adenocarcinoma(274;0.124)|OV - Ovarian serous cystadenocarcinoma(223;0.148)|Lung(307;0.164)	1	1404	-		Acute lymphoblastic leukemia(157;0.000885)|all_hematologic(158;0.014)	221			Modulating, Pro-Rich.		A7LQ08|A7X8B0|B4E3T0|Q8TDS3|Q9UPF7	Missense_Mutation	SNP	ENST00000325455.5	37	c.661G>T	CCDS8310.1	.	.	.	.	.	.	.	.	.	.	C	12.49	1.954806	0.34471	.	.	ENSG00000082175	ENST00000325455;ENST00000263463;ENST00000537623	T;T	0.09350	2.99;2.99	4.44	1.32	0.21799	.	1.024320	0.07809	N	0.957835	T	0.12305	0.0299	M	0.67953	2.075	0.09310	N	1	B;B	0.10296	0.003;0.003	B;B	0.11329	0.006;0.006	T	0.37291	-0.9712	10	0.41790	T	0.15	.	3.5698	0.07913	0.1574:0.4431:0.3072:0.0922	.	221;221	Q8TDS3;P06401	.;PRGR_HUMAN	F	221	ENSP00000325120:V221F;ENSP00000263463:V221F	ENSP00000263463:V221F	V	-	1	0	PGR	100504351	0.086000	0.21541	0.002000	0.10522	0.513000	0.34164	1.435000	0.34969	0.319000	0.23209	0.561000	0.74099	GTT		PASS	0.711	PGR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394934.1			3	12	3	12	---	---	---	---
MMP20	9313	broad.mit.edu	37	11	102477371	102477371	+	Missense_Mutation	SNP	G	G	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr11:102477371G>T	ENST00000260228.2	-	6	860	c.848C>A	c.(847-849)cCc>cAc	p.P283H	MMP20_ENST00000544938.1_5'UTR|RP11-817J15.2_ENST00000542119.1_RNA|RP11-817J15.2_ENST00000544115.1_RNA	NM_004771.3	NP_004762.2	Q9NPA2	MMP25_HUMAN	matrix metallopeptidase 20	302					hard palate development (GO:0060022)|inflammatory response (GO:0006954)|proteolysis (GO:0006508)	anchored component of membrane (GO:0031225)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.P283H(1)		endometrium(1)|kidney(4)|large_intestine(3)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27	all_cancers(8;8.95e-05)|all_epithelial(12;0.00227)|Lung NSC(15;0.139)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0033)	Epithelial(9;0.0216)|Lung(13;0.0711)|all cancers(10;0.0889)|LUSC - Lung squamous cell carcinoma(19;0.13)	BRCA - Breast invasive adenocarcinoma(274;0.0161)	Marimastat(DB00786)	GGGGGCATGGGGCAGAGTGGG	0.522																																						uc001phc.2																			1	Substitution - Missense(1)		lung(1)	urinary_tract(1)|skin(1)	2						c.(847-849)CCC>CAC		matrix metalloproteinase 20 preproprotein							116.0	112.0	113.0					11																	102477371		2203	4299	6502	SO:0001583	missense	9313				proteolysis|regulation of enamel mineralization	extracellular space|proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|protein binding|zinc ion binding	g.chr11:102477371G>T	Y12779	CCDS8318.1	11q22.3	2008-05-22	2008-05-22			ENSG00000137674			7167	protein-coding gene	gene with protein product	"""enamelysin"""	604629	"""matrix metalloproteinase 20 (enamelysin)"""			9398237	Standard	NM_004771		Approved		uc001phc.3	O60882		ENST00000260228.2:c.848C>A	11.37:g.102477371G>T	ENSP00000260228:p.Pro283His						p.P283H	NM_004771	NP_004762	O60882	MMP20_HUMAN	Epithelial(9;0.0216)|Lung(13;0.0711)|all cancers(10;0.0889)|LUSC - Lung squamous cell carcinoma(19;0.13)	BRCA - Breast invasive adenocarcinoma(274;0.0161)	6	861	-	all_cancers(8;8.95e-05)|all_epithelial(12;0.00227)|Lung NSC(15;0.139)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0033)	283					D3DUA8|Q9H3Q0	Missense_Mutation	SNP	ENST00000260228.2	37	c.848C>A	CCDS8318.1	.	.	.	.	.	.	.	.	.	.	G	14.19	2.461992	0.43736	.	.	ENSG00000137674	ENST00000260228	T	0.16897	2.31	5.45	5.45	0.79879	.	0.285235	0.35677	N	0.003058	T	0.29158	0.0725	L	0.46157	1.445	0.33750	D	0.620472	D	0.62365	0.991	P	0.52909	0.713	T	0.20338	-1.0278	10	0.87932	D	0	.	18.2333	0.89941	0.0:0.0:1.0:0.0	.	283	O60882	MMP20_HUMAN	H	283	ENSP00000260228:P283H	ENSP00000260228:P283H	P	-	2	0	MMP20	101982581	1.000000	0.71417	0.410000	0.26471	0.058000	0.15608	4.004000	0.57068	2.835000	0.97688	0.650000	0.86243	CCC		PASS	0.522	MMP20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398012.1			8	47	8	47	---	---	---	---
DDI1	414301	broad.mit.edu	37	11	103908673	103908673	+	Missense_Mutation	SNP	G	G	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr11:103908673G>A	ENST00000302259.3	+	1	1366	c.1123G>A	c.(1123-1125)Ggg>Agg	p.G375R	PDGFD_ENST00000393158.2_Intron|PDGFD_ENST00000302251.5_Intron	NM_001001711.2	NP_001001711.1	Q8WTU0	DDI1_HUMAN	DNA-damage inducible 1 homolog 1 (S. cerevisiae)	375							aspartic-type endopeptidase activity (GO:0004190)	p.G375R(2)		central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(12)|liver(2)|lung(21)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	52		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00648)|Melanoma(852;0.055)|all_neural(303;0.164)		BRCA - Breast invasive adenocarcinoma(274;0.00128)|Epithelial(105;0.0631)|all cancers(92;0.169)		GATGGTAAGTGGGCAAGATGA	0.443																																						uc001phr.2																			2	Substitution - Missense(2)		lung(2)	large_intestine(3)|upper_aerodigestive_tract(1)|pancreas(1)	5						c.(1123-1125)GGG>AGG		DDI1, DNA-damage inducible 1, homolog 1							63.0	63.0	63.0					11																	103908673		2202	4299	6501	SO:0001583	missense	414301				proteolysis		aspartic-type endopeptidase activity	g.chr11:103908673G>A		CCDS31660.1	11q22.3	2010-05-04	2010-05-04			ENSG00000170967			18961	protein-coding gene	gene with protein product			"""DDI1, DNA-damage inducible 1, homolog 1 (S. cerevisiae)"""				Standard	NM_001001711		Approved	FLJ36017	uc001phr.2	Q8WTU0		ENST00000302259.3:c.1123G>A	11.37:g.103908673G>A	ENSP00000302805:p.Gly375Arg					PDGFD_uc001php.2_Intron|PDGFD_uc001phq.2_Intron	p.G375R	NM_001001711	NP_001001711	Q8WTU0	DDI1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.00128)|Epithelial(105;0.0631)|all cancers(92;0.169)	1	1366	+		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00648)|Melanoma(852;0.055)|all_neural(303;0.164)	375					Q7Z4U6|Q8WTS3	Missense_Mutation	SNP	ENST00000302259.3	37	c.1123G>A	CCDS31660.1	.	.	.	.	.	.	.	.	.	.	G	14.81	2.647720	0.47258	.	.	ENSG00000170967	ENST00000302259	T	0.23754	1.89	4.97	4.97	0.65823	.	0.186662	0.46145	D	0.000311	T	0.49898	0.1584	M	0.76838	2.35	0.29683	N	0.841518	D	0.71674	0.998	D	0.68943	0.961	T	0.46735	-0.9170	10	0.27785	T	0.31	-0.5787	16.1454	0.81562	0.0:0.0:1.0:0.0	.	375	Q8WTU0	DDI1_HUMAN	R	375	ENSP00000302805:G375R	ENSP00000302805:G375R	G	+	1	0	DDI1	103413883	0.954000	0.32549	0.032000	0.17829	0.004000	0.04260	2.769000	0.47654	2.769000	0.95229	0.655000	0.94253	GGG		PASS	0.443	DDI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387326.1	NM_001001711		23	54	23	54	---	---	---	---
CUL5	8065	broad.mit.edu	37	11	107966404	107966404	+	Missense_Mutation	SNP	A	A	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr11:107966404A>T	ENST00000393094.2	+	16	2507	c.1891A>T	c.(1891-1893)Agg>Tgg	p.R631W		NM_003478.3	NP_003469.2	Q93034	CUL5_HUMAN	cullin 5	631					calcium ion transmembrane transport (GO:0070588)|cell cycle arrest (GO:0007050)|cell proliferation (GO:0008283)|cytosolic calcium ion homeostasis (GO:0051480)|G1/S transition of mitotic cell cycle (GO:0000082)|intrinsic apoptotic signaling pathway (GO:0097193)|negative regulation of cell proliferation (GO:0008285)|protein ubiquitination (GO:0016567)|response to osmotic stress (GO:0006970)|ubiquitin-dependent protein catabolic process (GO:0006511)|viral process (GO:0016032)	Cul5-RING ubiquitin ligase complex (GO:0031466)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)|receptor activity (GO:0004872)|ubiquitin protein ligase binding (GO:0031625)	p.R631W(1)		endometrium(2)|kidney(1)|large_intestine(8)|lung(9)|ovary(1)|prostate(1)|skin(1)	23		all_cancers(61;7.09e-10)|all_epithelial(67;2.97e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|Melanoma(852;4.48e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		BRCA - Breast invasive adenocarcinoma(274;3.58e-05)|Epithelial(105;4.68e-05)|all cancers(92;0.00122)|OV - Ovarian serous cystadenocarcinoma(223;0.217)		TGCTGAACTTAGGAGGACTTT	0.363																																						uc001pjv.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1891-1893)AGG>TGG		Vasopressin-activated calcium-mobilizing							116.0	118.0	117.0					11																	107966404		2201	4298	6499	SO:0001583	missense	8065				cell cycle arrest|cell proliferation|G1/S transition of mitotic cell cycle|induction of apoptosis by intracellular signals|interspecies interaction between organisms|negative regulation of cell proliferation|ubiquitin-dependent protein catabolic process|viral reproduction	cullin-RING ubiquitin ligase complex|cytosol	calcium channel activity|receptor activity|ubiquitin protein ligase binding	g.chr11:107966404A>T	X81882	CCDS31668.1	11q22.3	2011-05-24			ENSG00000166266	ENSG00000166266			2556	protein-coding gene	gene with protein product		601741				8681378, 9037604	Standard	XM_005271682		Approved	VACM-1	uc001pjv.3	Q93034	OTTHUMG00000166369	ENST00000393094.2:c.1891A>T	11.37:g.107966404A>T	ENSP00000376808:p.Arg631Trp					CUL5_uc001pju.2_RNA	p.R631W	NM_003478	NP_003469	Q93034	CUL5_HUMAN		BRCA - Breast invasive adenocarcinoma(274;3.58e-05)|Epithelial(105;4.68e-05)|all cancers(92;0.00122)|OV - Ovarian serous cystadenocarcinoma(223;0.217)	16	2558	+		all_cancers(61;7.09e-10)|all_epithelial(67;2.97e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|Melanoma(852;4.48e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)	631					A8K960|O14766|Q9BZC6	Missense_Mutation	SNP	ENST00000393094.2	37	c.1891A>T	CCDS31668.1	.	.	.	.	.	.	.	.	.	.	A	19.61	3.859575	0.71834	.	.	ENSG00000166266	ENST00000393094	T	0.75050	-0.9	5.42	2.94	0.34122	Cullin, N-terminal (1);Winged helix-turn-helix transcription repressor DNA-binding (1);Cullin homology (2);	0.000000	0.85682	D	0.000000	D	0.86062	0.5843	M	0.84511	2.7	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.87618	0.2508	10	0.66056	D	0.02	-13.9981	12.7731	0.57432	0.7404:0.2596:0.0:0.0	.	631	Q93034	CUL5_HUMAN	W	631	ENSP00000376808:R631W	ENSP00000376808:R631W	R	+	1	2	CUL5	107471614	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	2.267000	0.43329	0.996000	0.38943	0.533000	0.62120	AGG		PASS	0.363	CUL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389429.1			31	131	31	131	---	---	---	---
NPAT	4863	broad.mit.edu	37	11	108047022	108047022	+	Silent	SNP	T	T	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr11:108047022T>A	ENST00000278612.8	-	12	1188	c.1083A>T	c.(1081-1083)gcA>gcT	p.A361A	NPAT_ENST00000610253.1_5'UTR	NM_002519.2	NP_002510.2	Q14207	NPAT_HUMAN	nuclear protein, ataxia-telangiectasia locus	361					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.A361A(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)		TAGTTTCATCTGCTAAGACTA	0.289																																						uc001pjz.3																			1	Substitution - coding silent(1)		lung(1)	ovary(2)	2						c.(1081-1083)GCA>GCT		nuclear protein,  ataxia-telangiectasia locus							71.0	68.0	69.0					11																	108047022		1791	4056	5847	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.chr11:108047022T>A	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.1083A>T	11.37:g.108047022T>A						NPAT_uc001pka.2_Silent_p.A156A	p.A361A	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)	12	1185	-		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)	361					A8K1V5|A8K6M2|Q13632|Q14967|Q16580|Q86W55|Q8IWE9	Silent	SNP	ENST00000278612.8	37	c.1083A>T	CCDS41710.1																																																																																				PASS	0.289	NPAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389506.2	NM_002519		22	75	22	75	---	---	---	---
ATM	472	broad.mit.edu	37	11	108168091	108168091	+	Missense_Mutation	SNP	G	G	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr11:108168091G>T	ENST00000452508.2	+	34	5176	c.4987G>T	c.(4987-4989)Ggt>Tgt	p.G1663C	ATM_ENST00000278616.4_Missense_Mutation_p.G1663C			Q13315	ATM_HUMAN	ATM serine/threonine kinase	1663					brain development (GO:0007420)|cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|DNA damage induced protein phosphorylation (GO:0006975)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|heart development (GO:0007507)|histone mRNA catabolic process (GO:0071044)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|lipoprotein catabolic process (GO:0042159)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of B cell proliferation (GO:0030889)|neuron apoptotic process (GO:0051402)|oocyte development (GO:0048599)|peptidyl-serine phosphorylation (GO:0018105)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|positive regulation of apoptotic process (GO:0043065)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|positive regulation of neuron apoptotic process (GO:0043525)|pre-B cell allelic exclusion (GO:0002331)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|reciprocal meiotic recombination (GO:0007131)|replicative senescence (GO:0090399)|response to hypoxia (GO:0001666)|response to ionizing radiation (GO:0010212)|signal transduction (GO:0007165)|signal transduction involved in mitotic G2 DNA damage checkpoint (GO:0072434)|somitogenesis (GO:0001756)|telomere maintenance (GO:0000723)	cytoplasmic vesicle (GO:0031410)|nucleoplasm (GO:0005654)|spindle (GO:0005819)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent protein kinase activity (GO:0004677)|histone serine kinase activity (GO:0035174)|protein complex binding (GO:0032403)|protein dimerization activity (GO:0046983)|protein N-terminus binding (GO:0047485)|protein serine/threonine kinase activity (GO:0004674)	p.G1663C(2)		NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	448		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|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)		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)	Caffeine(DB00201)	AAACCACACTGGTGAAAAAGA	0.343			"""D, Mis, N, F, S"""		T-PLL	"""leukemia, lymphoma, medulloblastoma, glioma"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Ataxia Telangiectasia	TSP Lung(14;0.12)																												uc001pkb.1			yes	Rec	yes	Ataxia-telangiectasia	11	11q22.3	472	D|Mis|N|F|S	ataxia telangiectasia mutated			"""L, O"""		leukemia|lymphoma|medulloblastoma|glioma	T-PLL		2	Substitution - Missense(2)		lung(2)	haematopoietic_and_lymphoid_tissue(174)|lung(25)|breast(15)|large_intestine(9)|ovary(5)|kidney(5)|central_nervous_system(4)|upper_aerodigestive_tract(1)|stomach(1)|NS(1)	240						c.(4987-4989)GGT>TGT	Genes_defective_in_diseases_associated_with_sensitivity_to_DNA_damaging_agents	ataxia telangiectasia mutated isoform 1							79.0	76.0	77.0					11																	108168091		2201	4298	6499	SO:0001583	missense	472	Ataxia_Telangiectasia	Familial Cancer Database	AT, Louis-Bar syndrome	cell cycle arrest|cellular response to gamma radiation|DNA damage induced protein phosphorylation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|double-strand break repair via homologous recombination|G2/M transition DNA damage checkpoint|histone mRNA catabolic process|mitotic cell cycle spindle assembly checkpoint|negative regulation of B cell proliferation|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|pre-B cell allelic exclusion|protein autophosphorylation|reciprocal meiotic recombination|replicative senescence	cytoplasmic membrane-bounded vesicle|nucleoplasm	1-phosphatidylinositol-3-kinase activity|ATP binding|DNA binding|DNA-dependent protein kinase activity|identical protein binding|protein complex binding|protein dimerization activity|protein N-terminus binding	g.chr11:108168091G>T	AB209133	CCDS31669.1	11q22-q23	2014-09-17	2014-06-17		ENSG00000149311	ENSG00000149311			795	protein-coding gene	gene with protein product	"""TEL1, telomere maintenance 1, homolog (S. cerevisiae)"""	607585	"""ataxia telangiectasia mutated (includes complementation groups A, C and D)"", ""ataxia telangiectasia mutated"""	ATA, ATDC, ATC, ATD			Standard	XM_005271561		Approved	TEL1, TELO1	uc001pkb.1	Q13315	OTTHUMG00000166480	ENST00000452508.2:c.4987G>T	11.37:g.108168091G>T	ENSP00000388058:p.Gly1663Cys	TSP Lung(14;0.12)				ATM_uc009yxr.1_Missense_Mutation_p.G1663C|ATM_uc001pke.1_Missense_Mutation_p.G315C|ATM_uc001pkg.1_Missense_Mutation_p.G20C	p.G1663C	NM_000051	NP_000042	Q13315	ATM_HUMAN		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)	33	5372	+		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|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)	1663					B2RNX5|O15429|Q12758|Q16551|Q93007|Q9NP02|Q9UCX7	Missense_Mutation	SNP	ENST00000452508.2	37	c.4987G>T	CCDS31669.1	.	.	.	.	.	.	.	.	.	.	G	19.08	3.758036	0.69648	.	.	ENSG00000149311	ENST00000278616;ENST00000452508	T;T	0.71579	-0.58;-0.58	4.97	4.97	0.65823	Armadillo-type fold (1);	0.143547	0.64402	D	0.000005	T	0.79381	0.4436	M	0.66939	2.045	0.39805	D	0.972627	D	0.89917	1.0	D	0.65010	0.931	T	0.79538	-0.1762	10	0.40728	T	0.16	.	11.1348	0.48368	0.0843:0.0:0.9157:0.0	.	1663	Q13315	ATM_HUMAN	C	1663	ENSP00000278616:G1663C;ENSP00000388058:G1663C	ENSP00000278616:G1663C	G	+	1	0	ATM	107673301	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.127000	0.64727	2.465000	0.83290	0.655000	0.94253	GGT		PASS	0.343	ATM-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389938.1	NM_000051		15	52	15	52	---	---	---	---
HTR3A	3359	broad.mit.edu	37	11	113857310	113857310	+	Missense_Mutation	SNP	T	T	C			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr11:113857310T>C	ENST00000504030.2	+	7	1221	c.776T>C	c.(775-777)aTg>aCg	p.M259T	HTR3A_ENST00000506841.2_Missense_Mutation_p.M259T|HTR3A_ENST00000535865.1_Missense_Mutation_p.M3T|HTR3A_ENST00000299961.5_Missense_Mutation_p.M244T|HTR3A_ENST00000355556.2_Missense_Mutation_p.M265T|HTR3A_ENST00000375498.2_Missense_Mutation_p.M265T			P46098	5HT3A_HUMAN	5-hydroxytryptamine (serotonin) receptor 3A, ionotropic	259					cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|cellular response to growth factor stimulus (GO:0071363)|digestion (GO:0007586)|ion transmembrane transport (GO:0034220)|response to cocaine (GO:0042220)|response to ethanol (GO:0045471)|serotonin receptor signaling pathway (GO:0007210)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	axon (GO:0030424)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	receptor activity (GO:0004872)|serotonin binding (GO:0051378)|serotonin receptor activity (GO:0004993)|serotonin-activated cation-selective channel activity (GO:0005232)|voltage-gated potassium channel activity (GO:0005249)	p.M259T(1)		central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(14)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	36		all_cancers(61;2.31e-17)|all_epithelial(67;2.1e-10)|all_hematologic(158;4.64e-05)|Melanoma(852;0.000312)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Prostate(24;0.0294)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;2.71e-06)|Epithelial(105;2.58e-05)|all cancers(92;0.000238)|OV - Ovarian serous cystadenocarcinoma(223;0.191)	Alosetron(DB00969)|Amoxapine(DB00543)|Aripiprazole(DB01238)|Chloroprocaine(DB01161)|Cisapride(DB00604)|Clozapine(DB00363)|Dolasetron(DB00757)|Ergoloid mesylate(DB01049)|Granisetron(DB00889)|Loxapine(DB00408)|Memantine(DB01043)|Methadone(DB00333)|Metoclopramide(DB01233)|Mirtazapine(DB00370)|Olanzapine(DB00334)|Ondansetron(DB00904)|Palonosetron(DB00377)|Procaine(DB00721)|Quetiapine(DB01224)|Rocuronium(DB00728)|Tapentadol(DB06204)|Trimipramine(DB00726)|Tubocurarine(DB01199)|Ziprasidone(DB00246)	CTCATGGTCATGGACATCGTG	0.582																																						uc010rxb.1																			1	Substitution - Missense(1)		lung(1)		0						c.(793-795)ATG>ACG		5-hydroxytryptamine (serotonin) receptor 3A	Alosetron(DB00969)|Chloroprocaine(DB01161)|Cisapride(DB00604)|Dolasetron(DB00757)|Granisetron(DB00889)|Mirtazapine(DB00370)|Ondansetron(DB00904)|Palonosetron(DB00377)|Procaine(DB00721)|Tubocurarine(DB01199)						84.0	77.0	79.0					11																	113857310		2201	4296	6497	SO:0001583	missense	3359				digestion|synaptic transmission	cell junction|integral to plasma membrane|postsynaptic membrane	serotonin binding|serotonin receptor activity|serotonin-activated cation-selective channel activity	g.chr11:113857310T>C	D49394	CCDS8365.1, CCDS8366.1, CCDS8365.2, CCDS8366.2, CCDS53710.1	11q23.1-q23.2	2012-05-22	2012-02-03					"""5-HT (serotonin) receptors"", ""Ligand-gated ion channels / 5-HT (serotonin) receptors, ionotropic"""	5297	protein-coding gene	gene with protein product		182139	"""5-hydroxytryptamine (serotonin) receptor 3A"""	HTR3		8530095, 12867984	Standard	NM_000869		Approved	5-HT3R, 5-HT3A	uc010rxb.2	P46098		ENST00000504030.2:c.776T>C	11.37:g.113857310T>C	ENSP00000424189:p.Met259Thr					HTR3A_uc010rxa.1_Missense_Mutation_p.M265T|HTR3A_uc009yyx.2_RNA|HTR3A_uc010rxc.1_Missense_Mutation_p.M244T	p.M265T	NM_213621	NP_998786	P46098	5HT3A_HUMAN		BRCA - Breast invasive adenocarcinoma(274;2.71e-06)|Epithelial(105;2.58e-05)|all cancers(92;0.000238)|OV - Ovarian serous cystadenocarcinoma(223;0.191)	7	1027	+		all_cancers(61;2.31e-17)|all_epithelial(67;2.1e-10)|all_hematologic(158;4.64e-05)|Melanoma(852;0.000312)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Prostate(24;0.0294)|Medulloblastoma(222;0.0425)	259			Helical; Name=1; (Potential).		B4DSY6|G5E986|O60854|Q7KZM7|Q99918|Q9BSZ9	Missense_Mutation	SNP	ENST00000504030.2	37	c.794T>C		.	.	.	.	.	.	.	.	.	.	T	15.24	2.774682	0.49786	.	.	ENSG00000166736	ENST00000504030;ENST00000355556;ENST00000375498;ENST00000506841;ENST00000535865;ENST00000299961	D;D;D;D;D;D	0.85955	-2.05;-2.05;-2.05;-2.05;-2.05;-2.05	5.0	3.86	0.44501	.	0.169034	0.64402	D	0.000004	D	0.84857	0.5565	M	0.77820	2.39	0.45806	D	0.998688	P;P;P	0.39940	0.656;0.696;0.656	B;B;B	0.40982	0.243;0.205;0.345	D	0.84372	0.0544	10	0.87932	D	0	-31.0137	9.7366	0.40392	0.0:0.0796:0.0:0.9204	.	244;265;265	B4DSY6;G5E986;Q7KZM7	.;.;.	T	259;265;265;259;3;244	ENSP00000424189:M259T;ENSP00000347754:M265T;ENSP00000364648:M265T;ENSP00000424776:M259T;ENSP00000437776:M3T;ENSP00000299961:M244T	ENSP00000299961:M244T	M	+	2	0	HTR3A	113362520	1.000000	0.71417	0.999000	0.59377	0.963000	0.63663	6.259000	0.72494	0.850000	0.35239	0.459000	0.35465	ATG		PASS	0.582	HTR3A-001	KNOWN	upstream_ATG|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000360822.2	NM_000869		26	90	26	90	---	---	---	---
HTR3A	3359	broad.mit.edu	37	11	113857737	113857737	+	Silent	SNP	C	C	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr11:113857737C>T	ENST00000504030.2	+	8	1552	c.1107C>T	c.(1105-1107)acC>acT	p.T369T	HTR3A_ENST00000506841.2_Silent_p.T401T|HTR3A_ENST00000535865.1_Silent_p.T113T|HTR3A_ENST00000299961.5_Silent_p.T354T|HTR3A_ENST00000355556.2_Silent_p.T407T|HTR3A_ENST00000375498.2_Silent_p.T375T			P46098	5HT3A_HUMAN	5-hydroxytryptamine (serotonin) receptor 3A, ionotropic	369					cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|cellular response to growth factor stimulus (GO:0071363)|digestion (GO:0007586)|ion transmembrane transport (GO:0034220)|response to cocaine (GO:0042220)|response to ethanol (GO:0045471)|serotonin receptor signaling pathway (GO:0007210)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	axon (GO:0030424)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	receptor activity (GO:0004872)|serotonin binding (GO:0051378)|serotonin receptor activity (GO:0004993)|serotonin-activated cation-selective channel activity (GO:0005232)|voltage-gated potassium channel activity (GO:0005249)	p.T401T(1)		central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(14)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	36		all_cancers(61;2.31e-17)|all_epithelial(67;2.1e-10)|all_hematologic(158;4.64e-05)|Melanoma(852;0.000312)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Prostate(24;0.0294)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;2.71e-06)|Epithelial(105;2.58e-05)|all cancers(92;0.000238)|OV - Ovarian serous cystadenocarcinoma(223;0.191)	Alosetron(DB00969)|Amoxapine(DB00543)|Aripiprazole(DB01238)|Chloroprocaine(DB01161)|Cisapride(DB00604)|Clozapine(DB00363)|Dolasetron(DB00757)|Ergoloid mesylate(DB01049)|Granisetron(DB00889)|Loxapine(DB00408)|Memantine(DB01043)|Methadone(DB00333)|Metoclopramide(DB01233)|Mirtazapine(DB00370)|Olanzapine(DB00334)|Ondansetron(DB00904)|Palonosetron(DB00377)|Procaine(DB00721)|Quetiapine(DB01224)|Rocuronium(DB00728)|Tapentadol(DB06204)|Trimipramine(DB00726)|Tubocurarine(DB01199)|Ziprasidone(DB00246)	CCCCAGCCACCTCCCAAGCCA	0.577																																						uc010rxb.1																			1	Substitution - coding silent(1)		lung(1)		0						c.(1219-1221)ACC>ACT		5-hydroxytryptamine (serotonin) receptor 3A	Alosetron(DB00969)|Chloroprocaine(DB01161)|Cisapride(DB00604)|Dolasetron(DB00757)|Granisetron(DB00889)|Mirtazapine(DB00370)|Ondansetron(DB00904)|Palonosetron(DB00377)|Procaine(DB00721)|Tubocurarine(DB01199)						28.0	31.0	30.0					11																	113857737		2201	4295	6496	SO:0001819	synonymous_variant	3359				digestion|synaptic transmission	cell junction|integral to plasma membrane|postsynaptic membrane	serotonin binding|serotonin receptor activity|serotonin-activated cation-selective channel activity	g.chr11:113857737C>T	D49394	CCDS8365.1, CCDS8366.1, CCDS8365.2, CCDS8366.2, CCDS53710.1	11q23.1-q23.2	2012-05-22	2012-02-03					"""5-HT (serotonin) receptors"", ""Ligand-gated ion channels / 5-HT (serotonin) receptors, ionotropic"""	5297	protein-coding gene	gene with protein product		182139	"""5-hydroxytryptamine (serotonin) receptor 3A"""	HTR3		8530095, 12867984	Standard	NM_000869		Approved	5-HT3R, 5-HT3A	uc010rxb.2	P46098		ENST00000504030.2:c.1107C>T	11.37:g.113857737C>T						HTR3A_uc010rxa.1_Silent_p.T375T|HTR3A_uc009yyx.2_RNA|HTR3A_uc010rxc.1_Silent_p.T354T	p.T407T	NM_213621	NP_998786	P46098	5HT3A_HUMAN		BRCA - Breast invasive adenocarcinoma(274;2.71e-06)|Epithelial(105;2.58e-05)|all cancers(92;0.000238)|OV - Ovarian serous cystadenocarcinoma(223;0.191)	7	1454	+		all_cancers(61;2.31e-17)|all_epithelial(67;2.1e-10)|all_hematologic(158;4.64e-05)|Melanoma(852;0.000312)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Prostate(24;0.0294)|Medulloblastoma(222;0.0425)	369			Cytoplasmic (Potential).		B4DSY6|G5E986|O60854|Q7KZM7|Q99918|Q9BSZ9	Silent	SNP	ENST00000504030.2	37	c.1221C>T																																																																																					PASS	0.577	HTR3A-001	KNOWN	upstream_ATG|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000360822.2	NM_000869		9	44	9	44	---	---	---	---
HTR3A	3359	broad.mit.edu	37	11	113860256	113860256	+	Missense_Mutation	SNP	G	G	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr11:113860256G>T	ENST00000504030.2	+	9	1653	c.1208G>T	c.(1207-1209)aGc>aTc	p.S403I	HTR3A_ENST00000506841.2_Missense_Mutation_p.S435I|HTR3A_ENST00000535865.1_Missense_Mutation_p.S147I|HTR3A_ENST00000299961.5_Missense_Mutation_p.S388I|HTR3A_ENST00000355556.2_Missense_Mutation_p.S441I|HTR3A_ENST00000375498.2_Missense_Mutation_p.S409I			P46098	5HT3A_HUMAN	5-hydroxytryptamine (serotonin) receptor 3A, ionotropic	403					cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|cellular response to growth factor stimulus (GO:0071363)|digestion (GO:0007586)|ion transmembrane transport (GO:0034220)|response to cocaine (GO:0042220)|response to ethanol (GO:0045471)|serotonin receptor signaling pathway (GO:0007210)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	axon (GO:0030424)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	receptor activity (GO:0004872)|serotonin binding (GO:0051378)|serotonin receptor activity (GO:0004993)|serotonin-activated cation-selective channel activity (GO:0005232)|voltage-gated potassium channel activity (GO:0005249)	p.S435I(1)		central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(14)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	36		all_cancers(61;2.31e-17)|all_epithelial(67;2.1e-10)|all_hematologic(158;4.64e-05)|Melanoma(852;0.000312)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Prostate(24;0.0294)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;2.71e-06)|Epithelial(105;2.58e-05)|all cancers(92;0.000238)|OV - Ovarian serous cystadenocarcinoma(223;0.191)	Alosetron(DB00969)|Amoxapine(DB00543)|Aripiprazole(DB01238)|Chloroprocaine(DB01161)|Cisapride(DB00604)|Clozapine(DB00363)|Dolasetron(DB00757)|Ergoloid mesylate(DB01049)|Granisetron(DB00889)|Loxapine(DB00408)|Memantine(DB01043)|Methadone(DB00333)|Metoclopramide(DB01233)|Mirtazapine(DB00370)|Olanzapine(DB00334)|Ondansetron(DB00904)|Palonosetron(DB00377)|Procaine(DB00721)|Quetiapine(DB01224)|Rocuronium(DB00728)|Tapentadol(DB06204)|Trimipramine(DB00726)|Tubocurarine(DB01199)|Ziprasidone(DB00246)	GACAGATGTAGCCCTCCCCCA	0.627																																						uc010rxb.1																			1	Substitution - Missense(1)		lung(1)		0						c.(1321-1323)AGC>ATC		5-hydroxytryptamine (serotonin) receptor 3A	Alosetron(DB00969)|Chloroprocaine(DB01161)|Cisapride(DB00604)|Dolasetron(DB00757)|Granisetron(DB00889)|Mirtazapine(DB00370)|Ondansetron(DB00904)|Palonosetron(DB00377)|Procaine(DB00721)|Tubocurarine(DB01199)						67.0	75.0	72.0					11																	113860256		2201	4296	6497	SO:0001583	missense	3359				digestion|synaptic transmission	cell junction|integral to plasma membrane|postsynaptic membrane	serotonin binding|serotonin receptor activity|serotonin-activated cation-selective channel activity	g.chr11:113860256G>T	D49394	CCDS8365.1, CCDS8366.1, CCDS8365.2, CCDS8366.2, CCDS53710.1	11q23.1-q23.2	2012-05-22	2012-02-03					"""5-HT (serotonin) receptors"", ""Ligand-gated ion channels / 5-HT (serotonin) receptors, ionotropic"""	5297	protein-coding gene	gene with protein product		182139	"""5-hydroxytryptamine (serotonin) receptor 3A"""	HTR3		8530095, 12867984	Standard	NM_000869		Approved	5-HT3R, 5-HT3A	uc010rxb.2	P46098		ENST00000504030.2:c.1208G>T	11.37:g.113860256G>T	ENSP00000424189:p.Ser403Ile					HTR3A_uc010rxa.1_Missense_Mutation_p.S409I|HTR3A_uc009yyx.2_RNA|HTR3A_uc010rxc.1_Missense_Mutation_p.S388I	p.S441I	NM_213621	NP_998786	P46098	5HT3A_HUMAN		BRCA - Breast invasive adenocarcinoma(274;2.71e-06)|Epithelial(105;2.58e-05)|all cancers(92;0.000238)|OV - Ovarian serous cystadenocarcinoma(223;0.191)	8	1555	+		all_cancers(61;2.31e-17)|all_epithelial(67;2.1e-10)|all_hematologic(158;4.64e-05)|Melanoma(852;0.000312)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Prostate(24;0.0294)|Medulloblastoma(222;0.0425)	403			Cytoplasmic (Potential).		B4DSY6|G5E986|O60854|Q7KZM7|Q99918|Q9BSZ9	Missense_Mutation	SNP	ENST00000504030.2	37	c.1322G>T		.	.	.	.	.	.	.	.	.	.	G	7.823	0.718187	0.15372	.	.	ENSG00000166736	ENST00000504030;ENST00000355556;ENST00000375498;ENST00000506841;ENST00000535865;ENST00000299961	T;T;T;T;T;T	0.20881	2.04;2.04;2.04;2.04;2.04;2.04	5.7	4.6	0.57074	.	0.395879	0.30723	N	0.009016	T	0.21307	0.0513	L	0.52573	1.65	0.33815	D	0.62833	B;B;B	0.29646	0.143;0.253;0.143	B;B;B	0.30105	0.069;0.068;0.111	T	0.23476	-1.0187	10	0.49607	T	0.09	-20.5175	12.7641	0.57383	0.1333:0.0:0.8667:0.0	.	388;441;409	B4DSY6;G5E986;Q7KZM7	.;.;.	I	403;441;409;435;147;388	ENSP00000424189:S403I;ENSP00000347754:S441I;ENSP00000364648:S409I;ENSP00000424776:S435I;ENSP00000437776:S147I;ENSP00000299961:S388I	ENSP00000299961:S388I	S	+	2	0	HTR3A	113365466	0.999000	0.42202	0.964000	0.40570	0.035000	0.12851	3.924000	0.56476	2.705000	0.92388	0.650000	0.86243	AGC		PASS	0.627	HTR3A-001	KNOWN	upstream_ATG|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000360822.2	NM_000869		33	100	33	100	---	---	---	---
ZBTB16	7704	broad.mit.edu	37	11	114121265	114121265	+	Silent	SNP	G	G	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr11:114121265G>T	ENST00000335953.4	+	7	2390	c.2010G>T	c.(2008-2010)ctG>ctT	p.L670L	RP11-64D24.2_ENST00000544925.1_RNA|ZBTB16_ENST00000392996.2_Silent_p.L670L|ZBTB16_ENST00000535379.1_3'UTR	NM_006006.4	NP_005997.2	Q05516	ZBT16_HUMAN	zinc finger and BTB domain containing 16	670					anterior/posterior pattern specification (GO:0009952)|apoptotic process (GO:0006915)|cartilage development (GO:0051216)|central nervous system development (GO:0007417)|embryonic digit morphogenesis (GO:0042733)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic pattern specification (GO:0009880)|forelimb morphogenesis (GO:0035136)|hemopoiesis (GO:0030097)|male germ-line stem cell asymmetric division (GO:0048133)|mesonephros development (GO:0001823)|myeloid cell differentiation (GO:0030099)|negative regulation of cell proliferation (GO:0008285)|negative regulation of myeloid cell differentiation (GO:0045638)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cartilage development (GO:0061036)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of NK T cell differentiation (GO:0051138)|positive regulation of ossification (GO:0045778)|positive regulation of transcription, DNA-templated (GO:0045893)|protein localization to nucleus (GO:0034504)|protein ubiquitination (GO:0016567)|transcription, DNA-templated (GO:0006351)	cytosol (GO:0005829)|nuclear body (GO:0016604)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|PML body (GO:0016605)|transcriptional repressor complex (GO:0017053)	DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.L670L(1)		central_nervous_system(1)|large_intestine(2)|skin(1)|upper_aerodigestive_tract(2)	6		all_cancers(61;3.79e-18)|all_epithelial(67;2.32e-10)|all_hematologic(158;2.96e-05)|Melanoma(852;0.000362)|Acute lymphoblastic leukemia(157;0.00108)|Breast(348;0.0104)|all_neural(223;0.0294)|Prostate(24;0.0318)|Medulloblastoma(222;0.0438)		BRCA - Breast invasive adenocarcinoma(274;6.75e-06)|Epithelial(105;0.000181)|all cancers(92;0.0018)		ACCTCTACCTGTGCTATGTGT	0.567																																						uc001pop.2																			1	Substitution - coding silent(1)		lung(1)	central_nervous_system(1)|skin(1)	2						c.(2008-2010)CTG>CTT		promyelocytic leukemia zinc finger protein							53.0	51.0	52.0					11																	114121265		2201	4296	6497	SO:0001819	synonymous_variant	7704				apoptosis|central nervous system development|mesonephros development|myeloid cell differentiation|negative regulation of myeloid cell differentiation|negative regulation of transcription, DNA-dependent	nuclear speck|PML body|transcriptional repressor complex	protein homodimerization activity|zinc ion binding	g.chr11:114121265G>T	Z19002	CCDS8367.1	11q23	2013-10-17	2004-07-16	2004-07-16	ENSG00000109906	ENSG00000109906		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	12930	protein-coding gene	gene with protein product	"""promyelocytic leukaemia zinc finger"""	176797	"""zinc finger protein 145 (Kruppel-like, expressed in promyelocytic leukemia)"""	ZNF145			Standard	XM_006718899		Approved	PLZF	uc001poq.3	Q05516	OTTHUMG00000168243	ENST00000335953.4:c.2010G>T	11.37:g.114121265G>T						ZBTB16_uc001poq.2_Silent_p.L670L	p.L670L	NM_006006	NP_005997	Q05516	ZBT16_HUMAN		BRCA - Breast invasive adenocarcinoma(274;6.75e-06)|Epithelial(105;0.000181)|all cancers(92;0.0018)	7	2274	+		all_cancers(61;3.79e-18)|all_epithelial(67;2.32e-10)|all_hematologic(158;2.96e-05)|Melanoma(852;0.000362)|Acute lymphoblastic leukemia(157;0.00108)|Breast(348;0.0104)|all_neural(223;0.0294)|Prostate(24;0.0318)|Medulloblastoma(222;0.0438)	670					Q8TAL4	Silent	SNP	ENST00000335953.4	37	c.2010G>T	CCDS8367.1																																																																																				PASS	0.567	ZBTB16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398940.1	NM_006006		27	40	27	40	---	---	---	---
APOC3	345	broad.mit.edu	37	11	116701610	116701610	+	Silent	SNP	C	C	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr11:116701610C>T	ENST00000227667.3	+	3	239	c.177C>T	c.(175-177)gcC>gcT	p.A59A	APOC3_ENST00000470144.1_3'UTR|APOC3_ENST00000375345.1_Silent_p.A77A	NM_000040.1	NP_000031.1	P02656	APOC3_HUMAN	apolipoprotein C-III	59				QQA -> AQQ (in Ref. 8; AA sequence). {ECO:0000305}.	cellular response to glucose stimulus (GO:0071333)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|chylomicron remnant clearance (GO:0034382)|G-protein coupled receptor signaling pathway (GO:0007186)|high-density lipoprotein particle remodeling (GO:0034375)|inflammatory response (GO:0006954)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|negative regulation of cholesterol import (GO:0060621)|negative regulation of fatty acid biosynthetic process (GO:0045717)|negative regulation of high-density lipoprotein particle clearance (GO:0010987)|negative regulation of lipid catabolic process (GO:0050995)|negative regulation of lipid metabolic process (GO:0045833)|negative regulation of lipoprotein lipase activity (GO:0051005)|negative regulation of low-density lipoprotein particle clearance (GO:0010989)|negative regulation of receptor-mediated endocytosis (GO:0048261)|negative regulation of triglyceride catabolic process (GO:0010897)|negative regulation of very-low-density lipoprotein particle clearance (GO:0010916)|negative regulation of very-low-density lipoprotein particle remodeling (GO:0010903)|phospholipid efflux (GO:0033700)|phototransduction, visible light (GO:0007603)|regulation of Cdc42 protein signal transduction (GO:0032489)|response to drug (GO:0042493)|response to nutrient (GO:0007584)|response to peptide hormone (GO:0043434)|retinoid metabolic process (GO:0001523)|reverse cholesterol transport (GO:0043691)|small molecule metabolic process (GO:0044281)|triglyceride catabolic process (GO:0019433)|triglyceride homeostasis (GO:0070328)|triglyceride metabolic process (GO:0006641)|triglyceride mobilization (GO:0006642)|very-low-density lipoprotein particle assembly (GO:0034379)	chylomicron (GO:0042627)|early endosome (GO:0005769)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intermediate-density lipoprotein particle (GO:0034363)|spherical high-density lipoprotein particle (GO:0034366)|very-low-density lipoprotein particle (GO:0034361)	cholesterol binding (GO:0015485)|enzyme regulator activity (GO:0030234)|high-density lipoprotein particle receptor binding (GO:0070653)|lipase inhibitor activity (GO:0055102)|phospholipid binding (GO:0005543)	p.A59A(1)		endometrium(1)|lung(6)	7	all_hematologic(175;0.0487)	Breast(348;0.0126)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.0564)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;8.54e-06)|Epithelial(105;1.62e-05)|all cancers(92;0.000165)|OV - Ovarian serous cystadenocarcinoma(223;0.148)		CCCAGCAGGCCAGGTACACCC	0.642																																					GBM(81;259 1650 7161 35190)	uc001ppt.1																			1	Substitution - coding silent(1)		lung(1)		0						c.(175-177)GCC>GCT		apolipoprotein C-III precursor							42.0	38.0	39.0					11																	116701610		2200	4296	6496	SO:0001819	synonymous_variant	345				Cdc42 protein signal transduction|cholesterol efflux|cholesterol homeostasis|chylomicron remnant clearance|G-protein coupled receptor protein signaling pathway|high-density lipoprotein particle remodeling|lipoprotein metabolic process|negative regulation of cholesterol import|negative regulation of fatty acid biosynthetic process|negative regulation of high-density lipoprotein particle clearance|negative regulation of lipoprotein lipase activity|negative regulation of low-density lipoprotein particle clearance|negative regulation of receptor-mediated endocytosis|negative regulation of triglyceride catabolic process|negative regulation of very-low-density lipoprotein particle clearance|negative regulation of very-low-density lipoprotein particle remodeling|phospholipid efflux|triglyceride catabolic process|triglyceride homeostasis|very-low-density lipoprotein particle assembly	chylomicron|intermediate-density lipoprotein particle|spherical high-density lipoprotein particle|very-low-density lipoprotein particle	high-density lipoprotein particle receptor binding|lipase inhibitor activity|phospholipid binding	g.chr11:116701610C>T	X01388	CCDS8377.1	11q23.3	2013-01-24			ENSG00000110245	ENSG00000110245		"""Apolipoproteins"""	610	protein-coding gene	gene with protein product		107720					Standard	NM_000040		Approved		uc001ppt.1	P02656	OTTHUMG00000046115	ENST00000227667.3:c.177C>T	11.37:g.116701610C>T							p.A59A	NM_000040	NP_000031	P02656	APOC3_HUMAN		BRCA - Breast invasive adenocarcinoma(274;8.54e-06)|Epithelial(105;1.62e-05)|all cancers(92;0.000165)|OV - Ovarian serous cystadenocarcinoma(223;0.148)	3	223	+	all_hematologic(175;0.0487)	Breast(348;0.0126)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.0564)|all_neural(223;0.234)	59	QQA -> AQQ (in Ref. 8; AA sequence).				Q08E83|Q6Q786	Silent	SNP	ENST00000227667.3	37	c.177C>T	CCDS8377.1																																																																																				PASS	0.642	APOC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000106284.2	NM_000040		6	34	6	34	---	---	---	---
PAFAH1B2	5049	broad.mit.edu	37	11	117031909	117031909	+	Missense_Mutation	SNP	G	G	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr11:117031909G>T	ENST00000527958.1	+	4	379	c.220G>T	c.(220-222)Ggg>Tgg	p.G74W	PAFAH1B2_ENST00000419197.2_Missense_Mutation_p.G74W|PAFAH1B2_ENST00000526888.1_Intron|PAFAH1B2_ENST00000529887.2_Missense_Mutation_p.G74W|PAFAH1B2_ENST00000530272.1_Missense_Mutation_p.G74W	NM_002572.3	NP_002563.1	P68402	PA1B2_HUMAN	platelet-activating factor acetylhydrolase 1b, catalytic subunit 2 (30kDa)	74					brain development (GO:0007420)|lipid catabolic process (GO:0016042)|lipid metabolic process (GO:0006629)|positive regulation of macroautophagy (GO:0016239)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)	1-alkyl-2-acetylglycerophosphocholine esterase activity (GO:0003847)	p.G74W(1)		kidney(1)	1	all_hematologic(175;0.0487)	Medulloblastoma(222;0.0523)|Breast(348;0.056)|all_hematologic(192;0.232)		BRCA - Breast invasive adenocarcinoma(274;1.68e-05)|Epithelial(105;0.000162)|all cancers(92;0.00111)		TTTTGGAATTGGGGGAGATAC	0.348			T	IGH@	MLCLS																																	uc001pqe.1				Dom	yes		11	11q23	5049	T	"""platelet-activating factor acetylhydrolase, isoform Ib, beta subunit 30kDa"""			L	IGH@		MLCLS		1	Substitution - Missense(1)		lung(1)	kidney(1)	1						c.(220-222)GGG>TGG		platelet-activating factor acetylhydrolase,							107.0	110.0	109.0					11																	117031909		2201	4296	6497	SO:0001583	missense	5049				lipid catabolic process	cytoplasm	1-alkyl-2-acetylglycerophosphocholine esterase activity	g.chr11:117031909G>T	D63390	CCDS8380.1, CCDS53713.1, CCDS53714.1, CCDS53715.1	11q23	2011-10-24	2010-02-10			ENSG00000168092			8575	protein-coding gene	gene with protein product	"""PAF-AH1b alpha 2 subunit"""	602508	"""platelet-activating factor acetylhydrolase, isoform Ib, beta subunit 30kDa"", ""platelet-activating factor acetylhydrolase, isoform Ib, subunit 2 (30kDa)"""			9144386, 9693049	Standard	NM_002572		Approved		uc001pqe.2	P68402		ENST00000527958.1:c.220G>T	11.37:g.117031909G>T	ENSP00000435289:p.Gly74Trp					PAFAH1B2_uc009yzk.1_Missense_Mutation_p.G74W|PAFAH1B2_uc009yzl.1_Missense_Mutation_p.G74W|PAFAH1B2_uc009yzm.2_RNA|PAFAH1B2_uc009yzn.2_RNA|PAFAH1B2_uc009yzj.1_Intron	p.G74W	NM_002572	NP_002563	P68402	PA1B2_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.68e-05)|Epithelial(105;0.000162)|all cancers(92;0.00111)	4	322	+	all_hematologic(175;0.0487)	Medulloblastoma(222;0.0523)|Breast(348;0.056)|all_hematologic(192;0.232)	74					A8DPS5|A8DPS6|A8DPS7|E9PEJ5|E9PLP3|O00687|Q29459|Q6IBR6	Missense_Mutation	SNP	ENST00000527958.1	37	c.220G>T	CCDS8380.1	.	.	.	.	.	.	.	.	.	.	G	23.4	4.409820	0.83340	.	.	ENSG00000168092	ENST00000527958;ENST00000419197;ENST00000529887;ENST00000530272	T;T;T	0.53206	0.63;0.64;0.64	5.29	4.37	0.52481	Esterase, SGNH hydrolase-type (1);Esterase, SGNH hydrolase-type, subgroup (1);Lipase, GDSL (1);	0.048234	0.85682	D	0.000000	T	0.73900	0.3646	M	0.90870	3.155	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.993;0.996;0.998	T	0.80336	-0.1425	10	0.72032	D	0.01	-10.2348	14.2942	0.66300	0.0733:0.0:0.9267:0.0	.	74;74;74	E9PLP3;A8DPS6;P68402	.;.;PA1B2_HUMAN	W	74	ENSP00000435289:G74W;ENSP00000388742:G74W;ENSP00000431365:G74W	ENSP00000388742:G74W	G	+	1	0	PAFAH1B2	116537119	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	7.787000	0.85759	2.482000	0.83794	0.491000	0.48974	GGG		PASS	0.348	PAFAH1B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392826.1	NM_002572		39	103	39	103	---	---	---	---
DSCAML1	57453	broad.mit.edu	37	11	117647604	117647604	+	Missense_Mutation	SNP	C	C	A	rs148829010		TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr11:117647604C>A	ENST00000321322.6	-	3	594	c.593G>T	c.(592-594)cGt>cTt	p.R198L	DSCAML1_ENST00000527706.1_Intron	NM_020693.2	NP_065744.2	Q8TD84	DSCL1_HUMAN	Down syndrome cell adhesion molecule like 1	138	Ig-like C2-type 2.				axonogenesis (GO:0007409)|brain development (GO:0007420)|cell fate determination (GO:0001709)|central nervous system development (GO:0007417)|dendrite self-avoidance (GO:0070593)|dorsal/ventral pattern formation (GO:0009953)|embryonic skeletal system morphogenesis (GO:0048704)|homophilic cell adhesion (GO:0007156)|negative regulation of cell adhesion (GO:0007162)	cell surface (GO:0009986)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	protein homodimerization activity (GO:0042803)	p.R198L(2)		breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(24)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	110	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)		BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172)		CACGTTGCCACGCATTGACCT	0.522																																						uc001prh.1																			2	Substitution - Missense(2)		lung(2)	ovary(3)|large_intestine(2)|skin(2)|upper_aerodigestive_tract(1)	8						c.(592-594)CGT>CTT		Down syndrome cell adhesion molecule like 1							161.0	126.0	138.0					11																	117647604		2201	4296	6497	SO:0001583	missense	57453				axonogenesis|brain development|cell fate determination|dorsal/ventral pattern formation|embryonic skeletal system morphogenesis|homophilic cell adhesion	cell surface|integral to membrane|plasma membrane	protein homodimerization activity	g.chr11:117647604C>A		CCDS8384.1	11q22.2-q22.3	2013-02-11			ENSG00000177103	ENSG00000177103		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	14656	protein-coding gene	gene with protein product		611782				11453658	Standard	NM_020693		Approved	KIAA1132	uc001prh.1	Q8TD84	OTTHUMG00000167071	ENST00000321322.6:c.593G>T	11.37:g.117647604C>A	ENSP00000315465:p.Arg198Leu					DSCAML1_uc001pri.1_Missense_Mutation_p.R2L	p.R198L	NM_020693	NP_065744	Q8TD84	DSCL1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172)	3	595	-	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)	138			Extracellular (Potential).|Ig-like C2-type 2.		Q76MU9|Q8IZY3|Q8IZY4|Q8WXU7|Q9ULT7	Missense_Mutation	SNP	ENST00000321322.6	37	c.593G>T	CCDS8384.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	23.6|23.6	4.436980|4.436980	0.83885|0.83885	.|.	.|.	ENSG00000177103|ENSG00000177103	ENST00000321322|ENST00000525836	T|.	0.75704|.	-0.96|.	5.35|5.35	5.35|5.35	0.76521|0.76521	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);|.	.|.	.|.	.|.	.|.	T|T	0.72566|0.72566	0.3476|0.3476	L|L	0.58510|0.58510	1.815|1.815	0.80722|0.80722	D|D	1|1	D|.	0.89917|.	1.0|.	D|.	0.91635|.	0.999|.	T|T	0.69950|0.69950	-0.5006|-0.5006	9|5	0.38643|.	T|.	0.18|.	.|.	19.0745|19.0745	0.93154|0.93154	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	138|.	Q8TD84|.	DSCL1_HUMAN|.	L|L	198|40	ENSP00000315465:R198L|.	ENSP00000315465:R198L|.	R|V	-|-	2|1	0|0	DSCAML1|DSCAML1	117152814|117152814	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	5.890000|5.890000	0.69774|0.69774	2.505000|2.505000	0.84491|0.84491	0.655000|0.655000	0.94253|0.94253	CGT|GTG		PASS	0.522	DSCAML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392907.2	NM_020693		11	37	11	37	---	---	---	---
TMEM25	84866	broad.mit.edu	37	11	118403633	118403633	+	Splice_Site	SNP	C	C	G			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr11:118403633C>G	ENST00000313236.5	+	4	437	c.384C>G	c.(382-384)ttC>ttG	p.F128L	TMEM25_ENST00000524725.1_Splice_Site_p.F128L|TMEM25_ENST00000359862.4_Splice_Site_p.F128L|RP11-770J1.3_ENST00000554407.1_RNA|TMEM25_ENST00000411589.2_Splice_Site_p.F128L|RP11-770J1.3_ENST00000532597.1_RNA|TMEM25_ENST00000442938.2_Splice_Site_p.F128L|TMEM25_ENST00000544878.1_Intron|RP11-770J1.3_ENST00000528578.1_RNA|TMEM25_ENST00000354064.7_Splice_Site_p.V24V|TMEM25_ENST00000354284.4_Splice_Site_p.F128L|RP11-770J1.3_ENST00000556583.1_RNA|TMEM25_ENST00000529001.1_3'UTR|TMEM25_ENST00000533102.1_Splice_Site_p.F128L|RP11-770J1.3_ENST00000525992.2_RNA	NM_032780.3	NP_116169.2	Q86YD3	TMM25_HUMAN	transmembrane protein 25	128						extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.F128L(1)		endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|prostate(1)|skin(1)|stomach(1)	13	all_hematologic(175;0.0349)	Medulloblastoma(222;0.0523)|all_hematologic(192;0.0735)		BRCA - Breast invasive adenocarcinoma(274;3.04e-05)		TTGTACCAGTCAAGCCAGAGA	0.612																																						uc010rye.1																			1	Substitution - Missense(1)		lung(1)		0						c.(382-384)TTC>TTG		transmembrane protein 25 isoform 1							83.0	97.0	93.0					11																	118403633		2200	4295	6495	SO:0001630	splice_region_variant	84866					extracellular region|integral to membrane|plasma membrane		g.chr11:118403633C>G	AK075437	CCDS8398.1, CCDS44745.1, CCDS44746.1, CCDS44747.1, CCDS44748.1	11q23.3	2013-01-11			ENSG00000149582	ENSG00000149582		"""Immunoglobulin superfamily / C2-set domain containing"""	25890	protein-coding gene	gene with protein product		613934				15254712, 12975309	Standard	NM_001144034		Approved	FLJ14399	uc010rye.2	Q86YD3	OTTHUMG00000166339	ENST00000313236.5:c.383-1C>G	11.37:g.118403633C>G						TMEM25_uc010ryd.1_Missense_Mutation_p.F128L|TMEM25_uc001ptk.3_Missense_Mutation_p.F128L|TMEM25_uc001pth.2_Missense_Mutation_p.F128L|TMEM25_uc009zad.2_Missense_Mutation_p.F128L|TMEM25_uc001pti.2_Silent_p.V24V|TMEM25_uc010ryf.1_Intron|TMEM25_uc001ptl.2_Missense_Mutation_p.F128L|TMEM25_uc001ptm.2_Missense_Mutation_p.F128L|TMEM25_uc001ptn.2_Missense_Mutation_p.F128L	p.F128L	NM_032780	NP_116169	Q86YD3	TMM25_HUMAN		BRCA - Breast invasive adenocarcinoma(274;3.04e-05)	4	558	+	all_hematologic(175;0.0349)	Medulloblastoma(222;0.0523)|all_hematologic(192;0.0735)	128			Extracellular (Potential).		A8K8J4|B0YJA6|B0YJA7|B0YJA9|G5E9U4|Q6UW89|Q86UA7|Q8NBL5|Q96KA6|Q96MW9	Missense_Mutation	SNP	ENST00000313236.5	37	c.384C>G	CCDS8398.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	16.56|16.56	3.156406|3.156406	0.57259|0.57259	.|.	.|.	ENSG00000149582|ENSG00000149582	ENST00000411589;ENST00000442938;ENST00000359862;ENST00000354284;ENST00000533137;ENST00000533102;ENST00000313236;ENST00000524725;ENST00000533689|ENST00000526973	D;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;-2.08|.	5.71|5.71	2.12|2.12	0.27331|0.27331	Immunoglobulin-like fold (1);|.	0.058681|.	0.64402|.	D|.	0.000002|.	T|.	0.37320|.	0.0999|.	N|N	0.19112|0.19112	0.55|0.55	0.80722|0.80722	D|D	1|1	P;D;B;B;P;P;D|.	0.58268|.	0.546;0.97;0.176;0.428;0.675;0.546;0.982|.	B;P;B;B;B;B;P|.	0.52454|.	0.205;0.504;0.06;0.216;0.372;0.205;0.699|.	T|.	0.05649|.	-1.0872|.	10|.	0.49607|.	T|.	0.09|.	.|.	7.0977|7.0977	0.25319|0.25319	0.0:0.3831:0.0:0.6169|0.0:0.3831:0.0:0.6169	.|.	128;128;128;128;128;128;128|.	Q86YD3;B7Z4E4;Q8NBL5;G5E9U4;Q86YD3-4;E9PKP3;Q86YD3-2|.	TMM25_HUMAN;.;.;.;.;.;.|.	L|X	128;128;128;128;96;128;128;128;128|12	ENSP00000411882:F128L;ENSP00000416071:F128L;ENSP00000352924:F128L;ENSP00000346237:F128L;ENSP00000433938:F96L;ENSP00000431548:F128L;ENSP00000315635:F128L;ENSP00000431205:F128L;ENSP00000436746:F128L|.	ENSP00000315635:F128L|.	F|S	+|+	3|2	2|0	TMEM25|TMEM25	117908843|117908843	0.999000|0.999000	0.42202|0.42202	1.000000|1.000000	0.80357|0.80357	0.988000|0.988000	0.76386|0.76386	0.524000|0.524000	0.22940|0.22940	0.452000|0.452000	0.26830|0.26830	-0.302000|-0.302000	0.09304|0.09304	TTC|TCA		PASS	0.612	TMEM25-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389266.1	NM_032780	Missense_Mutation	34	81	34	81	---	---	---	---
C2CD2L	9854	broad.mit.edu	37	11	118983091	118983091	+	Missense_Mutation	SNP	G	G	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr11:118983091G>A	ENST00000528586.1	+	4	387	c.317G>A	c.(316-318)aGc>aAc	p.S106N	C2CD2L_ENST00000336702.3_Missense_Mutation_p.S358N			O14523	C2C2L_HUMAN	C2CD2-like	358						integral component of membrane (GO:0016021)		p.S358N(1)		NS(1)|endometrium(1)|large_intestine(2)|lung(8)|prostate(1)	13						AGGAGCAGCAGCTGTGGAGAC	0.622																																						uc001pvo.2																			1	Substitution - Missense(1)		lung(1)		0						c.(1072-1074)AGC>AAC		transmembrane protein 24							48.0	53.0	52.0					11																	118983091		2200	4295	6495	SO:0001583	missense	9854					integral to membrane		g.chr11:118983091G>A	AK025223	CCDS8413.1	11q23.3	2008-04-22	2008-04-22	2008-04-22		ENSG00000172375			29000	protein-coding gene	gene with protein product			"""transmembrane protein 24"""	TMEM24		15289880	Standard	XM_005271738		Approved	KIAA0285	uc001pvn.3	O14523		ENST00000528586.1:c.317G>A	11.37:g.118983091G>A	ENSP00000433600:p.Ser106Asn					C2CD2L_uc001pvn.2_Missense_Mutation_p.S358N	p.S358N	NM_014807	NP_055622	O14523	C2C2L_HUMAN			8	1432	+			358					Q86UT7|Q86V04|Q8N522|Q8TBN4|Q96G10	Missense_Mutation	SNP	ENST00000528586.1	37	c.1073G>A		.	.	.	.	.	.	.	.	.	.	G	10.97	1.501471	0.26861	.	.	ENSG00000172375	ENST00000336702;ENST00000528586	T;T	0.39406	1.08;1.08	5.23	0.115	0.14643	C2 calcium/lipid-binding domain, CaLB (1);	0.440664	0.28877	N	0.013860	T	0.19287	0.0463	L	0.27053	0.805	0.09310	N	0.999999	P;P	0.43352	0.804;0.804	B;B	0.37601	0.163;0.254	T	0.13818	-1.0495	10	0.19590	T	0.45	-0.9303	1.8254	0.03119	0.3605:0.1245:0.3875:0.1276	.	358;358	O14523;O14523-2	C2C2L_HUMAN;.	N	358;106	ENSP00000338885:S358N;ENSP00000433600:S106N	ENSP00000338885:S358N	S	+	2	0	C2CD2L	118488301	0.048000	0.20356	0.105000	0.21289	0.958000	0.62258	0.708000	0.25719	-0.120000	0.11809	-0.229000	0.12294	AGC		PASS	0.622	C2CD2L-003	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000388199.2	NM_014807		24	46	24	46	---	---	---	---
CBL	867	broad.mit.edu	37	11	119148970	119148970	+	Missense_Mutation	SNP	G	G	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr11:119148970G>T	ENST00000264033.4	+	8	1566	c.1190G>T	c.(1189-1191)gGa>gTa	p.G397V		NM_005188.3	NP_005179.2	P22681	CBL_HUMAN	Cbl proto-oncogene, E3 ubiquitin protein ligase	397	Asp/Glu-rich (acidic).				cell surface receptor signaling pathway (GO:0007166)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of receptor-mediated endocytosis (GO:0048260)|protein ubiquitination (GO:0016567)|regulation of transcription, DNA-templated (GO:0006355)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|flotillin complex (GO:0016600)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|ephrin receptor binding (GO:0046875)|ligase activity (GO:0016874)|sequence-specific DNA binding transcription factor activity (GO:0003700)|SH3 domain binding (GO:0017124)|signal transducer activity (GO:0004871)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.E366_Q409del(13)|p.G397_I429del(1)|p.G397V(1)|p.E369_Q409del(1)|p.E366_K477del(1)		breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(194)|kidney(3)|large_intestine(9)|lung(30)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	251		Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.92e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.000784)		GAGCCCTGTGGACACCTCATG	0.383			"""T, Mis S, O"""	MLL	"""AML, JMML, MDS"""				Noonan syndrome;CBL gene-associated Juvenile Myelomonocytic Leukemia and Developmental Anomalies																													uc001pwe.2				"""Dom, Rec"""	yes		11	11q23.3	867		Cas-Br-M (murine) ecotropic retroviral transforming			L					17	Deletion - In frame(16)|Substitution - Missense(1)	p.E366_Q409del(13)|p.G397_I429del(1)|p.E366_K477del(1)	haematopoietic_and_lymphoid_tissue(16)|lung(1)	haematopoietic_and_lymphoid_tissue(135)|lung(10)|central_nervous_system(2)|ovary(1)|breast(1)	149						c.(1189-1191)GGA>GTA		Cas-Br-M (murine) ecotropic retroviral							128.0	119.0	122.0					11																	119148970		2199	4295	6494	SO:0001583	missense	867	CBL_gene-associated_Juvenile_Myelomonocytic_Leukemia_and_Developmental_Anomalies|Noonan_syndrome	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome;CBL-associated JMML	epidermal growth factor receptor signaling pathway|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of receptor-mediated endocytosis	cytosol|nucleus	calcium ion binding|sequence-specific DNA binding transcription factor activity|SH3 domain binding|signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding	g.chr11:119148970G>T	X57110	CCDS8418.1	11q23.3	2014-09-17	2012-02-23		ENSG00000110395	ENSG00000110395		"""RING-type (C3HC4) zinc fingers"""	1541	protein-coding gene	gene with protein product	"""oncogene CBL2"""	165360	"""Cas-Br-M (murine) ecotropic retroviral transforming sequence"""	CBL2		2013228	Standard	NM_005188		Approved	RNF55, c-Cbl	uc001pwe.4	P22681	OTTHUMG00000166170	ENST00000264033.4:c.1190G>T	11.37:g.119148970G>T	ENSP00000264033:p.Gly397Val						p.G397V	NM_005188	NP_005179	P22681	CBL_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4.92e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.000784)	8	1328	+		Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)	397			Asp/Glu-rich (acidic).|RING-type.		A3KMP8	Missense_Mutation	SNP	ENST00000264033.4	37	c.1190G>T	CCDS8418.1	.	.	.	.	.	.	.	.	.	.	G	19.67	3.871398	0.72065	.	.	ENSG00000110395	ENST00000264033	D	0.97791	-4.54	5.52	5.52	0.82312	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-type, conserved site (1);Zinc finger, RING-type (2);Zinc finger, C3HC4 RING-type (1);	0.000000	0.85682	D	0.000000	D	0.99193	0.9720	H	0.95780	3.72	0.80722	D	1	D	0.89917	1.0	D	0.75484	0.986	D	0.99078	1.0836	10	0.87932	D	0	-40.1276	19.8212	0.96595	0.0:0.0:1.0:0.0	.	397	P22681	CBL_HUMAN	V	397	ENSP00000264033:G397V	ENSP00000264033:G397V	G	+	2	0	CBL	118654180	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.420000	0.97426	2.759000	0.94783	0.557000	0.71058	GGA		PASS	0.383	CBL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388219.4	NM_005188		35	92	35	92	---	---	---	---
ARHGEF12	23365	broad.mit.edu	37	11	120352171	120352171	+	Nonsense_Mutation	SNP	G	G	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr11:120352171G>A	ENST00000397843.2	+	39	4606	c.4440G>A	c.(4438-4440)tgG>tgA	p.W1480*	ARHGEF12_ENST00000356641.3_Nonsense_Mutation_p.W1461*|ARHGEF12_ENST00000532993.1_Nonsense_Mutation_p.W1377*	NM_015313.2	NP_056128.1	Q9NZN5	ARHGC_HUMAN	Rho guanine nucleotide exchange factor (GEF) 12	1480					apoptotic signaling pathway (GO:0097190)|axon guidance (GO:0007411)|G-protein coupled receptor signaling pathway (GO:0007186)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	G-protein coupled receptor binding (GO:0001664)|GTPase activator activity (GO:0005096)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.W1480*(1)		NS(1)|breast(5)|endometrium(6)|kidney(5)|large_intestine(13)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(2)	61		Breast(109;0.000813)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.0831)|all_hematologic(192;0.107)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.231)		AGCAGCGCTGGGGAGCTATGG	0.507			T	MLL	AML																																	uc001pxl.1				Dom	yes		11	11q23.3	23365	T	RHO guanine nucleotide exchange factor (GEF) 12 (LARG)			L	MLL		AML		1	Substitution - Nonsense(1)		lung(1)	lung(2)|breast(2)|skin(2)|ovary(1)	7						c.(4438-4440)TGG>TGA		Rho guanine nucleotide exchange factor (GEF) 12							89.0	91.0	90.0					11																	120352171		1907	4138	6045	SO:0001587	stop_gained	23365				apoptosis|axon guidance|G-protein coupled receptor protein signaling pathway|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|membrane	G-protein-coupled receptor binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity	g.chr11:120352171G>A	AF180681	CCDS41727.1, CCDS55794.1	11q23.3	2011-11-16			ENSG00000196914	ENSG00000196914		"""Rho guanine nucleotide exchange factors"""	14193	protein-coding gene	gene with protein product		604763				10681437, 9205841	Standard	NM_001198665		Approved	KIAA0382, LARG	uc001pxl.2	Q9NZN5	OTTHUMG00000166143	ENST00000397843.2:c.4440G>A	11.37:g.120352171G>A	ENSP00000380942:p.Trp1480*					ARHGEF12_uc009zau.1_Nonsense_Mutation_p.W1377*	p.W1480*	NM_015313	NP_056128	Q9NZN5	ARHGC_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.231)	39	4447	+		Breast(109;0.000813)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.0831)|all_hematologic(192;0.107)|all_neural(223;0.112)	1480					O15086|Q6P526	Nonsense_Mutation	SNP	ENST00000397843.2	37	c.4440G>A	CCDS41727.1	.	.	.	.	.	.	.	.	.	.	G	47	13.061156	0.99717	.	.	ENSG00000196914	ENST00000397843;ENST00000356641;ENST00000532993	.	.	.	6.08	6.08	0.98989	.	0.362026	0.20843	N	0.084670	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-7.0135	18.8453	0.92203	0.0:0.0:1.0:0.0	.	.	.	.	X	1480;1461;1377	.	ENSP00000349056:W1461X	W	+	3	0	ARHGEF12	119857381	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.250000	0.72435	2.890000	0.99128	0.655000	0.94253	TGG		PASS	0.507	ARHGEF12-001	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388052.1	NM_015313		24	59	24	59	---	---	---	---
SORL1	6653	broad.mit.edu	37	11	121430366	121430366	+	Splice_Site	SNP	G	G	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr11:121430366G>A	ENST00000260197.7	+	21	3178	c.3049G>A	c.(3049-3051)Gga>Aga	p.G1017R		NM_003105.5	NP_003096	Q92673	SORL_HUMAN	sortilin-related receptor, L(DLR class) A repeats containing	1017					cell death (GO:0008219)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cholesterol metabolic process (GO:0008203)|lipid transport (GO:0006869)|negative regulation of aspartic-type endopeptidase activity involved in amyloid precursor protein catabolic process (GO:1902960)|negative regulation of beta-amyloid formation (GO:1902430)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of metalloendopeptidase activity involved in amyloid precursor protein catabolic process (GO:1902963)|negative regulation of neurofibrillary tangle assembly (GO:1902997)|negative regulation of neurogenesis (GO:0050768)|negative regulation of neuron death (GO:1901215)|negative regulation of protein binding (GO:0032091)|negative regulation of protein oligomerization (GO:0032460)|negative regulation of tau-protein kinase activity (GO:1902948)|positive regulation of choline O-acetyltransferase activity (GO:1902771)|positive regulation of early endosome to recycling endosome transport (GO:1902955)|positive regulation of endocytic recycling (GO:2001137)|positive regulation of ER to Golgi vesicle-mediated transport (GO:1902953)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of protein exit from endoplasmic reticulum (GO:0070863)|positive regulation of protein localization to early endosome (GO:1902966)|post-Golgi vesicle-mediated transport (GO:0006892)|protein maturation (GO:0051604)|protein retention in Golgi apparatus (GO:0045053)|protein targeting (GO:0006605)|protein targeting to Golgi (GO:0000042)|protein targeting to lysosome (GO:0006622)|receptor-mediated endocytosis (GO:0006898)|regulation of smooth muscle cell migration (GO:0014910)|signal transduction (GO:0007165)	early endosome (GO:0005769)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|Golgi cisterna (GO:0031985)|integral component of plasma membrane (GO:0005887)|low-density lipoprotein particle (GO:0034362)|membrane (GO:0016020)|multivesicular body (GO:0005771)|neuronal cell body (GO:0043025)|nuclear envelope lumen (GO:0005641)|recycling endosome (GO:0055037)|trans-Golgi network (GO:0005802)	ADP-ribosylation factor binding (GO:0030306)|beta-amyloid binding (GO:0001540)|low-density lipoprotein particle binding (GO:0030169)|transmembrane signaling receptor activity (GO:0004888)	p.G1017fs*40(1)|p.G1017R(1)		NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(2)|lung(34)|ovary(5)|pancreas(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(2)	91		Breast(109;0.00119)|Medulloblastoma(222;0.0429)|all_neural(223;0.113)		BRCA - Breast invasive adenocarcinoma(274;3.34e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.108)		GAAGAACACTGGTAAGCCAGA	0.507																																						uc001pxx.2																			2	Substitution - Missense(1)|Deletion - Frameshift(1)		lung(2)	ovary(5)|breast(4)|large_intestine(2)|skin(2)|central_nervous_system(1)|pancreas(1)	15						c.(3049-3051)GGA>AGA		sortilin-related receptor containing LDLR class							73.0	73.0	73.0					11																	121430366		2203	4299	6502	SO:0001630	splice_region_variant	6653				cholesterol metabolic process|lipid transport|receptor-mediated endocytosis	integral to plasma membrane|low-density lipoprotein particle	low-density lipoprotein particle binding|transmembrane receptor activity	g.chr11:121430366G>A	Y08110	CCDS8436.1	11q23.2-q24.4	2014-06-05	2011-01-25		ENSG00000137642	ENSG00000137642		"""Fibronectin type III domain containing"""	11185	protein-coding gene	gene with protein product	"""LDLR relative with 11 ligand-binding repeats"""	602005	"""chromosome 11 open reading frame 32"", ""sortilin-related receptor, L(DLR class) A repeats-containing"""	C11orf32		9157966, 8940146	Standard	NM_003105		Approved	gp250, LR11, LRP9, SorLA, SorLA-1	uc001pxx.3	Q92673	OTTHUMG00000166057	ENST00000260197.7:c.3049+1G>A	11.37:g.121430366G>A							p.G1017R	NM_003105	NP_003096	Q92673	SORL_HUMAN		BRCA - Breast invasive adenocarcinoma(274;3.34e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.108)	21	3129	+		Breast(109;0.00119)|Medulloblastoma(222;0.0429)|all_neural(223;0.113)	1017			Extracellular (Potential).		B2RNX7|Q92856	Missense_Mutation	SNP	ENST00000260197.7	37	c.3049G>A	CCDS8436.1	.	.	.	.	.	.	.	.	.	.	G	18.85	3.711436	0.68730	.	.	ENSG00000137642	ENST00000260197	D	0.92149	-2.98	5.24	5.24	0.73138	Six-bladed beta-propeller, TolB-like (1);	0.505294	0.21325	N	0.076394	D	0.95427	0.8515	M	0.84219	2.685	0.80722	D	1	D	0.63880	0.993	P	0.55667	0.781	D	0.95672	0.8724	10	0.59425	D	0.04	.	18.8284	0.92127	0.0:0.0:1.0:0.0	.	1017	Q92673	SORL_HUMAN	R	1017	ENSP00000260197:G1017R	ENSP00000260197:G1017R	G	+	1	0	SORL1	120935576	1.000000	0.71417	0.943000	0.38184	0.213000	0.24496	9.083000	0.94067	2.441000	0.82636	0.655000	0.94253	GGA		PASS	0.507	SORL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387626.2	NM_003105	Missense_Mutation	16	57	16	57	---	---	---	---
OR10G8	219869	broad.mit.edu	37	11	123900904	123900904	+	Nonsense_Mutation	SNP	C	C	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr11:123900904C>A	ENST00000431524.1	+	1	608	c.575C>A	c.(574-576)tCa>tAa	p.S192*		NM_001004464.1	NP_001004464.1	Q8NGN5	O10G8_HUMAN	olfactory receptor, family 10, subfamily G, member 8	192						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.S192*(1)		breast(1)|endometrium(7)|large_intestine(2)|lung(21)|ovary(1)|prostate(5)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	44		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0521)		GCAGACACCTCAGCCATAGAG	0.507																																						uc001pzp.1																			1	Substitution - Nonsense(1)		lung(1)	ovary(1)|skin(1)	2						c.(574-576)TCA>TAA		olfactory receptor, family 10, subfamily G,							204.0	179.0	188.0					11																	123900904		2201	4299	6500	SO:0001587	stop_gained	219869				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:123900904C>A	AB065755	CCDS31704.1	11q24.1	2012-08-09			ENSG00000234560	ENSG00000234560		"""GPCR / Class A : Olfactory receptors"""	14845	protein-coding gene	gene with protein product							Standard	NM_001004464		Approved		uc001pzp.1	Q8NGN5	OTTHUMG00000165968	ENST00000431524.1:c.575C>A	11.37:g.123900904C>A	ENSP00000389072:p.Ser192*						p.S192*	NM_001004464	NP_001004464	Q8NGN5	O10G8_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0521)	1	575	+		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)	192			Extracellular (Potential).		B2RNJ3|Q6IEV2	Nonsense_Mutation	SNP	ENST00000431524.1	37	c.575C>A	CCDS31704.1	.	.	.	.	.	.	.	.	.	.	C	7.789	0.711104	0.15239	.	.	ENSG00000234560	ENST00000431524	.	.	.	3.04	2.12	0.27331	.	0.562409	0.14900	N	0.291850	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.19147	T	0.46	.	5.967	0.19330	0.2341:0.6556:0.0:0.1102	.	.	.	.	X	192	.	ENSP00000389072:S192X	S	+	2	0	OR10G8	123406114	0.000000	0.05858	0.154000	0.22540	0.018000	0.09664	-2.354000	0.01089	0.603000	0.29913	-0.133000	0.14855	TCA		PASS	0.507	OR10G8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387270.1	NM_001004464		31	117	31	117	---	---	---	---
OR8D2	283160	broad.mit.edu	37	11	124189528	124189528	+	Missense_Mutation	SNP	C	C	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr11:124189528C>A	ENST00000357438.2	-	1	656	c.566G>T	c.(565-567)tGc>tTc	p.C189F		NM_001002918.1	NP_001002918.1	Q9GZM6	OR8D2_HUMAN	olfactory receptor, family 8, subfamily D, member 2	189						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.C189F(1)		breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(14)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	25		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0525)		GGTGCTGGAGCAAGACAGAGT	0.428																																						uc010sah.1																			1	Substitution - Missense(1)		lung(1)	breast(1)|central_nervous_system(1)|pancreas(1)	3						c.(565-567)TGC>TTC		olfactory receptor, family 8, subfamily D,							97.0	91.0	93.0					11																	124189528		2201	4299	6500	SO:0001583	missense	283160				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:124189528C>A	AF162668	CCDS31707.1	11q24.1	2012-08-09			ENSG00000197263	ENSG00000197263		"""GPCR / Class A : Olfactory receptors"""	8482	protein-coding gene	gene with protein product							Standard	NM_001002918		Approved		uc010sah.2	Q9GZM6	OTTHUMG00000165978	ENST00000357438.2:c.566G>T	11.37:g.124189528C>A	ENSP00000350022:p.Cys189Phe						p.C189F	NM_001002918	NP_001002918	Q9GZM6	OR8D2_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0525)	1	566	-		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)	189			Extracellular (Potential).		B9EH49|Q6IFR0	Missense_Mutation	SNP	ENST00000357438.2	37	c.566G>T	CCDS31707.1	.	.	.	.	.	.	.	.	.	.	c	23.0	4.360626	0.82353	.	.	ENSG00000197263	ENST00000357438	T	0.00460	7.27	3.55	2.62	0.31277	GPCR, rhodopsin-like superfamily (1);	0.000000	0.52532	D	0.000068	T	0.02494	0.0076	H	0.97390	3.995	0.45914	D	0.998752	D	0.89917	1.0	D	0.91635	0.999	T	0.11470	-1.0586	10	0.87932	D	0	.	11.7732	0.51970	0.0:0.9083:0.0:0.0917	.	189	Q9GZM6	OR8D2_HUMAN	F	189	ENSP00000350022:C189F	ENSP00000350022:C189F	C	-	2	0	OR8D2	123694738	0.997000	0.39634	0.237000	0.24090	0.953000	0.61014	3.942000	0.56614	1.097000	0.41459	0.530000	0.56133	TGC		PASS	0.428	OR8D2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387286.1	NM_001002918		19	50	19	50	---	---	---	---
ROBO4	54538	broad.mit.edu	37	11	124757010	124757010	+	Silent	SNP	G	G	A	rs372625769		TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr11:124757010G>A	ENST00000306534.3	-	15	2783	c.2298C>T	c.(2296-2298)tcC>tcT	p.S766S	ROBO4_ENST00000533054.1_Silent_p.S621S|RP11-664I21.5_ENST00000524453.1_RNA	NM_019055.5	NP_061928.4	Q8WZ75	ROBO4_HUMAN	roundabout, axon guidance receptor, homolog 4 (Drosophila)	766	Pro/Ser-rich.				angiogenesis (GO:0001525)|cell differentiation (GO:0030154)|negative regulation of cell migration (GO:0030336)|regulation of cell migration (GO:0030334)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	receptor activity (GO:0004872)	p.S766S(1)		NS(2)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(42)|ovary(1)|prostate(4)|skin(5)|urinary_tract(3)	76	all_hematologic(175;0.215)	Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|Breast(109;0.171)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0301)		GGCCAGAGAGGGAAGAGGCCT	0.677																																						uc001qbg.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|skin(1)	2						c.(2296-2298)TCC>TCT		roundabout homolog 4, magic roundabout				0,4402		0,0,2201	32.0	36.0	34.0		2298	2.7	1.0	11		34	1,8597	1.2+/-3.3	0,1,4298	no	coding-synonymous	ROBO4	NM_019055.5		0,1,6499	AA,AG,GG		0.0116,0.0,0.0077		766/1008	124757010	1,12999	2201	4299	6500	SO:0001819	synonymous_variant	54538				angiogenesis|cell differentiation	integral to membrane	receptor activity	g.chr11:124757010G>A	AF361473	CCDS8455.1, CCDS73409.1	11q24.2	2013-02-11	2011-12-09		ENSG00000154133	ENSG00000154133		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	17985	protein-coding gene	gene with protein product	"""magic roundabout"""	607528	"""roundabout homolog 4 (Drosophila)"""			11076864	Standard	NM_019055		Approved	FLJ20798, MRB, ECSM4	uc001qbg.3	Q8WZ75	OTTHUMG00000165936	ENST00000306534.3:c.2298C>T	11.37:g.124757010G>A						ROBO4_uc010sas.1_Silent_p.S621S|ROBO4_uc001qbh.2_Silent_p.S656S|ROBO4_uc001qbi.2_Silent_p.S324S	p.S766S	NM_019055	NP_061928	Q8WZ75	ROBO4_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0301)	15	2438	-	all_hematologic(175;0.215)	Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|Breast(109;0.171)|all_neural(223;0.224)	766			Pro/Ser-rich.		A8K154|Q14DU7|Q8TEG1|Q96JV6|Q9H718|Q9NWJ8	Silent	SNP	ENST00000306534.3	37	c.2298C>T	CCDS8455.1																																																																																				PASS	0.677	ROBO4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387111.1	NM_019055		10	42	10	42	---	---	---	---
ROBO4	54538	broad.mit.edu	37	11	124766560	124766560	+	Missense_Mutation	SNP	C	C	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr11:124766560C>A	ENST00000306534.3	-	3	892	c.407G>T	c.(406-408)cGg>cTg	p.R136L	ROBO4_ENST00000526899.1_5'UTR|ROBO4_ENST00000533054.1_5'UTR	NM_019055.5	NP_061928.4	Q8WZ75	ROBO4_HUMAN	roundabout, axon guidance receptor, homolog 4 (Drosophila)	136					angiogenesis (GO:0001525)|cell differentiation (GO:0030154)|negative regulation of cell migration (GO:0030336)|regulation of cell migration (GO:0030334)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	receptor activity (GO:0004872)	p.R136L(1)		NS(2)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(42)|ovary(1)|prostate(4)|skin(5)|urinary_tract(3)	76	all_hematologic(175;0.215)	Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|Breast(109;0.171)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0301)		GAAATCCTCCCGGAGGACTGT	0.622																																						uc001qbg.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(406-408)CGG>CTG		roundabout homolog 4, magic roundabout							26.0	29.0	28.0					11																	124766560		2201	4299	6500	SO:0001583	missense	54538				angiogenesis|cell differentiation	integral to membrane	receptor activity	g.chr11:124766560C>A	AF361473	CCDS8455.1, CCDS73409.1	11q24.2	2013-02-11	2011-12-09		ENSG00000154133	ENSG00000154133		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	17985	protein-coding gene	gene with protein product	"""magic roundabout"""	607528	"""roundabout homolog 4 (Drosophila)"""			11076864	Standard	NM_019055		Approved	FLJ20798, MRB, ECSM4	uc001qbg.3	Q8WZ75	OTTHUMG00000165936	ENST00000306534.3:c.407G>T	11.37:g.124766560C>A	ENSP00000304945:p.Arg136Leu					ROBO4_uc010sas.1_5'UTR|ROBO4_uc001qbh.2_Missense_Mutation_p.R26L|ROBO4_uc001qbi.2_5'Flank|ROBO4_uc010sat.1_5'Flank	p.R136L	NM_019055	NP_061928	Q8WZ75	ROBO4_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0301)	3	547	-	all_hematologic(175;0.215)	Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|Breast(109;0.171)|all_neural(223;0.224)	136					A8K154|Q14DU7|Q8TEG1|Q96JV6|Q9H718|Q9NWJ8	Missense_Mutation	SNP	ENST00000306534.3	37	c.407G>T	CCDS8455.1	.	.	.	.	.	.	.	.	.	.	C	17.33	3.362556	0.61403	.	.	ENSG00000154133	ENST00000306534;ENST00000374963	T	0.66099	-0.19	5.82	-5.55	0.02536	.	1.365360	0.05258	N	0.515248	T	0.51007	0.1649	M	0.66939	2.045	0.22034	N	0.999402	P;B	0.41475	0.751;0.002	B;B	0.28011	0.085;0.003	T	0.54159	-0.8335	10	0.49607	T	0.09	.	9.7737	0.40605	0.102:0.2416:0.0:0.6564	.	26;136	Q8WZ75-3;Q8WZ75	.;ROBO4_HUMAN	L	136;26	ENSP00000304945:R136L	ENSP00000304945:R136L	R	-	2	0	ROBO4	124271770	0.000000	0.05858	0.330000	0.25442	0.981000	0.71138	0.016000	0.13377	-1.019000	0.03358	0.555000	0.69702	CGG		PASS	0.622	ROBO4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387111.1	NM_019055		10	19	10	19	---	---	---	---
ST14	6768	broad.mit.edu	37	11	130058447	130058447	+	Missense_Mutation	SNP	G	G	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr11:130058447G>T	ENST00000278742.5	+	3	682	c.264G>T	c.(262-264)aaG>aaT	p.K88N		NM_021978.3	NP_068813.1	Q9Y5Y6	ST14_HUMAN	suppression of tumorigenicity 14 (colon carcinoma)	88	SEA. {ECO:0000255|PROSITE- ProRule:PRU00188}.				keratinocyte differentiation (GO:0030216)|proteolysis (GO:0006508)	basolateral plasma membrane (GO:0016323)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|extrinsic component of plasma membrane (GO:0019897)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)	p.K88N(1)		central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(12)|ovary(3)|pancreas(2)|prostate(1)|skin(3)	32	all_hematologic(175;0.0429)	Lung NSC(97;0.000602)|Breast(109;0.000962)|all_lung(97;0.00126)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0183)|Lung(977;0.228)	Urokinase(DB00013)	GTGTCCAGAAGGTCTTCAATG	0.557																																						uc001qfw.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(2)|central_nervous_system(1)	5						c.(262-264)AAG>AAT		matriptase	Urokinase(DB00013)						126.0	119.0	121.0					11																	130058447		2201	4297	6498	SO:0001583	missense	6768				proteolysis	integral to plasma membrane	serine-type endopeptidase activity	g.chr11:130058447G>T	AF118224	CCDS8487.1	11q24-q25	2011-08-31	2005-11-19		ENSG00000149418	ENSG00000149418		"""Serine peptidases / Transmembrane"""	11344	protein-coding gene	gene with protein product	"""epithin"", ""matriptase"""	606797		PRSS14		9925927, 10373424	Standard	NM_021978		Approved	SNC19, HAI, MT-SP1, TMPRSS14	uc001qfw.3	Q9Y5Y6	OTTHUMG00000165768	ENST00000278742.5:c.264G>T	11.37:g.130058447G>T	ENSP00000278742:p.Lys88Asn					ST14_uc010sca.1_5'Flank	p.K88N	NM_021978	NP_068813	Q9Y5Y6	ST14_HUMAN		OV - Ovarian serous cystadenocarcinoma(99;0.0183)|Lung(977;0.228)	3	457	+	all_hematologic(175;0.0429)	Lung NSC(97;0.000602)|Breast(109;0.000962)|all_lung(97;0.00126)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)	88			Extracellular (Potential).		Q9BS01|Q9H3S0|Q9HB36|Q9HCA3	Missense_Mutation	SNP	ENST00000278742.5	37	c.264G>T	CCDS8487.1	.	.	.	.	.	.	.	.	.	.	G	14.22	2.470138	0.43839	.	.	ENSG00000149418	ENST00000278742	T	0.40476	1.03	5.54	2.09	0.27110	SEA (1);	0.000000	0.34959	U	0.003557	T	0.57577	0.2063	M	0.75264	2.295	0.21386	N	0.99971	D	0.89917	1.0	D	0.81914	0.995	T	0.43410	-0.9393	10	0.45353	T	0.12	.	7.5185	0.27614	0.2115:0.1383:0.6502:0.0	.	88	Q9Y5Y6	ST14_HUMAN	N	88	ENSP00000278742:K88N	ENSP00000278742:K88N	K	+	3	2	ST14	129563657	1.000000	0.71417	0.095000	0.20976	0.380000	0.30137	1.952000	0.40343	0.662000	0.31006	0.655000	0.94253	AAG		PASS	0.557	ST14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386119.1			38	107	38	107	---	---	---	---
OPCML	4978	broad.mit.edu	37	11	132527091	132527091	+	Missense_Mutation	SNP	C	C	G			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr11:132527091C>G	ENST00000331898.7	-	2	869	c.291G>C	c.(289-291)caG>caC	p.Q97H	OPCML_ENST00000529038.1_5'UTR|OPCML_ENST00000524381.1_Missense_Mutation_p.Q90H|OPCML_ENST00000541867.1_Missense_Mutation_p.Q97H|OPCML_ENST00000374778.4_Missense_Mutation_p.Q56H	NM_002545.3	NP_002536.1	Q14982	OPCM_HUMAN	opioid binding protein/cell adhesion molecule-like	97	Ig-like C2-type 1.				cell adhesion (GO:0007155)|neuron recognition (GO:0008038)|opioid receptor signaling pathway (GO:0038003)	anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	opioid receptor activity (GO:0004985)	p.Q97H(1)|p.Q90H(1)		endometrium(5)|kidney(1)|large_intestine(12)|lung(17)|ovary(2)|skin(2)|urinary_tract(8)	47	all_hematologic(175;0.019)	all_cancers(12;5.86e-24)|all_epithelial(12;2.65e-17)|all_lung(97;2.89e-05)|Lung NSC(97;6.16e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0269)|all_neural(223;0.0326)|Esophageal squamous(93;0.129)		all cancers(11;4.61e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.012)		TGATGCTGTACTGGGTTGGTG	0.527																																						uc001qgs.2																			2	Substitution - Missense(2)		lung(2)	ovary(2)|skin(1)	3						c.(289-291)CAG>CAC		opioid binding protein/cell adhesion							247.0	185.0	206.0					11																	132527091		2201	4297	6498	SO:0001583	missense	4978				cell adhesion|neuron recognition	anchored to membrane|integral to plasma membrane	opioid receptor activity	g.chr11:132527091C>G	BX537377	CCDS8492.1, CCDS31722.1	11q25	2013-01-11	2001-11-28		ENSG00000183715	ENSG00000183715		"""Immunoglobulin superfamily / I-set domain containing"""	8143	protein-coding gene	gene with protein product	"""IgLON family member 1"""	600632	"""opioid-binding protein/cell adhesion molecule-like"""			8244387	Standard	XM_005271578		Approved	OPCM, OBCAM, IGLON1	uc001qgs.3	Q14982	OTTHUMG00000163658	ENST00000331898.7:c.291G>C	11.37:g.132527091C>G	ENSP00000330862:p.Gln97His					OPCML_uc001qgu.2_Missense_Mutation_p.Q90H|OPCML_uc010sck.1_Missense_Mutation_p.Q97H|OPCML_uc001qgt.2_Missense_Mutation_p.Q97H|OPCML_uc010scl.1_Missense_Mutation_p.Q56H	p.Q97H	NM_002545	NP_002536	Q14982	OPCM_HUMAN		all cancers(11;4.61e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.012)	2	341	-	all_hematologic(175;0.019)	all_cancers(12;5.86e-24)|all_epithelial(12;2.65e-17)|all_lung(97;2.89e-05)|Lung NSC(97;6.16e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0269)|all_neural(223;0.0326)|Esophageal squamous(93;0.129)	97			Ig-like C2-type 1.		B2CZX2|B7ZLQ1|Q17RN7|Q7Z3W6	Missense_Mutation	SNP	ENST00000331898.7	37	c.291G>C	CCDS8492.1	.	.	.	.	.	.	.	.	.	.	C	16.81	3.226915	0.58668	.	.	ENSG00000183715	ENST00000331898;ENST00000524381;ENST00000374778;ENST00000541867	T;T;T;T	0.67171	-0.25;-0.25;-0.25;-0.25	5.83	4.9	0.64082	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.061948	0.64402	D	0.000004	T	0.63558	0.2521	L	0.46157	1.445	0.48830	D	0.999714	B;B;B;B	0.20459	0.004;0.045;0.004;0.004	B;B;B;B	0.27076	0.076;0.076;0.076;0.076	T	0.62369	-0.6869	10	0.62326	D	0.03	-11.5401	15.3582	0.74443	0.0:0.9321:0.0:0.0679	.	97;90;97;97	B7ZLQ1;Q7Z3W6;B7ZLQ0;Q14982	.;.;.;OPCM_HUMAN	H	97;90;56;97	ENSP00000330862:Q97H;ENSP00000434750:Q90H;ENSP00000363910:Q56H;ENSP00000445496:Q97H	ENSP00000330862:Q97H	Q	-	3	2	OPCML	132032301	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.288000	0.51739	1.442000	0.47568	0.655000	0.94253	CAG		PASS	0.527	OPCML-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374689.3	NM_001012393		32	96	32	96	---	---	---	---
CACNA2D4	93589	broad.mit.edu	37	12	1995152	1995152	+	Missense_Mutation	SNP	C	C	A	rs375818218		TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr12:1995152C>A	ENST00000382722.5	-	9	1409	c.1047G>T	c.(1045-1047)caG>caT	p.Q349H	CACNA2D4_ENST00000586184.1_Missense_Mutation_p.Q349H|CACNA2D4_ENST00000588077.1_Missense_Mutation_p.Q285H|CACNA2D4_ENST00000585732.1_Missense_Mutation_p.Q265H|CACNA2D4_ENST00000587995.1_Missense_Mutation_p.Q349H|CACNA2D4_ENST00000585708.1_Missense_Mutation_p.Q285H	NM_172364.4	NP_758952.4	Q7Z3S7	CA2D4_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 4	349	VWFA. {ECO:0000255|PROSITE- ProRule:PRU00219}.				calcium ion transmembrane transport (GO:0070588)|detection of light stimulus involved in visual perception (GO:0050908)	voltage-gated calcium channel complex (GO:0005891)	metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)	p.Q349H(2)		endometrium(3)|kidney(2)|large_intestine(1)|liver(1)|lung(27)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	39	Ovarian(42;0.107)	Myeloproliferative disorder(1001;0.206)	OV - Ovarian serous cystadenocarcinoma(31;0.00113)	Kidney(2;0.0205)|KIRC - Kidney renal clear cell carcinoma(2;0.0451)		CTCGGTCCGCCTGGACGAGGA	0.537																																					Colon(2;101 179 21030 23310 28141)	uc001qjp.2																			2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(1045-1047)CAG>CAT		voltage-gated calcium channel alpha(2)delta-4							60.0	64.0	63.0					12																	1995152		2032	4178	6210	SO:0001583	missense	93589					integral to membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity	g.chr12:1995152C>A	AF516695	CCDS44785.1	12p13.33	2003-03-05			ENSG00000151062	ENSG00000151062		"""Calcium channel subunits"""	20202	protein-coding gene	gene with protein product		608171				12181424	Standard	NM_172364		Approved		uc021qsx.1	Q7Z3S7	OTTHUMG00000168111	ENST00000382722.5:c.1047G>T	12.37:g.1995152C>A	ENSP00000372169:p.Gln349His					CACNA2D4_uc009zds.1_RNA|CACNA2D4_uc009zdt.1_Missense_Mutation_p.Q265H	p.Q349H	NM_172364	NP_758952	Q7Z3S7	CA2D4_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.00113)	Kidney(2;0.0205)|KIRC - Kidney renal clear cell carcinoma(2;0.0451)	9	1278	-	Ovarian(42;0.107)	Myeloproliferative disorder(1001;0.206)	349			VWFA.|Extracellular (Potential).		Q7Z3S8|Q86XZ5|Q8IZS9	Missense_Mutation	SNP	ENST00000382722.5	37	c.1047G>T	CCDS44785.1	.	.	.	.	.	.	.	.	.	.	C	17.80	3.477537	0.63849	.	.	ENSG00000151062	ENST00000456077;ENST00000280663;ENST00000382722	T	0.07688	3.17	5.07	1.88	0.25563	von Willebrand factor, type A (3);	0.050470	0.85682	D	0.000000	T	0.29423	0.0733	M	0.89214	3.015	0.51233	D	0.999914	D;D	0.76494	0.998;0.999	D;D	0.77557	0.967;0.99	T	0.01496	-1.1340	10	0.87932	D	0	.	8.5183	0.33259	0.0:0.5602:0.0:0.4398	.	349;349	Q7Z3S7-2;Q7Z3S7	.;CA2D4_HUMAN	H	285;349;349	ENSP00000372169:Q349H	ENSP00000280663:Q349H	Q	-	3	2	CACNA2D4	1865413	0.992000	0.36948	0.998000	0.56505	0.984000	0.73092	0.274000	0.18680	0.070000	0.16634	0.462000	0.41574	CAG		PASS	0.537	CACNA2D4-001	KNOWN	non_canonical_U12|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000398230.2			25	26	25	26	---	---	---	---
KCNA5	3741	broad.mit.edu	37	12	5154071	5154071	+	Missense_Mutation	SNP	C	C	G			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr12:5154071C>G	ENST00000252321.3	+	1	987	c.758C>G	c.(757-759)gCc>gGc	p.A253G		NM_002234.3	NP_002225.2	P22460	KCNA5_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 5	253					atrial cardiac muscle cell action potential (GO:0086014)|membrane hyperpolarization (GO:0060081)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|negative regulation of potassium ion transport (GO:0043267)|positive regulation of G1/S transition of mitotic cell cycle (GO:1900087)|positive regulation of myoblast proliferation (GO:2000288)|potassium ion export (GO:0071435)|potassium ion homeostasis (GO:0055075)|potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|regulation of atrial cardiac muscle cell membrane repolarization (GO:0060372)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of insulin secretion (GO:0050796)|regulation of membrane potential (GO:0042391)|regulation of potassium ion transport (GO:0043266)|regulation of vasoconstriction (GO:0019229)|response to hypoxia (GO:0001666)|synaptic transmission (GO:0007268)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|intercalated disc (GO:0014704)|intracellular canaliculus (GO:0046691)|membrane raft (GO:0045121)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)|Z disc (GO:0030018)	alpha-actinin binding (GO:0051393)|delayed rectifier potassium channel activity (GO:0005251)|outward rectifier potassium channel activity (GO:0015271)|potassium channel inhibitor activity (GO:0019870)|protein kinase binding (GO:0019901)|scaffold protein binding (GO:0097110)|voltage-gated potassium channel activity involved in atrial cardiac muscle cell action potential repolarization (GO:0086089)	p.A253G(1)		NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|liver(1)|lung(21)|ovary(5)|prostate(2)|upper_aerodigestive_tract(2)	52					Dalfampridine(DB06637)	CGGGCCATCGCCATCGTCTCG	0.592																																						uc001qni.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|breast(2)	4						c.(757-759)GCC>GGC		potassium voltage-gated channel, shaker-related							111.0	119.0	117.0					12																	5154071		2203	4300	6503	SO:0001583	missense	3741					Golgi apparatus|voltage-gated potassium channel complex	delayed rectifier potassium channel activity	g.chr12:5154071C>G	M83254	CCDS8536.1	12p13	2012-07-05				ENSG00000130037		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6224	protein-coding gene	gene with protein product		176267				16382104	Standard	NM_002234		Approved	Kv1.5, HK2, HPCN1	uc001qni.4	P22460		ENST00000252321.3:c.758C>G	12.37:g.5154071C>G	ENSP00000252321:p.Ala253Gly						p.A253G	NM_002234	NP_002225	P22460	KCNA5_HUMAN			1	987	+			253			Helical; Name=Segment S1; (Potential).		Q4KKT8|Q4VAJ1|Q4VAJ2|Q9UDA4	Missense_Mutation	SNP	ENST00000252321.3	37	c.758C>G	CCDS8536.1	.	.	.	.	.	.	.	.	.	.	C	23.1	4.373256	0.82573	.	.	ENSG00000130037	ENST00000252321	T	0.71103	-0.54	4.77	4.77	0.60923	.	0.000000	0.64402	U	0.000001	D	0.82287	0.5004	M	0.77820	2.39	0.80722	D	1	P	0.45569	0.861	P	0.56960	0.81	D	0.84953	0.0872	10	0.87932	D	0	.	16.9696	0.86295	0.0:1.0:0.0:0.0	.	253	P22460	KCNA5_HUMAN	G	253	ENSP00000252321:A253G	ENSP00000252321:A253G	A	+	2	0	KCNA5	5024332	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	7.584000	0.82572	2.478000	0.83669	0.561000	0.74099	GCC		PASS	0.592	KCNA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398925.2	NM_002234		123	192	123	192	---	---	---	---
NTF3	4908	broad.mit.edu	37	12	5603961	5603961	+	Missense_Mutation	SNP	G	G	C			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr12:5603961G>C	ENST00000331010.6	+	1	664	c.581G>C	c.(580-582)cGa>cCa	p.R194P	NTF3_ENST00000423158.3_Missense_Mutation_p.R207P|NTF3_ENST00000535299.1_Intron	NM_002527.4	NP_002518.1	P20783	NTF3_HUMAN	neurotrophin 3	194					activation of MAPK activity (GO:0000187)|activation of protein kinase B activity (GO:0032148)|activation of Ras GTPase activity (GO:0032856)|axon guidance (GO:0007411)|brain development (GO:0007420)|cell-cell signaling (GO:0007267)|enteric nervous system development (GO:0048484)|epidermis development (GO:0008544)|glial cell fate determination (GO:0007403)|induction of positive chemotaxis (GO:0050930)|mechanoreceptor differentiation (GO:0042490)|myelination (GO:0042552)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of peptidyl-tyrosine phosphorylation (GO:0050732)|nerve development (GO:0021675)|nervous system development (GO:0007399)|neuromuscular synaptic transmission (GO:0007274)|peripheral nervous system development (GO:0007422)|positive chemotaxis (GO:0050918)|positive regulation of actin cytoskeleton reorganization (GO:2000251)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of glial cell differentiation (GO:0045687)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of receptor internalization (GO:0002092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of synaptic transmission (GO:0050804)|signal transduction (GO:0007165)|smooth muscle cell differentiation (GO:0051145)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cytoplasmic membrane-bounded vesicle (GO:0016023)|extracellular region (GO:0005576)	chemoattractant activity (GO:0042056)|growth factor activity (GO:0008083)|receptor binding (GO:0005102)	p.R194P(1)		endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(10)|ovary(1)|pancreas(3)|upper_aerodigestive_tract(1)	22						TATGAAACGCGATGTAAGGAA	0.507																																					GBM(194;1104 2182 8339 9578 18493)	uc001qnl.3																			1	Substitution - Missense(1)		lung(1)	pancreas(1)	1						c.(580-582)CGA>CCA		neurotrophin 3 isoform 2 preproprotein							56.0	55.0	56.0					12																	5603961		2203	4300	6503	SO:0001583	missense	4908				signal transduction	extracellular region	growth factor activity|neurotrophin receptor binding	g.chr12:5603961G>C		CCDS8538.1, CCDS44806.1	12p13	2014-01-30			ENSG00000185652	ENSG00000185652		"""Endogenous ligands"""	8023	protein-coding gene	gene with protein product		162660				1889806	Standard	NM_002527		Approved	NGF2	uc001qnk.4	P20783	OTTHUMG00000168649	ENST00000331010.6:c.581G>C	12.37:g.5603961G>C	ENSP00000328738:p.Arg194Pro					NTF3_uc001qnk.3_Missense_Mutation_p.R207P	p.R194P	NM_002527	NP_002518	P20783	NTF3_HUMAN			1	664	+			194					B7Z1T5|Q6FH50	Missense_Mutation	SNP	ENST00000331010.6	37	c.581G>C	CCDS8538.1	.	.	.	.	.	.	.	.	.	.	G	17.61	3.431229	0.62844	.	.	ENSG00000185652	ENST00000423158;ENST00000331010	T;T	0.69175	-0.38;-0.38	5.45	5.45	0.79879	Nerve growth factor-related (5);	0.049532	0.64402	D	0.000001	T	0.79736	0.4497	M	0.64997	1.995	0.50632	D	0.999886	D;D	0.76494	0.999;0.999	D;D	0.66196	0.942;0.942	T	0.81424	-0.0939	10	0.87932	D	0	-29.9681	18.2818	0.90101	0.0:0.0:1.0:0.0	.	194;207	P20783;B7Z1T5	NTF3_HUMAN;.	P	207;194	ENSP00000397297:R207P;ENSP00000328738:R194P	ENSP00000328738:R194P	R	+	2	0	NTF3	5474222	1.000000	0.71417	0.985000	0.45067	0.987000	0.75469	3.780000	0.55386	2.583000	0.87209	0.650000	0.86243	CGA		PASS	0.507	NTF3-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000400486.1			64	86	64	86	---	---	---	---
VWF	7450	broad.mit.edu	37	12	6125732	6125732	+	Nonsense_Mutation	SNP	A	A	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr12:6125732A>T	ENST00000261405.5	-	30	5515	c.5261T>A	c.(5260-5262)tTg>tAg	p.L1754*		NM_000552.3	NP_000543	P04275	VWF_HUMAN	von Willebrand factor	1754	VWFA 3; main binding site for collagens type I and III. {ECO:0000255|PROSITE- ProRule:PRU00219}.				blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|cell adhesion (GO:0007155)|cell-substrate adhesion (GO:0031589)|extracellular matrix organization (GO:0030198)|hemostasis (GO:0007599)|liver development (GO:0001889)|placenta development (GO:0001890)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|protein homooligomerization (GO:0051260)|response to wounding (GO:0009611)	endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|platelet alpha granule (GO:0031091)|platelet alpha granule lumen (GO:0031093)|proteinaceous extracellular matrix (GO:0005578)|Weibel-Palade body (GO:0033093)	chaperone binding (GO:0051087)|collagen binding (GO:0005518)|glycoprotein binding (GO:0001948)|identical protein binding (GO:0042802)|immunoglobulin binding (GO:0019865)|integrin binding (GO:0005178)|protease binding (GO:0002020)|protein homodimerization activity (GO:0042803)|protein N-terminus binding (GO:0047485)	p.L1754*(1)		NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5)	129					Antihemophilic Factor(DB00025)	AAGGCTCAGCAAATGGGCTTT	0.562																																						uc001qnn.1																			1	Substitution - Nonsense(1)		lung(1)	skin(4)|ovary(3)|pancreas(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|breast(1)	12						c.(5260-5262)TTG>TAG		von Willebrand factor preproprotein	Antihemophilic Factor(DB00025)						72.0	64.0	66.0					12																	6125732		2203	4300	6503	SO:0001587	stop_gained	7450				blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization	endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix|Weibel-Palade body	chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein homodimerization activity|protein N-terminus binding	g.chr12:6125732A>T		CCDS8539.1	12p13.3	2014-09-17			ENSG00000110799	ENSG00000110799		"""Endogenous ligands"""	12726	protein-coding gene	gene with protein product		613160		F8VWF		2251280	Standard	NM_000552		Approved		uc001qnn.1	P04275	OTTHUMG00000168265	ENST00000261405.5:c.5261T>A	12.37:g.6125732A>T	ENSP00000261405:p.Leu1754*					VWF_uc010set.1_Intron	p.L1754*	NM_000552	NP_000543	P04275	VWF_HUMAN			30	5511	-			1754			VWFA 3; main binding site for collagens type I and III.		Q8TCE8|Q99806	Nonsense_Mutation	SNP	ENST00000261405.5	37	c.5261T>A	CCDS8539.1	.	.	.	.	.	.	.	.	.	.	.	43	10.419888	0.99402	.	.	ENSG00000110799	ENST00000261405	.	.	.	4.1	4.1	0.47936	.	0.000000	0.30658	N	0.009151	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	12.3894	0.55350	1.0:0.0:0.0:0.0	.	.	.	.	X	1754	.	ENSP00000261405:L1754X	L	-	2	0	VWF	5995993	0.594000	0.26849	0.002000	0.10522	0.031000	0.12232	6.818000	0.75257	1.861000	0.53984	0.454000	0.30748	TTG		PASS	0.562	VWF-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399020.1	NM_000552		40	72	40	72	---	---	---	---
TNFRSF1A	7132	broad.mit.edu	37	12	6438776	6438776	+	Missense_Mutation	SNP	G	G	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr12:6438776G>A	ENST00000162749.2	-	10	1369	c.1070C>T	c.(1069-1071)gCg>gTg	p.A357V	TNFRSF1A_ENST00000437813.3_5'Flank|TNFRSF1A_ENST00000540022.1_Missense_Mutation_p.A314V	NM_001065.3	NP_001056.1	P19438	TNR1A_HUMAN	tumor necrosis factor receptor superfamily, member 1A	357	Death. {ECO:0000255|PROSITE- ProRule:PRU00064}.				apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|cellular response to estradiol stimulus (GO:0071392)|cellular response to mechanical stimulus (GO:0071260)|cytokine-mediated signaling pathway (GO:0019221)|defense response to bacterium (GO:0042742)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|inflammatory response (GO:0006954)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|negative regulation of apoptotic process (GO:0043066)|negative regulation of gene expression (GO:0010629)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-6 production (GO:0032715)|positive regulation of angiogenesis (GO:0045766)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of inflammatory response (GO:0050729)|positive regulation of protein import into nucleus, translocation (GO:0033160)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|positive regulation of tyrosine phosphorylation of Stat1 protein (GO:0042511)|prostaglandin metabolic process (GO:0006693)|protein heterooligomerization (GO:0051291)|response to alkaloid (GO:0043279)|response to amino acid (GO:0043200)|response to ethanol (GO:0045471)|response to hypoxia (GO:0001666)|response to lipopolysaccharide (GO:0032496)|response to wounding (GO:0009611)|tetrapyrrole metabolic process (GO:0033013)|viral process (GO:0016032)	axon (GO:0030424)|cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	tumor necrosis factor-activated receptor activity (GO:0005031)	p.A357V(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(5)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	19						GTACAGCGTCGCGGGGTCATC	0.726																																						uc001qnu.2																			1	Substitution - Missense(1)		lung(1)	lung(2)|skin(1)	3						c.(1069-1071)GCG>GTG		tumor necrosis factor receptor 1 precursor							11.0	13.0	12.0					12																	6438776		2190	4287	6477	SO:0001583	missense	7132				apoptosis|cellular response to mechanical stimulus|induction of apoptosis by extracellular signals|inflammatory response|interspecies interaction between organisms|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of inflammatory response|positive regulation of transcription from RNA polymerase II promoter|prostaglandin metabolic process	extracellular region|integral to plasma membrane|membrane raft	tumor necrosis factor receptor activity	g.chr12:6438776G>A	M75866	CCDS8542.1	12p13.2	2014-09-17			ENSG00000067182	ENSG00000067182		"""Tumor necrosis factor receptor superfamily"", ""CD molecules"""	11916	protein-coding gene	gene with protein product		191190		TNFR1		1655358, 2158863	Standard	NM_001065		Approved	TNF-R, TNFAR, TNFR60, TNF-R-I, CD120a, TNF-R55	uc001qnu.3	P19438	OTTHUMG00000168267	ENST00000162749.2:c.1070C>T	12.37:g.6438776G>A	ENSP00000162749:p.Ala357Val					TNFRSF1A_uc001qnt.2_Missense_Mutation_p.A249V|TNFRSF1A_uc010sey.1_Missense_Mutation_p.A125V|TNFRSF1A_uc010sez.1_Missense_Mutation_p.A249V|TNFRSF1A_uc009zek.2_Missense_Mutation_p.A314V	p.A357V	NM_001065	NP_001056	P19438	TNR1A_HUMAN			10	1351	-			357			Death.|Cytoplasmic (Potential).		A8K4X3|B2RDE4|B3KPQ1|B4DQB7|B4E309|B5M0B5|D3DUR1|Q9UCA4	Missense_Mutation	SNP	ENST00000162749.2	37	c.1070C>T	CCDS8542.1	.	.	.	.	.	.	.	.	.	.	G	15.87	2.961025	0.53400	.	.	ENSG00000067182	ENST00000162749;ENST00000540022	D;D	0.93547	-3.24;-3.24	4.6	3.69	0.42338	Death (2);DEATH-like (2);	0.793452	0.12043	N	0.504829	D	0.87977	0.6314	L	0.39633	1.23	0.25875	N	0.983661	P;P	0.44776	0.774;0.843	B;B	0.38264	0.071;0.269	T	0.78445	-0.2201	10	0.31617	T	0.26	-12.6629	7.6853	0.28536	0.1974:0.0:0.8026:0.0	.	314;357	F5H061;P19438	.;TNR1A_HUMAN	V	357;314	ENSP00000162749:A357V;ENSP00000438343:A314V	ENSP00000162749:A357V	A	-	2	0	TNFRSF1A	6309037	0.010000	0.17322	0.016000	0.15963	0.127000	0.20565	0.909000	0.28558	1.032000	0.39892	0.561000	0.74099	GCG		PASS	0.726	TNFRSF1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399038.1	NM_001065		5	33	5	33	---	---	---	---
GAPDH	2597	broad.mit.edu	37	12	6645907	6645907	+	Missense_Mutation	SNP	G	G	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr12:6645907G>A	ENST00000229239.5	+	4	853	c.187G>A	c.(187-189)Gag>Aag	p.E63K	RP5-940J5.9_ENST00000602946.1_RNA|GAPDH_ENST00000396861.1_Missense_Mutation_p.E63K|GAPDH_ENST00000396856.1_5'UTR|GAPDH_ENST00000396858.1_Missense_Mutation_p.E21K|GAPDH_ENST00000396859.1_Missense_Mutation_p.E63K	NM_002046.4	NP_002037.2	P04406	G3P_HUMAN	glyceraldehyde-3-phosphate dehydrogenase	63	Interaction with WARS.				carbohydrate metabolic process (GO:0005975)|cellular response to interferon-gamma (GO:0071346)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|microtubule cytoskeleton organization (GO:0000226)|negative regulation of translation (GO:0017148)|neuron apoptotic process (GO:0051402)|peptidyl-cysteine S-trans-nitrosylation (GO:0035606)|protein stabilization (GO:0050821)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|GAIT complex (GO:0097452)|lipid particle (GO:0005811)|membrane (GO:0016020)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ribonucleoprotein complex (GO:0030529)|vesicle (GO:0031982)	glyceraldehyde-3-phosphate dehydrogenase (NAD+) (phosphorylating) activity (GO:0004365)|identical protein binding (GO:0042802)|microtubule binding (GO:0008017)|NAD binding (GO:0051287)|NADP binding (GO:0050661)|peptidyl-cysteine S-nitrosylase activity (GO:0035605)	p.E63K(1)		central_nervous_system(1)|cervix(1)|endometrium(1)|lung(4)	7						CGTCAAGGCTGAGAACGGGAA	0.498																																						uc001qop.1																			1	Substitution - Missense(1)		lung(1)		0						c.(187-189)GAG>AAG		glyceraldehyde-3-phosphate dehydrogenase	NADH(DB00157)						116.0	109.0	111.0					12																	6645907		2203	4298	6501	SO:0001583	missense	2597				gluconeogenesis|glycolysis|neuron apoptosis|peptidyl-cysteine S-trans-nitrosylation|protein stabilization	cytosol|membrane|nucleus|perinuclear region of cytoplasm	glyceraldehyde-3-phosphate dehydrogenase (NAD+) (phosphorylating) activity|NAD binding|peptidyl-cysteine S-nitrosylase activity|protein binding	g.chr12:6645907G>A	AF261085	CCDS8549.1, CCDS58201.1	12p13.31	2012-10-02		2005-05-06	ENSG00000111640	ENSG00000111640	1.2.1.12		4141	protein-coding gene	gene with protein product		138400		GAPD		3170585	Standard	NM_002046		Approved		uc001qop.2	P04406	OTTHUMG00000137379	ENST00000229239.5:c.187G>A	12.37:g.6645907G>A	ENSP00000229239:p.Glu63Lys					GAPDH_uc009zep.1_Missense_Mutation_p.E21K|GAPDH_uc001qoq.1_5'UTR|GAPDH_uc001qor.1_5'UTR|GAPDH_uc001qos.1_Missense_Mutation_p.E63K|GAPDH_uc001qot.1_Missense_Mutation_p.E63K|GAPDH_uc001qou.1_5'UTR|GAPDH_uc001qov.1_Missense_Mutation_p.E21K|GAPDH_uc001qow.1_Silent_p.L14L|GAPDH_uc001qox.1_5'Flank	p.E63K	NM_002046	NP_002037	P04406	G3P_HUMAN			4	289	+			63			Interaction with WARS.		E7EUT4|P00354|Q53X65	Missense_Mutation	SNP	ENST00000229239.5	37	c.187G>A	CCDS8549.1	.	.	.	.	.	.	.	.	.	.	G	22.2	4.259835	0.80246	.	.	ENSG00000111640	ENST00000229239;ENST00000450282;ENST00000396861;ENST00000396859;ENST00000396858	T;T;T;T	0.50277	0.75;0.75;0.75;0.75	5.36	5.36	0.76844	Glyceraldehyde 3-phosphate dehydrogenase, NAD(P) binding domain (2);NAD(P)-binding domain (1);	0.122605	0.53938	D	0.000051	T	0.47764	0.1463	L	0.59912	1.85	0.52099	D	0.99994	B	0.14438	0.01	B	0.15052	0.012	T	0.37454	-0.9705	10	0.27785	T	0.31	.	19.0895	0.93221	0.0:0.0:1.0:0.0	.	63	P04406	G3P_HUMAN	K	63;63;63;63;21	ENSP00000229239:E63K;ENSP00000380070:E63K;ENSP00000380068:E63K;ENSP00000380067:E21K	ENSP00000229239:E63K	E	+	1	0	GAPDH	6516168	1.000000	0.71417	0.998000	0.56505	0.727000	0.41649	9.697000	0.98697	2.509000	0.84616	0.561000	0.74099	GAG		PASS	0.498	GAPDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268059.1	NM_002046		97	138	97	138	---	---	---	---
CLEC6A	93978	broad.mit.edu	37	12	8629926	8629926	+	Silent	SNP	C	C	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr12:8629926C>T	ENST00000382073.3	+	6	682	c.496C>T	c.(496-498)Cta>Tta	p.L166L		NM_001007033.1	NP_001007034.1	Q6EIG7	CLC6A_HUMAN	C-type lectin domain family 6, member A	166	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				defense response to fungus (GO:0050832)|innate immune response (GO:0045087)|positive regulation of cytokine secretion (GO:0050715)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)	integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)	p.L166L(1)		breast(1)|large_intestine(2)|lung(7)	10	Lung SC(5;0.184)					ATTTTGGCACCTAGGTGAGCC	0.403																																						uc001qum.1																			1	Substitution - coding silent(1)		lung(1)	breast(1)	1						c.(496-498)CTA>TTA		dectin-2							151.0	142.0	145.0					12																	8629926		2203	4300	6503	SO:0001819	synonymous_variant	93978				defense response to fungus|innate immune response|positive regulation of cytokine secretion|positive regulation of I-kappaB kinase/NF-kappaB cascade	integral to membrane	sugar binding	g.chr12:8629926C>T	AY321309	CCDS31739.1	12p13	2005-09-21	2005-02-09	2005-02-11	ENSG00000205846	ENSG00000205846		"""C-type lectin domain containing"""	14556	protein-coding gene	gene with protein product		613579	"""C-type (calcium dependent, carbohydrate-recognition domain) lectin, superfamily member 10"""	CLECSF10			Standard	NM_001007033		Approved	dectin-2	uc001qum.1	Q6EIG7	OTTHUMG00000168672	ENST00000382073.3:c.496C>T	12.37:g.8629926C>T							p.L166L	NM_001007033	NP_001007034	Q6EIG7	CLC6A_HUMAN			6	613	+	Lung SC(5;0.184)		166			Extracellular (Potential).|C-type lectin.		A2RUK3	Silent	SNP	ENST00000382073.3	37	c.496C>T	CCDS31739.1																																																																																				PASS	0.403	CLEC6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400562.1	NM_001007033		66	219	66	219	---	---	---	---
PZP	5858	broad.mit.edu	37	12	9356370	9356370	+	Silent	SNP	G	G	C			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr12:9356370G>C	ENST00000261336.2	-	2	289	c.261C>G	c.(259-261)tcC>tcG	p.S87S	PZP_ENST00000381997.2_5'Flank	NM_002864.2	NP_002855.2	P20742	PZP_HUMAN	pregnancy-zone protein	87					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.S87S(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						TCACAGTGAAGGAGACACAGT	0.512																																					Melanoma(125;1402 1695 4685 34487 38571)	uc001qvl.2																			1	Substitution - coding silent(1)		lung(1)	ovary(3)|upper_aerodigestive_tract(1)|large_intestine(1)	5						c.(259-261)TCC>TCG		pregnancy-zone protein precursor							96.0	80.0	86.0					12																	9356370		2203	4300	6503	SO:0001819	synonymous_variant	5858							g.chr12:9356370G>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.261C>G	12.37:g.9356370G>C						PZP_uc009zgl.2_5'UTR	p.S87S	NM_002864	NP_002855					2	290	-								A6ND27|Q15273|Q2NKL2|Q7M4N7	Silent	SNP	ENST00000261336.2	37	c.261C>G	CCDS8600.1																																																																																				PASS	0.512	PZP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337624.1	NM_002864		43	123	43	123	---	---	---	---
CLEC2D	29121	broad.mit.edu	37	12	9845509	9845509	+	Missense_Mutation	SNP	G	G	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr12:9845509G>T	ENST00000290855.6	+	4	465	c.443G>T	c.(442-444)gGt>gTt	p.G148V	CLEC2D_ENST00000545918.1_Intron|CLEC2D_ENST00000543300.1_Intron|CLEC2D_ENST00000261340.7_Missense_Mutation_p.G148V|CLEC2D_ENST00000261339.6_Missense_Mutation_p.G111V	NM_013269.5	NP_037401.1	Q9UHP7	CLC2D_HUMAN	C-type lectin domain family 2, member D	148	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				cell surface receptor signaling pathway (GO:0007166)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	carbohydrate binding (GO:0030246)|transmembrane signaling receptor activity (GO:0004888)	p.G148V(2)		endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|prostate(2)|stomach(1)	9						TGGATAAATGGTACTGAATGG	0.363																																						uc001qwg.1																			2	Substitution - Missense(2)		lung(2)		0						c.(442-444)GGT>GTT		osteoclast inhibitory lectin isoform 1							87.0	86.0	86.0					12																	9845509		2203	4300	6503	SO:0001583	missense	29121				cell surface receptor linked signaling pathway	cell surface|endoplasmic reticulum|integral to plasma membrane|membrane fraction	sugar binding|transmembrane receptor activity	g.chr12:9845509G>T	AF133299	CCDS8602.1, CCDS31741.1, CCDS55800.1, CCDS55801.1, CCDS55802.1	12p13.31	2011-05-24	2005-09-29		ENSG00000069493	ENSG00000069493		"""C-type lectin domain containing"""	14351	protein-coding gene	gene with protein product	"""C-type lectin related f"", ""lectin-like transcript 1"""	605659	"""C-type lectin superfamily 2, member D"""				Standard	NM_013269		Approved	LLT1, CLAX, OCIL	uc001qwf.3	Q9UHP7	OTTHUMG00000168369	ENST00000290855.6:c.443G>T	12.37:g.9845509G>T	ENSP00000290855:p.Gly148Val					CLEC2D_uc001qwf.1_Missense_Mutation_p.G148V|CLEC2D_uc009zgs.1_RNA|CLEC2D_uc001qwh.1_RNA|CLEC2D_uc009zgt.1_Intron|CLEC2D_uc009zgu.1_Intron	p.G148V	NM_013269	NP_037401	Q9UHP7	CLC2D_HUMAN			4	465	+			148			Extracellular (Potential).|C-type lectin.		D6CI39|D6CI40|D6CI41|Q6YID5|Q8WUP7|Q9HD37|Q9HD38	Missense_Mutation	SNP	ENST00000290855.6	37	c.443G>T	CCDS8602.1	.	.	.	.	.	.	.	.	.	.	G	12.14	1.847875	0.32606	.	.	ENSG00000069493	ENST00000261340;ENST00000290855;ENST00000261339;ENST00000466035;ENST00000430909;ENST00000460309	T;T;T;T;T;T	0.34859	1.34;1.34;1.96;1.96;1.96;1.96	3.34	-0.748	0.11087	C-type lectin fold (1);C-type lectin-like (1);C-type lectin (3);	0.000000	0.38217	U	0.001770	T	0.62196	0.2408	H	0.94847	3.59	0.20703	N	0.999867	D;D	0.71674	0.998;0.998	D;D	0.77004	0.989;0.983	T	0.54344	-0.8308	9	.	.	.	-13.8664	6.3791	0.21523	0.5244:0.0:0.4756:0.0	.	148;148	Q9UHP7;Q9UHP7-3	CLC2D_HUMAN;.	V	148;148;111;105;127;91	ENSP00000261340:G148V;ENSP00000290855:G148V;ENSP00000261339:G111V;ENSP00000446028:G105V;ENSP00000413045:G127V;ENSP00000443177:G91V	.	G	+	2	0	CLEC2D	9736776	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.304000	0.19228	-0.310000	0.08766	-0.466000	0.05196	GGT		PASS	0.363	CLEC2D-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000335424.2	NM_013269		26	71	26	71	---	---	---	---
TAS2R10	50839	broad.mit.edu	37	12	10978682	10978682	+	Missense_Mutation	SNP	T	T	C			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr12:10978682T>C	ENST00000240619.2	-	1	275	c.187A>G	c.(187-189)Aca>Gca	p.T63A		NM_023921.1	NP_076410.1	Q9NYW0	T2R10_HUMAN	taste receptor, type 2, member 10	63					detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	bitter taste receptor activity (GO:0033038)|taste receptor activity (GO:0008527)	p.T63A(1)		breast(1)|central_nervous_system(1)|large_intestine(7)|lung(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	17						AATCCATCTGTAATTATTATC	0.313																																						uc001qyy.1																			1	Substitution - Missense(1)		lung(1)		0						c.(187-189)ACA>GCA		taste receptor, type 2, member 10							41.0	44.0	43.0					12																	10978682		2203	4297	6500	SO:0001583	missense	50839				sensory perception of taste	integral to membrane	taste receptor activity	g.chr12:10978682T>C	AF227136	CCDS8634.1	12p13	2012-08-22			ENSG00000121318	ENSG00000121318		"""Taste receptors / Type 2"", ""GPCR / Unclassified : Taste receptors"""	14918	protein-coding gene	gene with protein product		604791				10761934, 10766242	Standard	NM_023921		Approved	T2R10, TRB2	uc001qyy.1	Q9NYW0	OTTHUMG00000168508	ENST00000240619.2:c.187A>G	12.37:g.10978682T>C	ENSP00000240619:p.Thr63Ala						p.T63A	NM_023921	NP_076410	Q9NYW0	T2R10_HUMAN			1	187	-			63			Helical; Name=2; (Potential).		Q3MIM9|Q6NTD9	Missense_Mutation	SNP	ENST00000240619.2	37	c.187A>G	CCDS8634.1	.	.	.	.	.	.	.	.	.	.	T	10.29	1.309427	0.23821	.	.	ENSG00000121318	ENST00000240619	T	0.37058	1.22	4.34	-3.28	0.05033	.	1.167220	0.06477	N	0.732180	T	0.31136	0.0787	M	0.69523	2.12	0.09310	N	1	B	0.09022	0.002	B	0.14023	0.01	T	0.46582	-0.9181	10	0.62326	D	0.03	.	0.5472	0.00656	0.2629:0.1718:0.1344:0.431	.	63	Q9NYW0	T2R10_HUMAN	A	63	ENSP00000240619:T63A	ENSP00000240619:T63A	T	-	1	0	TAS2R10	10869949	0.000000	0.05858	0.000000	0.03702	0.024000	0.10985	-0.810000	0.04505	-0.288000	0.09051	0.482000	0.46254	ACA		PASS	0.313	TAS2R10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399934.1			61	73	61	73	---	---	---	---
C12orf36	283422	broad.mit.edu	37	12	13526185	13526185	+	Nonsense_Mutation	SNP	C	C	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr12:13526185C>A	ENST00000318426.2	-	3	587	c.370G>T	c.(370-372)Gaa>Taa	p.E124*	C12orf36_ENST00000527705.2_Nonsense_Mutation_p.E124*|C12orf36_ENST00000531049.1_5'Flank					chromosome 12 open reading frame 36									p.E124*(1)		lung(3)|skin(3)	6				BRCA - Breast invasive adenocarcinoma(232;0.198)		CTCACATCTTCCTCAATTTTC	0.408																																						uc001rbs.1																			1	Substitution - Nonsense(1)		lung(1)		0						c.(370-372)GAA>TAA		hypothetical protein LOC283422							219.0	205.0	210.0					12																	13526185		2203	4300	6503	SO:0001587	stop_gained	283422							g.chr12:13526185C>A	AK091129		12p13.1	2012-08-14			ENSG00000180861	ENSG00000180861			26598	protein-coding gene	gene with protein product							Standard	NR_036555		Approved	FLJ33810	uc001rbs.2	Q495D7	OTTHUMG00000167562	ENST00000318426.2:c.370G>T	12.37:g.13526185C>A	ENSP00000443007:p.Glu124*						p.E124*	NM_182558	NP_872364				BRCA - Breast invasive adenocarcinoma(232;0.198)	3	588	-									Nonsense_Mutation	SNP	ENST00000318426.2	37	c.370G>T		.	.	.	.	.	.	.	.	.	.	C	15.82	2.945493	0.53079	.	.	ENSG00000180861	ENST00000318426;ENST00000527705	.	.	.	3.96	-2.76	0.05896	.	.	.	.	.	.	.	.	.	.	.	0.21675	N	0.999598	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	5.3302	0.15928	0.0:0.2353:0.4773:0.2874	.	.	.	.	X	124	.	ENSP00000443007:E124X	E	-	1	0	C12orf36	13417452	0.020000	0.18652	0.002000	0.10522	0.022000	0.10575	-0.052000	0.11865	-0.523000	0.06409	0.655000	0.94253	GAA		PASS	0.408	C12orf36-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000395025.2	NM_182558		81	232	81	232	---	---	---	---
GUCY2C	2984	broad.mit.edu	37	12	14840956	14840956	+	Missense_Mutation	SNP	C	C	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr12:14840956C>A	ENST00000261170.3	-	2	395	c.259G>T	c.(259-261)Ggt>Tgt	p.G87C	RP11-174G6.1_ENST00000501178.2_RNA	NM_004963.3	NP_004954.2	P25092	GUC2C_HUMAN	guanylate cyclase 2C (heat stable enterotoxin receptor)	87					intracellular signal transduction (GO:0035556)|receptor guanylyl cyclase signaling pathway (GO:0007168)|regulation of cell proliferation (GO:0042127)|response to toxic substance (GO:0009636)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|GTP binding (GO:0005525)|guanylate cyclase activity (GO:0004383)|protein kinase activity (GO:0004672)|toxic substance binding (GO:0015643)	p.G87C(1)		breast(3)|endometrium(7)|kidney(3)|large_intestine(9)|lung(17)|ovary(4)|skin(7)|urinary_tract(1)	51					Linaclotide(DB08890)	TGAATCAGACCATCCGAATAC	0.433																																						uc001rcd.2																			1	Substitution - Missense(1)		lung(1)	ovary(4)|skin(2)	6						c.(259-261)GGT>TGT		guanylate cyclase 2C precursor							101.0	98.0	99.0					12																	14840956		2203	4300	6503	SO:0001583	missense	2984				intracellular signal transduction|receptor guanylyl cyclase signaling pathway	integral to membrane	ATP binding|GTP binding|guanylate cyclase activity|protein binding|protein kinase activity|receptor activity	g.chr12:14840956C>A		CCDS8664.1	12p12	2008-08-18			ENSG00000070019	ENSG00000070019			4688	protein-coding gene	gene with protein product		601330		GUC2C		8661067	Standard	NM_004963		Approved	STAR	uc001rcd.3	P25092	OTTHUMG00000168732	ENST00000261170.3:c.259G>T	12.37:g.14840956C>A	ENSP00000261170:p.Gly87Cys					GUCY2C_uc009zhz.2_Missense_Mutation_p.G87C	p.G87C	NM_004963	NP_004954	P25092	GUC2C_HUMAN			2	396	-			87			Extracellular (Potential).		B2RMY6	Missense_Mutation	SNP	ENST00000261170.3	37	c.259G>T	CCDS8664.1	.	.	.	.	.	.	.	.	.	.	C	15.23	2.771436	0.49680	.	.	ENSG00000070019	ENST00000261170	D	0.81499	-1.5	5.48	0.951	0.19579	Extracellular ligand-binding receptor (1);	0.940200	0.08997	N	0.863607	T	0.79953	0.4535	L	0.44542	1.39	0.09310	N	1	D	0.59767	0.986	P	0.53450	0.726	T	0.66767	-0.5840	10	0.62326	D	0.03	.	7.3466	0.26666	0.0:0.3107:0.0:0.6893	.	87	P25092	GUC2C_HUMAN	C	87	ENSP00000261170:G87C	ENSP00000261170:G87C	G	-	1	0	GUCY2C	14732223	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	0.061000	0.14366	0.004000	0.14682	-0.218000	0.12543	GGT		PASS	0.433	GUCY2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400835.1			65	126	65	126	---	---	---	---
WBP11	51729	broad.mit.edu	37	12	14949838	14949838	+	Missense_Mutation	SNP	T	T	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr12:14949838T>A	ENST00000261167.2	-	5	523	c.290A>T	c.(289-291)gAa>gTa	p.E97V		NM_016312.2	NP_057396.1	Q9Y2W2	WBP11_HUMAN	WW domain binding protein 11	97					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)|rRNA processing (GO:0006364)	cytoplasm (GO:0005737)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|protein phosphatase type 1 regulator activity (GO:0008599)|single-stranded DNA binding (GO:0003697)|WW domain binding (GO:0050699)	p.E97V(1)		endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)	30						ATTCTCTTTTTCATAGAGTCG	0.368																																						uc001rci.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|lung(1)	2						c.(289-291)GAA>GTA		WW domain binding protein 11							128.0	120.0	123.0					12																	14949838		2202	4299	6501	SO:0001583	missense	51729				mRNA processing|RNA splicing|rRNA processing	cytoplasm	single-stranded DNA binding|WW domain binding	g.chr12:14949838T>A	AB029309	CCDS8666.1	12p12.3	2014-06-13			ENSG00000084463	ENSG00000084463			16461	protein-coding gene	gene with protein product	"""splicing factor, PQBP1 and PP1 interacting"", ""protein phosphatase 1, regulatory subunit 165"""					10593949	Standard	NM_016312		Approved	NPWBP, SIPP1, PPP1R165	uc001rci.3	Q9Y2W2	OTTHUMG00000168737	ENST00000261167.2:c.290A>T	12.37:g.14949838T>A	ENSP00000261167:p.Glu97Val						p.E97V	NM_016312	NP_057396	Q9Y2W2	WBP11_HUMAN			5	451	-			97			Potential.		Q96AY8	Missense_Mutation	SNP	ENST00000261167.2	37	c.290A>T	CCDS8666.1	.	.	.	.	.	.	.	.	.	.	T	17.39	3.378571	0.61735	.	.	ENSG00000084463	ENST00000261167;ENST00000537574	.	.	.	5.41	5.41	0.78517	.	0.000000	0.85682	D	0.000000	T	0.69735	0.3144	L	0.50333	1.59	0.58432	D	0.999999	D	0.71674	0.998	D	0.73708	0.981	T	0.72276	-0.4341	9	0.66056	D	0.02	-10.95	13.4114	0.60944	0.0:0.0:0.0:1.0	.	97	Q9Y2W2	WBP11_HUMAN	V	97	.	ENSP00000261167:E97V	E	-	2	0	WBP11	14841105	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.794000	0.85869	2.066000	0.61787	0.528000	0.53228	GAA		PASS	0.368	WBP11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400850.1	NM_016312		77	166	77	166	---	---	---	---
EPS8	2059	broad.mit.edu	37	12	15823797	15823797	+	Missense_Mutation	SNP	C	C	A	rs77383735		TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr12:15823797C>A	ENST00000281172.5	-	4	633	c.197G>T	c.(196-198)cGt>cTt	p.R66L	RNU6-251P_ENST00000363235.1_RNA|EPS8_ENST00000543523.1_Missense_Mutation_p.R66L|EPS8_ENST00000543612.1_Missense_Mutation_p.R66L	NM_004447.5	NP_004438.3	Q12929	EPS8_HUMAN	epidermal growth factor receptor pathway substrate 8	66					actin crosslink formation (GO:0051764)|actin cytoskeleton reorganization (GO:0031532)|actin filament bundle assembly (GO:0051017)|actin polymerization-dependent cell motility (GO:0070358)|adult locomotory behavior (GO:0008344)|barbed-end actin filament capping (GO:0051016)|behavioral response to ethanol (GO:0048149)|cell proliferation (GO:0008283)|dendritic cell migration (GO:0036336)|epidermal growth factor receptor signaling pathway (GO:0007173)|exit from mitosis (GO:0010458)|positive regulation of signal transduction (GO:0009967)|Rac protein signal transduction (GO:0016601)|regulation of actin filament length (GO:0030832)|regulation of cell shape (GO:0008360)|signal transduction (GO:0007165)	cell cortex (GO:0005938)|cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuron projection (GO:0043005)|postsynaptic density (GO:0014069)|ruffle membrane (GO:0032587)|stereocilium (GO:0032420)|vesicle (GO:0031982)	actin binding (GO:0003779)|Rac GTPase binding (GO:0048365)|SH3/SH2 adaptor activity (GO:0005070)	p.R66L(1)		NS(1)|breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(9)|ovary(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	33		all_epithelial(100;1.87e-05)|Breast(259;0.000286)|Hepatocellular(102;0.244)		BRCA - Breast invasive adenocarcinoma(232;4.29e-05)|GBM - Glioblastoma multiforme(207;0.0264)		TACTTCAACACGGTATTGAGA	0.353																																						uc009zif.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|upper_aerodigestive_tract(1)|skin(1)	4						c.(196-198)CGT>CTT		epidermal growth factor receptor pathway							169.0	152.0	158.0					12																	15823797		2203	4300	6503	SO:0001583	missense	2059				cell proliferation|epidermal growth factor receptor signaling pathway		SH3/SH2 adaptor activity	g.chr12:15823797C>A	U12535	CCDS31753.1	12p12.3	2008-05-02				ENSG00000151491			3420	protein-coding gene	gene with protein product		600206				8084614	Standard	NM_004447		Approved		uc001rdb.3	Q12929		ENST00000281172.5:c.197G>T	12.37:g.15823797C>A	ENSP00000281172:p.Arg66Leu					EPS8_uc001rdb.2_Missense_Mutation_p.R66L|EPS8_uc009zig.2_5'UTR	p.R66L	NM_004447	NP_004438	Q12929	EPS8_HUMAN		BRCA - Breast invasive adenocarcinoma(232;4.29e-05)|GBM - Glioblastoma multiforme(207;0.0264)	4	291	-		all_epithelial(100;1.87e-05)|Breast(259;0.000286)|Hepatocellular(102;0.244)	66					A6NMC3|A8K6W2|A8KA66|B4DX66|Q8N6J0	Missense_Mutation	SNP	ENST00000281172.5	37	c.197G>T	CCDS31753.1	.	.	.	.	.	.	.	.	.	.	C	15.93	2.978890	0.53827	.	.	ENSG00000151491	ENST00000543523;ENST00000281172;ENST00000543612;ENST00000543223;ENST00000546311;ENST00000535752;ENST00000543363;ENST00000536793;ENST00000544064	T;T;T;T;T	0.33438	1.41;1.41;1.41;1.41;1.41	5.04	3.22	0.36961	Phosphotyrosine interaction domain (1);Pleckstrin homology-type (1);Tensin phosphotyrosine-binding domain (1);	0.111076	0.64402	D	0.000010	T	0.15132	0.0365	N	0.11106	0.095	0.80722	D	1	B	0.18968	0.032	B	0.26416	0.069	T	0.07102	-1.0790	10	0.27082	T	0.32	-6.5908	6.3826	0.21544	0.0:0.6048:0.0:0.3952	.	66	Q12929	EPS8_HUMAN	L	66	ENSP00000441867:R66L;ENSP00000281172:R66L;ENSP00000442388:R66L;ENSP00000445235:R66L;ENSP00000440591:R66L	ENSP00000281172:R66L	R	-	2	0	EPS8	15715064	0.996000	0.38824	1.000000	0.80357	0.993000	0.82548	2.942000	0.49018	0.834000	0.34852	0.655000	0.94253	CGT		PASS	0.353	EPS8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401093.1			82	128	82	128	---	---	---	---
MGST1	4257	broad.mit.edu	37	12	16516939	16516939	+	Missense_Mutation	SNP	G	G	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr12:16516939G>T	ENST00000396209.1	+	4	575	c.432G>T	c.(430-432)atG>atT	p.M144I	MGST1_ENST00000540056.1_3'UTR|MGST1_ENST00000396210.3_Missense_Mutation_p.M144I|MGST1_ENST00000396207.1_Missense_Mutation_p.M144I|MGST1_ENST00000010404.2_Missense_Mutation_p.M144I|MGST1_ENST00000535309.1_Intron	NM_145791.2	NP_665734.1	P10620	MGST1_HUMAN	microsomal glutathione S-transferase 1	144					cellular response to lipid hydroperoxide (GO:0071449)|glutathione derivative biosynthetic process (GO:1901687)|glutathione metabolic process (GO:0006749)|Leydig cell differentiation (GO:0033327)|oxidation-reduction process (GO:0055114)|protein homotrimerization (GO:0070207)|response to drug (GO:0042493)|response to lipopolysaccharide (GO:0032496)|response to organonitrogen compound (GO:0010243)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	apical part of cell (GO:0045177)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|peroxisomal membrane (GO:0005778)	glutathione binding (GO:0043295)|glutathione peroxidase activity (GO:0004602)|glutathione transferase activity (GO:0004364)	p.M144I(1)		endometrium(2)|large_intestine(2)|lung(4)|ovary(1)	9		Hepatocellular(102;0.121)			Glutathione(DB00143)	CTCTTTCCATGGCTTACAGGT	0.388																																						uc001rdf.2																			1	Substitution - Missense(1)		lung(1)		0						c.(430-432)ATG>ATT		microsomal glutathione S-transferase 1	Glutathione(DB00143)						136.0	128.0	131.0					12																	16516939		2203	4300	6503	SO:0001583	missense	4257				protein homotrimerization|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome|mitochondrial outer membrane	glutathione transferase activity	g.chr12:16516939G>T	U46494	CCDS8677.1, CCDS58209.1	12p12.3-p12.1	2012-06-21			ENSG00000008394	ENSG00000008394	2.5.1.18	"""Glutathione S-transferases / Microsomal"""	7061	protein-coding gene	gene with protein product		138330		GST12			Standard	NM_145792		Approved	MGST-I	uc031qgl.1	P10620	OTTHUMG00000168816	ENST00000396209.1:c.432G>T	12.37:g.16516939G>T	ENSP00000379512:p.Met144Ile					MGST1_uc001rdg.2_Missense_Mutation_p.M144I|MGST1_uc009zih.1_Intron|MGST1_uc001rdh.2_Missense_Mutation_p.M144I|MGST1_uc001rdi.2_Missense_Mutation_p.M144I	p.M144I	NM_145792	NP_665735	P10620	MGST1_HUMAN			4	497	+		Hepatocellular(102;0.121)	144			Helical; (By similarity).		A8K533|G5EA53	Missense_Mutation	SNP	ENST00000396209.1	37	c.432G>T	CCDS8677.1	.	.	.	.	.	.	.	.	.	.	G	20.3	3.975164	0.74360	.	.	ENSG00000008394	ENST00000010404;ENST00000396210;ENST00000396209;ENST00000396207	T;T;T;T	0.57752	0.38;0.38;0.38;0.38	5.33	4.42	0.53409	Membrane associated eicosanoid/glutathione metabolism-like domain (1);	0.000000	0.85682	D	0.000000	T	0.73783	0.3631	M	0.84585	2.705	0.80722	D	1	D	0.76494	0.999	D	0.77557	0.99	T	0.76263	-0.3023	10	0.51188	T	0.08	-23.5794	14.5827	0.68302	0.0713:0.0:0.9287:0.0	.	144	P10620	MGST1_HUMAN	I	144	ENSP00000010404:M144I;ENSP00000379513:M144I;ENSP00000379512:M144I;ENSP00000379510:M144I	ENSP00000010404:M144I	M	+	3	0	MGST1	16408206	1.000000	0.71417	1.000000	0.80357	0.650000	0.38633	6.715000	0.74697	2.775000	0.95449	0.655000	0.94253	ATG		PASS	0.388	MGST1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401189.1	NM_145791		116	141	116	141	---	---	---	---
CAPZA3	93661	broad.mit.edu	37	12	18892099	18892099	+	Missense_Mutation	SNP	A	A	G			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr12:18892099A>G	ENST00000317658.3	+	1	1055	c.897A>G	c.(895-897)atA>atG	p.I299M	PLCZ1_ENST00000435379.1_5'Flank|PLCZ1_ENST00000539875.1_5'Flank|RP11-361I14.2_ENST00000536931.1_RNA|PLCZ1_ENST00000266505.7_5'Flank|PLCZ1_ENST00000447925.2_5'Flank	NM_033328.2	NP_201585.1	Q96KX2	CAZA3_HUMAN	capping protein (actin filament) muscle Z-line, alpha 3	299					actin cytoskeleton organization (GO:0030036)|actin filament capping (GO:0051693)|spermatid development (GO:0007286)	acrosomal vesicle (GO:0001669)|cortical cytoskeleton (GO:0030863)|F-actin capping protein complex (GO:0008290)|membrane (GO:0016020)|nucleus (GO:0005634)|WASH complex (GO:0071203)		p.I299M(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(6)|ovary(1)|prostate(1)	19	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.0241)	Hepatocellular(102;0.194)				ACTGGATAATATAAAGAATTG	0.353																																						uc001rdy.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.(895-897)ATA>ATG		capping protein alpha 3							50.0	53.0	52.0					12																	18892099		2100	4014	6114	SO:0001583	missense	93661				actin cytoskeleton organization|actin filament capping	F-actin capping protein complex	actin binding	g.chr12:18892099A>G	AB053259	CCDS8681.1	12p12.3	2008-02-05			ENSG00000177938	ENSG00000177938			24205	protein-coding gene	gene with protein product		608722				12029070	Standard	NM_033328		Approved	Gsg3, CAPPA3	uc001rdy.3	Q96KX2	OTTHUMG00000169001	ENST00000317658.3:c.897A>G	12.37:g.18892099A>G	ENSP00000326238:p.Ile299Met					PLCZ1_uc001rdv.3_5'Flank|PLCZ1_uc001rdw.3_5'Flank|PLCZ1_uc010sid.1_5'Flank	p.I299M	NM_033328	NP_201585	Q96KX2	CAZA3_HUMAN			1	1055	+	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.0241)	Hepatocellular(102;0.194)	299					Q969J0	Missense_Mutation	SNP	ENST00000317658.3	37	c.897A>G	CCDS8681.1	.	.	.	.	.	.	.	.	.	.	A	15.04	2.715790	0.48622	.	.	ENSG00000177938	ENST00000317658	.	.	.	4.53	4.53	0.55603	.	0.292710	0.23014	U	0.052927	T	0.20455	0.0492	N	0.08118	0	0.30139	N	0.804075	P	0.39576	0.679	B	0.38562	0.276	T	0.11966	-1.0566	9	0.87932	D	0	-7.6782	10.1634	0.42866	1.0:0.0:0.0:0.0	.	299	Q96KX2	CAZA3_HUMAN	M	299	.	ENSP00000326238:I299M	I	+	3	3	CAPZA3	18783366	1.000000	0.71417	1.000000	0.80357	0.938000	0.57974	2.924000	0.48876	1.906000	0.55180	0.374000	0.22700	ATA		PASS	0.353	CAPZA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401902.1	NM_033328		241	141	241	141	---	---	---	---
PDE3A	5139	broad.mit.edu	37	12	20522893	20522893	+	Silent	SNP	C	C	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr12:20522893C>A	ENST00000359062.3	+	1	715	c.675C>A	c.(673-675)tcC>tcA	p.S225S	RP11-284H19.1_ENST00000535755.1_RNA	NM_000921.4|NM_001244683.1	NP_000912.3|NP_001231612.1	Q14432	PDE3A_HUMAN	phosphodiesterase 3A, cGMP-inhibited	225					blood coagulation (GO:0007596)|cAMP catabolic process (GO:0006198)|cAMP-mediated signaling (GO:0019933)|cellular response to cGMP (GO:0071321)|cellular response to transforming growth factor beta stimulus (GO:0071560)|cGMP-mediated signaling (GO:0019934)|diterpenoid metabolic process (GO:0016101)|lipid metabolic process (GO:0006629)|negative regulation of apoptotic process (GO:0043066)|negative regulation of vascular permeability (GO:0043116)|oocyte maturation (GO:0001556)|positive regulation of oocyte development (GO:0060282)|positive regulation of vascular permeability (GO:0043117)|regulation of meiosis (GO:0040020)|response to cAMP (GO:0051591)|response to drug (GO:0042493)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)	3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|cAMP binding (GO:0030552)|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity (GO:0004119)|metal ion binding (GO:0046872)	p.S225S(1)		NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(7)|lung(29)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	58	Esophageal squamous(101;0.125)	Breast(259;0.134)			Aminophylline(DB01223)|Amrinone(DB01427)|Anagrelide(DB00261)|Caffeine(DB00201)|Cilostazol(DB01166)|Enoximone(DB04880)|Ibudilast(DB05266)|Levosimendan(DB00922)|Milrinone(DB00235)|Oxtriphylline(DB01303)|Theophylline(DB00277)|Tofisopam(DB08811)	GGACCGTGTCCCTCATTTCCT	0.622																																						uc001reh.1																			1	Substitution - coding silent(1)		lung(1)	ovary(3)|upper_aerodigestive_tract(1)	4						c.(673-675)TCC>TCA		phosphodiesterase 3A	Aminophylline(DB01223)|Amrinone(DB01427)|Anagrelide(DB00261)|Cilostazol(DB01166)|Enoximone(DB04880)|Milrinone(DB00235)|Theophylline(DB00277)						37.0	40.0	39.0					12																	20522893		2201	4300	6501	SO:0001819	synonymous_variant	5139				lipid metabolic process|platelet activation|signal transduction	cytosol|integral to membrane	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity|metal ion binding	g.chr12:20522893C>A		CCDS31754.1	12p12.2	2011-04-15			ENSG00000172572	ENSG00000172572	3.1.4.17	"""Phosphodiesterases"""	8778	protein-coding gene	gene with protein product		123805				1315035, 10679291	Standard	NM_000921		Approved	CGI-PDE	uc001reh.2	Q14432	OTTHUMG00000168962	ENST00000359062.3:c.675C>A	12.37:g.20522893C>A							p.S225S	NM_000921	NP_000912	Q14432	PDE3A_HUMAN			1	697	+	Esophageal squamous(101;0.125)	Breast(259;0.134)	225			Helical; (Potential).		O60865|Q13348|Q17RD1	Silent	SNP	ENST00000359062.3	37	c.675C>A	CCDS31754.1																																																																																				PASS	0.622	PDE3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401756.2			41	150	41	150	---	---	---	---
SLCO1B1	10599	broad.mit.edu	37	12	21331906	21331906	+	Nonsense_Mutation	SNP	G	G	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr12:21331906G>T	ENST00000256958.2	+	7	775	c.679G>T	c.(679-681)Gga>Tga	p.G227*		NM_006446.4	NP_006437.3	Q9Y6L6	SO1B1_HUMAN	solute carrier organic anion transporter family, member 1B1	227					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 plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	sodium-independent organic anion transmembrane transporter activity (GO:0015347)	p.G227*(1)		breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(33)|ovary(3)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)	70					Acetylcysteine(DB06151)|Aminohippurate(DB00345)|Atorvastatin(DB01076)|Axitinib(DB06626)|Benzylpenicillin(DB01053)|Bezafibrate(DB01393)|Cabazitaxel(DB06772)|Caspofungin(DB00520)|Conjugated Estrogens(DB00286)|Cyclosporine(DB00091)|Dabrafenib(DB08912)|Dextrothyroxine(DB00509)|Digoxin(DB00390)|Dinoprostone(DB00917)|Eltrombopag(DB06210)|Estradiol(DB00783)|Estrone(DB00655)|Ezetimibe(DB00973)|Fexofenadine(DB00950)|Fluvastatin(DB01095)|Gadoxetate(DB08884)|Gemfibrozil(DB01241)|Indinavir(DB00224)|Irinotecan(DB00762)|L-Carnitine(DB00583)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Liotrix(DB01583)|Lovastatin(DB00227)|Methotrexate(DB00563)|Mycophenolate mofetil(DB00688)|Nelfinavir(DB00220)|Olmesartan(DB00275)|Ouabain(DB01092)|Pantoprazole(DB00213)|Pazopanib(DB06589)|Penicillamine(DB00859)|Pioglitazone(DB01132)|Pitavastatin(DB08860)|Pravastatin(DB00175)|Quinidine(DB00908)|Repaglinide(DB00912)|Rifampicin(DB01045)|Rilpivirine(DB08864)|Ritonavir(DB00503)|Rosiglitazone(DB00412)|Rosuvastatin(DB01098)|Saquinavir(DB01232)|SIMEPREVIR(DB06290)|Simvastatin(DB00641)|Sirolimus(DB00877)|Sumatriptan(DB00669)|Valsartan(DB00177)|Verapamil(DB00661)	CTTTACCCTGGGATCTCTGTT	0.353																																						uc001req.3																			1	Substitution - Nonsense(1)		lung(1)	ovary(3)|skin(3)|pancreas(1)|central_nervous_system(1)	8						c.(679-681)GGA>TGA		solute carrier organic anion transporter family,	Digoxin(DB00390)|Gemfibrozil(DB01241)|Pravastatin(DB00175)						123.0	122.0	122.0					12																	21331906		2203	4298	6501	SO:0001587	stop_gained	10599				bile acid metabolic process|sodium-independent organic anion transport	basolateral plasma membrane|integral to plasma membrane|membrane fraction	bile acid transmembrane transporter activity|sodium-independent organic anion transmembrane transporter activity|thyroid hormone transmembrane transporter activity	g.chr12:21331906G>T		CCDS8685.1	12p12	2013-05-22	2003-11-25	2003-11-26	ENSG00000134538	ENSG00000134538		"""Solute carriers"""	10959	protein-coding gene	gene with protein product		604843	"""solute carrier family 21 (organic anion transporter), member 6"""	SLC21A6		10358072	Standard	NM_006446		Approved	OATP-C, LST-1, OATP1B1	uc001req.4	Q9Y6L6	OTTHUMG00000169047	ENST00000256958.2:c.679G>T	12.37:g.21331906G>T	ENSP00000256958:p.Gly227*						p.G227*	NM_006446	NP_006437	Q9Y6L6	SO1B1_HUMAN			7	783	+			227			Helical; Name=5; (Potential).		B2R7G2|Q29R64|Q9NQ37|Q9UBF3|Q9UH89	Nonsense_Mutation	SNP	ENST00000256958.2	37	c.679G>T	CCDS8685.1	.	.	.	.	.	.	.	.	.	.	G	35	5.569211	0.96540	.	.	ENSG00000134538	ENST00000256958	.	.	.	3.76	1.81	0.25067	.	0.295485	0.36854	N	0.002379	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	7.6695	0.28451	0.089:0.0:0.7431:0.1678	.	.	.	.	X	227	.	ENSP00000256958:G227X	G	+	1	0	SLCO1B1	21223173	1.000000	0.71417	0.034000	0.17996	0.458000	0.32498	4.975000	0.63777	0.326000	0.23384	0.305000	0.20034	GGA		PASS	0.353	SLCO1B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402070.1	NM_006446		257	187	257	187	---	---	---	---
RECQL	5965	broad.mit.edu	37	12	21643203	21643203	+	Missense_Mutation	SNP	C	C	G			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr12:21643203C>G	ENST00000444129.2	-	4	792	c.324G>C	c.(322-324)gaG>gaC	p.E108D	RECQL_ENST00000421138.2_Missense_Mutation_p.E108D	NM_002907.3|NM_032941.2	NP_002898.2|NP_116559.1	P46063	RECQ1_HUMAN	RecQ helicase-like	108	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				DNA duplex unwinding (GO:0032508)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA strand renaturation (GO:0000733)	membrane (GO:0016020)|nucleus (GO:0005634)	annealing helicase activity (GO:0036310)|ATP binding (GO:0005524)|ATP-dependent 3'-5' DNA helicase activity (GO:0043140)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)	p.E108D(1)		endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	17						CAAGAAATACCTCCTTTCCAG	0.353								Other identified genes with known or suspected DNA repair function																														uc001rex.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|lung(1)	2						c.(322-324)GAG>GAC	Direct_reversal_of_damage|Other_identified_genes_with_known_or_suspected_DNA_repair_function	RecQ protein-like							122.0	122.0	122.0					12																	21643203		2203	4300	6503	SO:0001583	missense	5965				DNA recombination|DNA repair|DNA replication	nucleus	ATP binding|ATP-dependent 3'-5' DNA helicase activity|DNA strand annealing activity|protein binding	g.chr12:21643203C>G	D37984	CCDS31756.1	12p12.1	2014-03-07	2014-03-07	2014-03-07	ENSG00000004700	ENSG00000004700			9948	protein-coding gene	gene with protein product	"""DNA helicase Q1-like"""	600537	"""RecQ protein-like (DNA helicase Q1-like)"""			7527136, 7961977	Standard	NM_002907		Approved	RecQ1, RecQL1	uc001rex.3	P46063	OTTHUMG00000169131	ENST00000444129.2:c.324G>C	12.37:g.21643203C>G	ENSP00000416739:p.Glu108Asp					RECQL_uc001rey.2_Missense_Mutation_p.E108D	p.E108D	NM_032941	NP_116559	P46063	RECQ1_HUMAN			5	672	-			108			Helicase ATP-binding.		A8K6G2	Missense_Mutation	SNP	ENST00000444129.2	37	c.324G>C	CCDS31756.1	.	.	.	.	.	.	.	.	.	.	C	2.743	-0.261816	0.05791	.	.	ENSG00000004700	ENST00000444129;ENST00000421138;ENST00000396093;ENST00000314748;ENST00000542432	T;T;T;T;T	0.08807	3.05;3.05;3.05;3.05;3.05	5.29	-2.95	0.05564	DEAD-like helicase (2);DNA/RNA helicase, DEAD/DEAH box type, N-terminal (1);	0.241000	0.41605	N	0.000852	T	0.00580	0.0019	N	0.00001	-3.815	0.21933	N	0.999463	B	0.02656	0.0	B	0.01281	0.0	T	0.45848	-0.9233	10	0.02654	T	1	-8.0804	5.3238	0.15895	0.6107:0.1747:0.0863:0.1284	.	108	P46063	RECQ1_HUMAN	D	108	ENSP00000416739:E108D;ENSP00000395449:E108D;ENSP00000379400:E108D;ENSP00000318727:E108D;ENSP00000445555:E108D	ENSP00000318727:E108D	E	-	3	2	RECQL	21534470	0.000000	0.05858	0.033000	0.17914	0.997000	0.91878	-0.805000	0.04530	-0.898000	0.03906	0.650000	0.86243	GAG		PASS	0.353	RECQL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402371.1	NM_002907		72	295	72	295	---	---	---	---
ST8SIA1	6489	broad.mit.edu	37	12	22487129	22487129	+	Missense_Mutation	SNP	C	C	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr12:22487129C>A	ENST00000396037.4	-	1	519	c.38G>T	c.(37-39)aGa>aTa	p.R13I	ST8SIA1_ENST00000404299.3_Missense_Mutation_p.R13I|ST8SIA1_ENST00000539510.1_5'UTR|ST8SIA1_ENST00000381424.3_Missense_Mutation_p.R13I|ST8SIA1_ENST00000536558.1_Intron	NM_003034.3	NP_003025.1	Q92185	SIA8A_HUMAN	ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 1	13					carbohydrate metabolic process (GO:0005975)|cellular response to heat (GO:0034605)|glycosphingolipid biosynthetic process (GO:0006688)|positive regulation of cell proliferation (GO:0008284)|protein glycosylation (GO:0006486)|sialylation (GO:0097503)	integral component of Golgi membrane (GO:0030173)|integral component of membrane (GO:0016021)	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity (GO:0003828)|sialyltransferase activity (GO:0008373)	p.R13I(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	25						CATGGCCCCTCTGGACGTTTG	0.697																																						uc001rfo.3																			1	Substitution - Missense(1)		lung(1)	ovary(3)	3						c.(37-39)AGA>ATA		alpha-2,8-sialyltransferase 1							45.0	46.0	46.0					12																	22487129		2203	4300	6503	SO:0001583	missense	6489				glycosphingolipid biosynthetic process|protein glycosylation	integral to Golgi membrane	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity	g.chr12:22487129C>A	L32867	CCDS8697.1	12p12.1-p11.2	2013-03-01	2003-01-14	2005-02-07	ENSG00000111728	ENSG00000111728	2.4.99.8	"""Sialyltransferases"""	10869	protein-coding gene	gene with protein product	"""ST8Sia I"""	601123	"""sialyltransferase 8 (alpha-N-acetylneuraminate: alpha-2,8-sialytransferase, GD3 synthase) A"""	SIAT8, SIAT8A		7901202	Standard	NM_003034		Approved		uc001rfo.4	Q92185	OTTHUMG00000169098	ENST00000396037.4:c.38G>T	12.37:g.22487129C>A	ENSP00000379353:p.Arg13Ile					ST8SIA1_uc009zix.2_5'UTR|uc001rfp.1_Intron	p.R13I	NM_003034	NP_003025	Q92185	SIA8A_HUMAN			1	520	-			13			Cytoplasmic (Potential).		A8K4H6|Q17RL0|Q6PZN5|Q93064	Missense_Mutation	SNP	ENST00000396037.4	37	c.38G>T	CCDS8697.1	.	.	.	.	.	.	.	.	.	.	C	14.73	2.621458	0.46736	.	.	ENSG00000111728	ENST00000396037;ENST00000404299;ENST00000381424	T	0.23950	1.88	4.39	4.39	0.52855	.	0.144833	0.44285	D	0.000465	T	0.20780	0.0500	L	0.29908	0.895	0.80722	D	1	B	0.18461	0.028	B	0.09377	0.004	T	0.05484	-1.0882	10	0.87932	D	0	-11.4289	14.6168	0.68556	0.0:1.0:0.0:0.0	.	13	Q92185	SIA8A_HUMAN	I	13	ENSP00000379353:R13I	ENSP00000261197:R13I	R	-	2	0	ST8SIA1	22378396	0.997000	0.39634	0.995000	0.50966	0.931000	0.56810	2.632000	0.46511	2.397000	0.81536	0.655000	0.94253	AGA		PASS	0.697	ST8SIA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402245.2	NM_003034		32	110	32	110	---	---	---	---
ITPR2	3709	broad.mit.edu	37	12	26750058	26750058	+	Missense_Mutation	SNP	C	C	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr12:26750058C>A	ENST00000381340.3	-	31	4428	c.4012G>T	c.(4012-4014)Ggg>Tgg	p.G1338W		NM_002223.2	NP_002214.2	Q14571	ITPR2_HUMAN	inositol 1,4,5-trisphosphate receptor, type 2	1338					activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|cellular response to cAMP (GO:0071320)|cellular response to ethanol (GO:0071361)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|inositol phosphate-mediated signaling (GO:0048016)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|regulation of insulin secretion (GO:0050796)|response to hypoxia (GO:0001666)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transport (GO:0006810)	cell cortex (GO:0005938)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|platelet dense tubular network membrane (GO:0031095)|receptor complex (GO:0043235)|sarcoplasmic reticulum membrane (GO:0033017)	calcium ion transmembrane transporter activity (GO:0015085)|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0005220)|phosphatidylinositol binding (GO:0035091)	p.G1338W(1)	ETV6/ITPR2(2)	biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(20)|liver(1)|lung(51)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	125	Colorectal(261;0.0847)				Caffeine(DB00201)	TCTTCACCCCCATTTATCAAC	0.408																																						uc001rhg.2																			1	Substitution - Missense(1)		lung(1)	kidney(6)|ovary(4)|skin(2)|upper_aerodigestive_tract(1)|lung(1)	14						c.(4012-4014)GGG>TGG		inositol 1,4,5-triphosphate receptor, type 2							150.0	140.0	143.0					12																	26750058		1917	4135	6052	SO:0001583	missense	3709				activation of phospholipase C activity|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	integral to membrane|plasma membrane enriched fraction|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity	g.chr12:26750058C>A	D26350	CCDS41764.1	12p11.23	2014-07-18	2011-04-28		ENSG00000123104	ENSG00000123104		"""Ion channels / Inositol triphosphate receptors"""	6181	protein-coding gene	gene with protein product	"""cilia and flagella associated protein 48"""	600144	"""inositol 1,4,5-triphosphate receptor, type 2"""			8081734	Standard	XM_006719064		Approved	IP3R2, CFAP48	uc001rhg.3	Q14571	OTTHUMG00000169181	ENST00000381340.3:c.4012G>T	12.37:g.26750058C>A	ENSP00000370744:p.Gly1338Trp						p.G1338W	NM_002223	NP_002214	Q14571	ITPR2_HUMAN			31	4429	-	Colorectal(261;0.0847)		1338			Cytoplasmic (Potential).		O94773	Missense_Mutation	SNP	ENST00000381340.3	37	c.4012G>T	CCDS41764.1	.	.	.	.	.	.	.	.	.	.	C	17.70	3.455483	0.63401	.	.	ENSG00000123104	ENST00000381340	D	0.95377	-3.69	4.3	3.33	0.38152	Intracellular calcium-release channel (1);	0.120408	0.56097	D	0.000027	D	0.96012	0.8701	L	0.47716	1.5	0.80722	D	1	D	0.71674	0.998	D	0.77004	0.989	D	0.95288	0.8392	10	0.54805	T	0.06	.	12.2914	0.54820	0.2744:0.7256:0.0:0.0	.	1338	Q14571	ITPR2_HUMAN	W	1338	ENSP00000370744:G1338W	ENSP00000370744:G1338W	G	-	1	0	ITPR2	26641325	0.996000	0.38824	0.999000	0.59377	0.997000	0.91878	3.718000	0.54919	2.371000	0.80710	0.555000	0.69702	GGG		PASS	0.408	ITPR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402732.1	NM_002223		266	214	266	214	---	---	---	---
ITPR2	3709	broad.mit.edu	37	12	26807026	26807026	+	Nonsense_Mutation	SNP	C	C	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr12:26807026C>A	ENST00000381340.3	-	21	3039	c.2623G>T	c.(2623-2625)Gga>Tga	p.G875*		NM_002223.2	NP_002214.2	Q14571	ITPR2_HUMAN	inositol 1,4,5-trisphosphate receptor, type 2	875					activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|cellular response to cAMP (GO:0071320)|cellular response to ethanol (GO:0071361)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|inositol phosphate-mediated signaling (GO:0048016)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|regulation of insulin secretion (GO:0050796)|response to hypoxia (GO:0001666)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transport (GO:0006810)	cell cortex (GO:0005938)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|platelet dense tubular network membrane (GO:0031095)|receptor complex (GO:0043235)|sarcoplasmic reticulum membrane (GO:0033017)	calcium ion transmembrane transporter activity (GO:0015085)|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0005220)|phosphatidylinositol binding (GO:0035091)	p.G875*(1)	ETV6/ITPR2(2)	biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(20)|liver(1)|lung(51)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	125	Colorectal(261;0.0847)				Caffeine(DB00201)	CTATAAAATCCAAAGTATATA	0.373																																						uc001rhg.2																			1	Substitution - Nonsense(1)		lung(1)	kidney(6)|ovary(4)|skin(2)|upper_aerodigestive_tract(1)|lung(1)	14						c.(2623-2625)GGA>TGA		inositol 1,4,5-triphosphate receptor, type 2							48.0	48.0	48.0					12																	26807026		1803	4066	5869	SO:0001587	stop_gained	3709				activation of phospholipase C activity|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	integral to membrane|plasma membrane enriched fraction|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity	g.chr12:26807026C>A	D26350	CCDS41764.1	12p11.23	2014-07-18	2011-04-28		ENSG00000123104	ENSG00000123104		"""Ion channels / Inositol triphosphate receptors"""	6181	protein-coding gene	gene with protein product	"""cilia and flagella associated protein 48"""	600144	"""inositol 1,4,5-triphosphate receptor, type 2"""			8081734	Standard	XM_006719064		Approved	IP3R2, CFAP48	uc001rhg.3	Q14571	OTTHUMG00000169181	ENST00000381340.3:c.2623G>T	12.37:g.26807026C>A	ENSP00000370744:p.Gly875*						p.G875*	NM_002223	NP_002214	Q14571	ITPR2_HUMAN			21	3040	-	Colorectal(261;0.0847)		875			Cytoplasmic (Potential).		O94773	Nonsense_Mutation	SNP	ENST00000381340.3	37	c.2623G>T	CCDS41764.1	.	.	.	.	.	.	.	.	.	.	C	46	12.336762	0.99658	.	.	ENSG00000123104	ENST00000381340	.	.	.	5.41	5.41	0.78517	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	19.2125	0.93763	0.0:1.0:0.0:0.0	.	.	.	.	X	875	.	ENSP00000370744:G875X	G	-	1	0	ITPR2	26698293	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.474000	0.81024	2.529000	0.85273	0.585000	0.79938	GGA		PASS	0.373	ITPR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402732.1	NM_002223		34	154	34	154	---	---	---	---
PPFIBP1	8496	broad.mit.edu	37	12	27829480	27829480	+	Silent	SNP	G	G	T	rs534286176		TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr12:27829480G>T	ENST00000318304.8	+	18	1864	c.1581G>T	c.(1579-1581)cgG>cgT	p.R527R	PPFIBP1_ENST00000228425.6_Silent_p.R510R|PPFIBP1_ENST00000537927.1_Silent_p.R374R|PPFIBP1_ENST00000542629.1_Silent_p.R496R	NM_001198916.1|NM_177444.2	NP_001185845.1|NP_803193	Q86W92	LIPB1_HUMAN	PTPRF interacting protein, binding protein 1 (liprin beta 1)	527					cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|signal transduction (GO:0007165)	focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)		p.R510R(1)|p.R527R(1)	PPFIBP1/ALK(3)	central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(13)|prostate(2)|skin(1)	32	Lung SC(9;0.0873)					CCTTTGGCCGGGGCTTTTTTA	0.502																																						uc001ric.1																		PPFIBP1/ALK(3)	2	Substitution - coding silent(2)		lung(2)	soft_tissue(3)|kidney(1)|skin(1)	5						c.(1579-1581)CGG>CGT		PTPRF interacting protein binding protein 1							71.0	73.0	72.0					12																	27829480		2203	4300	6503	SO:0001819	synonymous_variant	8496				cell adhesion	plasma membrane	protein binding	g.chr12:27829480G>T	AF034802	CCDS8713.1, CCDS55812.1, CCDS55813.1, CCDS55814.1	12p12.1	2013-01-10						"""Sterile alpha motif (SAM) domain containing"""	9249	protein-coding gene	gene with protein product		603141				9624153, 11836260	Standard	NM_003622		Approved	L2, hSGT2, hSgt2p, SGT2	uc001ric.2	Q86W92		ENST00000318304.8:c.1581G>T	12.37:g.27829480G>T						PPFIBP1_uc010sjr.1_Silent_p.R358R|PPFIBP1_uc001rib.1_Silent_p.R510R|PPFIBP1_uc001ria.2_Silent_p.R496R|PPFIBP1_uc001rid.1_Silent_p.R374R|PPFIBP1_uc001rif.1_5'Flank	p.R527R	NM_003622	NP_003613	Q86W92	LIPB1_HUMAN			18	1958	+	Lung SC(9;0.0873)		527					O75336|Q86X70|Q9NY03|Q9ULJ0	Silent	SNP	ENST00000318304.8	37	c.1581G>T	CCDS55812.1																																																																																				PASS	0.502	PPFIBP1-007	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000402877.1	NM_003622		196	123	196	123	---	---	---	---
FAR2	55711	broad.mit.edu	37	12	29423493	29423493	+	Silent	SNP	G	G	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr12:29423493G>A	ENST00000536681.3	+	2	357	c.111G>A	c.(109-111)ctG>ctA	p.L37L	FAR2_ENST00000182377.4_Silent_p.L37L|FAR2_ENST00000547116.1_Intron	NM_001271783.1|NM_001271784.1	NP_001258712.1|NP_001258713.1	Q96K12	FACR2_HUMAN	fatty acyl CoA reductase 2	37					cellular lipid metabolic process (GO:0044255)|ether lipid biosynthetic process (GO:0008611)|long-chain fatty-acyl-CoA metabolic process (GO:0035336)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	fatty-acyl-CoA reductase (alcohol-forming) activity (GO:0080019)|long-chain-fatty-acyl-CoA reductase activity (GO:0050062)	p.L37L(1)		central_nervous_system(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(15)|prostate(1)|stomach(1)	29						GCCCAGACCTGAAAGTCATTT	0.527																																						uc001ris.3																			1	Substitution - coding silent(1)		lung(1)		0						c.(109-111)CTG>CTA		fatty acyl CoA reductase 2							73.0	71.0	71.0					12																	29423493		2203	4300	6503	SO:0001819	synonymous_variant	55711				ether lipid biosynthetic process	endoplasmic reticulum membrane|integral to membrane|peroxisomal matrix|peroxisomal membrane	binding|oxidoreductase activity, acting on the aldehyde or oxo group of donors, NAD or NADP as acceptor	g.chr12:29423493G>A	AL136843	CCDS8717.1, CCDS61084.1	12p11.23	2013-07-30	2008-06-06	2008-06-06	ENSG00000064763	ENSG00000064763	1.2.1.-	"""Short chain dehydrogenase/reductase superfamily / Atypical members"""	25531	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 10E, member 2"""		"""male sterility domain containing 1"""	MLSTD1		15220348, 15220349, 19027726	Standard	NM_001271783		Approved	FLJ10462, SDR10E2	uc001ris.5	Q96K12	OTTHUMG00000169320	ENST00000536681.3:c.111G>A	12.37:g.29423493G>A						FAR2_uc001rit.2_Silent_p.L37L|FAR2_uc009zjm.2_Intron	p.L37L	NM_018099	NP_060569	Q96K12	FACR2_HUMAN			2	258	+			37					F8VV73|Q9H0D5|Q9NVW8	Silent	SNP	ENST00000536681.3	37	c.111G>A	CCDS8717.1																																																																																				PASS	0.527	FAR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403479.2	NM_018099		103	54	103	54	---	---	---	---
OVCH1	341350	broad.mit.edu	37	12	29628067	29628067	+	Silent	SNP	C	C	A	rs573263903		TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr12:29628067C>A	ENST00000318184.5	-	14	1526	c.1527G>T	c.(1525-1527)acG>acT	p.T509T	OVCH1-AS1_ENST00000551108.1_Intron|OVCH1-AS1_ENST00000549411.1_Intron	NM_183378.2	NP_899234.2	Q7RTY7	OVCH1_HUMAN	ovochymase 1	509	CUB 2. {ECO:0000255|PROSITE- ProRule:PRU00059}.					extracellular region (GO:0005576)	metal ion binding (GO:0046872)|serine-type endopeptidase activity (GO:0004252)	p.T509T(1)		NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(43)|ovary(5)|pancreas(3)|prostate(2)|skin(1)|soft_tissue(1)|stomach(3)	92	Lung NSC(12;1.84e-09)|Acute lymphoblastic leukemia(23;0.00885)|all_hematologic(23;0.0155)					AGTATATCACCGTCATGTTAC	0.308																																						uc001rix.1																			1	Substitution - coding silent(1)		lung(1)	ovary(3)|central_nervous_system(3)|pancreas(3)|large_intestine(1)	10						c.(1525-1527)ACG>ACT		ovochymase 1 precursor							48.0	43.0	45.0					12																	29628067		1821	4085	5906	SO:0001819	synonymous_variant	341350				proteolysis	extracellular region	metal ion binding|serine-type endopeptidase activity	g.chr12:29628067C>A	BN000128		12p11.23	2012-11-08			ENSG00000187950	ENSG00000187950			23080	protein-coding gene	gene with protein product						12838346	Standard	NM_183378		Approved	OVCH	uc001rix.1	Q7RTY7	OTTHUMG00000167741	ENST00000318184.5:c.1527G>T	12.37:g.29628067C>A							p.T509T	NM_183378	NP_899234	Q7RTY7	OVCH1_HUMAN			14	1527	-	Lung NSC(12;1.84e-09)|Acute lymphoblastic leukemia(23;0.00885)|all_hematologic(23;0.0155)		509			CUB 2.			Silent	SNP	ENST00000318184.5	37	c.1527G>T																																																																																					PASS	0.308	OVCH1-001	KNOWN	non_canonical_TEC|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000395997.2	NM_183378		11	29	11	29	---	---	---	---
OVCH1	341350	broad.mit.edu	37	12	29648348	29648348	+	Missense_Mutation	SNP	G	G	C			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr12:29648348G>C	ENST00000318184.5	-	4	323	c.324C>G	c.(322-324)agC>agG	p.S108R		NM_183378.2	NP_899234.2	Q7RTY7	OVCH1_HUMAN	ovochymase 1	108	Peptidase S1 1. {ECO:0000255|PROSITE- ProRule:PRU00274}.					extracellular region (GO:0005576)	metal ion binding (GO:0046872)|serine-type endopeptidase activity (GO:0004252)	p.S108R(1)		NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(43)|ovary(5)|pancreas(3)|prostate(2)|skin(1)|soft_tissue(1)|stomach(3)	92	Lung NSC(12;1.84e-09)|Acute lymphoblastic leukemia(23;0.00885)|all_hematologic(23;0.0155)					TCTGAAAGAGGCTGTACTCCC	0.388																																						uc001rix.1																			1	Substitution - Missense(1)		lung(1)	ovary(3)|central_nervous_system(3)|pancreas(3)|large_intestine(1)	10						c.(322-324)AGC>AGG		ovochymase 1 precursor							101.0	93.0	96.0					12																	29648348		1824	4088	5912	SO:0001583	missense	341350				proteolysis	extracellular region	metal ion binding|serine-type endopeptidase activity	g.chr12:29648348G>C	BN000128		12p11.23	2012-11-08			ENSG00000187950	ENSG00000187950			23080	protein-coding gene	gene with protein product						12838346	Standard	NM_183378		Approved	OVCH	uc001rix.1	Q7RTY7	OTTHUMG00000167741	ENST00000318184.5:c.324C>G	12.37:g.29648348G>C	ENSP00000326708:p.Ser108Arg						p.S108R	NM_183378	NP_899234	Q7RTY7	OVCH1_HUMAN			4	324	-	Lung NSC(12;1.84e-09)|Acute lymphoblastic leukemia(23;0.00885)|all_hematologic(23;0.0155)		108			Peptidase S1 1.			Missense_Mutation	SNP	ENST00000318184.5	37	c.324C>G		.	.	.	.	.	.	.	.	.	.	G	5.822	0.335956	0.11013	.	.	ENSG00000187950	ENST00000318184	D	0.92911	-3.13	2.89	1.04	0.20106	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	.	.	.	.	T	0.81442	0.4823	N	0.13272	0.32	0.09310	N	1	P	0.39282	0.666	B	0.33890	0.172	T	0.72846	-0.4169	9	0.72032	D	0.01	.	6.4048	0.21658	0.2504:0.0:0.7496:0.0	.	108	Q7RTY7	OVCH1_HUMAN	R	108	ENSP00000326708:S108R	ENSP00000326708:S108R	S	-	3	2	OVCH1	29539615	0.147000	0.22687	0.000000	0.03702	0.007000	0.05969	0.339000	0.19875	0.275000	0.22094	0.655000	0.94253	AGC		PASS	0.388	OVCH1-001	KNOWN	non_canonical_TEC|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000395997.2	NM_183378		49	195	49	195	---	---	---	---
DDX11	1663	broad.mit.edu	37	12	31236942	31236942	+	Missense_Mutation	SNP	G	G	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr12:31236942G>A	ENST00000407793.2	+	3	591	c.340G>A	c.(340-342)Gtt>Att	p.V114I	DDX11_ENST00000350437.4_Missense_Mutation_p.V114I|DDX11_ENST00000545668.1_Missense_Mutation_p.V114I|DDX11_ENST00000228264.6_Missense_Mutation_p.V88I|DDX11_ENST00000542838.1_Missense_Mutation_p.V114I|DDX11_ENST00000251758.5_Missense_Mutation_p.V114I	NM_030653.3|NM_152438.1	NP_085911.2|NP_689651.1	Q96FC9	DDX11_HUMAN	DEAD/H (Asp-Glu-Ala-Asp/His) box helicase 11	114	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				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.V114I(2)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(11)|large_intestine(5)|lung(23)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	57	all_cancers(9;1.77e-11)|all_lung(12;6.21e-11)|all_epithelial(9;6.49e-11)|Lung NSC(12;1.06e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Lung SC(12;0.0592)|Esophageal squamous(101;0.233)					ACCGGCCTGGGTTACTCAGTT	0.562										Multiple Myeloma(12;0.14)																												uc001rjt.1																			2	Substitution - Missense(2)		lung(2)	breast(3)	3						c.(340-342)GTT>ATT		DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 11							45.0	59.0	54.0					12																	31236942		2188	4290	6478	SO:0001583	missense	1663				G2/M transition of mitotic cell cycle|interspecies interaction between organisms|mitotic sister chromatid segregation|positive regulation of cell proliferation|S phase of mitotic cell cycle|sister chromatid cohesion	midbody|nuclear chromatin|nucleolus|spindle pole	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding|RNA binding	g.chr12:31236942G>A	U75969	CCDS8721.1, CCDS41767.1, CCDS44856.1, CCDS58224.1	12p11.21	2012-02-23	2012-02-23		ENSG00000013573	ENSG00000013573		"""DEAD-boxes"""	2736	protein-coding gene	gene with protein product	"""CHL1-like helicase homolog (S. cerevisiae)"""	601150	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 11 (S.cerevisiae CHL1-like helicase)"", ""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 11"""				Standard	NM_030653		Approved	CHLR1, KRG2, CHL1, ChlR1, WABS	uc001rjv.2	Q96FC9	OTTHUMG00000168435	ENST00000407793.2:c.340G>A	12.37:g.31236942G>A	ENSP00000384703:p.Val114Ile	Multiple Myeloma(12;0.14)				DDX11_uc010sjw.1_Missense_Mutation_p.V114I|DDX11_uc010sjx.1_RNA|DDX11_uc001rjr.1_Missense_Mutation_p.V114I|DDX11_uc001rjs.1_Missense_Mutation_p.V114I|DDX11_uc001rju.1_5'UTR|DDX11_uc001rjv.1_Missense_Mutation_p.V114I|DDX11_uc001rjw.1_Missense_Mutation_p.V88I	p.V114I	NM_152438	NP_689651	Q96FC9	DDX11_HUMAN			3	591	+	all_cancers(9;1.77e-11)|all_lung(12;6.21e-11)|all_epithelial(9;6.49e-11)|Lung NSC(12;1.06e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Lung SC(12;0.0592)|Esophageal squamous(101;0.233)		114			Helicase ATP-binding.		Q13333|Q86VQ4|Q86W62|Q92498|Q92770|Q92998|Q92999	Missense_Mutation	SNP	ENST00000407793.2	37	c.340G>A	CCDS44856.1	.	.	.	.	.	.	.	.	.	.	G	0.111	-1.137801	0.01742	.	.	ENSG00000013573	ENST00000542838;ENST00000407793;ENST00000251758;ENST00000228264;ENST00000438391;ENST00000415475;ENST00000545668;ENST00000350437;ENST00000535317	T;T;T;T;T;T;T;T;T	0.57907	4.1;4.1;4.1;4.1;0.37;4.1;4.1;4.1;4.1	4.57	1.49	0.22878	Helicase-like, DEXD box c2 type (1);Helicase, superfamily 1/2, ATP-binding domain, DinG/Rad3-type (1);	0.419087	0.26255	N	0.025430	T	0.27524	0.0676	N	0.16743	0.435	0.43729	D	0.996215	B;B;B;B	0.21452	0.048;0.056;0.004;0.008	B;B;B;B	0.15052	0.012;0.009;0.009;0.012	T	0.04103	-1.0977	10	0.12766	T	0.61	.	5.6953	0.17853	0.4409:0.0:0.5591:0.0	.	114;114;114;114	B4DZY1;Q96FC9;Q96FC9-4;Q96FC9-2	.;DDX11_HUMAN;.;.	I	114;114;114;88;114;88;114;114;150	ENSP00000443426:V114I;ENSP00000384703:V114I;ENSP00000251758:V114I;ENSP00000228264:V88I;ENSP00000407646:V114I;ENSP00000406457:V88I;ENSP00000440402:V114I;ENSP00000309965:V114I;ENSP00000440171:V150I	ENSP00000228264:V88I	V	+	1	0	DDX11	31128209	1.000000	0.71417	0.975000	0.42487	0.111000	0.19643	1.240000	0.32731	0.558000	0.29135	-0.362000	0.07510	GTT		PASS	0.562	DDX11-202	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000399728.1	NM_030653		89	284	89	284	---	---	---	---
OVOS2	144203	broad.mit.edu	37	12	31354068	31354068	+	IGR	SNP	G	G	C			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr12:31354068G>C								RP11-551L14.1 (83663 upstream) : FAM60A (79449 downstream)														p.S45C(1)									ATAGTTGAGGGAGACCGTCAA	0.388																																						uc010sjy.1																			1	Substitution - Missense(1)		lung(1)								c.(133-135)TCC>TGC		RecName: Full=Ovostatin homolog 1; Flags: Precursor;							25.0	25.0	25.0					12																	31354068		1818	4064	5882	SO:0001628	intergenic_variant	0							g.chr12:31354068G>C																													12.37:g.31354068G>C							p.S45C							2	134	-									Missense_Mutation	SNP		37	c.134C>G																																																																																				0	PASS	0.388									8	7	8	7	---	---	---	---
LRRK2	120892	broad.mit.edu	37	12	40740726	40740726	+	Splice_Site	SNP	G	G	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr12:40740726G>T	ENST00000298910.7	+	42	6338		c.e42+1			NM_198578.3	NP_940980	Q5S007	LRRK2_HUMAN	leucine-rich repeat kinase 2						activation of MAPK activity (GO:0000187)|activation of MAPKK activity (GO:0000186)|autophagy (GO:0006914)|cellular protein localization (GO:0034613)|cellular response to dopamine (GO:1903351)|cellular response to manganese ion (GO:0071287)|cellular response to oxidative stress (GO:0034599)|determination of adult lifespan (GO:0008340)|endocytosis (GO:0006897)|exploration behavior (GO:0035640)|GTP catabolic process (GO:0006184)|intracellular distribution of mitochondria (GO:0048312)|intracellular signal transduction (GO:0035556)|locomotory exploration behavior (GO:0035641)|MAPK cascade (GO:0000165)|negative regulation of GTPase activity (GO:0034260)|negative regulation of hydrogen peroxide-induced cell death (GO:1903206)|negative regulation of late endosome to lysosome transport (GO:1902823)|negative regulation of peroxidase activity (GO:2000469)|negative regulation of protein binding (GO:0032091)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of protein processing (GO:0010955)|negative regulation of protein processing involved in protein targeting to mitochondrion (GO:1903217)|negative regulation of protein targeting to mitochondrion (GO:1903215)|negative regulation of thioredoxin peroxidase activity by peptidyl-threonine phosphorylation (GO:1903125)|neuromuscular junction development (GO:0007528)|neuron death (GO:0070997)|neuron projection morphogenesis (GO:0048812)|olfactory bulb development (GO:0021772)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of autophagy (GO:0010508)|positive regulation of dopamine receptor signaling pathway (GO:0060161)|positive regulation of GTPase activity (GO:0043547)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of programmed cell death (GO:0043068)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein autoubiquitination (GO:1902499)|positive regulation of protein binding (GO:0032092)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein ubiquitination (GO:0031398)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|reactive oxygen species metabolic process (GO:0072593)|regulation of branching morphogenesis of a nerve (GO:2000172)|regulation of dendritic spine morphogenesis (GO:0061001)|regulation of dopamine receptor signaling pathway (GO:0060159)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of kidney size (GO:0035564)|regulation of locomotion (GO:0040012)|regulation of membrane potential (GO:0042391)|regulation of mitochondrial depolarization (GO:0051900)|regulation of neuroblast proliferation (GO:1902692)|regulation of neuron death (GO:1901214)|regulation of neuron maturation (GO:0014041)|regulation of protein kinase A signaling (GO:0010738)|regulation of synaptic transmission, glutamatergic (GO:0051966)|regulation of synaptic vesicle exocytosis (GO:2000300)|regulation of synaptic vesicle transport (GO:1902803)|response to oxidative stress (GO:0006979)|small GTPase mediated signal transduction (GO:0007264)|tangential migration from the subventricular zone to the olfactory bulb (GO:0022028)	axon (GO:0030424)|cytoplasm (GO:0005737)|cytoplasmic side of mitochondrial outer membrane (GO:0032473)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|dendrite (GO:0030425)|dendrite cytoplasm (GO:0032839)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|inclusion body (GO:0016234)|lysosome (GO:0005764)|membrane raft (GO:0045121)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrial membrane (GO:0031966)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)|terminal bouton (GO:0043195)|trans-Golgi network (GO:0005802)	actin binding (GO:0003779)|ATP binding (GO:0005524)|clathrin binding (GO:0030276)|glycoprotein binding (GO:0001948)|GTP binding (GO:0005525)|GTP-dependent protein kinase activity (GO:0034211)|GTPase activator activity (GO:0005096)|GTPase activity (GO:0003924)|identical protein binding (GO:0042802)|ion channel binding (GO:0044325)|kinase activity (GO:0016301)|MAP kinase kinase activity (GO:0004708)|peroxidase inhibitor activity (GO:0036479)|protein homodimerization activity (GO:0042803)|protein kinase A binding (GO:0051018)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|Rho GTPase binding (GO:0017048)|SNARE binding (GO:0000149)|syntaxin-1 binding (GO:0017075)|tubulin binding (GO:0015631)	p.?(2)		NS(3)|biliary_tract(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(23)|large_intestine(31)|lung(55)|ovary(15)|pancreas(2)|prostate(4)|skin(4)|stomach(9)|upper_aerodigestive_tract(7)|urinary_tract(2)	181	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)				AAATTACCTGGTAAGTTCTGT	0.294																																						uc001rmg.3																			2	Unknown(2)		lung(2)	ovary(12)|stomach(5)|upper_aerodigestive_tract(2)|lung(2)|large_intestine(1)|urinary_tract(1)|pancreas(1)	24						c.e42+1		leucine-rich repeat kinase 2							45.0	47.0	46.0					12																	40740726		2203	4298	6501	SO:0001630	splice_region_variant	120892				activation of MAPKK activity|determination of adult lifespan|exploration behavior|intracellular distribution of mitochondria|negative regulation of branching morphogenesis of a nerve|negative regulation of dendritic spine morphogenesis|negative regulation of neuroblast proliferation|negative regulation of neuron maturation|neuromuscular junction development|neuron death|peptidyl-serine phosphorylation|positive regulation of autophagy|positive regulation of dopamine receptor signaling pathway|positive regulation of programmed cell death|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of protein ubiquitination|protein autophosphorylation|regulation of kidney size|regulation of locomotion|regulation of membrane potential|response to oxidative stress|small GTPase mediated signal transduction|tangential migration from the subventricular zone to the olfactory bulb	external side of mitochondrial outer membrane	ATP binding|GTP binding|GTP-dependent protein kinase activity|GTPase activator activity|MAP kinase kinase activity|protein homodimerization activity|tubulin binding	g.chr12:40740726G>T	AK026776	CCDS31774.1	12q12	2011-07-21			ENSG00000188906	ENSG00000188906		"""Parkinson disease"""	18618	protein-coding gene	gene with protein product		609007	"""Parkinson disease (autosomal dominant) 8"""	PARK8		15541308	Standard	NM_198578		Approved	ROCO2, DKFZp434H2111, FLJ45829, RIPK7	uc001rmg.4	Q5S007	OTTHUMG00000059742	ENST00000298910.7:c.6280+1G>T	12.37:g.40740726G>T						LRRK2_uc009zjw.2_Splice_Site_p.D932_splice|LRRK2_uc001rmi.2_Splice_Site_p.D927_splice	p.D2094_splice	NM_198578	NP_940980	Q5S007	LRRK2_HUMAN			42	6401	+	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)						A6NJU2|Q6ZS50|Q8NCX9	Splice_Site	SNP	ENST00000298910.7	37	c.6280_splice	CCDS31774.1	.	.	.	.	.	.	.	.	.	.	G	25.5	4.646792	0.87958	.	.	ENSG00000188906	ENST00000298910	.	.	.	5.6	5.6	0.85130	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.6929	0.96009	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	LRRK2	39026993	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	9.745000	0.98856	2.659000	0.90383	0.644000	0.83932	.		PASS	0.294	LRRK2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000277179.1	XM_058513	Intron	27	39	27	39	---	---	---	---
CNTN1	1272	broad.mit.edu	37	12	41327336	41327336	+	Silent	SNP	G	G	C			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr12:41327336G>C	ENST00000551295.2	+	8	894	c.777G>C	c.(775-777)gtG>gtC	p.V259V	CNTN1_ENST00000547849.1_Silent_p.V259V|CNTN1_ENST00000360099.3_Silent_p.V259V|CNTN1_ENST00000347616.1_Silent_p.V259V|CNTN1_ENST00000547702.1_Silent_p.V259V|CNTN1_ENST00000348761.2_Silent_p.V248V	NM_001843.3	NP_001834.2	Q12860	CNTN1_HUMAN	contactin 1	259	Ig-like C2-type 3.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cerebellum development (GO:0021549)|Notch signaling pathway (GO:0007219)|positive regulation of gene expression (GO:0010628)|positive regulation of neuron projection development (GO:0010976)|positive regulation of sodium ion transport (GO:0010765)	anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)	p.V259V(1)		central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(21)|lung(49)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	90	all_cancers(12;2.07e-06)|all_epithelial(1;4.26e-06)|Breast(8;0.0716)	Lung NSC(34;0.0211)|all_lung(34;0.0294)				GCCAAAATGTGACCTTAGAAT	0.294																																						uc001rmm.1																			1	Substitution - coding silent(1)		lung(1)	lung(4)|ovary(3)|large_intestine(1)|skin(1)	9						c.(775-777)GTG>GTC		contactin 1 isoform 1 precursor							156.0	153.0	154.0					12																	41327336		2203	4300	6503	SO:0001819	synonymous_variant	1272				axon guidance|cell adhesion|Notch signaling pathway	anchored to membrane|membrane fraction|plasma membrane		g.chr12:41327336G>C	Z21488	CCDS8737.1, CCDS8738.1, CCDS58225.1	12q11-q12	2014-01-30				ENSG00000018236		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"", ""Endogenous ligands"""	2171	protein-coding gene	gene with protein product	"""glycoprotein gP135"""	600016				7959734, 8586965	Standard	NM_001843		Approved	F3, GP135	uc031qgz.1	Q12860		ENST00000551295.2:c.777G>C	12.37:g.41327336G>C						CNTN1_uc009zjy.1_Silent_p.V259V|CNTN1_uc001rmn.1_Silent_p.V248V|CNTN1_uc001rmo.2_Silent_p.V259V	p.V259V	NM_001843	NP_001834	Q12860	CNTN1_HUMAN			8	890	+	all_cancers(12;2.07e-06)|all_epithelial(1;4.26e-06)|Breast(8;0.0716)	Lung NSC(34;0.0211)|all_lung(34;0.0294)	259			Ig-like C2-type 3.		A8K0H9|A8K0Y3|Q12861|Q14030|Q7M4P0|Q8N466	Silent	SNP	ENST00000551295.2	37	c.777G>C	CCDS8737.1																																																																																				PASS	0.294	CNTN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403692.2	NM_001843		81	94	81	94	---	---	---	---
SLC38A4	55089	broad.mit.edu	37	12	47178371	47178371	+	Silent	SNP	C	C	A	rs181258900	byFrequency	TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr12:47178371C>A	ENST00000447411.1	-	6	653	c.447G>T	c.(445-447)ccG>ccT	p.P149P	SLC38A4_ENST00000266579.4_Silent_p.P149P	NM_001143824.1	NP_001137296.1	Q969I6	S38A4_HUMAN	solute carrier family 38, member 4	149					amino acid transport (GO:0006865)|ion transport (GO:0006811)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	amino acid transmembrane transporter activity (GO:0015171)|symporter activity (GO:0015293)	p.P149P(1)		NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|ovary(3)|skin(1)	21	Lung SC(27;0.192)|Renal(347;0.236)					CAATTTTTCCCGGCCATCCAA	0.333																																						uc001rpi.2																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|central_nervous_system(1)|skin(1)	4						c.(445-447)CCG>CCT		solute carrier family 38, member 4							107.0	105.0	105.0					12																	47178371		2203	4299	6502	SO:0001819	synonymous_variant	55089				cellular nitrogen compound metabolic process|sodium ion transport	integral to membrane|plasma membrane	amino acid transmembrane transporter activity|symporter activity	g.chr12:47178371C>A	AF193836	CCDS8750.1	12q13	2013-05-22				ENSG00000139209		"""Solute carriers"""	14679	protein-coding gene	gene with protein product		608065				11414754	Standard	NM_018018		Approved	PAAT, NAT3, ATA3	uc001rpj.2	Q969I6		ENST00000447411.1:c.447G>T	12.37:g.47178371C>A						SLC38A4_uc001rpj.2_Silent_p.P149P|SLC38A4_uc009zkl.2_Silent_p.P149P	p.P149P	NM_018018	NP_060488	Q969I6	S38A4_HUMAN			7	846	-	Lung SC(27;0.192)|Renal(347;0.236)		149			Cytoplasmic (Potential).		A8K553	Silent	SNP	ENST00000447411.1	37	c.447G>T	CCDS8750.1																																																																																				PASS	0.333	SLC38A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404574.1			48	52	48	52	---	---	---	---
KMT2D	8085	broad.mit.edu	37	12	49431527	49431527	+	Silent	SNP	T	T	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr12:49431527T>A	ENST00000301067.7	-	34	9611	c.9612A>T	c.(9610-9612)ccA>ccT	p.P3204P	KMT2D_ENST00000549743.1_5'Flank	NM_003482.3	NP_003473.3	O14686	KMT2D_HUMAN	lysine (K)-specific methyltransferase 2D	3204					chromatin silencing (GO:0006342)|histone H3-K4 methylation (GO:0051568)|oocyte growth (GO:0001555)|oogenesis (GO:0048477)|positive regulation of cell proliferation (GO:0008284)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to estrogen (GO:0043627)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)	p.P2934P(1)|p.P3204P(1)									AGGATCCTCCTGGGCCACTCA	0.602																																						uc001rta.3										N|F|Mis							medulloblastoma|renal		2	Substitution - coding silent(2)		lung(2)	kidney(16)|central_nervous_system(12)|lung(4)|skin(4)|ovary(3)|pancreas(2)	41						c.(9610-9612)CCA>CCT		myeloid/lymphoid or mixed-lineage leukemia 2							24.0	26.0	25.0					12																	49431527		1981	4147	6128	SO:0001819	synonymous_variant	8085				chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent	histone methyltransferase complex	histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding	g.chr12:49431527T>A	AF010403	CCDS44873.1	12q13.12	2013-05-09	2013-05-09	2013-05-09	ENSG00000167548	ENSG00000167548		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	7133	protein-coding gene	gene with protein product		602113	"""trinucleotide repeat containing 21"", ""myeloid/lymphoid or mixed-lineage leukemia 2"""	TNRC21, MLL2		9247308	Standard	NM_003482		Approved	ALR, MLL4, CAGL114		O14686	OTTHUMG00000166524	ENST00000301067.7:c.9612A>T	12.37:g.49431527T>A		HNSCC(34;0.089)					p.P3204P	NM_003482	NP_003473	O14686	MLL2_HUMAN			34	9612	-			3204					O14687	Silent	SNP	ENST00000301067.7	37	c.9612A>T	CCDS44873.1																																																																																				PASS	0.602	KMT2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390183.2			6	10	6	10	---	---	---	---
PRPF40B	25766	broad.mit.edu	37	12	50026907	50026907	+	Splice_Site	SNP	G	G	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr12:50026907G>T	ENST00000380281.1	+	6	457	c.393G>T	c.(391-393)gaG>gaT	p.E131D	PRPF40B_ENST00000261897.1_Splice_Site_p.E125D|PRPF40B_ENST00000548825.2_Splice_Site_p.E153D			Q6NWY9	PR40B_HUMAN	PRP40 pre-mRNA processing factor 40 homolog B (S. cerevisiae)	131					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleus (GO:0005634)		p.E131D(1)		breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	34						CCAAGGCAGAGGTCCTGAGCT	0.557																																						uc001rur.1																			1	Substitution - Missense(1)		lung(1)	skin(2)|ovary(1)|pancreas(1)|kidney(1)	5						c.(391-393)GAG>GAT		Huntingtin interacting protein C isoform 1							38.0	36.0	36.0					12																	50026907		2203	4299	6502	SO:0001630	splice_region_variant	25766				mRNA processing|RNA splicing	nuclear speck		g.chr12:50026907G>T	AF049525	CCDS31796.1, CCDS31796.2	12q13.12	2014-09-17	2006-04-04			ENSG00000110844			25031	protein-coding gene	gene with protein product	"""Huntingtin interacting protein C"""		"""PRP40 pre-mRNA processing factor 40 homolog B (yeast)"""			9700202	Standard	NM_001031698		Approved	HYPC	uc001rus.2	Q6NWY9		ENST00000380281.1:c.393+1G>T	12.37:g.50026907G>T						PRPF40B_uc001rup.1_Missense_Mutation_p.E153D|PRPF40B_uc001ruq.1_Missense_Mutation_p.E125D|PRPF40B_uc001rus.1_Missense_Mutation_p.E74D	p.E131D	NM_001031698	NP_001026868	Q6NWY9	PR40B_HUMAN			6	457	+			131					O75401|Q6PI09|Q6ZWB3|Q8NCZ1|Q9H5G4|Q9NT95	Missense_Mutation	SNP	ENST00000380281.1	37	c.393G>T		.	.	.	.	.	.	.	.	.	.	G	25.3	4.619131	0.87460	.	.	ENSG00000110844	ENST00000548825;ENST00000261897;ENST00000380281	T;T;T	0.35973	1.28;1.3;1.3	5.02	5.02	0.67125	WW/Rsp5/WWP (1);	0.000000	0.64402	D	0.000006	T	0.65407	0.2688	M	0.87617	2.895	0.80722	D	1	D;D;D	0.61697	0.984;0.99;0.99	D;D;D	0.70935	0.935;0.971;0.971	T	0.69624	-0.5095	9	.	.	.	-17.1272	17.6171	0.88070	0.0:0.0:1.0:0.0	.	131;125;131	Q6NWY9;Q6NWY9-2;Q6NWY9-3	PR40B_HUMAN;.;.	D	153;125;131	ENSP00000448073:E153D;ENSP00000261897:E125D;ENSP00000369634:E131D	.	E	+	3	2	PRPF40B	48313174	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.553000	0.90686	2.778000	0.95560	0.655000	0.94253	GAG		PASS	0.557	PRPF40B-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000404838.1	NM_012272	Missense_Mutation	8	5	8	5	---	---	---	---
KRT75	9119	broad.mit.edu	37	12	52828050	52828050	+	Missense_Mutation	SNP	G	G	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr12:52828050G>T	ENST00000252245.5	-	1	259	c.39C>A	c.(37-39)agC>agA	p.S13R		NM_004693.2	NP_004684.2	O95678	K2C75_HUMAN	keratin 75	13	Head.				hematopoietic progenitor cell differentiation (GO:0002244)	extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)	structural molecule activity (GO:0005198)	p.S13R(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(13)|lung(10)|prostate(1)|skin(1)	28				BRCA - Breast invasive adenocarcinoma(357;0.192)		AGCCCCTGCGGCTGCCAGACT	0.672																																						uc001saj.2																			1	Substitution - Missense(1)		lung(1)		0						c.(37-39)AGC>AGA		keratin 75							17.0	22.0	20.0					12																	52828050		2076	4121	6197	SO:0001583	missense	9119					keratin filament	structural molecule activity	g.chr12:52828050G>T	Y19212	CCDS8827.1	12q13.13	2013-06-25			ENSG00000170454	ENSG00000170454		"""-"", ""Intermediate filaments type II, keratins (basic)"""	24431	protein-coding gene	gene with protein product		609025				9856802, 10692104, 16831889	Standard	NM_004693		Approved	K6HF	uc001saj.2	O95678	OTTHUMG00000169592	ENST00000252245.5:c.39C>A	12.37:g.52828050G>T	ENSP00000252245:p.Ser13Arg						p.S13R	NM_004693	NP_004684	O95678	K2C75_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.192)	1	61	-			13			Head.		B4DQU4|Q9NSA9	Missense_Mutation	SNP	ENST00000252245.5	37	c.39C>A	CCDS8827.1	.	.	.	.	.	.	.	.	.	.	G	8.015	0.758281	0.15846	.	.	ENSG00000170454	ENST00000252245	T	0.75367	-0.93	5.74	1.84	0.25277	.	0.537071	0.18433	N	0.141383	T	0.61451	0.2348	L	0.45581	1.43	0.09310	N	1	P	0.45283	0.855	B	0.41571	0.36	T	0.50466	-0.8825	10	0.15952	T	0.53	.	6.0342	0.19697	0.274:0.1241:0.602:0.0	.	13	O95678	K2C75_HUMAN	R	13	ENSP00000252245:S13R	ENSP00000252245:S13R	S	-	3	2	KRT75	51114317	0.002000	0.14202	0.984000	0.44739	0.576000	0.36127	0.329000	0.19698	0.354000	0.24105	0.655000	0.94253	AGC		PASS	0.672	KRT75-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404968.1	NM_004693		12	4	12	4	---	---	---	---
OR6C65	403282	broad.mit.edu	37	12	55795096	55795096	+	Missense_Mutation	SNP	G	G	C			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr12:55795096G>C	ENST00000379665.2	+	1	883	c.784G>C	c.(784-786)Gca>Cca	p.A262P		NM_001005518.1	NP_001005518.1	A6NJZ3	O6C65_HUMAN	olfactory receptor, family 6, subfamily C, member 65	262						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.A262P(1)		cervix(1)|endometrium(2)|large_intestine(3)|lung(9)	15						AAAAACATCTGCAAAAGAAGG	0.388																																						uc010spl.1																			1	Substitution - Missense(1)		lung(1)		0						c.(784-786)GCA>CCA		olfactory receptor, family 6, subfamily C,							97.0	92.0	94.0					12																	55795096		2203	4300	6503	SO:0001583	missense	403282				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr12:55795096G>C		CCDS31821.1	12q13.2	2013-09-23			ENSG00000205328	ENSG00000205328		"""GPCR / Class A : Olfactory receptors"""	31295	protein-coding gene	gene with protein product							Standard	NM_001005518		Approved		uc010spl.2	A6NJZ3	OTTHUMG00000169955	ENST00000379665.2:c.784G>C	12.37:g.55795096G>C	ENSP00000368986:p.Ala262Pro						p.A262P	NM_001005518	NP_001005518	A6NJZ3	O6C65_HUMAN			1	784	+			262			Extracellular (Potential).		B2RNH9	Missense_Mutation	SNP	ENST00000379665.2	37	c.784G>C	CCDS31821.1	.	.	.	.	.	.	.	.	.	.	G	10.28	1.306852	0.23821	.	.	ENSG00000205328	ENST00000379665	T	0.00137	8.68	3.56	1.65	0.23941	GPCR, rhodopsin-like superfamily (1);	0.410133	0.17544	U	0.170428	T	0.00178	0.0005	L	0.49513	1.565	0.09310	N	1	P	0.40794	0.729	P	0.45856	0.495	T	0.32640	-0.9899	10	0.66056	D	0.02	.	1.3493	0.02169	0.2036:0.227:0.4144:0.155	.	262	A6NJZ3	O6C65_HUMAN	P	262	ENSP00000368986:A262P	ENSP00000368986:A262P	A	+	1	0	OR6C65	54081363	0.003000	0.15002	0.024000	0.17045	0.506000	0.33950	-0.942000	0.03921	0.293000	0.22520	0.424000	0.28305	GCA		PASS	0.388	OR6C65-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406674.1			75	61	75	61	---	---	---	---
OR10P1	121130	broad.mit.edu	37	12	56030896	56030896	+	Missense_Mutation	SNP	C	C	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr12:56030896C>A	ENST00000309675.2	+	1	253	c.221C>A	c.(220-222)aCc>aAc	p.T74N	RP11-644F5.16_ENST00000556606.1_RNA	NM_206899.1	NP_996782.1	Q8NGE3	O10P1_HUMAN	olfactory receptor, family 10, subfamily P, member 1	74						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.T74N(1)		autonomic_ganglia(1)|central_nervous_system(2)|endometrium(4)|large_intestine(3)|lung(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	26						CTCTTCTACACCACTGACATC	0.592																																						uc010spq.1																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)|pancreas(1)	2						c.(220-222)ACC>AAC		olfactory receptor, family 10, subfamily P,							106.0	91.0	96.0					12																	56030896		2203	4300	6503	SO:0001583	missense	121130				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr12:56030896C>A	BK004259	CCDS31828.1	12q13.13	2012-08-09		2004-03-10		ENSG00000175398		"""GPCR / Class A : Olfactory receptors"""	15378	protein-coding gene	gene with protein product				OR10P1P, OR10P2P, OR10P3P			Standard	NM_206899		Approved	OST701	uc010spq.2	Q8NGE3	OTTHUMG00000169961	ENST00000309675.2:c.221C>A	12.37:g.56030896C>A	ENSP00000308082:p.Thr74Asn						p.T74N	NM_206899	NP_996782	Q8NGE3	O10P1_HUMAN			1	221	+			74			Helical; Name=2; (Potential).		B9EGY4	Missense_Mutation	SNP	ENST00000309675.2	37	c.221C>A	CCDS31828.1	.	.	.	.	.	.	.	.	.	.	C	8.550	0.875371	0.17395	.	.	ENSG00000175398	ENST00000309675	T	0.00578	6.44	4.28	2.38	0.29361	GPCR, rhodopsin-like superfamily (1);	0.313690	0.23295	N	0.049747	T	0.01800	0.0057	M	0.85710	2.77	0.30894	N	0.730006	D	0.59767	0.986	P	0.53266	0.722	T	0.09997	-1.0649	10	0.52906	T	0.07	.	10.9799	0.47488	0.3381:0.6619:0.0:0.0	.	74	Q8NGE3	O10P1_HUMAN	N	74	ENSP00000308082:T74N	ENSP00000308082:T74N	T	+	2	0	OR10P1	54317163	0.005000	0.15991	0.827000	0.32855	0.002000	0.02628	0.634000	0.24614	0.526000	0.28541	-0.310000	0.09108	ACC		PASS	0.592	OR10P1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406680.1			75	46	75	46	---	---	---	---
RDH16	8608	broad.mit.edu	37	12	57346753	57346753	+	Silent	SNP	C	C	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr12:57346753C>A	ENST00000398138.3	-	3	1450	c.594G>T	c.(592-594)ggG>ggT	p.G198G	RDH16_ENST00000360752.4_5'UTR	NM_003708.3	NP_003699.3	O75452	RDH16_HUMAN	retinol dehydrogenase 16 (all-trans)	198					lipid metabolic process (GO:0006629)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)	electron carrier activity (GO:0009055)|retinol dehydrogenase activity (GO:0004745)	p.G198G(2)		haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(9)	16						CCACCTTCACCCCAAAGTAGG	0.458																																					GBM(179;741 2921 43105 45298)	uc001smi.3																			2	Substitution - coding silent(2)		lung(2)		0						c.(592-594)GGG>GGT		retinol dehydrogenase 16							108.0	104.0	105.0					12																	57346753		1848	4103	5951	SO:0001819	synonymous_variant	8608				lipid metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	binding|electron carrier activity|retinol dehydrogenase activity	g.chr12:57346753C>A		CCDS41797.1	12q13.3	2011-09-14	2006-05-09			ENSG00000139547		"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 2"""	29674	protein-coding gene	gene with protein product	"""microsomal NAD+ dependent retinol dehydrogenase 4"", ""short chain dehydrogenase/reductase family 9C, member 8"""		"""retinol dehydrogenase 16 (all-trans and 13-cis)"""			9677409, 10329026, 19027726	Standard	NM_003708		Approved	RODH-4, SDR9C8	uc001smi.4	O75452		ENST00000398138.3:c.594G>T	12.37:g.57346753C>A						RDH16_uc009zpa.2_Silent_p.G53G	p.G198G	NM_003708	NP_003699	O75452	RDH16_HUMAN			3	766	-			198			Cytoplasmic (Potential).		Q9UNV2	Silent	SNP	ENST00000398138.3	37	c.594G>T	CCDS41797.1																																																																																				PASS	0.458	RDH16-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410898.1	NM_003708		65	72	65	72	---	---	---	---
AGAP2	116986	broad.mit.edu	37	12	58126641	58126641	+	Silent	SNP	C	C	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr12:58126641C>A	ENST00000547588.1	-	6	1670	c.1671G>T	c.(1669-1671)cgG>cgT	p.R557R	AGAP2_ENST00000257897.3_Silent_p.R221R	NM_001122772.2	NP_001116244.1	Q99490	AGAP2_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 2	557	G domain.				axon guidance (GO:0007411)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of protein catabolic process (GO:0042177)|protein transport (GO:0015031)|regulation of ARF GTPase activity (GO:0032312)|small GTPase mediated signal transduction (GO:0007264)	membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ARF GTPase activator activity (GO:0008060)|GTP binding (GO:0005525)|zinc ion binding (GO:0008270)	p.R221R(1)|p.R557R(1)		breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|large_intestine(7)|lung(20)|prostate(3)|skin(1)|stomach(1)	48						CCTGGAAGACCCGATCCACAT	0.567																																						uc001spq.2																			2	Substitution - coding silent(2)		lung(2)	central_nervous_system(3)|breast(2)	5						c.(1669-1671)CGG>CGT		centaurin, gamma 1 isoform PIKE-L							290.0	278.0	282.0					12																	58126641		2203	4300	6503	SO:0001819	synonymous_variant	116986				axon guidance|negative regulation of neuron apoptosis|negative regulation of protein catabolic process|protein transport|regulation of ARF GTPase activity|small GTPase mediated signal transduction	mitochondrion|nucleolus	ARF GTPase activator activity|GTP binding|zinc ion binding	g.chr12:58126641C>A	AF413077	CCDS8951.1, CCDS44932.1	12q13.2	2013-05-30	2008-09-22	2008-09-22	ENSG00000135439	ENSG00000135439		"""ADP-ribosylation factor GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	16921	protein-coding gene	gene with protein product		605476	"""centaurin, gamma 1"""	CENTG1			Standard	NM_001122772		Approved		uc001spq.3	Q99490	OTTHUMG00000170285	ENST00000547588.1:c.1671G>T	12.37:g.58126641C>A						AGAP2_uc001spp.2_Silent_p.R557R|AGAP2_uc001spr.2_Silent_p.R221R	p.R557R	NM_001122772	NP_001116244	Q99490	AGAP2_HUMAN			6	1671	-			557			G domain.		A8K9F7|O00578|Q548E0|Q8IWU3	Silent	SNP	ENST00000547588.1	37	c.1671G>T	CCDS44932.1	.	.	.	.	.	.	.	.	.	.	C	9.270	1.045431	0.19748	.	.	ENSG00000135439	ENST00000328568	.	.	.	4.9	2.05	0.26809	.	.	.	.	.	T	0.45776	0.1359	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.26360	-1.0105	4	.	.	.	.	3.3566	0.07171	0.1401:0.5659:0.1362:0.1578	.	.	.	.	C	421	.	.	G	-	1	0	AGAP2	56412908	0.649000	0.27322	1.000000	0.80357	0.997000	0.91878	-0.158000	0.10070	0.351000	0.24027	0.655000	0.94253	GGT		PASS	0.567	AGAP2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408367.1	NM_014770		223	183	223	183	---	---	---	---
LRIG3	121227	broad.mit.edu	37	12	59268065	59268065	+	Missense_Mutation	SNP	T	T	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr12:59268065T>A	ENST00000320743.3	-	18	3173	c.2887A>T	c.(2887-2889)Agt>Tgt	p.S963C	LRIG3_ENST00000379141.4_Missense_Mutation_p.S903C	NM_153377.4	NP_700356.2	Q6UXM1	LRIG3_HUMAN	leucine-rich repeats and immunoglobulin-like domains 3	963					otolith morphogenesis (GO:0032474)	cytoplasmic vesicle (GO:0031410)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.S963C(1)	LRIG3/ROS1(2)	breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(12)|liver(1)|lung(14)|ovary(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48			GBM - Glioblastoma multiforme(1;1.17e-18)			TTTATGTAACTGGGCTCATAG	0.428			T	ROS1	NSCLC																																	uc001sqr.2				Dom	yes		12	12q14.1	121227		leucine-rich repeats and immunoglobulin-like domains 3			E					1	Substitution - Missense(1)		lung(1)	skin(3)|ovary(1)	4						c.(2887-2889)AGT>TGT		leucine-rich repeats and immunoglobulin-like							111.0	106.0	108.0					12																	59268065		2203	4300	6503	SO:0001583	missense	121227					integral to membrane		g.chr12:59268065T>A	AY505340	CCDS8960.1, CCDS44933.1	12q13.2	2013-01-11				ENSG00000139263		"""Immunoglobulin superfamily / I-set domain containing"""	30991	protein-coding gene	gene with protein product		608870					Standard	NM_153377		Approved	FLJ90440, KIAA3016	uc001sqr.4	Q6UXM1	OTTHUMG00000169940	ENST00000320743.3:c.2887A>T	12.37:g.59268065T>A	ENSP00000326759:p.Ser963Cys					LRIG3_uc009zqh.2_Missense_Mutation_p.S903C|LRIG3_uc010ssh.1_RNA	p.S963C	NM_153377	NP_700356	Q6UXM1	LRIG3_HUMAN	GBM - Glioblastoma multiforme(1;1.17e-18)		18	3133	-			963					Q6UXL7|Q8NC72	Missense_Mutation	SNP	ENST00000320743.3	37	c.2887A>T	CCDS8960.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	8.080|8.080	0.772170|0.772170	0.16051|0.16051	.|.	.|.	ENSG00000139263|ENSG00000139263	ENST00000550825|ENST00000379141;ENST00000320743	.|T;T	.|0.61627	.|0.12;0.09	5.83|5.83	2.19|2.19	0.27852|0.27852	.|.	.|0.162902	.|0.29139	.|N	.|0.013035	T|T	0.45657|0.45657	0.1353|0.1353	L|L	0.44542|0.44542	1.39|1.39	0.09310|0.09310	N|N	0.999999|0.999999	.|B;P	.|0.45348	.|0.007;0.856	.|B;B	.|0.40101	.|0.01;0.319	T|T	0.31447|0.31447	-0.9943|-0.9943	5|9	.|.	.|.	.|.	.|.	9.9782|9.9782	0.41797|0.41797	0.0:0.2746:0.0:0.7254|0.0:0.2746:0.0:0.7254	.|.	.|903;963	.|Q6UXM1-2;Q6UXM1	.|.;LRIG3_HUMAN	L|C	64|903;963	.|ENSP00000368436:S903C;ENSP00000326759:S963C	.|.	Q|S	-|-	2|1	0|0	LRIG3|LRIG3	57554332|57554332	0.581000|0.581000	0.26741|0.26741	0.809000|0.809000	0.32408|0.32408	0.003000|0.003000	0.03518|0.03518	0.395000|0.395000	0.20850|0.20850	0.472000|0.472000	0.27344|0.27344	-0.280000|-0.280000	0.10049|0.10049	CAG|AGT		PASS	0.428	LRIG3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406623.1	NM_153377		94	68	94	68	---	---	---	---
FRS2	10818	broad.mit.edu	37	12	69962853	69962853	+	Missense_Mutation	SNP	G	G	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr12:69962853G>T	ENST00000550389.1	+	3	289	c.43G>T	c.(43-45)Gat>Tat	p.D15Y	FRS2_ENST00000397997.2_Missense_Mutation_p.D15Y|FRS2_ENST00000549921.1_Missense_Mutation_p.D15Y|FRS2_ENST00000299293.2_Missense_Mutation_p.D15Y	NM_001278353.1|NM_001278357.1	NP_001265282.1|NP_001265286.1	Q8WU20	FRS2_HUMAN	fibroblast growth factor receptor substrate 2	15	IRS-type PTB. {ECO:0000255|PROSITE- ProRule:PRU00389}.				activation of MAPK activity (GO:0000187)|activation of MAPKK activity (GO:0000186)|anterior/posterior axis specification, embryo (GO:0008595)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|forebrain development (GO:0030900)|G-protein coupled receptor signaling pathway (GO:0007186)|gastrulation with mouth forming second (GO:0001702)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|lens fiber cell development (GO:0070307)|neuroblast proliferation (GO:0007405)|neurotrophin TRK receptor signaling pathway (GO:0048011)|optic placode formation involved in camera-type eye formation (GO:0046619)|organ induction (GO:0001759)|phosphatidylinositol-mediated signaling (GO:0048015)|prostate epithelial cord arborization involved in prostate glandular acinus morphogenesis (GO:0060527)|regulation of apoptotic process (GO:0042981)|regulation of epithelial cell proliferation (GO:0050678)|regulation of ERK1 and ERK2 cascade (GO:0070372)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)|ventricular septum development (GO:0003281)	cell-cell junction (GO:0005911)|endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	fibroblast growth factor receptor binding (GO:0005104)|neurotrophin TRKA receptor binding (GO:0005168)|phosphatase activator activity (GO:0019211)|transmembrane receptor protein tyrosine kinase adaptor activity (GO:0005068)	p.D15Y(2)		autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	22	Breast(13;2.15e-06)|Esophageal squamous(21;0.187)		Epithelial(6;2.94e-18)|Lung(24;9.68e-05)|OV - Ovarian serous cystadenocarcinoma(12;0.000984)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.0151)|Kidney(9;0.143)|LUSC - Lung squamous cell carcinoma(43;0.24)			CACTGTCCCAGATAACCATCG	0.353																																						uc001suy.2																			2	Substitution - Missense(2)		lung(2)	prostate(1)|kidney(1)	2						c.(43-45)GAT>TAT		fibroblast growth factor receptor substrate 2							92.0	90.0	90.0					12																	69962853		1847	4090	5937	SO:0001583	missense	10818				activation of MAPKK activity|activation of phospholipase C activity|fibroblast growth factor receptor signaling pathway|G-protein coupled receptor protein signaling pathway|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|transmembrane receptor protein tyrosine phosphatase signaling pathway	endomembrane system|endosome|integral to plasma membrane|membrane fraction	fibroblast growth factor receptor binding|insulin receptor binding|phosphatase activator activity|transmembrane receptor protein tyrosine kinase adaptor activity	g.chr12:69962853G>T	AF036717	CCDS41809.1	12q15	2008-02-05				ENSG00000166225			16971	protein-coding gene	gene with protein product		607743				8761293, 9660748	Standard	NM_001278351		Approved	SNT-1, FRS2alpha, SNT1, FRS2A	uc001suz.3	Q8WU20		ENST00000550389.1:c.43G>T	12.37:g.69962853G>T	ENSP00000447241:p.Asp15Tyr					FRS2_uc001suz.2_Missense_Mutation_p.D15Y|FRS2_uc009zrj.2_Missense_Mutation_p.D15Y|FRS2_uc009zrk.2_Missense_Mutation_p.D15Y	p.D15Y	NM_006654	NP_006645	Q8WU20	FRS2_HUMAN	Epithelial(6;2.94e-18)|Lung(24;9.68e-05)|OV - Ovarian serous cystadenocarcinoma(12;0.000984)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.0151)|Kidney(9;0.143)|LUSC - Lung squamous cell carcinoma(43;0.24)		6	553	+	Breast(13;2.15e-06)|Esophageal squamous(21;0.187)		15			IRS-type PTB.		B0LPF2|B2R684|O43558|Q7LDQ6	Missense_Mutation	SNP	ENST00000550389.1	37	c.43G>T	CCDS41809.1	.	.	.	.	.	.	.	.	.	.	G	29.7	5.032377	0.93575	.	.	ENSG00000166225	ENST00000547219;ENST00000299293;ENST00000549921;ENST00000548154;ENST00000550389;ENST00000550937;ENST00000549092;ENST00000397997;ENST00000551325	D;D;D;D;D;D	0.82711	-1.64;-1.64;-1.64;-1.64;-1.64;-1.64	5.22	5.22	0.72569	Pleckstrin homology-type (1);Insulin receptor substrate-1, PTB (1);	0.000000	0.85682	D	0.000000	D	0.90998	0.7169	M	0.75264	2.295	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.90530	0.4495	9	.	.	.	-28.1355	19.1538	0.93502	0.0:0.0:1.0:0.0	.	15	Q8WU20	FRS2_HUMAN	Y	15	ENSP00000299293:D15Y;ENSP00000450048:D15Y;ENSP00000447241:D15Y;ENSP00000447804:D15Y;ENSP00000381083:D15Y;ENSP00000449432:D15Y	.	D	+	1	0	FRS2	68249120	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.813000	0.99286	2.597000	0.87782	0.655000	0.94253	GAT		PASS	0.353	FRS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403760.1	NM_006654		50	40	50	40	---	---	---	---
TPH2	121278	broad.mit.edu	37	12	72372758	72372758	+	Missense_Mutation	SNP	G	G	C			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr12:72372758G>C	ENST00000333850.3	+	7	973	c.832G>C	c.(832-834)Gtg>Ctg	p.V278L		NM_173353.3	NP_775489.2	Q8IWU9	TPH2_HUMAN	tryptophan hydroxylase 2	278					aromatic amino acid family metabolic process (GO:0009072)|cellular nitrogen compound metabolic process (GO:0034641)|cellular response to lithium ion (GO:0071285)|circadian rhythm (GO:0007623)|indolalkylamine biosynthetic process (GO:0046219)|response to activity (GO:0014823)|response to calcium ion (GO:0051592)|response to estrogen (GO:0043627)|response to glucocorticoid (GO:0051384)|response to nutrient levels (GO:0031667)|serotonin biosynthetic process (GO:0042427)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|neuron projection (GO:0043005)	amino acid binding (GO:0016597)|iron ion binding (GO:0005506)|tryptophan 5-monooxygenase activity (GO:0004510)	p.V278L(1)		breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	41					L-Tryptophan(DB00150)	GGTGAGGCCGGTGGCTGGATA	0.527																																						uc009zrw.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)|central_nervous_system(1)|skin(1)	4						c.(832-834)GTG>CTG		tryptophan hydroxylase 2	L-Tryptophan(DB00150)						108.0	108.0	108.0					12																	72372758		2203	4300	6503	SO:0001583	missense	121278				aromatic amino acid family metabolic process|hormone biosynthetic process|serotonin biosynthetic process	cytosol	amino acid binding|iron ion binding|tryptophan 5-monooxygenase activity	g.chr12:72372758G>C	AY098914	CCDS31859.1	12q15	2008-02-07				ENSG00000139287	1.14.16.4		20692	protein-coding gene	gene with protein product		607478				12511643	Standard	NM_173353		Approved	NTPH, FLJ37295	uc009zrw.1	Q8IWU9		ENST00000333850.3:c.832G>C	12.37:g.72372758G>C	ENSP00000329093:p.Val278Leu					TPH2_uc001swy.2_Missense_Mutation_p.V188L	p.V278L	NM_173353	NP_775489	Q8IWU9	TPH2_HUMAN			7	973	+			278					A6NGA4|Q14CB0	Missense_Mutation	SNP	ENST00000333850.3	37	c.832G>C	CCDS31859.1	.	.	.	.	.	.	.	.	.	.	G	32	5.180270	0.94846	.	.	ENSG00000139287	ENST00000333850	D	0.99784	-6.74	5.47	5.47	0.80525	Aromatic amino acid hydroxylase, C-terminal (4);	0.000000	0.85682	D	0.000000	D	0.99880	0.9943	H	0.97758	4.07	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	D	0.96472	0.9349	10	0.87932	D	0	-19.1318	19.3166	0.94216	0.0:0.0:1.0:0.0	.	278	Q8IWU9	TPH2_HUMAN	L	278	ENSP00000329093:V278L	ENSP00000329093:V278L	V	+	1	0	TPH2	70659025	1.000000	0.71417	0.976000	0.42696	0.980000	0.70556	9.869000	0.99810	2.570000	0.86706	0.555000	0.69702	GTG		PASS	0.527	TPH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405234.1	NM_173353		76	61	76	61	---	---	---	---
NAV3	89795	broad.mit.edu	37	12	78400815	78400815	+	Silent	SNP	C	C	G			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr12:78400815C>G	ENST00000397909.2	+	8	1670	c.1497C>G	c.(1495-1497)acC>acG	p.T499T	NAV3_ENST00000536525.2_Silent_p.T499T|NAV3_ENST00000228327.6_Silent_p.T499T|NAV3_ENST00000266692.7_Silent_p.T499T			Q8IVL0	NAV3_HUMAN	neuron navigator 3	499						membrane (GO:0016020)|nuclear envelope (GO:0005635)		p.T499T(1)		NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						CAAAAAAGACCTCCAAAATTG	0.418										HNSCC(70;0.22)																												uc001syp.2																			1	Substitution - coding silent(1)		lung(1)	large_intestine(6)|ovary(5)|lung(2)|breast(1)|skin(1)|kidney(1)|pancreas(1)	17						c.(1495-1497)ACC>ACG		neuron navigator 3							77.0	76.0	77.0					12																	78400815		1893	4116	6009	SO:0001819	synonymous_variant	89795					nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity	g.chr12:78400815C>G	AB023155	CCDS41815.1, CCDS66432.1	12q14.3	2008-08-05				ENSG00000067798			15998	protein-coding gene	gene with protein product	"""pore membrane and/or filament interacting like protein 1"", ""steerin 3"""	611629				12079279, 12062803	Standard	XM_005269215		Approved	KIAA0938, POMFIL1	uc001syo.3	Q8IVL0	OTTHUMG00000170001	ENST00000397909.2:c.1497C>G	12.37:g.78400815C>G		HNSCC(70;0.22)				NAV3_uc001syo.2_Silent_p.T499T	p.T499T	NM_014903	NP_055718	Q8IVL0	NAV3_HUMAN			8	1670	+			499					Q8NFW7|Q9Y2E7	Silent	SNP	ENST00000397909.2	37	c.1497C>G																																																																																					PASS	0.418	NAV3-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000406812.1	NM_001024383		49	50	49	50	---	---	---	---
ALX1	8092	broad.mit.edu	37	12	85677442	85677442	+	Missense_Mutation	SNP	G	G	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr12:85677442G>T	ENST00000316824.3	+	2	474	c.319G>T	c.(319-321)Gtg>Ttg	p.V107L		NM_006982.2	NP_008913.2	Q15699	ALX1_HUMAN	ALX homeobox 1	107					anterior/posterior pattern specification (GO:0009952)|brain development (GO:0007420)|cartilage condensation (GO:0001502)|embryonic limb morphogenesis (GO:0030326)|embryonic skeletal system morphogenesis (GO:0048704)|mesenchymal cell development (GO:0014031)|multicellular organismal development (GO:0007275)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural tube closure (GO:0001843)|palate development (GO:0060021)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)	p.V107L(1)		breast(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(16)|ovary(1)	26				GBM - Glioblastoma multiforme(134;0.134)		AATGTCTCCCGTGAAAGGGAT	0.483																																						uc001tae.3																			1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.(319-321)GTG>TTG		cartilage paired-class homeoprotein 1							115.0	108.0	110.0					12																	85677442		2203	4300	6503	SO:0001583	missense	8092				brain development|cartilage condensation|negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter		sequence-specific DNA binding transcription factor activity|transcription corepressor activity	g.chr12:85677442G>T	U31986	CCDS9028.1	12q21.31	2011-06-20	2007-07-26	2007-07-26		ENSG00000180318		"""Homeoboxes / PRD class"""	1494	protein-coding gene	gene with protein product		601527	"""cartilage paired-class homeoprotein 1"""	CART1		8756334, 7592751	Standard	NM_006982		Approved		uc001tae.4	Q15699	OTTHUMG00000169820	ENST00000316824.3:c.319G>T	12.37:g.85677442G>T	ENSP00000315417:p.Val107Leu						p.V107L	NM_006982	NP_008913	Q15699	ALX1_HUMAN		GBM - Glioblastoma multiforme(134;0.134)	2	323	+			107					Q546C8|Q96FH4	Missense_Mutation	SNP	ENST00000316824.3	37	c.319G>T	CCDS9028.1	.	.	.	.	.	.	.	.	.	.	G	18.41	3.617088	0.66672	.	.	ENSG00000180318	ENST00000316824	D	0.91945	-2.94	5.62	5.62	0.85841	.	0.366411	0.30667	N	0.009121	D	0.83344	0.5234	N	0.08118	0	0.42940	D	0.994343	P	0.35242	0.492	B	0.28784	0.094	T	0.82084	-0.0632	10	0.27785	T	0.31	.	20.0205	0.97499	0.0:0.0:1.0:0.0	.	107	Q15699	ALX1_HUMAN	L	107	ENSP00000315417:V107L	ENSP00000315417:V107L	V	+	1	0	ALX1	84201573	1.000000	0.71417	0.967000	0.41034	0.916000	0.54674	7.238000	0.78173	2.801000	0.96364	0.650000	0.86243	GTG		PASS	0.483	ALX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406072.1	NM_006982		37	35	37	35	---	---	---	---
ALX1	8092	broad.mit.edu	37	12	85677506	85677506	+	Missense_Mutation	SNP	C	C	G			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr12:85677506C>G	ENST00000316824.3	+	2	538	c.383C>G	c.(382-384)tCc>tGc	p.S128C		NM_006982.2	NP_008913.2	Q15699	ALX1_HUMAN	ALX homeobox 1	128					anterior/posterior pattern specification (GO:0009952)|brain development (GO:0007420)|cartilage condensation (GO:0001502)|embryonic limb morphogenesis (GO:0030326)|embryonic skeletal system morphogenesis (GO:0048704)|mesenchymal cell development (GO:0014031)|multicellular organismal development (GO:0007275)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural tube closure (GO:0001843)|palate development (GO:0060021)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)	p.S128C(1)		breast(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(16)|ovary(1)	26				GBM - Glioblastoma multiforme(134;0.134)		AGCAATGTATCCAGCAGTAAG	0.478																																						uc001tae.3																			1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.(382-384)TCC>TGC		cartilage paired-class homeoprotein 1							132.0	126.0	128.0					12																	85677506		2203	4300	6503	SO:0001583	missense	8092				brain development|cartilage condensation|negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter		sequence-specific DNA binding transcription factor activity|transcription corepressor activity	g.chr12:85677506C>G	U31986	CCDS9028.1	12q21.31	2011-06-20	2007-07-26	2007-07-26		ENSG00000180318		"""Homeoboxes / PRD class"""	1494	protein-coding gene	gene with protein product		601527	"""cartilage paired-class homeoprotein 1"""	CART1		8756334, 7592751	Standard	NM_006982		Approved		uc001tae.4	Q15699	OTTHUMG00000169820	ENST00000316824.3:c.383C>G	12.37:g.85677506C>G	ENSP00000315417:p.Ser128Cys						p.S128C	NM_006982	NP_008913	Q15699	ALX1_HUMAN		GBM - Glioblastoma multiforme(134;0.134)	2	387	+			128					Q546C8|Q96FH4	Missense_Mutation	SNP	ENST00000316824.3	37	c.383C>G	CCDS9028.1	.	.	.	.	.	.	.	.	.	.	C	24.9	4.579924	0.86645	.	.	ENSG00000180318	ENST00000316824	D	0.95690	-3.78	5.58	5.58	0.84498	Homeodomain-related (1);Homeodomain-like (1);	0.050552	0.85682	D	0.000000	D	0.95564	0.8558	N	0.24115	0.695	0.80722	D	1	D	0.61697	0.99	P	0.62649	0.905	D	0.95837	0.8863	10	0.56958	D	0.05	.	20.0008	0.97408	0.0:1.0:0.0:0.0	.	128	Q15699	ALX1_HUMAN	C	128	ENSP00000315417:S128C	ENSP00000315417:S128C	S	+	2	0	ALX1	84201637	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.528000	0.67129	2.796000	0.96246	0.644000	0.83932	TCC		PASS	0.478	ALX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406072.1	NM_006982		38	42	38	42	---	---	---	---
CLLU1OS	574016	broad.mit.edu	37	12	92814818	92814818	+	Missense_Mutation	SNP	C	C	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr12:92814818C>T	ENST00000378487.2	-	3	275	c.274G>A	c.(274-276)Gat>Aat	p.D92N	RP11-693J15.4_ENST00000508671.1_RNA|CLLU1_ENST00000378485.1_5'Flank|CLLU1OS_ENST00000538965.1_Missense_Mutation_p.D92N	NM_001025232.1	NP_001020403.1	Q5K130	CLU1O_HUMAN	chronic lymphocytic leukemia up-regulated 1 opposite strand	92								p.D92N(1)		large_intestine(1)|lung(7)	8						TTCTTCCCATCATCATTGCCC	0.438																																						uc001tcb.1																			1	Substitution - Missense(1)		lung(1)		0						c.(274-276)GAT>AAT		chronic lymphocytic leukemia up-regulated 1							502.0	466.0	479.0					12																	92814818		2203	4300	6503	SO:0001583	missense	574016							g.chr12:92814818C>T	AJ845168	CCDS31871.1	12q22	2006-03-30	2006-03-30		ENSG00000205057	ENSG00000205057			24070	protein-coding gene	gene with protein product			"""chronic lymphocytic leukemia up-regulated 1 overlapping strand"""				Standard	NM_001025232		Approved		uc001tcb.1	Q5K130	OTTHUMG00000161990	ENST00000378487.2:c.274G>A	12.37:g.92814818C>T	ENSP00000367748:p.Asp92Asn					CLLU1_uc001tcc.2_5'Flank|CLLU1_uc001tcd.2_5'Flank|CLLU1_uc001tce.1_5'Flank|CLLU1_uc001tcf.2_5'Flank	p.D92N	NM_001025232	NP_001020403	Q5K130	CLU1O_HUMAN			3	276	-			92						Missense_Mutation	SNP	ENST00000378487.2	37	c.274G>A	CCDS31871.1	.	.	.	.	.	.	.	.	.	.	c	2.663	-0.279253	0.05642	.	.	ENSG00000205057	ENST00000378487;ENST00000538965	.	.	.	3.22	-3.71	0.04424	.	.	.	.	.	T	0.14227	0.0344	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.19224	-1.0312	8	0.87932	D	0	.	0.8569	0.01184	0.3013:0.3309:0.2077:0.1601	.	92	Q5K130	CLU1O_HUMAN	N	92	.	ENSP00000367748:D92N	D	-	1	0	CLLU1OS	91338949	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.744000	0.04839	-0.788000	0.04504	-4.072000	0.00012	GAT		PASS	0.438	CLLU1OS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366646.1			242	228	242	228	---	---	---	---
ANKS1B	56899	broad.mit.edu	37	12	99225845	99225845	+	Missense_Mutation	SNP	C	C	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr12:99225845C>T	ENST00000547776.2	-	18	2847	c.2848G>A	c.(2848-2850)Gat>Aat	p.D950N	ANKS1B_ENST00000547446.1_Missense_Mutation_p.D145N|ANKS1B_ENST00000549025.2_Intron|ANKS1B_ENST00000550693.2_Missense_Mutation_p.D176N|ANKS1B_ENST00000547010.1_Missense_Mutation_p.D526N|ANKS1B_ENST00000549558.2_Missense_Mutation_p.D176N|ANKS1B_ENST00000341752.7_5'UTR|ANKS1B_ENST00000329257.7_Missense_Mutation_p.D950N|ANKS1B_ENST00000546568.1_Missense_Mutation_p.D176N|ANKS1B_ENST00000549493.2_Missense_Mutation_p.D176N|ANKS1B_ENST00000546960.1_Missense_Mutation_p.D176N|ANKS1B_ENST00000332712.7_Missense_Mutation_p.D176N|ANKS1B_ENST00000333732.7_5'UTR	NM_152788.4	NP_690001.3	Q7Z6G8	ANS1B_HUMAN	ankyrin repeat and sterile alpha motif domain containing 1B	950						cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)	ephrin receptor binding (GO:0046875)	p.D950N(1)|p.D176N(1)		NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(15)|lung(38)|pancreas(1)|prostate(2)|skin(1)	70		all_cancers(3;0.0197)|all_epithelial(3;0.0101)|Esophageal squamous(3;0.0559)|Breast(359;0.209)		OV - Ovarian serous cystadenocarcinoma(2;2.89e-08)|Epithelial(2;6.12e-08)|all cancers(2;4.07e-06)		TGTGGGGGATCGTCGTGCAGC	0.438																																						uc001tge.1																			2	Substitution - Missense(2)		lung(2)		0						c.(2848-2850)GAT>AAT		cajalin 2 isoform a							37.0	41.0	40.0					12																	99225845		1936	4124	6060	SO:0001583	missense	56899					Cajal body|cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane		g.chr12:99225845C>T	AF145204	CCDS55864.1, CCDS55865.1, CCDS55866.1, CCDS55867.1, CCDS55868.1, CCDS55869.1, CCDS55870.1, CCDS55871.1, CCDS55872.1	12q23.1	2013-01-10						"""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	24600	protein-coding gene	gene with protein product		607815				10490826, 12415113	Standard	NM_020140		Approved	EB-1, AIDA-1, cajalin-2, ANKS2	uc001tge.2	Q7Z6G8		ENST00000547776.2:c.2848G>A	12.37:g.99225845C>T	ENSP00000449629:p.Asp950Asn					ANKS1B_uc001tgf.1_Missense_Mutation_p.D526N|ANKS1B_uc001tgk.2_Missense_Mutation_p.D247N|ANKS1B_uc010svd.1_5'UTR|ANKS1B_uc001tgd.1_Missense_Mutation_p.D176N|ANKS1B_uc009ztq.2_5'UTR|ANKS1B_uc010sve.1_5'UTR|ANKS1B_uc001tgh.3_5'UTR|ANKS1B_uc001tgi.2_Missense_Mutation_p.D176N|ANKS1B_uc009ztr.2_Missense_Mutation_p.D176N|ANKS1B_uc001tgj.2_Missense_Mutation_p.D176N|ANKS1B_uc009ztp.2_5'UTR|ANKS1B_uc010svf.1_5'UTR|ANKS1B_uc001tgg.3_Intron|ANKS1B_uc010svg.1_Missense_Mutation_p.D145N|ANKS1B_uc009zts.1_Missense_Mutation_p.D176N|ANKS1B_uc001tgm.1_Missense_Mutation_p.D176N	p.D950N	NM_152788	NP_690001	Q7Z6G8	ANS1B_HUMAN		OV - Ovarian serous cystadenocarcinoma(2;2.89e-08)|Epithelial(2;6.12e-08)|all cancers(2;4.07e-06)	18	3265	-		all_cancers(3;0.0197)|all_epithelial(3;0.0101)|Esophageal squamous(3;0.0559)|Breast(359;0.209)	950					A5PKY5|A7E259|A8K153|A8MSN4|B4DFP6|B4DH98|F8VPM3|F8VZR9|F8WC27|Q5XLJ0|Q6IVB5|Q6NUS4|Q7Z6G6|Q7Z6G7|Q8TAP3|Q9NRX7|Q9Y5K9	Missense_Mutation	SNP	ENST00000547776.2	37	c.2848G>A	CCDS55872.1	.	.	.	.	.	.	.	.	.	.	C	33	5.236481	0.95240	.	.	ENSG00000185046	ENST00000549558;ENST00000547776;ENST00000547010;ENST00000329257;ENST00000538702;ENST00000550693;ENST00000549493;ENST00000547446;ENST00000546568;ENST00000332712;ENST00000546960;ENST00000552245	T;T;T;T;T;T;T;T;T;T	0.70399	-0.1;0.94;0.16;0.94;-0.08;-0.1;-0.48;-0.08;0.24;-0.11	5.28	5.28	0.74379	Sterile alpha motif/pointed domain (2);	0.234251	0.31772	N	0.007098	T	0.77955	0.4208	L	0.43152	1.355	0.52501	D	0.999954	D;B;D;D;B;B;D;P;D;D	0.71674	0.994;0.22;0.997;0.994;0.22;0.123;0.991;0.735;0.998;0.987	P;B;P;P;B;B;P;B;P;P	0.61800	0.669;0.074;0.892;0.894;0.074;0.027;0.786;0.358;0.771;0.483	T	0.79741	-0.1676	10	0.72032	D	0.01	-7.7441	17.439	0.87560	0.0:1.0:0.0:0.0	.	145;176;176;176;164;176;176;526;950;176	F8VPM3;Q7Z6G8-4;Q7Z6G8-5;F8VZ47;F8VQW6;Q7Z6G8-2;Q7Z6G8-3;Q7Z6G8-6;Q7Z6G8;Q7Z6G8-7	.;.;.;.;.;.;.;.;ANS1B_HUMAN;.	N	176;950;526;950;525;176;176;145;176;176;176;176	ENSP00000448993:D176N;ENSP00000449629:D950N;ENSP00000448512:D526N;ENSP00000331381:D950N;ENSP00000447999:D176N;ENSP00000448203:D176N;ENSP00000450015:D145N;ENSP00000448205:D176N;ENSP00000332683:D176N;ENSP00000447839:D176N	ENSP00000331381:D950N	D	-	1	0	ANKS1B	97749976	1.000000	0.71417	0.207000	0.23584	0.905000	0.53344	7.108000	0.77055	2.638000	0.89438	0.561000	0.74099	GAT		PASS	0.438	ANKS1B-003	KNOWN	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000408421.3	NM_020140		8	2	8	2	---	---	---	---
MYBPC1	4604	broad.mit.edu	37	12	102046932	102046932	+	Missense_Mutation	SNP	A	A	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr12:102046932A>T	ENST00000550270.1	+	16	1598	c.1598A>T	c.(1597-1599)aAc>aTc	p.N533I	MYBPC1_ENST00000392934.3_Missense_Mutation_p.N520I|MYBPC1_ENST00000553190.1_Missense_Mutation_p.N533I|MYBPC1_ENST00000452455.2_Missense_Mutation_p.N533I|MYBPC1_ENST00000361466.2_Missense_Mutation_p.N558I|RP11-755O11.2_ENST00000547027.1_RNA|MYBPC1_ENST00000547405.1_Missense_Mutation_p.N507I|MYBPC1_ENST00000547509.1_Missense_Mutation_p.N519I|MYBPC1_ENST00000549145.1_Missense_Mutation_p.N546I|RP11-755O11.2_ENST00000552081.1_RNA|MYBPC1_ENST00000551300.1_Missense_Mutation_p.N434I|MYBPC1_ENST00000545503.2_Missense_Mutation_p.N533I|MYBPC1_ENST00000441232.1_Missense_Mutation_p.N533I|MYBPC1_ENST00000536007.1_Missense_Mutation_p.N514I|MYBPC1_ENST00000550501.1_Intron|MYBPC1_ENST00000360610.2_Missense_Mutation_p.N533I|MYBPC1_ENST00000541119.1_Missense_Mutation_p.N521I|MYBPC1_ENST00000361685.2_Missense_Mutation_p.N558I			Q00872	MYPC1_HUMAN	myosin binding protein C, slow type	533	Ig-like C2-type 5.				cell adhesion (GO:0007155)|muscle filament sliding (GO:0030049)	cytosol (GO:0005829)|myofibril (GO:0030016)|myosin filament (GO:0032982)	structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)	p.N558I(1)|p.N533I(1)		breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|liver(1)|lung(22)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2)	57						GATGCTGACAACACAGTGACA	0.443																																						uc001tii.2																			2	Substitution - Missense(2)		lung(2)	ovary(2)|liver(1)|skin(1)	4						c.(1597-1599)AAC>ATC		myosin binding protein C, slow type isoform 3							141.0	130.0	134.0					12																	102046932		2203	4300	6503	SO:0001583	missense	4604				cell adhesion|muscle filament sliding	cytosol|myofibril|myosin filament	actin binding|structural constituent of muscle|titin binding	g.chr12:102046932A>T		CCDS9083.1, CCDS9084.1, CCDS9085.1, CCDS55877.1, CCDS58268.1, CCDS58269.1, CCDS58270.1, CCDS58271.1, CCDS58272.1, CCDS58273.1	12q23.2	2013-02-11	2001-11-28		ENSG00000196091	ENSG00000196091		"""Myosin binding proteins"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	7549	protein-coding gene	gene with protein product		160794	"""myosin-binding protein C, slow-type"""			8375400, 16918501	Standard	NM_002465		Approved		uc010svs.2	Q00872	OTTHUMG00000170274	ENST00000550270.1:c.1598A>T	12.37:g.102046932A>T	ENSP00000449702:p.Asn533Ile					MYBPC1_uc001tig.2_Missense_Mutation_p.N558I|MYBPC1_uc010svq.1_Missense_Mutation_p.N520I|MYBPC1_uc001tih.2_Missense_Mutation_p.N558I|MYBPC1_uc001tij.2_Missense_Mutation_p.N533I|MYBPC1_uc010svr.1_Missense_Mutation_p.N533I|MYBPC1_uc010svs.1_Missense_Mutation_p.N533I|MYBPC1_uc010svt.1_Missense_Mutation_p.N521I|MYBPC1_uc010svu.1_Missense_Mutation_p.N514I|MYBPC1_uc001tik.2_Missense_Mutation_p.N507I	p.N533I	NM_206820	NP_996556	Q00872	MYPC1_HUMAN			16	1700	+			533			Ig-like C2-type 5.		B4DKR5|B7Z8G8|B7ZL02|B7ZL09|B7ZL10|E7ESM5|E7EWS6|G3XAE8|Q15497|Q17RR7|Q569K7|Q86T48|Q86TC8|Q8N3L2	Missense_Mutation	SNP	ENST00000550270.1	37	c.1598A>T	CCDS9085.1	.	.	.	.	.	.	.	.	.	.	A	26.2	4.714425	0.89112	.	.	ENSG00000196091	ENST00000547405;ENST00000452455;ENST00000441232;ENST00000360610;ENST00000392934;ENST00000547509;ENST00000361685;ENST00000549145;ENST00000553190;ENST00000540770;ENST00000545503;ENST00000536007;ENST00000541119;ENST00000361466;ENST00000551300;ENST00000550270	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.59906	0.26;0.25;0.24;0.26;0.26;0.25;0.26;0.26;0.27;0.23;0.27;0.25;0.23;0.29;0.26	5.71	5.71	0.89125	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.56097	D	0.000039	T	0.76271	0.3964	M	0.74647	2.275	0.80722	D	1	B;D;D;D;D;D;D;D;D;D	0.89917	0.408;1.0;0.999;1.0;0.999;0.966;0.999;1.0;0.98;0.999	P;D;D;D;D;P;D;D;D;D	0.97110	0.505;1.0;0.995;0.999;0.999;0.89;0.999;0.999;0.911;0.999	T	0.79388	-0.1824	10	0.87932	D	0	.	15.9781	0.80086	1.0:0.0:0.0:0.0	.	514;521;533;533;520;507;533;533;558;558	B7ZL02;B7ZL10;E7EWS6;B7ZL09;E7ESM5;Q17RR7;Q00872-3;Q00872;G3XAE8;Q00872-2	.;.;.;.;.;.;.;MYPC1_HUMAN;.;.	I	507;533;533;533;520;519;558;546;533;558;533;514;521;558;434;533	ENSP00000448175:N507I;ENSP00000400908:N533I;ENSP00000388989:N533I;ENSP00000353822:N533I;ENSP00000376665:N520I;ENSP00000447362:N519I;ENSP00000354845:N558I;ENSP00000447660:N546I;ENSP00000447900:N533I;ENSP00000440034:N533I;ENSP00000446128:N514I;ENSP00000442847:N521I;ENSP00000354849:N558I;ENSP00000447116:N434I;ENSP00000449702:N533I	ENSP00000353822:N533I	N	+	2	0	MYBPC1	100571063	1.000000	0.71417	0.991000	0.47740	0.983000	0.72400	7.013000	0.76373	2.171000	0.68590	0.533000	0.62120	AAC		PASS	0.443	MYBPC1-024	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000408806.1			41	40	41	40	---	---	---	---
PAH	5053	broad.mit.edu	37	12	103310894	103310894	+	Silent	SNP	G	G	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr12:103310894G>T	ENST00000553106.1	-	1	487	c.15C>A	c.(13-15)gtC>gtA	p.V5V	PAH_ENST00000307000.2_5'UTR|PAH_ENST00000551988.1_5'UTR	NM_000277.1	NP_000268.1	P00439	PH4H_HUMAN	phenylalanine hydroxylase	5					catecholamine biosynthetic process (GO:0042423)|cellular amino acid biosynthetic process (GO:0008652)|cellular nitrogen compound metabolic process (GO:0034641)|L-phenylalanine catabolic process (GO:0006559)|neurotransmitter biosynthetic process (GO:0042136)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	amino acid binding (GO:0016597)|iron ion binding (GO:0005506)|phenylalanine 4-monooxygenase activity (GO:0004505)	p.V5V(1)		endometrium(1)|kidney(3)|large_intestine(5)|lung(10)|ovary(5)|skin(2)|urinary_tract(1)	27					Droxidopa(DB06262)|Epinephrine(DB00668)|L-Phenylalanine(DB00120)|Norepinephrine(DB00368)|Tetrahydrobiopterin(DB00360)	GGTTTTCCAGGACCGCAGTGG	0.572																																						uc001tjq.1																			1	Substitution - coding silent(1)		lung(1)	ovary(4)	4						c.(13-15)GTC>GTA		phenylalanine hydroxylase	Epinephrine(DB00668)|L-Phenylalanine(DB00120)|Levodopa(DB01235)|Norepinephrine(DB00368)|Tetrahydrobiopterin(DB00360)						78.0	75.0	76.0					12																	103310894		2203	4300	6503	SO:0001819	synonymous_variant	5053				catecholamine biosynthetic process|L-phenylalanine catabolic process|neurotransmitter biosynthetic process	cytosol	phenylalanine 4-monooxygenase activity	g.chr12:103310894G>T	U49897	CCDS9092.1	12q22-q24.2	2010-04-27				ENSG00000171759	1.14.16.1		8582	protein-coding gene	gene with protein product	"""phenylalanine 4-monooxygenase"""	612349				2063869	Standard	NM_000277		Approved	PH	uc001tjq.1	P00439		ENST00000553106.1:c.15C>A	12.37:g.103310894G>T						PAH_uc010swc.1_Silent_p.V5V	p.V5V	NM_000277	NP_000268	P00439	PH4H_HUMAN			2	487	-			5					Q16717|Q8TC14	Silent	SNP	ENST00000553106.1	37	c.15C>A	CCDS9092.1																																																																																				PASS	0.572	PAH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406692.1			36	34	36	34	---	---	---	---
STAB2	55576	broad.mit.edu	37	12	104089513	104089513	+	Splice_Site	SNP	A	A	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr12:104089513A>T	ENST00000388887.2	+	33	3678		c.e33-1			NM_017564.9	NP_060034.9			stabilin 2									p.?(1)		NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2)	174						TTTCCATCGCAGCAATATAAT	0.483																																						uc001tjw.2																			1	Unknown(1)		lung(1)	ovary(9)|skin(5)	14						c.e33-2		stabilin 2 precursor							101.0	94.0	96.0					12																	104089513		2203	4300	6503	SO:0001630	splice_region_variant	55576				angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis	cytoplasm|external side of plasma membrane|integral to plasma membrane	Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity	g.chr12:104089513A>T	AF160476	CCDS31888.1	12q23.3	2007-01-29				ENSG00000136011			18629	protein-coding gene	gene with protein product	"""hyaluronic acid receptor for endocytosis"""	608561				11829752, 12077138	Standard	XR_429107		Approved	DKFZP434E0321, FELL, STAB-2, HARE, FEEL-2	uc001tjw.3	Q8WWQ8	OTTHUMG00000170056	ENST00000388887.2:c.3475-1A>T	12.37:g.104089513A>T							p.Q1159_splice	NM_017564	NP_060034	Q8WWQ8	STAB2_HUMAN			33	3661	+									Splice_Site	SNP	ENST00000388887.2	37	c.3475_splice	CCDS31888.1	.	.	.	.	.	.	.	.	.	.	A	13.35	2.211811	0.39102	.	.	ENSG00000136011	ENST00000388887	.	.	.	6.17	6.17	0.99709	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.3933	0.74767	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	STAB2	102613643	1.000000	0.71417	0.996000	0.52242	0.092000	0.18411	7.171000	0.77595	2.371000	0.80710	0.533000	0.62120	.		PASS	0.483	STAB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407089.1		Intron	53	34	53	34	---	---	---	---
APPL2	55198	broad.mit.edu	37	12	105583577	105583577	+	Missense_Mutation	SNP	C	C	G			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr12:105583577C>G	ENST00000258530.3	-	16	1657	c.1432G>C	c.(1432-1434)Gag>Cag	p.E478Q	APPL2_ENST00000551662.1_Missense_Mutation_p.E484Q|APPL2_ENST00000539978.2_Missense_Mutation_p.E435Q	NM_001251904.1|NM_018171.3	NP_001238833.1|NP_060641.2	Q06481	APLP2_HUMAN	adaptor protein, phosphotyrosine interaction, PH domain and leucine zipper containing 2	0					cellular copper ion homeostasis (GO:0006878)|cholesterol metabolic process (GO:0008203)|extracellular matrix organization (GO:0030198)|forebrain development (GO:0030900)|G-protein coupled receptor signaling pathway (GO:0007186)|locomotory behavior (GO:0007626)|mating behavior (GO:0007617)|midbrain development (GO:0030901)|neuromuscular process controlling balance (GO:0050885)|regulation of epidermal growth factor-activated receptor activity (GO:0007176)|regulation of protein binding (GO:0043393)|suckling behavior (GO:0001967)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|serine-type endopeptidase inhibitor activity (GO:0004867)|transition metal ion binding (GO:0046914)	p.E478Q(1)		breast(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	33						GATTCATCCTCAGTTTCACCA	0.433																																						uc001tlf.1																			1	Substitution - Missense(1)		lung(1)	upper_aerodigestive_tract(1)	1						c.(1432-1434)GAG>CAG		adaptor protein, phosphotyrosine interaction, PH							118.0	101.0	107.0					12																	105583577		2203	4300	6503	SO:0001583	missense	55198				cell cycle|cell proliferation|signal transduction	early endosome membrane|nucleus	protein binding	g.chr12:105583577C>G	AY113704	CCDS9101.1, CCDS58275.1, CCDS58276.1	12q23.3	2014-08-12			ENSG00000136044	ENSG00000136044		"""Pleckstrin homology (PH) domain containing"""	18242	protein-coding gene	gene with protein product		606231				11431708, 17030088	Standard	NM_001251904		Approved	FLJ10659, DIP13B	uc010swu.1	Q8NEU8	OTTHUMG00000169853	ENST00000258530.3:c.1432G>C	12.37:g.105583577C>G	ENSP00000258530:p.Glu478Gln					APPL2_uc010swt.1_Missense_Mutation_p.E435Q|APPL2_uc001tlg.1_Missense_Mutation_p.E232Q|APPL2_uc010swu.1_Missense_Mutation_p.E484Q|APPL2_uc009zuq.2_Missense_Mutation_p.E435Q	p.E478Q	NM_018171	NP_060641	Q8NEU8	DP13B_HUMAN			16	1650	-			478					B3KXX9|H7BXI4|Q13861|Q14594|Q14662|Q71U10|Q7M4L3|Q9BT36	Missense_Mutation	SNP	ENST00000258530.3	37	c.1432G>C	CCDS9101.1	.	.	.	.	.	.	.	.	.	.	C	15.50	2.852110	0.51270	.	.	ENSG00000136044	ENST00000258530;ENST00000539978;ENST00000551662;ENST00000553109	T;T;T	0.23754	2.69;1.89;2.47	5.67	5.67	0.87782	.	0.096333	0.64402	D	0.000001	T	0.32496	0.0831	L	0.50333	1.59	0.54753	D	0.999986	P;P;P	0.52463	0.953;0.843;0.679	P;P;B	0.50270	0.636;0.47;0.329	T	0.01152	-1.1435	10	0.28530	T	0.3	-29.4604	13.0332	0.58854	0.0:0.9267:0.0:0.0733	.	484;435;478	F8W1P5;B7Z1Q8;Q8NEU8	.;.;DP13B_HUMAN	Q	478;435;484;26	ENSP00000258530:E478Q;ENSP00000444472:E435Q;ENSP00000446917:E484Q	ENSP00000258530:E478Q	E	-	1	0	APPL2	104107707	1.000000	0.71417	0.988000	0.46212	0.704000	0.40688	6.419000	0.73345	2.667000	0.90743	0.563000	0.77884	GAG		PASS	0.433	APPL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406238.3	NM_018171		37	24	37	24	---	---	---	---
NUAK1	9891	broad.mit.edu	37	12	106477667	106477667	+	Missense_Mutation	SNP	A	A	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr12:106477667A>T	ENST00000261402.2	-	4	1933	c.554T>A	c.(553-555)cTg>cAg	p.L185Q		NM_014840.2	NP_055655.1	O60285	NUAK1_HUMAN	NUAK family, SNF1-like kinase, 1	185	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell adhesion (GO:0007155)|cellular response to DNA damage stimulus (GO:0006974)|regulation of cell adhesion (GO:0030155)|regulation of cell proliferation (GO:0042127)|regulation of cellular senescence (GO:2000772)|regulation of myosin-light-chain-phosphatase activity (GO:0035507)	cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|p53 binding (GO:0002039)|protein serine/threonine kinase activity (GO:0004674)	p.L185Q(2)		NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	37						GTCATCGAGCAGTATATTTTC	0.502																																						uc001tlj.1																			2	Substitution - Missense(2)		lung(2)	ovary(1)|central_nervous_system(1)	2						c.(553-555)CTG>CAG		AMPK-related protein kinase 5							134.0	114.0	121.0					12																	106477667		2203	4300	6503	SO:0001583	missense	9891						ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	g.chr12:106477667A>T	AB011109	CCDS31892.1	12q23.3	2005-08-09				ENSG00000074590			14311	protein-coding gene	gene with protein product	"""AMP-activated protein kinase family member 5"""	608130				12409306, 13679856	Standard	NM_014840		Approved	ARK5, KIAA0537, NuaK1	uc001tlj.1	O60285	OTTHUMG00000169763	ENST00000261402.2:c.554T>A	12.37:g.106477667A>T	ENSP00000261402:p.Leu185Gln						p.L185Q	NM_014840	NP_055655	O60285	NUAK1_HUMAN			4	1934	-			185			Protein kinase.		A7MD39|Q96KA8	Missense_Mutation	SNP	ENST00000261402.2	37	c.554T>A	CCDS31892.1	.	.	.	.	.	.	.	.	.	.	A	25.3	4.625850	0.87560	.	.	ENSG00000074590	ENST00000261402;ENST00000548902	T;T	0.58797	0.31;0.31	5.38	5.38	0.77491	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	0.41823	D	0.000807	D	0.85805	0.5782	H	0.99011	4.4	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.91678	0.5356	10	0.87932	D	0	.	15.4259	0.75051	1.0:0.0:0.0:0.0	.	185	O60285	NUAK1_HUMAN	Q	185;54	ENSP00000261402:L185Q;ENSP00000448288:L54Q	ENSP00000261402:L185Q	L	-	2	0	NUAK1	105001797	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.962000	0.93254	2.050000	0.60909	0.528000	0.53228	CTG		PASS	0.502	NUAK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405767.2	NM_014840		38	38	38	38	---	---	---	---
ASCL4	121549	broad.mit.edu	37	12	108169386	108169386	+	Nonsense_Mutation	SNP	C	C	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr12:108169386C>T	ENST00000342331.4	+	1	1225	c.394C>T	c.(394-396)Cag>Tag	p.Q132*		NM_203436.2	NP_982260.2	Q6XD76	ASCL4_HUMAN	achaete-scute family bHLH transcription factor 4	131					regulation of transcription from RNA polymerase II promoter (GO:0006357)|skin development (GO:0043588)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)	p.Q131*(1)		breast(2)|central_nervous_system(1)|large_intestine(3)|lung(6)|upper_aerodigestive_tract(1)	13						GCTGGAGCGCCAGGCCTGGGG	0.711																																					GBM(170;776 3695 11650)	uc001tmr.2																			1	Substitution - Nonsense(1)		lung(1)	central_nervous_system(1)	1						c.(394-396)CAG>TAG		achaete-scute complex-like 4							5.0	7.0	6.0					12																	108169386		2033	4049	6082	SO:0001587	stop_gained	121549				regulation of transcription from RNA polymerase II promoter|skin development|transcription, DNA-dependent	nucleus	DNA binding	g.chr12:108169386C>T	AY238895	CCDS31894.2	12q24.11	2013-10-17	2013-10-17		ENSG00000187855	ENSG00000187855		"""Basic helix-loop-helix proteins"""	24311	protein-coding gene	gene with protein product		609155	"""achaete-scute complex-like 4 (Drosophila)"", ""achaete-scute complex homolog 4 (Drosophila)"""				Standard	NM_203436		Approved	HASH4, bHLHa44	uc001tmr.3	Q6XD76	OTTHUMG00000156964	ENST00000342331.4:c.394C>T	12.37:g.108169386C>T	ENSP00000345420:p.Gln132*						p.Q132*	NM_203436	NP_982260	Q6XD76	ASCL4_HUMAN			1	1225	+			131					Q7RTS2	Nonsense_Mutation	SNP	ENST00000342331.4	37	c.394C>T	CCDS31894.2	.	.	.	.	.	.	.	.	.	.	C	42	9.596484	0.99214	.	.	ENSG00000187855	ENST00000342331	.	.	.	4.17	4.17	0.49024	.	0.782790	0.11380	U	0.569868	.	.	.	.	.	.	0.58432	D	0.999998	.	.	.	.	.	.	.	.	.	.	0.15066	T	0.55	-9.2862	12.7157	0.57113	0.0:0.8342:0.1658:0.0	.	.	.	.	X	132	.	ENSP00000345420:Q132X	Q	+	1	0	ASCL4	106693516	0.986000	0.35501	0.994000	0.49952	0.607000	0.37147	2.429000	0.44758	2.024000	0.59613	0.305000	0.20034	CAG		PASS	0.711	ASCL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346845.1	NM_203436		7	3	7	3	---	---	---	---
ANKRD13A	88455	broad.mit.edu	37	12	110450962	110450962	+	Nonsense_Mutation	SNP	G	G	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr12:110450962G>T	ENST00000261739.4	+	3	428	c.262G>T	c.(262-264)Gag>Tag	p.E88*	ANKRD13A_ENST00000550404.1_3'UTR	NM_033121.1	NP_149112.1	Q8IZ07	AN13A_HUMAN	ankyrin repeat domain 13A	88						endosome (GO:0005768)|plasma membrane (GO:0005886)		p.E88*(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(8)|lung(3)|urinary_tract(1)	16						TGGCGATCCTGAGATGGTGTA	0.433																																						uc001tpx.2																			1	Substitution - Nonsense(1)		lung(1)		0						c.(262-264)GAG>TAG		ankyrin repeat domain 13							117.0	97.0	104.0					12																	110450962		2203	4300	6503	SO:0001587	stop_gained	88455							g.chr12:110450962G>T	AF064604	CCDS9140.1	12q24.12	2013-01-10	2006-06-30	2006-06-30		ENSG00000076513		"""Ankyrin repeat domain containing"""	21268	protein-coding gene	gene with protein product		615123	"""ankyrin repeat domain 13"""	ANKRD13		10508479	Standard	NM_033121		Approved	NY-REN-25	uc001tpx.3	Q8IZ07	OTTHUMG00000169314	ENST00000261739.4:c.262G>T	12.37:g.110450962G>T	ENSP00000261739:p.Glu88*					ANKRD13A_uc009zvl.1_RNA|ANKRD13A_uc009zvm.1_Nonsense_Mutation_p.E88*|ANKRD13A_uc010sxw.1_Nonsense_Mutation_p.E88*	p.E88*	NM_033121	NP_149112	Q8IZ07	AN13A_HUMAN			3	521	+			88			ANK 2.		O60736	Nonsense_Mutation	SNP	ENST00000261739.4	37	c.262G>T	CCDS9140.1	.	.	.	.	.	.	.	.	.	.	G	37	6.563116	0.97667	.	.	ENSG00000076513	ENST00000261739	.	.	.	5.96	5.96	0.96718	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.46703	T	0.11	3.7228	19.4101	0.94667	0.0:0.0:1.0:0.0	.	.	.	.	X	88	.	ENSP00000261739:E88X	E	+	1	0	ANKRD13A	108935345	1.000000	0.71417	0.988000	0.46212	0.980000	0.70556	9.759000	0.98931	2.832000	0.97577	0.655000	0.94253	GAG		PASS	0.433	ANKRD13A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403430.1	NM_033121		53	39	53	39	---	---	---	---
HVCN1	84329	broad.mit.edu	37	12	111099059	111099059	+	Silent	SNP	A	A	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr12:111099059A>T	ENST00000356742.5	-	3	969	c.216T>A	c.(214-216)ccT>ccA	p.P72P	HVCN1_ENST00000548312.1_Silent_p.P72P|HVCN1_ENST00000439744.2_Silent_p.P52P|HVCN1_ENST00000242607.8_Silent_p.P72P			Q96D96	HVCN1_HUMAN	hydrogen voltage-gated channel 1	72					cellular response to pH (GO:0071467)|cellular response to zinc ion (GO:0071294)|multicellular organism reproduction (GO:0032504)|proton transport (GO:0015992)|response to pH (GO:0009268)|response to zinc ion (GO:0010043)|single fertilization (GO:0007338)|sperm-egg recognition (GO:0035036)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	voltage-gated cation channel activity (GO:0022843)|voltage-gated proton channel activity (GO:0030171)	p.P72P(1)		NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(6)|prostate(1)|skin(1)	19						GGGCAACGTCAGGGGCTGCAG	0.612																																						uc001trs.1																			1	Substitution - coding silent(1)		lung(1)	skin(1)	1						c.(214-216)CCT>CCA		hydrogen voltage-gated channel 1							53.0	59.0	57.0					12																	111099059		2203	4300	6503	SO:0001819	synonymous_variant	84329				response to pH|response to zinc ion	integral to membrane	voltage-gated proton channel activity	g.chr12:111099059A>T	BC007277	CCDS31900.1, CCDS58278.1	12q24.11	2011-12-09	2006-03-24	2006-03-24	ENSG00000122986	ENSG00000122986		"""Voltage-gated ion channels / Hydrogen voltage-gated channel"""	28240	protein-coding gene	gene with protein product	"""voltage sensor domain-only protein"""	611227				20961760, 16556803, 18356202, 22020278	Standard	NM_032369		Approved	MGC15619, Hv1, VSOP	uc001trs.2	Q96D96		ENST00000356742.5:c.216T>A	12.37:g.111099059A>T						HVCN1_uc001trq.1_Silent_p.P72P|HVCN1_uc001trt.1_Silent_p.P72P|HVCN1_uc010syd.1_Silent_p.P52P	p.P72P	NM_032369	NP_115745	Q96D96	HVCN1_HUMAN			4	381	-			72			Cytoplasmic (Potential).		A8MQ37|B4DEB3|F8WCH5|Q6UW11|Q96IS5	Silent	SNP	ENST00000356742.5	37	c.216T>A	CCDS31900.1																																																																																				PASS	0.612	HVCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404653.1	NM_032369		31	20	31	20	---	---	---	---
MYL2	4633	broad.mit.edu	37	12	111350900	111350900	+	Splice_Site	SNP	C	C	G			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr12:111350900C>G	ENST00000228841.8	-	6	449	c.402G>C	c.(400-402)gaG>gaC	p.E134D	MYL2_ENST00000548438.1_Splice_Site_p.E120D	NM_000432.3	NP_000423.2	P10916	MLRV_HUMAN	myosin, light chain 2, regulatory, cardiac, slow	134	EF-hand 3. {ECO:0000255|PROSITE- ProRule:PRU00448}.				cardiac muscle contraction (GO:0060048)|cardiac myofibril assembly (GO:0055003)|heart contraction (GO:0060047)|muscle cell fate specification (GO:0042694)|muscle fiber development (GO:0048747)|muscle filament sliding (GO:0030049)|negative regulation of cell growth (GO:0030308)|post-embryonic development (GO:0009791)|regulation of striated muscle contraction (GO:0006942)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|myofibril (GO:0030016)|myosin complex (GO:0016459)|sarcomere (GO:0030017)	actin monomer binding (GO:0003785)|calcium ion binding (GO:0005509)|myosin heavy chain binding (GO:0032036)|structural constituent of muscle (GO:0008307)	p.E134D(1)		endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)	12						ACCCCATTACCTCCTCCTTGG	0.587																																					GBM(14;268 426 18829 21617 25540)	uc001try.3																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(400-402)GAG>GAC		slow cardiac myosin regulatory light chain 2							104.0	105.0	104.0					12																	111350900		2203	4300	6503	SO:0001630	splice_region_variant	4633				cardiac myofibril assembly|heart contraction|muscle filament sliding|negative regulation of cell growth|regulation of striated muscle contraction|ventricular cardiac muscle tissue morphogenesis	cytosol|myosin complex|sarcomere	actin monomer binding|calcium ion binding|myosin heavy chain binding|structural constituent of muscle	g.chr12:111350900C>G		CCDS31901.1	12q24.11	2014-09-17	2006-09-29		ENSG00000111245	ENSG00000111245		"""Myosins / Light chain"", ""EF-hand domain containing"""	7583	protein-coding gene	gene with protein product	"""cardiac ventricular myosin light chain 2"""	160781	"""myosin, light polypeptide 2, regulatory, cardiac, slow"""			1386340	Standard	NM_000432		Approved	CMH10	uc001try.4	P10916	OTTHUMG00000169535	ENST00000228841.8:c.402+1G>C	12.37:g.111350900C>G						MYL2_uc001trx.3_Missense_Mutation_p.E115D	p.E134D	NM_000432	NP_000423	P10916	MLRV_HUMAN			6	473	-			134			EF-hand 3.		Q16123	Missense_Mutation	SNP	ENST00000228841.8	37	c.402G>C	CCDS31901.1	.	.	.	.	.	.	.	.	.	.	c	23.3	4.402873	0.83230	.	.	ENSG00000111245	ENST00000228841;ENST00000548438	D;D	0.81499	-1.5;-1.5	5.09	5.09	0.68999	EF-hand-like domain (1);	0.046511	0.85682	N	0.000000	D	0.83566	0.5282	M	0.82056	2.57	0.80722	D	1	P	0.35107	0.484	B	0.39339	0.297	D	0.83471	0.0059	9	.	.	.	.	17.2554	0.87055	0.0:1.0:0.0:0.0	.	134	P10916	MLRV_HUMAN	D	134;120	ENSP00000228841:E134D;ENSP00000447154:E120D	.	E	-	3	2	MYL2	109835283	1.000000	0.71417	1.000000	0.80357	0.922000	0.55478	7.119000	0.77145	2.365000	0.80145	0.651000	0.88453	GAG		PASS	0.587	MYL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404677.2	NM_000432	Missense_Mutation	59	67	59	67	---	---	---	---
CUX2	23316	broad.mit.edu	37	12	111744741	111744741	+	Missense_Mutation	SNP	C	C	G			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr12:111744741C>G	ENST00000261726.6	+	11	1029	c.875C>G	c.(874-876)aCt>aGt	p.T292S		NM_015267.3	NP_056082.2	O14529	CUX2_HUMAN	cut-like homeobox 2	292					cellular response to organic substance (GO:0071310)|cognition (GO:0050890)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of dendrite morphogenesis (GO:0050775)|positive regulation of dendritic spine morphogenesis (GO:0061003)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of gene expression (GO:0010628)|positive regulation of synapse assembly (GO:0051965)|short-term memory (GO:0007614)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|sequence-specific DNA binding (GO:0043565)	p.T292S(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(24)|ovary(5)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	55						GTGAACTTCACTCTGTGCTCG	0.642																																						uc001tsa.1																			1	Substitution - Missense(1)		lung(1)	ovary(3)|skin(2)|breast(1)	6						c.(874-876)ACT>AGT		cut-like 2							73.0	78.0	76.0					12																	111744741		1940	4127	6067	SO:0001583	missense	23316					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr12:111744741C>G	AB006631	CCDS41837.1	12q24.12	2011-06-20	2007-11-07	2007-11-07	ENSG00000111249	ENSG00000111249		"""Homeoboxes / CUT class"""	19347	protein-coding gene	gene with protein product		610648	"""cut-like 2 (Drosophila)"""	CUTL2			Standard	NM_015267		Approved	KIAA0293, CDP2	uc001tsa.2	O14529	OTTHUMG00000169546	ENST00000261726.6:c.875C>G	12.37:g.111744741C>G	ENSP00000261726:p.Thr292Ser						p.T292S	NM_015267	NP_056082	O14529	CUX2_HUMAN			11	1028	+			292			Potential.		A7E2Y4	Missense_Mutation	SNP	ENST00000261726.6	37	c.875C>G	CCDS41837.1	.	.	.	.	.	.	.	.	.	.	C	1.902	-0.452941	0.04540	.	.	ENSG00000111249	ENST00000261726	T	0.40225	1.04	5.32	5.32	0.75619	.	0.671525	0.15140	N	0.278332	T	0.19685	0.0473	N	0.01352	-0.895	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.05257	-1.0896	10	0.15499	T	0.54	-0.1495	18.5941	0.91224	0.0:1.0:0.0:0.0	.	292	O14529	CUX2_HUMAN	S	292	ENSP00000261726:T292S	ENSP00000261726:T292S	T	+	2	0	CUX2	110229124	0.095000	0.21747	0.006000	0.13384	0.207000	0.24258	3.852000	0.55934	2.492000	0.84095	0.655000	0.94253	ACT		PASS	0.642	CUX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404765.1	NM_015267		60	49	60	49	---	---	---	---
HECTD4	283450	broad.mit.edu	37	12	112743916	112743916	+	Missense_Mutation	SNP	C	C	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr12:112743916C>A	ENST00000430131.2	-	7	1250	c.105G>T	c.(103-105)gaG>gaT	p.E35D	HECTD4_ENST00000550722.1_Missense_Mutation_p.E285D|HECTD4_ENST00000377560.5_Missense_Mutation_p.E285D			Q9Y4D8	HECD4_HUMAN	HECT domain containing E3 ubiquitin protein ligase 4	35					glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)	p.E285D(1)|p.E35D(1)									TCGGTGTTTTCTCATTCAGGC	0.453																																						uc009zwc.2																			2	Substitution - Missense(2)		lung(2)	ovary(1)|lung(1)	2						c.(103-105)GAG>GAT		chromosome 12 open reading frame 51							82.0	84.0	84.0					12																	112743916		1961	4149	6110	SO:0001583	missense	283450							g.chr12:112743916C>A	AK091473		12q24.13	2013-07-17	2012-08-14	2012-08-14	ENSG00000173064	ENSG00000173064			26611	protein-coding gene	gene with protein product			"""chromosome 12 open reading frame 51"""	C12orf51		21270382	Standard	NM_001109662		Approved	FLJ34154, KIAA0614	uc021reb.1	Q9Y4D8	OTTHUMG00000150719	ENST00000430131.2:c.105G>T	12.37:g.112743916C>A	ENSP00000404379:p.Glu35Asp						p.E35D	NM_001109662	NP_001103132					1	123	-								L8B0P6|Q3MJD5|Q6P0A0|Q7L530|Q8NB70|Q8WU73|Q96NT9|Q9NZS4|Q9UFT6	Missense_Mutation	SNP	ENST00000430131.2	37	c.105G>T		.	.	.	.	.	.	.	.	.	.	C	13.34	2.206667	0.39003	.	.	ENSG00000173064	ENST00000377560;ENST00000430131;ENST00000550722	T;T;T	0.42513	0.99;1.06;0.97	5.29	3.07	0.35406	.	.	.	.	.	T	0.35998	0.0951	N	0.03608	-0.345	0.27589	N	0.94933	P	0.52842	0.956	P	0.62184	0.899	T	0.20672	-1.0268	9	0.72032	D	0.01	.	9.2934	0.37800	0.0:0.7311:0.0:0.2689	.	35	Q9Y4D8	K0614_HUMAN	D	285;35;285	ENSP00000366783:E285D;ENSP00000404379:E35D;ENSP00000449784:E285D	ENSP00000366783:E285D	E	-	3	2	C12orf51	111228299	1.000000	0.71417	1.000000	0.80357	0.950000	0.60333	0.884000	0.28214	1.374000	0.46228	0.460000	0.39030	GAG		PASS	0.453	HECTD4-202	KNOWN	basic	protein_coding	protein_coding		NM_173813		26	29	26	29	---	---	---	---
GCN1L1	10985	broad.mit.edu	37	12	120586073	120586073	+	Missense_Mutation	SNP	T	T	G			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr12:120586073T>G	ENST00000300648.6	-	37	4636	c.4624A>C	c.(4624-4626)Aag>Cag	p.K1542Q		NM_006836.1	NP_006827	Q92616	GCN1L_HUMAN	GCN1 general control of amino-acid synthesis 1-like 1 (yeast)	1542					regulation of translation (GO:0006417)|translation (GO:0006412)	cytoplasm (GO:0005737)|membrane (GO:0016020)|ribosome (GO:0005840)	poly(A) RNA binding (GO:0044822)|translation factor activity, nucleic acid binding (GO:0008135)	p.K1542Q(1)		NS(2)|breast(2)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(13)|liver(1)|lung(36)|ovary(4)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	94	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					TCCGTAAGCTTGGGCACAATG	0.572																																						uc001txo.2																			1	Substitution - Missense(1)		lung(1)	ovary(4)	4						c.(4624-4626)AAG>CAG		GCN1 general control of amino-acid synthesis							84.0	90.0	88.0					12																	120586073		2090	4216	6306	SO:0001583	missense	10985				regulation of translation	ribosome	protein binding|translation factor activity, nucleic acid binding	g.chr12:120586073T>G	U77700	CCDS41847.1	12q24.2	2008-07-03	2001-11-28						4199	protein-coding gene	gene with protein product		605614	"""GCN1 (general control of amino-acid synthesis 1, yeast)-like 1"""			9234705	Standard	NM_006836		Approved	KIAA0219, GCN1, GCN1L	uc001txo.3	Q92616	OTTHUMG00000169338	ENST00000300648.6:c.4624A>C	12.37:g.120586073T>G	ENSP00000300648:p.Lys1542Gln						p.K1542Q	NM_006836	NP_006827	Q92616	GCN1L_HUMAN			37	4637	-	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)		1542			HEAT 9.		A8KAY1|O95001|O95651|Q6P2S3|Q86X65|Q8N5I5|Q8WU80|Q99736|Q9UE60	Missense_Mutation	SNP	ENST00000300648.6	37	c.4624A>C	CCDS41847.1	.	.	.	.	.	.	.	.	.	.	T	19.35	3.809836	0.70797	.	.	ENSG00000089154	ENST00000300648	T	0.64438	-0.1	5.19	5.19	0.71726	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.76608	0.4011	M	0.67953	2.075	0.80722	D	1	D	0.89917	1.0	D	0.74348	0.983	T	0.78107	-0.2333	10	0.51188	T	0.08	.	15.0421	0.71799	0.0:0.0:0.0:1.0	.	1542	Q92616	GCN1L_HUMAN	Q	1542	ENSP00000300648:K1542Q	ENSP00000300648:K1542Q	K	-	1	0	GCN1L1	119070456	1.000000	0.71417	1.000000	0.80357	0.391000	0.30476	7.798000	0.85924	1.971000	0.57363	0.260000	0.18958	AAG		PASS	0.572	GCN1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403592.1			45	68	45	68	---	---	---	---
DNAH10	196385	broad.mit.edu	37	12	124311314	124311314	+	Silent	SNP	C	C	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr12:124311314C>T	ENST00000409039.3	+	24	3931	c.3906C>T	c.(3904-3906)ctC>ctT	p.L1302L		NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	1302	Stem. {ECO:0000250}.				microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.L1302L(1)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		AAGGTTTTCTCAGGGCTCTCA	0.458																																						uc001uft.3																			1	Substitution - coding silent(1)		lung(1)	ovary(3)|skin(2)|central_nervous_system(1)	6						c.(3904-3906)CTC>CTT		dynein, axonemal, heavy chain 10							142.0	137.0	138.0					12																	124311314		1884	4110	5994	SO:0001819	synonymous_variant	196385				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr12:124311314C>T	AJ132089	CCDS9255.2	12q24	2008-02-05	2006-09-04		ENSG00000197653	ENSG00000197653		"""Axonemal dyneins"""	2941	protein-coding gene	gene with protein product		605884	"""dynein, axonemal, heavy polypeptide 10"""				Standard	NM_207437		Approved	FLJ43808	uc001uft.4	Q8IVF4	OTTHUMG00000154477	ENST00000409039.3:c.3906C>T	12.37:g.124311314C>T							p.L1302L	NM_207437	NP_997320	Q8IVF4	DYH10_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)	24	3931	+	all_neural(191;0.101)|Medulloblastoma(191;0.163)		1302			Stem (By similarity).		C9JMF5|O95495|Q6ZUC9|Q6ZUP6|Q8N761	Silent	SNP	ENST00000409039.3	37	c.3906C>T	CCDS9255.2																																																																																				PASS	0.458	DNAH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335420.3			66	60	66	60	---	---	---	---
DNAH10	196385	broad.mit.edu	37	12	124352552	124352552	+	Nonsense_Mutation	SNP	G	G	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr12:124352552G>T	ENST00000409039.3	+	42	7076	c.7051G>T	c.(7051-7053)Gga>Tga	p.G2351*		NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	2351					microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.G2351*(1)|p.G943*(1)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		CTGCTCTCTGGGAGCCTCCCT	0.483																																						uc001uft.3																			2	Substitution - Nonsense(2)		lung(2)	ovary(3)|skin(2)|central_nervous_system(1)	6						c.(7051-7053)GGA>TGA		dynein, axonemal, heavy chain 10							76.0	78.0	77.0					12																	124352552		1925	4120	6045	SO:0001587	stop_gained	196385				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr12:124352552G>T	AJ132089	CCDS9255.2	12q24	2008-02-05	2006-09-04		ENSG00000197653	ENSG00000197653		"""Axonemal dyneins"""	2941	protein-coding gene	gene with protein product		605884	"""dynein, axonemal, heavy polypeptide 10"""				Standard	NM_207437		Approved	FLJ43808	uc001uft.4	Q8IVF4	OTTHUMG00000154477	ENST00000409039.3:c.7051G>T	12.37:g.124352552G>T	ENSP00000386770:p.Gly2351*						p.G2351*	NM_207437	NP_997320	Q8IVF4	DYH10_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)	42	7076	+	all_neural(191;0.101)|Medulloblastoma(191;0.163)		2351					C9JMF5|O95495|Q6ZUC9|Q6ZUP6|Q8N761	Nonsense_Mutation	SNP	ENST00000409039.3	37	c.7051G>T	CCDS9255.2	.	.	.	.	.	.	.	.	.	.	G	48	14.468522	0.99797	.	.	ENSG00000197653	ENST00000409039	.	.	.	5.34	5.34	0.76211	.	0.000000	0.64402	U	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	19.0351	0.92974	0.0:0.0:1.0:0.0	.	.	.	.	X	2351	.	ENSP00000386770:G2351X	G	+	1	0	DNAH10	122918505	1.000000	0.71417	0.993000	0.49108	0.704000	0.40688	9.776000	0.99001	2.495000	0.84180	0.467000	0.42956	GGA		PASS	0.483	DNAH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335420.3			30	18	30	18	---	---	---	---
TMEM132B	114795	broad.mit.edu	37	12	125900111	125900111	+	Missense_Mutation	SNP	G	G	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr12:125900111G>T	ENST00000299308.3	+	3	987	c.979G>T	c.(979-981)Gtg>Ttg	p.V327L		NM_052907.2	NP_443139.2	Q14DG7	T132B_HUMAN	transmembrane protein 132B	327						integral component of membrane (GO:0016021)		p.V327L(1)		NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(45)|ovary(5)|pancreas(1)|prostate(4)|skin(15)|upper_aerodigestive_tract(3)|urinary_tract(1)	107	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362)		GATAACGGCAGTGAGAGTCAG	0.478																																						uc001uhe.1																			1	Substitution - Missense(1)		lung(1)	skin(11)|ovary(5)|large_intestine(1)|pancreas(1)|breast(1)	19						c.(979-981)GTG>TTG		transmembrane protein 132B							75.0	90.0	85.0					12																	125900111		2168	4272	6440	SO:0001583	missense	114795					integral to membrane		g.chr12:125900111G>T	AB067493	CCDS41859.1, CCDS66501.1	12q24.31	2006-03-02							29397	protein-coding gene	gene with protein product						11572484	Standard	NM_001286219		Approved	KIAA1906, KIAA1786	uc001uhe.1	Q14DG7		ENST00000299308.3:c.979G>T	12.37:g.125900111G>T	ENSP00000299308:p.Val327Leu						p.V327L	NM_052907	NP_443139	Q14DG7	T132B_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362)	3	987	+	all_neural(191;0.101)|Medulloblastoma(191;0.163)		327			Extracellular (Potential).		A2RRG8|Q8NA73|Q96JN9|Q96PY1	Missense_Mutation	SNP	ENST00000299308.3	37	c.979G>T	CCDS41859.1	.	.	.	.	.	.	.	.	.	.	G	7.914	0.737069	0.15574	.	.	ENSG00000139364	ENST00000299308	T	0.13657	2.57	5.63	4.73	0.59995	.	.	.	.	.	T	0.11367	0.0277	L	0.39898	1.24	0.80722	D	1	B	0.19583	0.037	B	0.19148	0.024	T	0.08722	-1.0708	9	0.41790	T	0.15	.	7.2514	0.26152	0.1233:0.0:0.726:0.1507	.	327	Q14DG7	T132B_HUMAN	L	327	ENSP00000299308:V327L	ENSP00000299308:V327L	V	+	1	0	TMEM132B	124466064	0.995000	0.38212	0.544000	0.28141	0.083000	0.17756	2.790000	0.47821	1.369000	0.46134	0.655000	0.94253	GTG		PASS	0.478	TMEM132B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000400043.1	NM_052907		77	74	77	74	---	---	---	---
TPTE2	93492	broad.mit.edu	37	13	20025324	20025324	+	Silent	SNP	A	A	G			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr13:20025324A>G	ENST00000400230.2	-	11	827	c.783T>C	c.(781-783)taT>taC	p.Y261Y	TPTE2_ENST00000382978.1_Silent_p.Y221Y|TPTE2_ENST00000400103.2_Silent_p.Y150Y|TPTE2_ENST00000255310.6_Silent_p.Y184Y|TPTE2_ENST00000382975.4_Silent_p.Y221Y|TPTE2_ENST00000390680.2_Silent_p.Y184Y|TPTE2_ENST00000382977.4_Silent_p.Y261Y|TPTE2_ENST00000457266.2_Silent_p.Y150Y			Q6XPS3	TPTE2_HUMAN	transmembrane phosphoinositide 3-phosphatase and tensin homolog 2	261	Phosphatase tensin-type. {ECO:0000255|PROSITE-ProRule:PRU00590}.				phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	ion channel activity (GO:0005216)|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity (GO:0016314)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.Y184Y(1)|p.Y261Y(1)		NS(2)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(8)|lung(21)|pancreas(1)|prostate(8)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		all_cancers(29;1.23e-20)|all_lung(29;1.97e-20)|all_epithelial(30;5.86e-20)|Lung NSC(5;3.36e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;1.73e-05)|Epithelial(112;7.42e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000785)|Lung(94;0.0176)|LUSC - Lung squamous cell carcinoma(192;0.089)		TGTAGACTCGATAGTGGTTTC	0.338																																						uc001umd.2																			2	Substitution - coding silent(2)		lung(2)		0						c.(781-783)TAT>TAC		TPTE and PTEN homologous inositol lipid							133.0	118.0	123.0					13																	20025324		2203	4299	6502	SO:0001819	synonymous_variant	93492					endoplasmic reticulum membrane|integral to membrane	ion channel activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr13:20025324A>G	AJ421032	CCDS9285.1, CCDS45013.1, CCDS45014.1	13q12.11	2012-12-10			ENSG00000132958	ENSG00000132958		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"""	17299	protein-coding gene	gene with protein product		606791				11716755, 12717346, 15057823	Standard	NM_130785		Approved	TPIP	uc001umd.3	Q6XPS3	OTTHUMG00000016493	ENST00000400230.2:c.783T>C	13.37:g.20025324A>G						TPTE2_uc009zzk.2_RNA|TPTE2_uc009zzl.2_Silent_p.Y150Y|TPTE2_uc001ume.2_Silent_p.Y184Y|TPTE2_uc009zzm.2_Intron|TPTE2_uc010tcm.1_RNA	p.Y261Y	NM_199254	NP_954863	Q6XPS3	TPTE2_HUMAN		all cancers(112;1.73e-05)|Epithelial(112;7.42e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000785)|Lung(94;0.0176)|LUSC - Lung squamous cell carcinoma(192;0.089)	12	994	-		all_cancers(29;1.23e-20)|all_lung(29;1.97e-20)|all_epithelial(30;5.86e-20)|Lung NSC(5;3.36e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)	261			Phosphatase tensin-type.		A1A4X0|A1A4X1|A8MX64|B1AQ16|B4DWZ2|Q5VUH2|Q8WWL4|Q8WWL5	Silent	SNP	ENST00000400230.2	37	c.783T>C	CCDS45014.1																																																																																				PASS	0.338	TPTE2-205	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_199254		55	49	55	49	---	---	---	---
SACS	26278	broad.mit.edu	37	13	23915357	23915357	+	Missense_Mutation	SNP	C	C	G			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr13:23915357C>G	ENST00000382292.3	-	9	2931	c.2658G>C	c.(2656-2658)caG>caC	p.Q886H	SACS_ENST00000402364.1_Missense_Mutation_p.Q136H|SACS_ENST00000382298.3_Missense_Mutation_p.Q886H			Q9NZJ4	SACS_HUMAN	sacsin molecular chaperone	886					cell death (GO:0008219)|negative regulation of inclusion body assembly (GO:0090084)|protein folding (GO:0006457)	axon (GO:0030424)|cell body fiber (GO:0070852)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	chaperone binding (GO:0051087)|Hsp70 protein binding (GO:0030544)|proteasome binding (GO:0070628)	p.Q739H(1)|p.Q886H(1)		NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		TACACAATTTCTGCAATGGCA	0.353																																						uc001uon.2																			2	Substitution - Missense(2)		lung(2)	ovary(7)|skin(2)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1)	12						c.(2656-2658)CAG>CAC		sacsin							123.0	125.0	124.0					13																	23915357		2203	4300	6503	SO:0001583	missense	26278				cell death|negative regulation of inclusion body assembly|protein folding	axon|cell body fiber|dendrite|mitochondrion|nucleus	ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding	g.chr13:23915357C>G	AF193556	CCDS9300.2	13q11	2014-06-13	2014-01-30		ENSG00000151835	ENSG00000151835		"""Heat shock proteins / DNAJ (HSP40)"""	10519	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 138"""	604490	"""spastic ataxia of Charlevoix-Saguenay (sacsin)"""			10610707, 15057823, 21726565	Standard	NM_001278055		Approved	ARSACS, KIAA0730, DKFZp686B15167, DNAJC29, SPAX6, PPP1R138	uc001uon.3	Q9NZJ4	OTTHUMG00000016562	ENST00000382292.3:c.2658G>C	13.37:g.23915357C>G	ENSP00000371729:p.Gln886His					SACS_uc001uoo.2_Missense_Mutation_p.Q739H|SACS_uc001uop.1_Intron|SACS_uc001uoq.1_Intron	p.Q886H	NM_014363	NP_055178	Q9NZJ4	SACS_HUMAN		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)	10	3247	-		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)	886					O94835|Q5T9J5|Q5T9J7|Q5T9J8|Q68DF5|Q6MZR4|Q8NBF9	Missense_Mutation	SNP	ENST00000382292.3	37	c.2658G>C	CCDS9300.2	.	.	.	.	.	.	.	.	.	.	C	17.15	3.315958	0.60524	.	.	ENSG00000151835	ENST00000382292;ENST00000402364;ENST00000382298	D;D;D	0.88896	-2.29;-2.44;-2.29	6.05	4.35	0.52113	.	0.058418	0.64402	D	0.000001	T	0.81800	0.4899	L	0.34521	1.04	0.36528	D	0.870562	P	0.38455	0.632	B	0.35859	0.212	T	0.82133	-0.0608	10	0.42905	T	0.14	.	10.3295	0.43814	0.0:0.8008:0.0:0.1992	.	886	Q9NZJ4	SACS_HUMAN	H	886;136;886	ENSP00000371729:Q886H;ENSP00000385844:Q136H;ENSP00000371735:Q886H	ENSP00000371729:Q886H	Q	-	3	2	SACS	22813357	0.998000	0.40836	1.000000	0.80357	0.949000	0.60115	0.646000	0.24797	0.918000	0.36919	-0.127000	0.14921	CAG		PASS	0.353	SACS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044148.3	NM_014363		48	117	48	117	---	---	---	---
ATP12A	479	broad.mit.edu	37	13	25275055	25275055	+	Missense_Mutation	SNP	A	A	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr13:25275055A>T	ENST00000381946.3	+	13	2043	c.1876A>T	c.(1876-1878)Atc>Ttc	p.I626F	RNY1P7_ENST00000384743.1_RNA|ATP12A_ENST00000218548.6_Missense_Mutation_p.I632F			P54707	AT12A_HUMAN	ATPase, H+/K+ transporting, nongastric, alpha polypeptide	626					ATP biosynthetic process (GO:0006754)|ion transmembrane transport (GO:0034220)|potassium ion homeostasis (GO:0055075)|regulation of pH (GO:0006885)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|hydrogen:potassium-exchanging ATPase complex (GO:0005889)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|hydrogen:potassium-exchanging ATPase activity (GO:0008900)|metal ion binding (GO:0046872)	p.I626F(1)		breast(6)|central_nervous_system(4)|endometrium(3)|kidney(5)|large_intestine(23)|lung(23)|ovary(2)|pancreas(1)|prostate(2)|skin(5)	74		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0307)|Epithelial(112;0.086)|OV - Ovarian serous cystadenocarcinoma(117;0.228)		GAGTGCAGGGATCAAGGTGGG	0.468																																					Pancreas(156;1582 1935 18898 22665 26498)	uc001upp.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|central_nervous_system(2)|large_intestine(1)|breast(1)	6						c.(1876-1878)ATC>TTC		hydrogen/potassium-exchanging ATPase 12A	Esomeprazole(DB00736)|Pantoprazole(DB00213)						103.0	93.0	97.0					13																	25275055		2203	4300	6503	SO:0001583	missense	479				ATP biosynthetic process	hydrogen:potassium-exchanging ATPase complex	ATP binding|hydrogen:potassium-exchanging ATPase activity|metal ion binding	g.chr13:25275055A>T	L42558	CCDS31948.1, CCDS53858.1	13q11-q12.1	2010-04-20	2002-02-25		ENSG00000075673	ENSG00000075673	3.6.3.10	"""ATPases / P-type"""	13816	protein-coding gene	gene with protein product	"""ATPase, Na+K+ transporting, alpha-1 polypeptide-like"", ""potassium-transporting ATPase alpha chain 2"", ""proton pump"", ""non-gastric H(+)/K(+) ATPase alpha subunit"", ""sodium/potassium ATPase, alpha polypeptide-like"""	182360	"""ATPase, Na+/K+ transporting, alpha polypeptide-like 1"""	ATP1AL1		8838794, 2842249	Standard	NM_001676		Approved		uc010aaa.3	P54707	OTTHUMG00000016588	ENST00000381946.3:c.1876A>T	13.37:g.25275055A>T	ENSP00000371372:p.Ile626Phe					ATP12A_uc010aaa.2_Missense_Mutation_p.I632F	p.I626F	NM_001676	NP_001667	P54707	AT12A_HUMAN		all cancers(112;0.0307)|Epithelial(112;0.086)|OV - Ovarian serous cystadenocarcinoma(117;0.228)	13	2063	+		Lung SC(185;0.0225)|Breast(139;0.077)	626			Cytoplasmic (Potential).		Q13816|Q13817|Q16734|Q5W035|Q8N5U2	Missense_Mutation	SNP	ENST00000381946.3	37	c.1876A>T	CCDS31948.1	.	.	.	.	.	.	.	.	.	.	A	18.53	3.644867	0.67358	.	.	ENSG00000075673	ENST00000218548;ENST00000381946	D;D	0.97352	-4.35;-4.35	6.17	6.17	0.99709	Haloacid dehalogenase-like hydrolase (1);HAD-like domain (1);ATPase, P-type,  transmembrane domain (1);	0.000000	0.85682	D	0.000000	D	0.99205	0.9724	H	0.99117	4.435	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	D	0.98745	1.0718	10	0.87932	D	0	.	14.7743	0.69713	1.0:0.0:0.0:0.0	.	632;626	P54707-2;P54707	.;AT12A_HUMAN	F	632;626	ENSP00000218548:I632F;ENSP00000371372:I626F	ENSP00000218548:I632F	I	+	1	0	ATP12A	24173055	1.000000	0.71417	0.988000	0.46212	0.065000	0.16274	9.228000	0.95250	2.371000	0.80710	0.533000	0.62120	ATC		PASS	0.468	ATP12A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044199.1	NM_001676		56	47	56	47	---	---	---	---
ATP8A2	51761	broad.mit.edu	37	13	26153025	26153025	+	Missense_Mutation	SNP	T	T	G			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr13:26153025T>G	ENST00000381655.2	+	21	1997	c.1855T>G	c.(1855-1857)Ttt>Gtt	p.F619V	ATP8A2_ENST00000255283.8_Missense_Mutation_p.F579V|ATP8A2_ENST00000491840.1_3'UTR	NM_016529.4	NP_057613.4	Q9NTI2	AT8A2_HUMAN	ATPase, aminophospholipid transporter, class I, type 8A, member 2	579					aging (GO:0007568)|axonogenesis (GO:0007409)|detection of light stimulus involved in visual perception (GO:0050908)|eating behavior (GO:0042755)|inner ear morphogenesis (GO:0042472)|involuntary skeletal muscle contraction (GO:0003011)|negative regulation of cell proliferation (GO:0008285)|neurofilament cytoskeleton organization (GO:0060052)|neuromuscular process controlling posture (GO:0050884)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of neuron projection development (GO:0010976)|positive regulation of phospholipid translocation (GO:0061092)|response to auditory stimulus (GO:0010996)|retina layer formation (GO:0010842)|skin development (GO:0043588)	cell projection (GO:0042995)|endosome (GO:0005768)|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.F619V(1)		breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(17)|lung(31)|ovary(4)|skin(3)|stomach(1)|urinary_tract(1)	72		Breast(139;0.0201)|Lung SC(185;0.0225)		all cancers(112;0.043)|OV - Ovarian serous cystadenocarcinoma(117;0.0748)|Epithelial(112;0.079)		TCTGGAATACTTTGCCACGGA	0.388																																						uc001uqk.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|large_intestine(1)|skin(1)	4						c.(1855-1857)TTT>GTT		ATPase, aminophospholipid transporter-like,							130.0	128.0	128.0					13																	26153025		1912	4127	6039	SO:0001583	missense	51761				ATP biosynthetic process|negative regulation of cell proliferation	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr13:26153025T>G	AL137256	CCDS41873.1	13q12	2010-04-20	2010-03-31		ENSG00000132932	ENSG00000132932	3.6.3.1	"""ATPases / P-type"""	13533	protein-coding gene	gene with protein product		605870	"""ATPase, aminophospholipid transporter-like, Class I, type 8A, member 2"", ""ATPase, aminophospholipid transporter-like, class I, type 8A, member 2"""			11015572, 19778899	Standard	NM_016529		Approved	ATPIB, ML-1	uc001uqk.3	Q9NTI2	OTTHUMG00000016611	ENST00000381655.2:c.1855T>G	13.37:g.26153025T>G	ENSP00000371070:p.Phe619Val					ATP8A2_uc010tdi.1_Missense_Mutation_p.F579V|ATP8A2_uc010tdj.1_RNA|ATP8A2_uc010aaj.1_Missense_Mutation_p.F129V	p.F619V	NM_016529	NP_057613	Q9NTI2	AT8A2_HUMAN		all cancers(112;0.043)|OV - Ovarian serous cystadenocarcinoma(117;0.0748)|Epithelial(112;0.079)	21	1997	+		Breast(139;0.0201)|Lung SC(185;0.0225)	579			Cytoplasmic (Potential).		Q9H527|Q9NPU6|Q9NTL2|Q9NYM3	Missense_Mutation	SNP	ENST00000381655.2	37	c.1855T>G	CCDS41873.1	.	.	.	.	.	.	.	.	.	.	T	24.0	4.486360	0.84854	.	.	ENSG00000132932	ENST00000381655;ENST00000255283;ENST00000544544	T;T	0.68025	-0.3;-0.3	5.61	5.61	0.85477	ATPase, cation-transporting, domain N (1);HAD-like domain (1);ATPase, P-type, cytoplasmic domain N (1);	0.000000	0.85682	D	0.000000	D	0.88826	0.6542	H	0.98276	4.19	0.80722	D	1	D;D;D	0.63046	0.983;0.992;0.983	D;D;D	0.70487	0.938;0.969;0.938	D	0.93099	0.6507	10	0.87932	D	0	.	16.1054	0.81216	0.0:0.0:0.0:1.0	.	579;399;579	B7Z880;F5GZN5;Q9NTI2	.;.;AT8A2_HUMAN	V	619;579;399	ENSP00000371070:F619V;ENSP00000255283:F579V	ENSP00000255283:F579V	F	+	1	0	ATP8A2	25051025	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.603000	0.82811	2.266000	0.75297	0.533000	0.62120	TTT		PASS	0.388	ATP8A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044236.2	NM_016529		16	46	16	46	---	---	---	---
MTUS2	23281	broad.mit.edu	37	13	29608120	29608120	+	Silent	SNP	C	C	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr13:29608120C>A	ENST00000431530.3	+	2	2392	c.2334C>A	c.(2332-2334)ccC>ccA	p.P778P		NM_001033602.2	NP_001028774.2	Q5JR59	MTUS2_HUMAN	microtubule associated tumor suppressor candidate 2	768	Mediates interaction with MAPRE1.					cytoplasm (GO:0005737)|microtubule (GO:0005874)	microtubule binding (GO:0008017)|protein homodimerization activity (GO:0042803)	p.P778P(1)		NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|prostate(1)|skin(1)	20						TCCTTAAGCCCCAGCTAGGAT	0.507																																						uc001usl.3																			1	Substitution - coding silent(1)		lung(1)		0						c.(2332-2334)CCC>CCA		hypothetical protein LOC23281 isoform a							88.0	85.0	86.0					13																	29608120		2002	4184	6186	SO:0001819	synonymous_variant	23281					cytoplasm|microtubule	microtubule binding|protein homodimerization activity	g.chr13:29608120C>A	AB018317	CCDS41874.1, CCDS45022.1	13q12.3	2013-01-17	2009-10-20	2009-10-20	ENSG00000132938	ENSG00000132938			20595	protein-coding gene	gene with protein product	"""+TIP of 150 kDa"", ""cardiac zipper protein"""		"""KIAA0774"""	KIAA0774		19543227	Standard	NM_001033602		Approved	TIP150, CAZIP, ICIS	uc001usl.4	Q5JR59	OTTHUMG00000016657	ENST00000431530.3:c.2334C>A	13.37:g.29608120C>A							p.P778P	NM_001033602	NP_001028774	Q5JR59	MTUS2_HUMAN			2	2392	+			768			Mediates interaction with MAPRE1.		A7E292|B4DF81|O94872|Q08E97|Q5JQR3|Q8N5E2	Silent	SNP	ENST00000431530.3	37	c.2334C>A	CCDS45022.1																																																																																				PASS	0.507	MTUS2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000044336.3	XM_166270		22	21	22	21	---	---	---	---
RXFP2	122042	broad.mit.edu	37	13	32367141	32367141	+	Missense_Mutation	SNP	G	G	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr13:32367141G>T	ENST00000298386.2	+	16	1773	c.1702G>T	c.(1702-1704)Ggg>Tgg	p.G568W	RXFP2_ENST00000380314.1_Missense_Mutation_p.G544W	NM_130806.3	NP_570718.1	Q8WXD0	RXFP2_HUMAN	relaxin/insulin-like family peptide receptor 2	568					adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|male gonad development (GO:0008584)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|oocyte maturation (GO:0001556)|positive regulation of cAMP biosynthetic process (GO:0030819)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	peptide hormone binding (GO:0017046)|protein-hormone receptor activity (GO:0016500)	p.G568W(1)		cervix(1)|endometrium(2)|large_intestine(15)|lung(13)|prostate(1)|stomach(1)	33		Lung SC(185;0.0262)		all cancers(112;0.000559)|Epithelial(112;0.0017)|OV - Ovarian serous cystadenocarcinoma(117;0.0145)|BRCA - Breast invasive adenocarcinoma(63;0.0535)		AAACTTTTATGGGAAAAATGG	0.338																																						uc001utt.2																			1	Substitution - Missense(1)		lung(1)		0						c.(1702-1704)GGG>TGG		relaxin/insulin-like family peptide receptor 2							44.0	48.0	47.0					13																	32367141		2203	4300	6503	SO:0001583	missense	122042					integral to membrane|plasma membrane		g.chr13:32367141G>T	AF403384	CCDS9342.1, CCDS53862.1	13q12.3	2012-08-08	2006-05-09	2006-05-09	ENSG00000133105	ENSG00000133105		"""GPCR / Class A : Relaxin family peptide receptors"""	17318	protein-coding gene	gene with protein product		606655	"""leucine-rich repeat-containing G protein-coupled receptor 8"""	LGR8		12217959, 12970298, 15956688, 16507880	Standard	NM_130806		Approved	GREAT, GPR106, INSL3R, RXFPR2	uc001utt.3	Q8WXD0	OTTHUMG00000016690	ENST00000298386.2:c.1702G>T	13.37:g.32367141G>T	ENSP00000298386:p.Gly568Trp					RXFP2_uc010aba.2_Missense_Mutation_p.G527W	p.G568W	NM_130806	NP_570718	Q8WXD0	RXFP2_HUMAN		all cancers(112;0.000559)|Epithelial(112;0.0017)|OV - Ovarian serous cystadenocarcinoma(117;0.0145)|BRCA - Breast invasive adenocarcinoma(63;0.0535)	16	1773	+		Lung SC(185;0.0262)	568			Extracellular (Potential).		B1ALE9|Q3KU23	Missense_Mutation	SNP	ENST00000298386.2	37	c.1702G>T	CCDS9342.1	.	.	.	.	.	.	.	.	.	.	G	23.8	4.460729	0.84317	.	.	ENSG00000133105	ENST00000380314;ENST00000298386	T;T	0.38722	1.12;1.12	5.73	5.73	0.89815	GPCR, rhodopsin-like superfamily (1);	0.050219	0.85682	D	0.000000	T	0.71995	0.3406	M	0.90759	3.145	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.77593	-0.2530	10	0.87932	D	0	.	17.4071	0.87476	0.0:0.0:1.0:0.0	.	544;568	Q3KU23;Q8WXD0	.;RXFP2_HUMAN	W	544;568	ENSP00000369670:G544W;ENSP00000298386:G568W	ENSP00000298386:G568W	G	+	1	0	RXFP2	31265141	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.625000	0.98406	2.721000	0.93114	0.655000	0.94253	GGG		PASS	0.338	RXFP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000044399.1	NM_130806		43	41	43	41	---	---	---	---
VWA8	23078	broad.mit.edu	37	13	42161739	42161739	+	Missense_Mutation	SNP	C	C	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr13:42161739C>A	ENST00000379310.3	-	42	5248	c.5180G>T	c.(5179-5181)cGt>cTt	p.R1727L		NM_015058.1	NP_055873.1	A3KMH1	VWA8_HUMAN	von Willebrand factor A domain containing 8	1727	VWFA. {ECO:0000255|PROSITE- ProRule:PRU00219}.					extracellular region (GO:0005576)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)	p.R1727L(1)									CCTGTTGAAACGGTACATGCT	0.517																																						uc001uyj.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|upper_aerodigestive_tract(1)|kidney(1)|skin(1)	6						c.(5179-5181)CGT>CTT		hypothetical protein LOC23078 isoform a							105.0	104.0	105.0					13																	42161739		2057	4202	6259	SO:0001583	missense	23078					extracellular region	ATP binding|ATPase activity	g.chr13:42161739C>A	AB011136	CCDS31963.1, CCDS41881.1	13q14.11	2013-11-18	2012-08-02	2012-08-02	ENSG00000102763	ENSG00000102763			29071	protein-coding gene	gene with protein product			"""KIAA0564"""	KIAA0564		9628581	Standard	NM_015058		Approved		uc001uyj.3	A3KMH1	OTTHUMG00000016799	ENST00000379310.3:c.5180G>T	13.37:g.42161739C>A	ENSP00000368612:p.Arg1727Leu						p.R1727L	NM_015058	NP_055873	A3KMH1	K0564_HUMAN		OV - Ovarian serous cystadenocarcinoma(117;0.000368)|GBM - Glioblastoma multiforme(144;0.0033)|BRCA - Breast invasive adenocarcinoma(63;0.0969)	42	5250	-		Lung NSC(96;4.61e-06)|Prostate(109;0.0167)|Lung SC(185;0.0262)|Breast(139;0.0854)|Hepatocellular(98;0.114)	1727			VWFA.		O60310|Q5JTP6|Q5VW08|Q7Z6I9|Q86YC9|Q8N3E4	Missense_Mutation	SNP	ENST00000379310.3	37	c.5180G>T	CCDS41881.1	.	.	.	.	.	.	.	.	.	.	C	26.3	4.727330	0.89390	.	.	ENSG00000102763	ENST00000251030;ENST00000379310	T	0.13657	2.57	5.65	4.81	0.61882	von Willebrand factor, type A (3);	0.052827	0.85682	D	0.000000	T	0.46347	0.1388	M	0.91249	3.19	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.59721	-0.7401	10	0.87932	D	0	.	14.8567	0.70344	0.0:0.9309:0.0:0.0691	.	1727	A3KMH1	K0564_HUMAN	L	1631;1727	ENSP00000368612:R1727L	ENSP00000251030:R1631L	R	-	2	0	KIAA0564	41059739	1.000000	0.71417	1.000000	0.80357	0.716000	0.41182	5.608000	0.67654	1.523000	0.49018	0.655000	0.94253	CGT		PASS	0.517	VWA8-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354828.2	NM_015058		49	40	49	40	---	---	---	---
ZC3H13	23091	broad.mit.edu	37	13	46563198	46563198	+	Missense_Mutation	SNP	T	T	C			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr13:46563198T>C	ENST00000242848.4	-	9	1327	c.979A>G	c.(979-981)Ata>Gta	p.I327V	ZC3H13_ENST00000282007.3_Missense_Mutation_p.I327V			Q5T200	ZC3HD_HUMAN	zinc finger CCCH-type containing 13	327	Ser-rich.						metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)	p.I327V(1)		cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|lung(25)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	79		Lung NSC(96;7.26e-05)|Breast(56;0.000118)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;4.18e-05)		CTAGAAGATATAGGAGAATGA	0.388																																					Esophageal Squamous(187;747 2077 11056 31291 44172)	uc010tfw.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|lung(1)	2						c.(979-981)ATA>GTA		zinc finger CCCH-type containing 13							142.0	132.0	135.0					13																	46563198		2203	4300	6503	SO:0001583	missense	23091						nucleic acid binding|zinc ion binding	g.chr13:46563198T>C	AB020660	CCDS9400.1	13q14.11	2012-07-05	2006-05-15	2006-05-15	ENSG00000123200	ENSG00000123200		"""Zinc fingers, CCCH-type domain containing"""	20368	protein-coding gene	gene with protein product			"""KIAA0853"""	KIAA0853		10048485	Standard	XM_005266301		Approved	DKFZp434D1812	uc001vas.1	Q5T200	OTTHUMG00000016863	ENST00000242848.4:c.979A>G	13.37:g.46563198T>C	ENSP00000242848:p.Ile327Val					ZC3H13_uc001vas.1_Missense_Mutation_p.I327V|ZC3H13_uc001vat.1_Missense_Mutation_p.I327V	p.I327V	NM_015070	NP_055885	Q5T200	ZC3HD_HUMAN	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;4.18e-05)	8	985	-		Lung NSC(96;7.26e-05)|Breast(56;0.000118)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	327			Ser-rich.		A2A323|O94936|Q5T1Z9|Q7Z7J3|Q8NDT6|Q9H0L6	Missense_Mutation	SNP	ENST00000242848.4	37	c.979A>G		.	.	.	.	.	.	.	.	.	.	T	11.87	1.766256	0.31228	.	.	ENSG00000123200	ENST00000242848;ENST00000282007;ENST00000431251	T;T	0.28895	2.59;1.59	6.02	-0.28	0.12886	.	0.403945	0.23793	N	0.044518	T	0.14657	0.0354	N	0.19112	0.55	0.80722	D	1	B;B	0.09022	0.001;0.002	B;B	0.12156	0.003;0.007	T	0.08452	-1.0721	10	0.25751	T	0.34	.	4.9314	0.13919	0.107:0.063:0.3067:0.5234	.	327;327	Q5T200;Q5T200-2	ZC3HD_HUMAN;.	V	327;327;143	ENSP00000242848:I327V;ENSP00000282007:I327V	ENSP00000242848:I327V	I	-	1	0	ZC3H13	45461199	1.000000	0.71417	0.997000	0.53966	0.995000	0.86356	0.857000	0.27831	0.116000	0.18110	0.528000	0.53228	ATA		PASS	0.388	ZC3H13-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000044789.1	NM_015070		29	36	29	36	---	---	---	---
CCDC70	83446	broad.mit.edu	37	13	52439998	52439999	+	Missense_Mutation	DNP	GC	GC	TA			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr13:52439998_52439999GC>TA	ENST00000242819.4	+	2	780_781	c.484_485GC>TA	c.(484-486)GCc>TAc	p.A162Y		NM_031290.2	NP_112580.2	Q6NSX1	CCD70_HUMAN	coiled-coil domain containing 70	162						extracellular region (GO:0005576)|plasma membrane (GO:0005886)		p.A162D(1)|p.A162S(1)|p.A162Y(1)		breast(1)|large_intestine(4)|lung(7)|skin(2)|urinary_tract(1)	15		Breast(56;0.000207)|Lung NSC(96;0.00145)|Prostate(109;0.0107)|Hepatocellular(98;0.065)|all_neural(104;0.19)		GBM - Glioblastoma multiforme(99;2.4e-08)		GGAAGAAAAGGCCCTGTGGGTA	0.55																																						uc001vfu.3																			3	Substitution - Missense(3)		lung(3)		0						c.(484-486)GCC>TCC|c.(484-486)GCC>GAC		coiled-coil domain containing 70 precursor																																				SO:0001583	missense	83446					extracellular region|plasma membrane		g.chr13:52439998G>T|g.chr13:52439999C>A		CCDS9431.1	13q14.3	2006-02-07			ENSG00000123171	ENSG00000123171			25303	protein-coding gene	gene with protein product						11230166	Standard	NM_031290		Approved	DKFZP434K1172, FLJ25853	uc001vfu.4	Q6NSX1	OTTHUMG00000016950	Exception_encountered	13.37:g.52439998_52439999delinsTA	ENSP00000242819:p.Ala162Tyr					uc010tgr.1_RNA	p.A162S|p.A162D	NM_031290	NP_112580	Q6NSX1	CCD70_HUMAN		GBM - Glioblastoma multiforme(99;2.4e-08)	2	780|781	+		Breast(56;0.000207)|Lung NSC(96;0.00145)|Prostate(109;0.0107)|Hepatocellular(98;0.065)|all_neural(104;0.19)	162			Potential.		Q8N7A8|Q9H097	Missense_Mutation	SNP	ENST00000242819.4	37	c.484G>T|c.485C>A	CCDS9431.1																																																																																				PASS	0.550	CCDC70-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045033.2	NM_031290		95|94	78|77	94	77	---	---	---	---
THSD1	55901	broad.mit.edu	37	13	52952431	52952431	+	Silent	SNP	G	G	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr13:52952431G>T	ENST00000258613.4	-	5	1852	c.1674C>A	c.(1672-1674)ccC>ccA	p.P558P	THSD1_ENST00000544466.1_Silent_p.P179P|THSD1_ENST00000349258.4_Silent_p.P505P	NM_018676.3	NP_061146.1	Q9NS62	THSD1_HUMAN	thrombospondin, type I, domain containing 1	558					hematopoietic progenitor cell differentiation (GO:0002244)	cell periphery (GO:0071944)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)		p.P558P(1)		breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(11)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30		Breast(56;0.000207)|Lung NSC(96;0.00145)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;2.8e-08)		TGTCTGTCAGGGGACTCTGAG	0.517																																						uc001vgo.2																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|upper_aerodigestive_tract(1)|skin(1)	4						c.(1672-1674)CCC>CCA		thrombospondin type I domain-containing 1							101.0	105.0	104.0					13																	52952431		2203	4300	6503	SO:0001819	synonymous_variant	55901					extracellular region|integral to membrane|intracellular membrane-bounded organelle		g.chr13:52952431G>T	AK096289	CCDS9432.1, CCDS9433.1	13q14.13	2010-04-20	2004-03-11		ENSG00000136114	ENSG00000136114			17754	protein-coding gene	gene with protein product			"""thrombospondin, type I, domain 1"""				Standard	NM_018676		Approved	TMTSP	uc001vgo.3	Q9NS62	OTTHUMG00000016963	ENST00000258613.4:c.1674C>A	13.37:g.52952431G>T						THSD1_uc001vgp.2_Silent_p.P505P|THSD1_uc010tgz.1_Silent_p.P179P|THSD1_uc010aea.2_Silent_p.P19P	p.P558P	NM_018676	NP_061146	Q9NS62	THSD1_HUMAN		GBM - Glioblastoma multiforme(99;2.8e-08)	5	2219	-		Breast(56;0.000207)|Lung NSC(96;0.00145)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)	558			Cytoplasmic (Potential).		A2A3J3|B2RCF5|Q6P3U1|Q6UXZ2	Silent	SNP	ENST00000258613.4	37	c.1674C>A	CCDS9432.1																																																																																				PASS	0.517	THSD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045058.3			102	97	102	97	---	---	---	---
TDRD3	81550	broad.mit.edu	37	13	61102614	61102614	+	Missense_Mutation	SNP	A	A	G			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr13:61102614A>G	ENST00000196169.3	+	11	1764	c.976A>G	c.(976-978)Agg>Ggg	p.R326G	TDRD3_ENST00000377894.2_Missense_Mutation_p.R326G|TDRD3_ENST00000535286.1_Missense_Mutation_p.R419G|TDRD3_ENST00000377881.2_Missense_Mutation_p.R326G	NM_001146071.1|NM_030794.2	NP_001139543.1|NP_110421.1	Q9H7E2	TDRD3_HUMAN	tudor domain containing 3	326					chromatin modification (GO:0016568)|regulation of RNA biosynthetic process (GO:2001141)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|methylated histone binding (GO:0035064)|poly(A) RNA binding (GO:0044822)|transcription coactivator activity (GO:0003713)	p.R326G(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|liver(1)|lung(16)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	40		Prostate(109;0.173)|Breast(118;0.174)		GBM - Glioblastoma multiforme(99;0.000291)		AAATGATACCAGGCAGCCAAG	0.403																																					Colon(36;164 906 35820 50723)	uc001via.2																			1	Substitution - Missense(1)		lung(1)	upper_aerodigestive_tract(1)|skin(1)	2						c.(976-978)AGG>GGG		tudor domain containing 3 isoform 2							83.0	86.0	85.0					13																	61102614		2203	4300	6503	SO:0001583	missense	81550				chromatin modification	cytoplasm|nucleus	chromatin binding|methylated histone residue binding|nucleic acid binding|transcription coactivator activity	g.chr13:61102614A>G	AK023578	CCDS9441.1, CCDS53872.1	13q14.3	2013-01-23			ENSG00000083544	ENSG00000083544		"""Tudor domain containing"""	20612	protein-coding gene	gene with protein product		614392					Standard	NM_030794		Approved	FLJ21007	uc010aeg.3	Q9H7E2	OTTHUMG00000017007	ENST00000196169.3:c.976A>G	13.37:g.61102614A>G	ENSP00000196169:p.Arg326Gly					TDRD3_uc010aef.2_Missense_Mutation_p.R151G|TDRD3_uc001vhz.3_Missense_Mutation_p.R326G|TDRD3_uc010aeg.2_Missense_Mutation_p.R419G|TDRD3_uc001vib.3_Missense_Mutation_p.R325G	p.R326G	NM_030794	NP_110421	Q9H7E2	TDRD3_HUMAN		GBM - Glioblastoma multiforme(99;0.000291)	11	1764	+		Prostate(109;0.173)|Breast(118;0.174)	326					B2MWP9|Q53XA6|Q6P992	Missense_Mutation	SNP	ENST00000196169.3	37	c.976A>G	CCDS9441.1	.	.	.	.	.	.	.	.	.	.	A	21.5	4.155400	0.78114	.	.	ENSG00000083544	ENST00000196169;ENST00000377881;ENST00000377894;ENST00000535286	D;D;D;D	0.94537	-3.45;-3.45;-3.45;-3.44	6.05	6.05	0.98169	.	0.040267	0.85682	D	0.000000	D	0.96781	0.8949	M	0.68952	2.095	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.996;0.998	D	0.96915	0.9670	10	0.56958	D	0.05	-19.0935	16.5932	0.84781	1.0:0.0:0.0:0.0	.	419;325;326	Q9H7E2-3;Q9H7E2-2;Q9H7E2	.;.;TDRD3_HUMAN	G	326;326;326;419	ENSP00000196169:R326G;ENSP00000367113:R326G;ENSP00000367126:R326G;ENSP00000440190:R419G	ENSP00000196169:R326G	R	+	1	2	TDRD3	60000615	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.754000	0.85163	2.320000	0.78422	0.528000	0.53228	AGG		PASS	0.403	TDRD3-201	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000045175.2	NM_030794		82	59	82	59	---	---	---	---
PCDH9	5101	broad.mit.edu	37	13	67205431	67205431	+	Missense_Mutation	SNP	A	A	G			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr13:67205431A>G	ENST00000377865.2	-	3	3385	c.3251T>C	c.(3250-3252)cTt>cCt	p.L1084P	PCDH9_ENST00000456367.1_Missense_Mutation_p.L1050P|PCDH9_ENST00000328454.5_Missense_Mutation_p.L1050P|PCDH9_ENST00000544246.1_Missense_Mutation_p.L1084P|RNU7-87P_ENST00000459343.1_RNA			Q9HC56	PCDH9_HUMAN	protocadherin 9	1084					forebrain development (GO:0030900)|homophilic cell adhesion (GO:0007156)	cell-cell contact zone (GO:0044291)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.L1084P(1)		breast(2)|central_nervous_system(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(33)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	103		Hepatocellular(98;0.0906)|Breast(118;0.107)		GBM - Glioblastoma multiforme(99;0.00819)		AACCAGAGGAAGAGGGTGTGA	0.552																																						uc001vik.2																			1	Substitution - Missense(1)		lung(1)	ovary(4)|pancreas(1)|skin(1)	6						c.(3250-3252)CTT>CCT		protocadherin 9 isoform 1 precursor							137.0	120.0	126.0					13																	67205431		2203	4300	6503	SO:0001583	missense	5101				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr13:67205431A>G	AF169692	CCDS9443.1, CCDS9444.1	13q21.32	2010-02-22			ENSG00000184226	ENSG00000184226		"""Cadherins / Protocadherins : Non-clustered"""	8661	protein-coding gene	gene with protein product		603581				9787079	Standard	NM_020403		Approved		uc001vik.3	Q9HC56	OTTHUMG00000017040	ENST00000377865.2:c.3251T>C	13.37:g.67205431A>G	ENSP00000367096:p.Leu1084Pro					PCDH9_uc010aei.2_RNA|PCDH9_uc001vil.2_Missense_Mutation_p.L1050P|PCDH9_uc010thl.1_Intron	p.L1084P	NM_203487	NP_982354	Q9HC56	PCDH9_HUMAN		GBM - Glioblastoma multiforme(99;0.00819)	4	3943	-		Hepatocellular(98;0.0906)|Breast(118;0.107)	1084			Cytoplasmic (Potential).		A2A6U1|Q5VT83|Q7Z3U0|Q8N3K7	Missense_Mutation	SNP	ENST00000377865.2	37	c.3251T>C	CCDS9444.1	.	.	.	.	.	.	.	.	.	.	A	23.6	4.441512	0.83993	.	.	ENSG00000184226	ENST00000544246;ENST00000377865;ENST00000456367;ENST00000328454	T;T;T;T	0.58797	0.32;0.32;0.31;0.31	5.78	5.78	0.91487	.	0.200898	0.31370	N	0.007767	T	0.71609	0.3360	L	0.52011	1.625	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.78314	0.991;0.982	T	0.74237	-0.3730	10	0.87932	D	0	.	16.1008	0.81169	1.0:0.0:0.0:0.0	.	1050;1084	Q9HC56-2;Q9HC56	.;PCDH9_HUMAN	P	1084;1084;1050;1050	ENSP00000442186:L1084P;ENSP00000367096:L1084P;ENSP00000401699:L1050P;ENSP00000332060:L1050P	ENSP00000332060:L1050P	L	-	2	0	PCDH9	66103432	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.918000	0.92759	2.206000	0.71126	0.533000	0.62120	CTT		PASS	0.552	PCDH9-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000276387.1	NM_203487		61	57	61	57	---	---	---	---
LMO7	4008	broad.mit.edu	37	13	76432084	76432084	+	Nonstop_Mutation	SNP	A	A	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr13:76432084A>T	ENST00000377534.3	+	30	6105	c.4845A>T	c.(4843-4845)taA>taT	p.*1615Y	LMO7_ENST00000357063.3_Missense_Mutation_p.S1650C|LMO7_ENST00000526202.1_3'UTR|LMO7_ENST00000321797.8_3'UTR|LMO7_ENST00000341547.4_3'UTR|LMO7_ENST00000465261.2_Missense_Mutation_p.S1365C|LMO7_ENST00000605961.1_3'UTR			Q8WWI1	LMO7_HUMAN	LIM domain 7	0	LIM zinc-binding. {ECO:0000255|PROSITE- ProRule:PRU00125}.				protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)	ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.S1365C(1)|p.S1650C(1)		NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(20)|lung(15)|ovary(2)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	56		Breast(118;0.0992)		GBM - Glioblastoma multiforme(99;0.0109)		ATGTGATGTAAGCCTCCATAC	0.403																																						uc001vjv.2																			2	Substitution - Missense(2)		lung(2)	large_intestine(2)|ovary(1)|prostate(1)|skin(1)	5						c.(4093-4095)AGC>TGC		LIM domain only 7 isoform 2							144.0	136.0	138.0					13																	76432084		2203	4300	6503	SO:0001578	stop_lost	4008					cytoplasm|nucleus|ubiquitin ligase complex	ubiquitin-protein ligase activity|zinc ion binding	g.chr13:76432084A>T	AF092557	CCDS9454.1, CCDS53876.1	13q22.2	2008-02-05	2004-06-15		ENSG00000136153	ENSG00000136153			6646	protein-coding gene	gene with protein product	"""F-box only protein 20"""	604362	"""LIM domain only 7"""	FBXO20		9826547, 10531035	Standard	NM_005358		Approved	FBX20, KIAA0858	uc021rkq.1	Q8WWI1	OTTHUMG00000017093	ENST00000377534.3:c.4845A>T	13.37:g.76432084A>T	ENSP00000366757:p.*1615Tyrext*10					LMO7_uc010thv.1_3'UTR|LMO7_uc010thw.1_3'UTR|LMO7_uc001vjx.1_RNA	p.S1365C	NM_015842	NP_056667	Q8WWI1	LMO7_HUMAN		GBM - Glioblastoma multiforme(99;0.0109)	27	4853	+		Breast(118;0.0992)	Error:Variant_position_missing_in_Q8WWI1_after_alignment					E9PLH4|O15462|O95346|Q5TBK6|Q9UKC1|Q9UQM5|Q9Y6A7	Missense_Mutation	SNP	ENST00000377534.3	37	c.4093A>T		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	21.1|21.1	4.104835|4.104835	0.77096|0.77096	.|.	.|.	ENSG00000136153|ENSG00000136153	ENST00000357063;ENST00000465261|ENST00000377534	T;T|.	0.48522|.	1.38;0.81|.	5.48|5.48	5.48|5.48	0.80851|0.80851	.|.	.|.	.|.	.|.	.|.	T|.	0.29190|.	0.0726|.	N|N	0.08118|0.08118	0|0	0.09310|0.09310	N|N	1|1	D|.	0.57257|.	0.979|.	P|.	0.46975|.	0.533|.	T|.	0.21965|.	-1.0230|.	9|.	0.72032|.	D|.	0.01|.	.|.	15.8734|15.8734	0.79141|0.79141	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	1365|.	E9PLH4|.	.|.	C|Y	1650;1365|1615	ENSP00000349571:S1650C;ENSP00000433352:S1365C|.	ENSP00000349571:S1650C|.	S|X	+|+	1|3	0|2	LMO7|LMO7	75330085|75330085	1.000000|1.000000	0.71417|0.71417	0.899000|0.899000	0.35326|0.35326	0.844000|0.844000	0.47949|0.47949	7.087000|7.087000	0.76893|0.76893	2.204000|2.204000	0.70986|0.70986	0.528000|0.528000	0.53228|0.53228	AGC|TAA		PASS	0.403	LMO7-202	KNOWN	basic	protein_coding	protein_coding		NM_005358		39	56	39	56	---	---	---	---
MYCBP2	23077	broad.mit.edu	37	13	77835401	77835401	+	Nonsense_Mutation	SNP	G	G	C			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr13:77835401G>C	ENST00000544440.2	-	12	1660	c.1643C>G	c.(1642-1644)tCa>tGa	p.S548*	MYCBP2_ENST00000407578.2_Nonsense_Mutation_p.S586*|MYCBP2_ENST00000357337.6_Nonsense_Mutation_p.S548*|MYCBP2_ENST00000360084.5_5'UTR					MYC binding protein 2, E3 ubiquitin protein ligase									p.S548*(2)|p.S586*(1)		NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	118		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)		GBM - Glioblastoma multiforme(99;0.109)		GTGTCCAACTGAGAAGTGTAC	0.428																																						uc001vkf.2																			3	Substitution - Nonsense(3)		lung(3)	ovary(4)|breast(4)|skin(3)|lung(2)|pancreas(1)	14						c.(1642-1644)TCA>TGA		MYC binding protein 2							155.0	138.0	144.0					13																	77835401		2203	4300	6503	SO:0001587	stop_gained	23077				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ligase activity|protein binding|zinc ion binding	g.chr13:77835401G>C	AB020723		13q22	2012-02-23	2012-02-23		ENSG00000005810	ENSG00000005810			23386	protein-coding gene	gene with protein product		610392	"""MYC binding protein 2"""			9689053, 15057823	Standard	NM_015057		Approved	PAM, KIAA0916, FLJ10106	uc021rks.1	O75592	OTTHUMG00000017105	ENST00000544440.2:c.1643C>G	13.37:g.77835401G>C	ENSP00000444596:p.Ser548*					MYCBP2_uc010aev.2_5'UTR	p.S548*	NM_015057	NP_055872	O75592	MYCB2_HUMAN		GBM - Glioblastoma multiforme(99;0.109)	13	1734	-		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)	548						Nonsense_Mutation	SNP	ENST00000544440.2	37	c.1643C>G		.	.	.	.	.	.	.	.	.	.	G	40	8.003596	0.98605	.	.	ENSG00000005810	ENST00000357337;ENST00000407578;ENST00000544440	.	.	.	5.62	5.62	0.85841	.	0.000000	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	.	19.6562	0.95842	0.0:0.0:1.0:0.0	.	.	.	.	X	548;586;548	.	ENSP00000349892:S548X	S	-	2	0	MYCBP2	76733402	1.000000	0.71417	0.998000	0.56505	0.998000	0.95712	9.869000	0.99810	2.653000	0.90120	0.585000	0.79938	TCA		PASS	0.428	MYCBP2-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000045326.1	NM_015057		76	72	76	72	---	---	---	---
SLITRK6	84189	broad.mit.edu	37	13	86369386	86369386	+	Missense_Mutation	SNP	C	C	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr13:86369386C>A	ENST00000400286.2	-	2	1856	c.1258G>T	c.(1258-1260)Ggt>Tgt	p.G420C		NM_032229.2	NP_115605.2	Q9H5Y7	SLIK6_HUMAN	SLIT and NTRK-like family, member 6	420					adult locomotory behavior (GO:0008344)|auditory behavior (GO:0031223)|auditory receptor cell morphogenesis (GO:0002093)|axonogenesis (GO:0007409)|cochlea development (GO:0090102)|innervation (GO:0060384)|lens development in camera-type eye (GO:0002088)|linear vestibuloocular reflex (GO:0060007)|multicellular organism growth (GO:0035264)|sensory perception of sound (GO:0007605)|startle response (GO:0001964)|synapse assembly (GO:0007416)|vestibulocochlear nerve development (GO:0021562)|visual perception (GO:0007601)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)		p.G420C(1)		breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(18)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_neural(89;0.117)|Medulloblastoma(90;0.163)			GBM - Glioblastoma multiforme(99;0.0456)		AGGTGGTTACCATTTAGATAG	0.353																																						uc001vll.1																			1	Substitution - Missense(1)		lung(1)	large_intestine(1)|ovary(1)|central_nervous_system(1)	3						c.(1258-1260)GGT>TGT		slit and trk like 6 precursor							82.0	79.0	80.0					13																	86369386		1856	4091	5947	SO:0001583	missense	84189					integral to membrane		g.chr13:86369386C>A	AK026427	CCDS41903.1	13q31.1	2006-04-12			ENSG00000184564	ENSG00000184564			23503	protein-coding gene	gene with protein product		609681				14557068	Standard	NM_032229		Approved	FLJ22774	uc001vll.1	Q9H5Y7	OTTHUMG00000017157	ENST00000400286.2:c.1258G>T	13.37:g.86369386C>A	ENSP00000383143:p.Gly420Cys					SLITRK6_uc010afe.1_Intron	p.G420C	NM_032229	NP_115605	Q9H5Y7	SLIK6_HUMAN		GBM - Glioblastoma multiforme(99;0.0456)	2	1717	-	all_neural(89;0.117)|Medulloblastoma(90;0.163)		420			Extracellular (Potential).|LRR 8.		A8K9S8|Q495Q0|Q6AW93|Q9HAA8|Q9NT60	Missense_Mutation	SNP	ENST00000400286.2	37	c.1258G>T	CCDS41903.1	.	.	.	.	.	.	.	.	.	.	C	12.59	1.983246	0.35036	.	.	ENSG00000184564	ENST00000400286	T	0.59502	0.26	5.61	5.61	0.85477	.	0.000000	0.64402	U	0.000002	T	0.75635	0.3876	M	0.66939	2.045	0.58432	D	0.999997	D	0.89917	1.0	D	0.91635	0.999	T	0.77370	-0.2613	10	0.87932	D	0	-8.3013	18.2001	0.89836	0.0:1.0:0.0:0.0	.	420	Q9H5Y7	SLIK6_HUMAN	C	420	ENSP00000383143:G420C	ENSP00000383143:G420C	G	-	1	0	SLITRK6	85267387	1.000000	0.71417	1.000000	0.80357	0.297000	0.27493	6.089000	0.71384	2.648000	0.89879	0.585000	0.79938	GGT		PASS	0.353	SLITRK6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045404.2	NM_032229		48	36	48	36	---	---	---	---
SLITRK5	26050	broad.mit.edu	37	13	88329802	88329802	+	Missense_Mutation	SNP	G	G	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr13:88329802G>A	ENST00000325089.6	+	2	2378	c.2159G>A	c.(2158-2160)gGc>gAc	p.G720D	SLITRK5_ENST00000400028.3_Missense_Mutation_p.G479D	NM_015567.1	NP_056382.1	O94991	SLIK5_HUMAN	SLIT and NTRK-like family, member 5	720					adult behavior (GO:0030534)|axonogenesis (GO:0007409)|cardiovascular system development (GO:0072358)|dendrite morphogenesis (GO:0048813)|grooming behavior (GO:0007625)|response to xenobiotic stimulus (GO:0009410)|skin development (GO:0043588)|striatum development (GO:0021756)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)		p.G720D(1)		breast(1)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(14)|lung(40)|ovary(2)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(4)	81	all_neural(89;0.101)|Medulloblastoma(90;0.163)					TACGGCGGCGGCGGCGGCACG	0.652																																						uc001vln.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|pancreas(2)|central_nervous_system(1)	5						c.(2158-2160)GGC>GAC		SLIT and NTRK-like family, member 5 precursor							43.0	52.0	49.0					13																	88329802		2201	4296	6497	SO:0001583	missense	26050					integral to membrane		g.chr13:88329802G>A	AB020725	CCDS9465.1	13q31.1	2004-04-16	2004-01-08		ENSG00000165300	ENSG00000165300			20295	protein-coding gene	gene with protein product		609680	"""leucine rich repeat containing 11"""	LRRC11		10048485, 14557068	Standard	NM_015567		Approved	bA364G4.2, KIAA0918	uc001vln.3	O94991	OTTHUMG00000017167	ENST00000325089.6:c.2159G>A	13.37:g.88329802G>A	ENSP00000366283:p.Gly720Asp					SLITRK5_uc010tic.1_Missense_Mutation_p.G479D	p.G720D	NM_015567	NP_056382	O94991	SLIK5_HUMAN			2	2378	+	all_neural(89;0.101)|Medulloblastoma(90;0.163)		720			Cytoplasmic (Potential).		B3KNB8|B4DSH5|Q5VT81	Missense_Mutation	SNP	ENST00000325089.6	37	c.2159G>A	CCDS9465.1	.	.	.	.	.	.	.	.	.	.	G	5.516	0.280207	0.10458	.	.	ENSG00000165300	ENST00000325089;ENST00000400028	T;T	0.57107	0.42;0.76	5.0	4.15	0.48705	.	0.294842	0.24476	N	0.038189	T	0.39279	0.1072	L	0.34521	1.04	0.35983	D	0.836158	B;B	0.19817	0.039;0.0	B;B	0.14578	0.011;0.001	T	0.38373	-0.9664	9	.	.	.	-5.5967	11.4248	0.50004	0.0:0.1827:0.8173:0.0	.	479;720	B4DSH5;O94991	.;SLIK5_HUMAN	D	720;479	ENSP00000366283:G720D;ENSP00000442244:G479D	.	G	+	2	0	SLITRK5	87127803	0.964000	0.33143	0.974000	0.42286	0.474000	0.32979	1.509000	0.35780	1.059000	0.40554	0.455000	0.32223	GGC		PASS	0.652	SLITRK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045416.3			24	23	24	23	---	---	---	---
STK24	8428	broad.mit.edu	37	13	99116047	99116047	+	Missense_Mutation	SNP	C	C	G	rs369035053		TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr13:99116047C>G	ENST00000376547.3	-	7	1008	c.863G>C	c.(862-864)cGc>cCc	p.R288P	STK24_ENST00000397517.2_Missense_Mutation_p.R276P|STK24_ENST00000539966.1_Missense_Mutation_p.R257P	NM_003576.3	NP_003567.2	Q9Y6E0	STK24_HUMAN	serine/threonine kinase 24	288					apoptotic process (GO:0006915)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|execution phase of apoptosis (GO:0097194)|intrinsic apoptotic signaling pathway in response to oxidative stress (GO:0008631)|negative regulation of cell migration (GO:0030336)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of axon regeneration (GO:0048679)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.R288P(1)		NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(7)|ovary(1)|skin(1)	17	all_neural(89;0.0982)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		BRCA - Breast invasive adenocarcinoma(86;0.233)			CTTTGCATTGCGTAGTATAAA	0.468																																						uc001vnm.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|lung(1)	2						c.(862-864)CGC>CCC		serine/threonine kinase 24 isoform a							166.0	154.0	158.0					13																	99116047		2203	4300	6503	SO:0001583	missense	8428				cellular component disassembly involved in apoptosis|signal transduction	cytosol|nucleoplasm	ATP binding|protein binding|protein serine/threonine kinase activity	g.chr13:99116047C>G	AF024636	CCDS9488.1, CCDS32001.1, CCDS66573.1	13q31.2-q32.3	2010-06-25	2010-06-25		ENSG00000102572	ENSG00000102572			11403	protein-coding gene	gene with protein product	"""STE20-like kinase 3"", ""sterile 20-like kinase 3"""	604984	"""serine/threonine kinase 24 (Ste20, yeast homolog)"""			9353338, 10644707	Standard	NM_003576		Approved	MST-3, MST3, MST3B, STK3, STE20	uc001vnn.1	Q9Y6E0	OTTHUMG00000017250	ENST00000376547.3:c.863G>C	13.37:g.99116047C>G	ENSP00000365730:p.Arg288Pro					STK24_uc001vnn.1_Missense_Mutation_p.R276P|STK24_uc010tim.1_Missense_Mutation_p.R257P	p.R288P	NM_003576	NP_003567	Q9Y6E0	STK24_HUMAN	BRCA - Breast invasive adenocarcinoma(86;0.233)		7	1098	-	all_neural(89;0.0982)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		288					O14840|Q5JV92	Missense_Mutation	SNP	ENST00000376547.3	37	c.863G>C	CCDS9488.1	.	.	.	.	.	.	.	.	.	.	C	18.78	3.697198	0.68386	.	.	ENSG00000102572	ENST00000397517;ENST00000376554;ENST00000376547;ENST00000376541;ENST00000539966;ENST00000376533;ENST00000543110	T;T;T;T	0.23950	1.88;1.88;1.88;1.88	5.23	5.23	0.72850	Protein kinase-like domain (1);	0.000000	0.50627	U	0.000107	T	0.55561	0.1928	M	0.88105	2.93	0.80722	D	1	D;D;P	0.56287	0.972;0.975;0.956	P;P;P	0.58620	0.698;0.842;0.797	T	0.65693	-0.6106	10	0.87932	D	0	.	18.8262	0.92121	0.0:1.0:0.0:0.0	.	257;276;288	B4DR80;Q5U0E6;Q9Y6E0	.;.;STK24_HUMAN	P	276;77;288;91;257;264;276	ENSP00000380651:R276P;ENSP00000365737:R77P;ENSP00000365730:R288P;ENSP00000442539:R257P	ENSP00000365716:R264P	R	-	2	0	STK24	97914048	1.000000	0.71417	0.998000	0.56505	0.467000	0.32768	5.710000	0.68392	2.441000	0.82636	0.591000	0.81541	CGC		PASS	0.468	STK24-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000045549.2	NM_003576		30	46	30	46	---	---	---	---
NALCN	259232	broad.mit.edu	37	13	101735197	101735197	+	Missense_Mutation	SNP	G	G	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr13:101735197G>T	ENST00000251127.6	-	33	3809	c.3728C>A	c.(3727-3729)aCa>aAa	p.T1243K		NM_052867.2	NP_443099.1	Q8IZF0	NALCN_HUMAN	sodium leak channel, non-selective	1243					calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|cell death (GO:0008219)|ion transmembrane transport (GO:0034220)|membrane depolarization during action potential (GO:0086010)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	sodium channel activity (GO:0005272)|voltage-gated calcium channel activity (GO:0005245)	p.T1243K(1)		NS(1)|autonomic_ganglia(2)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(33)|liver(2)|lung(81)|ovary(8)|pancreas(3)|prostate(5)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	177	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					AACTGACATTGTTGCCAAAGG	0.507																																						uc001vox.1																			1	Substitution - Missense(1)		lung(1)	ovary(8)|breast(4)|skin(2)|pancreas(1)|central_nervous_system(1)	16						c.(3727-3729)ACA>AAA		voltage gated channel like 1							130.0	118.0	122.0					13																	101735197		2203	4300	6503	SO:0001583	missense	259232					integral to membrane	sodium channel activity|voltage-gated ion channel activity	g.chr13:101735197G>T	AY141972	CCDS9498.1	13q32.3	2012-02-21	2007-04-26	2007-04-26	ENSG00000102452	ENSG00000102452		"""Ion channels / Sodium leak channels, non-selective"""	19082	protein-coding gene	gene with protein product		611549	"""voltage gated channel like 1"""	VGCNL1		17448995	Standard	XM_006719943		Approved	bA430M15.1, CanIon	uc001vox.1	Q8IZF0	OTTHUMG00000017295	ENST00000251127.6:c.3728C>A	13.37:g.101735197G>T	ENSP00000251127:p.Thr1243Lys						p.T1243K	NM_052867	NP_443099	Q8IZF0	NALCN_HUMAN			33	3917	-	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		1243			Helical; Name=S2 of repeat IV; (Potential).		Q6P2S6|Q6ZMI7|Q8IZZ1|Q8TAH1	Missense_Mutation	SNP	ENST00000251127.6	37	c.3728C>A	CCDS9498.1	.	.	.	.	.	.	.	.	.	.	G	28.8	4.951108	0.92660	.	.	ENSG00000102452	ENST00000251127	D	0.97455	-4.39	5.64	5.64	0.86602	.	0.099641	0.64402	D	0.000002	D	0.97210	0.9088	L	0.50333	1.59	0.80722	D	1	P	0.51653	0.947	P	0.57009	0.811	D	0.95881	0.8899	10	0.23302	T	0.38	.	19.699	0.96045	0.0:0.0:1.0:0.0	.	1243	Q8IZF0	NALCN_HUMAN	K	1243	ENSP00000251127:T1243K	ENSP00000251127:T1243K	T	-	2	0	NALCN	100533198	1.000000	0.71417	0.982000	0.44146	0.998000	0.95712	9.367000	0.97148	2.645000	0.89757	0.650000	0.86243	ACA		PASS	0.507	NALCN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045663.2	NM_052867		54	53	54	53	---	---	---	---
COL4A1	1282	broad.mit.edu	37	13	110815855	110815855	+	Missense_Mutation	SNP	C	C	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr13:110815855C>A	ENST00000375820.4	-	47	4325	c.4204G>T	c.(4204-4206)Ggt>Tgt	p.G1402C	COL4A1_ENST00000467182.1_5'Flank	NM_001845.4	NP_001836.2	P02462	CO4A1_HUMAN	collagen, type IV, alpha 1	1402	Triple-helical region.				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.G1045C(1)|p.G1402C(1)		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)			CCAGGGGCACCGTCAAACCCA	0.502																																						uc001vqw.3																			2	Substitution - Missense(2)		lung(2)	ovary(3)|lung(1)|central_nervous_system(1)|pancreas(1)	6						c.(4204-4206)GGT>TGT		alpha 1 type IV collagen preproprotein							59.0	51.0	54.0					13																	110815855		2203	4300	6503	SO:0001583	missense	1282				angiogenesis|axon guidance		extracellular matrix structural constituent|platelet-derived growth factor binding	g.chr13:110815855C>A	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.4204G>T	13.37:g.110815855C>A	ENSP00000364979:p.Gly1402Cys					COL4A1_uc010agl.2_Intron	p.G1402C	NM_001845	NP_001836	P02462	CO4A1_HUMAN	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.145)		47	4326	-	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)	1402			Triple-helical region.		A7E2W4|B1AM70|Q1P9S9|Q5VWF6|Q86X41|Q8NF88|Q9NYC5	Missense_Mutation	SNP	ENST00000375820.4	37	c.4204G>T	CCDS9511.1	.	.	.	.	.	.	.	.	.	.	C	20.6	4.023172	0.75275	.	.	ENSG00000187498	ENST00000375815;ENST00000375820;ENST00000397198	D	0.99637	-6.29	5.43	5.43	0.79202	.	0.000000	0.85682	D	0.000000	D	0.99843	0.9928	H	0.98936	4.375	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.96549	0.9406	10	0.87932	D	0	.	19.2668	0.93990	0.0:1.0:0.0:0.0	.	1402	P02462	CO4A1_HUMAN	C	1045;1402;1051	ENSP00000364979:G1402C	ENSP00000364973:G1045C	G	-	1	0	COL4A1	109613856	1.000000	0.71417	0.250000	0.24296	0.552000	0.35366	7.292000	0.78731	2.547000	0.85894	0.591000	0.81541	GGT		PASS	0.502	COL4A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045759.3			19	29	19	29	---	---	---	---
OR11H6	122748	broad.mit.edu	37	14	20692744	20692744	+	Silent	SNP	C	C	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr14:20692744C>A	ENST00000315519.2	+	1	954	c.876C>A	c.(874-876)atC>atA	p.I292I		NM_001004480.1	NP_001004480.1	Q8NGC7	O11H6_HUMAN	olfactory receptor, family 11, subfamily H, member 6	292						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.I292I(1)		cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(13)|ovary(2)|prostate(1)|skin(2)	29	all_cancers(95;0.00108)		Epithelial(56;1.75e-06)|all cancers(55;1.22e-05)	GBM - Glioblastoma multiforme(265;0.0143)		AGAAGATCATCACTCTGGTAT	0.443																																						uc010tlc.1																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|skin(1)	3						c.(874-876)ATC>ATA		olfactory receptor, family 11, subfamily H,							120.0	114.0	116.0					14																	20692744		2203	4300	6503	SO:0001819	synonymous_variant	122748				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:20692744C>A		CCDS32033.1	14q11.2	2013-09-24			ENSG00000176219	ENSG00000176219		"""GPCR / Class A : Olfactory receptors"""	15349	protein-coding gene	gene with protein product							Standard	NM_001004480		Approved		uc010tlc.2	Q8NGC7	OTTHUMG00000170850	ENST00000315519.2:c.876C>A	14.37:g.20692744C>A							p.I292I	NM_001004480	NP_001004480	Q8NGC7	O11H6_HUMAN	Epithelial(56;1.75e-06)|all cancers(55;1.22e-05)	GBM - Glioblastoma multiforme(265;0.0143)	1	876	+	all_cancers(95;0.00108)		292			Helical; Name=7; (Potential).		Q6IF08	Silent	SNP	ENST00000315519.2	37	c.876C>A	CCDS32033.1																																																																																				PASS	0.443	OR11H6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410676.1			46	176	46	176	---	---	---	---
TTC5	91875	broad.mit.edu	37	14	20768879	20768879	+	Missense_Mutation	SNP	C	C	G			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr14:20768879C>G	ENST00000258821.3	-	3	339	c.283G>C	c.(283-285)Gct>Cct	p.A95P		NM_138376.2	NP_612385.2	Q8N0Z6	TTC5_HUMAN	tetratricopeptide repeat domain 5	95					DNA repair (GO:0006281)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)	p.A95P(1)		endometrium(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)	15	all_cancers(95;0.00092)		Epithelial(56;1.1e-06)|all cancers(55;8.07e-06)	GBM - Glioblastoma multiforme(265;0.0106)		AGCTTCACAGCCTTTGACAGA	0.537																																						uc001vwt.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(283-285)GCT>CCT		tetratricopeptide repeat domain 5							133.0	130.0	131.0					14																	20768879		2203	4300	6503	SO:0001583	missense	91875				DNA repair	cytoplasm|nucleus	binding	g.chr14:20768879C>G	BC008647	CCDS9546.1	14q11.2	2013-01-11			ENSG00000136319	ENSG00000136319		"""Tetratricopeptide (TTC) repeat domain containing"""	19274	protein-coding gene	gene with protein product						11511361	Standard	NM_138376		Approved	Strap	uc001vwt.3	Q8N0Z6	OTTHUMG00000029506	ENST00000258821.3:c.283G>C	14.37:g.20768879C>G	ENSP00000258821:p.Ala95Pro					TTC5_uc001vwu.2_5'UTR	p.A95P	NM_138376	NP_612385	Q8N0Z6	TTC5_HUMAN	Epithelial(56;1.1e-06)|all cancers(55;8.07e-06)	GBM - Glioblastoma multiforme(265;0.0106)	3	340	-	all_cancers(95;0.00092)		95			TPR 1.		A8MQ18|Q96HF9	Missense_Mutation	SNP	ENST00000258821.3	37	c.283G>C	CCDS9546.1	.	.	.	.	.	.	.	.	.	.	C	25.2	4.613152	0.87359	.	.	ENSG00000136319	ENST00000258821	T	0.74632	-0.86	5.16	5.16	0.70880	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.051695	0.85682	D	0.000000	D	0.92593	0.7647	H	0.99555	4.625	0.58432	D	0.999999	D	0.76494	0.999	D	0.78314	0.991	D	0.95603	0.8665	10	0.87932	D	0	.	17.5864	0.87982	0.0:1.0:0.0:0.0	.	95	Q8N0Z6	TTC5_HUMAN	P	95	ENSP00000258821:A95P	ENSP00000258821:A95P	A	-	1	0	TTC5	19838719	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.787000	0.62432	2.690000	0.91761	0.655000	0.94253	GCT		PASS	0.537	TTC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073529.4	NM_138376		83	168	83	168	---	---	---	---
TEP1	7011	broad.mit.edu	37	14	20845477	20845477	+	Missense_Mutation	SNP	C	C	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr14:20845477C>T	ENST00000262715.5	-	41	6090	c.6050G>A	c.(6049-6051)gGa>gAa	p.G2017E	TEP1_ENST00000556935.1_Missense_Mutation_p.G1909E|TEP1_ENST00000545983.1_Missense_Mutation_p.G355E	NM_007110.4	NP_009041.2	Q99973	TEP1_HUMAN	telomerase-associated protein 1	2017					RNA-dependent DNA replication (GO:0006278)|telomere maintenance via recombination (GO:0000722)	chromosome, telomeric region (GO:0000781)|cytoplasm (GO:0005737)|nuclear matrix (GO:0016363)|ribonucleoprotein complex (GO:0030529)|telomerase holoenzyme complex (GO:0005697)	ATP binding (GO:0005524)|RNA binding (GO:0003723)	p.G2017E(1)		NS(4)|breast(1)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(48)|ovary(7)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	96	all_cancers(95;0.00123)	all_lung(585;0.235)	Epithelial(56;7.42e-08)|all cancers(55;6.46e-07)	GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233)		AGTGGCCAGTCCTAGCACAGG	0.502																																						uc001vxe.2																			1	Substitution - Missense(1)		lung(1)	ovary(5)	5						c.(6049-6051)GGA>GAA		telomerase-associated protein 1							35.0	36.0	35.0					14																	20845477		2203	4300	6503	SO:0001583	missense	7011				telomere maintenance via recombination	chromosome, telomeric region|cytoplasm|nuclear matrix|soluble fraction|telomerase holoenzyme complex	ATP binding|RNA binding	g.chr14:20845477C>T		CCDS9548.1	14q11.2	2013-01-10			ENSG00000129566	ENSG00000129566		"""WD repeat domain containing"""	11726	protein-coding gene	gene with protein product	"""TROVE domain family, member 1"""	601686				9403057	Standard	NM_007110		Approved	TP1, TLP1, VAULT2, p240, TROVE1	uc001vxe.3	Q99973	OTTHUMG00000029515	ENST00000262715.5:c.6050G>A	14.37:g.20845477C>T	ENSP00000262715:p.Gly2017Glu					TEP1_uc010ahk.2_Missense_Mutation_p.G1360E|TEP1_uc010tlf.1_RNA|TEP1_uc010tlg.1_Missense_Mutation_p.G1909E|TEP1_uc010tlh.1_Missense_Mutation_p.G355E	p.G2017E	NM_007110	NP_009041	Q99973	TEP1_HUMAN	Epithelial(56;7.42e-08)|all cancers(55;6.46e-07)	GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233)	41	6090	-	all_cancers(95;0.00123)	all_lung(585;0.235)	2017			WD 10.		A0AUV9	Missense_Mutation	SNP	ENST00000262715.5	37	c.6050G>A	CCDS9548.1	.	.	.	.	.	.	.	.	.	.	C	18.36	3.606815	0.66558	.	.	ENSG00000129566	ENST00000262715;ENST00000359243;ENST00000556935;ENST00000545983	T;T;T	0.71341	0.85;-0.56;1.24	4.8	2.93	0.34026	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.199810	0.39985	N	0.001219	D	0.82472	0.5044	M	0.79258	2.445	0.36267	D	0.854905	D;D;D;D	0.89917	0.999;0.979;1.0;0.964	D;P;D;P	0.97110	0.986;0.876;1.0;0.861	D	0.86025	0.1509	10	0.56958	D	0.05	-2.6061	12.5438	0.56186	0.0:0.6798:0.3202:0.0	.	355;1909;1360;2017	B4E0B6;G3V5X7;G3V2A4;Q99973	.;.;.;TEP1_HUMAN	E	2017;2017;1909;355	ENSP00000262715:G2017E;ENSP00000452574:G1909E;ENSP00000438849:G355E	ENSP00000262715:G2017E	G	-	2	0	TEP1	19915317	0.954000	0.32549	0.996000	0.52242	0.986000	0.74619	2.347000	0.44036	0.598000	0.29829	0.563000	0.77884	GGA		PASS	0.502	TEP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073563.2	NM_007110		13	43	13	43	---	---	---	---
SLC39A2	29986	broad.mit.edu	37	14	21469569	21469569	+	Missense_Mutation	SNP	G	G	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr14:21469569G>T	ENST00000298681.4	+	4	918	c.761G>T	c.(760-762)cGg>cTg	p.R254L	SLC39A2_ENST00000554422.1_3'UTR|RP11-84C10.4_ENST00000557335.1_RNA	NM_014579.3	NP_055394.2	Q9NP94	S39A2_HUMAN	solute carrier family 39 (zinc transporter), member 2	254					transmembrane transport (GO:0055085)|zinc ion transmembrane transport (GO:0071577)|zinc ion transport (GO:0006829)	cytoplasmic membrane-bounded vesicle (GO:0016023)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	zinc ion transmembrane transporter activity (GO:0005385)	p.R254L(1)		breast(2)|central_nervous_system(1)|large_intestine(4)|lung(4)|ovary(2)|upper_aerodigestive_tract(1)	14	all_cancers(95;0.00267)		OV - Ovarian serous cystadenocarcinoma(11;1.34e-10)|Epithelial(56;1.57e-08)|all cancers(55;7.45e-08)	GBM - Glioblastoma multiforme(265;0.0187)		GAAGGAGGGCGGGGCTTAGCC	0.572																																						uc001vyr.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|central_nervous_system(1)	3						c.(760-762)CGG>CTG		solute carrier family 39 (zinc transporter),							100.0	104.0	103.0					14																	21469569		2203	4300	6503	SO:0001583	missense	29986					cytoplasmic membrane-bounded vesicle|integral to plasma membrane	zinc ion transmembrane transporter activity	g.chr14:21469569G>T	AF186081	CCDS9563.1, CCDS58303.1	14q11.1	2013-05-22			ENSG00000165794	ENSG00000165794		"""Solute carriers"""	17127	protein-coding gene	gene with protein product		612166				10681536, 7751801	Standard	NM_014579		Approved	ZIP2	uc001vyr.3	Q9NP94	OTTHUMG00000029616	ENST00000298681.4:c.761G>T	14.37:g.21469569G>T	ENSP00000298681:p.Arg254Leu					SLC39A2_uc001vys.2_Missense_Mutation_p.R155L	p.R254L	NM_014579	NP_055394	Q9NP94	S39A2_HUMAN	OV - Ovarian serous cystadenocarcinoma(11;1.34e-10)|Epithelial(56;1.57e-08)|all cancers(55;7.45e-08)	GBM - Glioblastoma multiforme(265;0.0187)	4	948	+	all_cancers(95;0.00267)		254			Extracellular (Potential).		B2RC76|G3V5X2|Q4QQJ1|Q4V9S4|Q96JT6|Q9UD20	Missense_Mutation	SNP	ENST00000298681.4	37	c.761G>T	CCDS9563.1	.	.	.	.	.	.	.	.	.	.	G	4.871	0.161893	0.09287	.	.	ENSG00000165794	ENST00000298681	T	0.47528	0.84	5.8	-4.81	0.03180	.	1.011940	0.07933	N	0.977870	T	0.38268	0.1034	L	0.34521	1.04	0.09310	N	1	B	0.22480	0.07	B	0.32211	0.142	T	0.39781	-0.9597	10	0.27082	T	0.32	-0.0097	14.0977	0.65034	0.7952:0.0:0.2048:0.0	.	254	Q9NP94	S39A2_HUMAN	L	254	ENSP00000298681:R254L	ENSP00000298681:R254L	R	+	2	0	SLC39A2	20539409	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	0.629000	0.24538	-1.488000	0.01847	-1.595000	0.00837	CGG		PASS	0.572	SLC39A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073829.2	NM_014579		45	108	45	108	---	---	---	---
SUPT16H	11198	broad.mit.edu	37	14	21831008	21831008	+	Missense_Mutation	SNP	G	G	C			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr14:21831008G>C	ENST00000216297.2	-	14	1948	c.1610C>G	c.(1609-1611)aCt>aGt	p.T537S		NM_007192.3	NP_009123.1	Q9Y5B9	SP16H_HUMAN	suppressor of Ty 16 homolog (S. cerevisiae)	537					DNA repair (GO:0006281)|DNA replication (GO:0006260)|gene expression (GO:0010467)|nucleosome disassembly (GO:0006337)|positive regulation of DNA-templated transcription, elongation (GO:0032786)|positive regulation of viral transcription (GO:0050434)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	chromosome (GO:0005694)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)	p.T537S(1)		breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27	all_cancers(95;0.00115)		Epithelial(56;1.62e-06)|all cancers(55;1.49e-05)	GBM - Glioblastoma multiforme(265;0.0159)		CATTATTACAGTCTCATATTT	0.408																																						uc001wao.2																			1	Substitution - Missense(1)		lung(1)		0						c.(1609-1611)ACT>AGT		chromatin-specific transcription elongation							162.0	146.0	152.0					14																	21831008		2203	4300	6503	SO:0001583	missense	11198				DNA repair|DNA replication|nucleosome disassembly|positive regulation of transcription elongation, DNA-dependent|positive regulation of viral transcription|transcription elongation from RNA polymerase II promoter|viral reproduction	chromosome|nucleoplasm	GTP binding	g.chr14:21831008G>C	AF152961	CCDS9569.1	14q11.1	2008-08-13	2001-11-28		ENSG00000092201	ENSG00000092201			11465	protein-coding gene	gene with protein product	"""facilitates chromatin remodeling 140 kDa subunit"""	605012	"""suppressor of Ty (S.cerevisiae) 16 homolog"""			9489704, 11239457	Standard	NM_007192		Approved	FACT, FACTP140, SPT16/CDC68, FLJ14010, FLJ10857, CDC68	uc001wao.2	Q9Y5B9	OTTHUMG00000029685	ENST00000216297.2:c.1610C>G	14.37:g.21831008G>C	ENSP00000216297:p.Thr537Ser						p.T537S	NM_007192	NP_009123	Q9Y5B9	SP16H_HUMAN	Epithelial(56;1.62e-06)|all cancers(55;1.49e-05)	GBM - Glioblastoma multiforme(265;0.0159)	14	1949	-	all_cancers(95;0.00115)		537					Q6GMT8|Q6P2F1|Q6PJM1|Q9NRX0	Missense_Mutation	SNP	ENST00000216297.2	37	c.1610C>G	CCDS9569.1	.	.	.	.	.	.	.	.	.	.	G	16.70	3.195639	0.58126	.	.	ENSG00000092201	ENST00000216297	.	.	.	5.76	5.76	0.90799	FACT complex subunit Spt16p/Cdc68p (1);	0.000000	0.85682	D	0.000000	T	0.37544	0.1007	N	0.16862	0.45	0.80722	D	1	P	0.36599	0.56	B	0.34489	0.184	T	0.17258	-1.0375	9	0.15499	T	0.54	-15.0884	18.7425	0.91779	0.0:0.0:1.0:0.0	.	537	Q9Y5B9	SP16H_HUMAN	S	537	.	ENSP00000216297:T537S	T	-	2	0	SUPT16H	20900848	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.011000	0.76359	2.721000	0.93114	0.655000	0.94253	ACT		PASS	0.408	SUPT16H-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000074025.2			71	127	71	127	---	---	---	---
OR10G2	26534	broad.mit.edu	37	14	22102631	22102631	+	Missense_Mutation	SNP	A	A	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr14:22102631A>T	ENST00000542433.1	-	1	465	c.368T>A	c.(367-369)aTg>aAg	p.M123K		NM_001005466.1	NP_001005466.1	Q8NGC3	O10G2_HUMAN	olfactory receptor, family 10, subfamily G, member 2	123						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.M123K(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)		GTCATAGGCCATCAAGGTGTA	0.527																																						uc010tmc.1																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(367-369)ATG>AAG		olfactory receptor, family 10, subfamily G,							38.0	43.0	41.0					14																	22102631		2203	4294	6497	SO:0001583	missense	26534				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:22102631A>T		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.368T>A	14.37:g.22102631A>T	ENSP00000445383:p.Met123Lys						p.M123K	NM_001005466	NP_001005466	Q8NGC3	O10G2_HUMAN		GBM - Glioblastoma multiforme(265;0.0142)	1	368	-	all_cancers(95;0.00113)	Acute lymphoblastic leukemia(2;0.0279)	123			Helical; Name=3; (Potential).		B2RPD0	Missense_Mutation	SNP	ENST00000542433.1	37	c.368T>A	CCDS32047.1	.	.	.	.	.	.	.	.	.	.	A	17.55	3.416372	0.62511	.	.	ENSG00000255582	ENST00000542433	T	0.47869	0.83	3.64	3.64	0.41730	GPCR, rhodopsin-like superfamily (1);	0.000000	0.52532	D	0.000066	T	0.77935	0.4205	H	0.98466	4.24	0.43300	D	0.995298	D	0.63046	0.992	D	0.71184	0.972	D	0.83948	0.0315	10	0.87932	D	0	-20.3171	10.2583	0.43410	1.0:0.0:0.0:0.0	.	123	Q8NGC3	O10G2_HUMAN	K	123	ENSP00000445383:M123K	ENSP00000445383:M123K	M	-	2	0	OR10G2	21172471	1.000000	0.71417	1.000000	0.80357	0.906000	0.53458	8.825000	0.92029	1.514000	0.48869	0.460000	0.39030	ATG		PASS	0.527	OR10G2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401525.1			11	32	11	32	---	---	---	---
MYH6	4624	broad.mit.edu	37	14	23871779	23871779	+	Silent	SNP	C	C	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr14:23871779C>T	ENST00000356287.3	-	11	1064	c.1035G>A	c.(1033-1035)gaG>gaA	p.E345E	MYH6_ENST00000405093.3_Silent_p.E345E			P13533	MYH6_HUMAN	myosin, heavy chain 6, cardiac muscle, alpha	345	Myosin motor.				adult heart development (GO:0007512)|ATP catabolic process (GO:0006200)|atrial cardiac muscle tissue morphogenesis (GO:0055009)|BMP signaling pathway (GO:0030509)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle fiber development (GO:0048739)|in utero embryonic development (GO:0001701)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|myofibril assembly (GO:0030239)|regulation of ATPase activity (GO:0043462)|regulation of blood pressure (GO:0008217)|regulation of heart contraction (GO:0008016)|regulation of heart growth (GO:0060420)|regulation of heart rate (GO:0002027)|regulation of the force of heart contraction (GO:0002026)|sarcomere organization (GO:0045214)|striated muscle contraction (GO:0006941)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|visceral muscle development (GO:0007522)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin complex (GO:0016459)|myosin filament (GO:0032982)|nucleus (GO:0005634)|sarcomere (GO:0030017)|stress fiber (GO:0001725)|Z disc (GO:0030018)	actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)|protein kinase binding (GO:0019901)	p.E345E(1)		breast(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(16)|liver(1)|lung(60)|ovary(2)|pancreas(3)|prostate(6)|skin(6)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	119	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441)		CAGCTTTCTCCTCTGAAGTGA	0.612																																						uc001wjv.2																			1	Substitution - coding silent(1)		lung(1)	pancreas(2)|ovary(1)|skin(1)	4						c.(1033-1035)GAG>GAA		myosin heavy chain 6							105.0	99.0	101.0					14																	23871779		2203	4300	6503	SO:0001819	synonymous_variant	4624				adult heart development|atrial cardiac muscle tissue morphogenesis|cardiac muscle fiber development|in utero embryonic development|muscle filament sliding|regulation of ATPase activity|regulation of blood pressure|regulation of heart rate|regulation of the force of heart contraction|sarcomere organization|striated muscle contraction|ventricular cardiac muscle tissue morphogenesis|visceral muscle development	cytosol|focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|protein kinase binding|structural constituent of muscle	g.chr14:23871779C>T	D00943	CCDS9600.1	14q11.2-q13	2014-09-17	2008-08-01		ENSG00000197616	ENSG00000197616		"""Myosins / Myosin superfamily : Class II"""	7576	protein-coding gene	gene with protein product	"""cardiomyopathy, hypertrophic 1"""	160710	"""myosin, heavy polypeptide 6, cardiac muscle, alpha (cardiomyopathy, hypertrophic 1)"""			2144212	Standard	NM_002471		Approved		uc001wjv.3	P13533	OTTHUMG00000028753	ENST00000356287.3:c.1035G>A	14.37:g.23871779C>T						MYH6_uc010akp.1_Silent_p.E345E	p.E345E	NM_002471	NP_002462	P13533	MYH6_HUMAN		GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441)	12	1102	-	all_cancers(95;2.54e-05)		345			Myosin head-like.		A2RTX1|D9YZU2|Q13943|Q14906|Q14907	Silent	SNP	ENST00000356287.3	37	c.1035G>A	CCDS9600.1																																																																																				PASS	0.612	MYH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071796.3			53	198	53	198	---	---	---	---
DHRS2	10202	broad.mit.edu	37	14	24112405	24112405	+	Missense_Mutation	SNP	G	G	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr14:24112405G>T	ENST00000250383.6	+	5	941	c.465G>T	c.(463-465)caG>caT	p.Q155H	DHRS2_ENST00000344777.7_Missense_Mutation_p.Q155H	NM_005794.3	NP_005785.1	Q13268	DHRS2_HUMAN	dehydrogenase/reductase (SDR family) member 2	155					C21-steroid hormone metabolic process (GO:0008207)|cellular response to oxidative stress (GO:0034599)|myeloid dendritic cell differentiation (GO:0043011)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|oxidation-reduction process (GO:0055114)|response to toxic substance (GO:0009636)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)|nucleus (GO:0005634)	carbonyl reductase (NADPH) activity (GO:0004090)	p.Q155H(2)		endometrium(1)|large_intestine(5)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	14				GBM - Glioblastoma multiforme(265;0.00659)		TGCTGAGCCAGTTGCTGCCCT	0.587																																						uc001wkt.3																			2	Substitution - Missense(2)		lung(2)	large_intestine(1)|ovary(1)	2						c.(463-465)CAG>CAT		dehydrogenase/reductase member 2 isoform 1							172.0	165.0	167.0					14																	24112405		2203	4300	6503	SO:0001583	missense	10202				C21-steroid hormone metabolic process|cellular response to oxidative stress|myeloid dendritic cell differentiation|negative regulation of apoptosis|negative regulation of cell proliferation|response to toxin	mitochondrion|nuclear envelope	binding|carbonyl reductase (NADPH) activity	g.chr14:24112405G>T		CCDS9604.1, CCDS41927.1	14q11.2	2011-09-14			ENSG00000100867	ENSG00000100867		"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 1"""	18349	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 25C, member 1"""	615194				7556196, 11944995, 16685466, 19027726	Standard	NM_182908		Approved	HEP27, SDR25C1	uc001wkt.4	Q13268	OTTHUMG00000028771	ENST00000250383.6:c.465G>T	14.37:g.24112405G>T	ENSP00000250383:p.Gln155His					DHRS2_uc010aku.1_3'UTR|DHRS2_uc001wku.3_Missense_Mutation_p.Q155H|DHRS2_uc010akv.2_RNA|DHRS2_uc001wkv.3_Missense_Mutation_p.Q155H	p.Q155H	NM_182908	NP_878912	Q13268	DHRS2_HUMAN		GBM - Glioblastoma multiforme(265;0.00659)	5	912	+			133					D3DS54|Q53GS4|Q7Z789|Q9H2R2	Missense_Mutation	SNP	ENST00000250383.6	37	c.465G>T	CCDS9604.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	12.28|12.28	1.891110|1.891110	0.33348|0.33348	.|.	.|.	ENSG00000100867|ENSG00000100867	ENST00000432832;ENST00000250383;ENST00000344777;ENST00000553600|ENST00000557535	T;T;T;T|.	0.37752|.	1.18;1.18;1.18;1.18|.	4.45|4.45	4.45|4.45	0.53987|0.53987	.|.	0.404829|.	0.24623|.	N|.	0.036950|.	T|T	0.17066|0.17066	0.0410|0.0410	N|N	0.03084|0.03084	-0.415|-0.415	0.24848|0.24848	N|N	0.992422|0.992422	P;D;B|.	0.76494|.	0.946;0.999;0.064|.	P;D;B|.	0.67382|.	0.852;0.951;0.039|.	T|T	0.11743|0.11743	-1.0575|-1.0575	10|5	0.20046|.	T|.	0.44|.	.|.	10.0804|10.0804	0.42386|0.42386	0.0:0.0:0.7995:0.2005|0.0:0.0:0.7995:0.2005	.|.	155;155;133|.	C9JZP6;D3DS54;Q13268-2|.	.;.;.|.	H|F	155;155;155;55|71	ENSP00000401213:Q155H;ENSP00000250383:Q155H;ENSP00000344674:Q155H;ENSP00000451485:Q55H|.	ENSP00000250383:Q155H|.	Q|V	+|+	3|1	2|0	DHRS2|DHRS2	23182245|23182245	0.998000|0.998000	0.40836|0.40836	0.997000|0.997000	0.53966|0.53966	0.687000|0.687000	0.40016|0.40016	0.653000|0.653000	0.24902|0.24902	2.457000|2.457000	0.83068|0.83068	0.563000|0.563000	0.77884|0.77884	CAG|GTT		PASS	0.587	DHRS2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000071842.2	NM_182908		51	275	51	275	---	---	---	---
IPO4	79711	broad.mit.edu	37	14	24656300	24656300	+	Silent	SNP	G	G	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr14:24656300G>A	ENST00000354464.6	-	7	821	c.645C>T	c.(643-645)ccC>ccT	p.P215P	RP11-468E2.2_ENST00000561419.1_3'UTR	NM_024658.3	NP_078934.3	Q8TEX9	IPO4_HUMAN	importin 4	215					DNA replication-dependent nucleosome assembly (GO:0006335)|DNA replication-independent nucleosome assembly (GO:0006336)|intracellular protein transport (GO:0006886)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear chromatin (GO:0000790)|protein complex (GO:0043234)		p.P215P(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(10)|ovary(1)|stomach(2)|urinary_tract(1)	33				GBM - Glioblastoma multiforme(265;0.0087)		CCTCATCTATGGGGATCAGAG	0.547																																						uc001wmv.1																			1	Substitution - coding silent(1)		lung(1)	kidney(1)	1						c.(643-645)CCC>CCT		importin 4							249.0	256.0	254.0					14																	24656300		2175	4282	6457	SO:0001819	synonymous_variant	79711				intracellular protein transport	cytoplasm|nucleus	protein binding|protein transporter activity	g.chr14:24656300G>A	AF411122	CCDS9616.1	14q11.2	2003-03-10			ENSG00000196497	ENSG00000196497		"""Importins"""	19426	protein-coding gene	gene with protein product						11823430	Standard	NR_051979		Approved	Imp4, FLJ23338	uc001wmv.1	Q8TEX9	OTTHUMG00000028801	ENST00000354464.6:c.645C>T	14.37:g.24656300G>A						IPO4_uc001wmt.1_5'Flank|IPO4_uc001wmu.2_5'UTR|IPO4_uc001wmx.1_Silent_p.P79P|IPO4_uc001wmy.1_Silent_p.P79P|IPO4_uc010tnz.1_RNA|IPO4_uc001wmw.1_RNA|IPO4_uc001wmz.1_Silent_p.P215P	p.P215P	NM_024658	NP_078934	Q8TEX9	IPO4_HUMAN		GBM - Glioblastoma multiforme(265;0.0087)	7	776	-			215					B2RN95|Q2NL96|Q86TZ9|Q8NCG8|Q96SJ3|Q9BTI4|Q9H5L0	Silent	SNP	ENST00000354464.6	37	c.645C>T	CCDS9616.1																																																																																				PASS	0.547	IPO4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071931.4	NM_024658		102	344	102	344	---	---	---	---
TGM1	7051	broad.mit.edu	37	14	24731488	24731488	+	Missense_Mutation	SNP	G	G	C			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr14:24731488G>C	ENST00000206765.6	-	2	194	c.71C>G	c.(70-72)tCt>tGt	p.S24C	TGM1_ENST00000544573.1_De_novo_Start_InFrame	NM_000359.2	NP_000350.1	P22735	TGM1_HUMAN	transglutaminase 1	24	Membrane anchorage region.				cell envelope organization (GO:0043163)|cellular protein modification process (GO:0006464)|keratinization (GO:0031424)|keratinocyte differentiation (GO:0030216)|organ morphogenesis (GO:0009887)|peptide cross-linking (GO:0018149)	cell-cell adherens junction (GO:0005913)|cornified envelope (GO:0001533)|extracellular vesicular exosome (GO:0070062)|intrinsic component of membrane (GO:0031224)	metal ion binding (GO:0046872)|protein-glutamine gamma-glutamyltransferase activity (GO:0003810)	p.S24C(1)		breast(1)|central_nervous_system(3)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)	24				GBM - Glioblastoma multiforme(265;0.0186)	L-Glutamine(DB00130)	TGGCTCTGGAGATGGCGTGGT	0.637																																						uc001wod.2																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(2)|ovary(1)	3						c.(70-72)TCT>TGT		transglutaminase 1	L-Glutamine(DB00130)						58.0	51.0	54.0					14																	24731488		2203	4300	6503	SO:0001583	missense	7051				cell envelope organization|keratinization|peptide cross-linking	cornified envelope|intrinsic to membrane	acyltransferase activity|metal ion binding|protein binding|protein-glutamine gamma-glutamyltransferase activity	g.chr14:24731488G>C	D90287	CCDS9622.1	14q11.2	2013-05-02	2013-05-02		ENSG00000092295	ENSG00000092295	2.3.2.13	"""Transglutaminases"""	11777	protein-coding gene	gene with protein product	"""K polypeptide epidermal type I, protein-glutamine-gamma-glutamyltransferase"""	190195	"""transglutaminase 1 (K polypeptide epidermal type I, protein-glutamine-gamma-glutamyltransferase)"""	ICR2		11390390	Standard	NM_000359		Approved	TGASE, TGK, LI, LI1	uc001wod.3	P22735	OTTHUMG00000029329	ENST00000206765.6:c.71C>G	14.37:g.24731488G>C	ENSP00000206765:p.Ser24Cys					TGM1_uc010tog.1_Translation_Start_Site	p.S24C	NM_000359	NP_000350	P22735	TGM1_HUMAN		GBM - Glioblastoma multiforme(265;0.0186)	2	195	-			24			Membrane anchorage region.		B4DWR7|Q197M4	Missense_Mutation	SNP	ENST00000206765.6	37	c.71C>G	CCDS9622.1	.	.	.	.	.	.	.	.	.	.	G	8.120	0.780707	0.16120	.	.	ENSG00000092295	ENST00000206765	D	0.81821	-1.54	4.55	4.55	0.56014	.	1.545970	0.03878	N	0.276725	D	0.85039	0.5606	N	0.24115	0.695	0.80722	D	1	D	0.76494	0.999	D	0.74674	0.984	T	0.74816	-0.3536	10	0.72032	D	0.01	-2.6848	12.6865	0.56949	0.0:0.0:1.0:0.0	.	24	P22735	TGM1_HUMAN	C	24	ENSP00000206765:S24C	ENSP00000206765:S24C	S	-	2	0	TGM1	23801328	0.992000	0.36948	0.043000	0.18650	0.027000	0.11550	3.171000	0.50824	2.369000	0.80426	0.561000	0.74099	TCT		PASS	0.637	TGM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073160.6	NM_000359		25	60	25	60	---	---	---	---
NOP9	161424	broad.mit.edu	37	14	24772360	24772360	+	Silent	SNP	G	G	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr14:24772360G>T	ENST00000267425.3	+	6	1317	c.1224G>T	c.(1222-1224)ctG>ctT	p.L408L	NOP9_ENST00000396802.3_Silent_p.L408L	NM_174913.1	NP_777573.1	Q86U38	NOP9_HUMAN	NOP9 nucleolar protein	408							poly(A) RNA binding (GO:0044822)	p.L408L(1)									TCATTGCCCTGGTGGGGGCCT	0.557																																						uc001wol.1																			1	Substitution - coding silent(1)		lung(1)	breast(2)|central_nervous_system(1)|skin(1)	4						c.(1222-1224)CTG>CTT		hypothetical protein LOC161424							71.0	71.0	71.0					14																	24772360		2203	4300	6503	SO:0001819	synonymous_variant	161424						RNA binding	g.chr14:24772360G>T		CCDS9624.1, CCDS66616.1	14q12	2012-12-10	2012-12-10	2012-06-06	ENSG00000196943	ENSG00000196943			19826	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 21"", ""NOP9 nucleolar protein homolog (yeast)"""	C14orf21		21653694	Standard	XM_005267385		Approved		uc001wol.1	Q86U38	OTTHUMG00000029342	ENST00000267425.3:c.1224G>T	14.37:g.24772360G>T						C14orf21_uc001wom.1_5'UTR	p.L408L	NM_174913	NP_777573	Q86U38	CN021_HUMAN		GBM - Glioblastoma multiforme(265;0.0185)	6	1287	+			408					A8MY76|Q8IVF0|Q8TBS6	Silent	SNP	ENST00000267425.3	37	c.1224G>T	CCDS9624.1	.	.	.	.	.	.	.	.	.	.	G	8.936	0.964651	0.18583	.	.	ENSG00000196943	ENST00000557362	.	.	.	5.16	1.04	0.20106	.	.	.	.	.	T	0.59018	0.2163	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.52734	-0.8536	4	.	.	.	-4.6704	11.0933	0.48130	0.0738:0.4995:0.4267:0.0	.	.	.	.	L	34	.	.	W	+	2	0	C14orf21	23842200	0.994000	0.37717	0.998000	0.56505	0.958000	0.62258	-0.037000	0.12164	0.025000	0.15241	-0.302000	0.09304	TGG		PASS	0.557	NOP9-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073186.2			32	97	32	97	---	---	---	---
CBLN3	643866	broad.mit.edu	37	14	24898088	24898088	+	Missense_Mutation	SNP	C	C	A	rs375332763		TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr14:24898088C>A	ENST00000267406.6	-	1	643	c.173G>T	c.(172-174)gGg>gTg	p.G58V	CBLN3_ENST00000555436.1_Intron|KHNYN_ENST00000251343.5_5'Flank|KHNYN_ENST00000553935.1_5'Flank|KHNYN_ENST00000556842.1_5'Flank	NM_001039771.2	NP_001034860.1	Q6UW01	CBLN3_HUMAN	cerebellin 3 precursor	58						cell junction (GO:0030054)|endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|synapse (GO:0045202)		p.G58V(1)		central_nervous_system(1)|lung(3)	4				GBM - Glioblastoma multiforme(265;0.00159)		TCCCCCGGGCCCCCCTGCAGC	0.726																																						uc001wpg.3																			1	Substitution - Missense(1)	p.G58G(1)	lung(1)	central_nervous_system(1)	1						c.(172-174)GGG>GTG		cerebellin 3 precursor		C	VAL/GLY	0,4400		0,0,2200	11.0	13.0	12.0		173	4.8	0.8	14		12	1,8571		0,1,4285	no	missense	CBLN3	NM_001039771.2	109	0,1,6485	AA,AC,CC		0.0117,0.0,0.0077	probably-damaging	58/206	24898088	1,12971	2200	4286	6486	SO:0001583	missense	643866					cell junction|extracellular region|synapse		g.chr14:24898088C>A	AY359070	CCDS32057.1	14q12	2006-12-13				ENSG00000139899			20146	protein-coding gene	gene with protein product		612978				12975309	Standard	NM_001039771		Approved		uc001wpg.4	Q6UW01		ENST00000267406.6:c.173G>T	14.37:g.24898088C>A	ENSP00000267406:p.Gly58Val					KHNYN_uc010tpc.1_5'Flank|KHNYN_uc001wph.3_5'Flank|KHNYN_uc010alw.2_5'Flank	p.G58V	NM_001039771	NP_001034860	Q6UW01	CBLN3_HUMAN		GBM - Glioblastoma multiforme(265;0.00159)	1	644	-			58						Missense_Mutation	SNP	ENST00000267406.6	37	c.173G>T	CCDS32057.1	.	.	.	.	.	.	.	.	.	.	C	15.16	2.750089	0.49257	0.0	1.17E-4	ENSG00000139899	ENST00000267406	D	0.84370	-1.84	5.7	4.8	0.61643	.	0.138683	0.34338	N	0.004059	D	0.88880	0.6557	L	0.46157	1.445	0.42425	D	0.992656	D	0.76494	0.999	D	0.69142	0.962	D	0.89867	0.4020	10	0.87932	D	0	-17.4938	12.9955	0.58644	0.0:0.689:0.311:0.0	.	58	Q6UW01	CBLN3_HUMAN	V	58	ENSP00000267406:G58V	ENSP00000267406:G58V	G	-	2	0	CBLN3	23967928	0.027000	0.19231	0.761000	0.31378	0.505000	0.33919	1.439000	0.35013	1.381000	0.46364	0.563000	0.77884	GGG		PASS	0.726	CBLN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412943.1	XM_115232		5	15	5	15	---	---	---	---
ARHGAP5	394	broad.mit.edu	37	14	32560672	32560672	+	Missense_Mutation	SNP	G	G	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr14:32560672G>T	ENST00000345122.3	+	2	1112	c.797G>T	c.(796-798)aGa>aTa	p.R266I	ARHGAP5_ENST00000432921.1_Missense_Mutation_p.R266I|ARHGAP5_ENST00000556611.1_Missense_Mutation_p.R266I|ARHGAP5_ENST00000433497.1_Intron|ARHGAP5_ENST00000539826.2_Missense_Mutation_p.R266I|ARHGAP5_ENST00000396582.2_Intron	NM_001030055.1	NP_001025226.1	Q13017	RHG05_HUMAN	Rho GTPase activating protein 5	266					cell adhesion (GO:0007155)|GTP catabolic process (GO:0006184)|mammary gland development (GO:0030879)|positive regulation of cell migration (GO:0030335)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of cell size (GO:0008361)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|Rho GTPase activator activity (GO:0005100)|SH2 domain binding (GO:0042169)	p.R266I(1)		NS(2)|breast(10)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(12)|ovary(4)|skin(1)|stomach(1)|urinary_tract(4)	55	Hepatocellular(127;0.0604)|Prostate(35;0.15)|Breast(36;0.186)		LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.00714)|BRCA - Breast invasive adenocarcinoma(188;0.0952)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00566)		AAAACACAGAGACAACTTGTT	0.328																																					NSCLC(9;77 350 3443 29227 41353)	uc001wrl.2																			1	Substitution - Missense(1)		lung(1)	ovary(4)|central_nervous_system(1)	5						c.(796-798)AGA>ATA		Rho GTPase activating protein 5 isoform b							119.0	136.0	130.0					14																	32560672		2203	4298	6501	SO:0001583	missense	394				cell adhesion|Rho protein signal transduction	cytosol|membrane	GTP binding|GTPase activity|Rho GTPase activator activity|SH2 domain binding	g.chr14:32560672G>T	U17032	CCDS32062.1, CCDS45095.1	14q12	2010-02-05						"""Rho GTPase activating proteins"""	675	protein-coding gene	gene with protein product		602680	"""growth factor independent 2"""	GFI2		8537347	Standard	XM_005267635		Approved	RhoGAP5, p190-B, p190BRhoGAP	uc001wrn.3	Q13017		ENST00000345122.3:c.797G>T	14.37:g.32560672G>T	ENSP00000371897:p.Arg266Ile					ARHGAP5_uc001wrm.2_Missense_Mutation_p.R266I|ARHGAP5_uc001wrn.2_Missense_Mutation_p.R266I|ARHGAP5_uc001wro.2_Intron|ARHGAP5_uc001wrp.2_Intron	p.R266I	NM_001173	NP_001025226	Q13017	RHG05_HUMAN	LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.00714)|BRCA - Breast invasive adenocarcinoma(188;0.0952)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00566)	2	1036	+	Hepatocellular(127;0.0604)|Prostate(35;0.15)|Breast(36;0.186)		266					A1L375|A1L376|A8KAA1|D3DS89|D3DS90|Q05BE8|Q05BU8|Q59ER0|Q6DHZ3	Missense_Mutation	SNP	ENST00000345122.3	37	c.797G>T	CCDS32062.1	.	.	.	.	.	.	.	.	.	.	G	15.46	2.841417	0.51057	.	.	ENSG00000100852	ENST00000556611;ENST00000539826;ENST00000345122;ENST00000432921	T;T;T;T	0.09911	2.93;2.93;2.93;2.93	5.53	5.53	0.82687	.	0.000000	0.85682	D	0.000000	T	0.28433	0.0703	L	0.47716	1.5	0.80722	D	1	D;D	0.69078	0.997;0.995	D;P	0.66847	0.947;0.885	T	0.00480	-1.1714	10	0.87932	D	0	.	19.4655	0.94935	0.0:0.0:1.0:0.0	.	266;266	Q13017-2;Q13017	.;RHG05_HUMAN	I	266	ENSP00000452222:R266I;ENSP00000441692:R266I;ENSP00000371897:R266I;ENSP00000393307:R266I	ENSP00000371897:R266I	R	+	2	0	ARHGAP5	31630423	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.062000	0.89475	2.589000	0.87451	0.563000	0.77884	AGA		PASS	0.328	ARHGAP5-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000409735.1	NM_001030055		76	246	76	246	---	---	---	---
AKAP6	9472	broad.mit.edu	37	14	33290637	33290637	+	Silent	SNP	G	G	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr14:33290637G>A	ENST00000280979.4	+	13	3788	c.3618G>A	c.(3616-3618)ttG>ttA	p.L1206L	AKAP6_ENST00000557272.1_Intron	NM_004274.4	NP_004265.3	Q13023	AKAP6_HUMAN	A kinase (PRKA) anchor protein 6	1206					action potential (GO:0001508)|cAMP-mediated signaling (GO:0019933)|cellular response to cAMP (GO:0071320)|cellular response to cytokine stimulus (GO:0071345)|negative regulation of cAMP biosynthetic process (GO:0030818)|positive regulation of calcineurin-NFAT signaling cascade (GO:0070886)|positive regulation of cell growth (GO:0030307)|positive regulation of cell growth involved in cardiac muscle cell development (GO:0061051)|positive regulation of delayed rectifier potassium channel activity (GO:1902261)|positive regulation of NFAT protein import into nucleus (GO:0051533)|positive regulation of potassium ion transmembrane transport (GO:1901381)|positive regulation of protein phosphatase type 2B activity (GO:0032514)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|positive regulation of ryanodine-sensitive calcium-release channel activity (GO:0060316)|protein targeting (GO:0006605)|regulation of membrane repolarization (GO:0060306)|regulation of protein kinase A signaling (GO:0010738)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)	calcium channel complex (GO:0034704)|caveola (GO:0005901)|cytoplasm (GO:0005737)|intercalated disc (GO:0014704)|junctional sarcoplasmic reticulum membrane (GO:0014701)|nuclear envelope (GO:0005635)|perinuclear region of cytoplasm (GO:0048471)|sarcoplasmic reticulum (GO:0016529)|T-tubule (GO:0030315)	adenylate cyclase binding (GO:0008179)|ion channel binding (GO:0044325)|protein anchor (GO:0043495)|protein complex scaffold (GO:0032947)|protein kinase A binding (GO:0051018)|protein kinase A regulatory subunit binding (GO:0034237)	p.L1206L(1)		NS(2)|breast(10)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(25)|lung(42)|ovary(5)|pancreas(2)|prostate(3)|skin(9)|urinary_tract(2)	122	Breast(36;0.0388)|Prostate(35;0.15)		LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116)	GBM - Glioblastoma multiforme(265;0.019)		ATCCTGGCTTGATGGACCTAA	0.373																																					Melanoma(49;821 1200 7288 13647 42351)	uc001wrq.2																			1	Substitution - coding silent(1)		lung(1)	breast(6)|ovary(5)|lung(4)|skin(3)|large_intestine(2)|pancreas(1)	21						c.(3616-3618)TTG>TTA		A-kinase anchor protein 6							92.0	86.0	88.0					14																	33290637		2203	4300	6503	SO:0001819	synonymous_variant	9472				protein targeting	calcium channel complex|nuclear membrane|sarcoplasmic reticulum	protein kinase A binding|receptor binding	g.chr14:33290637G>A	AB002309	CCDS9644.1	14q12	2008-08-11			ENSG00000151320	ENSG00000151320		"""A-kinase anchor proteins"""	376	protein-coding gene	gene with protein product	"""protein kinase A anchoring protein 6"""	604691				7721854, 9205841	Standard	NM_004274		Approved	KIAA0311, mAKAP, AKAP100, PRKA6, ADAP6	uc001wrq.3	Q13023	OTTHUMG00000140207	ENST00000280979.4:c.3618G>A	14.37:g.33290637G>A							p.L1206L	NM_004274	NP_004265	Q13023	AKAP6_HUMAN	LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116)	GBM - Glioblastoma multiforme(265;0.019)	13	3788	+	Breast(36;0.0388)|Prostate(35;0.15)		1206					A7E242|A7E2D4|O15028	Silent	SNP	ENST00000280979.4	37	c.3618G>A	CCDS9644.1																																																																																				PASS	0.373	AKAP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276617.2	NM_004274		30	112	30	112	---	---	---	---
NKX2-1	7080	broad.mit.edu	37	14	36987175	36987175	+	Missense_Mutation	SNP	C	C	G			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr14:36987175C>G	ENST00000518149.1	-	3	1029	c.424G>C	c.(424-426)Ggc>Cgc	p.G142R	NKX2-1_ENST00000522719.2_Missense_Mutation_p.G142R|NKX2-1-AS1_ENST00000521292.2_RNA|NKX2-1_ENST00000354822.5_Missense_Mutation_p.G172R|RP11-896J10.3_ENST00000521945.1_RNA|NKX2-1_ENST00000498187.2_Missense_Mutation_p.G142R			P43699	NKX21_HUMAN	NK2 homeobox 1	142					anatomical structure formation involved in morphogenesis (GO:0048646)|axon guidance (GO:0007411)|brain development (GO:0007420)|cerebral cortex cell migration (GO:0021795)|cerebral cortex GABAergic interneuron differentiation (GO:0021892)|Clara cell differentiation (GO:0060486)|developmental induction (GO:0031128)|endoderm development (GO:0007492)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|forebrain development (GO:0030900)|forebrain dorsal/ventral pattern formation (GO:0021798)|forebrain neuron fate commitment (GO:0021877)|globus pallidus development (GO:0021759)|hippocampus development (GO:0021766)|Leydig cell differentiation (GO:0033327)|locomotory behavior (GO:0007626)|lung development (GO:0030324)|lung saccule development (GO:0060430)|menarche (GO:0042696)|negative regulation of cell migration (GO:0030336)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|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 migration (GO:0001764)|oligodendrocyte differentiation (GO:0048709)|phospholipid metabolic process (GO:0006644)|pituitary gland development (GO:0021983)|positive regulation of circadian rhythm (GO:0042753)|positive regulation of gene expression (GO:0010628)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|response to hormone (GO:0009725)|rhythmic process (GO:0048511)|thyroid gland development (GO:0030878)|Type II pneumocyte differentiation (GO:0060510)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	core promoter binding (GO:0001047)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)	p.G142R(1)		large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(2)	7	all_cancers(3;4.47e-51)|Hepatocellular(127;0.158)|Esophageal squamous(585;0.164)|Breast(36;0.165)		Lung(8;1.8e-08)|LUAD - Lung adenocarcinoma(9;2.16e-07)|Epithelial(34;0.014)|all cancers(34;0.0366)|LUSC - Lung squamous cell carcinoma(13;0.132)	GBM - Glioblastoma multiforme(112;0.0171)		GAGCCCAGGCCGCCCATGCCG	0.706			A		NSCLC																																	uc001wtt.2				Dom	yes		14	14q13	7080	A	NK2 homeobox 1			E			NSCLC		1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(424-426)GGC>CGC		thyroid transcription factor 1 isoform 2							16.0	19.0	18.0					14																	36987175		2196	4283	6479	SO:0001583	missense	7080				epithelial tube branching involved in lung morphogenesis|globus pallidus development|negative regulation of cell migration|negative regulation of epithelial to mesenchymal transition|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|thyroid gland development		protein binding|transcription regulatory region DNA binding	g.chr14:36987175C>G		CCDS9659.1, CCDS41945.1	14q13.3	2012-03-09	2007-07-26	2007-07-26	ENSG00000136352	ENSG00000136352		"""Homeoboxes / ANTP class : NKL subclass"""	11825	protein-coding gene	gene with protein product		600635	"""benign chorea"", ""thyroid transcription factor 1"""	NKX2A, BCH, TITF1		1976511	Standard	NM_001079668		Approved	TTF-1, TTF1	uc001wtu.3	P43699	OTTHUMG00000140225	ENST00000518149.1:c.424G>C	14.37:g.36987175C>G	ENSP00000428341:p.Gly142Arg					SFTA3_uc001wts.2_Intron|NKX2-1_uc001wtu.2_Missense_Mutation_p.G172R|NKX2-1_uc001wtv.2_Missense_Mutation_p.G142R|uc001wtw.1_5'Flank	p.G142R	NM_003317	NP_003308	P43699	NKX21_HUMAN	Lung(8;1.8e-08)|LUAD - Lung adenocarcinoma(9;2.16e-07)|Epithelial(34;0.014)|all cancers(34;0.0366)|LUSC - Lung squamous cell carcinoma(13;0.132)	GBM - Glioblastoma multiforme(112;0.0171)	2	765	-	all_cancers(3;4.47e-51)|Hepatocellular(127;0.158)|Esophageal squamous(585;0.164)|Breast(36;0.165)		142					D3DSA3|O14954|O14955|Q7KZF6|Q9BRJ8	Missense_Mutation	SNP	ENST00000518149.1	37	c.424G>C	CCDS9659.1	.	.	.	.	.	.	.	.	.	.	C	17.48	3.399822	0.62177	.	.	ENSG00000136352	ENST00000354822;ENST00000498187;ENST00000518149;ENST00000522719	D;D;D;D	0.95724	-3.79;-3.79;-3.79;-3.79	4.51	4.51	0.55191	Homeodomain-like (1);	0.311975	0.34700	N	0.003754	D	0.92776	0.7703	L	0.54323	1.7	0.34286	D	0.68273	P;P	0.48998	0.918;0.866	B;B	0.43990	0.438;0.199	D	0.92983	0.6408	10	0.24483	T	0.36	.	9.3188	0.37950	0.0:0.8293:0.0:0.1707	.	172;142	P43699-3;P43699	.;NKX21_HUMAN	R	172;142;142;142	ENSP00000346879:G172R;ENSP00000429607:G142R;ENSP00000428341:G142R;ENSP00000429519:G142R	ENSP00000346879:G172R	G	-	1	0	NKX2-1	36056926	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.033000	0.41136	2.074000	0.62210	0.555000	0.69702	GGC		PASS	0.706	NKX2-1-004	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376225.2	NM_003317		6	16	6	16	---	---	---	---
LRFN5	145581	broad.mit.edu	37	14	42355819	42355819	+	5'UTR	SNP	C	C	A	rs549285312		TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr14:42355819C>A	ENST00000298119.4	+	0	1180				LRFN5_ENST00000554171.1_5'UTR|LRFN5_ENST00000554120.1_5'UTR	NM_152447.3	NP_689660.2	Q96NI6	LRFN5_HUMAN	leucine rich repeat and fibronectin type III domain containing 5							integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(67)|ovary(5)|pancreas(3)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(2)	120			LUAD - Lung adenocarcinoma(50;0.0223)|Lung(238;0.0728)	GBM - Glioblastoma multiforme(112;0.00847)		GCTCTTAAACCTGATCTACAA	0.338										HNSCC(30;0.082)			C|||	1	0.000199681	0.0008	0.0	5008	,	,		17369	0.0		0.0	False		,,,				2504	0.0					uc001wvm.2																			0				ovary(5)|pancreas(2)|central_nervous_system(1)	8						c.(-11--7)ACCTG>ACATG		leucine rich repeat and fibronectin type III							35.0	36.0	35.0					14																	42355819		2203	4300	6503	SO:0001623	5_prime_UTR_variant	145581					integral to membrane		g.chr14:42355819C>A	AK055365	CCDS9678.1	14q21.1	2013-02-11	2004-02-02	2004-02-04	ENSG00000165379	ENSG00000165379		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	20360	protein-coding gene	gene with protein product	"""fibronectin type III, immunoglobulin and leucine rich repeat domains 8"""	612811	"""chromosome 14 open reading frame 146"""	C14orf146		16828986	Standard	NM_152447		Approved	FIGLER8, SALM5	uc001wvm.3	Q96NI6	OTTHUMG00000140261	ENST00000298119.4:c.-10C>A	14.37:g.42355819C>A		HNSCC(30;0.082)				LRFN5_uc010ana.2_Translation_Start_Site		NM_152447	NP_689660	Q96NI6	LRFN5_HUMAN	LUAD - Lung adenocarcinoma(50;0.0223)|Lung(238;0.0728)	GBM - Glioblastoma multiforme(112;0.00847)	3	1189	+								B3KU78|Q86XL2	Translation_Start_Site	SNP	ENST00000298119.4	37	c.-9C>A	CCDS9678.1																																																																																				PASS	0.338	LRFN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276786.1	NM_152447		9	48	9	48	---	---	---	---
LRFN5	145581	broad.mit.edu	37	14	42356171	42356171	+	Missense_Mutation	SNP	A	A	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr14:42356171A>T	ENST00000298119.4	+	3	1532	c.343A>T	c.(343-345)Aca>Tca	p.T115S	LRFN5_ENST00000554171.1_Missense_Mutation_p.T115S|LRFN5_ENST00000554120.1_Missense_Mutation_p.T115S	NM_152447.3	NP_689660.2	Q96NI6	LRFN5_HUMAN	leucine rich repeat and fibronectin type III domain containing 5	115						integral component of membrane (GO:0016021)		p.T115S(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(67)|ovary(5)|pancreas(3)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(2)	120			LUAD - Lung adenocarcinoma(50;0.0223)|Lung(238;0.0728)	GBM - Glioblastoma multiforme(112;0.00847)		GACTAAAATTACAAATGATAT	0.358										HNSCC(30;0.082)																												uc001wvm.2																			1	Substitution - Missense(1)		lung(1)	ovary(5)|pancreas(2)|central_nervous_system(1)	8						c.(343-345)ACA>TCA		leucine rich repeat and fibronectin type III							67.0	67.0	67.0					14																	42356171		2203	4300	6503	SO:0001583	missense	145581					integral to membrane		g.chr14:42356171A>T	AK055365	CCDS9678.1	14q21.1	2013-02-11	2004-02-02	2004-02-04	ENSG00000165379	ENSG00000165379		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	20360	protein-coding gene	gene with protein product	"""fibronectin type III, immunoglobulin and leucine rich repeat domains 8"""	612811	"""chromosome 14 open reading frame 146"""	C14orf146		16828986	Standard	NM_152447		Approved	FIGLER8, SALM5	uc001wvm.3	Q96NI6	OTTHUMG00000140261	ENST00000298119.4:c.343A>T	14.37:g.42356171A>T	ENSP00000298119:p.Thr115Ser	HNSCC(30;0.082)				LRFN5_uc010ana.2_Missense_Mutation_p.T115S	p.T115S	NM_152447	NP_689660	Q96NI6	LRFN5_HUMAN	LUAD - Lung adenocarcinoma(50;0.0223)|Lung(238;0.0728)	GBM - Glioblastoma multiforme(112;0.00847)	3	1541	+			115			Extracellular (Potential).|LRR 3.		B3KU78|Q86XL2	Missense_Mutation	SNP	ENST00000298119.4	37	c.343A>T	CCDS9678.1	.	.	.	.	.	.	.	.	.	.	A	3.612	-0.079355	0.07141	.	.	ENSG00000165379	ENST00000298119;ENST00000554120;ENST00000554171	T;T;T	0.50001	0.76;0.76;0.76	5.56	5.56	0.83823	.	0.000000	0.64402	D	0.000018	T	0.23806	0.0576	N	0.11255	0.115	0.31949	N	0.609975	B;B	0.09022	0.001;0.002	B;B	0.15052	0.004;0.012	T	0.26395	-1.0104	10	0.07482	T	0.82	.	8.2516	0.31730	0.9121:0.0:0.0879:0.0	.	115;115	G3V364;Q96NI6	.;LRFN5_HUMAN	S	115	ENSP00000298119:T115S;ENSP00000451897:T115S;ENSP00000451067:T115S	ENSP00000298119:T115S	T	+	1	0	LRFN5	41425921	0.879000	0.30193	1.000000	0.80357	0.994000	0.84299	2.254000	0.43214	2.098000	0.63641	0.528000	0.53228	ACA		PASS	0.358	LRFN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276786.1	NM_152447		47	86	47	86	---	---	---	---
FSCB	84075	broad.mit.edu	37	14	44974026	44974026	+	Missense_Mutation	SNP	T	T	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr14:44974026T>A	ENST00000340446.4	-	1	2456	c.2165A>T	c.(2164-2166)gAt>gTt	p.D722V	RP11-163M18.1_ENST00000557465.1_RNA|RP11-163M18.1_ENST00000555433.1_RNA	NM_032135.3	NP_115511.3	Q5H9T9	FSCB_HUMAN	fibrous sheath CABYR binding protein	722						sperm fibrous sheath (GO:0035686)|sperm principal piece (GO:0097228)	calcium ion binding (GO:0005509)	p.D722V(1)		breast(4)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(10)|lung(47)|ovary(2)|pancreas(1)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	89				GBM - Glioblastoma multiforme(112;0.128)		CAGAAGCAAATCAGCTGGTGG	0.512																																						uc001wvn.2																			1	Substitution - Missense(1)		lung(1)	lung(3)|breast(3)|ovary(2)|central_nervous_system(1)	9						c.(2164-2166)GAT>GTT		fibrous sheath CABYR binding protein							44.0	48.0	47.0					14																	44974026		2203	4300	6503	SO:0001583	missense	84075					cilium		g.chr14:44974026T>A	AK124110	CCDS9679.1	14q21.3	2007-11-22	2007-11-22	2007-11-22	ENSG00000189139	ENSG00000189139			20494	protein-coding gene	gene with protein product		611779	"""chromosome 14 open reading frame 155"""	C14orf155		17855365	Standard	NM_032135		Approved	DKFZP434F1017	uc001wvn.3	Q5H9T9	OTTHUMG00000140262	ENST00000340446.4:c.2165A>T	14.37:g.44974026T>A	ENSP00000344579:p.Asp722Val						p.D722V	NM_032135	NP_115511	Q5H9T9	FSCB_HUMAN		GBM - Glioblastoma multiforme(112;0.128)	1	2474	-			722					Q5H9U7|Q86YI2|Q9H0J3	Missense_Mutation	SNP	ENST00000340446.4	37	c.2165A>T	CCDS9679.1	.	.	.	.	.	.	.	.	.	.	T	12.56	1.973722	0.34848	.	.	ENSG00000189139	ENST00000340446;ENST00000537803	T	0.14022	2.54	4.17	3.01	0.34805	.	.	.	.	.	T	0.18045	0.0433	L	0.34521	1.04	0.21697	N	0.999586	D	0.57899	0.981	P	0.57101	0.813	T	0.10154	-1.0642	9	0.32370	T	0.25	-0.4736	8.0032	0.30310	0.0:0.0994:0.0:0.9006	.	722	Q5H9T9	FSCB_HUMAN	V	722;615	ENSP00000344579:D722V	ENSP00000344579:D722V	D	-	2	0	FSCB	44043776	0.005000	0.15991	0.005000	0.12908	0.008000	0.06430	1.392000	0.34486	0.771000	0.33359	0.454000	0.30748	GAT		PASS	0.512	FSCB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276788.1	NM_032135		34	47	34	47	---	---	---	---
FANCM	57697	broad.mit.edu	37	14	45645258	45645258	+	Missense_Mutation	SNP	C	C	G			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr14:45645258C>G	ENST00000267430.5	+	14	3386	c.3301C>G	c.(3301-3303)Caa>Gaa	p.Q1101E	FANCM_ENST00000542564.2_Missense_Mutation_p.Q1075E	NM_020937.2	NP_065988.1	Q8IYD8	FANCM_HUMAN	Fanconi anemia, complementation group M	1101					DNA repair (GO:0006281)|replication fork processing (GO:0031297)|resolution of meiotic recombination intermediates (GO:0000712)	FANCM-MHF complex (GO:0071821)|Fanconi anaemia nuclear complex (GO:0043240)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|nuclease activity (GO:0004518)	p.Q1101E(1)		breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(31)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	85						CAATCGTGTTCAAATACACAG	0.348								Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia																													uc001wwd.3																			1	Substitution - Missense(1)		lung(1)	ovary(3)|lung(2)|breast(2)	7						c.(3301-3303)CAA>GAA	Involved_in_tolerance_or_repair_of_DNA_crosslinks	Fanconi anemia, complementation group M							54.0	54.0	54.0					14																	45645258		2203	4300	6503	SO:0001583	missense	57697	Fanconi_Anemia	Familial Cancer Database	Pancytopenia Dysmelia, FA (several complementation groups)	DNA repair	Fanconi anaemia nuclear complex	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding|nuclease activity|protein binding	g.chr14:45645258C>G	AK001672	CCDS32070.1	14q21.3	2014-09-17	2005-09-01	2005-09-01		ENSG00000187790		"""Fanconi anemia, complementation groups"""	23168	protein-coding gene	gene with protein product		609644	"""KIAA1596"""	KIAA1596		10997877, 16116422	Standard	NM_020937		Approved	FAAP250	uc001wwd.4	Q8IYD8		ENST00000267430.5:c.3301C>G	14.37:g.45645258C>G	ENSP00000267430:p.Gln1101Glu					FANCM_uc010anf.2_Missense_Mutation_p.Q1075E|FANCM_uc001wwe.3_Missense_Mutation_p.Q637E|FANCM_uc010ang.2_Missense_Mutation_p.Q315E	p.Q1101E	NM_020937	NP_065988	Q8IYD8	FANCM_HUMAN			14	3400	+			1101					B2RTQ9|Q3YFH9|Q8N9X6|Q9HCH6	Missense_Mutation	SNP	ENST00000267430.5	37	c.3301C>G	CCDS32070.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	1.490|1.490	-0.554986|-0.554986	0.03967|0.03967	.|.	.|.	ENSG00000187790|ENSG00000187790	ENST00000267430;ENST00000542564;ENST00000556250|ENST00000554809	T;T;T|.	0.19532|.	2.76;2.76;2.14|.	5.41|5.41	-0.117|-0.117	0.13551|0.13551	.|.	0.760753|.	0.13308|.	N|.	0.397697|.	T|.	0.49677|.	0.1571|.	M|M	0.61703|0.61703	1.905|1.905	0.09310|0.09310	N|N	1|1	B;B|.	0.12013|.	0.001;0.005|.	B;B|.	0.11329|.	0.002;0.006|.	T|.	0.45512|.	-0.9256|.	10|.	0.62326|.	D|.	0.03|.	.|.	9.953|9.953	0.41649|0.41649	0.2496:0.39:0.3604:0.0|0.2496:0.39:0.3604:0.0	.|.	1075;1101|.	B2RTQ9;Q8IYD8|.	.;FANCM_HUMAN|.	E|X	1101;1075;617|33	ENSP00000267430:Q1101E;ENSP00000442493:Q1075E;ENSP00000452033:Q617E|.	ENSP00000267430:Q1101E|.	Q|S	+|+	1|2	0|0	FANCM|FANCM	44715008|44715008	0.001000|0.001000	0.12720|0.12720	0.000000|0.000000	0.03702|0.03702	0.007000|0.007000	0.05969|0.05969	0.751000|0.751000	0.26348|0.26348	-0.211000|-0.211000	0.10124|0.10124	-0.282000|-0.282000	0.10007|0.10007	CAA|TCA		PASS	0.348	FANCM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410474.1	XM_048128		49	74	49	74	---	---	---	---
RPL10L	140801	broad.mit.edu	37	14	47120699	47120699	+	Missense_Mutation	SNP	C	C	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr14:47120699C>A	ENST00000298283.3	-	1	329	c.241G>T	c.(241-243)Ggc>Tgc	p.G81C		NM_080746.2	NP_542784.1	Q96L21	RL10L_HUMAN	ribosomal protein L10-like	81					spermatogenesis (GO:0007283)|translation (GO:0006412)	cytosolic large ribosomal subunit (GO:0022625)|membrane (GO:0016020)|nucleus (GO:0005634)|polysome (GO:0005844)	structural constituent of ribosome (GO:0003735)	p.G81C(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(20)|ovary(1)	27						CCATCTCTGCCACAACTTTTC	0.537																																						uc001wwg.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(241-243)GGC>TGC		ribosomal protein L10-like protein							70.0	69.0	69.0					14																	47120699		2203	4300	6503	SO:0001583	missense	140801				spermatogenesis|translation	cytosolic large ribosomal subunit|nucleus	structural constituent of ribosome	g.chr14:47120699C>A	AB063608	CCDS32071.1	14q21.2	2011-09-15			ENSG00000165496	ENSG00000165496		"""L ribosomal proteins"""	17976	protein-coding gene	gene with protein product						19123937	Standard	NM_080746		Approved		uc001wwg.3	Q96L21	OTTHUMG00000157869	ENST00000298283.3:c.241G>T	14.37:g.47120699C>A	ENSP00000298283:p.Gly81Cys						p.G81C	NM_080746	NP_542784	Q96L21	RL10L_HUMAN			1	330	-			81					Q8IUD1	Missense_Mutation	SNP	ENST00000298283.3	37	c.241G>T	CCDS32071.1	.	.	.	.	.	.	.	.	.	.	C	21.0	4.085077	0.76642	.	.	ENSG00000165496	ENST00000298283	D	0.81908	-1.55	4.17	4.17	0.49024	Ribosomal protein L10e/L16 (2);	0.000000	0.85682	D	0.000000	D	0.95385	0.8502	H	0.99851	4.845	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.96931	0.9681	10	0.87932	D	0	-32.7173	14.7976	0.69889	0.0:1.0:0.0:0.0	.	81	Q96L21	RL10L_HUMAN	C	81	ENSP00000298283:G81C	ENSP00000298283:G81C	G	-	1	0	RPL10L	46190449	1.000000	0.71417	0.839000	0.33178	0.968000	0.65278	7.026000	0.76455	2.608000	0.88229	0.655000	0.94253	GGC		PASS	0.537	RPL10L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349819.1			16	66	16	66	---	---	---	---
MAP4K5	11183	broad.mit.edu	37	14	50909507	50909507	+	Missense_Mutation	SNP	C	C	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr14:50909507C>T	ENST00000013125.4	-	21	1825	c.1507G>A	c.(1507-1509)Gat>Aat	p.D503N		NM_006575.4|NM_198794.2	NP_006566.2|NP_942089.1	Q9Y4K4	M4K5_HUMAN	mitogen-activated protein kinase kinase kinase kinase 5	503					activation of JUN kinase activity (GO:0007257)|intracellular signal transduction (GO:0035556)|protein phosphorylation (GO:0006468)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|small GTPase regulator activity (GO:0005083)	p.D503N(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	15	all_epithelial(31;0.000415)|Breast(41;0.0102)					GGACAGCCATCAAAAACTTTT	0.249																																						uc001wya.2																			1	Substitution - Missense(1)		lung(1)	large_intestine(1)	1						c.(1507-1509)GAT>AAT		mitogen-activated protein kinase kinase kinase							58.0	57.0	57.0					14																	50909507		1788	4059	5847	SO:0001583	missense	11183				activation of JUN kinase activity	cytoplasm	ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity	g.chr14:50909507C>T	U77129		14q11.2-q21	2011-06-09				ENSG00000012983		"""Mitogen-activated protein kinase cascade / Kinase kinase kinase kinases"""	6867	protein-coding gene	gene with protein product	"""germinal center kinase-related"""	604923				9038372, 8274451	Standard	NM_198794		Approved	KHS1, GCKR, KHS	uc001wyb.3	Q9Y4K4		ENST00000013125.4:c.1507G>A	14.37:g.50909507C>T	ENSP00000013125:p.Asp503Asn					MAP4K5_uc001wyb.2_Missense_Mutation_p.D503N|MAP4K5_uc010anv.1_Missense_Mutation_p.D503N|MAP4K5_uc001wyc.1_Missense_Mutation_p.D177N	p.D503N	NM_006575	NP_006566	Q9Y4K4	M4K5_HUMAN			21	1827	-	all_epithelial(31;0.000415)|Breast(41;0.0102)		503					Q8IYF6	Missense_Mutation	SNP	ENST00000013125.4	37	c.1507G>A		.	.	.	.	.	.	.	.	.	.	C	11.55	1.673508	0.29693	.	.	ENSG00000012983	ENST00000013125	T	0.68624	-0.34	5.04	5.04	0.67666	.	0.000000	0.85682	D	0.000000	T	0.53012	0.1770	N	0.00864	-1.135	0.80722	D	1	D;B;D	0.69078	0.997;0.001;0.997	D;B;D	0.77004	0.989;0.005;0.989	T	0.58657	-0.7598	10	0.02654	T	1	.	18.3897	0.90478	0.0:1.0:0.0:0.0	.	177;503;503	B3KWC4;B2R928;Q9Y4K4	.;.;M4K5_HUMAN	N	503	ENSP00000013125:D503N	ENSP00000013125:D503N	D	-	1	0	MAP4K5	49979257	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.808000	0.62583	2.350000	0.79820	0.655000	0.94253	GAT		PASS	0.249	MAP4K5-001	KNOWN	non_canonical_conserved|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000410880.1	NM_006575		26	62	26	62	---	---	---	---
PYGL	5836	broad.mit.edu	37	14	51378992	51378992	+	Silent	SNP	C	C	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr14:51378992C>A	ENST00000216392.7	-	14	1982	c.1650G>T	c.(1648-1650)ctG>ctT	p.L550L	RP11-218E20.5_ENST00000557343.1_RNA|PYGL_ENST00000544180.2_Silent_p.L516L|PYGL_ENST00000532462.1_Silent_p.L550L	NM_002863.4	NP_002854.3	P06737	PYGL_HUMAN	phosphorylase, glycogen, liver	550					5-phosphoribose 1-diphosphate biosynthetic process (GO:0006015)|carbohydrate metabolic process (GO:0005975)|glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|glycogen catabolic process (GO:0005980)|glycogen metabolic process (GO:0005977)|necroptotic process (GO:0070266)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	AMP binding (GO:0016208)|ATP binding (GO:0005524)|bile acid binding (GO:0032052)|drug binding (GO:0008144)|glucose binding (GO:0005536)|glycogen phosphorylase activity (GO:0008184)|protein homodimerization activity (GO:0042803)|purine nucleobase binding (GO:0002060)|pyridoxal phosphate binding (GO:0030170)|vitamin binding (GO:0019842)	p.L550L(1)		NS(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(8)|prostate(1)|skin(3)	25	all_epithelial(31;0.00825)|Breast(41;0.148)				Adenosine monophosphate(DB00131)	ACTCCGTCTCCAGGAACTGAG	0.448																																						uc001wyu.2																			1	Substitution - coding silent(1)		lung(1)	skin(1)	1						c.(1648-1650)CTG>CTT		liver glycogen phosphorylase isoform 1	Adenosine monophosphate(DB00131)|Pyridoxal Phosphate(DB00114)|Riboflavin(DB00140)						171.0	164.0	166.0					14																	51378992		2203	4300	6503	SO:0001819	synonymous_variant	5836				glucose homeostasis|glucose metabolic process|glycogen catabolic process	cytosol|soluble fraction	AMP binding|ATP binding|bile acid binding|drug binding|glucose binding|glycogen phosphorylase activity|protein homodimerization activity|purine base binding|pyridoxal phosphate binding	g.chr14:51378992C>A		CCDS32080.1, CCDS53894.1	14q11.2-q24.3	2013-03-01	2008-07-31		ENSG00000100504	ENSG00000100504	2.4.1.1	"""Glycogen phosphorylases"""	9725	protein-coding gene	gene with protein product	"""Hers disease"", ""glycogen storage disease type VI"", ""glycogen phosphorylase, liver form"""	613741	"""phosphorylase, glycogen; liver"""			2877458	Standard	NM_002863		Approved		uc001wyu.3	P06737	OTTHUMG00000166596	ENST00000216392.7:c.1650G>T	14.37:g.51378992C>A						PYGL_uc010tqq.1_Silent_p.L516L|PYGL_uc001wyv.2_Silent_p.L224L	p.L550L	NM_002863	NP_002854	P06737	PYGL_HUMAN			14	1777	-	all_epithelial(31;0.00825)|Breast(41;0.148)		550					A6NDQ4|B4DUB7|F5H816|O60567|O60752|O60913|Q501V9|Q641R5|Q96G82	Silent	SNP	ENST00000216392.7	37	c.1650G>T	CCDS32080.1																																																																																				PASS	0.448	PYGL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390654.3	NM_002863		91	156	91	156	---	---	---	---
CGRRF1	10668	broad.mit.edu	37	14	55004942	55004942	+	Silent	SNP	G	G	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr14:55004942G>T	ENST00000216420.7	+	6	972	c.840G>T	c.(838-840)ggG>ggT	p.G280G	CGRRF1_ENST00000557512.1_3'UTR	NM_006568.2	NP_006559.1	Q99675	CGRF1_HUMAN	cell growth regulator with ring finger domain 1	280					cell cycle arrest (GO:0007050)|negative regulation of cell proliferation (GO:0008285)|response to stress (GO:0006950)	intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	zinc ion binding (GO:0008270)	p.G280G(1)		endometrium(3)|kidney(2)|lung(5)|ovary(2)|stomach(1)	13						GCCAGAATGGGACTGTGAACT	0.473																																						uc001xay.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(838-840)GGG>GGT		cell growth regulator with ring finger domain 1							157.0	136.0	143.0					14																	55004942		2203	4300	6503	SO:0001819	synonymous_variant	10668				cell cycle arrest|negative regulation of cell proliferation|response to stress		zinc ion binding	g.chr14:55004942G>T	BC015063	CCDS9719.1	14q22.2	2013-09-20			ENSG00000100532	ENSG00000100532		"""RING-type (C3HC4) zinc fingers"""	15528	protein-coding gene	gene with protein product		606138				8968090	Standard	NM_006568		Approved	CGR19, RNF197	uc001xay.3	Q99675	OTTHUMG00000140308	ENST00000216420.7:c.840G>T	14.37:g.55004942G>T						CGRRF1_uc001xaz.2_RNA	p.G280G	NM_006568	NP_006559	Q99675	CGRF1_HUMAN			6	931	+			280			RING-type.		Q96BX2	Silent	SNP	ENST00000216420.7	37	c.840G>T	CCDS9719.1																																																																																				PASS	0.473	CGRRF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276905.2	NM_006568		36	75	36	75	---	---	---	---
RTN1	6252	broad.mit.edu	37	14	60193658	60193658	+	Missense_Mutation	SNP	G	G	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr14:60193658G>T	ENST00000267484.5	-	3	2079	c.1744C>A	c.(1744-1746)Ctg>Atg	p.L582M		NM_021136.2	NP_066959.1	Q16799	RTN1_HUMAN	reticulon 1	582					neuron differentiation (GO:0030182)	endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)		p.L582M(1)		central_nervous_system(2)|kidney(2)|large_intestine(9)|lung(30)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	49				OV - Ovarian serous cystadenocarcinoma(108;0.0968)		TTGAGAAACAGCAGTGGGGGC	0.582																																						uc001xen.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)|central_nervous_system(2)	4						c.(1744-1746)CTG>ATG		reticulon 1 isoform A							19.0	20.0	19.0					14																	60193658		2202	4299	6501	SO:0001583	missense	6252				neuron differentiation	integral to endoplasmic reticulum membrane	signal transducer activity	g.chr14:60193658G>T	L10333	CCDS9740.1, CCDS9741.1	14q21-q22	2008-08-29			ENSG00000139970	ENSG00000139970			10467	protein-coding gene	gene with protein product		600865	"""neuroendocrine-specific protein"""	NSP		8275708	Standard	NM_206852		Approved		uc001xen.1	Q16799	OTTHUMG00000028947	ENST00000267484.5:c.1744C>A	14.37:g.60193658G>T	ENSP00000267484:p.Leu582Met					RTN1_uc001xem.1_Missense_Mutation_p.L162M	p.L582M	NM_021136	NP_066959	Q16799	RTN1_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0968)	3	1953	-			582					Q16800|Q16801|Q5BKZ4|Q9BQ59	Missense_Mutation	SNP	ENST00000267484.5	37	c.1744C>A	CCDS9740.1	.	.	.	.	.	.	.	.	.	.	G	9.381	1.073116	0.20147	.	.	ENSG00000139970	ENST00000432103;ENST00000267484;ENST00000433623	T	0.23147	1.92	4.8	4.8	0.61643	.	1.223890	0.05685	N	0.591048	T	0.32133	0.0819	M	0.62723	1.935	0.36425	D	0.86457	P	0.38863	0.65	B	0.31751	0.135	T	0.45934	-0.9227	10	0.33940	T	0.23	.	17.8508	0.88747	0.0:0.0:1.0:0.0	.	582	Q16799	RTN1_HUMAN	M	162;582;508	ENSP00000267484:L582M	ENSP00000267484:L582M	L	-	1	2	RTN1	59263411	1.000000	0.71417	0.883000	0.34634	0.080000	0.17528	4.209000	0.58493	2.204000	0.70986	0.563000	0.77884	CTG		PASS	0.582	RTN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000072278.2			4	16	4	16	---	---	---	---
SYT16	83851	broad.mit.edu	37	14	62462806	62462806	+	Silent	SNP	G	G	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr14:62462806G>T	ENST00000430451.2	+	1	266	c.69G>T	c.(67-69)cgG>cgT	p.R23R	SYT16_ENST00000446982.2_Silent_p.R23R	NM_031914.2	NP_114120.2	Q17RD7	SYT16_HUMAN	synaptotagmin XVI	23					exocytosis (GO:0006887)			p.R23R(2)		central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(12)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	35				OV - Ovarian serous cystadenocarcinoma(108;0.0438)|BRCA - Breast invasive adenocarcinoma(234;0.118)		GGATATCTCGGGTTTATGAAG	0.453																																						uc001xfu.1																			2	Substitution - coding silent(2)		lung(2)	central_nervous_system(1)	1						c.(67-69)CGG>CGT		synaptotagmin XIV-like							96.0	91.0	92.0					14																	62462806		1876	4110	5986	SO:0001819	synonymous_variant	83851							g.chr14:62462806G>T	BC040924	CCDS45121.1	14q23.2	2014-07-02	2005-07-15	2005-07-15	ENSG00000139973	ENSG00000139973		"""Synaptotagmins"""	23142	protein-coding gene	gene with protein product	"""synaptotagmin XIV-related"", "" chr14 synaptotagmin"""	610950	"""synaptotagmin XIV-like"""	SYT14L		11543631	Standard	NM_031914		Approved	yt14r, CHR14SYT, Strep14	uc001xfu.1	Q17RD7	OTTHUMG00000171106	ENST00000430451.2:c.69G>T	14.37:g.62462806G>T						SYT16_uc010tsd.1_Silent_p.R23R	p.R23R	NM_031914	NP_114120	Q17RD7	SYT16_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0438)|BRCA - Breast invasive adenocarcinoma(234;0.118)	1	266	+			23					B4DZH2|B7ZL60|C9J8I3|Q707N2|Q7Z441|Q8IUU0|Q9BQR8	Silent	SNP	ENST00000430451.2	37	c.69G>T	CCDS45121.1																																																																																				PASS	0.453	SYT16-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000411700.1	NM_031914		30	69	30	69	---	---	---	---
RHOJ	57381	broad.mit.edu	37	14	63749907	63749907	+	Nonsense_Mutation	SNP	C	C	A	rs190487730		TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr14:63749907C>A	ENST00000316754.3	+	4	933	c.471C>A	c.(469-471)taC>taA	p.Y157*	RHOJ_ENST00000555125.1_Nonsense_Mutation_p.Y157*	NM_020663.4	NP_065714.1	Q9H4E5	RHOJ_HUMAN	ras homolog family member J	157					actin cytoskeleton organization (GO:0030036)|GTP catabolic process (GO:0006184)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|retina vasculature morphogenesis in camera-type eye (GO:0061299)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)	p.Y157*(1)		NS(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|upper_aerodigestive_tract(1)	21				OV - Ovarian serous cystadenocarcinoma(108;0.00326)|all cancers(60;0.031)|BRCA - Breast invasive adenocarcinoma(234;0.119)		CTCTCACTTACGAGCATGGTG	0.413																																						uc001xgb.1																			1	Substitution - Nonsense(1)		lung(1)		0						c.(469-471)TAC>TAA		ras homolog gene family, member J precursor							104.0	100.0	101.0					14																	63749907		2203	4300	6503	SO:0001587	stop_gained	57381				actin cytoskeleton organization|regulation of cell shape|regulation of small GTPase mediated signal transduction	cytosol|plasma membrane	GTP binding|GTPase activity	g.chr14:63749907C>A	AK027351	CCDS9757.1	14q23.1	2012-02-27	2012-02-27	2004-03-24	ENSG00000126785	ENSG00000126785			688	protein-coding gene	gene with protein product		607653	"""RAS-like, family 7, member B"", ""ras homolog gene family, member J"""	RASL7B, ARHJ		10967094	Standard	NM_020663		Approved	FLJ14445, TCL	uc001xgb.2	Q9H4E5	OTTHUMG00000140342	ENST00000316754.3:c.471C>A	14.37:g.63749907C>A	ENSP00000316729:p.Tyr157*						p.Y157*	NM_020663	NP_065714	Q9H4E5	RHOJ_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.00326)|all cancers(60;0.031)|BRCA - Breast invasive adenocarcinoma(234;0.119)	4	914	+			157					Q96KC1	Nonsense_Mutation	SNP	ENST00000316754.3	37	c.471C>A	CCDS9757.1	.	.	.	.	.	.	.	.	.	.	C	28.3	4.911427	0.92178	.	.	ENSG00000126785	ENST00000316754;ENST00000555125	.	.	.	5.5	-9.1	0.00714	.	0.318943	0.30109	N	0.010399	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	16.1967	0.82036	0.0:0.1019:0.0862:0.8119	.	.	.	.	X	157	.	ENSP00000316729:Y157X	Y	+	3	2	RHOJ	62819660	0.003000	0.15002	0.436000	0.26797	0.805000	0.45488	-1.439000	0.02414	-1.846000	0.01175	-2.506000	0.00189	TAC		PASS	0.413	RHOJ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276975.3			42	55	42	55	---	---	---	---
RAD51B	5890	broad.mit.edu	37	14	68290268	68290268	+	Missense_Mutation	SNP	G	G	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr14:68290268G>T	ENST00000487270.1	+	2	56	c.8G>T	c.(7-9)aGc>aTc	p.S3I	RAD51B_ENST00000471583.1_Missense_Mutation_p.S3I|RAD51B_ENST00000487861.1_Missense_Mutation_p.S3I|RAD51B_ENST00000488612.1_Missense_Mutation_p.S3I|RAD51B_ENST00000390683.3_Missense_Mutation_p.S3I	NM_133509.3	NP_598193.2	O15315	RA51B_HUMAN	RAD51 paralog B	3	Interaction with RAD51C.				ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|double-strand break repair via homologous recombination (GO:0000724)|positive regulation of G2/M transition of mitotic cell cycle (GO:0010971)|reciprocal meiotic recombination (GO:0007131)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|Rad51B-Rad51C-Rad51D-XRCC2 complex (GO:0033063)|replication fork (GO:0005657)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)|double-stranded DNA binding (GO:0003690)|single-stranded DNA binding (GO:0003697)	p.S3I(3)	HMGA2/RAD51B(11)	breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	11						GGCATGGGTAGCAAGAAACTA	0.348								Direct reversal of damage																														uc001xkf.1										T					HMGA2		lipoma|uterine leiomyoma		3	Substitution - Missense(3)		lung(3)		0						c.(7-9)AGC>ATC	Direct_reversal_of_damage|Homologous_recombination	RAD51-like 1 isoform 3							119.0	110.0	113.0					14																	68290268		2203	4300	6503	SO:0001583	missense	5890				blood coagulation|DNA repair|reciprocal meiotic recombination	nucleoplasm	ATP binding|DNA binding|DNA-dependent ATPase activity	g.chr14:68290268G>T	U84138	CCDS9789.1, CCDS9790.1	14q23-q24.2	2013-07-02	2013-07-02	2011-07-01	ENSG00000182185	ENSG00000182185			9822	protein-coding gene	gene with protein product		602948	"""RAD51 (S. cerevisiae)-like 1"", ""RAD51-like 1 (S. cerevisiae)"", ""RAD51 homolog B (S. cerevisiae)"""	RAD51L1		6261043, 9207106	Standard	NM_002877		Approved	REC2, hREC2, R51H2	uc001xkf.2	O15315	OTTHUMG00000157530	ENST00000487270.1:c.8G>T	14.37:g.68290268G>T	ENSP00000419471:p.Ser3Ile					RAD51L1_uc010aqq.2_Missense_Mutation_p.S3I|RAD51L1_uc001xkd.2_Missense_Mutation_p.S3I|RAD51L1_uc010aqr.2_5'UTR|RAD51L1_uc001xke.2_Missense_Mutation_p.S3I|RAD51L1_uc010aqs.1_Missense_Mutation_p.S3I|RAD51L1_uc001xkg.1_Missense_Mutation_p.S3I	p.S3I	NM_133509	NP_598193	O15315	RA51B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (185;0.163)|all cancers(60;3.9e-06)|OV - Ovarian serous cystadenocarcinoma(108;0.000103)|BRCA - Breast invasive adenocarcinoma(234;0.000421)	2	72	+			3					O60914|O75210|Q3Y4F8|Q6FHX8|Q86SY3|Q86SY4|Q86TR0|Q86U92|Q86U93|Q86U94|Q8N6H4|Q9UPL5	Missense_Mutation	SNP	ENST00000487270.1	37	c.8G>T	CCDS9789.1	.	.	.	.	.	.	.	.	.	.	G	15.52	2.859263	0.51376	.	.	ENSG00000182185	ENST00000487861;ENST00000471583;ENST00000487270;ENST00000488612;ENST00000485181;ENST00000553334;ENST00000390683;ENST00000402498;ENST00000342389	T;T;T;T;T;T;T	0.54675	0.95;1.1;1.08;1.08;0.56;0.72;1.08	5.49	3.56	0.40772	.	0.195739	0.41605	D	0.000852	T	0.28400	0.0702	N	0.19112	0.55	0.31535	N	0.660641	P;P;B;B;B;B	0.40000	0.698;0.666;0.355;0.309;0.178;0.321	B;B;B;B;B;B	0.36289	0.156;0.169;0.221;0.075;0.108;0.109	T	0.36163	-0.9759	10	0.02654	T	1	-0.6741	9.2689	0.37659	0.0825:0.1457:0.7719:0.0	.	3;3;3;3;3;3	C9JYJ0;C9JSP9;O15315-4;O15315;O15315-1;O15315-2	.;.;.;RA51B_HUMAN;.;.	I	3	ENSP00000419881:S3I;ENSP00000418859:S3I;ENSP00000419471:S3I;ENSP00000420061:S3I;ENSP00000417948:S3I;ENSP00000452044:S3I;ENSP00000375101:S3I	ENSP00000343531:S3I	S	+	2	0	RAD51B	67360021	0.997000	0.39634	1.000000	0.80357	0.955000	0.61496	0.243000	0.18106	1.447000	0.47661	0.563000	0.77884	AGC		PASS	0.348	RAD51B-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000349063.1			35	80	35	80	---	---	---	---
SLC8A3	6547	broad.mit.edu	37	14	70634430	70634430	+	Missense_Mutation	SNP	G	G	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr14:70634430G>A	ENST00000381269.2	-	2	1463	c.710C>T	c.(709-711)aCt>aTt	p.T237I	SLC8A3_ENST00000357887.3_Missense_Mutation_p.T237I|SLC8A3_ENST00000356921.2_Missense_Mutation_p.T237I|SLC8A3_ENST00000528359.1_Missense_Mutation_p.T237I|SLC8A3_ENST00000534137.1_Missense_Mutation_p.T237I	NM_058240.2|NM_183002.1	NP_489479.1|NP_892114.1	P57103	NAC3_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 3	237					blood coagulation (GO:0007596)|calcium ion export from cell (GO:1990034)|calcium ion import into cell (GO:1990035)|calcium ion transport into cytosol (GO:0060402)|cell communication (GO:0007154)|cellular response to cAMP (GO:0071320)|hematopoietic progenitor cell differentiation (GO:0002244)|ion transport (GO:0006811)|telencephalon development (GO:0021537)|transmembrane transport (GO:0055085)	dendritic spine (GO:0043197)|integral component of membrane (GO:0016021)|microtubule (GO:0005874)|mitochondrion (GO:0005739)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)	calcium:sodium antiporter activity (GO:0005432)	p.T237I(2)		NS(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(12)|lung(18)|ovary(2)|pancreas(2)|prostate(3)|skin(6)	54				BRCA - Breast invasive adenocarcinoma(234;0.0079)|all cancers(60;0.0102)|OV - Ovarian serous cystadenocarcinoma(108;0.0555)		GAAGAAGAGAGTGAGGAGGCC	0.493																																						uc001xly.2																			2	Substitution - Missense(2)		lung(2)	skin(3)|ovary(2)|breast(2)	7						c.(709-711)ACT>ATT		solute carrier family 8 (sodium/calcium							97.0	94.0	95.0					14																	70634430		2203	4300	6503	SO:0001583	missense	6547				cell communication|platelet activation	integral to membrane|plasma membrane	calcium:sodium antiporter activity|calmodulin binding	g.chr14:70634430G>A	AJ304852	CCDS9799.1, CCDS9800.1, CCDS35498.1, CCDS41967.1, CCDS45131.1, CCDS53904.1	14q24.1	2013-05-22	2008-09-02		ENSG00000100678	ENSG00000100678		"""Solute carriers"""	11070	protein-coding gene	gene with protein product		607991				8798769	Standard	XM_005268017		Approved	NCX3	uc001xly.3	P57103	OTTHUMG00000152342	ENST00000381269.2:c.710C>T	14.37:g.70634430G>A	ENSP00000370669:p.Thr237Ile					SLC8A3_uc001xlw.2_Missense_Mutation_p.T237I|SLC8A3_uc001xlx.2_Missense_Mutation_p.T237I|SLC8A3_uc001xlz.2_Missense_Mutation_p.T237I|SLC8A3_uc010ara.2_RNA	p.T237I	NM_183002	NP_892114	P57103	NAC3_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.0079)|all cancers(60;0.0102)|OV - Ovarian serous cystadenocarcinoma(108;0.0555)	2	1464	-			237			Helical; (Potential).		Q5K3P6|Q5K3P7|Q8IUE9|Q8IUF0|Q8NFI7|Q96QG1|Q96QG2	Missense_Mutation	SNP	ENST00000381269.2	37	c.710C>T	CCDS35498.1	.	.	.	.	.	.	.	.	.	.	G	18.27	3.587099	0.66105	.	.	ENSG00000100678	ENST00000356921;ENST00000381269;ENST00000357887;ENST00000534137;ENST00000528359	T;T;T;T;T	0.63744	-0.06;-0.06;-0.06;-0.06;-0.06	5.71	5.71	0.89125	Sodium/calcium exchanger membrane region (1);	0.000000	0.85682	D	0.000000	D	0.85465	0.5703	M	0.93462	3.42	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;0.999;0.999	D;D;D;D	0.91635	0.999;0.999;0.999;0.999	D	0.88611	0.3156	10	0.87932	D	0	.	19.8647	0.96799	0.0:0.0:1.0:0.0	.	237;237;237;237	P57103-2;P57103;Q96QG2;Q96QG1	.;NAC3_HUMAN;.;.	I	237	ENSP00000349392:T237I;ENSP00000370669:T237I;ENSP00000350560:T237I;ENSP00000436688:T237I;ENSP00000433531:T237I	ENSP00000349392:T237I	T	-	2	0	SLC8A3	69704183	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.860000	0.99555	2.684000	0.91462	0.561000	0.74099	ACT		PASS	0.493	SLC8A3-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000390736.1			39	59	39	59	---	---	---	---
SLC8A3	6547	broad.mit.edu	37	14	70634971	70634971	+	Missense_Mutation	SNP	C	C	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr14:70634971C>A	ENST00000381269.2	-	2	922	c.169G>T	c.(169-171)Ggt>Tgt	p.G57C	SLC8A3_ENST00000357887.3_Missense_Mutation_p.G57C|SLC8A3_ENST00000356921.2_Missense_Mutation_p.G57C|SLC8A3_ENST00000528359.1_Missense_Mutation_p.G57C|SLC8A3_ENST00000534137.1_Missense_Mutation_p.G57C	NM_058240.2|NM_183002.1	NP_489479.1|NP_892114.1	P57103	NAC3_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 3	57					blood coagulation (GO:0007596)|calcium ion export from cell (GO:1990034)|calcium ion import into cell (GO:1990035)|calcium ion transport into cytosol (GO:0060402)|cell communication (GO:0007154)|cellular response to cAMP (GO:0071320)|hematopoietic progenitor cell differentiation (GO:0002244)|ion transport (GO:0006811)|telencephalon development (GO:0021537)|transmembrane transport (GO:0055085)	dendritic spine (GO:0043197)|integral component of membrane (GO:0016021)|microtubule (GO:0005874)|mitochondrion (GO:0005739)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)	calcium:sodium antiporter activity (GO:0005432)	p.G57C(2)		NS(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(12)|lung(18)|ovary(2)|pancreas(2)|prostate(3)|skin(6)	54				BRCA - Breast invasive adenocarcinoma(234;0.0079)|all cancers(60;0.0102)|OV - Ovarian serous cystadenocarcinoma(108;0.0555)		AGGATGACACCCTCCTTGCAG	0.547																																						uc001xly.2																			2	Substitution - Missense(2)		lung(2)	skin(3)|ovary(2)|breast(2)	7						c.(169-171)GGT>TGT		solute carrier family 8 (sodium/calcium							74.0	62.0	66.0					14																	70634971		2203	4300	6503	SO:0001583	missense	6547				cell communication|platelet activation	integral to membrane|plasma membrane	calcium:sodium antiporter activity|calmodulin binding	g.chr14:70634971C>A	AJ304852	CCDS9799.1, CCDS9800.1, CCDS35498.1, CCDS41967.1, CCDS45131.1, CCDS53904.1	14q24.1	2013-05-22	2008-09-02		ENSG00000100678	ENSG00000100678		"""Solute carriers"""	11070	protein-coding gene	gene with protein product		607991				8798769	Standard	XM_005268017		Approved	NCX3	uc001xly.3	P57103	OTTHUMG00000152342	ENST00000381269.2:c.169G>T	14.37:g.70634971C>A	ENSP00000370669:p.Gly57Cys					SLC8A3_uc001xlw.2_Missense_Mutation_p.G57C|SLC8A3_uc001xlx.2_Missense_Mutation_p.G57C|SLC8A3_uc001xlz.2_Missense_Mutation_p.G57C|SLC8A3_uc010ara.2_RNA	p.G57C	NM_183002	NP_892114	P57103	NAC3_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.0079)|all cancers(60;0.0102)|OV - Ovarian serous cystadenocarcinoma(108;0.0555)	2	923	-			57			Extracellular (Potential).		Q5K3P6|Q5K3P7|Q8IUE9|Q8IUF0|Q8NFI7|Q96QG1|Q96QG2	Missense_Mutation	SNP	ENST00000381269.2	37	c.169G>T	CCDS35498.1	.	.	.	.	.	.	.	.	.	.	C	16.69	3.192168	0.58017	.	.	ENSG00000100678	ENST00000356921;ENST00000381269;ENST00000357887;ENST00000534137;ENST00000528359	T;T;T;T;T	0.48836	0.87;0.8;0.94;0.88;0.94	4.84	4.84	0.62591	.	0.000000	0.85682	D	0.000000	T	0.72236	0.3435	M	0.82630	2.6	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;0.999;1.0	D;D;D;D	0.97110	1.0;0.982;0.927;0.95	T	0.77395	-0.2604	10	0.87932	D	0	.	18.1311	0.89602	0.0:1.0:0.0:0.0	.	57;57;57;57	P57103-2;P57103;Q96QG2;Q96QG1	.;NAC3_HUMAN;.;.	C	57	ENSP00000349392:G57C;ENSP00000370669:G57C;ENSP00000350560:G57C;ENSP00000436688:G57C;ENSP00000433531:G57C	ENSP00000349392:G57C	G	-	1	0	SLC8A3	69704724	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.645000	0.83430	2.509000	0.84616	0.563000	0.77884	GGT		PASS	0.547	SLC8A3-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000390736.1			24	43	24	43	---	---	---	---
ADAM21	8747	broad.mit.edu	37	14	70925091	70925091	+	Missense_Mutation	SNP	A	A	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr14:70925091A>T	ENST00000603540.1	+	2	1133	c.875A>T	c.(874-876)cAt>cTt	p.H292L	RP11-486O13.4_ENST00000556646.1_lincRNA|ADAM21_ENST00000267499.3_Missense_Mutation_p.H292L	NM_003813.3	NP_003804.2	Q9UKJ8	ADA21_HUMAN	ADAM metallopeptidase domain 21	292	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.				binding of sperm to zona pellucida (GO:0007339)|multicellular organism reproduction (GO:0032504)|single fertilization (GO:0007338)	axon (GO:0030424)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.H292L(2)		central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(10)|lung(10)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	31				all cancers(60;0.00326)|BRCA - Breast invasive adenocarcinoma(234;0.00646)|OV - Ovarian serous cystadenocarcinoma(108;0.0401)		CAGCTACAGCATGATGCTGCA	0.383																																						uc001xmd.2																			2	Substitution - Missense(2)		lung(2)	pancreas(1)|skin(1)	2						c.(874-876)CAT>CTT		ADAM metallopeptidase domain 21 preproprotein							90.0	89.0	89.0					14																	70925091		2203	4300	6503	SO:0001583	missense	8747				proteolysis|single fertilization	integral to membrane	metalloendopeptidase activity|zinc ion binding	g.chr14:70925091A>T	AF029900	CCDS9804.1	14q24.1	2008-09-05	2005-08-18		ENSG00000139985	ENSG00000139985		"""ADAM metallopeptidase domain containing"""	200	protein-coding gene	gene with protein product		603713	"""a disintegrin and metalloproteinase domain 21"""			9469942	Standard	NM_003813		Approved	ADAM31	uc001xmd.3	Q9UKJ8		ENST00000603540.1:c.875A>T	14.37:g.70925091A>T	ENSP00000474385:p.His292Leu						p.H292L	NM_003813	NP_003804	Q9UKJ8	ADA21_HUMAN		all cancers(60;0.00326)|BRCA - Breast invasive adenocarcinoma(234;0.00646)|OV - Ovarian serous cystadenocarcinoma(108;0.0401)	1	875	+			292			Peptidase M12B.|Extracellular (Potential).		O43507|Q2VPC6|Q32MR0	Missense_Mutation	SNP	ENST00000603540.1	37	c.875A>T	CCDS9804.1	.	.	.	.	.	.	.	.	.	.	A	15.22	2.768306	0.49680	.	.	ENSG00000139985	ENST00000267499	T	0.10860	2.83	4.36	3.21	0.36854	Metallopeptidase, catalytic domain (1);Peptidase M12B, ADAM/reprolysin (2);	0.590894	0.13697	N	0.369114	T	0.24122	0.0584	M	0.90705	3.14	0.32091	N	0.591802	P	0.37731	0.607	B	0.42959	0.403	T	0.27971	-1.0058	10	0.87932	D	0	.	8.6735	0.34165	0.9116:0.0:0.0884:0.0	.	292	Q9UKJ8	ADA21_HUMAN	L	292	ENSP00000267499:H292L	ENSP00000267499:H292L	H	+	2	0	ADAM21	69994844	0.985000	0.35326	0.983000	0.44433	0.840000	0.47671	2.135000	0.42112	0.819000	0.34492	0.455000	0.32223	CAT		PASS	0.383	ADAM21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413008.3			71	124	71	124	---	---	---	---
MAP3K9	4293	broad.mit.edu	37	14	71215569	71215569	+	Missense_Mutation	SNP	C	C	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr14:71215569C>A	ENST00000554752.2	-	5	1302	c.1303G>T	c.(1303-1305)Gac>Tac	p.D435Y	MAP3K9_ENST00000554146.1_Missense_Mutation_p.D172Y|MAP3K9_ENST00000553414.1_Missense_Mutation_p.D129Y|MAP3K9_ENST00000555993.2_Missense_Mutation_p.D435Y|MAP3K9_ENST00000381250.4_Missense_Mutation_p.D435Y	NM_001284230.1	NP_001271159.1	P80192	M3K9_HUMAN	mitogen-activated protein kinase kinase kinase 9	435	Leucine-zipper 1.				activation of JNKK activity (GO:0007256)|activation of JUN kinase activity (GO:0007257)|apoptotic process (GO:0006915)|positive regulation of apoptotic process (GO:0043065)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)		ATP binding (GO:0005524)|JUN kinase kinase kinase activity (GO:0004706)|MAP kinase kinase activity (GO:0004708)|protein homodimerization activity (GO:0042803)|protein serine/threonine kinase activity (GO:0004674)|protein tyrosine kinase activity (GO:0004713)	p.D435Y(1)		breast(1)|central_nervous_system(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|prostate(1)|skin(3)|stomach(2)	46				all cancers(60;0.00779)|BRCA - Breast invasive adenocarcinoma(234;0.00884)|OV - Ovarian serous cystadenocarcinoma(108;0.08)		CTGAGTTGGTCAAACATCTCC	0.423																																					GBM(114;411 1587 13539 28235 50070)	uc001xmm.2																			1	Substitution - Missense(1)		lung(1)	stomach(2)|lung(1)|central_nervous_system(1)|skin(1)	5						c.(1303-1305)GAC>TAC		mitogen-activated protein kinase kinase kinase							106.0	97.0	100.0					14																	71215569		2203	4300	6503	SO:0001583	missense	4293				activation of JUN kinase activity|protein autophosphorylation		ATP binding|JUN kinase kinase kinase activity|MAP kinase kinase activity|protein homodimerization activity	g.chr14:71215569C>A	AF251442	CCDS32112.1, CCDS61485.1, CCDS61488.1, CCDS73650.1	14q24.2	2012-10-02			ENSG00000006432	ENSG00000006432		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	6861	protein-coding gene	gene with protein product		600136		MLK1			Standard	NM_001284231		Approved	PRKE1, MEKK9	uc001xml.3	P80192	OTTHUMG00000171249	ENST00000554752.2:c.1303G>T	14.37:g.71215569C>A	ENSP00000451612:p.Asp435Tyr					MAP3K9_uc010ttk.1_Missense_Mutation_p.D172Y|MAP3K9_uc001xmk.2_Missense_Mutation_p.D129Y|MAP3K9_uc001xml.2_Missense_Mutation_p.D435Y	p.D435Y	NM_033141	NP_149132	P80192	M3K9_HUMAN		all cancers(60;0.00779)|BRCA - Breast invasive adenocarcinoma(234;0.00884)|OV - Ovarian serous cystadenocarcinoma(108;0.08)	5	1303	-			435			Leucine-zipper 1.		A3KN85|Q0D2G7|Q6EH31|Q9H2N5	Missense_Mutation	SNP	ENST00000554752.2	37	c.1303G>T		.	.	.	.	.	.	.	.	.	.	C	27.7	4.858007	0.91433	.	.	ENSG00000006432	ENST00000554752;ENST00000005198;ENST00000553414;ENST00000381250;ENST00000554146;ENST00000542284	D;D;D;D	0.83163	-1.69;-1.69;-1.69;-1.69	5.25	5.25	0.73442	Protein kinase-like domain (1);	0.000000	0.85682	D	0.000000	D	0.90435	0.7005	M	0.67700	2.07	0.80722	D	1	D;D;D;D	0.69078	0.997;0.983;0.99;0.997	D;P;D;D	0.72075	0.964;0.887;0.947;0.976	D	0.91144	0.4948	10	0.87932	D	0	.	19.21	0.93749	0.0:1.0:0.0:0.0	.	172;435;435;129	G3V4P9;P80192;P80192-4;G3V347	.;M3K9_HUMAN;.;.	Y	435;435;129;435;172;163	ENSP00000451612:D435Y;ENSP00000451038:D129Y;ENSP00000370649:D435Y;ENSP00000451921:D172Y	ENSP00000005198:D435Y	D	-	1	0	MAP3K9	70285322	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.003000	0.70701	2.609000	0.88269	0.650000	0.86243	GAC		PASS	0.423	MAP3K9-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000412550.2			35	138	35	138	---	---	---	---
PCNX	22990	broad.mit.edu	37	14	71479701	71479701	+	Splice_Site	SNP	G	G	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr14:71479701G>T	ENST00000304743.2	+	11	3224		c.e11-1		PCNX_ENST00000439984.3_Intron|PCNX_ENST00000238570.5_Splice_Site	NM_014982.2	NP_055797.2	Q96RV3	PCX1_HUMAN	pecanex homolog (Drosophila)							integral component of membrane (GO:0016021)		p.?(1)		NS(2)|biliary_tract(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(14)|liver(2)|lung(40)|ovary(1)|prostate(7)|skin(2)|urinary_tract(1)	87			KIRC - Kidney renal clear cell carcinoma(12;0.206)	all cancers(60;0.00835)|BRCA - Breast invasive adenocarcinoma(234;0.00951)|OV - Ovarian serous cystadenocarcinoma(108;0.0417)		CTTTCTTTTAGCTCTCTCTCC	0.318																																						uc001xmo.2																			1	Unknown(1)		lung(1)	ovary(1)	1						c.e11-1		pecanex-like 1							85.0	82.0	83.0					14																	71479701		2203	4300	6503	SO:0001630	splice_region_variant	22990					integral to membrane		g.chr14:71479701G>T	AF233450, AB018348	CCDS9806.1	14q24.2	2014-07-03							19740	protein-coding gene	gene with protein product			"""pecanex-like 1 (Drosophila)"""	PCNXL1		9244429, 15777640	Standard	NM_014982		Approved	KIAA0995, KIAA0805, pecanex	uc001xmo.2	Q96RV3		ENST00000304743.2:c.2779-1G>T	14.37:g.71479701G>T						PCNX_uc010are.1_Intron|PCNX_uc010arf.1_5'Flank	p.L927_splice	NM_014982	NP_055797	Q96RV3	PCX1_HUMAN	KIRC - Kidney renal clear cell carcinoma(12;0.206)	all cancers(60;0.00835)|BRCA - Breast invasive adenocarcinoma(234;0.00951)|OV - Ovarian serous cystadenocarcinoma(108;0.0417)	11	3225	+								B2RTR6|O94897|Q96AI7|Q9Y2J9	Splice_Site	SNP	ENST00000304743.2	37	c.2779_splice	CCDS9806.1	.	.	.	.	.	.	.	.	.	.	G	19.26	3.792925	0.70452	.	.	ENSG00000100731	ENST00000304743;ENST00000238570	.	.	.	5.11	5.11	0.69529	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.9018	0.92446	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	PCNX	70549454	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.021000	0.93673	2.538000	0.85594	0.557000	0.71058	.		PASS	0.318	PCNX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412479.1	NM_014982	Intron	52	82	52	82	---	---	---	---
SIPA1L1	26037	broad.mit.edu	37	14	72138213	72138213	+	Missense_Mutation	SNP	T	T	C			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr14:72138213T>C	ENST00000555818.1	+	8	2981	c.2633T>C	c.(2632-2634)tTa>tCa	p.L878S	SIPA1L1_ENST00000358550.2_Missense_Mutation_p.L878S|SIPA1L1_ENST00000381232.3_Missense_Mutation_p.L878S|SIPA1L1_ENST00000537413.1_Missense_Mutation_p.L353S	NM_001284247.1|NM_015556.1	NP_001271176.1|NP_056371.1	O43166	SI1L1_HUMAN	signal-induced proliferation-associated 1 like 1	878					actin cytoskeleton reorganization (GO:0031532)|activation of Rap GTPase activity (GO:0032861)|ephrin receptor signaling pathway (GO:0048013)|regulation of axonogenesis (GO:0050770)|regulation of dendritic spine morphogenesis (GO:0061001)|regulation of Rap GTPase activity (GO:0032317)|regulation of synaptic plasticity (GO:0048167)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	GTPase activator activity (GO:0005096)	p.L878S(1)		NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(1)|large_intestine(22)|liver(2)|lung(25)|ovary(3)|prostate(3)|skin(3)|stomach(1)	78				all cancers(60;0.00169)|BRCA - Breast invasive adenocarcinoma(234;0.00912)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)		GACTGCCTTTTAGGGATCTCC	0.493																																						uc001xms.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|breast(1)	4						c.(2632-2634)TTA>TCA		signal-induced proliferation-associated 1 like							119.0	114.0	116.0					14																	72138213		2203	4300	6503	SO:0001583	missense	26037				actin cytoskeleton reorganization|activation of Rap GTPase activity|regulation of dendritic spine morphogenesis	cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane|synaptosome	GTPase activator activity	g.chr14:72138213T>C	AB007900	CCDS9807.1, CCDS61490.1, CCDS61491.1	14q24.1	2003-12-11				ENSG00000197555			20284	protein-coding gene	gene with protein product						9858596	Standard	XM_005267514		Approved	KIAA0440, E6TP1	uc001xmr.1	O43166		ENST00000555818.1:c.2633T>C	14.37:g.72138213T>C	ENSP00000450832:p.Leu878Ser					SIPA1L1_uc001xmt.2_Missense_Mutation_p.L878S|SIPA1L1_uc001xmu.2_Missense_Mutation_p.L878S|SIPA1L1_uc001xmv.2_Missense_Mutation_p.L878S|SIPA1L1_uc010ttm.1_Missense_Mutation_p.L353S	p.L878S	NM_015556	NP_056371	O43166	SI1L1_HUMAN		all cancers(60;0.00169)|BRCA - Breast invasive adenocarcinoma(234;0.00912)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)	8	2981	+			878					J3KP19|O95321|Q9UDU4|Q9UNU4	Missense_Mutation	SNP	ENST00000555818.1	37	c.2633T>C	CCDS9807.1	.	.	.	.	.	.	.	.	.	.	T	14.18	2.459701	0.43736	.	.	ENSG00000197555	ENST00000381232;ENST00000555818;ENST00000358550;ENST00000537413	T;T;T;T	0.60171	0.21;0.21;0.21;0.21	6.16	6.16	0.99307	.	0.061993	0.64402	D	0.000008	T	0.80059	0.4554	M	0.87682	2.9	0.31407	N	0.676002	D;D;D;D;D	0.89917	1.0;0.964;1.0;1.0;0.997	D;P;D;D;P	0.85130	0.997;0.827;0.994;0.997;0.888	D	0.83970	0.0326	10	0.87932	D	0	-11.172	16.8061	0.85666	0.0:0.0:0.0:1.0	.	353;878;353;878;878	F5GYF8;A6H8W6;B4DYX7;O43166-2;O43166	.;.;.;.;SI1L1_HUMAN	S	878;878;878;353	ENSP00000370630:L878S;ENSP00000450832:L878S;ENSP00000351352:L878S;ENSP00000440682:L353S	ENSP00000351352:L878S	L	+	2	0	SIPA1L1	71207966	0.983000	0.35010	0.004000	0.12327	0.109000	0.19521	8.013000	0.88655	2.367000	0.80283	0.528000	0.53228	TTA		PASS	0.493	SIPA1L1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000412806.1	NM_015556		51	140	51	140	---	---	---	---
SIPA1L1	26037	broad.mit.edu	37	14	72205015	72205015	+	Silent	SNP	G	G	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr14:72205015G>A	ENST00000555818.1	+	21	5592	c.5244G>A	c.(5242-5244)ctG>ctA	p.L1748L	SIPA1L1_ENST00000358550.2_Silent_p.L1726L|SIPA1L1_ENST00000381232.3_Silent_p.L1727L|SIPA1L1_ENST00000537413.1_Silent_p.L1201L|SIPA1L1_ENST00000554874.1_3'UTR	NM_001284247.1|NM_015556.1	NP_001271176.1|NP_056371.1	O43166	SI1L1_HUMAN	signal-induced proliferation-associated 1 like 1	1748					actin cytoskeleton reorganization (GO:0031532)|activation of Rap GTPase activity (GO:0032861)|ephrin receptor signaling pathway (GO:0048013)|regulation of axonogenesis (GO:0050770)|regulation of dendritic spine morphogenesis (GO:0061001)|regulation of Rap GTPase activity (GO:0032317)|regulation of synaptic plasticity (GO:0048167)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	GTPase activator activity (GO:0005096)	p.L1748L(1)		NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(1)|large_intestine(22)|liver(2)|lung(25)|ovary(3)|prostate(3)|skin(3)|stomach(1)	78				all cancers(60;0.00169)|BRCA - Breast invasive adenocarcinoma(234;0.00912)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)		AAGGTATGCTGAAGATGCTTC	0.458																																						uc001xms.2																			1	Substitution - coding silent(1)		lung(1)	ovary(3)|breast(1)	4						c.(5242-5244)CTG>CTA		signal-induced proliferation-associated 1 like							118.0	101.0	106.0					14																	72205015		2203	4300	6503	SO:0001819	synonymous_variant	26037				actin cytoskeleton reorganization|activation of Rap GTPase activity|regulation of dendritic spine morphogenesis	cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane|synaptosome	GTPase activator activity	g.chr14:72205015G>A	AB007900	CCDS9807.1, CCDS61490.1, CCDS61491.1	14q24.1	2003-12-11				ENSG00000197555			20284	protein-coding gene	gene with protein product						9858596	Standard	XM_005267514		Approved	KIAA0440, E6TP1	uc001xmr.1	O43166		ENST00000555818.1:c.5244G>A	14.37:g.72205015G>A						SIPA1L1_uc001xmt.2_Silent_p.L1727L|SIPA1L1_uc001xmu.2_Silent_p.L1726L|SIPA1L1_uc001xmv.2_Silent_p.L1747L|SIPA1L1_uc010ttm.1_Silent_p.L1201L|SIPA1L1_uc001xmw.2_Silent_p.L513L	p.L1748L	NM_015556	NP_056371	O43166	SI1L1_HUMAN		all cancers(60;0.00169)|BRCA - Breast invasive adenocarcinoma(234;0.00912)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)	21	5592	+			1748			Potential.		J3KP19|O95321|Q9UDU4|Q9UNU4	Silent	SNP	ENST00000555818.1	37	c.5244G>A	CCDS9807.1																																																																																				PASS	0.458	SIPA1L1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000412806.1	NM_015556		46	61	46	61	---	---	---	---
ENTPD5	957	broad.mit.edu	37	14	74443726	74443726	+	Splice_Site	SNP	C	C	G			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr14:74443726C>G	ENST00000334696.6	-	8	873		c.e8+1		ENTPD5_ENST00000557325.1_Splice_Site	NM_001249.2	NP_001240.1	O75356	ENTP5_HUMAN	ectonucleoside triphosphate diphosphohydrolase 5						'de novo' posttranslational protein folding (GO:0051084)|ATP metabolic process (GO:0046034)|cell growth (GO:0016049)|cell proliferation (GO:0008283)|positive regulation of glycolytic process (GO:0045821)|protein N-linked glycosylation (GO:0006487)|regulation of phosphatidylinositol 3-kinase signaling (GO:0014066)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)	guanosine-diphosphatase activity (GO:0004382)|uridine-diphosphatase activity (GO:0045134)	p.?(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	10				BRCA - Breast invasive adenocarcinoma(234;0.00394)		GGATGTATTACCTGTCAGAAA	0.363																																						uc010tuo.1																			1	Unknown(1)		lung(1)	ovary(1)	1						c.e8+1		ectonucleoside triphosphate diphosphohydrolase 5							118.0	124.0	122.0					14																	74443726		2203	4300	6503	SO:0001630	splice_region_variant	957				'de novo' posttranslational protein folding|ATP metabolic process|cell growth|cell proliferation|glycolysis|protein N-linked glycosylation|regulation of phosphatidylinositol 3-kinase cascade	endoplasmic reticulum lumen	guanosine-diphosphatase activity|uridine-diphosphatase activity	g.chr14:74443726C>G	AF039918	CCDS9825.1	14q24	2003-10-03	2003-10-03			ENSG00000187097			3367	protein-coding gene	gene with protein product		603162	"""proto-oncogene CPH"""	CD39L4, PCPH		9271669, 9676430	Standard	NM_001249		Approved	NTPDase-5	uc010tuo.2	O75356		ENST00000334696.6:c.553+1G>C	14.37:g.74443726C>G						ENTPD5_uc001xpi.2_Splice_Site_p.G185_splice	p.G185_splice	NM_001249	NP_001240	O75356	ENTP5_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.00394)	8	864	-								A1L4C5|Q96RX0	Splice_Site	SNP	ENST00000334696.6	37	c.553_splice	CCDS9825.1	.	.	.	.	.	.	.	.	.	.	C	23.5	4.425119	0.83667	.	.	ENSG00000187097	ENST00000557325;ENST00000334696;ENST00000553284	.	.	.	5.28	5.28	0.74379	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.0822	0.89444	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	ENTPD5	73513479	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	6.733000	0.74796	2.744000	0.94065	0.655000	0.94253	.		PASS	0.363	ENTPD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412637.1	NM_001249	Intron	43	80	43	80	---	---	---	---
PROX2	283571	broad.mit.edu	37	14	75330491	75330491	+	Missense_Mutation	SNP	G	G	C			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr14:75330491G>C	ENST00000445876.1	-	1	46	c.47C>G	c.(46-48)tCc>tGc	p.S16C	PROX2_ENST00000556084.2_Missense_Mutation_p.S16C|PROX2_ENST00000556489.2_Missense_Mutation_p.S16C			Q3B8N5	PROX2_HUMAN	prospero homeobox 2	16					multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)	p.S16C(2)		kidney(1)|large_intestine(2)|lung(3)	6			KIRC - Kidney renal clear cell carcinoma(43;0.238)	BRCA - Breast invasive adenocarcinoma(234;0.00652)		TGCTAGGTGGGAGCAGATCTG	0.562																																						uc001xqr.1																			2	Substitution - Missense(2)		lung(2)		0						c.(46-48)TCC>TGC		prospero homeobox 2							70.0	71.0	71.0					14																	75330491		1979	4154	6133	SO:0001583	missense	283571				multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	g.chr14:75330491G>C		CCDS45136.1, CCDS45136.2, CCDS73663.1	14q24.3	2012-10-02			ENSG00000119608	ENSG00000119608		"""Homeoboxes / PROS class"""	26715	protein-coding gene	gene with protein product		615094					Standard	NM_001080408		Approved	FLJ36749	uc031qpi.1	Q3B8N5	OTTHUMG00000171481	ENST00000445876.1:c.47C>G	14.37:g.75330491G>C	ENSP00000405932:p.Ser16Cys					PROX2_uc001xqq.1_5'UTR	p.S16C	NM_001080408	NP_001073877	Q3B8N5	PROX2_HUMAN	KIRC - Kidney renal clear cell carcinoma(43;0.238)	BRCA - Breast invasive adenocarcinoma(234;0.00652)	1	47	-			16					C9J5W1|Q8N9Q3	Missense_Mutation	SNP	ENST00000445876.1	37	c.47C>G	CCDS45136.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.38|15.38	2.817322|2.817322	0.50633|0.50633	.|.	.|.	ENSG00000119608|ENSG00000119608	ENST00000556084|ENST00000556489;ENST00000389664;ENST00000424024;ENST00000445876	.|T;T	.|0.51817	.|0.69;0.69	5.58|5.58	1.67|1.67	0.24075|0.24075	.|.	.|0.553928	.|0.15890	.|N	.|0.239618	T|T	0.35828|0.35828	0.0945|0.0945	L|L	0.44542|0.44542	1.39|1.39	0.09310|0.09310	N|N	1|1	.|B	.|0.21071	.|0.051	.|B	.|0.17098	.|0.017	T|T	0.30208|0.30208	-0.9986|-0.9986	5|10	.|0.66056	.|D	.|0.02	.|.	5.7937|5.7937	0.18375|0.18375	0.2962:0.1296:0.5741:0.0|0.2962:0.1296:0.5741:0.0	.|.	.|16	.|G3V3G0	.|.	A|C	16|16	.|ENSP00000451223:S16C;ENSP00000405932:S16C	.|ENSP00000374315:S16C	P|S	-|-	1|2	0|0	PROX2|PROX2	74400244|74400244	0.005000|0.005000	0.15991|0.15991	0.000000|0.000000	0.03702|0.03702	0.244000|0.244000	0.25665|0.25665	0.686000|0.686000	0.25392|0.25392	0.048000|0.048000	0.15891|0.15891	-0.291000|-0.291000	0.09656|0.09656	CCC|TCC		PASS	0.562	PROX2-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding				13	92	13	92	---	---	---	---
NGB	58157	broad.mit.edu	37	14	77732943	77732943	+	Missense_Mutation	SNP	G	G	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr14:77732943G>T	ENST00000298352.4	-	4	766	c.392C>A	c.(391-393)gCt>gAt	p.A131D	MIR1260A_ENST00000408827.1_RNA	NM_021257.3	NP_067080.1	Q9NPG2	NGB_HUMAN	neuroglobin	131	Globin.				apoptotic process (GO:0006915)|oxygen transport (GO:0015671)	mitochondrion (GO:0005739)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxygen binding (GO:0019825)|oxygen transporter activity (GO:0005344)	p.A131D(1)		endometrium(1)|kidney(1)|large_intestine(3)|lung(3)	8			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0273)		GCTCCAGGCAGCCCGTGTGGC	0.637																																						uc001xtg.1																			1	Substitution - Missense(1)		lung(1)		0						c.(391-393)GCT>GAT		neuroglobin							54.0	50.0	51.0					14																	77732943		2203	4300	6503	SO:0001583	missense	58157					hemoglobin complex	heme binding|oxygen binding|oxygen transporter activity	g.chr14:77732943G>T	AJ245946	CCDS9856.1	14q24.3	2014-06-13			ENSG00000165553	ENSG00000165553			14077	protein-coding gene	gene with protein product		605304				11029004, 17210637	Standard	NM_021257		Approved		uc001xtg.1	Q9NPG2	OTTHUMG00000171558	ENST00000298352.4:c.392C>A	14.37:g.77732943G>T	ENSP00000298352:p.Ala131Asp						p.A131D	NM_021257	NP_067080	Q9NPG2	NGB_HUMAN	Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0273)	4	767	-			131			Globin.			Missense_Mutation	SNP	ENST00000298352.4	37	c.392C>A	CCDS9856.1	.	.	.	.	.	.	.	.	.	.	G	9.106	1.005250	0.19199	.	.	ENSG00000165553	ENST00000298352	.	.	.	4.76	2.71	0.32032	Globin-like (1);Globin, structural domain (1);	0.300687	0.36409	N	0.002611	T	0.16514	0.0397	N	0.17594	0.5	0.09310	N	0.999999	B	0.22211	0.066	B	0.06405	0.002	T	0.16571	-1.0398	9	0.13853	T	0.58	.	5.2293	0.15412	0.1112:0.0:0.4806:0.4082	.	131	Q9NPG2	NGB_HUMAN	D	131	.	ENSP00000298352:A131D	A	-	2	0	NGB	76802696	0.998000	0.40836	0.030000	0.17652	0.537000	0.34900	3.195000	0.51013	0.996000	0.38943	0.561000	0.74099	GCT		PASS	0.637	NGB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414194.1	NM_021257		13	65	13	65	---	---	---	---
NRXN3	9369	broad.mit.edu	37	14	79434664	79434664	+	Silent	SNP	C	C	T	rs372334917		TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr14:79434664C>T	ENST00000554719.1	+	11	2489	c.1998C>T	c.(1996-1998)agC>agT	p.S666S	NRXN3_ENST00000335750.5_Silent_p.S666S	NM_004796.4	NP_004787.2	Q9HDB5	NRX3B_HUMAN	neurexin 3	0					adult behavior (GO:0030534)|angiogenesis (GO:0001525)|learning (GO:0007612)|neuron cell-cell adhesion (GO:0007158)|neurotransmitter secretion (GO:0007269)|positive regulation of synapse assembly (GO:0051965)|positive regulation of synapse maturation (GO:0090129)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|vocalization behavior (GO:0071625)	integral component of membrane (GO:0016021)	cell adhesion molecule binding (GO:0050839)|neuroligin family protein binding (GO:0097109)	p.S666S(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(23)|lung(40)|ovary(3)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(9)|urinary_tract(1)	104		Renal(4;0.00876)		BRCA - Breast invasive adenocarcinoma(234;0.00544)|Kidney(3;0.029)|KIRC - Kidney renal clear cell carcinoma(182;0.223)		TTCATCGGAGCGGACAGATCG	0.522																																						uc001xun.2																			1	Substitution - coding silent(1)		lung(1)	ovary(3)|upper_aerodigestive_tract(2)|pancreas(2)|central_nervous_system(1)|breast(1)|skin(1)	10						c.(1996-1998)AGC>AGT		neurexin 3 isoform 1 precursor		C		0,4406		0,0,2203	129.0	108.0	115.0		1998	-4.3	1.0	14		115	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	NRXN3	NM_004796.4		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		666/1062	79434664	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	9369				axon guidance|cell adhesion	integral to plasma membrane	metal ion binding|receptor activity	g.chr14:79434664C>T	AB018286	CCDS9870.1, CCDS9871.1, CCDS45145.1, CCDS61515.1	14q31	2010-01-19				ENSG00000021645			8010	protein-coding gene	gene with protein product		600567	"""chromosome 14 open reading frame 60"""	C14orf60		11944992, 12379233	Standard	NM_004796		Approved	KIAA0743	uc001xun.4	Q9HDB5		ENST00000554719.1:c.1998C>T	14.37:g.79434664C>T						NRXN3_uc001xum.1_RNA|NRXN3_uc010asv.1_Silent_p.S791S	p.S666S	NM_004796	NP_004787	Q9Y4C0	NRX3A_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.00544)|Kidney(3;0.029)|KIRC - Kidney renal clear cell carcinoma(182;0.223)	11	2489	+		Renal(4;0.00876)	1039			Extracellular (Potential).|Laminin G-like 5.		A5PKW8|A8MPU5|B3KPM7|Q6NUR0|Q8IUD8	Silent	SNP	ENST00000554719.1	37	c.1998C>T	CCDS9870.1																																																																																				PASS	0.522	NRXN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413787.1	NM_001105250		13	94	13	94	---	---	---	---
SEL1L	6400	broad.mit.edu	37	14	81956810	81956810	+	Splice_Site	SNP	C	C	G			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr14:81956810C>G	ENST00000336735.4	-	13	1371		c.e13-1			NM_005065.5	NP_005056.3	Q9UBV2	SE1L1_HUMAN	sel-1 suppressor of lin-12-like (C. elegans)						Notch signaling pathway (GO:0007219)|response to endoplasmic reticulum stress (GO:0034976)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)		p.?(1)		breast(2)|central_nervous_system(1)|endometrium(4)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)|prostate(2)|urinary_tract(3)	28				BRCA - Breast invasive adenocarcinoma(234;0.0299)		CCGAATACATCTGGAAAACAG	0.398																																						uc010tvv.1																			1	Unknown(1)		lung(1)	ovary(1)	1						c.e13-1		sel-1 suppressor of lin-12-like precursor							121.0	104.0	110.0					14																	81956810		2203	4300	6503	SO:0001630	splice_region_variant	6400				Notch signaling pathway	endoplasmic reticulum membrane|integral to membrane	protein binding	g.chr14:81956810C>G		CCDS9876.1, CCDS58333.1	14q31	2011-03-31	2001-11-28		ENSG00000071537	ENSG00000071537			10717	protein-coding gene	gene with protein product	"""sel-1 suppressor of lin-12-like 1 (C. elegans)"""	602329	"""sel-1 (suppressor of lin-12, C.elegans)-like"""			9417916, 10051412, 16331677	Standard	NM_005065		Approved	IBD2, SEL1L1	uc010tvv.2	Q9UBV2		ENST00000336735.4:c.1255-1G>C	14.37:g.81956810C>G							p.M419_splice	NM_005065	NP_005056	Q9UBV2	SE1L1_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.0299)	13	1372	-								Q6UWT6|Q9P1T9|Q9UHK7	Splice_Site	SNP	ENST00000336735.4	37	c.1255_splice	CCDS9876.1	.	.	.	.	.	.	.	.	.	.	C	20.5	3.997807	0.74818	.	.	ENSG00000071537	ENST00000336735	.	.	.	5.84	5.84	0.93424	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.1551	0.98106	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	SEL1L	81026563	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	7.039000	0.76544	2.760000	0.94817	0.655000	0.94253	.		PASS	0.398	SEL1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413325.1	NM_005065	Intron	21	86	21	86	---	---	---	---
GPR65	8477	broad.mit.edu	37	14	88478168	88478168	+	Missense_Mutation	SNP	C	C	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr14:88478168C>A	ENST00000267549.3	+	2	1535	c.977C>A	c.(976-978)tCt>tAt	p.S326Y	RP11-300J18.2_ENST00000554433.1_RNA	NM_003608.3	NP_003599.2	Q8IYL9	PSYR_HUMAN	G protein-coupled receptor 65	326					actin cytoskeleton reorganization (GO:0031532)|activation of Rho GTPase activity (GO:0032862)|apoptotic process (GO:0006915)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|multicellular organismal development (GO:0007275)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of stress fiber assembly (GO:0051496)|response to acidic pH (GO:0010447)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.S326Y(1)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|prostate(1)	16						CTTTCTGTGTCTACAAAAGAT	0.343																																						uc001xvv.2																			1	Substitution - Missense(1)		lung(1)		0						c.(976-978)TCT>TAT		G protein-coupled receptor 65							61.0	62.0	62.0					14																	88478168		2203	4300	6503	SO:0001583	missense	8477				actin cytoskeleton reorganization|activation of Rho GTPase activity|apoptosis|immune response|multicellular organismal development|positive regulation of cAMP biosynthetic process|positive regulation of stress fiber assembly|response to acidity	integral to plasma membrane	G-protein coupled receptor activity	g.chr14:88478168C>A	U95218	CCDS9879.1	14q31-q32.1	2012-08-21			ENSG00000140030	ENSG00000140030		"""GPCR / Class A : Orphans"""	4517	protein-coding gene	gene with protein product		604620				9655242	Standard	NM_003608		Approved	hTDAG8, TDAG8	uc001xvv.3	Q8IYL9	OTTHUMG00000028648	ENST00000267549.3:c.977C>A	14.37:g.88478168C>A	ENSP00000267549:p.Ser326Tyr						p.S326Y	NM_003608	NP_003599	Q8IYL9	PSYR_HUMAN			2	1507	+			326			Cytoplasmic (Potential).		O75819	Missense_Mutation	SNP	ENST00000267549.3	37	c.977C>A	CCDS9879.1	.	.	.	.	.	.	.	.	.	.	C	19.72	3.880719	0.72294	.	.	ENSG00000140030	ENST00000267549	T	0.61742	0.08	5.64	5.64	0.86602	.	0.454348	0.18896	N	0.128175	T	0.53061	0.1773	N	0.08118	0	0.39424	D	0.966978	D	0.69078	0.997	D	0.65573	0.936	T	0.46062	-0.9218	10	0.02654	T	1	.	17.8931	0.88878	0.0:1.0:0.0:0.0	.	326	Q8IYL9	PSYR_HUMAN	Y	326	ENSP00000267549:S326Y	ENSP00000267549:S326Y	S	+	2	0	GPR65	87547921	1.000000	0.71417	0.994000	0.49952	0.851000	0.48451	3.063000	0.49978	2.664000	0.90586	0.650000	0.86243	TCT		PASS	0.343	GPR65-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071564.4			16	62	16	62	---	---	---	---
KCNK10	54207	broad.mit.edu	37	14	88652436	88652436	+	Missense_Mutation	SNP	T	T	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr14:88652436T>A	ENST00000340700.5	-	7	1511	c.1060A>T	c.(1060-1062)Aca>Tca	p.T354S	KCNK10_ENST00000319231.5_Missense_Mutation_p.T359S|KCNK10_ENST00000312350.5_Missense_Mutation_p.T359S	NM_021161.4	NP_066984.1	P57789	KCNKA_HUMAN	potassium channel, subfamily K, member 10	354					signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transport (GO:0006810)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	potassium channel activity (GO:0005267)|voltage-gated ion channel activity (GO:0005244)	p.T359S(2)|p.T354S(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(3)|pancreas(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	47						CTTCGCCGTGTCTCCCGGAAC	0.632																																						uc001xwo.2																			3	Substitution - Missense(3)		lung(3)	ovary(2)|skin(2)|pancreas(1)	5						c.(1060-1062)ACA>TCA		potassium channel, subfamily K, member 10							35.0	23.0	27.0					14																	88652436		2188	4281	6469	SO:0001583	missense	54207				signal transduction	integral to membrane	potassium channel activity|voltage-gated ion channel activity	g.chr14:88652436T>A	AF279890	CCDS9880.1, CCDS9881.1, CCDS9882.1	14q31	2014-06-12						"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Two-P"""	6273	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 97"""	605873				10880510, 16382106	Standard	NM_021161		Approved	K2p10.1, TREK-2, TREK2, PPP1R97	uc001xwn.3	P57789		ENST00000340700.5:c.1060A>T	14.37:g.88652436T>A	ENSP00000343104:p.Thr354Ser					KCNK10_uc001xwm.2_Missense_Mutation_p.T359S|KCNK10_uc001xwn.2_Missense_Mutation_p.T359S	p.T354S	NM_021161	NP_066984	P57789	KCNKA_HUMAN			7	1517	-			354			Cytoplasmic (Potential).		B2R8T4|B2RCT3|B5TJL4|Q6B014|Q8TDK7|Q8TDK8|Q9HB59	Missense_Mutation	SNP	ENST00000340700.5	37	c.1060A>T	CCDS9880.1	.	.	.	.	.	.	.	.	.	.	T	24.9	4.578942	0.86645	.	.	ENSG00000100433	ENST00000340700;ENST00000312350;ENST00000319231	T;T;T	0.22743	1.94;1.94;1.94	5.75	5.75	0.90469	.	0.000000	0.85682	D	0.000000	T	0.38374	0.1038	L	0.55990	1.75	0.80722	D	1	D;D;P	0.61697	0.99;0.99;0.945	D;D;P	0.63283	0.913;0.913;0.621	T	0.04165	-1.0972	10	0.27785	T	0.31	.	15.2434	0.73488	0.0:0.0:0.0:1.0	.	354;359;359	P57789;B2R8T4;Q6B014	KCNKA_HUMAN;.;.	S	354;359;359	ENSP00000343104:T354S;ENSP00000310568:T359S;ENSP00000312811:T359S	ENSP00000310568:T359S	T	-	1	0	KCNK10	87722189	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	8.020000	0.88740	2.195000	0.70347	0.533000	0.62120	ACA		PASS	0.632	KCNK10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410167.1	NM_021161		7	27	7	27	---	---	---	---
KCNK10	54207	broad.mit.edu	37	14	88654339	88654339	+	Missense_Mutation	SNP	C	C	G	rs149714386		TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr14:88654339C>G	ENST00000340700.5	-	6	1419	c.968G>C	c.(967-969)cGg>cCg	p.R323P	KCNK10_ENST00000319231.5_Missense_Mutation_p.R328P|KCNK10_ENST00000312350.5_Missense_Mutation_p.R328P	NM_021161.4	NP_066984.1	P57789	KCNKA_HUMAN	potassium channel, subfamily K, member 10	323					signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transport (GO:0006810)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	potassium channel activity (GO:0005267)|voltage-gated ion channel activity (GO:0005244)	p.R328P(2)|p.R323Q(1)|p.R323P(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(3)|pancreas(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	47						GGACAGAACCCGTAGCCAATC	0.473																																						uc001xwo.2																			4	Substitution - Missense(4)	p.R323Q(1)	lung(3)|skin(1)	ovary(2)|skin(2)|pancreas(1)	5						c.(967-969)CGG>CCG		potassium channel, subfamily K, member 10							145.0	145.0	145.0					14																	88654339		2203	4300	6503	SO:0001583	missense	54207				signal transduction	integral to membrane	potassium channel activity|voltage-gated ion channel activity	g.chr14:88654339C>G	AF279890	CCDS9880.1, CCDS9881.1, CCDS9882.1	14q31	2014-06-12						"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Two-P"""	6273	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 97"""	605873				10880510, 16382106	Standard	NM_021161		Approved	K2p10.1, TREK-2, TREK2, PPP1R97	uc001xwn.3	P57789		ENST00000340700.5:c.968G>C	14.37:g.88654339C>G	ENSP00000343104:p.Arg323Pro					KCNK10_uc001xwm.2_Missense_Mutation_p.R328P|KCNK10_uc001xwn.2_Missense_Mutation_p.R328P	p.R323P	NM_021161	NP_066984	P57789	KCNKA_HUMAN			6	1425	-			323			Cytoplasmic (Potential).		B2R8T4|B2RCT3|B5TJL4|Q6B014|Q8TDK7|Q8TDK8|Q9HB59	Missense_Mutation	SNP	ENST00000340700.5	37	c.968G>C	CCDS9880.1	.	.	.	.	.	.	.	.	.	.	C	25.0	4.594116	0.86953	.	.	ENSG00000100433	ENST00000340700;ENST00000312350;ENST00000319231	T;T;T	0.24151	1.87;1.87;1.87	5.82	5.82	0.92795	Ion transport 2 (1);	0.057078	0.64402	D	0.000002	T	0.58278	0.2111	M	0.85945	2.785	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.77557	0.985;0.985;0.99	T	0.62746	-0.6789	10	0.87932	D	0	.	19.0811	0.93182	0.0:1.0:0.0:0.0	.	323;328;328	P57789;B2R8T4;Q6B014	KCNKA_HUMAN;.;.	P	323;328;328	ENSP00000343104:R323P;ENSP00000310568:R328P;ENSP00000312811:R328P	ENSP00000310568:R328P	R	-	2	0	KCNK10	87724092	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.951000	0.63610	2.756000	0.94617	0.561000	0.74099	CGG		PASS	0.473	KCNK10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410167.1	NM_021161		48	111	48	111	---	---	---	---
SLC24A4	123041	broad.mit.edu	37	14	92953010	92953010	+	Splice_Site	SNP	G	G	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr14:92953010G>A	ENST00000532405.1	+	14	1649	c.1423G>A	c.(1423-1425)Gtg>Atg	p.V475M	SLC24A4_ENST00000393265.2_Splice_Site_p.V411M|SLC24A4_ENST00000531433.1_Splice_Site_p.V456M|SLC24A4_ENST00000298877.1_Splice_Site_p.V458M|SLC24A4_ENST00000351924.5_Splice_Site_p.V439M			Q8NFF2	NCKX4_HUMAN	solute carrier family 24 (sodium/potassium/calcium exchanger), member 4	475					amelogenesis (GO:0097186)|cellular calcium ion homeostasis (GO:0006874)|ion transport (GO:0006811)|response to stimulus (GO:0050896)|sensory perception of smell (GO:0007608)|transmembrane transport (GO:0055085)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium, potassium:sodium antiporter activity (GO:0008273)|symporter activity (GO:0015293)	p.V458M(1)		breast(3)|endometrium(2)|kidney(2)|large_intestine(6)|lung(20)|ovary(2)|skin(1)	36		all_cancers(154;0.0347)|all_epithelial(191;0.163)		Colorectal(1;0.00242)|COAD - Colon adenocarcinoma(157;0.047)|Epithelial(152;0.0781)|READ - Rectum adenocarcinoma(1;0.176)|all cancers(159;0.182)		CATTCTGCAGGTGACTATTAT	0.463																																					NSCLC(10;315 435 10383 28450 38798)	uc001yak.2																			1	Substitution - Missense(1)		lung(1)	breast(2)|ovary(1)	3						c.(1372-1374)GTG>ATG		solute carrier family 24 member 4 isoform 1							137.0	96.0	110.0					14																	92953010		2203	4300	6503	SO:0001630	splice_region_variant	123041					integral to membrane|plasma membrane	calcium, potassium:sodium antiporter activity|symporter activity	g.chr14:92953010G>A	AF520704	CCDS9903.1, CCDS45155.1, CCDS45156.1, CCDS9903.2, CCDS45155.2	14q32.12	2013-05-22			ENSG00000140090	ENSG00000140090		"""Solute carriers"""	10978	protein-coding gene	gene with protein product		609840					Standard	NM_153646		Approved	NCKX4	uc001yak.3	Q8NFF2	OTTHUMG00000167589	ENST00000532405.1:c.1423-1G>A	14.37:g.92953010G>A						SLC24A4_uc001yai.2_Missense_Mutation_p.V411M|SLC24A4_uc010twm.1_Missense_Mutation_p.V456M|SLC24A4_uc001yaj.2_Missense_Mutation_p.V439M|SLC24A4_uc010auj.2_Missense_Mutation_p.V347M|SLC24A4_uc010twn.1_Missense_Mutation_p.V231M|SLC24A4_uc001yan.2_Missense_Mutation_p.V169M	p.V458M	NM_153646	NP_705932	Q8NFF2	NCKX4_HUMAN		Colorectal(1;0.00242)|COAD - Colon adenocarcinoma(157;0.047)|Epithelial(152;0.0781)|READ - Rectum adenocarcinoma(1;0.176)|all cancers(159;0.182)	14	1396	+		all_cancers(154;0.0347)|all_epithelial(191;0.163)	475			Helical; (Potential).		B4DHE7|B9ZVY2|Q8N8U6|Q8NCX1|Q8NFF0|Q8NFF1	Missense_Mutation	SNP	ENST00000532405.1	37	c.1372G>A	CCDS9903.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	g|g	21.3|21.3	4.132751|4.132751	0.77662|0.77662	.|.	.|.	ENSG00000140090|ENSG00000140090	ENST00000525557|ENST00000393265;ENST00000531433;ENST00000532405;ENST00000298877;ENST00000351924	.|T;T;T;T;T	.|0.81415	.|0.24;-0.02;0.24;0.24;-1.49	4.95|4.95	4.95|4.95	0.65309|0.65309	.|Sodium/calcium exchanger membrane region (1);	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.89760|0.89760	0.6808|0.6808	M|M	0.77406|0.77406	2.37|2.37	0.80722|0.80722	D|D	1|1	.|D;D;D	.|0.89917	.|1.0;1.0;0.988	.|D;D;D	.|0.97110	.|0.998;1.0;0.947	D|D	0.90065|0.90065	0.4159|0.4159	5|9	.|.	.|.	.|.	.|.	18.2116|18.2116	0.89872|0.89872	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|456;411;475	.|Q8NFF2-3;Q8NFF2-2;Q8NFF2	.|.;.;NCKX4_HUMAN	D|M	340|411;456;475;458;439	.|ENSP00000376948:V411M;ENSP00000433302:V456M;ENSP00000431840:V475M;ENSP00000298877:V458M;ENSP00000337789:V439M	.|.	G|V	+|+	2|1	0|0	SLC24A4|SLC24A4	92022763|92022763	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.630000|0.630000	0.37929|0.37929	9.572000|9.572000	0.98179|0.98179	2.293000|2.293000	0.77203|0.77203	0.561000|0.561000	0.74099|0.74099	GGT|GTG		PASS	0.463	SLC24A4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000395240.1	NM_153646	Missense_Mutation	12	48	12	48	---	---	---	---
UBR7	55148	broad.mit.edu	37	14	93686750	93686750	+	Silent	SNP	C	C	G			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr14:93686750C>G	ENST00000013070.6	+	9	1352	c.1116C>G	c.(1114-1116)ctC>ctG	p.L372L	UBR7_ENST00000416753.1_Silent_p.L296L	NM_175748.3	NP_786924.2	Q8N806	UBR7_HUMAN	ubiquitin protein ligase E3 component n-recognin 7 (putative)	372							ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.L372L(1)		breast(2)|endometrium(2)|large_intestine(2)|lung(12)|urinary_tract(1)	19						AAGTGGAACTCATTTGTGGTA	0.383																																						uc001ybm.3																			1	Substitution - coding silent(1)		lung(1)		0						c.(1114-1116)CTC>CTG		ubiquitin protein ligase E3 component n-recognin							112.0	108.0	110.0					14																	93686750		2203	4300	6503	SO:0001819	synonymous_variant	55148						ubiquitin-protein ligase activity|zinc ion binding	g.chr14:93686750C>G	AK001345	CCDS9909.1	14q32.12	2008-06-23	2008-06-23	2008-06-23		ENSG00000012963		"""Ubiquitin protein ligase E3 component n-recognins"""	20344	protein-coding gene	gene with protein product		613816	"""chromosome 14 open reading frame 130"""	C14orf130		18162545	Standard	NM_175748		Approved		uc001ybm.4	Q8N806		ENST00000013070.6:c.1116C>G	14.37:g.93686750C>G						UBR7_uc001ybn.3_Silent_p.L296L|UBR7_uc010auq.2_Silent_p.L221L	p.L372L	NM_175748	NP_786924	Q8N806	UBR7_HUMAN			9	1352	+			372					Q86U21|Q86UA9|Q96BY0|Q9NVV6	Silent	SNP	ENST00000013070.6	37	c.1116C>G	CCDS9909.1	.	.	.	.	.	.	.	.	.	.	C	3.432	-0.115947	0.06881	.	.	ENSG00000012963	ENST00000555329	.	.	.	5.79	-11.6	0.00059	.	.	.	.	.	T	0.41259	0.1151	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.51348	-0.8717	4	.	.	.	-5.1623	5.547	0.17069	0.148:0.413:0.3344:0.1046	.	.	.	.	D	71	.	.	H	+	1	0	UBR7	92756503	0.088000	0.21588	0.091000	0.20842	0.653000	0.38743	-0.807000	0.04520	-2.923000	0.00303	-1.081000	0.02215	CAT		PASS	0.383	UBR7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412693.1	NM_175748		47	144	47	144	---	---	---	---
SERPINA4	5267	broad.mit.edu	37	14	95033367	95033367	+	Missense_Mutation	SNP	A	A	G			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr14:95033367A>G	ENST00000557004.1	+	3	1131	c.710A>G	c.(709-711)gAg>gGg	p.E237G	SERPINA5_ENST00000553780.1_Intron|SERPINA4_ENST00000298841.5_Missense_Mutation_p.E237G|SERPINA4_ENST00000555095.1_Missense_Mutation_p.E237G			P29622	KAIN_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 4	237					negative regulation of endopeptidase activity (GO:0010951)|regulation of proteolysis (GO:0030162)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	serine-type endopeptidase inhibitor activity (GO:0004867)	p.E237G(1)		breast(2)|endometrium(1)|kidney(1)|large_intestine(9)|lung(28)|ovary(3)|skin(1)|urinary_tract(1)	46				COAD - Colon adenocarcinoma(157;0.211)		TATGTTGATGAGAACACAACA	0.502																																						uc001ydk.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|skin(1)	4						c.(709-711)GAG>GGG		serine (or cysteine) proteinase inhibitor, clade							113.0	102.0	106.0					14																	95033367		2203	4300	6503	SO:0001583	missense	5267				regulation of proteolysis	extracellular space	serine-type endopeptidase inhibitor activity	g.chr14:95033367A>G	L19684	CCDS9927.1	14q32.13	2014-02-18	2005-08-18		ENSG00000100665	ENSG00000100665		"""Serine (or cysteine) peptidase inhibitors"""	8948	protein-coding gene	gene with protein product		147935	"""serine (or cysteine) proteinase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 4"""	PI4		8227002, 24172014	Standard	NM_001289032		Approved	KST, KAL, KLST, kallistatin	uc001ydk.3	P29622	OTTHUMG00000170859	ENST00000557004.1:c.710A>G	14.37:g.95033367A>G	ENSP00000450838:p.Glu237Gly					SERPINA4_uc010avd.2_Missense_Mutation_p.E274G|SERPINA4_uc001ydl.2_Missense_Mutation_p.E237G	p.E237G	NM_006215	NP_006206	P29622	KAIN_HUMAN		COAD - Colon adenocarcinoma(157;0.211)	3	776	+			237					Q53XB5|Q86TR9|Q96BZ5	Missense_Mutation	SNP	ENST00000557004.1	37	c.710A>G	CCDS9927.1	.	.	.	.	.	.	.	.	.	.	A	14.08	2.429618	0.43122	.	.	ENSG00000100665	ENST00000557004;ENST00000555095;ENST00000298841	D;D;D	0.82711	-1.64;-1.64;-1.64	4.44	3.26	0.37387	Serpin domain (3);	0.125126	0.33792	N	0.004552	T	0.78496	0.4292	L	0.48362	1.52	0.80722	D	1	B;B	0.24882	0.045;0.113	B;B	0.31547	0.049;0.132	T	0.74250	-0.3726	10	0.62326	D	0.03	.	10.4607	0.44578	0.8362:0.1638:0.0:0.0	.	237;237	B2R815;P29622	.;KAIN_HUMAN	G	237	ENSP00000450838:E237G;ENSP00000451172:E237G;ENSP00000298841:E237G	ENSP00000298841:E237G	E	+	2	0	SERPINA4	94103120	0.000000	0.05858	0.008000	0.14137	0.003000	0.03518	-0.044000	0.12023	0.631000	0.30412	0.459000	0.35465	GAG		PASS	0.502	SERPINA4-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410718.1	NM_006215		44	66	44	66	---	---	---	---
ATG2B	55102	broad.mit.edu	37	14	96777530	96777530	+	Missense_Mutation	SNP	T	T	C			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr14:96777530T>C	ENST00000359933.4	-	28	4978	c.4085A>G	c.(4084-4086)tAc>tGc	p.Y1362C	ATG2B_ENST00000261834.5_5'UTR	NM_018036.5	NP_060506	Q96BY7	ATG2B_HUMAN	autophagy related 2B	1362					autophagic vacuole assembly (GO:0000045)|cellular response to nitrogen starvation (GO:0006995)|mitochondrion degradation (GO:0000422)|nucleophagy (GO:0044804)	extrinsic component of membrane (GO:0019898)|lipid particle (GO:0005811)|pre-autophagosomal structure (GO:0000407)		p.Y1362C(1)		breast(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(11)|liver(1)|lung(26)|ovary(1)|prostate(1)|skin(1)|urinary_tract(7)	64		all_cancers(154;0.0462)|all_epithelial(191;0.123)|Melanoma(154;0.155)		Epithelial(152;0.21)|COAD - Colon adenocarcinoma(157;0.244)		GCTTGCAATGTACTGAATGAG	0.468																																						uc001yfi.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|kidney(1)|skin(1)	3						c.(4084-4086)TAC>TGC		ATG2 autophagy related 2 homolog B							206.0	194.0	198.0					14																	96777530		2203	4300	6503	SO:0001583	missense	55102							g.chr14:96777530T>C	AK001104	CCDS9944.2	14q32.31	2014-02-12	2012-06-06	2007-07-31	ENSG00000066739	ENSG00000066739			20187	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 103"", ""ATG2 autophagy related 2 homolog B (S. cerevisiae)"""	C14orf103		22350415	Standard	NM_018036		Approved	FLJ10242	uc001yfi.3	Q96BY7	OTTHUMG00000149933	ENST00000359933.4:c.4085A>G	14.37:g.96777530T>C	ENSP00000353010:p.Tyr1362Cys						p.Y1362C	NM_018036	NP_060506	Q96BY7	ATG2B_HUMAN		Epithelial(152;0.21)|COAD - Colon adenocarcinoma(157;0.244)	28	4450	-		all_cancers(154;0.0462)|all_epithelial(191;0.123)|Melanoma(154;0.155)	1362					Q6ZRE7|Q96DQ3|Q9NW80	Missense_Mutation	SNP	ENST00000359933.4	37	c.4085A>G	CCDS9944.2	.	.	.	.	.	.	.	.	.	.	T	26.1	4.704107	0.88924	.	.	ENSG00000066739	ENST00000359933	T	0.15017	2.46	5.48	5.48	0.80851	.	0.249494	0.41938	D	0.000795	T	0.44603	0.1301	M	0.78456	2.415	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.46735	-0.9170	10	0.87932	D	0	.	15.5924	0.76543	0.0:0.0:0.0:1.0	.	1362	Q96BY7	ATG2B_HUMAN	C	1362	ENSP00000353010:Y1362C	ENSP00000261834:Y6C	Y	-	2	0	ATG2B	95847283	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.424000	0.80242	2.084000	0.62774	0.533000	0.62120	TAC		PASS	0.468	ATG2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000314037.1	NM_018036		106	156	106	156	---	---	---	---
DYNC1H1	1778	broad.mit.edu	37	14	102510221	102510221	+	Nonsense_Mutation	SNP	G	G	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr14:102510221G>T	ENST00000360184.4	+	70	12687	c.12523G>T	c.(12523-12525)Gag>Tag	p.E4175*	RP11-1017G21.4_ENST00000553701.1_RNA|RP11-1017G21.4_ENST00000557551.1_RNA|RP11-1017G21.4_ENST00000557242.1_RNA	NM_001376.4	NP_001367.2	Q14204	DYHC1_HUMAN	dynein, cytoplasmic 1, heavy chain 1	4175	AAA 6. {ECO:0000250}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cell death (GO:0008219)|cytoplasmic mRNA processing body assembly (GO:0033962)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic spindle organization (GO:0007052)|stress granule assembly (GO:0034063)|transport (GO:0006810)	centrosome (GO:0005813)|cytoplasmic dynein complex (GO:0005868)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|membrane (GO:0016020)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|poly(A) RNA binding (GO:0044822)	p.E4175*(1)		NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	166						GTCTCCCAACGAGCGTGCCCG	0.498																																						uc001yks.2																			1	Substitution - Nonsense(1)		lung(1)	ovary(7)|central_nervous_system(2)|pancreas(1)	10						c.(12523-12525)GAG>TAG		cytoplasmic dynein 1 heavy chain 1							89.0	85.0	86.0					14																	102510221		2203	4300	6503	SO:0001587	stop_gained	1778				cytoplasmic mRNA processing body assembly|G2/M transition of mitotic cell cycle|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport	centrosome|cytoplasmic dynein complex|cytosol|Golgi apparatus|microtubule	ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding	g.chr14:102510221G>T	AB002323	CCDS9966.1	14q32.31	2006-12-21	2005-11-24	2005-11-24		ENSG00000197102		"""Cytoplasmic dyneins"""	2961	protein-coding gene	gene with protein product		600112	"""dynein, cytoplasmic, heavy polypeptide 1"""	DNECL, DNCL, DNCH1		16260502, 8666668	Standard	NM_001376		Approved	Dnchc1, HL-3, p22, DHC1	uc001yks.2	Q14204		ENST00000360184.4:c.12523G>T	14.37:g.102510221G>T	ENSP00000348965:p.Glu4175*						p.E4175*	NM_001376	NP_001367	Q14204	DYHC1_HUMAN			70	12687	+			4175			AAA 6 (By similarity).		B0I1R0|Q6DKQ7|Q8WU28|Q92814|Q9Y4G5	Nonsense_Mutation	SNP	ENST00000360184.4	37	c.12523G>T	CCDS9966.1	.	.	.	.	.	.	.	.	.	.	G	55	23.734234	0.99957	.	.	ENSG00000197102	ENST00000360184	.	.	.	6.07	6.07	0.98685	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.42905	T	0.14	.	20.6439	0.99570	0.0:0.0:1.0:0.0	.	.	.	.	X	4175	.	ENSP00000348965:E4175X	E	+	1	0	DYNC1H1	101579974	1.000000	0.71417	0.999000	0.59377	0.909000	0.53808	9.869000	0.99810	2.884000	0.98904	0.655000	0.94253	GAG		PASS	0.498	DYNC1H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414574.1	NM_001376		28	42	28	42	---	---	---	---
TDRD9	122402	broad.mit.edu	37	14	104472878	104472878	+	Silent	SNP	A	A	G	rs551622818		TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr14:104472878A>G	ENST00000409874.4	+	16	1914	c.1866A>G	c.(1864-1866)gaA>gaG	p.E622E	TDRD9_ENST00000339063.5_Silent_p.E622E	NM_153046.2	NP_694591.2	Q8NDG6	TDRD9_HUMAN	tudor domain containing 9	622					cell differentiation (GO:0030154)|DNA methylation involved in gamete generation (GO:0043046)|fertilization (GO:0009566)|gene silencing by RNA (GO:0031047)|male meiosis (GO:0007140)|multicellular organismal development (GO:0007275)|piRNA metabolic process (GO:0034587)|spermatogenesis (GO:0007283)	nucleus (GO:0005634)|piP-body (GO:0071547)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|nucleic acid binding (GO:0003676)	p.E622E(1)|p.E337E(1)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	33		all_cancers(154;0.109)|Melanoma(154;0.0525)|all_epithelial(191;0.0768)				GTCTAGATGAATGTCTTATTA	0.338																																						uc001yom.3																			2	Substitution - coding silent(2)		lung(2)	ovary(2)|central_nervous_system(1)	3						c.(1864-1866)GAA>GAG		tudor domain containing 9							67.0	65.0	66.0					14																	104472878		2203	4300	6503	SO:0001819	synonymous_variant	122402				cell differentiation|DNA methylation involved in gamete generation|fertilization|gene silencing by RNA|male meiosis|multicellular organismal development|piRNA metabolic process|spermatogenesis	nucleus|piP-body	ATP binding|ATP-dependent helicase activity|nucleic acid binding	g.chr14:104472878A>G	AK093483	CCDS9987.2	14q32.33	2013-01-23	2004-04-01	2004-04-02	ENSG00000156414	ENSG00000156414		"""Tudor domain containing"""	20122	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 75"""	C14orf75			Standard	NM_153046		Approved	DKFZp434N0820, FLJ36164, NET54	uc001yom.4	Q8NDG6	OTTHUMG00000152876	ENST00000409874.4:c.1866A>G	14.37:g.104472878A>G						TDRD9_uc001yon.3_Silent_p.E360E	p.E622E	NM_153046	NP_694591	Q8NDG6	TDRD9_HUMAN			16	1896	+		all_cancers(154;0.109)|Melanoma(154;0.0525)|all_epithelial(191;0.0768)	622					A1A4S7|Q6ZU54|Q8N7T3|Q8N827|Q8N9V5|Q96AS9	Silent	SNP	ENST00000409874.4	37	c.1866A>G	CCDS9987.2	.	.	.	.	.	.	.	.	.	.	A	8.846	0.943457	0.18281	.	.	ENSG00000156414	ENST00000557332	.	.	.	5.48	-3.7	0.04437	.	.	.	.	.	T	0.62950	0.2470	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.62310	-0.6881	4	.	.	.	.	13.6606	0.62366	0.5994:0.0:0.4006:0.0	.	.	.	.	V	349	.	.	M	+	1	0	TDRD9	103542631	0.015000	0.18098	0.891000	0.34965	0.990000	0.78478	-0.953000	0.03877	-0.624000	0.05611	-0.400000	0.06385	ATG		PASS	0.338	TDRD9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328325.3	NM_153046		23	38	23	38	---	---	---	---
AHNAK2	113146	broad.mit.edu	37	14	105409082	105409082	+	Missense_Mutation	SNP	C	C	A	rs551536286	byFrequency	TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr14:105409082C>A	ENST00000333244.5	-	7	12825	c.12706G>T	c.(12706-12708)Gtg>Ttg	p.V4236L	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	4236						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.V4236L(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)			TTGACATCCACCTGGGGGCCC	0.652																																						uc010axc.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(12706-12708)GTG>TTG		AHNAK nucleoprotein 2							109.0	120.0	116.0					14																	105409082		1863	4098	5961	SO:0001583	missense	113146					nucleus		g.chr14:105409082C>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.12706G>T	14.37:g.105409082C>A	ENSP00000353114:p.Val4236Leu					AHNAK2_uc001ypx.2_Missense_Mutation_p.V4136L	p.V4236L	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	12826	-		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	4236					Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Missense_Mutation	SNP	ENST00000333244.5	37	c.12706G>T	CCDS45177.1	.	.	.	.	.	.	.	.	.	.	c	10.51	1.369850	0.24771	.	.	ENSG00000185567	ENST00000333244	T	0.03301	3.98	3.06	1.22	0.21188	.	1.015390	0.07962	U	0.982590	T	0.11623	0.0283	L	0.56396	1.775	0.25394	N	0.988505	D	0.59767	0.986	D	0.65443	0.935	T	0.30416	-0.9979	10	0.35671	T	0.21	-14.8053	6.9786	0.24690	0.0:0.7081:0.0:0.2919	.	4236	Q8IVF2	AHNK2_HUMAN	L	4236	ENSP00000353114:V4236L	ENSP00000353114:V4236L	V	-	1	0	AHNAK2	104480127	0.004000	0.15560	0.009000	0.14445	0.001000	0.01503	-0.020000	0.12525	0.076000	0.16826	-1.922000	0.00515	GTG		PASS	0.652	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410300.1	NM_138420		125	155	125	155	---	---	---	---
AHNAK2	113146	broad.mit.edu	37	14	105414415	105414415	+	Missense_Mutation	SNP	G	G	A	rs553916130		TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr14:105414415G>A	ENST00000333244.5	-	7	7492	c.7373C>T	c.(7372-7374)gCc>gTc	p.A2458V	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	2458						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.A2458V(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)			ATCCAGCTTGGCTCCCGGGGC	0.622													.|||	1	0.000199681	0.0	0.0	5008	,	,		17166	0.001		0.0	False		,,,				2504	0.0					uc010axc.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(7372-7374)GCC>GTC		AHNAK nucleoprotein 2							123.0	145.0	138.0					14																	105414415		2050	4189	6239	SO:0001583	missense	113146					nucleus		g.chr14:105414415G>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.7373C>T	14.37:g.105414415G>A	ENSP00000353114:p.Ala2458Val					AHNAK2_uc001ypx.2_Missense_Mutation_p.A2358V	p.A2458V	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	7493	-		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	2458					Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Missense_Mutation	SNP	ENST00000333244.5	37	c.7373C>T	CCDS45177.1	.	.	.	.	.	.	.	.	.	.	-	12.30	1.896522	0.33442	.	.	ENSG00000185567	ENST00000333244	T	0.00932	5.53	3.74	-0.0314	0.13910	.	.	.	.	.	T	0.00724	0.0024	L	0.28649	0.875	0.09310	N	1	B	0.25169	0.119	B	0.26202	0.067	T	0.48658	-0.9016	9	0.22109	T	0.4	.	0.3323	0.00320	0.2324:0.2284:0.3072:0.232	.	2458	Q8IVF2	AHNK2_HUMAN	V	2458	ENSP00000353114:A2458V	ENSP00000353114:A2458V	A	-	2	0	AHNAK2	104485460	0.000000	0.05858	0.001000	0.08648	0.004000	0.04260	-0.312000	0.08113	0.514000	0.28300	0.485000	0.47835	GCC		PASS	0.622	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410300.1	NM_138420		109	135	109	135	---	---	---	---
IGHA1	3493	broad.mit.edu	37	14	106174975	106174975	+	RNA	SNP	G	G	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr14:106174975G>T	ENST00000390547.2	-	0	27							P01876	IGHA1_HUMAN	immunoglobulin heavy constant alpha 1						antibacterial humoral response (GO:0019731)|glomerular filtration (GO:0003094)|immune response (GO:0006955)|positive regulation of respiratory burst (GO:0060267)|protein-chromophore linkage (GO:0018298)|retina homeostasis (GO:0001895)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|monomeric IgA immunoglobulin complex (GO:0071748)|secretory dimeric IgA immunoglobulin complex (GO:0071752)|secretory IgA immunoglobulin complex (GO:0071751)	antigen binding (GO:0003823)										AGGCTCAGCGGGAAGACCTTG	0.617																																						uc010tyt.1																			0					0								Parts of antibodies, mostly variable regions.							39.0	55.0	50.0					14																	106174975		2074	4214	6288			8755							g.chr14:106174975G>T	J00220		14q32.33	2012-10-02			ENSG00000211895	ENSG00000211895		"""Immunoglobulins / IGH locus"""	5478	other	immunoglobulin gene		146900					Standard	NG_001019		Approved			P01876	OTTHUMG00000152494		14.37:g.106174975G>T						uc001yrs.2_Intron|uc001yrt.2_Intron|uc001yrw.1_Intron|uc001yrx.1_Intron|uc001yrz.1_Intron								3631		-									RNA	SNP	ENST00000390547.2	37	c.59359C>A																																																																																					PASS	0.617	IGHA1-001	KNOWN	mRNA_start_NF|cds_start_NF|basic|appris_principal	IG_C_gene	IG_C_gene	OTTHUMT00000326459.1	NG_001019		9	59	9	59	---	---	---	---
IGHV3-33	28434	broad.mit.edu	37	14	106815966	106815966	+	RNA	SNP	G	G	C			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr14:106815966G>C	ENST00000390615.2	-	0	186									immunoglobulin heavy variable 3-33																		GAGTCTCAGGGACCTCCCAGG	0.597																																						uc010tyt.1																			0					0								Parts of antibodies, mostly variable regions.							73.0	82.0	79.0					14																	106815966		1841	4050	5891			8755							g.chr14:106815966G>C	L06618		14q32.33	2012-02-10			ENSG00000211955	ENSG00000211955		"""Immunoglobulins / IGH locus"""	5596	other	immunoglobulin gene							Standard	NG_001019		Approved				OTTHUMG00000152077		14.37:g.106815966G>C														342		-									RNA	SNP	ENST00000390615.2	37	c.13193C>G																																																																																					PASS	0.597	IGHV3-33-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IG_V_gene	OTTHUMT00000325171.1	NG_001019		35	127	35	127	---	---	---	---
IGHV4-34	28395	broad.mit.edu	37	14	106829886	106829886	+	RNA	SNP	G	G	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr14:106829886G>T	ENST00000390616.2	-	0	107									immunoglobulin heavy variable 4-34																		CTGCACCTGGGACAGGACCCC	0.562																																						uc010tyt.1																			0					0								Parts of antibodies, mostly variable regions.							50.0	50.0	50.0					14																	106829886		1941	4129	6070			8755							g.chr14:106829886G>T	X92278		14q32.33	2012-02-08			ENSG00000211956	ENSG00000211956		"""Immunoglobulins / IGH locus"""	5650	other	immunoglobulin gene							Standard	NG_001019		Approved				OTTHUMG00000152074		14.37:g.106829886G>T						uc001ysx.1_RNA								323		-									RNA	SNP	ENST00000390616.2	37	c.12619C>A																																																																																					PASS	0.562	IGHV4-34-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IG_V_gene	OTTHUMT00000325168.1	NG_001019		14	46	14	46	---	---	---	---
IGHV1-46	28465	broad.mit.edu	37	14	106967359	106967359	+	RNA	SNP	G	G	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr14:106967359G>T	ENST00000390622.2	-	0	350									immunoglobulin heavy variable 1-46																		AGCACCTGCGGAGAGGACACA	0.562																																						uc010tyt.1																			0					0								Parts of antibodies, mostly variable regions.							81.0	82.0	81.0					14																	106967359		1898	4126	6024			8755							g.chr14:106967359G>T	X92343		14q32.33	2012-02-08			ENSG00000211962	ENSG00000211962		"""Immunoglobulins / IGH locus"""	5554	other	immunoglobulin gene							Standard	NG_001019		Approved				OTTHUMG00000151963		14.37:g.106967359G>T														201		-									RNA	SNP	ENST00000390622.2	37	c.9082C>A																																																																																					PASS	0.562	IGHV1-46-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IG_V_gene	OTTHUMT00000324609.1	NG_001019		34	109	34	109	---	---	---	---
TUBGCP5	114791	broad.mit.edu	37	15	22867508	22867508	+	Nonsense_Mutation	SNP	G	G	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr15:22867508G>T	ENST00000283645.4	+	19	2714	c.2584G>T	c.(2584-2586)Gaa>Taa	p.E862*	TUBGCP5_ENST00000453949.2_Nonsense_Mutation_p.E862*	NM_052903.4	NP_443135.3	Q96RT8	GCP5_HUMAN	tubulin, gamma complex associated protein 5	862					G2/M transition of mitotic cell cycle (GO:0000086)|microtubule nucleation (GO:0007020)|mitotic cell cycle (GO:0000278)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|gamma-tubulin ring complex (GO:0008274)|microtubule (GO:0005874)|nucleus (GO:0005634)|spindle pole (GO:0000922)	microtubule binding (GO:0008017)	p.E862*(1)		breast(5)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(23)|prostate(1)|skin(2)|urinary_tract(1)	46		all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488)		all cancers(64;2.86e-06)|Epithelial(43;2.63e-05)|BRCA - Breast invasive adenocarcinoma(123;0.000949)		CCTTATACATGAACAAGACAC	0.408																																						uc001yur.3																			1	Substitution - Nonsense(1)		lung(1)	skin(1)	1						c.(2584-2586)GAA>TAA		tubulin, gamma complex associated protein 5							172.0	146.0	155.0					15																	22867508		2203	4300	6503	SO:0001587	stop_gained	114791				G2/M transition of mitotic cell cycle|microtubule nucleation	centrosome|cytosol|gamma-tubulin ring complex|microtubule|spindle pole	microtubule binding	g.chr15:22867508G>T	AB067486	CCDS73697.1, CCDS73698.1	15q11.1	2014-04-17			ENSG00000153575	ENSG00000275835			18600	protein-coding gene	gene with protein product	"""gamma-tubulin complex component GCP5"""	608147				11694571	Standard	NM_052903		Approved	GCP5, KIAA1899	uc001yur.4	Q96RT8	OTTHUMG00000188371	ENST00000283645.4:c.2584G>T	15.37:g.22867508G>T	ENSP00000283645:p.Glu862*					TUBGCP5_uc001yuq.2_Nonsense_Mutation_p.E862*	p.E862*	NM_052903	NP_443135	Q96RT8	GCP5_HUMAN		all cancers(64;2.86e-06)|Epithelial(43;2.63e-05)|BRCA - Breast invasive adenocarcinoma(123;0.000949)	19	2714	+		all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488)	862					E9PB12|Q6IQ52|Q96PY8	Nonsense_Mutation	SNP	ENST00000283645.4	37	c.2584G>T	CCDS10008.1	.	.	.	.	.	.	.	.	.	.	G	38	6.792517	0.97841	.	.	ENSG00000153575	ENST00000283645;ENST00000453949	.	.	.	5.14	4.23	0.50019	.	0.665977	0.15082	N	0.281606	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06365	T	0.9	-1.6894	13.7826	0.63091	0.0735:0.0:0.9265:0.0	.	.	.	.	X	862	.	ENSP00000283645:E862X	E	+	1	0	TUBGCP5	20418949	0.999000	0.42202	0.045000	0.18777	0.030000	0.12068	2.778000	0.47726	1.407000	0.46875	0.655000	0.94253	GAA		PASS	0.408	TUBGCP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250998.2	NM_052903		52	50	52	50	---	---	---	---
MAGEL2	54551	broad.mit.edu	37	15	23889233	23889233	+	Silent	SNP	C	C	G	rs140288382	byFrequency	TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr15:23889233C>G	ENST00000532292.1	-	1	1942	c.1848G>C	c.(1846-1848)gcG>gcC	p.A616A		NM_019066.4	NP_061939.3	Q9UJ55	MAGL2_HUMAN	MAGE-like 2	499					Arp2/3 complex-mediated actin nucleation (GO:0034314)|protein K63-linked ubiquitination (GO:0070534)|retrograde transport, endosome to Golgi (GO:0042147)	endosome (GO:0005768)	ubiquitin-protein transferase activity (GO:0004842)	p.A616A(1)		breast(1)|endometrium(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	7		all_cancers(20;1.78e-24)|all_epithelial(15;7.75e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000625)|Colorectal(260;0.14)		all cancers(64;1.84e-06)|Epithelial(43;1.2e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00177)		ACTCTGCGAGCGCTTCAAGGT	0.557																																						uc001ywj.3																			1	Substitution - coding silent(1)		lung(1)		0						c.(1846-1848)GCG>GCC		MAGE-like protein 2							60.0	63.0	62.0					15																	23889233		2040	4195	6235	SO:0001819	synonymous_variant	54551							g.chr15:23889233C>G	AJ243531	CCDS73700.1	15q11-q12	2008-07-18				ENSG00000254585			6814	protein-coding gene	gene with protein product		605283		NDNL1		10556298	Standard	NM_019066		Approved	nM15	uc001ywj.4	Q9UJ55		ENST00000532292.1:c.1848G>C	15.37:g.23889233C>G							p.A616A	NM_019066	NP_061939				all cancers(64;1.84e-06)|Epithelial(43;1.2e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00177)	1	1943	-		all_cancers(20;1.78e-24)|all_epithelial(15;7.75e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000625)|Colorectal(260;0.14)							Silent	SNP	ENST00000532292.1	37	c.1848G>C		.	.	.	.	.	.	.	.	.	.	c	1.751	-0.489272	0.04352	.	.	ENSG00000254585	ENST00000532292	.	.	.	4.81	-9.62	0.00547	.	.	.	.	.	T	0.22898	0.0553	.	.	.	0.23689	N	0.997107	.	.	.	.	.	.	T	0.09773	-1.0659	4	.	.	.	.	5.8882	0.18894	0.0698:0.1274:0.349:0.4538	.	.	.	.	P	648	.	.	R	-	2	0	MAGEL2	21440326	0.000000	0.05858	0.000000	0.03702	0.590000	0.36582	-6.000000	0.00086	-4.619000	0.00039	-0.213000	0.12676	CGC		PASS	0.557	MAGEL2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000395182.2	NM_019066		12	82	12	82	---	---	---	---
GABRB3	2562	broad.mit.edu	37	15	26806217	26806217	+	Missense_Mutation	SNP	G	G	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr15:26806217G>T	ENST00000311550.5	-	8	1053	c.942C>A	c.(940-942)ttC>ttA	p.F314L	GABRB3_ENST00000299267.4_Missense_Mutation_p.F314L|GABRB3_ENST00000400188.3_Missense_Mutation_p.F243L|GABRB3_ENST00000545868.1_Missense_Mutation_p.F229L|GABRB3_ENST00000541819.2_Missense_Mutation_p.F370L	NM_000814.5|NM_001278631.1	NP_000805.1|NP_001265560.1	P28472	GBRB3_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta 3	314					cellular response to histamine (GO:0071420)|chloride transmembrane transport (GO:1902476)|cochlea development (GO:0090102)|inner ear receptor cell development (GO:0060119)|innervation (GO:0060384)|ion transmembrane transport (GO:0034220)|negative regulation of neuron apoptotic process (GO:0043524)|palate development (GO:0060021)|sensory perception of sound (GO:0007605)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|GABA-A receptor complex (GO:1902711)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)|GABA-gated chloride ion channel activity (GO:0022851)	p.F314L(2)|p.F370L(1)		NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|liver(1)|lung(41)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	68		all_cancers(20;1.89e-22)|all_lung(180;6.35e-15)|Breast(32;0.000279)|Colorectal(260;0.232)		all cancers(64;1.46e-07)|Epithelial(43;2.89e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0251)|COAD - Colon adenocarcinoma(236;0.235)|Lung(196;0.243)	Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Fospropofol(DB06716)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Ivermectin(DB00602)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Piperazine(DB00592)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	ACACAAAGACGAAGCAGCCCA	0.483																																						uc001zaz.2																			3	Substitution - Missense(3)		lung(3)	upper_aerodigestive_tract(1)|ovary(1)|lung(1)|liver(1)|central_nervous_system(1)	5						c.(940-942)TTC>TTA		gamma-aminobutyric acid (GABA) A receptor, beta	Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)						176.0	166.0	169.0					15																	26806217		2203	4300	6503	SO:0001583	missense	2562				synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity	g.chr15:26806217G>T		CCDS10018.1, CCDS10019.1, CCDS53920.1, CCDS53921.1	15q12	2012-06-22			ENSG00000166206	ENSG00000166206		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4083	protein-coding gene	gene with protein product	"""GABA(A) receptor, beta 3"""	137192					Standard	NM_000814		Approved		uc001zaz.3	P28472	OTTHUMG00000129231	ENST00000311550.5:c.942C>A	15.37:g.26806217G>T	ENSP00000308725:p.Phe314Leu					GABRB3_uc010uae.1_Missense_Mutation_p.F229L|GABRB3_uc001zba.2_Missense_Mutation_p.F314L|GABRB3_uc001zbb.2_Missense_Mutation_p.F370L	p.F314L	NM_000814	NP_000805	P28472	GBRB3_HUMAN		all cancers(64;1.46e-07)|Epithelial(43;2.89e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0251)|COAD - Colon adenocarcinoma(236;0.235)|Lung(196;0.243)	8	1084	-		all_cancers(20;1.89e-22)|all_lung(180;6.35e-15)|Breast(32;0.000279)|Colorectal(260;0.232)	314			Helical; (Probable).		B7Z2W1|B7Z825|F5H3D2|H7BYV8|Q14352|Q96FM5	Missense_Mutation	SNP	ENST00000311550.5	37	c.942C>A	CCDS10019.1	.	.	.	.	.	.	.	.	.	.	G	23.8	4.464060	0.84425	.	.	ENSG00000166206	ENST00000311550;ENST00000541819;ENST00000299267;ENST00000400188;ENST00000545868	D;D;D;D;D	0.83591	-1.74;-1.74;-1.74;-1.74;-1.74	5.0	-7.33	0.01431	Neurotransmitter-gated ion-channel transmembrane domain (2);	0.046169	0.85682	D	0.000000	D	0.84497	0.5485	L	0.55213	1.73	0.80722	D	1	D;D;D	0.76494	0.999;0.996;0.997	D;D;D	0.71414	0.954;0.954;0.973	D	0.85786	0.1364	10	0.32370	T	0.25	.	14.9985	0.71451	0.861:0.0:0.139:0.0	.	370;314;314	F5H7N0;P28472-2;P28472	.;.;GBRB3_HUMAN	L	314;370;314;243;229	ENSP00000308725:F314L;ENSP00000442408:F370L;ENSP00000299267:F314L;ENSP00000383049:F243L;ENSP00000439169:F229L	ENSP00000299267:F314L	F	-	3	2	GABRB3	24357310	0.999000	0.42202	0.850000	0.33497	0.960000	0.62799	0.660000	0.25009	-1.611000	0.01581	-0.793000	0.03317	TTC		PASS	0.483	GABRB3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251352.2			56	80	56	80	---	---	---	---
GABRG3	2567	broad.mit.edu	37	15	27271968	27271968	+	Splice_Site	SNP	G	G	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr15:27271968G>T	ENST00000333743.6	+	3	524	c.270G>T	c.(268-270)atG>atT	p.M90I	GABRG3_ENST00000555083.1_Splice_Site_p.M90I	NM_033223.4	NP_150092.2	Q99928	GBRG3_HUMAN	gamma-aminobutyric acid (GABA) A receptor, gamma 3	90					gamma-aminobutyric acid signaling pathway (GO:0007214)|ion transmembrane transport (GO:0034220)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|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)	p.M90I(1)		breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(23)|skin(1)|upper_aerodigestive_tract(4)	42		all_lung(180;4.58e-12)|Breast(32;0.000625)|Colorectal(260;0.235)		all cancers(64;3.15e-07)|Epithelial(43;1.17e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0261)	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)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|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)	CAATAAACATGGTAAGAAGCT	0.358																																					NSCLC(114;800 1656 7410 37729 45293)	uc001zbg.1																			1	Substitution - Missense(1)		lung(1)		0						c.(268-270)ATG>ATT		gamma-aminobutyric acid (GABA) A receptor, gamma							108.0	100.0	103.0					15																	27271968		1907	4127	6034	SO:0001630	splice_region_variant	2567				gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity	g.chr15:27271968G>T		CCDS45195.1, CCDS59251.1	15q12	2012-06-22			ENSG00000182256	ENSG00000182256		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4088	protein-coding gene	gene with protein product	"""GABA(G) receptor, gamma 3"""	600233				7601451	Standard	NM_033223		Approved		uc001zbg.2	Q99928	OTTHUMG00000044462	ENST00000333743.6:c.270+1G>T	15.37:g.27271968G>T						GABRG3_uc001zbf.2_Missense_Mutation_p.M90I	p.M90I	NM_033223	NP_150092	Q99928	GBRG3_HUMAN		all cancers(64;3.15e-07)|Epithelial(43;1.17e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0261)	3	436	+		all_lung(180;4.58e-12)|Breast(32;0.000625)|Colorectal(260;0.235)	90			Extracellular (Probable).		G3V594|Q9HD46|Q9NYT2	Missense_Mutation	SNP	ENST00000333743.6	37	c.270G>T	CCDS45195.1	.	.	.	.	.	.	.	.	.	.	G	18.14	3.558587	0.65538	.	.	ENSG00000182256	ENST00000333743;ENST00000555083	T;T	0.79141	-1.24;-1.24	5.96	5.96	0.96718	Neurotransmitter-gated ion-channel ligand-binding (3);	0.149569	0.64402	D	0.000019	D	0.88676	0.6501	H	0.95850	3.73	0.58432	D	0.999999	B;B	0.24132	0.098;0.032	B;B	0.39935	0.314;0.049	D	0.88183	0.2872	10	0.87932	D	0	.	15.9083	0.79447	0.0:0.0:1.0:0.0	.	90;90	Q99928;G3V594	GBRG3_HUMAN;.	I	90	ENSP00000331912:M90I;ENSP00000452244:M90I	ENSP00000331912:M90I	M	+	3	0	GABRG3	24854714	1.000000	0.71417	1.000000	0.80357	0.933000	0.57130	7.057000	0.76669	2.814000	0.96858	0.655000	0.94253	ATG		PASS	0.358	GABRG3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000103584.2		Missense_Mutation	6	41	6	41	---	---	---	---
OCA2	4948	broad.mit.edu	37	15	28234752	28234752	+	Missense_Mutation	SNP	C	C	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr15:28234752C>A	ENST00000354638.3	-	11	1332	c.1177G>T	c.(1177-1179)Ggc>Tgc	p.G393C	OCA2_ENST00000353809.5_Missense_Mutation_p.G369C|OCA2_ENST00000382996.2_Missense_Mutation_p.G393C	NM_000275.2	NP_000266.2	Q04671	P_HUMAN	oculocutaneous albinism II	393					cell proliferation (GO:0008283)|eye pigment biosynthetic process (GO:0006726)|melanin biosynthetic process (GO:0042438)|melanocyte differentiation (GO:0030318)|spermatid development (GO:0007286)|tyrosine transport (GO:0015828)	cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|melanosome membrane (GO:0033162)	L-tyrosine transmembrane transporter activity (GO:0005302)|transporter activity (GO:0005215)	p.G393C(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|lung(48)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	85		all_lung(180;2.93e-12)|Breast(32;0.000315)|Colorectal(260;0.234)		all cancers(64;5.03e-07)|Epithelial(43;2.13e-06)|BRCA - Breast invasive adenocarcinoma(123;0.045)		ATTACCATGCCAAACAGCAGG	0.552									Oculocutaneous Albinism																													uc001zbh.3																			1	Substitution - Missense(1)		lung(1)	ovary(3)|breast(1)|pancreas(1)	5						c.(1177-1179)GGC>TGC		oculocutaneous albinism II							116.0	98.0	104.0					15																	28234752		2203	4300	6503	SO:0001583	missense	4948	Oculocutaneous_Albinism	Familial Cancer Database		eye pigment biosynthetic process	endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosomal membrane|melanosome membrane	arsenite transmembrane transporter activity|citrate transmembrane transporter activity|L-tyrosine transmembrane transporter activity|protein binding	g.chr15:28234752C>A		CCDS10020.1, CCDS73701.1	15q12	2013-01-08	2008-01-30		ENSG00000104044	ENSG00000104044			8101	protein-coding gene	gene with protein product	"""melanocyte-specific transporter protein"""	611409	"""oculocutaneous albinism II (pink-eye dilution (murine) homolog)"", ""eye color 3 (brown)"", ""eye color 2 (central brown)"", ""oculocutaneous albinism II (pink-eye dilution homolog, mouse)"""	D15S12, P, EYCL3, EYCL2			Standard	NM_000275		Approved	BEY2, EYCL, BEY, BEY1	uc001zbh.4	Q04671	OTTHUMG00000128871	ENST00000354638.3:c.1177G>T	15.37:g.28234752C>A	ENSP00000346659:p.Gly393Cys					OCA2_uc010ayv.2_Missense_Mutation_p.G369C	p.G393C	NM_000275	NP_000266	Q04671	P_HUMAN		all cancers(64;5.03e-07)|Epithelial(43;2.13e-06)|BRCA - Breast invasive adenocarcinoma(123;0.045)	11	1287	-		all_lung(180;2.93e-12)|Breast(32;0.000315)|Colorectal(260;0.234)	393			Helical; (Potential).		Q15211|Q15212|Q96EN1|Q9UMI5	Missense_Mutation	SNP	ENST00000354638.3	37	c.1177G>T	CCDS10020.1	.	.	.	.	.	.	.	.	.	.	C	22.4	4.279203	0.80692	.	.	ENSG00000104044	ENST00000354638;ENST00000353809;ENST00000382996	D;D;D	0.94280	-3.39;-3.39;-3.39	4.99	4.99	0.66335	Divalent ion symporter (1);	0.000000	0.85682	D	0.000000	D	0.96803	0.8956	M	0.83223	2.63	0.80722	D	1	D;D	0.89917	0.998;1.0	D;D	0.97110	0.99;1.0	D	0.96931	0.9681	10	0.56958	D	0.05	-22.1366	17.4589	0.87615	0.0:1.0:0.0:0.0	.	369;393	Q04671-2;Q04671	.;P_HUMAN	C	393;369;393	ENSP00000346659:G393C;ENSP00000261276:G369C;ENSP00000372457:G393C	ENSP00000261276:G369C	G	-	1	0	OCA2	25908347	1.000000	0.71417	0.999000	0.59377	0.949000	0.60115	6.877000	0.75562	2.578000	0.87016	0.655000	0.94253	GGC		PASS	0.552	OCA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250823.1	NM_000275		14	45	14	45	---	---	---	---
RYR3	6263	broad.mit.edu	37	15	33927967	33927968	+	Missense_Mutation	DNP	CC	CC	AA	rs201820155		TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr15:33927967_33927968CC>AA	ENST00000389232.4	+	26	3398_3399	c.3328_3329CC>AA	c.(3328-3330)CCt>AAt	p.P1110N	RYR3_ENST00000415757.3_Missense_Mutation_p.P1110N	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	1110	4 X approximate repeats.|B30.2/SPRY 2. {ECO:0000255|PROSITE- ProRule:PRU00548}.				calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cellular response to ATP (GO:0071318)|cellular response to caffeine (GO:0071313)|cellular response to calcium ion (GO:0071277)|cellular response to magnesium ion (GO:0071286)|ion transmembrane transport (GO:0034220)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|protein homotetramerization (GO:0051289)|striated muscle contraction (GO:0006941)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|junctional membrane complex (GO:0030314)|perinuclear region of cytoplasm (GO:0048471)|sarcoplasmic reticulum membrane (GO:0033017)	calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|ryanodine-sensitive calcium-release channel activity (GO:0005219)	p.P1110T(1)|p.P1110N(1)|p.P1110H(1)		NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		AGGCTGTCGACCTGATGTCGAG	0.51																																						uc001zhi.2																			3	Substitution - Missense(3)		lung(3)	ovary(5)|central_nervous_system(4)|lung(1)	10						c.(3328-3330)CCT>ACT|c.(3328-3330)CCT>CAT		ryanodine receptor 3																																				SO:0001583	missense	6263				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity	g.chr15:33927967C>A|g.chr15:33927968C>A		CCDS45210.1, CCDS58351.1	15q14-q15	2013-01-10				ENSG00000198838		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10485	protein-coding gene	gene with protein product		180903				8276408	Standard	NM_001036		Approved		uc001zhi.3	Q15413		Exception_encountered	15.37:g.33927967_33927968delinsAA	ENSP00000373884:p.Pro1110Asn					RYR3_uc010bar.2_Missense_Mutation_p.P1110T|RYR3_uc010bar.2_Missense_Mutation_p.P1110H	p.P1110T|p.P1110H	NM_001036	NP_001027	Q15413	RYR3_HUMAN		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)	26	3398|3399	+		all_lung(180;7.18e-09)	1110			B30.2/SPRY 2.|Cytoplasmic (By similarity).|4 X approximate repeats.		O15175|Q15412	Missense_Mutation	SNP	ENST00000389232.4	37	c.3328C>A|c.3329C>A	CCDS45210.1																																																																																				PASS	0.510	RYR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417514.1			9	23|24	9	23	---	---	---	---
RYR3	6263	broad.mit.edu	37	15	33928020	33928020	+	Splice_Site	SNP	G	G	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr15:33928020G>T	ENST00000389232.4	+	26	3451	c.3381G>T	c.(3379-3381)agG>agT	p.R1127S	RYR3_ENST00000415757.3_Splice_Site_p.R1127S	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	1127	4 X approximate repeats.|B30.2/SPRY 2. {ECO:0000255|PROSITE- ProRule:PRU00548}.				calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cellular response to ATP (GO:0071318)|cellular response to caffeine (GO:0071313)|cellular response to calcium ion (GO:0071277)|cellular response to magnesium ion (GO:0071286)|ion transmembrane transport (GO:0034220)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|protein homotetramerization (GO:0051289)|striated muscle contraction (GO:0006941)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|junctional membrane complex (GO:0030314)|perinuclear region of cytoplasm (GO:0048471)|sarcoplasmic reticulum membrane (GO:0033017)	calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|ryanodine-sensitive calcium-release channel activity (GO:0005219)	p.R1127S(1)		NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		AAGGCAACAGGGTGAGTTTAT	0.502																																						uc001zhi.2																			1	Substitution - Missense(1)		lung(1)	ovary(5)|central_nervous_system(4)|lung(1)	10						c.(3379-3381)AGG>AGT		ryanodine receptor 3							34.0	36.0	35.0					15																	33928020		1922	4124	6046	SO:0001630	splice_region_variant	6263				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity	g.chr15:33928020G>T		CCDS45210.1, CCDS58351.1	15q14-q15	2013-01-10				ENSG00000198838		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10485	protein-coding gene	gene with protein product		180903				8276408	Standard	NM_001036		Approved		uc001zhi.3	Q15413		ENST00000389232.4:c.3381+1G>T	15.37:g.33928020G>T						RYR3_uc010bar.2_Missense_Mutation_p.R1127S	p.R1127S	NM_001036	NP_001027	Q15413	RYR3_HUMAN		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)	26	3451	+		all_lung(180;7.18e-09)	1127			B30.2/SPRY 2.|Cytoplasmic (By similarity).|4 X approximate repeats.		O15175|Q15412	Missense_Mutation	SNP	ENST00000389232.4	37	c.3381G>T	CCDS45210.1	.	.	.	.	.	.	.	.	.	.	G	16.49	3.138697	0.56936	.	.	ENSG00000198838	ENST00000389232;ENST00000415757;ENST00000361728	T;T	0.74315	-0.83;-0.83	5.32	5.32	0.75619	Concanavalin A-like lectin/glucanase (1);SPla/RYanodine receptor subgroup (1);B30.2/SPRY domain (1);SPla/RYanodine receptor SPRY (1);	0.107611	0.64402	D	0.000006	T	0.71953	0.3401	M	0.75085	2.285	0.58432	D	0.999994	B;B	0.26845	0.161;0.101	B;B	0.28385	0.073;0.089	T	0.68070	-0.5506	10	0.33141	T	0.24	.	10.01	0.41981	0.1187:0.0:0.8813:0.0	.	1127;1127	Q15413-2;Q15413	.;RYR3_HUMAN	S	1127	ENSP00000373884:R1127S;ENSP00000399610:R1127S	ENSP00000354735:R1127S	R	+	3	2	RYR3	31715312	1.000000	0.71417	1.000000	0.80357	0.922000	0.55478	4.332000	0.59279	2.760000	0.94817	0.655000	0.94253	AGG		PASS	0.502	RYR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417514.1		Missense_Mutation	4	11	4	11	---	---	---	---
RYR3	6263	broad.mit.edu	37	15	33952004	33952004	+	Silent	SNP	G	G	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr15:33952004G>A	ENST00000389232.4	+	33	4462	c.4392G>A	c.(4390-4392)ctG>ctA	p.L1464L	RYR3_ENST00000415757.3_Silent_p.L1464L	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	1464	4 X approximate repeats.|B30.2/SPRY 3. {ECO:0000255|PROSITE- ProRule:PRU00548}.				calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cellular response to ATP (GO:0071318)|cellular response to caffeine (GO:0071313)|cellular response to calcium ion (GO:0071277)|cellular response to magnesium ion (GO:0071286)|ion transmembrane transport (GO:0034220)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|protein homotetramerization (GO:0051289)|striated muscle contraction (GO:0006941)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|junctional membrane complex (GO:0030314)|perinuclear region of cytoplasm (GO:0048471)|sarcoplasmic reticulum membrane (GO:0033017)	calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|ryanodine-sensitive calcium-release channel activity (GO:0005219)	p.L1464L(1)		NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		TTGGAAAGCTGAAGGTATTTA	0.438																																						uc001zhi.2																			1	Substitution - coding silent(1)		lung(1)	ovary(5)|central_nervous_system(4)|lung(1)	10						c.(4390-4392)CTG>CTA		ryanodine receptor 3							88.0	82.0	84.0					15																	33952004		1864	4112	5976	SO:0001819	synonymous_variant	6263				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity	g.chr15:33952004G>A		CCDS45210.1, CCDS58351.1	15q14-q15	2013-01-10				ENSG00000198838		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10485	protein-coding gene	gene with protein product		180903				8276408	Standard	NM_001036		Approved		uc001zhi.3	Q15413		ENST00000389232.4:c.4392G>A	15.37:g.33952004G>A						RYR3_uc010bar.2_Silent_p.L1464L	p.L1464L	NM_001036	NP_001027	Q15413	RYR3_HUMAN		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)	33	4462	+		all_lung(180;7.18e-09)	1464			4 X approximate repeats.|B30.2/SPRY 3.|Cytoplasmic (By similarity).		O15175|Q15412	Silent	SNP	ENST00000389232.4	37	c.4392G>A	CCDS45210.1																																																																																				PASS	0.438	RYR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417514.1			12	28	12	28	---	---	---	---
RYR3	6263	broad.mit.edu	37	15	33952493	33952493	+	Silent	SNP	C	C	G			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr15:33952493C>G	ENST00000389232.4	+	34	4561	c.4491C>G	c.(4489-4491)ccC>ccG	p.P1497P	RYR3_ENST00000415757.3_Silent_p.P1497P	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	1497	4 X approximate repeats.				calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cellular response to ATP (GO:0071318)|cellular response to caffeine (GO:0071313)|cellular response to calcium ion (GO:0071277)|cellular response to magnesium ion (GO:0071286)|ion transmembrane transport (GO:0034220)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|protein homotetramerization (GO:0051289)|striated muscle contraction (GO:0006941)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|junctional membrane complex (GO:0030314)|perinuclear region of cytoplasm (GO:0048471)|sarcoplasmic reticulum membrane (GO:0033017)	calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|ryanodine-sensitive calcium-release channel activity (GO:0005219)	p.P1497P(1)		NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		CCATCCAGCCCGTGCTCTGGA	0.632																																						uc001zhi.2																			1	Substitution - coding silent(1)		lung(1)	ovary(5)|central_nervous_system(4)|lung(1)	10						c.(4489-4491)CCC>CCG		ryanodine receptor 3							30.0	35.0	33.0					15																	33952493		2145	4259	6404	SO:0001819	synonymous_variant	6263				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity	g.chr15:33952493C>G		CCDS45210.1, CCDS58351.1	15q14-q15	2013-01-10				ENSG00000198838		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10485	protein-coding gene	gene with protein product		180903				8276408	Standard	NM_001036		Approved		uc001zhi.3	Q15413		ENST00000389232.4:c.4491C>G	15.37:g.33952493C>G						RYR3_uc010bar.2_Silent_p.P1497P	p.P1497P	NM_001036	NP_001027	Q15413	RYR3_HUMAN		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)	34	4561	+		all_lung(180;7.18e-09)	1497			4 X approximate repeats.|Cytoplasmic (By similarity).		O15175|Q15412	Silent	SNP	ENST00000389232.4	37	c.4491C>G	CCDS45210.1																																																																																				PASS	0.632	RYR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417514.1			3	2	3	2	---	---	---	---
RYR3	6263	broad.mit.edu	37	15	34023743	34023743	+	Silent	SNP	C	C	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr15:34023743C>A	ENST00000389232.4	+	48	7342	c.7272C>A	c.(7270-7272)ctC>ctA	p.L2424L	RYR3_ENST00000415757.3_Silent_p.L2424L	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	2424	4 X approximate repeats.				calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cellular response to ATP (GO:0071318)|cellular response to caffeine (GO:0071313)|cellular response to calcium ion (GO:0071277)|cellular response to magnesium ion (GO:0071286)|ion transmembrane transport (GO:0034220)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|protein homotetramerization (GO:0051289)|striated muscle contraction (GO:0006941)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|junctional membrane complex (GO:0030314)|perinuclear region of cytoplasm (GO:0048471)|sarcoplasmic reticulum membrane (GO:0033017)	calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|ryanodine-sensitive calcium-release channel activity (GO:0005219)	p.L2424L(1)		NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		TGCTCCCGCTCCTCACAAGAT	0.488																																						uc001zhi.2																			1	Substitution - coding silent(1)		lung(1)	ovary(5)|central_nervous_system(4)|lung(1)	10						c.(7270-7272)CTC>CTA		ryanodine receptor 3							79.0	73.0	75.0					15																	34023743		2007	4197	6204	SO:0001819	synonymous_variant	6263				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity	g.chr15:34023743C>A		CCDS45210.1, CCDS58351.1	15q14-q15	2013-01-10				ENSG00000198838		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10485	protein-coding gene	gene with protein product		180903				8276408	Standard	NM_001036		Approved		uc001zhi.3	Q15413		ENST00000389232.4:c.7272C>A	15.37:g.34023743C>A						RYR3_uc010bar.2_Silent_p.L2424L	p.L2424L	NM_001036	NP_001027	Q15413	RYR3_HUMAN		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)	48	7342	+		all_lung(180;7.18e-09)	2424			4 X approximate repeats.|Cytoplasmic (By similarity).		O15175|Q15412	Silent	SNP	ENST00000389232.4	37	c.7272C>A	CCDS45210.1																																																																																				PASS	0.488	RYR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417514.1			22	30	22	30	---	---	---	---
RYR3	6263	broad.mit.edu	37	15	34080547	34080547	+	Missense_Mutation	SNP	G	G	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr15:34080547G>T	ENST00000389232.4	+	67	9788	c.9718G>T	c.(9718-9720)Ggc>Tgc	p.G3240C	RYR3_ENST00000415757.3_Missense_Mutation_p.G3240C	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	3240					calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cellular response to ATP (GO:0071318)|cellular response to caffeine (GO:0071313)|cellular response to calcium ion (GO:0071277)|cellular response to magnesium ion (GO:0071286)|ion transmembrane transport (GO:0034220)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|protein homotetramerization (GO:0051289)|striated muscle contraction (GO:0006941)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|junctional membrane complex (GO:0030314)|perinuclear region of cytoplasm (GO:0048471)|sarcoplasmic reticulum membrane (GO:0033017)	calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|ryanodine-sensitive calcium-release channel activity (GO:0005219)	p.G3240C(1)		NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		GAAAGCCGATGGCAAAGGGGA	0.567																																						uc001zhi.2																			1	Substitution - Missense(1)		lung(1)	ovary(5)|central_nervous_system(4)|lung(1)	10						c.(9718-9720)GGC>TGC		ryanodine receptor 3							105.0	112.0	109.0					15																	34080547		2043	4194	6237	SO:0001583	missense	6263				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity	g.chr15:34080547G>T		CCDS45210.1, CCDS58351.1	15q14-q15	2013-01-10				ENSG00000198838		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10485	protein-coding gene	gene with protein product		180903				8276408	Standard	NM_001036		Approved		uc001zhi.3	Q15413		ENST00000389232.4:c.9718G>T	15.37:g.34080547G>T	ENSP00000373884:p.Gly3240Cys					RYR3_uc010bar.2_Missense_Mutation_p.G3240C	p.G3240C	NM_001036	NP_001027	Q15413	RYR3_HUMAN		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)	67	9788	+		all_lung(180;7.18e-09)	3240					O15175|Q15412	Missense_Mutation	SNP	ENST00000389232.4	37	c.9718G>T	CCDS45210.1	.	.	.	.	.	.	.	.	.	.	G	5.494	0.276169	0.10403	.	.	ENSG00000198838	ENST00000389232;ENST00000415757;ENST00000361728	T;T	0.66280	-0.2;-0.2	4.55	2.43	0.29744	.	0.155706	0.56097	D	0.000029	T	0.49236	0.1545	L	0.44542	1.39	0.32022	N	0.600639	B;B	0.13145	0.003;0.007	B;B	0.15484	0.003;0.013	T	0.53222	-0.8469	10	0.87932	D	0	.	5.9367	0.19169	0.6854:0.0:0.3146:0.0	.	3240;3240	Q15413-2;Q15413	.;RYR3_HUMAN	C	3240	ENSP00000373884:G3240C;ENSP00000399610:G3240C	ENSP00000354735:G3240C	G	+	1	0	RYR3	31867839	0.847000	0.29606	0.635000	0.29338	0.016000	0.09150	1.344000	0.33941	0.492000	0.27815	-0.140000	0.14226	GGC		PASS	0.567	RYR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417514.1			74	116	74	116	---	---	---	---
RYR3	6263	broad.mit.edu	37	15	34109111	34109111	+	Missense_Mutation	SNP	A	A	G			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr15:34109111A>G	ENST00000389232.4	+	75	10621	c.10551A>G	c.(10549-10551)atA>atG	p.I3517M	RYR3_ENST00000415757.3_Missense_Mutation_p.I3512M	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	3517					calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cellular response to ATP (GO:0071318)|cellular response to caffeine (GO:0071313)|cellular response to calcium ion (GO:0071277)|cellular response to magnesium ion (GO:0071286)|ion transmembrane transport (GO:0034220)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|protein homotetramerization (GO:0051289)|striated muscle contraction (GO:0006941)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|junctional membrane complex (GO:0030314)|perinuclear region of cytoplasm (GO:0048471)|sarcoplasmic reticulum membrane (GO:0033017)	calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|ryanodine-sensitive calcium-release channel activity (GO:0005219)	p.I3516M(1)		NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		GATTTTGGATAGAAACAGAGG	0.458																																						uc001zhi.2																			1	Substitution - Missense(1)		lung(1)	ovary(5)|central_nervous_system(4)|lung(1)	10						c.(10549-10551)ATA>ATG		ryanodine receptor 3							71.0	67.0	68.0					15																	34109111		1863	4106	5969	SO:0001583	missense	6263				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity	g.chr15:34109111A>G		CCDS45210.1, CCDS58351.1	15q14-q15	2013-01-10				ENSG00000198838		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10485	protein-coding gene	gene with protein product		180903				8276408	Standard	NM_001036		Approved		uc001zhi.3	Q15413		ENST00000389232.4:c.10551A>G	15.37:g.34109111A>G	ENSP00000373884:p.Ile3517Met					RYR3_uc010bar.2_Missense_Mutation_p.I3512M	p.I3517M	NM_001036	NP_001027	Q15413	RYR3_HUMAN		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)	75	10621	+		all_lung(180;7.18e-09)	3517					O15175|Q15412	Missense_Mutation	SNP	ENST00000389232.4	37	c.10551A>G	CCDS45210.1	.	.	.	.	.	.	.	.	.	.	A	16.32	3.088826	0.55968	.	.	ENSG00000198838	ENST00000389232;ENST00000415757;ENST00000361728	D	0.97016	-4.21	5.11	5.11	0.69529	.	0.000000	0.85682	D	0.000000	D	0.96595	0.8889	L	0.57536	1.79	0.51482	D	0.999926	P;D	0.52996	0.919;0.957	B;P	0.55222	0.406;0.771	D	0.96424	0.9314	10	0.48119	T	0.1	.	15.0736	0.72059	1.0:0.0:0.0:0.0	.	3512;3517	Q15413-2;Q15413	.;RYR3_HUMAN	M	3517;3516;3512	ENSP00000373884:I3517M	ENSP00000354735:I3512M	I	+	3	3	RYR3	31896403	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.788000	0.69020	2.142000	0.66516	0.533000	0.62120	ATA		PASS	0.458	RYR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417514.1			16	13	16	13	---	---	---	---
ACTC1	70	broad.mit.edu	37	15	35082705	35082705	+	Missense_Mutation	SNP	G	G	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr15:35082705G>T	ENST00000290378.4	-	7	1697	c.1042C>A	c.(1042-1044)Ctg>Atg	p.L348M	ACTC1_ENST00000557860.1_5'Flank|RP11-814P5.1_ENST00000558707.1_RNA|RP11-814P5.1_ENST00000503496.1_RNA	NM_005159.4	NP_005150.1	P68032	ACTC_HUMAN	actin, alpha, cardiac muscle 1	348					actin filament-based movement (GO:0030048)|actin-myosin filament sliding (GO:0033275)|actomyosin structure organization (GO:0031032)|apoptotic process (GO:0006915)|ATP catabolic process (GO:0006200)|cardiac muscle contraction (GO:0060048)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|heart contraction (GO:0060047)|muscle filament sliding (GO:0030049)|negative regulation of apoptotic process (GO:0043066)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|skeletal muscle thin filament assembly (GO:0030240)	actin filament (GO:0005884)|actomyosin, actin portion (GO:0042643)|blood microparticle (GO:0072562)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|I band (GO:0031674)|membrane (GO:0016020)|sarcomere (GO:0030017)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|myosin binding (GO:0017022)	p.L348M(1)		central_nervous_system(1)|endometrium(5)|kidney(1)|lung(14)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)	31		all_lung(180;2.3e-08)		all cancers(64;5.83e-19)|GBM - Glioblastoma multiforme(113;1.98e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0244)		AGAGAGGCCAGGATGGAGCCC	0.483																																						uc001ziu.1																			1	Substitution - Missense(1)		lung(1)	upper_aerodigestive_tract(1)|ovary(1)	2						c.(1042-1044)CTG>ATG		cardiac muscle alpha actin 1 proprotein							109.0	108.0	108.0					15																	35082705		2201	4298	6499	SO:0001583	missense	70				apoptosis|cardiac muscle tissue morphogenesis|cardiac myofibril assembly|muscle filament sliding|skeletal muscle thin filament assembly	actomyosin, actin part|cytosol|I band	ATP binding|ATPase activity|myosin binding	g.chr15:35082705G>T	BC009978	CCDS10041.1	15q14	2014-09-17	2006-08-24	2006-08-24	ENSG00000159251	ENSG00000159251			143	protein-coding gene	gene with protein product		102540	"""actin, alpha, cardiac muscle"""	ACTC		1639426	Standard	NM_005159		Approved	CMD1R	uc001ziu.1	P68032	OTTHUMG00000129675	ENST00000290378.4:c.1042C>A	15.37:g.35082705G>T	ENSP00000290378:p.Leu348Met					uc001zit.1_Intron	p.L348M	NM_005159	NP_005150	P68032	ACTC_HUMAN		all cancers(64;5.83e-19)|GBM - Glioblastoma multiforme(113;1.98e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0244)	7	1285	-		all_lung(180;2.3e-08)	348					P04270	Missense_Mutation	SNP	ENST00000290378.4	37	c.1042C>A	CCDS10041.1	.	.	.	.	.	.	.	.	.	.	G	13.01	2.108135	0.37242	.	.	ENSG00000159251	ENST00000290378;ENST00000544062	D	0.97598	-4.45	4.77	1.9	0.25705	.	0.000000	0.41938	U	0.000785	D	0.96269	0.8783	M	0.90542	3.125	0.40691	D	0.982393	P	0.39311	0.667	B	0.37731	0.257	D	0.94810	0.7978	10	0.87932	D	0	.	7.9542	0.30033	0.3898:0.0:0.6102:0.0	.	348	P68032	ACTC_HUMAN	M	348;313	ENSP00000290378:L348M	ENSP00000290378:L348M	L	-	1	2	ACTC1	32869997	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	3.365000	0.52335	0.731000	0.32448	-0.251000	0.11542	CTG		PASS	0.483	ACTC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251876.3	NM_005159		33	140	33	140	---	---	---	---
FAM98B	283742	broad.mit.edu	37	15	38765759	38765759	+	Silent	SNP	G	G	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr15:38765759G>T	ENST00000491535.1	+	5	593	c.585G>T	c.(583-585)ctG>ctT	p.L195L	FAM98B_ENST00000397609.2_Silent_p.L195L	NM_001042429.1	NP_001035894.1	Q52LJ0	FA98B_HUMAN	family with sequence similarity 98, member B	195						cytoplasm (GO:0005737)|nucleus (GO:0005634)|tRNA-splicing ligase complex (GO:0072669)	poly(A) RNA binding (GO:0044822)	p.L195L(2)		endometrium(2)|large_intestine(3)|lung(1)|ovary(1)|skin(1)	8		all_cancers(109;3.11e-17)|all_epithelial(112;2.64e-15)|Lung NSC(122;2.11e-11)|all_lung(180;5.61e-10)|Melanoma(134;0.0574)		GBM - Glioblastoma multiforme(113;9e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0209)		AACCACTGCTGAAAATGGATT	0.274																																						uc001zkb.1																			2	Substitution - coding silent(2)		lung(2)	ovary(1)	1						c.(583-585)CTG>CTT		family with sequence similarity 98, member B							43.0	45.0	45.0					15																	38765759		2200	4288	6488	SO:0001819	synonymous_variant	283742					tRNA-splicing ligase complex	protein binding	g.chr15:38765759G>T		CCDS10047.2	15q14	2006-11-29		2005-11-20	ENSG00000171262	ENSG00000171262			26773	protein-coding gene	gene with protein product						12477932	Standard	NM_173611		Approved	FLJ38426	uc001zkc.3	Q52LJ0	OTTHUMG00000129831	ENST00000491535.1:c.585G>T	15.37:g.38765759G>T						FAM98B_uc001zkc.2_Silent_p.L195L	p.L195L	NM_001042429	NP_001035894	Q52LJ0	FA98B_HUMAN		GBM - Glioblastoma multiforme(113;9e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0209)	5	620	+		all_cancers(109;3.11e-17)|all_epithelial(112;2.64e-15)|Lung NSC(122;2.11e-11)|all_lung(180;5.61e-10)|Melanoma(134;0.0574)	195					A8MUW5|Q8N935	Silent	SNP	ENST00000491535.1	37	c.585G>T	CCDS42015.1																																																																																				PASS	0.274	FAM98B-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000252071.2	NM_173611		35	52	35	52	---	---	---	---
BAHD1	22893	broad.mit.edu	37	15	40751488	40751488	+	Nonsense_Mutation	SNP	G	G	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr15:40751488G>A	ENST00000416165.1	+	2	896	c.825G>A	c.(823-825)tgG>tgA	p.W275*	BAHD1_ENST00000560846.1_Nonsense_Mutation_p.W275*|BAHD1_ENST00000561234.1_Nonsense_Mutation_p.W275*	NM_014952.3	NP_055767.3	Q8TBE0	BAHD1_HUMAN	bromo adjacent homology domain containing 1	275	Pro-rich.				heterochromatin assembly (GO:0031507)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	chromatin silencing complex (GO:0005677)|chromosome (GO:0005694)	chromatin binding (GO:0003682)	p.W275*(1)		NS(1)|endometrium(6)|kidney(3)|large_intestine(3)|lung(10)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	28		all_cancers(109;8.28e-19)|all_epithelial(112;2.64e-15)|Lung NSC(122;5.14e-11)|all_lung(180;1.27e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;3.46e-06)|BRCA - Breast invasive adenocarcinoma(123;0.08)		CACCTGGCTGGCAAGGCTGCC	0.632																																						uc001zlu.2																			1	Substitution - Nonsense(1)		lung(1)		0						c.(823-825)TGG>TGA		bromo adjacent homology domain containing 1							36.0	38.0	37.0					15																	40751488		2200	4297	6497	SO:0001587	stop_gained	22893				heterochromatin formation|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromatin silencing complex|chromosome	chromatin binding|DNA binding|protein binding	g.chr15:40751488G>A	AL833923	CCDS10058.1, CCDS73705.1	15q14	2005-11-10			ENSG00000140320	ENSG00000140320			29153	protein-coding gene	gene with protein product		613880				10231032	Standard	XM_005254229		Approved	KIAA0945	uc001zlu.2	Q8TBE0	OTTHUMG00000129982	ENST00000416165.1:c.825G>A	15.37:g.40751488G>A	ENSP00000396976:p.Trp275*					BAHD1_uc001zlt.2_Nonsense_Mutation_p.W275*|BAHD1_uc010bbp.1_Nonsense_Mutation_p.W275*|BAHD1_uc001zlv.2_Nonsense_Mutation_p.W275*	p.W275*	NM_014952	NP_055767	Q8TBE0	BAHD1_HUMAN		GBM - Glioblastoma multiforme(113;3.46e-06)|BRCA - Breast invasive adenocarcinoma(123;0.08)	2	896	+		all_cancers(109;8.28e-19)|all_epithelial(112;2.64e-15)|Lung NSC(122;5.14e-11)|all_lung(180;1.27e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)	275			Pro-rich.		Q8NDF7|Q9Y2F4	Nonsense_Mutation	SNP	ENST00000416165.1	37	c.825G>A	CCDS10058.1	.	.	.	.	.	.	.	.	.	.	G	27.7	4.858106	0.91433	.	.	ENSG00000140320	ENST00000416165	.	.	.	5.3	4.39	0.52855	.	0.141869	0.50627	D	0.000112	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-5.8973	13.9341	0.64015	0.0729:0.0:0.9271:0.0	.	.	.	.	X	275	.	ENSP00000396976:W275X	W	+	3	0	BAHD1	38538780	1.000000	0.71417	0.983000	0.44433	0.994000	0.84299	4.860000	0.62961	1.452000	0.47756	0.655000	0.94253	TGG		PASS	0.632	BAHD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252248.1	NM_014952		8	72	8	72	---	---	---	---
PPIP5K1	9677	broad.mit.edu	37	15	43831688	43831688	+	Missense_Mutation	SNP	C	C	G			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr15:43831688C>G	ENST00000396923.3	-	29	3600	c.3479G>C	c.(3478-3480)cGc>cCc	p.R1160P	PPIP5K1_ENST00000420765.1_Missense_Mutation_p.R1160P|PPIP5K1_ENST00000381879.4_Missense_Mutation_p.R1136P|PPIP5K1_ENST00000360135.4_Missense_Mutation_p.R1093P|PPIP5K1_ENST00000334933.4_Missense_Mutation_p.R1135P|PPIP5K1_ENST00000360301.4_Missense_Mutation_p.R1135P|PPIP5K1_ENST00000348806.6_Missense_Mutation_p.R1093P|PPIP5K1_ENST00000381885.1_Missense_Mutation_p.R1156P			Q6PFW1	VIP1_HUMAN	diphosphoinositol pentakisphosphate kinase 1	1160					inositol metabolic process (GO:0006020)|inositol phosphate metabolic process (GO:0043647)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	acid phosphatase activity (GO:0003993)|ATP binding (GO:0005524)|diphosphoinositol-pentakisphosphate kinase activity (GO:0033857)|inositol hexakisphosphate 1-kinase activity (GO:0052723)|inositol hexakisphosphate 3-kinase activity (GO:0052724)|inositol hexakisphosphate 5-kinase activity (GO:0000832)|inositol-1,3,4,5,6-pentakisphosphate kinase activity (GO:0000827)	p.R1160P(1)		large_intestine(1)	1						CTTCTCAGAGCGCTGCTGGAG	0.507																																						uc001zrw.2																			1	Substitution - Missense(1)		lung(1)		0						c.(3478-3480)CGC>CCC		histidine acid phosphatase domain containing 2A							78.0	76.0	77.0					15																	43831688		2201	4298	6499	SO:0001583	missense	9677				inositol metabolic process	cytosol	acid phosphatase activity|ATP binding|diphosphoinositol-pentakisphosphate kinase activity|inositol 1,3,4,5,6-pentakisphosphate kinase activity|inositol hexakisphosphate 5-kinase activity	g.chr15:43831688C>G	AF502586	CCDS32215.1, CCDS45252.1, CCDS53937.1	15q15.3	2010-01-27	2010-01-26	2010-01-26	ENSG00000168781	ENSG00000168781	2.7.4.24		29023	protein-coding gene	gene with protein product		610979	"""histidine acid phosphatase domain containing 2A"""	HISPPD2A		17412958, 17690096, 18981179	Standard	NM_001190214		Approved	KIAA0377, IPS1, VIP1	uc001zrw.3	Q6PFW1	OTTHUMG00000059758	ENST00000396923.3:c.3479G>C	15.37:g.43831688C>G	ENSP00000380129:p.Arg1160Pro					PPIP5K1_uc001zrx.1_Missense_Mutation_p.R1093P|PPIP5K1_uc001zru.2_Missense_Mutation_p.R1135P|PPIP5K1_uc001zry.3_Missense_Mutation_p.R1135P|PPIP5K1_uc001zrv.2_Intron	p.R1160P	NM_001130858	NP_001124330	Q6PFW1	VIP1_HUMAN			30	3662	-			1160					O15082|Q5HYF8|Q7Z3A7|Q86TE7|Q86UV3|Q86UV4|Q86XW8|Q8IZN0	Missense_Mutation	SNP	ENST00000396923.3	37	c.3479G>C	CCDS45252.1	.	.	.	.	.	.	.	.	.	.	C	16.42	3.118608	0.56505	.	.	ENSG00000168781	ENST00000381885;ENST00000360301;ENST00000360135;ENST00000334933;ENST00000396923;ENST00000304953;ENST00000381878;ENST00000420765;ENST00000381879;ENST00000348806	T;T;T;T;T;T;T;T	0.24908	1.86;1.83;2.28;1.83;1.86;1.86;1.85;2.28	5.04	5.04	0.67666	.	0.000000	0.85682	D	0.000000	T	0.31796	0.0808	L	0.55481	1.735	0.38019	D	0.934777	B;B;P	0.37141	0.0;0.303;0.584	B;B;B	0.42916	0.005;0.227;0.402	T	0.11012	-1.0605	10	0.30078	T	0.28	-11.7042	15.6884	0.77430	0.0:1.0:0.0:0.0	.	1093;1160;1135	Q6PFW1-7;Q6PFW1;Q6PFW1-3	.;VIP1_HUMAN;.	P	1156;1135;1093;1135;1160;1160;1135;1160;1136;1093	ENSP00000371309:R1156P;ENSP00000353446:R1135P;ENSP00000353253:R1093P;ENSP00000334779:R1135P;ENSP00000380129:R1160P;ENSP00000400887:R1160P;ENSP00000371303:R1136P;ENSP00000308773:R1093P	ENSP00000304750:R1160P	R	-	2	0	PPIP5K1	41618980	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.357000	0.66058	2.628000	0.89032	0.557000	0.71058	CGC		PASS	0.507	PPIP5K1-002	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000132907.1	NM_014659		3	11	3	11	---	---	---	---
SPG11	80208	broad.mit.edu	37	15	44890865	44890865	+	Nonsense_Mutation	SNP	C	C	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr15:44890865C>A	ENST00000261866.7	-	22	3872	c.3856G>T	c.(3856-3858)Gaa>Taa	p.E1286*	SPG11_ENST00000558319.1_Nonsense_Mutation_p.E1286*|SPG11_ENST00000427534.2_Nonsense_Mutation_p.E1286*|SPG11_ENST00000535302.2_Nonsense_Mutation_p.E1286*	NM_025137.3	NP_079413.3	Q96JI7	SPTCS_HUMAN	spastic paraplegia 11 (autosomal recessive)	1286					cell death (GO:0008219)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)		p.E1286*(1)		autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	72		all_cancers(109;1.29e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;1.34e-07)|all_lung(180;1.21e-06)|Melanoma(134;0.0122)		all cancers(107;2.93e-22)|GBM - Glioblastoma multiforme(94;1.55e-06)|COAD - Colon adenocarcinoma(120;0.0432)|Colorectal(105;0.0484)|Lung(196;0.104)|LUSC - Lung squamous cell carcinoma(244;0.214)		TGAGCATCTTCATTTCTGCAC	0.418																																						uc001ztx.2																			1	Substitution - Nonsense(1)		lung(1)	ovary(4)|skin(1)	5						c.(3856-3858)GAA>TAA		spatacsin isoform 1							153.0	143.0	147.0					15																	44890865		2198	4298	6496	SO:0001587	stop_gained	80208				cell death	cytosol|integral to membrane|nucleus	protein binding	g.chr15:44890865C>A		CCDS10112.1, CCDS53939.1	15q13-q15	2007-11-13			ENSG00000104133	ENSG00000104133			11226	protein-coding gene	gene with protein product	"""spatacsin"""	610844	"""KIAA1840"""	KIAA1840		10408536, 17322883	Standard	NM_001160227		Approved	FLJ21439	uc001ztx.3	Q96JI7	OTTHUMG00000131199	ENST00000261866.7:c.3856G>T	15.37:g.44890865C>A	ENSP00000261866:p.Glu1286*					SPG11_uc010ueh.1_Nonsense_Mutation_p.E1286*|SPG11_uc010uei.1_Nonsense_Mutation_p.E1286*|SPG11_uc001zty.1_Nonsense_Mutation_p.E15*	p.E1286*	NM_025137	NP_079413	Q96JI7	SPTCS_HUMAN		all cancers(107;2.93e-22)|GBM - Glioblastoma multiforme(94;1.55e-06)|COAD - Colon adenocarcinoma(120;0.0432)|Colorectal(105;0.0484)|Lung(196;0.104)|LUSC - Lung squamous cell carcinoma(244;0.214)	22	3887	-		all_cancers(109;1.29e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;1.34e-07)|all_lung(180;1.21e-06)|Melanoma(134;0.0122)	1286			Cytoplasmic (Potential).		A8KAX9|B9EK60|F5H3N6|Q4VC11|Q58G86|Q69YG6|Q6NW01|Q8N270|Q8TBU9|Q9H734	Nonsense_Mutation	SNP	ENST00000261866.7	37	c.3856G>T	CCDS10112.1	.	.	.	.	.	.	.	.	.	.	C	43	10.482603	0.99413	.	.	ENSG00000104133	ENST00000261866;ENST00000535302;ENST00000427534	.	.	.	6.03	6.03	0.97812	.	0.234402	0.45126	D	0.000398	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.29301	T	0.29	.	18.3397	0.90300	0.0:1.0:0.0:0.0	.	.	.	.	X	1286	.	ENSP00000261866:E1286X	E	-	1	0	SPG11	42678157	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	2.931000	0.48932	2.854000	0.98071	0.655000	0.94253	GAA		PASS	0.418	SPG11-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000253927.1			58	87	58	87	---	---	---	---
DUOX2	50506	broad.mit.edu	37	15	45398789	45398789	+	Nonsense_Mutation	SNP	T	T	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr15:45398789T>A	ENST00000603300.1	-	16	2084	c.1882A>T	c.(1882-1884)Aag>Tag	p.K628*	DUOX2_ENST00000389039.6_Nonsense_Mutation_p.K628*	NM_014080.4	NP_054799.4	Q9NRD8	DUOX2_HUMAN	dual oxidase 2	628					adenohypophysis morphogenesis (GO:0048855)|bone mineralization (GO:0030282)|cuticle development (GO:0042335)|cytokine-mediated signaling pathway (GO:0019221)|fertilization (GO:0009566)|hormone biosynthetic process (GO:0042446)|hydrogen peroxide catabolic process (GO:0042744)|inner ear development (GO:0048839)|multicellular organism growth (GO:0035264)|oxidation-reduction process (GO:0055114)|response to cAMP (GO:0051591)|response to virus (GO:0009615)|thyroid gland development (GO:0030878)|thyroid hormone generation (GO:0006590)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|heme binding (GO:0020037)|NAD(P)H oxidase activity (GO:0016174)|peroxidase activity (GO:0004601)	p.K628*(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1)	63		all_cancers(109;3.79e-11)|all_epithelial(112;2.92e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;1.05e-18)|GBM - Glioblastoma multiforme(94;4.23e-07)|COAD - Colon adenocarcinoma(120;0.0668)|Colorectal(133;0.068)		TGTAGCTTCTTGTGTTCTCGG	0.562																																						uc010bea.2																			1	Substitution - Nonsense(1)		lung(1)	ovary(2)|skin(2)|pancreas(1)	5						c.(1882-1884)AAG>TAG		dual oxidase 2 precursor							176.0	169.0	171.0					15																	45398789		2198	4298	6496	SO:0001587	stop_gained	50506				cuticle development|cytokine-mediated signaling pathway|hormone biosynthetic process|hydrogen peroxide catabolic process|response to cAMP|response to virus	apical plasma membrane|integral to membrane	calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|peroxidase activity	g.chr15:45398789T>A	AF181972	CCDS10117.1	15q15.3-q21	2013-01-10			ENSG00000140279	ENSG00000140279		"""EF-hand domain containing"""	13273	protein-coding gene	gene with protein product	"""dual oxidase-like domains 2"", ""nicotinamide adenine dinucleotide phosphate oxidase"", ""flavoprotein NADPH oxidase"", ""NADPH thyroid oxidase 2"", ""NADH/NADPH thyroid oxidase p138-tox"", ""NADPH oxidase/peroxidase DUOX2"""	606759				10601291, 10806195	Standard	NM_014080		Approved	P138-TOX, P138(TOX), THOX2, LNOX2	uc010bea.3	Q9NRD8	OTTHUMG00000131355	ENST00000603300.1:c.1882A>T	15.37:g.45398789T>A	ENSP00000475084:p.Lys628*					DUOX2_uc001zun.2_Nonsense_Mutation_p.K628*	p.K628*	NM_014080	NP_054799	Q9NRD8	DUOX2_HUMAN		all cancers(107;1.05e-18)|GBM - Glioblastoma multiforme(94;4.23e-07)|COAD - Colon adenocarcinoma(120;0.0668)|Colorectal(133;0.068)	16	2085	-		all_cancers(109;3.79e-11)|all_epithelial(112;2.92e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)	628			Cytoplasmic (Potential).		A8MQ13|D2XI64|Q9NR02|Q9UHF9	Nonsense_Mutation	SNP	ENST00000603300.1	37	c.1882A>T	CCDS10117.1	.	.	.	.	.	.	.	.	.	.	T	41	8.604804	0.98881	.	.	ENSG00000140279	ENST00000389039	.	.	.	5.42	4.23	0.50019	.	0.274575	0.40640	N	0.001058	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06365	T	0.9	-20.3721	10.1334	0.42693	0.0:0.0:0.1675:0.8325	.	.	.	.	X	628	.	ENSP00000373691:K628X	K	-	1	0	DUOX2	43186081	1.000000	0.71417	0.990000	0.47175	0.459000	0.32528	3.258000	0.51507	2.050000	0.60909	0.374000	0.22700	AAG		PASS	0.562	DUOX2-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_014080		52	165	52	165	---	---	---	---
DUOX2	50506	broad.mit.edu	37	15	45401780	45401780	+	Silent	SNP	C	C	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr15:45401780C>A	ENST00000603300.1	-	11	1378	c.1176G>T	c.(1174-1176)ctG>ctT	p.L392L	DUOX2_ENST00000389039.6_Silent_p.L392L	NM_014080.4	NP_054799.4	Q9NRD8	DUOX2_HUMAN	dual oxidase 2	392	Peroxidase-like; mediates peroxidase activity. {ECO:0000250}.				adenohypophysis morphogenesis (GO:0048855)|bone mineralization (GO:0030282)|cuticle development (GO:0042335)|cytokine-mediated signaling pathway (GO:0019221)|fertilization (GO:0009566)|hormone biosynthetic process (GO:0042446)|hydrogen peroxide catabolic process (GO:0042744)|inner ear development (GO:0048839)|multicellular organism growth (GO:0035264)|oxidation-reduction process (GO:0055114)|response to cAMP (GO:0051591)|response to virus (GO:0009615)|thyroid gland development (GO:0030878)|thyroid hormone generation (GO:0006590)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|heme binding (GO:0020037)|NAD(P)H oxidase activity (GO:0016174)|peroxidase activity (GO:0004601)	p.L392L(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1)	63		all_cancers(109;3.79e-11)|all_epithelial(112;2.92e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;1.05e-18)|GBM - Glioblastoma multiforme(94;4.23e-07)|COAD - Colon adenocarcinoma(120;0.0668)|Colorectal(133;0.068)		AGGCCATTCCCAGCAGCAGCT	0.522																																						uc010bea.2																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|skin(2)|pancreas(1)	5						c.(1174-1176)CTG>CTT		dual oxidase 2 precursor							111.0	101.0	105.0					15																	45401780		2198	4298	6496	SO:0001819	synonymous_variant	50506				cuticle development|cytokine-mediated signaling pathway|hormone biosynthetic process|hydrogen peroxide catabolic process|response to cAMP|response to virus	apical plasma membrane|integral to membrane	calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|peroxidase activity	g.chr15:45401780C>A	AF181972	CCDS10117.1	15q15.3-q21	2013-01-10			ENSG00000140279	ENSG00000140279		"""EF-hand domain containing"""	13273	protein-coding gene	gene with protein product	"""dual oxidase-like domains 2"", ""nicotinamide adenine dinucleotide phosphate oxidase"", ""flavoprotein NADPH oxidase"", ""NADPH thyroid oxidase 2"", ""NADH/NADPH thyroid oxidase p138-tox"", ""NADPH oxidase/peroxidase DUOX2"""	606759				10601291, 10806195	Standard	NM_014080		Approved	P138-TOX, P138(TOX), THOX2, LNOX2	uc010bea.3	Q9NRD8	OTTHUMG00000131355	ENST00000603300.1:c.1176G>T	15.37:g.45401780C>A						DUOX2_uc001zun.2_Silent_p.L392L	p.L392L	NM_014080	NP_054799	Q9NRD8	DUOX2_HUMAN		all cancers(107;1.05e-18)|GBM - Glioblastoma multiforme(94;4.23e-07)|COAD - Colon adenocarcinoma(120;0.0668)|Colorectal(133;0.068)	11	1379	-		all_cancers(109;3.79e-11)|all_epithelial(112;2.92e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)	392			Extracellular (Potential).|Peroxidase-like; mediates peroxidase activity (By similarity).		A8MQ13|D2XI64|Q9NR02|Q9UHF9	Silent	SNP	ENST00000603300.1	37	c.1176G>T	CCDS10117.1																																																																																				PASS	0.522	DUOX2-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_014080		58	81	58	81	---	---	---	---
GABPB1	2553	broad.mit.edu	37	15	50581845	50581845	+	Missense_Mutation	SNP	C	C	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr15:50581845C>A	ENST00000220429.8	-	7	922	c.754G>T	c.(754-756)Gtt>Ttt	p.V252F	GABPB1_ENST00000543881.1_Missense_Mutation_p.V176F|GABPB1_ENST00000359031.4_Missense_Mutation_p.V240F|GABPB1_ENST00000560825.1_Missense_Mutation_p.V239F|GABPB1_ENST00000380877.3_Missense_Mutation_p.V240F|GABPB1_ENST00000429662.2_Missense_Mutation_p.V252F|GABPB1_ENST00000396464.3_Missense_Mutation_p.V240F			Q06547	GABP1_HUMAN	GA binding protein transcription factor, beta subunit 1	252					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	protein heterodimerization activity (GO:0046982)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)	p.V252F(1)		cervix(1)|endometrium(1)|large_intestine(7)|lung(5)	14						TCTGCAGTAACTACTTCTTCT	0.378																																						uc001zyb.2																			1	Substitution - Missense(1)		lung(1)	large_intestine(1)	1						c.(754-756)GTT>TTT		GA binding protein transcription factor, beta							65.0	63.0	63.0					15																	50581845		2196	4295	6491	SO:0001583	missense	2553				positive regulation of transcription from RNA polymerase II promoter	nucleus	protein binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding	g.chr15:50581845C>A	D13316	CCDS10135.1, CCDS10136.1, CCDS32239.1, CCDS45258.1	15q21.2	2013-01-10	2008-02-25	2008-02-25	ENSG00000104064	ENSG00000104064		"""Ankyrin repeat domain containing"""	4074	protein-coding gene	gene with protein product		600610	"""GA binding protein transcription factor, beta subunit 2"""	GABPB2		7958862	Standard	NM_016655		Approved	E4TF1-47, GABPB	uc001zyb.3	Q06547	OTTHUMG00000131642	ENST00000220429.8:c.754G>T	15.37:g.50581845C>A	ENSP00000220429:p.Val252Phe					GABPB1_uc001zya.2_Missense_Mutation_p.V240F|GABPB1_uc010ufg.1_Missense_Mutation_p.V176F|GABPB1_uc001zyc.2_Missense_Mutation_p.V240F|GABPB1_uc001zyd.2_Missense_Mutation_p.V240F|GABPB1_uc001zye.2_Missense_Mutation_p.V252F|GABPB1_uc001zyf.2_Missense_Mutation_p.V239F	p.V252F	NM_005254	NP_005245	Q06547	GABP1_HUMAN			7	1178	-			252					A8IE52|Q06545|Q12940|Q12941|Q12942|Q8IYD0	Missense_Mutation	SNP	ENST00000220429.8	37	c.754G>T	CCDS32239.1	.	.	.	.	.	.	.	.	.	.	C	21.0	4.089886	0.76756	.	.	ENSG00000104064	ENST00000220429;ENST00000380877;ENST00000543881;ENST00000396464;ENST00000429662;ENST00000359031	T;T;T;T;T	0.69435	-0.4;0.66;-0.31;-0.31;-0.31	5.99	5.99	0.97316	.	0.000000	0.85682	D	0.000000	T	0.77896	0.4199	L	0.43152	1.355	0.80722	D	1	D;P;D;D;D	0.71674	0.998;0.925;0.994;0.99;0.994	D;P;D;D;D	0.78314	0.991;0.773;0.98;0.969;0.98	T	0.74006	-0.3803	10	0.38643	T	0.18	-17.8232	20.4777	0.99188	0.0:1.0:0.0:0.0	.	252;252;240;252;240	B7Z726;Q06547-3;Q06547-4;Q06547;Q06547-2	.;.;.;GABP1_HUMAN;.	F	240;252;176;240;252;240	ENSP00000370259:V252F;ENSP00000442500:V176F;ENSP00000379728:V240F;ENSP00000395771:V252F;ENSP00000351923:V240F	ENSP00000220429:V240F	V	-	1	0	GABPB1	48369137	1.000000	0.71417	0.998000	0.56505	0.614000	0.37383	6.327000	0.72910	2.840000	0.97914	0.655000	0.94253	GTT		PASS	0.378	GABPB1-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000418294.1			17	59	17	59	---	---	---	---
CYP19A1	1588	broad.mit.edu	37	15	51503227	51503227	+	Missense_Mutation	SNP	A	A	C			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr15:51503227A>C	ENST00000396402.1	-	10	1443	c.1290T>G	c.(1288-1290)ttT>ttG	p.F430L	CYP19A1_ENST00000559878.1_Missense_Mutation_p.F430L|RP11-108K3.1_ENST00000559909.1_lincRNA|CYP19A1_ENST00000260433.2_Missense_Mutation_p.F430L|CYP19A1_ENST00000396404.4_Missense_Mutation_p.F430L	NM_000103.3	NP_000094.2	P11511	CP19A_HUMAN	cytochrome P450, family 19, subfamily A, polypeptide 1	430					androgen metabolic process (GO:0008209)|estrogen biosynthetic process (GO:0006703)|prostate gland growth (GO:0060736)|small molecule metabolic process (GO:0044281)|steroid biosynthetic process (GO:0006694)|steroid metabolic process (GO:0008202)|sterol metabolic process (GO:0016125)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|membrane (GO:0016020)	aromatase activity (GO:0070330)|electron carrier activity (GO:0009055)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen (GO:0016712)|oxygen binding (GO:0019825)	p.F430L(1)		endometrium(1)|kidney(4)|large_intestine(9)|lung(11)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	33				all cancers(107;0.000372)|GBM - Glioblastoma multiforme(94;0.0128)	Aminoglutethimide(DB00357)|Anastrozole(DB01217)|Betamethasone(DB00443)|Bifonazole(DB04794)|Buserelin(DB06719)|Carbimazole(DB00389)|Chlorphenesin(DB00856)|Clomifene(DB00882)|Clotrimazole(DB00257)|Cyproterone acetate(DB04839)|Danazol(DB01406)|Dexamethasone(DB01234)|Diethylstilbestrol(DB00255)|Dinoprostone(DB00917)|Drostanolone(DB00858)|Econazole(DB01127)|Edetic Acid(DB00974)|Etomidate(DB00292)|Exemestane(DB00990)|Ketoconazole(DB01026)|Letrozole(DB01006)|Levomethadyl Acetate(DB01227)|Levonorgestrel(DB00367)|Mefloquine(DB00358)|Melatonin(DB01065)|Methadone(DB00333)|Methyltestosterone(DB06710)|Miconazole(DB01110)|Nandrolone decanoate(DB08804)|Nandrolone phenpropionate(DB00984)|Nicotine(DB00184)|Paclitaxel(DB01229)|Raloxifene(DB00481)|Sulfathiazole(DB06147)|Tamoxifen(DB00675)|Terbinafine(DB00857)|Testolactone(DB00894)|Testosterone(DB00624)|Tioconazole(DB01007)|Trastuzumab(DB00072)	GCCCAAAGCCAAATGGCTGAA	0.448																																					Melanoma(142;1016 1807 39614 48966 51721)	uc001zyz.3																			1	Substitution - Missense(1)		lung(1)	skin(3)	3						c.(1288-1290)TTT>TTG		cytochrome P450, family 19	Aminoglutethimide(DB00357)|Anastrozole(DB01217)|Conjugated Estrogens(DB00286)|Danazol(DB01406)|Diethylstilbestrol(DB00255)|Exemestane(DB00990)|Letrozole(DB01006)|Testolactone(DB00894)|Testosterone(DB00624)						82.0	68.0	72.0					15																	51503227		2196	4293	6489	SO:0001583	missense	1588				estrogen biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum membrane|membrane fraction	aromatase activity|electron carrier activity|heme binding|oxygen binding|steroid hydroxylase activity	g.chr15:51503227A>C	D14473	CCDS10139.1	15q21	2009-01-26	2003-02-14	2003-02-28	ENSG00000137869	ENSG00000137869		"""Cytochrome P450s"""	2594	protein-coding gene	gene with protein product		107910	"""cytochrome P450, subfamily XIX (aromatization of androgens)"""	CYP19		8477708	Standard	NM_031226		Approved	ARO, P-450AROM, CPV1, ARO1, CYAR, aromatase	uc001zza.4	P11511	OTTHUMG00000131747	ENST00000396402.1:c.1290T>G	15.37:g.51503227A>C	ENSP00000379683:p.Phe430Leu					CYP19A1_uc001zza.3_Missense_Mutation_p.F430L	p.F430L	NM_031226	NP_112503	P11511	CP19A_HUMAN		all cancers(107;0.000372)|GBM - Glioblastoma multiforme(94;0.0128)	11	1541	-			430					Q16731|Q3B764|Q58FA0|Q8IYJ7	Missense_Mutation	SNP	ENST00000396402.1	37	c.1290T>G	CCDS10139.1	.	.	.	.	.	.	.	.	.	.	A	23.4	4.414806	0.83449	.	.	ENSG00000137869	ENST00000396402;ENST00000260433;ENST00000396404	D;D;D	0.96300	-3.97;-3.97;-3.97	5.37	3.04	0.35103	Cytochrome P450, conserved site (1);	0.000000	0.85682	D	0.000000	D	0.98614	0.9536	H	0.97940	4.11	0.54753	D	0.999989	D	0.89917	1.0	D	0.85130	0.997	D	0.98096	1.0412	10	0.87932	D	0	-18.7907	9.3529	0.38149	0.8536:0.0:0.1464:0.0	.	430	P11511	CP19A_HUMAN	L	430	ENSP00000379683:F430L;ENSP00000260433:F430L;ENSP00000379685:F430L	ENSP00000260433:F430L	F	-	3	2	CYP19A1	49290519	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	0.870000	0.28010	0.979000	0.38497	0.482000	0.46254	TTT		PASS	0.448	CYP19A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254669.1			35	74	35	74	---	---	---	---
DMXL2	23312	broad.mit.edu	37	15	51757049	51757049	+	Missense_Mutation	SNP	C	C	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr15:51757049C>A	ENST00000251076.5	-	32	7915	c.7628G>T	c.(7627-7629)gGt>gTt	p.G2543V	RP11-707P17.1_ENST00000561007.1_RNA|DMXL2_ENST00000449909.3_Missense_Mutation_p.G1907V|DMXL2_ENST00000543779.2_Missense_Mutation_p.G2544V	NM_001174116.1|NM_015263.3	NP_001167587.1|NP_056078.2	Q8TDJ6	DMXL2_HUMAN	Dmx-like 2	2543						cell junction (GO:0030054)|extracellular space (GO:0005615)|membrane (GO:0016020)|synaptic vesicle (GO:0008021)	Rab GTPase binding (GO:0017137)	p.G2543V(1)		breast(4)|central_nervous_system(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(26)|liver(1)|lung(28)|ovary(7)|prostate(7)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	101				all cancers(107;0.00494)		CACAGCAATACCTAATGGTGA	0.343																																						uc002abf.2																			1	Substitution - Missense(1)		lung(1)	ovary(6)|skin(3)	9						c.(7627-7629)GGT>GTT		Dmx-like 2							119.0	112.0	114.0					15																	51757049		2196	4293	6489	SO:0001583	missense	23312					cell junction|synaptic vesicle membrane	Rab GTPase binding	g.chr15:51757049C>A	AB020663	CCDS10141.1, CCDS53945.1, CCDS53946.1	15q21.2	2013-01-10			ENSG00000104093	ENSG00000104093		"""WD repeat domain containing"""	2938	protein-coding gene	gene with protein product	"""rabconnectin 3"""	612186					Standard	NM_001174116		Approved	RC3, KIAA0856	uc010ufy.2	Q8TDJ6	OTTHUMG00000131749	ENST00000251076.5:c.7628G>T	15.37:g.51757049C>A	ENSP00000251076:p.Gly2543Val					DMXL2_uc002abd.2_Missense_Mutation_p.G614V|DMXL2_uc010ufy.1_Missense_Mutation_p.G2544V|DMXL2_uc010bfa.2_Missense_Mutation_p.G1907V	p.G2543V	NM_015263	NP_056078	Q8TDJ6	DMXL2_HUMAN		all cancers(107;0.00494)	32	7853	-			2543					B2RTR3|B7ZMH3|F5GWF1|O94938	Missense_Mutation	SNP	ENST00000251076.5	37	c.7628G>T	CCDS10141.1	.	.	.	.	.	.	.	.	.	.	C	14.90	2.673854	0.47781	.	.	ENSG00000104093	ENST00000251076;ENST00000543779;ENST00000449909;ENST00000436119	T;T;T	0.20463	2.21;2.21;2.07	5.25	5.25	0.73442	.	0.141255	0.64402	D	0.000004	T	0.28200	0.0696	L	0.31207	0.915	0.80722	D	1	P;D;D;B	0.64830	0.673;0.994;0.961;0.069	B;P;P;B	0.57911	0.225;0.829;0.617;0.035	T	0.01027	-1.1476	10	0.07990	T	0.79	.	19.4069	0.94651	0.0:1.0:0.0:0.0	.	2544;1907;2543;2544	F5GWF1;B2RTR3;Q8TDJ6;B7ZMH3	.;.;DMXL2_HUMAN;.	V	2543;2544;1907;88	ENSP00000251076:G2543V;ENSP00000441858:G2544V;ENSP00000400855:G1907V	ENSP00000251076:G2543V	G	-	2	0	DMXL2	49544341	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.278000	0.78587	2.894000	0.99253	0.591000	0.81541	GGT		PASS	0.343	DMXL2-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000254671.2	NM_015263		66	85	66	85	---	---	---	---
UNC13C	440279	broad.mit.edu	37	15	54527271	54527271	+	Missense_Mutation	SNP	C	C	G			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr15:54527271C>G	ENST00000260323.11	+	4	3115	c.3115C>G	c.(3115-3117)Cgc>Ggc	p.R1039G	UNC13C_ENST00000537900.1_Missense_Mutation_p.R1039G|UNC13C_ENST00000545554.1_Missense_Mutation_p.R1039G	NM_001080534.1	NP_001074003.1	Q8NB66	UN13C_HUMAN	unc-13 homolog C (C. elegans)	1039					exocytosis (GO:0006887)|intracellular signal transduction (GO:0035556)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)	diacylglycerol binding (GO:0019992)|metal ion binding (GO:0046872)	p.R1039G(2)		breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		GCCGGATCTTCGCAGAAAAAA	0.358																																						uc002ack.2																			2	Substitution - Missense(2)		lung(2)	ovary(5)|pancreas(2)	7						c.(3115-3117)CGC>GGC		unc-13 homolog C							148.0	138.0	141.0					15																	54527271		1849	4096	5945	SO:0001583	missense	440279				exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding	g.chr15:54527271C>G	AK091491	CCDS45264.1	15q21.3	2012-10-02			ENSG00000137766	ENSG00000137766			23149	protein-coding gene	gene with protein product		614568					Standard	NM_001080534		Approved	Munc13-3, DKFZp547H074	uc021smr.1	Q8NB66	OTTHUMG00000172542	ENST00000260323.11:c.3115C>G	15.37:g.54527271C>G	ENSP00000260323:p.Arg1039Gly						p.R1039G	NM_001080534	NP_001074003	Q8NB66	UN13C_HUMAN		GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)	4	3115	+			1039					Q0P613|Q8ND48|Q96NP3	Missense_Mutation	SNP	ENST00000260323.11	37	c.3115C>G	CCDS45264.1	.	.	.	.	.	.	.	.	.	.	C	17.03	3.285516	0.59867	.	.	ENSG00000137766	ENST00000260323;ENST00000545554;ENST00000537900	D;D;D	0.83837	-1.75;-1.77;-1.75	5.67	4.74	0.60224	.	0.244355	0.40554	N	0.001065	D	0.90473	0.7016	M	0.79475	2.455	0.44685	D	0.997673	D	0.76494	0.999	D	0.79784	0.993	D	0.91668	0.5348	10	0.87932	D	0	.	14.053	0.64749	0.1522:0.8478:0.0:0.0	.	1039	Q8NB66	UN13C_HUMAN	G	1039	ENSP00000260323:R1039G;ENSP00000438156:R1039G;ENSP00000442569:R1039G	ENSP00000260323:R1039G	R	+	1	0	UNC13C	52314563	1.000000	0.71417	0.996000	0.52242	0.583000	0.36354	4.415000	0.59809	1.503000	0.48686	0.591000	0.81541	CGC		PASS	0.358	UNC13C-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000419028.3	NM_173166		24	51	24	51	---	---	---	---
PRTG	283659	broad.mit.edu	37	15	55970146	55970146	+	Silent	SNP	C	C	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr15:55970146C>T	ENST00000389286.4	-	8	1277	c.1230G>A	c.(1228-1230)ctG>ctA	p.L410L	RP11-420M1.2_ENST00000561155.1_RNA	NM_173814.4	NP_776175.2			protogenin									p.L410L(1)		breast(1)|endometrium(6)|kidney(4)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	41				all cancers(107;0.00891)|GBM - Glioblastoma multiforme(80;0.135)		TCACTACAGTCAGTCTGGCTC	0.418																																						uc002adg.2																			1	Substitution - coding silent(1)		lung(1)	large_intestine(1)|ovary(1)|skin(1)	3						c.(1228-1230)CTG>CTA		protogenin precursor							80.0	75.0	76.0					15																	55970146		1867	4105	5972	SO:0001819	synonymous_variant	283659				multicellular organismal development	integral to membrane		g.chr15:55970146C>T	AK098622	CCDS42040.1	15q21.3	2013-02-11	2010-06-24		ENSG00000166450	ENSG00000166450		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	26373	protein-coding gene	gene with protein product	"""immunoglobulin superfamily, DCC subclass, member 5"""	613261	"""protogenin homolog (Gallus gallus)"""				Standard	NM_173814		Approved	FLJ25756, IGDCC5	uc002adg.3	Q2VWP7		ENST00000389286.4:c.1230G>A	15.37:g.55970146C>T						PRTG_uc002adh.2_5'Flank	p.L410L	NM_173814	NP_776175	Q2VWP7	PRTG_HUMAN		all cancers(107;0.00891)|GBM - Glioblastoma multiforme(80;0.135)	8	1278	-			410			Ig-like 4.			Silent	SNP	ENST00000389286.4	37	c.1230G>A	CCDS42040.1																																																																																				PASS	0.418	PRTG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419357.1	NM_173814		58	67	58	67	---	---	---	---
HERC1	8925	broad.mit.edu	37	15	63922665	63922665	+	Splice_Site	SNP	C	C	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr15:63922665C>T	ENST00000443617.2	-	69	13053	c.12966G>A	c.(12964-12966)caG>caA	p.Q4322Q		NM_003922.3	NP_003913.3	Q15751	HERC1_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase family member 1	4322					cerebellar Purkinje cell differentiation (GO:0021702)|negative regulation of autophagy (GO:0010507)|neuromuscular process controlling balance (GO:0050885)|neuron projection development (GO:0031175)|positive regulation of GTPase activity (GO:0043547)|transport (GO:0006810)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)	p.Q4322Q(2)		NS(3)|breast(9)|central_nervous_system(4)|endometrium(23)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(22)|liver(1)|lung(36)|ovary(7)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	132						AAATATTTACCTGCCCTTCTG	0.418																																						uc002amp.2																			2	Substitution - coding silent(2)		lung(2)	ovary(6)|breast(6)|lung(5)|central_nervous_system(2)	19						c.(12964-12966)CAG>CAA		hect domain and RCC1-like domain 1							174.0	171.0	172.0					15																	63922665		1884	4119	6003	SO:0001630	splice_region_variant	8925				protein modification process|transport	cytosol|Golgi apparatus|membrane	acid-amino acid ligase activity|ARF guanyl-nucleotide exchange factor activity	g.chr15:63922665C>T	U50078	CCDS45277.1	15q22	2013-01-10	2012-02-23			ENSG00000103657		"""WD repeat domain containing"""	4867	protein-coding gene	gene with protein product		605109	"""hect (homologous to the E6-AP (UBE3A) carboxyl terminus) domain and RCC1 (CHC1)-like domain (RLD) 1"""			8861955, 9233772	Standard	NM_003922		Approved	p532, p619	uc002amp.3	Q15751		ENST00000443617.2:c.12966+1G>A	15.37:g.63922665C>T							p.Q4322Q	NM_003922	NP_003913	Q15751	HERC1_HUMAN			69	13114	-			4322			RCC1 14.|WD 11.		Q8IW65	Silent	SNP	ENST00000443617.2	37	c.12966G>A	CCDS45277.1																																																																																				PASS	0.418	HERC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418523.1	NM_003922	Silent	73	260	73	260	---	---	---	---
CORO2B	10391	broad.mit.edu	37	15	69011060	69011060	+	Missense_Mutation	SNP	G	G	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr15:69011060G>T	ENST00000566799.1	+	9	1020	c.991G>T	c.(991-993)Gat>Tat	p.D331Y	CORO2B_ENST00000261861.5_Missense_Mutation_p.D326Y|CORO2B_ENST00000540068.1_Missense_Mutation_p.D326Y|CORO2B_ENST00000543950.1_Missense_Mutation_p.D326Y			Q9UQ03	COR2B_HUMAN	coronin, actin binding protein, 2B	331					actin cytoskeleton organization (GO:0030036)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|membrane (GO:0016020)	actin binding (GO:0003779)|actin filament binding (GO:0051015)	p.D331Y(1)		kidney(3)|large_intestine(13)|lung(11)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	36						GCACGGGCTGGATGTGTCAGC	0.597																																						uc002arj.3																			1	Substitution - Missense(1)		lung(1)	ovary(3)|skin(2)|large_intestine(1)	6						c.(991-993)GAT>TAT		coronin, actin binding protein, 2B							84.0	63.0	70.0					15																	69011060		2200	4298	6498	SO:0001583	missense	10391				actin cytoskeleton organization	actin cytoskeleton|cytoplasm|membrane	actin filament binding	g.chr15:69011060G>T	AB010098	CCDS53952.1, CCDS10229.2	15q22.31	2013-01-10	2001-11-28		ENSG00000103647	ENSG00000103647		"""Coronins"", ""WD repeat domain containing"""	2256	protein-coding gene	gene with protein product	"""clipin C"", ""coronin, actin-binding, 2B"""	605002	"""coronin, actin-binding protein, 2B"""			10224093, 10231032	Standard	NM_001190456		Approved	ClipinC, KIAA0925	uc021spj.1	Q9UQ03	OTTHUMG00000133288	ENST00000566799.1:c.991G>T	15.37:g.69011060G>T	ENSP00000454783:p.Asp331Tyr					CORO2B_uc010bic.2_Missense_Mutation_p.D326Y|CORO2B_uc002ark.2_Missense_Mutation_p.D98Y	p.D331Y	NM_006091	NP_006082	Q9UQ03	COR2B_HUMAN			9	1020	+			331					A8K0W3|O94767|Q8TAN1	Missense_Mutation	SNP	ENST00000566799.1	37	c.991G>T	CCDS10229.2	.	.	.	.	.	.	.	.	.	.	G	25.9	4.680436	0.88542	.	.	ENSG00000103647	ENST00000261861;ENST00000540068;ENST00000543950	T;T	0.41758	0.99;0.99	5.34	5.34	0.76211	Domain of unknown function DUF1900 (1);	0.000000	0.85682	D	0.000000	T	0.74275	0.3695	H	0.94925	3.6	0.80722	D	1	D	0.71674	0.998	D	0.70016	0.967	T	0.82448	-0.0452	10	0.87932	D	0	-23.0267	17.6064	0.88039	0.0:0.0:1.0:0.0	.	331	Q9UQ03	COR2B_HUMAN	Y	331;326;326	ENSP00000446250:D326Y;ENSP00000443819:D326Y	ENSP00000261861:D331Y	D	+	1	0	CORO2B	66798114	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	9.239000	0.95389	2.508000	0.84585	0.460000	0.39030	GAT		PASS	0.597	CORO2B-203	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_006091		11	50	11	50	---	---	---	---
CORO2B	10391	broad.mit.edu	37	15	69018240	69018240	+	Missense_Mutation	SNP	C	C	G			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr15:69018240C>G	ENST00000566799.1	+	12	1399	c.1370C>G	c.(1369-1371)gCc>gGc	p.A457G	CORO2B_ENST00000261861.5_Missense_Mutation_p.A452G|CORO2B_ENST00000540068.1_Missense_Mutation_p.A452G|CORO2B_ENST00000543950.1_Missense_Mutation_p.A452G			Q9UQ03	COR2B_HUMAN	coronin, actin binding protein, 2B	457					actin cytoskeleton organization (GO:0030036)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|membrane (GO:0016020)	actin binding (GO:0003779)|actin filament binding (GO:0051015)	p.A457G(1)		kidney(3)|large_intestine(13)|lung(11)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	36						GAGGAGCTGGCCCAGAAGGAC	0.577																																						uc002arj.3																			1	Substitution - Missense(1)		lung(1)	ovary(3)|skin(2)|large_intestine(1)	6						c.(1369-1371)GCC>GGC		coronin, actin binding protein, 2B							68.0	68.0	68.0					15																	69018240		2200	4298	6498	SO:0001583	missense	10391				actin cytoskeleton organization	actin cytoskeleton|cytoplasm|membrane	actin filament binding	g.chr15:69018240C>G	AB010098	CCDS53952.1, CCDS10229.2	15q22.31	2013-01-10	2001-11-28		ENSG00000103647	ENSG00000103647		"""Coronins"", ""WD repeat domain containing"""	2256	protein-coding gene	gene with protein product	"""clipin C"", ""coronin, actin-binding, 2B"""	605002	"""coronin, actin-binding protein, 2B"""			10224093, 10231032	Standard	NM_001190456		Approved	ClipinC, KIAA0925	uc021spj.1	Q9UQ03	OTTHUMG00000133288	ENST00000566799.1:c.1370C>G	15.37:g.69018240C>G	ENSP00000454783:p.Ala457Gly					CORO2B_uc010bic.2_Missense_Mutation_p.A452G|CORO2B_uc002ark.2_Missense_Mutation_p.A224G	p.A457G	NM_006091	NP_006082	Q9UQ03	COR2B_HUMAN			12	1399	+			457			Potential.		A8K0W3|O94767|Q8TAN1	Missense_Mutation	SNP	ENST00000566799.1	37	c.1370C>G	CCDS10229.2	.	.	.	.	.	.	.	.	.	.	C	9.542	1.113642	0.20795	.	.	ENSG00000103647	ENST00000261861;ENST00000540068;ENST00000543950	T;T	0.58940	0.3;0.3	3.62	2.66	0.31614	.	0.718523	0.13933	N	0.352774	T	0.37758	0.1015	N	0.14661	0.345	0.23483	N	0.997582	B	0.02656	0.0	B	0.04013	0.001	T	0.18398	-1.0338	10	0.23302	T	0.38	-6.0188	10.8191	0.46593	0.0:0.6285:0.3715:0.0	.	457	Q9UQ03	COR2B_HUMAN	G	457;452;452	ENSP00000446250:A452G;ENSP00000443819:A452G	ENSP00000261861:A457G	A	+	2	0	CORO2B	66805294	0.996000	0.38824	0.930000	0.37139	0.817000	0.46193	2.212000	0.42835	0.589000	0.29677	0.442000	0.29010	GCC		PASS	0.577	CORO2B-203	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_006091		30	66	30	66	---	---	---	---
LRRC49	54839	broad.mit.edu	37	15	71256238	71256238	+	Missense_Mutation	SNP	G	G	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr15:71256238G>T	ENST00000260382.5	+	9	1148	c.888G>T	c.(886-888)atG>atT	p.M296I	LRRC49_ENST00000544974.2_Missense_Mutation_p.M286I|LRRC49_ENST00000436542.2_3'UTR|LRRC49_ENST00000560369.1_Missense_Mutation_p.M301I|LRRC49_ENST00000560691.1_Missense_Mutation_p.M2I|LRRC49_ENST00000443425.2_Missense_Mutation_p.M252I|LRRC49_ENST00000560158.2_Intron	NM_001199017.1|NM_017691.3	NP_001185946.1|NP_060161.2	Q8IUZ0	LRC49_HUMAN	leucine rich repeat containing 49	296	LRRCT.					cytoplasm (GO:0005737)|microtubule (GO:0005874)		p.M296I(1)		breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|lung(14)|ovary(2)|prostate(3)|skin(3)	34						AGAATATGATGCAGCTGCGCC	0.468																																						uc002asw.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(886-888)ATG>ATT		leucine rich repeat containing 49							144.0	126.0	132.0					15																	71256238		2199	4297	6496	SO:0001583	missense	54839					cytoplasm|microtubule		g.chr15:71256238G>T		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.888G>T	15.37:g.71256238G>T	ENSP00000260382:p.Met296Ile					LRRC49_uc002asu.2_Missense_Mutation_p.M286I|LRRC49_uc002asx.2_Missense_Mutation_p.M252I|LRRC49_uc010ukf.1_Missense_Mutation_p.M301I|LRRC49_uc002asy.2_Missense_Mutation_p.M2I|LRRC49_uc002asz.2_Missense_Mutation_p.M268I	p.M296I	NM_017691	NP_060161	Q8IUZ0	LRC49_HUMAN			9	1135	+			296			LRRCT.		B3KVX1|B7Z366|F5H1J4|G5E9T5|H0YLN4|Q9NXM6	Missense_Mutation	SNP	ENST00000260382.5	37	c.888G>T	CCDS32282.1	.	.	.	.	.	.	.	.	.	.	G	10.25	1.299204	0.23650	.	.	ENSG00000137821	ENST00000544974;ENST00000260382;ENST00000443425;ENST00000436542	T;T;T	0.53857	0.6;0.6;0.6	5.35	3.46	0.39613	.	0.126221	0.56097	D	0.000034	T	0.35068	0.0919	N	0.19112	0.55	0.38886	D	0.95701	B;B;B;B;B	0.10296	0.001;0.003;0.001;0.001;0.001	B;B;B;B;B	0.13407	0.003;0.007;0.009;0.002;0.003	T	0.23368	-1.0190	10	0.44086	T	0.13	-11.8466	9.2947	0.37808	0.1746:0.0:0.8254:0.0	.	301;268;252;296;286	B7Z366;G5E9Q1;G5E9T5;Q8IUZ0;F5H1J4	.;.;.;LRC49_HUMAN;.	I	286;296;252;268	ENSP00000439600:M286I;ENSP00000260382:M296I;ENSP00000414065:M252I	ENSP00000260382:M296I	M	+	3	0	LRRC49	69043292	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.877000	0.48506	1.409000	0.46915	0.563000	0.77884	ATG		PASS	0.468	LRRC49-006	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000417209.3	NM_017691		40	71	40	71	---	---	---	---
MYO9A	4649	broad.mit.edu	37	15	72324912	72324912	+	Missense_Mutation	SNP	C	C	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr15:72324912C>A	ENST00000356056.5	-	3	1330	c.858G>T	c.(856-858)aaG>aaT	p.K286N	MYO9A_ENST00000564571.1_Missense_Mutation_p.K286N|MYO9A_ENST00000444904.1_Missense_Mutation_p.K286N|RP11-390D11.1_ENST00000568391.1_RNA|MYO9A_ENST00000566885.1_5'UTR|MYO9A_ENST00000424560.1_Missense_Mutation_p.K286N|MYO9A_ENST00000563542.1_5'UTR	NM_006901.3	NP_008832.2	B2RTY4	MYO9A_HUMAN	myosin IXA	286	Myosin motor.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|visual perception (GO:0007601)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)|unconventional myosin complex (GO:0016461)	ATP binding (GO:0005524)|GTPase activator activity (GO:0005096)|metal ion binding (GO:0046872)|motor activity (GO:0003774)	p.K286N(1)		NS(4)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(29)|lung(27)|ovary(1)|pancreas(1)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						TATGAGCTGTCTTTGCATTTC	0.358																																						uc002atl.3																			1	Substitution - Missense(1)		lung(1)	ovary(1)|pancreas(1)|skin(1)	3						c.(856-858)AAG>AAT		myosin IXA							87.0	83.0	84.0					15																	72324912		2199	4297	6496	SO:0001583	missense	4649				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|visual perception	cytosol|integral to membrane|unconventional myosin complex	actin binding|ATP binding|GTPase activator activity|metal ion binding|motor activity	g.chr15:72324912C>A	AF117888	CCDS10239.1	15q22-q23	2011-09-27			ENSG00000066933	ENSG00000066933		"""Myosins / Myosin superfamily : Class IX"""	7608	protein-coding gene	gene with protein product		604875				10409426	Standard	NM_006901		Approved	FLJ11061, FLJ13244, MGC71859	uc002atl.5	B2RTY4	OTTHUMG00000133440	ENST00000356056.5:c.858G>T	15.37:g.72324912C>A	ENSP00000348349:p.Lys286Asn					MYO9A_uc010biq.2_5'UTR|MYO9A_uc002ato.2_Missense_Mutation_p.K286N|MYO9A_uc002atn.1_Missense_Mutation_p.K286N	p.K286N	NM_006901	NP_008832	B2RTY4	MYO9A_HUMAN			3	1331	-			286			Myosin head-like 1.		B0I1T5|C9IYB3|C9JA86|Q14787|Q3YLD7|Q3YLD8|Q6P986|Q9H8T5|Q9NTG2|Q9NUY2|Q9UEP3|Q9UNJ2	Missense_Mutation	SNP	ENST00000356056.5	37	c.858G>T	CCDS10239.1	.	.	.	.	.	.	.	.	.	.	C	17.83	3.484349	0.63962	.	.	ENSG00000066933	ENST00000356056;ENST00000424560;ENST00000444904;ENST00000261864;ENST00000446448	T;T;T	0.75938	-0.98;-0.98;-0.98	5.27	2.39	0.29439	Myosin head, motor domain (3);	.	.	.	.	D	0.89065	0.6609	H	0.97440	4.005	0.58432	D	0.999991	D;D;D	0.89917	1.0;1.0;0.999	D;D;D	0.83275	0.986;0.994;0.996	D	0.87008	0.2121	9	0.87932	D	0	.	7.4452	0.27207	0.0:0.5757:0.0:0.4243	.	286;286;286	B2RTY4-3;B7WP69;B2RTY4	.;.;MYO9A_HUMAN	N	286	ENSP00000348349:K286N;ENSP00000399162:K286N;ENSP00000398250:K286N	ENSP00000261864:K286N	K	-	3	2	MYO9A	70111966	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	1.322000	0.33689	0.229000	0.21039	0.655000	0.94253	AAG		PASS	0.358	MYO9A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257308.1	NM_006901		24	80	24	80	---	---	---	---
ISLR2	57611	broad.mit.edu	37	15	74425228	74425228	+	Missense_Mutation	SNP	G	G	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr15:74425228G>T	ENST00000361742.3	+	4	902	c.133G>T	c.(133-135)Gtg>Ttg	p.V45L	ISLR2_ENST00000565159.1_Missense_Mutation_p.V45L|ISLR2_ENST00000419208.1_Missense_Mutation_p.V45L|ISLR2_ENST00000435464.1_Missense_Mutation_p.V45L|ISLR2_ENST00000445793.1_Missense_Mutation_p.V45L|ISLR2_ENST00000565540.1_Missense_Mutation_p.V45L|ISLR2_ENST00000561975.1_Intron|ISLR2_ENST00000453268.2_Missense_Mutation_p.V45L	NM_001130136.1|NM_020851.2	NP_001123608.1|NP_065902.1	Q6UXK2	ISLR2_HUMAN	immunoglobulin superfamily containing leucine-rich repeat 2	45	LRRNT.				positive regulation of axon extension (GO:0045773)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.V45L(1)		breast(3)|endometrium(6)|large_intestine(7)|lung(17)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	36						GTTGCGTGAGGTGCCGGAAGG	0.637																																						uc002axd.2																			1	Substitution - Missense(1)		lung(1)		0						c.(133-135)GTG>TTG		immunoglobulin superfamily containing							84.0	72.0	76.0					15																	74425228		2198	4297	6495	SO:0001583	missense	57611				positive regulation of axon extension	cell surface|integral to membrane|plasma membrane		g.chr15:74425228G>T		CCDS10259.1	15q24.1	2013-01-11			ENSG00000167178	ENSG00000167178		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	29286	protein-coding gene	gene with protein product		614179				10819331, 12975309	Standard	NM_001130136		Approved	KIAA1465	uc010bjf.3	Q6UXK2	OTTHUMG00000137624	ENST00000361742.3:c.133G>T	15.37:g.74425228G>T	ENSP00000355402:p.Val45Leu					ISLR2_uc002axe.2_Missense_Mutation_p.V45L|ISLR2_uc010bjg.2_Missense_Mutation_p.V45L|ISLR2_uc010bjf.2_Missense_Mutation_p.V45L	p.V45L	NM_001130136	NP_001123608	Q6UXK2	ISLR2_HUMAN			4	902	+			45			Extracellular (Potential).|LRRNT.		A8K352|Q9P263	Missense_Mutation	SNP	ENST00000361742.3	37	c.133G>T	CCDS10259.1	.	.	.	.	.	.	.	.	.	.	G	18.50	3.637648	0.67130	.	.	ENSG00000167178	ENST00000445793;ENST00000361742;ENST00000435464;ENST00000453268;ENST00000395121;ENST00000419208	T;T;T;T;T	0.49720	0.77;0.77;0.77;0.77;0.77	4.66	4.66	0.58398	Leucine-rich repeat-containing N-terminal (1);	0.000000	0.64402	D	0.000002	T	0.61652	0.2364	M	0.83483	2.645	0.58432	D	0.999999	D	0.55800	0.973	P	0.53549	0.729	T	0.67511	-0.5652	10	0.59425	D	0.04	.	11.1283	0.48333	0.0854:0.0:0.9146:0.0	.	45	Q6UXK2	ISLR2_HUMAN	L	45	ENSP00000403244:V45L;ENSP00000355402:V45L;ENSP00000411443:V45L;ENSP00000411834:V45L;ENSP00000408872:V45L	ENSP00000355402:V45L	V	+	1	0	ISLR2	72212281	1.000000	0.71417	0.990000	0.47175	0.511000	0.34104	6.657000	0.74402	2.151000	0.67156	0.407000	0.27541	GTG		PASS	0.637	ISLR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269046.1	NM_020851		26	107	26	107	---	---	---	---
CLK3	1198	broad.mit.edu	37	15	74912388	74912388	+	Missense_Mutation	SNP	G	G	T	rs146399462		TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr15:74912388G>T	ENST00000395066.3	+	3	1096	c.635G>T	c.(634-636)cGc>cTc	p.R212L	CLK3_ENST00000345005.4_Missense_Mutation_p.R64L|CLK3_ENST00000352989.5_Missense_Mutation_p.R64L|CLK3_ENST00000348245.3_Missense_Mutation_p.R64L	NM_001130028.1	NP_001123500.1	P49761	CLK3_HUMAN	CDC-like kinase 3	212	Arg-rich.				protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of RNA splicing (GO:0043484)	cytoplasmic vesicle (GO:0031410)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)	p.R64L(1)|p.R212L(1)		breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(2)|stomach(2)|urinary_tract(1)	15						TACCGGGAGCGCCGTGACAGC	0.607																																					Ovarian(133;694 1754 28950 29027 31859)	uc010uln.1																			2	Substitution - Missense(2)		lung(2)	stomach(2)	2						c.(634-636)CGC>CTC		CDC-like kinase 3 isoform a							141.0	121.0	128.0					15																	74912388		2197	4296	6493	SO:0001583	missense	1198					acrosomal vesicle|nucleus	ATP binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr15:74912388G>T	L29220	CCDS10265.1, CCDS45304.1	15q24	2008-05-02			ENSG00000179335	ENSG00000179335		"""CDC-like kinases"""	2071	protein-coding gene	gene with protein product		602990				7990150, 9856501	Standard	NM_003992		Approved	clk3	uc010uln.2	P49761	OTTHUMG00000141320	ENST00000395066.3:c.635G>T	15.37:g.74912388G>T	ENSP00000378505:p.Arg212Leu					CLK3_uc002ayg.3_Missense_Mutation_p.R64L|CLK3_uc002ayh.3_5'UTR|CLK3_uc010ulm.1_Missense_Mutation_p.R212L|CLK3_uc002ayj.3_Missense_Mutation_p.R64L|CLK3_uc002ayk.3_5'UTR	p.R212L	NM_001130028	NP_001123500	P49761	CLK3_HUMAN			3	1096	+			212			Arg-rich.		D3DW59|Q53Y48|Q9BRS3|Q9BUJ7	Missense_Mutation	SNP	ENST00000395066.3	37	c.635G>T	CCDS45304.1	.	.	.	.	.	.	.	.	.	.	G	17.15	3.317111	0.60524	.	.	ENSG00000179335	ENST00000345005;ENST00000395066;ENST00000454830;ENST00000352989;ENST00000348245	T;T	0.52295	0.67;0.67	5.95	-1.84	0.07809	.	0.405817	0.24074	N	0.041792	T	0.37489	0.1005	L	0.49778	1.585	0.23550	N	0.997432	B;P;B	0.44090	0.003;0.826;0.001	B;B;B	0.43225	0.002;0.412;0.004	T	0.30966	-0.9960	10	0.48119	T	0.1	.	6.7654	0.23564	0.4037:0.1122:0.4841:0.0	.	212;212;64	P49761;B3KRI8;G5E959	CLK3_HUMAN;.;.	L	64;64;212;64;64	ENSP00000344112:R64L;ENSP00000323106:R64L	ENSP00000344112:R64L	R	+	2	0	CLK3	72699441	0.989000	0.36119	0.652000	0.29579	0.975000	0.68041	0.765000	0.26546	-0.330000	0.08514	0.655000	0.94253	CGC		PASS	0.607	CLK3-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000390442.3			25	123	25	123	---	---	---	---
C15orf39	56905	broad.mit.edu	37	15	75499670	75499670	+	Silent	SNP	A	A	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr15:75499670A>T	ENST00000360639.2	+	2	1601	c.1281A>T	c.(1279-1281)tcA>tcT	p.S427S	C15orf39_ENST00000567617.1_Silent_p.S427S|C15orf39_ENST00000394987.4_Silent_p.S427S			Q6ZRI6	CO039_HUMAN	chromosome 15 open reading frame 39	427						cytoplasm (GO:0005737)		p.S427S(1)		autonomic_ganglia(1)|breast(2)|endometrium(3)|large_intestine(4)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	16						AGCCCTGCTCAGAGCCTGTGA	0.642																																						uc002azp.3																			1	Substitution - coding silent(1)		lung(1)		0						c.(1279-1281)TCA>TCT		hypothetical protein LOC56905							37.0	42.0	40.0					15																	75499670		2197	4295	6492	SO:0001819	synonymous_variant	56905							g.chr15:75499670A>T	AK128205	CCDS10276.1	15q23	2013-03-14	2005-10-24		ENSG00000167173	ENSG00000167173			24497	protein-coding gene	gene with protein product			"""chromosome 15 open reading frame 38~Name Same As HGNC:28782"""				Standard	NM_015492		Approved	DKFZP434H132, FLJ46337	uc002azq.4	Q6ZRI6	OTTHUMG00000142820	ENST00000360639.2:c.1281A>T	15.37:g.75499670A>T						C15orf39_uc002azq.3_Silent_p.S427S|C15orf39_uc002azr.3_5'Flank	p.S427S	NM_015492	NP_056307	Q6ZRI6	CO039_HUMAN			2	1601	+			427					B3KWI3|C9J888|Q71JB1|Q7L3S0|Q8N3F2|Q96FB6|Q9NTU5	Silent	SNP	ENST00000360639.2	37	c.1281A>T	CCDS10276.1																																																																																				PASS	0.642	C15orf39-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286410.1	NM_015492		22	55	22	55	---	---	---	---
CSPG4	1464	broad.mit.edu	37	15	75968836	75968836	+	Silent	SNP	G	G	T	rs150399169		TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr15:75968836G>T	ENST00000308508.5	-	10	6116	c.6024C>A	c.(6022-6024)ggC>ggA	p.G2008G	CTD-2026K11.1_ENST00000569467.1_RNA|AC105020.1_ENST00000435356.1_5'Flank	NM_001897.4	NP_001888.2	Q6UVK1	CSPG4_HUMAN	chondroitin sulfate proteoglycan 4	2008	Cysteine-containing.|Neurite growth inhibition. {ECO:0000250}.				activation of MAPK activity (GO:0000187)|angiogenesis (GO:0001525)|carbohydrate metabolic process (GO:0005975)|cell proliferation (GO:0008283)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|glial cell migration (GO:0008347)|glycosaminoglycan metabolic process (GO:0030203)|intracellular signal transduction (GO:0035556)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|small molecule metabolic process (GO:0044281)|tissue remodeling (GO:0048771)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell projection (GO:0042995)|cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|lysosomal lumen (GO:0043202)	protein kinase binding (GO:0019901)|signal transducer activity (GO:0004871)	p.G2008G(1)		breast(1)|cervix(2)|endometrium(5)|kidney(5)|large_intestine(3)|liver(2)|lung(18)|ovary(2)|pancreas(2)|prostate(4)|skin(4)	48						AGACCACCTCGCCCTGGTCTA	0.597																																						uc002baw.2																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|pancreas(1)	3						c.(6022-6024)GGC>GGA		chondroitin sulfate proteoglycan 4 precursor							72.0	71.0	71.0					15																	75968836		2197	4294	6491	SO:0001819	synonymous_variant	1464				angiogenesis|cell differentiation|intracellular signal transduction|positive regulation of peptidyl-tyrosine phosphorylation|tissue remodeling	apical plasma membrane|cell surface|integral to plasma membrane|intracellular|lamellipodium membrane	protein kinase binding|signal transducer activity	g.chr15:75968836G>T	X96753, AY359468	CCDS10284.1	15q24.2	2010-04-19	2007-02-16		ENSG00000173546	ENSG00000173546		"""Proteoglycans / Cell surface : Other"""	2466	protein-coding gene	gene with protein product	"""melanoma-associated chondroitin sulfate proteoglycan"""	601172	"""chondroitin sulfate proteoglycan 4 (melanoma-associated)"""			8790396, 16407841	Standard	NM_001897		Approved	MCSPG, MEL-CSPG, MSK16, NG2, MCSP, HMW-MAA	uc002baw.3	Q6UVK1	OTTHUMG00000142836	ENST00000308508.5:c.6024C>A	15.37:g.75968836G>T							p.G2008G	NM_001897	NP_001888	Q6UVK1	CSPG4_HUMAN			10	6117	-			2008			Extracellular (Potential).|CSPG 14.|Cysteine-containing.|Neurite growth inhibition (By similarity).		D3DW77|Q92675	Silent	SNP	ENST00000308508.5	37	c.6024C>A	CCDS10284.1																																																																																				PASS	0.597	CSPG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286472.1	NM_001897		84	103	84	103	---	---	---	---
CSPG4	1464	broad.mit.edu	37	15	75979665	75979665	+	Silent	SNP	G	G	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr15:75979665G>T	ENST00000308508.5	-	3	3833	c.3741C>A	c.(3739-3741)atC>atA	p.I1247I		NM_001897.4	NP_001888.2	Q6UVK1	CSPG4_HUMAN	chondroitin sulfate proteoglycan 4	1247	Gly/Ser-rich (glycosaminoglycan attachment domain).|Interaction with COL5A1. {ECO:0000250}.				activation of MAPK activity (GO:0000187)|angiogenesis (GO:0001525)|carbohydrate metabolic process (GO:0005975)|cell proliferation (GO:0008283)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|glial cell migration (GO:0008347)|glycosaminoglycan metabolic process (GO:0030203)|intracellular signal transduction (GO:0035556)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|small molecule metabolic process (GO:0044281)|tissue remodeling (GO:0048771)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell projection (GO:0042995)|cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|lysosomal lumen (GO:0043202)	protein kinase binding (GO:0019901)|signal transducer activity (GO:0004871)	p.I1247I(1)		breast(1)|cervix(2)|endometrium(5)|kidney(5)|large_intestine(3)|liver(2)|lung(18)|ovary(2)|pancreas(2)|prostate(4)|skin(4)	48						GGAAGACGTAGATCTTCTTGT	0.617																																						uc002baw.2																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|pancreas(1)	3						c.(3739-3741)ATC>ATA		chondroitin sulfate proteoglycan 4 precursor							72.0	78.0	75.0					15																	75979665		2194	4282	6476	SO:0001819	synonymous_variant	1464				angiogenesis|cell differentiation|intracellular signal transduction|positive regulation of peptidyl-tyrosine phosphorylation|tissue remodeling	apical plasma membrane|cell surface|integral to plasma membrane|intracellular|lamellipodium membrane	protein kinase binding|signal transducer activity	g.chr15:75979665G>T	X96753, AY359468	CCDS10284.1	15q24.2	2010-04-19	2007-02-16		ENSG00000173546	ENSG00000173546		"""Proteoglycans / Cell surface : Other"""	2466	protein-coding gene	gene with protein product	"""melanoma-associated chondroitin sulfate proteoglycan"""	601172	"""chondroitin sulfate proteoglycan 4 (melanoma-associated)"""			8790396, 16407841	Standard	NM_001897		Approved	MCSPG, MEL-CSPG, MSK16, NG2, MCSP, HMW-MAA	uc002baw.3	Q6UVK1	OTTHUMG00000142836	ENST00000308508.5:c.3741C>A	15.37:g.75979665G>T							p.I1247I	NM_001897	NP_001888	Q6UVK1	CSPG4_HUMAN			3	3834	-			1247			CSPG 8.|Extracellular (Potential).|Gly/Ser-rich (glycosaminoglycan attachment domain).|Interaction with COL5A1 (By similarity).		D3DW77|Q92675	Silent	SNP	ENST00000308508.5	37	c.3741C>A	CCDS10284.1																																																																																				PASS	0.617	CSPG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286472.1	NM_001897		33	136	33	136	---	---	---	---
CSPG4	1464	broad.mit.edu	37	15	75982632	75982632	+	Silent	SNP	G	G	T	rs549929588		TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr15:75982632G>T	ENST00000308508.5	-	3	866	c.774C>A	c.(772-774)ggC>ggA	p.G258G		NM_001897.4	NP_001888.2	Q6UVK1	CSPG4_HUMAN	chondroitin sulfate proteoglycan 4	258	Globular or compact configuration stabilized by disulfide bonds.|Laminin G-like 2. {ECO:0000255|PROSITE- ProRule:PRU00122}.|Neurite growth inhibition. {ECO:0000250}.				activation of MAPK activity (GO:0000187)|angiogenesis (GO:0001525)|carbohydrate metabolic process (GO:0005975)|cell proliferation (GO:0008283)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|glial cell migration (GO:0008347)|glycosaminoglycan metabolic process (GO:0030203)|intracellular signal transduction (GO:0035556)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|small molecule metabolic process (GO:0044281)|tissue remodeling (GO:0048771)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell projection (GO:0042995)|cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|lysosomal lumen (GO:0043202)	protein kinase binding (GO:0019901)|signal transducer activity (GO:0004871)	p.G258G(1)		breast(1)|cervix(2)|endometrium(5)|kidney(5)|large_intestine(3)|liver(2)|lung(18)|ovary(2)|pancreas(2)|prostate(4)|skin(4)	48						CCCGCAGGTGGCCCTCAAATA	0.617																																						uc002baw.2																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|pancreas(1)	3						c.(772-774)GGC>GGA		chondroitin sulfate proteoglycan 4 precursor							38.0	36.0	37.0					15																	75982632		2196	4291	6487	SO:0001819	synonymous_variant	1464				angiogenesis|cell differentiation|intracellular signal transduction|positive regulation of peptidyl-tyrosine phosphorylation|tissue remodeling	apical plasma membrane|cell surface|integral to plasma membrane|intracellular|lamellipodium membrane	protein kinase binding|signal transducer activity	g.chr15:75982632G>T	X96753, AY359468	CCDS10284.1	15q24.2	2010-04-19	2007-02-16		ENSG00000173546	ENSG00000173546		"""Proteoglycans / Cell surface : Other"""	2466	protein-coding gene	gene with protein product	"""melanoma-associated chondroitin sulfate proteoglycan"""	601172	"""chondroitin sulfate proteoglycan 4 (melanoma-associated)"""			8790396, 16407841	Standard	NM_001897		Approved	MCSPG, MEL-CSPG, MSK16, NG2, MCSP, HMW-MAA	uc002baw.3	Q6UVK1	OTTHUMG00000142836	ENST00000308508.5:c.774C>A	15.37:g.75982632G>T							p.G258G	NM_001897	NP_001888	Q6UVK1	CSPG4_HUMAN			3	867	-			258			Extracellular (Potential).|Neurite growth inhibition (By similarity).|Globular or compact configuration stabilized by disulfide bonds.|Laminin G-like 2.		D3DW77|Q92675	Silent	SNP	ENST00000308508.5	37	c.774C>A	CCDS10284.1																																																																																				PASS	0.617	CSPG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286472.1	NM_001897		11	51	11	51	---	---	---	---
ETFA	2108	broad.mit.edu	37	15	76566836	76566836	+	Splice_Site	SNP	C	C	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr15:76566836C>T	ENST00000557943.1	-	9	814		c.e9-1		ETFA_ENST00000560816.1_Splice_Site|ETFA_ENST00000433983.2_Splice_Site|ETFA_ENST00000560726.1_Splice_Site|ETFA_ENST00000559602.1_Splice_Site	NM_000126.3	NP_000117.1	P13804	ETFA_HUMAN	electron-transfer-flavoprotein, alpha polypeptide						cellular metabolic process (GO:0044237)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	electron carrier activity (GO:0009055)|flavin adenine dinucleotide binding (GO:0050660)|oxidoreductase activity (GO:0016491)	p.?(1)		endometrium(1)|large_intestine(3)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	9						GAAGCACCAACTAAGGGGAAA	0.363																																						uc002bbt.2																			1	Unknown(1)		lung(1)		0						c.e9-1		electron transfer flavoprotein, alpha							69.0	69.0	69.0					15																	76566836		2197	4294	6491	SO:0001630	splice_region_variant	2108				respiratory electron transport chain|transport	mitochondrial matrix	electron carrier activity|flavin adenine dinucleotide binding|oxidoreductase activity	g.chr15:76566836C>T	J04058	CCDS32299.1, CCDS45311.1	15q23-q25	2012-04-04	2008-08-01		ENSG00000140374	ENSG00000140374			3481	protein-coding gene	gene with protein product	"""glutaric aciduria II"""	608053					Standard	NM_000126		Approved	GA2, EMA, MADD	uc002bbt.2	P13804	OTTHUMG00000172586	ENST00000557943.1:c.734-1G>A	15.37:g.76566836C>T						ETFA_uc010bkq.1_Splice_Site_p.V196_splice|ETFA_uc002bbu.1_Splice_Site_p.V245_splice	p.V245_splice	NM_000126	NP_000117	P13804	ETFA_HUMAN			9	815	-								B4DT43|Q53XN3	Splice_Site	SNP	ENST00000557943.1	37	c.734_splice	CCDS32299.1	.	.	.	.	.	.	.	.	.	.	c	25.1	4.608081	0.87258	.	.	ENSG00000140374	ENST00000433983;ENST00000267950	.	.	.	5.91	5.91	0.95273	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.8649	0.92287	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	ETFA	74353891	1.000000	0.71417	1.000000	0.80357	0.930000	0.56654	6.940000	0.75917	2.804000	0.96469	0.650000	0.86243	.		PASS	0.363	ETFA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419302.2	NM_000126	Intron	16	39	16	39	---	---	---	---
LINGO1	84894	broad.mit.edu	37	15	77907420	77907420	+	Missense_Mutation	SNP	C	C	G	rs111741384	byFrequency	TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr15:77907420C>G	ENST00000355300.6	-	2	1003	c.829G>C	c.(829-831)Gct>Cct	p.A277P	LINGO1_ENST00000561030.1_Missense_Mutation_p.A271P	NM_032808.5	NP_116197.4	Q96FE5	LIGO1_HUMAN	leucine rich repeat and Ig domain containing 1	277					central nervous system neuron development (GO:0021954)|negative regulation of axonogenesis (GO:0050771)|negative regulation of oligodendrocyte differentiation (GO:0048715)|neuron projection development (GO:0031175)|neurotrophin TRK receptor signaling pathway (GO:0048011)|protein kinase B signaling (GO:0043491)|regulation of axonogenesis (GO:0050770)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.A271P(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(16)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	31						TAGGGCACAGCGGTCAGATTG	0.577																																						uc002bct.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|lung(1)	2						c.(829-831)GCT>CCT		leucine-rich repeat neuronal 6A							121.0	122.0	122.0					15																	77907420		2192	4288	6480	SO:0001583	missense	84894				negative regulation of axonogenesis|nerve growth factor receptor signaling pathway	integral to membrane|plasma membrane		g.chr15:77907420C>G	AK027500	CCDS45313.1, CCDS73766.1	15q24	2013-01-11	2007-02-01	2007-02-01		ENSG00000169783		"""Immunoglobulin superfamily / I-set domain containing"""	21205	protein-coding gene	gene with protein product		609791	"""leucine rich repeat neuronal 6A"""	LRRN6A		14686891	Standard	XM_006720723		Approved	FLJ14594, LERN1	uc002bct.1	Q96FE5		ENST00000355300.6:c.829G>C	15.37:g.77907420C>G	ENSP00000347451:p.Ala277Pro					LINGO1_uc002bcu.1_Missense_Mutation_p.A271P	p.A277P	NM_032808	NP_116197	Q96FE5	LIGO1_HUMAN			2	881	-			277			Extracellular (Potential).|LRR 8.		D3DW80|Q6NUK3|Q6UXM3|Q6VVG0|Q6VVG1|Q6VVG2|Q8N3K5|Q96K52	Missense_Mutation	SNP	ENST00000355300.6	37	c.829G>C	CCDS45313.1	.	.	.	.	.	.	.	.	.	.	C	12.47	1.947297	0.34377	.	.	ENSG00000169783	ENST00000355300	T	0.80033	-1.33	5.47	4.56	0.56223	.	0.103374	0.64402	D	0.000003	T	0.73473	0.3591	L	0.58810	1.83	0.50467	D	0.999872	P	0.40250	0.709	B	0.36092	0.217	T	0.73170	-0.4067	10	0.49607	T	0.09	.	7.7295	0.28779	0.2668:0.6515:0.0:0.0817	.	277	Q96FE5	LIGO1_HUMAN	P	277	ENSP00000347451:A277P	ENSP00000347451:A277P	A	-	1	0	LINGO1	75694475	0.627000	0.27129	0.911000	0.35937	0.704000	0.40688	1.163000	0.31798	1.325000	0.45301	-0.258000	0.10820	GCT		PASS	0.577	LINGO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419546.1	NM_032808		21	68	21	68	---	---	---	---
RASGRF1	5923	broad.mit.edu	37	15	79277507	79277507	+	Missense_Mutation	SNP	C	C	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr15:79277507C>A	ENST00000419573.3	-	24	3578	c.3304G>T	c.(3304-3306)Gac>Tac	p.D1102Y	RASGRF1_ENST00000558480.2_Missense_Mutation_p.D1086Y|RP11-16K12.1_ENST00000316148.4_RNA|RASGRF1_ENST00000394745.3_Missense_Mutation_p.D318Y|RASGRF1_ENST00000560334.1_5'UTR	NM_002891.4	NP_002882.3	Q13972	RGRF1_HUMAN	Ras protein-specific guanine nucleotide-releasing factor 1	1102	Ras-GEF. {ECO:0000255|PROSITE- ProRule:PRU00168}.				activation of Rac GTPase activity (GO:0032863)|cell proliferation (GO:0008283)|long-term memory (GO:0007616)|neuron projection development (GO:0031175)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of Ras protein signal transduction (GO:0046579)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of neuronal synaptic plasticity (GO:0048168)|regulation of Rac protein signal transduction (GO:0035020)|regulation of Ras protein signal transduction (GO:0046578)|regulation of synaptic plasticity (GO:0048167)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)|growth cone (GO:0030426)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	guanyl-nucleotide exchange factor activity (GO:0005085)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.D1102Y(1)		breast(2)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(18)|lung(23)|ovary(2)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						GCGTTGATGTCCTCATTGCGG	0.478																																						uc002beq.2																			1	Substitution - Missense(1)		lung(1)	skin(4)|ovary(1)|central_nervous_system(1)	6						c.(3304-3306)GAC>TAC		Ras protein-specific guanine							146.0	122.0	130.0					15																	79277507		2196	4293	6489	SO:0001583	missense	5923				activation of Rac GTPase activity|apoptosis|induction of apoptosis by extracellular signals|long-term memory|nerve growth factor receptor signaling pathway|neuron projection development|regulation of Rac protein signal transduction|small GTPase mediated signal transduction|synaptic transmission	cytosol|growth cone|plasma membrane|synaptosome	Rho guanyl-nucleotide exchange factor activity	g.chr15:79277507C>A	M91815	CCDS10309.1, CCDS42065.1, CCDS45320.1	15q24	2013-01-10			ENSG00000058335	ENSG00000058335		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	9875	protein-coding gene	gene with protein product		606600		GRF1		7684828, 1379731	Standard	NM_153815		Approved	CDC25L, CDC25, GRF55, H-GRF55, GNRP, PP13187	uc002beq.3	Q13972	OTTHUMG00000144172	ENST00000419573.3:c.3304G>T	15.37:g.79277507C>A	ENSP00000405963:p.Asp1102Tyr					RASGRF1_uc002bep.2_Missense_Mutation_p.D1086Y|RASGRF1_uc010blm.1_Missense_Mutation_p.D1011Y|RASGRF1_uc002ber.3_Missense_Mutation_p.D1086Y|RASGRF1_uc002beo.2_Missense_Mutation_p.D318Y	p.D1102Y	NM_002891	NP_002882	Q13972	RGRF1_HUMAN			24	3679	-			1104			Ras-GEF.		F8VPA5|H0YKF2|J3KQP9|Q16027	Missense_Mutation	SNP	ENST00000419573.3	37	c.3304G>T	CCDS10309.1	.	.	.	.	.	.	.	.	.	.	C	15.64	2.893069	0.52121	.	.	ENSG00000058335	ENST00000419573;ENST00000394741;ENST00000394745	T;T	0.34072	1.38;1.38	4.55	4.55	0.56014	Guanine-nucleotide dissociation stimulator CDC25 (4);Ras guanine nucleotide exchange factor, domain (1);	0.124595	0.52532	D	0.000064	T	0.61590	0.2359	M	0.86740	2.835	0.80722	D	1	D;P;P	0.61697	0.99;0.955;0.905	P;P;P	0.60541	0.876;0.695;0.665	T	0.69971	-0.5000	10	0.87932	D	0	.	15.1922	0.73053	0.0:1.0:0.0:0.0	.	1086;1104;1086	Q8IUU5;Q13972;F8VPA5	.;RGRF1_HUMAN;.	Y	1102;1086;318	ENSP00000405963:D1102Y;ENSP00000378228:D318Y	ENSP00000378224:D1086Y	D	-	1	0	RASGRF1	77064562	1.000000	0.71417	0.967000	0.41034	0.415000	0.31203	7.090000	0.76916	2.500000	0.84329	0.655000	0.94253	GAC		PASS	0.478	RASGRF1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000291371.3	NM_002891		73	89	73	89	---	---	---	---
NTRK3	4916	broad.mit.edu	37	15	88476298	88476298	+	Missense_Mutation	SNP	G	G	C	rs373273419		TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr15:88476298G>C	ENST00000360948.2	-	15	1995	c.1834C>G	c.(1834-1836)Ccc>Gcc	p.P612A	NTRK3_ENST00000557856.1_Missense_Mutation_p.P604A|NTRK3_ENST00000542733.2_Missense_Mutation_p.P514A|NTRK3_ENST00000394480.2_Missense_Mutation_p.P612A|NTRK3_ENST00000355254.2_Missense_Mutation_p.P612A|NTRK3_ENST00000357724.2_Missense_Mutation_p.P604A|NTRK3_ENST00000558676.1_Missense_Mutation_p.P604A	NM_001012338.2	NP_001012338.1	Q16288	NTRK3_HUMAN	neurotrophic tyrosine kinase, receptor, type 3	612	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of MAPK activity (GO:0000187)|activation of protein kinase B activity (GO:0032148)|activation of Ras GTPase activity (GO:0032856)|cellular response to retinoic acid (GO:0071300)|circadian rhythm (GO:0007623)|cochlea development (GO:0090102)|lens fiber cell differentiation (GO:0070306)|mechanoreceptor differentiation (GO:0042490)|modulation by virus of host transcription (GO:0019056)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of cell death (GO:0060548)|negative regulation of protein phosphorylation (GO:0001933)|neuron fate specification (GO:0048665)|neuron migration (GO:0001764)|neurotrophin signaling pathway (GO:0038179)|positive regulation of actin cytoskeleton reorganization (GO:2000251)|positive regulation of axon extension involved in regeneration (GO:0048691)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of positive chemotaxis (GO:0050927)|protein autophosphorylation (GO:0046777)|response to axon injury (GO:0048678)|response to corticosterone (GO:0051412)|response to ethanol (GO:0045471)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|neurotrophin binding (GO:0043121)|neurotrophin receptor activity (GO:0005030)|p53 binding (GO:0002039)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)	p.P612A(2)	ETV6/NTRK3(238)	breast(3)|central_nervous_system(3)|endometrium(6)|kidney(1)|large_intestine(22)|lung(63)|ovary(6)|pancreas(3)|prostate(1)|skin(4)|stomach(5)|upper_aerodigestive_tract(2)	119			BRCA - Breast invasive adenocarcinoma(143;0.211)			ATGATGAGGGGGTCCCCATCG	0.557			T	ETV6	"""congenital fibrosarcoma, Secretory breast """					TSP Lung(13;0.10)																												uc002bme.1				Dom	yes		15	15q25	4916	T	"""neurotrophic tyrosine kinase, receptor, type 3"""			"""E, M"""	ETV6		congenital fibrosarcoma|Secretory breast 	ETV6/NTRK3(234)	2	Substitution - Missense(2)		lung(2)	soft_tissue(85)|kidney(66)|breast(56)|salivary_gland(26)|lung(22)|large_intestine(6)|ovary(6)|stomach(5)|central_nervous_system(3)|pancreas(3)|haematopoietic_and_lymphoid_tissue(2)|skin(1)	281						c.(1834-1836)CCC>GCC		neurotrophic tyrosine kinase, receptor, type 3							81.0	70.0	74.0					15																	88476298		2201	4299	6500	SO:0001583	missense	4916				transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity	g.chr15:88476298G>C	U05012	CCDS10340.1, CCDS32322.1, CCDS32323.1, CCDS58399.1	15q24-q25	2013-01-11			ENSG00000140538	ENSG00000140538	2.7.10.1	"""Immunoglobulin superfamily / I-set domain containing"""	8033	protein-coding gene	gene with protein product		191316				7806211	Standard	NM_001012338		Approved	TRKC	uc002bme.2	Q16288	OTTHUMG00000148677	ENST00000360948.2:c.1834C>G	15.37:g.88476298G>C	ENSP00000354207:p.Pro612Ala	TSP Lung(13;0.10)				NTRK3_uc002bmh.2_Missense_Mutation_p.P604A|NTRK3_uc002bmf.1_Missense_Mutation_p.P612A|NTRK3_uc010upl.1_Missense_Mutation_p.P514A|NTRK3_uc010bnh.1_Missense_Mutation_p.P604A	p.P612A	NM_001012338	NP_001012338	Q16288	NTRK3_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.211)		15	1996	-			612			Cytoplasmic (Potential).|Protein kinase.		B7Z4C5|E9PG56|H0YND1|O75682|Q12827|Q16289	Missense_Mutation	SNP	ENST00000360948.2	37	c.1834C>G	CCDS32322.1	.	.	.	.	.	.	.	.	.	.	G	28.5	4.925118	0.92319	.	.	ENSG00000140538	ENST00000394480;ENST00000360948;ENST00000357724;ENST00000355254;ENST00000542733;ENST00000343782	D;D;D;D;D	0.83755	-1.76;-1.76;-1.76;-1.76;-1.76	5.49	5.49	0.81192	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	0.91402	0.7287	M	0.78223	2.4	0.80722	D	1	D;D;D;D;P	0.89917	1.0;1.0;1.0;1.0;0.933	D;D;D;D;P	0.87578	0.998;0.998;0.997;0.997;0.897	D	0.92172	0.5744	10	0.87932	D	0	.	18.3583	0.90365	0.0:0.0:1.0:0.0	.	514;604;604;612;612	B7Z7U4;E9PG56;B7Z4C5;Q16288-3;Q16288	.;.;.;.;NTRK3_HUMAN	A	612;612;604;612;514;108	ENSP00000377990:P612A;ENSP00000354207:P612A;ENSP00000350356:P604A;ENSP00000347397:P612A;ENSP00000437773:P514A	ENSP00000342792:P108A	P	-	1	0	NTRK3	86277302	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	9.633000	0.98432	2.574000	0.86865	0.650000	0.86243	CCC		PASS	0.557	NTRK3-204	KNOWN	basic|CCDS	protein_coding	protein_coding				22	36	22	36	---	---	---	---
NTRK3	4916	broad.mit.edu	37	15	88669594	88669594	+	Missense_Mutation	SNP	G	G	T	rs370373691		TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr15:88669594G>T	ENST00000360948.2	-	12	1465	c.1304C>A	c.(1303-1305)gCa>gAa	p.A435E	NTRK3_ENST00000557856.1_Missense_Mutation_p.A427E|NTRK3_ENST00000542733.2_Missense_Mutation_p.A337E|NTRK3_ENST00000394480.2_Missense_Mutation_p.A435E|NTRK3_ENST00000558306.1_Intron|NTRK3_ENST00000540489.2_Missense_Mutation_p.A435E|NTRK3_ENST00000355254.2_Missense_Mutation_p.A435E|NTRK3_ENST00000357724.2_Missense_Mutation_p.A427E|NTRK3_ENST00000558676.1_Missense_Mutation_p.A427E|NTRK3_ENST00000317501.3_Missense_Mutation_p.A435E	NM_001012338.2	NP_001012338.1	Q16288	NTRK3_HUMAN	neurotrophic tyrosine kinase, receptor, type 3	435					activation of MAPK activity (GO:0000187)|activation of protein kinase B activity (GO:0032148)|activation of Ras GTPase activity (GO:0032856)|cellular response to retinoic acid (GO:0071300)|circadian rhythm (GO:0007623)|cochlea development (GO:0090102)|lens fiber cell differentiation (GO:0070306)|mechanoreceptor differentiation (GO:0042490)|modulation by virus of host transcription (GO:0019056)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of cell death (GO:0060548)|negative regulation of protein phosphorylation (GO:0001933)|neuron fate specification (GO:0048665)|neuron migration (GO:0001764)|neurotrophin signaling pathway (GO:0038179)|positive regulation of actin cytoskeleton reorganization (GO:2000251)|positive regulation of axon extension involved in regeneration (GO:0048691)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of positive chemotaxis (GO:0050927)|protein autophosphorylation (GO:0046777)|response to axon injury (GO:0048678)|response to corticosterone (GO:0051412)|response to ethanol (GO:0045471)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|neurotrophin binding (GO:0043121)|neurotrophin receptor activity (GO:0005030)|p53 binding (GO:0002039)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)	p.A435E(3)	ETV6/NTRK3(238)	breast(3)|central_nervous_system(3)|endometrium(6)|kidney(1)|large_intestine(22)|lung(63)|ovary(6)|pancreas(3)|prostate(1)|skin(4)|stomach(5)|upper_aerodigestive_tract(2)	119			BRCA - Breast invasive adenocarcinoma(143;0.211)			AAGTCCAACTGCTATGGATAC	0.443			T	ETV6	"""congenital fibrosarcoma, Secretory breast """					TSP Lung(13;0.10)																												uc002bme.1				Dom	yes		15	15q25	4916	T	"""neurotrophic tyrosine kinase, receptor, type 3"""			"""E, M"""	ETV6		congenital fibrosarcoma|Secretory breast 	ETV6/NTRK3(234)	3	Substitution - Missense(3)		lung(3)	soft_tissue(85)|kidney(66)|breast(56)|salivary_gland(26)|lung(22)|large_intestine(6)|ovary(6)|stomach(5)|central_nervous_system(3)|pancreas(3)|haematopoietic_and_lymphoid_tissue(2)|skin(1)	281						c.(1303-1305)GCA>GAA		neurotrophic tyrosine kinase, receptor, type 3							105.0	92.0	96.0					15																	88669594		2201	4299	6500	SO:0001583	missense	4916				transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity	g.chr15:88669594G>T	U05012	CCDS10340.1, CCDS32322.1, CCDS32323.1, CCDS58399.1	15q24-q25	2013-01-11			ENSG00000140538	ENSG00000140538	2.7.10.1	"""Immunoglobulin superfamily / I-set domain containing"""	8033	protein-coding gene	gene with protein product		191316				7806211	Standard	NM_001012338		Approved	TRKC	uc002bme.2	Q16288	OTTHUMG00000148677	ENST00000360948.2:c.1304C>A	15.37:g.88669594G>T	ENSP00000354207:p.Ala435Glu	TSP Lung(13;0.10)				NTRK3_uc002bmh.2_Missense_Mutation_p.A427E|NTRK3_uc002bmf.1_Missense_Mutation_p.A435E|NTRK3_uc010upl.1_Missense_Mutation_p.A337E|NTRK3_uc010bnh.1_Missense_Mutation_p.A427E|NTRK3_uc002bmg.2_Missense_Mutation_p.A435E	p.A435E	NM_001012338	NP_001012338	Q16288	NTRK3_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.211)		12	1466	-			435			Helical; (Potential).		B7Z4C5|E9PG56|H0YND1|O75682|Q12827|Q16289	Missense_Mutation	SNP	ENST00000360948.2	37	c.1304C>A	CCDS32322.1	.	.	.	.	.	.	.	.	.	.	G	18.53	3.643536	0.67244	.	.	ENSG00000140538	ENST00000394480;ENST00000360948;ENST00000357724;ENST00000355254;ENST00000542733;ENST00000540489;ENST00000317501	T;T;T;T;T;T;T	0.74842	-0.87;-0.82;-0.88;-0.87;-0.77;-0.14;-0.14	5.63	5.63	0.86233	.	0.000000	0.85682	D	0.000000	D	0.86146	0.5863	M	0.71206	2.165	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;0.999;0.998;1.0;1.0;0.998	D;D;D;D;D;D	0.87578	0.997;0.994;0.973;0.998;0.998;0.973	D	0.86889	0.2047	10	0.72032	D	0.01	.	18.6977	0.91607	0.0:0.0:1.0:0.0	.	337;427;427;435;435;435	B7Z7U4;E9PG56;B7Z4C5;Q96CY4;Q16288-3;Q16288	.;.;.;.;.;NTRK3_HUMAN	E	435;435;427;435;337;435;435	ENSP00000377990:A435E;ENSP00000354207:A435E;ENSP00000350356:A427E;ENSP00000347397:A435E;ENSP00000437773:A337E;ENSP00000444673:A435E;ENSP00000318328:A435E	ENSP00000318328:A435E	A	-	2	0	NTRK3	86470598	1.000000	0.71417	0.897000	0.35233	0.125000	0.20455	9.510000	0.98004	2.652000	0.90054	0.655000	0.94253	GCA		PASS	0.443	NTRK3-204	KNOWN	basic|CCDS	protein_coding	protein_coding				49	58	49	58	---	---	---	---
NTRK3	4916	broad.mit.edu	37	15	88679775	88679775	+	Missense_Mutation	SNP	T	T	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr15:88679775T>A	ENST00000360948.2	-	7	849	c.688A>T	c.(688-690)Act>Tct	p.T230S	NTRK3_ENST00000557856.1_Missense_Mutation_p.T230S|NTRK3_ENST00000542733.2_Missense_Mutation_p.T132S|NTRK3_ENST00000394480.2_Missense_Mutation_p.T230S|NTRK3_ENST00000540489.2_Missense_Mutation_p.T230S|NTRK3_ENST00000355254.2_Missense_Mutation_p.T230S|NTRK3_ENST00000357724.2_Missense_Mutation_p.T230S|NTRK3_ENST00000558676.1_Missense_Mutation_p.T230S|NTRK3_ENST00000317501.3_Missense_Mutation_p.T230S	NM_001012338.2	NP_001012338.1	Q16288	NTRK3_HUMAN	neurotrophic tyrosine kinase, receptor, type 3	230	Ig-like C2-type 1.				activation of MAPK activity (GO:0000187)|activation of protein kinase B activity (GO:0032148)|activation of Ras GTPase activity (GO:0032856)|cellular response to retinoic acid (GO:0071300)|circadian rhythm (GO:0007623)|cochlea development (GO:0090102)|lens fiber cell differentiation (GO:0070306)|mechanoreceptor differentiation (GO:0042490)|modulation by virus of host transcription (GO:0019056)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of cell death (GO:0060548)|negative regulation of protein phosphorylation (GO:0001933)|neuron fate specification (GO:0048665)|neuron migration (GO:0001764)|neurotrophin signaling pathway (GO:0038179)|positive regulation of actin cytoskeleton reorganization (GO:2000251)|positive regulation of axon extension involved in regeneration (GO:0048691)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of positive chemotaxis (GO:0050927)|protein autophosphorylation (GO:0046777)|response to axon injury (GO:0048678)|response to corticosterone (GO:0051412)|response to ethanol (GO:0045471)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|neurotrophin binding (GO:0043121)|neurotrophin receptor activity (GO:0005030)|p53 binding (GO:0002039)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)	p.T230S(3)	ETV6/NTRK3(238)	breast(3)|central_nervous_system(3)|endometrium(6)|kidney(1)|large_intestine(22)|lung(63)|ovary(6)|pancreas(3)|prostate(1)|skin(4)|stomach(5)|upper_aerodigestive_tract(2)	119			BRCA - Breast invasive adenocarcinoma(143;0.211)			CCATTGCAAGTGATAACAGCG	0.557			T	ETV6	"""congenital fibrosarcoma, Secretory breast """					TSP Lung(13;0.10)																												uc002bme.1				Dom	yes		15	15q25	4916	T	"""neurotrophic tyrosine kinase, receptor, type 3"""			"""E, M"""	ETV6		congenital fibrosarcoma|Secretory breast 	ETV6/NTRK3(234)	3	Substitution - Missense(3)		lung(3)	soft_tissue(85)|kidney(66)|breast(56)|salivary_gland(26)|lung(22)|large_intestine(6)|ovary(6)|stomach(5)|central_nervous_system(3)|pancreas(3)|haematopoietic_and_lymphoid_tissue(2)|skin(1)	281						c.(688-690)ACT>TCT		neurotrophic tyrosine kinase, receptor, type 3							173.0	104.0	127.0					15																	88679775		2201	4299	6500	SO:0001583	missense	4916				transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity	g.chr15:88679775T>A	U05012	CCDS10340.1, CCDS32322.1, CCDS32323.1, CCDS58399.1	15q24-q25	2013-01-11			ENSG00000140538	ENSG00000140538	2.7.10.1	"""Immunoglobulin superfamily / I-set domain containing"""	8033	protein-coding gene	gene with protein product		191316				7806211	Standard	NM_001012338		Approved	TRKC	uc002bme.2	Q16288	OTTHUMG00000148677	ENST00000360948.2:c.688A>T	15.37:g.88679775T>A	ENSP00000354207:p.Thr230Ser	TSP Lung(13;0.10)				NTRK3_uc002bmh.2_Missense_Mutation_p.T230S|NTRK3_uc002bmf.1_Missense_Mutation_p.T230S|NTRK3_uc010upl.1_Missense_Mutation_p.T132S|NTRK3_uc010bnh.1_Missense_Mutation_p.T230S|NTRK3_uc002bmg.2_Missense_Mutation_p.T230S	p.T230S	NM_001012338	NP_001012338	Q16288	NTRK3_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.211)		7	850	-			230			Ig-like C2-type 1.|Extracellular (Potential).		B7Z4C5|E9PG56|H0YND1|O75682|Q12827|Q16289	Missense_Mutation	SNP	ENST00000360948.2	37	c.688A>T	CCDS32322.1	.	.	.	.	.	.	.	.	.	.	T	14.59	2.582032	0.46006	.	.	ENSG00000140538	ENST00000394480;ENST00000360948;ENST00000357724;ENST00000355254;ENST00000542733;ENST00000540489;ENST00000317501	T;T;T;T;T;T;T	0.67171	-0.25;-0.25;-0.25;-0.25;-0.25;-0.25;-0.25	5.64	5.64	0.86602	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin (1);Immunoglobulin-like fold (1);	0.047137	0.85682	D	0.000000	T	0.54481	0.1861	N	0.19112	0.55	0.49582	D	0.999803	B;B;B;B;B;B	0.31519	0.028;0.022;0.002;0.327;0.01;0.002	B;B;B;B;B;B	0.37346	0.052;0.008;0.01;0.247;0.007;0.01	T	0.51718	-0.8670	10	0.15066	T	0.55	.	15.0376	0.71761	0.0:0.0:0.0:1.0	.	132;230;230;230;230;230	B7Z7U4;E9PG56;B7Z4C5;Q96CY4;Q16288-3;Q16288	.;.;.;.;.;NTRK3_HUMAN	S	230;230;230;230;132;230;230	ENSP00000377990:T230S;ENSP00000354207:T230S;ENSP00000350356:T230S;ENSP00000347397:T230S;ENSP00000437773:T132S;ENSP00000444673:T230S;ENSP00000318328:T230S	ENSP00000318328:T230S	T	-	1	0	NTRK3	86480779	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	7.535000	0.82014	2.147000	0.66899	0.533000	0.62120	ACT		PASS	0.557	NTRK3-204	KNOWN	basic|CCDS	protein_coding	protein_coding				21	43	21	43	---	---	---	---
WDR93	56964	broad.mit.edu	37	15	90258209	90258209	+	Splice_Site	SNP	A	A	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr15:90258209A>T	ENST00000268130.7	+	6	741		c.e6-1		WDR93_ENST00000560294.1_Splice_Site|RNU6-132P_ENST00000383863.1_RNA	NM_020212.1	NP_064597.1	Q6P2C0	WDR93_HUMAN	WD repeat domain 93						electron transport chain (GO:0022900)		oxidoreductase activity, acting on NAD(P)H (GO:0016651)	p.?(1)		NS(1)|breast(3)|endometrium(2)|kidney(4)|large_intestine(5)|liver(2)|lung(8)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	33	Lung NSC(78;0.0237)|all_lung(78;0.0478)		KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|BRCA - Breast invasive adenocarcinoma(143;0.128)			TTCCCAATGCAGGAGCCGGAG	0.458																																						uc002boj.2																			1	Unknown(1)		lung(1)	ovary(2)	2						c.e6-2		WD repeat domain 93							60.0	56.0	57.0					15																	90258209		2200	4299	6499	SO:0001630	splice_region_variant	56964				electron transport chain	mitochondrial inner membrane	oxidoreductase activity, acting on NADH or NADPH	g.chr15:90258209A>T		CCDS32326.1, CCDS66862.1, CCDS73779.1	15q26.1	2012-11-02						"""WD repeat domain containing"""	26924	protein-coding gene	gene with protein product							Standard	NM_020212		Approved		uc002boj.3	Q6P2C0		ENST00000268130.7:c.641-1A>T	15.37:g.90258209A>T						WDR93_uc010bnr.2_Splice_Site_p.G214_splice	p.G214_splice	NM_020212	NP_064597	Q6P2C0	WDR93_HUMAN	KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|BRCA - Breast invasive adenocarcinoma(143;0.128)		6	742	+	Lung NSC(78;0.0237)|all_lung(78;0.0478)							Q8N7Y8|Q9NP89	Splice_Site	SNP	ENST00000268130.7	37	c.641_splice	CCDS32326.1	.	.	.	.	.	.	.	.	.	.	A	19.53	3.844123	0.71488	.	.	ENSG00000140527	ENST00000268130	.	.	.	5.44	5.44	0.79542	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.8778	0.52558	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	WDR93	88059213	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.561000	0.60809	2.056000	0.61249	0.459000	0.35465	.		PASS	0.458	WDR93-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000416369.1	NM_020212	Intron	5	31	5	31	---	---	---	---
CRTC3	64784	broad.mit.edu	37	15	91185216	91185216	+	Silent	SNP	G	G	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr15:91185216G>A	ENST00000268184.6	+	15	1708	c.1704G>A	c.(1702-1704)ctG>ctA	p.L568L	RP11-387D10.2_ENST00000559531.1_RNA|CRTC3_ENST00000420329.2_Silent_p.L567L			Q6UUV7	CRTC3_HUMAN	CREB regulated transcription coactivator 3	568					energy homeostasis (GO:0097009)|negative regulation of cAMP-mediated signaling (GO:0043951)|negative regulation of lipid catabolic process (GO:0050995)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein homotetramerization (GO:0051289)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	cAMP response element binding protein binding (GO:0008140)	p.L568L(1)	CRTC3/MAML2(26)	breast(1)|endometrium(4)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)|urinary_tract(1)	20	Melanoma(11;0.00551)|Lung NSC(78;0.0931)|all_lung(78;0.163)		BRCA - Breast invasive adenocarcinoma(143;0.0745)			TGGCAGGCCTGCCTGAGGTCA	0.562			T	MAML2	salivary gland mucoepidermoid																																	uc002bpp.2				Dom	yes		15	15q26.1	64784	T	CREB regulated transcription coactivator 3			E	MAML2		salivary gland mucoepidermoid	CRTC3/MAML2(26)	1	Substitution - coding silent(1)		lung(1)	salivary_gland(26)|ovary(1)	27						c.(1702-1704)CTG>CTA		transducer of regulated CREB protein 3 isoform							73.0	66.0	69.0					15																	91185216		2198	4298	6496	SO:0001819	synonymous_variant	64784				interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus		g.chr15:91185216G>A		CCDS32331.1, CCDS45348.1	15q26.1	2005-11-24				ENSG00000140577			26148	protein-coding gene	gene with protein product		608986				14536081, 14506290	Standard	NM_022769		Approved	FLJ21868	uc002bpp.4	Q6UUV7		ENST00000268184.6:c.1704G>A	15.37:g.91185216G>A						CRTC3_uc002bpo.2_Silent_p.L567L	p.L568L	NM_022769	NP_073606	Q6UUV7	CRTC3_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.0745)		15	1810	+	Melanoma(11;0.00551)|Lung NSC(78;0.0931)|all_lung(78;0.163)		568					Q6DK61|Q6DK62|Q8NF38|Q9H6U2	Silent	SNP	ENST00000268184.6	37	c.1704G>A	CCDS32331.1																																																																																				PASS	0.562	CRTC3-001	KNOWN	NAGNAG_splice_site|non_canonical_U12|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417716.2	NM_022769		45	75	45	75	---	---	---	---
CHD2	1106	broad.mit.edu	37	15	93480847	93480847	+	Silent	SNP	C	C	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr15:93480847C>A	ENST00000394196.4	+	6	1611	c.543C>A	c.(541-543)gtC>gtA	p.V181V	CHD2_ENST00000420239.2_Silent_p.V181V|CHD2_ENST00000536619.1_Silent_p.V194V|CHD2_ENST00000557381.1_Silent_p.V181V	NM_001271.3	NP_001262.3	O14647	CHD2_HUMAN	chromodomain helicase DNA binding protein 2	181					cellular response to DNA damage stimulus (GO:0006974)|chromatin modification (GO:0016568)|DNA duplex unwinding (GO:0032508)|hematopoietic stem cell differentiation (GO:0060218)|muscle organ development (GO:0007517)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|core promoter sequence-specific DNA binding (GO:0001046)|DNA binding (GO:0003677)|histone binding (GO:0042393)|poly(A) RNA binding (GO:0044822)	p.V181V(2)		breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(10)|lung(17)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	47	Lung NSC(78;0.00976)|all_lung(78;0.016)		BRCA - Breast invasive adenocarcinoma(143;0.0282)|OV - Ovarian serous cystadenocarcinoma(32;0.0814)			GAAGACCTGTCCCCAGAAGGT	0.438																																						uc002bsp.2																			2	Substitution - coding silent(2)		lung(2)	ovary(1)|skin(1)	2						c.(541-543)GTC>GTA		chromodomain helicase DNA binding protein 2							106.0	101.0	103.0					15																	93480847		2197	4298	6495	SO:0001819	synonymous_variant	1106				regulation of transcription from RNA polymerase II promoter	nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding	g.chr15:93480847C>A	AF006514	CCDS10374.2, CCDS45356.1	15q26	2008-07-18			ENSG00000173575	ENSG00000173575			1917	protein-coding gene	gene with protein product		602119				9326634	Standard	NM_001042572		Approved	FLJ38614, DKFZp547I1315, DKFZp781D1727, DKFZp686E01200	uc002bsp.3	O14647	OTTHUMG00000149845	ENST00000394196.4:c.543C>A	15.37:g.93480847C>A						CHD2_uc002bsm.1_Silent_p.V181V|CHD2_uc002bsn.2_Silent_p.V181V|CHD2_uc002bso.1_Silent_p.V181V|CHD2_uc010urb.1_Silent_p.V194V	p.V181V	NM_001271	NP_001262	O14647	CHD2_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.0282)|OV - Ovarian serous cystadenocarcinoma(32;0.0814)		6	1118	+	Lung NSC(78;0.00976)|all_lung(78;0.016)		181					C6G482|Q96IP5	Silent	SNP	ENST00000394196.4	37	c.543C>A	CCDS10374.2																																																																																				PASS	0.438	CHD2-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000313528.3	NM_001271		7	35	7	35	---	---	---	---
MCTP2	55784	broad.mit.edu	37	15	94913349	94913349	+	Missense_Mutation	SNP	G	G	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr15:94913349G>T	ENST00000357742.4	+	11	1522	c.1522G>T	c.(1522-1524)Gtc>Ttc	p.V508F	MCTP2_ENST00000331706.4_Missense_Mutation_p.V96F|MCTP2_ENST00000557742.1_Missense_Mutation_p.V96F|MCTP2_ENST00000451018.3_Missense_Mutation_p.V508F	NM_018349.3	NP_060819.3	Q6DN12	MCTP2_HUMAN	multiple C2 domains, transmembrane 2	508	C2 3. {ECO:0000255|PROSITE- ProRule:PRU00041}.				calcium-mediated signaling (GO:0019722)	integral component of membrane (GO:0016021)|membrane (GO:0016020)	calcium ion binding (GO:0005509)	p.V508F(1)		autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|liver(1)|lung(12)|ovary(1)|pancreas(1)|skin(9)|stomach(2)	49	Lung NSC(78;0.0821)|all_lung(78;0.148)		BRCA - Breast invasive adenocarcinoma(143;0.0323)|OV - Ovarian serous cystadenocarcinoma(32;0.0593)			TGTGAAAGACGTCGGCATTCT	0.358																																						uc002btj.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|pancreas(1)|skin(1)	3						c.(1522-1524)GTC>TTC		multiple C2 domains, transmembrane 2 isoform 1							93.0	91.0	92.0					15																	94913349		2197	4298	6495	SO:0001583	missense	55784				calcium-mediated signaling	integral to membrane|membrane fraction	calcium ion binding	g.chr15:94913349G>T	AK002037	CCDS32338.1, CCDS53975.1, CCDS53976.1	15q26.2	2006-02-08				ENSG00000140563			25636	protein-coding gene	gene with protein product						15528213	Standard	NM_018349		Approved	FLJ11175, FLJ33303	uc002btj.3	Q6DN12		ENST00000357742.4:c.1522G>T	15.37:g.94913349G>T	ENSP00000350377:p.Val508Phe					MCTP2_uc002bti.2_Missense_Mutation_p.V508F|MCTP2_uc010boj.2_Missense_Mutation_p.V237F|MCTP2_uc010bok.2_Missense_Mutation_p.V508F|MCTP2_uc002btk.3_Missense_Mutation_p.V96F|MCTP2_uc002btl.2_Missense_Mutation_p.V96F	p.V508F	NM_018349	NP_060819	Q6DN12	MCTP2_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.0323)|OV - Ovarian serous cystadenocarcinoma(32;0.0593)		11	1587	+	Lung NSC(78;0.0821)|all_lung(78;0.148)		508			C2 3.		A2RRC2|C6G483|C6G484|Q49AB0|Q8TAX2|Q9NUS2|Q9NUW7	Missense_Mutation	SNP	ENST00000357742.4	37	c.1522G>T	CCDS32338.1	.	.	.	.	.	.	.	.	.	.	G	11.87	1.768524	0.31320	.	.	ENSG00000140563	ENST00000451018;ENST00000331706;ENST00000357742	T;T;T	0.70516	-0.49;-0.32;-0.33	5.98	-0.997	0.10215	.	0.331638	0.35838	N	0.002942	T	0.78553	0.4301	M	0.73962	2.25	0.28054	N	0.933269	B;D;P	0.57899	0.196;0.981;0.765	B;P;P	0.59643	0.336;0.861;0.617	T	0.75863	-0.3167	10	0.87932	D	0	.	13.2632	0.60117	0.5861:0.0:0.4139:0.0	.	508;96;508	Q6DN12-2;Q6DN12-4;Q6DN12	.;.;MCTP2_HUMAN	F	508;96;508	ENSP00000395109:V508F;ENSP00000329646:V96F;ENSP00000350377:V508F	ENSP00000329646:V96F	V	+	1	0	MCTP2	92714353	0.079000	0.21365	0.082000	0.20525	0.076000	0.17211	0.261000	0.18442	-0.145000	0.11294	-0.133000	0.14855	GTC		PASS	0.358	MCTP2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415060.3	NM_018349		35	49	35	49	---	---	---	---
LRRC28	123355	broad.mit.edu	37	15	99926293	99926293	+	Missense_Mutation	SNP	G	G	C			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr15:99926293G>C	ENST00000301981.3	+	10	1330	c.1090G>C	c.(1090-1092)Gac>Cac	p.D364H	LRRC28_ENST00000447360.2_Missense_Mutation_p.L310F|LRRC28_ENST00000558879.1_3'UTR|LRRC28_ENST00000422500.2_Missense_Mutation_p.D295H|LRRC28_ENST00000331450.5_Missense_Mutation_p.D90H	NM_144598.2	NP_653199.2	Q86X40	LRC28_HUMAN	leucine rich repeat containing 28	364								p.D364H(1)		endometrium(2)|large_intestine(3)|lung(6)|prostate(1)	12	Lung NSC(78;0.00175)|all_lung(78;0.00351)|Melanoma(26;0.00778)|Medulloblastoma(229;0.163)		OV - Ovarian serous cystadenocarcinoma(32;0.00106)			GCAGACTTTTGACCTGCTGAG	0.517																																						uc002bva.1																			1	Substitution - Missense(1)		lung(1)		0						c.(1090-1092)GAC>CAC		leucine rich repeat containing 28							269.0	269.0	269.0					15																	99926293		2197	4297	6494	SO:0001583	missense	123355							g.chr15:99926293G>C	AK091588	CCDS10380.1, CCDS66873.1	15q26.3	2004-06-29			ENSG00000168904	ENSG00000168904			28355	protein-coding gene	gene with protein product						12975309	Standard	XM_005254861		Approved	MGC24976, FLJ34269, FLJ45242	uc002bva.1	Q86X40	OTTHUMG00000149854	ENST00000301981.3:c.1090G>C	15.37:g.99926293G>C	ENSP00000304923:p.Asp364His					LRRC28_uc002bvb.1_Missense_Mutation_p.D210H|LRRC28_uc010urt.1_Missense_Mutation_p.D178H|LRRC28_uc002bvc.1_Missense_Mutation_p.L310F|LRRC28_uc010uru.1_Missense_Mutation_p.D295H|LRRC28_uc002bvd.1_Missense_Mutation_p.D90H	p.D364H	NM_144598	NP_653199	Q86X40	LRC28_HUMAN	OV - Ovarian serous cystadenocarcinoma(32;0.00106)		10	1245	+	Lung NSC(78;0.00175)|all_lung(78;0.00351)|Melanoma(26;0.00778)|Medulloblastoma(229;0.163)		364					A8KA22|Q6UY49|Q6ZSS6	Missense_Mutation	SNP	ENST00000301981.3	37	c.1090G>C	CCDS10380.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	19.03|19.03	3.748559|3.748559	0.69533|0.69533	.|.	.|.	ENSG00000168904|ENSG00000168904	ENST00000301981;ENST00000422500;ENST00000331450|ENST00000447360	T;T;T|T	0.56941|0.56611	0.76;1.2;0.43|0.45	5.81|5.81	3.88|3.88	0.44766|0.44766	.|.	0.127244|.	0.64402|.	N|.	0.000001|.	T|T	0.64249|0.64249	0.2581|0.2581	L|L	0.50333|0.50333	1.59|1.59	0.80722|0.80722	D|D	1|1	B;B;B|D	0.27380|0.89917	0.177;0.0;0.0|1.0	B;B;B|D	0.25140|0.85130	0.058;0.003;0.001|0.997	T|T	0.64262|0.64262	-0.6449|-0.6449	10|9	0.62326|0.72032	D|D	0.03|0.01	.|.	10.0529|10.0529	0.42228|0.42228	0.0754:0.1386:0.786:0.0|0.0754:0.1386:0.786:0.0	.|.	295;90;364|310	B4DHL3;Q8WUS2;Q86X40|Q86X40-2	.;.;LRC28_HUMAN|.	H|F	364;295;90|310	ENSP00000304923:D364H;ENSP00000398606:D295H;ENSP00000332035:D90H|ENSP00000404520:L310F	ENSP00000304923:D364H|ENSP00000404520:L310F	D|L	+|+	1|3	0|2	LRRC28|LRRC28	97743816|97743816	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	4.301000|4.301000	0.59086|0.59086	0.742000|0.742000	0.32697|0.32697	0.655000|0.655000	0.94253|0.94253	GAC|TTG		PASS	0.517	LRRC28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313546.1	NM_144598		210	322	210	322	---	---	---	---
DNM1P46	196968	broad.mit.edu	37	15	100332063	100332063	+	RNA	SNP	G	G	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr15:100332063G>A	ENST00000341853.1	-	0	2128				AC090825.1_ENST00000408584.1_RNA|RN7SL484P_ENST00000462651.2_RNA	NR_003260.1		Q6ZS02	DMP46_HUMAN	DNM1 pseudogene 46							microtubule (GO:0005874)	GTPase activity (GO:0003924)										CGTTCGTTCTGTGTATGCCCC	0.562																																						uc010urx.1																			0					0								Homo sapiens cDNA FLJ43799 fis, clone TESTI4000288.							56.0	54.0	55.0					15																	100332063		876	1991	2867			196968							g.chr15:100332063G>A	AJ576275		15q26.3	2013-04-25			ENSG00000182397	ENSG00000182397			35199	pseudogene	pseudogene			"""chromosome 15 open reading frame 51"""	DNM1DN14@, C15orf51			Standard	NR_003260		Approved	DNM1DN14.2, FLJ45937, DKFZp434I1020	uc021sxl.1	Q6ZS02	OTTHUMG00000149852		15.37:g.100332063G>A						C15orf51_uc010ury.1_RNA		NR_003260						5		-								Q3ZCN3	RNA	SNP	ENST00000341853.1	37	c.2129C>T																																																																																					PASS	0.562	DNM1P46-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000313543.1	NR_003260		11	51	11	51	---	---	---	---
LRRK1	79705	broad.mit.edu	37	15	101554532	101554532	+	Silent	SNP	C	C	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr15:101554532C>T	ENST00000388948.3	+	11	1790	c.1431C>T	c.(1429-1431)ttC>ttT	p.F477F	LRRK1_ENST00000284395.5_Silent_p.F474F	NM_024652.3	NP_078928.3			leucine-rich repeat kinase 1									p.F450F(1)|p.F477F(1)		breast(2)|central_nervous_system(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(25)|ovary(4)|prostate(1)|skin(1)	72	Melanoma(26;0.00505)|Lung NSC(78;0.00793)|all_lung(78;0.0094)		OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			CCCTCATGTTCTTGAGGTTAC	0.537																																						uc002bwr.2																			2	Substitution - coding silent(2)		lung(2)	ovary(4)|lung(4)|central_nervous_system(3)|large_intestine(1)	12						c.(1429-1431)TTC>TTT		leucine-rich repeat kinase 1							86.0	91.0	89.0					15																	101554532		1921	4122	6043	SO:0001819	synonymous_variant	79705				small GTPase mediated signal transduction	mitochondrion	ATP binding|GTP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	g.chr15:101554532C>T	AB058693	CCDS42086.1	15q26.3	2007-01-29			ENSG00000154237	ENSG00000154237			18608	protein-coding gene	gene with protein product		610986				11347906, 14654223	Standard	XM_005254979		Approved	FLJ23119, KIAA1790, Roco1, RIPK6	uc002bwr.3	Q38SD2	OTTHUMG00000165514	ENST00000388948.3:c.1431C>T	15.37:g.101554532C>T						LRRK1_uc010usb.1_RNA|LRRK1_uc010usc.1_RNA	p.F477F	NM_024652	NP_078928	Q38SD2	LRRK1_HUMAN	OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)		11	1750	+	Melanoma(26;0.00505)|Lung NSC(78;0.00793)|all_lung(78;0.0094)		477			LRR 9.			Silent	SNP	ENST00000388948.3	37	c.1431C>T	CCDS42086.1																																																																																				PASS	0.537	LRRK1-003	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384567.2	NM_024652		107	152	107	152	---	---	---	---
WDR90	197335	broad.mit.edu	37	16	705883	705883	+	Missense_Mutation	SNP	G	G	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr16:705883G>A	ENST00000293879.4	+	17	1960	c.1960G>A	c.(1960-1962)Gag>Aag	p.E654K	LA16c-349E10.1_ENST00000573609.1_RNA|WDR90_ENST00000549091.1_Missense_Mutation_p.E654K			Q96KV7	WDR90_HUMAN	WD repeat domain 90	654								p.E654K(1)		endometrium(4)|kidney(3)|large_intestine(2)|lung(22)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	37		Hepatocellular(780;0.0218)				GGTGCTCCTGGAGGCAGGTGA	0.687																																						uc002cii.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1960-1962)GAG>AAG		WD repeat domain 90							26.0	29.0	28.0					16																	705883		2138	4246	6384	SO:0001583	missense	197335							g.chr16:705883G>A	AB067511	CCDS42092.1	16p13.3	2013-01-09			ENSG00000161996	ENSG00000161996		"""WD repeat domain containing"""	26960	protein-coding gene	gene with protein product			"""chromosome 16 open reading frame 17"", ""chromosome 16 open reading frame 15"", ""chromosome 16 open reading frame 16"", ""chromosome 16 open reading frame 19"", ""chromosome 16 open reading frame 18"""	C16orf17, C16orf15, C16orf16, C16orf19, C16orf18		11572484, 11157797	Standard	XM_005255160		Approved	FLJ36483, KIAA1924	uc002cii.1	Q96KV7	OTTHUMG00000048040	ENST00000293879.4:c.1960G>A	16.37:g.705883G>A	ENSP00000293879:p.Glu654Lys					WDR90_uc002cig.1_Missense_Mutation_p.E654K|WDR90_uc002cih.1_Missense_Mutation_p.E655K|WDR90_uc002cij.1_Intron|WDR90_uc002cik.1_Missense_Mutation_p.E181K|WDR90_uc002cil.1_5'Flank|WDR90_uc002cim.1_5'Flank	p.E654K	NM_145294	NP_660337	Q96KV7	WDR90_HUMAN			17	2014	+		Hepatocellular(780;0.0218)	654			WD 4.		Q0VA87|Q0VA88|Q6P048|Q6ZMS1|Q6ZTH1|Q8N202|Q8N221|Q8NBB8|Q96PW4|Q96S18	Missense_Mutation	SNP	ENST00000293879.4	37	c.1960G>A	CCDS42092.1	.	.	.	.	.	.	.	.	.	.	G	22.4	4.279495	0.80692	.	.	ENSG00000161996	ENST00000549091;ENST00000293879	T;T	0.01265	5.08;5.08	4.74	4.74	0.60224	WD40/YVTN repeat-like-containing domain (1);Quinonprotein alcohol dehydrogenase-like (1);WD40-repeat-containing domain (1);	0.000000	0.64402	U	0.000001	T	0.10035	0.0246	M	0.87617	2.895	0.80722	D	1	D;D;D;D	0.89917	0.998;1.0;1.0;1.0	D;D;D;D	0.91635	0.969;0.999;0.996;0.998	T	0.20706	-1.0267	10	0.28530	T	0.3	.	17.1012	0.86651	0.0:0.0:1.0:0.0	.	654;654;655;654	F8VUX9;Q96KV7;C9JMK1;Q96KV7-3	.;WDR90_HUMAN;.;.	K	654	ENSP00000448122:E654K;ENSP00000293879:E654K	ENSP00000293879:E654K	E	+	1	0	WDR90	645884	1.000000	0.71417	0.992000	0.48379	0.241000	0.25554	7.470000	0.80973	2.345000	0.79718	0.655000	0.94253	GAG		PASS	0.687	WDR90-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000404335.1	NM_145294		3	7	3	7	---	---	---	---
GNPTG	84572	broad.mit.edu	37	16	1400989	1400989	+	5'Flank	SNP	C	C	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr16:1400989C>T	ENST00000204679.4	+	0	0				TSR3_ENST00000007390.2_Silent_p.A115A	NM_032520.4	NP_115909.1	Q9UJJ9	GNPTG_HUMAN	N-acetylglucosamine-1-phosphate transferase, gamma subunit						carbohydrate phosphorylation (GO:0046835)|N-glycan processing to lysosome (GO:0016256)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)	protein homodimerization activity (GO:0042803)	p.A115A(1)		breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)	7		Hepatocellular(780;0.0893)				CCCCAGACTGCGCCACCAGCT	0.622																																						uc002cll.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(343-345)GCG>GCA		hypothetical protein LOC115939							38.0	39.0	39.0					16																	1400989		2198	4298	6496	SO:0001631	upstream_gene_variant	115939				rRNA processing			g.chr16:1400989C>T	BC014592	CCDS10436.1	16p13.3	2009-04-17		2004-10-01	ENSG00000090581	ENSG00000090581			23026	protein-coding gene	gene with protein product	"""GlcNAc-phosphotransferase gamma-subunit"""	607838	"""N-acetylglucosamine-1-phosphotransferase, gamma subunit"", ""chromosome 16 open reading frame 27"""	GNPTAG, C16orf27		10712439	Standard	NM_032520		Approved	CAB56184, c316G12.3	uc002clm.3	Q9UJJ9	OTTHUMG00000047835		16.37:g.1400989C>T	Exception_encountered					GNPTG_uc002clm.2_5'Flank	p.A115A	NM_001001410	NP_001001410	Q9UJK0	TSR3_HUMAN			3	413	-		Hepatocellular(780;0.0893)	115					B2R556|Q6XYD7|Q96L13	Silent	SNP	ENST00000204679.4	37	c.345G>A	CCDS10436.1																																																																																				PASS	0.622	GNPTG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109058.2	NM_032520		27	19	27	19	---	---	---	---
CORO7	79585	broad.mit.edu	37	16	4415025	4415025	+	Nonsense_Mutation	SNP	G	G	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr16:4415025G>A	ENST00000251166.4	-	11	1022	c.877C>T	c.(877-879)Cag>Tag	p.Q293*	CORO7_ENST00000537233.2_Nonsense_Mutation_p.Q275*|CORO7_ENST00000574025.1_Nonsense_Mutation_p.Q208*|CORO7_ENST00000539968.1_Nonsense_Mutation_p.Q73*|CORO7-PAM16_ENST00000572467.1_Nonsense_Mutation_p.Q293*|CORO7_ENST00000423908.2_Nonsense_Mutation_p.Q125*	NM_024535.4	NP_078811.3	P57737	CORO7_HUMAN	coronin 7	293					actin filament polymerization (GO:0030041)|Golgi to endosome transport (GO:0006895)|protein transport (GO:0015031)	cytoplasmic vesicle (GO:0031410)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|trans-Golgi network (GO:0005802)	actin binding (GO:0003779)	p.Q293*(1)		breast(3)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(8)|prostate(2)|skin(2)|urinary_tract(2)	23						GCCGGCTGCTGCGGGACCACC	0.642																																						uc002cwh.3																			1	Substitution - Nonsense(1)		lung(1)		0						c.(877-879)CAG>TAG		coronin 7							34.0	30.0	32.0					16																	4415025		2192	4298	6490	SO:0001587	stop_gained	79585					cytoplasmic membrane-bounded vesicle|cytosol|Golgi membrane|integral to membrane of membrane fraction|soluble fraction		g.chr16:4415025G>A	AK097238	CCDS10513.1, CCDS55982.1, CCDS58417.1	16p13.3	2013-01-10			ENSG00000262246	ENSG00000262246		"""Coronins"", ""WD repeat domain containing"""	26161	protein-coding gene	gene with protein product		611668				15327992	Standard	NM_024535		Approved	FLJ22021		P57737	OTTHUMG00000129465	ENST00000251166.4:c.877C>T	16.37:g.4415025G>A	ENSP00000251166:p.Gln293*					CORO7_uc002cwe.2_RNA|CORO7_uc002cwf.2_Nonsense_Mutation_p.Q293*|CORO7_uc002cwg.3_Nonsense_Mutation_p.Q73*|CORO7_uc010uxh.1_Nonsense_Mutation_p.Q275*|CORO7_uc010uxi.1_Nonsense_Mutation_p.Q208*|CORO7_uc002cwi.1_Nonsense_Mutation_p.Q73*|CORO7_uc010uxj.1_RNA|CORO7_uc010btp.1_Nonsense_Mutation_p.Q73*	p.Q293*	NM_024535	NP_078811	P57737	CORO7_HUMAN			11	997	-			293					B4DFD6|B4DL18|I3L416|Q17RK4	Nonsense_Mutation	SNP	ENST00000251166.4	37	c.877C>T	CCDS10513.1	.	.	.	.	.	.	.	.	.	.	G	41	8.900816	0.98996	.	.	ENSG00000103426	ENST00000251166;ENST00000537233;ENST00000539968;ENST00000423908	.	.	.	5.5	3.42	0.39159	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.39692	T	0.17	-2.0814	9.2872	0.37764	0.0:0.3628:0.4947:0.1425	.	.	.	.	X	293;208;73;125	.	ENSP00000251166:Q293X	Q	-	1	0	CORO7	4355026	0.000000	0.05858	0.724000	0.30704	0.882000	0.50991	-0.069000	0.11542	1.322000	0.45245	0.462000	0.41574	CAG		PASS	0.642	CORO7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251628.2	NM_024535		5	5	5	5	---	---	---	---
ZNF500	26048	broad.mit.edu	37	16	4815616	4815616	+	Missense_Mutation	SNP	C	C	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr16:4815616C>A	ENST00000219478.6	-	2	663	c.364G>T	c.(364-366)Gtg>Ttg	p.V122L	ZNF500_ENST00000545009.1_Missense_Mutation_p.V122L			O60304	ZN500_HUMAN	zinc finger protein 500	122	SCAN box. {ECO:0000255|PROSITE- ProRule:PRU00187}.				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.V122L(1)		endometrium(3)|large_intestine(3)|lung(7)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	21						ACAAGGACCACGGCCTCCTCA	0.652																																						uc002cxp.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(1)	3						c.(364-366)GTG>TTG		zinc finger protein 500							45.0	45.0	45.0					16																	4815616		2197	4300	6497	SO:0001583	missense	26048				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr16:4815616C>A	AB011129	CCDS32383.1	16p13.3	2013-01-09				ENSG00000103199		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	23716	protein-coding gene	gene with protein product						9628581	Standard	XM_005255243		Approved	ZKSCAN18, KIAA0557, ZSCAN50	uc002cxp.1	O60304		ENST00000219478.6:c.364G>T	16.37:g.4815616C>A	ENSP00000219478:p.Val122Leu					ZNF500_uc002cxo.1_5'UTR|ZNF500_uc010uxt.1_Missense_Mutation_p.V122L	p.V122L	NM_021646	NP_067678	O60304	ZN500_HUMAN			2	611	-			122			SCAN box.		A8K6X7|B4DNN9|Q0VAL2|Q96CQ8|Q9BTG0	Missense_Mutation	SNP	ENST00000219478.6	37	c.364G>T	CCDS32383.1	.	.	.	.	.	.	.	.	.	.	C	23.9	4.467856	0.84533	.	.	ENSG00000103199	ENST00000545009;ENST00000219478	T;T	0.05855	3.38;3.38	4.16	4.16	0.48862	Retrovirus capsid, C-terminal (1);Transcription regulator SCAN (3);	.	.	.	.	T	0.24084	0.0583	M	0.87617	2.895	0.23620	N	0.997272	D;D	0.55800	0.973;0.973	P;P	0.58077	0.832;0.832	T	0.05115	-1.0905	9	0.66056	D	0.02	.	11.9611	0.53009	0.0:1.0:0.0:0.0	.	122;122	B4DNN9;O60304	.;ZN500_HUMAN	L	122	ENSP00000445714:V122L;ENSP00000219478:V122L	ENSP00000219478:V122L	V	-	1	0	ZNF500	4755617	0.992000	0.36948	1.000000	0.80357	0.999000	0.98932	1.808000	0.38912	1.887000	0.54652	0.655000	0.94253	GTG		PASS	0.652	ZNF500-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432461.1	XM_085507		59	34	59	34	---	---	---	---
SLC5A11	115584	broad.mit.edu	37	16	24902286	24902286	+	Missense_Mutation	SNP	G	G	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr16:24902286G>T	ENST00000347898.3	+	9	1383	c.761G>T	c.(760-762)cGg>cTg	p.R254L	SLC5A11_ENST00000569071.1_Intron|SLC5A11_ENST00000565769.1_Missense_Mutation_p.R190L|SLC5A11_ENST00000568579.1_Missense_Mutation_p.R184L|SLC5A11_ENST00000424767.2_Missense_Mutation_p.R219L|SLC5A11_ENST00000567758.1_Missense_Mutation_p.R219L|SLC5A11_ENST00000449109.2_Intron|SLC5A11_ENST00000545376.1_Missense_Mutation_p.R184L|SLC5A11_ENST00000539472.1_Missense_Mutation_p.R190L	NM_052944.3	NP_443176.2			solute carrier family 5 (sodium/inositol cotransporter), member 11									p.R254L(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(30)|ovary(2)|prostate(2)|urinary_tract(1)	49				GBM - Glioblastoma multiforme(48;0.0365)		GGGCTGCCCCGGGAAGATGCC	0.577																																						uc002dmu.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(760-762)CGG>CTG		solute carrier family 5 (sodium/glucose							118.0	121.0	120.0					16																	24902286		2197	4300	6497	SO:0001583	missense	115584				apoptosis|carbohydrate transport|sodium ion transport	integral to membrane|plasma membrane	polyol transmembrane transporter activity|symporter activity	g.chr16:24902286G>T	AF292385	CCDS10625.1, CCDS58437.1, CCDS58438.1, CCDS58439.1, CCDS58440.1	16p12.1	2013-07-19	2013-07-19		ENSG00000158865	ENSG00000158865		"""Solute carriers"""	23091	protein-coding gene	gene with protein product		610238	"""solute carrier family 5 (sodium/glucose cotransporter), member 11"""			12039040, 12133831	Standard	NM_001258414		Approved	KST1, SMIT2, SGLT6	uc002dmu.4	Q8WWX8	OTTHUMG00000097003	ENST00000347898.3:c.761G>T	16.37:g.24902286G>T	ENSP00000289932:p.Arg254Leu					SLC5A11_uc002dms.2_Missense_Mutation_p.R190L|SLC5A11_uc010vcd.1_Missense_Mutation_p.R219L|SLC5A11_uc002dmt.2_Intron|SLC5A11_uc010vce.1_Missense_Mutation_p.R184L|SLC5A11_uc010bxt.2_Missense_Mutation_p.R190L	p.R254L	NM_052944	NP_443176	Q8WWX8	SC5AB_HUMAN		GBM - Glioblastoma multiforme(48;0.0365)	9	993	+			254			Extracellular (Potential).			Missense_Mutation	SNP	ENST00000347898.3	37	c.761G>T	CCDS10625.1	.	.	.	.	.	.	.	.	.	.	G	35	5.447916	0.96205	.	.	ENSG00000158865	ENST00000347898;ENST00000424767;ENST00000545376;ENST00000539472	D;D;D;D	0.88124	-2.34;-2.34;-2.34;-2.34	5.71	5.71	0.89125	.	0.000000	0.85682	D	0.000000	D	0.93022	0.7779	M	0.71581	2.175	0.80722	D	1	D;D;D	0.89917	1.0;0.994;0.995	D;D;D	0.83275	0.996;0.94;0.952	D	0.93189	0.6581	10	0.66056	D	0.02	.	17.3547	0.87332	0.0:0.0:1.0:0.0	.	184;219;254	B7Z329;Q8WWX8-2;Q8WWX8	.;.;SC5AB_HUMAN	L	254;219;184;190	ENSP00000289932:R254L;ENSP00000416782:R219L;ENSP00000441384:R184L;ENSP00000441018:R190L	ENSP00000289932:R254L	R	+	2	0	SLC5A11	24809787	1.000000	0.71417	0.978000	0.43139	0.965000	0.64279	9.687000	0.98667	2.700000	0.92200	0.650000	0.86243	CGG		PASS	0.577	SLC5A11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214091.3	NM_052944		95	76	95	76	---	---	---	---
APOBR	55911	broad.mit.edu	37	16	28507281	28507282	+	Missense_Mutation	DNP	GG	GG	AT			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr16:28507281_28507282GG>AT	ENST00000431282.1	+	2	929_930	c.919_920GG>AT	c.(919-921)GGg>ATg	p.G307M	APOBR_ENST00000564831.1_Missense_Mutation_p.G307M|CLN3_ENST00000569430.1_5'Flank|APOBR_ENST00000328423.5_Missense_Mutation_p.G307M|CLN3_ENST00000567160.1_5'Flank			Q0VD83	APOBR_HUMAN	apolipoprotein B receptor	307	Glu-rich.				cholesterol metabolic process (GO:0008203)|lipid transport (GO:0006869)|triglyceride metabolic process (GO:0006641)	chylomicron (GO:0042627)|low-density lipoprotein particle (GO:0034362)|membrane (GO:0016020)|plasma membrane (GO:0005886)|very-low-density lipoprotein particle (GO:0034361)	very-low-density lipoprotein particle receptor activity (GO:0030229)	p.G307V(1)|p.G307M(1)|p.G307R(1)		breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(11)|prostate(1)|skin(2)|stomach(1)	29						AATCTCAGGCGGGGAGGAGGCT	0.653																																						uc002dqb.1																			3	Substitution - Missense(3)		lung(3)		0						c.(919-921)GGG>AGG|c.(919-921)GGG>GTG		apolipoprotein B48 receptor																																				SO:0001583	missense	55911				cholesterol metabolic process|lipid transport	chylomicron|low-density lipoprotein particle|plasma membrane|very-low-density lipoprotein particle		g.chr16:28507281G>A|g.chr16:28507282G>T	AK025123	CCDS58442.1	16p11.2	2011-02-14			ENSG00000184730	ENSG00000184730			24087	protein-coding gene	gene with protein product	"""apolipoprotein B48 receptor"", ""apolipoprotein B100 receptor"""	605220				10852956	Standard	NM_018690		Approved	APOB48R, APOB100R	uc002dqb.2	Q0VD83		Exception_encountered	16.37:g.28507281_28507282delinsAT	ENSP00000416094:p.Gly307Met					uc010vct.1_Intron|APOB48R_uc010byg.1_5'UTR	p.G307R|p.G307V	NM_018690	NP_061160	Q0VD83	APOBR_HUMAN			2	929|930	+			307			Glu-rich.		H3BU97|Q0VD81|Q8NC15|Q9NPJ9	Missense_Mutation	SNP	ENST00000431282.1	37	c.919G>A|c.920G>T																																																																																					PASS	0.653	APOBR-202	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_182804		5	9	5	9	---	---	---	---
ZNF423	23090	broad.mit.edu	37	16	49670164	49670164	+	Missense_Mutation	SNP	G	G	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr16:49670164G>T	ENST00000561648.1	-	4	2952	c.2899C>A	c.(2899-2901)Cgc>Agc	p.R967S	ZNF423_ENST00000562520.1_Missense_Mutation_p.R907S|ZNF423_ENST00000563137.2_Missense_Mutation_p.R907S|ZNF423_ENST00000567169.1_Missense_Mutation_p.R850S|ZNF423_ENST00000262383.2_Missense_Mutation_p.R967S|ZNF423_ENST00000535559.1_Missense_Mutation_p.R850S|ZNF423_ENST00000562871.1_Missense_Mutation_p.R907S	NM_001271620.1	NP_001258549.1	Q2M1K9	ZN423_HUMAN	zinc finger protein 423	967					cell differentiation (GO:0030154)|negative regulation of transcription, DNA-templated (GO:0045892)|nervous system development (GO:0007399)|Notch signaling pathway (GO:0007219)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.R967S(2)		breast(1)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(16)|lung(47)|ovary(1)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2)	89		all_cancers(37;0.0155)				GAAGGGAAGCGCTCACCACAG	0.612																																						uc002efs.2																			2	Substitution - Missense(2)		lung(2)	ovary(1)|lung(1)|kidney(1)|pancreas(1)	4						c.(2899-2901)CGC>AGC		zinc finger protein 423							67.0	50.0	56.0					16																	49670164		2198	4300	6498	SO:0001583	missense	23090				cell differentiation|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding	g.chr16:49670164G>T	AB018303	CCDS32445.1, CCDS61930.1	16q12	2014-01-28				ENSG00000102935		"""Zinc fingers, C2H2-type"""	16762	protein-coding gene	gene with protein product	"""OLF-1/EBF associated zinc finger gene"", "" Smad- and Olf-interacting zinc finger protein"", ""early B-cell factor associated zinc finger protein"""	604557				9872452, 10660046	Standard	NM_001271620		Approved	KIAA0760, OAZ, Roaz, Ebfaz, Zfp104, NPHP14, JBTS19	uc031qwd.1	Q2M1K9		ENST00000561648.1:c.2899C>A	16.37:g.49670164G>T	ENSP00000455426:p.Arg967Ser					ZNF423_uc010vgn.1_Missense_Mutation_p.R850S	p.R967S	NM_015069	NP_055884	Q2M1K9	ZN423_HUMAN			5	3197	-		all_cancers(37;0.0155)	967			C2H2-type 23.		O94860|Q76N04|Q9NZ13	Missense_Mutation	SNP	ENST00000561648.1	37	c.2899C>A	CCDS32445.1	.	.	.	.	.	.	.	.	.	.	G	16.55	3.153571	0.57259	.	.	ENSG00000102935	ENST00000262383;ENST00000535559	T;T	0.18016	2.24;2.24	4.81	3.81	0.43845	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.85682	D	0.000000	T	0.20577	0.0495	N	0.10707	0.03	0.45867	D	0.998725	D	0.89917	1.0	D	0.97110	1.0	T	0.18429	-1.0337	9	.	.	.	-41.7589	14.3773	0.66886	0.0:0.0:0.8518:0.1482	.	967	Q2M1K9	ZN423_HUMAN	S	967;850	ENSP00000262383:R967S;ENSP00000442321:R850S	.	R	-	1	0	ZNF423	48227665	1.000000	0.71417	1.000000	0.80357	0.832000	0.47134	5.800000	0.69108	2.234000	0.73211	0.561000	0.74099	CGC		PASS	0.612	ZNF423-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000423258.1	NM_015069		29	24	29	24	---	---	---	---
NOD2	64127	broad.mit.edu	37	16	50745311	50745311	+	Missense_Mutation	SNP	C	C	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr16:50745311C>A	ENST00000300589.2	+	4	1594	c.1489C>A	c.(1489-1491)Cag>Aag	p.Q497K	RP11-327F22.6_ENST00000602304.1_RNA	NM_022162.1	NP_071445.1	Q9HC29	NOD2_HUMAN	nucleotide-binding oligomerization domain containing 2	497	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.				activation of MAPK activity (GO:0000187)|activation of MAPK activity involved in innate immune response (GO:0035419)|cellular response to muramyl dipeptide (GO:0071225)|cellular response to peptidoglycan (GO:0071224)|cytokine production involved in immune response (GO:0002367)|defense response (GO:0006952)|defense response to bacterium (GO:0042742)|defense response to Gram-positive bacterium (GO:0050830)|detection of bacterium (GO:0016045)|detection of biotic stimulus (GO:0009595)|detection of muramyl dipeptide (GO:0032498)|immunoglobulin production involved in immunoglobulin mediated immune response (GO:0002381)|innate immune response (GO:0045087)|innate immune response in mucosa (GO:0002227)|intracellular signal transduction (GO:0035556)|JNK cascade (GO:0007254)|macrophage inflammatory protein-1 alpha production (GO:0071608)|maintenance of gastrointestinal epithelium (GO:0030277)|microglial cell activation involved in immune response (GO:0002282)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of growth of symbiont in host (GO:0044130)|negative regulation of inflammatory response to antigenic stimulus (GO:0002862)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of interleukin-12 production (GO:0032695)|negative regulation of interleukin-18 production (GO:0032701)|negative regulation of interleukin-2 production (GO:0032703)|negative regulation of macrophage apoptotic process (GO:2000110)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of T cell mediated immunity (GO:0002710)|negative regulation of toll-like receptor 2 signaling pathway (GO:0034136)|negative regulation of tumor necrosis factor production (GO:0032720)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing 2 signaling pathway (GO:0070431)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|pathogen-associated molecular pattern dependent induction by symbiont of host innate immune response (GO:0052033)|positive regulation of B cell activation (GO:0050871)|positive regulation of biosynthetic process of antibacterial peptides active against Gram-positive bacteria (GO:0006965)|positive regulation of dendritic cell antigen processing and presentation (GO:0002606)|positive regulation of dendritic cell cytokine production (GO:0002732)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of gamma-delta T cell activation (GO:0046645)|positive regulation of humoral immune response mediated by circulating immunoglobulin (GO:0002925)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-1 beta production (GO:0032731)|positive regulation of interleukin-1 beta secretion (GO:0050718)|positive regulation of interleukin-10 production (GO:0032733)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-17 production (GO:0032740)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of JNK cascade (GO:0046330)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of oxidoreductase activity (GO:0051353)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phagocytosis (GO:0050766)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of prostaglandin-E synthase activity (GO:2000363)|positive regulation of prostaglandin-endoperoxide synthase activity (GO:0060585)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of stress-activated MAPK cascade (GO:0032874)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|positive regulation of type 2 immune response (GO:0002830)|protein oligomerization (GO:0051259)|regulation of inflammatory response (GO:0050727)|regulation of neutrophil chemotaxis (GO:0090022)|response to exogenous dsRNA (GO:0043330)|response to lipopolysaccharide (GO:0032496)|response to muramyl dipeptide (GO:0032495)|response to nutrient (GO:0007584)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|vesicle (GO:0031982)	ATP binding (GO:0005524)|CARD domain binding (GO:0050700)|enzyme binding (GO:0019899)|muramyl dipeptide binding (GO:0032500)|peptidoglycan binding (GO:0042834)|protein kinase binding (GO:0019901)	p.Q497K(1)		cervix(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(30)|ovary(3)|skin(3)	52		all_cancers(37;0.0156)				CAAATGCCACCAGGAACTGTT	0.597																																						uc002egm.1																			1	Substitution - Missense(1)		lung(1)	ovary(3)|skin(1)	4						c.(1489-1491)CAG>AAG		nucleotide-binding oligomerization domain							69.0	71.0	70.0					16																	50745311		2197	4300	6497	SO:0001583	missense	64127				activation of MAPK activity involved in innate immune response|cytokine production involved in immune response|detection of bacterium|detection of muramyl dipeptide|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of macrophage apoptosis|nucleotide-binding oligomerization domain containing 2 signaling pathway|positive regulation of B cell activation|positive regulation of dendritic cell antigen processing and presentation|positive regulation of epithelial cell proliferation|positive regulation of ERK1 and ERK2 cascade|positive regulation of gamma-delta T cell activation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-1 beta secretion|positive regulation of interleukin-10 production|positive regulation of interleukin-17 production|positive regulation of interleukin-6 production|positive regulation of JNK cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of Notch signaling pathway|positive regulation of phosphatidylinositol 3-kinase activity|positive regulation of prostaglandin-E synthase activity|positive regulation of prostaglandin-endoperoxide synthase activity|positive regulation of stress-activated MAPK cascade|positive regulation of tumor necrosis factor production|positive regulation of type 2 immune response|protein oligomerization|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cell surface|cytosol|plasma membrane|vesicle	ATP binding|CARD domain binding|muramyl dipeptide binding|protein kinase binding	g.chr16:50745311C>A	AF178930	CCDS10746.1	16q12	2014-09-17	2006-12-08	2006-12-08	ENSG00000167207	ENSG00000167207		"""Nucleotide-binding domain and leucine rich repeat containing"""	5331	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and CARD domain containing 2"", ""NOD-like receptor C2"", ""NLR family, CARD domain containing 2"""	605956	"""caspase recruitment domain family, member 15"""	IBD1, CARD15		7809109, 8587604	Standard	XM_005256084		Approved	BLAU, CD, PSORAS1, CLR16.3, NLRC2	uc002egm.1	Q9HC29	OTTHUMG00000133171	ENST00000300589.2:c.1489C>A	16.37:g.50745311C>A	ENSP00000300589:p.Gln497Lys					NOD2_uc010cbk.1_Missense_Mutation_p.Q470K|NOD2_uc002egl.1_Missense_Mutation_p.Q275K|NOD2_uc010cbl.1_Missense_Mutation_p.Q275K|NOD2_uc010cbm.1_Missense_Mutation_p.Q275K|NOD2_uc010cbn.1_RNA|NOD2_uc010cbo.1_RNA|NOD2_uc010cbp.1_5'Flank|NOD2_uc010cbq.1_5'Flank|NOD2_uc010cbr.1_5'Flank	p.Q497K	NM_022162	NP_071445	Q9HC29	NOD2_HUMAN			4	1594	+		all_cancers(37;0.0156)	497			NACHT.		E2JEQ6|Q96RH5|Q96RH6|Q96RH8	Missense_Mutation	SNP	ENST00000300589.2	37	c.1489C>A	CCDS10746.1	.	.	.	.	.	.	.	.	.	.	C	6.483	0.457271	0.12342	.	.	ENSG00000167207	ENST00000526417;ENST00000300589	T	0.68181	-0.31	4.98	1.67	0.24075	.	0.795701	0.11338	N	0.574346	T	0.46464	0.1394	N	0.17631	0.505	0.29163	N	0.877619	B;B;B	0.12630	0.003;0.002;0.006	B;B;B	0.12156	0.004;0.007;0.004	T	0.35251	-0.9796	10	0.17369	T	0.5	.	7.9994	0.30288	0.1719:0.3935:0.4346:0.0	.	281;470;497	D6CHF9;Q9HC29-2;Q9HC29	.;.;NOD2_HUMAN	K	470;497	ENSP00000300589:Q497K	ENSP00000300589:Q497K	Q	+	1	0	NOD2	49302812	0.986000	0.35501	0.991000	0.47740	0.977000	0.68977	0.570000	0.23653	1.068000	0.40764	0.561000	0.74099	CAG		PASS	0.597	NOD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256876.2	NM_022162		63	72	63	72	---	---	---	---
SALL1	6299	broad.mit.edu	37	16	51175911	51175911	+	Silent	SNP	T	T	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr16:51175911T>A	ENST00000251020.4	-	2	255	c.222A>T	c.(220-222)gtA>gtT	p.V74V	SALL1_ENST00000562674.1_5'Flank|SALL1_ENST00000541611.1_Intron|SALL1_ENST00000566102.1_Intron|SALL1_ENST00000440970.1_5'UTR	NM_002968.2	NP_002959.2	Q9NSC2	SALL1_HUMAN	spalt-like transcription factor 1	74					adrenal gland development (GO:0030325)|branching involved in ureteric bud morphogenesis (GO:0001658)|embryonic digestive tract development (GO:0048566)|embryonic digit morphogenesis (GO:0042733)|forelimb morphogenesis (GO:0035136)|gonad development (GO:0008406)|heart development (GO:0007507)|hindlimb morphogenesis (GO:0035137)|histone deacetylation (GO:0016575)|inductive cell-cell signaling (GO:0031129)|kidney development (GO:0001822)|kidney epithelium development (GO:0072073)|limb development (GO:0060173)|mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0003337)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube closure (GO:0001843)|olfactory bulb interneuron differentiation (GO:0021889)|olfactory bulb mitral cell layer development (GO:0061034)|olfactory nerve development (GO:0021553)|outer ear morphogenesis (GO:0042473)|pituitary gland development (GO:0021983)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of neural precursor cell proliferation (GO:2000177)|transcription, DNA-templated (GO:0006351)|ureteric bud development (GO:0001657)|ureteric bud invasion (GO:0072092)|ventricular septum development (GO:0003281)	chromocenter (GO:0010369)|cytoplasm (GO:0005737)|heterochromatin (GO:0000792)|nucleus (GO:0005634)|NuRD complex (GO:0016581)	beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.V74V(1)		NS(4)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(25)|lung(61)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	126		all_cancers(37;0.0322)	COAD - Colon adenocarcinoma(2;0.24)			GATTTTCATTTACGATTAAAA	0.443																																					GBM(103;1352 1446 1855 4775 8890)	uc010vgs.1																			1	Substitution - coding silent(1)		lung(1)	skin(5)|ovary(3)	8						c.(220-222)GTA>GTT		sal-like 1 isoform a							79.0	87.0	84.0					16																	51175911		2197	4300	6497	SO:0001819	synonymous_variant	6299				adrenal gland development|branching involved in ureteric bud morphogenesis|embryonic digestive tract development|embryonic digit morphogenesis|gonad development|histone deacetylation|inductive cell-cell signaling|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of transcription from RNA polymerase II promoter|olfactory bulb interneuron differentiation|olfactory bulb mitral cell layer development|olfactory nerve development|outer ear morphogenesis|pituitary gland development|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway|ureteric bud invasion|ventricular septum development	chromocenter|cytoplasm|heterochromatin|nucleus	beta-catenin binding|DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr16:51175911T>A	X98833	CCDS10747.1, CCDS45483.1	16q12.1	2014-09-17	2013-10-17		ENSG00000103449	ENSG00000103449		"""Zinc fingers, C2H2-type"""	10524	protein-coding gene	gene with protein product		602218	"""sal (Drosophila)-like 1"", ""sal-like 1 (Drosophila)"""	TBS		9425907	Standard	NM_002968		Approved	Hsal1, ZNF794	uc021tie.1	Q9NSC2	OTTHUMG00000133176	ENST00000251020.4:c.222A>T	16.37:g.51175911T>A						SALL1_uc010vgr.1_5'UTR|SALL1_uc010cbv.2_Intron	p.V74V	NM_002968	NP_002959	Q9NSC2	SALL1_HUMAN	COAD - Colon adenocarcinoma(2;0.24)		2	253	-		all_cancers(37;0.0322)	74					Q99881|Q9NSC3|Q9P1R0	Silent	SNP	ENST00000251020.4	37	c.222A>T	CCDS10747.1																																																																																				PASS	0.443	SALL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256883.2	NM_002968		81	45	81	45	---	---	---	---
IRX5	10265	broad.mit.edu	37	16	54966530	54966530	+	Missense_Mutation	SNP	G	G	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr16:54966530G>A	ENST00000394636.4	+	2	707	c.370G>A	c.(370-372)Gcc>Acc	p.A124T	IRX5_ENST00000558597.1_Missense_Mutation_p.A58T|CTD-3032H12.2_ENST00000560487.1_lincRNA|IRX5_ENST00000560154.1_Intron|IRX5_ENST00000320990.5_Missense_Mutation_p.A124T			P78411	IRX5_HUMAN	iroquois homeobox 5	124					embryonic cranial skeleton morphogenesis (GO:0048701)|gonad development (GO:0008406)|neuron maturation (GO:0042551)|regulation of heart rate (GO:0002027)|regulation of transcription, DNA-templated (GO:0006355)|response to stimulus (GO:0050896)|retinal bipolar neuron differentiation (GO:0060040)|transcription, DNA-templated (GO:0006351)|visual perception (GO:0007601)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|vitamin D binding (GO:0005499)	p.A124T(1)		kidney(3)|large_intestine(6)|lung(4)|prostate(1)	14						CACAAGGGACGCCACGGCTAC	0.637																																						uc002ehv.2																			1	Substitution - Missense(1)		lung(1)		0						c.(370-372)GCC>ACC		iroquois homeobox protein 5							134.0	105.0	115.0					16																	54966530		2198	4300	6498	SO:0001583	missense	10265				response to stimulus|visual perception	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|vitamin D binding	g.chr16:54966530G>A	U90309	CCDS10751.1, CCDS58462.1	16q12.2	2011-06-20	2007-07-13		ENSG00000176842	ENSG00000176842		"""Homeoboxes / TALE class"""	14361	protein-coding gene	gene with protein product		606195					Standard	NM_005853		Approved	IRX-2a	uc002ehv.3	P78411	OTTHUMG00000133201	ENST00000394636.4:c.370G>A	16.37:g.54966530G>A	ENSP00000378132:p.Ala124Thr					IRX5_uc010cca.1_Missense_Mutation_p.A176T|IRX5_uc002ehw.2_Missense_Mutation_p.A58T	p.A124T	NM_005853	NP_005844	P78411	IRX5_HUMAN			2	370	+			124			Homeobox; TALE-type.		H0YMS7|P78416|Q7Z2E1	Missense_Mutation	SNP	ENST00000394636.4	37	c.370G>A	CCDS10751.1	.	.	.	.	.	.	.	.	.	.	G	19.62	3.862242	0.71949	.	.	ENSG00000176842	ENST00000394636;ENST00000320990	D;D	0.84146	-1.81;-1.81	4.58	4.58	0.56647	Homeodomain-related (1);Homeobox (2);Homeodomain-like (1);	0.000000	0.85682	D	0.000000	D	0.86218	0.5880	N	0.25485	0.75	0.80722	D	1	D	0.89917	1.0	D	0.77004	0.989	T	0.81936	-0.0705	10	0.12103	T	0.63	-14.6901	17.1631	0.86809	0.0:0.0:1.0:0.0	.	124	P78411	IRX5_HUMAN	T	124	ENSP00000378132:A124T;ENSP00000316250:A124T	ENSP00000316250:A124T	A	+	1	0	IRX5	53524031	1.000000	0.71417	1.000000	0.80357	0.747000	0.42532	4.714000	0.61902	2.366000	0.80165	0.655000	0.94253	GCC		PASS	0.637	IRX5-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256911.2			71	48	71	48	---	---	---	---
GPR114	221188	broad.mit.edu	37	16	57608958	57608958	+	Missense_Mutation	SNP	C	C	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr16:57608958C>A	ENST00000340339.4	+	11	1963	c.1440C>A	c.(1438-1440)ttC>ttA	p.F480L	GPR114_ENST00000394361.4_3'UTR|GPR114_ENST00000349457.3_Missense_Mutation_p.F480L	NM_153837.1	NP_722579.1	Q8IZF4	GP114_HUMAN	G protein-coupled receptor 114	480					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.F480L(1)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(5)|lung(5)|ovary(2)|stomach(1)|urinary_tract(1)	23						TTGGCGTCTTCCTGCTGCCCC	0.607																																						uc002elx.3																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1						c.(1438-1440)TTC>TTA		G protein-coupled receptor 114 precursor							100.0	81.0	87.0					16																	57608958		2198	4300	6498	SO:0001583	missense	221188				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr16:57608958C>A	AY140956	CCDS10785.1	16q13	2014-08-08			ENSG00000159618	ENSG00000159618		"""-"", ""GPCR / Class B : Orphans"""	19010	protein-coding gene	gene with protein product						12435584	Standard	NM_153837		Approved	PGR27	uc002ely.3	Q8IZF4	OTTHUMG00000133461	ENST00000340339.4:c.1440C>A	16.37:g.57608958C>A	ENSP00000342981:p.Phe480Leu					GPR114_uc010vhr.1_Missense_Mutation_p.S441Y|GPR114_uc002ely.2_Missense_Mutation_p.F480L	p.F480L	NM_153837	NP_722579	Q8IZF4	GP114_HUMAN			11	1525	+			480			Extracellular (Potential).		B3KXZ5|Q6ZMH7|Q6ZML4|Q86SL8|Q8IZ14	Missense_Mutation	SNP	ENST00000340339.4	37	c.1440C>A	CCDS10785.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	16.22|16.22	3.060590|3.060590	0.55432|0.55432	.|.	.|.	ENSG00000159618|ENSG00000159618	ENST00000340339;ENST00000349457|ENST00000394361	T;T|.	0.39787|.	1.06;1.06|.	5.03|5.03	2.76|2.76	0.32466|0.32466	GPCR, family 2-like (1);|.	0.345446|.	0.25119|.	N|.	0.032992|.	T|T	0.37433|0.37433	0.1003|0.1003	N|N	0.13352|0.13352	0.335|0.335	0.46458|0.46458	D|D	0.999052|0.999052	B|D	0.25007|0.59767	0.116|0.986	B|P	0.22601|0.52758	0.04|0.708	T|T	0.23833|0.23833	-1.0177|-1.0177	10|8	0.06494|0.87932	T|D	0.89|0	.|.	6.0136|6.0136	0.19589|0.19589	0.0:0.6917:0.1795:0.1288|0.0:0.6917:0.1795:0.1288	.|.	480|441	Q8IZF4|B4E148	GP114_HUMAN|.	L|Y	480|441	ENSP00000342981:F480L;ENSP00000290823:F480L|.	ENSP00000342981:F480L|ENSP00000377888:S441Y	F|S	+|+	3|2	2|0	GPR114|GPR114	56166459|56166459	0.074000|0.074000	0.21230|0.21230	0.999000|0.999000	0.59377|0.59377	0.888000|0.888000	0.51559|0.51559	0.277000|0.277000	0.18734|0.18734	0.497000|0.497000	0.27926|0.27926	0.491000|0.491000	0.48974|0.48974	TTC|TCC		PASS	0.607	GPR114-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257336.3	NM_153837		28	29	28	29	---	---	---	---
CNGB1	1258	broad.mit.edu	37	16	58001179	58001179	+	Nonsense_Mutation	SNP	C	C	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr16:58001179C>T	ENST00000251102.8	-	2	72	c.12G>A	c.(10-12)tgG>tgA	p.W4*	CNGB1_ENST00000311183.4_Nonsense_Mutation_p.W4*|CNGB1_ENST00000564448.1_Nonsense_Mutation_p.W4*	NM_001297.4	NP_001288.3	Q14028	CNGB1_HUMAN	cyclic nucleotide gated channel beta 1	4					cation transport (GO:0006812)|cytosolic calcium ion homeostasis (GO:0051480)|detection of light stimulus involved in visual perception (GO:0050908)|phototransduction, visible light (GO:0007603)|potassium ion transmembrane transport (GO:0071805)|protein heterotetramerization (GO:0051290)|regulation of membrane potential (GO:0042391)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|retina homeostasis (GO:0001895)|rhodopsin mediated signaling pathway (GO:0016056)|sensory perception of smell (GO:0007608)|transport (GO:0006810)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|intracellular cyclic nucleotide activated cation channel complex (GO:0017071)|plasma membrane (GO:0005886)|terminal bouton (GO:0043195)|transmembrane transporter complex (GO:1902495)	cAMP binding (GO:0030552)|cGMP binding (GO:0030553)|intracellular cAMP activated cation channel activity (GO:0005222)|intracellular cGMP activated cation channel activity (GO:0005223)|ligand-gated ion channel activity (GO:0015276)|voltage-gated potassium channel activity (GO:0005249)	p.W4*(1)		breast(7)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(11)|liver(1)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	54						CCCTCTGGACCCAGCCCAACA	0.597																																					Colon(156;1293 1853 16336 28962 38659)	uc002emt.2																			1	Substitution - Nonsense(1)		lung(1)	breast(3)|pancreas(1)	4						c.(10-12)TGG>TGA		cyclic nucleotide gated channel beta 1 isoform							59.0	60.0	60.0					16																	58001179		1937	4139	6076	SO:0001587	stop_gained	1258				sensory perception of smell	intracellular cyclic nucleotide activated cation channel complex	cAMP binding|intracellular cAMP activated cation channel activity	g.chr16:58001179C>T	AF042498	CCDS42169.1, CCDS45495.1, CCDS67042.1	16q13	2013-02-14			ENSG00000070729	ENSG00000070729		"""Voltage-gated ion channels / Cyclic nucleotide-regulated channels"""	2151	protein-coding gene	gene with protein product	"""glutamic acid-rich protein"""	600724		CNCG2, CNCG3L		8766832, 7590744, 16382102	Standard	NM_001297		Approved	RCNC2, RCNCb, GARP, GAR1, CNGB1B, RP45	uc002emt.2	Q14028	OTTHUMG00000154810	ENST00000251102.8:c.12G>A	16.37:g.58001179C>T	ENSP00000251102:p.Trp4*					CNGB1_uc010cdh.2_Nonsense_Mutation_p.W4*|CNGB1_uc002emu.2_Nonsense_Mutation_p.W4*	p.W4*	NM_001297	NP_001288	Q14028	CNGB1_HUMAN			2	77	-			4					H3BN09|O43636|Q13059|Q14029|Q9UMG2	Nonsense_Mutation	SNP	ENST00000251102.8	37	c.12G>A	CCDS42169.1	.	.	.	.	.	.	.	.	.	.	C	37	6.233586	0.97399	.	.	ENSG00000070729	ENST00000251102;ENST00000311183	.	.	.	5.06	5.06	0.68205	.	0.000000	0.36409	N	0.002620	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	14.2837	0.66232	0.0:1.0:0.0:0.0	.	.	.	.	X	4	.	ENSP00000251102:W4X	W	-	3	0	CNGB1	56558680	1.000000	0.71417	1.000000	0.80357	0.952000	0.60782	3.817000	0.55668	2.516000	0.84829	0.448000	0.29417	TGG		PASS	0.597	CNGB1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000337167.2	NM_001297		23	33	23	33	---	---	---	---
ZNF319	57567	broad.mit.edu	37	16	58031855	58031855	+	Missense_Mutation	SNP	C	C	A	rs370379809		TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr16:58031855C>A	ENST00000299237.2	-	2	937	c.315G>T	c.(313-315)caG>caT	p.Q105H	USB1_ENST00000561743.1_5'Flank	NM_020807.1	NP_065858.1	Q9P2F9	ZN319_HUMAN	zinc finger protein 319	105					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.Q105H(1)		large_intestine(2)|lung(4)|ovary(1)|urinary_tract(1)	8						ACTGTGTGCACTGGAATGAGC	0.617																																						uc002emx.1																			1	Substitution - Missense(1)		lung(1)		0						c.(313-315)CAG>CAT		zinc finger protein 319							58.0	53.0	54.0					16																	58031855		2198	4300	6498	SO:0001583	missense	57567				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr16:58031855C>A	AB037809	CCDS32462.1	16q21	2013-01-08				ENSG00000166188		"""Zinc fingers, C2H2-type"""	13644	protein-coding gene	gene with protein product						10718198, 11161788	Standard	XM_005256069		Approved	KIAA1388, Zfp319	uc002emx.1	Q9P2F9		ENST00000299237.2:c.315G>T	16.37:g.58031855C>A	ENSP00000299237:p.Gln105His						p.Q105H	NM_020807	NP_065858	Q9P2F9	ZN319_HUMAN			2	938	-			105			C2H2-type 2; degenerate.		Q52LH8	Missense_Mutation	SNP	ENST00000299237.2	37	c.315G>T	CCDS32462.1	.	.	.	.	.	.	.	.	.	.	C	15.11	2.735994	0.49045	.	.	ENSG00000166188	ENST00000299237	T	0.03413	3.94	5.33	5.33	0.75918	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.85682	D	0.000000	T	0.12008	0.0292	L	0.50919	1.6	0.58432	D	0.999994	D	0.71674	0.998	D	0.68192	0.956	T	0.00298	-1.1837	10	0.62326	D	0.03	-30.9007	11.4754	0.50295	0.0:0.9178:0.0:0.0822	.	105	Q9P2F9	ZN319_HUMAN	H	105	ENSP00000299237:Q105H	ENSP00000299237:Q105H	Q	-	3	2	ZNF319	56589356	1.000000	0.71417	1.000000	0.80357	0.416000	0.31233	5.749000	0.68704	2.495000	0.84180	0.551000	0.68910	CAG		PASS	0.617	ZNF319-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000430317.1			33	36	33	36	---	---	---	---
CDH5	1003	broad.mit.edu	37	16	66432414	66432414	+	Missense_Mutation	SNP	T	T	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr16:66432414T>A	ENST00000341529.3	+	10	1689	c.1541T>A	c.(1540-1542)tTc>tAc	p.F514Y	CDH5_ENST00000539168.1_5'UTR	NM_001795.3	NP_001786.2	P33151	CADH5_HUMAN	cadherin 5, type 2 (vascular endothelium)	514	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|blood vessel maturation (GO:0001955)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|negative regulation of cell proliferation (GO:0008285)|regulation of establishment of cell polarity (GO:2000114)	cell junction (GO:0030054)|cell-cell junction (GO:0005911)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	beta-catenin binding (GO:0008013)|calcium ion binding (GO:0005509)|ion channel binding (GO:0044325)|receptor binding (GO:0005102)	p.F514Y(1)		central_nervous_system(1)|endometrium(3)|kidney(18)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	54		Ovarian(137;0.0955)		OV - Ovarian serous cystadenocarcinoma(108;0.107)	Lenalidomide(DB00480)	AACGTGAAGTTCAAATTCATC	0.483																																						uc002eom.3																			1	Substitution - Missense(1)		lung(1)	ovary(2)|lung(2)|central_nervous_system(1)|skin(1)	6						c.(1540-1542)TTC>TAC		cadherin 5, type 2 preproprotein							157.0	132.0	140.0					16																	66432414		2201	4300	6501	SO:0001583	missense	1003				adherens junction organization|cell junction assembly|homophilic cell adhesion|regulation of establishment of cell polarity	integral to membrane|membrane fraction	beta-catenin binding|calcium ion binding|ion channel binding|receptor binding	g.chr16:66432414T>A	X79981	CCDS10804.1	16q22.1	2010-01-26	2008-07-25		ENSG00000179776	ENSG00000179776		"""CD molecules"", ""Cadherins / Major cadherins"""	1764	protein-coding gene	gene with protein product	"""VE-cadherin"""	601120	"""cadherin 5, type 2, VE-cadherin (vascular epithelium)"""			2059658	Standard	NM_001795		Approved	7B4, CD144	uc002eom.4	P33151	OTTHUMG00000137495	ENST00000341529.3:c.1541T>A	16.37:g.66432414T>A	ENSP00000344115:p.Phe514Tyr						p.F514Y	NM_001795	NP_001786	P33151	CADH5_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.107)	10	1697	+		Ovarian(137;0.0955)	514			Cadherin 5.|Extracellular (Potential).		Q4VAI5|Q4VAI6	Missense_Mutation	SNP	ENST00000341529.3	37	c.1541T>A	CCDS10804.1	.	.	.	.	.	.	.	.	.	.	T	15.26	2.781019	0.49891	.	.	ENSG00000179776	ENST00000341529;ENST00000379531;ENST00000539262	T	0.15834	2.39	4.95	3.86	0.44501	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.42200	0.1192	M	0.87971	2.92	0.80722	D	1	D	0.56746	0.977	D	0.69824	0.966	T	0.32981	-0.9886	9	0.56958	D	0.05	.	8.2391	0.31650	0.0:0.0909:0.0:0.9091	.	514	P33151	CADH5_HUMAN	Y	514;399;255	ENSP00000344115:F514Y	ENSP00000344115:F514Y	F	+	2	0	CDH5	64989915	1.000000	0.71417	0.870000	0.34147	0.087000	0.18053	5.483000	0.66838	0.931000	0.37242	0.459000	0.35465	TTC		PASS	0.483	CDH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268767.1	NM_001795		31	41	31	41	---	---	---	---
PLEKHG4	25894	broad.mit.edu	37	16	67322176	67322176	+	Silent	SNP	G	G	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr16:67322176G>T	ENST00000360461.5	+	19	5862	c.3327G>T	c.(3325-3327)ctG>ctT	p.L1109L	PLEKHG4_ENST00000450733.1_Silent_p.L1028L|PLEKHG4_ENST00000379344.3_Silent_p.L1109L|PLEKHG4_ENST00000427155.2_Silent_p.L1109L	NM_001129727.1|NM_015432.3	NP_001123199.1|NP_056247.1	Q58EX7	PKHG4_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 4	1109							Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.L1109L(1)		central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	37				OV - Ovarian serous cystadenocarcinoma(108;0.00376)|Epithelial(162;0.0173)|all cancers(182;0.116)|Kidney(780;0.119)		GCTCTGTTCTGGGGTCCCTCA	0.622																																						uc002eso.3																			1	Substitution - coding silent(1)		lung(1)	skin(1)|pancreas(1)	2						c.(3325-3327)CTG>CTT		pleckstrin homology domain containing, family G							105.0	104.0	104.0					16																	67322176		2198	4300	6498	SO:0001819	synonymous_variant	25894				regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity	g.chr16:67322176G>T	AK024475	CCDS32466.1, CCDS45512.1	16q22.1	2013-01-11						"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	24501	protein-coding gene	gene with protein product	"""puratrophin-1"""	609526	"""spinocerebellar ataxia 4"""	SCA4		16491300, 16001362	Standard	NM_015432		Approved	DKFZP434I216, ARHGEF44	uc010cef.3	Q58EX7		ENST00000360461.5:c.3327G>T	16.37:g.67322176G>T						PLEKHG4_uc002esp.3_Silent_p.L916L|PLEKHG4_uc002esq.3_Silent_p.L1109L|PLEKHG4_uc010cef.2_Silent_p.L1109L|PLEKHG4_uc002ess.3_Silent_p.L1109L|PLEKHG4_uc010ceg.2_Silent_p.L1028L	p.L1109L	NM_015432	NP_056247	Q58EX7	PKHG4_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.00376)|Epithelial(162;0.0173)|all cancers(182;0.116)|Kidney(780;0.119)	19	5862	+			1109					Q4G0J8|Q4H485|Q56A69|Q9H7K4|Q9UFW0	Silent	SNP	ENST00000360461.5	37	c.3327G>T	CCDS32466.1																																																																																				PASS	0.622	PLEKHG4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000421395.2	NM_015432		94	76	94	76	---	---	---	---
FUK	197258	broad.mit.edu	37	16	70501323	70501323	+	Silent	SNP	A	A	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr16:70501323A>T	ENST00000288078.6	+	7	763	c.531A>T	c.(529-531)ccA>ccT	p.P177P	FUK_ENST00000571514.1_Intron|FUK_ENST00000378912.2_Silent_p.P209P	NM_145059.2	NP_659496.2	Q8N0W3	FUK_HUMAN	fucokinase	177						cytoplasm (GO:0005737)	ATP binding (GO:0005524)|fucokinase activity (GO:0050201)	p.P177P(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(11)|ovary(2)|prostate(2)	23		Ovarian(137;0.0694)				TCGCCCTCCCAGGGAGCCCGG	0.667																																						uc002eyy.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(529-531)CCA>CCT		fucokinase							22.0	26.0	25.0					16																	70501323		1915	4140	6055	SO:0001819	synonymous_variant	197258					cytoplasm	ATP binding|fucokinase activity	g.chr16:70501323A>T		CCDS10891.2	16q22.1	2008-02-05			ENSG00000157353	ENSG00000157353	2.7.1.52		29500	protein-coding gene	gene with protein product	"""L-fucose kinase"""	608675				12056818	Standard	XM_006721161		Approved	FLJ39408	uc002eyy.3	Q8N0W3	OTTHUMG00000074085	ENST00000288078.6:c.531A>T	16.37:g.70501323A>T						FUK_uc010vmb.1_3'UTR|FUK_uc010cft.2_Silent_p.P209P|FUK_uc002eyz.2_Intron	p.P177P	NM_145059	NP_659496	Q8N0W3	FUK_HUMAN			7	589	+		Ovarian(137;0.0694)	177					Q5PSM3|Q5XKL6|Q6ZRA0|Q96MT9	Silent	SNP	ENST00000288078.6	37	c.531A>T	CCDS10891.2																																																																																				PASS	0.667	FUK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157291.2	NM_145059		13	10	13	10	---	---	---	---
PMFBP1	83449	broad.mit.edu	37	16	72188115	72188115	+	Missense_Mutation	SNP	C	C	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr16:72188115C>T	ENST00000237353.10	-	4	670	c.409G>A	c.(409-411)Gat>Aat	p.D137N	PMFBP1_ENST00000543746.1_5'Flank|PMFBP1_ENST00000355636.6_5'UTR|PMFBP1_ENST00000537465.1_Missense_Mutation_p.D137N	NM_031293.2	NP_112583.2	Q8TBY8	PMFBP_HUMAN	polyamine modulated factor 1 binding protein 1	137						cytoplasm (GO:0005737)		p.D137N(1)		NS(1)|breast(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(25)|ovary(2)|skin(3)|urinary_tract(1)	45		Ovarian(137;0.179)				TATACCTCATCTTCTTTCAGT	0.458																																						uc002fcc.3																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(409-411)GAT>AAT		polyamine modulated factor 1 binding protein 1							154.0	147.0	149.0					16																	72188115		2198	4300	6498	SO:0001583	missense	83449							g.chr16:72188115C>T	AF239683	CCDS32483.1	16q23.1	2008-08-04			ENSG00000118557	ENSG00000118557			17728	protein-coding gene	gene with protein product						11468771	Standard	NM_031293		Approved		uc002fcd.3	Q8TBY8	OTTHUMG00000167827	ENST00000237353.10:c.409G>A	16.37:g.72188115C>T	ENSP00000237353:p.Asp137Asn					PMFBP1_uc002fcd.2_Missense_Mutation_p.D137N|PMFBP1_uc002fce.2_RNA|PMFBP1_uc002fcf.2_5'UTR	p.D137N	NM_031293	NP_112583	Q8TBY8	PMFBP_HUMAN			4	581	-		Ovarian(137;0.179)	137					B3KVI9|H7BY07|Q8NA09|Q9BY16|Q9H0H4	Missense_Mutation	SNP	ENST00000237353.10	37	c.409G>A	CCDS32483.1	.	.	.	.	.	.	.	.	.	.	C	23.7	4.442287	0.83993	.	.	ENSG00000118557	ENST00000537465;ENST00000237353;ENST00000535461	T;T	0.78364	-1.17;-1.17	5.63	2.59	0.31030	.	0.398017	0.21650	N	0.071194	T	0.59985	0.2234	N	0.24115	0.695	0.80722	D	1	B;B	0.25563	0.129;0.129	B;B	0.26202	0.067;0.067	T	0.44467	-0.9326	10	0.25751	T	0.34	-9.1287	5.87	0.18799	0.0:0.6711:0.1579:0.171	.	137;137	Q8TBY8-2;G3V1Q7	.;.	N	137	ENSP00000443817:D137N;ENSP00000237353:D137N	ENSP00000237353:D137N	D	-	1	0	PMFBP1	70745616	1.000000	0.71417	0.997000	0.53966	0.983000	0.72400	0.622000	0.24433	0.323000	0.23307	0.655000	0.94253	GAT		PASS	0.458	PMFBP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000396473.2	NM_031293		127	96	127	96	---	---	---	---
ADAMTS18	170692	broad.mit.edu	37	16	77331277	77331277	+	Missense_Mutation	SNP	G	G	T	rs267604646		TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr16:77331277G>T	ENST00000282849.5	-	18	3128	c.2710C>A	c.(2710-2712)Caa>Aaa	p.Q904K		NM_199355.2	NP_955387.1	Q8TE60	ATS18_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 18	904					eye development (GO:0001654)|negative regulation of platelet aggregation (GO:0090331)	proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.Q904K(1)|p.Q904*(1)		NS(1)|breast(5)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(26)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(19)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	118						TGAGTATTTTGATCTCGCAAG	0.383																																						uc002ffc.3																			2	Substitution - Nonsense(1)|Substitution - Missense(1)		lung(1)|skin(1)	large_intestine(4)|lung(4)|kidney(4)|skin(3)|breast(1)|ovary(1)|pancreas(1)	18						c.(2710-2712)CAA>AAA		ADAM metallopeptidase with thrombospondin type 1							161.0	159.0	159.0					16																	77331277		2198	4300	6498	SO:0001583	missense	170692				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr16:77331277G>T	AJ311903	CCDS10926.1	16q23	2008-07-29	2005-08-19		ENSG00000140873	ENSG00000140873		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	17110	protein-coding gene	gene with protein product		607512	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 18"""	ADAMTS21		11867212, 17546048	Standard	NM_199355		Approved		uc002ffc.4	Q8TE60	OTTHUMG00000137619	ENST00000282849.5:c.2710C>A	16.37:g.77331277G>T	ENSP00000282849:p.Gln904Lys					ADAMTS18_uc010chc.1_Missense_Mutation_p.Q492K|ADAMTS18_uc002ffe.1_Missense_Mutation_p.Q600K	p.Q904K	NM_199355	NP_955387	Q8TE60	ATS18_HUMAN			18	3129	-			904					Q6P4R5|Q6ZWJ9	Missense_Mutation	SNP	ENST00000282849.5	37	c.2710C>A	CCDS10926.1	.	.	.	.	.	.	.	.	.	.	G	11.03	1.518631	0.27211	.	.	ENSG00000140873	ENST00000282849	T	0.60424	0.19	5.96	5.96	0.96718	.	0.183861	0.48767	D	0.000179	T	0.53110	0.1776	L	0.43923	1.385	0.48452	D	0.999658	B;B	0.20459	0.003;0.045	B;B	0.17098	0.001;0.017	T	0.41734	-0.9492	10	0.28530	T	0.3	.	19.3963	0.94608	0.0:0.0:1.0:0.0	.	904;904	Q8TE60-2;Q8TE60	.;ATS18_HUMAN	K	904	ENSP00000282849:Q904K	ENSP00000282849:Q904K	Q	-	1	0	ADAMTS18	75888778	1.000000	0.71417	0.937000	0.37676	0.880000	0.50808	7.077000	0.76814	2.814000	0.96858	0.655000	0.94253	CAA		PASS	0.383	ADAMTS18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269037.1			72	67	72	67	---	---	---	---
ATMIN	23300	broad.mit.edu	37	16	81078197	81078197	+	Silent	SNP	G	G	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr16:81078197G>A	ENST00000299575.4	+	4	2118	c.2094G>A	c.(2092-2094)gaG>gaA	p.E698E	ATMIN_ENST00000566488.1_Silent_p.E542E|ATMIN_ENST00000539819.1_3'UTR|ATMIN_ENST00000564241.1_Silent_p.E542E	NM_015251.2	NP_056066.2	O43313	ATMIN_HUMAN	ATM interactor	698					cellular response to DNA damage stimulus (GO:0006974)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	dynein binding (GO:0045502)|metal ion binding (GO:0046872)|transcription regulatory region DNA binding (GO:0044212)	p.E698E(1)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	20						TAGGCCTTGAGATGTTTGACA	0.453																																						uc002ffz.1																			1	Substitution - coding silent(1)		lung(1)		0						c.(2092-2094)GAG>GAA		ATM interactor							144.0	151.0	148.0					16																	81078197		2202	4300	6502	SO:0001819	synonymous_variant	23300				response to DNA damage stimulus	nucleus	zinc ion binding	g.chr16:81078197G>A	BC002701	CCDS32494.1, CCDS73917.1	16q23.2	2013-01-07			ENSG00000166454	ENSG00000166454		"""Zinc fingers, C2H2-type"""	29034	protein-coding gene	gene with protein product	"""ATM/ATR-Substrate Chk2-Interacting Zn++-finger protein"", ""ATM INteracting protein"""	614693				15933716, 17525732, 19001856	Standard	XM_005255866		Approved	ASCIZ, KIAA0431, ZNF822	uc002ffz.1	O43313	OTTHUMG00000176469	ENST00000299575.4:c.2094G>A	16.37:g.81078197G>A						ATMIN_uc002fga.2_Silent_p.E540E|ATMIN_uc010vnn.1_Silent_p.E469E|ATMIN_uc002fgb.1_Silent_p.E540E	p.E698E	NM_015251	NP_056066	O43313	ATMIN_HUMAN			4	2112	+			698					A8K4H8|Q68DC9	Silent	SNP	ENST00000299575.4	37	c.2094G>A	CCDS32494.1																																																																																				PASS	0.453	ATMIN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000432140.1	NM_015251		144	117	144	117	---	---	---	---
OSGIN1	29948	broad.mit.edu	37	16	83999007	83999007	+	Missense_Mutation	SNP	A	A	G			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr16:83999007A>G	ENST00000343939.2	+	7	1461	c.1078A>G	c.(1078-1080)Agg>Ggg	p.R360G	OSGIN1_ENST00000361711.3_Missense_Mutation_p.R277G|OSGIN1_ENST00000393306.1_Missense_Mutation_p.R277G			Q9UJX0	OSGI1_HUMAN	oxidative stress induced growth inhibitor 1	360					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|negative regulation of cell growth (GO:0030308)|positive regulation of apoptotic process (GO:0043065)		growth factor activity (GO:0008083)	p.R360G(1)		autonomic_ganglia(1)|large_intestine(1)|lung(7)|prostate(2)|upper_aerodigestive_tract(1)	12						GGCCGCCACAAGGGTGGGTGC	0.706																																						uc002fha.2																			1	Substitution - Missense(1)		lung(1)		0						c.(1078-1080)AGG>GGG		oxidative stress induced growth inhibitor 1							20.0	24.0	23.0					16																	83999007		2154	4192	6346	SO:0001583	missense	29948				cell differentiation|multicellular organismal development|negative regulation of cell growth		growth factor activity	g.chr16:83999007A>G	AY258066	CCDS10939.1	16q23.3	2010-11-23			ENSG00000140961	ENSG00000140961			30093	protein-coding gene	gene with protein product	"""bone marrow stromal cell-derived growth inhibitor"", ""pregnancy induced growth inhibitor"""	607975				11459809, 14570898	Standard	NM_182981		Approved	BDGI, OKL38	uc002fhc.3	Q9UJX0	OTTHUMG00000137640	ENST00000343939.2:c.1078A>G	16.37:g.83999007A>G	ENSP00000343376:p.Arg360Gly					OSGIN1_uc002fhb.2_Missense_Mutation_p.R277G|OSGIN1_uc002fhc.2_Missense_Mutation_p.R277G	p.R360G	NM_013370	NP_037502	Q9UJX0	OSGI1_HUMAN			7	1461	+			360					Q52M33|Q86UQ1|Q96S88|Q9BZ70	Missense_Mutation	SNP	ENST00000343939.2	37	c.1078A>G		.	.	.	.	.	.	.	.	.	.	A	8.117	0.780171	0.16120	.	.	ENSG00000140961	ENST00000343939;ENST00000361711;ENST00000393306	T;T;T	0.22539	1.95;1.95;1.95	4.8	-0.593	0.11667	.	0.484774	0.23513	N	0.047361	T	0.21062	0.0507	L	0.58302	1.8	0.09310	N	1	B	0.33777	0.425	B	0.34418	0.182	T	0.14755	-1.0461	10	0.27082	T	0.32	-31.16	15.4582	0.75333	0.8472:0.1528:0.0:0.0	.	360	Q9UJX0	OSGI1_HUMAN	G	360;277;277	ENSP00000343376:R360G;ENSP00000355374:R277G;ENSP00000376983:R277G	ENSP00000343376:R360G	R	+	1	2	OSGIN1	82556508	0.000000	0.05858	0.000000	0.03702	0.014000	0.08584	-0.468000	0.06656	-0.291000	0.09012	0.383000	0.25322	AGG		PASS	0.706	OSGIN1-001	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000269081.1	NM_013370		27	15	27	15	---	---	---	---
NECAB2	54550	broad.mit.edu	37	16	84014711	84014711	+	Missense_Mutation	SNP	G	G	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr16:84014711G>T	ENST00000305202.4	+	5	455	c.438G>T	c.(436-438)aaG>aaT	p.K146N	NECAB2_ENST00000565691.1_Missense_Mutation_p.K63N	NM_019065.2	NP_061938.2	Q7Z6G3	NECA2_HUMAN	N-terminal EF-hand calcium binding protein 2	146						cytoplasm (GO:0005737)	calcium ion binding (GO:0005509)	p.K146N(1)		endometrium(1)|large_intestine(3)|lung(9)|ovary(2)|prostate(1)|stomach(2)|urinary_tract(1)	19						CTGTCCTGAAGGCCATGGGTT	0.557																																						uc002fhd.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(436-438)AAG>AAT		neuronal calcium-binding protein 2							175.0	159.0	164.0					16																	84014711		2200	4300	6500	SO:0001583	missense	54550				antibiotic biosynthetic process	cytoplasm	calcium ion binding|oxidoreductase activity|protein binding	g.chr16:84014711G>T	AY299331	CCDS10940.1	16q23.3-q24.1	2013-01-10	2007-12-06	2007-12-06	ENSG00000103154	ENSG00000103154		"""N-terminal EF-hand calcium binding proteins"", ""EF-hand domain containing"""	23746	protein-coding gene	gene with protein product			"""EF-hand calcium binding protein 2"""	EFCBP2		12044471	Standard	NM_019065		Approved		uc002fhd.3	Q7Z6G3	OTTHUMG00000137636	ENST00000305202.4:c.438G>T	16.37:g.84014711G>T	ENSP00000307449:p.Lys146Asn					NECAB2_uc002fhe.2_Missense_Mutation_p.K63N	p.K146N	NM_019065	NP_061938	Q7Z6G3	NECA2_HUMAN			5	455	+			146					A2RRG3|O75547|Q6ZSK0	Missense_Mutation	SNP	ENST00000305202.4	37	c.438G>T	CCDS10940.1	.	.	.	.	.	.	.	.	.	.	G	16.28	3.078776	0.55753	.	.	ENSG00000103154	ENST00000305202	T	0.20463	2.07	4.44	3.48	0.39840	.	0.116424	0.56097	D	0.000022	T	0.38957	0.1060	M	0.70842	2.15	0.47037	D	0.999298	D	0.76494	0.999	D	0.70716	0.97	T	0.14227	-1.0480	10	0.62326	D	0.03	-18.2236	6.2408	0.20789	0.0979:0.0:0.7186:0.1836	.	146	Q7Z6G3	NECA2_HUMAN	N	146	ENSP00000307449:K146N	ENSP00000307449:K146N	K	+	3	2	NECAB2	82572212	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	1.186000	0.32078	0.843000	0.35070	0.561000	0.74099	AAG		PASS	0.557	NECAB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269077.2	NM_019065		97	78	97	78	---	---	---	---
NECAB2	54550	broad.mit.edu	37	16	84027924	84027924	+	Missense_Mutation	SNP	C	C	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr16:84027924C>A	ENST00000305202.4	+	7	631	c.614C>A	c.(613-615)cCc>cAc	p.P205H	NECAB2_ENST00000567703.1_3'UTR|NECAB2_ENST00000565691.1_Missense_Mutation_p.P122H	NM_019065.2	NP_061938.2	Q7Z6G3	NECA2_HUMAN	N-terminal EF-hand calcium binding protein 2	205						cytoplasm (GO:0005737)	calcium ion binding (GO:0005509)	p.P205H(1)		endometrium(1)|large_intestine(3)|lung(9)|ovary(2)|prostate(1)|stomach(2)|urinary_tract(1)	19						CACATCAAACCCAGCCACAGC	0.572																																						uc002fhd.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(613-615)CCC>CAC		neuronal calcium-binding protein 2							73.0	68.0	70.0					16																	84027924		2200	4300	6500	SO:0001583	missense	54550				antibiotic biosynthetic process	cytoplasm	calcium ion binding|oxidoreductase activity|protein binding	g.chr16:84027924C>A	AY299331	CCDS10940.1	16q23.3-q24.1	2013-01-10	2007-12-06	2007-12-06	ENSG00000103154	ENSG00000103154		"""N-terminal EF-hand calcium binding proteins"", ""EF-hand domain containing"""	23746	protein-coding gene	gene with protein product			"""EF-hand calcium binding protein 2"""	EFCBP2		12044471	Standard	NM_019065		Approved		uc002fhd.3	Q7Z6G3	OTTHUMG00000137636	ENST00000305202.4:c.614C>A	16.37:g.84027924C>A	ENSP00000307449:p.Pro205His					NECAB2_uc002fhe.2_Missense_Mutation_p.P122H	p.P205H	NM_019065	NP_061938	Q7Z6G3	NECA2_HUMAN			7	631	+			205					A2RRG3|O75547|Q6ZSK0	Missense_Mutation	SNP	ENST00000305202.4	37	c.614C>A	CCDS10940.1	.	.	.	.	.	.	.	.	.	.	C	15.17	2.753837	0.49362	.	.	ENSG00000103154	ENST00000305202	T	0.19938	2.11	4.52	4.52	0.55395	.	1.028390	0.07739	N	0.946591	T	0.32526	0.0832	M	0.69358	2.11	0.09310	N	1	D	0.56521	0.976	P	0.46975	0.533	T	0.24297	-1.0164	10	0.72032	D	0.01	-9.9685	11.6606	0.51345	0.1766:0.8234:0.0:0.0	.	205	Q7Z6G3	NECA2_HUMAN	H	205	ENSP00000307449:P205H	ENSP00000307449:P205H	P	+	2	0	NECAB2	82585425	0.010000	0.17322	0.012000	0.15200	0.174000	0.22865	2.398000	0.44486	2.200000	0.70718	0.655000	0.94253	CCC		PASS	0.572	NECAB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269077.2	NM_019065		19	28	19	28	---	---	---	---
FOXF1	2294	broad.mit.edu	37	16	86544788	86544788	+	Missense_Mutation	SNP	G	G	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr16:86544788G>A	ENST00000262426.4	+	1	656	c.613G>A	c.(613-615)Ggc>Agc	p.G205S	FENDRR_ENST00000595886.1_lincRNA	NM_001451.2	NP_001442.2	Q12946	FOXF1_HUMAN	forkhead box F1	205					blood vessel development (GO:0001568)|branching involved in open tracheal system development (GO:0060446)|cardiac left ventricle morphogenesis (GO:0003214)|cellular response to cytokine stimulus (GO:0071345)|cellular response to organic cyclic compound (GO:0071407)|detection of wounding (GO:0014822)|determination of left/right symmetry (GO:0007368)|digestive tract development (GO:0048565)|ductus arteriosus closure (GO:0097070)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic ectodermal digestive tract morphogenesis (GO:0048613)|embryonic foregut morphogenesis (GO:0048617)|endocardial cushion development (GO:0003197)|epithelial cell differentiation involved in mammary gland alveolus development (GO:0061030)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|establishment of epithelial cell apical/basal polarity (GO:0045198)|extracellular matrix organization (GO:0030198)|heart development (GO:0007507)|in utero embryonic development (GO:0001701)|lateral mesodermal cell differentiation (GO:0048371)|lung alveolus development (GO:0048286)|lung development (GO:0030324)|lung lobe morphogenesis (GO:0060463)|lung vasculature development (GO:0060426)|mesenchyme migration (GO:0090131)|midgut development (GO:0007494)|morphogenesis of a branching structure (GO:0001763)|negative regulation of inflammatory response (GO:0050728)|negative regulation of mast cell degranulation (GO:0043305)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|pancreas development (GO:0031016)|positive regulation of cell migration (GO:0030335)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of smooth muscle cell differentiation (GO:0051150)|renal system development (GO:0072001)|respiratory tube development (GO:0030323)|right lung morphogenesis (GO:0060461)|single organismal cell-cell adhesion (GO:0016337)|smooth muscle cell differentiation (GO:0051145)|smoothened signaling pathway (GO:0007224)|somitogenesis (GO:0001756)|trachea development (GO:0060438)|ureter development (GO:0072189)|vasculogenesis (GO:0001570)|venous blood vessel development (GO:0060841)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding (GO:0043565)	p.G180S(1)		autonomic_ganglia(1)|breast(1)|endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|urinary_tract(1)	12						CAACGTGGACGGCATGGCCCT	0.746																																						uc002fjl.2																			1	Substitution - Missense(1)		lung(1)		0						c.(613-615)GGC>AGC		forkhead box F1							5.0	5.0	5.0					16																	86544788		1938	3899	5837	SO:0001583	missense	2294				branching involved in open tracheal system development|cardiac left ventricle morphogenesis|embryonic ectodermal digestive tract morphogenesis|endocardial cushion development|in utero embryonic development|lung vasculature development|midgut development|pancreas development|positive regulation of transcription, DNA-dependent|regulation of sequence-specific DNA binding transcription factor activity|ureter development|venous blood vessel development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription factor binding	g.chr16:86544788G>A	U13219	CCDS10957.2	16q24	2008-02-05			ENSG00000103241	ENSG00000103241		"""Forkhead boxes"""	3809	protein-coding gene	gene with protein product		601089		FKHL5		8825632, 7957066	Standard	NM_001451		Approved	FREAC1	uc002fjl.3	Q12946	OTTHUMG00000137651	ENST00000262426.4:c.613G>A	16.37:g.86544788G>A	ENSP00000262426:p.Gly205Ser					uc002fjk.1_5'Flank	p.G205S	NM_001451	NP_001442	Q12946	FOXF1_HUMAN			1	656	+			205					B2RAF4|Q5FWE5	Missense_Mutation	SNP	ENST00000262426.4	37	c.613G>A	CCDS10957.2	.	.	.	.	.	.	.	.	.	.	G	21.5	4.158951	0.78226	.	.	ENSG00000103241	ENST00000262426	D	0.96168	-3.93	4.3	3.34	0.38264	.	0.473686	0.22667	N	0.057107	D	0.93161	0.7822	L	0.41824	1.3	0.53005	D	0.999968	D	0.69078	0.997	P	0.50049	0.629	D	0.89664	0.3879	10	0.24483	T	0.36	.	10.8057	0.46516	0.0939:0.0:0.9061:0.0	.	205	Q12946	FOXF1_HUMAN	S	205	ENSP00000262426:G205S	ENSP00000262426:G205S	G	+	1	0	FOXF1	85102289	0.855000	0.29742	1.000000	0.80357	0.976000	0.68499	0.870000	0.28010	0.782000	0.33613	0.650000	0.86243	GGC		PASS	0.746	FOXF1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000269103.2	NM_001451		2	2	2	2	---	---	---	---
FOXC2	2303	broad.mit.edu	37	16	86602427	86602427	+	Missense_Mutation	SNP	T	T	C			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr16:86602427T>C	ENST00000320354.4	+	1	1571	c.1486T>C	c.(1486-1488)Tac>Cac	p.Y496H	RP11-463O9.5_ENST00000563280.1_RNA	NM_005251.2	NP_005242.1	Q99958	FOXC2_HUMAN	forkhead box C2 (MFH-1, mesenchyme forkhead 1)	496					artery morphogenesis (GO:0048844)|blood vessel remodeling (GO:0001974)|camera-type eye development (GO:0043010)|cardiac muscle cell proliferation (GO:0060038)|collagen fibril organization (GO:0030199)|embryonic heart tube development (GO:0035050)|embryonic viscerocranium morphogenesis (GO:0048703)|glomerular endothelium development (GO:0072011)|glomerular mesangial cell development (GO:0072144)|glomerular visceral epithelial cell differentiation (GO:0072112)|heart development (GO:0007507)|insulin receptor signaling pathway (GO:0008286)|lymphangiogenesis (GO:0001946)|mesoderm development (GO:0007498)|metanephros development (GO:0001656)|negative regulation of apoptotic process involved in outflow tract morphogenesis (GO:1902257)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural crest cell development (GO:0014032)|Notch signaling pathway (GO:0007219)|ossification (GO:0001503)|paraxial mesodermal cell fate commitment (GO:0048343)|patterning of blood vessels (GO:0001569)|positive regulation of cell adhesion mediated by integrin (GO:0033630)|positive regulation of cell migration involved in sprouting angiogenesis (GO:0090050)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of vascular wound healing (GO:0035470)|regulation of blood vessel size (GO:0050880)|regulation of organ growth (GO:0046620)|response to hormone (GO:0009725)|somitogenesis (GO:0001756)|ureteric bud development (GO:0001657)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	nucleus (GO:0005634)	chromatin DNA binding (GO:0031490)|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 distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)	p.Y496H(1)		breast(1)|cervix(1)|endometrium(2)|kidney(1)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	15						CCCCTACTCCTACGACTGCAC	0.657									Late-onset Hereditary Lymphedema																													uc002fjq.2																			1	Substitution - Missense(1)		lung(1)		0						c.(1486-1488)TAC>CAC		forkhead box C2							25.0	24.0	24.0					16																	86602427		2080	4150	6230	SO:0001583	missense	2303	Late-onset_Hereditary_Lymphedema	Familial Cancer Database	Hereditary Lymphedema type II, Meige Lymphedema	anti-apoptosis|artery morphogenesis|blood vessel remodeling|camera-type eye development|cardiac muscle cell proliferation|collagen fibril organization|embryonic heart tube development|embryonic viscerocranium morphogenesis|insulin receptor signaling pathway|lymphangiogenesis|metanephros development|negative regulation of transcription from RNA polymerase II promoter|neural crest cell fate commitment|Notch signaling pathway|ossification|paraxial mesodermal cell fate commitment|patterning of blood vessels|positive regulation of cell adhesion mediated by integrin|positive regulation of cell migration involved in sprouting angiogenesis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of vascular wound healing|regulation of blood vessel size|regulation of organ growth|regulation of sequence-specific DNA binding transcription factor activity|somitogenesis|ureteric bud development|vascular endothelial growth factor receptor signaling pathway|vasculogenesis|ventricular cardiac muscle tissue morphogenesis	transcription factor complex	chromatin DNA binding|DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription factor binding|transcription regulatory region DNA binding	g.chr16:86602427T>C	Y08223	CCDS10958.1	16q24.1	2008-04-10			ENSG00000176692	ENSG00000176692		"""Forkhead boxes"""	3801	protein-coding gene	gene with protein product		602402		FKHL14		9169153, 8674414	Standard	NM_005251		Approved	MFH-1	uc002fjq.3	Q99958	OTTHUMG00000137652	ENST00000320354.4:c.1486T>C	16.37:g.86602427T>C	ENSP00000326371:p.Tyr496His						p.Y496H	NM_005251	NP_005242	Q99958	FOXC2_HUMAN			1	1571	+			496					C6KMR9|Q14DA6	Missense_Mutation	SNP	ENST00000320354.4	37	c.1486T>C	CCDS10958.1	.	.	.	.	.	.	.	.	.	.	T	17.12	3.308060	0.60305	.	.	ENSG00000176692	ENST00000320354	D	0.83335	-1.71	4.88	4.88	0.63580	.	0.000000	0.50627	U	0.000112	D	0.86155	0.5865	L	0.39245	1.2	0.47737	D	0.999501	D	0.69078	0.997	D	0.66196	0.942	D	0.87634	0.2518	10	0.87932	D	0	.	13.2953	0.60294	0.0:0.0:0.0:1.0	.	496	Q99958	FOXC2_HUMAN	H	496	ENSP00000326371:Y496H	ENSP00000326371:Y496H	Y	+	1	0	FOXC2	85159928	1.000000	0.71417	1.000000	0.80357	0.446000	0.32137	7.394000	0.79862	1.802000	0.52723	0.379000	0.24179	TAC		PASS	0.657	FOXC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269104.2	NM_005251		20	22	20	22	---	---	---	---
MYO1C	4641	broad.mit.edu	37	17	1382019	1382019	+	Missense_Mutation	SNP	G	G	A	rs139543770	byFrequency	TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr17:1382019G>A	ENST00000575158.1	-	10	1174	c.998C>T	c.(997-999)cCg>cTg	p.P333L	MYO1C_ENST00000359786.5_Missense_Mutation_p.P368L|MYO1C_ENST00000438665.2_Missense_Mutation_p.P349L|MYO1C_ENST00000545534.2_Missense_Mutation_p.P344L|MYO1C_ENST00000361007.2_Missense_Mutation_p.P333L|MYO1C_ENST00000573198.1_5'UTR			Q12965	MYO1E_HUMAN	myosin IC	342	Myosin motor.				actin filament-based movement (GO:0030048)|ATP catabolic process (GO:0006200)|endocytosis (GO:0006897)|glomerular basement membrane development (GO:0032836)|glomerular filtration (GO:0003094)|glomerular visceral epithelial cell development (GO:0072015)|in utero embryonic development (GO:0001701)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|post-embryonic hemopoiesis (GO:0035166)|vasculogenesis (GO:0001570)	actin cytoskeleton (GO:0015629)|adherens junction (GO:0005912)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|ATPase activity, coupled (GO:0042623)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)|motor activity (GO:0003774)|phosphatidylinositol binding (GO:0035091)	p.P333L(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|liver(2)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	17				UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)		CAGGTTCAGCGGGCTCAGGAG	0.632																																						uc002fsp.2																			1	Substitution - Missense(1)		lung(1)		0						c.(1102-1104)CCG>CTG		myosin IC isoform a		G	LEU/PRO,LEU/PRO,LEU/PRO	5,4401	8.1+/-20.4	0,5,2198	80.0	68.0	72.0		1103,1046,998	5.7	1.0	17	dbSNP_134	72	0,8600		0,0,4300	no	missense,missense,missense	MYO1C	NM_001080779.1,NM_001080950.1,NM_033375.4	98,98,98	0,5,6498	AA,AG,GG		0.0,0.1135,0.0384	probably-damaging,probably-damaging,probably-damaging	368/1064,349/1045,333/1029	1382019	5,13001	2203	4300	6503	SO:0001583	missense	4641				mRNA transport|protein transport|transmembrane transport	basal plasma membrane|cytoplasm|filamentous actin|lateral plasma membrane|nuclear pore|nucleolus|nucleoplasm|stereocilium membrane	actin binding|ATP binding|calmodulin binding|motor activity	g.chr17:1382019G>A	X98507	CCDS11003.1, CCDS42226.1, CCDS45562.1	17p13.3	2011-09-27			ENSG00000197879	ENSG00000197879		"""Myosins / Myosin superfamily : Class I"""	7597	protein-coding gene	gene with protein product		606538				9119401	Standard	NM_001080779		Approved	myr2	uc002fsp.3	O00159	OTTHUMG00000090323	ENST00000575158.1:c.998C>T	17.37:g.1382019G>A	ENSP00000459174:p.Pro333Leu					MYO1C_uc002fsn.2_Missense_Mutation_p.P349L|MYO1C_uc002fso.2_Missense_Mutation_p.P333L|MYO1C_uc010vqj.1_Missense_Mutation_p.P333L|MYO1C_uc010vqk.1_Missense_Mutation_p.P344L	p.P368L	NM_001080779	NP_001074248	O00159	MYO1C_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)	10	1323	-			368			Myosin head-like.		Q14778	Missense_Mutation	SNP	ENST00000575158.1	37	c.1103C>T	CCDS11003.1	.	.	.	.	.	.	.	.	.	.	G	35	5.520555	0.96416	0.001135	0.0	ENSG00000197879	ENST00000359786;ENST00000438665;ENST00000535856;ENST00000361007;ENST00000545534;ENST00000535421	D;D;D;D	0.87491	-2.26;-2.26;-2.26;-2.26	5.69	5.69	0.88448	Myosin head, motor domain (2);	0.000000	0.85682	D	0.000000	D	0.95133	0.8423	M	0.91300	3.195	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.997;1.0	D	0.95674	0.8726	10	0.87932	D	0	.	18.7983	0.92005	0.0:0.0:1.0:0.0	.	344;368;349	B7Z3E5;O00159;O00159-3	.;MYO1C_HUMAN;.	L	368;349;349;333;344;333	ENSP00000352834:P368L;ENSP00000412197:P349L;ENSP00000354283:P333L;ENSP00000437685:P344L	ENSP00000352834:P368L	P	-	2	0	MYO1C	1328769	1.000000	0.71417	0.964000	0.40570	0.968000	0.65278	9.631000	0.98424	2.696000	0.92011	0.655000	0.94253	CCG		PASS	0.632	MYO1C-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438694.2			48	42	48	42	---	---	---	---
OR1A1	8383	broad.mit.edu	37	17	3119405	3119405	+	Missense_Mutation	SNP	C	C	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr17:3119405C>A	ENST00000304094.1	+	1	491	c.491C>A	c.(490-492)gCt>gAt	p.A164D		NM_014565.2	NP_055380.2	Q9P1Q5	OR1A1_HUMAN	olfactory receptor, family 1, subfamily A, member 1	164						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.A164D(1)		NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	23						CTGCTCACAGCTAGTCTGTCC	0.488																																						uc010vrc.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(490-492)GCT>GAT		olfactory receptor, family 1, subfamily A,							152.0	131.0	138.0					17																	3119405		2203	4300	6503	SO:0001583	missense	8383				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr17:3119405C>A	AF087918	CCDS11022.1	17p13.3	2012-08-09			ENSG00000172146	ENSG00000172146		"""GPCR / Class A : Olfactory receptors"""	8179	protein-coding gene	gene with protein product						10673334	Standard	NM_014565		Approved	OR17-7	uc010vrc.2	Q9P1Q5	OTTHUMG00000090637	ENST00000304094.1:c.491C>A	17.37:g.3119405C>A	ENSP00000305207:p.Ala164Asp						p.A164D	NM_014565	NP_055380	Q9P1Q5	OR1A1_HUMAN			1	491	+			164			Extracellular (Potential).		A5D914|Q6IFM1|Q6NTA9|Q96R87	Missense_Mutation	SNP	ENST00000304094.1	37	c.491C>A	CCDS11022.1	.	.	.	.	.	.	.	.	.	.	C	17.32	3.360481	0.61403	.	.	ENSG00000172146	ENST00000304094	T	0.00137	8.68	4.96	3.94	0.45596	GPCR, rhodopsin-like superfamily (1);	0.000000	0.51477	D	0.000100	T	0.00300	0.0009	M	0.73598	2.24	0.09310	N	0.999997	D	0.53745	0.962	P	0.57846	0.828	T	0.45454	-0.9260	10	0.49607	T	0.09	.	4.5039	0.11878	0.1913:0.6438:0.0:0.1649	.	164	Q9P1Q5	OR1A1_HUMAN	D	164	ENSP00000305207:A164D	ENSP00000305207:A164D	A	+	2	0	OR1A1	3066155	0.000000	0.05858	0.961000	0.40146	0.970000	0.65996	-0.259000	0.08721	2.584000	0.87258	0.436000	0.28706	GCT		PASS	0.488	OR1A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207292.1	NM_014565		62	40	62	40	---	---	---	---
ZMYND15	84225	broad.mit.edu	37	17	4644069	4644069	+	Nonsense_Mutation	SNP	G	G	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr17:4644069G>T	ENST00000433935.1	+	2	283	c.226G>T	c.(226-228)Gaa>Taa	p.E76*	ZMYND15_ENST00000592813.1_Nonsense_Mutation_p.E76*|CXCL16_ENST00000574412.1_5'Flank|CXCL16_ENST00000293778.6_5'Flank|ZMYND15_ENST00000573751.2_Nonsense_Mutation_p.E76*|ZMYND15_ENST00000269289.6_Nonsense_Mutation_p.E76*	NM_001136046.2|NM_001267822.1	NP_001129518.1|NP_001254751.1	Q9H091	ZMY15_HUMAN	zinc finger, MYND-type containing 15	76					negative regulation of transcription, DNA-templated (GO:0045892)|spermatid development (GO:0007286)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)	p.E76*(2)		endometrium(5)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|skin(2)	18						GCAAGGGGCAGAACCAGGTCC	0.637																																						uc002fyt.2																			2	Substitution - Nonsense(2)		lung(2)		0						c.(226-228)GAA>TAA		zinc finger, MYND-type containing 15 isoform 2							28.0	29.0	29.0					17																	4644069		2203	4300	6503	SO:0001587	stop_gained	84225						zinc ion binding	g.chr17:4644069G>T	AL136893	CCDS11053.1, CCDS45584.1, CCDS58506.1	17p13.3	2008-05-02			ENSG00000141497	ENSG00000141497		"""Zinc fingers, MYND-type"""	20997	protein-coding gene	gene with protein product		614312				11230166	Standard	NM_001136046		Approved	DKFZp434N127	uc002fyu.3	Q9H091	OTTHUMG00000090760	ENST00000433935.1:c.226G>T	17.37:g.4644069G>T	ENSP00000391742:p.Glu76*					CXCL16_uc002fyr.3_5'Flank|CXCL16_uc002fys.3_5'Flank|ZMYND15_uc002fyv.2_Nonsense_Mutation_p.E76*|ZMYND15_uc002fyu.2_Nonsense_Mutation_p.E76*	p.E76*	NM_032265	NP_115641	Q9H091	ZMY15_HUMAN			2	265	+			76					B4DXY5|I3L296	Nonsense_Mutation	SNP	ENST00000433935.1	37	c.226G>T	CCDS45584.1	.	.	.	.	.	.	.	.	.	.	G	34	5.385530	0.95967	.	.	ENSG00000141497	ENST00000433935;ENST00000269289	.	.	.	5.17	4.14	0.48551	.	0.114985	0.39274	N	0.001401	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.45353	T	0.12	-23.2115	7.7836	0.29078	0.1139:0.0:0.8861:0.0	.	.	.	.	X	76	.	ENSP00000269289:E76X	E	+	1	0	ZMYND15	4590818	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.629000	0.54266	2.692000	0.91855	0.655000	0.94253	GAA		PASS	0.637	ZMYND15-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439580.1	NM_032265		21	14	21	14	---	---	---	---
WSCD1	23302	broad.mit.edu	37	17	6021442	6021442	+	Missense_Mutation	SNP	G	G	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr17:6021442G>T	ENST00000574946.1	+	8	1699	c.1309G>T	c.(1309-1311)Gca>Tca	p.A437S	WSCD1_ENST00000573634.1_Missense_Mutation_p.A321S|WSCD1_ENST00000574232.1_Missense_Mutation_p.A437S|WSCD1_ENST00000539421.1_Missense_Mutation_p.A437S|WSCD1_ENST00000317744.5_Missense_Mutation_p.A437S			Q658N2	WSCD1_HUMAN	WSC domain containing 1	437						integral component of membrane (GO:0016021)	sulfotransferase activity (GO:0008146)	p.A437S(1)		breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|prostate(1)	35						GTCCCTGGTGGCAGAATTCAA	0.542																																						uc010cli.2																			1	Substitution - Missense(1)		lung(1)		0						c.(1309-1311)GCA>TCA		WSC domain containing 1							55.0	55.0	55.0					17																	6021442		2203	4300	6503	SO:0001583	missense	23302					integral to membrane	sulfotransferase activity	g.chr17:6021442G>T		CCDS32538.1	17p13.2	2008-02-05				ENSG00000179314			29060	protein-coding gene	gene with protein product							Standard	XM_005256572		Approved	KIAA0523	uc002gcn.3	Q658N2		ENST00000574946.1:c.1309G>T	17.37:g.6021442G>T	ENSP00000460825:p.Ala437Ser					WSCD1_uc002gcn.2_Missense_Mutation_p.A437S|WSCD1_uc002gco.2_Missense_Mutation_p.A437S|WSCD1_uc010clj.2_Missense_Mutation_p.A128S	p.A437S	NM_015253	NP_056068	Q658N2	WSCD1_HUMAN			8	1688	+			437					A8K0N8|D3DTM3|O60276|Q96G45	Missense_Mutation	SNP	ENST00000574946.1	37	c.1309G>T	CCDS32538.1	.	.	.	.	.	.	.	.	.	.	G	18.81	3.702116	0.68501	.	.	ENSG00000179314	ENST00000317744;ENST00000539421	T;T	0.26957	1.7;1.7	5.47	5.47	0.80525	Sulfotransferase domain (1);	0.000000	0.85682	D	0.000000	T	0.41673	0.1169	L	0.38953	1.18	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.06180	-1.0841	10	0.33940	T	0.23	-14.9306	16.8089	0.85713	0.0:0.0:1.0:0.0	.	437	Q658N2	WSCD1_HUMAN	S	437	ENSP00000323087:A437S;ENSP00000446032:A437S	ENSP00000323087:A437S	A	+	1	0	WSCD1	5962166	1.000000	0.71417	0.994000	0.49952	0.453000	0.32348	9.464000	0.97655	2.583000	0.87209	0.655000	0.94253	GCA		PASS	0.542	WSCD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438965.4	NM_015253		33	23	33	23	---	---	---	---
PITPNM3	83394	broad.mit.edu	37	17	6373627	6373627	+	Missense_Mutation	SNP	C	C	G			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr17:6373627C>G	ENST00000262483.8	-	13	1813	c.1726G>C	c.(1726-1728)Gcc>Ccc	p.A576P	PITPNM3_ENST00000421306.3_Missense_Mutation_p.A540P|PITPNM3_ENST00000576664.1_5'UTR	NM_031220.3	NP_112497.2	Q9BZ71	PITM3_HUMAN	PITPNM family member 3	576	DDHD. {ECO:0000255|PROSITE- ProRule:PRU00378}.				phosphatidylinositol metabolic process (GO:0046488)|phospholipid transport (GO:0015914)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)	calcium ion binding (GO:0005509)|lipid binding (GO:0008289)|phosphatidylinositol transporter activity (GO:0008526)|receptor tyrosine kinase binding (GO:0030971)	p.A576P(1)		autonomic_ganglia(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|prostate(3)|skin(2)	36				Colorectal(2;0.000372)|READ - Rectum adenocarcinoma(2;0.0276)|LUAD - Lung adenocarcinoma(2;0.0836)|COAD - Colon adenocarcinoma(228;0.185)		CAGTAACTGGCGTGGAAGAGG	0.647																																						uc002gdd.3																			1	Substitution - Missense(1)		lung(1)	ovary(2)|central_nervous_system(2)	4						c.(1726-1728)GCC>CCC		PITPNM family member 3 isoform 1							97.0	68.0	78.0					17																	6373627		2203	4300	6503	SO:0001583	missense	83394				phosphatidylinositol metabolic process	endomembrane system|integral to membrane	calcium ion binding|lipid binding|phosphatidylinositol transporter activity|receptor tyrosine kinase binding	g.chr17:6373627C>G	AF334586	CCDS11076.1, CCDS54080.1	17p13	2013-07-18	2013-07-18	2013-07-18	ENSG00000091622	ENSG00000091622		"""GPCR / Class A : Chemokine receptors : Atypical"""	21043	protein-coding gene	gene with protein product	"""atypical chemokine receptor 6"""	608921	"""cone rod dystrophy 5"""	CORD5		10022914	Standard	NM_031220		Approved	NIR1, RDGBA3, ACKR6	uc002gdd.4	Q9BZ71	OTTHUMG00000102039	ENST00000262483.8:c.1726G>C	17.37:g.6373627C>G	ENSP00000262483:p.Ala576Pro					PITPNM3_uc010cln.2_Missense_Mutation_p.A540P|PITPNM3_uc010clm.2_Missense_Mutation_p.A59P|PITPNM3_uc002gdc.3_Missense_Mutation_p.A167P	p.A576P	NM_031220	NP_112497	Q9BZ71	PITM3_HUMAN		Colorectal(2;0.000372)|READ - Rectum adenocarcinoma(2;0.0276)|LUAD - Lung adenocarcinoma(2;0.0836)|COAD - Colon adenocarcinoma(228;0.185)	13	1877	-			576			DDHD.		A1A5D0|F8WEW5|Q59GH9|Q9NPQ4	Missense_Mutation	SNP	ENST00000262483.8	37	c.1726G>C	CCDS11076.1	.	.	.	.	.	.	.	.	.	.	C	33	5.260071	0.95368	.	.	ENSG00000091622	ENST00000262483;ENST00000421306	T;T	0.52526	0.66;0.66	4.65	4.65	0.58169	DDHD (2);	0.054540	0.64402	D	0.000001	T	0.69949	0.3168	M	0.80332	2.49	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	T	0.74699	-0.3577	10	0.87932	D	0	-28.0994	15.4169	0.74977	0.0:1.0:0.0:0.0	.	540;576	F8WEW5;Q9BZ71	.;PITM3_HUMAN	P	576;540	ENSP00000262483:A576P;ENSP00000407882:A540P	ENSP00000262483:A576P	A	-	1	0	PITPNM3	6314351	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.651000	0.83577	2.576000	0.86940	0.563000	0.77884	GCC		PASS	0.647	PITPNM3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000219824.2	NM_031220		16	11	16	11	---	---	---	---
TP53	7157	broad.mit.edu	37	17	7578440	7578440	+	Missense_Mutation	SNP	T	T	C			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr17:7578440T>C	ENST00000269305.4	-	5	679	c.490A>G	c.(490-492)Aag>Gag	p.K164E	TP53_ENST00000420246.2_Missense_Mutation_p.K164E|TP53_ENST00000445888.2_Missense_Mutation_p.K164E|TP53_ENST00000455263.2_Missense_Mutation_p.K164E|TP53_ENST00000413465.2_Missense_Mutation_p.K164E|TP53_ENST00000359597.4_Missense_Mutation_p.K164E|TP53_ENST00000574684.1_5'Flank	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	164	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		K -> E (in sporadic cancers; somatic mutation).|K -> M (in sporadic cancers; somatic mutation).|K -> N (in sporadic cancers; somatic mutation).|K -> Q (in sporadic cancers; somatic mutation).|K -> R (in sporadic cancers; somatic mutation).|K -> T (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.K164E(15)|p.K164*(11)|p.0?(8)|p.K164Q(2)|p.K164fs*6(2)|p.K164fs*3(2)|p.V157_C176del20(1)|p.Y163fs*1(1)|p.Y163_Q165delYKQ(1)|p.P151_V173del23(1)|p.K164fs*5(1)|p.K71E(1)|p.K164fs*17(1)|p.Y163fs*14(1)|p.S149fs*72(1)|p.A159_Q167delAMAIYKQSQ(1)|p.K32E(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)	TGTGACTGCTTGTAGATGGCC	0.627		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	uc002gim.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	Mis|N|F	tumor protein p53			"""L, E, M, O"""		breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types	breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types		51	Substitution - Missense(19)|Substitution - Nonsense(11)|Deletion - Frameshift(8)|Whole gene deletion(8)|Deletion - In frame(4)|Insertion - Frameshift(1)	p.K164E(12)|p.K164*(9)|p.0?(7)|p.K164N(6)|p.K164M(4)|p.K164K(2)|p.K164fs*5(2)|p.K164Q(2)|p.K164fs*6(2)|p.K164fs*3(2)|p.K164T(2)|p.V157_C176del20(1)|p.K164_P219del(1)|p.Y163fs*1(1)|p.Y163_Q165delYKQ(1)|p.P151_V173del23(1)|p.S149fs*72(1)|p.K164_Q165insXXX(1)|p.K164fs*17(1)|p.K164R(1)|p.Y163fs*14(1)|p.A159_Q167delAMAIYKQSQ(1)	lung(12)|central_nervous_system(6)|bone(5)|urinary_tract(4)|breast(4)|oesophagus(4)|upper_aerodigestive_tract(3)|large_intestine(3)|ovary(3)|liver(3)|stomach(2)|haematopoietic_and_lymphoid_tissue(1)|pancreas(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						c.(490-492)AAG>GAG	Other_conserved_DNA_damage_response_genes	tumor protein p53 isoform a							54.0	54.0	54.0					17																	7578440		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.chr17:7578440T>C	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.490A>G	17.37:g.7578440T>C	ENSP00000269305:p.Lys164Glu	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.K164E|TP53_uc002gih.2_Missense_Mutation_p.K164E|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.K32E|TP53_uc010cng.1_Missense_Mutation_p.K32E|TP53_uc002gii.1_Missense_Mutation_p.K32E|TP53_uc010cnh.1_Missense_Mutation_p.K164E|TP53_uc010cni.1_Missense_Mutation_p.K164E|TP53_uc002gij.2_Missense_Mutation_p.K164E|TP53_uc010cnj.1_RNA|TP53_uc002gin.2_Missense_Mutation_p.K71E|TP53_uc002gio.2_Missense_Mutation_p.K32E|TP53_uc010vug.1_Missense_Mutation_p.K125E	p.K164E	NM_001126112	NP_001119584	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	5	684	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	164		K -> E (in sporadic cancers; somatic mutation).|K -> R (in sporadic cancers; somatic mutation).|K -> Q (in sporadic cancers; somatic mutation).|K -> M (in sporadic cancers; somatic mutation).|K -> T (in sporadic cancers; somatic mutation).|K -> N (in sporadic cancers; somatic mutation).	Required for interaction with FBXO42.||Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity).		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	c.490A>G	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	T	16.70	3.195088	0.58017	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315;ENST00000508793	D;D;D;D;D;D;D;D;D	0.99784	-6.74;-6.74;-6.74;-6.74;-6.74;-6.74;-6.74;-6.74;-6.74	5.59	4.5	0.54988	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	0.99585	0.9850	M	0.62088	1.915	0.58432	D	0.999992	D;D;D;D;D;P;D	0.89917	0.986;0.996;0.965;0.998;0.997;0.95;1.0	D;D;P;D;D;P;D	0.85130	0.934;0.952;0.76;0.98;0.972;0.9;0.997	D	0.98302	1.0519	10	0.87932	D	0	-15.5455	10.4804	0.44689	0.1456:0.0:0.0:0.8544	.	125;164;164;71;164;164;164	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	E	164;164;164;164;164;164;153;71;32;71;32;164	ENSP00000410739:K164E;ENSP00000352610:K164E;ENSP00000269305:K164E;ENSP00000398846:K164E;ENSP00000391127:K164E;ENSP00000391478:K164E;ENSP00000425104:K32E;ENSP00000423862:K71E;ENSP00000424104:K164E	ENSP00000269305:K164E	K	-	1	0	TP53	7519165	1.000000	0.71417	1.000000	0.80357	0.059000	0.15707	7.996000	0.88334	1.039000	0.40074	-0.336000	0.08194	AAG		PASS	0.627	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		36	34	36	34	---	---	---	---
GUCY2D	3000	broad.mit.edu	37	17	7909797	7909797	+	Missense_Mutation	SNP	C	C	G			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr17:7909797C>G	ENST00000254854.4	+	4	1293	c.1143C>G	c.(1141-1143)caC>caG	p.H381Q		NM_000180.3	NP_000171.1	Q02846	GUC2D_HUMAN	guanylate cyclase 2D, membrane (retina-specific)	381					intracellular signal transduction (GO:0035556)|phototransduction, visible light (GO:0007603)|receptor guanylyl cyclase signaling pathway (GO:0007168)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|rhodopsin mediated signaling pathway (GO:0016056)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|nuclear outer membrane (GO:0005640)|photoreceptor disc membrane (GO:0097381)	ATP binding (GO:0005524)|GTP binding (GO:0005525)|guanylate cyclase activity (GO:0004383)|protein kinase activity (GO:0004672)|receptor activity (GO:0004872)	p.H381Q(1)		skin(1)	1		Prostate(122;0.157)				TGGCCCGCCACATCCGGGATG	0.677																																						uc002gjt.2																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(1141-1143)CAC>CAG		guanylate cyclase 2D, membrane (retina-specific)							28.0	33.0	31.0					17																	7909797		2203	4300	6503	SO:0001583	missense	3000				intracellular signal transduction|receptor guanylyl cyclase signaling pathway|visual perception	integral to plasma membrane|nuclear outer membrane	ATP binding|GTP binding|guanylate cyclase activity|protein kinase activity|receptor activity	g.chr17:7909797C>G	L26921	CCDS11127.1	17p13.1	2013-06-06			ENSG00000132518	ENSG00000132518			4689	protein-coding gene	gene with protein product		600179	"""cone rod dystrophy 6"""	CORD6, LCA, GUC2D, GUC1A4		1356371, 12552567	Standard	NM_000180		Approved	retGC, RETGC-1, ROS-GC1, CYGD, LCA1	uc002gjt.2	Q02846	OTTHUMG00000108169	ENST00000254854.4:c.1143C>G	17.37:g.7909797C>G	ENSP00000254854:p.His381Gln						p.H381Q	NM_000180	NP_000171	Q02846	GUC2D_HUMAN			4	1217	+		Prostate(122;0.157)	381			Extracellular (Potential).		Q6LEA7	Missense_Mutation	SNP	ENST00000254854.4	37	c.1143C>G	CCDS11127.1	.	.	.	.	.	.	.	.	.	.	C	11.86	1.764986	0.31228	.	.	ENSG00000132518	ENST00000254854	D	0.82433	-1.61	5.15	-5.7	0.02421	Extracellular ligand-binding receptor (1);	0.475046	0.17691	N	0.165265	T	0.64951	0.2645	L	0.39397	1.21	0.09310	N	1	B	0.18166	0.026	B	0.22152	0.038	T	0.54735	-0.8249	10	0.15952	T	0.53	.	2.2094	0.03944	0.2286:0.1914:0.0993:0.4807	.	381	Q02846	GUC2D_HUMAN	Q	381	ENSP00000254854:H381Q	ENSP00000254854:H381Q	H	+	3	2	GUCY2D	7850522	0.000000	0.05858	0.000000	0.03702	0.051000	0.14879	-1.330000	0.02675	-1.619000	0.01566	-1.334000	0.01262	CAC		PASS	0.677	GUCY2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226973.2			20	13	20	13	---	---	---	---
ALOX12B	242	broad.mit.edu	37	17	7979605	7979605	+	Missense_Mutation	SNP	G	G	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr17:7979605G>T	ENST00000319144.4	-	11	1680	c.1420C>A	c.(1420-1422)Ctc>Atc	p.L474I	ALOX12B_ENST00000577351.1_5'UTR	NM_001139.2	NP_001130.1	O75342	LX12B_HUMAN	arachidonate 12-lipoxygenase, 12R type	474	Lipoxygenase. {ECO:0000255|PROSITE- ProRule:PRU00726}.				arachidonic acid metabolic process (GO:0019369)|ceramide biosynthetic process (GO:0046513)|establishment of skin barrier (GO:0061436)|hepoxilin biosynthetic process (GO:0051122)|linoleic acid metabolic process (GO:0043651)|lipoxygenase pathway (GO:0019372)|oxidation-reduction process (GO:0055114)|positive regulation of gene expression (GO:0010628)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mucus secretion (GO:0070257)|protein lipidation (GO:0006497)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	cytosol (GO:0005829)	arachidonate 12-lipoxygenase activity (GO:0004052)|iron ion binding (GO:0005506)|linoleate 9S-lipoxygenase activity (GO:1990136)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen (GO:0016702)	p.L474I(1)		endometrium(5)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)|stomach(1)	16						TCATAGGTGAGCTCCGACAGA	0.602										Multiple Myeloma(8;0.094)																												uc002gjy.1																			1	Substitution - Missense(1)		lung(1)		0						c.(1420-1422)CTC>ATC		arachidonate 12-lipoxygenase, 12R type							78.0	63.0	68.0					17																	7979605		2203	4300	6503	SO:0001583	missense	242				epidermis development|leukotriene biosynthetic process		arachidonate 12-lipoxygenase activity|iron ion binding|lipoxygenase activity	g.chr17:7979605G>T	AF038461	CCDS11129.1	17p13.1	2008-03-18			ENSG00000179477	ENSG00000179477	1.13.11.-	"""Arachidonate lipoxygenases"""	430	protein-coding gene	gene with protein product		603741				9618483	Standard	NM_001139		Approved	12R-LOX	uc002gjy.1	O75342	OTTHUMG00000108180	ENST00000319144.4:c.1420C>A	17.37:g.7979605G>T	ENSP00000315167:p.Leu474Ile	Multiple Myeloma(8;0.094)					p.L474I	NM_001139	NP_001130	O75342	LX12B_HUMAN			11	1681	-			474			Lipoxygenase.			Missense_Mutation	SNP	ENST00000319144.4	37	c.1420C>A	CCDS11129.1	.	.	.	.	.	.	.	.	.	.	G	9.578	1.122939	0.20959	.	.	ENSG00000179477	ENST00000319144	T	0.79554	-1.28	5.2	0.305	0.15801	Lipoxygenase, C-terminal (3);	0.935217	0.09089	N	0.850065	T	0.73048	0.3537	L	0.45228	1.405	0.28699	N	0.904157	B	0.12630	0.006	B	0.25614	0.062	T	0.62572	-0.6826	10	0.54805	T	0.06	-3.8887	6.9398	0.24486	0.0:0.1786:0.1854:0.636	.	474	O75342	LX12B_HUMAN	I	474	ENSP00000315167:L474I	ENSP00000315167:L474I	L	-	1	0	ALOX12B	7920330	0.000000	0.05858	0.318000	0.25279	0.414000	0.31173	-0.551000	0.06027	-0.199000	0.10317	0.313000	0.20887	CTC		PASS	0.602	ALOX12B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226984.3			16	23	16	23	---	---	---	---
MYH1	4619	broad.mit.edu	37	17	10405209	10405209	+	Missense_Mutation	SNP	T	T	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr17:10405209T>A	ENST00000226207.5	-	25	3225	c.3131A>T	c.(3130-3132)cAa>cTa	p.Q1044L	RP11-799N11.1_ENST00000399342.2_RNA|CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA	NM_005963.3	NP_005954.3	P12882	MYH1_HUMAN	myosin, heavy chain 1, skeletal muscle, adult	1044					muscle contraction (GO:0006936)	A band (GO:0031672)|cytoplasmic ribonucleoprotein granule (GO:0036464)|intercalated disc (GO:0014704)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|motor activity (GO:0003774)	p.Q1044L(1)		NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						TTTCTTTTCTTGTTCCAAAGA	0.333																																						uc002gmo.2																			1	Substitution - Missense(1)		lung(1)	ovary(10)|skin(6)|breast(3)|upper_aerodigestive_tract(1)|kidney(1)	21						c.(3130-3132)CAA>CTA		myosin, heavy chain 1, skeletal muscle, adult							71.0	61.0	64.0					17																	10405209		2202	4299	6501	SO:0001583	missense	4619					muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity	g.chr17:10405209T>A		CCDS11155.1	17p13.1	2013-09-19	2006-09-29		ENSG00000109061	ENSG00000109061		"""Myosins / Myosin superfamily : Class II"""	7567	protein-coding gene	gene with protein product	"""myosin heavy chain IIx/d"""	160730	"""myosin, heavy polypeptide 1, skeletal muscle, adult"""			6304733	Standard	NM_005963		Approved	MYHSA1, MYHa, MyHC-2X/D, MGC133384	uc002gmo.3	P12882	OTTHUMG00000130362	ENST00000226207.5:c.3131A>T	17.37:g.10405209T>A	ENSP00000226207:p.Gln1044Leu					uc002gml.1_Intron	p.Q1044L	NM_005963	NP_005954	P12882	MYH1_HUMAN			25	3225	-			1044			Potential.		Q14CA4|Q9Y622	Missense_Mutation	SNP	ENST00000226207.5	37	c.3131A>T	CCDS11155.1	.	.	.	.	.	.	.	.	.	.	T	23.7	4.443778	0.83993	.	.	ENSG00000109061	ENST00000226207	D	0.95622	-3.76	5.62	5.62	0.85841	.	0.000000	0.41938	U	0.000785	D	0.94873	0.8343	M	0.82823	2.61	0.80722	D	1	P	0.38473	0.633	B	0.32677	0.15	D	0.95152	0.8273	10	0.66056	D	0.02	.	16.1323	0.81449	0.0:0.0:0.0:1.0	.	1044	P12882	MYH1_HUMAN	L	1044	ENSP00000226207:Q1044L	ENSP00000226207:Q1044L	Q	-	2	0	MYH1	10345934	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.910000	0.87451	2.277000	0.76020	0.528000	0.53228	CAA		PASS	0.333	MYH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252725.1	NM_005963		26	24	26	24	---	---	---	---
MYH1	4619	broad.mit.edu	37	17	10417424	10417424	+	Missense_Mutation	SNP	C	C	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr17:10417424C>T	ENST00000226207.5	-	7	645	c.551G>A	c.(550-552)gGg>gAg	p.G184E	RP11-799N11.1_ENST00000399342.2_RNA|CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA	NM_005963.3	NP_005954.3	P12882	MYH1_HUMAN	myosin, heavy chain 1, skeletal muscle, adult	184	Myosin motor.				muscle contraction (GO:0006936)	A band (GO:0031672)|cytoplasmic ribonucleoprotein granule (GO:0036464)|intercalated disc (GO:0014704)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|motor activity (GO:0003774)	p.G184E(1)		NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						CACAGTCTTCCCTGCGCCAGA	0.433																																						uc002gmo.2																			1	Substitution - Missense(1)		lung(1)	ovary(10)|skin(6)|breast(3)|upper_aerodigestive_tract(1)|kidney(1)	21						c.(550-552)GGG>GAG		myosin, heavy chain 1, skeletal muscle, adult							98.0	89.0	92.0					17																	10417424		2203	4300	6503	SO:0001583	missense	4619					muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity	g.chr17:10417424C>T		CCDS11155.1	17p13.1	2013-09-19	2006-09-29		ENSG00000109061	ENSG00000109061		"""Myosins / Myosin superfamily : Class II"""	7567	protein-coding gene	gene with protein product	"""myosin heavy chain IIx/d"""	160730	"""myosin, heavy polypeptide 1, skeletal muscle, adult"""			6304733	Standard	NM_005963		Approved	MYHSA1, MYHa, MyHC-2X/D, MGC133384	uc002gmo.3	P12882	OTTHUMG00000130362	ENST00000226207.5:c.551G>A	17.37:g.10417424C>T	ENSP00000226207:p.Gly184Glu					uc002gml.1_Intron	p.G184E	NM_005963	NP_005954	P12882	MYH1_HUMAN			7	645	-			184			Myosin head-like.|ATP (Potential).		Q14CA4|Q9Y622	Missense_Mutation	SNP	ENST00000226207.5	37	c.551G>A	CCDS11155.1	.	.	.	.	.	.	.	.	.	.	C	27.8	4.861979	0.91433	.	.	ENSG00000109061	ENST00000226207;ENST00000379814	D	0.95001	-3.58	5.18	5.18	0.71444	Myosin head, motor domain (3);	0.000000	0.41712	U	0.000832	D	0.98937	0.9639	H	0.99962	5.075	0.80722	D	1	D	0.76494	0.999	D	0.91635	0.999	D	0.98925	1.0785	10	0.87932	D	0	.	19.0595	0.93081	0.0:1.0:0.0:0.0	.	184	P12882	MYH1_HUMAN	E	184	ENSP00000226207:G184E	ENSP00000226207:G184E	G	-	2	0	MYH1	10358149	1.000000	0.71417	0.991000	0.47740	0.988000	0.76386	7.753000	0.85153	2.555000	0.86185	0.655000	0.94253	GGG		PASS	0.433	MYH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252725.1	NM_005963		43	45	43	45	---	---	---	---
MYH3	4621	broad.mit.edu	37	17	10541398	10541398	+	Missense_Mutation	SNP	C	C	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr17:10541398C>A	ENST00000583535.1	-	27	3778	c.3691G>T	c.(3691-3693)Gac>Tac	p.D1231Y	MYH3_ENST00000226209.7_Missense_Mutation_p.D1231Y	NM_002470.3	NP_002461.2	P11055	MYH3_HUMAN	myosin, heavy chain 3, skeletal muscle, embryonic	1231					actin filament-based movement (GO:0030048)|ATP catabolic process (GO:0006200)|embryonic limb morphogenesis (GO:0030326)|face morphogenesis (GO:0060325)|muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|sarcomere organization (GO:0045214)|skeletal muscle contraction (GO:0003009)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)|sarcomere (GO:0030017)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|ATPase activity, coupled (GO:0042623)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)	p.D1231Y(1)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(5)|large_intestine(18)|lung(30)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	83						CTGGAGAGGTCATCGATCTCC	0.562																																						uc002gmq.1																			1	Substitution - Missense(1)		lung(1)	ovary(4)|central_nervous_system(2)|pancreas(1)	7						c.(3691-3693)GAC>TAC		myosin, heavy chain 3, skeletal muscle,							107.0	96.0	99.0					17																	10541398		2203	4300	6503	SO:0001583	missense	4621				muscle filament sliding|muscle organ development	cytosol|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity	g.chr17:10541398C>A		CCDS11157.1	17p13.1	2013-09-19	2006-09-29		ENSG00000109063	ENSG00000109063		"""Myosins / Myosin superfamily : Class II"""	7573	protein-coding gene	gene with protein product	"""myosin, skeletal, heavy chain, embryonic 1"", ""muscle embryonic myosin heavy chain 3"""	160720	"""myosin, heavy polypeptide 3, skeletal muscle, embryonic"""			2726495	Standard	NM_002470		Approved	MYHC-EMB, MYHSE1, HEMHC, SMHCE	uc002gmq.2	P11055	OTTHUMG00000130367	ENST00000583535.1:c.3691G>T	17.37:g.10541398C>A	ENSP00000464317:p.Asp1231Tyr						p.D1231Y	NM_002470	NP_002461	P11055	MYH3_HUMAN			26	3768	-			1231			Potential.		Q15492	Missense_Mutation	SNP	ENST00000583535.1	37	c.3691G>T	CCDS11157.1	.	.	.	.	.	.	.	.	.	.	C	19.43	3.826569	0.71143	.	.	ENSG00000109063	ENST00000226209	D	0.81739	-1.53	5.34	5.34	0.76211	Myosin tail (1);	.	.	.	.	D	0.93874	0.8040	H	0.97732	4.065	0.58432	D	0.999994	D	0.89917	1.0	D	0.83275	0.996	D	0.95679	0.8730	9	0.87932	D	0	.	19.4201	0.94719	0.0:1.0:0.0:0.0	.	1231	P11055	MYH3_HUMAN	Y	1231	ENSP00000226209:D1231Y	ENSP00000226209:D1231Y	D	-	1	0	MYH3	10482123	1.000000	0.71417	0.993000	0.49108	0.310000	0.27922	6.048000	0.71046	2.667000	0.90743	0.655000	0.94253	GAC		PASS	0.562	MYH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252734.2	NM_002470		70	66	70	66	---	---	---	---
DNAH9	1770	broad.mit.edu	37	17	11556254	11556254	+	Missense_Mutation	SNP	G	G	T	rs571270011		TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr17:11556254G>T	ENST00000262442.4	+	14	2598	c.2530G>T	c.(2530-2532)Gat>Tat	p.D844Y	DNAH9_ENST00000454412.2_Missense_Mutation_p.D844Y	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	844	Stem. {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.D844Y(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)		TGATCGGCATGATCGAATGGA	0.418													G|||	1	0.000199681	0.0	0.0	5008	,	,		20013	0.0		0.001	False		,,,				2504	0.0					uc002gne.2																			1	Substitution - Missense(1)		lung(1)	skin(10)|ovary(4)|breast(3)|central_nervous_system(2)|pancreas(1)	20						c.(2530-2532)GAT>TAT		dynein, axonemal, heavy chain 9 isoform 2							113.0	109.0	111.0					17																	11556254		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.chr17:11556254G>T	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.2530G>T	17.37:g.11556254G>T	ENSP00000262442:p.Asp844Tyr					DNAH9_uc010coo.2_Missense_Mutation_p.D138Y	p.D844Y	NM_001372	NP_001363	Q9NYC9	DYH9_HUMAN		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)	14	2598	+		Breast(5;0.0122)|all_epithelial(5;0.131)	844			Stem (By similarity).		A2VCQ8|O15064|O95494|Q9NQ28	Missense_Mutation	SNP	ENST00000262442.4	37	c.2530G>T	CCDS11160.1	.	.	.	.	.	.	.	.	.	.	G	13.84	2.357236	0.41801	.	.	ENSG00000007174	ENST00000262442;ENST00000454412	T;T	0.27557	1.7;1.66	5.27	4.3	0.51218	.	0.451703	0.23912	N	0.043328	T	0.49115	0.1538	M	0.80746	2.51	0.80722	D	1	D	0.54397	0.966	P	0.52710	0.707	T	0.58228	-0.7673	10	0.72032	D	0.01	.	14.3479	0.66680	0.0721:0.0:0.9279:0.0	.	844	Q9NYC9	DYH9_HUMAN	Y	844	ENSP00000262442:D844Y;ENSP00000414874:D844Y	ENSP00000262442:D844Y	D	+	1	0	DNAH9	11496979	1.000000	0.71417	0.053000	0.19242	0.059000	0.15707	6.062000	0.71155	1.363000	0.46019	0.650000	0.86243	GAT		PASS	0.418	DNAH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252756.2	NM_001372		50	52	50	52	---	---	---	---
DNAH9	1770	broad.mit.edu	37	17	11572399	11572399	+	Missense_Mutation	SNP	C	C	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr17:11572399C>A	ENST00000262442.4	+	16	2818	c.2750C>A	c.(2749-2751)aCc>aAc	p.T917N	DNAH9_ENST00000454412.2_Missense_Mutation_p.T917N	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	917	Stem. {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.T917N(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)		GCAGGACTTACCCCAATATTT	0.428																																						uc002gne.2																			1	Substitution - Missense(1)		lung(1)	skin(10)|ovary(4)|breast(3)|central_nervous_system(2)|pancreas(1)	20						c.(2749-2751)ACC>AAC		dynein, axonemal, heavy chain 9 isoform 2							116.0	112.0	114.0					17																	11572399		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.chr17:11572399C>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.2750C>A	17.37:g.11572399C>A	ENSP00000262442:p.Thr917Asn					DNAH9_uc010coo.2_Missense_Mutation_p.T211N	p.T917N	NM_001372	NP_001363	Q9NYC9	DYH9_HUMAN		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)	16	2818	+		Breast(5;0.0122)|all_epithelial(5;0.131)	917			Stem (By similarity).		A2VCQ8|O15064|O95494|Q9NQ28	Missense_Mutation	SNP	ENST00000262442.4	37	c.2750C>A	CCDS11160.1	.	.	.	.	.	.	.	.	.	.	C	11.93	1.786718	0.31593	.	.	ENSG00000007174	ENST00000262442;ENST00000454412	T;T	0.25749	1.82;1.78	5.6	2.43	0.29744	.	0.558397	0.18555	N	0.137792	T	0.17789	0.0427	L	0.29908	0.895	0.22693	N	0.998841	B	0.10296	0.003	B	0.10450	0.005	T	0.18366	-1.0339	10	0.38643	T	0.18	.	9.431	0.38610	0.2574:0.6754:0.0:0.0671	.	917	Q9NYC9	DYH9_HUMAN	N	917	ENSP00000262442:T917N;ENSP00000414874:T917N	ENSP00000262442:T917N	T	+	2	0	DNAH9	11513124	0.957000	0.32711	0.301000	0.25044	0.956000	0.61745	3.701000	0.54793	0.274000	0.22072	-0.136000	0.14681	ACC		PASS	0.428	DNAH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252756.2	NM_001372		89	66	89	66	---	---	---	---
TNFRSF13B	23495	broad.mit.edu	37	17	16842928	16842928	+	Missense_Mutation	SNP	G	G	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr17:16842928G>T	ENST00000261652.2	-	5	827	c.815C>A	c.(814-816)cCa>cAa	p.P272Q	TNFRSF13B_ENST00000581616.2_5'Flank|TNFRSF13B_ENST00000437538.2_Intron|TNFRSF13B_ENST00000583789.1_Missense_Mutation_p.P226Q|TNFRSF13B_ENST00000579315.1_Intron	NM_012452.2	NP_036584.1	O14836	TR13B_HUMAN	tumor necrosis factor receptor superfamily, member 13B	272					B cell homeostasis (GO:0001782)|cell surface receptor signaling pathway (GO:0007166)|hematopoietic progenitor cell differentiation (GO:0002244)|negative regulation of B cell proliferation (GO:0030889)	external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)	receptor activity (GO:0004872)	p.P272Q(1)		endometrium(1)|kidney(2)|large_intestine(4)|liver(1)|lung(7)|skin(1)	16						TGGGATGTGTGGGCAAGGCTG	0.662									IgA Deficiency, Selective																													uc002gqs.1																			1	Substitution - Missense(1)		lung(1)	kidney(2)	2						c.(814-816)CCA>CAA		tumor necrosis factor receptor 13B							50.0	47.0	48.0					17																	16842928		2203	4300	6503	SO:0001583	missense	23495	IgA_Deficiency_Selective	Familial Cancer Database	IGAD1, IGAD2	cell surface receptor linked signaling pathway	integral to plasma membrane	protein binding|receptor activity	g.chr17:16842928G>T	AF023614	CCDS11181.1	17p11.2	2014-09-17			ENSG00000240505	ENSG00000240505		"""Tumor necrosis factor receptor superfamily"", ""CD molecules"""	18153	protein-coding gene	gene with protein product		604907				9311921	Standard	NM_012452		Approved	TACI, CD267	uc002gqs.1	O14836	OTTHUMG00000059262	ENST00000261652.2:c.815C>A	17.37:g.16842928G>T	ENSP00000261652:p.Pro272Gln					TNFRSF13B_uc010vwt.1_Intron|TNFRSF13B_uc002gqt.1_Missense_Mutation_p.P226Q	p.P272Q	NM_012452	NP_036584	O14836	TR13B_HUMAN			5	828	-			272			Cytoplasmic (Potential).		B2R8B0|B7Z6V8|Q32LX4|Q7Z6F5	Missense_Mutation	SNP	ENST00000261652.2	37	c.815C>A	CCDS11181.1	.	.	.	.	.	.	.	.	.	.	G	2.690	-0.273360	0.05716	.	.	ENSG00000240505	ENST00000261652	D	0.93133	-3.17	2.2	-1.03	0.10102	.	1.629080	0.03816	N	0.266717	D	0.86682	0.5991	N	0.19112	0.55	0.09310	N	1	B;B	0.27656	0.184;0.115	B;B	0.28709	0.093;0.043	T	0.75966	-0.3131	10	0.42905	T	0.14	-0.0251	4.9163	0.13847	0.5275:0.0:0.4725:0.0	.	226;272	O14836-2;O14836	.;TR13B_HUMAN	Q	272	ENSP00000261652:P272Q	ENSP00000261652:P272Q	P	-	2	0	TNFRSF13B	16783653	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-0.064000	0.11636	-0.224000	0.09928	0.448000	0.29417	CCA		PASS	0.662	TNFRSF13B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131474.2			29	27	29	27	---	---	---	---
RAI1	10743	broad.mit.edu	37	17	17697397	17697397	+	Missense_Mutation	SNP	A	A	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr17:17697397A>T	ENST00000353383.1	+	3	1604	c.1135A>T	c.(1135-1137)Acc>Tcc	p.T379S	RAI1_ENST00000261641.6_Missense_Mutation_p.T379S	NM_030665.3	NP_109590.3	Q7Z5J4	RAI1_HUMAN	retinoic acid induced 1	379					circadian regulation of gene expression (GO:0032922)|negative regulation of multicellular organism growth (GO:0040015)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	enhancer binding (GO:0035326)|zinc ion binding (GO:0008270)	p.T379S(1)		breast(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|prostate(1)|skin(5)|urinary_tract(7)	48				READ - Rectum adenocarcinoma(1115;0.0276)		GCCGCTCAGCACCGGGGCCTT	0.652																																						uc002grm.2																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)|skin(1)	2						c.(1135-1137)ACC>TCC		retinoic acid induced 1							78.0	88.0	85.0					17																	17697397		2203	4300	6503	SO:0001583	missense	10743					cytoplasm|nucleus	zinc ion binding	g.chr17:17697397A>T	AJ230819	CCDS11188.1	17p11.2	2011-02-08			ENSG00000108557	ENSG00000108557			9834	protein-coding gene	gene with protein product		607642	"""Smith-Magenis syndrome chromosome region"""	SMCR		10036180	Standard	NM_030665		Approved	DKFZP434A139, SMS, KIAA1820, MGC12824	uc002grm.3	Q7Z5J4	OTTHUMG00000059314	ENST00000353383.1:c.1135A>T	17.37:g.17697397A>T	ENSP00000323074:p.Thr379Ser					RAI1_uc002grn.1_Missense_Mutation_p.T379S	p.T379S	NM_030665	NP_109590	Q7Z5J4	RAI1_HUMAN		READ - Rectum adenocarcinoma(1115;0.0276)	3	1604	+			379					Q8N3B4|Q8ND08|Q8WU64|Q96JK5|Q9H1C1|Q9H1C2|Q9UF69	Missense_Mutation	SNP	ENST00000353383.1	37	c.1135A>T	CCDS11188.1	.	.	.	.	.	.	.	.	.	.	A	5.197	0.221847	0.09863	.	.	ENSG00000108557	ENST00000353383;ENST00000395774;ENST00000395776;ENST00000355970;ENST00000261641;ENST00000315321	T;T;T	0.32023	1.47;1.47;1.47	5.55	-0.737	0.11129	.	0.444750	0.24539	N	0.037643	T	0.20210	0.0486	L	0.50333	1.59	0.18873	N	0.999982	B	0.17465	0.022	B	0.16289	0.015	T	0.13710	-1.0499	10	0.38643	T	0.18	.	2.2887	0.04133	0.483:0.1227:0.2828:0.1115	.	379	Q7Z5J4	RAI1_HUMAN	S	379;379;379;379;379;356	ENSP00000323074:T379S;ENSP00000379120:T379S;ENSP00000261641:T379S	ENSP00000261641:T379S	T	+	1	0	RAI1	17638122	0.001000	0.12720	0.000000	0.03702	0.047000	0.14425	0.069000	0.14552	-0.448000	0.07128	-0.379000	0.06801	ACC		PASS	0.652	RAI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131775.1	NM_030665		67	45	67	45	---	---	---	---
RAI1	10743	broad.mit.edu	37	17	17698714	17698714	+	Missense_Mutation	SNP	G	G	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr17:17698714G>T	ENST00000353383.1	+	3	2921	c.2452G>T	c.(2452-2454)Gtg>Ttg	p.V818L	RAI1_ENST00000261641.6_Missense_Mutation_p.V818L	NM_030665.3	NP_109590.3	Q7Z5J4	RAI1_HUMAN	retinoic acid induced 1	818					circadian regulation of gene expression (GO:0032922)|negative regulation of multicellular organism growth (GO:0040015)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	enhancer binding (GO:0035326)|zinc ion binding (GO:0008270)	p.V818L(1)		breast(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|prostate(1)|skin(5)|urinary_tract(7)	48				READ - Rectum adenocarcinoma(1115;0.0276)		GGTGGGTGGGGTGAAGGAGGA	0.692																																						uc002grm.2																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)|skin(1)	2						c.(2452-2454)GTG>TTG		retinoic acid induced 1							27.0	35.0	32.0					17																	17698714		2201	4299	6500	SO:0001583	missense	10743					cytoplasm|nucleus	zinc ion binding	g.chr17:17698714G>T	AJ230819	CCDS11188.1	17p11.2	2011-02-08			ENSG00000108557	ENSG00000108557			9834	protein-coding gene	gene with protein product		607642	"""Smith-Magenis syndrome chromosome region"""	SMCR		10036180	Standard	NM_030665		Approved	DKFZP434A139, SMS, KIAA1820, MGC12824	uc002grm.3	Q7Z5J4	OTTHUMG00000059314	ENST00000353383.1:c.2452G>T	17.37:g.17698714G>T	ENSP00000323074:p.Val818Leu					RAI1_uc002grn.1_Missense_Mutation_p.V818L	p.V818L	NM_030665	NP_109590	Q7Z5J4	RAI1_HUMAN		READ - Rectum adenocarcinoma(1115;0.0276)	3	2921	+			818					Q8N3B4|Q8ND08|Q8WU64|Q96JK5|Q9H1C1|Q9H1C2|Q9UF69	Missense_Mutation	SNP	ENST00000353383.1	37	c.2452G>T	CCDS11188.1	.	.	.	.	.	.	.	.	.	.	G	17.33	3.362365	0.61403	.	.	ENSG00000108557	ENST00000353383;ENST00000395774;ENST00000395776;ENST00000355970;ENST00000261641;ENST00000315321	T;T;T	0.66638	-0.22;2.5;0.39	5.37	5.37	0.77165	.	0.211136	0.33023	N	0.005371	T	0.61388	0.2343	L	0.51422	1.61	0.28782	N	0.89979	P	0.47762	0.9	P	0.46718	0.525	T	0.58352	-0.7651	10	0.02654	T	1	.	13.6415	0.62253	0.0:0.0:0.8449:0.1551	.	818	Q7Z5J4	RAI1_HUMAN	L	818;818;818;818;818;770	ENSP00000323074:V818L;ENSP00000379120:V818L;ENSP00000261641:V818L	ENSP00000261641:V818L	V	+	1	0	RAI1	17639439	1.000000	0.71417	1.000000	0.80357	0.783000	0.44284	2.308000	0.43690	2.519000	0.84933	0.561000	0.74099	GTG		PASS	0.692	RAI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131775.1	NM_030665		12	9	12	9	---	---	---	---
TBC1D28	254272	broad.mit.edu	37	17	18541193	18541193	+	Missense_Mutation	SNP	G	G	T	rs377075494		TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr17:18541193G>T	ENST00000345096.4	-	8	1180	c.481C>A	c.(481-483)Caa>Aaa	p.Q161K	TBC1D28_ENST00000405044.1_Missense_Mutation_p.Q161K			Q2M2D7	TBC28_HUMAN	TBC1 domain family, member 28	161	Rab-GAP TBC.						Rab GTPase activator activity (GO:0005097)	p.Q161K(1)		breast(1)|large_intestine(5)|lung(2)|ovary(1)	9						CCGAATCTTTGTATGAACATC	0.542																																						uc002gud.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(481-483)CAA>AAA		TBC1 domain family, member 28							53.0	59.0	57.0					17																	18541193		2056	4174	6230	SO:0001583	missense	254272					intracellular	Rab GTPase activator activity	g.chr17:18541193G>T		CCDS42273.1	17p11.2	2008-10-27			ENSG00000189375	ENSG00000189375			26858	protein-coding gene	gene with protein product							Standard	NM_001039397		Approved	FLJ40244	uc002gud.2	Q2M2D7	OTTHUMG00000059054	ENST00000345096.4:c.481C>A	17.37:g.18541193G>T	ENSP00000339973:p.Gln161Lys						p.Q161K	NM_001039397	NP_001034486	Q2M2D7	TBC28_HUMAN			9	893	-			161			Rab-GAP TBC.		Q2M2E1	Missense_Mutation	SNP	ENST00000345096.4	37	c.481C>A	CCDS42273.1	.	.	.	.	.	.	.	.	.	.	N	3.312	-0.140503	0.06669	.	.	ENSG00000189375	ENST00000345096;ENST00000405044	T;T	0.10960	2.82;2.82	0.167	-0.334	0.12666	Rab-GAP/TBC domain (2);	0.579725	0.17034	U	0.189619	T	0.05547	0.0146	N	0.19112	0.55	0.09310	N	1	B	0.30727	0.292	B	0.30029	0.11	T	0.31081	-0.9956	9	0.72032	D	0.01	.	.	.	.	.	161	Q2M2D7	TBC28_HUMAN	K	161	ENSP00000339973:Q161K;ENSP00000385821:Q161K	ENSP00000339973:Q161K	Q	-	1	0	TBC1D28	18481918	0.809000	0.29036	0.002000	0.10522	0.002000	0.02628	0.671000	0.25172	-0.972000	0.03559	-0.971000	0.02607	CAA		PASS	0.542	TBC1D28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130672.2	NM_001039397		29	44	29	44	---	---	---	---
LGALS9	3965	broad.mit.edu	37	17	25967675	25967675	+	Missense_Mutation	SNP	G	G	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr17:25967675G>T	ENST00000395473.2	+	3	1677	c.209G>T	c.(208-210)gGg>gTg	p.G70V	LGALS9_ENST00000313648.6_Missense_Mutation_p.G70V|AC015688.3_ENST00000584605.1_3'UTR|LGALS9_ENST00000413914.2_Missense_Mutation_p.G13V|LGALS9_ENST00000310394.5_Missense_Mutation_p.G70V|LGALS9_ENST00000302228.5_Missense_Mutation_p.G70V|LGALS9_ENST00000448970.2_3'UTR	NM_009587.2	NP_033665.1	O00182	LEG9_HUMAN	lectin, galactoside-binding, soluble, 9	70	Galectin 1. {ECO:0000255|PROSITE- ProRule:PRU00639}.				positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	carbohydrate binding (GO:0030246)|galactose binding (GO:0005534)|signal transducer activity (GO:0004871)	p.G70V(1)		endometrium(3)|large_intestine(2)|lung(12)|skin(1)	18	Lung NSC(42;0.0103)		BRCA - Breast invasive adenocarcinoma(3;0.0141)	UCEC - Uterine corpus endometrioid carcinoma (53;0.155)		GAAGATGGAGGGTACGTGGTG	0.537																																					Melanoma(106;677 1527 28724 29571 46552)|Ovarian(193;263 2088 2118 29005 43023)	uc002gzp.2																			1	Substitution - Missense(1)		lung(1)		0						c.(208-210)GGG>GTG		galectin-9 isoform long							143.0	136.0	138.0					17																	25967675		2203	4300	6503	SO:0001583	missense	3965				positive regulation of I-kappaB kinase/NF-kappaB cascade	cytoplasm|extracellular region	galactose binding|signal transducer activity	g.chr17:25967675G>T	AB006782	CCDS11222.1, CCDS32592.1	17q11.2	2013-03-28	2008-07-25		ENSG00000168961	ENSG00000168961		"""Lectins, galactoside-binding"""	6570	protein-coding gene	gene with protein product	"""galectin 9"""	601879				9045665	Standard	NM_009587		Approved	LGALS9A	uc002gzp.3	O00182	OTTHUMG00000179831	ENST00000395473.2:c.209G>T	17.37:g.25967675G>T	ENSP00000378856:p.Gly70Val					LGALS9_uc002gzq.2_Missense_Mutation_p.G70V|LGALS9_uc002gzr.2_Missense_Mutation_p.G13V|LGALS9_uc010waa.1_Missense_Mutation_p.G13V|LGALS9_uc002gzs.2_Missense_Mutation_p.G70V	p.G70V	NM_009587	NP_033665	O00182	LEG9_HUMAN	BRCA - Breast invasive adenocarcinoma(3;0.0141)	UCEC - Uterine corpus endometrioid carcinoma (53;0.155)	3	327	+	Lung NSC(42;0.0103)		70			Galectin 1.		A7VJG6|O14532|O75028|Q3B8N1|Q53FQ0|Q9NQ58	Missense_Mutation	SNP	ENST00000395473.2	37	c.209G>T	CCDS11222.1	.	.	.	.	.	.	.	.	.	.	G	12.04	1.817304	0.32145	.	.	ENSG00000168961	ENST00000395473;ENST00000302228;ENST00000310394;ENST00000313648;ENST00000413914;ENST00000448970	T;T;T;T;T	0.13307	2.6;2.6;2.6;2.6;2.6	3.94	3.94	0.45596	Concanavalin A-like lectin/glucanase (1);Galectin, carbohydrate recognition domain (4);Concanavalin A-like lectin/glucanase, subgroup (1);	0.417958	0.24554	N	0.037523	T	0.43722	0.1260	M	0.90542	3.125	0.21473	N	0.999672	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	0.996;0.999;0.998;0.998;1.0	T	0.37842	-0.9688	10	0.62326	D	0.03	.	13.9103	0.63862	0.0:0.0:1.0:0.0	.	13;70;13;70;70	B4DWP7;F8W9W4;B4DJD7;Q3B8N1;O00182	.;.;.;.;LEG9_HUMAN	V	70;70;70;70;13;70	ENSP00000378856:G70V;ENSP00000306228:G70V;ENSP00000312259:G70V;ENSP00000318214:G70V;ENSP00000393695:G13V	ENSP00000306228:G70V	G	+	2	0	LGALS9	22991802	0.006000	0.16342	0.224000	0.23877	0.184000	0.23303	0.532000	0.23067	2.225000	0.72522	0.586000	0.80456	GGG		PASS	0.537	LGALS9-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000255583.1	NM_009587		35	130	35	130	---	---	---	---
SPAG5	10615	broad.mit.edu	37	17	26920005	26920005	+	Missense_Mutation	SNP	G	G	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr17:26920005G>A	ENST00000321765.5	-	3	589	c.257C>T	c.(256-258)tCc>tTc	p.S86F		NM_006461.3	NP_006452.3	Q96R06	SPAG5_HUMAN	sperm associated antigen 5	86					chromosome segregation (GO:0007059)|mitotic sister chromatid segregation (GO:0000070)|regulation of attachment of spindle microtubules to kinetochore (GO:0051988)|spindle organization (GO:0007051)	cytoplasm (GO:0005737)|kinetochore (GO:0000776)|microtubule plus-end (GO:0035371)|mitotic spindle (GO:0072686)		p.S86F(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(8)|lung(17)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	43	Lung NSC(42;0.00431)					CCACTTTGAGGAATGACTGAA	0.413																																						uc002hbq.2																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1						c.(256-258)TCC>TTC		sperm associated antigen 5							120.0	122.0	121.0					17																	26920005		2203	4300	6503	SO:0001583	missense	10615				cell division|mitosis|phosphatidylinositol-mediated signaling|spindle organization	condensed chromosome kinetochore|cytoplasm|spindle pole	protein binding	g.chr17:26920005G>A	AF063308	CCDS32594.1	17q11.2	2008-07-18			ENSG00000076382	ENSG00000076382			13452	protein-coding gene	gene with protein product	"""mitotic spindle coiled-coil related protein"", ""astrin"", ""mitotic spindle associated protein p126"""	615562				11549262	Standard	NM_006461		Approved	DEEPEST, MAP126, hMAP126	uc002hbq.3	Q96R06	OTTHUMG00000166586	ENST00000321765.5:c.257C>T	17.37:g.26920005G>A	ENSP00000323300:p.Ser86Phe					SGK494_uc010waq.1_Intron	p.S86F	NM_006461	NP_006452	Q96R06	SPAG5_HUMAN			3	349	-	Lung NSC(42;0.00431)		86					O95213|Q9BWE8|Q9NT17|Q9UFE6	Missense_Mutation	SNP	ENST00000321765.5	37	c.257C>T	CCDS32594.1	.	.	.	.	.	.	.	.	.	.	G	2.849	-0.238650	0.05944	.	.	ENSG00000076382	ENST00000321765	.	.	.	5.73	3.69	0.42338	.	0.633338	0.14904	N	0.291679	T	0.18002	0.0432	N	0.22421	0.69	0.09310	N	1	P	0.41569	0.755	B	0.35607	0.206	T	0.11060	-1.0603	9	0.87932	D	0	0.0448	6.7203	0.23327	0.0882:0.0:0.734:0.1779	.	86	Q96R06	SPAG5_HUMAN	F	86	.	ENSP00000323300:S86F	S	-	2	0	SPAG5	23944132	0.024000	0.19004	0.010000	0.14722	0.255000	0.26057	2.038000	0.41184	1.508000	0.48769	0.655000	0.94253	TCC		PASS	0.413	SPAG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390564.2	NM_006461		47	130	47	130	---	---	---	---
KIAA0100	9703	broad.mit.edu	37	17	26960074	26960074	+	Missense_Mutation	SNP	C	C	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr17:26960074C>A	ENST00000528896.2	-	20	3765	c.3691G>T	c.(3691-3693)Gcc>Tcc	p.A1231S	KIAA0100_ENST00000544884.1_Missense_Mutation_p.A1088S|RP11-192H23.7_ENST00000577814.1_RNA|KIAA0100_ENST00000389003.3_Missense_Mutation_p.A1088S|RP11-192H23.7_ENST00000583787.1_RNA	NM_014680.3	NP_055495.2	Q14667	K0100_HUMAN	KIAA0100	1231						extracellular region (GO:0005576)		p.A1231S(1)		breast(3)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(23)|ovary(2)|prostate(2)|skin(6)|stomach(2)|urinary_tract(3)	68	Lung NSC(42;0.00431)					AACTCTGGGGCCCGCAGAGTG	0.587																																						uc002hbu.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|breast(1)|skin(1)	4						c.(3691-3693)GCC>TCC		hypothetical protein LOC9703 precursor							72.0	75.0	74.0					17																	26960074		2203	4300	6503	SO:0001583	missense	9703					extracellular region		g.chr17:26960074C>A	D43947	CCDS32595.1	17q11.2	2012-11-29			ENSG00000007202	ENSG00000007202			28960	protein-coding gene	gene with protein product	"""cancer/testis antigen 101"", ""breast cancer overexpressed gene 1"""	610664				16289875	Standard	NM_014680		Approved	DKFZp686M0843, MGC111488, BCOX1, CT101, BCOX	uc002hbu.3	Q14667	OTTHUMG00000166587	ENST00000528896.2:c.3691G>T	17.37:g.26960074C>A	ENSP00000436773:p.Ala1231Ser						p.A1231S	NM_014680	NP_055495	Q14667	K0100_HUMAN			20	3790	-	Lung NSC(42;0.00431)		1231					A6NCX3|Q3SYN5|Q49A07|Q5H9T4|Q6WG74|Q6ZP51|Q96HH8	Missense_Mutation	SNP	ENST00000528896.2	37	c.3691G>T	CCDS32595.1	.	.	.	.	.	.	.	.	.	.	c	15.63	2.890057	0.52014	.	.	ENSG00000007202	ENST00000005905;ENST00000389003;ENST00000528896;ENST00000544884	T;T	0.26518	1.73;1.77	5.69	5.69	0.88448	.	0.238372	0.42420	D	0.000714	T	0.20373	0.0490	L	0.42245	1.32	0.45056	D	0.998076	B	0.11235	0.004	B	0.08055	0.003	T	0.05500	-1.0881	10	0.08381	T	0.77	.	12.8399	0.57794	0.2715:0.7285:0.0:0.0	.	1231	Q14667	K0100_HUMAN	S	1231;1201;1231;1088	ENSP00000436773:A1231S;ENSP00000446443:A1088S	ENSP00000005905:A1231S	A	-	1	0	KIAA0100	23984201	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	3.317000	0.51968	2.686000	0.91538	0.558000	0.71614	GCC		PASS	0.587	KIAA0100-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390571.3	NM_014680		19	64	19	64	---	---	---	---
MYO18A	399687	broad.mit.edu	37	17	27425375	27425375	+	Splice_Site	SNP	C	C	G			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr17:27425375C>G	ENST00000527372.1	-	24	4049	c.3869G>C	c.(3868-3870)cGg>cCg	p.R1290P	MYO18A_ENST00000533112.1_Splice_Site_p.R1290P|MYO18A_ENST00000354329.4_Splice_Site_p.R1290P|MYO18A_ENST00000531253.1_Splice_Site_p.R1290P	NM_078471.3	NP_510880.2	Q92614	MY18A_HUMAN	myosin XVIIIA	1290					actomyosin structure organization (GO:0031032)|cell migration (GO:0016477)|DNA metabolic process (GO:0006259)|Golgi organization (GO:0007030)|Golgi vesicle budding (GO:0048194)|negative regulation of apoptotic process (GO:0043066)|positive regulation of protein secretion (GO:0050714)	actomyosin (GO:0042641)|Golgi membrane (GO:0000139)|membrane (GO:0016020)|myosin complex (GO:0016459)|trans-Golgi network (GO:0005802)	actin filament binding (GO:0051015)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|motor activity (GO:0003774)|poly(A) RNA binding (GO:0044822)	p.R1290P(2)		NS(1)|cervix(1)|endometrium(6)|kidney(6)|lung(20)|urinary_tract(2)	36			Epithelial(11;4.97e-05)|BRCA - Breast invasive adenocarcinoma(11;0.000221)|all cancers(11;0.000234)|Colorectal(6;0.0102)|COAD - Colon adenocarcinoma(6;0.031)			GTCACTCACCCGGCTCTCCAG	0.652																																					Esophageal Squamous(182;472 2015 7001 15270 22562)	uc002hdt.1																			2	Substitution - Missense(2)		lung(2)		0						c.(3868-3870)CGG>CCG		myosin 18A isoform a							36.0	42.0	40.0					17																	27425375		2088	4194	6282	SO:0001630	splice_region_variant	399687				anti-apoptosis|DNA metabolic process	ER-Golgi intermediate compartment|myosin complex	ATP binding|DNA binding|DNA-dependent ATPase activity|identical protein binding|motor activity	g.chr17:27425375C>G	D86970	CCDS45641.1, CCDS45642.1	17q11.2	2011-09-27			ENSG00000196535	ENSG00000196535		"""Myosins / Myosin superfamily : Class XVIII"""	31104	protein-coding gene	gene with protein product		610067				12761286	Standard	NM_078471		Approved	KIAA0216, MysPDZ	uc002hdt.1	Q92614	OTTHUMG00000166360	ENST00000527372.1:c.3870+1G>C	17.37:g.27425375C>G						MYO18A_uc010wbc.1_Missense_Mutation_p.R832P|MYO18A_uc002hds.2_Missense_Mutation_p.R832P|MYO18A_uc010csa.1_Missense_Mutation_p.R1290P|MYO18A_uc002hdu.1_Missense_Mutation_p.R1290P|MYO18A_uc010wbd.1_Missense_Mutation_p.R959P	p.R1290P	NM_078471	NP_510880	Q92614	MY18A_HUMAN	Epithelial(11;4.97e-05)|BRCA - Breast invasive adenocarcinoma(11;0.000221)|all cancers(11;0.000234)|Colorectal(6;0.0102)|COAD - Colon adenocarcinoma(6;0.031)		24	4027	-			1290			Potential.		Q5H9U3|Q5W9F9|Q5W9G1|Q8IXP8	Missense_Mutation	SNP	ENST00000527372.1	37	c.3869G>C	CCDS45642.1	.	.	.	.	.	.	.	.	.	.	C	24.2	4.509386	0.85282	.	.	ENSG00000196535	ENST00000354329;ENST00000359450;ENST00000533112;ENST00000531253;ENST00000527372;ENST00000529799;ENST00000540575;ENST00000458428	T;D;T;T	0.88741	-1.11;-2.42;-1.11;-1.11	5.38	4.4	0.53042	Myosin tail (1);	0.094110	0.64402	D	0.000002	D	0.92163	0.7515	M	0.62723	1.935	0.37129	D	0.901173	D;D;D;D;D	0.65815	0.989;0.992;0.992;0.992;0.995	D;P;P;P;D	0.69142	0.912;0.835;0.905;0.905;0.962	D	0.93570	0.6903	10	0.87932	D	0	.	10.8773	0.46919	0.0:0.8549:0.0:0.1451	.	959;902;1290;1290;1290	Q92614-2;F8W6Y3;Q92614-3;Q92614-4;Q92614	.;.;.;.;MY18A_HUMAN	P	1290;1290;1290;1290;1290;186;186;902	ENSP00000346291:R1290P;ENSP00000435932:R1290P;ENSP00000434228:R1290P;ENSP00000437073:R1290P	ENSP00000346291:R1290P	R	-	2	0	MYO18A	24449501	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	3.723000	0.54955	2.505000	0.84491	0.655000	0.94253	CGG		PASS	0.652	MYO18A-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000389396.1	NM_078471	Missense_Mutation	9	24	9	24	---	---	---	---
SLC6A4	6532	broad.mit.edu	37	17	28543169	28543169	+	Silent	SNP	G	G	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr17:28543169G>T	ENST00000401766.2	-	6	1415	c.903C>A	c.(901-903)acC>acA	p.T301T	SLC6A4_ENST00000261707.3_Silent_p.T301T			P31645	SC6A4_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 4	301					brain morphogenesis (GO:0048854)|cellular response to cGMP (GO:0071321)|cellular response to retinoic acid (GO:0071300)|circadian rhythm (GO:0007623)|memory (GO:0007613)|monoamine transport (GO:0015844)|negative regulation of cerebellar granule cell precursor proliferation (GO:0021941)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of organ growth (GO:0046621)|negative regulation of synaptic transmission, dopaminergic (GO:0032227)|positive regulation of cell cycle (GO:0045787)|positive regulation of gene expression (GO:0010628)|protein homooligomerization (GO:0051260)|protein oligomerization (GO:0051259)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to hypoxia (GO:0001666)|response to nutrient (GO:0007584)|response to toxic substance (GO:0009636)|serotonin transport (GO:0006837)|serotonin uptake (GO:0051610)|social behavior (GO:0035176)|sperm ejaculation (GO:0042713)|thalamus development (GO:0021794)|vasoconstriction (GO:0042310)	cytosol (GO:0005829)|endomembrane system (GO:0012505)|endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	actin filament binding (GO:0051015)|cocaine binding (GO:0019811)|monoamine transmembrane transporter activity (GO:0008504)|Rab GTPase binding (GO:0017137)|serotonin transmembrane transporter activity (GO:0015222)|serotonin:sodium symporter activity (GO:0005335)	p.T301T(1)		breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(4)	25					Amitriptyline(DB00321)|Amoxapine(DB00543)|Amphetamine(DB00182)|Atomoxetine(DB00289)|Chlorphenamine(DB01114)|Citalopram(DB00215)|Clomipramine(DB01242)|Cocaine(DB00907)|Desipramine(DB01151)|Desvenlafaxine(DB06700)|Dexfenfluramine(DB01191)|Dexmethylphenidate(DB06701)|Dextromethorphan(DB00514)|Dopamine(DB00988)|Doxepin(DB01142)|Duloxetine(DB00476)|Ephedra(DB01363)|Escitalopram(DB01175)|Fluoxetine(DB00472)|Fluvoxamine(DB00176)|Imipramine(DB00458)|Levomilnacipran(DB08918)|Loxapine(DB00408)|Mazindol(DB00579)|Methamphetamine(DB01577)|Methylphenidate(DB00422)|Mianserin(DB06148)|Milnacipran(DB04896)|Minaprine(DB00805)|Mirtazapine(DB00370)|Nefazodone(DB01149)|Nortriptyline(DB00540)|Paroxetine(DB00715)|Pethidine(DB00454)|Phentermine(DB00191)|Protriptyline(DB00344)|Pseudoephedrine(DB00852)|Sertraline(DB01104)|Sibutramine(DB01105)|Tapentadol(DB06204)|Tramadol(DB00193)|Trazodone(DB00656)|Trimipramine(DB00726)|Venlafaxine(DB00285)|Verapamil(DB00661)|Vilazodone(DB06684)	CTCCAGGGAGGGTGGCACCCC	0.517																																						uc002hey.3																			1	Substitution - coding silent(1)		lung(1)	skin(3)|ovary(1)	4						c.(901-903)ACC>ACA		solute carrier family 6 member 4	Amineptine(DB04836)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Citalopram(DB00215)|Clomipramine(DB01242)|Cocaine(DB00907)|Desipramine(DB01151)|Dexfenfluramine(DB01191)|Dextromethorphan(DB00514)|Doxepin(DB01142)|Duloxetine(DB00476)|Escitalopram(DB01175)|Fluoxetine(DB00472)|Fluvoxamine(DB00176)|Imipramine(DB00458)|Methylphenidate(DB00422)|Milnacipran(DB04896)|Minaprine(DB00805)|Nefazodone(DB01149)|Nortriptyline(DB00540)|Paroxetine(DB00715)|Phentermine(DB00191)|Protriptyline(DB00344)|Sertraline(DB01104)|Sibutramine(DB01105)|Tegaserod(DB01079)|Tramadol(DB00193)|Trazodone(DB00656)|Trimipramine(DB00726)|Venlafaxine(DB00285)|Zimelidine(DB04832)						70.0	70.0	70.0					17																	28543169		2203	4300	6503	SO:0001819	synonymous_variant	6532				response to toxin|serotonin uptake|thalamus development	cytosol|endomembrane system|endosome membrane|membrane raft	actin filament binding|Rab GTPase binding|serotonin transmembrane transporter activity|serotonin:sodium symporter activity	g.chr17:28543169G>T	L05568	CCDS11256.1	17q11.2	2014-01-30	2013-07-19		ENSG00000108576	ENSG00000108576		"""Solute carriers"""	11050	protein-coding gene	gene with protein product	"""serotonin transporter 1"""	182138	"""solute carrier family 6 (neurotransmitter transporter, serotonin), member 4"", ""5-hydroxytryptamine (serotonin) transporter"", ""obsessive-compulsive disorder 1"""	HTT, OCD1		7681602, 19806148	Standard	NM_001045		Approved	5-HTT, SERT1	uc002hey.5	P31645	OTTHUMG00000132751	ENST00000401766.2:c.903C>A	17.37:g.28543169G>T							p.T301T	NM_001045	NP_001036	P31645	SC6A4_HUMAN			7	1447	-			301					Q5EE02	Silent	SNP	ENST00000401766.2	37	c.903C>A	CCDS11256.1																																																																																				PASS	0.517	SLC6A4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256115.3	NM_001045		30	70	30	70	---	---	---	---
BLMH	642	broad.mit.edu	37	17	28614917	28614917	+	Nonsense_Mutation	SNP	T	T	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr17:28614917T>A	ENST00000261714.6	-	4	544	c.370A>T	c.(370-372)Aga>Tga	p.R124*	BLMH_ENST00000582669.1_5'Flank|BLMH_ENST00000394819.3_Nonsense_Mutation_p.R37*|RNU6-1267P_ENST00000410747.1_RNA	NM_000386.3	NP_000377.1	Q13867	BLMH_HUMAN	bleomycin hydrolase	124					antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|protein polyubiquitination (GO:0000209)|proteolysis (GO:0006508)|response to drug (GO:0042493)|response to toxic substance (GO:0009636)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	aminopeptidase activity (GO:0004177)|carboxypeptidase activity (GO:0004180)|cysteine-type endopeptidase activity (GO:0004197)|cysteine-type peptidase activity (GO:0008234)	p.R124*(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(2)|ovary(1)|prostate(1)|stomach(1)	13					Bleomycin(DB00290)	GGCTCCTTTCTCTGGGCTGTG	0.383																																					Pancreas(127;628 1772 12912 33293 36203)	uc002hez.1																			1	Substitution - Nonsense(1)		lung(1)	ovary(1)	1						c.(370-372)AGA>TGA		bleomycin hydrolase							91.0	87.0	88.0					17																	28614917		2203	4300	6503	SO:0001587	stop_gained	642				proteolysis	cytoplasm|nucleus	aminopeptidase activity|carboxypeptidase activity|cysteine-type endopeptidase activity|protein binding	g.chr17:28614917T>A	X92106	CCDS32604.1	17q11.2	2004-02-16				ENSG00000108578			1059	protein-coding gene	gene with protein product		602403				9407121, 9331073	Standard	NM_000386		Approved	BH	uc002hez.2	Q13867		ENST00000261714.6:c.370A>T	17.37:g.28614917T>A	ENSP00000261714:p.Arg124*					BLMH_uc010wbn.1_Nonsense_Mutation_p.R37*	p.R124*	NM_000386	NP_000377	Q13867	BLMH_HUMAN			4	607	-			124					B2R796|Q53F86|Q9UER9	Nonsense_Mutation	SNP	ENST00000261714.6	37	c.370A>T	CCDS32604.1	.	.	.	.	.	.	.	.	.	.	T	37	6.591318	0.97688	.	.	ENSG00000108578	ENST00000261714;ENST00000394819	.	.	.	5.23	5.23	0.72850	.	0.222894	0.53938	D	0.000045	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.08381	T	0.77	-9.1201	13.5483	0.61717	0.0:0.0:0.0:1.0	.	.	.	.	X	124;37	.	ENSP00000261714:R124X	R	-	1	2	BLMH	25639043	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	4.254000	0.58798	2.279000	0.76181	0.533000	0.62120	AGA		PASS	0.383	BLMH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447940.1	NM_000386		37	52	37	52	---	---	---	---
TBC1D29	26083	broad.mit.edu	37	17	28889927	28889927	+	Silent	SNP	C	C	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr17:28889927C>T	ENST00000580161.1	+	5	2716	c.219C>T	c.(217-219)gcC>gcT	p.A73A	RP11-218M11.1_ENST00000563063.1_lincRNA|TBC1D29_ENST00000579181.1_Silent_p.A73A|TBC1D29_ENST00000584297.1_Intron			Q9UFV1	TBC29_HUMAN	TBC1 domain family, member 29	73							Rab GTPase activator activity (GO:0005097)	p.A73A(1)		breast(1)|kidney(1)|lung(3)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	9		Myeloproliferative disorder(56;0.0255)				GGGGACCTGCCACCCCCAGGT	0.517																																						uc002hfh.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(217-219)GCC>GCT		TBC1 domain family, member 29							66.0	71.0	69.0					17																	28889927		2203	4300	6503	SO:0001819	synonymous_variant	26083					intracellular	Rab GTPase activator activity	g.chr17:28889927C>T	BC096718	CCDS32606.1	17q11.2	2014-09-04			ENSG00000266733	ENSG00000266733			24509	protein-coding gene	gene with protein product						12618308	Standard	XM_006721805		Approved	DKFZP434O047	uc002hfh.3	Q9UFV1	OTTHUMG00000178857	ENST00000580161.1:c.219C>T	17.37:g.28889927C>T						TBC1D29_uc002hfi.2_Intron|uc002hfj.1_5'Flank	p.A73A	NM_015594	NP_056409	Q9UFV1	TBC29_HUMAN			4	368	+		Myeloproliferative disorder(56;0.0255)	73						Silent	SNP	ENST00000580161.1	37	c.219C>T	CCDS32606.1																																																																																				PASS	0.517	TBC1D29-004	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000443632.1	NM_015594		22	96	22	96	---	---	---	---
ADAP2	55803	broad.mit.edu	37	17	29281555	29281555	+	Silent	SNP	C	C	G			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr17:29281555C>G	ENST00000330889.3	+	9	1199	c.864C>G	c.(862-864)ctC>ctG	p.L288L	AC091177.1_ENST00000442757.1_RNA|ADAP2_ENST00000580525.1_Silent_p.L294L	NM_018404.2	NP_060874.1	Q9NPF8	ADAP2_HUMAN	ArfGAP with dual PH domains 2	288	PH 2. {ECO:0000255|PROSITE- ProRule:PRU00145}.				heart development (GO:0007507)|regulation of ARF GTPase activity (GO:0032312)	cytoplasm (GO:0005737)|mitochondrial envelope (GO:0005740)|plasma membrane (GO:0005886)	ARF GTPase activator activity (GO:0008060)|inositol 1,3,4,5 tetrakisphosphate binding (GO:0043533)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|protein binding, bridging (GO:0030674)|zinc ion binding (GO:0008270)	p.L288L(1)|p.?(1)		breast(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)	13						GGAGGCTGCTCTATTACAAGA	0.512																																						uc002hfx.2																			2	Unknown(1)|Substitution - coding silent(1)	p.?(1)	lung(1)|central_nervous_system(1)	ovary(1)	1						c.(862-864)CTC>CTG		centaurin-alpha 2 protein							112.0	114.0	113.0					17																	29281555		2203	4300	6503	SO:0001819	synonymous_variant	55803				heart development|regulation of ARF GTPase activity	mitochondrial envelope|plasma membrane	ARF GTPase activator activity|inositol 1,3,4,5 tetrakisphosphate binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-4,5-bisphosphate binding|protein binding, bridging|zinc ion binding	g.chr17:29281555C>G	AJ238994	CCDS11261.1	17q11.2	2013-01-10	2008-09-22	2008-09-22	ENSG00000184060	ENSG00000184060		"""ADP-ribosylation factor GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"""	16487	protein-coding gene	gene with protein product		608635	"""centaurin, alpha 2"""	CENTA2			Standard	XM_005258008		Approved		uc002hfx.3	Q9NPF8	OTTHUMG00000132868	ENST00000330889.3:c.864C>G	17.37:g.29281555C>G						ADAP2_uc010csk.2_Silent_p.L294L|ADAP2_uc002hfy.2_Silent_p.L287L|ADAP2_uc010csl.2_RNA	p.L288L	NM_018404	NP_060874	Q9NPF8	ADAP2_HUMAN			9	1143	+			288			PH 2.		Q8N4Q6|Q96SD5	Silent	SNP	ENST00000330889.3	37	c.864C>G	CCDS11261.1																																																																																				PASS	0.512	ADAP2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000256346.1	NM_018404		61	111	61	111	---	---	---	---
NF1	4763	broad.mit.edu	37	17	29685528	29685528	+	Silent	SNP	C	C	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr17:29685528C>A	ENST00000358273.4	+	55	8384	c.8001C>A	c.(7999-8001)acC>acA	p.T2667T	NF1_ENST00000417592.2_3'UTR|NF1_ENST00000356175.3_Silent_p.T2646T|NF1_ENST00000444181.2_Silent_p.T460T	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	2667					actin cytoskeleton organization (GO:0030036)|adrenal gland development (GO:0030325)|artery morphogenesis (GO:0048844)|brain development (GO:0007420)|camera-type eye morphogenesis (GO:0048593)|cell communication (GO:0007154)|cerebral cortex development (GO:0021987)|cognition (GO:0050890)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|forebrain astrocyte development (GO:0021897)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|liver development (GO:0001889)|MAPK cascade (GO:0000165)|metanephros development (GO:0001656)|myelination in peripheral nervous system (GO:0022011)|negative regulation of angiogenesis (GO:0016525)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of cell migration (GO:0030336)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of neurotransmitter secretion (GO:0046929)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of Rac protein signal transduction (GO:0035021)|negative regulation of Ras protein signal transduction (GO:0046580)|negative regulation of transcription factor import into nucleus (GO:0042992)|neural tube development (GO:0021915)|osteoblast differentiation (GO:0001649)|peripheral nervous system development (GO:0007422)|phosphatidylinositol 3-kinase signaling (GO:0014065)|pigmentation (GO:0043473)|positive regulation of adenylate cyclase activity (GO:0045762)|positive regulation of apoptotic process (GO:0043065)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of Ras GTPase activity (GO:0032320)|Ras protein signal transduction (GO:0007265)|regulation of angiogenesis (GO:0045765)|regulation of blood vessel endothelial cell migration (GO:0043535)|regulation of bone resorption (GO:0045124)|regulation of cell-matrix adhesion (GO:0001952)|regulation of glial cell differentiation (GO:0045685)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of Ras GTPase activity (GO:0032318)|regulation of synaptic transmission, GABAergic (GO:0032228)|response to hypoxia (GO:0001666)|Schwann cell development (GO:0014044)|skeletal muscle tissue development (GO:0007519)|smooth muscle tissue development (GO:0048745)|spinal cord development (GO:0021510)|sympathetic nervous system development (GO:0048485)|visual learning (GO:0008542)|wound healing (GO:0042060)	axon (GO:0030424)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|membrane (GO:0016020)|nucleus (GO:0005634)	phosphatidylcholine binding (GO:0031210)|phosphatidylethanolamine binding (GO:0008429)|Ras GTPase activator activity (GO:0005099)	p.0?(8)|p.?(3)|p.T2667T(2)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		AGATCAACACCCTGTTATCAT	0.348			"""D, Mis, N, F, S, O"""		"""neurofibroma, glioma"""	"""neurofibroma, glioma"""			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)																												uc002hgg.2			yes	Rec	yes	Neurofibromatosis type 1	17	17q12	4763	D|Mis|N|F|S|O	neurofibromatosis type 1 gene			O		neurofibroma|glioma	neurofibroma|glioma		13	Whole gene deletion(8)|Unknown(3)|Substitution - coding silent(2)		soft_tissue(7)|lung(3)|autonomic_ganglia(2)|central_nervous_system(1)	soft_tissue(159)|central_nervous_system(56)|lung(28)|large_intestine(27)|haematopoietic_and_lymphoid_tissue(18)|ovary(18)|autonomic_ganglia(12)|breast(3)|skin(3)|stomach(2)|thyroid(1)|prostate(1)|kidney(1)|pancreas(1)	330						c.(7999-8001)ACC>ACA		neurofibromin isoform 1							104.0	96.0	98.0					17																	29685528		2203	4300	6503	SO:0001819	synonymous_variant	4763	Neurofibromatosis_type_1	Familial Cancer Database	NF1, von Recklinghausen disease, incl.: Hereditary Spinal Neurofibromatosis, Neurofibromatosis-Noonan syndrome	actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	g.chr17:29685528C>A		CCDS11264.1, CCDS42292.1, CCDS45645.1	17q11.2	2014-09-17	2008-07-31		ENSG00000196712	ENSG00000196712			7765	protein-coding gene	gene with protein product	"""neurofibromatosis"", ""von Recklinghausen disease"", ""Watson disease"""	613113				1715669	Standard	NM_000267		Approved		uc002hgg.3	P21359	OTTHUMG00000132871	ENST00000358273.4:c.8001C>A	17.37:g.29685528C>A		TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)				NF1_uc002hgh.2_Silent_p.T2646T|NF1_uc010cso.2_Silent_p.T855T|NF1_uc010wbt.1_Silent_p.T145T|NF1_uc010wbu.1_RNA	p.T2667T	NM_001042492	NP_001035957	P21359	NF1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)	55	8334	+		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)	2667					O00662|Q14284|Q14930|Q14931|Q9UMK3	Silent	SNP	ENST00000358273.4	37	c.8001C>A	CCDS42292.1																																																																																				PASS	0.348	NF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256351.2	NM_000267		15	51	15	51	---	---	---	---
NF1	4763	broad.mit.edu	37	17	29685530	29685530	+	Missense_Mutation	SNP	T	T	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr17:29685530T>A	ENST00000358273.4	+	55	8386	c.8003T>A	c.(8002-8004)cTg>cAg	p.L2668Q	NF1_ENST00000417592.2_3'UTR|NF1_ENST00000356175.3_Missense_Mutation_p.L2647Q|NF1_ENST00000444181.2_Missense_Mutation_p.L461Q	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	2668					actin cytoskeleton organization (GO:0030036)|adrenal gland development (GO:0030325)|artery morphogenesis (GO:0048844)|brain development (GO:0007420)|camera-type eye morphogenesis (GO:0048593)|cell communication (GO:0007154)|cerebral cortex development (GO:0021987)|cognition (GO:0050890)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|forebrain astrocyte development (GO:0021897)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|liver development (GO:0001889)|MAPK cascade (GO:0000165)|metanephros development (GO:0001656)|myelination in peripheral nervous system (GO:0022011)|negative regulation of angiogenesis (GO:0016525)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of cell migration (GO:0030336)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of neurotransmitter secretion (GO:0046929)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of Rac protein signal transduction (GO:0035021)|negative regulation of Ras protein signal transduction (GO:0046580)|negative regulation of transcription factor import into nucleus (GO:0042992)|neural tube development (GO:0021915)|osteoblast differentiation (GO:0001649)|peripheral nervous system development (GO:0007422)|phosphatidylinositol 3-kinase signaling (GO:0014065)|pigmentation (GO:0043473)|positive regulation of adenylate cyclase activity (GO:0045762)|positive regulation of apoptotic process (GO:0043065)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of Ras GTPase activity (GO:0032320)|Ras protein signal transduction (GO:0007265)|regulation of angiogenesis (GO:0045765)|regulation of blood vessel endothelial cell migration (GO:0043535)|regulation of bone resorption (GO:0045124)|regulation of cell-matrix adhesion (GO:0001952)|regulation of glial cell differentiation (GO:0045685)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of Ras GTPase activity (GO:0032318)|regulation of synaptic transmission, GABAergic (GO:0032228)|response to hypoxia (GO:0001666)|Schwann cell development (GO:0014044)|skeletal muscle tissue development (GO:0007519)|smooth muscle tissue development (GO:0048745)|spinal cord development (GO:0021510)|sympathetic nervous system development (GO:0048485)|visual learning (GO:0008542)|wound healing (GO:0042060)	axon (GO:0030424)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|membrane (GO:0016020)|nucleus (GO:0005634)	phosphatidylcholine binding (GO:0031210)|phosphatidylethanolamine binding (GO:0008429)|Ras GTPase activator activity (GO:0005099)	p.0?(8)|p.?(3)|p.L2668Q(2)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		ATCAACACCCTGTTATCATTG	0.348			"""D, Mis, N, F, S, O"""		"""neurofibroma, glioma"""	"""neurofibroma, glioma"""			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)																												uc002hgg.2			yes	Rec	yes	Neurofibromatosis type 1	17	17q12	4763	D|Mis|N|F|S|O	neurofibromatosis type 1 gene			O		neurofibroma|glioma	neurofibroma|glioma		13	Whole gene deletion(8)|Unknown(3)|Substitution - Missense(2)		soft_tissue(7)|lung(3)|autonomic_ganglia(2)|central_nervous_system(1)	soft_tissue(159)|central_nervous_system(56)|lung(28)|large_intestine(27)|haematopoietic_and_lymphoid_tissue(18)|ovary(18)|autonomic_ganglia(12)|breast(3)|skin(3)|stomach(2)|thyroid(1)|prostate(1)|kidney(1)|pancreas(1)	330						c.(8002-8004)CTG>CAG		neurofibromin isoform 1							104.0	96.0	99.0					17																	29685530		2203	4300	6503	SO:0001583	missense	4763	Neurofibromatosis_type_1	Familial Cancer Database	NF1, von Recklinghausen disease, incl.: Hereditary Spinal Neurofibromatosis, Neurofibromatosis-Noonan syndrome	actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	g.chr17:29685530T>A		CCDS11264.1, CCDS42292.1, CCDS45645.1	17q11.2	2014-09-17	2008-07-31		ENSG00000196712	ENSG00000196712			7765	protein-coding gene	gene with protein product	"""neurofibromatosis"", ""von Recklinghausen disease"", ""Watson disease"""	613113				1715669	Standard	NM_000267		Approved		uc002hgg.3	P21359	OTTHUMG00000132871	ENST00000358273.4:c.8003T>A	17.37:g.29685530T>A	ENSP00000351015:p.Leu2668Gln	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)				NF1_uc002hgh.2_Missense_Mutation_p.L2647Q|NF1_uc010cso.2_Missense_Mutation_p.L856Q|NF1_uc010wbt.1_Missense_Mutation_p.L146Q|NF1_uc010wbu.1_RNA	p.L2668Q	NM_001042492	NP_001035957	P21359	NF1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)	55	8336	+		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)	2668					O00662|Q14284|Q14930|Q14931|Q9UMK3	Missense_Mutation	SNP	ENST00000358273.4	37	c.8003T>A	CCDS42292.1	.	.	.	.	.	.	.	.	.	.	T	25.2	4.617580	0.87359	.	.	ENSG00000196712	ENST00000358273;ENST00000356175;ENST00000456735;ENST00000444181	T;T;T;T	0.73047	0.4;-0.71;0.4;-0.71	5.67	5.67	0.87782	Armadillo-type fold (1);	0.078256	0.52532	D	0.000080	T	0.72244	0.3436	L	0.29908	0.895	0.80722	D	1	D;P;P	0.56035	0.974;0.946;0.874	P;P;B	0.55508	0.564;0.777;0.363	T	0.76013	-0.3114	10	0.87932	D	0	.	15.3807	0.74654	0.0:0.0:0.0:1.0	.	461;2647;2668	B4DXH1;P21359-2;P21359	.;.;NF1_HUMAN	Q	2668;2647;2313;461	ENSP00000351015:L2668Q;ENSP00000348498:L2647Q;ENSP00000389907:L2313Q;ENSP00000396481:L461Q	ENSP00000348498:L2647Q	L	+	2	0	NF1	26709656	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	7.510000	0.81708	2.285000	0.76669	0.528000	0.53228	CTG		PASS	0.348	NF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256351.2	NM_000267		15	50	15	50	---	---	---	---
LRRC37B	114659	broad.mit.edu	37	17	30348860	30348860	+	Missense_Mutation	SNP	T	T	C			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr17:30348860T>C	ENST00000341671.7	+	1	700	c.695T>C	c.(694-696)cTg>cCg	p.L232P	LRRC37B_ENST00000584368.1_Missense_Mutation_p.L244P|LRRC37B_ENST00000394713.3_Missense_Mutation_p.L232P|LRRC37B_ENST00000543378.2_Missense_Mutation_p.L150P|LRRC37B_ENST00000327564.7_Missense_Mutation_p.L259P	NM_052888.2	NP_443120.2	Q96QE4	LR37B_HUMAN	leucine rich repeat containing 37B	232						cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)		p.L232P(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	29		Myeloproliferative disorder(56;0.0255)|all_hematologic(16;0.111)|Ovarian(249;0.182)|Breast(31;0.244)				ATGGACACACTGTATCCCGGC	0.502																																						uc002hgu.2																			1	Substitution - Missense(1)		lung(1)	upper_aerodigestive_tract(1)|ovary(1)	2						c.(694-696)CTG>CCG		leucine rich repeat containing 37B precursor							91.0	104.0	100.0					17																	30348860		2203	4300	6503	SO:0001583	missense	114659					integral to membrane		g.chr17:30348860T>C	AJ314647	CCDS32609.1	17q11.2	2006-11-29		2005-08-09	ENSG00000185158	ENSG00000185158			29070	protein-coding gene	gene with protein product	"""KIAA0563-related"""					11468690, 10843809	Standard	NM_052888		Approved		uc002hgu.3	Q96QE4	OTTHUMG00000132785	ENST00000341671.7:c.695T>C	17.37:g.30348860T>C	ENSP00000340519:p.Leu232Pro					LRRC37B_uc010wbx.1_Missense_Mutation_p.L150P|LRRC37B_uc010csu.2_Missense_Mutation_p.L232P	p.L232P	NM_052888	NP_443120	Q96QE4	LR37B_HUMAN			1	706	+		Myeloproliferative disorder(56;0.0255)|all_hematologic(16;0.111)|Ovarian(249;0.182)|Breast(31;0.244)	232			Extracellular (Potential).		Q17RC9|Q5YKG6	Missense_Mutation	SNP	ENST00000341671.7	37	c.695T>C	CCDS32609.1	.	.	.	.	.	.	.	.	.	.	N	9.655	1.142481	0.21205	.	.	ENSG00000185158	ENST00000543378;ENST00000327564;ENST00000394713;ENST00000341671	T;T;T;T	0.63913	0.02;-0.07;1.06;-0.05	1.61	0.502	0.16932	.	.	.	.	.	T	0.31167	0.0788	N	0.14661	0.345	0.09310	N	1	P;B	0.46064	0.872;0.126	B;B	0.30316	0.114;0.04	T	0.16897	-1.0387	9	0.34782	T	0.22	.	3.2721	0.06886	0.0:0.239:0.0:0.761	.	232;232	Q17RC9;Q96QE4	.;LR37B_HUMAN	P	150;259;232;232	ENSP00000443345:L150P;ENSP00000332536:L259P;ENSP00000378202:L232P;ENSP00000340519:L232P	ENSP00000332536:L259P	L	+	2	0	LRRC37B	27372973	0.000000	0.05858	0.000000	0.03702	0.285000	0.27093	-0.426000	0.07008	0.111000	0.17947	0.249000	0.18162	CTG		PASS	0.502	LRRC37B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446508.1	NM_052888		39	118	39	118	---	---	---	---
RHBDL3	162494	broad.mit.edu	37	17	30632392	30632392	+	Missense_Mutation	SNP	G	G	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr17:30632392G>T	ENST00000269051.4	+	7	828	c.814G>T	c.(814-816)Gct>Tct	p.A272S	RHBDL3_ENST00000536287.1_Missense_Mutation_p.A174S|RHBDL3_ENST00000538145.1_Missense_Mutation_p.A264S	NM_138328.2	NP_612201.1	P58872	RHBL3_HUMAN	rhomboid, veinlet-like 3 (Drosophila)	272						integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|serine-type endopeptidase activity (GO:0004252)	p.A272S(1)		breast(1)|endometrium(1)|large_intestine(5)|lung(5)|ovary(1)|prostate(2)|skin(1)	16		Breast(31;0.116)|Ovarian(249;0.182)				TGACATGACCGCTCCAGTCGT	0.577																																						uc002hhe.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(814-816)GCT>TCT		rhomboid protease 3							171.0	137.0	148.0					17																	30632392		2203	4300	6503	SO:0001583	missense	162494				proteolysis	integral to membrane	calcium ion binding|serine-type endopeptidase activity	g.chr17:30632392G>T	AJ313480	CCDS32613.1	17q11.2	2013-01-10				ENSG00000141314		"""EF-hand domain containing"""	16502	protein-coding gene	gene with protein product			"""rhomboid, veinlet-like 4 (Drosophila)"""	RHBDL4		11900977	Standard	XM_006721733		Approved	VRHO	uc002hhe.1	P58872		ENST00000269051.4:c.814G>T	17.37:g.30632392G>T	ENSP00000269051:p.Ala272Ser					RHBDL3_uc010csw.1_Missense_Mutation_p.A264S|RHBDL3_uc010csx.1_Intron|RHBDL3_uc010csy.1_Missense_Mutation_p.A174S|RHBDL3_uc002hhf.1_Missense_Mutation_p.A174S	p.A272S	NM_138328	NP_612201	P58872	RHBL3_HUMAN			7	828	+		Breast(31;0.116)|Ovarian(249;0.182)	272					A6NMH1|Q495Y4|Q495Y5|Q495Y6	Missense_Mutation	SNP	ENST00000269051.4	37	c.814G>T	CCDS32613.1	.	.	.	.	.	.	.	.	.	.	G	28.7	4.945427	0.92593	.	.	ENSG00000141314	ENST00000269051;ENST00000538145;ENST00000536287	T;T;T	0.12984	2.63;2.63;2.63	6.02	6.02	0.97574	Peptidase S54, rhomboid domain (1);	0.000000	0.85682	D	0.000000	T	0.24624	0.0597	N	0.16368	0.405	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.02365	-1.1170	10	0.46703	T	0.11	.	18.3103	0.90197	0.0:0.0:1.0:0.0	.	264;272	Q495Y5;P58872	.;RHBL3_HUMAN	S	272;264;174	ENSP00000269051:A272S;ENSP00000442092:A264S;ENSP00000466508:A174S	ENSP00000269051:A272S	A	+	1	0	RHBDL3	27656505	1.000000	0.71417	0.440000	0.26846	0.684000	0.39900	8.600000	0.90860	2.857000	0.98124	0.650000	0.86243	GCT		PASS	0.577	RHBDL3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000447120.1	NM_138328		19	91	19	91	---	---	---	---
CDK5R1	8851	broad.mit.edu	37	17	30815061	30815061	+	Silent	SNP	G	G	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr17:30815061G>T	ENST00000313401.3	+	2	1112	c.423G>T	c.(421-423)cgG>cgT	p.R141R		NM_003885.2	NP_003876.1	Q15078	CD5R1_HUMAN	cyclin-dependent kinase 5, regulatory subunit 1 (p35)	141					axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|brain development (GO:0007420)|cell proliferation (GO:0008283)|cerebellum development (GO:0021549)|embryo development (GO:0009790)|ephrin receptor signaling pathway (GO:0048013)|G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)|hippocampus development (GO:0021766)|ionotropic glutamate receptor signaling pathway (GO:0035235)|layer formation in cerebral cortex (GO:0021819)|negative regulation of axon extension (GO:0030517)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron cell-cell adhesion (GO:0007158)|neuron differentiation (GO:0030182)|neuron migration (GO:0001764)|neuron projection development (GO:0031175)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of protein targeting to membrane (GO:0090314)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of dendritic spine morphogenesis (GO:0061001)|regulation of microtubule cytoskeleton organization (GO:0070507)|regulation of neuron differentiation (GO:0045664)|rhythmic process (GO:0048511)|serine phosphorylation of STAT3 protein (GO:0033136)|superior olivary nucleus maturation (GO:0021722)	axon (GO:0030424)|contractile fiber (GO:0043292)|cyclin-dependent protein kinase 5 holoenzyme complex (GO:0016533)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|growth cone (GO:0030426)|membrane (GO:0016020)|neuromuscular junction (GO:0031594)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	cadherin binding (GO:0045296)|calcium ion binding (GO:0005509)|cyclin-dependent protein kinase 5 activator activity (GO:0016534)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|kinase activity (GO:0016301)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activator activity (GO:0043539)	p.R141R(1)		cervix(1)|endometrium(1)|large_intestine(2)|lung(3)|ovary(1)	8		Breast(31;0.159)|Ovarian(249;0.182)	BRCA - Breast invasive adenocarcinoma(9;0.0938)			CGCCCAAACGGGTCATCGTCC	0.687																																						uc002hhn.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(421-423)CGG>CGT		cyclin-dependent kinase 5, regulatory subunit 1							38.0	41.0	40.0					17																	30815061		2203	4300	6503	SO:0001819	synonymous_variant	8851				axon guidance|axonal fasciculation|brain development|cell proliferation|embryo development|ionotropic glutamate receptor signaling pathway|muscarinic acetylcholine receptor signaling pathway|negative regulation of transcription, DNA-dependent|neuron cell-cell adhesion|neuron migration|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of neuron apoptosis|regulation of cyclin-dependent protein kinase activity|regulation of neuron differentiation	axon|contractile fiber|cyclin-dependent protein kinase 5 holoenzyme complex|cytosol|dendritic spine|growth cone|neuromuscular junction|neuronal cell body|perinuclear region of cytoplasm|plasma membrane	cadherin binding|calcium ion binding|protein kinase binding	g.chr17:30815061G>T	X80343	CCDS11273.1	17q12	2006-03-28			ENSG00000176749	ENSG00000176749			1775	protein-coding gene	gene with protein product		603460				8090221	Standard	NM_003885		Approved	p35nck5a, Nck5a	uc002hhn.3	Q15078	OTTHUMG00000132814	ENST00000313401.3:c.423G>T	17.37:g.30815061G>T						CDK5R1_uc010wca.1_Silent_p.R141R|CDK5R1_uc010ctc.2_5'UTR	p.R141R	NM_003885	NP_003876	Q15078	CD5R1_HUMAN	BRCA - Breast invasive adenocarcinoma(9;0.0938)		2	644	+		Breast(31;0.159)|Ovarian(249;0.182)	141					E1P664|Q5U0G3	Silent	SNP	ENST00000313401.3	37	c.423G>T	CCDS11273.1																																																																																				PASS	0.687	CDK5R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256264.1	NM_003885		14	38	14	38	---	---	---	---
CCL14	6358	broad.mit.edu	37	17	34311434	34311434	+	Missense_Mutation	SNP	G	G	C			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr17:34311434G>C	ENST00000394509.4	-	2	242	c.134C>G	c.(133-135)cCg>cGg	p.P45R	CTB-186H2.3_ENST00000591669.1_5'Flank|CCL16_ENST00000293275.3_5'Flank|CCL14_ENST00000480944.2_Missense_Mutation_p.P67R|CCL15-CCL14_ENST00000481427.2_3'UTR|CCL14_ENST00000536149.1_Missense_Mutation_p.P61R|CCL14_ENST00000586216.1_Missense_Mutation_p.P45R|CTB-186H2.3_ENST00000593057.1_Intron|CCL14_ENST00000435911.2_Missense_Mutation_p.P61R			Q16627	CCL14_HUMAN	chemokine (C-C motif) ligand 14	45					cell chemotaxis (GO:0060326)|cellular calcium ion homeostasis (GO:0006874)|immune response (GO:0006955)|positive regulation of cell proliferation (GO:0008284)	extracellular space (GO:0005615)		p.P45R(1)		large_intestine(1)|lung(6)	7		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		CCGCTGACGCGGGATCTTGTA	0.557																																						uc010wcr.1																			1	Substitution - Missense(1)		lung(1)		0						c.(133-135)CCG>CGG		chemokine (C-C motif) ligand 14 isoform 1							106.0	94.0	98.0					17																	34311434		2203	4300	6503	SO:0001583	missense	6358				cellular calcium ion homeostasis|immune response|positive regulation of cell proliferation	extracellular space	chemokine activity|signal transducer activity	g.chr17:34311434G>C	Z49270	CCDS32624.1, CCDS45652.1	17q11.2	2014-04-10	2002-08-22	2002-08-23	ENSG00000213494	ENSG00000276409		"""Chemokine ligands"", ""Endogenous ligands"""	10612	protein-coding gene	gene with protein product		601392	"""small inducible cytokine subfamily A (Cys-Cys), member 14"""	SCYA14		8661057	Standard	NM_032963		Approved	HCC-1, HCC-3, NCC-2, SCYL2, CKb1, MCIF	uc010wcq.1	Q16627	OTTHUMG00000188403	ENST00000394509.4:c.134C>G	17.37:g.34311434G>C	ENSP00000378017:p.Pro45Arg					CCL16_uc002hkl.2_5'Flank|CCL16_uc002hkm.2_5'Flank|CCL14_uc010wcq.1_Missense_Mutation_p.P61R|CCL14_uc002hkn.2_RNA|CCL14-CCL15_uc010wcs.1_RNA|CCL14-CCL15_uc010wct.1_RNA|uc002hkq.2_5'Flank	p.P45R	NM_032963	NP_116739	Q16627	CCL14_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)	2	213	-		Ovarian(249;0.17)	45					E1P649|E1P650|Q13954	Missense_Mutation	SNP	ENST00000394509.4	37	c.134C>G	CCDS32624.1	.	.	.	.	.	.	.	.	.	.	G	13.24	2.178063	0.38511	.	.	ENSG00000213494	ENST00000394509;ENST00000536149;ENST00000435911	T;T;T	0.06933	3.24;3.24;3.24	4.75	-0.992	0.10232	CC chemokine, conserved site (1);Chemokine interleukin-8-like domain (3);	0.000000	0.56097	U	0.000030	T	0.05135	0.0137	.	.	.	0.09310	N	1	B;B	0.20052	0.041;0.033	B;B	0.23419	0.046;0.027	T	0.30995	-0.9959	9	0.66056	D	0.02	.	1.2747	0.02028	0.2617:0.1481:0.4377:0.1525	.	45;61	Q16627;Q16627-2	CCL14_HUMAN;.	R	45;61;61	ENSP00000378017:P45R;ENSP00000441771:P61R;ENSP00000409197:P61R	ENSP00000378017:P45R	P	-	2	0	CCL14	31335547	0.009000	0.17119	0.000000	0.03702	0.002000	0.02628	0.175000	0.16762	-0.316000	0.08690	-0.217000	0.12591	CCG		PASS	0.557	CCL14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000272892.2	NM_032962		22	57	22	57	---	---	---	---
MYO19	80179	broad.mit.edu	37	17	34858937	34858937	+	Splice_Site	SNP	C	C	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr17:34858937C>T	ENST00000431794.3	-	21	2602	c.2080G>A	c.(2080-2082)Gaa>Aaa	p.E694K	MYO19_ENST00000268852.9_Splice_Site_p.E494K	NM_001163735.1	NP_001157207.1	Q96H55	MYO19_HUMAN	myosin XIX	694	Myosin motor.					cytoplasm (GO:0005737)|mitochondrial outer membrane (GO:0005741)|myosin complex (GO:0016459)	ATP binding (GO:0005524)|motor activity (GO:0003774)	p.E694K(2)		endometrium(6)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|urinary_tract(1)	20		Breast(25;0.00957)|Ovarian(249;0.17)	Kidney(155;0.104)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0185)		TCCCACTCACCAGGGAGCCCT	0.522																																						uc010wcy.1																			2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(2080-2082)GAA>AAA		myosin XIX isoform 2							138.0	145.0	143.0					17																	34858937		1942	4155	6097	SO:0001630	splice_region_variant	80179					mitochondrial outer membrane|myosin complex	actin binding|ATP binding|motor activity	g.chr17:34858937C>T	BC008900	CCDS45654.1, CCDS54112.1, CCDS59283.1	17q12	2014-08-12	2007-09-26	2007-09-26	ENSG00000278259	ENSG00000278259		"""Myosins / Myosin superfamily : Class XIX"""	26234	protein-coding gene	gene with protein product			"""myosin head domain containing 1"""	MYOHD1		17877792, 19932026	Standard	NM_001033580		Approved	FLJ22865	uc010wcy.2	Q96H55	OTTHUMG00000188437	ENST00000431794.3:c.2080+1G>A	17.37:g.34858937C>T						MYO19_uc002hmw.2_Missense_Mutation_p.E494K|MYO19_uc010cuu.2_RNA	p.E694K	NM_001163735	NP_001157207	Q96H55	MYO19_HUMAN	Kidney(155;0.104)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0185)	22	3072	-		Breast(25;0.00957)|Ovarian(249;0.17)	694					Q59GS4|Q9H5X2	Missense_Mutation	SNP	ENST00000431794.3	37	c.2080G>A	CCDS54112.1	.	.	.	.	.	.	.	.	.	.	C	14.59	2.579645	0.46006	.	.	ENSG00000141140	ENST00000431794;ENST00000268852	D;D	0.89270	-2.28;-2.49	5.25	4.17	0.49024	Myosin head, motor domain (1);	.	.	.	.	D	0.85353	0.5677	M	0.63428	1.95	0.80722	D	1	B;B	0.06786	0.0;0.001	B;B	0.09377	0.001;0.004	T	0.79543	-0.1760	8	.	.	.	.	9.8251	0.40908	0.0:0.8949:0.0:0.1051	.	694;494	Q96H55;Q96H55-4	MYO19_HUMAN;.	K	694;494	ENSP00000409936:E694K;ENSP00000268852:E494K	.	E	-	1	0	MYO19	31933050	0.991000	0.36638	0.983000	0.44433	0.690000	0.40134	1.313000	0.33585	1.185000	0.42971	0.563000	0.77884	GAA		PASS	0.522	MYO19-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451074.1	NM_025109	Missense_Mutation	48	118	48	118	---	---	---	---
DHRS11	79154	broad.mit.edu	37	17	34951410	34951410	+	Missense_Mutation	SNP	G	G	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr17:34951410G>T	ENST00000251312.5	+	2	369	c.157G>T	c.(157-159)Gct>Tct	p.A53S	DHRS11_ENST00000590554.1_5'UTR|DHRS11_ENST00000394445.1_3'UTR	NM_024308.3	NP_077284.2	Q6UWP2	DHR11_HUMAN	dehydrogenase/reductase (SDR family) member 11	53						extracellular region (GO:0005576)	oxidoreductase activity (GO:0016491)	p.A53S(1)		endometrium(1)|lung(4)	5						GGAGCTGGCTGCTGAATGTAA	0.562																																						uc002hnd.2																			1	Substitution - Missense(1)		lung(1)		0						c.(157-159)GCT>TCT		short-chain dehydrogenase/reductase precursor							61.0	62.0	62.0					17																	34951410		2203	4300	6503	SO:0001583	missense	79154					extracellular region	binding|oxidoreductase activity	g.chr17:34951410G>T		CCDS11315.2	17q12	2014-05-06			ENSG00000108272	ENSG00000278535		"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 1"""	28639	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 24C, member 1"""					12975309, 19027726	Standard	NM_024308		Approved	MGC4172, SDR24C1	uc002hnd.3	Q6UWP2	OTTHUMG00000188442	ENST00000251312.5:c.157G>T	17.37:g.34951410G>T	ENSP00000251312:p.Ala53Ser						p.A53S	NM_024308	NP_077284	Q6UWP2	DHR11_HUMAN			2	371	+			53					B2RDZ3|Q9BUC7|Q9H674	Missense_Mutation	SNP	ENST00000251312.5	37	c.157G>T	CCDS11315.2	.	.	.	.	.	.	.	.	.	.	G	13.41	2.228485	0.39399	.	.	ENSG00000108272	ENST00000251312;ENST00000394445	D	0.88818	-2.43	5.91	5.91	0.95273	NAD(P)-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.83353	0.5236	L	0.31207	0.915	0.80722	D	1	B	0.11235	0.004	B	0.21151	0.033	T	0.77381	-0.2609	10	0.08837	T	0.75	-2.5398	19.2934	0.94112	0.0:0.0:1.0:0.0	.	53	Q6UWP2	DHR11_HUMAN	S	53	ENSP00000251312:A53S	ENSP00000251312:A53S	A	+	1	0	DHRS11	32025523	1.000000	0.71417	0.999000	0.59377	0.994000	0.84299	7.376000	0.79658	2.808000	0.96608	0.655000	0.94253	GCT		PASS	0.562	DHRS11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256681.2	NM_024308		11	42	11	42	---	---	---	---
STAC2	342667	broad.mit.edu	37	17	37369250	37369250	+	Missense_Mutation	SNP	G	G	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr17:37369250G>T	ENST00000333461.5	-	10	1498	c.1129C>A	c.(1129-1131)Cag>Aag	p.Q377K		NM_198993.3	NP_945344.1	Q6ZMT1	STAC2_HUMAN	SH3 and cysteine rich domain 2	377					intracellular signal transduction (GO:0035556)		metal ion binding (GO:0046872)	p.Q377K(1)		NS(2)|endometrium(1)|kidney(2)|large_intestine(1)|lung(7)|pancreas(1)|prostate(1)|skin(2)	17						GCACTCACCTGGTTCTCCTTG	0.622																																						uc002hrs.2																			1	Substitution - Missense(1)		lung(1)	pancreas(1)	1						c.(1129-1131)CAG>AAG		SH3 and cysteine rich domain 2							71.0	69.0	70.0					17																	37369250		2203	4300	6503	SO:0001583	missense	342667				intracellular signal transduction		metal ion binding	g.chr17:37369250G>T	AJ608762	CCDS11335.1	17q21.2	2012-11-19			ENSG00000141750	ENSG00000141750			23990	protein-coding gene	gene with protein product							Standard	NM_198993		Approved	24b2	uc002hrs.3	Q6ZMT1	OTTHUMG00000179039	ENST00000333461.5:c.1129C>A	17.37:g.37369250G>T	ENSP00000327509:p.Gln377Lys					STAC2_uc010cvt.2_Missense_Mutation_p.Q235K	p.Q377K	NM_198993	NP_945344	Q6ZMT1	STAC2_HUMAN			10	1348	-			377					Q32MA3	Missense_Mutation	SNP	ENST00000333461.5	37	c.1129C>A	CCDS11335.1	.	.	.	.	.	.	.	.	.	.	g	23.1	4.374851	0.82573	.	.	ENSG00000141750	ENST00000333461	D	0.82344	-1.6	5.02	4.03	0.46877	Src homology-3 domain (1);	0.129474	0.53938	D	0.000048	D	0.89406	0.6706	M	0.70595	2.14	0.54753	D	0.999986	D	0.63880	0.993	D	0.67548	0.952	D	0.90265	0.4303	10	0.72032	D	0.01	1.7075	14.2517	0.66023	0.0:0.1508:0.8492:0.0	.	377	Q6ZMT1	STAC2_HUMAN	K	377	ENSP00000327509:Q377K	ENSP00000327509:Q377K	Q	-	1	0	STAC2	34622776	1.000000	0.71417	1.000000	0.80357	0.870000	0.49936	8.751000	0.91628	1.094000	0.41399	0.313000	0.20887	CAG		PASS	0.622	STAC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444533.2	NM_198993		32	84	32	84	---	---	---	---
CDK12	51755	broad.mit.edu	37	17	37687206	37687206	+	Silent	SNP	G	G	T	rs375237735		TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr17:37687206G>T	ENST00000447079.4	+	14	4143	c.4110G>T	c.(4108-4110)ctG>ctT	p.L1370L	CDK12_ENST00000430627.2_Silent_p.L1361L	NM_015083.1|NM_016507.2	NP_055898.1|NP_057591.2	Q9NYV4	CDK12_HUMAN	cyclin-dependent kinase 12	1370					mRNA processing (GO:0006397)|phosphorylation of RNA polymerase II C-terminal domain (GO:0070816)|protein autophosphorylation (GO:0046777)|regulation of MAP kinase activity (GO:0043405)|RNA splicing (GO:0008380)	cyclin K-CDK12 complex (GO:0002944)|nuclear cyclin-dependent protein kinase holoenzyme complex (GO:0019908)|nuclear speck (GO:0016607)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|cyclin binding (GO:0030332)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|protein kinase activity (GO:0004672)|RNA polymerase II carboxy-terminal domain kinase activity (GO:0008353)	p.L1370L(1)		NS(4)|breast(3)|endometrium(5)|kidney(4)|large_intestine(11)|lung(23)|ovary(11)|prostate(4)|skin(2)|urinary_tract(3)	70						TCCAGACCCTGGTGAAGAACA	0.552			"""Mis, N, F"""		serous ovarian					TCGA Ovarian(9;0.13)																												uc010cvv.2				Rec	yes		17	17q12	51755		cyclin-dependent kinase 12			E					1	Substitution - coding silent(1)		lung(1)	ovary(10)|lung(4)|breast(2)|skin(2)|large_intestine(1)	19						c.(4108-4110)CTG>CTT		Cdc2-related kinase, arginine/serine-rich							69.0	68.0	68.0					17																	37687206		2203	4300	6503	SO:0001819	synonymous_variant	51755				mRNA processing|phosphorylation of RNA polymerase II C-terminal domain|protein autophosphorylation|regulation of MAP kinase activity|RNA splicing	nuclear cyclin-dependent protein kinase holoenzyme complex|nuclear speck|nucleolus	ATP binding|cyclin-dependent protein kinase activity|protein binding|RNA polymerase II carboxy-terminal domain kinase activity	g.chr17:37687206G>T	AF227198	CCDS11337.1, CCDS45666.1	17q12	2011-10-25	2009-12-16	2009-12-16	ENSG00000167258	ENSG00000167258		"""Cyclin-dependent kinases"""	24224	protein-coding gene	gene with protein product	"""CDC2 related protein kinase 7"""	615514	"""Cdc2-related kinase, arginine/serine-rich"""	CRKRS		10048485, 11683387, 19884882	Standard	XM_005257456		Approved	CRK7, CRKR, KIAA0904	uc010cvv.3	Q9NYV4	OTTHUMG00000133214	ENST00000447079.4:c.4110G>T	17.37:g.37687206G>T		TCGA Ovarian(9;0.13)				CDK12_uc002hrw.3_Silent_p.L1361L	p.L1370L	NM_016507	NP_057591	Q9NYV4	CDK12_HUMAN			14	4696	+			1370					A7E2B2|B4DYX4|B9EIQ6|O94978	Silent	SNP	ENST00000447079.4	37	c.4110G>T	CCDS11337.1																																																																																				PASS	0.552	CDK12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256941.4	NM_016507		15	40	15	40	---	---	---	---
NEUROD2	4761	broad.mit.edu	37	17	37762558	37762558	+	Nonsense_Mutation	SNP	C	C	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr17:37762558C>A	ENST00000302584.4	-	2	515	c.295G>T	c.(295-297)Gag>Tag	p.E99*		NM_006160.3	NP_006151.3	Q15784	NDF2_HUMAN	neuronal differentiation 2	99					associative learning (GO:0008306)|behavioral fear response (GO:0001662)|cellular response to calcium ion (GO:0071277)|cellular response to electrical stimulus (GO:0071257)|cerebellar cortex development (GO:0021695)|negative regulation of synapse maturation (GO:2000297)|nervous system development (GO:0007399)|neuron development (GO:0048666)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic plasticity (GO:0031915)|protein ubiquitination (GO:0016567)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	nucleus (GO:0005634)	E-box binding (GO:0070888)|protein heterodimerization activity (GO:0046982)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)	p.E99*(1)		endometrium(1)|kidney(1)|large_intestine(2)|lung(4)	8	Lung NSC(9;1.15e-09)|all_lung(9;6.24e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)		UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Lung(15;0.00549)|LUAD - Lung adenocarcinoma(14;0.0664)			TTGGGCCGCTCGCCCTCCGCC	0.677																																						uc002hry.2																			1	Substitution - Nonsense(1)		lung(1)		0						c.(295-297)GAG>TAG		neurogenic differentiation 2							33.0	27.0	29.0					17																	37762558		2203	4299	6502	SO:0001587	stop_gained	4761				cellular response to calcium ion|cellular response to electrical stimulus|cerebellar cortex development|negative regulation of synapse maturation|positive regulation of calcium-mediated signaling|positive regulation of neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of synapse maturation|positive regulation of synaptic plasticity|protein ubiquitination|regulation of transcription from RNA polymerase II promoter	nucleus	E-box binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|transcription corepressor activity	g.chr17:37762558C>A	U58681	CCDS11338.1	17q12	2013-05-21	2012-02-22		ENSG00000171532	ENSG00000171532		"""Basic helix-loop-helix proteins"""	7763	protein-coding gene	gene with protein product		601725	"""neurogenic differentiation 2"""			9119405	Standard	XM_005257409		Approved	NDRF, bHLHa1	uc002hry.3	Q15784	OTTHUMG00000133211	ENST00000302584.4:c.295G>T	17.37:g.37762558C>A	ENSP00000306754:p.Glu99*						p.E99*	NM_006160	NP_006151	Q15784	NDF2_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Lung(15;0.00549)|LUAD - Lung adenocarcinoma(14;0.0664)		2	495	-	Lung NSC(9;1.15e-09)|all_lung(9;6.24e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)		99					Q8TBI7|Q9UQC6	Nonsense_Mutation	SNP	ENST00000302584.4	37	c.295G>T	CCDS11338.1	.	.	.	.	.	.	.	.	.	.	C	36	5.670373	0.96754	.	.	ENSG00000171532	ENST00000302584	.	.	.	5.25	5.25	0.73442	.	0.118890	0.56097	U	0.000034	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.29301	T	0.29	-0.4287	17.6108	0.88053	0.0:1.0:0.0:0.0	.	.	.	.	X	99	.	ENSP00000306754:E99X	E	-	1	0	NEUROD2	35016084	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	5.892000	0.69790	2.451000	0.82905	0.511000	0.50034	GAG		PASS	0.677	NEUROD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256931.2	NM_006160		3	13	3	13	---	---	---	---
KRTAP9-8	83901	broad.mit.edu	37	17	39394593	39394593	+	Missense_Mutation	SNP	C	C	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr17:39394593C>A	ENST00000254072.6	+	1	297	c.290C>A	c.(289-291)gCa>gAa	p.A97E		NM_031963.2	NP_114169.2	Q9BYQ0	KRA98_HUMAN	keratin associated protein 9-8	97	15 X 5 AA repeats of C-C-[RQVSGE]- [SPSNQ]-[TASPI].					keratin filament (GO:0045095)		p.A97E(1)		lung(8)|ovary(1)|prostate(1)	10		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000397)			AGCTCCTGTGCACCTGTGTAC	0.622																																						uc002hwh.3																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(289-291)GCA>GAA		keratin associated protein 9.8							92.0	104.0	100.0					17																	39394593		2105	4297	6402	SO:0001583	missense	83901					keratin filament		g.chr17:39394593C>A	AJ406950	CCDS42334.1	17q21.2	2013-06-25			ENSG00000187272	ENSG00000187272		"""Keratin associated proteins"""	17231	protein-coding gene	gene with protein product						11279113	Standard	NM_031963		Approved	KAP9.8	uc002hwh.4	Q9BYQ0	OTTHUMG00000133604	ENST00000254072.6:c.290C>A	17.37:g.39394593C>A	ENSP00000254072:p.Ala97Glu					KRTAP9-9_uc010wfq.1_Intron	p.A97E	NM_031963	NP_114169	Q9BYQ0	KRA98_HUMAN	STAD - Stomach adenocarcinoma(17;0.000397)		1	324	+		Breast(137;0.000496)	97			15 X 5 AA repeats of C-C-[RQVSGE]- [SPSNQ]-[TASPI].			Missense_Mutation	SNP	ENST00000254072.6	37	c.290C>A	CCDS42334.1	.	.	.	.	.	.	.	.	.	.	.	8.952	0.968515	0.18659	.	.	ENSG00000187272	ENST00000254072	T	0.01287	5.05	2.38	-0.0439	0.13857	.	.	.	.	.	T	0.02380	0.0073	L	0.40543	1.245	0.09310	N	1	D	0.63046	0.992	P	0.61275	0.886	T	0.37572	-0.9700	9	0.09084	T	0.74	.	3.4057	0.07340	0.0:0.4498:0.2427:0.3075	.	97	Q9BYQ0	KRA98_HUMAN	E	97	ENSP00000254072:A97E	ENSP00000254072:A97E	A	+	2	0	KRTAP9-8	36648119	0.000000	0.05858	0.000000	0.03702	0.227000	0.25037	-2.973000	0.00666	-0.103000	0.12175	0.400000	0.26472	GCA		PASS	0.622	KRTAP9-8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257712.1			31	66	31	66	---	---	---	---
HAP1	9001	broad.mit.edu	37	17	39888337	39888337	+	Missense_Mutation	SNP	C	C	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr17:39888337C>T	ENST00000310778.5	-	4	757	c.748G>A	c.(748-750)Gat>Aat	p.D250N	HAP1_ENST00000341193.5_Missense_Mutation_p.D258N|HAP1_ENST00000347901.4_Missense_Mutation_p.D250N|JUP_ENST00000540235.1_Intron|RN7SL399P_ENST00000471648.2_RNA|HAP1_ENST00000393939.2_Missense_Mutation_p.D250N			P54257	HAP1_HUMAN	huntingtin-associated protein 1	250	HAP1 N-terminal.				anterograde axon cargo transport (GO:0008089)|autophagy (GO:0006914)|brain development (GO:0007420)|cell projection organization (GO:0030030)|exocytosis (GO:0006887)|negative regulation of beta-amyloid formation (GO:1902430)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of epidermal growth factor receptor signaling pathway (GO:0045742)|positive regulation of inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0031587)|positive regulation of neurotrophin production (GO:0032901)|positive regulation of nonmotile primary cilium assembly (GO:1902857)|positive regulation of synaptic transmission, GABAergic (GO:0032230)|protein localization (GO:0008104)|protein transport (GO:0015031)|regulation of exocytosis (GO:0017157)|regulation of organelle transport along microtubule (GO:1902513)|retrograde axon cargo transport (GO:0008090)|synaptic transmission (GO:0007268)|vesicle transport along microtubule (GO:0047496)	actin cytoskeleton (GO:0015629)|cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytoskeleton (GO:0005856)|endoplasmic reticulum (GO:0005783)|inclusion body (GO:0016234)|lysosome (GO:0005764)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|synapse (GO:0045202)	brain-derived neurotrophic factor binding (GO:0048403)|ion channel binding (GO:0044325)	p.D250N(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(5)|ovary(4)|skin(1)	21		Breast(137;0.000162)	BRCA - Breast invasive adenocarcinoma(4;0.0677)			AGGAGCTCATCCCGCAAGTTC	0.532																																						uc002hxm.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(748-750)GAT>AAT		huntingtin-associated protein 1 isoform 2							92.0	92.0	92.0					17																	39888337		2203	4300	6503	SO:0001583	missense	9001				brain development|protein localization|synaptic transmission	actin cytoskeleton	protein binding	g.chr17:39888337C>T	AF040723	CCDS11406.1, CCDS42338.1, CCDS42339.1	17q21.2-q21.3	2008-04-23	2008-04-23		ENSG00000173805	ENSG00000173805			4812	protein-coding gene	gene with protein product	"""neuroan 1"""	600947		HAP2		7477378, 9668110	Standard	NM_177977		Approved	HLP, hHLP1, HIP5	uc002hxn.1	P54257	OTTHUMG00000133498	ENST00000310778.5:c.748G>A	17.37:g.39888337C>T	ENSP00000309392:p.Asp250Asn					JUP_uc010wfs.1_Intron|HAP1_uc002hxn.1_Missense_Mutation_p.D250N|HAP1_uc002hxo.1_Missense_Mutation_p.D258N|HAP1_uc002hxp.1_Missense_Mutation_p.D250N	p.D250N	NM_177977	NP_817084	P54257	HAP1_HUMAN	BRCA - Breast invasive adenocarcinoma(4;0.0677)		4	760	-		Breast(137;0.000162)	250			HAP1 N-terminal.		A8MQB5|O75358|Q59GK4|Q9H4G3|Q9HA98|Q9NY90	Missense_Mutation	SNP	ENST00000310778.5	37	c.748G>A		.	.	.	.	.	.	.	.	.	.	C	17.18	3.324939	0.60634	.	.	ENSG00000173805	ENST00000393939;ENST00000310778;ENST00000347901;ENST00000341193	T;T;T;T	0.66460	2.09;2.09;2.09;-0.21	3.46	3.46	0.39613	.	0.000000	0.41938	D	0.000793	T	0.76076	0.3937	M	0.64170	1.965	0.42698	D	0.993606	D;D;D;D	0.89917	0.996;0.998;0.994;1.0	D;D;D;D	0.81914	0.993;0.995;0.985;0.993	T	0.75783	-0.3196	10	0.41790	T	0.15	-18.1324	10.6139	0.45439	0.0:1.0:0.0:0.0	.	250;258;250;250	P54257-3;P54257-4;P54257-2;P54257	.;.;.;HAP1_HUMAN	N	250;250;250;258	ENSP00000377513:D250N;ENSP00000309392:D250N;ENSP00000334002:D250N;ENSP00000343170:D258N	ENSP00000309392:D250N	D	-	1	0	HAP1	37141863	1.000000	0.71417	0.886000	0.34754	0.464000	0.32679	4.380000	0.59581	1.928000	0.55862	0.561000	0.74099	GAT		PASS	0.532	HAP1-006	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000389619.1	NM_003949		26	51	26	51	---	---	---	---
AOC2	314	broad.mit.edu	37	17	40997010	40997010	+	Missense_Mutation	SNP	A	A	G			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr17:40997010A>G	ENST00000253799.3	+	1	394	c.367A>G	c.(367-369)Atc>Gtc	p.I123V	AOC2_ENST00000452774.2_Missense_Mutation_p.I123V	NM_009590.2	NP_033720.2	O75106	AOC2_HUMAN	amine oxidase, copper containing 2 (retina-specific)	123					amine metabolic process (GO:0009308)|catecholamine metabolic process (GO:0006584)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	aliphatic-amine oxidase activity (GO:0052595)|aminoacetone:oxygen oxidoreductase(deaminating) activity (GO:0052594)|copper ion binding (GO:0005507)|electron carrier activity (GO:0009055)|phenethylamine:oxygen oxidoreductase (deaminating) activity (GO:0052596)|primary amine oxidase activity (GO:0008131)|quinone binding (GO:0048038)|tryptamine:oxygen oxidoreductase (deaminating) activity (GO:0052593)	p.I123V(1)		NS(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(14)|ovary(4)|skin(2)	30		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.156)		GGCACTGGCCATCGTCCTCTT	0.657																																						uc002ibu.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(367-369)ATC>GTC		amine oxidase, copper containing 2 isoform b							32.0	32.0	32.0					17																	40997010		2203	4299	6502	SO:0001583	missense	314				catecholamine metabolic process|visual perception	cytoplasm|plasma membrane	aliphatic-amine oxidase activity|aminoacetone:oxygen oxidoreductase(deaminating) activity|copper ion binding|electron carrier activity|phenethylamine:oxygen oxidoreductase (deaminating) activity|primary amine oxidase activity|quinone binding|tryptamine:oxygen oxidoreductase (deaminating) activity	g.chr17:40997010A>G	AF081363	CCDS11443.1, CCDS45690.1	17q21	2012-07-13				ENSG00000131480	1.4.3.21		549	protein-coding gene	gene with protein product		602268				9119395, 9722954	Standard	NM_001158		Approved	RAO, DAO2	uc002ibu.3	O75106		ENST00000253799.3:c.367A>G	17.37:g.40997010A>G	ENSP00000253799:p.Ile123Val					AOC2_uc002ibt.2_Missense_Mutation_p.I123V	p.I123V	NM_009590	NP_033720	O75106	AOC2_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.156)	1	402	+		Breast(137;0.000143)	123					A5PKW2|O00120|O75105|Q4TTW5|Q9UNY0	Missense_Mutation	SNP	ENST00000253799.3	37	c.367A>G	CCDS11443.1	.	.	.	.	.	.	.	.	.	.	A	0.010	-1.764556	0.00651	.	.	ENSG00000131480	ENST00000253799;ENST00000452774	T;T	0.22336	1.96;1.96	4.8	3.68	0.42216	Copper amine oxidase, N2/N3-terminal (1);Copper amine oxidase, N-terminal (1);Copper amine oxidase, N2-terminal (1);	0.063958	0.64402	D	0.000009	T	0.06645	0.0170	N	0.03891	-0.335	0.33708	D	0.61546	B;B	0.09022	0.001;0.002	B;B	0.19666	0.026;0.02	T	0.30031	-0.9992	10	0.02654	T	1	-35.6461	5.4966	0.16805	0.7615:0.0:0.2385:0.0	.	123;123	O75106;O75106-2	AOC2_HUMAN;.	V	123	ENSP00000253799:I123V;ENSP00000406134:I123V	ENSP00000253799:I123V	I	+	1	0	AOC2	38250536	1.000000	0.71417	1.000000	0.80357	0.113000	0.19764	4.200000	0.58433	2.005000	0.58758	0.460000	0.39030	ATC		PASS	0.657	AOC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452442.1	NM_009590, NM_001158		8	42	8	42	---	---	---	---
AOC3	8639	broad.mit.edu	37	17	41006721	41006721	+	Missense_Mutation	SNP	C	C	A	rs574123445		TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr17:41006721C>A	ENST00000308423.2	+	2	2017	c.1857C>A	c.(1855-1857)agC>agA	p.S619R	AOC3_ENST00000591562.1_Missense_Mutation_p.S76R	NM_003734.2	NP_003725.1	Q16853	AOC3_HUMAN	amine oxidase, copper containing 3	619					amine metabolic process (GO:0009308)|cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|cell adhesion (GO:0007155)|inflammatory response (GO:0006954)|response to antibiotic (GO:0046677)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|microvillus (GO:0005902)|plasma membrane (GO:0005886)	aliphatic-amine oxidase activity (GO:0052595)|aminoacetone:oxygen oxidoreductase(deaminating) activity (GO:0052594)|calcium ion binding (GO:0005509)|cation channel activity (GO:0005261)|copper ion binding (GO:0005507)|phenethylamine:oxygen oxidoreductase (deaminating) activity (GO:0052596)|primary amine oxidase activity (GO:0008131)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|quinone binding (GO:0048038)|tryptamine:oxygen oxidoreductase (deaminating) activity (GO:0052593)	p.S619R(1)		breast(1)|central_nervous_system(4)|endometrium(4)|kidney(1)|large_intestine(8)|lung(14)|ovary(1)|skin(8)	41		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.156)	Hydralazine(DB01275)|Phenelzine(DB00780)	CCCAAAACAGCTCCATGGCGA	0.627																																					NSCLC(3;192 220 10664 11501 16477)	uc002ibv.2																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(2)|ovary(1)|skin(1)	4						c.(1855-1857)AGC>AGA		amine oxidase, copper containing 3 precursor	Hydralazine(DB01275)|Phenelzine(DB00780)						24.0	25.0	25.0					17																	41006721		2203	4300	6503	SO:0001583	missense	8639				amine metabolic process|cell adhesion|inflammatory response	cell surface|integral to membrane|plasma membrane	aliphatic-amine oxidase activity|aminoacetone:oxygen oxidoreductase(deaminating) activity|copper ion binding|phenethylamine:oxygen oxidoreductase (deaminating) activity|primary amine oxidase activity|protein homodimerization activity|quinone binding|tryptamine:oxygen oxidoreductase (deaminating) activity	g.chr17:41006721C>A	AF067406	CCDS11444.1, CCDS62198.1, CCDS74071.1	17q21	2013-05-08	2013-05-08			ENSG00000131471	1.4.3.21		550	protein-coding gene	gene with protein product	"""vascular adhesion protein 1"""	603735				9653080, 8972912	Standard	NM_003734		Approved	VAP1, HPAO, VAP-1	uc002ibv.4	Q16853		ENST00000308423.2:c.1857C>A	17.37:g.41006721C>A	ENSP00000312326:p.Ser619Arg						p.S619R	NM_003734	NP_003725	Q16853	AOC3_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.156)	2	2017	+		Breast(137;0.000143)	619			Extracellular (Potential).		B2RCI5|K7ESB3|L0L8N9|Q45F94	Missense_Mutation	SNP	ENST00000308423.2	37	c.1857C>A	CCDS11444.1	.	.	.	.	.	.	.	.	.	.	C	7.778	0.708953	0.15239	.	.	ENSG00000131471	ENST00000308423	T	0.04317	3.65	5.32	3.25	0.37280	Copper amine oxidase, C-terminal (3);	0.315357	0.37393	N	0.002120	T	0.15046	0.0363	M	0.72118	2.19	0.09310	N	0.999991	D	0.56746	0.977	P	0.62298	0.9	T	0.01532	-1.1331	10	0.54805	T	0.06	.	9.5437	0.39268	0.0:0.6684:0.0:0.3316	.	619	Q16853	AOC3_HUMAN	R	619	ENSP00000312326:S619R	ENSP00000312326:S619R	S	+	3	2	AOC3	38260247	0.266000	0.24112	0.867000	0.34043	0.138000	0.21146	0.292000	0.19011	1.220000	0.43490	0.563000	0.77884	AGC		PASS	0.627	AOC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452444.1	NM_003734		7	38	7	38	---	---	---	---
CD300LG	146894	broad.mit.edu	37	17	41931263	41931263	+	Nonsense_Mutation	SNP	C	C	A	rs149330626		TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr17:41931263C>A	ENST00000317310.4	+	4	611	c.570C>A	c.(568-570)taC>taA	p.Y190*	CD300LG_ENST00000293396.8_Intron|CD300LG_ENST00000586233.1_Intron|CD300LG_ENST00000539718.1_Nonsense_Mutation_p.Y190*|CD300LG_ENST00000377203.4_Nonsense_Mutation_p.Y156*	NM_145273.3	NP_660316.2	Q6UXG3	CLM9_HUMAN	CD300 molecule-like family member g	190					immune system process (GO:0002376)|immunoglobulin transcytosis in epithelial cells (GO:0002414)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)		p.Y190*(1)		central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(2)|lung(5)|skin(4)	19		Breast(137;0.0199)		BRCA - Breast invasive adenocarcinoma(366;0.115)		CTTCCCAGTACGGGCACGAAA	0.632																																						uc002iem.2																			1	Substitution - Nonsense(1)		lung(1)		0						c.(568-570)TAC>TAA		CD300 molecule-like family member g precursor							95.0	78.0	84.0					17																	41931263		2203	4300	6503	SO:0001587	stop_gained	146894					apical plasma membrane|basolateral plasma membrane|integral to membrane|multivesicular body membrane	receptor activity	g.chr17:41931263C>A	BC025395	CCDS11470.1, CCDS54131.1, CCDS54132.1, CCDS54133.1	17q21.31	2013-01-11	2006-03-29					"""Immunoglobulin superfamily / V-set domain containing"""	30455	protein-coding gene	gene with protein product	"""nepmucin"""	610520	"""CD300 antigen like family member G"""			16876123, 16754720	Standard	NM_001168322		Approved	Trem4, CLM9	uc002iem.3	Q6UXG3		ENST00000317310.4:c.570C>A	17.37:g.41931263C>A	ENSP00000321005:p.Tyr190*					CD300LG_uc002iel.1_Intron|CD300LG_uc010czk.2_Nonsense_Mutation_p.Y190*|CD300LG_uc010wil.1_Nonsense_Mutation_p.Y156*|CD300LG_uc010czl.2_Intron	p.Y190*	NM_145273	NP_660316	Q6UXG3	CLM9_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.115)	4	611	+		Breast(137;0.0199)	190			Extracellular (Potential).		B4DNY5|F5H7P9|F8W9M3|Q8IX38|Q8IX39|Q8TA95	Nonsense_Mutation	SNP	ENST00000317310.4	37	c.570C>A	CCDS11470.1	.	.	.	.	.	.	.	.	.	.	C	12.35	1.910712	0.33721	.	.	ENSG00000161649	ENST00000317310;ENST00000539718;ENST00000377203	.	.	.	3.39	-2.85	0.05734	.	2.629100	0.01488	N	0.016940	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	4.355	0.11174	0.0:0.3397:0.1754:0.4848	.	.	.	.	X	190;190;156	.	ENSP00000321005:Y190X	Y	+	3	2	CD300LG	39286789	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	-0.667000	0.05274	-0.512000	0.06505	-0.367000	0.07326	TAC		PASS	0.632	CD300LG-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000457646.1	NM_145273		23	89	23	89	---	---	---	---
SLC4A1	6521	broad.mit.edu	37	17	42328875	42328875	+	Missense_Mutation	SNP	G	G	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr17:42328875G>A	ENST00000262418.6	-	18	2548	c.2393C>T	c.(2392-2394)aCg>aTg	p.T798M	AC003102.1_ENST00000399246.2_5'Flank	NM_000342.3	NP_000333.1	P02730	B3AT_HUMAN	solute carrier family 4 (anion exchanger), member 1 (Diego blood group)	798	Membrane (anion exchange).				anion transport (GO:0006820)|bicarbonate transport (GO:0015701)|cellular ion homeostasis (GO:0006873)|chloride transport (GO:0006821)|ion transport (GO:0006811)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|blood microparticle (GO:0072562)|cortical cytoskeleton (GO:0030863)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|Z disc (GO:0030018)	anion transmembrane transporter activity (GO:0008509)|anion:anion antiporter activity (GO:0015301)|ankyrin binding (GO:0030506)|bicarbonate transmembrane transporter activity (GO:0015106)|chloride transmembrane transporter activity (GO:0015108)|inorganic anion exchanger activity (GO:0005452)|protein anchor (GO:0043495)|protein homodimerization activity (GO:0042803)	p.T798M(2)		central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(16)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	40		Breast(137;0.014)|Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.115)		GCTGAGCGACGTGACCCCCAT	0.597																																						uc002igf.3																			2	Substitution - Missense(2)		lung(1)|kidney(1)	ovary(1)|central_nervous_system(1)|skin(1)	3						c.(2392-2394)ACG>ATG		solute carrier family 4, anion exchanger, member							120.0	107.0	112.0					17																	42328875		2203	4300	6503	SO:0001583	missense	6521				bicarbonate transport|cellular ion homeostasis	basolateral plasma membrane|cortical cytoskeleton|integral to plasma membrane|Z disc	ankyrin binding|chloride transmembrane transporter activity|inorganic anion exchanger activity|protein anchor|protein homodimerization activity	g.chr17:42328875G>A		CCDS11481.1	17q21.31	2014-07-19	2014-01-02		ENSG00000004939	ENSG00000004939		"""CD molecules"", ""Blood group antigens"", ""Solute carriers"""	11027	protein-coding gene	gene with protein product	"""Froese blood group"", ""Swann blood group"", ""Wright blood group"""	109270	"""Waldner blood group"", ""erythrocyte membrane protein band 3"", ""Diego blood group"", ""solute carrier family 4, anion exchanger, member 1 (erythrocyte membrane protein band 3, Diego blood group)"", ""solute carrier family 4 (anion exchanger), member 1"""	EPB3, AE1, DI, WD		8434259	Standard	NM_000342		Approved	RTA1A, CD233, FR, SW, WR	uc002igf.4	P02730	OTTHUMG00000156843	ENST00000262418.6:c.2393C>T	17.37:g.42328875G>A	ENSP00000262418:p.Thr798Met						p.T798M	NM_000342	NP_000333	P02730	B3AT_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.115)	18	2542	-		Breast(137;0.014)|Prostate(33;0.0181)	798			Helical; (Potential).|Membrane (anion exchange).		G4V2I6|P78487|Q1ZZ45|Q4KKW9|Q4VB84|Q9UCY7|Q9UDJ1	Missense_Mutation	SNP	ENST00000262418.6	37	c.2393C>T	CCDS11481.1	.	.	.	.	.	.	.	.	.	.	G	24.2	4.506118	0.85282	.	.	ENSG00000004939	ENST00000262418	T	0.80824	-1.42	5.22	5.22	0.72569	Bicarbonate transporter, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.84419	0.5468	M	0.67517	2.055	0.80722	D	1	P	0.52692	0.955	P	0.49451	0.611	D	0.85900	0.1434	10	0.56958	D	0.05	.	18.7637	0.91864	0.0:0.0:1.0:0.0	.	798	P02730	B3AT_HUMAN	M	798	ENSP00000262418:T798M	ENSP00000262418:T798M	T	-	2	0	SLC4A1	39684401	1.000000	0.71417	0.961000	0.40146	0.880000	0.50808	7.786000	0.85741	2.579000	0.87056	0.561000	0.74099	ACG		PASS	0.597	SLC4A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346194.1	NM_000342		20	74	20	74	---	---	---	---
ITGB3	3690	broad.mit.edu	37	17	45369703	45369703	+	Missense_Mutation	SNP	C	C	T	rs369140365		TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr17:45369703C>T	ENST00000559488.1	+	10	1475	c.1459C>T	c.(1459-1461)Cgt>Tgt	p.R487C	ITGB3_ENST00000560629.1_Missense_Mutation_p.P475L|ITGB3_ENST00000435993.2_Missense_Mutation_p.R440C	NM_000212.2	NP_000203.2	P05106	ITB3_HUMAN	integrin, beta 3 (platelet glycoprotein IIIa, antigen CD61)	487	Cysteine-rich tandem repeats.				activation of protein kinase activity (GO:0032147)|angiogenesis involved in wound healing (GO:0060055)|apolipoprotein A-I-mediated signaling pathway (GO:0038027)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell growth (GO:0016049)|cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|cell-substrate adhesion (GO:0031589)|cell-substrate junction assembly (GO:0007044)|extracellular matrix organization (GO:0030198)|heterotypic cell-cell adhesion (GO:0034113)|integrin-mediated signaling pathway (GO:0007229)|leukocyte migration (GO:0050900)|mesodermal cell differentiation (GO:0048333)|negative chemotaxis (GO:0050919)|negative regulation of lipid storage (GO:0010888)|negative regulation of lipid transport (GO:0032369)|negative regulation of lipoprotein metabolic process (GO:0050748)|negative regulation of low-density lipoprotein particle receptor biosynthetic process (GO:0045715)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|protein folding (GO:0006457)|regulation of bone resorption (GO:0045124)|smooth muscle cell migration (GO:0014909)|substrate adhesion-dependent cell spreading (GO:0034446)|tube development (GO:0035295)|viral entry into host cell (GO:0046718)|wound healing (GO:0042060)	alphav-beta3 integrin-vitronectin complex (GO:0071062)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|filopodium membrane (GO:0031527)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|integrin alphav-beta3 complex (GO:0034683)|integrin complex (GO:0008305)|lamellipodium membrane (GO:0031258)|melanosome (GO:0042470)|microvillus membrane (GO:0031528)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|platelet alpha granule membrane (GO:0031092)|receptor complex (GO:0043235)|ruffle membrane (GO:0032587)	cell adhesion molecule binding (GO:0050839)|extracellular matrix binding (GO:0050840)|fibronectin binding (GO:0001968)|identical protein binding (GO:0042802)|platelet-derived growth factor receptor binding (GO:0005161)|protease binding (GO:0002020)|protein disulfide isomerase activity (GO:0003756)|receptor activity (GO:0004872)|vascular endothelial growth factor receptor 2 binding (GO:0043184)	p.R440C(1)|p.R487C(1)		breast(3)|central_nervous_system(5)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(9)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	39					Abciximab(DB00054)|Antithymocyte globulin(DB00098)|Eptifibatide(DB00063)|Tirofiban(DB00775)	TGGGGTATGCCGTTGTGGGCC	0.602																																						uc002ilj.2																			2	Substitution - Missense(2)		lung(2)	central_nervous_system(5)|large_intestine(1)	6						c.(1459-1461)CGT>TGT		integrin beta chain, beta 3 precursor	Abciximab(DB00054)|Tirofiban(DB00775)						116.0	95.0	102.0					17																	45369703		2203	4300	6503	SO:0001583	missense	3690				activation of protein kinase activity|angiogenesis involved in wound healing|axon guidance|cell-matrix adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte migration|negative regulation of lipid storage|negative regulation of lipid transport|negative regulation of lipoprotein metabolic process|negative regulation of low-density lipoprotein particle receptor biosynthetic process|negative regulation of macrophage derived foam cell differentiation|platelet activation|platelet degranulation|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of vascular endothelial growth factor receptor signaling pathway|regulation of bone resorption|smooth muscle cell migration|tube development	alphav-beta3 integrin-vitronectin complex|integrin complex|platelet alpha granule membrane	cell adhesion molecule binding|identical protein binding|platelet-derived growth factor receptor binding|receptor activity|vascular endothelial growth factor receptor 2 binding	g.chr17:45369703C>T		CCDS11511.1	17q21.32	2014-09-17			ENSG00000259207	ENSG00000259207		"""CD molecules"", ""Integrins"""	6156	protein-coding gene	gene with protein product	"""platelet glycoprotein IIIa"""	173470		GP3A		2454952	Standard	NM_000212		Approved	CD61, GPIIIa	uc002ilj.3	P05106	OTTHUMG00000171956	ENST00000559488.1:c.1459C>T	17.37:g.45369703C>T	ENSP00000452786:p.Arg487Cys					ITGB3_uc010wkr.1_RNA	p.R487C	NM_000212	NP_000203	P05106	ITB3_HUMAN			10	1479	+			487			I.|Extracellular (Potential).|Cysteine-rich tandem repeats.		A0PJW2|D3DXJ8|O15495|Q12806|Q13413|Q14648|Q16499	Missense_Mutation	SNP	ENST00000559488.1	37	c.1459C>T	CCDS11511.1	.	.	.	.	.	.	.	.	.	.	C	17.12	3.307758	0.60305	.	.	ENSG00000178852	ENST00000262017;ENST00000435993	D	0.90444	-2.67	5.23	5.23	0.72850	.	0.300125	0.38492	N	0.001664	D	0.86096	0.5851	L	0.56280	1.765	0.80722	D	1	P	0.51351	0.944	B	0.30029	0.11	D	0.88718	0.3227	10	0.62326	D	0.03	.	17.5466	0.87864	0.0:1.0:0.0:0.0	.	487	P05106	ITB3_HUMAN	C	487;440	ENSP00000407801:R440C	ENSP00000262017:R487C	R	+	1	0	C17orf57	42724702	0.997000	0.39634	1.000000	0.80357	0.900000	0.52787	1.947000	0.40293	2.448000	0.82819	0.462000	0.41574	CGT		PASS	0.602	ITGB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416111.3	NM_000212		31	77	31	77	---	---	---	---
PHB	5245	broad.mit.edu	37	17	47484217	47484217	+	Splice_Site	SNP	C	C	G			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr17:47484217C>G	ENST00000300408.3	-	6	583		c.e6-1		PHB_ENST00000508009.1_Splice_Site|RP11-1079K10.4_ENST00000506504.3_RNA|RP11-81K2.1_ENST00000576461.1_Intron|PHB_ENST00000511832.1_Intron	NM_001281496.1|NM_001281715.1|NM_002634.2	NP_001268425.1|NP_001268644.1|NP_002625.1	P35232	PHB_HUMAN	prohibitin						cellular response to interleukin-6 (GO:0071354)|DNA replication (GO:0006260)|histone deacetylation (GO:0016575)|negative regulation of androgen receptor signaling pathway (GO:0060766)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of glucocorticoid receptor signaling pathway (GO:2000323)|negative regulation of transcription by competitive promoter binding (GO:0010944)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|osteoblast differentiation (GO:0001649)|positive regulation of transcription, DNA-templated (GO:0045893)|progesterone receptor signaling pathway (GO:0050847)|regulation of apoptotic process (GO:0042981)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	enzyme binding (GO:0019899)|histone deacetylase binding (GO:0042826)|transcription regulatory region DNA binding (GO:0044212)	p.?(1)		endometrium(4)|large_intestine(2)|lung(4)	10	all_cancers(4;2.62e-14)|Breast(4;4.21e-29)|all_epithelial(4;6.9e-18)		Epithelial(5;8.1e-06)|all cancers(6;7.71e-05)			TCAGATGTGTCTAAGGGGAGA	0.562																																						uc002iox.1																			1	Unknown(1)		lung(1)		0						c.e6-1		prohibitin							62.0	57.0	59.0					17																	47484217		2203	4300	6503	SO:0001630	splice_region_variant	5245				cellular response to interleukin-6|DNA replication|glucocorticoid receptor signaling pathway|histone deacetylation|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of transcription by competitive promoter binding|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|progesterone receptor signaling pathway|regulation of apoptosis	integral to plasma membrane|mitochondrial inner membrane|nucleoplasm	histone deacetylase binding|transcription regulatory region DNA binding	g.chr17:47484217C>G		CCDS11548.1, CCDS62244.1	17q21	2010-11-25			ENSG00000167085	ENSG00000167085			8912	protein-coding gene	gene with protein product		176705				10376528, 8244394	Standard	NM_001281496		Approved	PHB1	uc002iox.1	P35232	OTTHUMG00000134271	ENST00000300408.3:c.511-1G>C	17.37:g.47484217C>G							p.T171_splice	NM_002634	NP_002625	P35232	PHB_HUMAN	Epithelial(5;8.1e-06)|all cancers(6;7.71e-05)		6	584	-	all_cancers(4;2.62e-14)|Breast(4;4.21e-29)|all_epithelial(4;6.9e-18)							B4DY47|Q4VBQ0	Splice_Site	SNP	ENST00000300408.3	37	c.511_splice	CCDS11548.1	.	.	.	.	.	.	.	.	.	.	C	20.7	4.039832	0.75732	.	.	ENSG00000167085	ENST00000300408;ENST00000419140;ENST00000504124;ENST00000512041;ENST00000446735	.	.	.	5.39	5.39	0.77823	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.9281	0.88989	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	PHB	44839216	1.000000	0.71417	0.995000	0.50966	0.909000	0.53808	7.732000	0.84908	2.523000	0.85059	0.655000	0.94253	.		PASS	0.562	PHB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258826.1	NM_002634	Intron	15	31	15	31	---	---	---	---
EPX	8288	broad.mit.edu	37	17	56276470	56276470	+	Missense_Mutation	SNP	G	G	T	rs201075574		TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr17:56276470G>T	ENST00000225371.5	+	8	1300	c.1190G>T	c.(1189-1191)cGg>cTg	p.R397L		NM_000502.4	NP_000493.1	P11678	PERE_HUMAN	eosinophil peroxidase	397					defense response to nematode (GO:0002215)|eosinophil migration (GO:0072677)|hydrogen peroxide catabolic process (GO:0042744)|negative regulation of interleukin-10 production (GO:0032693)|negative regulation of interleukin-5 production (GO:0032714)|positive regulation of interleukin-4 production (GO:0032753)	extracellular vesicular exosome (GO:0070062)	heme binding (GO:0020037)|metal ion binding (GO:0046872)|peroxidase activity (GO:0004601)	p.R397L(1)		breast(2)|endometrium(9)|kidney(1)|large_intestine(9)|liver(2)|lung(20)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	48					Melatonin(DB01065)	GAGCACAACCGGCTGGCCACC	0.562													G|||	1	0.000199681	0.0	0.0014	5008	,	,		16858	0.0		0.0	False		,,,				2504	0.0					uc002ivq.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(1189-1191)CGG>CTG		eosinophil peroxidase preproprotein							67.0	58.0	61.0					17																	56276470		2203	4300	6503	SO:0001583	missense	8288				hydrogen peroxide catabolic process		heme binding|peroxidase activity|protein binding	g.chr17:56276470G>T	M26515	CCDS11602.1	17q23.1	2006-09-25				ENSG00000121053	1.11.1.7		3423	protein-coding gene	gene with protein product		131399				2550461, 2541222	Standard	NM_000502		Approved	EPO, EPP, EPX-PEN	uc002ivq.3	P11678		ENST00000225371.5:c.1190G>T	17.37:g.56276470G>T	ENSP00000225371:p.Arg397Leu						p.R397L	NM_000502	NP_000493	P11678	PERE_HUMAN			8	1276	+			397					Q4TVP3	Missense_Mutation	SNP	ENST00000225371.5	37	c.1190G>T	CCDS11602.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	G	35	5.549886	0.96501	.	.	ENSG00000121053	ENST00000225371	T	0.76186	-1.0	5.55	5.55	0.83447	.	0.106358	0.64402	D	0.000004	D	0.87939	0.6304	M	0.91510	3.215	0.80722	D	1	D	0.65815	0.995	D	0.63957	0.92	D	0.90267	0.4305	10	0.87932	D	0	-30.3881	15.0003	0.71466	0.0:0.0:1.0:0.0	.	397	P11678	PERE_HUMAN	L	397	ENSP00000225371:R397L	ENSP00000225371:R397L	R	+	2	0	EPX	53631469	1.000000	0.71417	0.999000	0.59377	0.952000	0.60782	9.458000	0.97634	2.627000	0.88993	0.655000	0.94253	CGG		PASS	0.562	EPX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443367.1	NM_000502		16	45	16	45	---	---	---	---
TRIM37	4591	broad.mit.edu	37	17	57094780	57094780	+	Missense_Mutation	SNP	T	T	C			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr17:57094780T>C	ENST00000262294.7	-	20	2522	c.2263A>G	c.(2263-2265)Aat>Gat	p.N755D	TRIM37_ENST00000393066.3_Missense_Mutation_p.N755D|TRIM37_ENST00000393065.2_Missense_Mutation_p.N721D|TRIM37_ENST00000376149.3_Missense_Mutation_p.N633D	NM_015294.3	NP_056109.1	O94972	TRI37_HUMAN	tripartite motif containing 37	755					aggresome assembly (GO:0070842)|negative regulation of centriole replication (GO:0046600)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|protein autoubiquitination (GO:0051865)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|peroxisome (GO:0005777)	chromatin binding (GO:0003682)|ligase activity (GO:0016874)|protein homodimerization activity (GO:0042803)|tumor necrosis factor receptor binding (GO:0005164)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.N755D(1)		breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(13)|ovary(1)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37	Medulloblastoma(34;0.0922)|all_neural(34;0.101)					CTCTTCTTATTTGTGGCTGCA	0.423									Mulibrey Nanism																													uc002iwy.3																			1	Substitution - Missense(1)		lung(1)	lung(2)|pancreas(2)|ovary(1)|skin(1)|breast(1)	7						c.(2263-2265)AAT>GAT		tripartite motif-containing 37 protein							129.0	105.0	113.0					17																	57094780		2203	4300	6503	SO:0001583	missense	4591	Mulibrey_Nanism	Familial Cancer Database	Perheentupa syndrome		perinuclear region of cytoplasm|peroxisome	ligase activity|protein binding|zinc ion binding	g.chr17:57094780T>C	AB020705	CCDS32694.1, CCDS45746.1	17q	2014-02-17	2011-01-25	2001-11-30		ENSG00000108395		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	7523	protein-coding gene	gene with protein product	"""RING-B-box-coiled-coil protein"""	605073	"""tripartite motif-containing 37"""	MUL		9106536, 10888877	Standard	NM_015294		Approved	KIAA0898, POB1, TEF3	uc002iwy.4	O94972		ENST00000262294.7:c.2263A>G	17.37:g.57094780T>C	ENSP00000262294:p.Asn755Asp					TRIM37_uc002iwz.3_Missense_Mutation_p.N755D|TRIM37_uc002ixa.3_Missense_Mutation_p.N633D|TRIM37_uc010woc.1_Missense_Mutation_p.N721D	p.N755D	NM_001005207	NP_001005207	O94972	TRI37_HUMAN			20	2707	-	Medulloblastoma(34;0.0922)|all_neural(34;0.101)		755					Q7Z3E6|Q8IYF7|Q8WYF7	Missense_Mutation	SNP	ENST00000262294.7	37	c.2263A>G	CCDS32694.1	.	.	.	.	.	.	.	.	.	.	T	15.93	2.978095	0.53720	.	.	ENSG00000108395	ENST00000393066;ENST00000262294;ENST00000376149;ENST00000393065	T;T;T;T	0.29142	1.58;1.58;1.58;1.58	5.93	3.68	0.42216	.	0.412640	0.27289	N	0.020049	T	0.18257	0.0438	N	0.19112	0.55	0.26901	N	0.967116	B;B;B	0.30281	0.275;0.275;0.039	B;B;B	0.25291	0.037;0.059;0.027	T	0.12319	-1.0552	10	0.59425	D	0.04	-4.7912	8.7769	0.34767	0.0:0.066:0.1286:0.8053	.	721;633;755	F8WEE6;O94972-2;O94972	.;.;TRI37_HUMAN	D	755;755;633;721	ENSP00000376785:N755D;ENSP00000262294:N755D;ENSP00000365319:N633D;ENSP00000376784:N721D	ENSP00000262294:N755D	N	-	1	0	TRIM37	54449562	1.000000	0.71417	0.998000	0.56505	0.964000	0.63967	2.706000	0.47135	0.473000	0.27368	-0.388000	0.06559	AAT		PASS	0.423	TRIM37-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445930.1	NM_015294		24	77	24	77	---	---	---	---
APPBP2	10513	broad.mit.edu	37	17	58556611	58556611	+	Missense_Mutation	SNP	C	C	G			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr17:58556611C>G	ENST00000083182.3	-	4	688	c.401G>C	c.(400-402)gGc>gCc	p.G134A		NM_001282476.1|NM_006380.2	NP_001269405.1|NP_006371.2	Q92624	APBP2_HUMAN	amyloid beta precursor protein (cytoplasmic tail) binding protein 2	134					intracellular protein transport (GO:0006886)|intracellular transport (GO:0046907)|metabolic process (GO:0008152)	cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|nucleus (GO:0005634)	microtubule motor activity (GO:0003777)	p.G134A(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(17)|pancreas(1)|urinary_tract(1)	25	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;3.67e-13)|all cancers(12;1.44e-11)|Colorectal(3;0.01)			ACTGTACCAGCCTGCATCTGA	0.383																																						uc002iys.1																			1	Substitution - Missense(1)		lung(1)		0						c.(400-402)GGC>GCC		amyloid beta precursor protein-binding protein							76.0	66.0	69.0					17																	58556611		2203	4300	6503	SO:0001583	missense	10513				intracellular protein transport	cytoplasmic vesicle membrane|microtubule|microtubule associated complex|nucleus	microtubule motor activity|protein binding	g.chr17:58556611C>G	AF017782	CCDS32699.1	17q23.2	2012-09-20	2001-11-28		ENSG00000062725	ENSG00000062725			622	protein-coding gene	gene with protein product	"""protein interacting with APP tail 1"""	605324	"""amyloid beta precursor protein (cytoplasmic tail)-binding protein 2"""			9843960	Standard	NM_006380		Approved	KIAA0228, Hs.84084, PAT1	uc002iys.1	Q92624		ENST00000083182.3:c.401G>C	17.37:g.58556611C>G	ENSP00000083182:p.Gly134Ala					APPBP2_uc010ddl.1_Missense_Mutation_p.G63A	p.G134A	NM_006380	NP_006371	Q92624	APBP2_HUMAN	Epithelial(12;3.67e-13)|all cancers(12;1.44e-11)|Colorectal(3;0.01)		4	689	-	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		134			TPR 2.		A8K862|O95095|Q8WVC9	Missense_Mutation	SNP	ENST00000083182.3	37	c.401G>C	CCDS32699.1	.	.	.	.	.	.	.	.	.	.	C	24.1	4.489548	0.84962	.	.	ENSG00000062725	ENST00000083182	D	0.81996	-1.56	5.3	5.3	0.74995	Tetratricopeptide-like helical (1);	0.000000	0.85682	D	0.000000	D	0.87744	0.6254	L	0.41824	1.3	0.80722	D	1	D	0.58970	0.984	D	0.67548	0.952	D	0.87759	0.2597	10	0.52906	T	0.07	-6.0077	19.3154	0.94211	0.0:1.0:0.0:0.0	.	134	Q92624	APBP2_HUMAN	A	134	ENSP00000083182:G134A	ENSP00000083182:G134A	G	-	2	0	APPBP2	55911393	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.410000	0.80065	2.628000	0.89032	0.655000	0.94253	GGC		PASS	0.383	APPBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449465.1	NM_006380		18	47	18	47	---	---	---	---
PPM1D	8493	broad.mit.edu	37	17	58711239	58711239	+	Missense_Mutation	SNP	C	C	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr17:58711239C>T	ENST00000305921.3	+	3	959	c.727C>T	c.(727-729)Cgt>Tgt	p.R243C		NM_003620.3	NP_003611.1	O15297	PPM1D_HUMAN	protein phosphatase, Mg2+/Mn2+ dependent, 1D	243	PP2C-like.				G2/M transition of mitotic cell cycle (GO:0000086)|negative regulation of cell proliferation (GO:0008285)|peptidyl-threonine dephosphorylation (GO:0035970)|protein dephosphorylation (GO:0006470)|response to bacterium (GO:0009617)|response to radiation (GO:0009314)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|protein serine/threonine phosphatase activity (GO:0004722)	p.R243C(1)		haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	15	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;6.75e-12)|all cancers(12;1.96e-10)			TGGGGTGAATCGTGTAGTTTG	0.368																																						uc002iyt.1																			1	Substitution - Missense(1)		lung(1)	upper_aerodigestive_tract(1)	1						c.(727-729)CGT>TGT		protein phosphatase 1D							90.0	77.0	82.0					17																	58711239		2203	4300	6503	SO:0001583	missense	8493				negative regulation of cell proliferation|protein dephosphorylation|response to radiation	nucleus|protein serine/threonine phosphatase complex	metal ion binding|protein binding|protein serine/threonine phosphatase activity	g.chr17:58711239C>T	U78305	CCDS11625.1	17q23.3	2014-09-17	2010-03-05		ENSG00000170836	ENSG00000170836		"""Serine/threonine phosphatases / Protein phosphatases, Mg2+/Mn2+ dependent"""	9277	protein-coding gene	gene with protein product	"""wild-type p53-induced phosphatase 1"", ""protein phosphatase 2C, delta isoform"""	605100	"""protein phosphatase 1D magnesium-dependent, delta isoform"""			9177166	Standard	NM_003620		Approved	Wip1, PP2C-DELTA	uc002iyt.2	O15297		ENST00000305921.3:c.727C>T	17.37:g.58711239C>T	ENSP00000306682:p.Arg243Cys					PPM1D_uc010ddm.1_RNA	p.R243C	NM_003620	NP_003611	O15297	PPM1D_HUMAN	Epithelial(12;6.75e-12)|all cancers(12;1.96e-10)		3	949	+	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		243			PP2C-like.		Q53XP4|Q6P991|Q8IVR6	Missense_Mutation	SNP	ENST00000305921.3	37	c.727C>T	CCDS11625.1	.	.	.	.	.	.	.	.	.	.	C	21.4	4.144477	0.77888	.	.	ENSG00000170836	ENST00000305921;ENST00000544712;ENST00000392995	T;T	0.34072	1.38;1.38	5.44	5.44	0.79542	Protein phosphatase 2C-like (4);	0.000000	0.85682	D	0.000000	T	0.73628	0.3611	H	0.98256	4.185	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.83251	-0.0053	10	0.87932	D	0	-10.5503	13.8067	0.63236	0.1533:0.8467:0.0:0.0	.	243	O15297	PPM1D_HUMAN	C	243;91;243	ENSP00000306682:R243C;ENSP00000376720:R243C	ENSP00000306682:R243C	R	+	1	0	PPM1D	56066021	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	3.356000	0.52269	2.551000	0.86045	0.650000	0.86243	CGT		PASS	0.368	PPM1D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449474.1	NM_003620		14	52	14	52	---	---	---	---
EFCAB3	146779	broad.mit.edu	37	17	60483852	60483852	+	Missense_Mutation	SNP	G	G	A	rs573185315		TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr17:60483852G>A	ENST00000305286.3	+	7	578	c.500G>A	c.(499-501)aGa>aAa	p.R167K	EFCAB3_ENST00000450662.2_Missense_Mutation_p.R219K	NM_173503.3	NP_775774.1	Q8N7B9	EFCB3_HUMAN	EF-hand calcium binding domain 3	167							calcium ion binding (GO:0005509)	p.R167K(1)		cervix(1)|endometrium(2)|large_intestine(5)|lung(6)|skin(3)	17			BRCA - Breast invasive adenocarcinoma(2;2.27e-11)			TATTTCCAAAGAAAATTCCAG	0.368													G|||	1	0.000199681	0.0008	0.0	5008	,	,		16228	0.0		0.0	False		,,,				2504	0.0					uc002izu.1																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(499-501)AGA>AAA		EF-hand calcium binding domain 3 isoform b							32.0	31.0	31.0					17																	60483852		2203	4300	6503	SO:0001583	missense	146779						calcium ion binding	g.chr17:60483852G>A	AK098684	CCDS11632.1, CCDS45751.1	17q23.3	2013-01-10			ENSG00000172421	ENSG00000172421		"""EF-hand domain containing"""	26379	protein-coding gene	gene with protein product						12477932	Standard	NM_173503		Approved	FLJ25818	uc010wpc.2	Q8N7B9	OTTHUMG00000179175	ENST00000305286.3:c.500G>A	17.37:g.60483852G>A	ENSP00000302649:p.Arg167Lys					EFCAB3_uc010wpc.1_Missense_Mutation_p.R219K	p.R167K	NM_173503	NP_775774	Q8N7B9	EFCB3_HUMAN	BRCA - Breast invasive adenocarcinoma(2;2.27e-11)		7	578	+			167					J3KQM8	Missense_Mutation	SNP	ENST00000305286.3	37	c.500G>A	CCDS11632.1	.	.	.	.	.	.	.	.	.	.	G	4.496	0.092033	0.08632	.	.	ENSG00000172421	ENST00000450662;ENST00000305286;ENST00000520404	T;T;T	0.54279	0.6;0.62;0.58	5.35	3.23	0.37069	.	0.277017	0.31507	N	0.007528	T	0.28632	0.0709	N	0.25144	0.715	0.25671	N	0.98589	B;B	0.14012	0.009;0.002	B;B	0.12837	0.008;0.008	T	0.25047	-1.0143	10	0.02654	T	1	.	5.9631	0.19310	0.2355:0.0:0.7645:0.0	.	167;167	E5RJB7;Q8N7B9	.;EFCB3_HUMAN	K	219;167;167	ENSP00000403932:R219K;ENSP00000302649:R167K;ENSP00000429124:R167K	ENSP00000302649:R167K	R	+	2	0	EFCAB3	57837584	1.000000	0.71417	1.000000	0.80357	0.831000	0.47069	0.769000	0.26604	1.467000	0.48044	0.591000	0.81541	AGA		PASS	0.368	EFCAB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379114.1	NM_173503		13	36	13	36	---	---	---	---
KCNH6	81033	broad.mit.edu	37	17	61611394	61611395	+	Missense_Mutation	DNP	CC	CC	AA			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr17:61611394_61611395CC>AA	ENST00000583023.1	+	5	834_835	c.823_824CC>AA	c.(823-825)CCc>AAc	p.P275N	KCNH6_ENST00000580652.1_Missense_Mutation_p.P275N|KCNH6_ENST00000581784.1_Missense_Mutation_p.P275N|KCNH6_ENST00000456941.2_Missense_Mutation_p.P275N|KCNH6_ENST00000314672.5_Missense_Mutation_p.P275N	NM_030779.2	NP_110406.1	Q9H252	KCNH6_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 6	275					potassium ion transmembrane transport (GO:0071805)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	signal transducer activity (GO:0004871)|voltage-gated potassium channel activity (GO:0005249)	p.P275H(1)|p.P275N(1)|p.P275T(1)		breast(2)|central_nervous_system(2)|endometrium(9)|kidney(4)|large_intestine(6)|lung(20)|ovary(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	54					Doxazosin(DB00590)|Ibutilide(DB00308)|Miconazole(DB01110)|Prazosin(DB00457)|Terazosin(DB01162)	TGTCTTCACGCCCTACTCAGCC	0.624																																						uc002jay.2																			3	Substitution - Missense(3)		lung(3)	skin(1)	1						c.(823-825)CCC>ACC|c.(823-825)CCC>CAC		potassium voltage-gated channel, subfamily H,	Ibutilide(DB00308)																																			SO:0001583	missense	81033				regulation of transcription, DNA-dependent|signal transduction			g.chr17:61611394C>A|g.chr17:61611395C>A	AF311913	CCDS11638.1, CCDS11639.1, CCDS62290.1	17q23.3	2012-07-05				ENSG00000173826		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	18862	protein-coding gene	gene with protein product		608168				16382104	Standard	NM_030779		Approved	Kv11.2, erg2, HERG2	uc002jay.3	Q9H252		Exception_encountered	17.37:g.61611394_61611395delinsAA	ENSP00000463533:p.Pro275Asn					KCNH6_uc002jax.1_Missense_Mutation_p.P275T|KCNH6_uc010wpl.1_Missense_Mutation_p.P152T|KCNH6_uc010wpm.1_Missense_Mutation_p.P275T|KCNH6_uc002jaz.1_Missense_Mutation_p.P275T|KCNH6_uc002jax.1_Missense_Mutation_p.P275H|KCNH6_uc010wpl.1_Missense_Mutation_p.P152H|KCNH6_uc010wpm.1_Missense_Mutation_p.P275H|KCNH6_uc002jaz.1_Missense_Mutation_p.P275H	p.P275T|p.P275H	NM_030779	NP_110406	Q9H252	KCNH6_HUMAN			5	903|904	+			275			Helical; Name=Segment S1; (Potential).		Q9BRD7	Missense_Mutation	SNP	ENST00000583023.1	37	c.823C>A|c.824C>A	CCDS11638.1																																																																																				PASS	0.624	KCNH6-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443853.1	NM_030779		40	100|98	40	98	---	---	---	---
CSH2	1443	broad.mit.edu	37	17	61950631	61950631	+	Missense_Mutation	SNP	C	C	A	rs570707903		TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr17:61950631C>A	ENST00000392886.2	-	2	230	c.79G>T	c.(79-81)Gtc>Ttc	p.V27F	CSH2_ENST00000336844.5_Missense_Mutation_p.V27F|CSH2_ENST00000560142.1_Intron|CSH2_ENST00000345366.7_Missense_Mutation_p.V27F	NM_020991.3	NP_066271.1	P0DML3	CSH2_HUMAN	chorionic somatomammotropin hormone 2	27						extracellular region (GO:0005576)	metal ion binding (GO:0046872)	p.V27F(2)		endometrium(2)|large_intestine(1)|lung(3)	6						ACGGTTTGGACGGCACCAGCC	0.607																																						uc002jch.2																			2	Substitution - Missense(2)		lung(2)		0						c.(79-81)GTC>TTC		chorionic somatomammotropin hormone 2 isoform 1							84.0	83.0	84.0					17																	61950631		2203	4298	6501	SO:0001583	missense	1443				female pregnancy|signal transduction	extracellular region	hormone activity|metal ion binding	g.chr17:61950631C>A	V00573	CCDS11646.1, CCDS42368.1, CCDS42369.1	17q22-q24	2012-10-02							2441	protein-coding gene	gene with protein product	"""placental lactogen"", ""chorionic somatomammotropin B"""	118820				593368, 6208192	Standard	NM_020991		Approved	hCS-B, CSB, CS-2	uc002jch.3	P0DML3		ENST00000392886.2:c.79G>T	17.37:g.61950631C>A	ENSP00000376623:p.Val27Phe					CSH2_uc002jcg.2_Missense_Mutation_p.V27F|CSH2_uc002jci.2_Missense_Mutation_p.V27F|GH2_uc002jcj.2_Intron|CSH2_uc002jck.2_Missense_Mutation_p.V27F	p.V27F	NM_020991	NP_066271	P01243	CSH_HUMAN			2	194	-			27					P01243|Q0VDB1|Q14407	Missense_Mutation	SNP	ENST00000392886.2	37	c.79G>T	CCDS42369.1	.	.	.	.	.	.	.	.	.	.	c	0	-2.648927	0.00111	.	.	ENSG00000213218	ENST00000345366;ENST00000336844;ENST00000392886	D;D;D	0.89552	-2.53;-2.53;-2.53	4.57	2.32	0.28847	Four-helical cytokine-like, core (1);	0.485866	0.24240	N	0.040271	T	0.63757	0.2538	N	0.01352	-0.895	0.09310	N	1	B;B;B;B	0.19331	0.035;0.0;0.035;0.0	B;B;B;B	0.24848	0.056;0.01;0.056;0.01	T	0.58880	-0.7558	10	0.02654	T	1	.	4.7082	0.12860	0.6968:0.1985:0.1048:0.0	.	27;27;27;27	P01243;A6NIT4;A8K6C2;B1A4H9	CSH_HUMAN;.;.;.	F	27	ENSP00000308396:V27F;ENSP00000338816:V27F;ENSP00000376623:V27F	ENSP00000338816:V27F	V	-	1	0	CSH2	59304363	0.993000	0.37304	0.001000	0.08648	0.000000	0.00434	2.636000	0.46545	0.159000	0.19401	-1.238000	0.01547	GTC		PASS	0.607	CSH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417657.1	NM_020991		24	123	24	123	---	---	---	---
GH2	2689	broad.mit.edu	37	17	61958388	61958388	+	Splice_Site	SNP	C	C	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr17:61958388C>A	ENST00000423893.2	-	3	353		c.e3+1		GH2_ENST00000449787.2_Splice_Site|GH2_ENST00000456543.2_Splice_Site|GH2_ENST00000332800.7_Splice_Site			P01242	SOM2_HUMAN	growth hormone 2						JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)	extracellular region (GO:0005576)	hormone activity (GO:0005179)	p.?(2)		breast(3)|large_intestine(3)|lung(14)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)	24						CATCCACTCACAGATTTCTGC	0.577																																						uc002jco.1																			2	Unknown(2)		lung(2)	upper_aerodigestive_tract(2)|pancreas(1)	3						c.e3+1		growth hormone 2 isoform 1							132.0	138.0	136.0					17																	61958388		2203	4300	6503	SO:0001630	splice_region_variant	2689					extracellular region	hormone activity	g.chr17:61958388C>A	J03756	CCDS11647.1, CCDS11648.1, CCDS45757.1, CCDS45758.1	17q22-q24	2014-01-30						"""Endogenous ligands"""	4262	protein-coding gene	gene with protein product	"""placental-specific growth hormone"", ""placenta-specific growth hormone"""	139240				6306568	Standard	NM_002059		Approved	GH-V, GHV, GHL, hGH-V	uc002jcl.2	P01242		ENST00000423893.2:c.291+1G>T	17.37:g.61958388C>A						GH2_uc002jcj.2_Splice_Site_p.S97_splice|CSH2_uc002jck.2_Intron|GH2_uc002jcl.1_Splice_Site_p.S97_splice|GH2_uc002jcm.1_Splice_Site_p.S97_splice|GH2_uc002jcn.1_Splice_Site_p.S82_splice	p.S97_splice	NM_002059	NP_002050	P01242	SOM2_HUMAN			3	353	-								B1A4H5|B1A4H7|O14643|O14644|P09587	Splice_Site	SNP	ENST00000423893.2	37	c.291_splice	CCDS11647.1	.	.	.	.	.	.	.	.	.	.	C	5.718	0.316895	0.10845	.	.	ENSG00000136487	ENST00000332800;ENST00000456543;ENST00000423893;ENST00000449787	.	.	.	2.91	2.91	0.33838	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.658	0.51330	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	GH2	59312120	0.982000	0.34865	0.271000	0.24616	0.014000	0.08584	2.849000	0.48286	1.637000	0.50538	0.485000	0.47835	.		PASS	0.577	GH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417665.1	NM_002059	Intron	81	250	81	250	---	---	---	---
SCN4A	6329	broad.mit.edu	37	17	62050198	62050199	+	Start_Codon_SNP	DNP	CC	CC	GA			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr17:62050198_62050199CC>GA	ENST00000435607.1	-	1	79_80	c.3_4GG>TC	c.(1-6)atGGcc>atTCcc	p.1_2MA>IP	SCN4A_ENST00000578147.1_Start_Codon_SNP_p.1_2MA>IP|CTC-264K15.6_ENST00000577329.1_lincRNA	NM_000334.4	NP_000325.4	P35499	SCN4A_HUMAN	sodium channel, voltage-gated, type IV, alpha subunit	1					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.M1I(1)|p.M1_A2>IP(1)|p.A2P(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)	GATGGTCTGGCCATCCTCGCAT	0.703																																						uc002jds.1																			3	Substitution - Missense(2)|Complex - compound substitution(1)		lung(3)	ovary(1)|pancreas(1)|skin(1)	3						c.(4-6)GCC>CCC|c.(1-3)ATG>ATT		voltage-gated sodium channel type 4 alpha	Lamotrigine(DB00555)																																			SO:0001582	initiator_codon_variant	6329				muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr17:62050198C>G|g.chr17:62050199C>A	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.3_4delinsGA	17.37:g.62050198_62050199delinsGA	ENSP00000396320:p.M1_A2delinsIP						p.A2P|p.M1I	NM_000334	NP_000325	P35499	SCN4A_HUMAN			1	81|80	-			2|1					Q15478|Q16447|Q7Z6B1	Missense_Mutation	SNP	ENST00000435607.1	37	c.4G>C|c.3G>T	CCDS45761.1																																																																																				PASS	0.703	SCN4A-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_000334	Missense_Mutation	7	16	7	16	---	---	---	---
ABCA8	10351	broad.mit.edu	37	17	66913532	66913532	+	Missense_Mutation	SNP	T	T	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr17:66913532T>A	ENST00000269080.2	-	15	2125	c.1988A>T	c.(1987-1989)aAg>aTg	p.K663M	ABCA8_ENST00000430352.2_Missense_Mutation_p.K703M|ABCA8_ENST00000586539.1_Missense_Mutation_p.K703M	NM_007168.2	NP_009099.1	O94911	ABCA8_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 8	663	ABC transporter 1. {ECO:0000255|PROSITE- ProRule:PRU00434}.				transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)	p.K663M(1)		breast(3)|central_nervous_system(2)|endometrium(9)|kidney(5)|large_intestine(19)|liver(1)|lung(30)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|urinary_tract(4)	83	Breast(10;4.56e-13)					CCATTTCTTCTTTAGAAACAA	0.393																																						uc002jhp.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(1)	3						c.(1987-1989)AAG>ATG		ATP-binding cassette, sub-family A member 8							118.0	126.0	123.0					17																	66913532		2203	4300	6503	SO:0001583	missense	10351					integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr17:66913532T>A	AB020629	CCDS11680.1, CCDS74138.1, CCDS74139.1	17q24	2012-03-14			ENSG00000141338	ENSG00000141338		"""ATP binding cassette transporters / subfamily A"""	38	protein-coding gene	gene with protein product		612505					Standard	XM_005256938		Approved	KIAA0822	uc002jhp.3	O94911		ENST00000269080.2:c.1988A>T	17.37:g.66913532T>A	ENSP00000269080:p.Lys663Met					ABCA8_uc002jhq.2_Missense_Mutation_p.K703M|ABCA8_uc010wqq.1_Missense_Mutation_p.K703M|ABCA8_uc010wqr.1_Missense_Mutation_p.K642M|ABCA8_uc002jhr.2_Missense_Mutation_p.K703M	p.K663M	NM_007168	NP_009099	O94911	ABCA8_HUMAN			15	2167	-	Breast(10;4.56e-13)		663			ABC transporter 1.		A1L3U3|C9JQE6|Q86WW0	Missense_Mutation	SNP	ENST00000269080.2	37	c.1988A>T	CCDS11680.1	.	.	.	.	.	.	.	.	.	.	T	18.83	3.707504	0.68615	.	.	ENSG00000141338	ENST00000269080;ENST00000430352;ENST00000541225	T;T	0.80480	-1.38;-1.38	4.91	4.91	0.64330	ABC transporter-like (1);	0.000000	0.56097	D	0.000038	D	0.89093	0.6617	M	0.76838	2.35	0.58432	D	0.999999	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;1.0	D	0.90516	0.4485	10	0.87932	D	0	.	13.8623	0.63569	0.0:0.0:0.0:1.0	.	642;703;703;703;663	F5H6Z4;A1L3U3;B4DJ11;C9JQE6;O94911	.;.;.;.;ABCA8_HUMAN	M	663;703;642	ENSP00000269080:K663M;ENSP00000402814:K703M	ENSP00000269080:K663M	K	-	2	0	ABCA8	64425127	1.000000	0.71417	0.991000	0.47740	0.586000	0.36452	7.085000	0.76875	2.065000	0.61736	0.448000	0.29417	AAG		PASS	0.393	ABCA8-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000450172.1	NM_007168		55	162	55	162	---	---	---	---
ABCA9	10350	broad.mit.edu	37	17	66982353	66982354	+	Missense_Mutation	DNP	GC	GC	TT			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr17:66982353_66982354GC>TT	ENST00000340001.4	-	32	4370_4371	c.4159_4160GC>AA	c.(4159-4161)GCt>AAt	p.A1387N	ABCA9_ENST00000370732.2_Missense_Mutation_p.A1387N|ABCA9_ENST00000453985.2_Missense_Mutation_p.A1349N|ABCA9_ENST00000482072.1_5'Flank	NM_080283.3	NP_525022.2	Q8IUA7	ABCA9_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 9	1387	ABC transporter 2. {ECO:0000255|PROSITE- ProRule:PRU00434}.				transport (GO:0006810)	integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)	p.A1387T(2)|p.A1387D(1)|p.A1387N(1)		NS(2)|breast(4)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(21)|lung(35)|ovary(4)|prostate(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	91	Breast(10;1.47e-12)					TTTCACGGCAGCGTACACCTCC	0.609																																						uc002jhu.2																			4	Substitution - Missense(4)		lung(3)|breast(1)	ovary(4)|upper_aerodigestive_tract(1)|central_nervous_system(1)	6						c.(4159-4161)GCT>GAT|c.(4159-4161)GCT>ACT		ATP-binding cassette, sub-family A, member 9																																				SO:0001583	missense	10350				transport	integral to membrane	ATP binding|ATPase activity	g.chr17:66982353G>T|g.chr17:66982354C>T	AF423307	CCDS11681.1	17q24	2012-03-14			ENSG00000154258	ENSG00000154258		"""ATP binding cassette transporters / subfamily A"""	39	protein-coding gene	gene with protein product		612507					Standard	XM_005256934		Approved	EST640918	uc002jhu.3	Q8IUA7	OTTHUMG00000140371	ENST00000340001.4:c.4159_4160delinsTT	17.37:g.66982353_66982354delinsTT	ENSP00000342216:p.Ala1387Asn					ABCA9_uc010dez.2_Missense_Mutation_p.A1349D|ABCA9_uc010dez.2_Missense_Mutation_p.A1349T	p.A1387D|p.A1387T	NM_080283	NP_525022	Q8IUA7	ABCA9_HUMAN			32	4303|4302	-	Breast(10;1.47e-12)		1387			ABC transporter 2.		Q6P655|Q8N2S4|Q8WWZ5|Q96MD8	Missense_Mutation	SNP	ENST00000340001.4	37	c.4160C>A|c.4159G>A	CCDS11681.1																																																																																				PASS	0.609	ABCA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000277072.2	NM_172386		43|42	101|97	42	97	---	---	---	---
ABCA9	10350	broad.mit.edu	37	17	67012471	67012471	+	Missense_Mutation	SNP	C	C	G			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr17:67012471C>G	ENST00000340001.4	-	22	3173	c.2962G>C	c.(2962-2964)Gat>Cat	p.D988H	ABCA9_ENST00000370732.2_Missense_Mutation_p.D988H|ABCA9-AS1_ENST00000458677.1_RNA|ABCA9_ENST00000453985.2_Missense_Mutation_p.D988H	NM_080283.3	NP_525022.2	Q8IUA7	ABCA9_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 9	988					transport (GO:0006810)	integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)	p.D988H(1)		NS(2)|breast(4)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(21)|lung(35)|ovary(4)|prostate(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	91	Breast(10;1.47e-12)					CTAATGACATCCAGGAGGACA	0.343																																						uc002jhu.2																			1	Substitution - Missense(1)		lung(1)	ovary(4)|upper_aerodigestive_tract(1)|central_nervous_system(1)	6						c.(2962-2964)GAT>CAT		ATP-binding cassette, sub-family A, member 9							126.0	122.0	124.0					17																	67012471		2203	4300	6503	SO:0001583	missense	10350				transport	integral to membrane	ATP binding|ATPase activity	g.chr17:67012471C>G	AF423307	CCDS11681.1	17q24	2012-03-14			ENSG00000154258	ENSG00000154258		"""ATP binding cassette transporters / subfamily A"""	39	protein-coding gene	gene with protein product		612507					Standard	XM_005256934		Approved	EST640918	uc002jhu.3	Q8IUA7	OTTHUMG00000140371	ENST00000340001.4:c.2962G>C	17.37:g.67012471C>G	ENSP00000342216:p.Asp988His					ABCA9_uc010dez.2_Missense_Mutation_p.D988H	p.D988H	NM_080283	NP_525022	Q8IUA7	ABCA9_HUMAN			22	3105	-	Breast(10;1.47e-12)		988					Q6P655|Q8N2S4|Q8WWZ5|Q96MD8	Missense_Mutation	SNP	ENST00000340001.4	37	c.2962G>C	CCDS11681.1	.	.	.	.	.	.	.	.	.	.	C	17.51	3.407213	0.62399	.	.	ENSG00000154258	ENST00000340001;ENST00000453985;ENST00000370732;ENST00000453749	D;D	0.87412	-2.25;-2.25	5.1	3.09	0.35607	.	0.142484	0.31268	N	0.007955	D	0.90259	0.6954	M	0.71581	2.175	0.34167	D	0.669383	D;D	0.69078	0.997;0.984	D;D	0.67548	0.952;0.928	D	0.91317	0.5079	10	0.66056	D	0.02	.	6.6016	0.22703	0.0:0.7421:0.0:0.2579	.	988;988	Q8IUA7-3;Q8IUA7	.;ABCA9_HUMAN	H	988;971;988;983	ENSP00000342216:D988H;ENSP00000359767:D988H	ENSP00000342216:D988H	D	-	1	0	ABCA9	64524066	1.000000	0.71417	0.999000	0.59377	0.875000	0.50365	2.435000	0.44811	2.387000	0.81309	0.591000	0.81541	GAT		PASS	0.343	ABCA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000277072.2	NM_172386		35	110	35	110	---	---	---	---
KCNJ2	3759	broad.mit.edu	37	17	68171898	68171898	+	Missense_Mutation	SNP	G	G	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr17:68171898G>A	ENST00000243457.3	+	2	1101	c.718G>A	c.(718-720)Ggg>Agg	p.G240R	KCNJ2_ENST00000535240.1_Missense_Mutation_p.G240R	NM_000891.2	NP_000882.1	P63252	KCNJ2_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 2	240					cardiac muscle cell action potential involved in contraction (GO:0086002)|cellular potassium ion homeostasis (GO:0030007)|cellular response to mechanical stimulus (GO:0071260)|magnesium ion transport (GO:0015693)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|membrane repolarization during action potential (GO:0086011)|membrane repolarization during cardiac muscle cell action potential (GO:0086013)|positive regulation of potassium ion transmembrane transport (GO:1901381)|potassium ion import (GO:0010107)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|protein homotetramerization (GO:0051289)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of membrane repolarization (GO:0060306)|regulation of resting membrane potential (GO:0060075)|regulation of skeletal muscle contraction via regulation of action potential (GO:0014861)|relaxation of cardiac muscle (GO:0055119)|relaxation of skeletal muscle (GO:0090076)|synaptic transmission (GO:0007268)	dendritic spine (GO:0043197)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|intrinsic component of membrane (GO:0031224)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|rough endoplasmic reticulum (GO:0005791)|smooth endoplasmic reticulum (GO:0005790)|T-tubule (GO:0030315)|voltage-gated potassium channel complex (GO:0008076)	inward rectifier potassium channel activity (GO:0005242)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|voltage-gated potassium channel activity involved in cardiac muscle cell action potential repolarization (GO:0086008)	p.G240R(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(13)|skin(1)|urinary_tract(1)	25	Breast(10;1.64e-08)					TACTTCTGAAGGGGAGTATAT	0.448																																						uc010dfg.2																			1	Substitution - Missense(1)		lung(1)		0						c.(718-720)GGG>AGG		potassium inwardly-rectifying channel J2							94.0	95.0	94.0					17																	68171898		2203	4300	6503	SO:0001583	missense	3759				synaptic transmission	integral to plasma membrane	inward rectifier potassium channel activity|protein binding	g.chr17:68171898G>A	AF011904	CCDS11688.1	17q24.3	2014-09-17				ENSG00000123700		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Inwardly rectifying"""	6263	protein-coding gene	gene with protein product		600681				7696590, 11240146, 16382105	Standard	NM_000891		Approved	Kir2.1, IRK1, LQT7	uc002jir.3	P63252		ENST00000243457.3:c.718G>A	17.37:g.68171898G>A	ENSP00000243457:p.Gly240Arg					KCNJ2_uc002jir.2_Missense_Mutation_p.G240R	p.G240R	NM_000891	NP_000882	P63252	IRK2_HUMAN			2	1119	+	Breast(10;1.64e-08)		240			Cytoplasmic (By similarity).		O15110|P48049	Missense_Mutation	SNP	ENST00000243457.3	37	c.718G>A	CCDS11688.1	.	.	.	.	.	.	.	.	.	.	G	18.01	3.526677	0.64860	.	.	ENSG00000123700	ENST00000535240;ENST00000243457	D;D	0.97959	-4.63;-4.63	5.86	5.86	0.93980	Immunoglobulin E-set (1);Potassium channel, inwardly rectifying, Kir, conserved region 2 (1);Potassium channel, inwardly rectifying, Kir, cytoplasmic (1);	0.000000	0.85682	D	0.000000	D	0.99146	0.9705	M	0.93507	3.425	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99215	1.0877	9	.	.	.	.	20.2019	0.98263	0.0:0.0:1.0:0.0	.	240	P63252	IRK2_HUMAN	R	240	ENSP00000441848:G240R;ENSP00000243457:G240R	.	G	+	1	0	KCNJ2	65683493	1.000000	0.71417	1.000000	0.80357	0.614000	0.37383	9.813000	0.99286	2.776000	0.95493	0.655000	0.94253	GGG		PASS	0.448	KCNJ2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450889.1	NM_000891		32	79	32	79	---	---	---	---
ACOX1	51	broad.mit.edu	37	17	73949611	73949611	+	Missense_Mutation	SNP	C	C	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr17:73949611C>A	ENST00000301608.4	-	7	925	c.865G>T	c.(865-867)Gct>Tct	p.A289S	ACOX1_ENST00000591857.1_5'Flank|ACOX1_ENST00000537812.1_Missense_Mutation_p.A251S|ACOX1_ENST00000293217.5_Missense_Mutation_p.A289S	NM_007292.5	NP_009223.2	Q15067	ACOX1_HUMAN	acyl-CoA oxidase 1, palmitoyl	289					alpha-linolenic acid metabolic process (GO:0036109)|cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation using acyl-CoA oxidase (GO:0033540)|fatty acid oxidation (GO:0019395)|generation of precursor metabolites and energy (GO:0006091)|lipid homeostasis (GO:0055088)|lipid metabolic process (GO:0006629)|peroxisome fission (GO:0016559)|positive regulation of cholesterol homeostasis (GO:2000189)|prostaglandin metabolic process (GO:0006693)|small molecule metabolic process (GO:0044281)|spermatogenesis (GO:0007283)|unsaturated fatty acid metabolic process (GO:0033559)|very long-chain fatty acid metabolic process (GO:0000038)	membrane (GO:0016020)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	acyl-CoA dehydrogenase activity (GO:0003995)|acyl-CoA oxidase activity (GO:0003997)|FAD binding (GO:0071949)|fatty acid binding (GO:0005504)|flavin adenine dinucleotide binding (GO:0050660)|palmitoyl-CoA oxidase activity (GO:0016401)|PDZ domain binding (GO:0030165)|protein N-terminus binding (GO:0047485)|receptor binding (GO:0005102)	p.A289S(2)		large_intestine(2)|lung(7)|ovary(2)|prostate(2)|skin(1)	14					Flavin adenine dinucleotide(DB03147)	GCCCGAGCAGCTTCTCCCACA	0.537																																						uc002jqf.2																			2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(865-867)GCT>TCT		acyl-Coenzyme A oxidase 1 isoform b							154.0	119.0	131.0					17																	73949611		2203	4300	6503	SO:0001583	missense	51				fatty acid beta-oxidation using acyl-CoA oxidase|generation of precursor metabolites and energy|prostaglandin metabolic process|very long-chain fatty acid metabolic process	peroxisomal matrix	acyl-CoA dehydrogenase activity|acyl-CoA oxidase activity|flavin adenine dinucleotide binding|protein N-terminus binding	g.chr17:73949611C>A	U03254	CCDS11734.1, CCDS11735.1	17q25.1	2012-10-04	2010-04-30		ENSG00000161533	ENSG00000161533	1.3.3.6		119	protein-coding gene	gene with protein product		609751	"""acyl-Coenzyme A oxidase 1, palmitoyl"""			8159712	Standard	NM_007292		Approved	PALMCOX	uc002jqe.3	Q15067	OTTHUMG00000180027	ENST00000301608.4:c.865G>T	17.37:g.73949611C>A	ENSP00000301608:p.Ala289Ser					ACOX1_uc010wsq.1_Missense_Mutation_p.A251S|ACOX1_uc002jqe.2_Missense_Mutation_p.A289S|ACOX1_uc010wsr.1_Missense_Mutation_p.A221S	p.A289S	NM_007292	NP_009223	Q15067	ACOX1_HUMAN			7	1155	-			289					A8K6X8|A8KAA0|B4DK61|F5GYQ8|Q12863|Q15068|Q15101|Q16131|Q7Z3W5|Q9UD31	Missense_Mutation	SNP	ENST00000301608.4	37	c.865G>T	CCDS11735.1	.	.	.	.	.	.	.	.	.	.	C	8.731	0.916757	0.17907	.	.	ENSG00000161533	ENST00000301608;ENST00000293217;ENST00000537812;ENST00000539791;ENST00000538781	T;T;T	0.70749	-0.51;-0.51;-0.51	6.17	4.18	0.49190	Acyl-CoA dehydrogenase/oxidase C-terminal (2);	0.105502	0.64402	N	0.000003	T	0.47857	0.1468	N	0.11064	0.09	0.39392	D	0.966446	B;B;B;B	0.09022	0.002;0.0;0.0;0.0	B;B;B;B	0.17979	0.02;0.015;0.001;0.006	T	0.32613	-0.9900	10	0.16420	T	0.52	-11.9005	9.3255	0.37990	0.3839:0.5494:0.0:0.0668	.	221;251;289;289	F5H0M0;F5GYQ8;Q15067;Q15067-2	.;.;ACOX1_HUMAN;.	S	289;289;251;289;221	ENSP00000301608:A289S;ENSP00000293217:A289S;ENSP00000441257:A251S	ENSP00000293217:A289S	A	-	1	0	ACOX1	71461206	0.998000	0.40836	0.698000	0.30274	0.788000	0.44548	3.369000	0.52365	0.903000	0.36546	0.655000	0.94253	GCT		PASS	0.537	ACOX1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000439503.1			15	66	15	66	---	---	---	---
TMC6	11322	broad.mit.edu	37	17	76121327	76121327	+	Missense_Mutation	SNP	C	C	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr17:76121327C>A	ENST00000590602.1	-	6	607	c.448G>T	c.(448-450)Gtg>Ttg	p.V150L	TMC6_ENST00000591436.1_5'Flank|TMC6_ENST00000589553.1_5'UTR|TMC6_ENST00000322914.3_Missense_Mutation_p.V150L|TMC6_ENST00000392467.3_Missense_Mutation_p.V150L|TMC6_ENST00000592076.1_5'Flank|TMC6_ENST00000306591.7_Missense_Mutation_p.V150L|TMC6_ENST00000322933.4_5'UTR			Q7Z403	TMC6_HUMAN	transmembrane channel-like 6	150					ion transport (GO:0006811)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear membrane (GO:0031965)		p.V150L(1)		NS(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|upper_aerodigestive_tract(1)	14			BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)			AGCTCCTTCACCAGGAGGCTC	0.667																																						uc002juj.1																			1	Substitution - Missense(1)		lung(1)		0						c.(448-450)GTG>TTG		transmembrane channel-like 6							34.0	29.0	31.0					17																	76121327		2197	4294	6491	SO:0001583	missense	11322	Epidermodysplasia_Verruciformis_Familial_Clustering_of				endoplasmic reticulum membrane|integral to membrane		g.chr17:76121327C>A	AY057379	CCDS32748.1	17q25.3	2014-09-17	2005-11-10	2005-11-10	ENSG00000141524	ENSG00000141524			18021	protein-coding gene	gene with protein product		605828	"""epidermodysplasia verruciformis 1"""	EVER1		12426567	Standard	NM_007267		Approved	LAK-4P, EVIN1	uc002juk.2	Q7Z403	OTTHUMG00000177466	ENST00000590602.1:c.448G>T	17.37:g.76121327C>A	ENSP00000465261:p.Val150Leu					TMC6_uc002jui.1_5'Flank|TMC6_uc010dhf.1_5'UTR|TMC6_uc002juk.2_Missense_Mutation_p.V150L|TMC6_uc010dhg.1_Missense_Mutation_p.V150L|TMC6_uc002jul.1_Missense_Mutation_p.V150L|TMC6_uc002jum.3_5'UTR|TMC6_uc002jun.3_Missense_Mutation_p.V150L|TMC6_uc002juo.2_5'UTR|TMC6_uc010wtp.1_5'UTR	p.V150L	NM_007267	NP_009198	Q7Z403	TMC6_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)		5	574	-			150			Lumenal (Potential).		O43284|Q45VJ2|Q8IU98|Q8IUI7|Q8IWU8|Q8TEQ7|Q9HAG5	Missense_Mutation	SNP	ENST00000590602.1	37	c.448G>T	CCDS32748.1	.	.	.	.	.	.	.	.	.	.	c	19.45	3.830547	0.71258	.	.	ENSG00000141524	ENST00000322914;ENST00000392467;ENST00000306591	T;T;T	0.54279	0.58;0.58;0.58	3.37	3.37	0.38596	.	1.124900	0.06727	U	0.775915	T	0.58452	0.2123	M	0.63843	1.955	0.80722	D	1	P;B	0.42827	0.791;0.016	P;B	0.44673	0.457;0.012	T	0.54186	-0.8331	10	0.41790	T	0.15	-18.1005	12.8586	0.57901	0.0:1.0:0.0:0.0	.	150;150	Q7Z403-2;Q7Z403	.;TMC6_HUMAN	L	150	ENSP00000313408:V150L;ENSP00000376260:V150L;ENSP00000306405:V150L	ENSP00000306405:V150L	V	-	1	0	TMC6	73632922	1.000000	0.71417	1.000000	0.80357	0.872000	0.50106	3.303000	0.51858	1.580000	0.49851	0.306000	0.20318	GTG		PASS	0.667	TMC6-007	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437146.1			2	1	2	1	---	---	---	---
C1QTNF1	114897	broad.mit.edu	37	17	77043891	77043891	+	Silent	SNP	G	G	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr17:77043891G>T	ENST00000339142.2	+	5	1122	c.567G>T	c.(565-567)gtG>gtT	p.V189V	C1QTNF1_ENST00000580454.1_Silent_p.V189V|C1QTNF1_ENST00000581774.1_Silent_p.V189V|C1QTNF1_ENST00000578229.1_Silent_p.V107V|C1QTNF1_ENST00000579760.1_Silent_p.V189V|C1QTNF1_ENST00000311661.4_Silent_p.V107V|C1QTNF1_ENST00000392445.2_Silent_p.V189V|C1QTNF1_ENST00000583904.1_Silent_p.V189V|C1QTNF1_ENST00000580474.1_Silent_p.V189V|C1QTNF1_ENST00000354124.3_Silent_p.V199V|C1QTNF1_ENST00000582625.1_3'UTR	NM_198593.3	NP_940995.1	Q9BXJ1	C1QT1_HUMAN	C1q and tumor necrosis factor related protein 1	189	C1q. {ECO:0000255|PROSITE- ProRule:PRU00368}.				negative regulation of platelet activation (GO:0010544)|negative regulation of platelet aggregation (GO:0090331)|positive regulation of aldosterone secretion (GO:2000860)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of gene expression (GO:0010628)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of protein kinase B signaling (GO:0051897)|protein heterotrimerization (GO:0070208)|protein homooligomerization (GO:0051260)|regulation of glucose metabolic process (GO:0010906)	collagen trimer (GO:0005581)|extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)	collagen binding (GO:0005518)	p.V189V(1)|p.V107V(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(5)|ovary(2)	14			BRCA - Breast invasive adenocarcinoma(99;0.0294)|OV - Ovarian serous cystadenocarcinoma(97;0.201)			ACTGCTACGTGCCCGGCCTCT	0.532																																						uc002jwp.2																			2	Substitution - coding silent(2)		lung(2)	ovary(1)	1						c.(565-567)GTG>GTT		C1q and tumor necrosis factor related protein 1							174.0	156.0	162.0					17																	77043891		2203	4300	6503	SO:0001819	synonymous_variant	114897					collagen		g.chr17:77043891G>T	AF329840	CCDS11761.1, CCDS11762.1	17q25	2012-07-02			ENSG00000173918	ENSG00000173918			14324	protein-coding gene	gene with protein product	"""G protein coupled receptor interacting protein"""	610365				12409230	Standard	NM_198593		Approved	CTRP1, ZSIG37, GIP, FLJ90694	uc002jwp.4	Q9BXJ1	OTTHUMG00000177533	ENST00000339142.2:c.567G>T	17.37:g.77043891G>T						C1QTNF1_uc002jwq.2_Silent_p.V107V|C1QTNF1_uc002jwr.3_Silent_p.V199V|C1QTNF1_uc002jws.2_Silent_p.V189V|C1QTNF1_uc002jwt.2_Silent_p.V287V	p.V189V	NM_030968	NP_112230	Q9BXJ1	C1QT1_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0294)|OV - Ovarian serous cystadenocarcinoma(97;0.201)		4	907	+			189			C1q.		Q6ZMH6|Q96NF2|Q9GZR4	Silent	SNP	ENST00000339142.2	37	c.567G>T	CCDS11761.1																																																																																				PASS	0.532	C1QTNF1-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437388.2	NM_030968		32	93	32	93	---	---	---	---
RNF213	57674	broad.mit.edu	37	17	78318559	78318559	+	Missense_Mutation	SNP	G	G	C			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr17:78318559G>C	ENST00000582970.1	+	29	6567	c.6424G>C	c.(6424-6426)Gag>Cag	p.E2142Q	RNF213_ENST00000336301.6_Missense_Mutation_p.E215Q|RNF213_ENST00000508628.2_Missense_Mutation_p.E2191Q	NM_001256071.1	NP_001243000.1	Q63HN8	RN213_HUMAN	ring finger protein 213	2142					ATP catabolic process (GO:0006200)|protein autoubiquitination (GO:0051865)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|membrane (GO:0016020)	ATPase activity (GO:0016887)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.E2191Q(1)|p.E215Q(1)		NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)			GATAGACATGGAGCTGAGTGC	0.488																																						uc002jyh.1																			2	Substitution - Missense(2)		lung(2)	ovary(8)|lung(6)|breast(3)|large_intestine(2)|central_nervous_system(1)|pancreas(1)	21						c.(643-645)GAG>CAG		ring finger protein 213							127.0	121.0	124.0					17																	78318559		2203	4300	6503	SO:0001583	missense	57674							g.chr17:78318559G>C	AK074030	CCDS58606.1	17q25.3	2013-01-09	2007-02-08	2007-02-08		ENSG00000173821		"""RING-type (C3HC4) zinc fingers"""	14539	protein-coding gene	gene with protein product		613768	"""chromosome 17 open reading frame 27"", ""KIAA1618"", ""moyamoya disease 2"", ""Moyamoya disease 2"""	C17orf27, KIAA1618, MYMY2		10997877, 21048783, 21799892	Standard	NM_020954		Approved	KIAA1554, NET57	uc021uen.2	Q63HN8		ENST00000582970.1:c.6424G>C	17.37:g.78318559G>C	ENSP00000464087:p.Glu2142Gln						p.E215Q	NM_020914	NP_065965	Q9HCF4	ALO17_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)		4	866	+	all_neural(118;0.0538)		Error:Variant_position_missing_in_Q9HCF4_after_alignment					C9JCP4|D6RI12|F8WKS1|Q658P6|Q69YK7|Q6MZR1|Q8IWF4|Q8IZX1|Q8IZX2|Q8N406|Q8TEU0|Q9H6C9|Q9H6H9|Q9H6P3|Q9H8A9|Q9HCF4|Q9HCL8	Missense_Mutation	SNP	ENST00000582970.1	37	c.643G>C	CCDS58606.1	.	.	.	.	.	.	.	.	.	.	G	8.956	0.969487	0.18659	.	.	ENSG00000173821	ENST00000508628;ENST00000411702;ENST00000336301	T	0.24723	1.84	5.57	3.43	0.39272	.	0.225700	0.36268	N	0.002686	T	0.37320	0.0999	M	0.69823	2.125	0.25282	N	0.989425	D	0.62365	0.991	P	0.53689	0.732	T	0.16276	-1.0408	10	0.51188	T	0.08	.	9.101	0.36669	0.146:0.1345:0.7196:0.0	.	215	Q63HN8	RN213_HUMAN	Q	2142;2191;215	ENSP00000338218:E215Q	ENSP00000338218:E215Q	E	+	1	0	RNF213	75933154	1.000000	0.71417	0.967000	0.41034	0.316000	0.28119	5.615000	0.67702	1.348000	0.45733	0.655000	0.94253	GAG		PASS	0.488	RNF213-020	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000443298.1	NM_020914		64	135	64	135	---	---	---	---
RNF213	57674	broad.mit.edu	37	17	78321522	78321522	+	Silent	SNP	G	G	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr17:78321522G>A	ENST00000582970.1	+	29	9530	c.9387G>A	c.(9385-9387)gtG>gtA	p.V3129V	RNF213_ENST00000336301.6_Silent_p.V1202V|RNF213_ENST00000508628.2_Silent_p.V3178V	NM_001256071.1	NP_001243000.1	Q63HN8	RN213_HUMAN	ring finger protein 213	3129					ATP catabolic process (GO:0006200)|protein autoubiquitination (GO:0051865)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|membrane (GO:0016020)	ATPase activity (GO:0016887)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.V1202V(1)|p.V3178V(1)		NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)			AGAAGTACGTGGACCTCGGTC	0.552																																						uc002jyh.1																			2	Substitution - coding silent(2)		lung(2)	ovary(8)|lung(6)|breast(3)|large_intestine(2)|central_nervous_system(1)|pancreas(1)	21						c.(3604-3606)GTG>GTA		ring finger protein 213							68.0	68.0	68.0					17																	78321522		2203	4300	6503	SO:0001819	synonymous_variant	57674							g.chr17:78321522G>A	AK074030	CCDS58606.1	17q25.3	2013-01-09	2007-02-08	2007-02-08		ENSG00000173821		"""RING-type (C3HC4) zinc fingers"""	14539	protein-coding gene	gene with protein product		613768	"""chromosome 17 open reading frame 27"", ""KIAA1618"", ""moyamoya disease 2"", ""Moyamoya disease 2"""	C17orf27, KIAA1618, MYMY2		10997877, 21048783, 21799892	Standard	NM_020954		Approved	KIAA1554, NET57	uc021uen.2	Q63HN8		ENST00000582970.1:c.9387G>A	17.37:g.78321522G>A							p.V1202V	NM_020914	NP_065965	Q9HCF4	ALO17_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)		4	3829	+	all_neural(118;0.0538)		Error:Variant_position_missing_in_Q9HCF4_after_alignment					C9JCP4|D6RI12|F8WKS1|Q658P6|Q69YK7|Q6MZR1|Q8IWF4|Q8IZX1|Q8IZX2|Q8N406|Q8TEU0|Q9H6C9|Q9H6H9|Q9H6P3|Q9H8A9|Q9HCF4|Q9HCL8	Silent	SNP	ENST00000582970.1	37	c.3606G>A	CCDS58606.1																																																																																				PASS	0.552	RNF213-020	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000443298.1	NM_020914		34	75	34	75	---	---	---	---
SLC38A10	124565	broad.mit.edu	37	17	79250894	79250894	+	Silent	SNP	T	T	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr17:79250894T>A	ENST00000374759.3	-	7	1049	c.666A>T	c.(664-666)tcA>tcT	p.S222S	SLC38A10_ENST00000288439.5_Silent_p.S222S|SLC38A10_ENST00000546352.1_5'UTR	NM_001037984.1	NP_001033073.1	Q9HBR0	S38AA_HUMAN	solute carrier family 38, member 10	222					amino acid transport (GO:0006865)|bone development (GO:0060348)|sodium ion transport (GO:0006814)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)		p.S222S(2)		NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(2)|lung(7)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23	all_neural(118;0.0804)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0272)|OV - Ovarian serous cystadenocarcinoma(97;0.117)			TGGTTTTCACTGACGGCTCAT	0.577																																						uc002jzz.1																			2	Substitution - coding silent(2)		lung(2)	pancreas(1)|skin(1)	2						c.(664-666)TCA>TCT		solute carrier family 38, member 10 isoform a							192.0	141.0	158.0					17																	79250894		2203	4300	6503	SO:0001819	synonymous_variant	124565				amino acid transport|sodium ion transport	integral to membrane		g.chr17:79250894T>A	BC014642	CCDS11780.1, CCDS42397.1	17q25.3	2013-05-22			ENSG00000157637	ENSG00000157637		"""Solute carriers"""	28237	protein-coding gene	gene with protein product							Standard	XM_005257019		Approved	MGC15523, PP1744	uc002jzz.1	Q9HBR0	OTTHUMG00000168049	ENST00000374759.3:c.666A>T	17.37:g.79250894T>A						SLC38A10_uc002jzy.1_Silent_p.S140S|SLC38A10_uc002kab.2_Silent_p.S222S	p.S222S	NM_001037984	NP_001033073	Q9HBR0	S38AA_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0272)|OV - Ovarian serous cystadenocarcinoma(97;0.117)		7	1041	-	all_neural(118;0.0804)|Melanoma(429;0.242)		222					Q6ZRC5|Q8NA99|Q96C66	Silent	SNP	ENST00000374759.3	37	c.666A>T	CCDS42397.1																																																																																				PASS	0.577	SLC38A10-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000397747.1	NM_138570		22	50	22	50	---	---	---	---
MRPL12	6182	broad.mit.edu	37	17	79671382	79671382	+	Silent	SNP	C	C	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr17:79671382C>T	ENST00000333676.3	+	2	328	c.183C>T	c.(181-183)ccC>ccT	p.P61P	SLC25A10_ENST00000541223.1_Silent_p.P61P|SLC25A10_ENST00000571730.1_Silent_p.P61P|RP13-1032I1.7_ENST00000575312.1_RNA	NM_002949.3	NP_002940.2	P52815	RM12_HUMAN	mitochondrial ribosomal protein L12	61					positive regulation of transcription, DNA-templated (GO:0045893)|transcription from mitochondrial promoter (GO:0006390)|translation (GO:0006412)	mitochondrial large ribosomal subunit (GO:0005762)|mitochondrion (GO:0005739)	RNA binding (GO:0003723)|structural constituent of ribosome (GO:0003735)	p.P61P(1)		breast(1)|lung(2)|urinary_tract(1)	4	all_neural(118;0.0878)|all_lung(278;0.23)		BRCA - Breast invasive adenocarcinoma(99;0.0101)|OV - Ovarian serous cystadenocarcinoma(97;0.0955)			AGGAGTACCCCCCCAAGATAC	0.597																																						uc010wut.1																			1	Substitution - coding silent(1)		lung(1)		0						c.(181-183)CCC>CCT		solute carrier family 25 (mitochondrial carrier;	Succinic acid(DB00139)						70.0	62.0	64.0					17																	79671382		2203	4300	6503	SO:0001819	synonymous_variant	1468				gluconeogenesis|mitochondrial transport	integral to membrane|mitochondrial inner membrane|nucleus	protein binding	g.chr17:79671382C>T	X79865	CCDS11785.1	17q25	2012-11-14			ENSG00000262814	ENSG00000262814		"""Mitochondrial ribosomal proteins / large subunits"""	10378	protein-coding gene	gene with protein product		602375		RPML12		8626705, 9169145	Standard	NM_002949		Approved	MRPL7/L12, MRPL7		P52815	OTTHUMG00000178171	ENST00000333676.3:c.183C>T	17.37:g.79671382C>T						MRPL12_uc002kbh.1_Silent_p.P61P	p.P61P	NM_012140	NP_036272	Q9UBX3	DIC_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0117)|OV - Ovarian serous cystadenocarcinoma(97;0.0955)		2	308	+	all_neural(118;0.0878)|Ovarian(332;0.12)|all_lung(278;0.23)		Error:Variant_position_missing_in_Q9UBX3_after_alignment					Q969U0|Q9HCA2|Q9UQJ3	Silent	SNP	ENST00000333676.3	37	c.183C>T	CCDS11785.1																																																																																				PASS	0.597	MRPL12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440812.1	NM_002949		6	34	6	34	---	---	---	---
NOTUM	147111	broad.mit.edu	37	17	79911102	79911102	+	Missense_Mutation	SNP	C	C	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr17:79911102C>T	ENST00000409678.3	-	11	1609	c.1226G>A	c.(1225-1227)cGa>cAa	p.R409Q		NM_178493.5	NP_848588.3	Q6P988	NOTUM_HUMAN	notum pectinacetylesterase homolog (Drosophila)	409						extracellular region (GO:0005576)	hydrolase activity (GO:0016787)	p.R343Q(1)		breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8)|ovary(1)|skin(1)|urinary_tract(1)	15	all_neural(118;0.0878)|Ovarian(332;0.12)		BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0382)			GTGCAGTGCTCGGGGCAGCGA	0.657																																						uc010wvg.1																			1	Substitution - Missense(1)		lung(1)		0						c.(1225-1227)CGA>CAA		notum pectinacetylesterase homolog precursor							18.0	19.0	18.0					17																	79911102		2202	4296	6498	SO:0001583	missense	147111					extracellular region	hydrolase activity	g.chr17:79911102C>T	BC060882	CCDS32771.2	17q25.3	2008-02-05			ENSG00000185269	ENSG00000185269			27106	protein-coding gene	gene with protein product		609847					Standard	NM_178493		Approved		uc010wvg.2	Q6P988	OTTHUMG00000154416	ENST00000409678.3:c.1226G>A	17.37:g.79911102C>T	ENSP00000387310:p.Arg409Gln						p.R409Q	NM_178493	NP_848588	Q6P988	NOTUM_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0382)		11	1498	-	all_neural(118;0.0878)|Ovarian(332;0.12)		409					Q8N410|Q8NI82	Missense_Mutation	SNP	ENST00000409678.3	37	c.1226G>A	CCDS32771.2	.	.	.	.	.	.	.	.	.	.	c	14.26	2.482782	0.44147	.	.	ENSG00000185269	ENST00000409678	.	.	.	4.97	2.96	0.34315	.	0.054353	0.64402	D	0.000001	T	0.50034	0.1592	L	0.38649	1.16	0.40389	D	0.979524	D	0.69078	0.997	P	0.55455	0.776	T	0.39396	-0.9616	9	0.14252	T	0.57	.	10.4293	0.44398	0.0:0.7908:0.135:0.0742	.	409	Q6P988	NOTUM_HUMAN	Q	409	.	ENSP00000387310:R409Q	R	-	2	0	NOTUM	77504392	1.000000	0.71417	0.428000	0.26697	0.546000	0.35178	5.619000	0.67729	0.491000	0.27793	-0.142000	0.14014	CGA		PASS	0.657	NOTUM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335123.2	NM_178493		3	13	3	13	---	---	---	---
FASN	2194	broad.mit.edu	37	17	80040803	80040803	+	Silent	SNP	G	G	A	rs541901851		TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr17:80040803G>A	ENST00000306749.2	-	33	5972	c.5754C>T	c.(5752-5754)tcC>tcT	p.S1918S	FASN_ENST00000579758.1_5'UTR	NM_004104.4	NP_004095.4	P49327	FAS_HUMAN	fatty acid synthase	1918	Beta-ketoacyl reductase. {ECO:0000250}.				acetyl-CoA metabolic process (GO:0006084)|cellular lipid metabolic process (GO:0044255)|cellular response to interleukin-4 (GO:0071353)|energy reserve metabolic process (GO:0006112)|fatty acid biosynthetic process (GO:0006633)|fatty acid metabolic process (GO:0006631)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|osteoblast differentiation (GO:0001649)|pantothenate metabolic process (GO:0015939)|positive regulation of cellular metabolic process (GO:0031325)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|glycogen granule (GO:0042587)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	3-hydroxyoctanoyl-[acyl-carrier-protein] dehydratase activity (GO:0047451)|3-hydroxypalmitoyl-[acyl-carrier-protein] dehydratase activity (GO:0004317)|3-oxoacyl-[acyl-carrier-protein] reductase (NADPH) activity (GO:0004316)|3-oxoacyl-[acyl-carrier-protein] synthase activity (GO:0004315)|[acyl-carrier-protein] S-acetyltransferase activity (GO:0004313)|[acyl-carrier-protein] S-malonyltransferase activity (GO:0004314)|drug binding (GO:0008144)|enoyl-[acyl-carrier-protein] reductase (NADPH, A-specific) activity (GO:0047117)|enoyl-[acyl-carrier-protein] reductase (NADPH, B-specific) activity (GO:0004319)|fatty acid synthase activity (GO:0004312)|myristoyl-[acyl-carrier-protein] hydrolase activity (GO:0016295)|NADPH binding (GO:0070402)|oleoyl-[acyl-carrier-protein] hydrolase activity (GO:0004320)|palmitoyl-[acyl-carrier-protein] hydrolase activity (GO:0016296)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)	p.S1918S(1)		central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(12)|prostate(3)|skin(2)|urinary_tract(1)	34	all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246)		OV - Ovarian serous cystadenocarcinoma(97;0.0211)|BRCA - Breast invasive adenocarcinoma(99;0.0237)		Cerulenin(DB01034)|Orlistat(DB01083)	TCCGGATCCCGGAGCGAGAAG	0.652													.|||	1	0.000199681	0.0	0.0014	5008	,	,		15372	0.0		0.0	False		,,,				2504	0.0				Colon(59;314 1043 11189 28578 32273)	uc002kdu.2																			1	Substitution - coding silent(1)		lung(1)	central_nervous_system(1)	1						c.(5752-5754)TCC>TCT		fatty acid synthase	Cerulenin(DB01034)|Orlistat(DB01083)|Pyrazinamide(DB00339)						60.0	52.0	55.0					17																	80040803		2200	4297	6497	SO:0001819	synonymous_variant	2194				energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|pantothenate metabolic process|positive regulation of cellular metabolic process|triglyceride biosynthetic process	cytosol|Golgi apparatus|melanosome|plasma membrane	3-hydroxypalmitoyl-[acyl-carrier-protein] dehydratase activity|3-oxoacyl-[acyl-carrier-protein] reductase (NADPH) activity|3-oxoacyl-[acyl-carrier-protein] synthase activity|[acyl-carrier-protein] S-acetyltransferase activity|[acyl-carrier-protein] S-malonyltransferase activity|acyl carrier activity|cofactor binding|enoyl-[acyl-carrier-protein] reductase (NADPH, B-specific) activity|myristoyl-[acyl-carrier-protein] hydrolase activity|oleoyl-[acyl-carrier-protein] hydrolase activity|palmitoyl-[acyl-carrier-protein] hydrolase activity|phosphopantetheine binding|protein binding|zinc ion binding	g.chr17:80040803G>A	U26644	CCDS11801.1	17q25	2012-01-31			ENSG00000169710	ENSG00000169710	2.3.1.85	"""Short chain dehydrogenase/reductase superfamily / Atypical members"""	3594	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 27X, member 1"""	600212				7835891, 7567999, 19027726	Standard	NM_004104		Approved	FAS, SDR27X1	uc002kdu.3	P49327		ENST00000306749.2:c.5754C>T	17.37:g.80040803G>A						FASN_uc002kdv.1_5'Flank	p.S1918S	NM_004104	NP_004095	P49327	FAS_HUMAN	OV - Ovarian serous cystadenocarcinoma(97;0.0211)|BRCA - Breast invasive adenocarcinoma(99;0.0237)		33	5871	-	all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246)		1918			Beta-ketoacyl reductase (By similarity).		Q13479|Q16702|Q4LE83|Q6P4U5|Q6SS02|Q969R1|Q96C68|Q96IT0	Silent	SNP	ENST00000306749.2	37	c.5754C>T	CCDS11801.1																																																																																				PASS	0.652	FASN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442369.1	NM_004104		13	45	13	45	---	---	---	---
CCDC57	284001	broad.mit.edu	37	17	80136436	80136437	+	Nonsense_Mutation	DNP	CC	CC	AA			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr17:80136436_80136437CC>AA	ENST00000389641.4	-	10	1455_1456	c.1419_1420GG>TT	c.(1417-1422)caGGag>caTTag	p.473_474QE>H*	CCDC57_ENST00000392343.3_Nonsense_Mutation_p.473_474QE>H*|CCDC57_ENST00000327026.3_5'UTR|CCDC57_ENST00000392347.1_Nonsense_Mutation_p.473_474QE>H*			Q2TAC2	CCD57_HUMAN	coiled-coil domain containing 57	473								p.Q473_E474>H*(2)|p.E474*(2)|p.Q473H(2)		endometrium(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(2)|prostate(1)|urinary_tract(1)	16	Breast(20;0.00285)|all_neural(118;0.0878)|all_lung(278;0.0949)|Lung NSC(278;0.128)|Ovarian(332;0.227)		BRCA - Breast invasive adenocarcinoma(99;0.0232)|OV - Ovarian serous cystadenocarcinoma(97;0.0253)			AGCACCACCTCCTGCTCCTGTA	0.644																																						uc002kdz.1																			6	Substitution - Nonsense(2)|Substitution - Missense(2)|Complex - compound substitution(2)		lung(6)	ovary(2)	2						c.(1420-1422)GAG>TAG|c.(1417-1419)CAG>CAT		coiled-coil domain containing 57																																				SO:0001587	stop_gained	284001							g.chr17:80136436C>A|g.chr17:80136437C>A	BC040264		17q25.3	2006-03-08			ENSG00000176155	ENSG00000176155			27564	protein-coding gene	gene with protein product						12477932	Standard	XM_006722279		Approved	FLJ00130, FLJ23754	uc002kdx.1	Q2TAC2	OTTHUMG00000140396	ENST00000389641.4:c.1419_1420delinsAA	17.37:g.80136436_80136437delinsAA	ENSP00000374292:p.Q473_E474delinsH*					CCDC57_uc002kdx.1_Nonsense_Mutation_p.E474*|CCDC57_uc010dik.1_5'UTR|CCDC57_uc002kdx.1_Missense_Mutation_p.Q473H|CCDC57_uc010dik.1_Translation_Start_Site	p.E474*|p.Q473H	NM_198082	NP_932348	Q2TAC2	CCD57_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0232)|OV - Ovarian serous cystadenocarcinoma(97;0.0253)		11	1775|1774	-	Breast(20;0.00285)|all_neural(118;0.0878)|all_lung(278;0.0949)|Lung NSC(278;0.128)|Ovarian(332;0.227)		474|473			Potential.		A6NP51|A8MQC7|Q8IWG2|Q8TER3	Nonsense_Mutation|Missense_Mutation	SNP	ENST00000389641.4	37	c.1420G>T|c.1419G>T																																																																																					PASS	0.644	CCDC57-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000277182.3	NM_198082		9|7	26|27	7	26	---	---	---	---
B3GNTL1	146712	broad.mit.edu	37	17	80963008	80963008	+	Nonsense_Mutation	SNP	C	C	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr17:80963008C>A	ENST00000320865.3	-	6	500	c.487G>T	c.(487-489)Gag>Tag	p.E163*	B3GNTL1_ENST00000576599.1_Nonsense_Mutation_p.E52*|B3GNTL1_ENST00000571954.1_5'UTR	NM_001009905.1	NP_001009905.1	Q67FW5	B3GNL_HUMAN	UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase-like 1	163							transferase activity, transferring glycosyl groups (GO:0016757)	p.E163*(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	8	Breast(20;0.000443)|all_neural(118;0.0779)	all_cancers(8;0.0396)|all_epithelial(8;0.0556)	BRCA - Breast invasive adenocarcinoma(99;0.0517)|OV - Ovarian serous cystadenocarcinoma(97;0.0868)			AGGAGCTGCTCCGGCGTCAGC	0.572																																						uc002kgg.1																			1	Substitution - Nonsense(1)		lung(1)	ovary(1)|pancreas(1)	2						c.(487-489)GAG>TAG		UDP-GlcNAc:betaGal							172.0	145.0	154.0					17																	80963008		2203	4300	6503	SO:0001587	stop_gained	146712						transferase activity, transferring glycosyl groups	g.chr17:80963008C>A	AY634364	CCDS32778.1	17q25.3	2013-02-22	2004-01-13	2004-01-14	ENSG00000175711	ENSG00000175711		"""Glycosyltransferase family 2 domain containing"""	21727	protein-coding gene	gene with protein product		615337					Standard	NM_001009905		Approved	B3GNT8	uc002kgg.1	Q67FW5	OTTHUMG00000177788	ENST00000320865.3:c.487G>T	17.37:g.80963008C>A	ENSP00000319979:p.Glu163*					B3GNTL1_uc002kgf.1_Nonsense_Mutation_p.E52*|B3GNTL1_uc002kge.1_RNA	p.E163*	NM_001009905	NP_001009905	Q67FW5	B3GNL_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0517)|OV - Ovarian serous cystadenocarcinoma(97;0.0868)		6	501	-	Breast(20;0.000443)|all_neural(118;0.0779)	all_cancers(8;0.0396)|all_epithelial(8;0.0556)	163					Q6GV30|Q8WUT3	Nonsense_Mutation	SNP	ENST00000320865.3	37	c.487G>T	CCDS32778.1	.	.	.	.	.	.	.	.	.	.	C	15.59	2.879748	0.51801	.	.	ENSG00000175711	ENST00000320865	.	.	.	4.07	1.97	0.26223	.	0.574652	0.18379	N	0.143017	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-16.4	4.8636	0.13596	0.0:0.6561:0.2233:0.1206	.	.	.	.	X	163	.	.	E	-	1	0	B3GNTL1	78556297	0.039000	0.19947	0.662000	0.29724	0.020000	0.10135	1.598000	0.36740	1.003000	0.39130	0.655000	0.94253	GAG		PASS	0.572	B3GNTL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438949.1	NM_001009905		17	47	17	47	---	---	---	---
COLEC12	81035	broad.mit.edu	37	18	334952	334952	+	Nonsense_Mutation	SNP	C	C	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr18:334952C>A	ENST00000400256.3	-	6	1813	c.1606G>T	c.(1606-1608)Gga>Tga	p.G536*		NM_130386.2	NP_569057	Q5KU26	COL12_HUMAN	collectin sub-family member 12	536	Collagen-like 3.				carbohydrate mediated signaling (GO:0009756)|defense response (GO:0006952)|innate immune response (GO:0045087)|pattern recognition receptor signaling pathway (GO:0002221)|phagocytosis, recognition (GO:0006910)|protein homooligomerization (GO:0051260)|receptor-mediated endocytosis (GO:0006898)	collagen trimer (GO:0005581)|endocytic vesicle membrane (GO:0030666)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	galactose binding (GO:0005534)|low-density lipoprotein particle binding (GO:0030169)|metal ion binding (GO:0046872)|scavenger receptor activity (GO:0005044)|signaling pattern recognition receptor activity (GO:0008329)	p.G536*(1)		cervix(2)|endometrium(3)|kidney(2)|large_intestine(10)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	46		all_cancers(4;0.0442)|Myeloproliferative disorder(11;0.0426)				CCGGGGAGTCCCTCTTTGCCT	0.731																																						uc002kkm.2																			1	Substitution - Nonsense(1)		lung(1)	ovary(1)|pancreas(1)	2						c.(1606-1608)GGA>TGA		collectin sub-family member 12							10.0	13.0	12.0					18																	334952		2155	4240	6395	SO:0001587	stop_gained	81035				carbohydrate mediated signaling|innate immune response|phagocytosis, recognition|protein homooligomerization	collagen|integral to membrane	galactose binding|low-density lipoprotein particle binding|metal ion binding|pattern recognition receptor activity|scavenger receptor activity	g.chr18:334952C>A	AB038518	CCDS32782.1	18p11.32	2013-09-19			ENSG00000158270	ENSG00000158270		"""Collectins"""	16016	protein-coding gene	gene with protein product		607621				11162630	Standard	NM_130386		Approved	SRCL, CL-P1, SCARA4	uc002kkm.3	Q5KU26	OTTHUMG00000178145	ENST00000400256.3:c.1606G>T	18.37:g.334952C>A	ENSP00000383115:p.Gly536*						p.G536*	NM_130386	NP_569057	Q5KU26	COL12_HUMAN			6	1821	-		all_cancers(4;0.0442)|Myeloproliferative disorder(11;0.0426)	536			Collagen-like 3.|Extracellular (Potential).		Q6P9F2|Q8TCR2|Q8WZA4|Q9BY85|Q9BYH7	Nonsense_Mutation	SNP	ENST00000400256.3	37	c.1606G>T	CCDS32782.1	.	.	.	.	.	.	.	.	.	.	C	36	5.811261	0.96975	.	.	ENSG00000158270	ENST00000400256	.	.	.	5.67	5.67	0.87782	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-12.4769	19.7698	0.96359	0.0:1.0:0.0:0.0	.	.	.	.	X	536	.	ENSP00000383115:G536X	G	-	1	0	COLEC12	324952	1.000000	0.71417	0.820000	0.32676	0.006000	0.05464	7.715000	0.84713	2.659000	0.90383	0.655000	0.94253	GGA		PASS	0.731	COLEC12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440746.1			14	20	14	20	---	---	---	---
RALBP1	10928	broad.mit.edu	37	18	9517070	9517070	+	Missense_Mutation	SNP	G	G	C			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr18:9517070G>C	ENST00000019317.4	+	3	695	c.472G>C	c.(472-474)Gat>Cat	p.D158H	RNU2-27P_ENST00000516185.1_RNA|RP11-61L19.3_ENST00000609094.1_RNA|RALBP1_ENST00000383432.3_Missense_Mutation_p.D158H			Q15311	RBP1_HUMAN	ralA binding protein 1	158					ATP catabolic process (GO:0006200)|chemotaxis (GO:0006935)|positive regulation of Cdc42 GTPase activity (GO:0043089)|regulation of GTPase activity (GO:0043087)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|transport (GO:0006810)	cytosol (GO:0005829)|membrane (GO:0016020)	ATPase activity (GO:0016887)|ATPase activity, coupled to movement of substances (GO:0043492)|GTPase activator activity (GO:0005096)|Rac GTPase activator activity (GO:0030675)|Rac GTPase binding (GO:0048365)|Ral GTPase binding (GO:0017160)	p.D158H(1)		breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(3)|upper_aerodigestive_tract(1)	14					Carbamazepine(DB00564)|Doxorubicin(DB00997)|Sorafenib(DB00398)|Vincristine(DB00541)	gacagcagctgatgttgttaa	0.348																																						uc002kob.2																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1						c.(472-474)GAT>CAT		ralA binding protein 1							29.0	26.0	27.0					18																	9517070		2196	4284	6480	SO:0001583	missense	10928				chemotaxis|positive regulation of Cdc42 GTPase activity|small GTPase mediated signal transduction|transport	cytosol|membrane	ATPase activity, coupled to movement of substances|Rac GTPase activator activity|Rac GTPase binding|Ral GTPase binding	g.chr18:9517070G>C	L42542	CCDS11845.1	18p11.22	2006-04-22			ENSG00000017797	ENSG00000017797			9841	protein-coding gene	gene with protein product		605801				7673236	Standard	NM_006788		Approved	RLIP76, RIP1, RIP	uc002koc.3	Q15311	OTTHUMG00000131596	ENST00000019317.4:c.472G>C	18.37:g.9517070G>C	ENSP00000019317:p.Asp158His					RALBP1_uc002koc.2_Missense_Mutation_p.D158H	p.D158H	NM_006788	NP_006779	Q15311	RBP1_HUMAN			3	695	+			158					D3DUI0	Missense_Mutation	SNP	ENST00000019317.4	37	c.472G>C	CCDS11845.1	.	.	.	.	.	.	.	.	.	.	G	23.4	4.413940	0.83449	.	.	ENSG00000017797	ENST00000019317;ENST00000383432;ENST00000458039	T;T	0.11495	2.77;2.77	5.1	5.1	0.69264	.	0.051596	0.85682	D	0.000000	T	0.26048	0.0635	L	0.36672	1.1	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.00931	-1.1510	10	0.52906	T	0.07	-10.4375	18.8707	0.92313	0.0:0.0:1.0:0.0	.	158	Q15311	RBP1_HUMAN	H	158	ENSP00000019317:D158H;ENSP00000372924:D158H	ENSP00000019317:D158H	D	+	1	0	RALBP1	9507070	1.000000	0.71417	0.991000	0.47740	0.985000	0.73830	9.410000	0.97335	2.513000	0.84729	0.655000	0.94253	GAT		PASS	0.348	RALBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254479.1	NM_006788		11	5	11	5	---	---	---	---
PIEZO2	63895	broad.mit.edu	37	18	10696074	10696074	+	Silent	SNP	C	C	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr18:10696074C>T	ENST00000503781.3	-	43	6848	c.6849G>A	c.(6847-6849)gaG>gaA	p.E2283E	PIEZO2_ENST00000538948.1_Silent_p.E240E|PIEZO2_ENST00000285141.4_Silent_p.E138E|PIEZO2_ENST00000580640.1_Silent_p.E2308E|PIEZO2_ENST00000302079.6_Silent_p.E2283E	NM_022068.2	NP_071351.2	Q9H5I5	PIEZ2_HUMAN	piezo-type mechanosensitive ion channel component 2	2283					cation transport (GO:0006812)|detection of mechanical stimulus involved in sensory perception (GO:0050974)|regulation of membrane potential (GO:0042391)|response to mechanical stimulus (GO:0009612)	integral component of membrane (GO:0016021)	cation channel activity (GO:0005261)|mechanically-gated ion channel activity (GO:0008381)	p.E2283E(1)|p.E138E(1)									GACCTTACCTCTCAGTCACAC	0.498																																						uc002kor.3																			2	Substitution - coding silent(2)		lung(2)	ovary(1)	1						c.(718-720)GAG>GAA		family with sequence similarity 38, member B							115.0	107.0	110.0					18																	10696074		2203	4300	6503	SO:0001819	synonymous_variant	63895					integral to membrane	ion channel activity	g.chr18:10696074C>T	AK027056		18p11.21	2012-11-19	2011-08-31	2011-08-31	ENSG00000154864	ENSG00000154864			26270	protein-coding gene	gene with protein product		613629	"""chromosome 18 open reading frame 30"", ""chromosome 18 open reading frame 58"", ""family with sequence similarity 38, member B"""	FAM38B2, C18orf30, C18orf58, FAM38B		20813920, 21056836, 21299953	Standard	NM_022068		Approved	FLJ23403, FLJ23144, HsT748, HsT771, FLJ34907	uc002kos.2	Q9H5I5	OTTHUMG00000178507	ENST00000503781.3:c.6849G>A	18.37:g.10696074C>T						FAM38B_uc002koq.2_Silent_p.E138E	p.E240E	NM_022068	NP_071351	Q9H5I5	PIEZ2_HUMAN			5	860	-			2283					B7Z812|M4GPJ9|Q6ZS91|Q8N787|Q8NAR6|Q9H5R4	Silent	SNP	ENST00000503781.3	37	c.720G>A																																																																																					PASS	0.498	PIEZO2-003	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000442385.4	NM_022068		79	112	79	112	---	---	---	---
AFG3L2	10939	broad.mit.edu	37	18	12358935	12358935	+	Silent	SNP	G	G	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr18:12358935G>A	ENST00000269143.3	-	8	991	c.760C>T	c.(760-762)Ctg>Ttg	p.L254L		NM_006796.2	NP_006787.2	Q9Y4W6	AFG32_HUMAN	AFG3-like AAA ATPase 2	254					axonogenesis (GO:0007409)|cell death (GO:0008219)|cristae formation (GO:0042407)|mitochondrial fusion (GO:0008053)|mitochondrial protein processing (GO:0034982)|muscle fiber development (GO:0048747)|myelination (GO:0042552)|nerve development (GO:0021675)|neuromuscular junction development (GO:0007528)|regulation of multicellular organism growth (GO:0040014)|righting reflex (GO:0060013)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|metalloendopeptidase activity (GO:0004222)|unfolded protein binding (GO:0051082)|zinc ion binding (GO:0008270)	p.L254L(1)		NS(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(12)|prostate(3)|skin(1)|stomach(3)|urinary_tract(1)	27					Adenosine triphosphate(DB00171)	ATGCTCAGCAGAAAAGAGCTG	0.537																																						uc002kqz.1																			1	Substitution - coding silent(1)		lung(1)		0						c.(760-762)CTG>TTG		AFG3 ATPase family gene 3-like 2	Adenosine triphosphate(DB00171)						31.0	29.0	30.0					18																	12358935		2203	4300	6503	SO:0001819	synonymous_variant	10939				cell death|protein catabolic process|proteolysis	integral to membrane	ATP binding|metalloendopeptidase activity|nucleoside-triphosphatase activity|unfolded protein binding|zinc ion binding	g.chr18:12358935G>A	Y18314	CCDS11859.1	18p11.21	2014-09-17	2013-10-17		ENSG00000141385	ENSG00000141385		"""ATPases / AAA-type"""	315	protein-coding gene	gene with protein product		604581	"""AFG3 (ATPase family gene 3, yeast)-like 2"", ""spinocerebellar ataxia 28"", ""AFG3 ATPase family gene 3-like 2 (yeast)"", ""AFG3 ATPase family gene 3-like 2 (S. cerevisiae)"", ""AFG3 ATPase family member 3-like 2 (S. cerevisiae)"""	SCA28		10395799, 18769991	Standard	NM_006796		Approved	SPAX5	uc002kqz.2	Q9Y4W6	OTTHUMG00000131695	ENST00000269143.3:c.760C>T	18.37:g.12358935G>A							p.L254L	NM_006796	NP_006787	Q9Y4W6	AFG32_HUMAN			8	873	-			254			Helical; (Potential).		Q6P1L0	Silent	SNP	ENST00000269143.3	37	c.760C>T	CCDS11859.1																																																																																				PASS	0.537	AFG3L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254603.2	NM_006796		8	38	8	38	---	---	---	---
ESCO1	114799	broad.mit.edu	37	18	19116018	19116018	+	Silent	SNP	C	C	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr18:19116018C>T	ENST00000269214.5	-	10	3109	c.2172G>A	c.(2170-2172)gcG>gcA	p.A724A		NM_052911.2	NP_443143.2	Q5FWF5	ESCO1_HUMAN	establishment of sister chromatid cohesion N-acetyltransferase 1	724					mitotic cell cycle (GO:0000278)|post-translational protein acetylation (GO:0034421)|regulation of DNA replication (GO:0006275)|sister chromatid cohesion (GO:0007062)	chromatin (GO:0000785)|nucleoplasm (GO:0005654)	metal ion binding (GO:0046872)|transferase activity, transferring acyl groups (GO:0016746)	p.A724A(1)		breast(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(10)|prostate(3)|upper_aerodigestive_tract(1)	35						GGATATGTTCCGCAATTAGGC	0.333																																						uc002kth.1																			1	Substitution - coding silent(1)		lung(1)		0						c.(2170-2172)GCG>GCA		establishment of cohesion 1 homolog 1							141.0	139.0	139.0					18																	19116018		2203	4300	6503	SO:0001819	synonymous_variant	114799				cell cycle|post-translational protein acetylation|regulation of DNA replication	chromatin|nucleus	acyltransferase activity|metal ion binding	g.chr18:19116018C>T	AL832041	CCDS32800.1	18q11.2	2013-05-02	2013-05-02		ENSG00000141446	ENSG00000141446			24645	protein-coding gene	gene with protein product		609674	"""establishment of cohesion 1 homolog 1 (S. cerevisiae)"""			11572484, 14576321, 15958495	Standard	NM_052911		Approved	ESO1, EFO1, KIAA1911	uc002kth.1	Q5FWF5		ENST00000269214.5:c.2172G>A	18.37:g.19116018C>T						ESCO1_uc002kti.1_RNA	p.A724A	NM_052911	NP_443143	Q5FWF5	ESCO1_HUMAN			10	3106	-			724					B0YJ11|B0YJ12|Q69YG4|Q69YS3|Q6IMD7|Q8N3Z5|Q8NBG2|Q96PX7	Silent	SNP	ENST00000269214.5	37	c.2172G>A	CCDS32800.1																																																																																				PASS	0.333	ESCO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443942.1	NM_052911		61	172	61	172	---	---	---	---
OSBPL1A	114876	broad.mit.edu	37	18	21892062	21892062	+	Silent	SNP	C	C	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr18:21892062C>A	ENST00000319481.3	-	13	1184	c.978G>T	c.(976-978)ctG>ctT	p.L326L	OSBPL1A_ENST00000357041.4_5'Flank	NM_080597.3	NP_542164.2	Q9BXW6	OSBL1_HUMAN	oxysterol binding protein-like 1A	326	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cholesterol metabolic process (GO:0008203)|lipid transport (GO:0006869)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|late endosome (GO:0005770)|lysosomal membrane (GO:0005765)|nucleus (GO:0005634)	cholesterol binding (GO:0015485)|phospholipid binding (GO:0005543)	p.L326L(1)		breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(16)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	36	all_cancers(21;0.000396)|all_epithelial(16;4.36e-06)|Lung NSC(20;0.00171)|all_lung(20;0.0055)|Colorectal(14;0.0505)|Ovarian(20;0.17)					CTATTGCTTCCAGCCAGTCCT	0.393																																						uc002kve.2																			1	Substitution - coding silent(1)		lung(1)	ovary(4)	4						c.(976-978)CTG>CTT		oxysterol-binding protein-like 1A isoform B							119.0	112.0	114.0					18																	21892062		2203	4300	6503	SO:0001819	synonymous_variant	114876				cholesterol metabolic process|lipid transport|vesicle-mediated transport		phospholipid binding	g.chr18:21892062C>A	AF392449, AF274714	CCDS11884.1, CCDS11885.1, CCDS56056.1	18q11.2	2014-06-03	2014-06-03	2014-06-03	ENSG00000141447	ENSG00000141447		"""Oxysterol binding proteins"", ""Ankyrin repeat domain containing"""	16398	protein-coding gene	gene with protein product		606730	"""oxysterol binding protein-like 1B"""	OSBPL1B		11279184, 10588946	Standard	NM_080597		Approved	ORP-1, ORP1	uc002kve.3	Q9BXW6	OTTHUMG00000131944	ENST00000319481.3:c.978G>T	18.37:g.21892062C>A						OSBPL1A_uc010xbc.1_5'Flank|OSBPL1A_uc002kvf.3_Silent_p.L106L	p.L326L	NM_080597	NP_542164	Q9BXW6	OSBL1_HUMAN			13	1152	-	all_cancers(21;0.000396)|all_epithelial(16;4.36e-06)|Lung NSC(20;0.00171)|all_lung(20;0.0055)|Colorectal(14;0.0505)|Ovarian(20;0.17)		326			PH.		B7Z7D3|Q9BZF5|Q9NW87	Silent	SNP	ENST00000319481.3	37	c.978G>T	CCDS11884.1																																																																																				PASS	0.393	OSBPL1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254902.1	NM_080597		93	93	93	93	---	---	---	---
CDH2	1000	broad.mit.edu	37	18	25589781	25589781	+	Missense_Mutation	SNP	C	C	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr18:25589781C>A	ENST00000269141.3	-	5	1025	c.602G>T	c.(601-603)gGa>gTa	p.G201V	CDH2_ENST00000399380.3_Missense_Mutation_p.G170V	NM_001792.3	NP_001783.2	P19022	CADH2_HUMAN	cadherin 2, type 1, N-cadherin (neuronal)	201	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|blood vessel morphogenesis (GO:0048514)|calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell migration (GO:0016477)|cell-cell adhesion mediated by cadherin (GO:0044331)|cell-cell junction organization (GO:0045216)|glial cell differentiation (GO:0010001)|heterophilic cell-cell adhesion (GO:0007157)|homophilic cell adhesion (GO:0007156)|muscle cell differentiation (GO:0042692)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|neuronal stem cell maintenance (GO:0097150)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of muscle cell differentiation (GO:0051149)|striated muscle cell differentiation (GO:0051146)	apical plasma membrane (GO:0016324)|catenin complex (GO:0016342)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intercalated disc (GO:0014704)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|synapse (GO:0045202)	alpha-catenin binding (GO:0045294)|beta-catenin binding (GO:0008013)|calcium ion binding (GO:0005509)|gamma-catenin binding (GO:0045295)	p.G201A(1)|p.G201V(1)		NS(1)|breast(5)|cervix(2)|endometrium(7)|kidney(3)|large_intestine(22)|lung(32)|ovary(4)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	82						CTGGTCAGCTCCTGGCCCAGT	0.483																																						uc002kwg.2																			2	Substitution - Missense(2)		lung(2)	ovary(3)|lung(1)	4						c.(601-603)GGA>GTA		cadherin 2, type 1 preproprotein							102.0	95.0	97.0					18																	25589781		2203	4300	6503	SO:0001583	missense	1000				adherens junction organization|cell junction assembly|positive regulation of muscle cell differentiation	catenin complex|integral to membrane	alpha-catenin binding|beta-catenin binding|calcium ion binding|gamma-catenin binding	g.chr18:25589781C>A	S42303	CCDS11891.1	18q12.1	2010-01-26			ENSG00000170558	ENSG00000170558		"""CD molecules"", ""Cadherins / Major cadherins"""	1759	protein-coding gene	gene with protein product	"""N-cadherin"""	114020		NCAD		2384753, 7731968, 2216790	Standard	NM_001792		Approved	CDHN, CD325	uc002kwg.2	P19022	OTTHUMG00000059940	ENST00000269141.3:c.602G>T	18.37:g.25589781C>A	ENSP00000269141:p.Gly201Val					CDH2_uc010xbn.1_Missense_Mutation_p.G170V	p.G201V	NM_001792	NP_001783	P19022	CADH2_HUMAN			5	1061	-			201			Cadherin 1.|Extracellular (Potential).		A8MWK3|B0YIY6|Q14923|Q8N173	Missense_Mutation	SNP	ENST00000269141.3	37	c.602G>T	CCDS11891.1	.	.	.	.	.	.	.	.	.	.	C	31	5.078475	0.94000	.	.	ENSG00000170558	ENST00000269141;ENST00000399380;ENST00000418492;ENST00000430882	T;T;T;D	0.90444	0.58;0.58;0.58;-2.67	5.77	5.77	0.91146	Cadherin (4);Cadherin-like (1);	0.000000	0.85682	D	0.000000	D	0.96234	0.8772	M	0.87381	2.88	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.96088	0.9059	10	0.87932	D	0	.	20.3559	0.98840	0.0:1.0:0.0:0.0	.	170;201	A8MWK3;P19022	.;CADH2_HUMAN	V	201;170;150;116	ENSP00000269141:G201V;ENSP00000382312:G170V;ENSP00000411360:G150V;ENSP00000412120:G116V	ENSP00000269141:G201V	G	-	2	0	CDH2	23843779	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.438000	0.80431	2.890000	0.99128	0.585000	0.79938	GGA		PASS	0.483	CDH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000133246.3	NM_001792		21	57	21	57	---	---	---	---
ASXL3	80816	broad.mit.edu	37	18	31314344	31314344	+	Missense_Mutation	SNP	G	G	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr18:31314344G>T	ENST00000269197.5	+	10	1047	c.1047G>T	c.(1045-1047)tgG>tgT	p.W349C		NM_030632.1	NP_085135.1	Q9C0F0	ASXL3_HUMAN	additional sex combs like transcriptional regulator 3	349					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.W56C(1)|p.W349C(1)		breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	43						CAGAACCTTGGAAAGAAAAAT	0.318																																						uc010dmg.1																			2	Substitution - Missense(2)		lung(2)	ovary(2)|pancreas(1)	3						c.(1045-1047)TGG>TGT		additional sex combs like 3							52.0	51.0	52.0					18																	31314344		1790	4058	5848	SO:0001583	missense	80816				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding	g.chr18:31314344G>T	AB051500	CCDS45847.1	18q11	2014-06-17	2014-06-17	2007-02-01		ENSG00000141431			29357	protein-coding gene	gene with protein product		615115	"""KIAA1713"", ""additional sex combs like 3 (Drosophila)"""	KIAA1713		11214970	Standard	NM_030632		Approved		uc010dmg.1	Q9C0F0		ENST00000269197.5:c.1047G>T	18.37:g.31314344G>T	ENSP00000269197:p.Trp349Cys					ASXL3_uc002kxq.2_Missense_Mutation_p.W56C	p.W349C	NM_030632	NP_085135	Q9C0F0	ASXL3_HUMAN			10	1102	+			349					Q6ZMX6|Q96MU3|Q9UFC5	Missense_Mutation	SNP	ENST00000269197.5	37	c.1047G>T	CCDS45847.1	.	.	.	.	.	.	.	.	.	.	G	21.3	4.124055	0.77436	.	.	ENSG00000141431	ENST00000269197	T	0.77877	-1.13	5.71	5.71	0.89125	.	0.916113	0.09449	N	0.800737	D	0.89784	0.6815	M	0.76838	2.35	0.80722	D	1	D	0.89917	1.0	D	0.72338	0.977	D	0.86994	0.2112	10	0.87932	D	0	.	19.8549	0.96755	0.0:0.0:1.0:0.0	.	349	Q9C0F0	ASXL3_HUMAN	C	349	ENSP00000269197:W349C	ENSP00000269197:W349C	W	+	3	0	ASXL3	29568342	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.313000	0.96297	2.699000	0.92147	0.460000	0.39030	TGG		PASS	0.318	ASXL3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441865.2			12	17	12	17	---	---	---	---
SETBP1	26040	broad.mit.edu	37	18	42533143	42533143	+	Missense_Mutation	SNP	G	G	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr18:42533143G>T	ENST00000282030.5	+	4	4134	c.3838G>T	c.(3838-3840)Gtg>Ttg	p.V1280L		NM_015559.2	NP_056374.2	Q9Y6X0	SETBP_HUMAN	SET binding protein 1	1280						nucleus (GO:0005634)	DNA binding (GO:0003677)	p.V1280L(1)|p.V1226L(1)		NS(1)|breast(2)|endometrium(9)|kidney(9)|large_intestine(20)|lung(47)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	104				Colorectal(1;0.0622)|COAD - Colon adenocarcinoma(74;0.201)		GAACCTGGACGTGTTCAGTGA	0.512									Schinzel-Giedion syndrome																													uc010dni.2																			2	Substitution - Missense(2)		lung(2)	upper_aerodigestive_tract(2)|large_intestine(1)	3						c.(3838-3840)GTG>TTG		SET binding protein 1 isoform a							143.0	125.0	131.0					18																	42533143		2203	4300	6503	SO:0001583	missense	26040	Schinzel-Giedion_syndrome	Familial Cancer Database	SGC, Schinzel-Giedion Midface Retraction syndrome		nucleus	DNA binding	g.chr18:42533143G>T	AB022660	CCDS11923.2, CCDS45859.1	18q21.1	2008-08-01			ENSG00000152217	ENSG00000152217			15573	protein-coding gene	gene with protein product		611060				11231286	Standard	NM_015559		Approved	SEB, KIAA0437	uc010dni.3	Q9Y6X0	OTTHUMG00000132613	ENST00000282030.5:c.3838G>T	18.37:g.42533143G>T	ENSP00000282030:p.Val1280Leu						p.V1280L	NM_015559	NP_056374	Q9Y6X0	SETBP_HUMAN		Colorectal(1;0.0622)|COAD - Colon adenocarcinoma(74;0.201)	4	4134	+			1280					A6H8W5|Q6P6C3|Q9UEF3	Missense_Mutation	SNP	ENST00000282030.5	37	c.3838G>T	CCDS11923.2	.	.	.	.	.	.	.	.	.	.	G	7.844	0.722568	0.15439	.	.	ENSG00000152217	ENST00000282030	T	0.64438	-0.1	6.17	3.21	0.36854	.	0.319821	0.31660	N	0.007276	T	0.32734	0.0839	N	0.04880	-0.145	0.26091	N	0.980959	B	0.06786	0.001	B	0.06405	0.002	T	0.14671	-1.0464	10	0.13470	T	0.59	.	5.7971	0.18394	0.3025:0.135:0.5625:0.0	.	1280	Q9Y6X0	SETBP_HUMAN	L	1280	ENSP00000282030:V1280L	ENSP00000282030:V1280L	V	+	1	0	SETBP1	40787141	0.219000	0.23619	0.965000	0.40720	0.992000	0.81027	0.569000	0.23638	0.816000	0.34421	0.655000	0.94253	GTG		PASS	0.512	SETBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255854.4	NM_001130110		11	41	11	41	---	---	---	---
PHLPP1	23239	broad.mit.edu	37	18	60527717	60527717	+	Missense_Mutation	SNP	A	A	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr18:60527717A>T	ENST00000262719.5	+	4	2183	c.1949A>T	c.(1948-1950)gAa>gTa	p.E650V	PHLPP1_ENST00000400316.4_Missense_Mutation_p.E138V			O60346	PHLP1_HUMAN	PH domain and leucine rich repeat protein phosphatase 1	650					apoptotic process (GO:0006915)|entrainment of circadian clock (GO:0009649)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)	cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|phosphoprotein phosphatase activity (GO:0004721)	p.E650V(2)|p.E137V(1)		endometrium(2)|kidney(2)|lung(13)	17						TGTAGCCTGGAACATCTGCCT	0.463																																						uc002lis.2																			3	Substitution - Missense(3)		lung(3)		0						c.(412-414)GAA>GTA		PH domain and leucine rich repeat protein							57.0	55.0	55.0					18																	60527717		1954	4158	6112	SO:0001583	missense	23239				apoptosis|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling	cytosol|membrane|nucleus	metal ion binding|protein serine/threonine phosphatase activity	g.chr18:60527717A>T	AB011178	CCDS45881.1, CCDS45881.2	18q21.32	2013-01-11	2009-05-26	2009-05-26	ENSG00000081913	ENSG00000081913		"""Serine/threonine phosphatases / Protein phosphatases, Mg2+/Mn2+ dependent"", ""Pleckstrin homology (PH) domain containing"""	20610	protein-coding gene	gene with protein product		609396	"""pleckstrin homology domain containing, family E (with leucine rich repeats) member 1"", ""PH domain and leucine rich repeat protein phosphatase"""	PLEKHE1, PHLPP		10570941, 15808505	Standard	NM_194449		Approved	KIAA0606, SCOP	uc021ule.1	O60346	OTTHUMG00000150629	ENST00000262719.5:c.1949A>T	18.37:g.60527717A>T	ENSP00000262719:p.Glu650Val						p.E138V	NM_194449	NP_919431	O60346	PHLP1_HUMAN			5	591	+			650			LRR 1.		A1A4F5|Q641Q7|Q6P4C4|Q6PJI6|Q86TN6|Q96FK2|Q9NUY1	Missense_Mutation	SNP	ENST00000262719.5	37	c.413A>T	CCDS45881.2	.	.	.	.	.	.	.	.	.	.	A	34	5.369658	0.95900	.	.	ENSG00000081913	ENST00000400316;ENST00000262719	T;T	0.24538	1.85;1.85	5.65	5.65	0.86999	.	.	.	.	.	T	0.38719	0.1051	L	0.39898	1.24	0.80722	D	1	D	0.71674	0.998	P	0.60886	0.88	T	0.03662	-1.1015	9	0.34782	T	0.22	-21.8574	16.0399	0.80667	1.0:0.0:0.0:0.0	.	650	O60346	PHLP1_HUMAN	V	138;650	ENSP00000383170:E138V;ENSP00000262719:E650V	ENSP00000262719:E650V	E	+	2	0	PHLPP1	58678697	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	8.509000	0.90529	2.371000	0.80710	0.533000	0.62120	GAA		PASS	0.463	PHLPP1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319249.2	NM_194449		13	23	13	23	---	---	---	---
SERPINB12	89777	broad.mit.edu	37	18	61231353	61231353	+	Splice_Site	SNP	G	G	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr18:61231353G>T	ENST00000269491.1	+	5	645	c.645G>T	c.(643-645)gcG>gcT	p.A215A	SERPINB12_ENST00000382768.1_Splice_Site_p.A235A	NM_080474.1	NP_536722.1	Q96P63	SPB12_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 12	215					hematopoietic progenitor cell differentiation (GO:0002244)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of protein catabolic process (GO:0042177)|regulation of proteolysis (GO:0030162)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	enzyme binding (GO:0019899)|serine-type endopeptidase inhibitor activity (GO:0004867)	p.A215A(1)		kidney(1)|large_intestine(5)|lung(19)|skin(1)	26						GTCTAAATGCGGTAGTGTATC	0.388																																						uc010xen.1																			1	Substitution - coding silent(1)		lung(1)		0						c.(643-645)GCG>GCT		serine (or cysteine) proteinase inhibitor, clade							182.0	159.0	167.0					18																	61231353		2203	4300	6503	SO:0001630	splice_region_variant	89777				negative regulation of protein catabolic process|regulation of proteolysis	cytoplasm	enzyme binding|serine-type endopeptidase inhibitor activity	g.chr18:61231353G>T	AF411191	CCDS11984.1	18q21.33	2014-02-18	2005-08-18		ENSG00000166634	ENSG00000166634		"""Serine (or cysteine) peptidase inhibitors"""	14220	protein-coding gene	gene with protein product		615662	"""serine (or cysteine) proteinase inhibitor, clade B (ovalbumin), member 12"""			24172014	Standard	NM_080474		Approved	YUKOPIN	uc010xen.2	Q96P63	OTTHUMG00000132789	ENST00000269491.1:c.645+1G>T	18.37:g.61231353G>T						SERPINB12_uc010xeo.1_Silent_p.A235A	p.A215A	NM_080474	NP_536722	Q96P63	SPB12_HUMAN			5	645	+			215					Q3SYB4	Silent	SNP	ENST00000269491.1	37	c.645G>T	CCDS11984.1																																																																																				PASS	0.388	SERPINB12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256197.1	NM_080474	Silent	26	71	26	71	---	---	---	---
CDH7	1005	broad.mit.edu	37	18	63489423	63489423	+	Silent	SNP	A	A	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr18:63489423A>T	ENST00000397968.2	+	5	1158	c.732A>T	c.(730-732)ggA>ggT	p.G244G	CDH7_ENST00000536984.2_Silent_p.G244G|CDH7_ENST00000323011.3_Silent_p.G244G	NM_004361.2	NP_004352.2	Q9ULB5	CADH7_HUMAN	cadherin 7, type 2	244	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.G244G(2)		NS(1)|breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(43)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(2)	80		Esophageal squamous(42;0.129)				GACTGTCAGGAACTACATCAG	0.423																																						uc002ljz.2																			2	Substitution - coding silent(2)		lung(2)	ovary(2)|pancreas(1)|skin(1)	4						c.(730-732)GGA>GGT		cadherin 7, type 2 preproprotein							177.0	126.0	144.0					18																	63489423		2203	4300	6503	SO:0001819	synonymous_variant	1005				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr18:63489423A>T	AB035301	CCDS11993.1	18q22.1	2010-01-26			ENSG00000081138	ENSG00000081138		"""Cadherins / Major cadherins"""	1766	protein-coding gene	gene with protein product		605806				9615235	Standard	NM_033646		Approved		uc002ljz.3	Q9ULB5	OTTHUMG00000132800	ENST00000397968.2:c.732A>T	18.37:g.63489423A>T						CDH7_uc002lka.2_Silent_p.G244G|CDH7_uc002lkb.2_Silent_p.G244G	p.G244G	NM_033646	NP_387450	Q9ULB5	CADH7_HUMAN			5	1057	+		Esophageal squamous(42;0.129)	244			Extracellular (Potential).|Cadherin 2.		Q9H157	Silent	SNP	ENST00000397968.2	37	c.732A>T	CCDS11993.1																																																																																				PASS	0.423	CDH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256217.2	NM_033646		16	38	16	38	---	---	---	---
CBLN2	147381	broad.mit.edu	37	18	70209051	70209051	+	Silent	SNP	G	G	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr18:70209051G>A	ENST00000269503.4	-	3	1118	c.345C>T	c.(343-345)atC>atT	p.I115I	CBLN2_ENST00000581073.1_Intron|CBLN2_ENST00000585159.1_Silent_p.I115I|CBLN2_ENST00000583651.1_Intron|CBLN2_ENST00000584764.1_Intron	NM_182511.3	NP_872317.1	Q8IUK8	CBLN2_HUMAN	cerebellin 2 precursor	115	C1q. {ECO:0000255|PROSITE- ProRule:PRU00368}.				positive regulation of synapse assembly (GO:0051965)	extracellular space (GO:0005615)		p.I115I(1)		endometrium(2)|lung(15)	17		Esophageal squamous(42;0.131)				GGTCGAAATAGATGGTCATGG	0.701																																						uc002lku.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(343-345)ATC>ATT		cerebellin 2 precursor							37.0	31.0	33.0					18																	70209051		2203	4300	6503	SO:0001819	synonymous_variant	147381					integral to membrane		g.chr18:70209051G>A	BC035789	CCDS11999.1	18q22.3	2007-11-19			ENSG00000141668	ENSG00000141668			1544	protein-coding gene	gene with protein product		600433				7877445	Standard	NM_182511		Approved		uc002lkv.2	Q8IUK8	OTTHUMG00000132825	ENST00000269503.4:c.345C>T	18.37:g.70209051G>A						CBLN2_uc002lkv.2_Silent_p.I115I	p.I115I	NM_182511	NP_872317	Q8IUK8	CBLN2_HUMAN			2	580	-		Esophageal squamous(42;0.131)	115			C1q.		Q53Z56	Silent	SNP	ENST00000269503.4	37	c.345C>T	CCDS11999.1																																																																																				PASS	0.701	CBLN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256288.1	NM_182511		5	14	5	14	---	---	---	---
NETO1	81832	broad.mit.edu	37	18	70532460	70532460	+	Silent	SNP	G	G	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr18:70532460G>T	ENST00000327305.6	-	2	702	c.45C>A	c.(43-45)atC>atA	p.I15I	NETO1_ENST00000397929.1_Silent_p.I14I|NETO1_ENST00000580049.1_5'UTR|NETO1_ENST00000299430.2_Silent_p.I14I|NETO1_ENST00000583169.1_Silent_p.I15I	NM_138966.3	NP_620416	Q8TDF5	NETO1_HUMAN	neuropilin (NRP) and tolloid (TLL)-like 1	15					memory (GO:0007613)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|receptor localization to synapse (GO:0097120)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|visual learning (GO:0008542)	cell junction (GO:0030054)|excitatory synapse (GO:0060076)|extracellular region (GO:0005576)|kainate selective glutamate receptor complex (GO:0032983)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)		p.I15I(1)|p.I14I(1)		NS(3)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(36)|ovary(2)|prostate(3)|skin(3)|stomach(1)	63		Esophageal squamous(42;0.129)		READ - Rectum adenocarcinoma(1;0.0487)		AATGGAGGATGATTAAACTTG	0.308																																						uc002lkw.2																			2	Substitution - coding silent(2)		lung(2)	ovary(2)|skin(2)	4						c.(43-45)ATC>ATA		neuropilin- and tolloid-like protein 1 isoform 3							75.0	72.0	73.0					18																	70532460		2203	4299	6502	SO:0001819	synonymous_variant	81832				memory|regulation of long-term neuronal synaptic plasticity|visual learning	cell junction|excitatory synapse|extracellular region|integral to membrane|postsynaptic density|postsynaptic membrane	receptor activity	g.chr18:70532460G>T	AF448838	CCDS12000.1, CCDS42444.1	18q22.2	2008-08-01			ENSG00000166342	ENSG00000166342			13823	protein-coding gene	gene with protein product		607973				11943477, 12810072	Standard	NM_138999		Approved	BTCL1, BCTL1	uc002lkw.3	Q8TDF5	OTTHUMG00000132834	ENST00000327305.6:c.45C>A	18.37:g.70532460G>T						NETO1_uc002lkx.1_Silent_p.I14I|NETO1_uc002lky.1_Silent_p.I15I|NETO1_uc002lkz.2_Silent_p.I14I	p.I15I	NM_138966	NP_620416	Q8TDF5	NETO1_HUMAN		READ - Rectum adenocarcinoma(1;0.0487)	2	329	-		Esophageal squamous(42;0.129)	15					Q86W85|Q8ND78|Q8TDF4	Silent	SNP	ENST00000327305.6	37	c.45C>A	CCDS12000.1																																																																																				PASS	0.308	NETO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256301.2	NM_138999		9	23	9	23	---	---	---	---
NFATC1	4772	broad.mit.edu	37	18	77170980	77170980	+	Silent	SNP	G	G	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr18:77170980G>T	ENST00000427363.2	+	2	705	c.705G>T	c.(703-705)cgG>cgT	p.R235R	NFATC1_ENST00000318065.5_Silent_p.R222R|NFATC1_ENST00000592223.1_Silent_p.R222R|NFATC1_ENST00000587635.1_Silent_p.R235R|NFATC1_ENST00000397790.2_Intron|NFATC1_ENST00000591814.1_Silent_p.R235R|NFATC1_ENST00000586434.1_Silent_p.R222R|NFATC1_ENST00000542384.1_Silent_p.R235R|NFATC1_ENST00000253506.5_Silent_p.R235R|NFATC1_ENST00000329101.4_Silent_p.R222R|NFATC1_ENST00000545796.1_Intron			O95644	NFAC1_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 1	235	3 X SP repeats.			R -> Q (in Ref. 1; AAA19601). {ECO:0000305}.	calcium ion transport (GO:0006816)|epithelial to mesenchymal transition (GO:0001837)|Fc-epsilon receptor signaling pathway (GO:0038095)|G1/S transition of mitotic cell cycle (GO:0000082)|heart development (GO:0007507)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|osteoclast differentiation (GO:0030316)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|transcription factor complex (GO:0005667)	FK506 binding (GO:0005528)|mitogen-activated protein kinase p38 binding (GO:0048273)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|RNA polymerase II transcription factor binding (GO:0001085)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)	p.R222R(1)		NS(2)|breast(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(4)|skin(1)|soft_tissue(1)	40		Esophageal squamous(42;0.0157)|Melanoma(33;0.144)		OV - Ovarian serous cystadenocarcinoma(15;3.73e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0257)	Pseudoephedrine(DB00852)	GTTCCCCGCGGCACTCCCCCT	0.701																																					GBM(151;1210 2593 28719 45011)	uc010xfg.1																			1	Substitution - coding silent(1)		lung(1)	large_intestine(1)|ovary(1)	2						c.(703-705)CGG>CGT		nuclear factor of activated T-cells, cytosolic							18.0	22.0	20.0					18																	77170980		2198	4280	6478	SO:0001819	synonymous_variant	4772				intracellular signal transduction|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleus	FK506 binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding	g.chr18:77170980G>T	U08015	CCDS12015.1, CCDS12016.1, CCDS32850.1, CCDS59326.1, CCDS59327.1, CCDS62467.1, CCDS62468.1, CCDS62469.1, CCDS62470.1, CCDS62471.1	18q23	2009-11-24			ENSG00000131196	ENSG00000131196		"""Nuclear factor of activated T-cells"""	7775	protein-coding gene	gene with protein product		600489				8202141	Standard	NM_001278669		Approved	NF-ATC, NFATc, NFAT2	uc002lnf.3	O95644	OTTHUMG00000132897	ENST00000427363.2:c.705G>T	18.37:g.77170980G>T						NFATC1_uc002lnc.1_Silent_p.R235R|NFATC1_uc010xff.1_Silent_p.R235R|NFATC1_uc002lnd.2_Silent_p.R235R|NFATC1_uc002lne.2_Intron|NFATC1_uc010xfh.1_Silent_p.R235R|NFATC1_uc010xfi.1_Silent_p.R222R|NFATC1_uc010xfj.1_Intron|NFATC1_uc002lnf.2_Silent_p.R222R|NFATC1_uc002lng.2_Silent_p.R222R|NFATC1_uc010xfk.1_Silent_p.R222R	p.R235R	NM_006162	NP_006153	O95644	NFAC1_HUMAN		OV - Ovarian serous cystadenocarcinoma(15;3.73e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0257)	2	1158	+		Esophageal squamous(42;0.0157)|Melanoma(33;0.144)	235	R -> Q (in Ref. 1; AAA19601).		3 X SP repeats.|2.		B5B2M4|B5B2M5|B5B2M6|B5B2M7|B5B2M8|B5B2M9|B5B2N1|Q12865|Q15793|Q2M1S3	Silent	SNP	ENST00000427363.2	37	c.705G>T																																																																																					PASS	0.701	NFATC1-007	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000450507.1	NM_172390		5	22	5	22	---	---	---	---
SHC2	25759	broad.mit.edu	37	19	425194	425194	+	Silent	SNP	C	C	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr19:425194C>A	ENST00000264554.6	-	10	1211	c.1212G>T	c.(1210-1212)cgG>cgT	p.R404R		NM_012435.2	NP_036567.2	P98077	SHC2_HUMAN	SHC (Src homology 2 domain containing) transforming protein 2	404	CH1.				activation of MAPK activity (GO:0000187)|insulin receptor signaling pathway (GO:0008286)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Ras protein signal transduction (GO:0007265)	cytosol (GO:0005829)		p.R765R(1)		endometrium(2)|kidney(1)|large_intestine(2)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	21		all_cancers(10;1.13e-36)|all_epithelial(18;1.46e-23)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.1e-06)|all_lung(49;1.55e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CCGGGGGGCCCCGGGCGTCCG	0.682																																						uc002loq.3																			1	Substitution - coding silent(1)		lung(1)		0						c.(1210-1212)CGG>CGT		SHC (Src homology 2 domain containing)							20.0	25.0	24.0					19																	425194		1857	4087	5944	SO:0001819	synonymous_variant	25759				insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|Ras protein signal transduction	cytosol		g.chr19:425194C>A	AB001451	CCDS45891.1	19p13.3	2013-02-14				ENSG00000129946		"""SH2 domain containing"""	29869	protein-coding gene	gene with protein product	"""neuronal Shc adaptor homolog"""	605217				7527937, 9507002	Standard	NM_012435		Approved	SLI, SCK, SHCB	uc002loq.4	P98077		ENST00000264554.6:c.1212G>T	19.37:g.425194C>A						SHC2_uc002lop.3_Silent_p.R145R	p.R404R	NM_012435	NP_036567	P98077	SHC2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	10	1212	-		all_cancers(10;1.13e-36)|all_epithelial(18;1.46e-23)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.1e-06)|all_lung(49;1.55e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)	404			CH1.		O60230|Q9NPL5|Q9UCX4	Silent	SNP	ENST00000264554.6	37	c.1212G>T	CCDS45891.1																																																																																				PASS	0.682	SHC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451840.3			25	12	25	12	---	---	---	---
PALM	5064	broad.mit.edu	37	19	746411	746411	+	Missense_Mutation	SNP	C	C	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr19:746411C>A	ENST00000338448.5	+	9	807	c.761C>A	c.(760-762)gCa>gAa	p.A254E	PALM_ENST00000593172.1_3'UTR|PALM_ENST00000264560.7_Missense_Mutation_p.A210E	NM_002579.2	NP_002570.2	O75781	PALM_HUMAN	paralemmin	254					cellular component movement (GO:0006928)|cellular response to electrical stimulus (GO:0071257)|cytoskeleton organization (GO:0007010)|negative regulation of adenylate cyclase activity (GO:0007194)|negative regulation of dopamine receptor signaling pathway (GO:0060160)|positive regulation of dendritic spine development (GO:0060999)|positive regulation of filopodium assembly (GO:0051491)|protein targeting to plasma membrane (GO:0072661)|regulation of cell shape (GO:0008360)|synapse maturation (GO:0060074)	apicolateral plasma membrane (GO:0016327)|axon (GO:0030424)|basolateral plasma membrane (GO:0016323)|cytoplasmic membrane-bounded vesicle (GO:0016023)|dendrite membrane (GO:0032590)|dendritic spine membrane (GO:0032591)|filopodium membrane (GO:0031527)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)		p.A254E(1)		endometrium(2)|large_intestine(1)|lung(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	11		all_epithelial(18;2.19e-21)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)|Lung(535;0.201)		GCCGGGGCGGCAGAGACCCGG	0.726																																						uc002lpm.1																			1	Substitution - Missense(1)		lung(1)		0						c.(760-762)GCA>GAA		paralemmin isoform 1							13.0	16.0	15.0					19																	746411		2194	4294	6488	SO:0001583	missense	5064				cellular component movement|negative regulation of adenylate cyclase activity|negative regulation of dopamine receptor signaling pathway|positive regulation of filopodium assembly|regulation of cell shape	cytoplasmic membrane-bounded vesicle|filopodium membrane|integral to plasma membrane		g.chr19:746411C>A	Y16270	CCDS32857.1, CCDS32858.1	19p13.3	2008-07-17				ENSG00000099864			8594	protein-coding gene	gene with protein product		608134				9615234, 9813098	Standard	XM_005259565		Approved	KIAA0270	uc002lpm.1	O75781		ENST00000338448.5:c.761C>A	19.37:g.746411C>A	ENSP00000341911:p.Ala254Glu					PALM_uc002lpn.1_Missense_Mutation_p.A210E|PALM_uc010xfu.1_Missense_Mutation_p.A119E	p.A254E	NM_002579	NP_002570	O75781	PALM_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)|Lung(535;0.201)	9	955	+		all_epithelial(18;2.19e-21)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)	254					O43359|O95673|Q92559|Q9UPJ4|Q9UQS2|Q9UQS3	Missense_Mutation	SNP	ENST00000338448.5	37	c.761C>A	CCDS32857.1	.	.	.	.	.	.	.	.	.	.	C	7.474	0.647369	0.14516	.	.	ENSG00000099864	ENST00000338448;ENST00000264560;ENST00000538247	T;T	0.30448	1.95;1.53	4.71	2.43	0.29744	.	0.658638	0.14002	N	0.348067	T	0.26159	0.0638	M	0.63428	1.95	0.09310	N	1	B;P	0.37781	0.077;0.608	B;B	0.37601	0.026;0.254	T	0.11372	-1.0590	10	0.12103	T	0.63	-6.7275	7.121	0.25444	0.0:0.7322:0.1731:0.0946	.	210;254	O75781-2;O75781	.;PALM_HUMAN	E	254;210;119	ENSP00000341911:A254E;ENSP00000264560:A210E	ENSP00000264560:A210E	A	+	2	0	PALM	697411	0.000000	0.05858	0.005000	0.12908	0.410000	0.31052	0.120000	0.15647	0.973000	0.38340	0.462000	0.41574	GCA		PASS	0.726	PALM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457592.1	NM_002579		3	17	3	17	---	---	---	---
ATP8B3	148229	broad.mit.edu	37	19	1783259	1783259	+	Missense_Mutation	SNP	A	A	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr19:1783259A>T	ENST00000310127.6	-	29	3909	c.3671T>A	c.(3670-3672)gTg>gAg	p.V1224E	ATP8B3_ENST00000525591.1_Missense_Mutation_p.V1187E|ATP8B3_ENST00000539485.1_Missense_Mutation_p.V1234E	NM_138813.3	NP_620168.1	O60423	AT8B3_HUMAN	ATPase, aminophospholipid transporter, class I, type 8B, member 3	1224					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.V1234E(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)		GCCCTCCTCCACCTTCTCCTC	0.587																																						uc002ltw.2																			1	Substitution - Missense(1)		lung(1)		0						c.(3670-3672)GTG>GAG		ATPase, class I, type 8B, member 3							19.0	21.0	20.0					19																	1783259		1995	4134	6129	SO:0001583	missense	148229				ATP biosynthetic process		ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr19:1783259A>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.3671T>A	19.37:g.1783259A>T	ENSP00000311336:p.Val1224Glu					ATP8B3_uc002ltv.2_Missense_Mutation_p.V1187E|ATP8B3_uc002ltx.2_RNA	p.V1224E	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)	29	3905	-		Hepatocellular(1079;0.137)	1224			Cytoplasmic (Potential).		Q7Z485|Q8IVB8|Q8N4Y8|Q96M22	Missense_Mutation	SNP	ENST00000310127.6	37	c.3671T>A	CCDS45901.1	.	.	.	.	.	.	.	.	.	.	A	0.366	-0.936602	0.02340	.	.	ENSG00000130270	ENST00000310127;ENST00000539485;ENST00000525591	T;T;T	0.37058	1.22;1.22;1.22	4.2	-4.75	0.03239	.	2.066970	0.02785	N	0.121434	T	0.25531	0.0621	L	0.53249	1.67	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.28267	-1.0049	10	0.02654	T	1	.	4.8915	0.13730	0.408:0.0:0.3791:0.2129	.	1224;1187	O60423;Q7Z485	AT8B3_HUMAN;.	E	1224;1234;1187	ENSP00000311336:V1224E;ENSP00000443574:V1234E;ENSP00000437115:V1187E	ENSP00000311336:V1224E	V	-	2	0	ATP8B3	1734259	0.000000	0.05858	0.001000	0.08648	0.014000	0.08584	-1.228000	0.02948	-0.600000	0.05790	-0.560000	0.04181	GTG		PASS	0.587	ATP8B3-002	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000388279.1	NM_138813		9	6	9	6	---	---	---	---
TMPRSS9	360200	broad.mit.edu	37	19	2413830	2413830	+	Missense_Mutation	SNP	G	G	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr19:2413830G>A	ENST00000332578.3	+	9	1285	c.1285G>A	c.(1285-1287)Gac>Aac	p.D429N		NM_182973.1	NP_892018.1	Q7Z410	TMPS9_HUMAN	transmembrane protease, serine 9	429	Peptidase S1 1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				plasminogen activation (GO:0031639)	integral component of plasma membrane (GO:0005887)	serine-type endopeptidase activity (GO:0004252)	p.D429N(1)		breast(1)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29				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)		CAGGCTACGTGACTGGATCCT	0.677																																						uc010xgx.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.(1285-1287)GAC>AAC		transmembrane protease, serine 9							40.0	42.0	41.0					19																	2413830		2203	4300	6503	SO:0001583	missense	360200				proteolysis	integral to plasma membrane	serine-type endopeptidase activity	g.chr19:2413830G>A	AJ488946	CCDS12088.1	19p13.3	2010-04-13						"""Serine peptidases / Transmembrane"""	30079	protein-coding gene	gene with protein product	"""polyserase 1"""	610477				12886014	Standard	NM_182973		Approved		uc010xgx.2	Q7Z410		ENST00000332578.3:c.1285G>A	19.37:g.2413830G>A	ENSP00000330264:p.Asp429Asn					TMPRSS9_uc002lvv.1_Missense_Mutation_p.D463N	p.D429N	NM_182973	NP_892018	Q7Z410	TMPS9_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)	9	1285	+			429			Extracellular (Potential).|Peptidase S1 1.		Q6ZND6|Q7Z411	Missense_Mutation	SNP	ENST00000332578.3	37	c.1285G>A	CCDS12088.1	.	.	.	.	.	.	.	.	.	.	G	2.650	-0.282063	0.05642	.	.	ENSG00000178297	ENST00000395264;ENST00000332578	T	0.61980	0.06	4.04	0.687	0.18020	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.556967	0.15806	N	0.243702	T	0.48150	0.1484	L	0.39692	1.235	0.19775	N	0.999956	B;B	0.15719	0.01;0.014	B;B	0.26864	0.074;0.033	T	0.34354	-0.9832	10	0.25106	T	0.35	.	6.7823	0.23652	0.4019:0.0:0.5981:0.0	.	429;463	Q7Z410;E7EMP4	TMPS9_HUMAN;.	N	463;429	ENSP00000330264:D429N	ENSP00000330264:D429N	D	+	1	0	TMPRSS9	2364830	0.985000	0.35326	0.124000	0.21820	0.006000	0.05464	2.047000	0.41269	0.226000	0.20979	-0.300000	0.09419	GAC		PASS	0.677	TMPRSS9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451330.3	NM_182973		39	39	39	39	---	---	---	---
ZNF554	115196	broad.mit.edu	37	19	2834576	2834576	+	Missense_Mutation	SNP	G	G	T	rs540132323		TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr19:2834576G>T	ENST00000317243.5	+	5	1541	c.1343G>T	c.(1342-1344)cGt>cTt	p.R448L		NM_001102651.1	NP_001096121.1	Q86TJ5	ZN554_HUMAN	zinc finger protein 554	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)	p.R448L(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|liver(3)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)	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)		TTCAGTGACCGTTCCTCTCTC	0.537																																						uc002lwm.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1342-1344)CGT>CTT		zinc finger protein 554							70.0	80.0	77.0					19																	2834576		2200	4299	6499	SO:0001583	missense	115196				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:2834576G>T	AK027860	CCDS42462.1	19p13.3	2013-09-20			ENSG00000172006	ENSG00000172006		"""Zinc fingers, C2H2-type"", ""-"""	26629	protein-coding gene	gene with protein product						12477932	Standard	NM_001102651		Approved	FLJ34817	uc002lwm.2	Q86TJ5	OTTHUMG00000180493	ENST00000317243.5:c.1343G>T	19.37:g.2834576G>T	ENSP00000321132:p.Arg448Leu					ZNF554_uc002lwl.2_Missense_Mutation_p.R397L	p.R448L	NM_001102651	NP_001096121	Q86TJ5	ZN554_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)	5	1541	+		Hepatocellular(1079;0.137)	448			C2H2-type 6.		Q8NAT3|Q9BWN3	Missense_Mutation	SNP	ENST00000317243.5	37	c.1343G>T	CCDS42462.1	.	.	.	.	.	.	.	.	.	.	G	2.128	-0.399731	0.04865	.	.	ENSG00000172006	ENST00000317243	T	0.20598	2.06	2.86	0.71	0.18157	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.13372	0.0324	L	0.41824	1.3	0.09310	N	1	B	0.27732	0.187	B	0.20184	0.028	T	0.24548	-1.0157	9	0.38643	T	0.18	.	2.9409	0.05830	0.2866:0.2423:0.4712:0.0	.	448	Q86TJ5	ZN554_HUMAN	L	448	ENSP00000321132:R448L	ENSP00000321132:R448L	R	+	2	0	ZNF554	2785576	0.000000	0.05858	0.004000	0.12327	0.229000	0.25112	-0.930000	0.03972	0.543000	0.28864	0.643000	0.83706	CGT		PASS	0.537	ZNF554-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451598.3	NM_152303		33	21	33	21	---	---	---	---
ZNF556	80032	broad.mit.edu	37	19	2877357	2877357	+	Missense_Mutation	SNP	G	G	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr19:2877357G>A	ENST00000307635.2	+	4	488	c.401G>A	c.(400-402)cGt>cAt	p.R134H	ZNF556_ENST00000586426.1_Missense_Mutation_p.R133H	NM_024967.1	NP_079243.1	Q9HAH1	ZN556_HUMAN	zinc finger protein 556	134					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.R134H(1)		endometrium(2)|kidney(1)|large_intestine(7)|lung(10)|pancreas(1)|prostate(3)|skin(7)	31				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)		AATTGTAATCGTCATCTGCGC	0.418																																						uc002lwp.1																			1	Substitution - Missense(1)		lung(1)	skin(3)	3						c.(400-402)CGT>CAT		zinc finger protein 556							127.0	109.0	115.0					19																	2877357		2203	4300	6503	SO:0001583	missense	80032				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:2877357G>A	BC009374	CCDS12097.1, CCDS74254.1	19p13.3	2013-09-20			ENSG00000172000	ENSG00000172000		"""Zinc fingers, C2H2-type"", ""-"""	25669	protein-coding gene	gene with protein product						12477932	Standard	XM_005259647		Approved	FLJ11637	uc002lwp.1	Q9HAH1	OTTHUMG00000180501	ENST00000307635.2:c.401G>A	19.37:g.2877357G>A	ENSP00000302603:p.Arg134His					ZNF556_uc002lwq.2_Missense_Mutation_p.R133H	p.R134H	NM_024967	NP_079243	Q9HAH1	ZN556_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)	4	488	+			134					Q96GM3	Missense_Mutation	SNP	ENST00000307635.2	37	c.401G>A	CCDS12097.1	.	.	.	.	.	.	.	.	.	.	G	9.857	1.195324	0.22037	.	.	ENSG00000172000	ENST00000307635	T	0.06068	3.35	0.859	-1.72	0.08107	.	.	.	.	.	T	0.03520	0.0101	L	0.49571	1.57	0.09310	N	1	D	0.56287	0.975	B	0.33846	0.171	T	0.41574	-0.9501	9	0.14252	T	0.57	.	2.2463	0.04032	0.0:0.3223:0.3568:0.3209	.	134	Q9HAH1	ZN556_HUMAN	H	134	ENSP00000302603:R134H	ENSP00000302603:R134H	R	+	2	0	ZNF556	2828357	0.000000	0.05858	0.012000	0.15200	0.074000	0.17049	-4.711000	0.00195	0.202000	0.20498	0.205000	0.17691	CGT		PASS	0.418	ZNF556-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000451638.2	NM_024967		50	36	50	36	---	---	---	---
TMIGD2	126259	broad.mit.edu	37	19	4298101	4298101	+	Silent	SNP	G	G	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr19:4298101G>T	ENST00000301272.2	-	2	333	c.288C>A	c.(286-288)acC>acA	p.T96T	TMIGD2_ENST00000595645.1_Silent_p.T96T|TMIGD2_ENST00000600114.1_Intron|TMIGD2_ENST00000600349.1_Intron	NM_001169126.1|NM_144615.2	NP_001162597.1|NP_653216.2	Q96BF3	TMIG2_HUMAN	transmembrane and immunoglobulin domain containing 2	96	Ig-like.				positive regulation of activated T cell proliferation (GO:0042104)|positive regulation of cytokine production (GO:0001819)|signal transduction (GO:0007165)|T cell costimulation (GO:0031295)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	coreceptor activity (GO:0015026)	p.T96T(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|prostate(1)|skin(2)	19				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0339)|STAD - Stomach adenocarcinoma(1328;0.18)		CCAGCTGCAGGGTGAGATGGC	0.647																																						uc002lzx.1																			1	Substitution - coding silent(1)		lung(1)		0						c.(286-288)ACC>ACA		transmembrane and immunoglobulin domain							60.0	61.0	61.0					19																	4298101		2203	4300	6503	SO:0001819	synonymous_variant	126259					integral to membrane		g.chr19:4298101G>T	BC015655	CCDS12126.1, CCDS59334.1	19p13.3	2014-02-12	2006-07-05					"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	28324	protein-coding gene	gene with protein product		614715					Standard	NM_144615		Approved	MGC23244	uc002lzx.2	Q96BF3		ENST00000301272.2:c.288C>A	19.37:g.4298101G>T						TMIGD2_uc010dtv.1_Silent_p.T96T	p.T96T	NM_144615	NP_653216	Q96BF3	TMIG2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0339)|STAD - Stomach adenocarcinoma(1328;0.18)	2	334	-			96			Extracellular (Potential).|Ig-like.		Q6UW59	Silent	SNP	ENST00000301272.2	37	c.288C>A	CCDS12126.1																																																																																				PASS	0.647	TMIGD2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000458088.1	NM_144615		51	53	51	53	---	---	---	---
VAV1	7409	broad.mit.edu	37	19	6853990	6853990	+	Missense_Mutation	SNP	G	G	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr19:6853990G>A	ENST00000602142.1	+	26	2447	c.2365G>A	c.(2365-2367)Gcc>Acc	p.A789T	VAV1_ENST00000596764.1_Missense_Mutation_p.A757T|VAV1_ENST00000539284.1_Missense_Mutation_p.A692T|VAV1_ENST00000304076.2_Missense_Mutation_p.A767T|VAV1_ENST00000599806.1_Missense_Mutation_p.A734T	NM_005428.3	NP_005419.2	P15498	VAV_HUMAN	vav 1 guanine nucleotide exchange factor	789	SH3 2. {ECO:0000255|PROSITE- ProRule:PRU00192}.				apoptotic signaling pathway (GO:0097190)|blood coagulation (GO:0007596)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G-protein coupled receptor signaling pathway (GO:0007186)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|neurotrophin TRK receptor signaling pathway (GO:0048011)|neutrophil chemotaxis (GO:0030593)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet activation (GO:0030168)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell adhesion (GO:0045785)|reactive oxygen species metabolic process (GO:0072593)|regulation of Rac GTPase activity (GO:0032314)|regulation of small GTPase mediated signal transduction (GO:0051056)|regulation of transcription, DNA-templated (GO:0006355)|small GTPase mediated signal transduction (GO:0007264)|T cell activation (GO:0042110)|T cell costimulation (GO:0031295)	cell-cell junction (GO:0005911)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.A789T(1)		biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(16)|lung(18)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	62						CACAGCCAAAGCCCGCTATGA	0.542																																						uc002mfu.1																			1	Substitution - Missense(1)		lung(1)	lung(4)|ovary(4)|breast(3)|central_nervous_system(2)|kidney(2)|skin(1)	16						c.(2365-2367)GCC>ACC		vav 1 guanine nucleotide exchange factor							104.0	96.0	98.0					19																	6853990		2203	4300	6503	SO:0001583	missense	7409				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|T cell costimulation	cytosol|plasma membrane	metal ion binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr19:6853990G>A		CCDS12174.1, CCDS59341.1, CCDS59342.1	19p13.2	2013-02-14	2007-07-25			ENSG00000141968		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"", ""SH2 domain containing"""	12657	protein-coding gene	gene with protein product		164875	"""vav 1 oncogene"""	VAV		9438848	Standard	NM_005428		Approved		uc010xjh.2	P15498		ENST00000602142.1:c.2365G>A	19.37:g.6853990G>A	ENSP00000472929:p.Ala789Thr					VAV1_uc010xjh.1_Missense_Mutation_p.A757T|VAV1_uc010dva.1_Missense_Mutation_p.A767T|VAV1_uc002mfv.1_Missense_Mutation_p.A734T	p.A789T	NM_005428	NP_005419	P15498	VAV_HUMAN			26	2462	+			789			SH3 2.		B4DVK9|M0QXX6|Q15860	Missense_Mutation	SNP	ENST00000602142.1	37	c.2365G>A	CCDS12174.1	.	.	.	.	.	.	.	.	.	.	G	21.6	4.169894	0.78452	.	.	ENSG00000141968	ENST00000304076;ENST00000539284	T	0.81247	-1.47	4.35	4.35	0.52113	Src homology-3 domain (5);	0.063689	0.64402	D	0.000009	D	0.89543	0.6745	M	0.86343	2.81	0.80722	D	1	B;P;P;P	0.52170	0.138;0.871;0.951;0.951	B;P;P;P	0.62014	0.2;0.793;0.863;0.897	D	0.91486	0.5208	10	0.87932	D	0	.	14.4087	0.67101	0.0:0.0:1.0:0.0	.	692;789;734;789	F5H5P4;B2R8B5;Q96D37;P15498	.;.;.;VAV_HUMAN	T	789;692	ENSP00000443242:A692T	ENSP00000302269:A789T	A	+	1	0	VAV1	6804990	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	8.237000	0.89807	2.278000	0.76064	0.561000	0.74099	GCC		PASS	0.542	VAV1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458475.1			88	79	88	79	---	---	---	---
FCER2	2208	broad.mit.edu	37	19	7762180	7762180	+	Silent	SNP	C	C	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr19:7762180C>A	ENST00000346664.5	-	6	470	c.258G>T	c.(256-258)acG>acT	p.T86T	FCER2_ENST00000597921.1_Silent_p.T86T|FCER2_ENST00000360067.4_Silent_p.T85T	NM_001220500.1|NM_002002.4	NP_001207429.1|NP_001993.2	P06734	FCER2_HUMAN	Fc fragment of IgE, low affinity II, receptor for (CD23)	86					Notch signaling pathway (GO:0007219)|positive regulation of humoral immune response mediated by circulating immunoglobulin (GO:0002925)|positive regulation of killing of cells of other organism (GO:0051712)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|integrin binding (GO:0005178)|metal ion binding (GO:0046872)	p.T86T(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|upper_aerodigestive_tract(1)	10						GTGAAATCTGCGTGGCTGTTT	0.552																																						uc002mhn.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(256-258)ACG>ACT		Fc fragment of IgE, low affinity II, receptor							72.0	72.0	72.0					19																	7762180		2203	4300	6503	SO:0001819	synonymous_variant	2208				positive regulation of killing of cells of other organism|positive regulation of nitric-oxide synthase 2 biosynthetic process|positive regulation of nitric-oxide synthase activity	extracellular region|integral to plasma membrane	IgE binding|integrin binding|receptor activity|sugar binding	g.chr19:7762180C>A	M15059	CCDS12184.1	19p13.3	2011-08-30	2006-03-09			ENSG00000104921		"""C-type lectin domain containing"", ""CD molecules"""	3612	protein-coding gene	gene with protein product		151445	"""Fc fragment of IgE, low affinity II, receptor for (CD23A)"""	CD23A, FCE2			Standard	NM_002002		Approved	CLEC4J, CD23	uc002mhm.2	P06734		ENST00000346664.5:c.258G>T	19.37:g.7762180C>A						FCER2_uc010xjs.1_Silent_p.T8T|FCER2_uc010xjt.1_Silent_p.T8T|FCER2_uc002mhm.2_Silent_p.T86T|FCER2_uc010dvo.2_Silent_p.T86T	p.T86T	NM_002002	NP_001993	P06734	FCER2_HUMAN			6	442	-			86			Extracellular (Potential).|			Silent	SNP	ENST00000346664.5	37	c.258G>T	CCDS12184.1																																																																																				PASS	0.552	FCER2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000461832.1	NM_002002		37	31	37	31	---	---	---	---
MUC16	94025	broad.mit.edu	37	19	9012814	9012814	+	Missense_Mutation	SNP	G	G	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr19:9012814G>T	ENST00000397910.4	-	34	38833	c.38630C>A	c.(38629-38631)tCc>tAc	p.S12877Y		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	12879	SEA 6. {ECO:0000255|PROSITE- ProRule:PRU00188}.			Missing (in Ref. 3; AAK74120). {ECO:0000305}.	cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)		p.S29Y(1)|p.S12877Y(1)		NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GAACTTCCTGGAGCCTGGGTG	0.597																																						uc002mkp.2																			2	Substitution - Missense(2)		lung(2)	lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						c.(38629-38631)TCC>TAC		mucin 16							202.0	173.0	183.0					19																	9012814		2019	4179	6198	SO:0001583	missense	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9012814G>T	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.38630C>A	19.37:g.9012814G>T	ENSP00000381008:p.Ser12877Tyr					MUC16_uc010xki.1_RNA	p.S12877Y	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN			34	38834	-			12879	Missing (in Ref. 3; AAK74120).		SEA 6.|Extracellular (Potential).		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	c.38630C>A	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	.	10.25	1.298097	0.23650	.	.	ENSG00000181143	ENST00000397910;ENST00000441155	T	0.63417	-0.04	1.92	1.92	0.25849	.	.	.	.	.	T	0.78836	0.4346	M	0.89658	3.05	.	.	.	D	0.69078	0.997	D	0.72982	0.979	T	0.82518	-0.0417	8	0.87932	D	0	-16.4811	7.3308	0.26582	0.0:0.0:1.0:0.0	.	12877	B5ME49	.	Y	12877;30	ENSP00000381008:S12877Y	ENSP00000381008:S12877Y	S	-	2	0	MUC16	8873814	0.958000	0.32768	0.004000	0.12327	0.015000	0.08874	4.399000	0.59703	1.380000	0.46344	0.305000	0.20034	TCC		PASS	0.597	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		85	68	85	68	---	---	---	---
MUC16	94025	broad.mit.edu	37	19	9045689	9045689	+	Missense_Mutation	SNP	G	G	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr19:9045689G>T	ENST00000397910.4	-	5	36145	c.35942C>A	c.(35941-35943)aCa>aAa	p.T11981K		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	11983	Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)		p.T11981K(1)|p.T7614K(1)		NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						ACTGGAACCTGTGGTAGCTAA	0.498																																						uc002mkp.2																			2	Substitution - Missense(2)		lung(2)	lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						c.(35941-35943)ACA>AAA		mucin 16							188.0	188.0	188.0					19																	9045689		1986	4158	6144	SO:0001583	missense	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9045689G>T	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.35942C>A	19.37:g.9045689G>T	ENSP00000381008:p.Thr11981Lys						p.T11981K	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN			5	36146	-			11983			Thr-rich.|Extracellular (Potential).		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	c.35942C>A	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	G	8.511	0.866451	0.17250	.	.	ENSG00000181143	ENST00000397910	T	0.02236	4.38	3.7	2.67	0.31697	.	.	.	.	.	T	0.04907	0.0132	N	0.24115	0.695	.	.	.	D	0.76494	0.999	D	0.78314	0.991	T	0.35276	-0.9795	8	0.87932	D	0	.	6.8842	0.24191	0.124:0.0:0.876:0.0	.	11981	B5ME49	.	K	11981	ENSP00000381008:T11981K	ENSP00000381008:T11981K	T	-	2	0	MUC16	8906689	0.973000	0.33851	0.084000	0.20598	0.015000	0.08874	2.546000	0.45778	1.145000	0.42336	0.484000	0.47621	ACA		PASS	0.498	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		21	21	21	21	---	---	---	---
MUC16	94025	broad.mit.edu	37	19	9046271	9046272	+	Missense_Mutation	DNP	GG	GG	TT	rs144987884	byFrequency	TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr19:9046271_9046272GG>TT	ENST00000397910.4	-	5	35562_35563	c.35359_35360CC>AA	c.(35359-35361)CCt>AAt	p.P11787N		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	11789	Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)		p.P7420N(1)|p.P7420H(1)|p.P11787N(1)|p.P11787H(1)|p.P11787T(1)|p.P7420T(1)		NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						AGTTGAAGCAGGAAATGTTTTA	0.475																																						uc002mkp.2																			6	Substitution - Missense(6)		lung(6)	lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						c.(35359-35361)CCT>CAT|c.(35359-35361)CCT>ACT		mucin 16																																				SO:0001583	missense	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9046271G>T|g.chr19:9046272G>T	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.35359_35360delinsTT	19.37:g.9046271_9046272delinsTT	ENSP00000381008:p.Pro11787Asn						p.P11787H|p.P11787T	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN			5	35564|35563	-			11789			Thr-rich.|Extracellular (Potential).		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	c.35360C>A|c.35359C>A	CCDS54212.1																																																																																				PASS	0.475	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		33|34	29|28	33	28	---	---	---	---
MUC16	94025	broad.mit.edu	37	19	9072189	9072189	+	Missense_Mutation	SNP	C	C	A	rs533387298		TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr19:9072189C>A	ENST00000397910.4	-	3	15460	c.15257G>T	c.(15256-15258)cGc>cTc	p.R5086L		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	5088	Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)		p.R5086L(2)|p.R719L(1)		NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						AGGTTCCAAGCGTGTACGTAA	0.433																																						uc002mkp.2																			3	Substitution - Missense(3)		lung(3)	lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						c.(15256-15258)CGC>CTC		mucin 16							182.0	163.0	169.0					19																	9072189		1914	4129	6043	SO:0001583	missense	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9072189C>A	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.15257G>T	19.37:g.9072189C>A	ENSP00000381008:p.Arg5086Leu						p.R5086L	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN			3	15461	-			5088			Thr-rich.|Extracellular (Potential).		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	c.15257G>T	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	c	6.792	0.515189	0.12944	.	.	ENSG00000181143	ENST00000397910	T	0.17054	2.3	1.78	0.68	0.17980	.	.	.	.	.	T	0.05868	0.0153	N	0.08118	0	.	.	.	P	0.43412	0.806	B	0.29716	0.106	T	0.24048	-1.0171	8	0.87932	D	0	.	4.6296	0.12495	0.0:0.7992:0.0:0.2008	.	5086	B5ME49	.	L	5086	ENSP00000381008:R5086L	ENSP00000381008:R5086L	R	-	2	0	MUC16	8933189	0.000000	0.05858	0.000000	0.03702	0.419000	0.31324	-0.901000	0.04093	0.324000	0.23333	0.282000	0.19409	CGC		PASS	0.433	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		82	81	82	81	---	---	---	---
MUC16	94025	broad.mit.edu	37	19	9072904	9072904	+	Missense_Mutation	SNP	C	C	G			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr19:9072904C>G	ENST00000397910.4	-	3	14745	c.14542G>C	c.(14542-14544)Gtc>Ctc	p.V4848L		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	4850	Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)		p.V4848L(2)|p.V481L(1)		NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TAAGCTGAGACAGTAGAATGT	0.443																																						uc002mkp.2																			3	Substitution - Missense(3)		lung(3)	lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						c.(14542-14544)GTC>CTC		mucin 16							178.0	166.0	170.0					19																	9072904		2056	4189	6245	SO:0001583	missense	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9072904C>G	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.14542G>C	19.37:g.9072904C>G	ENSP00000381008:p.Val4848Leu						p.V4848L	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN			3	14746	-			4850			Thr-rich.|Extracellular (Potential).		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	c.14542G>C	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	c	4.797	0.148168	0.09134	.	.	ENSG00000181143	ENST00000397910	T	0.32515	1.45	2.09	0.922	0.19408	.	.	.	.	.	T	0.21227	0.0511	N	0.14661	0.345	.	.	.	P	0.43701	0.815	P	0.46975	0.533	T	0.23404	-1.0189	8	0.87932	D	0	.	5.442	0.16515	0.3314:0.6686:0.0:0.0	.	4848	B5ME49	.	L	4848	ENSP00000381008:V4848L	ENSP00000381008:V4848L	V	-	1	0	MUC16	8933904	0.000000	0.05858	0.000000	0.03702	0.038000	0.13279	-0.558000	0.05978	0.383000	0.24910	0.306000	0.20318	GTC		PASS	0.443	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		41	42	41	42	---	---	---	---
MUC16	94025	broad.mit.edu	37	19	9076689	9076689	+	Missense_Mutation	SNP	G	G	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr19:9076689G>T	ENST00000397910.4	-	3	10960	c.10757C>A	c.(10756-10758)aCa>aAa	p.T3586K		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	3587	Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)		p.T3586K(2)		NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TGATGCAGCTGTGGAAGACCA	0.488																																						uc002mkp.2																			2	Substitution - Missense(2)		lung(2)	lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						c.(10756-10758)ACA>AAA		mucin 16							153.0	151.0	152.0					19																	9076689		2085	4210	6295	SO:0001583	missense	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9076689G>T	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.10757C>A	19.37:g.9076689G>T	ENSP00000381008:p.Thr3586Lys						p.T3586K	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN			3	10961	-			3587			Thr-rich.|Extracellular (Potential).		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	c.10757C>A	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	g	3.323	-0.138274	0.06669	.	.	ENSG00000181143	ENST00000397910	T	0.02472	4.28	1.42	-1.67	0.08238	.	.	.	.	.	T	0.01387	0.0045	N	0.08118	0	.	.	.	B	0.30686	0.29	B	0.20184	0.028	T	0.45338	-0.9268	8	0.87932	D	0	.	3.5255	0.07757	0.0:0.2765:0.4437:0.2798	.	3586	B5ME49	.	K	3586	ENSP00000381008:T3586K	ENSP00000381008:T3586K	T	-	2	0	MUC16	8937689	0.020000	0.18652	0.002000	0.10522	0.116000	0.19942	0.094000	0.15107	-0.317000	0.08677	0.313000	0.20887	ACA		PASS	0.488	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		67	46	67	46	---	---	---	---
MUC16	94025	broad.mit.edu	37	19	9087693	9087693	+	Silent	SNP	G	G	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr19:9087693G>T	ENST00000397910.4	-	1	4325	c.4122C>A	c.(4120-4122)ccC>ccA	p.P1374P		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	1374	Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)		p.P1374P(2)		NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TGGTGAGATTGGGTGAACTTG	0.468																																						uc002mkp.2																			2	Substitution - coding silent(2)		lung(2)	lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						c.(4120-4122)CCC>CCA		mucin 16							165.0	169.0	168.0					19																	9087693		2188	4294	6482	SO:0001819	synonymous_variant	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9087693G>T	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.4122C>A	19.37:g.9087693G>T							p.P1374P	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN			1	4326	-			1374			Thr-rich.|Extracellular (Potential).		Q6ZQW5|Q96RK2	Silent	SNP	ENST00000397910.4	37	c.4122C>A	CCDS54212.1																																																																																				PASS	0.468	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		40	50	40	50	---	---	---	---
OR7D4	125958	broad.mit.edu	37	19	9324727	9324727	+	Missense_Mutation	SNP	C	C	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr19:9324727C>A	ENST00000308682.2	-	1	815	c.787G>T	c.(787-789)Gct>Tct	p.A263S		NM_001005191.2	NP_001005191.1	Q8NG98	OR7D4_HUMAN	olfactory receptor, family 7, subfamily D, member 4	263						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.A263S(1)		breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(2)|skin(3)|stomach(1)	26						TGGGTCACAGCAGAACTCAGA	0.537																																						uc002mla.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)|central_nervous_system(1)|skin(1)	4						c.(787-789)GCT>TCT		olfactory receptor, family 7, subfamily D,							71.0	64.0	66.0					19																	9324727		2203	4300	6503	SO:0001583	missense	125958				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr19:9324727C>A		CCDS32901.1	19p13.2	2013-12-17		2004-03-10	ENSG00000174667	ENSG00000174667		"""GPCR / Class A : Olfactory receptors"""	8380	protein-coding gene	gene with protein product		611538		OR7D4P			Standard	NM_001005191		Approved	hg105, OR19-B	uc002mla.2	Q8NG98	OTTHUMG00000179936	ENST00000308682.2:c.787G>T	19.37:g.9324727C>A	ENSP00000310488:p.Ala263Ser						p.A263S	NM_001005191	NP_001005191	Q8NG98	OR7D4_HUMAN			1	787	-			263			Extracellular (Potential).		A8CAH8|A8CAH9|A8CAI0|A8CAI1|B9EH79	Missense_Mutation	SNP	ENST00000308682.2	37	c.787G>T	CCDS32901.1	.	.	.	.	.	.	.	.	.	.	C	5.787	0.329600	0.10956	.	.	ENSG00000174667	ENST00000308682	T	0.00063	8.78	3.49	1.05	0.20165	GPCR, rhodopsin-like superfamily (1);	0.352426	0.24447	N	0.038446	T	0.00073	0.0002	N	0.04705	-0.18	0.09310	N	1	B	0.26672	0.156	B	0.26517	0.07	T	0.07558	-1.0766	10	0.39692	T	0.17	.	5.5982	0.17339	0.229:0.5482:0.2228:0.0	.	263	Q8NG98	OR7D4_HUMAN	S	263	ENSP00000310488:A263S	ENSP00000310488:A263S	A	-	1	0	OR7D4	9185727	0.000000	0.05858	0.182000	0.23118	0.252000	0.25951	-0.417000	0.07088	0.818000	0.34468	0.205000	0.17691	GCT		PASS	0.537	OR7D4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449004.1			54	35	54	35	---	---	---	---
ZNF846	162993	broad.mit.edu	37	19	9873983	9873983	+	Missense_Mutation	SNP	C	C	G			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr19:9873983C>G	ENST00000397902.2	-	3	530	c.117G>C	c.(115-117)gaG>gaC	p.E39D	ZNF846_ENST00000592859.1_Intron|ZNF846_ENST00000588267.1_5'UTR|ZNF846_ENST00000586293.1_Missense_Mutation_p.E39D	NM_001077624.1	NP_001071092.1	Q147U1	ZN846_HUMAN	zinc finger protein 846	39	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.E39D(1)		NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	22						TCTTGTAGTTCTCCAACATCA	0.418																																						uc002mmb.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(115-117)GAG>GAC		zinc finger protein 846							113.0	119.0	117.0					19																	9873983		2203	4300	6503	SO:0001583	missense	162993				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:9873983C>G	AK097652	CCDS42496.1	19p13.2	2013-01-08			ENSG00000196605	ENSG00000196605		"""Zinc fingers, C2H2-type"", ""-"""	27260	protein-coding gene	gene with protein product							Standard	NM_001077624		Approved		uc002mmb.1	Q147U1		ENST00000397902.2:c.117G>C	19.37:g.9873983C>G	ENSP00000380999:p.Glu39Asp					ZNF846_uc010xky.1_RNA|ZNF846_uc010xkz.1_RNA|ZNF846_uc010dww.2_Intron|ZNF846_uc002mmc.1_5'UTR	p.E39D	NM_001077624	NP_001071092	Q147U1	ZN846_HUMAN			3	648	-			39			KRAB.		A8K0H1|B3KUP1	Missense_Mutation	SNP	ENST00000397902.2	37	c.117G>C	CCDS42496.1	.	.	.	.	.	.	.	.	.	.	.	15.90	2.970867	0.53614	.	.	ENSG00000196605	ENST00000397902	T	0.03920	3.76	2.17	1.12	0.20585	Krueppel-associated box (4);	.	.	.	.	T	0.20170	0.0485	M	0.88640	2.97	0.21105	N	0.99979	D	0.71674	0.998	D	0.81914	0.995	T	0.04664	-1.0935	8	.	.	.	.	4.7449	0.13033	0.0:0.8152:0.0:0.1848	.	39	Q147U1	ZN846_HUMAN	D	39	ENSP00000380999:E39D	.	E	-	3	2	ZNF846	9734983	0.996000	0.38824	0.998000	0.56505	0.966000	0.64601	0.209000	0.17435	0.483000	0.27608	0.514000	0.50259	GAG		PASS	0.418	ZNF846-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450253.1	NM_001077624		98	64	98	64	---	---	---	---
S1PR2	9294	broad.mit.edu	37	19	10335161	10335161	+	Missense_Mutation	SNP	C	C	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr19:10335161C>A	ENST00000590320.1	-	2	531	c.421G>T	c.(421-423)Ggc>Tgc	p.G141C	CTD-2369P2.2_ENST00000317726.4_lincRNA	NM_004230.3	NP_004221.3	O95136	S1PR2_HUMAN	sphingosine-1-phosphate receptor 2	141					activation of MAPK activity (GO:0000187)|G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of excitatory postsynaptic membrane potential (GO:0090394)|positive regulation of cell proliferation (GO:0008284)|positive regulation of establishment of endothelial barrier (GO:1903142)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|G-protein coupled receptor binding (GO:0001664)|integrin binding (GO:0005178)|lipid binding (GO:0008289)|sphingosine-1-phosphate receptor activity (GO:0038036)	p.G141C(1)		central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	15						TTGTCGCTGCCATACAGCTTG	0.642																																					Pancreas(194;229 3020 15179 45747)	uc002mnl.2																			1	Substitution - Missense(1)		lung(1)	lung(1)|central_nervous_system(1)	2						c.(421-423)GGC>TGC		endothelial differentiation, sphingolipid							51.0	48.0	49.0					19																	10335161		2203	4300	6503	SO:0001583	missense	9294				activation of MAPK activity|positive regulation of cell proliferation	integral to membrane|plasma membrane	lipid binding|lysosphingolipid and lysophosphatidic acid receptor activity	g.chr19:10335161C>A	AF034780	CCDS12229.1	19q13	2013-03-13	2008-04-30	2008-04-30	ENSG00000267534	ENSG00000267534		"""GPCR / Class A : Lysophospholipid receptors : Sphingosine 1-phosphate"""	3169	protein-coding gene	gene with protein product		605111	"""endothelial differentiation, sphingolipid G-protein-coupled receptor, 5"""	EDG5		8087418, 8878560	Standard	NM_004230		Approved	Gpcr13, H218, AGR16	uc002mnl.2	O95136	OTTHUMG00000180399	ENST00000590320.1:c.421G>T	19.37:g.10335161C>A	ENSP00000466933:p.Gly141Cys						p.G141C	NM_004230	NP_004221	O95136	S1PR2_HUMAN			2	532	-			141			Cytoplasmic (By similarity).		Q86UN8	Missense_Mutation	SNP	ENST00000590320.1	37	c.421G>T	CCDS12229.1	.	.	.	.	.	.	.	.	.	.	C	17.28	3.349354	0.61183	.	.	ENSG00000175898	ENST00000317726	.	.	.	5.46	5.46	0.80206	GPCR, rhodopsin-like superfamily (1);	0.059475	0.64402	D	0.000003	T	0.70500	0.3231	M	0.68317	2.08	0.52099	D	0.999945	D	0.89917	1.0	D	0.76071	0.987	T	0.72297	-0.4335	9	0.59425	D	0.04	.	8.4627	0.32938	0.0:0.8338:0.0:0.1662	.	141	O95136	S1PR2_HUMAN	C	141	.	ENSP00000322049:G141C	G	-	1	0	S1PR2	10196161	0.341000	0.24801	1.000000	0.80357	0.822000	0.46500	0.905000	0.28504	2.557000	0.86248	0.586000	0.80456	GGC		PASS	0.642	S1PR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451194.1	NM_004230		31	21	31	21	---	---	---	---
ICAM3	3385	broad.mit.edu	37	19	10445845	10445845	+	Silent	SNP	G	G	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr19:10445845G>T	ENST00000160262.5	-	4	1042	c.834C>A	c.(832-834)gcC>gcA	p.A278A	ICAM3_ENST00000589261.1_Silent_p.A201A|RAVER1_ENST00000293677.6_5'Flank	NM_002162.3	NP_002153.2	P32942	ICAM3_HUMAN	intercellular adhesion molecule 3	278	Ig-like C2-type 3.				extracellular matrix organization (GO:0030198)|regulation of immune response (GO:0050776)|single organismal cell-cell adhesion (GO:0016337)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	integrin binding (GO:0005178)|receptor binding (GO:0005102)	p.A278A(1)		central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|upper_aerodigestive_tract(2)	13			OV - Ovarian serous cystadenocarcinoma(20;6.13e-09)|Epithelial(33;9.69e-06)|all cancers(31;2.05e-05)			CCGTGGCTGTGGCTGTGGCCG	0.657																																						uc002mob.2																			1	Substitution - coding silent(1)		lung(1)	upper_aerodigestive_tract(1)|ovary(1)|central_nervous_system(1)	3						c.(832-834)GCC>GCA		intercellular adhesion molecule 3 precursor							101.0	114.0	109.0					19																	10445845		2203	4298	6501	SO:0001819	synonymous_variant	3385				cell-cell adhesion|regulation of immune response	integral to plasma membrane	integrin binding	g.chr19:10445845G>T		CCDS12235.1	19p13.3-p13.2	2013-01-11				ENSG00000076662		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5346	protein-coding gene	gene with protein product		146631				1448174	Standard	NM_002162		Approved	CDW50, ICAM-R, CD50	uc002mob.2	P32942		ENST00000160262.5:c.834C>A	19.37:g.10445845G>T						RAVER1_uc002moa.2_5'Flank|ICAM3_uc010dxd.1_Silent_p.A201A|ICAM3_uc010xlf.1_3'UTR	p.A278A	NM_002162	NP_002153	P32942	ICAM3_HUMAN	OV - Ovarian serous cystadenocarcinoma(20;6.13e-09)|Epithelial(33;9.69e-06)|all cancers(31;2.05e-05)		4	889	-			278			Extracellular (Potential).|Ig-like C2-type 3.		Q6PD68	Silent	SNP	ENST00000160262.5	37	c.834C>A	CCDS12235.1																																																																																				PASS	0.657	ICAM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451234.1			42	37	42	37	---	---	---	---
ZNF439	90594	broad.mit.edu	37	19	11978459	11978459	+	Missense_Mutation	SNP	G	G	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr19:11978459G>A	ENST00000304030.2	+	3	775	c.575G>A	c.(574-576)gGa>gAa	p.G192E	ZNF439_ENST00000455282.1_Missense_Mutation_p.G56E|ZNF439_ENST00000592534.1_Intron	NM_152262.2	NP_689475.1	Q8NDP4	ZN439_HUMAN	zinc finger protein 439	192					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.G192E(1)		breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(7)|pancreas(1)|skin(2)	27						AAAGAATGTGGAAAAAACATT	0.388																																						uc002mss.2																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(574-576)GGA>GAA		zinc finger protein 439							133.0	132.0	132.0					19																	11978459		2203	4300	6503	SO:0001583	missense	90594				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:11978459G>A	AL833935	CCDS12268.1	19p13.13	2013-01-08			ENSG00000171291	ENSG00000171291		"""Zinc fingers, C2H2-type"", ""-"""	20873	protein-coding gene	gene with protein product							Standard	NM_152262		Approved	DKFZp571K0837	uc002mss.3	Q8NDP4	OTTHUMG00000156527	ENST00000304030.2:c.575G>A	19.37:g.11978459G>A	ENSP00000305077:p.Gly192Glu					ZNF439_uc002msr.2_Missense_Mutation_p.G56E	p.G192E	NM_152262	NP_689475	Q8NDP4	ZN439_HUMAN			3	703	+			192			C2H2-type 1.		Q8IYZ7|Q96SU1	Missense_Mutation	SNP	ENST00000304030.2	37	c.575G>A	CCDS12268.1	.	.	.	.	.	.	.	.	.	.	g	13.26	2.185022	0.38609	.	.	ENSG00000171291	ENST00000455282;ENST00000304030	T;T	0.20463	2.07;2.07	0.575	0.575	0.17374	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.23249	0.0562	L	0.39147	1.195	0.30413	N	0.77889	P	0.48694	0.914	P	0.51266	0.664	T	0.19614	-1.0300	9	0.62326	D	0.03	.	6.9918	0.24759	1.0E-4:0.0:0.9999:0.0	.	192	Q8NDP4	ZN439_HUMAN	E	56;192	ENSP00000395632:G56E;ENSP00000305077:G192E	ENSP00000305077:G192E	G	+	2	0	ZNF439	11839459	0.991000	0.36638	0.012000	0.15200	0.061000	0.15899	2.028000	0.41088	0.577000	0.29470	0.194000	0.17425	GGA		PASS	0.388	ZNF439-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344513.1			80	69	80	69	---	---	---	---
C19orf43	79002	broad.mit.edu	37	19	12848436	12848436	+	5'Flank	SNP	G	G	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr19:12848436G>T	ENST00000242784.4	-	0	0				C19orf43_ENST00000592273.1_5'Flank|ASNA1_ENST00000591090.1_Missense_Mutation_p.W39C|ASNA1_ENST00000357332.3_Missense_Mutation_p.W39C|C19orf43_ENST00000588213.1_5'Flank	NM_024038.2	NP_076943.1	Q9BQ61	CS043_HUMAN	chromosome 19 open reading frame 43									p.W39C(1)		endometrium(2)|large_intestine(2)	4						GCCTGAAGTGGATCTTCGTCG	0.627																																						uc002muv.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(115-117)TGG>TGT		arsA arsenite transporter, ATP-binding, homolog	Adenosine triphosphate(DB00171)						40.0	33.0	35.0					19																	12848436		2203	4300	6503	SO:0001631	upstream_gene_variant	439				response to arsenic-containing substance	endoplasmic reticulum|nucleolus|soluble fraction	arsenite-transporting ATPase activity|ATP binding|metal ion binding	g.chr19:12848436G>T	AK027588	CCDS12279.1	19p13.2	2011-11-24			ENSG00000123144	ENSG00000123144			28424	protein-coding gene	gene with protein product	"""functional spliceosome-associated protein 18"""					12477932	Standard	NM_024038		Approved	MGC2803, fSAP18	uc002muu.3	Q9BQ61			19.37:g.12848436G>T	Exception_encountered					C19orf43_uc002muu.2_5'Flank|ASNA1_uc002muw.2_Missense_Mutation_p.W39C	p.W39C	NM_004317	NP_004308	O43681	ASNA_HUMAN			1	131	+			39						Missense_Mutation	SNP	ENST00000242784.4	37	c.117G>T	CCDS12279.1	.	.	.	.	.	.	.	.	.	.	g	23.9	4.475576	0.84640	.	.	ENSG00000198356	ENST00000357332	T	0.42131	0.98	4.44	4.44	0.53790	.	0.000000	0.85682	D	0.000000	T	0.70798	0.3265	M	0.90369	3.11	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.78550	-0.2161	10	0.87932	D	0	-20.0159	16.4425	0.83906	0.0:0.0:1.0:0.0	.	39	O43681	ASNA_HUMAN	C	39	ENSP00000349887:W39C	ENSP00000349887:W39C	W	+	3	0	ASNA1	12709436	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	8.511000	0.90535	2.468000	0.83385	0.645000	0.84053	TGG		PASS	0.627	C19orf43-001	KNOWN	overlapping_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450856.1	NM_024038		12	16	12	16	---	---	---	---
PKN1	5585	broad.mit.edu	37	19	14574703	14574703	+	Missense_Mutation	SNP	G	G	T	rs56273055		TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr19:14574703G>T	ENST00000242783.6	+	11	1724	c.1559G>T	c.(1558-1560)cGg>cTg	p.R520L	PKN1_ENST00000342216.4_Missense_Mutation_p.R526L	NM_002741.3	NP_002732.3	Q16512	PKN1_HUMAN	protein kinase N1	520			R -> Q (in dbSNP:rs56273055). {ECO:0000269|PubMed:17344846}.		activation of JUN kinase activity (GO:0007257)|epithelial cell migration (GO:0010631)|histone H3-T11 phosphorylation (GO:0035407)|hyperosmotic response (GO:0006972)|protein phosphorylation (GO:0006468)|regulation of cell motility (GO:2000145)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)	cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|endosome (GO:0005768)|midbody (GO:0030496)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	androgen receptor binding (GO:0050681)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|GTP-Rho binding (GO:0017049)|histone binding (GO:0042393)|histone deacetylase binding (GO:0042826)|histone kinase activity (H3-T11 specific) (GO:0035402)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|protein kinase activity (GO:0004672)|protein kinase C activity (GO:0004697)|protein kinase C binding (GO:0005080)|protein serine/threonine kinase activity (GO:0004674)|Rac GTPase binding (GO:0048365)	p.R520L(1)		breast(3)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(4)|skin(2)|upper_aerodigestive_tract(1)	31						CGGCTGCTCCGGAGGCTCATC	0.667																																					NSCLC(185;2539 2965 10733 52867)	uc002myp.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|breast(2)|skin(2)|large_intestine(1)|central_nervous_system(1)	8						c.(1558-1560)CGG>CTG		protein kinase N1 isoform 2							26.0	31.0	29.0					19																	14574703		2195	4292	6487	SO:0001583	missense	5585				activation of JUN kinase activity|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription, DNA-dependent	endosome|nucleus|plasma membrane	androgen receptor binding|ATP binding|chromatin binding|GTP-Rho binding|histone binding|histone deacetylase binding|histone kinase activity (H3-T11 specific)|ligand-dependent nuclear receptor transcription coactivator activity|protein kinase C activity|protein kinase C binding|Rac GTPase binding	g.chr19:14574703G>T	S75546	CCDS42513.1, CCDS42514.1	19p13.12	2008-05-14	2004-07-01	2004-07-01	ENSG00000123143	ENSG00000123143			9405	protein-coding gene	gene with protein product		601032	"""protein kinase C-like 1"""	PRKCL1		9570957	Standard	NM_002741		Approved	DBK, PRK1, PKN, MGC46204, PAK1	uc002myq.3	Q16512	OTTHUMG00000039611	ENST00000242783.6:c.1559G>T	19.37:g.14574703G>T	ENSP00000242783:p.Arg520Leu					PKN1_uc002myq.2_Missense_Mutation_p.R526L	p.R520L	NM_002741	NP_002732	Q16512	PKN1_HUMAN			11	1727	+			520					A8K7W5|B2R9R4|B3KVN3|Q15143|Q504U4|Q8IUV5|Q9UD44	Missense_Mutation	SNP	ENST00000242783.6	37	c.1559G>T	CCDS42513.1	.	.	.	.	.	.	.	.	.	.	G	18.04	3.535197	0.64972	.	.	ENSG00000123143	ENST00000242783;ENST00000342216	T;T	0.38722	1.12;1.12	3.9	3.9	0.45041	.	0.000000	0.64402	U	0.000014	T	0.38453	0.1041	L	0.56280	1.765	0.18873	N	0.999987	P;P	0.47106	0.89;0.825	B;B	0.40101	0.319;0.169	T	0.42224	-0.9464	10	0.56958	D	0.05	-12.6792	13.4123	0.60950	0.0:0.0:1.0:0.0	.	526;520	Q16512-2;Q16512	.;PKN1_HUMAN	L	520;526	ENSP00000242783:R520L;ENSP00000343325:R526L	ENSP00000242783:R520L	R	+	2	0	PKN1	14435703	0.533000	0.26354	0.518000	0.27811	0.643000	0.38383	3.286000	0.51724	2.015000	0.59207	0.484000	0.47621	CGG		PASS	0.667	PKN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095510.1	NM_002741, NM_213560		19	21	19	21	---	---	---	---
CYP4F2	8529	broad.mit.edu	37	19	15997053	15997053	+	Splice_Site	SNP	C	C	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr19:15997053C>T	ENST00000221700.6	-	8	1079	c.984G>A	c.(982-984)gaG>gaA	p.E328E	CYP4F2_ENST00000011989.7_Intron	NM_001082.3	NP_001073.3			cytochrome P450, family 4, subfamily F, polypeptide 2									p.E328E(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						GGCCCTCACCCTCAAACATAA	0.582																																						uc002nbs.1																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|skin(1)	2						c.(982-984)GAG>GAA		cytochrome P450, family 4, subfamily F,							203.0	209.0	207.0					19																	15997053		2203	4300	6503	SO:0001630	splice_region_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.chr19:15997053C>T	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.985+1G>A	19.37:g.15997053C>T						CYP4F2_uc010xot.1_Silent_p.E179E|CYP4F2_uc010xou.1_Intron	p.E328E	NM_001082	NP_001073	P78329	CP4F2_HUMAN			8	1034	-			328				Heme (covalent; via 1 link) (By similarity).		Silent	SNP	ENST00000221700.6	37	c.984G>A	CCDS12336.1																																																																																				PASS	0.582	CYP4F2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460372.3	NM_001082	Silent	162	173	162	173	---	---	---	---
OR10H4	126541	broad.mit.edu	37	19	16060490	16060490	+	Missense_Mutation	SNP	G	G	C			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr19:16060490G>C	ENST00000322107.1	+	1	673	c.673G>C	c.(673-675)Gct>Cct	p.A225P		NM_001004465.1	NP_001004465.1	Q8NGA5	O10H4_HUMAN	olfactory receptor, family 10, subfamily H, member 4	225						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.A225P(1)		breast(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|pancreas(1)|urinary_tract(1)	17						CTTCATTGTGGCTGCCATCTT	0.493																																						uc010xov.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|breast(1)	2						c.(673-675)GCT>CCT		olfactory receptor, family 10, subfamily H,							238.0	217.0	224.0					19																	16060490		2203	4300	6503	SO:0001583	missense	126541				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr19:16060490G>C	AC011517	CCDS32941.1	19p13.12	2013-09-24			ENSG00000176231	ENSG00000176231		"""GPCR / Class A : Olfactory receptors"""	15388	protein-coding gene	gene with protein product							Standard	NM_001004465		Approved		uc010xov.2	Q8NGA5	OTTHUMG00000182268	ENST00000322107.1:c.673G>C	19.37:g.16060490G>C	ENSP00000318834:p.Ala225Pro						p.A225P	NM_001004465	NP_001004465	Q8NGA5	O10H4_HUMAN			1	673	+			225			Cytoplasmic (Potential).		Q6IFJ2|Q96R57	Missense_Mutation	SNP	ENST00000322107.1	37	c.673G>C	CCDS32941.1	.	.	.	.	.	.	.	.	.	.	g	5.340	0.248006	0.10130	.	.	ENSG00000176231	ENST00000322107	T	0.38077	1.16	1.55	1.55	0.23275	GPCR, rhodopsin-like superfamily (1);	0.178805	0.26400	U	0.024595	T	0.32675	0.0837	L	0.56280	1.765	0.09310	N	0.999999	B	0.20550	0.046	B	0.33750	0.169	T	0.33701	-0.9858	10	0.62326	D	0.03	.	5.0174	0.14343	0.0:0.0:0.6492:0.3508	.	225	Q8NGA5	O10H4_HUMAN	P	225	ENSP00000318834:A225P	ENSP00000318834:A225P	A	+	1	0	OR10H4	15921490	0.000000	0.05858	0.818000	0.32626	0.326000	0.28443	-1.271000	0.02828	0.839000	0.34971	0.484000	0.47621	GCT		PASS	0.493	OR10H4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460311.1			85	67	85	67	---	---	---	---
USHBP1	83878	broad.mit.edu	37	19	17370465	17370465	+	Missense_Mutation	SNP	G	G	C			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr19:17370465G>C	ENST00000252597.3	-	6	1018	c.845C>G	c.(844-846)cCc>cGc	p.P282R	USHBP1_ENST00000598570.1_5'Flank|USHBP1_ENST00000431146.2_Missense_Mutation_p.P218R	NM_031941.3	NP_114147.2			Usher syndrome 1C binding protein 1									p.P282R(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(10)|liver(1)|lung(12)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	44						GGGCTGGTTGGGAAGAGACCC	0.572																																						uc002nfs.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(844-846)CCC>CGC		Usher syndrome 1C binding protein 1							114.0	124.0	121.0					19																	17370465		2203	4300	6503	SO:0001583	missense	83878						PDZ domain binding	g.chr19:17370465G>C	AK096028	CCDS12353.1	19p13.11	2013-06-10			ENSG00000130307	ENSG00000130307			24058	protein-coding gene	gene with protein product		611810				11311560	Standard	XM_005260093		Approved	MCC2, AIEBP, FLJ38709	uc002nfs.1	Q8N6Y0	OTTHUMG00000182730	ENST00000252597.3:c.845C>G	19.37:g.17370465G>C	ENSP00000252597:p.Pro282Arg					USHBP1_uc002nfr.1_5'Flank|USHBP1_uc002nft.1_RNA|USHBP1_uc010xpk.1_Missense_Mutation_p.P218R|USHBP1_uc010eam.1_Missense_Mutation_p.P210R	p.P282R	NM_031941	NP_114147	Q8N6Y0	USBP1_HUMAN			6	958	-			282						Missense_Mutation	SNP	ENST00000252597.3	37	c.845C>G	CCDS12353.1	.	.	.	.	.	.	.	.	.	.	G	13.44	2.239163	0.39598	.	.	ENSG00000130307	ENST00000252597;ENST00000431146;ENST00000324554	T;T	0.18016	2.24;2.24	4.91	1.44	0.22558	.	0.211893	0.26680	N	0.023053	T	0.09113	0.0225	L	0.29908	0.895	0.09310	N	1	B;B;B	0.12013	0.005;0.005;0.005	B;B;B	0.10450	0.005;0.005;0.005	T	0.32903	-0.9889	10	0.16896	T	0.51	-1.5965	3.9988	0.09570	0.0906:0.1602:0.5836:0.1656	.	218;282;282	B4DUE8;Q8N8Y1;Q8N6Y0	.;.;USBP1_HUMAN	R	282;218;282	ENSP00000252597:P282R;ENSP00000407902:P218R	ENSP00000252597:P282R	P	-	2	0	USHBP1	17231465	0.001000	0.12720	0.001000	0.08648	0.107000	0.19398	-0.156000	0.10100	0.296000	0.22592	0.655000	0.94253	CCC		PASS	0.572	USHBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463328.1	NM_031941		142	86	142	86	---	---	---	---
ANO8	57719	broad.mit.edu	37	19	17438608	17438608	+	Missense_Mutation	SNP	G	G	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr19:17438608G>T	ENST00000159087.4	-	14	2466	c.2308C>A	c.(2308-2310)Ctg>Atg	p.L770M		NM_020959.2	NP_066010.1	Q9HCE9	ANO8_HUMAN	anoctamin 8	770					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.L770M(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						AGGGCGCACAGCGCCGCCAGG	0.652																																						uc002ngf.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)	3						c.(2308-2310)CTG>ATG		anoctamin 8							107.0	98.0	101.0					19																	17438608		2203	4300	6503	SO:0001583	missense	57719					chloride channel complex	chloride channel activity	g.chr19:17438608G>T	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.2308C>A	19.37:g.17438608G>T	ENSP00000159087:p.Leu770Met					ANO8_uc010eap.2_RNA	p.L770M	NM_020959	NP_066010	Q9HCE9	ANO8_HUMAN			14	2467	-			770			Helical; (Potential).		A6NIJ0	Missense_Mutation	SNP	ENST00000159087.4	37	c.2308C>A	CCDS32949.1	.	.	.	.	.	.	.	.	.	.	G	12.17	1.858019	0.32791	.	.	ENSG00000074855	ENST00000159087	T	0.68331	-0.32	5.08	3.97	0.46021	.	0.163094	0.46758	D	0.000270	T	0.56411	0.1983	L	0.51853	1.615	0.31175	N	0.702779	B	0.29612	0.251	B	0.31547	0.132	T	0.57271	-0.7840	10	0.28530	T	0.3	.	7.8358	0.29369	0.0:0.1758:0.6427:0.1816	.	770	Q9HCE9	ANO8_HUMAN	M	770	ENSP00000159087:L770M	ENSP00000159087:L770M	L	-	1	2	ANO8	17299608	0.998000	0.40836	0.996000	0.52242	0.653000	0.38743	2.423000	0.44705	2.364000	0.80123	0.436000	0.28706	CTG		PASS	0.652	ANO8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462943.1	XM_050644		46	45	46	45	---	---	---	---
PGPEP1	54858	broad.mit.edu	37	19	18474268	18474268	+	Missense_Mutation	SNP	G	G	T	rs142770605		TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr19:18474268G>T	ENST00000269919.6	+	5	600	c.505G>T	c.(505-507)Gtg>Ttg	p.V169L	PGPEP1_ENST00000252813.5_Missense_Mutation_p.V92L|PGPEP1_ENST00000597431.2_Missense_Mutation_p.R91L|PGPEP1_ENST00000604499.2_Silent_p.T155T	NM_017712.2	NP_060182.1	Q9NXJ5	PGPI_HUMAN	pyroglutamyl-peptidase I	169						cytosol (GO:0005829)	cysteine-type peptidase activity (GO:0008234)|pyroglutamyl-peptidase activity (GO:0016920)	p.V169L(1)									CTTCGTCCACGTGCCCCCACT	0.582																																						uc002nis.1																			1	Substitution - Missense(1)		lung(1)		0						c.(505-507)GTG>TTG		pyroglutamyl-peptidase I							79.0	63.0	69.0					19																	18474268		2203	4300	6503	SO:0001583	missense	54858						cysteine-type peptidase activity	g.chr19:18474268G>T	AJ278828	CCDS12375.1, CCDS74314.1	19p13.11	2012-07-25				ENSG00000130517	3.4.19.3		13568	protein-coding gene	gene with protein product	"""pyroglutamyl aminopeptidase"""	610694					Standard	XM_006722783		Approved	PGP-I, Pcp, PGP, PGPI	uc002nis.1	Q9NXJ5		ENST00000269919.6:c.505G>T	19.37:g.18474268G>T	ENSP00000269919:p.Val169Leu					PGPEP1_uc002nir.1_RNA|PGPEP1_uc002nit.1_Missense_Mutation_p.V92L|PGPEP1_uc010xqg.1_Missense_Mutation_p.V92L	p.V169L	NM_017712	NP_060182	Q9NXJ5	PGPI_HUMAN			5	589	+			169					A8K1Q3|Q8IVT1	Missense_Mutation	SNP	ENST00000269919.6	37	c.505G>T	CCDS12375.1	.	.	.	.	.	.	.	.	.	.	G	26.2	4.713955	0.89112	.	.	ENSG00000130517	ENST00000269919;ENST00000252813	T;T	0.41065	1.01;1.01	4.95	4.95	0.65309	.	0.000000	0.85682	D	0.000000	T	0.69124	0.3076	M	0.87456	2.885	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.75662	-0.3240	10	0.72032	D	0.01	-32.626	15.688	0.77426	0.0:0.0:1.0:0.0	.	169	Q9NXJ5	PGPI_HUMAN	L	169;92	ENSP00000269919:V169L;ENSP00000252813:V92L	ENSP00000252813:V92L	V	+	1	0	PGPEP1	18335268	1.000000	0.71417	0.982000	0.44146	0.553000	0.35397	9.429000	0.97481	2.306000	0.77630	0.491000	0.48974	GTG		PASS	0.582	PGPEP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466327.3	NM_017712		16	15	16	15	---	---	---	---
GATAD2A	54815	broad.mit.edu	37	19	19613322	19613322	+	Silent	SNP	G	G	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr19:19613322G>T	ENST00000360315.3	+	11	2070	c.1758G>T	c.(1756-1758)acG>acT	p.T586T	GATAD2A_ENST00000429563.2_Silent_p.T389T|GATAD2A_ENST00000252577.5_Silent_p.T561T|GATAD2A_ENST00000404158.1_Silent_p.T587T|GATAD2A_ENST00000537887.1_Silent_p.T215T|GATAD2A_ENST00000358713.3_Silent_p.T586T	NM_017660.3	NP_060130.3	Q86YP4	P66A_HUMAN	GATA zinc finger domain containing 2A	586					anterior neuropore closure (GO:0021506)|blood vessel development (GO:0001568)|DNA methylation (GO:0006306)|embryonic body morphogenesis (GO:0010172)|in utero embryonic development (GO:0001701)|negative regulation of transcription, DNA-templated (GO:0045892)|neural fold formation (GO:0001842)|programmed cell death (GO:0012501)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|NuRD complex (GO:0016581)	protein binding, bridging (GO:0030674)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)	p.T443T(1)|p.T586T(1)		endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|urinary_tract(1)	13						GGAAGAAGACGCCCCTCAGCA	0.637																																						uc010xqt.1																			2	Substitution - coding silent(2)		lung(2)		0						c.(1756-1758)ACG>ACT		GATA zinc finger domain containing 2A							46.0	53.0	51.0					19																	19613322		2203	4300	6503	SO:0001819	synonymous_variant	54815				DNA methylation|negative regulation of transcription, DNA-dependent	nuclear speck|NuRD complex	protein binding, bridging|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:19613322G>T	AL390164	CCDS12402.2	19p13.11	2013-01-25			ENSG00000167491	ENSG00000167491		"""GATA zinc finger domain containing"""	29989	protein-coding gene	gene with protein product	"""p66 alpha"""	614997				12183469	Standard	NM_017660		Approved	p66alpha	uc010xqt.2	Q86YP4	OTTHUMG00000152541	ENST00000360315.3:c.1758G>T	19.37:g.19613322G>T						GATAD2A_uc010xqu.1_Silent_p.T215T|GATAD2A_uc010xqv.1_Silent_p.T606T|GATAD2A_uc010xqw.1_Silent_p.T389T	p.T586T	NM_017660	NP_060130	Q86YP4	P66A_HUMAN			11	2070	+			586					B5MC40|Q7L3J2|Q96F28|Q9NPU2|Q9NXS1	Silent	SNP	ENST00000360315.3	37	c.1758G>T	CCDS12402.2	.	.	.	.	.	.	.	.	.	.	G	0.033	-1.324219	0.01309	.	.	ENSG00000167491	ENST00000418032	.	.	.	5.32	-10.6	0.00265	.	.	.	.	.	T	0.32436	0.0829	.	.	.	0.36481	D	0.867839	.	.	.	.	.	.	T	0.33828	-0.9853	4	.	.	.	-16.1823	3.0599	0.06196	0.1422:0.0802:0.4565:0.3211	.	.	.	.	S	188	.	.	A	+	1	0	GATAD2A	19474322	0.003000	0.15002	0.002000	0.10522	0.029000	0.11900	-0.417000	0.07088	-1.971000	0.01002	-1.893000	0.00533	GCC		PASS	0.637	GATAD2A-202	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000326671.4	NM_017660		44	49	44	49	---	---	---	---
ATP13A1	57130	broad.mit.edu	37	19	19758456	19758456	+	Missense_Mutation	SNP	C	C	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr19:19758456C>A	ENST00000357324.6	-	20	2771	c.2745G>T	c.(2743-2745)aaG>aaT	p.K915N	ATP13A1_ENST00000291503.5_Missense_Mutation_p.K797N	NM_020410.2	NP_065143.2	Q9HD20	AT131_HUMAN	ATPase type 13A1	915						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.K915N(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						CCGACCGCTGCTTGGCTGTCC	0.692																																					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.(2743-2745)AAG>AAT		ATPase type 13A1							33.0	33.0	33.0					19																	19758456		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.chr19:19758456C>A	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.2745G>T	19.37:g.19758456C>A	ENSP00000349877:p.Lys915Asn					ATP13A1_uc002nne.2_Missense_Mutation_p.K55N|ATP13A1_uc002nnf.3_Missense_Mutation_p.K283N|ATP13A1_uc002nng.2_Missense_Mutation_p.K797N	p.K915N	NM_020410	NP_065143	Q9HD20	AT131_HUMAN			20	2773	-			915			Cytoplasmic (Potential).		B3KPJ2|B3KTA7|Q6NT90|Q6ZMG7|Q9H6C6	Missense_Mutation	SNP	ENST00000357324.6	37	c.2745G>T	CCDS32970.2	.	.	.	.	.	.	.	.	.	.	C	9.816	1.184349	0.21870	.	.	ENSG00000105726	ENST00000291503;ENST00000357324	D;D	0.82167	-1.58;-1.58	5.26	3.12	0.35913	.	0.856376	0.10128	N	0.712485	T	0.69584	0.3127	N	0.14661	0.345	0.35914	D	0.83129	B;B	0.20261	0.043;0.003	B;B	0.25759	0.063;0.022	T	0.60637	-0.7224	10	0.21540	T	0.41	-17.8808	8.8713	0.35318	0.0:0.813:0.0:0.187	.	915;797	Q9HD20;Q9HD20-2	AT131_HUMAN;.	N	797;915	ENSP00000291503:K797N;ENSP00000349877:K915N	ENSP00000291503:K797N	K	-	3	2	ATP13A1	19619456	0.995000	0.38212	0.836000	0.33094	0.554000	0.35429	1.143000	0.31553	0.585000	0.29608	0.655000	0.94253	AAG		PASS	0.692	ATP13A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329005.1	NM_020410		10	16	10	16	---	---	---	---
ZNF208	7757	broad.mit.edu	37	19	22154164	22154164	+	Silent	SNP	G	G	T	rs370989342		TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr19:22154164G>T	ENST00000397126.4	-	4	3820	c.3672C>A	c.(3670-3672)ccC>ccA	p.P1224P	ZNF208_ENST00000599916.1_Intron|ZNF208_ENST00000601773.1_Intron	NM_007153.3	NP_009084.2	O43345	ZN208_HUMAN	zinc finger protein 208	1224					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)	p.P1096P(2)|p.P1224P(1)		breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	113		all_lung(12;0.0961)|Lung NSC(12;0.103)				CACATTTGTAGGGTTTCTCTC	0.383																																						uc002nqp.2																			3	Substitution - coding silent(3)		lung(3)	ovary(5)|skin(2)	7						c.(3286-3288)CCC>CCA		zinc finger protein 208							43.0	47.0	46.0					19																	22154164		2116	4245	6361	SO:0001819	synonymous_variant	7757							g.chr19:22154164G>T	BC038199	CCDS54240.1	19p12	2013-01-08				ENSG00000160321		"""Zinc fingers, C2H2-type"", ""-"""	12999	protein-coding gene	gene with protein product	"""zinc finger protein 95"""	603977				9724325	Standard	NM_007153		Approved	PMIDP, ZNF95	uc021urr.1	O43345		ENST00000397126.4:c.3672C>A	19.37:g.22154164G>T						ZNF208_uc002nqo.1_Intron	p.P1096P	NM_007153	NP_009084					6	3437	-		all_lung(12;0.0961)|Lung NSC(12;0.103)							Silent	SNP	ENST00000397126.4	37	c.3288C>A	CCDS54240.1																																																																																				PASS	0.383	ZNF208-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464302.1	NM_007153		21	31	21	31	---	---	---	---
ZNF676	163223	broad.mit.edu	37	19	22363556	22363556	+	Silent	SNP	G	G	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr19:22363556G>T	ENST00000397121.2	-	3	1280	c.963C>A	c.(961-963)tcC>tcA	p.S321S		NM_001001411.2	NP_001001411.2	Q8N7Q3	ZN676_HUMAN	zinc finger protein 676	321					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.S321S(1)		NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(49)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	67		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.114)				TAAGGCTTGAGGACCAGCTGA	0.428																																						uc002nqs.1																			1	Substitution - coding silent(1)		lung(1)		0						c.(961-963)TCC>TCA		zinc finger protein 676							60.0	62.0	61.0					19																	22363556		2097	4233	6330	SO:0001819	synonymous_variant	163223				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:22363556G>T	AK097798	CCDS42539.1	19p12	2013-01-08				ENSG00000196109		"""Zinc fingers, C2H2-type"""	20429	protein-coding gene	gene with protein product							Standard	NM_001001411		Approved		uc002nqs.1	Q8N7Q3		ENST00000397121.2:c.963C>A	19.37:g.22363556G>T							p.S321S	NM_001001411	NP_001001411	Q8N7Q3	ZN676_HUMAN			3	1281	-		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.114)	321			C2H2-type 6.		A8MVX5	Silent	SNP	ENST00000397121.2	37	c.963C>A	CCDS42539.1																																																																																				PASS	0.428	ZNF676-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464392.1	NM_001001411		37	79	37	79	---	---	---	---
ZNF676	163223	broad.mit.edu	37	19	22375821	22375821	+	Missense_Mutation	SNP	G	G	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr19:22375821G>T	ENST00000397121.2	-	2	444	c.127C>A	c.(127-129)Cca>Aca	p.P43T		NM_001001411.2	NP_001001411.2	Q8N7Q3	ZN676_HUMAN	zinc finger protein 676	43	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.P43T(2)		NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(49)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	67		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.114)				CACCTACCTGGGGGTTCTTCC	0.433																																						uc002nqs.1																			2	Substitution - Missense(2)		lung(2)		0						c.(127-129)CCA>ACA		zinc finger protein 676							87.0	102.0	97.0					19																	22375821		1510	2709	4219	SO:0001583	missense	163223				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:22375821G>T	AK097798	CCDS42539.1	19p12	2013-01-08				ENSG00000196109		"""Zinc fingers, C2H2-type"""	20429	protein-coding gene	gene with protein product							Standard	NM_001001411		Approved		uc002nqs.1	Q8N7Q3		ENST00000397121.2:c.127C>A	19.37:g.22375821G>T	ENSP00000380310:p.Pro43Thr						p.P43T	NM_001001411	NP_001001411	Q8N7Q3	ZN676_HUMAN			2	445	-		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.114)	43			KRAB.		A8MVX5	Missense_Mutation	SNP	ENST00000397121.2	37	c.127C>A	CCDS42539.1	.	.	.	.	.	.	.	.	.	.	.	3.955	-0.011492	0.07727	.	.	ENSG00000196109	ENST00000397121	T	0.07800	3.16	0.784	0.784	0.18578	Krueppel-associated box (1);	.	.	.	.	T	0.25382	0.0617	M	0.89214	3.015	0.09310	N	1	D	0.64830	0.994	P	0.62885	0.908	T	0.05971	-1.0853	9	0.52906	T	0.07	.	4.7436	0.13026	0.0:0.0:1.0:0.0	.	43	Q8N7Q3	ZN676_HUMAN	T	43	ENSP00000380310:P43T	ENSP00000380310:P43T	P	-	1	0	ZNF676	22167661	0.002000	0.14202	0.236000	0.24074	0.239000	0.25481	-0.088000	0.11198	0.181000	0.19994	0.184000	0.17185	CCA		PASS	0.433	ZNF676-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464392.1	NM_001001411		40	49	40	49	---	---	---	---
URI1	8725	broad.mit.edu	37	19	30505793	30505793	+	Splice_Site	SNP	G	G	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr19:30505793G>T	ENST00000542441.2	+	11	1722		c.e11-1		URI1_ENST00000312051.6_Splice_Site|URI1_ENST00000392271.1_Splice_Site|URI1_ENST00000360605.4_Intron			O94763	RMP_HUMAN	URI1, prefoldin-like chaperone						cellular response to growth factor stimulus (GO:0071363)|cellular response to steroid hormone stimulus (GO:0071383)|negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)|negative regulation of phosphatase activity (GO:0010923)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|protein folding (GO:0006457)|regulation of cell growth (GO:0001558)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to virus (GO:0009615)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|DNA-directed RNA polymerase II, core complex (GO:0005665)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|prefoldin complex (GO:0016272)	chromatin binding (GO:0003682)|protein phosphatase inhibitor activity (GO:0004864)|RNA polymerase II transcription corepressor activity (GO:0001106)	p.?(1)									TTGTTTTCTAGGCTTTTTCTG	0.368																																						uc002nsr.2																			1	Unknown(1)		lung(1)	ovary(1)|kidney(1)	2						c.e11-1		RPB5-mediating protein isoform a							94.0	102.0	99.0					19																	30505793		2203	4299	6502	SO:0001630	splice_region_variant	8725				protein folding|regulation of transcription from RNA polymerase II promoter|response to virus	DNA-directed RNA polymerase II, core complex|prefoldin complex	transcription corepressor activity|unfolded protein binding	g.chr19:30505793G>T	AF091095	CCDS12420.1, CCDS58658.1	19q12	2012-04-17	2011-11-21	2011-11-21	ENSG00000105176	ENSG00000105176		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	13236	protein-coding gene	gene with protein product	"""unconventional prefoldin RPB5 interactor"", ""RPB5-mediating protein"", ""protein phosphatase 1, regulatory subunit 19"""	603494	"""chromosome 19 open reading frame 2"""	C19orf2		9878255, 9819440	Standard	NM_003796		Approved	RMP, NNX3, FLJ10575, URI, PPP1R19	uc002nsr.3	O94763		ENST00000542441.2:c.1426-1G>T	19.37:g.30505793G>T						C19orf2_uc002nsq.2_Intron|C19orf2_uc002nss.2_Splice_Site_p.A436_splice|C19orf2_uc002nst.2_Splice_Site_p.A400_splice	p.A476_splice	NM_003796	NP_003787	O94763	RMP_HUMAN	STAD - Stomach adenocarcinoma(5;5.36e-06)|Lung(7;0.0144)|LUAD - Lung adenocarcinoma(5;0.115)	STAD - Stomach adenocarcinoma(1328;0.18)	11	1456	+	Ovarian(5;0.000902)|Breast(6;0.0203)|Esophageal squamous(110;0.195)	Hepatocellular(1079;0.137)|Renal(1328;0.228)						A8K805|H7BY42|Q8TC23|Q9UNU3	Splice_Site	SNP	ENST00000542441.2	37	c.1426_splice	CCDS12420.1	.	.	.	.	.	.	.	.	.	.	G	14.63	2.593641	0.46214	.	.	ENSG00000105176	ENST00000392271;ENST00000542441;ENST00000312051	.	.	.	5.9	5.9	0.94986	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.2768	0.98488	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	C19orf2	35197633	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	8.978000	0.93450	2.808000	0.96608	0.650000	0.86243	.		PASS	0.368	URI1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000439756.1	NM_134447	Intron	61	143	61	143	---	---	---	---
ZNF536	9745	broad.mit.edu	37	19	30936088	30936088	+	Missense_Mutation	SNP	A	A	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr19:30936088A>T	ENST00000355537.3	+	2	1766	c.1619A>T	c.(1618-1620)aAa>aTa	p.K540I		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536	540					negative regulation of neuron differentiation (GO:0045665)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|retinoic acid-responsive element binding (GO:0044323)	p.K540I(1)		NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					TTCTTGTCTAAAGAGCATCCG	0.587																																						uc002nsu.1																			1	Substitution - Missense(1)		lung(1)	ovary(7)|large_intestine(2)|skin(2)	11						c.(1618-1620)AAA>ATA		zinc finger protein 536							65.0	71.0	69.0					19																	30936088		2203	4300	6503	SO:0001583	missense	9745				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding	g.chr19:30936088A>T		CCDS32984.1	19q13.11	2013-01-08				ENSG00000198597		"""Zinc fingers, C2H2-type"""	29025	protein-coding gene	gene with protein product						9205841	Standard	XM_005259445		Approved	KIAA0390	uc002nsu.1	O15090		ENST00000355537.3:c.1619A>T	19.37:g.30936088A>T	ENSP00000347730:p.Lys540Ile					ZNF536_uc010edd.1_Missense_Mutation_p.K540I	p.K540I	NM_014717	NP_055532	O15090	ZN536_HUMAN			2	1757	+	Esophageal squamous(110;0.0834)		540					A2RU18	Missense_Mutation	SNP	ENST00000355537.3	37	c.1619A>T	CCDS32984.1	.	.	.	.	.	.	.	.	.	.	A	13.03	2.115163	0.37339	.	.	ENSG00000198597	ENST00000355537	T	0.46819	0.86	5.53	5.53	0.82687	.	0.000000	0.85682	D	0.000000	T	0.63651	0.2529	L	0.50333	1.59	0.47949	D	0.999554	D;D	0.76494	0.999;0.999	D;D	0.78314	0.991;0.991	T	0.65738	-0.6095	10	0.62326	D	0.03	-14.5178	15.6549	0.77126	1.0:0.0:0.0:0.0	.	540;540	A7E228;O15090	.;ZN536_HUMAN	I	540	ENSP00000347730:K540I	ENSP00000347730:K540I	K	+	2	0	ZNF536	35627928	1.000000	0.71417	1.000000	0.80357	0.823000	0.46562	7.270000	0.78493	2.087000	0.62958	0.533000	0.62120	AAA		PASS	0.587	ZNF536-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459667.2	NM_014717		55	108	55	108	---	---	---	---
DPY19L3	147991	broad.mit.edu	37	19	32955672	32955672	+	Silent	SNP	G	G	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr19:32955672G>T	ENST00000342179.5	+	15	1811	c.1596G>T	c.(1594-1596)ctG>ctT	p.L532L	DPY19L3_ENST00000586987.1_Silent_p.L532L|DPY19L3_ENST00000590651.1_3'UTR|DPY19L3_ENST00000392250.2_Silent_p.L532L	NM_207325.2	NP_997208.2	Q6ZPD9	D19L3_HUMAN	dpy-19-like 3 (C. elegans)	532						integral component of membrane (GO:0016021)	transferase activity, transferring glycosyl groups (GO:0016757)	p.L532L(1)		breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(17)|ovary(4)|pancreas(1)	32	Esophageal squamous(110;0.162)					TATTAATACTGCTGTATCTAT	0.259																																						uc002ntg.2																			1	Substitution - coding silent(1)	p.L532V(1)	lung(1)	ovary(4)	4						c.(1594-1596)CTG>CTT		dpy-19-like 3							117.0	110.0	112.0					19																	32955672		2200	4299	6499	SO:0001819	synonymous_variant	147991					integral to membrane		g.chr19:32955672G>T		CCDS12422.1	19q13.11	2008-02-05				ENSG00000178904			27120	protein-coding gene	gene with protein product		613894					Standard	NM_207325		Approved		uc002ntg.3	Q6ZPD9		ENST00000342179.5:c.1596G>T	19.37:g.32955672G>T						DPY19L3_uc002nth.1_Silent_p.L532L|DPY19L3_uc002nti.1_RNA	p.L532L	NM_207325	NP_997208	Q6ZPD9	D19L3_HUMAN			15	1772	+	Esophageal squamous(110;0.162)		532			Helical; (Potential).		Q68DC7|Q6ZTB7|Q6ZTS2	Silent	SNP	ENST00000342179.5	37	c.1596G>T	CCDS12422.1																																																																																				PASS	0.259	DPY19L3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450311.1	NM_207325		39	77	39	77	---	---	---	---
RGS9BP	388531	broad.mit.edu	37	19	33167781	33167781	+	Silent	SNP	G	G	T	rs567002714		TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr19:33167781G>T	ENST00000334176.3	+	1	1469	c.612G>T	c.(610-612)ggG>ggT	p.G204G	ANKRD27_ENST00000306065.4_5'Flank|ANKRD27_ENST00000587352.1_5'Flank	NM_207391.2	NP_997274.2	Q6ZS82	R9BP_HUMAN	regulator of G protein signaling 9 binding protein	204					detection of light stimulus involved in visual perception (GO:0050908)|negative regulation of signal transduction (GO:0009968)|phototransduction, visible light (GO:0007603)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|rhodopsin mediated signaling pathway (GO:0016056)	integral component of membrane (GO:0016021)		p.G204G(1)		central_nervous_system(1)|lung(2)	3	Esophageal squamous(110;0.137)					AGCGCGGGGGGGGTTGCGACC	0.741																																						uc002ntp.1																			1	Substitution - coding silent(1)		lung(1)	central_nervous_system(1)	1						c.(610-612)GGG>GGT		RGS9 anchor protein							6.0	8.0	8.0					19																	33167781		1881	3744	5625	SO:0001819	synonymous_variant	388531				negative regulation of signal transduction	integral to membrane		g.chr19:33167781G>T	AW302149	CCDS12424.1	19q13.11	2008-02-05	2007-08-14			ENSG00000186326			30304	protein-coding gene	gene with protein product		607814	"""regulator of G protein signalling 9 binding protein"""			12119397, 8889548	Standard	NM_207391		Approved	FLJ45744, PERRS, R9AP, RGS9	uc002ntp.1	Q6ZS82		ENST00000334176.3:c.612G>T	19.37:g.33167781G>T						ANKRD27_uc002ntn.1_5'Flank|ANKRD27_uc002nto.1_5'Flank	p.G204G	NM_207391	NP_997274	Q6ZS82	R9BP_HUMAN			1	1469	+	Esophageal squamous(110;0.137)		204			Cytoplasmic (Potential).		Q6ZVJ6	Silent	SNP	ENST00000334176.3	37	c.612G>T	CCDS12424.1																																																																																				PASS	0.741	RGS9BP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450337.1	NM_207391		6	4	6	4	---	---	---	---
RHPN2	85415	broad.mit.edu	37	19	33490526	33490526	+	Silent	SNP	G	G	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr19:33490526G>A	ENST00000254260.3	-	10	1226	c.1191C>T	c.(1189-1191)gcC>gcT	p.A397A	RHPN2_ENST00000400226.4_Silent_p.A246A	NM_033103.4	NP_149094.3	Q8IUC4	RHPN2_HUMAN	rhophilin, Rho GTPase binding protein 2	397	BRO1. {ECO:0000255|PROSITE- ProRule:PRU00526}.				signal transduction (GO:0007165)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)		p.A397A(1)		NS(1)|breast(3)|central_nervous_system(5)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(3)|skin(3)|urinary_tract(1)	44	Esophageal squamous(110;0.137)					TCTTCAGTGTGGCCAAGGGTG	0.622																																						uc002nuf.2																			1	Substitution - coding silent(1)		lung(1)	central_nervous_system(5)|ovary(1)	6						c.(1189-1191)GCC>GCT		rhophilin, Rho GTPase binding protein 2							48.0	41.0	44.0					19																	33490526		2203	4300	6503	SO:0001819	synonymous_variant	85415				signal transduction	perinuclear region of cytoplasm	protein binding	g.chr19:33490526G>A	AF268032	CCDS12427.1	19q13.12	2008-02-05				ENSG00000131941			19974	protein-coding gene	gene with protein product						12221077	Standard	NM_033103		Approved		uc002nuf.3	Q8IUC4		ENST00000254260.3:c.1191C>T	19.37:g.33490526G>A						RHPN2_uc010xro.1_Silent_p.A246A|RHPN2_uc002nue.2_Silent_p.A127A	p.A397A	NM_033103	NP_149094	Q8IUC4	RHPN2_HUMAN			10	1257	-	Esophageal squamous(110;0.137)		397			BRO1.		B2RCG8|B3KUY8|B4DUS7|Q8N3T7|Q8N9D6|Q8NE33|Q96RU1	Silent	SNP	ENST00000254260.3	37	c.1191C>T	CCDS12427.1																																																																																				PASS	0.622	RHPN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450828.2	NM_033103		5	82	5	82	---	---	---	---
WDR88	126248	broad.mit.edu	37	19	33623155	33623155	+	Missense_Mutation	SNP	A	A	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr19:33623155A>T	ENST00000355868.3	+	1	156	c.80A>T	c.(79-81)gAg>gTg	p.E27V	WDR88_ENST00000592765.1_Missense_Mutation_p.E27V|WDR88_ENST00000361680.2_Missense_Mutation_p.E27V	NM_173479.3	NP_775750.3	Q6ZMY6	WDR88_HUMAN	WD repeat domain 88	27								p.E27V(1)		breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	25	Esophageal squamous(110;0.137)					CCCGCCAGCGAGTATTGTCCC	0.701																																						uc002nui.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|breast(1)|central_nervous_system(1)	3						c.(79-81)GAG>GTG		PQQ repeat and WD repeat domain containing							50.0	48.0	48.0					19																	33623155		2203	4300	6503	SO:0001583	missense	126248							g.chr19:33623155A>T	BC031227	CCDS12429.1	19q13.11	2013-01-09	2007-04-04	2007-04-04		ENSG00000166359		"""WD repeat domain containing"""	26999	protein-coding gene	gene with protein product			"""PQQ repeat and WD repeat domain containing"""	PQWD		12477932	Standard	NM_173479		Approved		uc002nui.3	Q6ZMY6		ENST00000355868.3:c.80A>T	19.37:g.33623155A>T	ENSP00000348129:p.Glu27Val						p.E27V	NM_173479	NP_775750	Q6ZMY6	WDR88_HUMAN			1	158	+	Esophageal squamous(110;0.137)		27					Q8NEF8	Missense_Mutation	SNP	ENST00000355868.3	37	c.80A>T	CCDS12429.1	.	.	.	.	.	.	.	.	.	.	A	6.916	0.538623	0.13250	.	.	ENSG00000166359	ENST00000355868;ENST00000361680	T;T	0.62232	0.33;0.04	2.13	-4.27	0.03744	.	.	.	.	.	T	0.34164	0.0888	N	0.14661	0.345	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.08868	-1.0701	9	0.34782	T	0.22	.	0.9744	0.01423	0.2351:0.3394:0.2577:0.1678	.	27	Q6ZMY6	WDR88_HUMAN	V	27	ENSP00000348129:E27V;ENSP00000355148:E27V	ENSP00000348129:E27V	E	+	2	0	WDR88	38314995	0.000000	0.05858	0.000000	0.03702	0.009000	0.06853	-1.695000	0.01913	-1.678000	0.01454	-0.761000	0.03458	GAG		PASS	0.701	WDR88-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450840.1	NM_173479		40	131	40	131	---	---	---	---
LGI4	163175	broad.mit.edu	37	19	35617781	35617781	+	Missense_Mutation	SNP	A	A	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr19:35617781A>T	ENST00000310123.3	-	7	1288	c.769T>A	c.(769-771)Ttc>Atc	p.F257I	LGI4_ENST00000493050.1_5'UTR|LGI4_ENST00000392225.3_Missense_Mutation_p.F257I	NM_139284.2	NP_644813.1	Q8N135	LGI4_HUMAN	leucine-rich repeat LGI family, member 4	257					adult locomotory behavior (GO:0008344)|glial cell proliferation (GO:0014009)|myelination in peripheral nervous system (GO:0022011)|neuron maturation (GO:0042551)	extracellular space (GO:0005615)		p.F257I(1)		endometrium(1)|large_intestine(1)|lung(4)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	10	all_lung(56;7.56e-09)|Lung NSC(56;1.1e-08)|Esophageal squamous(110;0.162)		Epithelial(14;5.54e-20)|OV - Ovarian serous cystadenocarcinoma(14;1.33e-18)|all cancers(14;4.27e-17)|LUSC - Lung squamous cell carcinoma(66;0.0849)			TCGGGCCGGAAGCGCTGCAGG	0.677																																						uc002nxx.2																			1	Substitution - Missense(1)		lung(1)	pancreas(1)	1						c.(769-771)TTC>ATC		leucine-rich repeat LGI family, member 4							25.0	30.0	28.0					19																	35617781		2203	4300	6503	SO:0001583	missense	163175					extracellular region		g.chr19:35617781A>T	AJ487519	CCDS12444.1	19q13.13	2008-07-03			ENSG00000153902	ENSG00000153902			18712	protein-coding gene	gene with protein product		608303				12023020	Standard	NM_139284		Approved		uc002nxx.2	Q8N135	OTTHUMG00000044558	ENST00000310123.3:c.769T>A	19.37:g.35617781A>T	ENSP00000312273:p.Phe257Ile					LGI4_uc002nxy.1_Missense_Mutation_p.F85I|LGI4_uc002nxz.1_Missense_Mutation_p.F85I	p.F257I	NM_139284	NP_644813	Q8N135	LGI4_HUMAN	Epithelial(14;5.54e-20)|OV - Ovarian serous cystadenocarcinoma(14;1.33e-18)|all cancers(14;4.27e-17)|LUSC - Lung squamous cell carcinoma(66;0.0849)		7	1363	-	all_lung(56;7.56e-09)|Lung NSC(56;1.1e-08)|Esophageal squamous(110;0.162)		257					B2RN53|B9EGS7|Q5M8T1	Missense_Mutation	SNP	ENST00000310123.3	37	c.769T>A	CCDS12444.1	.	.	.	.	.	.	.	.	.	.	A	16.33	3.094052	0.56075	.	.	ENSG00000153902	ENST00000310123;ENST00000392225;ENST00000437421	T;T	0.66280	-0.2;0.07	4.1	4.1	0.47936	.	0.199731	0.33712	N	0.004631	T	0.74030	0.3663	M	0.62723	1.935	0.80722	D	1	D;D	0.71674	0.998;0.998	D;D	0.78314	0.991;0.987	T	0.76454	-0.2953	10	0.72032	D	0.01	.	11.0719	0.48008	1.0:0.0:0.0:0.0	.	168;257	Q658V8;Q8N135	.;LGI4_HUMAN	I	257	ENSP00000312273:F257I;ENSP00000376059:F257I	ENSP00000312273:F257I	F	-	1	0	LGI4	40309621	1.000000	0.71417	0.960000	0.40013	0.055000	0.15305	2.725000	0.47294	1.709000	0.51313	0.260000	0.18958	TTC		PASS	0.677	LGI4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000103963.1			11	25	11	25	---	---	---	---
CD22	933	broad.mit.edu	37	19	35835768	35835768	+	Missense_Mutation	SNP	G	G	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr19:35835768G>A	ENST00000085219.5	+	10	2138	c.2072G>A	c.(2071-2073)gGa>gAa	p.G691E	CD22_ENST00000544992.2_Missense_Mutation_p.G691E|CD22_ENST00000594250.1_Missense_Mutation_p.G514E|CD22_ENST00000536635.2_Missense_Mutation_p.G603E|CD22_ENST00000341773.6_Missense_Mutation_p.G514E|MIR5196_ENST00000578146.1_RNA|CD22_ENST00000270311.6_Missense_Mutation_p.G571E|CD22_ENST00000419549.2_Missense_Mutation_p.G519E	NM_001771.3	NP_001762.2	P20273	CD22_HUMAN	CD22 molecule	691					cell adhesion (GO:0007155)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	carbohydrate binding (GO:0030246)	p.G691E(1)		breast(2)|endometrium(2)|kidney(3)|large_intestine(14)|lung(21)|ovary(5)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	54	all_lung(56;9.78e-09)|Lung NSC(56;1.46e-08)|Esophageal squamous(110;0.162)		Epithelial(14;5.83e-19)|OV - Ovarian serous cystadenocarcinoma(14;3.19e-18)|all cancers(14;3.41e-16)|LUSC - Lung squamous cell carcinoma(66;0.0417)			GTGGCTGTGGGACTCGGGTCC	0.622																																					Ovarian(42;1009 1133 23674 26041)	uc010edt.2																			1	Substitution - Missense(1)		lung(1)	ovary(5)|lung(3)|breast(1)	9						c.(2071-2073)GGA>GAA		CD22 molecule precursor	OspA lipoprotein(DB00045)						102.0	107.0	105.0					19																	35835768		2203	4300	6503	SO:0001583	missense	933				cell adhesion		protein binding|sugar binding	g.chr19:35835768G>A	X52785	CCDS12457.1, CCDS54247.1, CCDS54248.1, CCDS54249.1, CCDS62634.1	19q13.1	2013-01-29	2006-03-28		ENSG00000012124	ENSG00000012124		"""CD molecules"", ""Sialic acid binding Ig-like lectins"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	1643	protein-coding gene	gene with protein product	"""sialic acid binding Ig-like lectin 2"""	107266	"""CD22 antigen"""			8496602, 1691828	Standard	NM_001185099		Approved	SIGLEC-2, SIGLEC2	uc010edt.3	P20273		ENST00000085219.5:c.2072G>A	19.37:g.35835768G>A	ENSP00000085219:p.Gly691Glu					CD22_uc010xst.1_Missense_Mutation_p.G519E|CD22_uc010edu.2_Missense_Mutation_p.G603E|CD22_uc010edv.2_Missense_Mutation_p.G691E|CD22_uc002nzb.3_Missense_Mutation_p.G514E|CD22_uc010edx.2_RNA	p.G691E	NM_001771	NP_001762	P20273	CD22_HUMAN	Epithelial(14;5.83e-19)|OV - Ovarian serous cystadenocarcinoma(14;3.19e-18)|all cancers(14;3.41e-16)|LUSC - Lung squamous cell carcinoma(66;0.0417)		10	2149	+	all_lung(56;9.78e-09)|Lung NSC(56;1.46e-08)|Esophageal squamous(110;0.162)		691			Helical; (Potential).		F5GYU4|F5H7U3|O95699|O95701|O95702|O95703|Q01665|Q32M46|Q92872|Q92873|Q9UQA6|Q9UQA7|Q9UQA8|Q9UQA9|Q9UQB0|Q9Y2A6	Missense_Mutation	SNP	ENST00000085219.5	37	c.2072G>A	CCDS12457.1	.	.	.	.	.	.	.	.	.	.	G	16.04	3.010321	0.54361	.	.	ENSG00000012124	ENST00000085219;ENST00000536635;ENST00000341773;ENST00000544992;ENST00000270311;ENST00000419549	T;T;T;T;T;T	0.56611	0.87;0.5;0.45;0.83;0.7;0.96	5.25	3.07	0.35406	.	0.152670	0.30556	N	0.009369	T	0.62865	0.2463	M	0.74881	2.28	0.24950	N	0.991795	D;D;D;D;D	0.89917	0.998;1.0;1.0;0.998;1.0	D;D;D;D;D	0.91635	0.966;0.993;0.998;0.943;0.999	T	0.56968	-0.7891	10	0.02654	T	1	.	8.6547	0.34055	0.0:0.1665:0.6605:0.173	.	519;691;603;691;514	Q32M46;F5GYU4;F5H7U3;P20273;P20273-2	.;.;.;CD22_HUMAN;.	E	691;603;514;691;571;519	ENSP00000085219:G691E;ENSP00000442279:G603E;ENSP00000339349:G514E;ENSP00000441237:G691E;ENSP00000270311:G571E;ENSP00000403822:G519E	ENSP00000085219:G691E	G	+	2	0	CD22	40527608	0.981000	0.34729	0.031000	0.17742	0.001000	0.01503	2.002000	0.40835	0.582000	0.29556	-0.470000	0.05040	GGA		PASS	0.622	CD22-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000466099.1	NM_001771		33	128	33	128	---	---	---	---
HAUS5	23354	broad.mit.edu	37	19	36113796	36113796	+	Missense_Mutation	SNP	G	G	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr19:36113796G>T	ENST00000203166.5	+	19	1828	c.1803G>T	c.(1801-1803)caG>caT	p.Q601H	HAUS5_ENST00000379045.2_3'UTR	NM_015302.1	NP_056117.1	O94927	HAUS5_HUMAN	HAUS augmin-like complex, subunit 5	601					centrosome organization (GO:0051297)|mitotic nuclear division (GO:0007067)|spindle assembly (GO:0051225)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|HAUS complex (GO:0070652)|microtubule (GO:0005874)		p.Q601H(1)		NS(1)|breast(2)|cervix(3)|endometrium(1)|large_intestine(2)|lung(5)|skin(2)	16						AGCCAGGCCAGGCCGCCCTCT	0.662																																						uc002oam.1																			1	Substitution - Missense(1)		lung(1)		0						c.(1801-1803)CAG>CAT		HAUS augmin-like complex, subunit 5							44.0	46.0	45.0					19																	36113796		1960	4153	6113	SO:0001583	missense	23354				cell division|centrosome organization|mitosis|spindle assembly	centrosome|HAUS complex|microtubule|spindle		g.chr19:36113796G>T	AB020648	CCDS42550.1	19q13.12	2012-02-22	2009-04-20	2009-04-20	ENSG00000249115	ENSG00000249115		"""HAUS augmin-like complex subunits"""	29130	protein-coding gene	gene with protein product		613432	"""KIAA0841"""	KIAA0841		10048485, 19427217	Standard	NM_015302		Approved	dgt5	uc002oam.1	O94927	OTTHUMG00000048110	ENST00000203166.5:c.1803G>T	19.37:g.36113796G>T	ENSP00000439056:p.Gln601His						p.Q601H	NM_015302	NP_056117	O94927	HAUS5_HUMAN			19	1854	+			601					B2RXK1|Q6P2P7|Q7L3D5|Q96CT8	Missense_Mutation	SNP	ENST00000203166.5	37	c.1803G>T	CCDS42550.1	.	.	.	.	.	.	.	.	.	.	g	9.620	1.133478	0.21041	.	.	ENSG00000249115	ENST00000203166	T	0.41065	1.01	4.82	-1.66	0.08265	.	0.000000	0.85682	D	0.000000	T	0.57431	0.2053	M	0.71581	2.175	0.35504	D	0.800024	D	0.89917	1.0	D	0.85130	0.997	T	0.64381	-0.6421	10	0.87932	D	0	-1.2676	11.1238	0.48306	0.2901:0.0:0.7099:0.0	.	601	O94927	HAUS5_HUMAN	H	601	ENSP00000439056:Q601H	ENSP00000439056:Q601H	Q	+	3	2	HAUS5	40805636	0.130000	0.22417	0.023000	0.16930	0.002000	0.02628	0.069000	0.14552	-0.439000	0.07222	-0.943000	0.02675	CAG		PASS	0.662	HAUS5-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459055.2			57	78	57	78	---	---	---	---
KMT2B	9757	broad.mit.edu	37	19	36214714	36214714	+	Missense_Mutation	SNP	G	G	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr19:36214714G>A	ENST00000222270.7	+	8	3140	c.3140G>A	c.(3139-3141)cGg>cAg	p.R1047Q	KMT2B_ENST00000420124.1_Missense_Mutation_p.R1047Q|KMT2B_ENST00000607650.1_RNA	NM_014727.1	NP_055542.1	Q9UMN6	KMT2B_HUMAN	lysine (K)-specific methyltransferase 2B	1047					chromatin-mediated maintenance of transcription (GO:0048096)|gene silencing (GO:0016458)|histone H3-K4 methylation (GO:0051568)|histone H3-K4 trimethylation (GO:0080182)|oocyte differentiation (GO:0009994)|ovarian follicle development (GO:0001541)|ovulation (GO:0030728)|regulation of histone H3-K4 methylation (GO:0051569)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)	p.R1049Q(1)									GGCCCACGCCGGGGGGCGGGA	0.701																																						uc010eei.2																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(6)|breast(2)|ovary(1)|kidney(1)|skin(1)	11						c.(3139-3141)CGG>CAG		myeloid/lymphoid or mixed-lineage leukemia 4							7.0	8.0	7.0					19																	36214714		1522	3569	5091	SO:0001583	missense	9757				chromatin-mediated maintenance of transcription		DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:36214714G>A	AJ007041	CCDS46055.1	19q13.1	2014-02-18			ENSG00000105663	ENSG00000272333		"""Chromatin-modifying enzymes / K-methyltransferases"""	15840	protein-coding gene	gene with protein product	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila) 4"""	606834				10409430, 10637508	Standard	XM_006723513		Approved	KIAA0304, MLL2, TRX2, HRX2, WBP7, MLL1B, MLL4		Q9UMN6	OTTHUMG00000048119	ENST00000222270.7:c.3140G>A	19.37:g.36214714G>A	ENSP00000222270:p.Arg1047Gln						p.R1047Q	NM_014727	NP_055542	Q9UMN6	MLL4_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0515)		9	3140	+	all_lung(56;3.33e-07)|Lung NSC(56;5.02e-07)|Esophageal squamous(110;0.162)		1047					O15022|O95836|Q96GP2|Q96IP3|Q9UK25|Q9Y668|Q9Y669	Missense_Mutation	SNP	ENST00000222270.7	37	c.3140G>A	CCDS46055.1	.	.	.	.	.	.	.	.	.	.	G	13.86	2.363617	0.41902	.	.	ENSG00000105663	ENST00000222270;ENST00000420124	D;D	0.84442	-1.85;-1.85	5.82	5.82	0.92795	.	0.000000	0.41097	D	0.000944	D	0.84741	0.5539	N	0.22421	0.69	0.42916	D	0.994276	D	0.69078	0.997	D	0.70227	0.968	T	0.81163	-0.1058	10	0.21540	T	0.41	.	11.0183	0.47703	0.0844:0.0:0.9156:0.0	.	1047	Q9UMN6	MLL4_HUMAN	Q	1047	ENSP00000222270:R1047Q;ENSP00000398837:R1047Q	ENSP00000222270:R1047Q	R	+	2	0	AD000671.1	40906554	1.000000	0.71417	1.000000	0.80357	1.000000	0.99986	4.489000	0.60309	2.757000	0.94681	0.655000	0.94253	CGG		PASS	0.701	KMT2B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_014727		6	14	6	14	---	---	---	---
KIRREL2	84063	broad.mit.edu	37	19	36352130	36352130	+	Missense_Mutation	SNP	C	C	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr19:36352130C>A	ENST00000360202.5	+	9	1361	c.1163C>A	c.(1162-1164)gCc>gAc	p.A388D	KIRREL2_ENST00000347900.6_Missense_Mutation_p.A338D|NPHS1_ENST00000591817.1_Intron|KIRREL2_ENST00000592409.1_Missense_Mutation_p.A388D|KIRREL2_ENST00000262625.7_Missense_Mutation_p.A388D	NM_032123.5|NM_199180.2	NP_115499.4|NP_954649.2	Q6UWL6	KIRR2_HUMAN	kin of IRRE like 2 (Drosophila)	388	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.A388D(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)			CGGGGCGGCGCCGCGGAGGCT	0.692																																						uc002ocb.3																			2	Substitution - Missense(2)		lung(2)	ovary(1)|central_nervous_system(1)|skin(1)	3						c.(1162-1164)GCC>GAC		kin of IRRE-like 2 isoform c							12.0	15.0	14.0					19																	36352130		2189	4286	6475	SO:0001583	missense	84063				cell adhesion	integral to membrane|plasma membrane		g.chr19:36352130C>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		ENST00000360202.5:c.1163C>A	19.37:g.36352130C>A	ENSP00000353331:p.Ala388Asp					KIRREL2_uc002obz.3_Missense_Mutation_p.A388D|KIRREL2_uc002oca.3_Missense_Mutation_p.A338D|KIRREL2_uc002occ.3_Missense_Mutation_p.A335D|KIRREL2_uc002ocd.3_Missense_Mutation_p.A385D	p.A388D	NM_199180	NP_954649	Q6UWL6	KIRR2_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0515)		9	1375	+	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		388			Extracellular (Potential).|Ig-like C2-type 4.		C9JHF1|C9JJ76|F1T0I2|Q6P1R1|Q7Z5P1|Q7Z5P2|Q96IQ8|Q9H0T1	Missense_Mutation	SNP	ENST00000360202.5	37	c.1163C>A	CCDS12481.1	.	.	.	.	.	.	.	.	.	.	C	7.820	0.717533	0.15372	.	.	ENSG00000126259	ENST00000262625;ENST00000347900;ENST00000360202;ENST00000341658	T;T;T	0.67171	-0.25;-0.01;-0.2	4.24	0.684	0.18003	Immunoglobulin-like (1);	1.230610	0.05843	N	0.619646	T	0.41558	0.1164	N	0.04636	-0.2	0.09310	N	1	B;B;B;B;B	0.30973	0.175;0.277;0.175;0.302;0.001	B;B;B;B;B	0.29785	0.055;0.107;0.055;0.054;0.002	T	0.38243	-0.9670	10	0.52906	T	0.07	-0.5985	3.5416	0.07814	0.1937:0.577:0.0:0.2292	.	388;368;388;338;388	F1T0I2;Q6UWL6-4;Q6UWL6;Q6UWL6-3;Q6UWL6-2	.;.;KIRR2_HUMAN;.;.	D	388;338;388;368	ENSP00000262625:A388D;ENSP00000345067:A338D;ENSP00000353331:A388D	ENSP00000262625:A388D	A	+	2	0	KIRREL2	41043970	0.004000	0.15560	0.028000	0.17463	0.003000	0.03518	1.087000	0.30865	0.380000	0.24823	-0.712000	0.03635	GCC		PASS	0.692	KIRREL2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000452561.1	NM_032123		12	8	12	8	---	---	---	---
ZNF585B	92285	broad.mit.edu	37	19	37676857	37676857	+	Nonsense_Mutation	SNP	C	C	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr19:37676857C>A	ENST00000532828.2	-	5	1833	c.1582G>T	c.(1582-1584)Gga>Tga	p.G528*	CTC-454I21.3_ENST00000585860.2_Intron|ZNF585B_ENST00000531805.1_Nonsense_Mutation_p.G473*|ZNF585B_ENST00000527838.1_3'UTR|ZNF585B_ENST00000312908.5_Nonsense_Mutation_p.G116*	NM_152279.3	NP_689492.3	Q52M93	Z585B_HUMAN	zinc finger protein 585B	528					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.G528*(1)		NS(1)|breast(3)|endometrium(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)	29			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			AAGGCTTTTCCACAAGTATTG	0.408																																					Melanoma(93;882 1454 18863 28917 48427)	uc002ofq.2																			1	Substitution - Nonsense(1)		lung(1)	ovary(1)	1						c.(1582-1584)GGA>TGA		zinc finger protein 585B							70.0	72.0	71.0					19																	37676857		2203	4300	6503	SO:0001587	stop_gained	92285				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding	g.chr19:37676857C>A	AK027834	CCDS12500.1	19q13.13	2013-01-08				ENSG00000245680		"""Zinc fingers, C2H2-type"", ""-"""	30948	protein-coding gene	gene with protein product						12477932	Standard	NM_152279		Approved	FLJ14928, SZFP41	uc002ofq.3	Q52M93		ENST00000532828.2:c.1582G>T	19.37:g.37676857C>A	ENSP00000433773:p.Gly528*					uc002ofp.1_5'Flank|ZNF585B_uc002ofr.1_Nonsense_Mutation_p.G342*	p.G528*	NM_152279	NP_689492	Q52M93	Z585B_HUMAN	COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)		5	1836	-			528			C2H2-type 13.		Q8IZD3|Q96JW6	Nonsense_Mutation	SNP	ENST00000532828.2	37	c.1582G>T	CCDS12500.1	.	.	.	.	.	.	.	.	.	.	C	38	7.247155	0.98161	.	.	ENSG00000245680	ENST00000531805;ENST00000532828;ENST00000312908	.	.	.	2.45	2.45	0.29901	.	0.000000	0.37012	N	0.002288	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	.	12.0481	0.53491	0.0:1.0:0.0:0.0	.	.	.	.	X	473;528;116	.	ENSP00000442139:G116X	G	-	1	0	ZNF585B	42368697	0.977000	0.34250	0.381000	0.26106	0.478000	0.33099	2.253000	0.43205	1.376000	0.46267	0.298000	0.19748	GGA		PASS	0.408	ZNF585B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388272.2	NM_152279		36	117	36	117	---	---	---	---
ZNF781	163115	broad.mit.edu	37	19	38160624	38160624	+	Silent	SNP	T	T	C			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr19:38160624T>C	ENST00000590008.1	-	5	1278	c.426A>G	c.(424-426)agA>agG	p.R142R	ZNF781_ENST00000358582.4_Silent_p.R142R|ZNF781_ENST00000593040.1_5'Flank|ZFP30_ENST00000586732.1_Intron			Q8N8C0	ZN781_HUMAN	zinc finger protein 781	142					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.R142R(1)		NS(1)|breast(2)|large_intestine(5)|lung(11)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	24						TCGTAAAGTCTCTCATCAGTG	0.373																																						uc002ogy.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(424-426)AGA>AGG		zinc finger protein 781							134.0	133.0	134.0					19																	38160624		2203	4300	6503	SO:0001819	synonymous_variant	163115				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:38160624T>C	AK097019	CCDS12507.1	19q13.12	2013-01-08				ENSG00000196381		"""Zinc fingers, C2H2-type"""	26745	protein-coding gene	gene with protein product							Standard	NM_152605		Approved	FLJ37549	uc002ogy.2	Q8N8C0		ENST00000590008.1:c.426A>G	19.37:g.38160624T>C						ZNF781_uc002ogz.2_Silent_p.R137R	p.R142R	NM_152605	NP_689818	Q8N8C0	ZN781_HUMAN			4	1168	-			142					Q2VPJ8	Silent	SNP	ENST00000590008.1	37	c.426A>G	CCDS12507.1																																																																																				PASS	0.373	ZNF781-002	KNOWN	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000459495.2	NM_152605		93	67	93	67	---	---	---	---
ZNF781	163115	broad.mit.edu	37	19	38161015	38161015	+	Missense_Mutation	SNP	G	G	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr19:38161015G>T	ENST00000590008.1	-	5	887	c.35C>A	c.(34-36)gCa>gAa	p.A12E	ZNF781_ENST00000358582.4_Missense_Mutation_p.A12E|ZNF781_ENST00000593040.1_5'Flank|ZFP30_ENST00000586732.1_Intron			Q8N8C0	ZN781_HUMAN	zinc finger protein 781	12					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.A12E(1)		NS(1)|breast(2)|large_intestine(5)|lung(11)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	24						AGCAGTCTCTGCCACATTCTT	0.343																																						uc002ogy.2																			1	Substitution - Missense(1)		lung(1)		0						c.(34-36)GCA>GAA		zinc finger protein 781							97.0	99.0	98.0					19																	38161015		2203	4299	6502	SO:0001583	missense	163115				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:38161015G>T	AK097019	CCDS12507.1	19q13.12	2013-01-08				ENSG00000196381		"""Zinc fingers, C2H2-type"""	26745	protein-coding gene	gene with protein product							Standard	NM_152605		Approved	FLJ37549	uc002ogy.2	Q8N8C0		ENST00000590008.1:c.35C>A	19.37:g.38161015G>T	ENSP00000466370:p.Ala12Glu					ZNF781_uc002ogz.2_Missense_Mutation_p.A7E	p.A12E	NM_152605	NP_689818	Q8N8C0	ZN781_HUMAN			4	777	-			12					Q2VPJ8	Missense_Mutation	SNP	ENST00000590008.1	37	c.35C>A	CCDS12507.1	.	.	.	.	.	.	.	.	.	.	G	11.75	1.731780	0.30684	.	.	ENSG00000196381	ENST00000358582;ENST00000545586	T	0.05319	3.46	2.19	-0.562	0.11781	.	.	.	.	.	T	0.03178	0.0093	L	0.31926	0.97	0.09310	N	1	B	0.20459	0.045	B	0.10450	0.005	T	0.45963	-0.9225	9	0.02654	T	1	.	0.7245	0.00946	0.171:0.2317:0.3628:0.2345	.	12	Q8N8C0	ZN781_HUMAN	E	12	ENSP00000351391:A12E	ENSP00000351391:A12E	A	-	2	0	ZNF781	42852855	0.000000	0.05858	0.002000	0.10522	0.004000	0.04260	-0.908000	0.04063	0.243000	0.21327	0.537000	0.68136	GCA		PASS	0.343	ZNF781-002	KNOWN	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000459495.2	NM_152605		92	67	92	67	---	---	---	---
RYR1	6261	broad.mit.edu	37	19	38991614	38991614	+	Missense_Mutation	SNP	C	C	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr19:38991614C>A	ENST00000359596.3	+	47	7598	c.7598C>A	c.(7597-7599)gCc>gAc	p.A2533D	RYR1_ENST00000355481.4_Missense_Mutation_p.A2533D|RYR1_ENST00000360985.3_Missense_Mutation_p.A2533D			P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	2533	6 X approximate repeats.				calcium ion transport (GO:0006816)|cellular response to caffeine (GO:0071313)|cytosolic calcium ion homeostasis (GO:0051480)|ion transmembrane transport (GO:0034220)|muscle contraction (GO:0006936)|ossification involved in bone maturation (GO:0043931)|outflow tract morphogenesis (GO:0003151)|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)|skeletal muscle fiber development (GO:0048741)|skin development (GO:0043588)|transmembrane transport (GO:0055085)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|I band (GO:0031674)|integral component of plasma membrane (GO:0005887)|junctional membrane complex (GO:0030314)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|T-tubule (GO:0030315)|terminal cisterna (GO:0014802)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|voltage-gated calcium channel activity (GO:0005245)	p.A2533D(1)		NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Caffeine(DB00201)|Dantrolene(DB01219)|Suramin(DB04786)	ATGAGGGCAGCCGCCTCGCTG	0.642																																						uc002oit.2																			1	Substitution - Missense(1)		lung(1)	ovary(7)|pancreas(2)|breast(1)|central_nervous_system(1)|skin(1)	12						c.(7597-7599)GCC>GAC		skeletal muscle ryanodine receptor isoform 1	Dantrolene(DB01219)						40.0	31.0	34.0					19																	38991614		2203	4300	6503	SO:0001583	missense	6261				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity	g.chr19:38991614C>A	J05200	CCDS33011.1, CCDS42563.1	19q13.1	2014-09-17				ENSG00000196218		"""Ion channels / Ryanodine receptors"""	10483	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 137"""	180901	"""central core disease of muscle"""	MHS, MHS1, CCO		1862346, 16621918	Standard	NM_000540		Approved	RYR, PPP1R137	uc002oit.3	P21817		ENST00000359596.3:c.7598C>A	19.37:g.38991614C>A	ENSP00000352608:p.Ala2533Asp					RYR1_uc002oiu.2_Missense_Mutation_p.A2533D|RYR1_uc002oiv.1_5'UTR	p.A2533D	NM_000540	NP_000531	P21817	RYR1_HUMAN	Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		47	7728	+	all_cancers(60;7.91e-06)		2533			Cytoplasmic.|6 X approximate repeats.		Q16314|Q16368|Q9NPK1|Q9P1U4	Missense_Mutation	SNP	ENST00000359596.3	37	c.7598C>A	CCDS33011.1	.	.	.	.	.	.	.	.	.	.	C	18.12	3.552298	0.65311	.	.	ENSG00000196218	ENST00000359596;ENST00000355481;ENST00000360985	D;D;D	0.89552	-2.53;-2.53;-2.53	4.41	4.41	0.53225	.	0.000000	0.64402	U	0.000003	D	0.92515	0.7623	M	0.81497	2.545	0.51012	D	0.999903	D;D	0.56746	0.977;0.961	P;P	0.53593	0.73;0.541	D	0.93875	0.7166	10	0.87932	D	0	.	15.9284	0.79639	0.0:1.0:0.0:0.0	.	2533;2533	P21817-2;P21817	.;RYR1_HUMAN	D	2533	ENSP00000352608:A2533D;ENSP00000347667:A2533D;ENSP00000354254:A2533D	ENSP00000347667:A2533D	A	+	2	0	RYR1	43683454	1.000000	0.71417	0.700000	0.30305	0.834000	0.47266	7.621000	0.83083	2.259000	0.74868	0.491000	0.48974	GCC		PASS	0.642	RYR1-010	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000462137.1			19	12	19	12	---	---	---	---
RINL	126432	broad.mit.edu	37	19	39362466	39362466	+	Missense_Mutation	SNP	G	G	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr19:39362466G>A	ENST00000591812.1	-	5	444	c.358C>T	c.(358-360)Cat>Tat	p.H120Y	RINL_ENST00000602238.1_5'Flank|RINL_ENST00000340740.3_Missense_Mutation_p.H6Y|CTC-360G5.6_ENST00000593830.1_RNA|RINL_ENST00000598904.1_Missense_Mutation_p.H6Y			Q6ZS11	RINL_HUMAN	Ras and Rab interactor-like	120					endocytosis (GO:0006897)|positive regulation of GTPase activity (GO:0043547)|protein transport (GO:0015031)	actin cytoskeleton (GO:0015629)|cytoplasmic vesicle (GO:0031410)|ruffle (GO:0001726)	GTPase activator activity (GO:0005096)|guanyl-nucleotide exchange factor activity (GO:0005085)	p.H6Y(1)		endometrium(3)|kidney(4)|large_intestine(2)|lung(4)|pancreas(1)|skin(1)|urinary_tract(2)	17						GCCAGGAGATGGGGCAGGTCT	0.567																																						uc002ojq.2																			1	Substitution - Missense(1)		lung(1)	pancreas(1)	1						c.(16-18)CAT>TAT		Ras and Rab interactor-like							81.0	81.0	81.0					19																	39362466		2203	4300	6503	SO:0001583	missense	126432						GTPase activator activity	g.chr19:39362466G>A	AK127808	CCDS12522.1, CCDS59386.1	19q13.2	2010-07-13			ENSG00000187994	ENSG00000187994			24795	protein-coding gene	gene with protein product							Standard	NM_001195833		Approved	FLJ45909	uc010xuo.2	Q6ZS11		ENST00000591812.1:c.358C>T	19.37:g.39362466G>A	ENSP00000467107:p.His120Tyr					RINL_uc002ojr.1_5'Flank|RINL_uc010xuo.1_Missense_Mutation_p.H120Y	p.H6Y	NM_198445	NP_940847	Q6ZS11	RINL_HUMAN			5	404	-			6					B4DPG5	Missense_Mutation	SNP	ENST00000591812.1	37	c.16C>T	CCDS59386.1	.	.	.	.	.	.	.	.	.	.	G	19.36	3.813052	0.70912	.	.	ENSG00000187994	ENST00000340740;ENST00000536520	T	0.52057	0.68	4.91	2.58	0.30949	.	0.225475	0.37809	N	0.001937	T	0.41627	0.1167	L	0.27053	0.805	0.25531	N	0.987271	D;D	0.61697	0.99;0.978	P;P	0.53313	0.723;0.676	T	0.19353	-1.0308	10	0.87932	D	0	-13.756	7.0243	0.24932	0.0:0.2083:0.6041:0.1876	.	120;6	B4DPG5;Q6ZS11	.;RINL_HUMAN	Y	6	ENSP00000340369:H6Y	ENSP00000340369:H6Y	H	-	1	0	RINL	44054306	1.000000	0.71417	1.000000	0.80357	0.951000	0.60555	1.061000	0.30542	1.250000	0.43966	0.491000	0.48974	CAT		PASS	0.567	RINL-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000460433.1	NM_198445		48	31	48	31	---	---	---	---
ARHGEF1	9138	broad.mit.edu	37	19	42396400	42396400	+	Splice_Site	SNP	A	A	C			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr19:42396400A>C	ENST00000354532.3	+	6	472		c.e6-1		ARHGEF1_ENST00000347545.4_Splice_Site|ARHGEF1_ENST00000337665.4_Splice_Site|ARHGEF1_ENST00000596957.1_3'UTR|ARHGEF1_ENST00000599846.1_Splice_Site|ARHGEF1_ENST00000378152.4_Splice_Site	NM_004706.3	NP_004697.2	Q92888	ARHG1_HUMAN	Rho guanine nucleotide exchange factor (GEF) 1						cell proliferation (GO:0008283)|negative regulation of axonogenesis (GO:0050771)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of axonogenesis (GO:0050770)|Rho protein signal transduction (GO:0007266)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)|poly(A) RNA binding (GO:0044822)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.?(1)		breast(2)|endometrium(8)|large_intestine(6)|lung(9)|ovary(3)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	37		Renal(1328;0.000518)|Hepatocellular(1079;0.0046)|Medulloblastoma(540;0.0425)		Epithelial(262;5.89e-46)|GBM - Glioblastoma multiforme(1328;2.49e-12)|STAD - Stomach adenocarcinoma(1328;0.00644)		TCTCTTGAGCAGGTTCTCCGG	0.607																																						uc002orx.2																			1	Unknown(1)		lung(1)	ovary(3)|large_intestine(1)	4						c.e6-2		Rho guanine nucleotide exchange factor 1 isoform							136.0	127.0	130.0					19																	42396400		2203	4300	6503	SO:0001630	splice_region_variant	9138				cell proliferation|negative regulation of axonogenesis|nerve growth factor receptor signaling pathway|positive regulation of axonogenesis|regulation of Rho protein signal transduction|Rho protein signal transduction	cytosol|plasma membrane	GTPase activator activity|protein binding|Rho guanyl-nucleotide exchange factor activity	g.chr19:42396400A>C	U64105	CCDS12590.1, CCDS12591.1, CCDS12592.1	19q13.13	2014-06-19			ENSG00000076928	ENSG00000076928		"""Rho guanine nucleotide exchange factors"""	681	protein-coding gene	gene with protein product		601855				8810315, 9135076	Standard	NM_004706		Approved	P115-RHOGEF, SUB1.5, LBCL2	uc002osa.3	Q92888	OTTHUMG00000182679	ENST00000354532.3:c.325-1A>C	19.37:g.42396400A>C						ARHGEF1_uc002orw.1_Splice_Site_p.V109_splice|ARHGEF1_uc002ory.2_Splice_Site_p.V76_splice|ARHGEF1_uc002orz.2_5'UTR|ARHGEF1_uc002osa.2_Splice_Site_p.V124_splice|ARHGEF1_uc002osb.2_Splice_Site_p.V91_splice	p.V109_splice	NM_004706	NP_004697	Q92888	ARHG1_HUMAN		Epithelial(262;5.89e-46)|GBM - Glioblastoma multiforme(1328;2.49e-12)|STAD - Stomach adenocarcinoma(1328;0.00644)	6	434	+		Renal(1328;0.000518)|Hepatocellular(1079;0.0046)|Medulloblastoma(540;0.0425)						O00513|Q8N4J4|Q96BF4|Q96F17|Q9BSB1	Splice_Site	SNP	ENST00000354532.3	37	c.325_splice	CCDS12591.1	.	.	.	.	.	.	.	.	.	.	.	16.50	3.141355	0.57044	.	.	ENSG00000076928	ENST00000354532;ENST00000347545;ENST00000316079;ENST00000337665;ENST00000378152	.	.	.	4.04	4.04	0.47022	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.2899	0.49244	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	ARHGEF1	47088240	1.000000	0.71417	1.000000	0.80357	0.769000	0.43574	3.726000	0.54977	1.843000	0.53566	0.254000	0.18369	.		PASS	0.607	ARHGEF1-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000463360.1	NM_199002	Intron	46	248	46	248	---	---	---	---
POU2F2	5452	broad.mit.edu	37	19	42600276	42600276	+	Silent	SNP	G	G	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr19:42600276G>T	ENST00000526816.2	-	8	636	c.621C>A	c.(619-621)gcC>gcA	p.A207A	POU2F2_ENST00000342301.4_Silent_p.A207A|POU2F2_ENST00000389341.5_Silent_p.A191A|POU2F2_ENST00000529067.1_Silent_p.A191A|POU2F2_ENST00000560558.1_Silent_p.A152A|POU2F2_ENST00000533720.1_Silent_p.A191A|POU2F2_ENST00000529952.1_Silent_p.A207A|POU2F2_ENST00000560398.1_Silent_p.A213A			P09086	PO2F2_HUMAN	POU class 2 homeobox 2	207	POU-specific. {ECO:0000255|PROSITE- ProRule:PRU00530}.				cell maturation (GO:0048469)|humoral immune response (GO:0006959)|immunoglobulin secretion involved in immune response (GO:0002380)|mature B cell differentiation (GO:0002335)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.A191A(1)|p.A207A(1)		kidney(1)|large_intestine(5)|lung(4)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Prostate(69;0.059)			Dolutegravir(DB08930)	TGAAGGTGCGGGCGAATTGCT	0.662																																						uc002osp.2																			2	Substitution - coding silent(2)		lung(2)	ovary(1)|skin(1)	2						c.(619-621)GCC>GCA		POU domain, class 2, transcription factor 2							54.0	48.0	50.0					19																	42600276		2203	4300	6503	SO:0001819	synonymous_variant	5452				humoral immune response|transcription from RNA polymerase II promoter	cytoplasm|nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr19:42600276G>T		CCDS33035.1, CCDS56094.1, CCDS56095.1, CCDS58665.1	19q13.2	2011-06-20	2007-07-13					"""Homeoboxes / POU class"""	9213	protein-coding gene	gene with protein product		164176	"""POU domain class 2, transcription factor 2"""	OTF2			Standard	NM_001207026		Approved	OCT2	uc002osp.3	P09086		ENST00000526816.2:c.621C>A	19.37:g.42600276G>T						POU2F2_uc002osn.2_Silent_p.A191A|POU2F2_uc002oso.2_5'UTR|POU2F2_uc002osq.2_Silent_p.A191A|POU2F2_uc002osr.1_Silent_p.A207A	p.A207A	NM_002698	NP_002689	P09086	PO2F2_HUMAN			8	688	-		Prostate(69;0.059)	207			POU-specific.		Q16648|Q7M4M8|Q9BRS4	Silent	SNP	ENST00000526816.2	37	c.621C>A	CCDS56095.1																																																																																				PASS	0.662	POU2F2-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000387329.3			16	19	16	19	---	---	---	---
PSG6	5675	broad.mit.edu	37	19	43414914	43414914	+	Missense_Mutation	SNP	G	G	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr19:43414914G>T	ENST00000292125.2	-	3	568	c.524C>A	c.(523-525)gCa>gAa	p.A175E	PSG6_ENST00000402603.4_Missense_Mutation_p.A175E|PSG6_ENST00000187910.2_Missense_Mutation_p.A175E	NM_002782.4	NP_002773.1	Q00889	PSG6_HUMAN	pregnancy specific beta-1-glycoprotein 6	175	Ig-like C2-type 1.				female pregnancy (GO:0007565)	extracellular region (GO:0005576)		p.A175E(1)		central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(19)|ovary(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	44		Prostate(69;0.00899)				CAGGTAGCTTGCATCCGGAGT	0.527																																						uc002ovj.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(523-525)GCA>GAA		pregnancy specific beta-1-glycoprotein 6 isoform							211.0	208.0	209.0					19																	43414914		2201	4299	6500	SO:0001583	missense	5675				female pregnancy	extracellular region		g.chr19:43414914G>T		CCDS12613.1, CCDS33038.1	19q13.2	2013-01-29			ENSG00000170848	ENSG00000170848		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	9523	protein-coding gene	gene with protein product		176395				1690992	Standard	NM_002782		Approved			Q00889	OTTHUMG00000151127	ENST00000292125.2:c.524C>A	19.37:g.43414914G>T	ENSP00000292125:p.Ala175Glu					PSG3_uc002ouf.2_Intron|PSG11_uc002ouw.2_Intron|PSG7_uc002ous.1_Intron|PSG7_uc002out.1_Intron|PSG10_uc002ouv.1_Intron|PSG6_uc002ovh.1_Missense_Mutation_p.A182E|PSG6_uc002ovi.2_Missense_Mutation_p.A176E|PSG6_uc010xwk.1_Intron|PSG11_uc002ovk.1_Intron|PSG6_uc002ove.1_5'UTR|PSG6_uc002ovf.1_Missense_Mutation_p.A175E|PSG6_uc002ovg.1_Missense_Mutation_p.A175E	p.A175E	NM_002782	NP_002773	Q00889	PSG6_HUMAN			3	576	-		Prostate(69;0.00899)	175			Ig-like C2-type 1.		O75244|Q15224|Q15235|Q549K1	Missense_Mutation	SNP	ENST00000292125.2	37	c.524C>A	CCDS12613.1	.	.	.	.	.	.	.	.	.	.	N	11.99	1.803217	0.31869	.	.	ENSG00000170848	ENST00000187910;ENST00000402603;ENST00000292125;ENST00000402456	T;T;T	0.13089	2.62;2.62;2.62	1.64	-1.56	0.08532	Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.14227	0.0344	N	0.21508	0.67	0.09310	N	1	P;P;P	0.49253	0.767;0.921;0.713	P;P;P	0.57324	0.511;0.628;0.818	T	0.19844	-1.0293	9	0.66056	D	0.02	.	3.3419	0.07122	0.0:0.2905:0.4157:0.2938	.	175;175;175	Q00889;Q00889-2;B5MCE1	PSG6_HUMAN;.;.	E	175	ENSP00000187910:A175E;ENSP00000385736:A175E;ENSP00000292125:A175E	ENSP00000187910:A175E	A	-	2	0	PSG6	48106754	0.000000	0.05858	0.001000	0.08648	0.001000	0.01503	-1.293000	0.02770	0.037000	0.15575	-1.133000	0.01973	GCA		PASS	0.527	PSG6-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000321436.1	NM_002782		73	247	73	247	---	---	---	---
PSG7	5676	broad.mit.edu	37	19	43433662	43433662	+	RNA	SNP	G	G	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr19:43433662G>T	ENST00000406070.2	-	0	737				PSG7_ENST00000446844.3_RNA	NM_002783.2	NP_002774.2	Q13046	PSG7_HUMAN	pregnancy specific beta-1-glycoprotein 7 (gene/pseudogene)						female pregnancy (GO:0007565)	extracellular region (GO:0005576)							Prostate(69;0.00682)				ACATTCATAGGGTCCTGCAGT	0.512																																						uc002ovl.3																			0					0						c.(640-642)CCC>CAC		pregnancy specific beta-1-glycoprotein 7							267.0	276.0	273.0					19																	43433662		2201	4300	6501			5676				female pregnancy	extracellular region		g.chr19:43433662G>T			19q13.2	2013-01-29	2010-02-26		ENSG00000221878	ENSG00000221878		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	9524	protein-coding gene	gene with protein product		176396	"""pregnancy specific beta-1-glycoprotein 7"""				Standard	NM_002783		Approved		uc010xwl.2	Q13046	OTTHUMG00000151125		19.37:g.43433662G>T						PSG3_uc002ouf.2_Intron|PSG11_uc002ouw.2_Intron|PSG7_uc002ous.1_5'Flank|PSG7_uc002out.1_Missense_Mutation_p.P33H|PSG10_uc002ouv.1_Intron|PSG6_uc002ovh.1_Intron|PSG6_uc002ovi.2_Intron|PSG6_uc010xwk.1_Intron|PSG11_uc002ovk.1_Intron|PSG7_uc010xwl.1_Missense_Mutation_p.P92H	p.P214H	NM_002783	NP_002774	Q13046	PSG7_HUMAN			4	743	-		Prostate(69;0.00682)	214			Ig-like C2-type 1.		Q15232	Missense_Mutation	SNP	ENST00000406070.2	37	c.641C>A																																																																																					PASS	0.512	PSG7-001	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000321431.2	NM_001206650		111	476	111	476	---	---	---	---
PSG2	5670	broad.mit.edu	37	19	43575854	43575854	+	Missense_Mutation	SNP	G	G	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr19:43575854G>A	ENST00000406487.1	-	4	1060	c.962C>T	c.(961-963)tCt>tTt	p.S321F		NM_031246.3	NP_112536.2	P11465	PSG2_HUMAN	pregnancy specific beta-1-glycoprotein 2	321					cell migration (GO:0016477)|female pregnancy (GO:0007565)	extracellular region (GO:0005576)		p.S321F(1)		central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(24)|ovary(1)|pancreas(2)|prostate(6)|stomach(2)|urinary_tract(2)	49		Prostate(69;0.00682)				CCACTTACCAGAGACTTTGAC	0.473																																						uc002ovr.2																			1	Substitution - Missense(1)		lung(1)		0						c.(961-963)TCT>TTT		pregnancy specific beta-1-glycoprotein 2							177.0	182.0	180.0					19																	43575854		2202	4298	6500	SO:0001583	missense	5670				cell migration|female pregnancy	extracellular region		g.chr19:43575854G>A		CCDS12616.1	19q13.1-q13.2	2013-01-29			ENSG00000242221	ENSG00000242221		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	9519	protein-coding gene	gene with protein product	"""pregnancy-specific beta-1 glycoprotein"", ""pregnancy-specific beta-1-glycoprotein 7"", ""carcinoembryonic antigen SG8"""	176391		PSBG2		2377620	Standard	NM_031246		Approved	PSGGB, PSG1, CEA	uc002ovr.3	P11465	OTTHUMG00000151547	ENST00000406487.1:c.962C>T	19.37:g.43575854G>A	ENSP00000385706:p.Ser321Phe					PSG6_uc002ovi.2_Intron|PSG6_uc010xwk.1_Intron|PSG2_uc002ovq.3_Missense_Mutation_p.S321F|PSG2_uc010eiq.1_Missense_Mutation_p.S321F|PSG2_uc002ovs.3_Missense_Mutation_p.S321F|PSG2_uc002ovt.3_Missense_Mutation_p.S321F	p.S321F	NM_031246	NP_112536	P11465	PSG2_HUMAN			4	1055	-		Prostate(69;0.00682)	321					Q8TCD9|Q9UEA4|Q9UQ78	Missense_Mutation	SNP	ENST00000406487.1	37	c.962C>T	CCDS12616.1	.	.	.	.	.	.	.	.	.	.	g	8.014	0.758116	0.15846	.	.	ENSG00000242221	ENST00000406487;ENST00000329509;ENST00000401942;ENST00000406917	T	0.33865	1.39	1.26	-0.298	0.12814	Immunoglobulin-like fold (1);	.	.	.	.	T	0.30978	0.0782	L	0.54323	1.7	0.09310	N	0.999998	B;B	0.28850	0.225;0.138	B;B	0.40134	0.32;0.102	T	0.40175	-0.9577	9	0.09084	T	0.74	.	3.8398	0.08909	0.0:0.0:0.578:0.422	.	321;321	B5MCM8;P11465	.;PSG2_HUMAN	F	321	ENSP00000385706:S321F	ENSP00000332984:S321F	S	-	2	0	PSG2	48267694	0.000000	0.05858	0.422000	0.26621	0.166000	0.22503	-1.368000	0.02580	0.659000	0.30945	0.398000	0.26397	TCT		PASS	0.473	PSG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323083.1	NM_031246		65	276	65	276	---	---	---	---
XRCC1	7515	broad.mit.edu	37	19	44065074	44065074	+	Missense_Mutation	SNP	C	C	G			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr19:44065074C>G	ENST00000262887.5	-	3	790	c.243G>C	c.(241-243)gaG>gaC	p.E81D	XRCC1_ENST00000543982.1_Missense_Mutation_p.E50D|L34079.2_ENST00000594374.1_Missense_Mutation_p.A90P			P18887	XRCC1_HUMAN	X-ray repair complementing defective repair in Chinese hamster cells 1	81					base-excision repair (GO:0006284)|DNA repair (GO:0006281)|hippocampus development (GO:0021766)|response to drug (GO:0042493)|response to hypoxia (GO:0001666)|response to organic substance (GO:0010033)|single strand break repair (GO:0000012)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	damaged DNA binding (GO:0003684)	p.E81D(1)		breast(2)|endometrium(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		Prostate(69;0.0153)				CATAGTCTTGCTCCCCAGCGC	0.582								Other BER factors																														uc002owt.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|lung(2)|large_intestine(1)|prostate(1)|breast(1)	7						c.(241-243)GAG>GAC	Other_BER_factors	X-ray repair cross complementing protein 1							241.0	175.0	197.0					19																	44065074		2203	4300	6503	SO:0001583	missense	7515				base-excision repair|single strand break repair	nucleoplasm	damaged DNA binding|protein binding	g.chr19:44065074C>G	M36089	CCDS12624.1	19q13.2	2014-09-17				ENSG00000073050			12828	protein-coding gene	gene with protein product		194360		RCC		2247054	Standard	NM_006297		Approved		uc002owt.2	P18887		ENST00000262887.5:c.243G>C	19.37:g.44065074C>G	ENSP00000262887:p.Glu81Asp					XRCC1_uc010xwp.1_Missense_Mutation_p.E50D	p.E81D	NM_006297	NP_006288	P18887	XRCC1_HUMAN			3	363	-		Prostate(69;0.0153)	81					Q6IBS4|Q9HCB1	Missense_Mutation	SNP	ENST00000262887.5	37	c.243G>C	CCDS12624.1	.	.	.	.	.	.	.	.	.	.	c	11.24	1.580017	0.28180	.	.	ENSG00000073050	ENST00000458471;ENST00000262887;ENST00000543982;ENST00000538738	T;T	0.17213	2.29;2.29	4.96	3.92	0.45320	DNA-repair protein Xrcc1, N-terminal (1);Galactose-binding domain-like (1);	0.103412	0.64402	D	0.000004	T	0.06462	0.0166	N	0.02357	-0.585	0.34089	D	0.660457	B;B	0.09022	0.002;0.001	B;B	0.13407	0.009;0.001	T	0.22208	-1.0223	10	0.14656	T	0.56	-28.2841	10.9959	0.47575	0.0:0.9045:0.0:0.0955	.	50;81	F5H8D7;P18887	.;XRCC1_HUMAN	D	95;81;50;81	ENSP00000262887:E81D;ENSP00000443671:E50D	ENSP00000262887:E81D	E	-	3	2	XRCC1	48756914	1.000000	0.71417	1.000000	0.80357	0.925000	0.55904	0.509000	0.22707	1.383000	0.46405	0.645000	0.84053	GAG		PASS	0.582	XRCC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463194.1	NM_006297		109	174	109	174	---	---	---	---
ZNF283	284349	broad.mit.edu	37	19	44352080	44352080	+	Missense_Mutation	SNP	G	G	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr19:44352080G>T	ENST00000324461.7	+	7	1624	c.1327G>T	c.(1327-1329)Ggc>Tgc	p.G443C	ZNF283_ENST00000588797.1_Missense_Mutation_p.G304C	NM_181845.1	NP_862828.1	Q8N7M2	ZN283_HUMAN	zinc finger protein 283	443					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.G443C(1)		endometrium(1)|large_intestine(3)|lung(4)	8		Prostate(69;0.0352)				CTTTAGTCGTGGCTATCACCT	0.388																																						uc002oxr.3																			1	Substitution - Missense(1)		lung(1)		0						c.(1327-1329)GGC>TGC		zinc finger protein 283							75.0	84.0	81.0					19																	44352080		2197	4296	6493	SO:0001583	missense	284349				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:44352080G>T	AK098175	CCDS46097.1, CCDS74387.1	19q13.31	2013-01-08			ENSG00000167637	ENSG00000167637		"""Zinc fingers, C2H2-type"", ""-"""	13077	protein-coding gene	gene with protein product						12743021	Standard	NM_181845		Approved		uc002oxr.4	Q8N7M2		ENST00000324461.7:c.1327G>T	19.37:g.44352080G>T	ENSP00000327314:p.Gly443Cys					ZNF283_uc002oxp.3_Missense_Mutation_p.G304C	p.G443C	NM_181845	NP_862828	Q8N7M2	ZN283_HUMAN			7	1595	+		Prostate(69;0.0352)	443			C2H2-type 9.		B4DGZ5|B7WP04|Q6RFR9|Q86WM6	Missense_Mutation	SNP	ENST00000324461.7	37	c.1327G>T	CCDS46097.1	.	.	.	.	.	.	.	.	.	.	G	5.543	0.285075	0.10513	.	.	ENSG00000167637	ENST00000324461	T	0.07800	3.16	2.74	1.7	0.24286	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.08846	0.0219	N	0.11789	0.175	0.19300	N	0.99998	D	0.69078	0.997	P	0.61592	0.891	T	0.33059	-0.9883	9	0.38643	T	0.18	.	3.5859	0.07970	0.4149:0.0:0.5851:0.0	.	443	Q8N7M2	ZN283_HUMAN	C	443	ENSP00000327314:G443C	ENSP00000327314:G443C	G	+	1	0	ZNF283	49043920	0.001000	0.12720	0.227000	0.23927	0.010000	0.07245	1.101000	0.31037	1.545000	0.49373	0.462000	0.41574	GGC		PASS	0.388	ZNF283-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459909.1	NM_181845		19	108	19	108	---	---	---	---
CKM	1158	broad.mit.edu	37	19	45822880	45822880	+	Missense_Mutation	SNP	G	G	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr19:45822880G>A	ENST00000221476.3	-	2	266	c.92C>T	c.(91-93)gCc>gTc	p.A31V		NM_001824.4	NP_001815.2	P06732	KCRM_HUMAN	creatine kinase, muscle	31	Phosphagen kinase N-terminal. {ECO:0000255|PROSITE-ProRule:PRU00842}.				cellular nitrogen compound metabolic process (GO:0034641)|creatine metabolic process (GO:0006600)|phosphocreatine biosynthetic process (GO:0046314)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	ATP binding (GO:0005524)|creatine kinase activity (GO:0004111)	p.A31V(1)		cervix(1)|endometrium(1)|large_intestine(8)|lung(3)|prostate(2)|skin(2)	17		Ovarian(192;0.0336)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;2.29e-44)|Epithelial(262;1.05e-38)|GBM - Glioblastoma multiforme(486;3.56e-07)	Creatine(DB00148)	CAGTACCTTGGCCATGTGGTT	0.517																																						uc002pbd.2																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(91-93)GCC>GTC		muscle creatine kinase	Creatine(DB00148)						294.0	241.0	259.0					19																	45822880		2203	4300	6503	SO:0001583	missense	1158				creatine metabolic process	cytosol	ATP binding|creatine kinase activity	g.chr19:45822880G>A	M14780	CCDS12659.1	19q13.32	2012-10-02			ENSG00000104879	ENSG00000104879	2.7.3.2		1994	protein-coding gene	gene with protein product		123310		CKMM			Standard	NM_001824		Approved		uc002pbd.4	P06732		ENST00000221476.3:c.92C>T	19.37:g.45822880G>A	ENSP00000221476:p.Ala31Val						p.A31V	NM_001824	NP_001815	P06732	KCRM_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;2.29e-44)|Epithelial(262;1.05e-38)|GBM - Glioblastoma multiforme(486;3.56e-07)	2	166	-		Ovarian(192;0.0336)|all_neural(266;0.112)	31			Phosphagen kinase N-terminal.		Q96QL9	Missense_Mutation	SNP	ENST00000221476.3	37	c.92C>T	CCDS12659.1	.	.	.	.	.	.	.	.	.	.	G	33	5.276114	0.95459	.	.	ENSG00000104879	ENST00000221476	T	0.66099	-0.19	4.6	4.6	0.57074	ATP:guanido phosphotransferase, N-terminal (4);	0.056622	0.64402	D	0.000001	D	0.84831	0.5559	H	0.96604	3.85	0.80722	D	1	D	0.76494	0.999	D	0.66497	0.944	D	0.90227	0.4276	10	0.87932	D	0	-42.1946	15.2616	0.73628	0.0:0.0:1.0:0.0	.	31	P06732	KCRM_HUMAN	V	31	ENSP00000221476:A31V	ENSP00000221476:A31V	A	-	2	0	CKM	50514720	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	9.781000	0.99029	2.278000	0.76064	0.591000	0.81541	GCC		PASS	0.517	CKM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457569.1			46	171	46	171	---	---	---	---
GPR4	2828	broad.mit.edu	37	19	46094288	46094288	+	Silent	SNP	A	A	G			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr19:46094288A>G	ENST00000323040.4	-	2	1781	c.837T>C	c.(835-837)tgT>tgC	p.C279C	OPA3_ENST00000544371.1_Intron|GPR4_ENST00000591614.1_5'Flank	NM_005282.2	NP_005273.1	P46093	GPR4_HUMAN	G protein-coupled receptor 4	279					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)	p.C279C(1)		breast(2)|endometrium(1)|kidney(3)|large_intestine(1)|lung(11)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23				OV - Ovarian serous cystadenocarcinoma(262;0.0071)|GBM - Glioblastoma multiforme(486;0.128)|Epithelial(262;0.223)		GGTCCGCCACACAGTTGAGGC	0.652																																					Esophageal Squamous(117;181 1612 1673 14956 42937)	uc002pcm.2																			1	Substitution - coding silent(1)		lung(1)	ovary(2)	2						c.(835-837)TGT>TGC		G protein-coupled receptor 4							41.0	44.0	43.0					19																	46094288		2203	4300	6503	SO:0001819	synonymous_variant	2828					integral to plasma membrane	G-protein coupled receptor activity	g.chr19:46094288A>G	BC067536	CCDS12669.1	19q13.3	2012-08-21				ENSG00000177464		"""GPCR / Class A : Orphans"""	4497	protein-coding gene	gene with protein product		600551				8595909	Standard	NM_005282		Approved		uc002pcm.3	P46093		ENST00000323040.4:c.837T>C	19.37:g.46094288A>G						OPA3_uc010xxk.1_Intron	p.C279C	NM_005282	NP_005273	P46093	GPR4_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.0071)|GBM - Glioblastoma multiforme(486;0.128)|Epithelial(262;0.223)	2	1782	-			279			Helical; Name=7; (Potential).		A8K3T3|B0M0K1|Q6NWM4	Silent	SNP	ENST00000323040.4	37	c.837T>C	CCDS12669.1																																																																																				PASS	0.652	GPR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459603.1	NM_005282		25	38	25	38	---	---	---	---
SYMPK	8189	broad.mit.edu	37	19	46328429	46328429	+	Splice_Site	SNP	C	C	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr19:46328429C>A	ENST00000245934.7	-	18	2734	c.2490G>T	c.(2488-2490)ccG>ccT	p.P830P	SYMPK_ENST00000598155.1_5'Flank	NM_004819.2	NP_004810.2	Q92797	SYMPK_HUMAN	symplekin	830					cell adhesion (GO:0007155)|mRNA polyadenylation (GO:0006378)|positive regulation of protein dephosphorylation (GO:0035307)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|tight junction (GO:0005923)		p.P830P(2)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(25)|ovary(1)|urinary_tract(1)	45		all_neural(266;0.0299)|Ovarian(192;0.0308)		OV - Ovarian serous cystadenocarcinoma(262;0.00509)|GBM - Glioblastoma multiforme(486;0.0593)		GGGGCCTCACCGGCTGCTCAA	0.642																																						uc002pdn.2																			2	Substitution - coding silent(2)		lung(2)	ovary(1)	1						c.(2488-2490)CCG>CCT		symplekin							91.0	76.0	81.0					19																	46328429		2203	4300	6503	SO:0001630	splice_region_variant	8189				cell adhesion|mRNA processing	cytoplasm|cytoskeleton|nucleoplasm|tight junction	protein binding	g.chr19:46328429C>A	U49240	CCDS12676.2	19q13.3	2008-02-05			ENSG00000125755	ENSG00000125755			22935	protein-coding gene	gene with protein product		602388				9330635	Standard	NM_004819		Approved	SYM, SPK	uc002pdn.3	Q92797	OTTHUMG00000150151	ENST00000245934.7:c.2490+1G>T	19.37:g.46328429C>A						SYMPK_uc002pdo.1_Silent_p.P830P|SYMPK_uc002pdp.1_Silent_p.P830P	p.P830P	NM_004819	NP_004810	Q92797	SYMPK_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00509)|GBM - Glioblastoma multiforme(486;0.0593)	18	2735	-		all_neural(266;0.0299)|Ovarian(192;0.0308)	830					O00521|O00689|O00733|Q59GT5|Q8N2U5	Silent	SNP	ENST00000245934.7	37	c.2490G>T	CCDS12676.2																																																																																				PASS	0.642	SYMPK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316581.1	NM_004819	Silent	55	42	55	42	---	---	---	---
SYMPK	8189	broad.mit.edu	37	19	46332347	46332347	+	Missense_Mutation	SNP	C	C	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr19:46332347C>A	ENST00000245934.7	-	14	2110	c.1866G>T	c.(1864-1866)tgG>tgT	p.W622C	AC092301.3_ENST00000601618.1_RNA	NM_004819.2	NP_004810.2	Q92797	SYMPK_HUMAN	symplekin	622					cell adhesion (GO:0007155)|mRNA polyadenylation (GO:0006378)|positive regulation of protein dephosphorylation (GO:0035307)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|tight junction (GO:0005923)		p.W622C(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(25)|ovary(1)|urinary_tract(1)	45		all_neural(266;0.0299)|Ovarian(192;0.0308)		OV - Ovarian serous cystadenocarcinoma(262;0.00509)|GBM - Glioblastoma multiforme(486;0.0593)		CCTGGTAGAGCCAGGCGAAGG	0.642																																						uc002pdn.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1864-1866)TGG>TGT		symplekin							66.0	63.0	64.0					19																	46332347		2203	4300	6503	SO:0001583	missense	8189				cell adhesion|mRNA processing	cytoplasm|cytoskeleton|nucleoplasm|tight junction	protein binding	g.chr19:46332347C>A	U49240	CCDS12676.2	19q13.3	2008-02-05			ENSG00000125755	ENSG00000125755			22935	protein-coding gene	gene with protein product		602388				9330635	Standard	NM_004819		Approved	SYM, SPK	uc002pdn.3	Q92797	OTTHUMG00000150151	ENST00000245934.7:c.1866G>T	19.37:g.46332347C>A	ENSP00000245934:p.Trp622Cys					SYMPK_uc002pdo.1_Missense_Mutation_p.W622C|SYMPK_uc002pdp.1_Missense_Mutation_p.W622C	p.W622C	NM_004819	NP_004810	Q92797	SYMPK_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00509)|GBM - Glioblastoma multiforme(486;0.0593)	14	2111	-		all_neural(266;0.0299)|Ovarian(192;0.0308)	622					O00521|O00689|O00733|Q59GT5|Q8N2U5	Missense_Mutation	SNP	ENST00000245934.7	37	c.1866G>T	CCDS12676.2	.	.	.	.	.	.	.	.	.	.	C	13.84	2.358645	0.41801	.	.	ENSG00000125755	ENST00000245934	.	.	.	4.94	4.94	0.65067	Armadillo-type fold (1);	0.074050	0.56097	D	0.000029	T	0.53722	0.1814	L	0.47016	1.485	0.80722	D	1	P;B	0.45634	0.863;0.256	B;B	0.41440	0.357;0.151	T	0.60850	-0.7181	9	0.62326	D	0.03	.	15.7509	0.77986	0.0:1.0:0.0:0.0	.	637;622	Q4LE61;Q92797	.;SYMPK_HUMAN	C	622	.	ENSP00000245934:W622C	W	-	3	0	SYMPK	51024187	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	3.779000	0.55379	2.312000	0.78011	0.456000	0.33151	TGG		PASS	0.642	SYMPK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316581.1	NM_004819		47	74	47	74	---	---	---	---
CCDC8	83987	broad.mit.edu	37	19	46914865	46914865	+	Silent	SNP	T	T	C			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr19:46914865T>C	ENST00000307522.3	-	1	1976	c.1203A>G	c.(1201-1203)tcA>tcG	p.S401S		NM_032040.4	NP_114429.2	Q9H0W5	CCDC8_HUMAN	coiled-coil domain containing 8	401					microtubule cytoskeleton organization (GO:0000226)|negative regulation of phosphatase activity (GO:0010923)|regulation of mitosis (GO:0007088)	3M complex (GO:1990393)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)		p.S401S(1)		breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	23				OV - Ovarian serous cystadenocarcinoma(262;4.66e-05)|all cancers(93;0.000582)|Epithelial(262;0.00428)|GBM - Glioblastoma multiforme(486;0.0421)		CTGTAACCTCTGACCCCTGGT	0.607																																						uc002pep.2																			1	Substitution - coding silent(1)		lung(1)	ovary(3)	3						c.(1201-1203)TCA>TCG		coiled-coil domain containing 8							118.0	107.0	111.0					19																	46914865		2203	4300	6503	SO:0001819	synonymous_variant	83987					plasma membrane		g.chr19:46914865T>C	BC025243	CCDS12685.1	19q13.33	2012-04-17			ENSG00000169515	ENSG00000169515		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	25367	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 20"""	614145				11230166	Standard	NM_032040		Approved	DKFZp564K0322, 3M3, PPP1R20	uc002pep.3	Q9H0W5	OTTHUMG00000162348	ENST00000307522.3:c.1203A>G	19.37:g.46914865T>C							p.S401S	NM_032040	NP_114429	Q9H0W5	CCDC8_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;4.66e-05)|all cancers(93;0.000582)|Epithelial(262;0.00428)|GBM - Glioblastoma multiforme(486;0.0421)	1	2055	-			401					Q8TB26	Silent	SNP	ENST00000307522.3	37	c.1203A>G	CCDS12685.1	.	.	.	.	.	.	.	.	.	.	T	7.714	0.695660	0.15106	.	.	ENSG00000169515	ENST00000540252	.	.	.	3.33	2.31	0.28768	.	.	.	.	.	T	0.32285	0.0824	.	.	.	0.25054	N	0.991113	.	.	.	.	.	.	T	0.21245	-1.0251	5	0.27785	T	0.31	-0.552	6.8735	0.24133	0.0:0.1179:0.0:0.8821	.	.	.	.	R	248	.	ENSP00000441180:Q248R	Q	-	2	0	CCDC8	51606705	0.000000	0.05858	0.006000	0.13384	0.201000	0.24016	-0.417000	0.07088	0.654000	0.30846	0.260000	0.18958	CAG		PASS	0.607	CCDC8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368598.1	NM_032040		40	144	40	144	---	---	---	---
DHX34	9704	broad.mit.edu	37	19	47858496	47858496	+	Silent	SNP	G	G	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr19:47858496G>T	ENST00000328771.4	+	3	1255	c.906G>T	c.(904-906)cgG>cgT	p.R302R		NM_014681.5	NP_055496.2	Q14147	DHX34_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 34	302	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				negative regulation of nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:2000623)|nuclear-transcribed mRNA catabolic process (GO:0000956)	membrane (GO:0016020)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)	p.R302R(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(8)|ovary(5)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36		all_cancers(25;1.65e-09)|all_epithelial(76;9.95e-08)|all_lung(116;7.27e-07)|Lung NSC(112;1.6e-06)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503)		all cancers(93;7.16e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000489)|GBM - Glioblastoma multiforme(486;0.00413)|Epithelial(262;0.0132)		TGCCCACGCGGCCTGACCTCA	0.587																																						uc010xyn.1																			1	Substitution - coding silent(1)		lung(1)	ovary(4)|upper_aerodigestive_tract(1)	5						c.(904-906)CGG>CGT		DEAH (Asp-Glu-Ala-His) box polypeptide 34							138.0	121.0	127.0					19																	47858496		2203	4300	6503	SO:0001819	synonymous_variant	9704					intracellular	ATP binding|ATP-dependent helicase activity|RNA binding|zinc ion binding	g.chr19:47858496G>T	D50924	CCDS12700.1	19q13.3	2003-06-13	2003-06-13	2003-06-13	ENSG00000134815	ENSG00000134815		"""DEAH-boxes"""	16719	protein-coding gene	gene with protein product		615475	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 34"""	DDX34		10708517, 8590280	Standard	NM_014681		Approved	KIAA0134	uc010xyn.2	Q14147	OTTHUMG00000149959	ENST00000328771.4:c.906G>T	19.37:g.47858496G>T						DHX34_uc010elc.1_Silent_p.R302R	p.R302R	NM_014681	NP_055496	Q14147	DHX34_HUMAN		all cancers(93;7.16e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000489)|GBM - Glioblastoma multiforme(486;0.00413)|Epithelial(262;0.0132)	3	1247	+		all_cancers(25;1.65e-09)|all_epithelial(76;9.95e-08)|all_lung(116;7.27e-07)|Lung NSC(112;1.6e-06)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503)	302			Helicase ATP-binding.		B4DMY8	Silent	SNP	ENST00000328771.4	37	c.906G>T	CCDS12700.1																																																																																				PASS	0.587	DHX34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000314313.3	NM_014681		102	127	102	127	---	---	---	---
CABP5	56344	broad.mit.edu	37	19	48547117	48547117	+	Splice_Site	SNP	C	C	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr19:48547117C>A	ENST00000293255.2	-	1	193	c.63G>T	c.(61-63)cgG>cgT	p.R21R		NM_019855.4	NP_062829.1	Q9NP86	CABP5_HUMAN	calcium binding protein 5	21					signal transduction (GO:0007165)	cytosol (GO:0005829)	calcium ion binding (GO:0005509)	p.R21R(1)		endometrium(1)|large_intestine(3)|lung(3)|prostate(2)|skin(2)	11		all_cancers(25;1.86e-08)|all_lung(116;1.14e-06)|all_epithelial(76;1.16e-06)|Lung NSC(112;2.54e-06)|all_neural(266;0.0138)|Ovarian(192;0.0261)|Breast(70;0.203)		OV - Ovarian serous cystadenocarcinoma(262;4.09e-05)|all cancers(93;0.000322)|Epithelial(262;0.01)|GBM - Glioblastoma multiforme(486;0.058)		cccacctcacccGCTGTTTCT	0.632																																						uc002phu.1																			1	Substitution - coding silent(1)		lung(1)	skin(1)	1						c.(61-63)CGG>CGT		calcium binding protein 5							37.0	35.0	36.0					19																	48547117		2203	4300	6503	SO:0001630	splice_region_variant	56344				signal transduction	cytoplasm	calcium ion binding	g.chr19:48547117C>A	AF169159	CCDS12709.1	19q13.33	2014-08-12			ENSG00000105507	ENSG00000105507		"""EF-hand domain containing"""	13714	protein-coding gene	gene with protein product		607315	"""calcium binding protein 3"""	CABP3		10625670	Standard	NM_019855		Approved	CaBP3	uc002phu.2	Q9NP86	OTTHUMG00000183139	ENST00000293255.2:c.63+1G>T	19.37:g.48547117C>A							p.R21R	NM_019855	NP_062829	Q9NP86	CABP5_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;4.09e-05)|all cancers(93;0.000322)|Epithelial(262;0.01)|GBM - Glioblastoma multiforme(486;0.058)	1	188	-		all_cancers(25;1.86e-08)|all_lung(116;1.14e-06)|all_epithelial(76;1.16e-06)|Lung NSC(112;2.54e-06)|all_neural(266;0.0138)|Ovarian(192;0.0261)|Breast(70;0.203)	21					A0AUY4	Silent	SNP	ENST00000293255.2	37	c.63G>T	CCDS12709.1																																																																																				PASS	0.632	CABP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465212.1	NM_019855	Silent	28	32	28	32	---	---	---	---
C19orf73	55150	broad.mit.edu	37	19	49622256	49622256	+	Missense_Mutation	SNP	T	T	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr19:49622256T>A	ENST00000408991.2	-	1	141	c.24A>T	c.(22-24)caA>caT	p.Q8H	PPFIA3_ENST00000334186.4_5'Flank	NM_018111.2	NP_060581.2	Q9NVV2	CS073_HUMAN	chromosome 19 open reading frame 73	8								p.Q8H(2)		large_intestine(1)|lung(2)	3						AGCCCCCGCCTTGAAATCCAA	0.706																																						uc002pmq.3																			2	Substitution - Missense(2)		lung(2)	large_intestine(1)	1						c.(22-24)CAA>CAT		hypothetical protein LOC55150							31.0	34.0	33.0					19																	49622256		1941	4116	6057	SO:0001583	missense	55150							g.chr19:49622256T>A	AK001352	CCDS42589.1	19q13.33	2013-06-17			ENSG00000221916	ENSG00000221916			25534	protein-coding gene	gene with protein product						12477932	Standard	NM_018111		Approved	FLJ10490	uc002pmq.4	Q9NVV2	OTTHUMG00000183345	ENST00000408991.2:c.24A>T	19.37:g.49622256T>A	ENSP00000386230:p.Gln8His					PPFIA3_uc002pmr.2_5'Flank|PPFIA3_uc010yai.1_5'Flank	p.Q8H	NM_018111	NP_060581	Q9NVV2	CS073_HUMAN			1	142	-			8					Q6NSX4	Missense_Mutation	SNP	ENST00000408991.2	37	c.24A>T	CCDS42589.1	.	.	.	.	.	.	.	.	.	.	T	7.753	0.703689	0.15172	.	.	ENSG00000221916	ENST00000408991	T	0.53206	0.63	3.37	2.29	0.28610	.	.	.	.	.	T	0.26011	0.0634	N	0.08118	0	0.09310	N	1	B	0.11235	0.004	B	0.04013	0.001	T	0.20075	-1.0286	9	0.87932	D	0	.	6.4347	0.21817	0.0:0.0:0.2526:0.7474	.	8	Q9NVV2	CS073_HUMAN	H	8	ENSP00000386230:Q8H	ENSP00000386230:Q8H	Q	-	3	2	C19orf73	54314068	0.097000	0.21791	0.010000	0.14722	0.551000	0.35334	0.349000	0.20055	0.635000	0.30488	0.459000	0.35465	CAA		PASS	0.706	C19orf73-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466275.1	NM_018111		19	59	19	59	---	---	---	---
TSKS	60385	broad.mit.edu	37	19	50266502	50266502	+	Start_Codon_SNP	SNP	C	C	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr19:50266502C>A	ENST00000246801.3	-	1	85	c.3G>T	c.(1-3)atG>atT	p.M1I	RNU6-841P_ENST00000383872.1_RNA	NM_021733.1	NP_068379.1	Q9UJT2	TSKS_HUMAN	testis-specific serine kinase substrate	1					negative regulation of phosphatase activity (GO:0010923)	centriole (GO:0005814)	protein kinase binding (GO:0019901)	p.M1I(1)		breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(12)|liver(1)|lung(9)|prostate(3)|skin(3)	38		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.00153)|GBM - Glioblastoma multiforme(134;0.0145)		CCACGCTCGCCATGGTGTGGG	0.637																																						uc002ppm.2																			1	Substitution - Missense(1)		lung(1)	large_intestine(1)|skin(1)	2						c.(1-3)ATG>ATT		testis-specific kinase substrate							47.0	49.0	48.0					19																	50266502		2203	4300	6503	SO:0001582	initiator_codon_variant	60385						protein binding	g.chr19:50266502C>A	BC058862	CCDS12780.1	19q13.3	2014-06-13							30719	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 161"""	608253				11444856, 18495105	Standard	NM_021733		Approved	TSSKS, PPP1R161	uc002ppm.3	Q9UJT2		ENST00000246801.3:c.3G>T	19.37:g.50266502C>A	ENSP00000246801:p.Met1Ile						p.M1I	NM_021733	NP_068379	Q9UJT2	TSKS_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00153)|GBM - Glioblastoma multiforme(134;0.0145)	1	14	-		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)	1					Q8WXJ0	Missense_Mutation	SNP	ENST00000246801.3	37	c.3G>T	CCDS12780.1	.	.	.	.	.	.	.	.	.	.	C	17.03	3.285567	0.59867	.	.	ENSG00000126467	ENST00000246801	T	0.38401	1.14	4.73	4.73	0.59995	.	0.000000	0.49305	D	0.000147	T	0.58722	0.2142	.	.	.	0.80722	D	1	P	0.48294	0.908	D	0.64144	0.922	T	0.63642	-0.6591	9	0.87932	D	0	-25.7947	14.6269	0.68626	0.0:1.0:0.0:0.0	.	1	Q9UJT2	TSKS_HUMAN	I	1	ENSP00000246801:M1I	ENSP00000246801:M1I	M	-	3	0	TSKS	54958314	1.000000	0.71417	1.000000	0.80357	0.421000	0.31385	4.151000	0.58105	2.192000	0.70111	0.467000	0.42956	ATG		PASS	0.637	TSKS-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000465795.1	NM_021733	Missense_Mutation	39	121	39	121	---	---	---	---
KLK3	354	broad.mit.edu	37	19	51361523	51361523	+	Missense_Mutation	SNP	G	G	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr19:51361523G>T	ENST00000326003.2	+	3	486	c.445G>T	c.(445-447)Ggg>Tgg	p.G149W	KLK3_ENST00000360617.3_Missense_Mutation_p.G149W|KLK3_ENST00000593997.1_Missense_Mutation_p.G149W|KLK3_ENST00000595952.1_Missense_Mutation_p.G106W|KLK3_ENST00000597483.1_Missense_Mutation_p.G106W	NM_001030047.1|NM_001030048.1|NM_001648.2	NP_001025218.1|NP_001025219.1|NP_001639.1	P07288	KLK3_HUMAN	kallikrein-related peptidase 3	149	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				cellular protein metabolic process (GO:0044267)|negative regulation of angiogenesis (GO:0016525)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)	p.G149W(2)		breast(1)|cervix(2)|kidney(2)|large_intestine(1)|lung(10)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00763)|GBM - Glioblastoma multiforme(134;0.0144)		GCCAGCACTGGGGACCACCTG	0.652																																					Colon(185;1767 2023 13025 30120 37630)	uc002pts.1																			2	Substitution - Missense(2)		lung(2)	upper_aerodigestive_tract(1)|ovary(1)|kidney(1)	3						c.(445-447)GGG>TGG		prostate specific antigen isoform 3							57.0	53.0	55.0					19																	51361523		2203	4300	6503	SO:0001583	missense	354				negative regulation of angiogenesis|proteolysis	extracellular region	serine-type endopeptidase activity	g.chr19:51361523G>T	X14810	CCDS12807.1, CCDS33083.1, CCDS46155.1	19q13.41	2012-10-02	2006-10-27			ENSG00000142515		"""Kallikreins"""	6364	protein-coding gene	gene with protein product		176820	"""kallikrein 3, (prostate specific antigen)"""	APS		2456523, 2436946, 16800724, 16800723	Standard	NM_001648		Approved	PSA	uc021uyi.1	P07288		ENST00000326003.2:c.445G>T	19.37:g.51361523G>T	ENSP00000314151:p.Gly149Trp					KLK3_uc010ycj.1_Intron|KLK3_uc002ptr.1_Missense_Mutation_p.G106W|KLK3_uc010eof.1_RNA	p.G149W	NM_001030047	NP_001025218	P07288	KLK3_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00763)|GBM - Glioblastoma multiforme(134;0.0144)	3	486	+		all_neural(266;0.057)	149			Peptidase S1.		C9JXH3|G3V0H4|G3XAE3|Q15096|Q16272|Q86TG8|Q8IXI4	Missense_Mutation	SNP	ENST00000326003.2	37	c.445G>T	CCDS12807.1	.	.	.	.	.	.	.	.	.	.	G	13.62	2.292269	0.40594	.	.	ENSG00000142515	ENST00000326003;ENST00000422986;ENST00000360617	D;D	0.91295	-2.82;-2.82	2.31	1.23	0.21249	.	0.000000	0.39475	N	0.001348	D	0.94899	0.8351	M	0.90309	3.105	0.80722	D	1	D;D	0.89917	0.998;1.0	D;D	0.97110	0.975;1.0	D	0.93501	0.6844	10	0.87932	D	0	.	8.2075	0.31465	0.0:0.0:0.7599:0.2401	.	149;106	G3XAE3;G3V0H4	.;.	W	149;106;149	ENSP00000314151:G149W;ENSP00000353829:G149W	ENSP00000314151:G149W	G	+	1	0	KLK3	56053335	0.931000	0.31567	0.029000	0.17559	0.013000	0.08279	3.202000	0.51067	0.499000	0.27970	0.505000	0.49811	GGG		PASS	0.652	KLK3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464067.1	NM_145864		34	46	34	46	---	---	---	---
SIGLECL1	284369	broad.mit.edu	37	19	51770668	51770668	+	Missense_Mutation	SNP	C	C	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr19:51770668C>T	ENST00000316401.7	+	5	833	c.452C>T	c.(451-453)gCg>gTg	p.A151V	SIGLECL1_ENST00000593968.1_3'UTR|CTD-3187F8.2_ENST00000597569.1_RNA|SIGLECL1_ENST00000597824.1_Missense_Mutation_p.A57V	NM_173635.1	NP_775906.1	Q96PQ1	SIG12_HUMAN	SIGLEC family like 1	515	Ig-like V-type 2.				cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)	p.A151V(1)									AAAGCTGCAGCGATCAGAGCA	0.468																																						uc002pwb.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|pancreas(1)	2						c.(451-453)GCG>GTG		hypothetical protein LOC284369							118.0	118.0	118.0					19																	51770668		2203	4300	6503	SO:0001583	missense	284369					integral to membrane		g.chr19:51770668C>T	AK097554	CCDS12827.1	19q13.33	2013-03-20	2012-07-20	2012-07-20	ENSG00000179213	ENSG00000179213			26856	protein-coding gene	gene with protein product			"""chromosome 19 open reading frame 75"", ""sialic acid binding Ig-like lectin 23, pseudogene"", ""sialic acid binding Ig-like lectin, pseudogene 7"""	C19orf75, SIGLEC23P, SIGLECP7			Standard	NM_173635		Approved	FLJ40235	uc002pwb.1	Q8N7X8	OTTHUMG00000182881	ENST00000316401.7:c.452C>T	19.37:g.51770668C>T	ENSP00000321249:p.Ala151Val					C19orf75_uc010eov.1_RNA|C19orf75_uc010ycw.1_Missense_Mutation_p.A57V	p.A151V	NM_173635	NP_775906	Q8N7X8	CS075_HUMAN			5	833	+			151					Q8IYH7	Missense_Mutation	SNP	ENST00000316401.7	37	c.452C>T	CCDS12827.1	.	.	.	.	.	.	.	.	.	.	C	9.309	1.055026	0.19907	.	.	ENSG00000179213	ENST00000316401	T	0.38722	1.12	3.52	-4.34	0.03666	.	.	.	.	.	T	0.24275	0.0588	L	0.53249	1.67	0.09310	N	1	B;B	0.34181	0.44;0.389	B;B	0.22386	0.027;0.039	T	0.14980	-1.0453	9	0.29301	T	0.29	.	0.9243	0.01321	0.4589:0.2:0.1266:0.2145	.	57;151	B7ZLS6;Q8N7X8	.;CS075_HUMAN	V	151	ENSP00000321249:A151V	ENSP00000321249:A151V	A	+	2	0	C19orf75	56462480	0.000000	0.05858	0.000000	0.03702	0.165000	0.22458	-0.835000	0.04386	-0.811000	0.04369	0.650000	0.86243	GCG		PASS	0.468	SIGLECL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464161.2	NM_173635		34	171	34	171	---	---	---	---
SIGLEC12	89858	broad.mit.edu	37	19	52003232	52003232	+	Silent	SNP	C	C	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr19:52003232C>A	ENST00000291707.3	-	2	805	c.750G>T	c.(748-750)gtG>gtT	p.V250V	SIGLEC12_ENST00000598614.1_Silent_p.V132V	NM_053003.2	NP_443729.1	Q96PQ1	SIG12_HUMAN	sialic acid binding Ig-like lectin 12 (gene/pseudogene)	250	Ig-like V-type 2.				cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)	p.V250V(1)		NS(2)|biliary_tract(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(8)|liver(1)|lung(23)|ovary(4)|prostate(2)|skin(8)|stomach(3)|upper_aerodigestive_tract(2)	61		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.00161)|OV - Ovarian serous cystadenocarcinoma(262;0.0102)		TTCCTCTCTCCACCTGGAAGT	0.537																																						uc002pwx.1																			1	Substitution - coding silent(1)		lung(1)	ovary(3)|skin(2)	5						c.(748-750)GTG>GTT		sialic acid binding immunoglobulin-like							101.0	87.0	92.0					19																	52003232		2203	4300	6503	SO:0001819	synonymous_variant	89858				cell adhesion	integral to membrane	sugar binding	g.chr19:52003232C>A	AF282256	CCDS12833.1, CCDS59416.1	19q13.41	2013-01-29	2011-06-29	2004-10-20	ENSG00000254521	ENSG00000254521		"""Sialic acid binding Ig-like lectins"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	15482	protein-coding gene	gene with protein product		606094	"""SIGLEC-like 1"", ""sialic acid binding Ig-like lectin 12"""	SIGLECL1		11409877, 11328818, 21555517	Standard	NM_053003		Approved	SLG, S2V, Siglec-XII, Siglec-12, Siglec-L1	uc002pwx.1	Q96PQ1	OTTHUMG00000165524	ENST00000291707.3:c.750G>T	19.37:g.52003232C>A						SIGLEC12_uc002pww.1_Silent_p.V132V|SIGLEC12_uc010eoy.1_5'UTR	p.V250V	NM_053003	NP_443729	Q96PQ1	SIG12_HUMAN		GBM - Glioblastoma multiforme(134;0.00161)|OV - Ovarian serous cystadenocarcinoma(262;0.0102)	2	806	-		all_neural(266;0.0199)	250			Ig-like V-type 2.|Extracellular (Potential).		Q8IYH7	Silent	SNP	ENST00000291707.3	37	c.750G>T	CCDS12833.1																																																																																				PASS	0.537	SIGLEC12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384641.2	NM_053003		37	115	37	115	---	---	---	---
SIGLEC12	89858	broad.mit.edu	37	19	52004701	52004701	+	Missense_Mutation	SNP	A	A	G			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr19:52004701A>G	ENST00000291707.3	-	1	342	c.287T>C	c.(286-288)cTt>cCt	p.L96P	SIGLEC12_ENST00000598614.1_5'Flank	NM_053003.2	NP_443729.1	Q96PQ1	SIG12_HUMAN	sialic acid binding Ig-like lectin 12 (gene/pseudogene)	96	Ig-like V-type 1.				cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)	p.L96P(1)		NS(2)|biliary_tract(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(8)|liver(1)|lung(23)|ovary(4)|prostate(2)|skin(8)|stomach(3)|upper_aerodigestive_tract(2)	61		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.00161)|OV - Ovarian serous cystadenocarcinoma(262;0.0102)		TGGGTCCCCAAGGAGGTGGAA	0.537																																						uc002pwx.1																			1	Substitution - Missense(1)		lung(1)	ovary(3)|skin(2)	5						c.(286-288)CTT>CCT		sialic acid binding immunoglobulin-like							164.0	145.0	151.0					19																	52004701		2203	4300	6503	SO:0001583	missense	89858				cell adhesion	integral to membrane	sugar binding	g.chr19:52004701A>G	AF282256	CCDS12833.1, CCDS59416.1	19q13.41	2013-01-29	2011-06-29	2004-10-20	ENSG00000254521	ENSG00000254521		"""Sialic acid binding Ig-like lectins"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	15482	protein-coding gene	gene with protein product		606094	"""SIGLEC-like 1"", ""sialic acid binding Ig-like lectin 12"""	SIGLECL1		11409877, 11328818, 21555517	Standard	NM_053003		Approved	SLG, S2V, Siglec-XII, Siglec-12, Siglec-L1	uc002pwx.1	Q96PQ1	OTTHUMG00000165524	ENST00000291707.3:c.287T>C	19.37:g.52004701A>G	ENSP00000291707:p.Leu96Pro					SIGLEC12_uc002pww.1_5'Flank|SIGLEC12_uc010eoy.1_5'UTR	p.L96P	NM_053003	NP_443729	Q96PQ1	SIG12_HUMAN		GBM - Glioblastoma multiforme(134;0.00161)|OV - Ovarian serous cystadenocarcinoma(262;0.0102)	1	343	-		all_neural(266;0.0199)	96			Ig-like V-type 1.|Extracellular (Potential).		Q8IYH7	Missense_Mutation	SNP	ENST00000291707.3	37	c.287T>C	CCDS12833.1	.	.	.	.	.	.	.	.	.	.	.	14.62	2.589587	0.46214	.	.	ENSG00000254521	ENST00000291707	T	0.66099	-0.19	2.42	2.42	0.29668	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.77994	0.4214	M	0.86864	2.845	0.09310	N	0.999997	D	0.89917	1.0	D	0.77004	0.989	T	0.63906	-0.6531	9	0.72032	D	0.01	.	6.4395	0.21841	1.0:0.0:0.0:0.0	.	96	Q96PQ1	SIG12_HUMAN	P	96	ENSP00000291707:L96P	ENSP00000291707:L96P	L	-	2	0	SIGLEC12	56696513	0.000000	0.05858	0.014000	0.15608	0.323000	0.28346	0.186000	0.16978	0.979000	0.38497	0.325000	0.21440	CTT		PASS	0.537	SIGLEC12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384641.2	NM_053003		66	147	66	147	---	---	---	---
SIGLEC14	100049587	broad.mit.edu	37	19	52148737	52148737	+	Silent	SNP	T	T	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr19:52148737T>A	ENST00000360844.6	-	4	788	c.747A>T	c.(745-747)acA>acT	p.T249T	SIGLEC5_ENST00000429354.3_Intron|SIGLEC5_ENST00000599649.1_Intron|SIGLEC5_ENST00000222107.4_Intron|SIGLEC5_ENST00000534261.2_5'UTR	NM_001098612.1	NP_001092082.1	Q08ET2	SIG14_HUMAN	sialic acid binding Ig-like lectin 14	249	Ig-like C2-type 2.				cell adhesion (GO:0007155)|innate immune response (GO:0045087)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)	p.T249T(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|upper_aerodigestive_tract(1)	29		all_neural(266;0.0299)		GBM - Glioblastoma multiforme(134;0.000965)|OV - Ovarian serous cystadenocarcinoma(262;0.0195)		TACCTGTGCCTGTGCCATTTC	0.552																																						uc002pxf.3																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(745-747)ACA>ACT		sialic acid binding Ig-like lectin 14 precursor							161.0	163.0	162.0					19																	52148737		1850	4064	5914	SO:0001819	synonymous_variant	100049587				cell adhesion	integral to membrane|plasma membrane	protein binding|sugar binding	g.chr19:52148737T>A	AY854038	CCDS42604.1	19q13.41	2013-01-29			ENSG00000254415	ENSG00000254415		"""Sialic acid binding Ig-like lectins"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	32926	protein-coding gene	gene with protein product						17012248	Standard	NM_001098612		Approved		uc002pxf.4	Q08ET2	OTTHUMG00000165511	ENST00000360844.6:c.747A>T	19.37:g.52148737T>A							p.T249T	NM_001098612	NP_001092082	Q08ET2	SIG14_HUMAN		GBM - Glioblastoma multiforme(134;0.000965)|OV - Ovarian serous cystadenocarcinoma(262;0.0195)	4	867	-		all_neural(266;0.0299)	249			Extracellular (Potential).|Ig-like C2-type 2.		Q6UXG0	Silent	SNP	ENST00000360844.6	37	c.747A>T	CCDS42604.1																																																																																				PASS	0.552	SIGLEC14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466899.2	NM_001098612		23	147	23	147	---	---	---	---
FPR2	2358	broad.mit.edu	37	19	52272532	52272532	+	Silent	SNP	C	C	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr19:52272532C>A	ENST00000598776.1	+	2	1393	c.621C>A	c.(619-621)gtC>gtA	p.V207V	FPR2_ENST00000598953.1_Silent_p.V207V|FPR2_ENST00000340023.6_Silent_p.V207V	NM_001462.3	NP_001453.1	P25090	FPR2_HUMAN	formyl peptide receptor 2	207					cell adhesion (GO:0007155)|cellular component movement (GO:0006928)|chemotaxis (GO:0006935)|G-protein coupled receptor signaling pathway (GO:0007186)|inflammatory response (GO:0006954)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|N-formyl peptide receptor activity (GO:0004982)	p.V207V(1)		endometrium(2)|kidney(1)|large_intestine(8)|lung(18)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	33						TCCGGTTTGTCATTGGCTTTA	0.507																																						uc002pxr.2																			1	Substitution - coding silent(1)		lung(1)	lung(3)|ovary(1)	4						c.(619-621)GTC>GTA		formyl peptide receptor-like 1							170.0	138.0	149.0					19																	52272532		2203	4300	6503	SO:0001819	synonymous_variant	2358				cell adhesion|cellular component movement|chemotaxis|inflammatory response	integral to membrane|plasma membrane	N-formyl peptide receptor activity	g.chr19:52272532C>A	M88107	CCDS12840.1	19q13.3-q13.4	2012-08-10	2008-04-17	2008-04-17		ENSG00000171049		"""GPCR / Class A : Formyl peptide receptors"", ""GPCR / Class A : Leukotriene receptors"""	3827	protein-coding gene	gene with protein product		136538	"""formyl peptide receptor-like 1"""	FPRL1		9054386	Standard	NM_001462		Approved	LXA4R, HM63, FPRH2, FMLPX, FPR2A, FMLP-R-II, ALXR	uc002pxr.3	P25090		ENST00000598776.1:c.621C>A	19.37:g.52272532C>A						FPR2_uc002pxs.3_Silent_p.V207V|FPR2_uc010epf.2_Silent_p.V207V	p.V207V	NM_001005738	NP_001005738	P25090	FPR2_HUMAN			2	666	+			207			Helical; Name=5; (Potential).		A8K3E2	Silent	SNP	ENST00000598776.1	37	c.621C>A	CCDS12840.1																																																																																				PASS	0.507	FPR2-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466912.2	NM_001005738		20	101	20	101	---	---	---	---
ZNF534	147658	broad.mit.edu	37	19	52938435	52938435	+	Missense_Mutation	SNP	A	A	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr19:52938435A>T	ENST00000332323.6	+	3	344	c.283A>T	c.(283-285)Agg>Tgg	p.R95W	ZNF534_ENST00000301085.4_Missense_Mutation_p.R82W|ZNF534_ENST00000433050.1_Missense_Mutation_p.R82W|ZNF534_ENST00000432303.2_Intron	NM_001143939.1	NP_001137411.1	Q76KX8	ZN534_HUMAN	zinc finger protein 534	95					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.R95W(1)|p.R82W(1)		central_nervous_system(1)|lung(1)|prostate(1)|skin(1)	4						TCCAGATGGCAGGGAGTGCAT	0.468																																						uc002pzk.2																			2	Substitution - Missense(2)		lung(2)		0						c.(283-285)AGG>TGG		zinc finger protein 534 isoform 2							84.0	72.0	76.0					19																	52938435		1568	3582	5150	SO:0001583	missense	147658				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:52938435A>T	AK058073	CCDS46165.1, CCDS46166.1	19q13.41	2013-01-08	2004-02-06	2004-02-11	ENSG00000198633	ENSG00000198633		"""Zinc fingers, C2H2-type"", ""-"""	26337	protein-coding gene	gene with protein product			"""KRAB domain only 3"""	KRBO3			Standard	NM_001143938		Approved	FLJ25344	uc002pzk.3	Q76KX8	OTTHUMG00000156493	ENST00000332323.6:c.283A>T	19.37:g.52938435A>T	ENSP00000327538:p.Arg95Trp					ZNF534_uc002pzj.1_Missense_Mutation_p.R82W|ZNF534_uc010epo.1_Intron|ZNF534_uc002pzl.2_Missense_Mutation_p.R82W	p.R95W	NM_001143939	NP_001137411	Q76KX8	ZN534_HUMAN			3	344	+			95					Q76KX9	Missense_Mutation	SNP	ENST00000332323.6	37	c.283A>T	CCDS46165.1	.	.	.	.	.	.	.	.	.	.	A	10.60	1.395312	0.25205	.	.	ENSG00000198633	ENST00000301085;ENST00000332323;ENST00000433050;ENST00000391790	T;T;T	0.07216	5.52;3.21;3.23	1.67	-1.92	0.07618	.	.	.	.	.	T	0.07548	0.0190	N	0.08118	0	0.09310	N	1	B;D;B	0.76494	0.0;0.999;0.008	B;D;B	0.66602	0.0;0.945;0.008	T	0.27020	-1.0086	9	0.33940	T	0.23	.	1.9227	0.03310	0.3128:0.0:0.2913:0.3959	.	82;95;82	Q76KX8-2;Q76KX8;Q1T7F5	.;ZN534_HUMAN;.	W	82;95;82;94	ENSP00000301085:R82W;ENSP00000327538:R95W;ENSP00000391358:R82W	ENSP00000301085:R82W	R	+	1	2	ZNF534	57630247	0.000000	0.05858	0.001000	0.08648	0.001000	0.01503	-0.071000	0.11505	-0.135000	0.11495	-0.871000	0.02989	AGG		PASS	0.468	ZNF534-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000460877.1	NM_182512		17	37	17	37	---	---	---	---
ZNF701	55762	broad.mit.edu	37	19	53086575	53086575	+	Missense_Mutation	SNP	C	C	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr19:53086575C>A	ENST00000540331.1	+	5	1686	c.1461C>A	c.(1459-1461)caC>caA	p.H487Q	CTD-3099C6.7_ENST00000599222.1_RNA|ZNF701_ENST00000391785.3_Missense_Mutation_p.H421Q|ZNF701_ENST00000301093.2_Missense_Mutation_p.H487Q	NM_001172655.1	NP_001166126.1	Q9NV72	ZN701_HUMAN	zinc finger protein 701	487					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.H421Q(1)		endometrium(5)|kidney(1)|large_intestine(2)|lung(6)	14				OV - Ovarian serous cystadenocarcinoma(262;0.0105)|GBM - Glioblastoma multiforme(134;0.0402)		TTTTTAATCACAAATCAAACC	0.358																																					NSCLC(89;451 1475 9611 20673 52284)	uc002pzs.1																			1	Substitution - Missense(1)		lung(1)		0						c.(1261-1263)CAC>CAA		zinc finger protein 701							54.0	47.0	49.0					19																	53086575		2203	4300	6503	SO:0001583	missense	55762				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53086575C>A	AK001753	CCDS33092.1, CCDS54311.1	19q13.41	2013-01-08				ENSG00000167562		"""Zinc fingers, C2H2-type"", ""-"""	25597	protein-coding gene	gene with protein product							Standard	NM_018260		Approved	FLJ10891	uc021uyw.1	Q9NV72		ENST00000540331.1:c.1461C>A	19.37:g.53086575C>A	ENSP00000444339:p.His487Gln					ZNF701_uc010ydn.1_Missense_Mutation_p.H487Q	p.H421Q	NM_018260	NP_060730	Q9NV72	ZN701_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.0105)|GBM - Glioblastoma multiforme(134;0.0402)	4	1390	+			421			C2H2-type 6.		A2RRM8|B9EGF2|F5GZM6|Q66K42	Missense_Mutation	SNP	ENST00000540331.1	37	c.1263C>A	CCDS54311.1	.	.	.	.	.	.	.	.	.	.	C	0.001	-3.956144	0.00002	.	.	ENSG00000167562	ENST00000391785;ENST00000301093;ENST00000540331	T;T;T	0.18338	2.22;2.22;2.22	1.98	-3.96	0.04106	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.04003	0.0112	N	0.01817	-0.705	0.09310	N	1	B;B	0.10296	0.003;0.0	B;B	0.11329	0.006;0.001	T	0.09618	-1.0666	9	0.05959	T	0.93	.	3.5061	0.07691	0.1572:0.4785:0.1929:0.1714	.	487;421	F5GZM6;Q9NV72	.;ZN701_HUMAN	Q	421;487;487	ENSP00000375662:H421Q;ENSP00000301093:H487Q;ENSP00000444339:H487Q	ENSP00000301093:H487Q	H	+	3	2	ZNF701	57778387	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-8.800000	0.00016	-4.293000	0.00058	-2.900000	0.00093	CAC		PASS	0.358	ZNF701-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000463467.1	NM_018260		14	65	14	65	---	---	---	---
ZNF83	55769	broad.mit.edu	37	19	53100244	53100244	+	Intron	SNP	G	G	C			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr19:53100244G>C	ENST00000600714.1	-	6	565				ZNF137P_ENST00000597158.1_RNA|ZNF83_ENST00000601257.1_Intron|CTD-3099C6.11_ENST00000596451.1_RNA			P51522	ZNF83_HUMAN	zinc finger protein 83						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)			breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	18				OV - Ovarian serous cystadenocarcinoma(262;0.00841)|GBM - Glioblastoma multiforme(134;0.0244)		AATCCATGGTGTAGGGAAACT	0.383																																						uc002pzt.2																			0					0								Homo sapiens zinc finger protein 137, mRNA (cDNA clone IMAGE:40016639).							73.0	79.0	77.0					19																	53100244		2203	4300	6503	SO:0001627	intron_variant	7696							g.chr19:53100244G>C	M27877	CCDS12854.1	19q13.3	2013-01-08	2006-05-12			ENSG00000167766		"""Zinc fingers, C2H2-type"""	13158	protein-coding gene	gene with protein product		194558	"""zinc finger protein 83 (HPF1)"", ""zinc finger protein 816B"""	ZNF816B		8088807	Standard	NM_018300		Approved	FLJ11015, HPF1	uc010epy.3	P51522		ENST00000600714.1:c.283-2687C>G	19.37:g.53100244G>C								NR_023311					GBM - Glioblastoma multiforme(134;0.0212)|OV - Ovarian serous cystadenocarcinoma(262;0.0221)	1		+								A8MT75|Q3ZCX0|Q6PI08	RNA	SNP	ENST00000600714.1	37	c.308G>C																																																																																					PASS	0.383	ZNF83-017	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000463754.1	NM_018300		21	32	21	32	---	---	---	---
ZNF600	162966	broad.mit.edu	37	19	53269553	53269553	+	Missense_Mutation	SNP	C	C	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr19:53269553C>A	ENST00000338230.3	-	3	1723	c.1456G>T	c.(1456-1458)Gca>Tca	p.A486S		NM_198457.2	NP_940859	Q6ZNG1	ZN600_HUMAN	zinc finger protein 600	486					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.A486S(1)		breast(2)|endometrium(2)|kidney(4)|large_intestine(9)|liver(1)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	30				OV - Ovarian serous cystadenocarcinoma(262;0.0241)|GBM - Glioblastoma multiforme(134;0.0404)		GTATGTTTTGCCAGATAGGAA	0.428																																					Esophageal Squamous(196;1235 2112 2375 33339 34207)	uc002qab.3																			1	Substitution - Missense(1)		lung(1)		0						c.(1456-1458)GCA>TCA		zinc finger protein 600							149.0	149.0	149.0					19																	53269553		2203	4297	6500	SO:0001583	missense	162966				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53269553C>A	U52096	CCDS12856.1	19q13.42	2013-01-08				ENSG00000189190		"""Zinc fingers, C2H2-type"""	30951	protein-coding gene	gene with protein product						12576331	Standard	NM_198457		Approved	KR-ZNF1, DKFZp686F06123	uc002qab.4	Q6ZNG1		ENST00000338230.3:c.1456G>T	19.37:g.53269553C>A	ENSP00000344791:p.Ala486Ser						p.A486S	NM_198457	NP_940859	Q6ZNG1	ZN600_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.0241)|GBM - Glioblastoma multiforme(134;0.0404)	3	1742	-			486			C2H2-type 12.		Q6MZR0	Missense_Mutation	SNP	ENST00000338230.3	37	c.1456G>T	CCDS12856.1	.	.	.	.	.	.	.	.	.	.	.	9.433	1.086065	0.20390	.	.	ENSG00000189190	ENST00000338230	T	0.15952	2.38	1.5	-0.943	0.10395	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.10594	0.0259	L	0.28694	0.88	0.09310	N	1	B	0.25312	0.123	B	0.31191	0.125	T	0.43972	-0.9358	9	0.13470	T	0.59	.	5.8781	0.18840	0.0:0.3345:0.0:0.6655	.	486	Q6ZNG1	ZN600_HUMAN	S	486	ENSP00000344791:A486S	ENSP00000344791:A486S	A	-	1	0	ZNF600	57961365	0.000000	0.05858	0.000000	0.03702	0.334000	0.28698	-1.198000	0.03035	-0.093000	0.12396	0.184000	0.17185	GCA		PASS	0.428	ZNF600-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463093.1	NM_198457		87	151	87	151	---	---	---	---
ZNF320	162967	broad.mit.edu	37	19	53385191	53385191	+	Missense_Mutation	SNP	T	T	G			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr19:53385191T>G	ENST00000595635.1	-	8	689	c.188A>C	c.(187-189)cAa>cCa	p.Q63P	ZNF320_ENST00000391781.2_Missense_Mutation_p.Q63P|ZNF320_ENST00000600930.1_Intron|ZNF320_ENST00000597909.1_Intron	NM_207333.2	NP_997216.2	A2RRD8	ZN320_HUMAN	zinc finger protein 320	63	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.Q63P(1)		NS(1)|endometrium(2)|kidney(4)|large_intestine(5)|liver(1)|lung(10)|urinary_tract(1)	24				GBM - Glioblastoma multiforme(134;0.0534)		TGTATTGCCTTGCCCTGTTGA	0.378																																						uc002qag.2																			1	Substitution - Missense(1)		lung(1)		0						c.(187-189)CAA>CCA		zinc finger protein 320							154.0	151.0	152.0					19																	53385191		2203	4299	6502	SO:0001583	missense	162967				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53385191T>G	AF086262	CCDS33095.1	19q13.41	2014-09-04			ENSG00000182986	ENSG00000182986		"""Zinc fingers, C2H2-type"", ""-"""	13842	protein-coding gene	gene with protein product		606427				11536051	Standard	XM_006723059		Approved	ZFPL, DKFZp686G16228	uc002qag.3	A2RRD8	OTTHUMG00000182797	ENST00000595635.1:c.188A>C	19.37:g.53385191T>G	ENSP00000473091:p.Gln63Pro					ZNF320_uc010eqh.1_5'Flank|ZNF320_uc010eqi.1_Intron|ZNF320_uc002qah.2_Missense_Mutation_p.Q9P|ZNF320_uc002qai.2_Missense_Mutation_p.Q63P	p.Q63P	NM_207333	NP_997216	A2RRD8	ZN320_HUMAN		GBM - Glioblastoma multiforme(134;0.0534)	4	379	-			63			KRAB.		Q8NDR6	Missense_Mutation	SNP	ENST00000595635.1	37	c.188A>C	CCDS33095.1	.	.	.	.	.	.	.	.	.	.	-	4.982	0.182418	0.09495	.	.	ENSG00000182986	ENST00000391781	T	0.07688	3.17	1.41	-1.19	0.09585	Krueppel-associated box (3);	.	.	.	.	T	0.05410	0.0143	L	0.43152	1.355	0.09310	N	1	B	0.31318	0.319	B	0.16289	0.015	T	0.34800	-0.9814	9	0.56958	D	0.05	.	1.4814	0.02437	0.3123:0.2245:0.0:0.4632	.	63	A2RRD8	ZN320_HUMAN	P	63	ENSP00000375660:Q63P	ENSP00000375660:Q63P	Q	-	2	0	ZNF320	58077003	0.000000	0.05858	0.000000	0.03702	0.111000	0.19643	-0.182000	0.09726	-0.423000	0.07394	0.155000	0.16302	CAA		PASS	0.378	ZNF320-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463771.1	NM_207333		108	164	108	164	---	---	---	---
ZNF160	90338	broad.mit.edu	37	19	53572005	53572005	+	Missense_Mutation	SNP	C	C	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr19:53572005C>A	ENST00000429604.1	-	7	2197	c.1782G>T	c.(1780-1782)aaG>aaT	p.K594N	ZNF160_ENST00000601421.1_Missense_Mutation_p.K558N|ZNF160_ENST00000599056.1_Missense_Mutation_p.K594N|ZNF160_ENST00000418871.1_Missense_Mutation_p.K594N	NM_001102603.1|NM_198893.2	NP_001096073.1|NP_942596.1	Q9HCG1	ZN160_HUMAN	zinc finger protein 160	594					hemopoiesis (GO:0030097)|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.K594N(1)		NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(8)|lung(10)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	35				GBM - Glioblastoma multiforme(134;0.02)		AGTCATTACACTTGTAAGGTT	0.408																																						uc010eqk.2																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1						c.(1780-1782)AAG>AAT		zinc finger protein 160							87.0	87.0	87.0					19																	53572005		2203	4300	6503	SO:0001583	missense	90338				hemopoiesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53572005C>A	X78928	CCDS12859.1	19q13.42	2013-01-08				ENSG00000170949		"""Zinc fingers, C2H2-type"", ""-"""	12948	protein-coding gene	gene with protein product		600398				7774943, 7865130	Standard	NM_198893		Approved	HZF5, F11, KR18, HKr18, FLJ00032, KIAA1611	uc002qar.4	Q9HCG1		ENST00000429604.1:c.1782G>T	19.37:g.53572005C>A	ENSP00000406201:p.Lys594Asn					ZNF160_uc002qaq.3_Missense_Mutation_p.K594N|ZNF160_uc002qar.3_Missense_Mutation_p.K594N	p.K594N	NM_001102603	NP_001096073	Q9HCG1	ZN160_HUMAN		GBM - Glioblastoma multiforme(134;0.02)	7	2198	-			594			C2H2-type 13.		Q14589|Q504Q8|Q96JC5|Q9BVY9|Q9H7N6	Missense_Mutation	SNP	ENST00000429604.1	37	c.1782G>T	CCDS12859.1	.	.	.	.	.	.	.	.	.	.	C	8.425	0.847328	0.17034	.	.	ENSG00000170949	ENST00000429604;ENST00000418871	T;T	0.20200	2.09;2.09	2.36	-0.512	0.11966	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.29321	0.0730	L	0.41710	1.295	0.34710	D	0.727694	D	0.89917	1.0	D	0.69824	0.966	T	0.37174	-0.9717	9	0.59425	D	0.04	.	6.0351	0.19702	0.0:0.3122:0.0:0.6878	.	594	Q9HCG1	ZN160_HUMAN	N	594	ENSP00000406201:K594N;ENSP00000409597:K594N	ENSP00000409597:K594N	K	-	3	2	ZNF160	58263817	0.000000	0.05858	0.332000	0.25469	0.184000	0.23303	-1.867000	0.01646	-0.337000	0.08426	-0.345000	0.07892	AAG		PASS	0.408	ZNF160-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463994.2	NM_033288		59	101	59	101	---	---	---	---
BIRC8	112401	broad.mit.edu	37	19	53792943	53792943	+	Missense_Mutation	SNP	A	A	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr19:53792943A>T	ENST00000426466.1	-	1	1932	c.685T>A	c.(685-687)Ttc>Atc	p.F229I		NM_033341.4	NP_203127.3	Q96P09	BIRC8_HUMAN	baculoviral IAP repeat containing 8	229					apoptotic process (GO:0006915)	cytoplasm (GO:0005737)	zinc ion binding (GO:0008270)	p.F229I(1)		NS(1)|breast(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(10)|urinary_tract(1)	19				GBM - Glioblastoma multiforme(134;0.00304)		CTTTGCTTGAAATCAATAACC	0.383																																						uc002qbk.2																			1	Substitution - Missense(1)		lung(1)	lung(1)	1						c.(685-687)TTC>ATC		baculoviral IAP repeat-containing 8							171.0	166.0	168.0					19																	53792943		2203	4300	6503	SO:0001583	missense	112401				apoptosis		zinc ion binding	g.chr19:53792943A>T	AF164682	CCDS12863.1	19q13.3-q13.4	2011-01-25	2011-01-25			ENSG00000163098		"""Baculoviral IAP repeat containing"""	14878	protein-coding gene	gene with protein product	"""IAP-like protein 2"", ""inhibitor of apoptosis-like protein 2"""		"""baculoviral IAP repeat-containing 8"""			11390657	Standard	NM_033341		Approved	ILP-2, hILP2	uc002qbk.3	Q96P09		ENST00000426466.1:c.685T>A	19.37:g.53792943A>T	ENSP00000412957:p.Phe229Ile						p.F229I	NM_033341	NP_203127	Q96P09	BIRC8_HUMAN		GBM - Glioblastoma multiforme(134;0.00304)	1	1933	-			229					Q6IPY1|Q96RW5	Missense_Mutation	SNP	ENST00000426466.1	37	c.685T>A	CCDS12863.1	.	.	.	.	.	.	.	.	.	.	A	5.437	0.265797	0.10294	.	.	ENSG00000163098	ENST00000426466	T	0.35236	1.32	0.502	0.502	0.16932	Zinc finger, RING/FYVE/PHD-type (1);	.	.	.	.	T	0.22704	0.0548	L	0.35644	1.08	0.09310	N	1	B	0.20780	0.048	B	0.21360	0.034	T	0.22382	-1.0218	9	0.28530	T	0.3	-5.8801	2.6572	0.05016	0.566:1.0E-4:0.0:0.4339	.	229	Q96P09	BIRC8_HUMAN	I	229	ENSP00000412957:F229I	ENSP00000412957:F229I	F	-	1	0	BIRC8	58484755	0.104000	0.21937	0.003000	0.11579	0.004000	0.04260	0.223000	0.17719	0.486000	0.27676	0.344000	0.21773	TTC		PASS	0.383	BIRC8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464357.1	NM_033341		126	152	126	152	---	---	---	---
BIRC8	112401	broad.mit.edu	37	19	53793364	53793364	+	Silent	SNP	C	C	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr19:53793364C>T	ENST00000426466.1	-	1	1511	c.264G>A	c.(262-264)gaG>gaA	p.E88E		NM_033341.4	NP_203127.3	Q96P09	BIRC8_HUMAN	baculoviral IAP repeat containing 8	88					apoptotic process (GO:0006915)	cytoplasm (GO:0005737)	zinc ion binding (GO:0008270)	p.E88E(1)		NS(1)|breast(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(10)|urinary_tract(1)	19				GBM - Glioblastoma multiforme(134;0.00304)		CCAGAGCTCCCTCAAGTGAAC	0.393																																						uc002qbk.2																			1	Substitution - coding silent(1)		lung(1)	lung(1)	1						c.(262-264)GAG>GAA		baculoviral IAP repeat-containing 8							204.0	194.0	198.0					19																	53793364		2203	4300	6503	SO:0001819	synonymous_variant	112401				apoptosis		zinc ion binding	g.chr19:53793364C>T	AF164682	CCDS12863.1	19q13.3-q13.4	2011-01-25	2011-01-25			ENSG00000163098		"""Baculoviral IAP repeat containing"""	14878	protein-coding gene	gene with protein product	"""IAP-like protein 2"", ""inhibitor of apoptosis-like protein 2"""		"""baculoviral IAP repeat-containing 8"""			11390657	Standard	NM_033341		Approved	ILP-2, hILP2	uc002qbk.3	Q96P09		ENST00000426466.1:c.264G>A	19.37:g.53793364C>T							p.E88E	NM_033341	NP_203127	Q96P09	BIRC8_HUMAN		GBM - Glioblastoma multiforme(134;0.00304)	1	1512	-			88					Q6IPY1|Q96RW5	Silent	SNP	ENST00000426466.1	37	c.264G>A	CCDS12863.1																																																																																				PASS	0.393	BIRC8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464357.1	NM_033341		79	117	79	117	---	---	---	---
ZNF761	388561	broad.mit.edu	37	19	53958872	53958872	+	RNA	SNP	T	T	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr19:53958872T>A	ENST00000454407.1	+	0	1564							Q86XN6	ZN761_HUMAN	zinc finger protein 761						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.C317S(1)		endometrium(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	30				GBM - Glioblastoma multiforme(134;0.00786)		ATCCCTTACATGCCATCATAG	0.428																																						uc010eqp.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1111-1113)TGC>AGC		zinc finger protein 761							168.0	166.0	167.0					19																	53958872		2203	4300	6503			388561				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53958872T>A	AB107355		19q13.42	2007-10-05	2006-08-11	2006-08-11	ENSG00000160336	ENSG00000160336		"""Zinc fingers, C2H2-type"""	23179	protein-coding gene	gene with protein product							Standard	NM_001008401		Approved	KIAA2033, FLJ16231, FLJ35333	uc010eqp.3	Q86XN6	OTTHUMG00000156999		19.37:g.53958872T>A						ZNF761_uc010ydy.1_Missense_Mutation_p.C317S|ZNF761_uc002qbt.1_Missense_Mutation_p.C317S	p.C371S	NM_001008401	NP_001008401	Q86XN6	ZN761_HUMAN		GBM - Glioblastoma multiforme(134;0.00786)	7	1569	+			371			C2H2-type 6.		Q6ZNB9	Missense_Mutation	SNP	ENST00000454407.1	37	c.1111T>A																																																																																					PASS	0.428	ZNF761-203	KNOWN	basic	processed_transcript	processed_transcript		NM_001008401		45	227	45	227	---	---	---	---
ZNF813	126017	broad.mit.edu	37	19	53995065	53995065	+	Nonsense_Mutation	SNP	G	G	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr19:53995065G>T	ENST00000396403.4	+	4	1707	c.1579G>T	c.(1579-1581)Gaa>Taa	p.E527*	ZNF813_ENST00000396421.4_Intron	NM_001004301.3	NP_001004301.2	Q6ZN06	ZN813_HUMAN	zinc finger protein 813	527					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.E527*(1)		large_intestine(1)	1				GBM - Glioblastoma multiforme(134;0.00619)		CAAGTGTAATGAATGTGGCAA	0.373																																						uc002qbu.2																			1	Substitution - Nonsense(1)		lung(1)	large_intestine(1)	1						c.(1579-1581)GAA>TAA		zinc finger protein 813							48.0	51.0	50.0					19																	53995065		2199	4293	6492	SO:0001587	stop_gained	126017				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53995065G>T	AK091460	CCDS46172.1	19q13.41	2013-01-08			ENSG00000198346	ENSG00000198346		"""Zinc fingers, C2H2-type"", ""-"""	33257	protein-coding gene	gene with protein product							Standard	NM_001004301		Approved	FLJ16542	uc002qbu.2	Q6ZN06	OTTHUMG00000158309	ENST00000396403.4:c.1579G>T	19.37:g.53995065G>T	ENSP00000379684:p.Glu527*					ZNF813_uc010eqq.1_Intron	p.E527*	NM_001004301	NP_001004301	Q6ZN06	ZN813_HUMAN		GBM - Glioblastoma multiforme(134;0.00619)	4	1707	+			527			C2H2-type 12.			Nonsense_Mutation	SNP	ENST00000396403.4	37	c.1579G>T	CCDS46172.1	.	.	.	.	.	.	.	.	.	.	g	16.10	3.028595	0.54790	.	.	ENSG00000198346	ENST00000396403	.	.	.	1.28	-2.56	0.06268	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	0.51188	T	0.08	.	5.6815	0.17778	0.1519:0.1921:0.6559:0.0	.	.	.	.	X	527	.	ENSP00000379684:E527X	E	+	1	0	ZNF813	58686877	0.000000	0.05858	0.002000	0.10522	0.036000	0.12997	-2.054000	0.01399	-1.097000	0.03042	-1.089000	0.02181	GAA		PASS	0.373	ZNF813-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350638.1	NM_001004301		22	44	22	44	---	---	---	---
ZNF813	126017	broad.mit.edu	37	19	53995209	53995209	+	Nonsense_Mutation	SNP	G	G	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr19:53995209G>T	ENST00000396403.4	+	4	1851	c.1723G>T	c.(1723-1725)Gga>Tga	p.G575*	ZNF813_ENST00000396421.4_Intron	NM_001004301.3	NP_001004301.2	Q6ZN06	ZN813_HUMAN	zinc finger protein 813	575					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.G575*(1)		large_intestine(1)	1				GBM - Glioblastoma multiforme(134;0.00619)		ACTTCATACTGGAGAGAAACC	0.373																																						uc002qbu.2																			1	Substitution - Nonsense(1)		lung(1)	large_intestine(1)	1						c.(1723-1725)GGA>TGA		zinc finger protein 813							42.0	45.0	44.0					19																	53995209		2199	4298	6497	SO:0001587	stop_gained	126017				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53995209G>T	AK091460	CCDS46172.1	19q13.41	2013-01-08			ENSG00000198346	ENSG00000198346		"""Zinc fingers, C2H2-type"", ""-"""	33257	protein-coding gene	gene with protein product							Standard	NM_001004301		Approved	FLJ16542	uc002qbu.2	Q6ZN06	OTTHUMG00000158309	ENST00000396403.4:c.1723G>T	19.37:g.53995209G>T	ENSP00000379684:p.Gly575*					ZNF813_uc010eqq.1_Intron	p.G575*	NM_001004301	NP_001004301	Q6ZN06	ZN813_HUMAN		GBM - Glioblastoma multiforme(134;0.00619)	4	1851	+			575						Nonsense_Mutation	SNP	ENST00000396403.4	37	c.1723G>T	CCDS46172.1	.	.	.	.	.	.	.	.	.	.	g	25.6	4.651274	0.88056	.	.	ENSG00000198346	ENST00000396403	.	.	.	1.28	1.28	0.21552	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	.	5.192	0.15214	0.2172:0.0:0.7828:0.0	.	.	.	.	X	575	.	ENSP00000379684:G575X	G	+	1	0	ZNF813	58687021	1.000000	0.71417	0.149000	0.22428	0.051000	0.14879	4.416000	0.59815	0.455000	0.26910	0.187000	0.17357	GGA		PASS	0.373	ZNF813-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350638.1	NM_001004301		20	40	20	40	---	---	---	---
NLRP12	91662	broad.mit.edu	37	19	54301541	54301541	+	Silent	SNP	C	C	G			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr19:54301541C>G	ENST00000324134.6	-	8	3051	c.2883G>C	c.(2881-2883)ctG>ctC	p.L961L	NLRP12_ENST00000351894.4_Intron|NLRP12_ENST00000391773.1_Silent_p.L962L|NLRP12_ENST00000535162.1_Silent_p.L961L|NLRP12_ENST00000391775.3_Intron|NLRP12_ENST00000345770.5_Silent_p.L962L|NLRP12_ENST00000391772.1_Intron|NLRP12_ENST00000354278.3_Intron	NM_001277126.1|NM_144687.2	NP_001264055.1|NP_653288.1	P59046	NAL12_HUMAN	NLR family, pyrin domain containing 12	961					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|cellular response to cytokine stimulus (GO:0071345)|dendritic cell migration (GO:0036336)|negative regulation of cytokine secretion (GO:0050710)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-1 secretion (GO:0050711)|negative regulation of interleukin-6 biosynthetic process (GO:0045409)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of NIK/NF-kappaB signaling (GO:1901223)|negative regulation of protein autophosphorylation (GO:0031953)|negative regulation of signal transduction (GO:0009968)|negative regulation of Toll signaling pathway (GO:0045751)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interleukin-1 beta secretion (GO:0050718)|positive regulation of MHC class I biosynthetic process (GO:0045345)|regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043281)|regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043122)|regulation of interleukin-18 biosynthetic process (GO:0045381)|release of cytoplasmic sequestered NF-kappaB (GO:0008588)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)	p.L961L(1)		NS(1)|breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(36)|ovary(5)|pancreas(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	80	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.026)		GCCCCTCAGCCAGCAACCACA	0.622																																						uc002qch.3																			1	Substitution - coding silent(1)		lung(1)	ovary(4)|upper_aerodigestive_tract(2)|lung(1)	7						c.(2881-2883)CTG>CTC		NLR family, pyrin domain containing 12 isoform							63.0	60.0	61.0					19																	54301541		2203	4300	6503	SO:0001819	synonymous_variant	91662				negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of interleukin-1 secretion|negative regulation of interleukin-6 biosynthetic process|negative regulation of protein autophosphorylation|negative regulation of Toll signaling pathway|positive regulation of inflammatory response|positive regulation of interleukin-1 beta secretion|regulation of interleukin-18 biosynthetic process|release of cytoplasmic sequestered NF-kappaB	cytoplasm	ATP binding|caspase activator activity|protein binding	g.chr19:54301541C>G	AY095146	CCDS12864.1, CCDS62784.1, CCDS62785.1	19q13.42	2014-09-17	2006-12-08	2006-12-08	ENSG00000142405	ENSG00000142405		"""Nucleotide-binding domain and leucine rich repeat containing"""	22938	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 12"""	609648	"""NACHT, leucine rich repeat and PYD containing 12"""	NALP12		12563287, 12019269	Standard	NM_001277129		Approved	RNO2, PYPAF7, Monarch1, PAN6, CLR19.3	uc002qcj.5	P59046	OTTHUMG00000060776	ENST00000324134.6:c.2883G>C	19.37:g.54301541C>G						NLRP12_uc010eqw.2_Intron|NLRP12_uc002qci.3_Intron|NLRP12_uc002qcj.3_Silent_p.L962L|NLRP12_uc002qck.3_Intron|NLRP12_uc010eqx.2_Intron	p.L961L	NM_144687	NP_653288	P59046	NAL12_HUMAN		GBM - Glioblastoma multiforme(134;0.026)	8	3103	-	Ovarian(34;0.19)		961			LRR 5.		A8MTQ2|B3KTE7|Q8NEU4|Q9BY26	Silent	SNP	ENST00000324134.6	37	c.2883G>C	CCDS12864.1																																																																																				PASS	0.622	NLRP12-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000134340.1	NM_144687		45	55	45	55	---	---	---	---
NLRP12	91662	broad.mit.edu	37	19	54307228	54307228	+	Missense_Mutation	SNP	C	C	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr19:54307228C>T	ENST00000324134.6	-	6	2731	c.2563G>A	c.(2563-2565)Gtc>Atc	p.V855I	NLRP12_ENST00000351894.4_Missense_Mutation_p.V855I|NLRP12_ENST00000391773.1_Missense_Mutation_p.V856I|NLRP12_ENST00000535162.1_Missense_Mutation_p.V855I|NLRP12_ENST00000391775.3_Missense_Mutation_p.V855I|NLRP12_ENST00000345770.5_Missense_Mutation_p.V856I|NLRP12_ENST00000391772.1_Missense_Mutation_p.V856I|NLRP12_ENST00000354278.3_Missense_Mutation_p.V855I	NM_001277126.1|NM_144687.2	NP_001264055.1|NP_653288.1	P59046	NAL12_HUMAN	NLR family, pyrin domain containing 12	855					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|cellular response to cytokine stimulus (GO:0071345)|dendritic cell migration (GO:0036336)|negative regulation of cytokine secretion (GO:0050710)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-1 secretion (GO:0050711)|negative regulation of interleukin-6 biosynthetic process (GO:0045409)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of NIK/NF-kappaB signaling (GO:1901223)|negative regulation of protein autophosphorylation (GO:0031953)|negative regulation of signal transduction (GO:0009968)|negative regulation of Toll signaling pathway (GO:0045751)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interleukin-1 beta secretion (GO:0050718)|positive regulation of MHC class I biosynthetic process (GO:0045345)|regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043281)|regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043122)|regulation of interleukin-18 biosynthetic process (GO:0045381)|release of cytoplasmic sequestered NF-kappaB (GO:0008588)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)	p.V855I(1)		NS(1)|breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(36)|ovary(5)|pancreas(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	80	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.026)		AGTCTGCAGACTGGGTGCCTC	0.473																																						uc002qch.3																			1	Substitution - Missense(1)		lung(1)	ovary(4)|upper_aerodigestive_tract(2)|lung(1)	7						c.(2563-2565)GTC>ATC		NLR family, pyrin domain containing 12 isoform							82.0	68.0	73.0					19																	54307228		2203	4300	6503	SO:0001583	missense	91662				negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of interleukin-1 secretion|negative regulation of interleukin-6 biosynthetic process|negative regulation of protein autophosphorylation|negative regulation of Toll signaling pathway|positive regulation of inflammatory response|positive regulation of interleukin-1 beta secretion|regulation of interleukin-18 biosynthetic process|release of cytoplasmic sequestered NF-kappaB	cytoplasm	ATP binding|caspase activator activity|protein binding	g.chr19:54307228C>T	AY095146	CCDS12864.1, CCDS62784.1, CCDS62785.1	19q13.42	2014-09-17	2006-12-08	2006-12-08	ENSG00000142405	ENSG00000142405		"""Nucleotide-binding domain and leucine rich repeat containing"""	22938	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 12"""	609648	"""NACHT, leucine rich repeat and PYD containing 12"""	NALP12		12563287, 12019269	Standard	NM_001277129		Approved	RNO2, PYPAF7, Monarch1, PAN6, CLR19.3	uc002qcj.5	P59046	OTTHUMG00000060776	ENST00000324134.6:c.2563G>A	19.37:g.54307228C>T	ENSP00000319377:p.Val855Ile					NLRP12_uc010eqw.2_Missense_Mutation_p.V138I|NLRP12_uc002qci.3_Missense_Mutation_p.V855I|NLRP12_uc002qcj.3_Missense_Mutation_p.V856I|NLRP12_uc002qck.3_RNA|NLRP12_uc010eqx.2_Missense_Mutation_p.V856I	p.V855I	NM_144687	NP_653288	P59046	NAL12_HUMAN		GBM - Glioblastoma multiforme(134;0.026)	6	2783	-	Ovarian(34;0.19)		855					A8MTQ2|B3KTE7|Q8NEU4|Q9BY26	Missense_Mutation	SNP	ENST00000324134.6	37	c.2563G>A	CCDS12864.1	.	.	.	.	.	.	.	.	.	.	C	14.04	2.416745	0.42918	.	.	ENSG00000142405	ENST00000324134;ENST00000535162;ENST00000351894;ENST00000354278;ENST00000358661;ENST00000391775;ENST00000391773;ENST00000345770;ENST00000391772	T;T;T;T;T;T;T	0.52983	0.99;0.99;0.64;0.64;0.99;0.99;0.64	4.52	-9.04	0.00734	.	0.931154	0.08690	U	0.908091	T	0.33089	0.0851	L	0.60455	1.87	0.09310	N	1	B;B;B;B;B	0.02656	0.0;0.0;0.0;0.0;0.0	B;B;B;B;B	0.08055	0.001;0.003;0.003;0.002;0.002	T	0.23476	-1.0187	10	0.30854	T	0.27	.	5.8291	0.18570	0.6607:0.1392:0.1097:0.0904	.	856;138;855;855;855	F2Z321;P59046-5;A8K407;A8MTQ2;P59046	.;.;.;.;NAL12_HUMAN	I	855;855;855;855;138;855;856;856;856	ENSP00000319377:V855I;ENSP00000438030:V855I;ENSP00000340473:V855I;ENSP00000346231:V855I;ENSP00000375655:V855I;ENSP00000375653:V856I;ENSP00000375652:V856I	ENSP00000319377:V855I	V	-	1	0	NLRP12	58999040	0.000000	0.05858	0.000000	0.03702	0.713000	0.41058	-2.331000	0.01110	-1.300000	0.02341	0.442000	0.29010	GTC		PASS	0.473	NLRP12-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000134340.1	NM_144687		19	39	19	39	---	---	---	---
NLRP12	91662	broad.mit.edu	37	19	54313686	54313686	+	Silent	SNP	C	C	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr19:54313686C>A	ENST00000324134.6	-	3	1395	c.1227G>T	c.(1225-1227)gtG>gtT	p.V409V	NLRP12_ENST00000351894.4_Silent_p.V409V|NLRP12_ENST00000391773.1_Silent_p.V409V|NLRP12_ENST00000535162.1_Silent_p.V409V|NLRP12_ENST00000391775.3_Silent_p.V409V|NLRP12_ENST00000345770.5_Silent_p.V409V|NLRP12_ENST00000391772.1_Silent_p.V409V|NLRP12_ENST00000354278.3_Silent_p.V409V	NM_001277126.1|NM_144687.2	NP_001264055.1|NP_653288.1	P59046	NAL12_HUMAN	NLR family, pyrin domain containing 12	409	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|cellular response to cytokine stimulus (GO:0071345)|dendritic cell migration (GO:0036336)|negative regulation of cytokine secretion (GO:0050710)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-1 secretion (GO:0050711)|negative regulation of interleukin-6 biosynthetic process (GO:0045409)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of NIK/NF-kappaB signaling (GO:1901223)|negative regulation of protein autophosphorylation (GO:0031953)|negative regulation of signal transduction (GO:0009968)|negative regulation of Toll signaling pathway (GO:0045751)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interleukin-1 beta secretion (GO:0050718)|positive regulation of MHC class I biosynthetic process (GO:0045345)|regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043281)|regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043122)|regulation of interleukin-18 biosynthetic process (GO:0045381)|release of cytoplasmic sequestered NF-kappaB (GO:0008588)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)	p.V409V(1)		NS(1)|breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(36)|ovary(5)|pancreas(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	80	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.026)		AGGTACACACCACCCAGCACA	0.577																																						uc002qch.3																			1	Substitution - coding silent(1)		lung(1)	ovary(4)|upper_aerodigestive_tract(2)|lung(1)	7						c.(1225-1227)GTG>GTT		NLR family, pyrin domain containing 12 isoform							129.0	127.0	128.0					19																	54313686		2203	4300	6503	SO:0001819	synonymous_variant	91662				negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of interleukin-1 secretion|negative regulation of interleukin-6 biosynthetic process|negative regulation of protein autophosphorylation|negative regulation of Toll signaling pathway|positive regulation of inflammatory response|positive regulation of interleukin-1 beta secretion|regulation of interleukin-18 biosynthetic process|release of cytoplasmic sequestered NF-kappaB	cytoplasm	ATP binding|caspase activator activity|protein binding	g.chr19:54313686C>A	AY095146	CCDS12864.1, CCDS62784.1, CCDS62785.1	19q13.42	2014-09-17	2006-12-08	2006-12-08	ENSG00000142405	ENSG00000142405		"""Nucleotide-binding domain and leucine rich repeat containing"""	22938	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 12"""	609648	"""NACHT, leucine rich repeat and PYD containing 12"""	NALP12		12563287, 12019269	Standard	NM_001277129		Approved	RNO2, PYPAF7, Monarch1, PAN6, CLR19.3	uc002qcj.5	P59046	OTTHUMG00000060776	ENST00000324134.6:c.1227G>T	19.37:g.54313686C>A						NLRP12_uc010eqw.2_5'Flank|NLRP12_uc002qci.3_Silent_p.V409V|NLRP12_uc002qcj.3_Silent_p.V409V|NLRP12_uc002qck.3_RNA|NLRP12_uc010eqx.2_Silent_p.V409V	p.V409V	NM_144687	NP_653288	P59046	NAL12_HUMAN		GBM - Glioblastoma multiforme(134;0.026)	3	1447	-	Ovarian(34;0.19)		409			NACHT.		A8MTQ2|B3KTE7|Q8NEU4|Q9BY26	Silent	SNP	ENST00000324134.6	37	c.1227G>T	CCDS12864.1																																																																																				PASS	0.577	NLRP12-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000134340.1	NM_144687		46	180	46	180	---	---	---	---
MYADM	91663	broad.mit.edu	37	19	54377184	54377184	+	Missense_Mutation	SNP	G	G	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr19:54377184G>A	ENST00000391769.2	+	3	681	c.401G>A	c.(400-402)cGg>cAg	p.R134Q	MYADM_ENST00000336967.3_Missense_Mutation_p.R134Q|MYADM_ENST00000391768.2_Missense_Mutation_p.R134Q|MYADM_ENST00000391771.1_Missense_Mutation_p.R134Q|AC008440.5_ENST00000413496.2_RNA|MYADM_ENST00000391770.4_Missense_Mutation_p.R134Q	NM_001020821.1	NP_001018657.1	Q96S97	MYADM_HUMAN	myeloid-associated differentiation marker	134	MARVEL 1. {ECO:0000255|PROSITE- ProRule:PRU00581}.				establishment of endothelial barrier (GO:0061028)|membrane raft organization (GO:0031579)|negative regulation of actin filament polymerization (GO:0030837)|negative regulation of gene expression (GO:0010629)|negative regulation of heterotypic cell-cell adhesion (GO:0034115)|negative regulation of protein kinase C signaling (GO:0090038)|negative regulation of protein phosphorylation (GO:0001933)|positive regulation of cell migration (GO:0030335)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|protein targeting to plasma membrane (GO:0072661)	cell-cell junction (GO:0005911)|cortical actin cytoskeleton (GO:0030864)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|ruffle (GO:0001726)		p.R134Q(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	12	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.0488)		GGCCGTTCGCGGGACCACGCC	0.662																																						uc002qcl.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(400-402)CGG>CAG		myeloid-associated differentiation marker							78.0	77.0	78.0					19																	54377184		2203	4300	6503	SO:0001583	missense	91663					integral to membrane		g.chr19:54377184G>A	AF087882	CCDS12866.1	19q13.33-q13.4	2004-07-23			ENSG00000179820	ENSG00000179820			7544	protein-coding gene	gene with protein product		609959				10733104, 12075932	Standard	NM_001020818		Approved		uc002qcl.3	Q96S97	OTTHUMG00000060775	ENST00000391769.2:c.401G>A	19.37:g.54377184G>A	ENSP00000375649:p.Arg134Gln					MYADM_uc002qcm.2_Missense_Mutation_p.R134Q|MYADM_uc002qcn.2_Missense_Mutation_p.R134Q|MYADM_uc002qco.2_Missense_Mutation_p.R134Q|MYADM_uc002qcp.2_Missense_Mutation_p.R134Q	p.R134Q	NM_001020820	NP_001018656	Q96S97	MYADM_HUMAN		GBM - Glioblastoma multiforme(134;0.0488)	3	549	+	Ovarian(34;0.19)		134			MARVEL 1.		B2RE58|Q542Z1|Q7Z507|Q8N9R4|Q96CS6|Q96SK9	Missense_Mutation	SNP	ENST00000391769.2	37	c.401G>A	CCDS12866.1	.	.	.	.	.	.	.	.	.	.	G	13.36	2.213277	0.39102	.	.	ENSG00000179820	ENST00000421337;ENST00000336967;ENST00000391770;ENST00000448420;ENST00000439000;ENST00000391771;ENST00000391769;ENST00000391768;ENST00000414489	T;T;T;T;T;T;T;T;T	0.25414	1.8;1.8;1.8;1.8;1.8;1.8;1.8;1.8;1.8	4.21	2.03	0.26663	Marvel (1);MARVEL-like domain (1);	0.362461	0.23856	N	0.043894	T	0.36110	0.0955	L	0.55017	1.72	0.09310	N	0.999997	D	0.76494	0.999	D	0.63597	0.916	T	0.08289	-1.0729	10	0.27082	T	0.32	-8.5905	8.0744	0.30708	0.2057:0.0:0.7943:0.0	.	134	Q96S97	MYADM_HUMAN	Q	134	ENSP00000398269:R134Q;ENSP00000337222:R134Q;ENSP00000375650:R134Q;ENSP00000399722:R134Q;ENSP00000416919:R134Q;ENSP00000375651:R134Q;ENSP00000375649:R134Q;ENSP00000375648:R134Q;ENSP00000404958:R134Q	ENSP00000337222:R134Q	R	+	2	0	MYADM	59068996	0.802000	0.28943	0.376000	0.26042	0.479000	0.33129	2.332000	0.43903	0.909000	0.36697	0.313000	0.20887	CGG		PASS	0.662	MYADM-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000134337.1	NM_138373		29	95	29	95	---	---	---	---
CACNG7	59284	broad.mit.edu	37	19	54418756	54418756	+	Missense_Mutation	SNP	T	T	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr19:54418756T>A	ENST00000391767.1	+	4	633	c.421T>A	c.(421-423)Tcg>Acg	p.S141T	CACNG7_ENST00000468076.1_3'UTR|CACNG7_ENST00000391766.1_Missense_Mutation_p.S141T|CACNG7_ENST00000222212.2_Missense_Mutation_p.S141T			P62955	CCG7_HUMAN	calcium channel, voltage-dependent, gamma subunit 7	141					calcium ion transport (GO:0006816)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|voltage-gated calcium channel complex (GO:0005891)	voltage-gated calcium channel activity (GO:0005245)	p.S141T(1)		NS(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	23	all_cancers(19;0.0462)|all_epithelial(19;0.0258)|all_lung(19;0.185)|Ovarian(34;0.19)|Lung NSC(19;0.218)			GBM - Glioblastoma multiforme(134;0.0711)		CTTCATACTATCGGGTGAGCC	0.562																																						uc002qcr.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(421-423)TCG>ACG		voltage-dependent calcium channel gamma-7							95.0	87.0	90.0					19																	54418756		2203	4300	6503	SO:0001583	missense	59284				regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|voltage-gated calcium channel complex	voltage-gated calcium channel activity	g.chr19:54418756T>A	AF288387	CCDS12868.1	19q13.4	2008-05-02			ENSG00000105605	ENSG00000105605		"""Calcium channel subunits"""	13626	protein-coding gene	gene with protein product		606899				11170751	Standard	NM_031896		Approved		uc002qcr.2	P62955	OTTHUMG00000064852	ENST00000391767.1:c.421T>A	19.37:g.54418756T>A	ENSP00000375647:p.Ser141Thr					CACNG7_uc010era.1_Missense_Mutation_p.S141T	p.S141T	NM_031896	NP_114102	P62955	CCG7_HUMAN		GBM - Glioblastoma multiforme(134;0.0711)	3	436	+	all_cancers(19;0.0462)|all_epithelial(19;0.0258)|all_lung(19;0.185)|Ovarian(34;0.19)|Lung NSC(19;0.218)		141			Helical; (Potential).		Q52LL8|Q8VBX3|Q8WXS6|Q9BXT1	Missense_Mutation	SNP	ENST00000391767.1	37	c.421T>A	CCDS12868.1	.	.	.	.	.	.	.	.	.	.	T	15.85	2.955342	0.53293	.	.	ENSG00000105605	ENST00000391767;ENST00000222212;ENST00000391766	D;D;D	0.90563	-2.69;-2.69;-2.69	3.91	3.91	0.45181	.	0.225588	0.39083	N	0.001476	D	0.89469	0.6724	L	0.56199	1.76	0.80722	D	1	P	0.45396	0.857	P	0.47645	0.553	D	0.88691	0.3209	10	0.42905	T	0.14	-6.3726	11.363	0.49655	0.0:0.0:0.0:1.0	.	141	P62955	CCG7_HUMAN	T	141	ENSP00000375647:S141T;ENSP00000222212:S141T;ENSP00000375646:S141T	ENSP00000222212:S141T	S	+	1	0	CACNG7	59110568	1.000000	0.71417	0.055000	0.19348	0.488000	0.33401	7.381000	0.79718	1.998000	0.58463	0.460000	0.39030	TCG		PASS	0.562	CACNG7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000139240.2			20	46	20	46	---	---	---	---
TSEN34	79042	broad.mit.edu	37	19	54695431	54695431	+	Silent	SNP	G	G	A	rs530821643		TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr19:54695431G>A	ENST00000396383.1	+	2	527	c.216G>A	c.(214-216)ccG>ccA	p.P72P	TSEN34_ENST00000396388.2_Silent_p.P72P|TSEN34_ENST00000302937.4_Silent_p.P72P|MBOAT7_ENST00000338624.6_5'Flank|CTD-3093M3.1_ENST00000594382.1_lincRNA|TSEN34_ENST00000429671.2_Silent_p.P72P|MBOAT7_ENST00000391754.1_5'Flank|MBOAT7_ENST00000474910.1_5'Flank|MBOAT7_ENST00000245615.1_5'Flank|MBOAT7_ENST00000431666.2_5'Flank			Q9BSV6	SEN34_HUMAN	TSEN34 tRNA splicing endonuclease subunit	72					mRNA processing (GO:0006397)|tRNA-type intron splice site recognition and cleavage (GO:0000379)	tRNA-intron endonuclease complex (GO:0000214)	lyase activity (GO:0016829)|nucleic acid binding (GO:0003676)|tRNA-intron endonuclease activity (GO:0000213)	p.P72P(1)		endometrium(1)|large_intestine(1)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)	10	all_cancers(19;0.00723)|all_epithelial(19;0.00389)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)					TCAGCGCCCCGCGTCCAGACT	0.697																																					Esophageal Squamous(37;841 964 4869 42824)	uc002qdu.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(214-216)CCG>CCA		tRNA-intron endonuclease 34							18.0	20.0	19.0					19																	54695431		1815	3936	5751	SO:0001819	synonymous_variant	79042				mRNA processing|tRNA-type intron splice site recognition and cleavage	nucleolus|tRNA-intron endonuclease complex	nucleic acid binding|tRNA-intron endonuclease activity	g.chr19:54695431G>A	AF211970	CCDS42609.1, CCDS74446.1	19q13.4	2013-08-06	2013-08-06	2005-03-12	ENSG00000170892	ENSG00000170892		"""tRNA splicing endonuclease subunits"""	15506	protein-coding gene	gene with protein product		608754	"""leukocyte receptor cluster (LRC) member 5"", ""tRNA splicing endonuclease 34 homolog (SEN34, S. cerevisiae)"", ""tRNA splicing endonuclease 34 homolog (S. cerevisiae)"""	LENG5		10941842, 15109492	Standard	NM_024075		Approved	SEN34, SEN34L	uc002qdw.3	Q9BSV6	OTTHUMG00000066515	ENST00000396383.1:c.216G>A	19.37:g.54695431G>A						MBOAT7_uc002qdq.2_5'Flank|MBOAT7_uc002qdr.2_5'Flank|MBOAT7_uc002qds.2_5'Flank|MBOAT7_uc010yen.1_5'Flank|MBOAT7_uc002qdt.3_5'Flank|TSEN34_uc010yeo.1_Silent_p.P72P|TSEN34_uc002qdv.2_Silent_p.P72P|TSEN34_uc002qdw.2_Silent_p.P72P	p.P72P	NM_024075	NP_076980	Q9BSV6	SEN34_HUMAN			2	325	+	all_cancers(19;0.00723)|all_epithelial(19;0.00389)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)		72					A6NNB1|B0V3J1|Q9BVT1|Q9H6H5	Silent	SNP	ENST00000396383.1	37	c.216G>A	CCDS42609.1																																																																																				PASS	0.697	TSEN34-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142200.1	NM_024075		9	27	9	27	---	---	---	---
LILRA5	353514	broad.mit.edu	37	19	54823819	54823819	+	Missense_Mutation	SNP	G	G	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr19:54823819G>T	ENST00000301219.3	-	2	195	c.76C>A	c.(76-78)Ctg>Atg	p.L26M	LILRA5_ENST00000346508.3_Missense_Mutation_p.L26M|LILRA5_ENST00000446712.3_Missense_Mutation_p.L26M|LILRA5_ENST00000432233.3_Missense_Mutation_p.L26M|AC008984.2_ENST00000507363.1_RNA	NM_021250.2	NP_067073.1	A6NI73	LIRA5_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 5	26					innate immune response (GO:0045087)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)		p.L26M(1)		breast(1)|endometrium(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	20	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		AGGCAGAGCAGAACCATGAGG	0.612																																						uc002qfe.2																			1	Substitution - Missense(1)		lung(1)	upper_aerodigestive_tract(1)	1						c.(76-78)CTG>ATG		leukocyte immunoglobulin-like receptor subfamily							55.0	45.0	48.0					19																	54823819		2203	4300	6503	SO:0001583	missense	353514				innate immune response	extracellular region|integral to membrane	receptor activity	g.chr19:54823819G>T	AF212842	CCDS12888.1, CCDS12889.1	19q13.4	2013-01-11	2005-05-13	2005-05-13	ENSG00000187116	ENSG00000187116		"""Leukocyte immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	16309	protein-coding gene	gene with protein product		606047		LILRB7		10941842	Standard	NM_181986		Approved	ILT11, LIR9, CD85, CD85f	uc002qfe.3	A6NI73	OTTHUMG00000065357	ENST00000301219.3:c.76C>A	19.37:g.54823819G>T	ENSP00000301219:p.Leu26Met					LILRA5_uc002qff.2_Missense_Mutation_p.L26M|LILRA5_uc010yev.1_Missense_Mutation_p.L26M|LILRA5_uc010yew.1_Missense_Mutation_p.L26M|LILRA5_uc002qfh.1_Missense_Mutation_p.L26M|LILRA5_uc002qfg.1_Missense_Mutation_p.L26M	p.L26M	NM_021250	NP_067073	A6NI73	LIRA5_HUMAN		GBM - Glioblastoma multiforme(193;0.105)	2	196	-	Ovarian(34;0.19)		26					A6NHI3	Missense_Mutation	SNP	ENST00000301219.3	37	c.76C>A	CCDS12888.1	.	.	.	.	.	.	.	.	.	.	G	12.38	1.921038	0.33908	.	.	ENSG00000187116	ENST00000301219;ENST00000346508;ENST00000446712;ENST00000432233	T;T;T;T	0.00584	6.52;6.67;6.46;6.4	2.92	0.553	0.17235	.	0.706810	0.10929	N	0.618584	T	0.02193	0.0068	M	0.83483	2.645	0.09310	N	1	D;D;D;D	0.89917	0.998;1.0;0.998;1.0	D;D;D;D	0.91635	0.973;0.999;0.973;0.996	T	0.43637	-0.9379	10	0.87932	D	0	.	3.853	0.08963	0.1428:0.0:0.6213:0.2359	.	26;26;26;26	A6NI73-4;A6NI73-3;A6NI73-2;A6NI73	.;.;.;LIRA5_HUMAN	M	26	ENSP00000301219:L26M;ENSP00000302948:L26M;ENSP00000389499:L26M;ENSP00000404236:L26M	ENSP00000301219:L26M	L	-	1	2	LILRA5	59515631	0.001000	0.12720	0.040000	0.18447	0.009000	0.06853	-0.083000	0.11286	0.059000	0.16252	0.411000	0.27672	CTG		PASS	0.612	LILRA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000140231.1	NM_181985		23	40	23	40	---	---	---	---
LILRA4	23547	broad.mit.edu	37	19	54848414	54848414	+	Splice_Site	SNP	C	C	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr19:54848414C>A	ENST00000291759.4	-	6	1009	c.953G>T	c.(952-954)gGa>gTa	p.G318V	AC008984.2_ENST00000507363.1_RNA	NM_012276.3	NP_036408.3	P59901	LIRA4_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 4	318					immune system process (GO:0002376)	integral component of membrane (GO:0016021)		p.G318V(1)		NS(2)|breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(5)|lung(13)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)	32	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.0565)		AGAGATCTGTCCTGGAGAAAA	0.607																																						uc002qfj.2																			1	Substitution - Missense(1)		lung(1)	upper_aerodigestive_tract(1)|central_nervous_system(1)	2						c.(952-954)GGA>GTA		leukocyte immunoglobulin-like receptor subfamily							42.0	45.0	44.0					19																	54848414		2203	4300	6503	SO:0001630	splice_region_variant	23547					integral to membrane	receptor activity	g.chr19:54848414C>A	AF041261	CCDS12890.1	19q13.4	2013-01-11			ENSG00000239961	ENSG00000239961		"""Leukocyte immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	15503	protein-coding gene	gene with protein product		607517				10941842	Standard	NM_012276		Approved	ILT7, CD85g	uc002qfj.3	P59901	OTTHUMG00000065355	ENST00000291759.4:c.953-1G>T	19.37:g.54848414C>A						LILRA4_uc002qfi.2_Missense_Mutation_p.G252V	p.G318V	NM_012276	NP_036408	P59901	LIRA4_HUMAN		GBM - Glioblastoma multiforme(193;0.0565)	6	1010	-	Ovarian(34;0.19)		318			Extracellular (Potential).		Q32MC4	Missense_Mutation	SNP	ENST00000291759.4	37	c.953G>T	CCDS12890.1	.	.	.	.	.	.	.	.	.	.	.	13.88	2.369676	0.42003	.	.	ENSG00000239961	ENST00000291759	T	0.01397	4.94	2.69	2.69	0.31865	.	0.000000	0.34932	N	0.003573	T	0.11153	0.0272	H	0.96301	3.8	0.19300	N	0.99997	D	0.71674	0.998	D	0.71184	0.972	T	0.03795	-1.1003	10	0.87932	D	0	.	9.0235	0.36215	0.0:1.0:0.0:0.0	.	318	P59901	LIRA4_HUMAN	V	318	ENSP00000291759:G318V	ENSP00000291759:G318V	G	-	2	0	LILRA4	59540226	0.000000	0.05858	0.034000	0.17996	0.035000	0.12851	-1.457000	0.02374	1.825000	0.53177	0.455000	0.32223	GGA		PASS	0.607	LILRA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000140229.2	NM_012276	Missense_Mutation	15	31	15	31	---	---	---	---
LILRB4	11006	broad.mit.edu	37	19	55179429	55179429	+	Missense_Mutation	SNP	C	C	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr19:55179429C>A	ENST00000391736.1	+	14	1621	c.1306C>A	c.(1306-1308)Cca>Aca	p.P436T	LILRB4_ENST00000391734.3_Missense_Mutation_p.P383T|LILRB4_ENST00000391733.3_Missense_Mutation_p.P437T|LILRB4_ENST00000270452.2_Missense_Mutation_p.P436T|LILRB4_ENST00000430952.2_Missense_Mutation_p.P435T	NM_001278426.2|NM_001278428.2|NM_001278429.2|NM_001278430.2	NP_001265355.1|NP_001265357.1|NP_001265358.1|NP_001265359.1	Q8NHJ6	LIRB4_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 4	436					immune system process (GO:0002376)|negative regulation of osteoclast differentiation (GO:0045671)|signal transduction (GO:0007165)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	antigen binding (GO:0003823)|receptor activity (GO:0004872)	p.P436T(1)		breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(20)|ovary(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(3)	39				GBM - Glioblastoma multiforme(193;0.035)		AGGGGCCTCTCCAGCTGAGCC	0.602																																						uc002qgp.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)	3						c.(1306-1308)CCA>ACA		leukocyte immunoglobulin-like receptor,							86.0	88.0	87.0					19																	55179429		2203	4300	6503	SO:0001583	missense	11006					integral to membrane|plasma membrane	antigen binding|receptor activity	g.chr19:55179429C>A	U82979	CCDS12902.1, CCDS42618.1	19q13.4	2013-01-11				ENSG00000186818		"""Leukocyte immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6608	protein-coding gene	gene with protein product		604821				9151699, 9079806	Standard	XM_005277050		Approved	LIR-5, ILT3, HM18, LIR5, CD85k	uc002qgp.3	Q8NHJ6		ENST00000391736.1:c.1306C>A	19.37:g.55179429C>A	ENSP00000375616:p.Pro436Thr					LILRB4_uc002qgq.2_Missense_Mutation_p.P435T|LILRB4_uc002qgr.2_Missense_Mutation_p.P478T|LILRB4_uc010ert.2_Missense_Mutation_p.P477T|LILRB4_uc010eru.2_Missense_Mutation_p.P466T	p.P436T	NM_006847	NP_006838	Q8NHJ6	LIRB4_HUMAN		GBM - Glioblastoma multiforme(193;0.035)	12	1668	+			436			Cytoplasmic (Potential).		A8MVL8|O15468|O75021|Q6FGQ9|Q8N1C7|Q8NHL5	Missense_Mutation	SNP	ENST00000391736.1	37	c.1306C>A	CCDS12902.1	.	.	.	.	.	.	.	.	.	.	C	3.556	-0.090713	0.07053	.	.	ENSG00000186818	ENST00000391736;ENST00000270452;ENST00000430952;ENST00000391734;ENST00000391733	T;T;T;T;T	0.00491	7.02;7.02;7.02;7.09;7.03	1.54	-0.904	0.10530	.	.	.	.	.	T	0.00608	0.0020	M	0.77103	2.36	0.09310	N	1	B;B;P;B	0.38078	0.124;0.197;0.617;0.01	B;B;B;B	0.37144	0.02;0.044;0.242;0.01	T	0.36040	-0.9764	9	0.87932	D	0	.	6.1436	0.20273	0.0:0.6456:0.0:0.3544	.	383;437;435;436	A8MUE1;Q8NHJ6-3;Q8NHJ6-2;Q8NHJ6	.;.;.;LIRB4_HUMAN	T	436;436;435;383;437	ENSP00000375616:P436T;ENSP00000270452:P436T;ENSP00000408995:P435T;ENSP00000375614:P383T;ENSP00000375613:P437T	ENSP00000270452:P436T	P	+	1	0	LILRB4	59871241	0.000000	0.05858	0.001000	0.08648	0.007000	0.05969	-0.209000	0.09358	-0.571000	0.06014	-1.478000	0.00992	CCA		PASS	0.602	LILRB4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000141127.3			49	98	49	98	---	---	---	---
KIR3DL1	3811	broad.mit.edu	37	19	55315366	55315366	+	Intron	SNP	G	G	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr19:55315366G>T	ENST00000538269.1	+	2	61				KIR2DL4_ENST00000359085.4_Missense_Mutation_p.V21L|KIR2DL4_ENST00000463062.1_3'UTR|KIR2DL4_ENST00000345540.5_Missense_Mutation_p.V21L|KIR2DL4_ENST00000357494.4_Missense_Mutation_p.V21L|KIR3DL1_ENST00000402254.2_Intron|KIR2DL4_ENST00000396284.2_Missense_Mutation_p.V19L|KIR2DL4_ENST00000346587.4_Missense_Mutation_p.V21L|KIR3DL1_ENST00000541392.1_Intron|KIR2DL4_ENST00000396293.1_Missense_Mutation_p.V21L			P43629	KI3L1_HUMAN	killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 1						immune response (GO:0006955)|regulation of immune response (GO:0050776)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	HLA-B specific inhibitory MHC class I receptor activity (GO:0030109)	p.V21L(2)		breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	11				GBM - Glioblastoma multiforme(193;0.0192)		GGACCAGAGTGTGTGGGCACA	0.532																																						uc010yfm.1																			2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(61-63)GTG>TTG		killer cell immunoglobulin-like receptor, two							132.0	136.0	135.0					19																	55315366		2059	4078	6137	SO:0001627	intron_variant	3805				cellular defense response|regulation of immune response	integral to plasma membrane	protein binding|transmembrane receptor activity	g.chr19:55315366G>T	L41269	CCDS42621.1	19q13.4	2014-05-22			ENSG00000167633	ENSG00000167633		"""Killer cell immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6338	protein-coding gene	gene with protein product		604946		KIR		7716543, 7749980	Standard	NM_013289		Approved	cl-2, NKB1, cl-11, nkat3, NKB1B, AMB11, CD158e1/2, CD158E1, CD158e2		P43629	OTTHUMG00000065933	ENST00000538269.1:c.35-13623G>T	19.37:g.55315366G>T						KIR2DS4_uc010yfj.1_Intron|KIR2DS4_uc010yfk.1_Intron|KIR2DL4_uc010yfl.1_Missense_Mutation_p.V16L|KIR2DL4_uc002qhg.2_Missense_Mutation_p.V21L|KIR2DL4_uc002qhi.2_Missense_Mutation_p.V21L|KIR2DL4_uc002qhh.2_Missense_Mutation_p.V21L|KIR2DL4_uc002qhj.2_Missense_Mutation_p.V21L|KIR2DL4_uc002qhf.2_Missense_Mutation_p.V21L|KIR2DL4_uc010esd.2_Missense_Mutation_p.V21L|KIR2DL4_uc010ese.2_5'Flank	p.V21L	NM_002255	NP_002246	Q99706	KI2L4_HUMAN		GBM - Glioblastoma multiforme(193;0.0192)	2	101	+			21					O43473|Q14946|Q16541	Missense_Mutation	SNP	ENST00000538269.1	37	c.61G>T		.	.	.	.	.	.	.	.	.	.	G	7.203	0.593899	0.13875	.	.	ENSG00000189013	ENST00000396284;ENST00000359085;ENST00000345540;ENST00000357494;ENST00000396293;ENST00000346587;ENST00000396289	T;T;T;T;T;T;T	0.00498	7.27;7.18;7.12;7.08;6.97;7.07;7.3	1.22	-0.8	0.10897	.	4.219030	0.02068	U	0.051306	T	0.00412	0.0013	N	0.22421	0.69	0.09310	N	1	B;B;B;B;B;B;B;B	0.23735	0.087;0.032;0.054;0.055;0.041;0.001;0.09;0.06	B;B;B;B;B;B;B;B	0.25614	0.037;0.028;0.028;0.043;0.061;0.0;0.062;0.022	T	0.45687	-0.9244	10	0.87932	D	0	.	3.7296	0.08488	0.5135:0.0:0.4865:0.0	.	21;19;21;21;21;21;21;21	Q99706;E7EST5;Q8N741;Q99706-4;Q99706-2;Q8N736;Q99706-3;Q8N738	KI2L4_HUMAN;.;.;.;.;.;.;.	L	19;21;21;21;21;21;19	ENSP00000379580:V19L;ENSP00000351988:V21L;ENSP00000339634:V21L;ENSP00000350088:V21L;ENSP00000379588:V21L;ENSP00000345331:V21L;ENSP00000379584:V19L	ENSP00000339634:V21L	V	+	1	0	KIR2DL4	60007178	0.000000	0.05858	0.002000	0.10522	0.229000	0.25112	-0.393000	0.07305	-0.240000	0.09696	0.134000	0.15878	GTG		PASS	0.532	KIR3DL1-202	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_013289		82	113	82	113	---	---	---	---
NLRP13	126204	broad.mit.edu	37	19	56443408	56443408	+	Missense_Mutation	SNP	C	C	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr19:56443408C>A	ENST00000342929.3	-	1	269	c.270G>T	c.(268-270)caG>caT	p.Q90H	NLRP13_ENST00000588751.1_Missense_Mutation_p.Q90H	NM_176810.2	NP_789780.2	Q86W25	NAL13_HUMAN	NLR family, pyrin domain containing 13	90	DAPIN. {ECO:0000255|PROSITE- ProRule:PRU00061}.						ATP binding (GO:0005524)	p.Q90H(1)		NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(58)|ovary(4)|pancreas(2)|prostate(2)|skin(13)|stomach(2)|urinary_tract(1)	109		Colorectal(82;3.48e-05)|Ovarian(87;0.0481)|Renal(1328;0.218)		GBM - Glioblastoma multiforme(193;0.0642)		GATTCATTGTCTGGAAGATGC	0.512																																						uc010ygg.1																			1	Substitution - Missense(1)		lung(1)	skin(4)|ovary(3)|pancreas(1)|lung(1)	9						c.(268-270)CAG>CAT		NACHT, leucine rich repeat and PYD containing							63.0	57.0	59.0					19																	56443408		2203	4300	6503	SO:0001583	missense	126204						ATP binding	g.chr19:56443408C>A	AY154468	CCDS33119.1	19q13.43	2008-02-05	2006-12-08	2006-12-08	ENSG00000173572	ENSG00000173572		"""Nucleotide-binding domain and leucine rich repeat containing"""	22937	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 13"""	609660	"""NACHT, leucine rich repeat and PYD containing 13"""	NALP13		12563287	Standard	NM_176810		Approved	NOD14, PAN13, CLR19.7	uc010ygg.2	Q86W25	OTTHUMG00000167839	ENST00000342929.3:c.270G>T	19.37:g.56443408C>A	ENSP00000343891:p.Gln90His						p.Q90H	NM_176810	NP_789780	Q86W25	NAL13_HUMAN		GBM - Glioblastoma multiforme(193;0.0642)	1	295	-		Colorectal(82;3.48e-05)|Ovarian(87;0.0481)|Renal(1328;0.218)	90			DAPIN.		Q7RTR5	Missense_Mutation	SNP	ENST00000342929.3	37	c.270G>T	CCDS33119.1	.	.	.	.	.	.	.	.	.	.	C	10.69	1.420262	0.25552	.	.	ENSG00000173572	ENST00000342929	T	0.52057	0.68	1.97	-0.262	0.12958	Pyrin (2);DEATH-like (2);	.	.	.	.	T	0.32164	0.0820	N	0.14661	0.345	0.09310	N	1	D	0.53745	0.962	P	0.49561	0.615	T	0.14282	-1.0478	9	0.51188	T	0.08	.	3.262	0.06851	0.0:0.5476:0.2784:0.1739	.	90	Q86W25	NAL13_HUMAN	H	90	ENSP00000343891:Q90H	ENSP00000343891:Q90H	Q	-	3	2	NLRP13	61135220	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.299000	0.08254	0.006000	0.14734	-0.226000	0.12346	CAG		PASS	0.512	NLRP13-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000396560.1	NM_176810		24	107	24	107	---	---	---	---
NLRP8	126205	broad.mit.edu	37	19	56466446	56466446	+	Missense_Mutation	SNP	C	C	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr19:56466446C>A	ENST00000291971.3	+	3	1093	c.1022C>A	c.(1021-1023)aCa>aAa	p.T341K	NLRP8_ENST00000590542.1_Missense_Mutation_p.T341K	NM_176811.2	NP_789781.2	Q86W28	NALP8_HUMAN	NLR family, pyrin domain containing 8	341	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.				neuron death (GO:0070997)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)	p.T341K(1)		breast(4)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|ovary(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)	35		Colorectal(82;0.000147)|Ovarian(87;0.17)		GBM - Glioblastoma multiforme(193;0.0695)		TCTTGGCAGACATGCAAGCCC	0.458																																						uc002qmh.2																			1	Substitution - Missense(1)		lung(1)	ovary(4)|breast(3)|central_nervous_system(2)|skin(2)|large_intestine(1)|kidney(1)	13						c.(1021-1023)ACA>AAA		NLR family, pyrin domain containing 8							89.0	89.0	89.0					19																	56466446		2203	4300	6503	SO:0001583	missense	126205					cytoplasm	ATP binding	g.chr19:56466446C>A	AY154463	CCDS12937.1	19q13.43	2008-02-05	2006-12-08	2006-12-08		ENSG00000179709		"""Nucleotide-binding domain and leucine rich repeat containing"""	22940	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 8"""	609659	"""NACHT, leucine rich repeat and PYD containing 8"""	NALP8		12563287	Standard	NM_176811		Approved	NOD16, PAN4, CLR19.2	uc002qmh.3	Q86W28		ENST00000291971.3:c.1022C>A	19.37:g.56466446C>A	ENSP00000291971:p.Thr341Lys					NLRP8_uc010etg.2_Missense_Mutation_p.T341K	p.T341K	NM_176811	NP_789781	Q86W28	NALP8_HUMAN		GBM - Glioblastoma multiforme(193;0.0695)	3	1093	+		Colorectal(82;0.000147)|Ovarian(87;0.17)	341			NACHT.		Q7RTR4	Missense_Mutation	SNP	ENST00000291971.3	37	c.1022C>A	CCDS12937.1	.	.	.	.	.	.	.	.	.	.	C	0.004	-2.339190	0.00224	.	.	ENSG00000179709	ENST00000291971	T	0.76578	-1.03	2.04	-4.08	0.03963	.	.	.	.	.	T	0.36193	0.0958	N	0.00859	-1.14	0.09310	N	1	B;B	0.19445	0.036;0.004	B;B	0.12156	0.007;0.007	T	0.32771	-0.9894	9	0.02654	T	1	.	4.0837	0.09937	0.1934:0.4026:0.0:0.404	.	341;341	Q86W28-2;Q86W28	.;NALP8_HUMAN	K	341	ENSP00000291971:T341K	ENSP00000291971:T341K	T	+	2	0	NLRP8	61158258	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.210000	0.09345	-1.925000	0.01063	-0.351000	0.07748	ACA		PASS	0.458	NLRP8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457462.1	NM_176811		79	95	79	95	---	---	---	---
NLRP8	126205	broad.mit.edu	37	19	56487655	56487655	+	Silent	SNP	A	A	G			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr19:56487655A>G	ENST00000291971.3	+	8	2933	c.2862A>G	c.(2860-2862)acA>acG	p.T954T	NLRP8_ENST00000590542.1_Silent_p.T935T	NM_176811.2	NP_789781.2	Q86W28	NALP8_HUMAN	NLR family, pyrin domain containing 8	954					neuron death (GO:0070997)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)	p.T954T(1)		breast(4)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|ovary(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)	35		Colorectal(82;0.000147)|Ovarian(87;0.17)		GBM - Glioblastoma multiforme(193;0.0695)		CTGACTGTACATTACAGATCC	0.453																																						uc002qmh.2																			1	Substitution - coding silent(1)		lung(1)	ovary(4)|breast(3)|central_nervous_system(2)|skin(2)|large_intestine(1)|kidney(1)	13						c.(2860-2862)ACA>ACG		NLR family, pyrin domain containing 8							128.0	125.0	126.0					19																	56487655		2203	4300	6503	SO:0001819	synonymous_variant	126205					cytoplasm	ATP binding	g.chr19:56487655A>G	AY154463	CCDS12937.1	19q13.43	2008-02-05	2006-12-08	2006-12-08		ENSG00000179709		"""Nucleotide-binding domain and leucine rich repeat containing"""	22940	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 8"""	609659	"""NACHT, leucine rich repeat and PYD containing 8"""	NALP8		12563287	Standard	NM_176811		Approved	NOD16, PAN4, CLR19.2	uc002qmh.3	Q86W28		ENST00000291971.3:c.2862A>G	19.37:g.56487655A>G						NLRP8_uc010etg.2_Silent_p.T935T	p.T954T	NM_176811	NP_789781	Q86W28	NALP8_HUMAN		GBM - Glioblastoma multiforme(193;0.0695)	8	2933	+		Colorectal(82;0.000147)|Ovarian(87;0.17)	954					Q7RTR4	Silent	SNP	ENST00000291971.3	37	c.2862A>G	CCDS12937.1																																																																																				PASS	0.453	NLRP8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457462.1	NM_176811		49	62	49	62	---	---	---	---
ZNF470	388566	broad.mit.edu	37	19	57086048	57086048	+	Missense_Mutation	SNP	C	C	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr19:57086048C>A	ENST00000330619.8	+	5	915	c.229C>A	c.(229-231)Caa>Aaa	p.Q77K	ZNF470_ENST00000391709.3_Missense_Mutation_p.Q77K|ZNF470_ENST00000601902.1_Missense_Mutation_p.Q77K	NM_001001668.3	NP_001001668.3	Q6ECI4	ZN470_HUMAN	zinc finger protein 470	77	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.Q77K(1)		endometrium(7)|large_intestine(12)|lung(11)|ovary(1)|pancreas(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	41		Colorectal(82;5.46e-05)|Ovarian(87;0.0822)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0294)		CTTACTGGAGCAAGAGAAAGA	0.418																																						uc002qnl.3																			1	Substitution - Missense(1)		lung(1)	ovary(1)|pancreas(1)	2						c.(229-231)CAA>AAA		zinc finger protein 470							80.0	78.0	79.0					19																	57086048		2203	4300	6503	SO:0001583	missense	388566				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:57086048C>A	AK129686	CCDS33122.1	19q13.43	2013-01-08				ENSG00000197016		"""Zinc fingers, C2H2-type"", ""-"""	22220	protein-coding gene	gene with protein product						15302581	Standard	NM_001001668		Approved	CZF-1, FLJ26175	uc002qnl.4	Q6ECI4		ENST00000330619.8:c.229C>A	19.37:g.57086048C>A	ENSP00000333223:p.Gln77Lys					ZNF470_uc010etn.2_RNA	p.Q77K	NM_001001668	NP_001001668	Q6ECI4	ZN470_HUMAN		GBM - Glioblastoma multiforme(193;0.0294)	5	905	+		Colorectal(82;5.46e-05)|Ovarian(87;0.0822)|Renal(1328;0.157)	77			KRAB.		A8MTW0|B9EGU1|Q6ZPA1|Q9Y2N9	Missense_Mutation	SNP	ENST00000330619.8	37	c.229C>A	CCDS33122.1	.	.	.	.	.	.	.	.	.	.	C	12.65	2.001301	0.35320	.	.	ENSG00000197016	ENST00000391709;ENST00000330619	T;T	0.00949	5.51;5.51	3.73	3.73	0.42828	Krueppel-associated box (3);	.	.	.	.	T	0.02304	0.0071	L	0.45228	1.405	0.25933	N	0.982975	P	0.40332	0.713	P	0.51742	0.678	T	0.46119	-0.9214	9	0.51188	T	0.08	.	11.2119	0.48804	0.0:1.0:0.0:0.0	.	77	Q6ECI4	ZN470_HUMAN	K	77	ENSP00000375590:Q77K;ENSP00000333223:Q77K	ENSP00000333223:Q77K	Q	+	1	0	ZNF470	61777860	1.000000	0.71417	0.982000	0.44146	0.198000	0.23893	2.433000	0.44793	2.085000	0.62840	0.655000	0.94253	CAA		PASS	0.418	ZNF470-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459707.2	NM_001001668		20	70	20	70	---	---	---	---
ZNF835	90485	broad.mit.edu	37	19	57175464	57175464	+	Missense_Mutation	SNP	C	C	G			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr19:57175464C>G	ENST00000537055.2	-	2	1334	c.1103G>C	c.(1102-1104)gGc>gCc	p.G368A		NM_001005850.2	NP_001005850.2	Q9Y2P0	ZN835_HUMAN	zinc finger protein 835	368					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.G390A(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(22)|pancreas(3)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	47						GAAGCGCTTGCCGCAGTCGTG	0.701																																						uc010ygo.1																			1	Substitution - Missense(1)		lung(1)	pancreas(3)|skin(1)	4						c.(1168-1170)GGC>GCC		zinc finger protein 835							22.0	22.0	22.0					19																	57175464		2200	4296	6496	SO:0001583	missense	90485							g.chr19:57175464C>G	AK023017	CCDS56105.1	19q13.43	2013-01-08			ENSG00000127903	ENSG00000127903		"""Zinc fingers, C2H2-type"""	34332	protein-coding gene	gene with protein product							Standard	NM_001005850		Approved	BC37295_3	uc010ygn.2	Q9Y2P0		ENST00000537055.2:c.1103G>C	19.37:g.57175464C>G	ENSP00000444747:p.Gly368Ala					ZNF835_uc010ygn.1_Missense_Mutation_p.G368A	p.G390A	NM_001005850	NP_001005850					2	1169	-								B7Z5Y0|G3V1S0	Missense_Mutation	SNP	ENST00000537055.2	37	c.1169G>C	CCDS56105.1	.	.	.	.	.	.	.	.	.	.	C	17.73	3.461250	0.63513	.	.	ENSG00000127903	ENST00000342088;ENST00000537055	T	0.07021	3.23	1.93	1.93	0.25924	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.28366	0.0701	M	0.82132	2.575	0.23168	N	0.998181	D	0.89917	1.0	D	0.79108	0.992	T	0.02698	-1.1122	9	0.87932	D	0	.	11.553	0.50731	0.0:1.0:0.0:0.0	.	390	Q9Y2P0	ZN835_HUMAN	A	390;368	ENSP00000444747:G368A	ENSP00000341756:G390A	G	-	2	0	ZNF835	61867276	0.003000	0.15002	0.369000	0.25952	0.414000	0.31173	1.518000	0.35877	1.391000	0.46566	0.561000	0.74099	GGC		PASS	0.701	ZNF835-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459800.1	NM_001005850		5	22	5	22	---	---	---	---
USP29	57663	broad.mit.edu	37	19	57642468	57642468	+	Nonsense_Mutation	SNP	G	G	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr19:57642468G>T	ENST00000254181.4	+	4	2879	c.2425G>T	c.(2425-2427)Gaa>Taa	p.E809*	U3_ENST00000516874.1_RNA|USP29_ENST00000598197.1_Nonsense_Mutation_p.E809*	NM_020903.2	NP_065954.1	Q9HBJ7	UBP29_HUMAN	ubiquitin specific peptidase 29	809	USP.				ubiquitin-dependent protein catabolic process (GO:0006511)		cysteine-type peptidase activity (GO:0008234)|ubiquitin thiolesterase activity (GO:0004221)	p.E809*(1)		breast(3)|endometrium(4)|kidney(3)|large_intestine(15)|lung(47)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	85		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		TGAAGCCAAGGAACTAACAAG	0.478																																						uc002qny.2																			1	Substitution - Nonsense(1)		lung(1)	lung(6)|ovary(2)|breast(2)|pancreas(1)	11						c.(2425-2427)GAA>TAA		ubiquitin specific peptidase 29							71.0	59.0	63.0					19																	57642468		2203	4300	6503	SO:0001587	stop_gained	57663				protein modification process|ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity	g.chr19:57642468G>T		CCDS33124.1	19q13.4	2008-06-23	2005-08-08			ENSG00000131864		"""Ubiquitin-specific peptidases"""	18563	protein-coding gene	gene with protein product		609546	"""ubiquitin specific protease 29"""			12838346	Standard	NM_020903		Approved		uc002qny.3	Q9HBJ7		ENST00000254181.4:c.2425G>T	19.37:g.57642468G>T	ENSP00000254181:p.Glu809*						p.E809*	NM_020903	NP_065954	Q9HBJ7	UBP29_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)	4	2781	+		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)	809						Nonsense_Mutation	SNP	ENST00000254181.4	37	c.2425G>T	CCDS33124.1	.	.	.	.	.	.	.	.	.	.	G	39	7.542901	0.98348	.	.	ENSG00000131864	ENST00000254181	.	.	.	2.57	2.57	0.30868	.	1.020540	0.07900	U	0.972495	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.34782	T	0.22	-1.0088	8.7867	0.34825	0.0:0.0:1.0:0.0	.	.	.	.	X	809	.	ENSP00000254181:E809X	E	+	1	0	USP29	62334280	0.975000	0.34042	0.002000	0.10522	0.014000	0.08584	2.484000	0.45242	1.714000	0.51371	0.467000	0.42956	GAA		PASS	0.478	USP29-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465075.1			16	24	16	24	---	---	---	---
ZIM3	114026	broad.mit.edu	37	19	57646928	57646928	+	Silent	SNP	G	G	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr19:57646928G>T	ENST00000269834.1	-	5	1162	c.777C>A	c.(775-777)gcC>gcA	p.A259A	U3_ENST00000516874.1_RNA	NM_052882.1	NP_443114.1	Q96PE6	ZIM3_HUMAN	zinc finger, imprinted 3	259					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.A259A(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(27)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(1)	52		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.243)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		TCCAGGAAAAGGCTTTTCCAC	0.368																																						uc002qnz.1																			1	Substitution - coding silent(1)		lung(1)	pancreas(1)|skin(1)	2						c.(775-777)GCC>GCA		zinc finger, imprinted 3							126.0	123.0	124.0					19																	57646928		2203	4300	6503	SO:0001819	synonymous_variant	114026				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:57646928G>T	AF365931	CCDS33125.1	19q13.4	2013-01-08				ENSG00000141946		"""Zinc fingers, C2H2-type"", ""-"""	16366	protein-coding gene	gene with protein product							Standard	NM_052882		Approved	ZNF657	uc002qnz.1	Q96PE6		ENST00000269834.1:c.777C>A	19.37:g.57646928G>T							p.A259A	NM_052882	NP_443114	Q96PE6	ZIM3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)	5	1163	-		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.243)	259			C2H2-type 4.		Q14CA6	Silent	SNP	ENST00000269834.1	37	c.777C>A	CCDS33125.1																																																																																				PASS	0.368	ZIM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465078.1			65	142	65	142	---	---	---	---
ZNF304	57343	broad.mit.edu	37	19	57868780	57868780	+	Missense_Mutation	SNP	A	A	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr19:57868780A>T	ENST00000282286.5	+	3	1716	c.1543A>T	c.(1543-1545)Agc>Tgc	p.S515C	ZNF304_ENST00000391705.3_Missense_Mutation_p.S515C|ZNF304_ENST00000443917.2_Missense_Mutation_p.S562C|ZNF304_ENST00000598744.1_Missense_Mutation_p.S473C			Q9HCX3	ZN304_HUMAN	zinc finger protein 304	515					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.S515C(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(1)	26		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;0.0265)		CTTCAGCCATAGCTCCAACCT	0.443																																						uc010ygw.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1543-1545)AGC>TGC		zinc finger protein 304							84.0	83.0	83.0					19																	57868780		2203	4300	6503	SO:0001583	missense	57343				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:57868780A>T	AJ276316	CCDS12950.1, CCDS74462.1	19q13.4	2013-01-08				ENSG00000131845		"""Zinc fingers, C2H2-type"", ""-"""	13505	protein-coding gene	gene with protein product		613840					Standard	XM_005259090		Approved		uc010ygw.2	Q9HCX3		ENST00000282286.5:c.1543A>T	19.37:g.57868780A>T	ENSP00000282286:p.Ser515Cys					ZNF304_uc010etw.2_Missense_Mutation_p.S562C|ZNF304_uc010etx.2_Missense_Mutation_p.S473C	p.S515C	NM_020657	NP_065708	Q9HCX3	ZN304_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0265)	3	1931	+		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)	515			C2H2-type 12.			Missense_Mutation	SNP	ENST00000282286.5	37	c.1543A>T	CCDS12950.1	.	.	.	.	.	.	.	.	.	.	A	15.12	2.738793	0.49045	.	.	ENSG00000131845	ENST00000282286;ENST00000391705;ENST00000443917	T;T;T	0.10763	2.84;2.84;3.14	4.7	3.68	0.42216	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.19765	0.0475	L	0.39898	1.24	0.09310	N	1	D;D	0.76494	0.994;0.999	P;D	0.70716	0.625;0.97	T	0.07139	-1.0788	9	0.59425	D	0.04	.	5.9121	0.19035	0.7396:0.1698:0.0906:0.0	.	515;562	Q9HCX3;E7EQD3	ZN304_HUMAN;.	C	515;515;562	ENSP00000282286:S515C;ENSP00000375586:S515C;ENSP00000401642:S562C	ENSP00000282286:S515C	S	+	1	0	ZNF304	62560592	0.000000	0.05858	0.884000	0.34674	0.948000	0.59901	0.858000	0.27845	2.100000	0.63781	0.528000	0.53228	AGC		PASS	0.443	ZNF304-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000465785.1			11	39	11	39	---	---	---	---
ZNF417	147687	broad.mit.edu	37	19	58420355	58420355	+	Missense_Mutation	SNP	T	T	C			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr19:58420355T>C	ENST00000312026.5	-	3	1455	c.1291A>G	c.(1291-1293)Act>Gct	p.T431A	ZNF417_ENST00000536263.1_Missense_Mutation_p.T232A|ZNF417_ENST00000595559.1_Missense_Mutation_p.T430A|CTD-2583A14.9_ENST00000602124.1_Intron	NM_152475.2	NP_689688.2	Q8TAU3	ZN417_HUMAN	zinc finger protein 417	431					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.T431A(1)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|stomach(3)|upper_aerodigestive_tract(1)	18		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0151)		CTTTCCCCAGTGTGAAGTCTC	0.443																																						uc002qqq.2																			1	Substitution - Missense(1)		lung(1)		0						c.(1291-1293)ACT>GCT		zinc finger protein 417							87.0	76.0	80.0					19																	58420355		2203	4297	6500	SO:0001583	missense	147687				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:58420355T>C	BC025783	CCDS12965.1, CCDS74469.1	19q13.43	2013-01-08				ENSG00000173480		"""Zinc fingers, C2H2-type"", ""-"""	20646	protein-coding gene	gene with protein product							Standard	NM_152475		Approved	MGC34079	uc002qqq.3	Q8TAU3		ENST00000312026.5:c.1291A>G	19.37:g.58420355T>C	ENSP00000311319:p.Thr431Ala					ZNF417_uc010yhm.1_Missense_Mutation_p.T388A|ZNF417_uc002qqr.2_Missense_Mutation_p.T430A	p.T431A	NM_152475	NP_689688	Q8TAU3	ZN417_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0151)	3	1490	-		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)	431					B4DEU1	Missense_Mutation	SNP	ENST00000312026.5	37	c.1291A>G	CCDS12965.1	.	.	.	.	.	.	.	.	.	.	.	22.6	4.306432	0.81247	.	.	ENSG00000173480	ENST00000312026;ENST00000536263	T;T	0.26518	1.73;1.73	2.21	1.1	0.20463	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.19127	0.0459	L	0.41356	1.27	0.21147	N	0.999774	B;B	0.26195	0.118;0.144	B;B	0.21151	0.019;0.033	T	0.21348	-1.0248	9	0.87932	D	0	.	6.5594	0.22478	0.0:0.1355:0.0:0.8645	.	431;431	F5H0M9;Q8TAU3	.;ZN417_HUMAN	A	431;232	ENSP00000311319:T431A;ENSP00000442760:T232A	ENSP00000311319:T431A	T	-	1	0	ZNF417	63112167	0.968000	0.33430	0.003000	0.11579	0.909000	0.53808	1.691000	0.37721	0.089000	0.17243	0.254000	0.18369	ACT		PASS	0.443	ZNF417-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000466860.1	NM_152475		65	81	65	81	---	---	---	---
ZSCAN1	284312	broad.mit.edu	37	19	58565188	58565188	+	Missense_Mutation	SNP	C	C	G			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr19:58565188C>G	ENST00000282326.1	+	6	1243	c.996C>G	c.(994-996)aaC>aaG	p.N332K		NM_182572.3	NP_872378.3	Q8NBB4	ZSCA1_HUMAN	zinc finger and SCAN domain containing 1	332					regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|transcription coactivator activity (GO:0003713)	p.N332N(1)|p.N332K(1)		NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	48		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0152)		TCCTGCACAACTCCGTCCTCA	0.637																																						uc002qrc.1																			2	Substitution - Missense(1)|Substitution - coding silent(1)		lung(2)	ovary(2)	2						c.(994-996)AAC>AAG		zinc finger and SCAN domain containing 1							67.0	59.0	62.0					19																	58565188		2203	4300	6503	SO:0001583	missense	284312				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:58565188C>G	AK091098	CCDS12969.1	19q13.43	2013-06-13	2004-04-21		ENSG00000152467	ENSG00000152467		"""-"", ""Zinc fingers, C2H2-type"""	23712	protein-coding gene	gene with protein product			"""zinc finger with SCAN domain 1"""			12477932	Standard	NM_182572		Approved	FLJ33779, ZNF915	uc002qrc.1	Q8NBB4	OTTHUMG00000183381	ENST00000282326.1:c.996C>G	19.37:g.58565188C>G	ENSP00000282326:p.Asn332Lys						p.N332K	NM_182572	NP_872378	Q8NBB4	ZSCA1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0152)	6	1243	+		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)	332			C2H2-type 2.		Q3B798|Q6WLH8|Q86WS8	Missense_Mutation	SNP	ENST00000282326.1	37	c.996C>G	CCDS12969.1	.	.	.	.	.	.	.	.	.	.	C	5.001	0.185863	0.09495	.	.	ENSG00000152467	ENST00000282326	T	0.26067	1.76	1.38	0.268	0.15626	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.10809	0.0264	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.25984	-1.0116	9	0.44086	T	0.13	.	2.8852	0.05659	0.0:0.5003:0.2964:0.2033	.	332	Q8NBB4	ZSCA1_HUMAN	K	332	ENSP00000282326:N332K	ENSP00000282326:N332K	N	+	3	2	ZSCAN1	63257000	0.000000	0.05858	0.002000	0.10522	0.007000	0.05969	-0.575000	0.05861	0.133000	0.18654	0.491000	0.48974	AAC		PASS	0.637	ZSCAN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466427.1	NM_182572		36	55	36	55	---	---	---	---
ZNF135	7694	broad.mit.edu	37	19	58578318	58578318	+	Missense_Mutation	SNP	G	G	C	rs377375710		TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr19:58578318G>C	ENST00000313434.5	+	5	567	c.466G>C	c.(466-468)Gtt>Ctt	p.V156L	ZNF135_ENST00000359978.6_Missense_Mutation_p.V168L|ZNF135_ENST00000511556.1_Missense_Mutation_p.V168L|ZNF135_ENST00000401053.4_Missense_Mutation_p.V180L|ZNF135_ENST00000439855.2_Missense_Mutation_p.V156L|ZNF135_ENST00000506786.1_Missense_Mutation_p.V114L	NM_003436.3	NP_003427.3	P52742	ZN135_HUMAN	zinc finger protein 135	156					cytoskeleton organization (GO:0007010)|regulation of cell morphogenesis (GO:0022604)|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.V156L(1)|p.V180L(1)		breast(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(26)|ovary(1)|skin(1)|urinary_tract(1)	41		Colorectal(82;0.000256)|all_neural(62;0.0412)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0161)		GAAGACGCCTGTTCTGGAGCA	0.557																																						uc010yhq.1																			2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(502-504)GTT>CTT		zinc finger protein 135 isoform 2							72.0	63.0	66.0					19																	58578318		2203	4300	6503	SO:0001583	missense	7694				regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding	g.chr19:58578318G>C	U09413	CCDS12970.1, CCDS12970.2, CCDS54329.1, CCDS54330.1, CCDS74471.1, CCDS74472.1	19q13.4	2013-01-08	2006-05-12			ENSG00000176293		"""Zinc fingers, C2H2-type"", ""-"""	12919	protein-coding gene	gene with protein product		604077	"""zinc finger protein 61"", ""zinc finger protein 135 (clone pHZ-17)"""	ZNF61, ZNF78L1		7557990, 1505991	Standard	NM_003436		Approved	pHZ-17	uc002qrg.3	P52742		ENST00000313434.5:c.466G>C	19.37:g.58578318G>C	ENSP00000321406:p.Val156Leu					ZNF135_uc002qre.2_Missense_Mutation_p.V156L|ZNF135_uc002qrd.1_Missense_Mutation_p.V114L|ZNF135_uc002qrf.2_Missense_Mutation_p.V114L|ZNF135_uc002qrg.2_Missense_Mutation_p.V126L|ZNF135_uc010yhr.1_5'UTR	p.V168L	NM_003436	NP_003427	B4DHH9	B4DHH9_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0161)	5	598	+		Colorectal(82;0.000256)|all_neural(62;0.0412)|Breast(46;0.147)|Ovarian(87;0.156)	168					B4DHH9|E9PEV2|F5GYY9|I3L0B3|Q5U5L3|Q8N1I7	Missense_Mutation	SNP	ENST00000313434.5	37	c.502G>C		.	.	.	.	.	.	.	.	.	.	G	5.839	0.339013	0.11069	.	.	ENSG00000176293	ENST00000504540;ENST00000401053;ENST00000359978;ENST00000439855;ENST00000313434;ENST00000511556;ENST00000506786	T;T;T;T;T;T	0.05580	3.51;3.6;3.53;3.53;3.52;3.42	3.48	1.14	0.20703	.	.	.	.	.	T	0.02688	0.0081	N	0.08118	0	0.09310	N	1	B;B;B	0.14438	0.003;0.003;0.01	B;B;B	0.06405	0.002;0.002;0.002	T	0.47381	-0.9122	9	0.22109	T	0.4	.	2.4414	0.04495	0.4831:0.0:0.3031:0.2138	.	168;156;168	E9PEV2;P52742;Q8N1I7	.;ZN135_HUMAN;.	L	168;180;168;156;156;168;114	ENSP00000441410:V180L;ENSP00000369437:V168L;ENSP00000444828:V156L;ENSP00000321406:V156L;ENSP00000422074:V168L;ENSP00000427691:V114L	ENSP00000321406:V156L	V	+	1	0	ZNF135	63270130	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.185000	0.09684	0.072000	0.16694	-0.484000	0.04775	GTT		PASS	0.557	ZNF135-003	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000361899.2	NM_003436		39	66	39	66	---	---	---	---
ZNF329	79673	broad.mit.edu	37	19	58639368	58639368	+	Missense_Mutation	SNP	A	A	C			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr19:58639368A>C	ENST00000598312.1	-	4	1736	c.1503T>G	c.(1501-1503)caT>caG	p.H501Q	ZNF329_ENST00000358067.4_Missense_Mutation_p.H501Q	NM_024620.3	NP_078896.3	Q86UD4	ZN329_HUMAN	zinc finger protein 329	501					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.H501Q(1)		NS(1)|large_intestine(10)|lung(5)|skin(3)|urinary_tract(1)	20		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.029)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.017)|Lung(386;0.216)		GGAGTCTCTGATGTACTGCCA	0.512																																						uc002qrn.2																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(1501-1503)CAT>CAG		zinc finger protein 329							147.0	141.0	143.0					19																	58639368		2203	4300	6503	SO:0001583	missense	79673				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:58639368A>C	AK022648	CCDS12972.1	19q13.43	2013-01-08				ENSG00000181894		"""Zinc fingers, C2H2-type"""	14209	protein-coding gene	gene with protein product							Standard	XM_006723381		Approved	FLJ12586	uc002qrn.3	Q86UD4		ENST00000598312.1:c.1503T>G	19.37:g.58639368A>C	ENSP00000470008:p.His501Gln					ZNF329_uc010euk.1_RNA|ZNF329_uc002qro.1_RNA|ZNF329_uc002qrp.1_RNA	p.H501Q	NM_024620	NP_078896	Q86UD4	ZN329_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.017)|Lung(386;0.216)	4	1740	-		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.029)|Ovarian(87;0.0443)|Renal(1328;0.157)	501			C2H2-type 11.		B3KR32|Q9H9R7	Missense_Mutation	SNP	ENST00000598312.1	37	c.1503T>G	CCDS12972.1	.	.	.	.	.	.	.	.	.	.	A	12.41	1.928196	0.34002	.	.	ENSG00000181894	ENST00000358067;ENST00000500161	T;T	0.52983	0.64;0.64	4.31	-0.216	0.13153	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.43110	D	0.000609	T	0.70133	0.3189	M	0.92412	3.305	0.37018	D	0.896067	D	0.89917	1.0	D	0.83275	0.996	T	0.73978	-0.3812	10	0.87932	D	0	-13.1592	8.9631	0.35860	0.5948:0.0:0.4052:0.0	.	501	Q86UD4	ZN329_HUMAN	Q	501	ENSP00000350773:H501Q;ENSP00000439527:H501Q	ENSP00000350773:H501Q	H	-	3	2	ZNF329	63331180	0.961000	0.32948	0.992000	0.48379	0.988000	0.76386	0.666000	0.25097	-0.088000	0.12506	0.533000	0.62120	CAT		PASS	0.512	ZNF329-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466724.1	NM_024620		61	221	61	221	---	---	---	---
DEFB128	245939	broad.mit.edu	37	20	170231	170231	+	Missense_Mutation	SNP	A	A	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr20:170231A>T	ENST00000334391.4	-	1	91	c.34T>A	c.(34-36)Ttt>Att	p.F12I		NM_001037732.1	NP_001032821.1	Q7Z7B8	DB128_HUMAN	defensin, beta 128	12					defense response to bacterium (GO:0042742)	extracellular region (GO:0005576)		p.F12I(1)		breast(1)|endometrium(1)|large_intestine(1)|lung(2)	5		all_cancers(10;0.00499)|Lung NSC(37;0.227)	OV - Ovarian serous cystadenocarcinoma(29;0.122)			AGTACCTCAAACAGCAGAATA	0.383																																						uc002wcz.1																			1	Substitution - Missense(1)		lung(1)	breast(1)	1						c.(34-36)TTT>ATT		beta-defensin 128 precursor							144.0	146.0	145.0					20																	170231		2203	4300	6503	SO:0001583	missense	245939				defense response to bacterium	extracellular region		g.chr20:170231A>T	AF525930	CCDS33430.1	20p13	2011-03-29			ENSG00000185982	ENSG00000185982		"""Defensins, beta"""	18106	protein-coding gene	gene with protein product	"""defensin, beta 28"""					11854508, 16033865	Standard	NM_001037732		Approved	DEFB-28	uc002wcz.1	Q7Z7B8	OTTHUMG00000043057	ENST00000334391.4:c.34T>A	20.37:g.170231A>T	ENSP00000335382:p.Phe12Ile						p.F12I	NM_001037732	NP_001032821	Q7Z7B8	DB128_HUMAN	OV - Ovarian serous cystadenocarcinoma(29;0.122)		1	34	-		all_cancers(10;0.00499)|Lung NSC(37;0.227)	12					B2RU29	Missense_Mutation	SNP	ENST00000334391.4	37	c.34T>A	CCDS33430.1	.	.	.	.	.	.	.	.	.	.	a	16.07	3.019635	0.54576	.	.	ENSG00000185982	ENST00000334391	T	0.17528	2.27	4.4	4.4	0.53042	.	0.478345	0.17875	N	0.159065	T	0.31544	0.0800	.	.	.	0.26597	N	0.973084	D	0.69078	0.997	P	0.58013	0.831	T	0.07424	-1.0773	9	0.72032	D	0.01	-13.1736	10.327	0.43798	1.0:0.0:0.0:0.0	.	12	Q7Z7B8	DB128_HUMAN	I	12	ENSP00000335382:F12I	ENSP00000335382:F12I	F	-	1	0	DEFB128	118231	0.914000	0.31030	0.984000	0.44739	0.983000	0.72400	1.963000	0.40452	2.207000	0.71202	0.468000	0.43344	TTT		PASS	0.383	DEFB128-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000101361.2	NM_001037732		71	77	71	77	---	---	---	---
TRIB3	57761	broad.mit.edu	37	20	377002	377002	+	Missense_Mutation	SNP	G	G	T	rs141572809		TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr20:377002G>T	ENST00000217233.3	+	4	1298	c.745G>T	c.(745-747)Gtg>Ttg	p.V249L	TRIB3_ENST00000422053.2_Missense_Mutation_p.V276L	NM_021158.3	NP_066981.2	Q96RU7	TRIB3_HUMAN	tribbles pseudokinase 3	249	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cellular lipid metabolic process (GO:0044255)|cellular response to insulin stimulus (GO:0032869)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of fatty acid biosynthetic process (GO:0045717)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of transcription, DNA-templated (GO:0045892)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of protein binding (GO:0032092)|positive regulation of ubiquitin-protein transferase activity (GO:0051443)|protein phosphorylation (GO:0006468)|regulation of glucose transport (GO:0010827)|regulation of MAP kinase activity (GO:0043405)|response to endoplasmic reticulum stress (GO:0034976)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein kinase binding (GO:0019901)|protein kinase inhibitor activity (GO:0004860)|transcription corepressor activity (GO:0003714)|transferase activity, transferring phosphorus-containing groups (GO:0016772)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase regulator activity (GO:0055106)	p.V249L(1)		breast(1)|central_nervous_system(3)|endometrium(2)|large_intestine(3)|lung(9)|ovary(2)|skin(1)	21		all_epithelial(17;0.165)|Lung NSC(37;0.191)|Breast(17;0.231)		Colorectal(46;0.101)|COAD - Colon adenocarcinoma(99;0.112)		GAGCCTGGGCGTGGCGCTCTT	0.667																																					Melanoma(101;421 2374 19538)	uc002wdm.2																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(2)	2						c.(745-747)GTG>TTG		tribbles 3							42.0	38.0	40.0					20																	377002		2203	4300	6503	SO:0001583	missense	57761				apoptosis|cellular lipid metabolic process|insulin receptor signaling pathway|negative regulation of fat cell differentiation|negative regulation of fatty acid biosynthetic process|negative regulation of protein kinase activity|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of protein binding|positive regulation of ubiquitin-protein ligase activity|regulation of glucose transport|regulation of MAP kinase activity|regulation of transcription, DNA-dependent|response to stress|transcription, DNA-dependent	cytosol|nucleus|plasma membrane	ATP binding|protein kinase activity|protein kinase binding|protein kinase inhibitor activity|transcription corepressor activity|ubiquitin protein ligase binding|ubiquitin-protein ligase regulator activity	g.chr20:377002G>T	AF250311	CCDS12997.1	20p13-p12.2	2013-10-03	2013-10-03	2004-05-04	ENSG00000101255	ENSG00000101255			16228	protein-coding gene	gene with protein product		607898	"""chromosome 20 open reading frame 97"", ""tribbles homolog 3 (Drosophila)"""	C20orf97		12791994, 16715410	Standard	XM_005260773		Approved	dJ1103G7.3, TRB3	uc002wdm.3	Q96RU7	OTTHUMG00000031627	ENST00000217233.3:c.745G>T	20.37:g.377002G>T	ENSP00000217233:p.Val249Leu					TRIB3_uc002wdn.2_Missense_Mutation_p.V276L	p.V249L	NM_021158	NP_066981	Q96RU7	TRIB3_HUMAN		Colorectal(46;0.101)|COAD - Colon adenocarcinoma(99;0.112)	4	1251	+		all_epithelial(17;0.165)|Lung NSC(37;0.191)|Breast(17;0.231)	249			Protein kinase.		Q53GU4|Q53ZW7|Q6I9Y9|Q8TAI6|Q9H5M8|Q9NUD2	Missense_Mutation	SNP	ENST00000217233.3	37	c.745G>T	CCDS12997.1	.	.	.	.	.	.	.	.	.	.	G	32	5.145666	0.94603	.	.	ENSG00000101255	ENST00000217233;ENST00000449710;ENST00000422053	T;T;T	0.66815	1.84;-0.23;1.84	5.27	5.27	0.74061	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.44688	D	0.000432	D	0.87951	0.6307	H	0.97103	3.94	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.91540	0.5249	10	0.87932	D	0	-33.9079	16.4462	0.83935	0.0:0.0:1.0:0.0	.	276;249	B4DMM9;Q96RU7	.;TRIB3_HUMAN	L	249;249;276	ENSP00000217233:V249L;ENSP00000391873:V249L;ENSP00000415416:V276L	ENSP00000217233:V249L	V	+	1	0	TRIB3	325002	1.000000	0.71417	0.933000	0.37362	0.953000	0.61014	9.657000	0.98554	2.735000	0.93741	0.655000	0.94253	GTG		PASS	0.667	TRIB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077441.2	NM_021158		30	24	30	24	---	---	---	---
TGM6	343641	broad.mit.edu	37	20	2375200	2375200	+	Nonsense_Mutation	SNP	C	C	A	rs140181785	byFrequency	TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr20:2375200C>A	ENST00000202625.2	+	2	171	c.110C>A	c.(109-111)tCg>tAg	p.S37*	TGM6_ENST00000477505.1_3'UTR|TGM6_ENST00000381423.1_Nonsense_Mutation_p.S37*	NM_198994.2	NP_945345.2	O95932	TGM3L_HUMAN	transglutaminase 6	37					cell death (GO:0008219)|peptide cross-linking (GO:0018149)	cytoplasm (GO:0005737)	metal ion binding (GO:0046872)|protein-glutamine gamma-glutamyltransferase activity (GO:0003810)	p.S37*(1)		breast(1)|endometrium(6)|kidney(2)|large_intestine(2)|lung(32)|ovary(4)|prostate(1)|skin(4)	52					L-Glutamine(DB00130)	AGGGGCCAGTCGTTCAGCCTC	0.617																																						uc002wfy.1																			1	Substitution - Nonsense(1)		lung(1)	ovary(3)|skin(1)	4						c.(109-111)TCG>TAG		transglutaminase 6	L-Glutamine(DB00130)						46.0	37.0	40.0					20																	2375200		2203	4300	6503	SO:0001587	stop_gained	343641				cell death|peptide cross-linking		acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity	g.chr20:2375200C>A	AF540970	CCDS13025.1, CCDS58761.1	20p13	2010-12-19	2004-07-05	2004-07-07	ENSG00000166948	ENSG00000166948		"""Transglutaminases"""	16255	protein-coding gene	gene with protein product	"""spinocerebellar ataxia 35"""	613900	"""transglutaminase 3-like"""	TGM3L		11390390, 21106500	Standard	NM_198994		Approved	dJ734P14.3, TGY, SCA35	uc002wfy.1	O95932	OTTHUMG00000031692	ENST00000202625.2:c.110C>A	20.37:g.2375200C>A	ENSP00000202625:p.Ser37*					TGM6_uc010gal.1_Nonsense_Mutation_p.S37*	p.S37*	NM_198994	NP_945345	O95932	TGM3L_HUMAN			2	171	+			37					Q5JXU4|Q5JXU5|Q719M2|Q719M3|Q9Y4U8	Nonsense_Mutation	SNP	ENST00000202625.2	37	c.110C>A	CCDS13025.1	.	.	.	.	.	.	.	.	.	.	C	21.2	4.117214	0.77323	.	.	ENSG00000166948	ENST00000202625;ENST00000381423	.	.	.	4.62	-7.09	0.01553	.	1.593000	0.03643	N	0.239836	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.14656	T	0.56	0.3648	9.3745	0.38275	0.0:0.4506:0.3921:0.1573	.	.	.	.	X	37	.	ENSP00000202625:S37X	S	+	2	0	TGM6	2323200	0.000000	0.05858	0.005000	0.12908	0.727000	0.41649	-0.384000	0.07389	-0.926000	0.03770	0.561000	0.74099	TCG		PASS	0.617	TGM6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077581.2	NM_198994		10	8	10	8	---	---	---	---
TGM6	343641	broad.mit.edu	37	20	2398085	2398085	+	Missense_Mutation	SNP	T	T	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr20:2398085T>A	ENST00000202625.2	+	10	1605	c.1544T>A	c.(1543-1545)cTg>cAg	p.L515Q	TGM6_ENST00000381423.1_Missense_Mutation_p.L515Q	NM_198994.2	NP_945345.2	O95932	TGM3L_HUMAN	transglutaminase 6	515					cell death (GO:0008219)|peptide cross-linking (GO:0018149)	cytoplasm (GO:0005737)	metal ion binding (GO:0046872)|protein-glutamine gamma-glutamyltransferase activity (GO:0003810)	p.L515Q(1)		breast(1)|endometrium(6)|kidney(2)|large_intestine(2)|lung(32)|ovary(4)|prostate(1)|skin(4)	52					L-Glutamine(DB00130)	AGACTGGCCCTGTGCTTGGCC	0.642																																						uc002wfy.1																			1	Substitution - Missense(1)		lung(1)	ovary(3)|skin(1)	4						c.(1543-1545)CTG>CAG		transglutaminase 6	L-Glutamine(DB00130)						40.0	36.0	37.0					20																	2398085		2203	4300	6503	SO:0001583	missense	343641				cell death|peptide cross-linking		acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity	g.chr20:2398085T>A	AF540970	CCDS13025.1, CCDS58761.1	20p13	2010-12-19	2004-07-05	2004-07-07	ENSG00000166948	ENSG00000166948		"""Transglutaminases"""	16255	protein-coding gene	gene with protein product	"""spinocerebellar ataxia 35"""	613900	"""transglutaminase 3-like"""	TGM3L		11390390, 21106500	Standard	NM_198994		Approved	dJ734P14.3, TGY, SCA35	uc002wfy.1	O95932	OTTHUMG00000031692	ENST00000202625.2:c.1544T>A	20.37:g.2398085T>A	ENSP00000202625:p.Leu515Gln					TGM6_uc010gal.1_Missense_Mutation_p.L515Q	p.L515Q	NM_198994	NP_945345	O95932	TGM3L_HUMAN			10	1605	+			515					Q5JXU4|Q5JXU5|Q719M2|Q719M3|Q9Y4U8	Missense_Mutation	SNP	ENST00000202625.2	37	c.1544T>A	CCDS13025.1	.	.	.	.	.	.	.	.	.	.	T	19.40	3.819941	0.71028	.	.	ENSG00000166948	ENST00000202625;ENST00000381423	T;T	0.70869	-0.52;-0.52	4.67	4.67	0.58626	Transglutaminase, C-terminal (2);Immunoglobulin-like fold (1);	0.192777	0.36444	N	0.002589	D	0.82719	0.5098	M	0.80183	2.485	0.37359	D	0.91113	D;D	0.89917	1.0;1.0	D;D	0.76575	0.979;0.988	D	0.86762	0.1967	10	0.87932	D	0	-17.9041	10.4347	0.44428	0.0:0.0:0.0:1.0	.	515;515	O95932-2;O95932	.;TGM3L_HUMAN	Q	515	ENSP00000202625:L515Q;ENSP00000370831:L515Q	ENSP00000202625:L515Q	L	+	2	0	TGM6	2346085	0.802000	0.28943	0.998000	0.56505	0.994000	0.84299	4.390000	0.59646	1.974000	0.57490	0.533000	0.62120	CTG		PASS	0.642	TGM6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077581.2	NM_198994		27	14	27	14	---	---	---	---
IDH3B	3420	broad.mit.edu	37	20	2641176	2641176	+	Missense_Mutation	SNP	C	C	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr20:2641176C>A	ENST00000380843.4	-	7	622	c.592G>T	c.(592-594)Gca>Tca	p.A198S	IDH3B_ENST00000488299.1_5'UTR|IDH3B_ENST00000380851.5_Missense_Mutation_p.A198S	NM_006899.3	NP_008830.2	O43837	IDH3B_HUMAN	isocitrate dehydrogenase 3 (NAD+) beta	198					2-oxoglutarate metabolic process (GO:0006103)|cellular metabolic process (GO:0044237)|isocitrate metabolic process (GO:0006102)|NADH metabolic process (GO:0006734)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	electron carrier activity (GO:0009055)|isocitrate dehydrogenase (NAD+) activity (GO:0004449)|magnesium ion binding (GO:0000287)|NAD binding (GO:0051287)	p.A198S(1)		breast(1)|endometrium(3)|kidney(2)|lung(7)|prostate(1)	14						GCGAACTTTGCAATCCGCTGA	0.527																																						uc002wgp.2																			1	Substitution - Missense(1)		lung(1)		0						c.(592-594)GCA>TCA		isocitrate dehydrogenase 3, beta subunit isoform	NADH(DB00157)						146.0	129.0	135.0					20																	2641176		2203	4300	6503	SO:0001583	missense	3420				isocitrate metabolic process|tricarboxylic acid cycle	mitochondrial matrix	electron carrier activity|isocitrate dehydrogenase (NAD+) activity|magnesium ion binding|NAD binding	g.chr20:2641176C>A		CCDS13031.1, CCDS13032.1, CCDS74696.1	20p13	2013-02-14			ENSG00000101365	ENSG00000101365	1.1.1.41		5385	protein-coding gene	gene with protein product		604526				10575215	Standard	NM_006899		Approved	RP46	uc002wgp.4	O43837	OTTHUMG00000031699	ENST00000380843.4:c.592G>T	20.37:g.2641176C>A	ENSP00000370223:p.Ala198Ser					IDH3B_uc002wgq.2_Missense_Mutation_p.A198S|IDH3B_uc002wgr.2_Missense_Mutation_p.A46S|IDH3B_uc010zpz.1_3'UTR	p.A198S	NM_006899	NP_008830	O43837	IDH3B_HUMAN			7	601	-			198					B2RDR1|D3DVX2|D3DVX3|O95106|Q5JXS8|Q9NQ06|Q9NQ07|Q9NUZ0|Q9UEX0|Q9UG99	Missense_Mutation	SNP	ENST00000380843.4	37	c.592G>T	CCDS13032.1	.	.	.	.	.	.	.	.	.	.	C	27.7	4.857838	0.91433	.	.	ENSG00000101365	ENST00000380851;ENST00000380843;ENST00000435594	T;T	0.72167	-0.63;-0.63	5.02	5.02	0.67125	Isopropylmalate dehydrogenase-like domain (2);	0.000000	0.85682	D	0.000000	D	0.86661	0.5986	M	0.89658	3.05	0.80722	D	1	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.85130	0.993;0.994;0.997	D	0.88831	0.3305	10	0.62326	D	0.03	-10.1898	15.8976	0.79346	0.0:1.0:0.0:0.0	.	46;198;198	O43837-3;O43837-2;O43837	.;.;IDH3B_HUMAN	S	198;198;46	ENSP00000370232:A198S;ENSP00000370223:A198S	ENSP00000370223:A198S	A	-	1	0	IDH3B	2589176	1.000000	0.71417	0.998000	0.56505	0.995000	0.86356	7.609000	0.82925	2.618000	0.88619	0.655000	0.94253	GCA		PASS	0.527	IDH3B-011	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000077613.1			51	31	51	31	---	---	---	---
CPXM1	56265	broad.mit.edu	37	20	2774982	2774982	+	Missense_Mutation	SNP	C	C	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr20:2774982C>A	ENST00000380605.2	-	14	2123	c.2059G>T	c.(2059-2061)Gtc>Ttc	p.V687F		NM_001184699.1|NM_019609.4	NP_001171628.1|NP_062555.1	Q96SM3	CPXM1_HUMAN	carboxypeptidase X (M14 family), member 1	687					cell adhesion (GO:0007155)	extracellular space (GO:0005615)	metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)	p.V687F(1)		endometrium(5)|kidney(5)|large_intestine(8)|lung(17)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	43						TCAAAGGTGACCCGACAGTTC	0.627																																						uc002wgu.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(2)	4						c.(2059-2061)GTC>TTC		carboxypeptidase X, member 1 precursor							59.0	58.0	58.0					20																	2774982		2203	4300	6503	SO:0001583	missense	56265				cell adhesion|proteolysis		metallocarboxypeptidase activity|zinc ion binding	g.chr20:2774982C>A	AL035460	CCDS13033.1	20p13	2012-02-10	2006-08-24	2006-08-24	ENSG00000088882	ENSG00000088882			15771	protein-coding gene	gene with protein product	"""carboxypeptidase-like protein X1"""	609555	"""carboxypeptidase X (M14 family)"""	CPXM		14702039	Standard	NM_019609		Approved	CPX-1, CPX1	uc002wgu.3	Q96SM3	OTTHUMG00000031706	ENST00000380605.2:c.2059G>T	20.37:g.2774982C>A	ENSP00000369979:p.Val687Phe					CPXM1_uc010gas.2_Missense_Mutation_p.V613F	p.V687F	NM_019609	NP_062555	Q96SM3	CPXM1_HUMAN			14	2123	-			687					Q6P4G8|Q6UW65|Q9NUB5	Missense_Mutation	SNP	ENST00000380605.2	37	c.2059G>T	CCDS13033.1	.	.	.	.	.	.	.	.	.	.	C	29.1	4.973484	0.92919	.	.	ENSG00000088882	ENST00000380605;ENST00000421947	T	0.55413	0.52	5.13	5.13	0.70059	Peptidase M14, carboxypeptidase A (1);Carboxypeptidase-like, regulatory domain (1);Carboxypeptidase, regulatory domain (1);	0.000000	0.85682	D	0.000000	D	0.82342	0.5016	H	0.97516	4.02	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.88101	0.2819	10	0.87932	D	0	-28.5209	16.4472	0.83937	0.0:1.0:0.0:0.0	.	687	Q96SM3	CPXM1_HUMAN	F	687;383	ENSP00000369979:V687F	ENSP00000369979:V687F	V	-	1	0	CPXM1	2722982	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	5.778000	0.68940	2.825000	0.97269	0.655000	0.94253	GTC		PASS	0.627	CPXM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077643.2	NM_019609		34	30	34	30	---	---	---	---
CPXM1	56265	broad.mit.edu	37	20	2775967	2775967	+	Nonsense_Mutation	SNP	C	C	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr20:2775967C>A	ENST00000380605.2	-	12	1880	c.1816G>T	c.(1816-1818)Gag>Tag	p.E606*		NM_001184699.1|NM_019609.4	NP_001171628.1|NP_062555.1	Q96SM3	CPXM1_HUMAN	carboxypeptidase X (M14 family), member 1	606					cell adhesion (GO:0007155)	extracellular space (GO:0005615)	metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)	p.E606*(1)		endometrium(5)|kidney(5)|large_intestine(8)|lung(17)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	43						TTCTCCCACTCCTGGGGCAAT	0.552																																						uc002wgu.2																			1	Substitution - Nonsense(1)		lung(1)	ovary(2)|skin(2)	4						c.(1816-1818)GAG>TAG		carboxypeptidase X, member 1 precursor							117.0	105.0	109.0					20																	2775967		2203	4300	6503	SO:0001587	stop_gained	56265				cell adhesion|proteolysis		metallocarboxypeptidase activity|zinc ion binding	g.chr20:2775967C>A	AL035460	CCDS13033.1	20p13	2012-02-10	2006-08-24	2006-08-24	ENSG00000088882	ENSG00000088882			15771	protein-coding gene	gene with protein product	"""carboxypeptidase-like protein X1"""	609555	"""carboxypeptidase X (M14 family)"""	CPXM		14702039	Standard	NM_019609		Approved	CPX-1, CPX1	uc002wgu.3	Q96SM3	OTTHUMG00000031706	ENST00000380605.2:c.1816G>T	20.37:g.2775967C>A	ENSP00000369979:p.Glu606*					CPXM1_uc010gas.2_Nonsense_Mutation_p.E532*	p.E606*	NM_019609	NP_062555	Q96SM3	CPXM1_HUMAN			12	1880	-			606					Q6P4G8|Q6UW65|Q9NUB5	Nonsense_Mutation	SNP	ENST00000380605.2	37	c.1816G>T	CCDS13033.1	.	.	.	.	.	.	.	.	.	.	C	38	7.004344	0.97994	.	.	ENSG00000088882	ENST00000380605;ENST00000421947	.	.	.	5.4	5.4	0.78164	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.54805	T	0.06	-31.0805	16.7195	0.85406	0.0:1.0:0.0:0.0	.	.	.	.	X	606;302	.	ENSP00000369979:E606X	E	-	1	0	CPXM1	2723967	1.000000	0.71417	1.000000	0.80357	0.933000	0.57130	7.651000	0.83577	2.814000	0.96858	0.563000	0.77884	GAG		PASS	0.552	CPXM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077643.2	NM_019609		46	30	46	30	---	---	---	---
C20orf194	25943	broad.mit.edu	37	20	3233244	3233244	+	Missense_Mutation	SNP	G	G	C			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr20:3233244G>C	ENST00000252032.9	-	37	3575	c.3508C>G	c.(3508-3510)Cat>Gat	p.H1170D	C20orf194_ENST00000453730.2_3'UTR	NM_001009984.2	NP_001009984.1	Q5TEA3	CT194_HUMAN	chromosome 20 open reading frame 194	1170								p.H1170D(1)		NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(15)|prostate(2)|skin(1)	39						AAGAGGTCATGATACTCCTGC	0.507																																						uc002wii.2																			1	Substitution - Missense(1)		lung(1)		0						c.(3508-3510)CAT>GAT		hypothetical protein LOC25943							214.0	217.0	216.0					20																	3233244		1990	4159	6149	SO:0001583	missense	25943							g.chr20:3233244G>C	AL110249	CCDS42851.1	20p13	2012-10-30			ENSG00000088854	ENSG00000088854			17721	protein-coding gene	gene with protein product		614146					Standard	NM_001009984		Approved	DKFZp434N061	uc002wii.3	Q5TEA3	OTTHUMG00000031742	ENST00000252032.9:c.3508C>G	20.37:g.3233244G>C	ENSP00000252032:p.His1170Asp					C20orf194_uc002wij.3_Missense_Mutation_p.H909D|C20orf194_uc002wik.2_Missense_Mutation_p.H844D	p.H1170D	NM_001009984	NP_001009984	Q5TEA3	CT194_HUMAN			37	3559	-			1170					Q66K86|Q6P2R9|Q9UFX9	Missense_Mutation	SNP	ENST00000252032.9	37	c.3508C>G	CCDS42851.1	.	.	.	.	.	.	.	.	.	.	G	15.20	2.762830	0.49574	.	.	ENSG00000088854	ENST00000252032	T	0.16743	2.32	5.23	5.23	0.72850	.	0.360264	0.29080	N	0.013206	T	0.12817	0.0311	N	0.22421	0.69	0.80722	D	1	B;B	0.30973	0.255;0.302	B;B	0.33042	0.157;0.143	T	0.14227	-1.0480	10	0.27785	T	0.31	.	12.5165	0.56036	0.0768:0.0:0.9232:0.0	.	909;1170	Q0IIP3;Q5TEA3	.;CT194_HUMAN	D	1170	ENSP00000252032:H1170D	ENSP00000252032:H1170D	H	-	1	0	C20orf194	3181244	0.982000	0.34865	0.985000	0.45067	0.991000	0.79684	2.529000	0.45632	2.602000	0.87976	0.650000	0.86243	CAT		PASS	0.507	C20orf194-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077734.1	NM_001009984		76	69	76	69	---	---	---	---
ADAM33	80332	broad.mit.edu	37	20	3660146	3660146	+	Missense_Mutation	SNP	T	T	G			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr20:3660146T>G	ENST00000356518.2	-	2	411	c.170A>C	c.(169-171)gAg>gCg	p.E57A	ADAM33_ENST00000350009.2_Missense_Mutation_p.E57A|ADAM33_ENST00000379861.4_Missense_Mutation_p.E57A	NM_025220.2	NP_079496.1	Q9BZ11	ADA33_HUMAN	ADAM metallopeptidase domain 33	57					proteolysis (GO:0006508)	integral component of membrane (GO:0016021)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.E57A(2)		haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(1)|skin(3)	29						GACCGGCTCCTCCAGGCTGAC	0.612																																						uc002wit.2																			2	Substitution - Missense(2)		lung(2)	large_intestine(2)|ovary(1)|skin(1)	4						c.(169-171)GAG>GCG		ADAM metallopeptidase domain 33 isoform alpha							29.0	28.0	29.0					20																	3660146		2200	4300	6500	SO:0001583	missense	80332				proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding	g.chr20:3660146T>G	AL117415, AB055891	CCDS13058.1, CCDS63219.1	20p13	2010-04-06	2005-08-18		ENSG00000149451	ENSG00000149451		"""ADAM metallopeptidase domain containing"""	15478	protein-coding gene	gene with protein product		607114	"""a disintegrin and metalloproteinase domain 33"", ""chromosome 20 open reading frame 153"""	C20orf153		11814695	Standard	XM_005260843		Approved	DKFZp434K0521, dJ964F7.1	uc002wit.3	Q9BZ11	OTTHUMG00000031758	ENST00000356518.2:c.170A>C	20.37:g.3660146T>G	ENSP00000348912:p.Glu57Ala					ADAM33_uc002wir.1_Missense_Mutation_p.E57A|ADAM33_uc002wiu.2_Missense_Mutation_p.E57A|ADAM33_uc002wiw.1_RNA|ADAM33_uc010gba.1_Missense_Mutation_p.E57A|ADAM33_uc010gbb.1_Missense_Mutation_p.E57A|ADAM33_uc002wix.1_Missense_Mutation_p.E57A|ADAM33_uc010zqg.1_Missense_Mutation_p.E57A|ADAM33_uc010zqh.1_Missense_Mutation_p.E57A|ADAM33_uc002wiy.2_Missense_Mutation_p.E57A	p.E57A	NM_025220	NP_079496	Q9BZ11	ADA33_HUMAN			2	257	-			57			Extracellular (Potential).		A0A1K6|Q5JT75|Q5JT76|Q8N0W6	Missense_Mutation	SNP	ENST00000356518.2	37	c.170A>C	CCDS13058.1	.	.	.	.	.	.	.	.	.	.	T	9.065	0.995368	0.19043	.	.	ENSG00000149451	ENST00000356518;ENST00000379861;ENST00000350009;ENST00000428784;ENST00000360630;ENST00000444535;ENST00000439201;ENST00000358035;ENST00000535013;ENST00000322570;ENST00000339622	T;T;T	0.05447	3.44;3.44;3.44	4.88	4.88	0.63580	Peptidase M12B, propeptide (1);	.	.	.	.	T	0.13286	0.0322	M	0.61703	1.905	0.31125	N	0.708414	D;P;P;P;P;P;P;P	0.54047	0.964;0.918;0.827;0.827;0.856;0.629;0.679;0.679	P;B;B;B;P;B;B;B	0.54924	0.764;0.438;0.359;0.359;0.492;0.173;0.266;0.266	T	0.01280	-1.1397	9	0.09843	T	0.71	.	11.0661	0.47976	0.0:0.0:0.0:1.0	.	57;57;57;57;57;57;57;57	B4DTZ3;B4E1Y6;E9PEB2;F5H888;Q7Z7E1;Q9BZ11-2;Q9BZ11;A2A2L3	.;.;.;.;.;.;ADA33_HUMAN;.	A	57	ENSP00000348912:E57A;ENSP00000369190:E57A;ENSP00000322550:E57A	ENSP00000318839:E57A	E	-	2	0	ADAM33	3608146	0.043000	0.20138	0.989000	0.46669	0.119000	0.20118	1.189000	0.32114	2.172000	0.68678	0.533000	0.62120	GAG		PASS	0.612	ADAM33-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000077763.2	NM_025220		9	12	9	12	---	---	---	---
SPEF1	25876	broad.mit.edu	37	20	3759136	3759136	+	Missense_Mutation	SNP	C	C	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr20:3759136C>A	ENST00000379756.3	-	6	695	c.535G>T	c.(535-537)Gac>Tac	p.D179Y	SPEF1_ENST00000463490.1_5'UTR	NM_015417.4	NP_056232.2	Q9Y4P9	SPEF1_HUMAN	sperm flagellar 1	179						axoneme (GO:0005930)|cytoskeleton (GO:0005856)|motile cilium (GO:0031514)		p.D179Y(1)		cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)	8						AAGCTGGGGTCGCCCTGCAAC	0.677																																						uc002wjj.2																			1	Substitution - Missense(1)		lung(1)		0						c.(535-537)GAC>TAC		calponin-homology and microtubule-associated							24.0	26.0	25.0					20																	3759136		1912	4122	6034	SO:0001583	missense	25876					cilium axoneme|cytoplasm|cytoskeleton		g.chr20:3759136C>A	AL080154	CCDS13063.2	20p13	2013-09-23	2007-08-20	2007-08-20	ENSG00000101222	ENSG00000101222			15874	protein-coding gene	gene with protein product		610674	"""chromosome 20 open reading frame 28"""	C20orf28		15979255	Standard	NM_015417		Approved	DKFZP434I114, SPEF1A	uc002wjj.3	Q9Y4P9	OTTHUMG00000031756	ENST00000379756.3:c.535G>T	20.37:g.3759136C>A	ENSP00000369080:p.Asp179Tyr						p.D179Y	NM_015417	NP_056232	Q9Y4P9	SPEF1_HUMAN			6	703	-			179					A5YM71|D3DVY0|Q5JX78	Missense_Mutation	SNP	ENST00000379756.3	37	c.535G>T	CCDS13063.2	.	.	.	.	.	.	.	.	.	.	C	13.69	2.312275	0.40895	.	.	ENSG00000101222	ENST00000379756	.	.	.	5.29	3.26	0.37387	.	0.638097	0.14336	N	0.326036	T	0.64114	0.2569	L	0.59436	1.845	0.50039	D	0.99984	D	0.57257	0.979	P	0.55391	0.775	T	0.63804	-0.6554	9	0.59425	D	0.04	-27.8871	9.1104	0.36723	0.0:0.8031:0.0:0.1969	.	179	Q9Y4P9	SPEF1_HUMAN	Y	179	.	ENSP00000369080:D179Y	D	-	1	0	SPEF1	3707136	0.479000	0.25925	0.997000	0.53966	0.485000	0.33311	1.009000	0.29886	1.148000	0.42385	0.551000	0.68910	GAC		PASS	0.677	SPEF1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077760.2			17	9	17	9	---	---	---	---
AP5S1	55317	broad.mit.edu	37	20	3802836	3802836	+	Silent	SNP	G	G	C			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr20:3802836G>C	ENST00000246041.2	+	2	291	c.72G>C	c.(70-72)ctG>ctC	p.L24L	AP5S1_ENST00000379567.2_Silent_p.L24L|AP5S1_ENST00000379573.2_Silent_p.L24L			Q9NUS5	AP5S1_HUMAN	adaptor-related protein complex 5, sigma 1 subunit	24					double-strand break repair via homologous recombination (GO:0000724)|endosomal transport (GO:0016197)|protein transport (GO:0015031)	AP-type membrane coat adaptor complex (GO:0030119)|cytoplasm (GO:0005737)|late endosome (GO:0005770)|lysosome (GO:0005764)|nucleus (GO:0005634)		p.L24L(1)									GCCGAGTGCTGTACTCCTGCG	0.602																																						uc002wjs.1																			1	Substitution - coding silent(1)		lung(1)	skin(1)	1						c.(70-72)CTG>CTC		hypothetical protein LOC55317							82.0	70.0	74.0					20																	3802836		2203	4300	6503	SO:0001819	synonymous_variant	55317				double-strand break repair via homologous recombination		protein binding	g.chr20:3802836G>C	AK002030	CCDS13070.1	20p13	2012-02-27	2012-02-27	2012-02-27	ENSG00000125843	ENSG00000125843			15875	protein-coding gene	gene with protein product		614824	"""chromosome 20 open reading frame 29"""	C20orf29		11780052, 22022230	Standard	NM_001204446		Approved	FLJ11168	uc002wjs.2	Q9NUS5	OTTHUMG00000031760	ENST00000246041.2:c.72G>C	20.37:g.3802836G>C						C20orf29_uc002wjt.2_5'UTR|C20orf29_uc002wju.1_Silent_p.L24L	p.L24L	NM_018347	NP_060817	Q9NUS5	CT029_HUMAN			2	250	+			24					B3KSD0|D3DVY7	Silent	SNP	ENST00000246041.2	37	c.72G>C	CCDS13070.1																																																																																				PASS	0.602	AP5S1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077768.2	NM_018347		38	33	38	33	---	---	---	---
PROKR2	128674	broad.mit.edu	37	20	5283322	5283322	+	Silent	SNP	C	C	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr20:5283322C>A	ENST00000217270.3	-	2	518	c.519G>T	c.(517-519)ctG>ctT	p.L173L	PROKR2_ENST00000546004.1_Silent_p.L173L	NM_144773.2	NP_658986.1	Q8NFJ6	PKR2_HUMAN	prokineticin receptor 2	173			L -> R (in HH3; phenotype consistent with Kallmann syndrome; digenic inheritance; the patient also carries the pathogenic mutation Leu-396 in KAL1; dbSNP:rs74315416). {ECO:0000269|PubMed:17054399}.		circadian rhythm (GO:0007623)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	neuropeptide Y receptor activity (GO:0004983)	p.L173L(1)		autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(3)|lung(22)|ovary(5)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	53						CCAAGGCGATCAGGAAGGAGG	0.488										HNSCC(71;0.22)																												uc010zqw.1																			1	Substitution - coding silent(1)		lung(1)	ovary(3)|central_nervous_system(1)|pancreas(1)	5						c.(517-519)CTG>CTT		prokineticin receptor 2							135.0	141.0	139.0					20																	5283322		2203	4300	6503	SO:0001819	synonymous_variant	128674					integral to membrane|plasma membrane	neuropeptide Y receptor activity	g.chr20:5283322C>A	AL121755	CCDS13089.1	20p12.3	2012-08-08	2006-02-15	2006-02-15	ENSG00000101292	ENSG00000101292		"""GPCR / Class A : Prokineticin receptors"""	15836	protein-coding gene	gene with protein product		607123	"""G protein-coupled receptor 73-like 1"", ""Kallmann syndrome 3 (autosomal dominant)"""	GPR73L1, KAL3		11886876, 17054399	Standard	NM_144773		Approved	GPR73b, PKR2, GPRg2, dJ680N4.3	uc010zqw.2	Q8NFJ6	OTTHUMG00000031800	ENST00000217270.3:c.519G>T	20.37:g.5283322C>A		HNSCC(71;0.22)				PROKR2_uc010zqx.1_Silent_p.L173L|PROKR2_uc010zqy.1_Silent_p.L173L	p.L173L	NM_144773	NP_658986	Q8NFJ6	PKR2_HUMAN			2	519	-			173		L -> R (in KAL3).	Helical; Name=4; (Potential).		A5JUU1|Q2M3C0|Q5TDY1|Q9NTT0	Silent	SNP	ENST00000217270.3	37	c.519G>T	CCDS13089.1																																																																																				PASS	0.488	PROKR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077854.1	NM_144773		89	98	89	98	---	---	---	---
BMP2	650	broad.mit.edu	37	20	6750875	6750875	+	Silent	SNP	G	G	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr20:6750875G>T	ENST00000378827.4	+	2	1321	c.102G>T	c.(100-102)gcG>gcT	p.A34A		NM_001200.2	NP_001191.1	P12643	BMP2_HUMAN	bone morphogenetic protein 2	34					activation of MAPK activity (GO:0000187)|atrioventricular valve morphogenesis (GO:0003181)|BMP signaling pathway (GO:0030509)|BMP signaling pathway involved in heart induction (GO:0003130)|bone mineralization (GO:0030282)|bone mineralization involved in bone maturation (GO:0035630)|branching involved in ureteric bud morphogenesis (GO:0001658)|cardiac epithelial to mesenchymal transition (GO:0060317)|cardiac muscle cell differentiation (GO:0055007)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiocyte differentiation (GO:0035051)|cell fate commitment (GO:0045165)|cell-cell signaling (GO:0007267)|cellular response to BMP stimulus (GO:0071773)|cellular response to organic cyclic compound (GO:0071407)|chondrocyte differentiation (GO:0002062)|corticotropin hormone secreting cell differentiation (GO:0060128)|embryo development (GO:0009790)|embryonic heart tube anterior/posterior pattern specification (GO:0035054)|endocardial cushion morphogenesis (GO:0003203)|epithelial to mesenchymal transition (GO:0001837)|extracellular matrix organization (GO:0030198)|growth (GO:0040007)|heart development (GO:0007507)|in utero embryonic development (GO:0001701)|inflammatory response (GO:0006954)|inner ear development (GO:0048839)|mesenchymal cell differentiation (GO:0048762)|mesenchymal cell proliferation involved in ureteric bud development (GO:0072138)|mesenchyme development (GO:0060485)|negative regulation of aldosterone biosynthetic process (GO:0032348)|negative regulation of calcium-independent cell-cell adhesion (GO:0051042)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cardiac muscle cell differentiation (GO:2000726)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cortisol biosynthetic process (GO:2000065)|negative regulation of insulin-like growth factor receptor signaling pathway (GO:0043569)|negative regulation of steroid biosynthetic process (GO:0010894)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of Wnt signaling pathway involved in heart development (GO:0003308)|Notch signaling pathway (GO:0007219)|odontogenesis of dentin-containing tooth (GO:0042475)|organ morphogenesis (GO:0009887)|osteoblast differentiation (GO:0001649)|pathway-restricted SMAD protein phosphorylation (GO:0060389)|pericardium development (GO:0060039)|positive regulation of apoptotic process (GO:0043065)|positive regulation of astrocyte differentiation (GO:0048711)|positive regulation of bone mineralization (GO:0030501)|positive regulation of cartilage development (GO:0061036)|positive regulation of cell migration (GO:0030335)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of gene expression (GO:0010628)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of odontogenesis (GO:0042482)|positive regulation of ossification (GO:0045778)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of osteoblast proliferation (GO:0033690)|positive regulation of p38MAPK cascade (GO:1900745)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of phosphatase activity (GO:0010922)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter involved in cellular response to chemical stimulus (GO:1901522)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of Wnt signaling pathway (GO:0030177)|positive regulation of Wnt signaling pathway by BMP signaling pathway (GO:0060804)|protein destabilization (GO:0031648)|protein phosphorylation (GO:0006468)|proteoglycan metabolic process (GO:0006029)|regulation of odontogenesis of dentin-containing tooth (GO:0042487)|regulation of transcription, DNA-templated (GO:0006355)|response to hypoxia (GO:0001666)|skeletal system development (GO:0001501)|SMAD protein signal transduction (GO:0060395)|telencephalon development (GO:0021537)|telencephalon regionalization (GO:0021978)|thyroid-stimulating hormone-secreting cell differentiation (GO:0060129)	cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	BMP receptor binding (GO:0070700)|phosphatase activator activity (GO:0019211)|protein heterodimerization activity (GO:0046982)|receptor binding (GO:0005102)|retinol dehydrogenase activity (GO:0004745)|SMAD binding (GO:0046332)	p.A34A(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)	13						GGAAGTTCGCGGCGGCGTCGT	0.687																																						uc002wmu.1																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|breast(1)	2						c.(100-102)GCG>GCT		bone morphogenetic protein 2 preproprotein	Simvastatin(DB00641)						14.0	16.0	16.0					20																	6750875		2190	4291	6481	SO:0001819	synonymous_variant	650				BMP signaling pathway involved in heart induction|bone mineralization involved in bone maturation|cardiac cell differentiation|cardiac epithelial to mesenchymal transition|cartilage development|growth|negative regulation of cell cycle|negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|osteoblast differentiation|pathway-restricted SMAD protein phosphorylation|positive regulation of apoptosis|positive regulation of bone mineralization|positive regulation of cartilage development|positive regulation of endothelial cell proliferation|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of phosphatase activity|positive regulation of transcription from RNA polymerase II promoter|SMAD protein signal transduction	extracellular space	activin receptor activity, type II|BMP receptor binding|cytokine activity|growth factor activity|phosphatase activator activity|protein heterodimerization activity|SMAD binding|transforming growth factor beta receptor binding	g.chr20:6750875G>T		CCDS13099.1	20p12	2014-01-30			ENSG00000125845	ENSG00000125845		"""Bone morphogenetic proteins"", ""Endogenous ligands"""	1069	protein-coding gene	gene with protein product		112261		BMP2A		2376592	Standard	NM_001200		Approved		uc002wmu.1	P12643	OTTHUMG00000031833	ENST00000378827.4:c.102G>T	20.37:g.6750875G>T							p.A34A	NM_001200	NP_001191	P12643	BMP2_HUMAN			2	887	+			34						Silent	SNP	ENST00000378827.4	37	c.102G>T	CCDS13099.1																																																																																				PASS	0.687	BMP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077918.3			4	2	4	2	---	---	---	---
CSTL1	128817	broad.mit.edu	37	20	23424651	23424651	+	Silent	SNP	C	C	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr20:23424651C>A	ENST00000246020.2	+	2	320	c.300C>A	c.(298-300)tcC>tcA	p.S100S	CSTL1_ENST00000347397.1_Silent_p.S100S			Q9H114	CST1L_HUMAN	cystatin-like 1	100						extracellular region (GO:0005576)	cysteine-type endopeptidase inhibitor activity (GO:0004869)	p.S100S(1)		breast(2)|endometrium(2)|large_intestine(3)|lung(4)|skin(2)|stomach(1)	14	Colorectal(13;0.0993)|Lung NSC(19;0.235)					GCAATTCTTCCTGCCCCCTGC	0.468																																						uc002wte.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(298-300)TCC>TCA		cystatin-like 1 precursor							124.0	107.0	113.0					20																	23424651		2203	4300	6503	SO:0001819	synonymous_variant	128817					extracellular region	cysteine-type endopeptidase inhibitor activity	g.chr20:23424651C>A	AL096677	CCDS13153.1	20p11.21	2012-08-14			ENSG00000125823	ENSG00000125823			15958	protein-coding gene	gene with protein product						20565543	Standard	NM_138283		Approved	dJ322G13.4, CTES1	uc002wte.3	Q9H114	OTTHUMG00000032068	ENST00000246020.2:c.300C>A	20.37:g.23424651C>A						CSTL1_uc010zsu.1_RNA|CSTL1_uc010zsv.1_RNA	p.S100S	NM_138283	NP_612140	Q9H114	CST1L_HUMAN			3	546	+	Colorectal(13;0.0993)|Lung NSC(19;0.235)		100					Q17RA8|Q64FF7	Silent	SNP	ENST00000246020.2	37	c.300C>A	CCDS13153.1																																																																																				PASS	0.468	CSTL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078328.1			13	22	13	22	---	---	---	---
CST11	140880	broad.mit.edu	37	20	23433221	23433221	+	Splice_Site	SNP	C	C	A	rs374453804		TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr20:23433221C>A	ENST00000377009.3	-	1	261	c.228G>T	c.(226-228)caG>caT	p.Q76H	CST11_ENST00000377007.3_Splice_Site_p.Q76H	NM_130794.1	NP_570612.1	Q9H112	CST11_HUMAN	cystatin 11	76					defense response to bacterium (GO:0042742)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	cysteine-type endopeptidase inhibitor activity (GO:0004869)	p.Q76H(1)		kidney(2)|large_intestine(1)|lung(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	14	Colorectal(13;0.0431)|Lung NSC(19;0.235)					ATACACTCACCTGCCTCTGGA	0.527																																						uc002wtf.1																			1	Substitution - Missense(1)		lung(1)		0						c.(226-228)CAG>CAT		cystatin 11 isoform 1 precursor							119.0	107.0	111.0					20																	23433221		2203	4300	6503	SO:0001630	splice_region_variant	140880				defense response to bacterium	cytoplasm|nucleus	cysteine-type endopeptidase inhibitor activity	g.chr20:23433221C>A	AL096677	CCDS13154.1, CCDS13155.1	20p11.21	2012-08-14			ENSG00000125831	ENSG00000125831			15959	protein-coding gene	gene with protein product		609731		CST8L		20565543	Standard	NM_080830		Approved	dJ322G13.6, CTES2	uc002wtf.1	Q9H112	OTTHUMG00000032060	ENST00000377009.3:c.228+1G>T	20.37:g.23433221C>A						CST11_uc002wtg.1_Missense_Mutation_p.Q76H	p.Q76H	NM_130794	NP_570612	Q9H112	CST11_HUMAN			1	262	-	Colorectal(13;0.0431)|Lung NSC(19;0.235)		76			Secondary area of contact (Potential).		Q0VAF2|Q0VAF3|Q8WXU5|Q8WXU6|Q9H113	Missense_Mutation	SNP	ENST00000377009.3	37	c.228G>T	CCDS13155.1	.	.	.	.	.	.	.	.	.	.	C	13.56	2.274934	0.40194	.	.	ENSG00000125831	ENST00000377009;ENST00000377007	T;T	0.53206	0.63;0.63	3.86	2.92	0.33932	Proteinase inhibitor I25, cystatin (2);	0.806235	0.11448	N	0.563009	T	0.63570	0.2522	M	0.87381	2.88	0.09310	N	1	B;B	0.32425	0.32;0.371	B;P	0.47786	0.303;0.557	T	0.58194	-0.7679	9	.	.	.	-11.8378	7.1669	0.25695	0.0:0.8807:0.0:0.1193	.	76;76	Q9H112-2;Q9H112	.;CST11_HUMAN	H	76	ENSP00000366208:Q76H;ENSP00000366206:Q76H	.	Q	-	3	2	CST11	23381221	0.180000	0.23148	0.248000	0.24265	0.005000	0.04900	0.338000	0.19858	1.206000	0.43276	0.650000	0.86243	CAG		PASS	0.527	CST11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078314.1	NM_130794	Missense_Mutation	48	34	48	34	---	---	---	---
NANP	140838	broad.mit.edu	37	20	25596915	25596915	+	Silent	SNP	C	C	A	rs377735495		TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr20:25596915C>A	ENST00000304788.3	-	2	619	c.393G>T	c.(391-393)acG>acT	p.T131T		NM_152667.2	NP_689880.1	Q8TBE9	NANP_HUMAN	N-acetylneuraminic acid phosphatase	131	Substrate binding.				carbohydrate metabolic process (GO:0005975)|dephosphorylation (GO:0016311)|N-acetylglucosamine biosynthetic process (GO:0006045)|N-acetylneuraminate biosynthetic process (GO:0046380)		N-acylneuraminate-9-phosphatase activity (GO:0050124)	p.T131T(1)		endometrium(2)|lung(2)|prostate(1)	5						TGTCCCCATTCGTTAATAGAA	0.473																																						uc002wuy.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(391-393)ACG>ACT		N-acetylneuraminic acid phosphatase							87.0	86.0	86.0					20																	25596915		2203	4300	6503	SO:0001819	synonymous_variant	140838				N-acetylneuraminate biosynthetic process		N-acylneuraminate-9-phosphatase activity|phosphoglycolate phosphatase activity	g.chr20:25596915C>A	AL031673	CCDS13173.1	20p11.1	2006-10-24	2006-01-24	2006-01-24	ENSG00000170191	ENSG00000170191			16140	protein-coding gene	gene with protein product		610763	"""chromosome 20 open reading frame 147"", ""haloacid dehalogenase-like hydrolase domain containing 4"""	C20orf147, HDHD4		16237198	Standard	NM_152667		Approved	dJ694B14.3, MGC26833	uc002wuy.3	Q8TBE9	OTTHUMG00000032132	ENST00000304788.3:c.393G>T	20.37:g.25596915C>A							p.T131T	NM_152667	NP_689880	Q8TBE9	NANP_HUMAN			2	457	-			131			Substrate binding.		B3KP12|Q5JYN8|Q8TE97|Q9Y3N0	Silent	SNP	ENST00000304788.3	37	c.393G>T	CCDS13173.1																																																																																				PASS	0.473	NANP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078457.2	NM_152667		4	106	4	106	---	---	---	---
REM1	28954	broad.mit.edu	37	20	30070204	30070204	+	Silent	SNP	C	C	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr20:30070204C>A	ENST00000201979.2	+	4	831	c.538C>A	c.(538-540)Cgg>Agg	p.R180R		NM_014012.4	NP_054731.2	O75628	REM1_HUMAN	RAS (RAD and GEM)-like GTP-binding 1	180					GTP catabolic process (GO:0006184)|small GTPase mediated signal transduction (GO:0007264)	membrane (GO:0016020)	GTP binding (GO:0005525)	p.R180W(1)|p.R180R(1)		kidney(3)|large_intestine(3)|lung(14)|pancreas(2)|upper_aerodigestive_tract(1)	23	all_cancers(5;0.000119)|Lung NSC(7;1.32e-05)|all_lung(7;2.14e-05)|all_hematologic(12;0.158)|Ovarian(7;0.198)		Colorectal(19;0.00254)|COAD - Colon adenocarcinoma(19;0.0347)			CATCCAGCTGCGGCGCACACA	0.607																																						uc002wwa.2																			2	Substitution - Missense(1)|Substitution - coding silent(1)		large_intestine(1)|lung(1)	lung(2)|pancreas(2)	4						c.(538-540)CGG>AGG		RAS-like GTP-binding protein REM							92.0	81.0	85.0					20																	30070204		2203	4300	6503	SO:0001819	synonymous_variant	28954				small GTPase mediated signal transduction	membrane	calmodulin binding|GTP binding|GTPase activity	g.chr20:30070204C>A	AF152863	CCDS13181.1	20q11.21	2014-05-09	2004-04-14	2004-04-16	ENSG00000088320	ENSG00000088320			15922	protein-coding gene	gene with protein product	"""GTPase GES"""	610388	"""RAS (RAD and GEM)-like GTP-binding"""	REM		10831614, 14623965	Standard	NM_014012		Approved	GES	uc002wwa.3	O75628	OTTHUMG00000032168	ENST00000201979.2:c.538C>A	20.37:g.30070204C>A							p.R180R	NM_014012	NP_054731	O75628	REM1_HUMAN	Colorectal(19;0.00254)|COAD - Colon adenocarcinoma(19;0.0347)		4	822	+	all_cancers(5;0.000119)|Lung NSC(7;1.32e-05)|all_lung(7;2.14e-05)|all_hematologic(12;0.158)|Ovarian(7;0.198)		180					E1P5L1|Q5TZR7|Q5TZR8|Q9NP57	Silent	SNP	ENST00000201979.2	37	c.538C>A	CCDS13181.1																																																																																				PASS	0.607	REM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078508.2	NM_014012		63	42	63	42	---	---	---	---
BPIFA1	51297	broad.mit.edu	37	20	31828181	31828181	+	Missense_Mutation	SNP	C	C	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr20:31828181C>A	ENST00000354297.4	+	5	642	c.571C>A	c.(571-573)Ctg>Atg	p.L191M	BPIFA1_ENST00000375422.2_Missense_Mutation_p.L191M|BPIFA1_ENST00000375413.4_Missense_Mutation_p.L191M	NM_130852.2	NP_570913.1	Q9NP55	BPIA1_HUMAN	BPI fold containing family A, member 1	191					antibacterial humoral response (GO:0019731)|innate immune response (GO:0045087)|multicellular organismal water homeostasis (GO:0050891)|negative regulation of single-species biofilm formation in or on host organism (GO:1900229)|regulation of liquid surface tension (GO:0050828)|regulation of sodium ion transmembrane transport (GO:1902305)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	lipid binding (GO:0008289)	p.L191M(1)									GCAAATTTCTCTGCTTGATGG	0.517																																						uc002wyv.2																			1	Substitution - Missense(1)		lung(1)		0						c.(571-573)CTG>ATG		palate, lung and nasal epithelium associated							157.0	152.0	154.0					20																	31828181		2203	4300	6503	SO:0001583	missense	51297				innate immune response	extracellular region	lipid binding	g.chr20:31828181C>A	AB024937	CCDS13217.1	20q11.21	2011-08-04	2011-07-29	2011-07-29	ENSG00000198183	ENSG00000198183		"""BPI fold containing"""	15749	protein-coding gene	gene with protein product		607412	"""palate, lung and nasal epithelium carcinoma associated"", ""palate, lung and nasal epithelium associated"""	PLUNC		11018263, 11251963, 21787333	Standard	NM_130852		Approved	LUNX, bA49G10.5, SPLUNC1	uc002wyv.3	Q9NP55	OTTHUMG00000032243	ENST00000354297.4:c.571C>A	20.37:g.31828181C>A	ENSP00000346251:p.Leu191Met					PLUNC_uc002wyt.3_Missense_Mutation_p.L191M|PLUNC_uc002wyu.3_Missense_Mutation_p.L191M	p.L191M	NM_130852	NP_570913	Q9NP55	PLUNC_HUMAN			5	641	+			191					A8K9R3|E1P5M9|Q9NZT0	Missense_Mutation	SNP	ENST00000354297.4	37	c.571C>A	CCDS13217.1	.	.	.	.	.	.	.	.	.	.	C	11.33	1.606215	0.28623	.	.	ENSG00000198183	ENST00000375422;ENST00000354297;ENST00000375413;ENST00000544328	T;T;T	0.08634	3.07;3.07;3.07	5.03	-0.216	0.13153	.	0.280602	0.25558	N	0.029853	T	0.21468	0.0517	M	0.81802	2.56	0.39192	D	0.96298	D	0.76494	0.999	D	0.73708	0.981	T	0.03043	-1.1079	10	0.62326	D	0.03	-3.5275	4.0302	0.09705	0.0:0.4372:0.1745:0.3883	.	191	Q9NP55	BPIA1_HUMAN	M	191;191;191;177	ENSP00000364571:L191M;ENSP00000346251:L191M;ENSP00000364562:L191M	ENSP00000346251:L191M	L	+	1	2	BPIFA1	31291842	0.000000	0.05858	0.206000	0.23566	0.232000	0.25224	-0.826000	0.04429	0.095000	0.17434	0.655000	0.94253	CTG		PASS	0.517	BPIFA1-002	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078667.2	NM_130852		115	128	115	128	---	---	---	---
MYH7B	57644	broad.mit.edu	37	20	33585348	33585348	+	Missense_Mutation	SNP	C	C	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr20:33585348C>A	ENST00000262873.7	+	30	3870	c.3778C>A	c.(3778-3780)Cag>Aag	p.Q1260K		NM_020884.3	NP_065935.2	A7E2Y1	MYH7B_HUMAN	myosin, heavy chain 7B, cardiac muscle, beta	1218						membrane (GO:0016020)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|motor activity (GO:0003774)	p.Q1260K(1)		NS(2)|breast(5)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(19)|ovary(5)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	54			BRCA - Breast invasive adenocarcinoma(18;0.00691)			GGACAGCCTGCAGCGGGTGCG	0.706																																						uc002xbi.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|breast(1)	2						c.(3778-3780)CAG>AAG		myosin, heavy polypeptide 7B, cardiac muscle,							39.0	42.0	41.0					20																	33585348		2200	4299	6499	SO:0001583	missense	57644					membrane|myosin filament	actin binding|ATP binding|motor activity	g.chr20:33585348C>A	AB040945	CCDS42869.1	20q11	2011-09-27	2006-09-29		ENSG00000078814	ENSG00000078814		"""Myosins / Myosin superfamily : Class II"""	15906	protein-coding gene	gene with protein product		609928	"""myosin, heavy polypeptide 7B, cardiac muscle, beta"""			11919279, 15014174	Standard	XM_006723839		Approved	KIAA1512, dJ756N5.1, MYH14, MHC14	uc002xbi.2	A7E2Y1	OTTHUMG00000032320	ENST00000262873.7:c.3778C>A	20.37:g.33585348C>A	ENSP00000262873:p.Gln1260Lys						p.Q1260K	NM_020884	NP_065935	A7E2Y1	MYH7B_HUMAN	BRCA - Breast invasive adenocarcinoma(18;0.00691)		30	3870	+			1218			Potential.		Q5JVW7|Q6NT44|Q6NT57|Q6WG75|Q96I57|Q9NWE2|Q9P216	Missense_Mutation	SNP	ENST00000262873.7	37	c.3778C>A	CCDS42869.1	.	.	.	.	.	.	.	.	.	.	C	34	5.331375	0.95733	.	.	ENSG00000078814	ENST00000262873	T	0.78924	-1.22	4.73	4.73	0.59995	Myosin tail (1);	0.000000	0.35936	N	0.002898	D	0.87438	0.6177	M	0.72894	2.215	0.58432	D	0.999997	D	0.69078	0.997	D	0.76071	0.987	D	0.88989	0.3413	10	0.87932	D	0	.	17.9076	0.88923	0.0:1.0:0.0:0.0	.	1218	A7E2Y1	MYH7B_HUMAN	K	1260	ENSP00000262873:Q1260K	ENSP00000262873:Q1260K	Q	+	1	0	MYH7B	33049009	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.647000	0.83462	2.456000	0.83038	0.563000	0.77884	CAG		PASS	0.706	MYH7B-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000078833.2	NM_020884		7	3	7	3	---	---	---	---
RBL1	5933	broad.mit.edu	37	20	35635932	35635932	+	Missense_Mutation	SNP	C	C	G			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr20:35635932C>G	ENST00000373664.3	-	20	2819	c.2753G>C	c.(2752-2754)tGt>tCt	p.C918S	RBL1_ENST00000344359.3_Missense_Mutation_p.C918S	NM_002895.2	NP_002886.2	P28749	RBL1_HUMAN	retinoblastoma-like 1	918	Domain B.|Pocket; binds T and E1A.				chromatin modification (GO:0016568)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell cycle (GO:0051726)|regulation of lipid kinase activity (GO:0043550)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	transcription factor binding (GO:0008134)	p.C918S(1)		NS(1)|breast(1)|endometrium(7)|large_intestine(6)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	42		Myeloproliferative disorder(115;0.00878)				TCCACTGGAACAGTCAGGTGT	0.343																																						uc002xgi.2																			1	Substitution - Missense(1)		lung(1)	lung(5)|skin(3)|ovary(2)	10						c.(2752-2754)TGT>TCT		retinoblastoma-like protein 1 isoform a							91.0	88.0	89.0					20																	35635932		2202	4300	6502	SO:0001583	missense	5933				cell cycle|chromatin modification|interspecies interaction between organisms|regulation of cell cycle|regulation of lipid kinase activity|transcription, DNA-dependent		transcription factor binding	g.chr20:35635932C>G	L14812	CCDS13289.1, CCDS13290.1	20q11.23	2014-03-11	2014-03-11		ENSG00000080839	ENSG00000080839			9893	protein-coding gene	gene with protein product		116957				1833063	Standard	NM_183404		Approved	p107, cp107, PRB1	uc002xgi.3	P28749	OTTHUMG00000032406	ENST00000373664.3:c.2753G>C	20.37:g.35635932C>G	ENSP00000362768:p.Cys918Ser					RBL1_uc010zvt.1_RNA|RBL1_uc002xgj.1_Missense_Mutation_p.C918S	p.C918S	NM_002895	NP_002886	P28749	RBL1_HUMAN			20	2832	-		Myeloproliferative disorder(115;0.00878)	918			Domain B.|Pocket; binds T and E1A.		A8K2W5|Q4VXA0|Q8N5K6|Q9H1L5|Q9H1M1	Missense_Mutation	SNP	ENST00000373664.3	37	c.2753G>C	CCDS13289.1	.	.	.	.	.	.	.	.	.	.	C	0.967	-0.701482	0.03255	.	.	ENSG00000080839	ENST00000373664;ENST00000344359	D;D	0.92099	-2.73;-2.97	5.3	3.24	0.37175	Retinoblastoma-associated protein, B-box (1);Cyclin-like (1);	0.450348	0.24759	N	0.035824	T	0.81356	0.4805	N	0.12182	0.205	0.22811	N	0.998707	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.66674	-0.5864	10	0.21014	T	0.42	-6.6734	8.6685	0.34137	0.0:0.6232:0.2932:0.0835	.	918;918	P28749-2;P28749	.;RBL1_HUMAN	S	918	ENSP00000362768:C918S;ENSP00000343646:C918S	ENSP00000343646:C918S	C	-	2	0	RBL1	35069346	1.000000	0.71417	1.000000	0.80357	0.893000	0.52053	0.777000	0.26718	1.445000	0.47624	0.591000	0.81541	TGT		PASS	0.343	RBL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079067.2	NM_002895		36	44	36	44	---	---	---	---
IFT52	51098	broad.mit.edu	37	20	42242569	42242569	+	Missense_Mutation	SNP	G	G	C			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr20:42242569G>C	ENST00000373030.3	+	7	695	c.565G>C	c.(565-567)Gtc>Ctc	p.V189L	IFT52_ENST00000373039.4_Missense_Mutation_p.V189L	NM_016004.2	NP_057088.2	Q9Y366	IFT52_HUMAN	intraflagellar transport 52	189					cilium morphogenesis (GO:0060271)|dorsal/ventral pattern formation (GO:0009953)|embryonic digit morphogenesis (GO:0042733)|heart looping (GO:0001947)|intraciliary transport (GO:0042073)|negative regulation of epithelial cell proliferation (GO:0050680)|neural tube formation (GO:0001841)|regulation of protein processing (GO:0070613)|smoothened signaling pathway (GO:0007224)	centriole (GO:0005814)|ciliary base (GO:0097546)|ciliary tip (GO:0097542)|cilium (GO:0005929)|dendrite terminus (GO:0044292)|intraciliary transport particle B (GO:0030992)|motile cilium (GO:0031514)|photoreceptor connecting cilium (GO:0032391)	protein C-terminus binding (GO:0008022)	p.V189L(1)		endometrium(5)|kidney(1)|large_intestine(2)|lung(10)|ovary(2)|urinary_tract(1)	21		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.0031)			TACAGGTTCTGTCTGCTTCCC	0.388																																						uc002xkw.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(565-567)GTC>CTC		intraflagellar transport 52 homolog							97.0	90.0	93.0					20																	42242569		2203	4300	6503	SO:0001583	missense	51098					intraflagellar transport particle B|microtubule-based flagellum	protein C-terminus binding	g.chr20:42242569G>C	AF151811	CCDS33470.1	20q12-q13.1	2014-07-03	2014-07-03	2005-11-02	ENSG00000101052	ENSG00000101052		"""Intraflagellar transport homologs"""	15901	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 9"", ""intraflagellar transport 52 homolog (Chlamydomonas)"""	C20orf9		10810093	Standard	NM_016004		Approved	CGI-53, NGD5, dJ1028D15.1, NGD2	uc002xkw.3	Q9Y366	OTTHUMG00000032513	ENST00000373030.3:c.565G>C	20.37:g.42242569G>C	ENSP00000362121:p.Val189Leu					IFT52_uc010zwi.1_RNA|IFT52_uc002xky.2_Missense_Mutation_p.V189L|IFT52_uc002xkx.2_RNA|IFT52_uc010ggn.2_Missense_Mutation_p.V165L|IFT52_uc002xkz.2_Missense_Mutation_p.V189L	p.V189L	NM_016004	NP_057088	Q9Y366	IFT52_HUMAN	COAD - Colon adenocarcinoma(18;0.0031)		7	687	+		Myeloproliferative disorder(115;0.00452)	189					B3KMA1|E1P5W9|Q5H8Z0|Q9H1G3|Q9H1G4|Q9H1H2	Missense_Mutation	SNP	ENST00000373030.3	37	c.565G>C	CCDS33470.1	.	.	.	.	.	.	.	.	.	.	G	20.6	4.025224	0.75390	.	.	ENSG00000101052	ENST00000373030;ENST00000373039	.	.	.	5.75	5.75	0.90469	.	0.059007	0.64402	D	0.000003	T	0.56920	0.2018	M	0.68728	2.09	0.80722	D	1	P	0.44986	0.847	B	0.37601	0.254	T	0.59053	-0.7526	9	0.34782	T	0.22	-17.3002	19.0975	0.93258	0.0:0.0:1.0:0.0	.	189	Q9Y366	IFT52_HUMAN	L	189	.	ENSP00000362121:V189L	V	+	1	0	IFT52	41675983	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.765000	0.85310	2.885000	0.99019	0.655000	0.94253	GTC		PASS	0.388	IFT52-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079317.1	NM_016004		43	40	43	40	---	---	---	---
GDAP1L1	78997	broad.mit.edu	37	20	42885970	42885970	+	Missense_Mutation	SNP	C	C	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr20:42885970C>A	ENST00000342560.5	+	2	446	c.358C>A	c.(358-360)Cgc>Agc	p.R120S	GDAP1L1_ENST00000537864.1_Intron|GDAP1L1_ENST00000372952.3_Missense_Mutation_p.R120S	NM_001256737.1|NM_024034.4	NP_001243666.1|NP_076939.3	Q96MZ0	GD1L1_HUMAN	ganglioside induced differentiation associated protein 1-like 1	120	GST N-terminal.							p.R120S(1)		endometrium(1)|large_intestine(5)|lung(10)|pancreas(1)|prostate(1)	18		Myeloproliferative disorder(115;0.0122)	COAD - Colon adenocarcinoma(18;0.00189)			CTATGTGGAGCGCACCTTCAC	0.607																																						uc002xlq.2																			1	Substitution - Missense(1)		lung(1)	large_intestine(1)	1						c.(358-360)CGC>AGC		ganglioside-induced differentiation-associated							103.0	70.0	81.0					20																	42885970		2203	4300	6503	SO:0001583	missense	78997							g.chr20:42885970C>A		CCDS13328.1, CCDS74725.1, CCDS74726.1, CCDS74727.1	20q12	2012-02-09	2012-02-09		ENSG00000124194	ENSG00000124194			4213	protein-coding gene	gene with protein product							Standard	NM_024034		Approved		uc010zwl.3	Q96MZ0	OTTHUMG00000032530	ENST00000342560.5:c.358C>A	20.37:g.42885970C>A	ENSP00000341782:p.Arg120Ser					GDAP1L1_uc002xlp.1_Missense_Mutation_p.R120S|GDAP1L1_uc010zwl.1_Missense_Mutation_p.R120S|GDAP1L1_uc010zwm.1_Missense_Mutation_p.R120S|GDAP1L1_uc010zwn.1_Intron	p.R120S	NM_024034	NP_076939	Q96MZ0	GD1L1_HUMAN	COAD - Colon adenocarcinoma(18;0.00189)		2	425	+		Myeloproliferative disorder(115;0.0122)	120			GST N-terminal.		B7Z621|Q5TE60|Q68CW7|Q9BQJ7|Q9BQV4|Q9BWJ4|Q9H3Y2|Q9H4G5	Missense_Mutation	SNP	ENST00000342560.5	37	c.358C>A	CCDS13328.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	15.17|15.17	2.755285|2.755285	0.49362|0.49362	.|.	.|.	ENSG00000124194|ENSG00000124194	ENST00000445952|ENST00000342560;ENST00000372947;ENST00000372946;ENST00000545149;ENST00000438466;ENST00000372952	.|T;T;T	.|0.62941	.|-0.01;-0.01;0.98	5.49|5.49	5.49|5.49	0.81192|0.81192	.|Glutathione S-transferase, N-terminal (1);Thioredoxin-like fold (2);	.|0.230318	.|0.44688	.|D	.|0.000427	T|T	0.47967|0.47967	0.1474|0.1474	N|N	0.21097|0.21097	0.63|0.63	0.80722|0.80722	D|D	1|1	.|B;B;B;P	.|0.35124	.|0.1;0.22;0.11;0.485	.|B;B;B;B	.|0.36504	.|0.075;0.156;0.069;0.226	T|T	0.41910|0.41910	-0.9482|-0.9482	5|10	.|0.27785	.|T	.|0.31	.|.	12.0251|12.0251	0.53365|0.53365	0.2787:0.7213:0.0:0.0|0.2787:0.7213:0.0:0.0	.|.	.|120;120;120;66	.|B7Z1I3;B7Z621;Q96MZ0;Q5JY50	.|.;.;GD1L1_HUMAN;.	E|S	66|120;118;120;89;120;120	.|ENSP00000341782:R120S;ENSP00000392881:R120S;ENSP00000362043:R120S	.|ENSP00000341782:R120S	A|R	+|+	2|1	0|0	GDAP1L1|GDAP1L1	42319384|42319384	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	4.966000|4.966000	0.63715|0.63715	2.860000|2.860000	0.98153|0.98153	0.655000|0.655000	0.94253|0.94253	GCG|CGC		PASS	0.607	GDAP1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079356.1	NM_024034		24	22	24	22	---	---	---	---
ZSWIM3	140831	broad.mit.edu	37	20	44506325	44506325	+	Silent	SNP	G	G	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr20:44506325G>T	ENST00000255152.2	+	2	1337	c.1128G>T	c.(1126-1128)ctG>ctT	p.L376L	ZSWIM3_ENST00000454862.2_Silent_p.L370L	NM_080752.3	NP_542790.2	Q96MP5	ZSWM3_HUMAN	zinc finger, SWIM-type containing 3	376							zinc ion binding (GO:0008270)	p.L376L(1)		endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	35		Myeloproliferative disorder(115;0.0122)				GTGAACTGCTGTGGTACATGC	0.532																																						uc002xqd.2																			1	Substitution - coding silent(1)		lung(1)	ovary(2)	2						c.(1126-1128)CTG>CTT		zinc finger, SWIM domain containing 3							88.0	74.0	79.0					20																	44506325		2203	4300	6503	SO:0001819	synonymous_variant	140831						zinc ion binding	g.chr20:44506325G>T	AL008726	CCDS13381.1	20q13.12	2014-06-13	2003-12-17	2003-12-19	ENSG00000132801	ENSG00000132801		"""Zinc fingers, SWIM-type"""	16157	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 174"""		"""chromosome 20 open reading frame 164"""	C20orf164			Standard	NM_080752		Approved	dJ337O18.7, PPP1R174	uc002xqd.3	Q96MP5	OTTHUMG00000032627	ENST00000255152.2:c.1128G>T	20.37:g.44506325G>T						ZSWIM3_uc010zxg.1_Silent_p.L370L	p.L376L	NM_080752	NP_542790	Q96MP5	ZSWM3_HUMAN			2	1331	+		Myeloproliferative disorder(115;0.0122)	376					Q9BR13	Silent	SNP	ENST00000255152.2	37	c.1128G>T	CCDS13381.1																																																																																				PASS	0.532	ZSWIM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079540.1	NM_080752		41	29	41	29	---	---	---	---
MMP9	4318	broad.mit.edu	37	20	44645004	44645004	+	Missense_Mutation	SNP	C	C	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr20:44645004C>A	ENST00000372330.3	+	13	2140	c.2121C>A	c.(2119-2121)gaC>gaA	p.D707E	RP11-465L10.10_ENST00000535913.1_RNA	NM_004994.2	NP_004985.2	P14780	MMP9_HUMAN	matrix metallopeptidase 9 (gelatinase B, 92kDa gelatinase, 92kDa type IV collagenase)	707					collagen catabolic process (GO:0030574)|embryo implantation (GO:0007566)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|leukocyte migration (GO:0050900)|macrophage differentiation (GO:0030225)|negative regulation of cation channel activity (GO:2001258)|ossification (GO:0001503)|positive regulation of apoptotic process (GO:0043065)|positive regulation of keratinocyte migration (GO:0051549)|positive regulation of receptor binding (GO:1900122)|proteolysis (GO:0006508)|skeletal system development (GO:0001501)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	collagen binding (GO:0005518)|identical protein binding (GO:0042802)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.D707E(1)		breast(2)|endometrium(4)|large_intestine(14)|liver(2)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(3)	46		Myeloproliferative disorder(115;0.0122)			Captopril(DB01197)|Glucosamine(DB01296)|Marimastat(DB00786)|Minocycline(DB01017)	GCCCTGAGGACTAGGGCTCCC	0.577																																						uc002xqz.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|pancreas(1)	2						c.(2119-2121)GAC>GAA		matrix metalloproteinase 9 preproprotein	Glucosamine(DB01296)|Marimastat(DB00786)|Minocycline(DB01017)|Simvastatin(DB00641)						114.0	84.0	94.0					20																	44645004		2203	4300	6503	SO:0001583	missense	4318				collagen catabolic process|macrophage differentiation|positive regulation of keratinocyte migration|proteolysis	extracellular space|proteinaceous extracellular matrix	collagen binding|metalloendopeptidase activity|zinc ion binding	g.chr20:44645004C>A		CCDS13390.1	20q12-q13	2008-01-07	2005-08-08		ENSG00000100985	ENSG00000100985	3.4.24.35		7176	protein-coding gene	gene with protein product		120361	"""matrix metalloproteinase 9 (gelatinase B, 92kD gelatinase, 92kD type IV collagenase)"", ""matrix metalloproteinase 9 (gelatinase B, 92kDa gelatinase, 92kDa type IV collagenase)"""	CLG4B		2158484	Standard	NM_004994		Approved		uc002xqz.3	P14780	OTTHUMG00000033044	ENST00000372330.3:c.2121C>A	20.37:g.44645004C>A	ENSP00000361405:p.Asp707Glu						p.D707E	NM_004994	NP_004985	P14780	MMP9_HUMAN			13	2140	+		Myeloproliferative disorder(115;0.0122)	707					B2R7V9|Q3LR70|Q8N725|Q9H4Z1|Q9UCJ9|Q9UCL1|Q9UDK2	Missense_Mutation	SNP	ENST00000372330.3	37	c.2121C>A	CCDS13390.1	.	.	.	.	.	.	.	.	.	.	C	7.819	0.717441	0.15372	.	.	ENSG00000100985	ENST00000372330;ENST00000545925	T	0.18960	2.18	5.12	-6.8	0.01709	.	1.070980	0.07185	N	0.854765	T	0.14313	0.0346	L	0.53249	1.67	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.34625	-0.9821	10	0.35671	T	0.21	.	2.1946	0.03907	0.2097:0.1558:0.4138:0.2208	.	707	P14780	MMP9_HUMAN	E	707;277	ENSP00000361405:D707E	ENSP00000361405:D707E	D	+	3	2	MMP9	44078411	0.000000	0.05858	0.011000	0.14972	0.338000	0.28826	-0.881000	0.04179	-1.250000	0.02497	-0.182000	0.12963	GAC		PASS	0.577	MMP9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080337.1			20	27	20	27	---	---	---	---
SLC12A5	57468	broad.mit.edu	37	20	44671797	44671797	+	Missense_Mutation	SNP	C	C	A	rs200514600		TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr20:44671797C>A	ENST00000454036.2	+	9	1190	c.1141C>A	c.(1141-1143)Ctc>Atc	p.L381I	SLC12A5_ENST00000243964.3_Missense_Mutation_p.L358I	NM_001134771.1	NP_001128243.1	Q9H2X9	S12A5_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 5	381					cellular ion homeostasis (GO:0006873)|chloride transmembrane transport (GO:1902476)|ion transport (GO:0006811)|learning (GO:0007612)|multicellular organism growth (GO:0035264)|potassium ion transport (GO:0006813)|response to drug (GO:0042493)|synaptic transmission (GO:0007268)|thermosensory behavior (GO:0040040)|transmembrane transport (GO:0055085)|transport (GO:0006810)	dendritic shaft (GO:0043198)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	potassium:chloride symporter activity (GO:0015379)|protein kinase binding (GO:0019901)	p.L358I(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(1)|lung(38)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)	80		Myeloproliferative disorder(115;0.0122)			Bumetanide(DB00887)|Potassium Chloride(DB00761)	CACAGAGAACCTCTGGAGCTC	0.607																																						uc010zxl.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)|large_intestine(1)|central_nervous_system(1)|skin(1)	5						c.(1141-1143)CTC>ATC		solute carrier family 12 (potassium-chloride	Bumetanide(DB00887)|Potassium Chloride(DB00761)						134.0	127.0	129.0					20																	44671797		2203	4300	6503	SO:0001583	missense	57468				potassium ion transport|sodium ion transport	integral to membrane	potassium:chloride symporter activity	g.chr20:44671797C>A	AB033002	CCDS13391.1, CCDS46610.1	20q13.12	2013-05-22	2010-04-20		ENSG00000124140	ENSG00000124140		"""Solute carriers"""	13818	protein-coding gene	gene with protein product		606726					Standard	NM_020708		Approved	KIAA1176, KCC2	uc010zxl.1	Q9H2X9	OTTHUMG00000032638	ENST00000454036.2:c.1141C>A	20.37:g.44671797C>A	ENSP00000387694:p.Leu381Ile					SLC12A5_uc010zxm.1_Intron|SLC12A5_uc002xrb.2_Missense_Mutation_p.L358I	p.L381I	NM_001134771	NP_001128243	Q9H2X9	S12A5_HUMAN			9	1217	+		Myeloproliferative disorder(115;0.0122)	381			Cytoplasmic (Potential).		A2RTX2|Q5VZ41|Q9H4Z0|Q9ULP4	Missense_Mutation	SNP	ENST00000454036.2	37	c.1141C>A	CCDS46610.1	.	.	.	.	.	.	.	.	.	.	C	14.26	2.482035	0.44147	.	.	ENSG00000124140	ENST00000454036;ENST00000243964	T;T	0.63255	-0.03;-0.03	4.47	4.47	0.54385	.	0.000000	0.64402	D	0.000002	T	0.54695	0.1874	L	0.42487	1.325	0.80722	D	1	B;B	0.33964	0.162;0.434	B;B	0.35727	0.081;0.209	T	0.51092	-0.8749	10	0.15499	T	0.54	.	16.6495	0.85185	0.0:1.0:0.0:0.0	.	381;358	Q9H2X9;Q9H2X9-2	S12A5_HUMAN;.	I	381;358	ENSP00000387694:L381I;ENSP00000243964:L358I	ENSP00000243964:L358I	L	+	1	0	SLC12A5	44105204	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	2.343000	0.44001	2.470000	0.83445	0.462000	0.41574	CTC		PASS	0.607	SLC12A5-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000471538.1			92	76	92	76	---	---	---	---
SLC12A5	57468	broad.mit.edu	37	20	44685005	44685005	+	Splice_Site	SNP	T	T	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr20:44685005T>A	ENST00000454036.2	+	23	3030	c.2981T>A	c.(2980-2982)gTg>gAg	p.V994E	SLC12A5_ENST00000243964.3_Splice_Site_p.V971E	NM_001134771.1	NP_001128243.1	Q9H2X9	S12A5_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 5	994					cellular ion homeostasis (GO:0006873)|chloride transmembrane transport (GO:1902476)|ion transport (GO:0006811)|learning (GO:0007612)|multicellular organism growth (GO:0035264)|potassium ion transport (GO:0006813)|response to drug (GO:0042493)|synaptic transmission (GO:0007268)|thermosensory behavior (GO:0040040)|transmembrane transport (GO:0055085)|transport (GO:0006810)	dendritic shaft (GO:0043198)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	potassium:chloride symporter activity (GO:0015379)|protein kinase binding (GO:0019901)	p.V971E(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(1)|lung(38)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)	80		Myeloproliferative disorder(115;0.0122)			Bumetanide(DB00887)|Potassium Chloride(DB00761)	ATCCCTCAGGTGCAGCTGATC	0.632																																						uc010zxl.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)|large_intestine(1)|central_nervous_system(1)|skin(1)	5						c.(2980-2982)GTG>GAG		solute carrier family 12 (potassium-chloride	Bumetanide(DB00887)|Potassium Chloride(DB00761)						44.0	43.0	43.0					20																	44685005		2203	4300	6503	SO:0001630	splice_region_variant	57468				potassium ion transport|sodium ion transport	integral to membrane	potassium:chloride symporter activity	g.chr20:44685005T>A	AB033002	CCDS13391.1, CCDS46610.1	20q13.12	2013-05-22	2010-04-20		ENSG00000124140	ENSG00000124140		"""Solute carriers"""	13818	protein-coding gene	gene with protein product		606726					Standard	NM_020708		Approved	KIAA1176, KCC2	uc010zxl.1	Q9H2X9	OTTHUMG00000032638	ENST00000454036.2:c.2980-1T>A	20.37:g.44685005T>A						SLC12A5_uc002xrb.2_Missense_Mutation_p.V971E	p.V994E	NM_001134771	NP_001128243	Q9H2X9	S12A5_HUMAN			23	3057	+		Myeloproliferative disorder(115;0.0122)	994			Cytoplasmic (Potential).		A2RTX2|Q5VZ41|Q9H4Z0|Q9ULP4	Missense_Mutation	SNP	ENST00000454036.2	37	c.2981T>A	CCDS46610.1	.	.	.	.	.	.	.	.	.	.	T	9.970	1.225162	0.22457	.	.	ENSG00000124140	ENST00000454036;ENST00000243964	T;T	0.39997	1.05;1.05	4.93	4.93	0.64822	.	0.333863	0.28760	N	0.014230	T	0.40979	0.1139	M	0.72894	2.215	0.80722	D	1	B;B	0.10296	0.0;0.003	B;B	0.15484	0.013;0.011	T	0.32079	-0.9920	10	0.10902	T	0.67	.	13.9116	0.63871	0.0:0.0:0.0:1.0	.	994;971	Q9H2X9;Q9H2X9-2	S12A5_HUMAN;.	E	994;971	ENSP00000387694:V994E;ENSP00000243964:V971E	ENSP00000243964:V971E	V	+	2	0	SLC12A5	44118412	1.000000	0.71417	1.000000	0.80357	0.786000	0.44442	1.886000	0.39688	2.061000	0.61500	0.459000	0.35465	GTG		PASS	0.632	SLC12A5-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000471538.1		Missense_Mutation	19	11	19	11	---	---	---	---
EYA2	2139	broad.mit.edu	37	20	45702822	45702822	+	Missense_Mutation	SNP	C	C	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr20:45702822C>A	ENST00000327619.5	+	7	883	c.509C>A	c.(508-510)cCc>cAc	p.P170H	EYA2_ENST00000357410.3_Missense_Mutation_p.P170H|EYA2_ENST00000317304.6_Missense_Mutation_p.P170H	NM_005244.4	NP_005235.3	O00167	EYA2_HUMAN	EYA transcriptional coactivator and phosphatase 2	170					DNA repair (GO:0006281)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|histone dephosphorylation (GO:0016576)|mesodermal cell fate specification (GO:0007501)|mitochondrial outer membrane permeabilization (GO:0097345)|peptidyl-tyrosine dephosphorylation (GO:0035335)|regulation of transcription, DNA-templated (GO:0006355)|striated muscle tissue development (GO:0014706)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	magnesium ion binding (GO:0000287)|protein tyrosine phosphatase activity (GO:0004725)	p.P170H(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	32		Myeloproliferative disorder(115;0.0241)				CCCGGCTTCCCCCAGAGCCAG	0.597																																					Pancreas(120;56 1725 18501 25218 43520)	uc002xsm.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(508-510)CCC>CAC		eyes absent 2 isoform a							110.0	93.0	99.0					20																	45702822		2203	4300	6503	SO:0001583	missense	2139				DNA repair|histone dephosphorylation|mesodermal cell fate specification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	magnesium ion binding|protein binding|protein tyrosine phosphatase activity	g.chr20:45702822C>A		CCDS13403.1, CCDS54471.1	20q13.1	2014-06-19	2014-06-19		ENSG00000064655	ENSG00000064655		"""Protein tyrosine phosphatases / Asp-based PTPs"""	3520	protein-coding gene	gene with protein product		601654	"""eyes absent (Drosophila) homolog 2"", ""eyes absent homolog 2 (Drosophila)"""			9020840	Standard	NM_005244		Approved	EAB1	uc002xsm.3	O00167	OTTHUMG00000033041	ENST00000327619.5:c.509C>A	20.37:g.45702822C>A	ENSP00000333640:p.Pro170His					EYA2_uc010ghp.2_Missense_Mutation_p.P170H|EYA2_uc002xsn.2_Missense_Mutation_p.P175H|EYA2_uc002xso.2_Missense_Mutation_p.P170H|EYA2_uc002xsp.2_Missense_Mutation_p.P170H|EYA2_uc002xsq.2_Missense_Mutation_p.P170H	p.P170H	NM_005244	NP_005235	O00167	EYA2_HUMAN			7	883	+		Myeloproliferative disorder(115;0.0241)	170					Q5JSW8|Q86U84|Q96CV6|Q96H97|Q99503|Q99812|Q9BWF6|Q9H4S3|Q9H4S9|Q9NPZ4|Q9UIX7	Missense_Mutation	SNP	ENST00000327619.5	37	c.509C>A	CCDS13403.1	.	.	.	.	.	.	.	.	.	.	C	15.18	2.756881	0.49362	.	.	ENSG00000064655	ENST00000327619;ENST00000357410;ENST00000484200;ENST00000317304	T;T;T	0.80653	-1.4;-1.4;-1.4	5.48	5.48	0.80851	.	0.395926	0.27673	N	0.018337	D	0.83362	0.5238	L	0.40543	1.245	0.28413	N	0.918088	D;P;P;P	0.67145	0.996;0.874;0.898;0.898	P;P;P;P	0.59288	0.855;0.518;0.599;0.599	T	0.79478	-0.1787	10	0.87932	D	0	-13.3027	14.9176	0.70810	0.0:0.8574:0.1426:0.0	.	170;170;170;170	O00167-3;E7ETN2;A8KAG7;O00167	.;.;.;EYA2_HUMAN	H	170	ENSP00000333640:P170H;ENSP00000349986:P170H;ENSP00000321590:P170H	ENSP00000321590:P170H	P	+	2	0	EYA2	45136229	1.000000	0.71417	0.959000	0.39883	0.998000	0.95712	4.825000	0.62708	2.576000	0.86940	0.655000	0.94253	CCC		PASS	0.597	EYA2-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080326.2	NM_005244		69	48	69	48	---	---	---	---
SULF2	55959	broad.mit.edu	37	20	46294641	46294641	+	Missense_Mutation	SNP	A	A	G			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr20:46294641A>G	ENST00000359930.4	-	13	2713	c.1862T>C	c.(1861-1863)cTg>cCg	p.L621P	SULF2_ENST00000484875.1_Missense_Mutation_p.L621P|SULF2_ENST00000467815.1_Missense_Mutation_p.L621P|SULF2_ENST00000361612.4_Missense_Mutation_p.L621P	NM_018837.3	NP_061325.1	Q8IWU5	SULF2_HUMAN	sulfatase 2	621					bone development (GO:0060348)|cartilage development (GO:0051216)|chondrocyte development (GO:0002063)|embryonic skeletal system development (GO:0048706)|esophagus smooth muscle contraction (GO:0014846)|glial cell-derived neurotrophic factor receptor signaling pathway (GO:0035860)|glomerular basement membrane development (GO:0032836)|glomerular filtration (GO:0003094)|heparan sulfate proteoglycan metabolic process (GO:0030201)|innervation (GO:0060384)|kidney development (GO:0001822)|negative regulation of fibroblast growth factor receptor signaling pathway (GO:0040037)|positive regulation of Wnt signaling pathway (GO:0030177)|positive regulation vascular endothelial growth factor production (GO:0010575)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	arylsulfatase activity (GO:0004065)|calcium ion binding (GO:0005509)|N-acetylglucosamine-6-sulfatase activity (GO:0008449)	p.L621P(1)		breast(2)|endometrium(4)|kidney(1)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	54						CCAGGCCTGCAGGGACTTGTA	0.617																																						uc002xto.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|breast(2)|pancreas(1)|skin(1)	6						c.(1861-1863)CTG>CCG		sulfatase 2 isoform a precursor							209.0	177.0	187.0					20																	46294641		2203	4300	6503	SO:0001583	missense	55959				bone development|heparan sulfate proteoglycan metabolic process|kidney development|negative regulation of fibroblast growth factor receptor signaling pathway	cell surface|endoplasmic reticulum|extracellular space|Golgi stack	arylsulfatase activity|calcium ion binding	g.chr20:46294641A>G	AY101176	CCDS13408.1, CCDS13409.1, CCDS13409.2	20q13.12-q13.13	2008-05-14			ENSG00000196562	ENSG00000196562			20392	protein-coding gene	gene with protein product		610013				12368295	Standard	NM_018837		Approved	KIAA1247, HSULF-2, SULF-2	uc002xto.3	Q8IWU5	OTTHUMG00000032675	ENST00000359930.4:c.1862T>C	20.37:g.46294641A>G	ENSP00000353007:p.Leu621Pro					SULF2_uc002xtr.2_Missense_Mutation_p.L621P|SULF2_uc002xtq.2_Missense_Mutation_p.L621P|SULF2_uc010zyd.1_5'Flank	p.L621P	NM_018837	NP_061325	Q8IWU5	SULF2_HUMAN			13	2192	-			621					E1P5U6|Q5JYE1|Q6UX86|Q96SG2|Q9H1H0|Q9UJR3|Q9ULH3	Missense_Mutation	SNP	ENST00000359930.4	37	c.1862T>C	CCDS13408.1	.	.	.	.	.	.	.	.	.	.	A	11.52	1.663677	0.29515	.	.	ENSG00000196562	ENST00000359930;ENST00000484875;ENST00000361612;ENST00000371978;ENST00000467815	D;D;D;D	0.99032	-5.34;-5.34;-5.34;-5.35	5.24	5.24	0.73138	Extracellular sulfatase, C-terminal (1);Alkaline-phosphatase-like, core domain (1);	0.000000	0.85682	D	0.000000	D	0.98871	0.9618	L	0.54323	1.7	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.99564	1.0969	10	0.33141	T	0.24	-10.1905	15.1399	0.72601	1.0:0.0:0.0:0.0	.	621;621	Q8IWU5-2;Q8IWU5	.;SULF2_HUMAN	P	621;621;621;40;621	ENSP00000353007:L621P;ENSP00000418290:L621P;ENSP00000354662:L621P;ENSP00000418442:L621P	ENSP00000353007:L621P	L	-	2	0	SULF2	45728048	1.000000	0.71417	1.000000	0.80357	0.910000	0.53928	3.983000	0.56916	1.979000	0.57680	0.378000	0.23410	CTG		PASS	0.617	SULF2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000079606.1	NM_018837		47	50	47	50	---	---	---	---
PREX1	57580	broad.mit.edu	37	20	47444245	47444245	+	Silent	SNP	G	G	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr20:47444245G>A	ENST00000371941.3	-	1	175	c.153C>T	c.(151-153)ctC>ctT	p.L51L	PREX1_ENST00000396220.1_Silent_p.L51L	NM_020820.3	NP_065871	Q8TCU6	PREX1_HUMAN	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 1	51	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				actin filament polymerization (GO:0030041)|G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)|neutrophil activation (GO:0042119)|neutrophil chemotaxis (GO:0030593)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|regulation of actin filament polymerization (GO:0030833)|regulation of dendrite development (GO:0050773)|superoxide metabolic process (GO:0006801)|T cell differentiation (GO:0030217)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|growth cone (GO:0030426)|intracellular membrane-bounded organelle (GO:0043231)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	enzyme binding (GO:0019899)|phospholipid binding (GO:0005543)|Rho GTPase activator activity (GO:0005100)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.L51L(2)		breast(3)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(27)|lung(53)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	110			BRCA - Breast invasive adenocarcinoma(12;0.0135)|Colorectal(8;0.198)			TGAGGACGCAGAGGCGGAGGC	0.741																																						uc002xtw.1																			2	Substitution - coding silent(2)		lung(2)	lung(3)|ovary(2)|pancreas(1)	6						c.(151-153)CTC>CTT		phosphatidylinositol-3,4,							10.0	12.0	11.0					20																	47444245		2168	4280	6448	SO:0001819	synonymous_variant	57580				actin filament polymerization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|neutrophil activation|small GTPase mediated signal transduction|superoxide metabolic process	cytosol|plasma membrane	enzyme binding|phospholipid binding|Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity	g.chr20:47444245G>A	AB037836	CCDS13410.1	20q13.13	2013-01-10	2008-09-15		ENSG00000124126	ENSG00000124126		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	32594	protein-coding gene	gene with protein product		606905				11955434, 15545267, 16301320	Standard	NM_020820		Approved	KIAA1415, P-REX1	uc002xtw.1	Q8TCU6	OTTHUMG00000032685	ENST00000371941.3:c.153C>T	20.37:g.47444245G>A							p.L51L	NM_020820	NP_065871	Q8TCU6	PREX1_HUMAN	BRCA - Breast invasive adenocarcinoma(12;0.0135)|Colorectal(8;0.198)		1	176	-			51			DH.		E1P5X9|Q5JS95|Q5JS96|Q69YL2|Q7Z2L9|Q9BQH0|Q9BX55|Q9H4Q6|Q9P2D2|Q9UGQ4	Silent	SNP	ENST00000371941.3	37	c.153C>T	CCDS13410.1																																																																																				PASS	0.741	PREX1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000079623.1	NM_020820		14	6	14	6	---	---	---	---
FAM65C	140876	broad.mit.edu	37	20	49221208	49221208	+	Missense_Mutation	SNP	G	G	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr20:49221208G>T	ENST00000327979.2	-	12	1459	c.1048C>A	c.(1048-1050)Ccc>Acc	p.P350T	FAM65C_ENST00000045083.2_Missense_Mutation_p.P350T|FAM65C_ENST00000535356.1_Missense_Mutation_p.P354T			Q96MK2	FA65C_HUMAN	family with sequence similarity 65, member C	350								p.P350T(1)		endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|liver(1)|lung(12)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						CGGAAGCTGGGGGTGCTCGGG	0.632																																						uc002xvm.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(1048-1050)CCC>ACC		hypothetical protein LOC140876							42.0	43.0	43.0					20																	49221208		2203	4300	6503	SO:0001583	missense	140876							g.chr20:49221208G>T	AL133230	CCDS13431.2	20q13.13	2011-11-24	2008-06-13	2008-06-13	ENSG00000042062	ENSG00000042062			16168	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 175"", ""chromosome 20 open reading frame 176"""	C20orf175, C20orf176			Standard	XM_005260294		Approved	dJ530I15.2, dJ530I15.3	uc002xvm.3	Q96MK2	OTTHUMG00000032724	ENST00000327979.2:c.1048C>A	20.37:g.49221208G>T	ENSP00000332663:p.Pro350Thr					FAM65C_uc010zyt.1_Missense_Mutation_p.P354T|FAM65C_uc010zyu.1_RNA|FAM65C_uc002xvn.1_Missense_Mutation_p.P350T	p.P350T	NM_080829	NP_543019	Q96MK2	FA65C_HUMAN			12	1366	-			350					Q5QPB6|Q9NQQ2	Missense_Mutation	SNP	ENST00000327979.2	37	c.1048C>A	CCDS13431.2	.	.	.	.	.	.	.	.	.	.	G	22.9	4.343772	0.82022	.	.	ENSG00000042062	ENST00000327979;ENST00000045083;ENST00000535356	T;T;T	0.02236	4.38;4.38;4.38	4.33	4.33	0.51752	.	0.000000	0.85682	D	0.000000	T	0.12263	0.0298	M	0.76574	2.34	0.58432	D	0.999998	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.00915	-1.1516	10	0.62326	D	0.03	-28.4421	15.961	0.79930	0.0:0.0:1.0:0.0	.	354;350	F5H0X2;Q96MK2	.;FA65C_HUMAN	T	350;350;354	ENSP00000332663:P350T;ENSP00000045083:P350T;ENSP00000439802:P354T	ENSP00000045083:P350T	P	-	1	0	FAM65C	48654615	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	8.356000	0.90085	2.125000	0.65367	0.561000	0.74099	CCC		PASS	0.632	FAM65C-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257962.1			30	28	30	28	---	---	---	---
SALL4	57167	broad.mit.edu	37	20	50401059	50401059	+	Missense_Mutation	SNP	C	C	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr20:50401059C>A	ENST00000217086.4	-	4	3018	c.2907G>T	c.(2905-2907)tgG>tgT	p.W969C	SALL4_ENST00000371539.3_Missense_Mutation_p.W192C|SALL4_ENST00000395997.3_Missense_Mutation_p.W532C	NM_020436.3	NP_065169.1	Q9UJQ4	SALL4_HUMAN	spalt-like transcription factor 4	969					embryonic limb morphogenesis (GO:0030326)|inner cell mass cell proliferation (GO:0001833)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural tube closure (GO:0001843)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|stem cell maintenance (GO:0019827)|transcription, DNA-templated (GO:0006351)|ventricular septum development (GO:0003281)	cytoplasm (GO:0005737)|heterochromatin (GO:0000792)|nucleus (GO:0005634)|protein complex (GO:0043234)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.W969C(1)		endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(27)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						TGTACTGGTTCCACACAACAG	0.532																																						uc002xwh.3																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(2905-2907)TGG>TGT		sal-like 4							119.0	103.0	108.0					20																	50401059		2203	4300	6503	SO:0001583	missense	57167				transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr20:50401059C>A	AK001666	CCDS13438.1	20q13.2	2014-09-17	2013-10-17		ENSG00000101115	ENSG00000101115		"""Zinc fingers, C2H2-type"""	15924	protein-coding gene	gene with protein product		607343	"""sal (Drosophila)-like 4"", ""sal-like 4 (Drosophila)"""				Standard	NM_020436		Approved	dJ1112F19.1, ZNF797	uc002xwh.4	Q9UJQ4	OTTHUMG00000032752	ENST00000217086.4:c.2907G>T	20.37:g.50401059C>A	ENSP00000217086:p.Trp969Cys					SALL4_uc010gii.2_Missense_Mutation_p.W532C|SALL4_uc002xwi.3_Missense_Mutation_p.W192C	p.W969C	NM_020436	NP_065169	Q9UJQ4	SALL4_HUMAN			4	3008	-			969					A2A2D8|Q540H3|Q6Y8G6	Missense_Mutation	SNP	ENST00000217086.4	37	c.2907G>T	CCDS13438.1	.	.	.	.	.	.	.	.	.	.	C	17.05	3.291004	0.59976	.	.	ENSG00000101115	ENST00000217086;ENST00000395997;ENST00000371539	T;T;T	0.63255	-0.03;-0.03;-0.03	4.8	3.85	0.44370	.	0.000000	0.40144	N	0.001180	T	0.79209	0.4407	M	0.84082	2.675	0.80722	D	1	D;B;D	0.89917	1.0;0.229;1.0	D;B;D	0.87578	0.998;0.081;0.996	T	0.81265	-0.1011	10	0.52906	T	0.07	-23.5086	13.2828	0.60226	0.0:0.9221:0.0:0.0779	.	532;192;969	A2A2D8;Q6Y8G5;Q9UJQ4	.;.;SALL4_HUMAN	C	969;532;192	ENSP00000217086:W969C;ENSP00000379319:W532C;ENSP00000360594:W192C	ENSP00000217086:W969C	W	-	3	0	SALL4	49834466	1.000000	0.71417	1.000000	0.80357	0.927000	0.56198	7.776000	0.85560	1.151000	0.42436	0.561000	0.74099	TGG		PASS	0.532	SALL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079738.3			63	69	63	69	---	---	---	---
ZFP64	55734	broad.mit.edu	37	20	50769287	50769287	+	Missense_Mutation	SNP	C	C	G			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr20:50769287C>G	ENST00000216923.4	-	6	1793	c.1444G>C	c.(1444-1446)Gtg>Ctg	p.V482L	ZFP64_ENST00000371515.4_Missense_Mutation_p.V480L|ZFP64_ENST00000477786.1_Intron|ZFP64_ENST00000346617.4_Missense_Mutation_p.V428L|ZFP64_ENST00000371518.2_Intron|ZFP64_ENST00000361387.2_Intron	NM_018197.2|NM_199426.1	NP_060667.2|NP_955458.1	Q9NPA5	ZF64A_HUMAN	ZFP64 zinc finger protein	482					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.V482L(2)		breast(2)|endometrium(5)|large_intestine(8)|lung(11)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	33						TGGAGGGGCACCTGGAGGTGT	0.607																																						uc002xwl.2																			2	Substitution - Missense(2)		lung(2)	upper_aerodigestive_tract(1)|ovary(1)	2						c.(1444-1446)GTG>CTG		zinc finger protein 64 isoform a							42.0	39.0	40.0					20																	50769287		2201	4297	6498	SO:0001583	missense	55734				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr20:50769287C>G	AK001596	CCDS13439.1, CCDS13440.1, CCDS13441.1, CCDS13442.1	20q13.11-q13.13	2013-01-08	2012-11-27		ENSG00000020256	ENSG00000020256		"""Zinc fingers, C2H2-type"""	15940	protein-coding gene	gene with protein product			"""zinc finger protein 338"", ""zinc finger protein 64 homolog (mouse)"", ""zinc finger protein 64"""	ZNF338		9034307	Standard	NM_199427		Approved	FLJ10734, dJ831D17.1, FLJ12628, dJ548G19.1	uc002xwl.3	Q9NPA5	OTTHUMG00000032756	ENST00000216923.4:c.1444G>C	20.37:g.50769287C>G	ENSP00000216923:p.Val482Leu					ZFP64_uc002xwk.2_Intron|ZFP64_uc002xwm.2_Missense_Mutation_p.V480L|ZFP64_uc002xwn.2_Missense_Mutation_p.V428L	p.V482L	NM_018197	NP_060667	Q9NPA5	ZF64A_HUMAN			6	1793	-			482					Q9NTS7|Q9NVH4	Missense_Mutation	SNP	ENST00000216923.4	37	c.1444G>C	CCDS13440.1	.	.	.	.	.	.	.	.	.	.	C	12.57	1.978351	0.34942	.	.	ENSG00000020256	ENST00000216923;ENST00000346617;ENST00000371515;ENST00000546083;ENST00000371516	T;T;T	0.07567	3.18;3.24;3.18	5.44	5.44	0.79542	.	0.114916	0.38381	N	0.001719	T	0.08891	0.0220	L	0.29908	0.895	0.80722	D	1	B;B;B	0.16603	0.018;0.01;0.01	B;B;B	0.14578	0.011;0.005;0.005	T	0.27839	-1.0062	10	0.27082	T	0.32	-21.1549	19.2628	0.93974	0.0:1.0:0.0:0.0	.	428;480;482	Q9NPA5-2;Q5JWM1;Q9NPA5	.;.;ZF64A_HUMAN	L	482;428;480;324;635	ENSP00000216923:V482L;ENSP00000344615:V428L;ENSP00000360570:V480L	ENSP00000216923:V482L	V	-	1	0	ZFP64	50202694	1.000000	0.71417	0.982000	0.44146	0.201000	0.24016	3.458000	0.53014	2.550000	0.86006	0.555000	0.69702	GTG		PASS	0.607	ZFP64-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000079744.1	NM_018197		17	37	17	37	---	---	---	---
TSHZ2	128553	broad.mit.edu	37	20	51872902	51872902	+	Missense_Mutation	SNP	C	C	G			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr20:51872902C>G	ENST00000371497.5	+	2	3792	c.2905C>G	c.(2905-2907)Caa>Gaa	p.Q969E	RP4-678D15.1_ENST00000606932.1_RNA|TSHZ2_ENST00000329613.6_Missense_Mutation_p.Q966E|TSHZ2_ENST00000603338.2_Missense_Mutation_p.Q966E	NM_001193421.1|NM_173485.5	NP_001180350.1|NP_775756.3	Q9NRE2	TSH2_HUMAN	teashirt zinc finger homeobox 2	969					multicellular organismal development (GO:0007275)|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.Q969E(1)		NS(2)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(16)|lung(38)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	84			STAD - Stomach adenocarcinoma(23;0.1)			CAAGGTGGAGCAAGAGATCTC	0.502																																						uc002xwo.2																			1	Substitution - Missense(1)		lung(1)	ovary(5)|haematopoietic_and_lymphoid_tissue(1)	6						c.(2905-2907)CAA>GAA		teashirt zinc finger homeobox 2							78.0	74.0	76.0					20																	51872902		2203	4300	6503	SO:0001583	missense	128553				multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr20:51872902C>G	AF230201	CCDS33490.1, CCDS54474.1	20q13.2	2013-11-20	2007-07-16	2006-03-14	ENSG00000182463	ENSG00000182463		"""Teashirt zinc fingers"", ""Homeoboxes / ZF class"", ""Zinc fingers, C2H2-type"""	13010	protein-coding gene	gene with protein product		614118	"""chromosome 20 open reading frame 17"", ""zinc finger protein 218"", ""teashirt family zinc finger 2"""	C20orf17, ZNF218		9671742	Standard	NM_173485		Approved	ZABC2, OVC10-2, TSH2	uc021wex.1	Q9NRE2	OTTHUMG00000033058	ENST00000371497.5:c.2905C>G	20.37:g.51872902C>G	ENSP00000360552:p.Gln969Glu						p.Q969E	NM_173485	NP_775756	Q9NRE2	TSH2_HUMAN	STAD - Stomach adenocarcinoma(23;0.1)		2	3861	+			969					B7Z7W1|J3KNQ0|Q4VXM4|Q6N003|Q8N260	Missense_Mutation	SNP	ENST00000371497.5	37	c.2905C>G	CCDS33490.1	.	.	.	.	.	.	.	.	.	.	C	12.20	1.865272	0.32977	.	.	ENSG00000182463	ENST00000371497;ENST00000329613;ENST00000450262	T;T	0.14516	2.51;2.5	5.7	5.7	0.88788	.	0.105674	0.64402	D	0.000004	T	0.12817	0.0311	L	0.33093	0.98	0.37094	D	0.899594	B	0.10296	0.003	B	0.12837	0.008	T	0.06679	-1.0813	10	0.41790	T	0.15	-2.1924	14.6446	0.68751	0.1455:0.8545:0.0:0.0	.	969	Q9NRE2	TSH2_HUMAN	E	969;966;495	ENSP00000360552:Q969E;ENSP00000333114:Q966E	ENSP00000333114:Q966E	Q	+	1	0	TSHZ2	51306309	1.000000	0.71417	0.996000	0.52242	0.995000	0.86356	3.600000	0.54052	2.685000	0.91497	0.643000	0.83706	CAA		PASS	0.502	TSHZ2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080398.6	NM_173485		26	38	26	38	---	---	---	---
RAE1	8480	broad.mit.edu	37	20	55943782	55943782	+	Missense_Mutation	SNP	G	G	C			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr20:55943782G>C	ENST00000395841.2	+	8	976	c.556G>C	c.(556-558)Gca>Cca	p.A186P	RAE1_ENST00000395840.2_Missense_Mutation_p.A186P|RAE1_ENST00000371242.2_Missense_Mutation_p.A186P|RAE1_ENST00000527947.1_Missense_Mutation_p.A186P	NM_003610.3	NP_003601.1	P78406	RAE1L_HUMAN	ribonucleic acid export 1	186					carbohydrate metabolic process (GO:0005975)|cellular response to organic cyclic compound (GO:0071407)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA export from nucleus (GO:0006406)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nuclear envelope (GO:0005635)|nuclear outer membrane (GO:0005640)|nuclear pore (GO:0005643)|nucleolus (GO:0005730)|nucleus (GO:0005634)	microtubule binding (GO:0008017)|RNA binding (GO:0003723)	p.A186P(1)		breast(1)|endometrium(5)|large_intestine(4)|lung(6)|prostate(3)|skin(2)	21	Lung NSC(12;0.00263)|all_lung(29;0.00828)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(4;3.7e-14)|Epithelial(14;1.07e-09)|all cancers(14;1.11e-08)			GGCTGTGGTGGCAACTGCAGA	0.433																																						uc002xyg.2																			1	Substitution - Missense(1)		lung(1)		0						c.(556-558)GCA>CCA		RAE1 (RNA export 1, S.pombe) homolog							77.0	69.0	71.0					20																	55943782		2203	4300	6503	SO:0001583	missense	8480				carbohydrate metabolic process|glucose transport|mRNA export from nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytoplasm|cytoskeleton|nuclear outer membrane|nuclear pore	microtubule binding|RNA binding	g.chr20:55943782G>C	U84720	CCDS13458.1	20q13.31	2013-08-28	2013-08-28		ENSG00000101146	ENSG00000101146		"""WD repeat domain containing"""	9828	protein-coding gene	gene with protein product		603343	"""RAE1 (RNA export 1, S.pombe) homolog"", ""RAE1 RNA export 1 homolog (S. pombe)"""			9370289, 9256445	Standard	XM_005260582		Approved	Mnrp41	uc002xyi.3	P78406	OTTHUMG00000032819	ENST00000395841.2:c.556G>C	20.37:g.55943782G>C	ENSP00000379182:p.Ala186Pro					RAE1_uc010gis.1_Missense_Mutation_p.A139P|RAE1_uc010git.1_Missense_Mutation_p.A186P|RAE1_uc002xyh.2_Missense_Mutation_p.A186P|RAE1_uc002xyi.2_Missense_Mutation_p.A186P	p.A186P	NM_003610	NP_003601	P78406	RAE1L_HUMAN	BRCA - Breast invasive adenocarcinoma(4;3.7e-14)|Epithelial(14;1.07e-09)|all cancers(14;1.11e-08)		8	897	+	Lung NSC(12;0.00263)|all_lung(29;0.00828)|Melanoma(10;0.242)		186			WD 3.		A8K882|O15306|Q3SYL7|Q5TCH8|Q6V708|Q9H100|Q9NQM6	Missense_Mutation	SNP	ENST00000395841.2	37	c.556G>C	CCDS13458.1	.	.	.	.	.	.	.	.	.	.	G	35	5.437835	0.96168	.	.	ENSG00000101146	ENST00000395841;ENST00000371242;ENST00000527947;ENST00000395840	T;T;T;T	0.72835	-0.69;-0.69;-0.69;-0.69	6.02	5.07	0.68467	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.80681	0.4669	M	0.73962	2.25	0.80722	D	1	D;D;D	0.63046	0.992;0.987;0.987	P;P;P	0.56648	0.795;0.803;0.803	D	0.83716	0.0190	10	0.87932	D	0	-11.811	15.403	0.74855	0.0665:0.0:0.9335:0.0	.	186;186;186	E9PQ57;A8K882;P78406	.;.;RAE1L_HUMAN	P	186	ENSP00000379182:A186P;ENSP00000360286:A186P;ENSP00000432609:A186P;ENSP00000379181:A186P	ENSP00000360286:A186P	A	+	1	0	RAE1	55377189	1.000000	0.71417	0.993000	0.49108	0.992000	0.81027	9.573000	0.98181	1.565000	0.49641	0.655000	0.94253	GCA		PASS	0.433	RAE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079842.2			24	98	24	98	---	---	---	---
HMGB1P1	10357	broad.mit.edu	37	20	56063719	56063719	+	IGR	SNP	A	A	G	rs62618695	byFrequency	TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr20:56063719A>G								RBM38 (79330 upstream) : CTCFL (7315 downstream)														p.I122T(1)									AACATCACCAATGGACAGGCC	0.488													A|||	3	0.000599042	0.0	0.0014	5008	,	,		20622	0.0		0.002	False		,,,				2504	0.0					uc010zzl.1																			1	Substitution - Missense(1)		lung(1)								c.(364-366)ATT>ACT		high-mobility group box 1-like 1		A		4,4400		0,4,2198	57.0	58.0	57.0			1.0	1.0	20	dbSNP_129	57	20,8566		0,20,4273	no	intergenic				0,24,6471	GG,GA,AA		0.2329,0.0908,0.1848			56063719	24,12966	2202	4293	6495	SO:0001628	intergenic_variant	0							g.chr20:56063719A>G																													20.37:g.56063719A>G							p.I122T	NM_001008735	NP_001008735					1	365	-									Missense_Mutation	SNP		37	c.365T>C																																																																																				0	PASS	0.488									47	172	47	172	---	---	---	---
APCDD1L	164284	broad.mit.edu	37	20	57035882	57035882	+	Silent	SNP	G	G	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr20:57035882G>T	ENST00000371149.3	-	4	1700	c.1470C>A	c.(1468-1470)ccC>ccA	p.P490P	APCDD1L_ENST00000439429.1_Silent_p.P501P|APCDD1L_ENST00000491015.1_5'Flank	NM_153360.1	NP_699191.1	Q8NCL9	APCDL_HUMAN	adenomatosis polyposis coli down-regulated 1-like	490						integral component of membrane (GO:0016021)		p.P490P(1)		large_intestine(8)|lung(7)|ovary(1)|prostate(1)|skin(1)	18	Lung NSC(12;0.000856)|all_lung(29;0.0025)		BRCA - Breast invasive adenocarcinoma(13;5.6e-11)|Epithelial(14;1.67e-07)|all cancers(14;1.48e-06)			CTAGAACTAGGGGCAGAAGTG	0.617																																						uc002xze.1																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(1468-1470)CCC>CCA		adenomatosis polyposis coli down-regulated							46.0	42.0	43.0					20																	57035882		2203	4300	6503	SO:0001819	synonymous_variant	164284					integral to membrane		g.chr20:57035882G>T	AK074647	CCDS13467.1	20q13.32	2006-07-07			ENSG00000198768	ENSG00000198768			26892	protein-coding gene	gene with protein product							Standard	NM_153360		Approved	FLJ90166	uc002xze.1	Q8NCL9	OTTHUMG00000032845	ENST00000371149.3:c.1470C>A	20.37:g.57035882G>T						APCDD1L_uc010zzp.1_Silent_p.P501P	p.P490P	NM_153360	NP_699191	Q8NCL9	APCDL_HUMAN	BRCA - Breast invasive adenocarcinoma(13;5.6e-11)|Epithelial(14;1.67e-07)|all cancers(14;1.48e-06)		4	1656	-	Lung NSC(12;0.000856)|all_lung(29;0.0025)		490			Helical; (Potential).			Silent	SNP	ENST00000371149.3	37	c.1470C>A	CCDS13467.1																																																																																				PASS	0.617	APCDD1L-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000079881.2	NM_153360		39	48	39	48	---	---	---	---
TUBB1	81027	broad.mit.edu	37	20	57599252	57599252	+	Missense_Mutation	SNP	T	T	C	rs202095800		TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr20:57599252T>C	ENST00000217133.1	+	4	1039	c.770T>C	c.(769-771)aTg>aCg	p.M257T		NM_030773.3	NP_110400.1	Q9H4B7	TBB1_HUMAN	tubulin, beta 1 class VI	257					'de novo' posttranslational protein folding (GO:0051084)|cellular protein metabolic process (GO:0044267)|protein folding (GO:0006457)|protein polymerization (GO:0051258)|spindle assembly (GO:0051225)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)	p.M257T(1)		endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(2)|skin(2)	16	all_lung(29;0.00711)		Colorectal(105;0.109)		Cabazitaxel(DB06772)|Colchicine(DB01394)|Docetaxel(DB01248)|Paclitaxel(DB01229)|Vindesine(DB00309)	GCGGTGAACATGGTCCCCTTC	0.642																																						uc002yak.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(769-771)ATG>ACG		beta tubulin 1, class VI	Colchicine(DB01394)|Docetaxel(DB01248)|Paclitaxel(DB01229)|Vindesine(DB00309)						74.0	64.0	68.0					20																	57599252		2203	4300	6503	SO:0001583	missense	81027				'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity	g.chr20:57599252T>C	AJ292757	CCDS13475.1	20q13.32	2014-09-17	2011-10-10		ENSG00000101162	ENSG00000101162		"""Tubulins"""	16257	protein-coding gene	gene with protein product	"""class VI beta-tubulin"""	612901	"""tubulin, beta 1"""				Standard	NM_030773		Approved	dJ543J19.4	uc002yak.3	Q9H4B7	OTTHUMG00000032860	ENST00000217133.1:c.770T>C	20.37:g.57599252T>C	ENSP00000217133:p.Met257Thr						p.M257T	NM_030773	NP_110400	Q9H4B7	TBB1_HUMAN	Colorectal(105;0.109)		4	1039	+	all_lung(29;0.00711)		257						Missense_Mutation	SNP	ENST00000217133.1	37	c.770T>C	CCDS13475.1	.	.	.	.	.	.	.	.	.	.	T	20.4	3.977670	0.74360	.	.	ENSG00000101162	ENST00000217133	D	0.84873	-1.91	5.19	5.19	0.71726	Tubulin/FtsZ, 2-layer sandwich domain (1);Tubulin/FtsZ, GTPase domain (1);Tubulin/FtsZ, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.92166	0.7516	M	0.84585	2.705	0.80722	D	1	P	0.50943	0.94	P	0.62885	0.908	D	0.93371	0.6735	10	0.87932	D	0	.	14.1922	0.65646	0.0:0.0:0.0:1.0	.	257	Q9H4B7	TBB1_HUMAN	T	257	ENSP00000217133:M257T	ENSP00000217133:M257T	M	+	2	0	TUBB1	57032647	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.040000	0.89188	1.966000	0.57179	0.459000	0.35465	ATG		PASS	0.642	TUBB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079903.1	NM_030773		27	78	27	78	---	---	---	---
SLMO2	51012	broad.mit.edu	37	20	57611616	57611616	+	Silent	SNP	T	T	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr20:57611616T>A	ENST00000355937.4	-	5	553	c.375A>T	c.(373-375)acA>acT	p.T125T	SLMO2_ENST00000371033.5_Silent_p.T95T	NM_016045.2	NP_057129.2	Q9Y3B1	SLMO2_HUMAN	slowmo homolog 2 (Drosophila)	125	PRELI/MSF1. {ECO:0000255|PROSITE- ProRule:PRU00158}.				phospholipid transport (GO:0015914)	mitochondrial intermembrane space (GO:0005758)	phosphatidic acid transporter activity (GO:1990050)	p.T125T(1)		endometrium(1)|lung(2)|skin(2)	5	all_lung(29;0.00711)		Colorectal(105;0.109)			TGGCTTCTTGTGTCAAAACAG	0.383																																						uc002yam.2																			1	Substitution - coding silent(1)		lung(1)	skin(1)	1						c.(373-375)ACA>ACT		slowmo homolog 2							107.0	96.0	99.0					20																	57611616		1879	4111	5990	SO:0001819	synonymous_variant	51012							g.chr20:57611616T>A	AF151865	CCDS42893.1, CCDS58783.1	20q13.32	2008-10-22	2007-02-06	2007-02-06	ENSG00000101166	ENSG00000101166			15892	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 45"""	C20orf45			Standard	NM_016045		Approved	dJ543J19.5, PRELID3B	uc002yam.3	Q9Y3B1	OTTHUMG00000032856	ENST00000355937.4:c.375A>T	20.37:g.57611616T>A						SLMO2_uc010zzv.1_Silent_p.T95T	p.T125T	NM_016045	NP_057129	Q9Y3B1	SLMO2_HUMAN	Colorectal(105;0.109)		5	491	-	all_lung(29;0.00711)		125			PRELI/MSF1.		E1P5I8|Q5JX17|Q9NUL0	Silent	SNP	ENST00000355937.4	37	c.375A>T	CCDS42893.1																																																																																				PASS	0.383	SLMO2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079897.2	NM_016045		42	172	42	172	---	---	---	---
ZNF831	128611	broad.mit.edu	37	20	57767530	57767530	+	Missense_Mutation	SNP	C	C	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr20:57767530C>A	ENST00000371030.2	+	1	1456	c.1456C>A	c.(1456-1458)Cac>Aac	p.H486N		NM_178457.1	NP_848552.1	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	486							metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)	p.H486N(1)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125	all_lung(29;0.0085)					CCTCTTCTTCCACTCCGTCCC	0.687																																						uc002yan.2																			1	Substitution - Missense(1)		lung(1)	skin(13)|ovary(1)	14						c.(1456-1458)CAC>AAC		zinc finger protein 831							29.0	35.0	33.0					20																	57767530		2008	4163	6171	SO:0001583	missense	128611					intracellular	nucleic acid binding|zinc ion binding	g.chr20:57767530C>A	AL121919	CCDS42894.1	20q13.32	2008-10-20	2008-03-25	2008-03-25	ENSG00000124203	ENSG00000124203			16167	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 174"""	C20orf174			Standard	NM_178457		Approved	dJ492J12.1	uc002yan.3	Q5JPB2	OTTHUMG00000032864	ENST00000371030.2:c.1456C>A	20.37:g.57767530C>A	ENSP00000360069:p.His486Asn						p.H486N	NM_178457	NP_848552	Q5JPB2	ZN831_HUMAN			1	1456	+	all_lung(29;0.0085)		486					Q5TDR4|Q8TCP0	Missense_Mutation	SNP	ENST00000371030.2	37	c.1456C>A	CCDS42894.1	.	.	.	.	.	.	.	.	.	.	C	18.02	3.531133	0.64972	.	.	ENSG00000124203	ENST00000371030	T	0.11063	2.81	5.21	5.21	0.72293	.	.	.	.	.	T	0.29256	0.0728	L	0.51422	1.61	0.30361	N	0.783859	D	0.76494	0.999	D	0.70716	0.97	T	0.03121	-1.1070	9	0.72032	D	0.01	-18.081	17.7439	0.88414	0.0:1.0:0.0:0.0	.	486	Q5JPB2	ZN831_HUMAN	N	486	ENSP00000360069:H486N	ENSP00000360069:H486N	H	+	1	0	ZNF831	57200925	1.000000	0.71417	1.000000	0.80357	0.838000	0.47535	1.965000	0.40471	2.423000	0.82170	0.655000	0.94253	CAC		PASS	0.687	ZNF831-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000079916.2	NM_178457		18	62	18	62	---	---	---	---
ZNF831	128611	broad.mit.edu	37	20	57768676	57768676	+	Missense_Mutation	SNP	G	G	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr20:57768676G>T	ENST00000371030.2	+	1	2602	c.2602G>T	c.(2602-2604)Ggc>Tgc	p.G868C		NM_178457.1	NP_848552.1	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	868							metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)	p.G868C(1)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125	all_lung(29;0.0085)					GGTGCCAGGGGGCTCAAAGGA	0.657																																						uc002yan.2																			1	Substitution - Missense(1)		lung(1)	skin(13)|ovary(1)	14						c.(2602-2604)GGC>TGC		zinc finger protein 831							31.0	37.0	35.0					20																	57768676		1961	4142	6103	SO:0001583	missense	128611					intracellular	nucleic acid binding|zinc ion binding	g.chr20:57768676G>T	AL121919	CCDS42894.1	20q13.32	2008-10-20	2008-03-25	2008-03-25	ENSG00000124203	ENSG00000124203			16167	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 174"""	C20orf174			Standard	NM_178457		Approved	dJ492J12.1	uc002yan.3	Q5JPB2	OTTHUMG00000032864	ENST00000371030.2:c.2602G>T	20.37:g.57768676G>T	ENSP00000360069:p.Gly868Cys						p.G868C	NM_178457	NP_848552	Q5JPB2	ZN831_HUMAN			1	2602	+	all_lung(29;0.0085)		868					Q5TDR4|Q8TCP0	Missense_Mutation	SNP	ENST00000371030.2	37	c.2602G>T	CCDS42894.1	.	.	.	.	.	.	.	.	.	.	G	12.74	2.028928	0.35797	.	.	ENSG00000124203	ENST00000371030	T	0.04603	3.59	4.91	-8.56	0.00904	.	3.807690	0.00582	N	0.000336	T	0.02230	0.0069	N	0.08118	0	0.09310	N	1	B	0.12013	0.005	B	0.10450	0.005	T	0.40270	-0.9572	10	0.33141	T	0.24	2.1437	3.6388	0.08160	0.5624:0.1991:0.1265:0.112	.	868	Q5JPB2	ZN831_HUMAN	C	868	ENSP00000360069:G868C	ENSP00000360069:G868C	G	+	1	0	ZNF831	57202071	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.449000	0.06812	-1.598000	0.01607	-0.345000	0.07892	GGC		PASS	0.657	ZNF831-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000079916.2	NM_178457		23	88	23	88	---	---	---	---
PHACTR3	116154	broad.mit.edu	37	20	58330353	58330353	+	Missense_Mutation	SNP	G	G	A	rs371300986		TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr20:58330353G>A	ENST00000371015.1	+	4	942	c.475G>A	c.(475-477)Gcc>Acc	p.A159T	PHACTR3_ENST00000395639.4_Missense_Mutation_p.A118T|PHACTR3_ENST00000361300.4_Missense_Mutation_p.A118T|PHACTR3_ENST00000541461.1_Missense_Mutation_p.A118T|PHACTR3_ENST00000355648.4_Missense_Mutation_p.A118T|PHACTR3_ENST00000359926.3_Missense_Mutation_p.A156T|PHACTR3_ENST00000395636.2_Missense_Mutation_p.A118T	NM_001281507.1|NM_080672.3	NP_001268436.1|NP_542403.1	Q96KR7	PHAR3_HUMAN	phosphatase and actin regulator 3	159						nucleus (GO:0005634)	protein phosphatase inhibitor activity (GO:0004864)	p.A159T(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|liver(2)|lung(32)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	59	all_lung(29;0.00344)		BRCA - Breast invasive adenocarcinoma(7;2.76e-09)			AAGCCCCTTGGCCACTGGGAC	0.612																																						uc002yau.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|pancreas(1)	3						c.(475-477)GCC>ACC		phosphatase and actin regulator 3 isoform 1							43.0	38.0	39.0					20																	58330353		2203	4300	6503	SO:0001583	missense	116154					nuclear matrix	actin binding|protein phosphatase inhibitor activity	g.chr20:58330353G>A	AJ311122	CCDS13480.1, CCDS13481.1, CCDS42895.1, CCDS56202.1	20q13.32-q13.33	2014-06-13	2004-05-20	2004-05-20	ENSG00000087495	ENSG00000087495		"""Phosphatase and actin regulators"""	15833	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 123"""	608725	"""chromosome 20 open reading frame 101"""	C20orf101		15107502	Standard	NM_001199505		Approved	PPP1R123	uc002yau.3	Q96KR7	OTTHUMG00000032869	ENST00000371015.1:c.475G>A	20.37:g.58330353G>A	ENSP00000360054:p.Ala159Thr					PHACTR3_uc002yat.2_Missense_Mutation_p.A156T|PHACTR3_uc010zzw.1_Missense_Mutation_p.A118T|PHACTR3_uc002yav.2_Missense_Mutation_p.A118T|PHACTR3_uc002yaw.2_Missense_Mutation_p.A118T|PHACTR3_uc002yax.2_Missense_Mutation_p.A118T	p.A159T	NM_080672	NP_542403	Q96KR7	PHAR3_HUMAN	BRCA - Breast invasive adenocarcinoma(7;2.76e-09)		4	942	+	all_lung(29;0.00344)		159					B1AKX0|B1AN68|B1AN69|B2RB46|Q32P33|Q707P6|Q9H4T4	Missense_Mutation	SNP	ENST00000371015.1	37	c.475G>A	CCDS13480.1	.	.	.	.	.	.	.	.	.	.	G	9.867	1.197794	0.22037	.	.	ENSG00000087495	ENST00000359926;ENST00000371015;ENST00000395639;ENST00000541461;ENST00000355648;ENST00000395636;ENST00000361300	T;T;T;T;T;T;T	0.31769	1.9;1.91;1.48;1.92;1.92;1.92;1.48	3.6	2.6	0.31112	.	0.190410	0.45606	D	0.000344	T	0.32882	0.0844	L	0.52573	1.65	0.09310	N	1	P;P;P	0.50819	0.939;0.666;0.666	P;B;B	0.52598	0.703;0.162;0.162	T	0.13469	-1.0508	10	0.12430	T	0.62	-5.4091	9.2977	0.37827	0.0:0.2221:0.7779:0.0	.	118;159;156	Q96KR7-3;Q96KR7;B1AKX0	.;PHAR3_HUMAN;.	T	156;159;118;118;118;118;118	ENSP00000353002:A156T;ENSP00000360054:A159T;ENSP00000379001:A118T;ENSP00000442483:A118T;ENSP00000347866:A118T;ENSP00000378998:A118T;ENSP00000354555:A118T	ENSP00000347866:A118T	A	+	1	0	PHACTR3	57763748	0.872000	0.30054	0.008000	0.14137	0.077000	0.17291	3.420000	0.52735	0.766000	0.33244	0.591000	0.81541	GCC		PASS	0.612	PHACTR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079923.3	NM_080672		18	57	18	57	---	---	---	---
PHACTR3	116154	broad.mit.edu	37	20	58342374	58342374	+	Silent	SNP	G	G	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr20:58342374G>T	ENST00000371015.1	+	5	1142	c.675G>T	c.(673-675)gtG>gtT	p.V225V	PHACTR3_ENST00000395639.4_Intron|PHACTR3_ENST00000361300.4_Intron|PHACTR3_ENST00000541461.1_Silent_p.V184V|PHACTR3_ENST00000355648.4_Silent_p.V184V|PHACTR3_ENST00000359926.3_Silent_p.V222V|PHACTR3_ENST00000395636.2_Silent_p.V184V	NM_001281507.1|NM_080672.3	NP_001268436.1|NP_542403.1	Q96KR7	PHAR3_HUMAN	phosphatase and actin regulator 3	225	Pro-rich.					nucleus (GO:0005634)	protein phosphatase inhibitor activity (GO:0004864)	p.V225V(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|liver(2)|lung(32)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	59	all_lung(29;0.00344)		BRCA - Breast invasive adenocarcinoma(7;2.76e-09)			AGAGATCCGTGGGCCAGCTCC	0.627																																						uc002yau.2																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|pancreas(1)	3						c.(673-675)GTG>GTT		phosphatase and actin regulator 3 isoform 1							35.0	34.0	34.0					20																	58342374		2203	4300	6503	SO:0001819	synonymous_variant	116154					nuclear matrix	actin binding|protein phosphatase inhibitor activity	g.chr20:58342374G>T	AJ311122	CCDS13480.1, CCDS13481.1, CCDS42895.1, CCDS56202.1	20q13.32-q13.33	2014-06-13	2004-05-20	2004-05-20	ENSG00000087495	ENSG00000087495		"""Phosphatase and actin regulators"""	15833	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 123"""	608725	"""chromosome 20 open reading frame 101"""	C20orf101		15107502	Standard	NM_001199505		Approved	PPP1R123	uc002yau.3	Q96KR7	OTTHUMG00000032869	ENST00000371015.1:c.675G>T	20.37:g.58342374G>T						PHACTR3_uc002yat.2_Silent_p.V222V|PHACTR3_uc010zzw.1_Silent_p.V184V|PHACTR3_uc002yav.2_Silent_p.V184V|PHACTR3_uc002yaw.2_Silent_p.V184V|PHACTR3_uc002yax.2_Intron	p.V225V	NM_080672	NP_542403	Q96KR7	PHAR3_HUMAN	BRCA - Breast invasive adenocarcinoma(7;2.76e-09)		5	1142	+	all_lung(29;0.00344)		225			Pro-rich.		B1AKX0|B1AN68|B1AN69|B2RB46|Q32P33|Q707P6|Q9H4T4	Silent	SNP	ENST00000371015.1	37	c.675G>T	CCDS13480.1																																																																																				PASS	0.627	PHACTR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079923.3	NM_080672		36	93	36	93	---	---	---	---
CDH4	1002	broad.mit.edu	37	20	60318840	60318840	+	Missense_Mutation	SNP	C	C	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr20:60318840C>A	ENST00000360469.5	+	3	479	c.391C>A	c.(391-393)Cac>Aac	p.H131N	CDH4_ENST00000543233.1_Missense_Mutation_p.H57N|RP11-429E11.2_ENST00000447909.1_RNA|RP11-429E11.2_ENST00000442888.1_RNA	NM_001794.3	NP_001785.2	P55283	CADH4_HUMAN	cadherin 4, type 1, R-cadherin (retinal)	131					adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.H131N(1)		NS(2)|breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(2)|lung(25)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	74			BRCA - Breast invasive adenocarcinoma(19;2.36e-08)			GCACTCTGGACACAAGGTAAG	0.642																																						uc002ybn.1																			1	Substitution - Missense(1)		lung(1)	lung(3)|ovary(2)|skin(1)	6						c.(391-393)CAC>AAC		cadherin 4, type 1 preproprotein							42.0	35.0	37.0					20																	60318840		2196	4298	6494	SO:0001583	missense	1002				adherens junction organization|cell junction assembly		calcium ion binding	g.chr20:60318840C>A	L34059	CCDS13488.1, CCDS58784.1	20q13.3	2010-01-26			ENSG00000179242	ENSG00000179242		"""Cadherins / Major cadherins"""	1763	protein-coding gene	gene with protein product	"""R-Cadherin"""	603006				10191097, 10516427	Standard	NM_001794		Approved		uc002ybn.2	P55283	OTTHUMG00000032890	ENST00000360469.5:c.391C>A	20.37:g.60318840C>A	ENSP00000353656:p.His131Asn					CDH4_uc002ybo.1_RNA|CDH4_uc002ybp.1_Missense_Mutation_p.H57N	p.H131N	NM_001794	NP_001785	P55283	CADH4_HUMAN	BRCA - Breast invasive adenocarcinoma(19;2.36e-08)		3	405	+			131					B3KWB8|G3V1P8|Q2M208|Q5VZ44|Q9BZ05	Missense_Mutation	SNP	ENST00000360469.5	37	c.391C>A	CCDS13488.1	.	.	.	.	.	.	.	.	.	.	C	8.009	0.757080	0.15846	.	.	ENSG00000179242	ENST00000360469;ENST00000536643;ENST00000543233	T;T	0.55234	0.53;0.54	5.0	5.0	0.66597	Cadherin-like (1);	0.674999	0.15221	N	0.273943	T	0.30665	0.0772	N	0.08118	0	0.34880	D	0.744514	B	0.24092	0.097	B	0.18871	0.023	T	0.36383	-0.9750	9	.	.	.	.	11.7538	0.51863	0.0:0.9185:0.0:0.0815	.	131	P55283	CADH4_HUMAN	N	131;39;57	ENSP00000353656:H131N;ENSP00000443301:H57N	.	H	+	1	0	CDH4	59752235	0.999000	0.42202	0.959000	0.39883	0.259000	0.26198	3.273000	0.51623	2.304000	0.77564	0.491000	0.48974	CAC		PASS	0.642	CDH4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079965.2	NM_001794		8	24	8	24	---	---	---	---
CDH4	1002	broad.mit.edu	37	20	60427941	60427941	+	Silent	SNP	G	G	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr20:60427941G>A	ENST00000360469.5	+	6	952	c.864G>A	c.(862-864)gaG>gaA	p.E288E	CDH4_ENST00000543233.1_Silent_p.E214E	NM_001794.3	NP_001785.2	P55283	CADH4_HUMAN	cadherin 4, type 1, R-cadherin (retinal)	288	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.E288E(1)		NS(2)|breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(2)|lung(25)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	74			BRCA - Breast invasive adenocarcinoma(19;2.36e-08)			CCGTGGACGAGGGCTCCAAGC	0.592																																						uc002ybn.1																			1	Substitution - coding silent(1)		lung(1)	lung(3)|ovary(2)|skin(1)	6						c.(862-864)GAG>GAA		cadherin 4, type 1 preproprotein							202.0	163.0	176.0					20																	60427941		2203	4300	6503	SO:0001819	synonymous_variant	1002				adherens junction organization|cell junction assembly		calcium ion binding	g.chr20:60427941G>A	L34059	CCDS13488.1, CCDS58784.1	20q13.3	2010-01-26			ENSG00000179242	ENSG00000179242		"""Cadherins / Major cadherins"""	1763	protein-coding gene	gene with protein product	"""R-Cadherin"""	603006				10191097, 10516427	Standard	NM_001794		Approved		uc002ybn.2	P55283	OTTHUMG00000032890	ENST00000360469.5:c.864G>A	20.37:g.60427941G>A						CDH4_uc002ybp.1_Silent_p.E214E	p.E288E	NM_001794	NP_001785	P55283	CADH4_HUMAN	BRCA - Breast invasive adenocarcinoma(19;2.36e-08)		6	878	+			288			Extracellular (Potential).|Cadherin 2.		B3KWB8|G3V1P8|Q2M208|Q5VZ44|Q9BZ05	Silent	SNP	ENST00000360469.5	37	c.864G>A	CCDS13488.1																																																																																				PASS	0.592	CDH4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079965.2	NM_001794		93	339	93	339	---	---	---	---
DIDO1	11083	broad.mit.edu	37	20	61522319	61522319	+	Missense_Mutation	SNP	C	C	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr20:61522319C>A	ENST00000266070.4	-	15	3859	c.3534G>T	c.(3532-3534)gaG>gaT	p.E1178D	DIDO1_ENST00000395340.1_Missense_Mutation_p.E1178D|DIDO1_ENST00000395335.2_Missense_Mutation_p.E1178D|DIDO1_ENST00000395343.1_Missense_Mutation_p.E1178D	NM_033081.2	NP_149072.2	Q9BTC0	DIDO1_HUMAN	death inducer-obliterator 1	1178					apoptotic signaling pathway (GO:0097190)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)	p.E1178D(1)		NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	99	Breast(26;5.68e-08)					TACCTGGTCCCTCAAAGGGCA	0.602																																					Melanoma(25;381 482 3385 5362 7955 17159 17174 40604 47095)	uc002ydr.1																			1	Substitution - Missense(1)		lung(1)	ovary(3)|skin(3)	6						c.(3532-3534)GAG>GAT		death inducer-obliterator 1 isoform c							77.0	76.0	76.0					20																	61522319		2203	4300	6503	SO:0001583	missense	11083				apoptosis|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding	g.chr20:61522319C>A	AB002331	CCDS13508.2, CCDS13509.1, CCDS33506.1	20q13.33	2013-01-28	2005-11-11	2005-11-11	ENSG00000101191	ENSG00000101191		"""Zinc fingers, PHD-type"""	2680	protein-coding gene	gene with protein product		604140	"""chromosome 20 open reading frame 158"", ""death associated transcription factor 1"""	C20orf158, DATF1		10393935	Standard	NM_033081		Approved	DIO1, dJ885L7.8, FLJ11265, KIAA0333, DIO-1, BYE1	uc002ydr.2	Q9BTC0	OTTHUMG00000032945	ENST00000266070.4:c.3534G>T	20.37:g.61522319C>A	ENSP00000266070:p.Glu1178Asp					DIDO1_uc002yds.1_Missense_Mutation_p.E1178D|DIDO1_uc002ydt.1_Missense_Mutation_p.E1178D|DIDO1_uc002ydu.1_Missense_Mutation_p.E1178D	p.E1178D	NM_033081	NP_149072	Q9BTC0	DIDO1_HUMAN			15	3798	-	Breast(26;5.68e-08)		1178					A8MY65|B9EH82|E1P5I1|O15043|Q3ZTL7|Q3ZTL8|Q4VXS1|Q4VXS2|Q4VXV8|Q4VXV9|Q96D72|Q9BQW0|Q9BW03|Q9H4G6|Q9H4G7|Q9NTU8|Q9NUM8|Q9UFB6	Missense_Mutation	SNP	ENST00000266070.4	37	c.3534G>T	CCDS33506.1	.	.	.	.	.	.	.	.	.	.	C	10.62	1.400135	0.25291	.	.	ENSG00000101191	ENST00000266070;ENST00000395343;ENST00000395340;ENST00000395335	T;T;T;T	0.11385	3.0;3.0;2.78;2.78	5.24	2.27	0.28462	.	0.000000	0.43579	D	0.000553	T	0.08088	0.0202	L	0.37466	1.105	0.80722	D	1	B;P	0.36027	0.312;0.533	B;B	0.39876	0.064;0.312	T	0.35919	-0.9769	10	0.12766	T	0.61	-33.6961	5.8419	0.18639	0.1335:0.6553:0.0:0.2111	.	1178;1178	Q9BTC0-1;Q9BTC0	.;DIDO1_HUMAN	D	1178	ENSP00000266070:E1178D;ENSP00000378752:E1178D;ENSP00000378749:E1178D;ENSP00000378744:E1178D	ENSP00000266070:E1178D	E	-	3	2	DIDO1	60992764	0.996000	0.38824	1.000000	0.80357	0.963000	0.63663	0.364000	0.20325	0.314000	0.23086	-0.126000	0.14955	GAG		PASS	0.602	DIDO1-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000080091.2	NM_080796		40	126	40	126	---	---	---	---
HELZ2	85441	broad.mit.edu	37	20	62192805	62192805	+	Missense_Mutation	SNP	T	T	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr20:62192805T>A	ENST00000467148.1	-	13	6920	c.6851A>T	c.(6850-6852)cAc>cTc	p.H2284L	HELZ2_ENST00000427522.2_Missense_Mutation_p.H1715L	NM_001037335.2	NP_001032412.2	Q9BYK8	HELZ2_HUMAN	helicase with zinc finger 2, transcriptional coactivator	2284	Interaction with THRAP3.				cellular lipid metabolic process (GO:0044255)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	membrane (GO:0016020)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)	p.H2284L(1)									GATCCGGTGGTGCAGGGTGAT	0.637																																						uc002yfm.2																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(2)	2						c.(6850-6852)CAC>CTC		PPAR-alpha interacting complex protein 285							89.0	105.0	99.0					20																	62192805		2203	4300	6503	SO:0001583	missense	85441				cellular lipid metabolic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	ATP binding|DNA binding|helicase activity|ribonuclease activity|RNA binding|transcription coactivator activity|zinc ion binding	g.chr20:62192805T>A	AB201715	CCDS13527.1, CCDS33508.1	20q13.33	2012-09-26			ENSG00000130589	ENSG00000130589			30021	protein-coding gene	gene with protein product	"""peroxisomal proliferator activated receptor A interacting complex 285"", ""PPARG-DBD-interacting protein 1"""	611265				11214970, 12189208, 16239304	Standard	NM_001037335		Approved	PDIP1, PRIC285, KIAA1769	uc002yfm.2	Q9BYK8	OTTHUMG00000032969	ENST00000467148.1:c.6851A>T	20.37:g.62192805T>A	ENSP00000417401:p.His2284Leu					PRIC285_uc002yfl.1_Missense_Mutation_p.H1715L	p.H2284L	NM_001037335	NP_001032412	Q9BYK8	PR285_HUMAN	Epithelial(9;1.27e-08)|all cancers(9;7.32e-08)|BRCA - Breast invasive adenocarcinoma(10;5.15e-06)		14	7743	-	all_cancers(38;2.51e-11)|all_epithelial(29;8.27e-13)		2284					Q3C2G2|Q4VXQ1|Q8TEF3|Q96ND3|Q9C094	Missense_Mutation	SNP	ENST00000467148.1	37	c.6851A>T	CCDS33508.1	.	.	.	.	.	.	.	.	.	.	T	21.0	4.080353	0.76528	.	.	ENSG00000130589	ENST00000427522;ENST00000467148	D;D	0.88586	-2.4;-2.4	4.46	3.31	0.37934	ATPase, AAA+ type, core (1);	0.241640	0.33895	N	0.004453	D	0.93848	0.8032	M	0.84219	2.685	0.54753	D	0.999988	D;D	0.76494	0.999;0.999	D;D	0.83275	0.996;0.996	D	0.93397	0.6757	10	0.87932	D	0	-42.1991	11.0856	0.48084	0.0:0.0:0.1557:0.8443	.	2284;1715	Q9BYK8;Q9BYK8-2	PR285_HUMAN;.	L	1715;2284	ENSP00000393257:H1715L;ENSP00000417401:H2284L	ENSP00000393257:H1715L	H	-	2	0	RP4-697K14.7	61663249	1.000000	0.71417	1.000000	0.80357	0.805000	0.45488	6.695000	0.74593	0.626000	0.30322	0.402000	0.26972	CAC		PASS	0.637	HELZ2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354127.1	NM_001037335		103	177	103	177	---	---	---	---
HELZ2	85441	broad.mit.edu	37	20	62196727	62196727	+	Missense_Mutation	SNP	C	C	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr20:62196727C>T	ENST00000467148.1	-	8	3517	c.3448G>A	c.(3448-3450)Gcc>Acc	p.A1150T	HELZ2_ENST00000427522.2_Missense_Mutation_p.A581T	NM_001037335.2	NP_001032412.2	Q9BYK8	HELZ2_HUMAN	helicase with zinc finger 2, transcriptional coactivator	1150					cellular lipid metabolic process (GO:0044255)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	membrane (GO:0016020)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)	p.A1150T(1)									CCCGAGGAGGCATCGTCCAGC	0.687																																						uc002yfm.2																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(2)	2						c.(3448-3450)GCC>ACC		PPAR-alpha interacting complex protein 285							10.0	11.0	11.0					20																	62196727		2168	4262	6430	SO:0001583	missense	85441				cellular lipid metabolic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	ATP binding|DNA binding|helicase activity|ribonuclease activity|RNA binding|transcription coactivator activity|zinc ion binding	g.chr20:62196727C>T	AB201715	CCDS13527.1, CCDS33508.1	20q13.33	2012-09-26			ENSG00000130589	ENSG00000130589			30021	protein-coding gene	gene with protein product	"""peroxisomal proliferator activated receptor A interacting complex 285"", ""PPARG-DBD-interacting protein 1"""	611265				11214970, 12189208, 16239304	Standard	NM_001037335		Approved	PDIP1, PRIC285, KIAA1769	uc002yfm.2	Q9BYK8	OTTHUMG00000032969	ENST00000467148.1:c.3448G>A	20.37:g.62196727C>T	ENSP00000417401:p.Ala1150Thr					PRIC285_uc002yfl.1_Missense_Mutation_p.A581T	p.A1150T	NM_001037335	NP_001032412	Q9BYK8	PR285_HUMAN	Epithelial(9;1.27e-08)|all cancers(9;7.32e-08)|BRCA - Breast invasive adenocarcinoma(10;5.15e-06)		9	4340	-	all_cancers(38;2.51e-11)|all_epithelial(29;8.27e-13)		1150					Q3C2G2|Q4VXQ1|Q8TEF3|Q96ND3|Q9C094	Missense_Mutation	SNP	ENST00000467148.1	37	c.3448G>A	CCDS33508.1	.	.	.	.	.	.	.	.	.	.	C	12.18	1.861921	0.32884	.	.	ENSG00000130589	ENST00000427522;ENST00000467148	T;T	0.22539	1.95;1.95	4.81	-1.66	0.08265	.	1.497870	0.04003	N	0.296863	T	0.12305	0.0299	N	0.22421	0.69	0.09310	N	1	B;B	0.15719	0.008;0.014	B;B	0.11329	0.003;0.006	T	0.27297	-1.0078	10	0.39692	T	0.17	-0.3192	0.906	0.01284	0.2714:0.2256:0.1042:0.3988	.	1150;581	Q9BYK8;Q9BYK8-2	PR285_HUMAN;.	T	581;1150	ENSP00000393257:A581T;ENSP00000417401:A1150T	ENSP00000393257:A581T	A	-	1	0	RP4-697K14.7	61667171	0.000000	0.05858	0.000000	0.03702	0.092000	0.18411	-0.303000	0.08210	-0.136000	0.11475	0.491000	0.48974	GCC		PASS	0.687	HELZ2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354127.1	NM_001037335		4	11	4	11	---	---	---	---
USP25	29761	broad.mit.edu	37	21	17191131	17191131	+	Missense_Mutation	SNP	T	T	C			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr21:17191131T>C	ENST00000285679.6	+	10	1415	c.1046T>C	c.(1045-1047)tTa>tCa	p.L349S	USP25_ENST00000285681.2_Missense_Mutation_p.L349S|USP25_ENST00000351097.5_Intron|USP25_ENST00000400183.2_Missense_Mutation_p.L349S	NM_013396.3	NP_037528.3	Q9UHP3	UBP25_HUMAN	ubiquitin specific peptidase 25	349	USP.				cellular protein modification process (GO:0006464)|protein K48-linked deubiquitination (GO:0071108)|protein K63-linked deubiquitination (GO:0070536)|proteolysis (GO:0006508)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	peptidase activity (GO:0008233)|SUMO binding (GO:0032183)|ubiquitin-specific protease activity (GO:0004843)	p.L349S(1)		breast(4)|endometrium(6)|kidney(2)|large_intestine(13)|liver(5)|lung(14)|ovary(4)|prostate(1)|skin(1)|urinary_tract(2)	52				Epithelial(23;7.55e-05)|all cancers(11;0.000429)|COAD - Colon adenocarcinoma(22;0.00543)|OV - Ovarian serous cystadenocarcinoma(11;0.00743)|Colorectal(24;0.0116)|Lung(58;0.0853)|LUSC - Lung squamous cell carcinoma(23;0.0889)		ATTGAGTCTTTACATTCAGAG	0.403																																						uc002yjy.1																			1	Substitution - Missense(1)		lung(1)	ovary(3)|liver(2)	5						c.(1045-1047)TTA>TCA		ubiquitin specific peptidase 25							157.0	154.0	155.0					21																	17191131		2203	4300	6503	SO:0001583	missense	29761				protein modification process|ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chr21:17191131T>C	AF170562	CCDS33515.1, CCDS63336.1, CCDS63337.1	21q11.2	2011-02-24	2005-08-08		ENSG00000155313	ENSG00000155313		"""Ubiquitin-specific peptidases"""	12624	protein-coding gene	gene with protein product		604736	"""ubiquitin specific protease 25"""			12838346, 10612803	Standard	NM_013396		Approved	USP21	uc002yjy.1	Q9UHP3	OTTHUMG00000074343	ENST00000285679.6:c.1046T>C	21.37:g.17191131T>C	ENSP00000285679:p.Leu349Ser					USP25_uc011aby.1_Missense_Mutation_p.L349S|USP25_uc002yjz.1_Missense_Mutation_p.L349S|USP25_uc010gla.1_Intron	p.L349S	NM_013396	NP_037528	Q9UHP3	UBP25_HUMAN		Epithelial(23;7.55e-05)|all cancers(11;0.000429)|COAD - Colon adenocarcinoma(22;0.00543)|OV - Ovarian serous cystadenocarcinoma(11;0.00743)|Colorectal(24;0.0116)|Lung(58;0.0853)|LUSC - Lung squamous cell carcinoma(23;0.0889)	10	1263	+			349					C0LSZ0|Q6DHZ9|Q9H9W1	Missense_Mutation	SNP	ENST00000285679.6	37	c.1046T>C	CCDS33515.1	.	.	.	.	.	.	.	.	.	.	T	17.16	3.319635	0.60524	.	.	ENSG00000155313	ENST00000285681;ENST00000285679;ENST00000400183	T;T;T	0.74526	-0.85;-0.85;-0.85	4.93	3.78	0.43462	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.417958	0.23208	N	0.050719	T	0.73885	0.3644	M	0.84948	2.725	0.54753	D	0.999985	B;B;B	0.31274	0.317;0.123;0.074	B;B;B	0.31290	0.06;0.127;0.077	T	0.68985	-0.5265	10	0.21540	T	0.41	.	10.7481	0.46191	0.0:0.0747:0.0:0.9253	.	349;349;349	Q9UHP3-3;Q9UHP3-1;Q9UHP3	.;.;UBP25_HUMAN	S	349	ENSP00000285681:L349S;ENSP00000285679:L349S;ENSP00000383044:L349S	ENSP00000285679:L349S	L	+	2	0	USP25	16113002	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.667000	0.68067	1.025000	0.39708	0.533000	0.62120	TTA		PASS	0.403	USP25-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157964.1			47	238	47	238	---	---	---	---
ADAMTS5	11096	broad.mit.edu	37	21	28305220	28305220	+	Silent	SNP	G	G	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr21:28305220G>T	ENST00000284987.5	-	5	1954	c.1833C>A	c.(1831-1833)gcC>gcA	p.A611A	AP001601.2_ENST00000426771.1_RNA	NM_007038.3	NP_008969.2	Q9UNA0	ATS5_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 5	611	TSP type-1 1. {ECO:0000255|PROSITE- ProRule:PRU00210}.				defense response to bacterium (GO:0042742)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|proteolysis (GO:0006508)	extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	integrin binding (GO:0005178)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.A611A(1)		breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	72						AGCGGTAGATGGCCCTCTTCC	0.522																																					Esophageal Squamous(53;683 1080 10100 14424 45938)	uc002ymg.2																			1	Substitution - coding silent(1)		lung(1)	upper_aerodigestive_tract(2)|ovary(1)|pancreas(1)	4						c.(1831-1833)GCC>GCA		ADAM metallopeptidase with thrombospondin type 1							159.0	108.0	125.0					21																	28305220		2203	4300	6503	SO:0001819	synonymous_variant	11096				proteolysis	proteinaceous extracellular matrix	integrin binding|metalloendopeptidase activity|zinc ion binding	g.chr21:28305220G>T	AF142099	CCDS13579.1	21q21.3	2008-07-31	2008-07-31		ENSG00000154736	ENSG00000154736		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	221	protein-coding gene	gene with protein product	"""aggrecanase-2"""	605007	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 5 (aggrecanase-2)"""			10438522	Standard	NM_007038		Approved	ADMP-2, ADAMTS11	uc002ymg.3	Q9UNA0	OTTHUMG00000078686	ENST00000284987.5:c.1833C>A	21.37:g.28305220G>T							p.A611A	NM_007038	NP_008969	Q9UNA0	ATS5_HUMAN			5	2562	-			611			TSP type-1 1.		Q52LV4|Q9UKP2	Silent	SNP	ENST00000284987.5	37	c.1833C>A	CCDS13579.1																																																																																				PASS	0.522	ADAMTS5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000171648.1			30	17	30	17	---	---	---	---
KRTAP13-1	140258	broad.mit.edu	37	21	31768661	31768661	+	Missense_Mutation	SNP	C	C	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr21:31768661C>A	ENST00000355459.2	+	1	270	c.257C>A	c.(256-258)tCc>tAc	p.S86Y		NM_181599.2	NP_853630.2	Q8IUC0	KR131_HUMAN	keratin associated protein 13-1	86	5 X 10 AA approximate repeats.					intermediate filament (GO:0005882)		p.S86Y(1)		endometrium(1)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						CCCAGAACCTCCTTGCTCTGC	0.602																																						uc002yoa.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(256-258)TCC>TAC		keratin associated protein 13-1							69.0	68.0	68.0					21																	31768661		2203	4300	6503	SO:0001583	missense	140258					intermediate filament		g.chr21:31768661C>A	AJ457066	CCDS13590.2	21q22.11	2013-06-20			ENSG00000198390	ENSG00000198390		"""Keratin associated proteins"""	18924	protein-coding gene	gene with protein product		608718				12359730	Standard	NM_181599		Approved	KAP13.1	uc002yoa.3	Q8IUC0	OTTHUMG00000057800	ENST00000355459.2:c.257C>A	21.37:g.31768661C>A	ENSP00000347635:p.Ser86Tyr						p.S86Y	NM_181599	NP_853630	Q8IUC0	KR131_HUMAN			1	270	+			86			5 X 10 AA approximate repeats.		Q14D20|Q3LI79	Missense_Mutation	SNP	ENST00000355459.2	37	c.257C>A	CCDS13590.2	.	.	.	.	.	.	.	.	.	.	C	12.59	1.984585	0.35036	.	.	ENSG00000198390	ENST00000355459	T	0.04083	3.71	4.51	3.62	0.41486	.	0.000000	0.42053	D	0.000778	T	0.12860	0.0312	L	0.58302	1.8	0.09310	N	1	D	0.71674	0.998	D	0.70487	0.969	T	0.10613	-1.0622	10	0.11485	T	0.65	.	10.8215	0.46608	0.0:0.9066:0.0:0.0934	.	86	Q8IUC0	KR131_HUMAN	Y	86	ENSP00000347635:S86Y	ENSP00000347635:S86Y	S	+	2	0	KRTAP13-1	30690532	0.000000	0.05858	0.011000	0.14972	0.063000	0.16089	0.382000	0.20635	1.479000	0.48272	0.557000	0.71058	TCC		PASS	0.602	KRTAP13-1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128252.3			51	38	51	38	---	---	---	---
KRTAP6-1	337966	broad.mit.edu	37	21	31986182	31986182	+	Silent	SNP	G	G	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr21:31986182G>T	ENST00000329122.2	-	1	67	c.42C>A	c.(40-42)ggC>ggA	p.G14G	KRTAP20-1_ENST00000334664.2_5'Flank	NM_181602.1	NP_853633.1	Q3LI64	KRA61_HUMAN	keratin associated protein 6-1	14						cytosol (GO:0005829)|intermediate filament (GO:0005882)		p.G14G(1)		breast(2)|endometrium(1)|lung(7)	10						AGAACCCATAGCCAGGGGTGC	0.567																																						uc002yop.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(40-42)GGC>GGA		keratin associated protein 6-1							196.0	190.0	192.0					21																	31986182		2203	4300	6503	SO:0001819	synonymous_variant	337966					cytosol|intermediate filament		g.chr21:31986182G>T	AP001708	CCDS13602.1	21q22.1	2006-03-13			ENSG00000184724	ENSG00000184724		"""Keratin associated proteins"""	18931	protein-coding gene	gene with protein product						12359730	Standard	NM_181602		Approved	KAP6.1, C21orf103	uc002yop.3	Q3LI64	OTTHUMG00000057788	ENST00000329122.2:c.42C>A	21.37:g.31986182G>T						KRTAP20-1_uc011ade.1_5'Flank	p.G14G	NM_181602	NP_853633	Q3LI64	KRA61_HUMAN			1	42	-			14						Silent	SNP	ENST00000329122.2	37	c.42C>A	CCDS13602.1																																																																																				PASS	0.567	KRTAP6-1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128240.2	NM_181602		70	43	70	43	---	---	---	---
TIAM1	7074	broad.mit.edu	37	21	32639255	32639255	+	Missense_Mutation	SNP	C	C	G			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr21:32639255C>G	ENST00000286827.3	-	5	505	c.34G>C	c.(34-36)Gag>Cag	p.E12Q	TIAM1_ENST00000469412.1_Intron|TIAM1_ENST00000541036.1_Missense_Mutation_p.E12Q	NM_003253.2	NP_003244.2	Q13009	TIAM1_HUMAN	T-cell lymphoma invasion and metastasis 1	12					apoptotic signaling pathway (GO:0097190)|cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|ephrin receptor signaling pathway (GO:0048013)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of axonogenesis (GO:0050772)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rho GTPase activity (GO:0032321)|Rac protein signal transduction (GO:0016601)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell-cell contact zone (GO:0044291)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)	phospholipid binding (GO:0005543)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|receptor signaling protein activity (GO:0005057)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.E12Q(2)		autonomic_ganglia(3)|breast(7)|central_nervous_system(2)|endometrium(13)|kidney(4)|large_intestine(33)|lung(44)|ovary(2)|prostate(3)|skin(2)|urinary_tract(2)	115						CCATAAAACTCGTGCTCTACA	0.552																																						uc002yow.1																			2	Substitution - Missense(2)		lung(2)	lung(3)|breast(3)|ovary(2)|large_intestine(2)	10						c.(34-36)GAG>CAG		T-cell lymphoma invasion and metastasis 1							53.0	56.0	55.0					21																	32639255		2203	4300	6503	SO:0001583	missense	7074				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cell-cell junction|cytosol	receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity	g.chr21:32639255C>G		CCDS13609.1	21q22.1	2013-01-10			ENSG00000156299	ENSG00000156299		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	11805	protein-coding gene	gene with protein product		600687				8595894, 15340013	Standard	NM_003253		Approved		uc002yow.1	Q13009	OTTHUMG00000084869	ENST00000286827.3:c.34G>C	21.37:g.32639255C>G	ENSP00000286827:p.Glu12Gln					TIAM1_uc011adk.1_Missense_Mutation_p.E12Q|TIAM1_uc011adl.1_Missense_Mutation_p.E12Q|TIAM1_uc002yox.1_Intron	p.E12Q	NM_003253	NP_003244	Q13009	TIAM1_HUMAN			5	506	-			12					B7ZLR6|F5GZ53|Q17RT7	Missense_Mutation	SNP	ENST00000286827.3	37	c.34G>C	CCDS13609.1	.	.	.	.	.	.	.	.	.	.	C	9.755	1.168471	0.21621	.	.	ENSG00000156299	ENST00000286827;ENST00000541036;ENST00000455508	T;T	0.40225	1.05;1.04	5.08	3.99	0.46301	.	0.398820	0.25823	N	0.028066	T	0.22282	0.0537	N	0.08118	0	0.24184	N	0.995574	B;B;B	0.11235	0.004;0.002;0.002	B;B;B	0.08055	0.003;0.001;0.001	T	0.11060	-1.0603	10	0.35671	T	0.21	.	10.8727	0.46894	0.0:0.7809:0.1353:0.0838	.	12;12;12	F5GZ53;B7ZLR6;Q13009	.;.;TIAM1_HUMAN	Q	12	ENSP00000286827:E12Q;ENSP00000441570:E12Q	ENSP00000286827:E12Q	E	-	1	0	TIAM1	31561126	0.960000	0.32886	0.994000	0.49952	0.974000	0.67602	2.259000	0.43259	2.367000	0.80283	0.460000	0.39030	GAG		PASS	0.552	TIAM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000192552.1	NM_003253		35	31	35	31	---	---	---	---
HUNK	30811	broad.mit.edu	37	21	33331214	33331214	+	Missense_Mutation	SNP	G	G	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr21:33331214G>T	ENST00000270112.2	+	5	1166	c.806G>T	c.(805-807)aGc>aTc	p.S269I		NM_014586.1	NP_055401.1	P57058	HUNK_HUMAN	hormonally up-regulated Neu-associated kinase	269	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				multicellular organismal development (GO:0007275)|signal transduction (GO:0007165)		ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)	p.S269I(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|skin(2)|stomach(1)	30						GAGCCTTTCAGCCTGAGGGCT	0.522																																						uc002yph.2																			1	Substitution - Missense(1)		lung(1)	stomach(1)|skin(1)	2						c.(805-807)AGC>ATC		hormonally upregulated Neu-associated kinase							146.0	131.0	136.0					21																	33331214		2203	4300	6503	SO:0001583	missense	30811				multicellular organismal development|signal transduction		ATP binding|protein serine/threonine kinase activity	g.chr21:33331214G>T	AJ271722	CCDS13610.1	21q22.1	2008-06-05	2008-06-05		ENSG00000142149	ENSG00000142149			13326	protein-coding gene	gene with protein product		606532	"""hormonally upregulated Neu-associated kinase"""			10662544, 10830953	Standard	NM_014586		Approved		uc002yph.3	P57058	OTTHUMG00000085019	ENST00000270112.2:c.806G>T	21.37:g.33331214G>T	ENSP00000270112:p.Ser269Ile						p.S269I	NM_014586	NP_055401	P57058	HUNK_HUMAN			5	1166	+			269			Protein kinase.			Missense_Mutation	SNP	ENST00000270112.2	37	c.806G>T	CCDS13610.1	.	.	.	.	.	.	.	.	.	.	G	27.4	4.825747	0.90955	.	.	ENSG00000142149	ENST00000270112	T	0.27720	1.65	4.87	4.87	0.63330	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.044213	0.85682	D	0.000000	T	0.58250	0.2109	M	0.77486	2.375	0.80722	D	1	D	0.76494	0.999	D	0.73708	0.981	T	0.63954	-0.6520	10	0.87932	D	0	-37.6458	18.2097	0.89866	0.0:0.0:1.0:0.0	.	269	P57058	HUNK_HUMAN	I	269	ENSP00000270112:S269I	ENSP00000270112:S269I	S	+	2	0	HUNK	32253085	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	8.988000	0.93501	2.525000	0.85131	0.655000	0.94253	AGC		PASS	0.522	HUNK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000192782.1	NM_014586		121	64	121	64	---	---	---	---
EVA1C	59271	broad.mit.edu	37	21	33840109	33840109	+	Missense_Mutation	SNP	A	A	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr21:33840109A>T	ENST00000300255.2	+	4	1060	c.587A>T	c.(586-588)cAg>cTg	p.Q196L	EVA1C_ENST00000382699.3_Missense_Mutation_p.Q196L|EVA1C_ENST00000401402.3_Missense_Mutation_p.Q196L	NM_058187.3	NP_478067.2	P58658	EVA1C_HUMAN	eva-1 homolog C (C. elegans)	196	SUEL-type lectin 2. {ECO:0000255|PROSITE- ProRule:PRU00260}.					integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)	p.Q196L(1)									AGGAGGACCCAGGAAAGGGAC	0.502																																						uc002ypr.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)|pancreas(1)	3						c.(586-588)CAG>CTG		hypothetical protein LOC59271 precursor							79.0	62.0	68.0					21																	33840109		2203	4300	6503	SO:0001583	missense	59271					integral to membrane	sugar binding	g.chr21:33840109A>T	AF358258	CCDS13614.1, CCDS68186.1	21q22.11	2012-11-05	2012-11-05	2012-11-05	ENSG00000166979	ENSG00000166979			13239	protein-coding gene	gene with protein product			"""chromosome 21 open reading frame 64"", ""chromosome 21 open reading frame 63"", ""family with sequence similarity 176, member C"""	C21orf64, C21orf63, FAM176C		11707072, 19470522	Standard	NM_058187		Approved	B18, PRED34, B19	uc002ypr.1	P58658	OTTHUMG00000064922	ENST00000300255.2:c.587A>T	21.37:g.33840109A>T	ENSP00000300255:p.Gln196Leu					C21orf63_uc002ypq.1_Missense_Mutation_p.Q196L|C21orf63_uc002yps.1_RNA|C21orf63_uc010glw.1_Missense_Mutation_p.Q196L|C21orf63_uc002ypt.1_RNA|C21orf63_uc002ypu.1_Missense_Mutation_p.Q101L	p.Q196L	NM_058187	NP_478067	P58658	CU063_HUMAN			4	997	+			196			SUEL-type lectin 2.|Extracellular (Potential).		A6ND58|Q8IXZ0	Missense_Mutation	SNP	ENST00000300255.2	37	c.587A>T	CCDS13614.1	.	.	.	.	.	.	.	.	.	.	A	14.07	2.425156	0.43020	.	.	ENSG00000166979	ENST00000300255;ENST00000401402;ENST00000382699;ENST00000412833	T;T;T	0.08984	3.06;3.03;3.04	5.61	3.09	0.35607	D-galactoside/L-rhamnose binding SUEL lectin domain (2);	0.483373	0.23766	N	0.044775	T	0.06234	0.0161	L	0.28344	0.845	0.33482	D	0.587647	B;B;B	0.32467	0.213;0.372;0.215	B;B;B	0.30943	0.09;0.122;0.034	T	0.20874	-1.0262	10	0.45353	T	0.12	-19.6555	9.7069	0.40220	0.8026:0.1282:0.0692:0.0	.	196;196;196	A6ND58;P58658;B5MC74	.;CU063_HUMAN;.	L	196;196;196;101	ENSP00000300255:Q196L;ENSP00000384594:Q196L;ENSP00000372146:Q196L	ENSP00000300255:Q196L	Q	+	2	0	C21orf63	32761980	0.995000	0.38212	0.998000	0.56505	0.797000	0.45037	2.718000	0.47236	0.982000	0.38575	-0.262000	0.10625	CAG		PASS	0.502	EVA1C-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000139403.1	NM_058187		42	29	42	29	---	---	---	---
SLC5A3	6526	broad.mit.edu	37	21	35468733	35468733	+	Missense_Mutation	SNP	G	G	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr21:35468733G>T	ENST00000381151.3	+	2	1748	c.1236G>T	c.(1234-1236)agG>agT	p.R412S	AP000320.7_ENST00000362077.4_RNA|MRPS6_ENST00000399312.2_Intron|SLC5A3_ENST00000608209.1_Missense_Mutation_p.R412S			P53794	SC5A3_HUMAN	solute carrier family 5 (sodium/myo-inositol cotransporter), member 3	412					inositol metabolic process (GO:0006020)|peripheral nervous system development (GO:0007422)|regulation of respiratory gaseous exchange (GO:0043576)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	myo-inositol:sodium symporter activity (GO:0005367)	p.R412S(1)		breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	20						TTGTGGGGAGGATATTTGTGG	0.473																																						uc002yto.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(1234-1236)AGG>AGT		solute carrier family 5 (inositol transporters),							101.0	92.0	95.0					21																	35468733		2203	4300	6503	SO:0001583	missense	6526					integral to plasma membrane	myo-inositol:sodium symporter activity	g.chr21:35468733G>T		CCDS33549.1	21q22.11	2013-05-22	2008-09-02		ENSG00000198743	ENSG00000198743		"""Solute carriers"""	11038	protein-coding gene	gene with protein product		600444	"""solute carrier family 5 (inositol transporter), member 3"""			7789985	Standard	NM_006933		Approved	SMIT, SMIT1	uc002yto.3	P53794	OTTHUMG00000065821	ENST00000381151.3:c.1236G>T	21.37:g.35468733G>T	ENSP00000370543:p.Arg412Ser					MRPS6_uc002ytp.2_Intron	p.R412S	NM_006933	NP_008864	P53794	SC5A3_HUMAN			2	1748	+			412			Helical; (Potential).		O43489	Missense_Mutation	SNP	ENST00000381151.3	37	c.1236G>T	CCDS33549.1	.	.	.	.	.	.	.	.	.	.	G	14.15	2.450024	0.43531	.	.	ENSG00000198743	ENST00000381151	D	0.88509	-2.39	5.54	4.47	0.54385	.	0.000000	0.85682	D	0.000000	D	0.95548	0.8553	H	0.95712	3.71	0.49915	D	0.999835	D	0.89917	1.0	D	0.97110	1.0	D	0.95684	0.8734	10	0.87932	D	0	.	10.5426	0.45041	0.1654:0.0:0.8346:0.0	.	412	P53794	SC5A3_HUMAN	S	412	ENSP00000370543:R412S	ENSP00000370543:R412S	R	+	3	2	SLC5A3	34390603	0.994000	0.37717	1.000000	0.80357	0.993000	0.82548	1.024000	0.30077	2.607000	0.88179	0.655000	0.94253	AGG		PASS	0.473	SLC5A3-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	protein_coding	protein_coding	OTTHUMT00000141037.1			62	57	62	57	---	---	---	---
DSCAM	1826	broad.mit.edu	37	21	41385199	41385199	+	Missense_Mutation	SNP	C	C	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr21:41385199C>A	ENST00000400454.1	-	33	6278	c.5801G>T	c.(5800-5802)aGc>aTc	p.S1934I		NM_001271534.1|NM_001389.3	NP_001258463.1|NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	1934				HRPGDLIHLPPYLRMDFLLNRGGPGTSRDLSLGQACLEPQK SRTLKRPTVLEPIPMEAASSASSTREGQSWQPGAVATLPQR EGAELGQAAKMSSSQESLLDSRGHLKGNNPYAKSYTLV -> IGQVTSYICLHTLEWTFC (in Ref. 1; AAC17966). {ECO:0000305}.	cell adhesion (GO:0007155)|dendrite morphogenesis (GO:0048813)|dendrite self-avoidance (GO:0070593)|locomotory behavior (GO:0007626)|negative regulation of cell adhesion (GO:0007162)|nervous system development (GO:0007399)|positive regulation of axon extension involved in axon guidance (GO:0048842)|positive regulation of phosphorylation (GO:0042327)|post-embryonic retina morphogenesis in camera-type eye (GO:0060060)	axon (GO:0030424)|extracellular region (GO:0005576)|growth cone (GO:0030426)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)		p.S1934I(1)		NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				CAGGGTCCGGCTTTTCTGAGG	0.607																																					Melanoma(134;970 1778 1785 21664 32388)	uc002yyq.1																			1	Substitution - Missense(1)		lung(1)	ovary(6)|skin(4)|upper_aerodigestive_tract(1)	11						c.(5800-5802)AGC>ATC		Down syndrome cell adhesion molecule isoform							45.0	47.0	46.0					21																	41385199		1962	4146	6108	SO:0001583	missense	1826				cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding	g.chr21:41385199C>A	AF023449	CCDS42929.1	21q22.2-q22.3	2013-02-11			ENSG00000171587	ENSG00000171587		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	3039	protein-coding gene	gene with protein product		602523				9426258	Standard	NM_001271534		Approved	CHD2-42, CHD2-52	uc002yyq.1	O60469	OTTHUMG00000086732	ENST00000400454.1:c.5801G>T	21.37:g.41385199C>A	ENSP00000383303:p.Ser1934Ile					DSCAM_uc002yyr.1_RNA	p.S1934I	NM_001389	NP_001380	O60469	DSCAM_HUMAN			33	6253	-		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)	1934	HRPGDLIHLPPYLRMDFLLNRGGPGTSRDLSLGQACLEPQK SRTLKRPTVLEPIPMEAASSASSTREGQSWQPGAVATLPQR EGAELGQAAKMSSSQESLLDSRGHLKGNNPYAKSYTLV -> IGQVTSYICLHTLEWTFC (in Ref. 1; AAC17966).		Cytoplasmic (Potential).		O60468	Missense_Mutation	SNP	ENST00000400454.1	37	c.5801G>T	CCDS42929.1	.	.	.	.	.	.	.	.	.	.	.	17.30	3.355137	0.61293	.	.	ENSG00000171587	ENST00000400454;ENST00000404019	T;T	0.65364	0.02;-0.15	5.29	5.29	0.74685	.	0.043091	0.85682	D	0.000000	T	0.68705	0.3030	N	0.19112	0.55	0.51012	D	0.999909	D	0.65815	0.995	D	0.75484	0.986	T	0.71925	-0.4445	10	0.51188	T	0.08	.	18.9499	0.92637	0.0:1.0:0.0:0.0	.	1934	O60469	DSCAM_HUMAN	I	1934;1668	ENSP00000383303:S1934I;ENSP00000385342:S1668I	ENSP00000383303:S1934I	S	-	2	0	DSCAM	40307069	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	5.584000	0.67490	2.464000	0.83262	0.557000	0.71058	AGC		PASS	0.607	DSCAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195029.1	NM_001389		47	35	47	35	---	---	---	---
DSCAM	1826	broad.mit.edu	37	21	41684139	41684139	+	Missense_Mutation	SNP	G	G	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr21:41684139G>A	ENST00000400454.1	-	9	2408	c.1931C>T	c.(1930-1932)aCc>aTc	p.T644I		NM_001271534.1|NM_001389.3	NP_001258463.1|NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	644	Ig-like C2-type 7.				cell adhesion (GO:0007155)|dendrite morphogenesis (GO:0048813)|dendrite self-avoidance (GO:0070593)|locomotory behavior (GO:0007626)|negative regulation of cell adhesion (GO:0007162)|nervous system development (GO:0007399)|positive regulation of axon extension involved in axon guidance (GO:0048842)|positive regulation of phosphorylation (GO:0042327)|post-embryonic retina morphogenesis in camera-type eye (GO:0060060)	axon (GO:0030424)|extracellular region (GO:0005576)|growth cone (GO:0030426)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)		p.T644I(1)		NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				ATTGTCAATGGTCACCCCAAG	0.557																																					Melanoma(134;970 1778 1785 21664 32388)	uc002yyq.1																			1	Substitution - Missense(1)		lung(1)	ovary(6)|skin(4)|upper_aerodigestive_tract(1)	11						c.(1930-1932)ACC>ATC		Down syndrome cell adhesion molecule isoform							76.0	76.0	76.0					21																	41684139		1915	4143	6058	SO:0001583	missense	1826				cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding	g.chr21:41684139G>A	AF023449	CCDS42929.1	21q22.2-q22.3	2013-02-11			ENSG00000171587	ENSG00000171587		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	3039	protein-coding gene	gene with protein product		602523				9426258	Standard	NM_001271534		Approved	CHD2-42, CHD2-52	uc002yyq.1	O60469	OTTHUMG00000086732	ENST00000400454.1:c.1931C>T	21.37:g.41684139G>A	ENSP00000383303:p.Thr644Ile					DSCAM_uc002yyr.1_RNA	p.T644I	NM_001389	NP_001380	O60469	DSCAM_HUMAN			9	2383	-		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)	644			Extracellular (Potential).|Ig-like C2-type 7.		O60468	Missense_Mutation	SNP	ENST00000400454.1	37	c.1931C>T	CCDS42929.1	.	.	.	.	.	.	.	.	.	.	G	21.3	4.122428	0.77436	.	.	ENSG00000171587	ENST00000400454;ENST00000404019	T;T	0.67523	-0.27;-0.27	5.55	5.55	0.83447	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.79476	0.4452	L	0.55990	1.75	0.44462	D	0.997399	D	0.89917	1.0	D	0.87578	0.998	T	0.76913	-0.2783	10	0.38643	T	0.18	.	19.5017	0.95097	0.0:0.0:1.0:0.0	.	644	O60469	DSCAM_HUMAN	I	644;396	ENSP00000383303:T644I;ENSP00000385342:T396I	ENSP00000383303:T644I	T	-	2	0	DSCAM	40606009	1.000000	0.71417	0.995000	0.50966	0.987000	0.75469	7.739000	0.84976	2.596000	0.87737	0.563000	0.77884	ACC		PASS	0.557	DSCAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195029.1	NM_001389		48	50	48	50	---	---	---	---
DSCAM	1826	broad.mit.edu	37	21	41711138	41711138	+	Missense_Mutation	SNP	G	G	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr21:41711138G>T	ENST00000400454.1	-	7	1892	c.1415C>A	c.(1414-1416)tCc>tAc	p.S472Y		NM_001271534.1|NM_001389.3	NP_001258463.1|NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	472	Ig-like C2-type 5.				cell adhesion (GO:0007155)|dendrite morphogenesis (GO:0048813)|dendrite self-avoidance (GO:0070593)|locomotory behavior (GO:0007626)|negative regulation of cell adhesion (GO:0007162)|nervous system development (GO:0007399)|positive regulation of axon extension involved in axon guidance (GO:0048842)|positive regulation of phosphorylation (GO:0042327)|post-embryonic retina morphogenesis in camera-type eye (GO:0060060)	axon (GO:0030424)|extracellular region (GO:0005576)|growth cone (GO:0030426)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)		p.S472Y(1)		NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				CTGGGAGCTGGAGATGTTCAG	0.597																																					Melanoma(134;970 1778 1785 21664 32388)	uc002yyq.1																			1	Substitution - Missense(1)		lung(1)	ovary(6)|skin(4)|upper_aerodigestive_tract(1)	11						c.(1414-1416)TCC>TAC		Down syndrome cell adhesion molecule isoform							81.0	84.0	83.0					21																	41711138		2082	4204	6286	SO:0001583	missense	1826				cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding	g.chr21:41711138G>T	AF023449	CCDS42929.1	21q22.2-q22.3	2013-02-11			ENSG00000171587	ENSG00000171587		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	3039	protein-coding gene	gene with protein product		602523				9426258	Standard	NM_001271534		Approved	CHD2-42, CHD2-52	uc002yyq.1	O60469	OTTHUMG00000086732	ENST00000400454.1:c.1415C>A	21.37:g.41711138G>T	ENSP00000383303:p.Ser472Tyr					DSCAM_uc002yyr.1_RNA	p.S472Y	NM_001389	NP_001380	O60469	DSCAM_HUMAN			7	1867	-		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)	472			Extracellular (Potential).|Ig-like C2-type 5.		O60468	Missense_Mutation	SNP	ENST00000400454.1	37	c.1415C>A	CCDS42929.1	.	.	.	.	.	.	.	.	.	.	G	16.72	3.202268	0.58234	.	.	ENSG00000171587	ENST00000400454;ENST00000404019	T;T	0.68765	-0.35;-0.35	5.87	5.87	0.94306	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.323197	0.31922	N	0.006845	T	0.78916	0.4359	L	0.58428	1.81	0.47183	D	0.999347	D	0.61080	0.989	P	0.61070	0.883	T	0.79230	-0.1889	10	0.72032	D	0.01	.	20.191	0.98230	0.0:0.0:1.0:0.0	.	472	O60469	DSCAM_HUMAN	Y	472;224	ENSP00000383303:S472Y;ENSP00000385342:S224Y	ENSP00000383303:S472Y	S	-	2	0	DSCAM	40633008	1.000000	0.71417	1.000000	0.80357	0.298000	0.27526	3.334000	0.52097	2.778000	0.95560	0.591000	0.81541	TCC		PASS	0.597	DSCAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195029.1	NM_001389		56	43	56	43	---	---	---	---
DSCAM	1826	broad.mit.edu	37	21	41741060	41741060	+	Silent	SNP	C	C	G	rs375118878		TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr21:41741060C>G	ENST00000400454.1	-	4	1098	c.621G>C	c.(619-621)acG>acC	p.T207T		NM_001271534.1|NM_001389.3	NP_001258463.1|NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	207	Ig-like C2-type 2.				cell adhesion (GO:0007155)|dendrite morphogenesis (GO:0048813)|dendrite self-avoidance (GO:0070593)|locomotory behavior (GO:0007626)|negative regulation of cell adhesion (GO:0007162)|nervous system development (GO:0007399)|positive regulation of axon extension involved in axon guidance (GO:0048842)|positive regulation of phosphorylation (GO:0042327)|post-embryonic retina morphogenesis in camera-type eye (GO:0060060)	axon (GO:0030424)|extracellular region (GO:0005576)|growth cone (GO:0030426)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)		p.T207T(1)		NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				TGCTCTGCCTCGTCTCTCCGG	0.448																																					Melanoma(134;970 1778 1785 21664 32388)	uc002yyq.1																			1	Substitution - coding silent(1)		lung(1)	ovary(6)|skin(4)|upper_aerodigestive_tract(1)	11						c.(619-621)ACG>ACC		Down syndrome cell adhesion molecule isoform							95.0	96.0	96.0					21																	41741060		1960	4146	6106	SO:0001819	synonymous_variant	1826				cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding	g.chr21:41741060C>G	AF023449	CCDS42929.1	21q22.2-q22.3	2013-02-11			ENSG00000171587	ENSG00000171587		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	3039	protein-coding gene	gene with protein product		602523				9426258	Standard	NM_001271534		Approved	CHD2-42, CHD2-52	uc002yyq.1	O60469	OTTHUMG00000086732	ENST00000400454.1:c.621G>C	21.37:g.41741060C>G						DSCAM_uc002yyr.1_RNA	p.T207T	NM_001389	NP_001380	O60469	DSCAM_HUMAN			4	1073	-		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)	207			Ig-like C2-type 2.|Extracellular (Potential).		O60468	Silent	SNP	ENST00000400454.1	37	c.621G>C	CCDS42929.1																																																																																				PASS	0.448	DSCAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195029.1	NM_001389		70	45	70	45	---	---	---	---
UMODL1	89766	broad.mit.edu	37	21	43528457	43528457	+	Intron	SNP	A	A	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr21:43528457A>T	ENST00000408910.2	+	10	1519				UMODL1_ENST00000400427.1_Intron|C21orf128_ENST00000329015.2_Silent_p.A12A|UMODL1_ENST00000408989.2_Intron|UMODL1_ENST00000400424.2_Intron	NM_001004416.2	NP_001004416	Q5DID0	UROL1_HUMAN	uromodulin-like 1						adipose tissue development (GO:0060612)|cellular response to gonadotropin-releasing hormone (GO:0097211)|multicellular organismal reproductive process (GO:0048609)|regulation of apoptotic process (GO:0042981)|regulation of gene expression (GO:0010468)|regulation of ovarian follicle development (GO:2000354)|single fertilization (GO:0007338)	cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|peptidase inhibitor activity (GO:0030414)			breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(22)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	47						GGTTGGCACCAGCAGTGTTCT	0.612																																					Pancreas(122;680 807 13940 14411 22888 25505 31742 36028 36332 38435)	uc002zak.2																			0					0						c.(34-36)GCT>GCA		RecName: Full=Uncharacterized protein C21orf128;							60.0	60.0	60.0					21																	43528457		1566	3582	5148	SO:0001627	intron_variant	150147							g.chr21:43528457A>T		CCDS42935.1, CCDS42936.1, CCDS56214.1, CCDS56215.1	21q22.3	2008-07-04			ENSG00000177398	ENSG00000177398			12560	protein-coding gene	gene with protein product	"""olfactorin"""	613859				16026467	Standard	NM_173568		Approved		uc002zag.1	Q5DID0	OTTHUMG00000086788	ENST00000408910.2:c.1520-1215A>T	21.37:g.43528457A>T						UMODL1_uc002zad.1_Intron|UMODL1_uc002zae.1_Intron|UMODL1_uc002zaf.1_Intron|UMODL1_uc002zag.1_Intron	p.A12A	NR_027243						1	188	-								C9JCE6|Q5DIC9|Q6LA40|Q6LA41|Q8N216	Silent	SNP	ENST00000408910.2	37	c.36T>A	CCDS42936.1																																																																																				PASS	0.612	UMODL1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195292.2			11	7	11	7	---	---	---	---
DNMT3L	29947	broad.mit.edu	37	21	45679433	45679433	+	Splice_Site	SNP	C	C	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr21:45679433C>A	ENST00000418993.1	-	5	715		c.e5-1		DNMT3L_ENST00000270172.3_Splice_Site	NM_175867.2	NP_787063.1	Q9UJW3	DNM3L_HUMAN	DNA (cytosine-5-)-methyltransferase 3-like						chorionic trophoblast cell differentiation (GO:0060718)|DNA methylation (GO:0006306)|in utero embryonic development (GO:0001701)|negative regulation of transcription, DNA-templated (GO:0045892)|placenta development (GO:0001890)|positive regulation of catalytic activity (GO:0043085)|regulation of gene expression by genetic imprinting (GO:0006349)|spermatogenesis (GO:0007283)	condensed nuclear chromosome (GO:0000794)|cytosol (GO:0005829)|nuclear heterochromatin (GO:0005720)|nucleus (GO:0005634)	enzyme activator activity (GO:0008047)|enzyme binding (GO:0019899)|metal ion binding (GO:0046872)	p.?(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|skin(3)	11				Colorectal(79;0.0165)|READ - Rectum adenocarcinoma(84;0.0781)		GGAACTTGTCCTTGGAAGGAG	0.587																																						uc002zeg.1																			1	Unknown(1)		lung(1)	skin(2)	2						c.e5-1		cytosine-5-methyltransferase 3-like protein							130.0	110.0	117.0					21																	45679433		2202	4300	6502	SO:0001630	splice_region_variant	29947				DNA methylation|negative regulation of transcription, DNA-dependent|regulation of gene expression by genetic imprinting|spermatogenesis	cytosol	enzyme activator activity|enzyme binding|metal ion binding	g.chr21:45679433C>A	AF194032	CCDS13705.1	21q22.3	2008-07-31			ENSG00000142182	ENSG00000142182			2980	protein-coding gene	gene with protein product	"""cytosine-5-methyltransferase 3-like protein"", ""human cytosine-5-methyltransferase 3-like protein"""	606588				10857753	Standard	NM_013369		Approved	MGC1090	uc002zeh.2	Q9UJW3	OTTHUMG00000086914	ENST00000418993.1:c.232-1G>T	21.37:g.45679433C>A						DNMT3L_uc002zeh.1_Splice_Site_p.D78_splice	p.D78_splice	NM_175867	NP_787063	Q9UJW3	DNM3L_HUMAN		Colorectal(79;0.0165)|READ - Rectum adenocarcinoma(84;0.0781)	5	716	-								E9PB42|Q9BUJ4	Splice_Site	SNP	ENST00000418993.1	37	c.232_splice	CCDS46650.1	.	.	.	.	.	.	.	.	.	.	C	15.96	2.985552	0.53934	.	.	ENSG00000142182	ENST00000270172;ENST00000418993;ENST00000431166	.	.	.	3.74	3.74	0.42951	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.3082	0.49347	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	DNMT3L	44503861	1.000000	0.71417	0.993000	0.49108	0.781000	0.44180	5.669000	0.68081	2.369000	0.80426	0.591000	0.81541	.		PASS	0.587	DNMT3L-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000195820.1	NM_013369	Intron	69	41	69	41	---	---	---	---
POTEH	23784	broad.mit.edu	37	22	16287481	16287481	+	Missense_Mutation	SNP	C	C	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr22:16287481C>A	ENST00000343518.6	-	1	456	c.405G>T	c.(403-405)atG>atT	p.M135I		NM_001136213.1	NP_001129685.1	Q6S545	POTEH_HUMAN	POTE ankyrin domain family, member H	135								p.M135I(1)		NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(20)|ovary(1)|skin(7)|urinary_tract(2)	37						ACCACTTGCCCATCTTGCTCC	0.617																																						uc010gqp.2																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(403-405)ATG>ATT		ANKRD26-like family C, member 3							50.0	62.0	58.0					22																	16287481		1481	2989	4470	SO:0001583	missense	23784							g.chr22:16287481C>A	AY462874	CCDS74808.1	22q11.1	2013-01-10	2008-11-26	2008-11-26	ENSG00000198062	ENSG00000198062		"""POTE ankyrin domain containing"", ""Ankyrin repeat domain containing"""	133	protein-coding gene	gene with protein product	"""cancer/testis antigen family 104, member 7"""	608913	"""actin, beta-like 1"", ""ANKRD26-like family C, member 3"""	ACTBL1, A26C3		10591208, 15276201, 21439273	Standard	NM_001136213		Approved	POTE22, CT104.7	uc010gqp.2	Q6S545	OTTHUMG00000140314	ENST00000343518.6:c.405G>T	22.37:g.16287481C>A	ENSP00000340610:p.Met135Ile					POTEH_uc002zlg.1_5'Flank|POTEH_uc002zlh.1_5'Flank|POTEH_uc002zlj.1_Intron	p.M135I	NM_001136213	NP_001129685	Q6S545	POTEH_HUMAN			1	457	-			135					A2CEK4|A6NCI1|A9Z1W0	Missense_Mutation	SNP	ENST00000343518.6	37	c.405G>T	CCDS46658.1	.	.	.	.	.	.	.	.	.	.	.	4.176	0.031241	0.08101	.	.	ENSG00000198062	ENST00000359587;ENST00000343518;ENST00000355872	T	0.25250	1.81	.	.	.	.	.	.	.	.	T	0.19127	0.0459	L	0.50333	1.59	0.09310	N	1	B	0.29481	0.245	B	0.23852	0.049	T	0.20638	-1.0269	7	0.24483	T	0.36	.	.	.	.	.	135	Q6S545	POTEH_HUMAN	I	98;135;135	ENSP00000340610:M135I	ENSP00000340610:M135I	M	-	3	0	POTEH	14667481	0.007000	0.16637	0.024000	0.17045	0.104000	0.19210	0.208000	0.17415	0.422000	0.26005	0.000000	0.15137	ATG		PASS	0.617	POTEH-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000276918.4	NM_001136213		60	195	60	195	---	---	---	---
GAB4	128954	broad.mit.edu	37	22	17446085	17446085	+	Missense_Mutation	SNP	C	C	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr22:17446085C>A	ENST00000400588.1	-	7	1469	c.1362G>T	c.(1360-1362)gaG>gaT	p.E454D	GAB4_ENST00000523144.1_5'Flank	NM_001037814.1	NP_001032903.1	Q2WGN9	GAB4_HUMAN	GRB2-associated binding protein family, member 4	454								p.E454D(1)		breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(24)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	44		all_epithelial(15;0.112)|Lung NSC(13;0.248)				CAGACCAGGGCTCTGTGACAG	0.567																																						uc002zlw.2																			1	Substitution - Missense(1)		lung(1)	large_intestine(1)|ovary(1)	2						c.(1360-1362)GAG>GAT		GRB2-associated binding protein family, member							139.0	143.0	141.0					22																	17446085		1978	4166	6144	SO:0001583	missense	128954							g.chr22:17446085C>A	AK057252	CCDS42976.1	22q11.2	2013-01-10			ENSG00000215568	ENSG00000215568		"""Pleckstrin homology (PH) domain containing"""	18325	protein-coding gene	gene with protein product							Standard	NM_001037814		Approved		uc002zlw.3	Q2WGN9	OTTHUMG00000149992	ENST00000400588.1:c.1362G>T	22.37:g.17446085C>A	ENSP00000383431:p.Glu454Asp						p.E454D	NM_001037814	NP_001032903	Q2WGN9	GAB4_HUMAN			7	1470	-		all_epithelial(15;0.112)|Lung NSC(13;0.248)	454						Missense_Mutation	SNP	ENST00000400588.1	37	c.1362G>T	CCDS42976.1	.	.	.	.	.	.	.	.	.	.	C	4.177	0.031491	0.08101	.	.	ENSG00000215568	ENST00000400588	T	0.16897	2.31	1.84	-0.399	0.12415	.	0.380242	0.32357	N	0.006217	T	0.07548	0.0190	N	0.22421	0.69	0.21064	N	0.999793	B	0.34061	0.436	B	0.24974	0.057	T	0.30238	-0.9985	10	0.30078	T	0.28	.	6.0499	0.19779	0.0:0.692:0.0:0.308	.	454	Q2WGN9	GAB4_HUMAN	D	454	ENSP00000383431:E454D	ENSP00000383431:E454D	E	-	3	2	GAB4	15826085	1.000000	0.71417	0.896000	0.35187	0.001000	0.01503	3.144000	0.50616	-0.037000	0.13646	-0.970000	0.02610	GAG		PASS	0.567	GAB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315426.1	XM_372882		37	28	37	28	---	---	---	---
CECR5	27440	broad.mit.edu	37	22	17619154	17619154	+	Silent	SNP	C	C	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr22:17619154C>A	ENST00000336737.4	-	8	1054	c.1029G>T	c.(1027-1029)ggG>ggT	p.G343G	CECR5_ENST00000399852.3_Silent_p.G143G|CECR5_ENST00000155674.5_Silent_p.G313G	NM_033070.2	NP_149061.1	Q9BXW7	CECR5_HUMAN	cat eye syndrome chromosome region, candidate 5	343						mitochondrion (GO:0005739)		p.G343G(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|liver(1)|lung(10)|pancreas(1)|prostate(1)	21		all_epithelial(15;0.0181)|Lung NSC(13;0.109)|all_lung(157;0.132)				GCCGTGTGCCCCCGGCCCCTA	0.602																																						uc002zmf.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(1027-1029)GGG>GGT		cat eye syndrome chromosome region, candidate 5							73.0	68.0	69.0					22																	17619154		2203	4300	6503	SO:0001819	synonymous_variant	27440						hydrolase activity	g.chr22:17619154C>A	AF273270	CCDS13741.1, CCDS33595.1	22q11.2	2008-06-12			ENSG00000069998	ENSG00000069998			1843	protein-coding gene	gene with protein product						11381032	Standard	NM_017829		Approved		uc002zmf.3	Q9BXW7	OTTHUMG00000150071	ENST00000336737.4:c.1029G>T	22.37:g.17619154C>A						CECR5_uc002zmd.2_Silent_p.G154G|CECR5_uc002zme.2_Silent_p.G135G|CECR5_uc002zmg.2_Silent_p.G143G|CECR5_uc002zmh.2_Silent_p.G313G	p.G343G	NM_033070	NP_149061	Q9BXW7	CECR5_HUMAN			8	1057	-		all_epithelial(15;0.0181)|Lung NSC(13;0.109)|all_lung(157;0.132)	343					B2RCK5|Q9BXW8|Q9NWA8|Q9NX41	Silent	SNP	ENST00000336737.4	37	c.1029G>T	CCDS33595.1																																																																																				PASS	0.602	CECR5-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316100.1	NM_017829		28	32	28	32	---	---	---	---
TXNRD2	10587	broad.mit.edu	37	22	19885649	19885649	+	Silent	SNP	C	C	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr22:19885649C>A	ENST00000400521.1	-	10	693	c.687G>T	c.(685-687)gtG>gtT	p.V229V	TXNRD2_ENST00000400518.1_Silent_p.V199V|TXNRD2_ENST00000334363.9_Silent_p.V229V|TXNRD2_ENST00000400519.1_Silent_p.V228V|TXNRD2_ENST00000491939.1_5'UTR|TXNRD2_ENST00000535882.1_Silent_p.V228V|TXNRD2_ENST00000542719.1_Silent_p.V199V	NM_006440.3	NP_006431.2	Q9NNW7	TRXR2_HUMAN	thioredoxin reductase 2	229					cell redox homeostasis (GO:0045454)|heart development (GO:0007507)|hemopoiesis (GO:0030097)|response to oxygen radical (GO:0000305)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	flavin adenine dinucleotide binding (GO:0050660)|NADP binding (GO:0050661)|thioredoxin-disulfide reductase activity (GO:0004791)	p.V229V(1)		breast(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(12)|ovary(3)|urinary_tract(2)	30	Colorectal(54;0.0993)					ACTCCAGGGCCACATCTGTGG	0.612																																						uc011ahc.1																			1	Substitution - coding silent(1)		lung(1)	ovary(2)	2						c.(685-687)GTG>GTT		thioredoxin reductase 2 precursor							22.0	28.0	26.0					22																	19885649		2073	4172	6245	SO:0001819	synonymous_variant	10587				cell redox homeostasis|response to oxygen radical	mitochondrion	flavin adenine dinucleotide binding|NADP binding|thioredoxin-disulfide reductase activity	g.chr22:19885649C>A	AF106697	CCDS42981.1, CCDS63402.1	22q11.21	2014-09-17			ENSG00000184470	ENSG00000184470			18155	protein-coding gene	gene with protein product	"""thioredoxin reductase beta"", ""selenoprotein Z"""	606448				9923614, 10215850, 11012661	Standard	NM_006440		Approved	TR, TRXR2, TR3	uc021wlj.1	Q9NNW7	OTTHUMG00000149975	ENST00000400521.1:c.687G>T	22.37:g.19885649C>A						TXNRD2_uc002zql.1_5'UTR|TXNRD2_uc002zqm.1_RNA|TXNRD2_uc002zqn.1_RNA|TXNRD2_uc002zqo.1_RNA|TXNRD2_uc002zqp.1_RNA|TXNRD2_uc002zqr.1_Silent_p.V228V|TXNRD2_uc010grv.1_Silent_p.V229V|TXNRD2_uc002zqj.1_RNA|TXNRD2_uc002zqs.2_Silent_p.V197V	p.V229V	NM_006440	NP_006431	Q9NNW7	TRXR2_HUMAN			10	720	-	Colorectal(54;0.0993)		229					O95840|Q96IJ2|Q9H2Z5|Q9NZV3|Q9NZV4|Q9P2Y0|Q9P2Y1|Q9UQU8	Silent	SNP	ENST00000400521.1	37	c.687G>T	CCDS42981.1																																																																																				PASS	0.612	TXNRD2-003	KNOWN	NMD_exception|basic|appris_candidate_longest|CCDS|seleno	protein_coding	protein_coding	OTTHUMT00000314903.3	NM_006440		3	4	3	4	---	---	---	---
RSPH14	27156	broad.mit.edu	37	22	23406114	23406114	+	Missense_Mutation	SNP	G	G	T	rs370735019		TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr22:23406114G>T	ENST00000216036.4	-	5	815	c.619C>A	c.(619-621)Cgc>Agc	p.R207S		NM_014433.2	NP_055248.1	Q9UHP6	RTDR1_HUMAN		207								p.R207S(1)		breast(1)|endometrium(3)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	18	all_hematologic(9;0.0197)|Acute lymphoblastic leukemia(84;0.181)			READ - Rectum adenocarcinoma(21;0.175)		GCCTTGCTGCGGATGTTCTGG	0.622																																						uc002zwt.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(619-621)CGC>AGC		rhabdoid tumor deletion region protein 1							93.0	81.0	85.0					22																	23406114		2203	4300	6503	SO:0001583	missense	27156						binding	g.chr22:23406114G>T																												ENST00000216036.4:c.619C>A	22.37:g.23406114G>T	ENSP00000216036:p.Arg207Ser						p.R207S	NM_014433	NP_055248	Q9UHP6	RTDR1_HUMAN		READ - Rectum adenocarcinoma(21;0.175)	5	777	-	all_hematologic(9;0.0197)|Acute lymphoblastic leukemia(84;0.181)		207						Missense_Mutation	SNP	ENST00000216036.4	37	c.619C>A	CCDS13803.1	.	.	.	.	.	.	.	.	.	.	G	14.63	2.591607	0.46214	.	.	ENSG00000100218	ENST00000216036	T	0.32272	1.46	4.71	3.61	0.41365	Armadillo-like helical (1);Armadillo-type fold (1);	0.419751	0.21386	N	0.075394	T	0.56485	0.1988	M	0.87971	2.92	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.59941	-0.7359	10	0.52906	T	0.07	-26.6274	9.6082	0.39645	0.0:0.0:0.7912:0.2088	.	207	Q9UHP6	RTDR1_HUMAN	S	207	ENSP00000216036:R207S	ENSP00000216036:R207S	R	-	1	0	RTDR1	21736114	1.000000	0.71417	0.966000	0.40874	0.007000	0.05969	2.108000	0.41854	2.339000	0.79563	0.555000	0.69702	CGC		PASS	0.622	RTDR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319049.1			30	19	30	19	---	---	---	---
SGSM1	129049	broad.mit.edu	37	22	25308718	25308718	+	Splice_Site	SNP	A	A	C			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr22:25308718A>C	ENST00000400359.4	+	23	3099	c.3092A>C	c.(3091-3093)cAg>cCg	p.Q1031P	SGSM1_ENST00000400358.4_Splice_Site_p.Q976P	NM_001039948.2|NM_133454.2	NP_001035037.1|NP_597711.1	Q2NKQ1	SGSM1_HUMAN	small G protein signaling modulator 1	1031	Rab-GAP TBC. {ECO:0000255|PROSITE- ProRule:PRU00163}.					Golgi apparatus (GO:0005794)	Rab GTPase activator activity (GO:0005097)	p.Q1031P(1)|p.Q976P(1)		NS(2)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(14)|lung(10)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	41						TCGTTGATCCAGGTATGACCC	0.502																																						uc003abg.2																			2	Substitution - Missense(2)		lung(2)	ovary(2)|central_nervous_system(2)|pancreas(1)	5						c.(3091-3093)CAG>CCG		RUN and TBC1 domain containing 2 isoform 1							89.0	86.0	87.0					22																	25308718		2120	4256	6376	SO:0001630	splice_region_variant	129049					Golgi apparatus	Rab GTPase activator activity	g.chr22:25308718A>C	AB075821	CCDS46674.1, CCDS46675.1, CCDS74834.1	22q11.23	2013-07-09	2007-08-14	2007-08-14	ENSG00000167037	ENSG00000167037		"""Small G protein signaling modulators"""	29410	protein-coding gene	gene with protein product		611417	"""RUN and TBC1 domain containing 2"""	RUTBC2		11853319, 17509819, 22637480	Standard	NM_133454		Approved	KIAA1941	uc003abg.2	Q2NKQ1	OTTHUMG00000150837	ENST00000400359.4:c.3093+1A>C	22.37:g.25308718A>C						SGSM1_uc003abh.2_Missense_Mutation_p.Q970P|SGSM1_uc010guu.1_Missense_Mutation_p.Q976P|SGSM1_uc003abj.2_Missense_Mutation_p.Q915P|SGSM1_uc003abi.1_Missense_Mutation_p.Q951P	p.Q1031P	NM_001039948	NP_001035037	Q2NKQ1	SGSM1_HUMAN			23	3249	+			1031			Rab-GAP TBC.		A5LGW1|A8MUT4|B0QYW0|B0QYW1|B5MEG1|B9A6J4|Q5TFL3|Q8TF60	Missense_Mutation	SNP	ENST00000400359.4	37	c.3092A>C	CCDS46674.1	.	.	.	.	.	.	.	.	.	.	a	22.4	4.286920	0.80803	.	.	ENSG00000167037	ENST00000403206;ENST00000400358;ENST00000400359	T;T	0.25749	1.78;1.78	5.3	5.3	0.74995	Rab-GAP/TBC domain (5);	0.116222	0.64402	D	0.000009	T	0.61627	0.2362	M	0.93978	3.48	0.80722	D	1	D;D;D;D	0.89917	0.979;0.984;0.997;1.0	D;D;D;D	0.87578	0.953;0.98;0.991;0.998	T	0.72991	-0.4123	10	0.87932	D	0	-22.4494	14.7457	0.69488	1.0:0.0:0.0:0.0	.	976;1031;1048;1031	Q2NKQ1-4;C9J7S8;Q2NKQ1-3;Q2NKQ1	.;.;.;SGSM1_HUMAN	P	1031;976;1031	ENSP00000383211:Q976P;ENSP00000383212:Q1031P	ENSP00000383211:Q976P	Q	+	2	0	SGSM1	23638718	1.000000	0.71417	1.000000	0.80357	0.861000	0.49209	9.255000	0.95524	2.152000	0.67230	0.533000	0.62120	CAG		PASS	0.502	SGSM1-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000320282.1	XM_059318	Missense_Mutation	8	17	8	17	---	---	---	---
SEZ6L	23544	broad.mit.edu	37	22	26706681	26706681	+	Nonsense_Mutation	SNP	C	C	A	rs199770989	byFrequency	TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr22:26706681C>A	ENST00000248933.6	+	7	1655	c.1560C>A	c.(1558-1560)taC>taA	p.Y520*	SEZ6L_ENST00000402979.1_Nonsense_Mutation_p.Y293*|SEZ6L_ENST00000403121.1_Nonsense_Mutation_p.Y293*|SEZ6L_ENST00000404234.3_Nonsense_Mutation_p.Y520*|SEZ6L_ENST00000343706.4_Nonsense_Mutation_p.Y520*|SEZ6L_ENST00000529632.2_Nonsense_Mutation_p.Y520*|SEZ6L_ENST00000360929.3_Nonsense_Mutation_p.Y520*			Q9BYH1	SE6L1_HUMAN	seizure related 6 homolog (mouse)-like	520	CUB 2. {ECO:0000255|PROSITE- ProRule:PRU00059}.				adult locomotory behavior (GO:0008344)|cerebellar Purkinje cell layer development (GO:0021680)|regulation of protein kinase C signaling (GO:0090036)|synapse maturation (GO:0060074)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)		p.Y520*(1)		breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(35)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	80						CTCTTCTCTACGACTCCCTTC	0.597																																						uc003acb.2																			1	Substitution - Nonsense(1)		lung(1)	ovary(4)|central_nervous_system(1)|pancreas(1)	6						c.(1558-1560)TAC>TAA		seizure related 6 homolog (mouse)-like							161.0	123.0	136.0					22																	26706681		2203	4300	6503	SO:0001587	stop_gained	23544					endoplasmic reticulum membrane|integral to membrane		g.chr22:26706681C>A	AL050253	CCDS13833.1, CCDS54508.1, CCDS54510.1, CCDS54511.1, CCDS74837.1	22q12.1	2008-05-14	2001-11-28		ENSG00000100095	ENSG00000100095			10763	protein-coding gene	gene with protein product		607021	"""seizure related gene 6 (mouse)-like"""				Standard	NM_021115		Approved		uc003acb.3	Q9BYH1	OTTHUMG00000150870	ENST00000248933.6:c.1560C>A	22.37:g.26706681C>A	ENSP00000248933:p.Tyr520*					SEZ6L_uc003acc.2_Nonsense_Mutation_p.Y520*|SEZ6L_uc011akc.1_Nonsense_Mutation_p.Y520*|SEZ6L_uc003acd.2_Nonsense_Mutation_p.Y520*|SEZ6L_uc011akd.1_Nonsense_Mutation_p.Y520*|SEZ6L_uc003ace.2_Nonsense_Mutation_p.Y520*|SEZ6L_uc003acf.1_Nonsense_Mutation_p.Y293*|SEZ6L_uc010gvc.1_Nonsense_Mutation_p.Y293*	p.Y520*	NM_021115	NP_066938	Q9BYH1	SE6L1_HUMAN			7	1716	+			520			CUB 2.|Extracellular (Potential).		A0AUW7|B0QYG4|B0QYG5|B7ZLJ6|G8JLP3|O95917|Q5THY5|Q6IBZ4|Q6UXD4|Q9NUI3|Q9NUI4|Q9NUI5|Q9Y2E1|Q9Y3J6	Nonsense_Mutation	SNP	ENST00000248933.6	37	c.1560C>A	CCDS13833.1	.	.	.	.	.	.	.	.	.	.	C	35	5.447060	0.96205	.	.	ENSG00000100095	ENST00000404234;ENST00000529632;ENST00000360929;ENST00000248933;ENST00000343706;ENST00000403121;ENST00000402979	.	.	.	5.04	-4.03	0.04021	.	0.125894	0.35805	N	0.002978	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	11.3239	0.49438	0.0:0.4062:0.0:0.5938	.	.	.	.	X	520;520;520;520;520;293;293	.	ENSP00000248933:Y520X	Y	+	3	2	SEZ6L	25036681	0.000000	0.05858	0.893000	0.35052	0.115000	0.19883	-1.874000	0.01636	-0.881000	0.03992	-0.997000	0.02515	TAC		PASS	0.597	SEZ6L-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000320359.3			87	72	87	72	---	---	---	---
NF2	4771	broad.mit.edu	37	22	30070892	30070892	+	Nonsense_Mutation	SNP	C	C	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr22:30070892C>T	ENST00000338641.4	+	13	1849	c.1408C>T	c.(1408-1410)Cag>Tag	p.Q470*	NF2_ENST00000361166.4_Nonsense_Mutation_p.Q470*|NF2_ENST00000413209.2_Intron|NF2_ENST00000361452.4_Nonsense_Mutation_p.Q429*|NF2_ENST00000397789.3_Nonsense_Mutation_p.Q470*|NF2_ENST00000353887.4_Nonsense_Mutation_p.Q387*|NF2_ENST00000403435.1_Nonsense_Mutation_p.Q441*|NF2_ENST00000403999.3_Nonsense_Mutation_p.Q470*|NF2_ENST00000347330.5_Missense_Mutation_p.A197V|NF2_ENST00000334961.7_Nonsense_Mutation_p.Q387*|NF2_ENST00000361676.4_Nonsense_Mutation_p.Q428*	NM_000268.3|NM_016418.5|NM_181832.2	NP_000259.1|NP_057502.2|NP_861970.1	P35240	MERL_HUMAN	neurofibromin 2 (merlin)	470					actin cytoskeleton organization (GO:0030036)|cell-cell junction organization (GO:0045216)|ectoderm development (GO:0007398)|hippocampus development (GO:0021766)|lens fiber cell differentiation (GO:0070306)|mesoderm formation (GO:0001707)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of DNA replication (GO:0008156)|negative regulation of JAK-STAT cascade (GO:0046426)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of tyrosine phosphorylation of Stat3 protein (GO:0042518)|negative regulation of tyrosine phosphorylation of Stat5 protein (GO:0042524)|odontogenesis of dentin-containing tooth (GO:0042475)|positive regulation of cell differentiation (GO:0045597)|positive regulation of stress fiber assembly (GO:0051496)|regulation of hippo signaling (GO:0035330)|regulation of neural precursor cell proliferation (GO:2000177)|regulation of protein localization to nucleus (GO:1900180)|regulation of protein stability (GO:0031647)|Schwann cell proliferation (GO:0014010)	adherens junction (GO:0005912)|apical part of cell (GO:0045177)|cleavage furrow (GO:0032154)|cortical actin cytoskeleton (GO:0030864)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|early endosome (GO:0005769)|extrinsic component of membrane (GO:0019898)|filopodium (GO:0030175)|lamellipodium (GO:0030027)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|ruffle (GO:0001726)		p.?(4)|p.Q470*(3)|p.K469fs*22(1)|p.Q459fs*25(1)|p.Q470fs*15(1)|p.A464fs*24(1)		NS(1)|bone(2)|breast(5)|central_nervous_system(21)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(17)|large_intestine(9)|liver(1)|lung(9)|meninges(372)|ovary(2)|pituitary(1)|pleura(9)|prostate(1)|skin(7)|soft_tissue(303)|stomach(2)|thyroid(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	776						AAGAGCCAAGCAGAAGCTCCT	0.607			"""D, Mis, N, F, S, O"""		"""meningioma, acoustic neuroma, renal """	"""meningioma, acoustic neuroma"""			Neurofibromatosis, type 2																													uc003age.3			yes	Rec	yes	Neurofibromatosis type 2	22	22q12.2	4771	D|Mis|N|F|S|O	neurofibromatosis type 2 gene			O		meningioma|acoustic neuroma	meningioma|acoustic neuroma|renal 		11	Unknown(4)|Substitution - Nonsense(3)|Deletion - Frameshift(3)|Complex - frameshift(1)	p.?(2)|p.Q470L(1)|p.Q459fs*25(1)|p.Q470*(1)|p.Q470fs*15(1)|p.A464fs*24(1)	soft_tissue(3)|meninges(2)|lung(2)|large_intestine(1)|central_nervous_system(1)|stomach(1)|kidney(1)	meninges(372)|soft_tissue(284)|central_nervous_system(20)|kidney(10)|pleura(9)|skin(7)|large_intestine(5)|breast(5)|urinary_tract(3)|thyroid(2)|endometrium(2)|ovary(2)|lung(2)|stomach(2)|bone(2)|pituitary(1)	728	GRCh37	CM950858	NF2	M		c.(1408-1410)CAG>TAG		neurofibromin 2 isoform 1							35.0	32.0	33.0					22																	30070892		2187	4275	6462	SO:0001587	stop_gained	4771	Neurofibromatosis_type_2	Familial Cancer Database	NF2, Central Neurofibromatosis, Bilateral Acoustic Neurofibromatosis	actin cytoskeleton organization|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of cell-cell adhesion|negative regulation of cell-matrix adhesion|negative regulation of DNA replication|negative regulation of tyrosine phosphorylation of Stat3 protein|negative regulation of tyrosine phosphorylation of Stat5 protein|positive regulation of stress fiber assembly|regulation of hippo signaling cascade|Schwann cell proliferation	cytoskeleton|early endosome|extrinsic to membrane|filopodium membrane|nucleolus|perinuclear region of cytoplasm|ruffle membrane	cytoskeletal protein binding|protein binding	g.chr22:30070892C>T	L11353	CCDS13861.1, CCDS13862.1, CCDS13863.1, CCDS13864.1, CCDS13865.1, CCDS54516.1	22q12.2	2014-09-17	2007-12-17		ENSG00000186575	ENSG00000186575		"""A-kinase anchor proteins"""	7773	protein-coding gene	gene with protein product	"""moesin-ezrin-radixin like"", ""schwannomin"""	607379	"""neurofibromin 2 (bilateral acoustic neuroma)"""			10591208	Standard	NM_000268		Approved	merlin	uc003age.4	P35240	OTTHUMG00000030727	ENST00000338641.4:c.1408C>T	22.37:g.30070892C>T	ENSP00000344666:p.Gln470*					NF2_uc003afy.3_Nonsense_Mutation_p.Q470*|NF2_uc003afz.3_Nonsense_Mutation_p.Q387*|NF2_uc003agf.3_Nonsense_Mutation_p.Q470*|NF2_uc003agb.3_Nonsense_Mutation_p.Q393*|NF2_uc003agc.3_Nonsense_Mutation_p.Q432*|NF2_uc003agd.3_RNA|NF2_uc003agg.3_Nonsense_Mutation_p.Q470*|NF2_uc003aga.3_Nonsense_Mutation_p.Q428*|NF2_uc003agh.3_Nonsense_Mutation_p.Q429*|NF2_uc003agi.3_Nonsense_Mutation_p.Q387*|NF2_uc003agj.3_Intron|NF2_uc003agk.3_Nonsense_Mutation_p.Q432*|NF2_uc010gvp.2_Nonsense_Mutation_p.Q134*|NF2_uc011akq.1_Nonsense_Mutation_p.Q96*	p.Q470*	NM_000268	NP_000259	P35240	MERL_HUMAN			13	1851	+			470					O95683|Q8WUJ2|Q969N0|Q969Q3|Q96T30|Q96T31|Q96T32|Q96T33|Q9BTW3|Q9UNG9|Q9UNH3|Q9UNH4	Nonsense_Mutation	SNP	ENST00000338641.4	37	c.1408C>T	CCDS13861.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	39|39	7.399753|7.399753	0.98258|0.98258	.|.	.|.	ENSG00000186575|ENSG00000186575	ENST00000347330|ENST00000338641;ENST00000403435;ENST00000361452;ENST00000397822;ENST00000403999;ENST00000334961;ENST00000353887;ENST00000397789;ENST00000361676;ENST00000361166	D|.	0.94046|.	-3.34|.	5.6|5.6	4.57|4.57	0.56435|0.56435	.|.	.|0.411928	.|0.28772	.|N	.|0.014193	T|.	0.51210|.	0.1661|.	.|.	.|.	.|.	0.26357|0.26357	N|N	0.977114|0.977114	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.46105|.	-0.9215|.	5|.	.|.	.|.	.|.	.|.	15.8569|15.8569	0.78987|0.78987	0.1368:0.8632:0.0:0.0|0.1368:0.8632:0.0:0.0	.|.	.|.	.|.	.|.	V|X	197|470;441;429;445;470;387;387;470;428;470	ENSP00000335160:A197V|.	.|.	A|Q	+|+	2|1	0|0	NF2|NF2	28400892|28400892	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.614000|0.614000	0.37383|0.37383	4.837000|4.837000	0.62796|0.62796	1.344000|1.344000	0.45657|0.45657	-0.182000|-0.182000	0.12963|0.12963	GCA|CAG		PASS	0.607	NF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075615.3	NM_000268		4	5	4	5	---	---	---	---
OSM	5008	broad.mit.edu	37	22	30659938	30659938	+	Silent	SNP	C	C	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr22:30659938C>A	ENST00000215781.2	-	3	733	c.693G>T	c.(691-693)ggG>ggT	p.G231G	OSM_ENST00000403389.1_Silent_p.G210G	NM_020530.4	NP_065391.1	P13725	ONCM_HUMAN	oncostatin M	231					behavioral response to pain (GO:0048266)|cell proliferation (GO:0008283)|immune response (GO:0006955)|multicellular organismal development (GO:0007275)|negative regulation of cell proliferation (GO:0008285)|negative regulation of hormone secretion (GO:0046888)|negative regulation of meiosis (GO:0045835)|peripheral nervous system development (GO:0007422)|positive regulation of acute inflammatory response (GO:0002675)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell division (GO:0051781)|positive regulation of cell proliferation (GO:0008284)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of growth (GO:0040008)|response to heat (GO:0009408)|tyrosine phosphorylation of Stat1 protein (GO:0042508)|tyrosine phosphorylation of Stat3 protein (GO:0042503)|tyrosine phosphorylation of Stat5 protein (GO:0042506)	extracellular space (GO:0005615)|oncostatin-M receptor complex (GO:0005900)	cytokine activity (GO:0005125)|growth factor activity (GO:0008083)|oncostatin-M receptor binding (GO:0005147)	p.G231G(1)		breast(1)|endometrium(2)|large_intestine(2)|lung(3)|skin(3)	11			Epithelial(10;0.206)			TCCTGCGCACCCCCTTCCTCA	0.662																																						uc003ahb.2																			1	Substitution - coding silent(1)		lung(1)	skin(1)	1						c.(691-693)GGG>GGT		oncostatin M precursor							84.0	87.0	86.0					22																	30659938		2203	4300	6503	SO:0001819	synonymous_variant	5008				cell proliferation|immune response|negative regulation of cell proliferation|negative regulation of hormone secretion|positive regulation of cell division|positive regulation of cell proliferation|positive regulation of MAPKKK cascade|positive regulation of peptidyl-serine phosphorylation|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of transcription from RNA polymerase II promoter|regulation of growth	extracellular space|oncostatin-M receptor complex	cytokine activity|growth factor activity|oncostatin-M receptor binding	g.chr22:30659938C>A	AF129855	CCDS13873.1	22q12.2	2011-07-21			ENSG00000099985	ENSG00000099985			8506	protein-coding gene	gene with protein product		165095				1717982	Standard	NM_020530		Approved	MGC20461	uc003ahb.3	P13725	OTTHUMG00000150913	ENST00000215781.2:c.693G>T	22.37:g.30659938C>A							p.G231G	NM_020530	NP_065391	P13725	ONCM_HUMAN	Epithelial(10;0.206)		3	745	-			231					Q6FHP8|Q9UCP6	Silent	SNP	ENST00000215781.2	37	c.693G>T	CCDS13873.1																																																																																				PASS	0.662	OSM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320512.1	NM_020530		95	63	95	63	---	---	---	---
PATZ1	23598	broad.mit.edu	37	22	31724897	31724897	+	Silent	SNP	G	G	C			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr22:31724897G>C	ENST00000266269.5	-	4	2150	c.1521C>G	c.(1519-1521)gcC>gcG	p.A507A	RP3-400N23.6_ENST00000440456.1_RNA|PATZ1_ENST00000405309.3_Intron|PATZ1_ENST00000351933.4_Intron	NM_014323.2	NP_055138.2	Q9HBE1	PATZ1_HUMAN	POZ (BTB) and AT hook containing zinc finger 1	507					male gonad development (GO:0008584)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|spermatogenesis (GO:0007283)|T cell differentiation (GO:0030217)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.A507A(1)	EWSR1/PATZ1(2)	NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|skin(2)	12						TTAAGTAGGAGGCAGAGGAGA	0.567																																						uc003akq.2																		EWSR1/PATZ1(2)	1	Substitution - coding silent(1)		lung(1)	soft_tissue(2)	2						c.(1519-1521)GCC>GCG		POZ (BTB) and AT hook containing zinc finger 1							77.0	69.0	72.0					22																	31724897		2203	4300	6503	SO:0001819	synonymous_variant	23598				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr22:31724897G>C	AL096880	CCDS13894.1, CCDS13895.1, CCDS13896.1, CCDS46691.1	22q12.2	2013-01-09	2006-09-19	2006-09-19	ENSG00000100105	ENSG00000100105		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	13071	protein-coding gene	gene with protein product		605165	"""zinc finger protein 278"""	ZNF278		10591208, 18241078, 18401526	Standard	NM_014323		Approved	MAZR, dJ400N23, ZBTB19, ZSG, RIAZ, PATZ	uc003akq.3	Q9HBE1	OTTHUMG00000151254	ENST00000266269.5:c.1521C>G	22.37:g.31724897G>C						PATZ1_uc003akp.2_Intron|PATZ1_uc003akr.2_Intron	p.A507A	NM_014323	NP_055138	Q9HBE1	PATZ1_HUMAN			4	2182	-			507			C2H2-type 6.		Q9HBE2|Q9HBE3|Q9P1A9|Q9UDU0|Q9Y529	Silent	SNP	ENST00000266269.5	37	c.1521C>G	CCDS13894.1																																																																																				PASS	0.567	PATZ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321932.1	NM_032052		12	31	12	31	---	---	---	---
C22orf42	150297	broad.mit.edu	37	22	32555175	32555175	+	Missense_Mutation	SNP	C	C	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr22:32555175C>A	ENST00000382097.3	-	1	100	c.28G>T	c.(28-30)Ggc>Tgc	p.G10C	RP1-90G24.8_ENST00000426354.1_lincRNA	NM_001010859.1	NP_001010859.1	Q6IC83	CV042_HUMAN	chromosome 22 open reading frame 42	10								p.G10C(1)		NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(2)	24						CCGCTGGGGCCCAGGCAGCAA	0.572																																						uc003amd.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(28-30)GGC>TGC		chromosome 22 open reading frame 42							45.0	46.0	46.0					22																	32555175		2203	4300	6503	SO:0001583	missense	150297							g.chr22:32555175C>A	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.28G>T	22.37:g.32555175C>A	ENSP00000371529:p.Gly10Cys						p.G10C	NM_001010859	NP_001010859	Q6IC83	CV042_HUMAN			1	69	-			10					A4QPH5	Missense_Mutation	SNP	ENST00000382097.3	37	c.28G>T	CCDS33639.1	.	.	.	.	.	.	.	.	.	.	C	3.288	-0.145472	0.06627	.	.	ENSG00000205856	ENST00000382097	T	0.26810	1.71	.	.	.	.	.	.	.	.	T	0.24547	0.0595	N	0.08118	0	0.09310	N	1	D	0.76494	0.999	D	0.74674	0.984	T	0.17745	-1.0359	7	0.49607	T	0.09	.	.	.	.	.	10	Q6IC83	CV042_HUMAN	C	10	ENSP00000371529:G10C	ENSP00000371529:G10C	G	-	1	0	C22orf42	30885175	0.003000	0.15002	0.200000	0.23457	0.202000	0.24057	0.145000	0.16157	0.064000	0.16427	0.064000	0.15345	GGC		PASS	0.572	C22orf42-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075268.2	NM_001010859		38	46	38	46	---	---	---	---
LGALS2	3957	broad.mit.edu	37	22	37966599	37966599	+	Missense_Mutation	SNP	G	G	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr22:37966599G>T	ENST00000215886.4	-	3	407	c.233C>A	c.(232-234)cCa>cAa	p.P78Q		NM_006498.2	NP_006489.1	P05162	LEG2_HUMAN	lectin, galactoside-binding, soluble, 2	78	Galectin. {ECO:0000255|PROSITE- ProRule:PRU00639}.						carbohydrate binding (GO:0030246)|galactoside binding (GO:0016936)	p.P78Q(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|skin(1)|stomach(1)	11	Melanoma(58;0.0574)					CTCTGACCCTGGGCTGAAGCA	0.577																																					GBM(193;1840 2185 13711 20676 24505)	uc003ata.2																			1	Substitution - Missense(1)		lung(1)	breast(1)|skin(1)	2						c.(232-234)CCA>CAA		lectin, galactoside-binding, soluble, 2							196.0	169.0	178.0					22																	37966599		2203	4300	6503	SO:0001583	missense	3957							g.chr22:37966599G>T		CCDS13950.1	22q13.1	2011-08-04	2007-02-01		ENSG00000100079	ENSG00000100079		"""Lectins, galactoside-binding"""	6562	protein-coding gene	gene with protein product	"""galectin 2"""	150571				1988031, 15356130	Standard	NM_006498		Approved	HL14	uc003ata.3	P05162	OTTHUMG00000150590	ENST00000215886.4:c.233C>A	22.37:g.37966599G>T	ENSP00000215886:p.Pro78Gln						p.P78Q	NM_006498	NP_006489	P05162	LEG2_HUMAN			3	345	-	Melanoma(58;0.0574)		78			Galectin.		Q6FGY4	Missense_Mutation	SNP	ENST00000215886.4	37	c.233C>A	CCDS13950.1	.	.	.	.	.	.	.	.	.	.	G	12.13	1.844477	0.32606	.	.	ENSG00000100079	ENST00000215886	T	0.05513	3.43	5.97	1.28	0.21552	Concanavalin A-like lectin/glucanase (1);Galectin, carbohydrate recognition domain (4);Concanavalin A-like lectin/glucanase, subgroup (1);	0.515999	0.23817	N	0.044270	T	0.04770	0.0129	L	0.43757	1.38	0.09310	N	1	B	0.32968	0.392	B	0.28465	0.09	T	0.36529	-0.9744	10	0.35671	T	0.21	0.0012	4.7687	0.13144	0.065:0.2209:0.3739:0.3402	.	78	P05162	LEG2_HUMAN	Q	78	ENSP00000215886:P78Q	ENSP00000215886:P78Q	P	-	2	0	LGALS2	36296545	0.000000	0.05858	0.029000	0.17559	0.989000	0.77384	-0.306000	0.08178	0.070000	0.16634	0.655000	0.94253	CCA		PASS	0.577	LGALS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318991.1	NM_006498		96	88	96	88	---	---	---	---
CYP2D6	1565	broad.mit.edu	37	22	42526796	42526796	+	De_novo_Start_OutOfFrame	SNP	C	C	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr22:42526796C>A	ENST00000360608.5	-	0	112				NDUFA6-AS1_ENST00000439129.1_RNA|CYP2D6_ENST00000389970.3_De_novo_Start_OutOfFrame|NDUFA6-AS1_ENST00000416037.2_RNA|NDUFA6-AS1_ENST00000608491.1_RNA|CYP2D6_ENST00000359033.4_De_novo_Start_OutOfFrame|NDUFA6-AS1_ENST00000608288.1_RNA	NM_000106.5	NP_000097	P10635	CP2D6_HUMAN	cytochrome P450, family 2, subfamily D, polypeptide 6						alkaloid catabolic process (GO:0009822)|alkaloid metabolic process (GO:0009820)|coumarin metabolic process (GO:0009804)|drug catabolic process (GO:0042737)|drug metabolic process (GO:0017144)|heterocycle metabolic process (GO:0046483)|isoquinoline alkaloid metabolic process (GO:0033076)|monoterpenoid metabolic process (GO:0016098)|negative regulation of binding (GO:0051100)|negative regulation of cellular organofluorine metabolic process (GO:0090350)|oxidation-reduction process (GO:0055114)|oxidative demethylation (GO:0070989)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|mitochondrion (GO:0005739)	aromatase activity (GO:0070330)|drug binding (GO:0008144)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity (GO:0016491)			NS(1)|breast(2)|endometrium(1)|large_intestine(2)|lung(4)|prostate(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21					Abiraterone(DB05812)|Acebutolol(DB01193)|Acetaminophen(DB00316)|Ajmaline(DB01426)|Almotriptan(DB00918)|Alogliptin(DB06203)|Alprenolol(DB00866)|Aminophenazone(DB01424)|Amiodarone(DB01118)|Amitriptyline(DB00321)|Amlodipine(DB00381)|Amodiaquine(DB00613)|Amoxapine(DB00543)|Amphetamine(DB00182)|Amprenavir(DB00701)|Amsacrine(DB00276)|Antipyrine(DB01435)|Aprindine(DB01429)|Arformoterol(DB01274)|Aripiprazole(DB01238)|Artemether(DB06697)|Asenapine(DB06216)|Astemizole(DB00637)|Atomoxetine(DB00289)|Atorvastatin(DB01076)|Azelastine(DB00972)|Benzatropine(DB00245)|Benzyl alcohol(DB06770)|Bepridil(DB01244)|Betaxolol(DB00195)|Bicalutamide(DB01128)|Biperiden(DB00810)|Bisoprolol(DB00612)|Bortezomib(DB00188)|Brompheniramine(DB00835)|Bupivacaine(DB00297)|Buprenorphine(DB00921)|Bupropion(DB01156)|Buspirone(DB00490)|Caffeine(DB00201)|Captopril(DB01197)|Carbinoxamine(DB00748)|Carteolol(DB00521)|Carvedilol(DB01136)|Celecoxib(DB00482)|Cephalexin(DB00567)|Cevimeline(DB00185)|Chlordiazepoxide(DB00475)|Chloroquine(DB00608)|Chlorphenamine(DB01114)|Chlorpromazine(DB00477)|Chlorzoxazone(DB00356)|Cholecalciferol(DB00169)|Ciclesonide(DB01410)|Cilostazol(DB01166)|Cimetidine(DB00501)|Cinacalcet(DB01012)|Cinnarizine(DB00568)|Cisapride(DB00604)|Citalopram(DB00215)|Clemastine(DB00283)|Clevidipine(DB04920)|Clomipramine(DB01242)|Clonidine(DB00575)|Clotrimazole(DB00257)|Clozapine(DB00363)|Cocaine(DB00907)|Codeine(DB00318)|Cyclobenzaprine(DB00924)|Cyclophosphamide(DB00531)|Cyclosporine(DB00091)|Dapagliflozin(DB06292)|Darifenacin(DB00496)|Debrisoquin(DB04840)|Delavirdine(DB00705)|Desipramine(DB01151)|Desloratadine(DB00967)|Dexamethasone(DB01234)|Dexfenfluramine(DB01191)|Dexmedetomidine(DB00633)|Dexmethylphenidate(DB06701)|Dextroamphetamine(DB01576)|Dextromethorphan(DB00514)|Dextropropoxyphene(DB00647)|Dihydrocodeine(DB01551)|Diltiazem(DB00343)|Dimethyl sulfoxide(DB01093)|Diphenhydramine(DB01075)|Dolasetron(DB00757)|Domperidone(DB01184)|Donepezil(DB00843)|Dopamine(DB00988)|Doxazosin(DB00590)|Doxepin(DB01142)|Doxorubicin(DB00997)|Dronedarone(DB04855)|Duloxetine(DB00476)|Efavirenz(DB00625)|Eletriptan(DB00216)|Encainide(DB01228)|Enzalutamide(DB08899)|Epinastine(DB00751)|Erlotinib(DB00530)|Escitalopram(DB01175)|Ethylmorphine(DB01466)|Etoricoxib(DB01628)|Felodipine(DB01023)|Fesoterodine(DB06702)|Fexofenadine(DB00950)|Fingolimod(DB08868)|Flecainide(DB01195)|Flunarizine(DB04841)|Fluoxetine(DB00472)|Fluphenazine(DB00623)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Galantamine(DB00674)|Gefitinib(DB00317)|Glutethimide(DB01437)|Granisetron(DB00889)|Halofantrine(DB01218)|Haloperidol(DB00502)|Halothane(DB01159)|Histamine Phosphate(DB00667)|Hydrocodone(DB00956)|Hydromorphone(DB00327)|Hydroxychloroquine(DB01611)|Hydroxyurea(DB01005)|Hydroxyzine(DB00557)|Idarubicin(DB01177)|Iloperidone(DB04946)|Imatinib(DB00619)|Imipramine(DB00458)|Indinavir(DB00224)|Ipratropium bromide(DB00332)|Irbesartan(DB01029)|Isoniazid(DB00951)|Itraconazole(DB01167)|Ketoconazole(DB01026)|L-DOPA(DB01235)|Labetalol(DB00598)|Lansoprazole(DB00448)|Lercanidipine(DB00528)|Levomilnacipran(DB08918)|Lidocaine(DB00281)|Lisuride(DB00589)|Lomustine(DB01206)|Loperamide(DB00836)|Lopinavir(DB01601)|Loratadine(DB00455)|Lorcaserin(DB04871)|Lovastatin(DB00227)|Lumefantrine(DB06708)|Maprotiline(DB00934)|Mefloquine(DB00358)|Mepyramine(DB06691)|Mequitazine(DB01071)|Mesoridazine(DB00933)|Methadone(DB00333)|Methamphetamine(DB01577)|Methazolamide(DB00703)|Methimazole(DB00763)|Methotrimeprazine(DB01403)|Methoxyflurane(DB01028)|Methylnaltrexone(DB06800)|Methylphenidate(DB00422)|Methyprylon(DB01107)|Metoclopramide(DB01233)|Metoprolol(DB00264)|Mexiletine(DB00379)|Mianserin(DB06148)|Miconazole(DB01110)|Midodrine(DB00211)|Mifepristone(DB00834)|Minaprine(DB00805)|Mirabegron(DB08893)|Mirtazapine(DB00370)|Moclobemide(DB01171)|Morphine(DB00295)|Nateglinide(DB00731)|Nebivolol(DB04861)|Nefazodone(DB01149)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Niacin(DB00627)|Nicardipine(DB00622)|Nicergoline(DB00699)|Nicotine(DB00184)|Nifedipine(DB01115)|Nilotinib(DB04868)|Nitrofural(DB00336)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Omeprazole(DB00338)|Ondansetron(DB00904)|Oxamniquine(DB01096)|Oxprenolol(DB01580)|Oxybutynin(DB01062)|Oxycodone(DB00497)|Oxymorphone(DB01192)|Paliperidone(DB01267)|Palonosetron(DB00377)|Paroxetine(DB00715)|Pazopanib(DB06589)|Pentamidine(DB00738)|Pergolide(DB01186)|Perhexiline(DB01074)|Perphenazine(DB00850)|Pethidine(DB00454)|Phenformin(DB00914)|Phentermine(DB00191)|Pimozide(DB01100)|Pindolol(DB00960)|Pioglitazone(DB01132)|Piperazine(DB00592)|Pipotiazine(DB01621)|Ponatinib(DB08901)|Pravastatin(DB00175)|Praziquantel(DB01058)|Primaquine(DB01087)|Procainamide(DB01035)|Prochlorperazine(DB00433)|Progesterone(DB00396)|Proguanil(DB01131)|Promethazine(DB01069)|Propafenone(DB01182)|Propofol(DB00818)|Propranolol(DB00571)|Protriptyline(DB00344)|Pseudoephedrine(DB00852)|Pyrimethamine(DB00205)|Quetiapine(DB01224)|Quinidine(DB00908)|Quinine(DB00468)|Rabeprazole(DB01129)|Ranitidine(DB00863)|Ranolazine(DB00243)|Reboxetine(DB00234)|Remoxipride(DB00409)|Rifapentine(DB01201)|Risperidone(DB00734)|Ritonavir(DB00503)|Rivastigmine(DB00989)|Ropinirole(DB00268)|Ropivacaine(DB00296)|Rosiglitazone(DB00412)|Rotigotine(DB05271)|Saquinavir(DB01232)|Selegiline(DB01037)|Sertindole(DB06144)|Sertraline(DB01104)|Sildenafil(DB00203)|Simvastatin(DB00641)|Sorafenib(DB00398)|Sulfanilamide(DB00259)|Sulfaphenazole(DB06729)|Tamoxifen(DB00675)|Tamsulosin(DB00706)|Tapentadol(DB06204)|Telithromycin(DB00976)|Temsirolimus(DB06287)|Terbinafine(DB00857)|Tetrabenazine(DB04844)|Theophylline(DB00277)|Thioridazine(DB00679)|Thiothixene(DB01623)|Ticlopidine(DB00208)|Timolol(DB00373)|Tiotropium(DB01409)|Tipranavir(DB00932)|Tolterodine(DB01036)|Trabectedin(DB05109)|Tramadol(DB00193)|Tranylcypromine(DB00752)|Trazodone(DB00656)|Trimipramine(DB00726)|Tripelennamine(DB00792)|Triprolidine(DB00427)|Trospium(DB00209)|Vemurafenib(DB08881)|Venlafaxine(DB00285)|Verapamil(DB00661)|Vilazodone(DB06684)|Vinblastine(DB00570)|Vinorelbine(DB00361)|Yohimbine(DB01392)|Zafirlukast(DB00549)|Zalcitabine(DB00943)|Ziprasidone(DB00246)|Zolpidem(DB00425)	AGCCCCATACCTGCCTCACTA	0.642																																						uc003bce.2																			0				breast(1)|skin(1)	2						c.(-4-0)CAGGT>CATGT		cytochrome P450, family 2, subfamily D,							31.0	32.0	32.0					22																	42526796		2179	4276	6455			1565						electron carrier activity|heme binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen	g.chr22:42526796C>A	M20403	CCDS33657.1, CCDS46721.1	22q13.1	2014-09-17	2003-01-14		ENSG00000100197	ENSG00000100197		"""Cytochrome P450s"""	2625	protein-coding gene	gene with protein product		124030	"""cytochrome P450, subfamily IID (debrisoquine, sparteine, etc., -metabolizing), polypeptide 6"", ""cytochrome P450, family 2, subfamily D, polypeptide 7 pseudogene 2"", ""cytochrome P450, subfamily II (debrisoquine, sparteine, etc., -metabolising), polypeptide 7 pseudogene 2"", ""cytochrome P450, family 2, subfamily D, polypeptide 8 pseudogene 2"", ""cytochrome P450, subfamily IID (debrisoquine, sparteine, etc., -metabolising), polypeptide 8 pseudogene 2"""	CYP2DL1, CYP2D7P2, CYP2D7BP, CYP2D8P2, CYP2D7AP		8449513	Standard	NM_000106		Approved	CPD6, P450-DB1, CYP2D, P450C2D	uc003bce.3	P10635	OTTHUMG00000150918	ENST00000360608.5:c.-3G>T	22.37:g.42526796C>A						uc003bcd.1_Intron|CYP2D6_uc010gyu.2_5'Flank|CYP2D6_uc003bcf.2_Translation_Start_Site		NM_000106	NP_000097	Q6NWU0	Q6NWU0_HUMAN			1	88	-								Q16752|Q2XND6|Q2XND7|Q2XNE0|Q6B012|Q6NXU8	Translation_Start_Site	SNP	ENST00000360608.5	37	c.-2G>T	CCDS46721.1																																																																																				PASS	0.642	CYP2D6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000320525.1			2	5	2	5	---	---	---	---
ATXN10	25814	broad.mit.edu	37	22	46085626	46085626	+	Missense_Mutation	SNP	C	C	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr22:46085626C>A	ENST00000252934.5	+	2	416	c.151C>A	c.(151-153)Ctg>Atg	p.L51M	ATXN10_ENST00000381061.4_Intron|ATXN10_ENST00000498009.1_3'UTR	NM_013236.3	NP_037368.1	Q9UBB4	ATX10_HUMAN	ataxin 10	51					cell death (GO:0008219)|nervous system development (GO:0007399)|neuron projection development (GO:0031175)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|extracellular space (GO:0005615)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)		p.L51M(1)		central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|skin(1)	10		Ovarian(80;0.00973)|all_neural(38;0.0417)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0223)		CCAAAGAGTTCTGGATATCCT	0.388																																						uc003bgm.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|kidney(1)	2						c.(151-153)CTG>ATG		ataxin 10							88.0	85.0	86.0					22																	46085626		2203	4300	6503	SO:0001583	missense	25814				cell death|neuron projection development	dendrite|neuronal cell body|perinuclear region of cytoplasm		g.chr22:46085626C>A	AK095309	CCDS14070.1, CCDS54540.1	22q13	2013-02-15	2004-08-12	2004-08-12	ENSG00000130638	ENSG00000130638		"""Ataxins"""	10549	protein-coding gene	gene with protein product		611150	"""spinocerebellar ataxia 10"""	SCA10		9973298	Standard	NM_013236		Approved	E46L, FLJ37990	uc003bgm.2	Q9UBB4	OTTHUMG00000150451	ENST00000252934.5:c.151C>A	22.37:g.46085626C>A	ENSP00000252934:p.Leu51Met					ATXN10_uc011aqt.1_Intron|ATXN10_uc003bgn.1_Translation_Start_Site	p.L51M	NM_013236	NP_037368	Q9UBB4	ATX10_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (28;0.0223)	2	408	+		Ovarian(80;0.00973)|all_neural(38;0.0417)	51					A6NLC4|B4DG05|O14998|O15009|Q6I9X4	Missense_Mutation	SNP	ENST00000252934.5	37	c.151C>A	CCDS14070.1	.	.	.	.	.	.	.	.	.	.	C	12.10	1.837740	0.32513	.	.	ENSG00000130638	ENST00000252934;ENST00000396011	T	0.55760	0.5	5.48	2.11	0.27256	Armadillo-like helical (1);Armadillo-type fold (1);	0.478569	0.20944	N	0.082873	T	0.28665	0.0710	N	0.14661	0.345	0.80722	D	1	P	0.35844	0.524	B	0.31946	0.138	T	0.05386	-1.0888	10	0.45353	T	0.12	0.1893	5.7501	0.18142	0.1547:0.6803:0.0:0.1651	.	51	Q9UBB4	ATX10_HUMAN	M	51	ENSP00000252934:L51M	ENSP00000252934:L51M	L	+	1	2	ATXN10	44464290	0.544000	0.26441	1.000000	0.80357	0.758000	0.43043	-0.034000	0.12225	0.680000	0.31366	0.591000	0.81541	CTG		PASS	0.388	ATXN10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318142.2	NM_013236		63	45	63	45	---	---	---	---
GTSE1	51512	broad.mit.edu	37	22	46704301	46704301	+	Missense_Mutation	SNP	G	G	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr22:46704301G>A	ENST00000454366.1	+	4	435	c.223G>A	c.(223-225)Gtt>Att	p.V75I		NM_016426.6	NP_057510	Q9NYZ3	GTSE1_HUMAN	G-2 and S-phase expressed 1	56					DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|microtubule-based process (GO:0007017)	cytoplasmic microtubule (GO:0005881)|membrane (GO:0016020)		p.V56I(1)|p.V75I(1)		NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(3)	27		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00462)		AAATAATCCGGTTCCCGAACA	0.463																																					GBM(153;542 1915 12487 29016 50495)	uc011aqy.1																			2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(223-225)GTT>ATT		G-2 and S-phase expressed 1							105.0	114.0	111.0					22																	46704301		2203	4300	6503	SO:0001583	missense	51512				DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G2 phase of mitotic cell cycle|microtubule-based process	cytoplasmic microtubule		g.chr22:46704301G>A	AF223408	CCDS14074.2	22q13.2-q13.3	2008-06-10			ENSG00000075218	ENSG00000075218			13698	protein-coding gene	gene with protein product		607477				10974554, 10984615, 12750368	Standard	NM_016426		Approved	GTSE-1, B99	uc011aqy.2	Q9NYZ3	OTTHUMG00000150486	ENST00000454366.1:c.223G>A	22.37:g.46704301G>A	ENSP00000415430:p.Val75Ile					GTSE1_uc011aqz.1_5'UTR	p.V75I	NM_016426	NP_057510	Q9NYZ3	GTSE1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (28;0.00462)	4	435	+		Ovarian(80;0.00965)|all_neural(38;0.0416)	56					B0QYM3|Q20WK2|Q53GX5|Q5R3I6|Q6DHX4|Q9BRE0|Q9UGZ9|Q9Y557	Missense_Mutation	SNP	ENST00000454366.1	37	c.223G>A	CCDS14074.2	.	.	.	.	.	.	.	.	.	.	G	0.154	-1.088728	0.01873	.	.	ENSG00000075218	ENST00000454366;ENST00000361934	T	0.06687	3.27	5.3	-10.6	0.00265	.	2.174550	0.01281	N	0.009740	T	0.01976	0.0062	N	0.00742	-1.23	0.09310	N	1	B	0.06786	0.001	B	0.08055	0.003	T	0.30031	-0.9992	10	0.09843	T	0.71	0.1072	8.9904	0.36019	0.1307:0.2509:0.5355:0.0829	.	56	Q9NYZ3	GTSE1_HUMAN	I	75;35	ENSP00000415430:V75I	ENSP00000354634:V35I	V	+	1	0	GTSE1	45082965	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.755000	0.01814	-3.138000	0.00234	-2.321000	0.00252	GTT		PASS	0.463	GTSE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318360.2	NM_016426		134	109	134	109	---	---	---	---
TBC1D22A	25771	broad.mit.edu	37	22	47507500	47507500	+	Splice_Site	SNP	G	G	T	rs147421684		TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr22:47507500G>T	ENST00000337137.4	+	12	1591		c.e12+1		TBC1D22A_ENST00000355704.3_Splice_Site|TBC1D22A_ENST00000407381.3_Splice_Site|TBC1D22A_ENST00000406733.1_Splice_Site	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								protein homodimerization activity (GO:0042803)|Rab GTPase activator activity (GO:0005097)	p.?(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)		AGATTTTCAAGTAAGTAAATG	0.373																																						uc003bib.2																			1	Unknown(1)		lung(1)	ovary(1)	1						c.e12+1		TBC1 domain family, member 22A							62.0	62.0	62.0					22																	47507500		2203	4300	6503	SO:0001630	splice_region_variant	25771					intracellular	protein homodimerization activity|Rab GTPase activator activity	g.chr22:47507500G>T	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.1425+1G>T	22.37:g.47507500G>T						TBC1D22A_uc010haf.2_Splice_Site_p.Q445_splice|TBC1D22A_uc003bic.2_Splice_Site_p.Q416_splice|TBC1D22A_uc003bie.2_Splice_Site_p.Q397_splice|TBC1D22A_uc003bid.2_Splice_Site|TBC1D22A_uc010hag.2_Splice_Site|TBC1D22A_uc003bif.2_Splice_Site_p.Q428_splice	p.Q475_splice	NM_014346	NP_055161	Q8WUA7	TB22A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (28;0.0347)|BRCA - Breast invasive adenocarcinoma(115;0.231)	12	1560	+		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)						B0QYI2|B0QYI3|B9A6M3|Q5TE47|Q6ZUH2|Q92680|Q9BVD6|Q9UGG0|Q9UGT2|Q9UGU6|Q9UH25|Q9Y4W5	Splice_Site	SNP	ENST00000337137.4	37	c.1425_splice	CCDS14078.1	.	.	.	.	.	.	.	.	.	.	G	23.7	4.449277	0.84101	.	.	ENSG00000054611	ENST00000337137;ENST00000407381;ENST00000355704;ENST00000406733	.	.	.	5.3	5.3	0.74995	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.4417	0.83903	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	TBC1D22A	45886164	1.000000	0.71417	1.000000	0.80357	0.942000	0.58702	8.354000	0.90080	2.462000	0.83206	0.655000	0.94253	.		PASS	0.373	TBC1D22A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317600.3	NM_014346	Intron	26	27	26	27	---	---	---	---
BRD1	23774	broad.mit.edu	37	22	50216964	50216964	+	Silent	SNP	G	G	C	rs200706651		TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr22:50216964G>C	ENST00000216267.8	-	1	1488	c.1002C>G	c.(1000-1002)ggC>ggG	p.G334G	BRD1_ENST00000457780.2_Silent_p.G334G|BRD1_ENST00000404034.1_Silent_p.G334G|BRD1_ENST00000404760.1_Silent_p.G334G|BRD1_ENST00000542442.1_5'Flank|BRD1_ENST00000459821.1_5'Flank|BRD1_ENST00000342989.5_5'Flank	NM_014577.1	NP_055392.1	O95696	BRD1_HUMAN	bromodomain containing 1	334					histone H3 acetylation (GO:0043966)	MOZ/MORF histone acetyltransferase complex (GO:0070776)|nucleus (GO:0005634)	histone binding (GO:0042393)|zinc ion binding (GO:0008270)	p.G334G(1)		endometrium(6)|kidney(3)|large_intestine(5)|lung(17)|ovary(1)|pancreas(1)|prostate(3)|skin(1)	37		all_cancers(38;6.11e-10)|all_epithelial(38;8.06e-09)|all_lung(38;6.64e-05)|Lung NSC(38;0.0011)|Breast(42;0.00235)|Ovarian(80;0.0139)|Lung SC(80;0.164)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0369)|BRCA - Breast invasive adenocarcinoma(115;0.21)		AGGCACCCACGCCCTTCTGCT	0.562																																						uc003biv.2																			1	Substitution - coding silent(1)		lung(1)	pancreas(1)	1						c.(1000-1002)GGC>GGG		bromodomain containing protein 1							140.0	128.0	132.0					22																	50216964		2203	4300	6503	SO:0001819	synonymous_variant	23774				histone H3 acetylation	MOZ/MORF histone acetyltransferase complex	zinc ion binding	g.chr22:50216964G>C	AF005067	CCDS14080.1	22q13.33	2008-07-01	2002-01-14		ENSG00000100425	ENSG00000100425			1102	protein-coding gene	gene with protein product	"""BR140-like"""	604589	"""bromodomain-containing 1"""			10591208, 10602503	Standard	NM_014577		Approved	BRL, BRPF2	uc003biv.3	O95696	OTTHUMG00000150288	ENST00000216267.8:c.1002C>G	22.37:g.50216964G>C						BRD1_uc011arf.1_5'UTR|BRD1_uc011arg.1_Silent_p.G334G|BRD1_uc011arh.1_Silent_p.G334G|BRD1_uc003biu.3_Silent_p.G334G	p.G334G	NM_014577	NP_055392	O95696	BRD1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (28;0.0369)|BRCA - Breast invasive adenocarcinoma(115;0.21)	1	1489	-		all_cancers(38;6.11e-10)|all_epithelial(38;8.06e-09)|all_lung(38;6.64e-05)|Lung NSC(38;0.0011)|Breast(42;0.00235)|Ovarian(80;0.0139)|Lung SC(80;0.164)	334					A6ZJA4	Silent	SNP	ENST00000216267.8	37	c.1002C>G	CCDS14080.1																																																																																				PASS	0.562	BRD1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317402.1	NM_014577		86	76	86	76	---	---	---	---
TTLL8	164714	broad.mit.edu	37	22	50470358	50470358	+	Silent	SNP	G	G	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr22:50470358G>T	ENST00000266182.6	-	11	1463	c.1464C>A	c.(1462-1464)gcC>gcA	p.A488A	TTLL8_ENST00000440475.1_Silent_p.A468A			A6PVC2	TTLL8_HUMAN	tubulin tyrosine ligase-like family, member 8	504	TTL. {ECO:0000255|PROSITE- ProRule:PRU00568}.				cilium assembly (GO:0042384)|protein polyglycylation (GO:0018094)	axoneme (GO:0005930)|cilium (GO:0005929)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)	protein-glycine ligase activity (GO:0070735)|protein-glycine ligase activity, initiating (GO:0070736)	p.A488A(1)|p.A504A(1)		NS(1)|haematopoietic_and_lymphoid_tissue(1)|lung(6)|ovary(4)	12		all_cancers(38;3.44e-07)|all_epithelial(38;2.44e-06)|all_lung(38;0.00141)|Breast(42;0.00519)|Lung NSC(38;0.0199)|Ovarian(80;0.142)|Lung SC(80;0.162)		READ - Rectum adenocarcinoma(2;0.000882)|Colorectal(2;0.00311)|BRCA - Breast invasive adenocarcinoma(115;0.226)		TCATGGCGTGGGCGATGGCCT	0.642																																						uc011ark.1																			2	Substitution - coding silent(2)		lung(2)	ovary(2)	2						c.(1462-1464)GCC>GCA		tubulin tyrosine ligase-like family, member 8							64.0	68.0	67.0					22																	50470358		2195	4282	6477	SO:0001819	synonymous_variant	164714							g.chr22:50470358G>T			22q13.33	2013-02-14			ENSG00000138892	ENSG00000138892		"""Tubulin tyrosine ligase-like family"""	34000	protein-coding gene	gene with protein product						15890843	Standard	XM_003403745		Approved			A6PVC2	OTTHUMG00000150241	ENST00000266182.6:c.1464C>A	22.37:g.50470358G>T							p.A488A	NM_001080447	NP_001073916				READ - Rectum adenocarcinoma(2;0.000882)|Colorectal(2;0.00311)|BRCA - Breast invasive adenocarcinoma(115;0.226)	11	1464	-		all_cancers(38;3.44e-07)|all_epithelial(38;2.44e-06)|all_lung(38;0.00141)|Breast(42;0.00519)|Lung NSC(38;0.0199)|Ovarian(80;0.142)|Lung SC(80;0.162)						B5MDV0	Silent	SNP	ENST00000266182.6	37	c.1464C>A																																																																																					PASS	0.642	TTLL8-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_001080447		22	20	22	20	---	---	---	---
MOV10L1	54456	broad.mit.edu	37	22	50547090	50547090	+	Missense_Mutation	SNP	G	G	C			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr22:50547090G>C	ENST00000262794.5	+	5	643	c.560G>C	c.(559-561)tGc>tCc	p.C187S	MOV10L1_ENST00000395843.1_5'UTR|MOV10L1_ENST00000540615.1_Missense_Mutation_p.C167S|MOV10L1_ENST00000545383.1_Missense_Mutation_p.C187S|MOV10L1_ENST00000395858.3_Missense_Mutation_p.C187S	NM_018995.2	NP_061868.1	Q9BXT6	M10L1_HUMAN	Mov10 RISC complex RNA helicase like 1	187					ATP catabolic process (GO:0006200)|germ cell development (GO:0007281)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	intracellular (GO:0005622)	ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|magnesium ion binding (GO:0000287)|RNA binding (GO:0003723)	p.C167S(1)|p.C187S(1)		breast(2)|endometrium(2)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|prostate(1)|skin(9)|stomach(4)|urinary_tract(3)	67		all_cancers(38;3.31e-11)|all_epithelial(38;5.69e-10)|all_lung(38;3.73e-05)|Breast(42;0.000525)|Lung NSC(38;0.000954)|Ovarian(80;0.0367)|Lung SC(80;0.114)		LUAD - Lung adenocarcinoma(64;0.0215)|BRCA - Breast invasive adenocarcinoma(115;0.24)		TCCCAGGTCTGCATCTCTAGC	0.557																																						uc003bjj.2																			2	Substitution - Missense(2)		lung(2)	ovary(2)|skin(1)	3						c.(559-561)TGC>TCC		MOV10-like 1 isoform 1							105.0	91.0	96.0					22																	50547090		2203	4300	6503	SO:0001583	missense	54456				germ cell development|multicellular organismal development|spermatogenesis		ATP binding|ATP-dependent RNA helicase activity|magnesium ion binding|RNA binding	g.chr22:50547090G>C	AF285604	CCDS14084.1, CCDS54541.1, CCDS54542.1, CCDS54543.1	22q13.33	2014-07-02	2014-07-02		ENSG00000073146	ENSG00000073146			7201	protein-coding gene	gene with protein product	"""cardiac helicase activated by MEF2C protein"""	605794	"""Mov10 (mouse)-like 1"", ""Mov10l1, Moloney leukemia virus 10-like 1, homolog (mouse)"""			11279525	Standard	NM_018995		Approved	DJ402G11.8, DKFZp434B0717, CHAMP	uc003bjj.3	Q9BXT6	OTTHUMG00000044648	ENST00000262794.5:c.560G>C	22.37:g.50547090G>C	ENSP00000262794:p.Cys187Ser					MOV10L1_uc003bjk.3_Missense_Mutation_p.C187S|MOV10L1_uc011arp.1_Missense_Mutation_p.C167S	p.C187S	NM_018995	NP_061868	Q9BXT6	M10L1_HUMAN		LUAD - Lung adenocarcinoma(64;0.0215)|BRCA - Breast invasive adenocarcinoma(115;0.24)	5	643	+		all_cancers(38;3.31e-11)|all_epithelial(38;5.69e-10)|all_lung(38;3.73e-05)|Breast(42;0.000525)|Lung NSC(38;0.000954)|Ovarian(80;0.0367)|Lung SC(80;0.114)	187					A7E211|A8MXC6|B7WPP1|B7Z7R1|F5H403|Q5TGD5|Q8NBD4|Q9NXW3|Q9UFB3|Q9UGX9	Missense_Mutation	SNP	ENST00000262794.5	37	c.560G>C	CCDS14084.1	.	.	.	.	.	.	.	.	.	.	g	4.782	0.145368	0.09134	.	.	ENSG00000073146	ENST00000545383;ENST00000262794;ENST00000395858;ENST00000540615	T;T;T;T	0.39787	1.06;1.06;1.06;1.06	5.28	4.24	0.50183	.	0.330102	0.35151	N	0.003409	T	0.39886	0.1095	M	0.71206	2.165	0.80722	D	1	B;B;B	0.33883	0.056;0.43;0.245	B;B;B	0.32533	0.029;0.147;0.052	T	0.20107	-1.0285	10	0.15952	T	0.53	-24.6044	12.4712	0.55787	0.0:0.0:0.8323:0.1677	.	167;187;187	F5H403;A8MXC6;Q9BXT6	.;.;M10L1_HUMAN	S	187;187;187;167	ENSP00000438978:C187S;ENSP00000262794:C187S;ENSP00000379199:C187S;ENSP00000438542:C167S	ENSP00000262794:C187S	C	+	2	0	MOV10L1	48889217	0.938000	0.31826	0.974000	0.42286	0.363000	0.29612	2.714000	0.47202	1.203000	0.43233	0.627000	0.83407	TGC		PASS	0.557	MOV10L1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000075009.2	NM_018995		63	54	63	54	---	---	---	---
SHANK3	85358	broad.mit.edu	37	22	51160523	51160523	+	Missense_Mutation	SNP	C	C	A	rs546077287		TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr22:51160523C>A	ENST00000414786.2	+	21	4447	c.4220C>A	c.(4219-4221)cCg>cAg	p.P1407Q	SHANK3_ENST00000445220.2_Missense_Mutation_p.P1423Q|SHANK3_ENST00000262795.3_Missense_Mutation_p.P1437Q			Q9BYB0	SHAN3_HUMAN	SH3 and multiple ankyrin repeat domains 3	1421					adult behavior (GO:0030534)|alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor clustering (GO:0097113)|brain morphogenesis (GO:0048854)|dendritic spine morphogenesis (GO:0060997)|guanylate kinase-associated protein clustering (GO:0097117)|learning (GO:0007612)|MAPK cascade (GO:0000165)|memory (GO:0007613)|N-methyl-D-aspartate receptor clustering (GO:0097114)|negative regulation of actin filament bundle assembly (GO:0032232)|negative regulation of cell volume (GO:0045794)|positive regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000969)|positive regulation of dendritic spine development (GO:0060999)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of glutamate receptor signaling pathway (GO:1900451)|positive regulation of long-term neuronal synaptic plasticity (GO:0048170)|positive regulation of synapse structural plasticity (GO:0051835)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|postsynaptic density assembly (GO:0097107)|regulation of dendritic spine morphogenesis (GO:0061001)|regulation of long term synaptic depression (GO:1900452)|regulation of long-term synaptic potentiation (GO:1900271)|social behavior (GO:0035176)|striatal medium spiny neuron differentiation (GO:0021773)|synapse assembly (GO:0007416)|vocal learning (GO:0042297)|vocalization behavior (GO:0071625)	cell junction (GO:0030054)|ciliary membrane (GO:0060170)|cytoplasm (GO:0005737)|neuron projection (GO:0043005)|neuron spine (GO:0044309)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	GKAP/Homer scaffold activity (GO:0030160)|identical protein binding (GO:0042802)|ionotropic glutamate receptor binding (GO:0035255)|protein C-terminus binding (GO:0008022)|scaffold protein binding (GO:0097110)|SH3 domain binding (GO:0017124)|zinc ion binding (GO:0008270)	p.P1437Q(1)|p.P530Q(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|lung(5)	8		all_cancers(38;3.75e-11)|all_epithelial(38;1.82e-09)|Breast(42;0.000448)|all_lung(38;0.000665)|Lung NSC(38;0.0104)|Ovarian(80;0.104)|Lung SC(80;0.162)|Hepatocellular(38;0.178)		BRCA - Breast invasive adenocarcinoma(115;0.22)		CTCAAGTCCCCGCTGGGGAAG	0.652																																						uc003bne.1																			2	Substitution - Missense(2)		lung(2)	central_nervous_system(1)	1						c.(4309-4311)CCG>CAG		SH3 and multiple ankyrin repeat domains 3							25.0	31.0	29.0					22																	51160523		2126	4216	6342	SO:0001583	missense	85358							g.chr22:51160523C>A	AB051437		22q13.3	2013-11-14			ENSG00000251322	ENSG00000251322		"""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	14294	protein-coding gene	gene with protein product	"""proline rich synapse associated protein 2"", ""shank postsynaptic density protein"""	606230				11258795, 11431708, 10806096, 17173049	Standard	NM_033517		Approved	SPANK-2, prosap2, KIAA1650, PSAP2	uc031ryd.1	Q9BYB0	OTTHUMG00000150169	ENST00000414786.2:c.4220C>A	22.37:g.51160523C>A	ENSP00000464552:p.Pro1407Gln					SHANK3_uc003bnf.1_Missense_Mutation_p.P884Q|SHANK3_uc010hbg.1_Missense_Mutation_p.P619Q	p.P1437Q	NM_001080420	NP_001073889	F2Z3L0	F2Z3L0_HUMAN		BRCA - Breast invasive adenocarcinoma(115;0.22)	22	4310	+		all_cancers(38;3.75e-11)|all_epithelial(38;1.82e-09)|Breast(42;0.000448)|all_lung(38;0.000665)|Lung NSC(38;0.0104)|Ovarian(80;0.104)|Lung SC(80;0.162)|Hepatocellular(38;0.178)	1437					D7UT47|Q8TET3	Missense_Mutation	SNP	ENST00000414786.2	37	c.4310C>A		.	.	.	.	.	.	.	.	.	.	C	12.22	1.873742	0.33069	.	.	ENSG00000251322	ENST00000262795;ENST00000445220	T;T	0.16324	2.35;2.35	5.29	4.21	0.49690	.	0.188133	0.47093	D	0.000254	T	0.06826	0.0174	N	0.02736	-0.51	0.24148	N	0.9957	B;B;B	0.23128	0.005;0.08;0.033	B;B;B	0.17722	0.011;0.019;0.016	T	0.30794	-0.9966	10	0.26408	T	0.33	.	10.3687	0.44039	0.3141:0.6859:0.0:0.0	.	1421;1422;1437	D7UT47;Q9BYB0;F2Z3L0	.;SHAN3_HUMAN;.	Q	1437;1423	ENSP00000442518:P1437Q;ENSP00000446078:P1423Q	ENSP00000442518:P1437Q	P	+	2	0	SHANK3	49507389	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.094000	0.50227	2.483000	0.83821	0.462000	0.41574	CCG		PASS	0.652	SHANK3-001	KNOWN	non_canonical_polymorphism|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000316674.2	NM_001080420		6	8	6	8	---	---	---	---
CSF2RA	1438	broad.mit.edu	37	X	1404669	1404669	+	Splice_Site	SNP	A	A	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chrX:1404669A>T	ENST00000381524.3	+	4	262		c.e4-1		CSF2RA_ENST00000417535.2_Splice_Site|CSF2RA_ENST00000432318.2_Splice_Site|CSF2RA_ENST00000361536.3_Splice_Site|CSF2RA_ENST00000381509.3_Splice_Site|CSF2RA_ENST00000381529.3_Splice_Site|CSF2RA_ENST00000355805.2_Splice_Site|CSF2RA_ENST00000501036.2_Intron|CSF2RA_ENST00000355432.3_Splice_Site|CSF2RA_ENST00000494969.2_Splice_Site|CSF2RA_ENST00000381500.1_Splice_Site			P15509	CSF2R_HUMAN	colony stimulating factor 2 receptor, alpha, low-affinity (granulocyte-macrophage)						response to ethanol (GO:0045471)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cytokine receptor activity (GO:0004896)|receptor activity (GO:0004872)	p.?(3)		central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(6)|lung(21)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	45		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)			Sargramostim(DB00020)	CGCTCCTTGCAGATCTGCGAA	0.428																																					Esophageal Squamous(131;723 1707 25334 40494 41806)	uc010nct.2																			3	Unknown(3)		lung(3)	ovary(2)	2						c.e5-2		colony stimulating factor 2 receptor alpha chain	Sargramostim(DB00020)						131.0	133.0	132.0					X																	1404669		2203	4296	6499	SO:0001630	splice_region_variant	1438					extracellular region|integral to plasma membrane	cytokine receptor activity	g.chrX:1404669A>T	M64445	CCDS35190.1, CCDS35191.1, CCDS35192.1, CCDS35193.1, CCDS55359.1, CCDS55360.1, CCDS55361.1	Xp22.32 and Yp11.3	2014-09-17			ENSG00000198223	ENSG00000198223		"""CD molecules"", ""Pseudoautosomal regions / PAR1"""	2435	protein-coding gene	gene with protein product		306250, 425000		CSF2R		1702217	Standard	NM_006140		Approved	CD116	uc010ncv.2	P15509	OTTHUMG00000012533	ENST00000381524.3:c.77-1A>T	X.37:g.1404669A>T						CSF2RA_uc011mhb.1_Splice_Site_p.D26_splice|CSF2RA_uc004cpq.2_Splice_Site_p.D26_splice|CSF2RA_uc004cpn.2_Splice_Site_p.D26_splice|CSF2RA_uc004cpo.2_Splice_Site_p.D26_splice|CSF2RA_uc010ncu.2_Splice_Site|CSF2RA_uc011mhc.1_Intron|CSF2RA_uc004cpp.2_Splice_Site_p.D26_splice|CSF2RA_uc010ncv.2_Splice_Site_p.D26_splice|CSF2RA_uc004cpr.2_Splice_Site_p.D26_splice	p.D26_splice	NM_001161529	NP_001155001	P15509	CSF2R_HUMAN			5	399	+		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)						A7J003|A8KAM1|B4DW68|J3JS76|J3JS77|O00207|Q14429|Q14430|Q14431|Q16564	Splice_Site	SNP	ENST00000381524.3	37	c.77_splice	CCDS35191.1	.	.	.	.	.	.	.	.	.	.	.	0.729	-0.780559	0.02929	.	.	ENSG00000198223	ENST00000381529;ENST00000432318;ENST00000361536;ENST00000381507;ENST00000381524;ENST00000412290;ENST00000419094;ENST00000381509;ENST00000355805;ENST00000355432;ENST00000417535;ENST00000381500	.	.	.	0.725	0.725	0.18242	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-1	.	.	.	+	.	.	CSF2RA	1364669	0.027000	0.19231	0.004000	0.12327	0.150000	0.21749	1.188000	0.32102	0.559000	0.29153	0.046000	0.15203	.		PASS	0.428	CSF2RA-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000035013.2		Intron	17	43	17	43	---	---	---	---
MXRA5	25878	broad.mit.edu	37	X	3236019	3236019	+	Missense_Mutation	SNP	C	C	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chrX:3236019C>A	ENST00000217939.6	-	6	5857	c.5703G>T	c.(5701-5703)agG>agT	p.R1901S		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	1901	Ig-like C2-type 3.					extracellular vesicular exosome (GO:0070062)		p.R1901S(2)		NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				ACCGTTGTATCCTGGTATTCG	0.453																																						uc004crg.3																			2	Substitution - Missense(2)		lung(2)	ovary(5)|lung(1)|central_nervous_system(1)|skin(1)	8						c.(5701-5703)AGG>AGT		adlican precursor							41.0	33.0	36.0					X																	3236019		2203	4298	6501	SO:0001583	missense	25878					extracellular region		g.chrX:3236019C>A	AF245505	CCDS14124.1	Xp22.33	2013-01-29			ENSG00000101825	ENSG00000101825		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	7539	protein-coding gene	gene with protein product	"""adlican"""					12101425	Standard	NM_015419		Approved	DKFZp564I1922	uc004crg.4	Q9NR99	OTTHUMG00000021083	ENST00000217939.6:c.5703G>T	X.37:g.3236019C>A	ENSP00000217939:p.Arg1901Ser						p.R1901S	NM_015419	NP_056234	Q9NR99	MXRA5_HUMAN			6	5860	-		all_lung(23;0.00031)|Lung NSC(23;0.000946)	1901			Ig-like C2-type 3.		Q6P1M7|Q9Y3Y8	Missense_Mutation	SNP	ENST00000217939.6	37	c.5703G>T	CCDS14124.1	.	.	.	.	.	.	.	.	.	.	c	10.06	1.247950	0.22880	.	.	ENSG00000101825	ENST00000381114;ENST00000217939	T	0.69435	-0.4	3.22	-0.00313	0.14027	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.198631	0.24298	U	0.039758	T	0.46946	0.1419	N	0.08118	0	0.22851	N	0.998652	P	0.51653	0.947	P	0.51101	0.659	T	0.42565	-0.9444	10	0.37606	T	0.19	.	4.2377	0.10634	0.0:0.4881:0.1706:0.3414	.	1901	Q9NR99	MXRA5_HUMAN	S	1901	ENSP00000217939:R1901S	ENSP00000217939:R1901S	R	-	3	2	MXRA5	3246019	0.001000	0.12720	0.000000	0.03702	0.191000	0.23601	0.327000	0.19663	-0.167000	0.10871	0.529000	0.55759	AGG		PASS	0.453	MXRA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055655.2	NM_015419		17	14	17	14	---	---	---	---
MXRA5	25878	broad.mit.edu	37	X	3240743	3240743	+	Nonsense_Mutation	SNP	C	C	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chrX:3240743C>A	ENST00000217939.6	-	5	3137	c.2983G>T	c.(2983-2985)Gaa>Taa	p.E995*		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	995						extracellular vesicular exosome (GO:0070062)		p.E995*(2)		NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				AAGGTGTCTTCTTTCATCTTA	0.468																																						uc004crg.3																			2	Substitution - Nonsense(2)		lung(2)	ovary(5)|lung(1)|central_nervous_system(1)|skin(1)	8						c.(2983-2985)GAA>TAA		adlican precursor							174.0	131.0	145.0					X																	3240743		2203	4300	6503	SO:0001587	stop_gained	25878					extracellular region		g.chrX:3240743C>A	AF245505	CCDS14124.1	Xp22.33	2013-01-29			ENSG00000101825	ENSG00000101825		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	7539	protein-coding gene	gene with protein product	"""adlican"""					12101425	Standard	NM_015419		Approved	DKFZp564I1922	uc004crg.4	Q9NR99	OTTHUMG00000021083	ENST00000217939.6:c.2983G>T	X.37:g.3240743C>A	ENSP00000217939:p.Glu995*						p.E995*	NM_015419	NP_056234	Q9NR99	MXRA5_HUMAN			5	3140	-		all_lung(23;0.00031)|Lung NSC(23;0.000946)	995					Q6P1M7|Q9Y3Y8	Nonsense_Mutation	SNP	ENST00000217939.6	37	c.2983G>T	CCDS14124.1	.	.	.	.	.	.	.	.	.	.	c	38	6.794868	0.97845	.	.	ENSG00000101825	ENST00000381114;ENST00000217939	.	.	.	3.15	2.16	0.27623	.	0.655315	0.12512	U	0.462420	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.33141	T	0.24	.	4.9197	0.13864	0.3368:0.4839:0.1793:0.0	.	.	.	.	X	995	.	ENSP00000217939:E995X	E	-	1	0	MXRA5	3250743	0.002000	0.14202	0.002000	0.10522	0.007000	0.05969	0.690000	0.25451	1.354000	0.45846	0.529000	0.55759	GAA		PASS	0.468	MXRA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055655.2	NM_015419		38	37	38	37	---	---	---	---
NLGN4X	57502	broad.mit.edu	37	X	5810954	5810954	+	Silent	SNP	T	T	G			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chrX:5810954T>G	ENST00000381095.3	-	6	2982	c.2355A>C	c.(2353-2355)acA>acC	p.T785T	NLGN4X_ENST00000381092.1_Silent_p.T785T|NLGN4X_ENST00000381093.2_Silent_p.T805T|NLGN4X_ENST00000275857.6_Silent_p.T785T|NLGN4X_ENST00000538097.1_Silent_p.T785T	NM_001282145.1|NM_001282146.1|NM_181332.1	NP_001269074.1|NP_001269075.1|NP_851849.1	Q8N0W4	NLGNX_HUMAN	neuroligin 4, X-linked	785					adult behavior (GO:0030534)|brainstem development (GO:0003360)|cell-cell junction organization (GO:0045216)|cerebellum development (GO:0021549)|learning (GO:0007612)|negative regulation of excitatory postsynaptic membrane potential (GO:0090394)|neuron cell-cell adhesion (GO:0007158)|neuron differentiation (GO:0030182)|organ growth (GO:0035265)|presynaptic membrane assembly (GO:0097105)|social behavior (GO:0035176)|synapse organization (GO:0050808)|vocalization behavior (GO:0071625)	cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|excitatory synapse (GO:0060076)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	cell adhesion molecule binding (GO:0050839)|chloride ion binding (GO:0031404)|neurexin family protein binding (GO:0042043)|protein homodimerization activity (GO:0042803)|receptor activity (GO:0004872)	p.T785T(1)		breast(1)|cervix(2)|endometrium(4)|large_intestine(21)|lung(39)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	81						TCCCCGTCAGTGTGTTTGGAA	0.517																																						uc010ndh.2																			1	Substitution - coding silent(1)		lung(1)	skin(2)|large_intestine(1)|ovary(1)	4						c.(2353-2355)ACA>ACC		X-linked neuroligin 4 precursor							296.0	243.0	261.0					X																	5810954		2203	4300	6503	SO:0001819	synonymous_variant	57502				brainstem development|cell adhesion|cell-cell junction organization|cerebellum development|male courtship behavior|positive regulation of organ growth|regulation of excitatory postsynaptic membrane potential|social behavior|synapse assembly|territorial aggressive behavior|vocalization behavior	cell surface|dendrite|integral to plasma membrane|synapse	chloride ion binding|neurexin binding|protein homodimerization activity|receptor activity	g.chrX:5810954T>G	AB033086	CCDS14126.1	Xp22.33	2008-02-05	2004-05-21	2004-05-26	ENSG00000146938	ENSG00000146938			14287	protein-coding gene	gene with protein product		300427	"""neuroligin 4"""	NLGN4		10574462	Standard	XM_005274564		Approved	KIAA1260, NLGN, HLNX	uc004crr.3	Q8N0W4	OTTHUMG00000021093	ENST00000381095.3:c.2355A>C	X.37:g.5810954T>G						NLGN4X_uc004crp.2_Silent_p.T805T|NLGN4X_uc004crq.2_Silent_p.T785T|NLGN4X_uc010ndi.2_Silent_p.T822T|NLGN4X_uc004crr.2_Silent_p.T785T|NLGN4X_uc010ndj.2_Silent_p.T785T	p.T785T	NM_181332	NP_851849	Q8N0W4	NLGNX_HUMAN			6	2856	-			785			Cytoplasmic (Potential).		Q6UX10|Q9ULG0	Silent	SNP	ENST00000381095.3	37	c.2355A>C	CCDS14126.1																																																																																				PASS	0.517	NLGN4X-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000055673.1	NM_020742		23	19	23	19	---	---	---	---
NLGN4X	57502	broad.mit.edu	37	X	5827147	5827147	+	Silent	SNP	C	C	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chrX:5827147C>A	ENST00000381095.3	-	4	1386	c.759G>T	c.(757-759)tcG>tcT	p.S253S	NLGN4X_ENST00000381092.1_Silent_p.S253S|NLGN4X_ENST00000381093.2_Silent_p.S273S|NLGN4X_ENST00000275857.6_Silent_p.S253S|NLGN4X_ENST00000538097.1_Silent_p.S253S	NM_001282145.1|NM_001282146.1|NM_181332.1	NP_001269074.1|NP_001269075.1|NP_851849.1	Q8N0W4	NLGNX_HUMAN	neuroligin 4, X-linked	253					adult behavior (GO:0030534)|brainstem development (GO:0003360)|cell-cell junction organization (GO:0045216)|cerebellum development (GO:0021549)|learning (GO:0007612)|negative regulation of excitatory postsynaptic membrane potential (GO:0090394)|neuron cell-cell adhesion (GO:0007158)|neuron differentiation (GO:0030182)|organ growth (GO:0035265)|presynaptic membrane assembly (GO:0097105)|social behavior (GO:0035176)|synapse organization (GO:0050808)|vocalization behavior (GO:0071625)	cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|excitatory synapse (GO:0060076)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	cell adhesion molecule binding (GO:0050839)|chloride ion binding (GO:0031404)|neurexin family protein binding (GO:0042043)|protein homodimerization activity (GO:0042803)|receptor activity (GO:0004872)	p.S253S(1)		breast(1)|cervix(2)|endometrium(4)|large_intestine(21)|lung(39)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	81						CCCCAGCCCCCGAGCCAAAGA	0.582																																						uc010ndh.2																			1	Substitution - coding silent(1)		lung(1)	skin(2)|large_intestine(1)|ovary(1)	4						c.(757-759)TCG>TCT		X-linked neuroligin 4 precursor							67.0	62.0	64.0					X																	5827147		2203	4300	6503	SO:0001819	synonymous_variant	57502				brainstem development|cell adhesion|cell-cell junction organization|cerebellum development|male courtship behavior|positive regulation of organ growth|regulation of excitatory postsynaptic membrane potential|social behavior|synapse assembly|territorial aggressive behavior|vocalization behavior	cell surface|dendrite|integral to plasma membrane|synapse	chloride ion binding|neurexin binding|protein homodimerization activity|receptor activity	g.chrX:5827147C>A	AB033086	CCDS14126.1	Xp22.33	2008-02-05	2004-05-21	2004-05-26	ENSG00000146938	ENSG00000146938			14287	protein-coding gene	gene with protein product		300427	"""neuroligin 4"""	NLGN4		10574462	Standard	XM_005274564		Approved	KIAA1260, NLGN, HLNX	uc004crr.3	Q8N0W4	OTTHUMG00000021093	ENST00000381095.3:c.759G>T	X.37:g.5827147C>A						NLGN4X_uc004crp.2_Silent_p.S273S|NLGN4X_uc004crq.2_Silent_p.S253S|NLGN4X_uc010ndi.2_Silent_p.S290S|NLGN4X_uc004crr.2_Silent_p.S253S|NLGN4X_uc010ndj.2_Silent_p.S253S	p.S253S	NM_181332	NP_851849	Q8N0W4	NLGNX_HUMAN			4	1260	-			253			Extracellular (Potential).		Q6UX10|Q9ULG0	Silent	SNP	ENST00000381095.3	37	c.759G>T	CCDS14126.1																																																																																				PASS	0.582	NLGN4X-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000055673.1	NM_020742		14	30	14	30	---	---	---	---
FANCB	2187	broad.mit.edu	37	X	14861980	14861980	+	Missense_Mutation	SNP	C	C	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chrX:14861980C>A	ENST00000324138.3	-	9	2442	c.2289G>T	c.(2287-2289)ttG>ttT	p.L763F	FANCB_ENST00000398334.1_Missense_Mutation_p.L763F	NM_152633.2	NP_689846.1	Q8NB91	FANCB_HUMAN	Fanconi anemia, complementation group B	763					DNA repair (GO:0006281)	Fanconi anaemia nuclear complex (GO:0043240)|nucleoplasm (GO:0005654)		p.L763F(1)		NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(9)|skin(1)|upper_aerodigestive_tract(1)	24	Hepatocellular(33;0.183)					GTTCCTTCTCCAAAGTAAATG	0.363								Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia																													uc004cwg.1																			1	Substitution - Missense(1)		lung(1)	lung(1)	1						c.(2287-2289)TTG>TTT	Involved_in_tolerance_or_repair_of_DNA_crosslinks	Fanconi anemia complementation group B							91.0	85.0	87.0					X																	14861980		2203	4299	6502	SO:0001583	missense	2187	Fanconi_Anemia	Familial Cancer Database	Pancytopenia Dysmelia, FA (several complementation groups)	DNA repair	nucleoplasm		g.chrX:14861980C>A	AK091383	CCDS14161.1	Xp22.2	2014-09-17			ENSG00000181544	ENSG00000181544		"""Fanconi anemia, complementation groups"""	3583	protein-coding gene	gene with protein product		300515				9382107, 15502827	Standard	NM_152633		Approved	FAB, FLJ34064, FAAP95	uc004cwh.1	Q8NB91	OTTHUMG00000021168	ENST00000324138.3:c.2289G>T	X.37:g.14861980C>A	ENSP00000326819:p.Leu763Phe					FANCB_uc004cwh.1_Missense_Mutation_p.L763F	p.L763F	NM_001018113	NP_001018123	Q8NB91	FANCB_HUMAN			10	2557	-	Hepatocellular(33;0.183)		763					B2RMZ4|Q7Z2U2|Q86XG1	Missense_Mutation	SNP	ENST00000324138.3	37	c.2289G>T	CCDS14161.1	.	.	.	.	.	.	.	.	.	.	C	13.35	2.209924	0.39003	.	.	ENSG00000181544	ENST00000324138;ENST00000398334;ENST00000452869	.	.	.	5.6	4.63	0.57726	.	0.000000	0.64402	D	0.000002	T	0.70133	0.3189	M	0.63843	1.955	0.38226	D	0.940899	D	0.89917	1.0	D	0.91635	0.999	T	0.74340	-0.3697	9	0.62326	D	0.03	-8.5328	9.6617	0.39958	0.0:0.8095:0.0:0.1905	.	763	Q8NB91	FANCB_HUMAN	F	763	.	ENSP00000326819:L763F	L	-	3	2	FANCB	14771901	1.000000	0.71417	0.997000	0.53966	0.267000	0.26476	1.326000	0.33735	2.345000	0.79718	0.594000	0.82650	TTG		PASS	0.363	FANCB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055835.1	NM_152633		40	36	40	36	---	---	---	---
PRDX4	10549	broad.mit.edu	37	X	23685870	23685870	+	Silent	SNP	G	G	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chrX:23685870G>T	ENST00000379341.4	+	1	308	c.183G>T	c.(181-183)ccG>ccT	p.P61P	PRDX4_ENST00000495599.1_3'UTR|PRDX4_ENST00000379331.3_Silent_p.P61P	NM_006406.1	NP_006397.1	Q13162	PRDX4_HUMAN	peroxiredoxin 4	61					4-hydroxyproline metabolic process (GO:0019471)|cell redox homeostasis (GO:0045454)|extracellular matrix organization (GO:0030198)|I-kappaB phosphorylation (GO:0007252)|male gonad development (GO:0008584)|negative regulation of male germ cell proliferation (GO:2000255)|protein maturation by protein folding (GO:0022417)|reactive oxygen species metabolic process (GO:0072593)|spermatogenesis (GO:0007283)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	thioredoxin peroxidase activity (GO:0008379)	p.P61P(1)		lung(6)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	9						AAGTGTACCCGGGAGAGGCAT	0.647																																						uc004dam.2																			1	Substitution - coding silent(1)		lung(1)	upper_aerodigestive_tract(1)	1						c.(181-183)CCG>CCT		peroxiredoxin 4							39.0	33.0	35.0					X																	23685870		2202	4300	6502	SO:0001819	synonymous_variant	10549				cell redox homeostasis|I-kappaB phosphorylation		thioredoxin peroxidase activity	g.chrX:23685870G>T	U25182	CCDS14206.1	Xp22.11	2012-09-20			ENSG00000123131	ENSG00000123131			17169	protein-coding gene	gene with protein product		300927				9388242	Standard	XM_005274438		Approved	AOE37-2	uc004dam.3	Q13162	OTTHUMG00000021253	ENST00000379341.4:c.183G>T	X.37:g.23685870G>T							p.P61P	NM_006406	NP_006397	Q13162	PRDX4_HUMAN			1	226	+			61					Q6FHT3	Silent	SNP	ENST00000379341.4	37	c.183G>T	CCDS14206.1																																																																																				PASS	0.647	PRDX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056049.1	NM_006406		14	16	14	16	---	---	---	---
PDK3	5165	broad.mit.edu	37	X	24544341	24544341	+	Missense_Mutation	SNP	G	G	C			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chrX:24544341G>C	ENST00000379162.4	+	7	935	c.700G>C	c.(700-702)Gtg>Ctg	p.V234L	PDK3_ENST00000441463.2_Missense_Mutation_p.V234L	NM_005391.4	NP_005382.1	Q15120	PDK3_HUMAN	pyruvate dehydrogenase kinase, isozyme 3	234	Histidine kinase. {ECO:0000255|PROSITE- ProRule:PRU00107}.				cell death (GO:0008219)|cellular metabolic process (GO:0044237)|cellular response to fatty acid (GO:0071398)|cellular response to glucose stimulus (GO:0071333)|glucose metabolic process (GO:0006006)|hypoxia-inducible factor-1alpha signaling pathway (GO:0097411)|peptidyl-serine phosphorylation (GO:0018105)|peroxisome proliferator activated receptor signaling pathway (GO:0035357)|pyruvate metabolic process (GO:0006090)|regulation of acetyl-CoA biosynthetic process from pyruvate (GO:0010510)|regulation of glucose metabolic process (GO:0010906)|regulation of reactive oxygen species metabolic process (GO:2000377)|small molecule metabolic process (GO:0044281)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|pyruvate dehydrogenase (acetyl-transferring) kinase activity (GO:0004740)	p.V234L(2)		NS(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	23						ACCTATTCAGGTGGTTTATGT	0.358																																						uc004dbg.2																			2	Substitution - Missense(2)		lung(2)	lung(4)|upper_aerodigestive_tract(1)|ovary(1)	6						c.(700-702)GTG>CTG		pyruvate dehydrogenase kinase 3 isoform 2							147.0	120.0	129.0					X																	24544341		2203	4300	6503	SO:0001583	missense	5165				glucose metabolic process|peptidyl-histidine phosphorylation|pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate	mitochondrial matrix	ATP binding|protein binding|pyruvate dehydrogenase (acetyl-transferring) kinase activity|two-component sensor activity	g.chrX:24544341G>C	L42452	CCDS14212.1, CCDS48088.1	Xp22.12	2008-02-05	2005-11-16		ENSG00000067992	ENSG00000067992			8811	protein-coding gene	gene with protein product		300906	"""pyruvate dehydrogenase kinase, isoenzyme 3"""			7499431	Standard	NM_001142386		Approved		uc004dbh.3	Q15120	OTTHUMG00000021269	ENST00000379162.4:c.700G>C	X.37:g.24544341G>C	ENSP00000368460:p.Val234Leu					PDK3_uc004dbh.2_Missense_Mutation_p.V234L	p.V234L	NM_005391	NP_005382	Q15120	PDK3_HUMAN			7	929	+			234			Histidine kinase.		B4DXG6	Missense_Mutation	SNP	ENST00000379162.4	37	c.700G>C	CCDS14212.1	.	.	.	.	.	.	.	.	.	.	G	17.81	3.479930	0.63849	.	.	ENSG00000067992	ENST00000379162;ENST00000441463	T;T	0.77750	-1.12;-1.12	4.94	4.94	0.65067	ATPase-like, ATP-binding domain (2);	0.118956	0.56097	D	0.000023	T	0.75700	0.3885	L	0.55834	1.745	0.58432	D	0.999996	B;B	0.16802	0.011;0.019	B;B	0.23275	0.019;0.045	T	0.73046	-0.4106	10	0.49607	T	0.09	.	17.413	0.87492	0.0:0.0:1.0:0.0	.	234;234	B4DXG6;Q15120	.;PDK3_HUMAN	L	234	ENSP00000368460:V234L;ENSP00000387536:V234L	ENSP00000368460:V234L	V	+	1	0	PDK3	24454262	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.003000	0.93577	2.295000	0.77249	0.538000	0.68166	GTG		PASS	0.358	PDK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056097.1	NM_005391		13	23	13	23	---	---	---	---
MAGEB6	158809	broad.mit.edu	37	X	26212737	26212737	+	Missense_Mutation	SNP	C	C	A	rs143373947	byFrequency	TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chrX:26212737C>A	ENST00000379034.1	+	2	923	c.774C>A	c.(772-774)agC>agA	p.S258R		NM_173523.2	NP_775794.2	Q8N7X4	MAGB6_HUMAN	melanoma antigen family B, 6	258	MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.							p.S258R(1)		breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(18)|ovary(3)|prostate(2)	33						TGGATTCCAGCGGCGAGTCCT	0.537																																						uc004dbr.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)	3						c.(772-774)AGC>AGA		melanoma antigen family B, 6							76.0	64.0	68.0					X																	26212737		2202	4300	6502	SO:0001583	missense	158809							g.chrX:26212737C>A	AF320514	CCDS14217.1	Xp22.12	2009-03-17			ENSG00000176746	ENSG00000176746			23796	protein-coding gene	gene with protein product	"""cancer/testis antigen family 3, member 4"""	300467				10861452	Standard	NM_173523		Approved	FLJ40242, MAGE-B6, MAGEB6A, CT3.4	uc004dbr.3	Q8N7X4	OTTHUMG00000021285	ENST00000379034.1:c.774C>A	X.37:g.26212737C>A	ENSP00000368320:p.Ser258Arg					MAGEB6_uc010ngc.1_Missense_Mutation_p.S38R	p.S258R	NM_173523	NP_775794	Q8N7X4	MAGB6_HUMAN			2	923	+			258			MAGE.		Q6GS19|Q9H219	Missense_Mutation	SNP	ENST00000379034.1	37	c.774C>A	CCDS14217.1	.	.	.	.	.	.	.	.	.	.	C	2.004	-0.428707	0.04701	.	.	ENSG00000176746	ENST00000379034	T	0.04360	3.64	3.1	-5.37	0.02681	.	0.334596	0.28760	U	0.014226	T	0.03263	0.0095	N	0.20881	0.62	0.09310	N	1	P	0.39181	0.663	B	0.43018	0.405	T	0.21381	-1.0247	10	0.40728	T	0.16	.	6.1106	0.20097	0.1447:0.1932:0.0:0.6621	.	258	Q8N7X4	MAGB6_HUMAN	R	258	ENSP00000368320:S258R	ENSP00000368320:S258R	S	+	3	2	MAGEB6	26122658	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-2.360000	0.01084	-1.784000	0.01272	-1.119000	0.02030	AGC		PASS	0.537	MAGEB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056123.1	NM_173523		23	19	23	19	---	---	---	---
DMD	1756	broad.mit.edu	37	X	31947805	31947805	+	Nonsense_Mutation	SNP	C	C	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chrX:31947805C>A	ENST00000357033.4	-	47	7026	c.6820G>T	c.(6820-6822)Gga>Tga	p.G2274*	DMD_ENST00000359836.1_5'UTR|DMD_ENST00000343523.2_5'UTR|DMD_ENST00000378707.3_5'UTR|DMD_ENST00000378677.2_Nonsense_Mutation_p.G2270*|DMD_ENST00000541735.1_5'UTR|DMD_ENST00000474231.1_5'UTR	NM_000109.3|NM_004006.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN	dystrophin	2274					cardiac muscle cell action potential (GO:0086001)|cardiac muscle contraction (GO:0060048)|cellular protein complex assembly (GO:0043623)|cellular protein localization (GO:0034613)|extracellular matrix organization (GO:0030198)|motile cilium assembly (GO:0044458)|muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|negative regulation of peptidyl-cysteine S-nitrosylation (GO:1902083)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|peptide biosynthetic process (GO:0043043)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of cellular response to growth factor stimulus (GO:0090287)|regulation of heart rate (GO:0002027)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)|regulation of skeletal muscle contraction (GO:0014819)|regulation of skeletal muscle contraction by regulation of release of sequestered calcium ion (GO:0014809)|regulation of voltage-gated calcium channel activity (GO:1901385)	cell junction (GO:0030054)|cell surface (GO:0009986)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dystrophin-associated glycoprotein complex (GO:0016010)|filopodium (GO:0030175)|filopodium membrane (GO:0031527)|membrane raft (GO:0045121)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|protein complex (GO:0043234)|sarcolemma (GO:0042383)|syntrophin complex (GO:0016013)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|dystroglycan binding (GO:0002162)|myosin binding (GO:0017022)|nitric-oxide synthase binding (GO:0050998)|structural constituent of cytoskeleton (GO:0005200)|structural constituent of muscle (GO:0008307)|vinculin binding (GO:0017166)|zinc ion binding (GO:0008270)	p.G2270*(1)|p.G2269*(1)|p.G933*(1)|p.G2274*(1)		NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				ACGGGTCCTCCAGTTTCATTT	0.418																																						uc004dda.1																			4	Substitution - Nonsense(4)		lung(4)	ovary(3)|pancreas(2)|large_intestine(1)	6						c.(6820-6822)GGA>TGA		dystrophin Dp427m isoform							168.0	137.0	147.0					X																	31947805		2202	4300	6502	SO:0001587	stop_gained	1756				muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding	g.chrX:31947805C>A	AF047505	CCDS14231.1, CCDS14232.1, CCDS14233.1, CCDS14234.1, CCDS48091.1, CCDS55394.1, CCDS55395.1, CCDS75965.1	Xp21.2	2014-09-17	2008-08-01		ENSG00000198947	ENSG00000198947			2928	protein-coding gene	gene with protein product	"""muscular dystrophy, Duchenne and Becker types"""	300377	"""dystrophin (muscular dystrophy, Duchenne and Becker types), includes DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272"", ""mental retardation, X-linked 85"""	MRX85		3282674, 3607877, 23900271	Standard	NM_004019		Approved	BMD, DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272	uc004dda.1	P11532	OTTHUMG00000021336	ENST00000357033.4:c.6820G>T	X.37:g.31947805C>A	ENSP00000354923:p.Gly2274*					DMD_uc004dcr.1_5'UTR|DMD_uc004dcs.1_5'UTR|DMD_uc004dct.1_5'UTR|DMD_uc004dcu.1_5'UTR|DMD_uc004dcv.1_5'UTR|DMD_uc004dcw.2_Nonsense_Mutation_p.G930*|DMD_uc004dcx.2_Nonsense_Mutation_p.G933*|DMD_uc004dcz.2_Nonsense_Mutation_p.G2151*|DMD_uc004dcy.1_Nonsense_Mutation_p.G2270*|DMD_uc004ddb.1_Nonsense_Mutation_p.G2266*|DMD_uc010ngn.1_Intron	p.G2274*	NM_004006	NP_003997	P11532	DMD_HUMAN			47	7064	-		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)	2274			Spectrin 16.		E9PDN1|Q02295|Q14169|Q14170|Q5JYU0|Q6NSJ9|Q7KZ48|Q8N754|Q9UCW3|Q9UCW4	Nonsense_Mutation	SNP	ENST00000357033.4	37	c.6820G>T	CCDS14233.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	50|50	16.524332|16.524332	0.99865|0.99865	.|.	.|.	ENSG00000198947|ENSG00000198947	ENST00000534884;ENST00000378682;ENST00000378684;ENST00000378677;ENST00000357033;ENST00000542849;ENST00000535280|ENST00000465285	.|.	.|.	.|.	5.02|5.02	3.24|3.24	0.37175|0.37175	.|.	0.000000|.	0.34223|.	U|.	0.004157|.	.|T	.|0.61009	.|0.2313	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.55509	.|-0.8130	.|4	0.34782|.	T|.	0.22|.	.|.	10.6183|10.6183	0.45465|0.45465	0.0:0.8383:0.0:0.1617|0.0:0.8383:0.0:0.1617	.|.	.|.	.|.	.|.	X|L	2266;933;930;2270;2274;2274;2151|2	.|.	ENSP00000354923:G2274X|.	G|W	-|-	1|2	0|0	DMD|DMD	31857726|31857726	0.919000|0.919000	0.31177|0.31177	0.583000|0.583000	0.28640|0.28640	0.469000|0.469000	0.32828|0.32828	1.771000|1.771000	0.38542|0.38542	0.447000|0.447000	0.26695|0.26695	0.600000|0.600000	0.82982|0.82982	GGA|TGG		PASS	0.418	DMD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056182.2	NM_004006		28	38	28	38	---	---	---	---
DDX3X	1654	broad.mit.edu	37	X	41204663	41204663	+	Missense_Mutation	SNP	G	G	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chrX:41204663G>A	ENST00000399959.2	+	12	2032	c.1177G>A	c.(1177-1179)Gct>Act	p.A393T	DDX3X_ENST00000457138.2_Missense_Mutation_p.A377T|DDX3X_ENST00000542215.1_3'UTR|DDX3X_ENST00000441189.2_Intron|RN7SL15P_ENST00000582825.1_RNA|DDX3X_ENST00000478993.1_3'UTR	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	393	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.|Interaction with GSK3B.|Necessary for interaction with XPO1.				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.A393T(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						TCAGATGCTGGCTCGTGATTT	0.328										HNSCC(61;0.18)																												uc004dfe.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|breast(2)|central_nervous_system(1)|skin(1)	6						c.(1177-1179)GCT>ACT		DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 3							59.0	54.0	56.0					X																	41204663		1950	4147	6097	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:41204663G>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.1177G>A	X.37:g.41204663G>A	ENSP00000382840:p.Ala393Thr	HNSCC(61;0.18)				DDX3X_uc004dff.2_Missense_Mutation_p.A393T|DDX3X_uc011mkq.1_Missense_Mutation_p.A377T|DDX3X_uc011mkr.1_Missense_Mutation_p.A393T|DDX3X_uc011mks.1_Intron|DDX3X_uc004dfg.2_RNA|DDX3X_uc011mkt.1_RNA	p.A393T	NM_001356	NP_001347	O00571	DDX3X_HUMAN			12	2032	+			393			Necessary for interaction with XPO1.|Helicase ATP-binding.		A8K538|B4E3E8|O15536	Missense_Mutation	SNP	ENST00000399959.2	37	c.1177G>A	CCDS43931.1	.	.	.	.	.	.	.	.	.	.	g	23.1	4.370396	0.82573	.	.	ENSG00000215301	ENST00000399959;ENST00000457138	T;T	0.05717	3.4;3.4	5.17	5.17	0.71159	DEAD-like helicase (2);	0.000000	0.85682	D	0.000000	T	0.25827	0.0629	M	0.70595	2.14	0.80722	D	1	D;D;D;D	0.89917	1.0;0.994;0.958;0.958	D;P;B;B	0.79784	0.993;0.806;0.392;0.392	T	0.01162	-1.1432	10	0.87932	D	0	-16.2307	17.8572	0.88769	0.0:0.0:1.0:0.0	.	393;377;405;393	B4DLU5;B4E3E8;Q59GX6;O00571	.;.;.;DDX3X_HUMAN	T	393;377	ENSP00000382840:A393T;ENSP00000392494:A377T	ENSP00000382840:A393T	A	+	1	0	DDX3X	41089607	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	9.798000	0.99111	2.149000	0.67028	0.525000	0.51046	GCT		PASS	0.328	DDX3X-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056253.1	NM_024005		26	21	26	21	---	---	---	---
NYX	60506	broad.mit.edu	37	X	41333780	41333780	+	Silent	SNP	C	C	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chrX:41333780C>A	ENST00000342595.2	+	2	1530	c.1074C>A	c.(1072-1074)acC>acA	p.T358T	NYX_ENST00000378220.1_Silent_p.T358T	NM_022567.2	NP_072089.1	Q9GZU5	NYX_HUMAN	nyctalopin	358	LRRCT.				response to stimulus (GO:0050896)|visual perception (GO:0007601)	intracellular (GO:0005622)|proteinaceous extracellular matrix (GO:0005578)		p.T358T(1)		NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(11)|upper_aerodigestive_tract(1)	17						GACGTGTCACCGACGTGCCGT	0.701																																						uc004dfh.2																			1	Substitution - coding silent(1)		lung(1)	lung(2)	2						c.(1072-1074)ACC>ACA		nyctalopin precursor							26.0	25.0	25.0					X																	41333780		2200	4299	6499	SO:0001819	synonymous_variant	60506				response to stimulus|visual perception	intracellular|proteinaceous extracellular matrix		g.chrX:41333780C>A	AF254868	CCDS14256.1	Xp11.4	2014-01-28			ENSG00000188937	ENSG00000188937			8082	protein-coding gene	gene with protein product		300278		CSNB1, CSNB4		11062471, 11062472	Standard	NM_022567		Approved	CLRP, CSNB1A	uc004dfh.2	Q9GZU5	OTTHUMG00000021370	ENST00000342595.2:c.1074C>A	X.37:g.41333780C>A						NYX_uc011mku.1_Silent_p.T353T	p.T358T	NM_022567	NP_072089	Q9GZU5	NYX_HUMAN			2	1504	+			358			LRRCT.		D3DWC0|Q2M1S4|Q5H983|Q9H4J0	Silent	SNP	ENST00000342595.2	37	c.1074C>A	CCDS14256.1																																																																																				PASS	0.701	NYX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056256.1	NM_022567		6	5	6	5	---	---	---	---
NDP	4693	broad.mit.edu	37	X	43809127	43809127	+	Missense_Mutation	SNP	C	C	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chrX:43809127C>A	ENST00000378062.5	-	3	727	c.320G>T	c.(319-321)cGg>cTg	p.R107L	NDP_ENST00000470584.1_5'UTR|NDP-AS1_ENST00000435093.1_RNA	NM_000266.3	NP_000257.1	Q00604	NDP_HUMAN	Norrie disease (pseudoglioma)	107	CTCK. {ECO:0000255|PROSITE- ProRule:PRU00039}.				canonical Wnt signaling pathway (GO:0060070)|cell proliferation (GO:0008283)|cell-cell signaling (GO:0007267)|extracellular matrix-cell signaling (GO:0035426)|nervous system development (GO:0007399)|placenta development (GO:0001890)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription, DNA-templated (GO:0045893)|retina vasculature morphogenesis in camera-type eye (GO:0061299)|sensory perception of sound (GO:0007605)|signal transduction (GO:0007165)|vacuole organization (GO:0007033)|visual perception (GO:0007601)|Wnt signaling pathway (GO:0016055)	cell surface (GO:0009986)|extracellular matrix (GO:0031012)|extracellular space (GO:0005615)	frizzled binding (GO:0005109)|growth factor activity (GO:0008083)|protein homodimerization activity (GO:0042803)	p.R107L(1)		kidney(1)|lung(2)	3						GCATCGCAGCCGCAGTGCCTT	0.612											OREG0019744	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc004dga.3																			1	Substitution - Missense(1)		lung(1)		0						c.(319-321)CGG>CTG		norrin precursor							55.0	37.0	43.0					X																	43809127		2199	4299	6498	SO:0001583	missense	4693				canonical Wnt receptor signaling pathway|cell proliferation|cell-cell signaling|nervous system development|positive regulation of transcription, DNA-dependent|sensory perception of sound|vacuole organization|visual perception	extracellular matrix|extracellular space	cell surface binding|frizzled binding|growth factor activity|protein homodimerization activity	g.chrX:43809127C>A	X65882	CCDS14262.1	Xp11.4-p11.3	2013-02-26			ENSG00000124479	ENSG00000124479		"""Endogenous ligands"""	7678	protein-coding gene	gene with protein product		300658	"""exudative vitreoretinopathy 2 (X-linked)"""	EVR2		8252044	Standard	NM_000266		Approved	norrin	uc004dga.3	Q00604	OTTHUMG00000021391	ENST00000378062.5:c.320G>T	X.37:g.43809127C>A	ENSP00000367301:p.Arg107Leu		OREG0019744	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	919		p.R107L	NM_000266	NP_000257	Q00604	NDP_HUMAN			3	899	-			107			CTCK.		B2R8K6|Q5JYH5	Missense_Mutation	SNP	ENST00000378062.5	37	c.320G>T	CCDS14262.1	.	.	.	.	.	.	.	.	.	.	C	18.03	3.531565	0.64972	.	.	ENSG00000124479	ENST00000378062	D	0.89196	-2.48	5.96	5.1	0.69264	Cystine knot (1);Cystine knot, C-terminal (3);	0.058130	0.64402	N	0.000005	D	0.90638	0.7064	L	0.27053	0.805	0.54753	D	0.99998	D	0.69078	0.997	D	0.79784	0.993	D	0.91443	0.5175	10	0.56958	D	0.05	-4.279	15.7924	0.78376	0.1368:0.8632:0.0:0.0	.	107	Q00604	NDP_HUMAN	L	107	ENSP00000367301:R107L	ENSP00000367301:R107L	R	-	2	0	NDP	43694071	1.000000	0.71417	0.073000	0.20177	0.530000	0.34684	5.736000	0.68597	1.268000	0.44264	0.600000	0.82982	CGG		PASS	0.612	NDP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056309.1	NM_000266		5	2	5	2	---	---	---	---
SLC38A5	92745	broad.mit.edu	37	X	48317372	48317372	+	Missense_Mutation	SNP	C	C	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chrX:48317372C>A	ENST00000376876.3	-	16	2209	c.1366G>T	c.(1366-1368)Ggc>Tgc	p.G456C	SLC38A5_ENST00000480105.1_5'Flank|SLC38A5_ENST00000376875.1_Missense_Mutation_p.G405C|SLC38A5_ENST00000317669.5_Missense_Mutation_p.G456C			Q8WUX1	S38A5_HUMAN	solute carrier family 38, member 5	456				G -> S (in Ref. 1; AAK61856). {ECO:0000305}.	amino acid transport (GO:0006865)|ion transport (GO:0006811)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	glycine transmembrane transporter activity (GO:0015187)	p.G456C(1)		breast(1)|cervix(1)|endometrium(6)|large_intestine(2)|lung(5)|ovary(3)|skin(1)	19						AACATAAAGCCTAGACTGACG	0.612																																						uc010nid.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)	3						c.(1366-1368)GGC>TGC		solute carrier family 38, member 5							47.0	38.0	41.0					X																	48317372		2201	4289	6490	SO:0001583	missense	92745				cellular nitrogen compound metabolic process|ion transport	integral to membrane|plasma membrane		g.chrX:48317372C>A	AF276889	CCDS14293.1	Xp11.23	2013-05-22			ENSG00000017483	ENSG00000017483		"""Solute carriers"""	18070	protein-coding gene	gene with protein product		300649				11243884	Standard	NM_033518		Approved	SN2, JM24	uc010nid.3	Q8WUX1	OTTHUMG00000024117	ENST00000376876.3:c.1366G>T	X.37:g.48317372C>A	ENSP00000366073:p.Gly456Cys					SLC38A5_uc004djk.3_Missense_Mutation_p.G405C	p.G456C	NM_033518	NP_277053	Q8WUX1	S38A5_HUMAN			17	1544	-			456	G -> S (in Ref. 1; AAK61856).		Helical; (Potential).		B3KT20|B5MDE6|B7WPJ9|Q6PIW9|Q8WYU2|Q96PQ4	Missense_Mutation	SNP	ENST00000376876.3	37	c.1366G>T	CCDS14293.1	.	.	.	.	.	.	.	.	.	.	c	16.47	3.131982	0.56828	.	.	ENSG00000017483	ENST00000376876;ENST00000376875;ENST00000317669	T;T;T	0.02280	4.36;4.36;4.36	5.08	4.2	0.49525	.	0.202566	0.41194	D	0.000925	T	0.05456	0.0144	L	0.36672	1.1	0.36044	D	0.840302	D	0.62365	0.991	D	0.67231	0.95	T	0.31475	-0.9942	10	0.72032	D	0.01	.	6.1177	0.20136	0.0:0.7845:0.0:0.2155	.	456	Q8WUX1	S38A5_HUMAN	C	456;405;456	ENSP00000366073:G456C;ENSP00000366071:G405C;ENSP00000313740:G456C	ENSP00000313740:G456C	G	-	1	0	SLC38A5	48202316	1.000000	0.71417	0.993000	0.49108	0.773000	0.43773	1.443000	0.35057	2.102000	0.63906	0.523000	0.50628	GGC		PASS	0.612	SLC38A5-011	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060724.1	NM_033518		8	8	8	8	---	---	---	---
ERAS	3266	broad.mit.edu	37	X	48687893	48687893	+	Missense_Mutation	SNP	C	C	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chrX:48687893C>A	ENST00000338270.1	+	1	611	c.360C>A	c.(358-360)ttC>ttA	p.F120L	PCSK1N_ENST00000478242.1_5'Flank	NM_181532.2	NP_853510.1	Q7Z444	RASE_HUMAN	ES cell expressed Ras	120					GTP catabolic process (GO:0006184)|small GTPase mediated signal transduction (GO:0007264)	plasma membrane (GO:0005886)	GTP binding (GO:0005525)	p.F120L(1)		endometrium(2)|large_intestine(1)|lung(9)|prostate(1)|urinary_tract(1)	14						TGGGCGTCTTCGCTCTCGATG	0.632																																						uc004dky.1																			1	Substitution - Missense(1)		lung(1)	lung(4)|urinary_tract(1)	5						c.(358-360)TTC>TTA		ES cell expressed Ras precursor							85.0	67.0	73.0					X																	48687893		2203	4300	6503	SO:0001583	missense	3266				small GTPase mediated signal transduction	intracellular|plasma membrane	GTP binding|GTPase activity	g.chrX:48687893C>A	X00419	CCDS35246.1	Xp11.23	2014-05-09	2003-07-14	2003-07-16	ENSG00000187682	ENSG00000187682			5174	protein-coding gene	gene with protein product		300437	"""v-Ha-ras Harvey rat sarcoma viral oncogene homolog pseudogene"""	HRAS2, HRASP		12774123	Standard	NM_181532		Approved		uc031tjl.1	Q7Z444	OTTHUMG00000059533	ENST00000338270.1:c.360C>A	X.37:g.48687893C>A	ENSP00000339136:p.Phe120Leu						p.F120L	NM_181532	NP_853510	Q7Z444	RASE_HUMAN			1	611	+			120						Missense_Mutation	SNP	ENST00000338270.1	37	c.360C>A	CCDS35246.1	.	.	.	.	.	.	.	.	.	.	c	14.70	2.614744	0.46631	.	.	ENSG00000187682	ENST00000338270	D	0.81739	-1.53	4.84	-7.49	0.01355	Small GTP-binding protein domain (1);	0.000000	0.39341	N	0.001397	T	0.81118	0.4756	M	0.84219	2.685	0.36442	D	0.865568	D	0.59357	0.985	P	0.51974	0.686	D	0.83439	0.0042	10	0.87932	D	0	.	8.8595	0.35249	0.1018:0.2869:0.0:0.6113	.	120	Q7Z444	RASE_HUMAN	L	120	ENSP00000339136:F120L	ENSP00000339136:F120L	F	+	3	2	ERAS	48572837	0.001000	0.12720	0.110000	0.21437	0.062000	0.15995	-2.154000	0.01285	-2.241000	0.00709	-0.906000	0.02833	TTC		PASS	0.632	ERAS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132402.1	NM_181532		83	30	83	30	---	---	---	---
AKAP4	8852	broad.mit.edu	37	X	49958854	49958854	+	Silent	SNP	G	G	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chrX:49958854G>A	ENST00000376056.2	-	5	633	c.483C>T	c.(481-483)aaC>aaT	p.N161N	AKAP4_ENST00000481402.1_5'UTR|AKAP4_ENST00000358526.2_Silent_p.N170N|AKAP4_ENST00000376064.3_Silent_p.N161N|AKAP4_ENST00000376058.2_Silent_p.N161N					A kinase (PRKA) anchor protein 4									p.N170N(1)		NS(2)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(6)|lung(14)|ovary(1)|skin(4)	41	Ovarian(276;0.236)					TTTGAGGTCTGTTCATCAAAT	0.433																																						uc004dow.1																			1	Substitution - coding silent(1)		lung(1)	kidney(3)|central_nervous_system(2)|ovary(1)|lung(1)|skin(1)	8						c.(508-510)AAC>AAT		A-kinase anchor protein 4 isoform 1							244.0	209.0	221.0					X																	49958854		2203	4300	6503	SO:0001819	synonymous_variant	8852				cell projection organization|single fertilization|sperm motility	cAMP-dependent protein kinase complex|cilium|cytoskeleton|microtubule-based flagellum	protein kinase A binding	g.chrX:49958854G>A	AF072756	CCDS14329.1, CCDS14330.1	Xp11.2	2009-03-12			ENSG00000147081	ENSG00000147081		"""A-kinase anchor proteins"""	374	protein-coding gene	gene with protein product	"""A-kinase anchor protein 82 kDa"", ""testis-specific gene HI"", ""protein kinase A anchoring protein 4"", ""cancer/testis antigen 99"""	300185				9822690, 9514854	Standard	NM_003886		Approved	p82, hAKAP82, AKAP82, Fsc1, HI, CT99	uc004dow.1	Q5JQC9	OTTHUMG00000021517	ENST00000376056.2:c.483C>T	X.37:g.49958854G>A						AKAP4_uc004dov.1_Silent_p.N161N|AKAP4_uc010njp.1_5'UTR|AKAP4_uc004dou.1_Silent_p.N161N	p.N170N	NM_003886	NP_003877	Q5JQC9	AKAP4_HUMAN			5	634	-	Ovarian(276;0.236)		170						Silent	SNP	ENST00000376056.2	37	c.510C>T	CCDS14330.1																																																																																				PASS	0.433	AKAP4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056552.1	NM_003886		58	51	58	51	---	---	---	---
MSN	4478	broad.mit.edu	37	X	64951020	64951020	+	Missense_Mutation	SNP	G	G	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chrX:64951020G>T	ENST00000360270.5	+	5	691	c.519G>T	c.(517-519)caG>caT	p.Q173H		NM_002444.2	NP_002435.1	P26038	MOES_HUMAN	moesin	173	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				cellular component movement (GO:0006928)|establishment of endothelial barrier (GO:0061028)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|membrane to membrane docking (GO:0022614)|positive regulation of gene expression (GO:0010628)|regulation of lymphocyte migration (GO:2000401)	apical part of cell (GO:0045177)|apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|blood microparticle (GO:0072562)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|microvillus (GO:0005902)|plasma membrane (GO:0005886)|uropod (GO:0001931)|vesicle (GO:0031982)	cell adhesion molecule binding (GO:0050839)|double-stranded RNA binding (GO:0003725)|protein kinase binding (GO:0019901)|receptor binding (GO:0005102)|structural constituent of cytoskeleton (GO:0005200)	p.Q173H(1)	MSN/ALK(6)	breast(4)|central_nervous_system(3)|endometrium(7)|kidney(5)|large_intestine(6)|lung(11)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1)	43						AGCGGATCCAGGTGTGGCATG	0.537			T	ALK	ALCL																																	uc004dwf.2				Dom	yes		X	Xq11.2-q12	4478	T	moesin			L	ALK		ALCL	MSN/ALK(6)	1	Substitution - Missense(1)		lung(1)	haematopoietic_and_lymphoid_tissue(6)|ovary(3)|lung(1)	10						c.(517-519)CAG>CAT		moesin							111.0	69.0	83.0					X																	64951020		2203	4300	6503	SO:0001583	missense	4478				leukocyte cell-cell adhesion|leukocyte migration|membrane to membrane docking	apical plasma membrane|cytoskeleton|extrinsic to membrane|microvillus membrane|nucleolus	cell adhesion molecule binding|receptor binding|structural constituent of cytoskeleton	g.chrX:64951020G>T	M69066	CCDS14382.1	Xq11.1	2010-10-20			ENSG00000147065	ENSG00000147065			7373	protein-coding gene	gene with protein product		309845				1924289, 7628534	Standard	XM_005262269		Approved		uc004dwf.3	P26038	OTTHUMG00000021723	ENST00000360270.5:c.519G>T	X.37:g.64951020G>T	ENSP00000353408:p.Gln173His						p.Q173H	NM_002444	NP_002435	P26038	MOES_HUMAN			5	717	+			173			FERM.			Missense_Mutation	SNP	ENST00000360270.5	37	c.519G>T	CCDS14382.1	.	.	.	.	.	.	.	.	.	.	G	12.68	2.011977	0.35511	.	.	ENSG00000147065	ENST00000360270	T	0.77877	-1.13	5.8	3.12	0.35913	Band 4.1 domain (1);FERM central domain (2);FERM domain (1);FERM/acyl-CoA-binding protein, 3-helical bundle (1);	0.049277	0.85682	D	0.000000	T	0.71888	0.3393	M	0.71581	2.175	0.58432	D	0.999994	B	0.14012	0.009	B	0.15052	0.012	T	0.64433	-0.6409	10	0.52906	T	0.07	.	4.9357	0.13939	0.2397:0.0:0.613:0.1472	.	173	P26038	MOES_HUMAN	H	173	ENSP00000353408:Q173H	ENSP00000353408:Q173H	Q	+	3	2	MSN	64867745	1.000000	0.71417	1.000000	0.80357	0.952000	0.60782	1.334000	0.33827	0.235000	0.21160	-0.881000	0.02953	CAG		PASS	0.537	MSN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056981.1	NM_002444		7	6	7	6	---	---	---	---
FAM155B	27112	broad.mit.edu	37	X	68749658	68749658	+	Silent	SNP	C	C	G			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chrX:68749658C>G	ENST00000252338.4	+	3	1320	c.1278C>G	c.(1276-1278)ctC>ctG	p.L426L		NM_015686.2	NP_056501.2	O75949	F155B_HUMAN	family with sequence similarity 155, member B	427						integral component of membrane (GO:0016021)		p.L426L(1)		autonomic_ganglia(1)|breast(2)|endometrium(4)|large_intestine(2)|lung(4)|ovary(2)|pancreas(1)	16						GCTCCCGCCTCAGCCCTAGCA	0.627																																						uc004dxk.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|breast(1)	2						c.(1276-1278)CTC>CTG		transmembrane protein 28							96.0	74.0	82.0					X																	68749658		2203	4300	6503	SO:0001819	synonymous_variant	27112					integral to membrane		g.chrX:68749658C>G	AF087142	CCDS35317.1	Xq13.1	2008-04-15	2008-04-15	2008-04-15	ENSG00000130054	ENSG00000130054			30701	protein-coding gene	gene with protein product			"""transmembrane protein 28"", ""chromosome X open reading frame 63"""	TMEM28, CXorf63			Standard	NM_015686		Approved	TED	uc004dxk.3	O75949	OTTHUMG00000021756	ENST00000252338.4:c.1278C>G	X.37:g.68749658C>G							p.L426L	NM_015686	NP_056501	O75949	F155B_HUMAN			3	1326	+			427					B1ALV6|B9EGK1|D3DVU1	Silent	SNP	ENST00000252338.4	37	c.1278C>G	CCDS35317.1																																																																																				PASS	0.627	FAM155B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057037.1	NM_015686		29	9	29	9	---	---	---	---
RGAG4	340526	broad.mit.edu	37	X	71350437	71350437	+	Silent	SNP	C	C	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chrX:71350437C>A	ENST00000545866.1	-	1	1321	c.954G>T	c.(952-954)ccG>ccT	p.P318P	RGAG4_ENST00000609883.1_Silent_p.P318P|NHSL2_ENST00000540800.1_Intron	NM_001024455.3	NP_001019626.1	Q5HYW3	RGAG4_HUMAN	retrotransposon gag domain containing 4	318								p.P391P(1)		cervix(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(8)|ovary(3)|skin(1)	24	Renal(35;0.156)					CTCCAGGGAGCGGGATAGGCT	0.473																																						uc010nlh.1																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|skin(1)	3						c.(952-954)CCG>CCT		retrotransposon gag domain containing 4							107.0	100.0	102.0					X																	71350437		1923	4130	6053	SO:0001819	synonymous_variant	340526							g.chrX:71350437C>A	AB082532	CCDS55446.1	Xq13.1	2008-02-05			ENSG00000242732	ENSG00000242732			29430	protein-coding gene	gene with protein product						12056414, 15716091, 16093683	Standard	NM_001024455		Approved	KIAA2001, Mar5, Mart5	uc004eaj.2	Q5HYW3	OTTHUMG00000021808	ENST00000545866.1:c.954G>T	X.37:g.71350437C>A						NHSL2_uc011mqa.1_Intron|RGAG4_uc004eaj.1_RNA	p.P318P	NM_001024455	NP_001019626	Q5HYW3	RGAG4_HUMAN			1	1315	-	Renal(35;0.156)		318					A7E2W7|Q8NCM4|Q9NPX1	Silent	SNP	ENST00000545866.1	37	c.954G>T	CCDS55446.1																																																																																				PASS	0.473	RGAG4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057171.1	NM_001024455		82	47	82	47	---	---	---	---
TSIX	9383	broad.mit.edu	37	X	73045196	73045196	+	lincRNA	SNP	T	T	C			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chrX:73045196T>C	ENST00000604411.1	+	0	33157				XIST_ENST00000429829.1_lincRNA	NR_003255.2				TSIX transcript, XIST antisense RNA																		AGCACTTTTTTATGCTTGCTC	0.323																																						uc004ebn.2																			0					0								Homo sapiens XIST antisense RNA (non-protein coding) (TSIX), non-coding RNA.							47.0	49.0	48.0					X																	73045196		876	1990	2866			9383							g.chrX:73045196T>C			Xq13.2	2012-10-19	2012-08-15			ENSG00000270641		"""Long non-coding RNAs"", ""-"""	12377	non-coding RNA	RNA, long non-coding	"""XIST antisense RNA (non-protein coding)"", ""long intergenic non-protein coding RNA 13"""	300181	"""X (inactive)-specific transcript, antisense"", ""TSIX transcript, XIST antisense RNA (non-protein coding)"""			10192391	Standard	NR_003255		Approved	NCRNA00013, XIST-AS1, LINC00013	uc004ebn.2				X.37:g.73045196T>C						XIST_uc004ebm.1_RNA		NR_003255						1		+									RNA	SNP	ENST00000604411.1	37	c.33157T>C																																																																																					PASS	0.323	TSIX-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000469120.1	NR_003255		38	17	38	17	---	---	---	---
TSIX	9383	broad.mit.edu	37	X	73046296	73046296	+	lincRNA	SNP	T	T	C			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chrX:73046296T>C	ENST00000604411.1	+	0	34257				XIST_ENST00000429829.1_lincRNA	NR_003255.2				TSIX transcript, XIST antisense RNA																		GCCTAACAAATAGGTAAAAGC	0.378																																						uc004ebn.2																			0					0								Homo sapiens XIST antisense RNA (non-protein coding) (TSIX), non-coding RNA.							34.0	33.0	33.0					X																	73046296		876	1991	2867			9383							g.chrX:73046296T>C			Xq13.2	2012-10-19	2012-08-15			ENSG00000270641		"""Long non-coding RNAs"", ""-"""	12377	non-coding RNA	RNA, long non-coding	"""XIST antisense RNA (non-protein coding)"", ""long intergenic non-protein coding RNA 13"""	300181	"""X (inactive)-specific transcript, antisense"", ""TSIX transcript, XIST antisense RNA (non-protein coding)"""			10192391	Standard	NR_003255		Approved	NCRNA00013, XIST-AS1, LINC00013	uc004ebn.2				X.37:g.73046296T>C						XIST_uc004ebm.1_RNA		NR_003255						1		+									RNA	SNP	ENST00000604411.1	37	c.34257T>C																																																																																					PASS	0.378	TSIX-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000469120.1	NR_003255		13	11	13	11	---	---	---	---
TSIX	9383	broad.mit.edu	37	X	73047135	73047135	+	lincRNA	SNP	C	C	A	rs376753224		TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chrX:73047135C>A	ENST00000604411.1	+	0	35096				XIST_ENST00000429829.1_lincRNA	NR_003255.2				TSIX transcript, XIST antisense RNA																		CACACACACACGTACACTTGC	0.463																																						uc004ebn.2																			0					0								Homo sapiens XIST antisense RNA (non-protein coding) (TSIX), non-coding RNA.							139.0	123.0	128.0					X																	73047135		876	1991	2867			9383							g.chrX:73047135C>A			Xq13.2	2012-10-19	2012-08-15			ENSG00000270641		"""Long non-coding RNAs"", ""-"""	12377	non-coding RNA	RNA, long non-coding	"""XIST antisense RNA (non-protein coding)"", ""long intergenic non-protein coding RNA 13"""	300181	"""X (inactive)-specific transcript, antisense"", ""TSIX transcript, XIST antisense RNA (non-protein coding)"""			10192391	Standard	NR_003255		Approved	NCRNA00013, XIST-AS1, LINC00013	uc004ebn.2				X.37:g.73047135C>A						XIST_uc004ebm.1_RNA		NR_003255						1		+									RNA	SNP	ENST00000604411.1	37	c.35096C>A																																																																																					PASS	0.463	TSIX-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000469120.1	NR_003255		93	27	93	27	---	---	---	---
XIST	7503	broad.mit.edu	37	X	73071059	73071059	+	lincRNA	SNP	G	G	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chrX:73071059G>T	ENST00000429829.1	-	0	1529					NR_001564.2				X inactive specific transcript (non-protein coding)																		TTAACAATGCGGCAAGCCCGC	0.517																																						uc004ebm.1																			0					0								Homo sapiens cDNA: FLJ21545 fis, clone COL06195.							117.0	112.0	114.0					X																	73071059		876	1991	2867			7503							g.chrX:73071059G>T	M97168		Xq13.2	2013-12-18	2013-02-07		ENSG00000229807	ENSG00000229807		"""Long non-coding RNAs"", ""-"""	12810	non-coding RNA	RNA, long non-coding	"""long intergenic non-protein coding RNA 1"""	314670	"""X (inactive)-specific transcript"", ""X (inactive)-specific transcript (non-protein coding)"""	DXS399E		1985261, 2034279	Standard	NR_001564		Approved	NCRNA00001, DXS1089, swd66, LINC00001	uc004ebm.2		OTTHUMG00000021839		X.37:g.73071059G>T								NR_001564						1		-									RNA	SNP	ENST00000429829.1	37	c.1530C>A																																																																																					PASS	0.517	XIST-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000057239.1	NR_001564		65	23	65	23	---	---	---	---
ATP7A	538	broad.mit.edu	37	X	77284912	77284912	+	Missense_Mutation	SNP	G	G	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chrX:77284912G>T	ENST00000341514.6	+	15	3237	c.3082G>T	c.(3082-3084)Ggt>Tgt	p.G1028C	ATP7A_ENST00000343533.5_Missense_Mutation_p.G950C|ATP7A_ENST00000350425.4_Intron	NM_000052.5	NP_000043.4	Q04656	ATP7A_HUMAN	ATPase, Cu++ transporting, alpha polypeptide	1028					blood vessel development (GO:0001568)|blood vessel remodeling (GO:0001974)|cartilage development (GO:0051216)|catecholamine metabolic process (GO:0006584)|cellular copper ion homeostasis (GO:0006878)|central nervous system neuron development (GO:0021954)|cerebellar Purkinje cell differentiation (GO:0021702)|collagen fibril organization (GO:0030199)|copper ion export (GO:0060003)|copper ion import (GO:0015677)|copper ion transport (GO:0006825)|dendrite morphogenesis (GO:0048813)|detoxification of copper ion (GO:0010273)|dopamine metabolic process (GO:0042417)|elastic fiber assembly (GO:0048251)|elastin biosynthetic process (GO:0051542)|epinephrine metabolic process (GO:0042414)|extracellular matrix organization (GO:0030198)|hair follicle morphogenesis (GO:0031069)|in utero embryonic development (GO:0001701)|ion transmembrane transport (GO:0034220)|lactation (GO:0007595)|locomotory behavior (GO:0007626)|lung alveolus development (GO:0048286)|mitochondrion organization (GO:0007005)|negative regulation of metalloenzyme activity (GO:0048553)|negative regulation of neuron apoptotic process (GO:0043524)|neuron projection morphogenesis (GO:0048812)|norepinephrine biosynthetic process (GO:0042421)|norepinephrine metabolic process (GO:0042415)|peptidyl-lysine modification (GO:0018205)|pigmentation (GO:0043473)|positive regulation of catalytic activity (GO:0043085)|positive regulation of metalloenzyme activity (GO:0048554)|positive regulation of oxidoreductase activity (GO:0051353)|pyramidal neuron development (GO:0021860)|regulation of gene expression (GO:0010468)|regulation of oxidative phosphorylation (GO:0002082)|release of cytochrome c from mitochondria (GO:0001836)|removal of superoxide radicals (GO:0019430)|response to iron(III) ion (GO:0010041)|response to zinc ion (GO:0010043)|serotonin metabolic process (GO:0042428)|skin development (GO:0043588)|T-helper cell differentiation (GO:0042093)|transmembrane transport (GO:0055085)|tryptophan metabolic process (GO:0006568)|tyrosine metabolic process (GO:0006570)	basolateral plasma membrane (GO:0016323)|brush border membrane (GO:0031526)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|membrane (GO:0016020)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|secretory granule (GO:0030141)|trans-Golgi network (GO:0005802)|trans-Golgi network transport vesicle (GO:0030140)	ATP binding (GO:0005524)|copper ion binding (GO:0005507)|copper ion transmembrane transporter activity (GO:0005375)|copper-dependent protein binding (GO:0032767)|copper-exporting ATPase activity (GO:0004008)|superoxide dismutase copper chaperone activity (GO:0016532)	p.G1028C(2)		breast(4)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(26)|pancreas(1)|prostate(1)|urinary_tract(1)	53					Carboplatin(DB00958)|Cisplatin(DB00515)|Oxaliplatin(DB00526)	ACTAATAAAAGGTGGAGAGCC	0.473																																						uc004ecx.3																			2	Substitution - Missense(2)		lung(2)		0						c.(3082-3084)GGT>TGT		ATPase, Cu++ transporting, alpha polypeptide							101.0	88.0	93.0					X																	77284912		2203	4296	6499	SO:0001583	missense	538				ATP biosynthetic process|blood vessel development|blood vessel remodeling|cartilage development|cellular copper ion homeostasis|cerebellar Purkinje cell differentiation|collagen fibril organization|copper ion import|detoxification of copper ion|dopamine metabolic process|elastic fiber assembly|elastin biosynthetic process|epinephrine metabolic process|hair follicle morphogenesis|locomotory behavior|lung alveolus development|negative regulation of metalloenzyme activity|neuroprotection|peptidyl-lysine modification|pigmentation|positive regulation of metalloenzyme activity|positive regulation of oxidoreductase activity|pyramidal neuron development|regulation of oxidative phosphorylation|removal of superoxide radicals|serotonin metabolic process|skin development|T-helper cell differentiation|tryptophan metabolic process	basolateral plasma membrane|cytosol|endoplasmic reticulum|endoplasmic reticulum|integral to membrane|late endosome|neuron projection|neuronal cell body|perinuclear region of cytoplasm|trans-Golgi network|trans-Golgi network transport vesicle	ATP binding|copper-dependent protein binding|copper-exporting ATPase activity|superoxide dismutase copper chaperone activity	g.chrX:77284912G>T	L06133	CCDS35339.1, CCDS75997.1	Xq21.1	2012-10-22	2008-07-31		ENSG00000165240	ENSG00000165240	3.6.3.4	"""ATPases / P-type"""	869	protein-coding gene	gene with protein product	"""copper pump 1"", ""copper-transporting ATPase 1"""	300011	"""Menkes syndrome"""	MNK		10079817	Standard	NM_000052		Approved		uc004ecx.4	Q04656	OTTHUMG00000021885	ENST00000341514.6:c.3082G>T	X.37:g.77284912G>T	ENSP00000345728:p.Gly1028Cys						p.G1028C	NM_000052	NP_000043	Q04656	ATP7A_HUMAN			15	3242	+			1028			Cytoplasmic (Potential).		B1AT72|O00227|O00745|Q9BYY8	Missense_Mutation	SNP	ENST00000341514.6	37	c.3082G>T	CCDS35339.1	.	.	.	.	.	.	.	.	.	.	G	26.8	4.769291	0.90020	.	.	ENSG00000165240	ENST00000343533;ENST00000341514	D;D	0.88975	-2.45;-2.45	5.95	5.95	0.96441	ATPase, P-type, ATPase-associated domain (1);	0.000000	0.85682	D	0.000000	D	0.96778	0.8948	H	0.96805	3.885	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.97808	1.0249	10	0.87932	D	0	-2.1059	19.2627	0.93974	0.0:0.0:1.0:0.0	.	1028	Q04656	ATP7A_HUMAN	C	950;1028	ENSP00000343026:G950C;ENSP00000345728:G1028C	ENSP00000345728:G1028C	G	+	1	0	ATP7A	77171568	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.869000	0.99810	2.501000	0.84356	0.513000	0.50165	GGT		PASS	0.473	ATP7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057306.1	NM_000052		66	30	66	30	---	---	---	---
ZCCHC5	203430	broad.mit.edu	37	X	77913754	77913754	+	Missense_Mutation	SNP	G	G	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chrX:77913754G>T	ENST00000321110.1	-	2	459	c.164C>A	c.(163-165)tCc>tAc	p.S55Y		NM_152694.2	NP_689907.1	Q8N8U3	ZCHC5_HUMAN	zinc finger, CCHC domain containing 5	55							nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)	p.S55Y(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(18)|ovary(1)|prostate(1)|skin(1)	37						GGCCTCTGAGGACTTTCGGAG	0.567																																						uc004edc.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(163-165)TCC>TAC		zinc finger, CCHC domain containing 5							36.0	32.0	33.0					X																	77913754		2203	4300	6503	SO:0001583	missense	203430						nucleic acid binding|zinc ion binding	g.chrX:77913754G>T	AK096184	CCDS14440.1	Xq13.3	2008-02-05			ENSG00000179300	ENSG00000179300		"""Zinc fingers, CCHC domain containing"""	22997	protein-coding gene	gene with protein product						15716091, 16093683	Standard	NM_152694		Approved	FLJ38865, Mar3, Mart3, ZHC5	uc004edc.1	Q8N8U3	OTTHUMG00000021892	ENST00000321110.1:c.164C>A	X.37:g.77913754G>T	ENSP00000316794:p.Ser55Tyr						p.S55Y	NM_152694	NP_689907	Q8N8U3	ZCHC5_HUMAN			2	460	-			55					B2RMZ0|Q5JQE9	Missense_Mutation	SNP	ENST00000321110.1	37	c.164C>A	CCDS14440.1	.	.	.	.	.	.	.	.	.	.	G	9.102	1.004460	0.19199	.	.	ENSG00000179300	ENST00000321110	T	0.20200	2.09	3.65	1.82	0.25136	.	.	.	.	.	T	0.10423	0.0255	N	0.14661	0.345	0.09310	N	1	B	0.29432	0.244	B	0.20955	0.032	T	0.25328	-1.0135	9	0.72032	D	0.01	.	4.4279	0.11513	0.1178:0.0:0.4944:0.3878	.	55	Q8N8U3	ZCHC5_HUMAN	Y	55	ENSP00000316794:S55Y	ENSP00000316794:S55Y	S	-	2	0	ZCCHC5	77800410	0.000000	0.05858	0.001000	0.08648	0.012000	0.07955	-0.235000	0.09016	0.183000	0.20059	0.422000	0.28245	TCC		PASS	0.567	ZCCHC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057319.1	NM_152694		21	13	21	13	---	---	---	---
NAP1L3	4675	broad.mit.edu	37	X	92927476	92927476	+	Silent	SNP	T	T	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chrX:92927476T>A	ENST00000373079.3	-	1	1091	c.828A>T	c.(826-828)gcA>gcT	p.A276A	FAM133A_ENST00000538690.1_5'Flank|FAM133A_ENST00000322139.4_5'Flank|NAP1L3_ENST00000475430.2_Silent_p.A269A|FAM133A_ENST00000332647.4_5'Flank|FAM133A_ENST00000355813.5_5'Flank	NM_004538.5	NP_004529.2	Q99457	NP1L3_HUMAN	nucleosome assembly protein 1-like 3	276					nucleosome assembly (GO:0006334)	nucleus (GO:0005634)		p.A276A(1)		haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(16)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	34						TCTCTCTTACTGCAGCCCTTG	0.448																																						uc004efq.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|skin(1)	2						c.(826-828)GCA>GCT		nucleosome assembly protein 1-like 3							116.0	108.0	111.0					X																	92927476		2203	4300	6503	SO:0001819	synonymous_variant	4675				nucleosome assembly	chromatin assembly complex		g.chrX:92927476T>A		CCDS14465.1	Xq21.3-q22	2008-08-01			ENSG00000186310	ENSG00000186310			7639	protein-coding gene	gene with protein product		300117				8976385	Standard	NM_004538		Approved	MB20, NPL3, MGC26312	uc004efq.3	Q99457	OTTHUMG00000021974	ENST00000373079.3:c.828A>T	X.37:g.92927476T>A						FAM133A_uc004efr.1_5'Flank	p.A276A	NM_004538	NP_004529	Q99457	NP1L3_HUMAN			1	1133	-			276					B2RCM0|O60788	Silent	SNP	ENST00000373079.3	37	c.828A>T	CCDS14465.1																																																																																				PASS	0.448	NAP1L3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057449.1	NM_004538		94	45	94	45	---	---	---	---
BTK	695	broad.mit.edu	37	X	100611135	100611135	+	Missense_Mutation	SNP	G	G	C			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chrX:100611135G>C	ENST00000308731.7	-	15	1634	c.1471C>G	c.(1471-1473)Cac>Gac	p.H491D	BTK_ENST00000372880.1_Intron	NM_000061.2	NP_000052.1	Q06187	BTK_HUMAN	Bruton agammaglobulinemia tyrosine kinase	491	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				adaptive immune response (GO:0002250)|apoptotic signaling pathway (GO:0097190)|B cell activation (GO:0042113)|B cell receptor signaling pathway (GO:0050853)|calcium-mediated signaling (GO:0019722)|cell maturation (GO:0048469)|Fc-epsilon receptor signaling pathway (GO:0038095)|histamine secretion by mast cell (GO:0002553)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|mesoderm development (GO:0007498)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|positive regulation of B cell differentiation (GO:0045579)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of B cell apoptotic process (GO:0002902)|regulation of B cell cytokine production (GO:0002721)|response to organic substance (GO:0010033)|response to reactive oxygen species (GO:0000302)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|mast cell granule (GO:0042629)|membrane raft (GO:0045121)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|protein tyrosine kinase activity (GO:0004713)	p.H491Y(1)|p.H491D(1)		breast(4)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(25)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	50						TGGAAGCGGTGGCGCATCTCC	0.557									Agammaglobulinemia, X-linked																													uc004ehg.2																			2	Substitution - Missense(2)	p.H491Y(1)	lung(1)|central_nervous_system(1)	lung(3)|central_nervous_system(2)|ovary(1)	6						c.(1471-1473)CAC>GAC		Bruton agammaglobulinemia tyrosine kinase							110.0	88.0	96.0					X																	100611135		2203	4300	6503	SO:0001583	missense	695	Agammaglobulinemia_X-linked	Familial Cancer Database	Bruton Type Agammaglobulinemia	calcium-mediated signaling|induction of apoptosis by extracellular signals|mesoderm development	cytosol|membrane raft|nucleus|plasma membrane	ATP binding|identical protein binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|phosphatidylinositol-3,4,5-trisphosphate binding	g.chrX:100611135G>C	AK057105	CCDS14482.1, CCDS76002.1, CCDS76003.1	Xq21.33-q22	2014-09-17			ENSG00000010671	ENSG00000010671	2.7.10.1	"""Pleckstrin homology (PH) domain containing"", ""SH2 domain containing"""	1133	protein-coding gene	gene with protein product		300300		AGMX1, IMD1		8380905	Standard	NM_000061		Approved	ATK, XLA, PSCTK1	uc004ehg.2	Q06187	OTTHUMG00000022022	ENST00000308731.7:c.1471C>G	X.37:g.100611135G>C	ENSP00000308176:p.His491Asp					BTK_uc004ehf.2_Intron|BTK_uc010nnh.2_Intron|BTK_uc010nni.2_Intron|BTK_uc004ehe.2_Intron|BTK_uc010nnj.2_RNA|BTK_uc010nnk.2_Intron|BTK_uc010nnl.2_Intron|BTK_uc010nnm.2_Missense_Mutation_p.H61D|BTK_uc010nnn.2_Intron|BTK_uc010nno.2_Missense_Mutation_p.H525D|BTK_uc004ehh.1_Intron|BTK_uc004ehi.2_Missense_Mutation_p.H491D	p.H491D	NM_000061	NP_000052	Q06187	BTK_HUMAN			15	1664	-			491			Protein kinase.		B2RAW1|Q32ML5	Missense_Mutation	SNP	ENST00000308731.7	37	c.1471C>G	CCDS14482.1	.	.	.	.	.	.	.	.	.	.	G	11.61	1.690150	0.29962	.	.	ENSG00000010671	ENST00000443591;ENST00000308731	D	0.81908	-1.55	5.49	3.67	0.42095	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.343016	0.34628	N	0.003819	T	0.72145	0.3424	N	0.16567	0.415	0.27524	N	0.95131	B;B;B;B	0.24043	0.007;0.001;0.016;0.096	B;B;B;B	0.33254	0.04;0.001;0.16;0.099	T	0.63800	-0.6555	10	0.48119	T	0.1	.	9.4688	0.38829	0.0:0.1362:0.5759:0.2878	.	162;162;491;491	Q3MS94;Q3MS96;B2RAW1;Q06187	.;.;.;BTK_HUMAN	D	162;491	ENSP00000308176:H491D	ENSP00000308176:H491D	H	-	1	0	BTK	100497791	0.997000	0.39634	0.991000	0.47740	0.997000	0.91878	1.615000	0.36922	0.468000	0.27243	0.600000	0.82982	CAC		PASS	0.557	BTK-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057532.2	NM_000061		56	29	56	29	---	---	---	---
ARMCX5	64860	broad.mit.edu	37	X	101857624	101857624	+	Missense_Mutation	SNP	G	G	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chrX:101857624G>T	ENST00000604957.1	+	1	3177	c.555G>T	c.(553-555)tgG>tgT	p.W185C	ARMCX5_ENST00000537008.1_Missense_Mutation_p.W185C|ARMCX5_ENST00000372742.1_Missense_Mutation_p.W185C|ARMCX5_ENST00000246174.2_Missense_Mutation_p.W185C|ARMCX5_ENST00000536530.1_Missense_Mutation_p.W185C|RP4-769N13.7_ENST00000602441.1_RNA|ARMCX5_ENST00000541409.1_Missense_Mutation_p.W185C|RP4-769N13.6_ENST00000476910.2_RNA	NM_001168478.1	NP_001161950.1	Q6P1M9	ARMX5_HUMAN	armadillo repeat containing, X-linked 5	185								p.W185C(1)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(7)|ovary(1)|upper_aerodigestive_tract(2)	22						TAGGGTCCTGGTTCTGGCCTG	0.468																																						uc004ejg.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(553-555)TGG>TGT		armadillo repeat containing, X-linked 5							126.0	129.0	128.0					X																	101857624		2201	4300	6501	SO:0001583	missense	64860						binding	g.chrX:101857624G>T		CCDS14500.1	Xq22.1-q22.3	2014-03-21			ENSG00000125962	ENSG00000125962		"""Armadillo repeat containing"""	25772	protein-coding gene	gene with protein product						16221301, 22569362	Standard	NM_022838		Approved	FLJ12969, GASP5	uc004ejh.3	Q6P1M9	OTTHUMG00000022062	ENST00000604957.1:c.555G>T	X.37:g.101857624G>T	ENSP00000474720:p.Trp185Cys					ARMCX5_uc004ejh.2_Missense_Mutation_p.W185C	p.W185C	NM_022838	NP_073749	Q6P1M9	ARMX5_HUMAN			6	1436	+			185					B3KU88|D3DX99|Q68DB4|Q9BVZ3|Q9H969	Missense_Mutation	SNP	ENST00000604957.1	37	c.555G>T	CCDS14500.1	.	.	.	.	.	.	.	.	.	.	G	13.03	2.116298	0.37339	.	.	ENSG00000125962	ENST00000246174;ENST00000537008;ENST00000541409;ENST00000536530;ENST00000372742	T;T;T;T;T	0.25250	1.81;1.81;1.81;1.81;1.81	3.59	3.59	0.41128	.	0.194554	0.25958	N	0.027206	T	0.16514	0.0397	L	0.29908	0.895	0.50171	D	0.99985	P	0.41978	0.767	B	0.37780	0.258	T	0.02161	-1.1203	10	0.56958	D	0.05	-3.0791	7.6196	0.28177	0.0:0.0:0.7475:0.2525	.	185	Q6P1M9	ARMX5_HUMAN	C	185	ENSP00000246174:W185C;ENSP00000439001:W185C;ENSP00000446385:W185C;ENSP00000445851:W185C;ENSP00000361827:W185C	ENSP00000246174:W185C	W	+	3	0	ARMCX5	101744280	1.000000	0.71417	1.000000	0.80357	0.857000	0.48899	2.913000	0.48790	2.069000	0.61940	0.600000	0.82982	TGG		PASS	0.468	ARMCX5-013	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000469659.1	NM_022838		85	50	85	50	---	---	---	---
GPRASP1	9737	broad.mit.edu	37	X	101909360	101909360	+	Silent	SNP	G	G	C			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chrX:101909360G>C	ENST00000361600.5	+	5	1320	c.519G>C	c.(517-519)ggG>ggC	p.G173G	GPRASP1_ENST00000415986.1_Silent_p.G173G|GPRASP1_ENST00000444152.1_Silent_p.G173G|GPRASP1_ENST00000537097.1_Silent_p.G173G|RP4-769N13.7_ENST00000602441.1_RNA	NM_014710.4	NP_055525.3	Q5JY77	GASP1_HUMAN	G protein-coupled receptor associated sorting protein 1	173					endosome to lysosome transport (GO:0008333)|G-protein coupled receptor catabolic process (GO:1990172)	cytoplasm (GO:0005737)		p.G173G(1)		NS(1)|breast(3)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(10)|lung(29)|ovary(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						CCAATATGGGGTCCTGGTGCT	0.463																																						uc004ejj.3																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|lung(1)	2						c.(517-519)GGG>GGC		G protein-coupled receptor associated sorting							79.0	81.0	80.0					X																	101909360		2203	4299	6502	SO:0001819	synonymous_variant	9737					cytoplasm	protein binding	g.chrX:101909360G>C	AB007903	CCDS35352.1	Xq22.1	2014-03-21			ENSG00000198932	ENSG00000198932		"""Armadillo repeat containing"""	24834	protein-coding gene	gene with protein product		300417				9455477, 15086532, 16221301	Standard	NM_014710		Approved	GASP, GASP1	uc010nod.3	Q5JY77	OTTHUMG00000022061	ENST00000361600.5:c.519G>C	X.37:g.101909360G>C						GPRASP1_uc004eji.3_Silent_p.G173G|GPRASP1_uc010nod.2_Silent_p.G173G	p.G173G	NM_014710	NP_055525	Q5JY77	GASP1_HUMAN			5	1320	+			173					O43168|Q96LA1	Silent	SNP	ENST00000361600.5	37	c.519G>C	CCDS35352.1																																																																																				PASS	0.463	GPRASP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057634.2	NM_014710		104	39	104	39	---	---	---	---
H2BFWT	158983	broad.mit.edu	37	X	103268110	103268110	+	Missense_Mutation	SNP	C	C	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chrX:103268110C>A	ENST00000217926.5	-	1	149	c.123G>T	c.(121-123)caG>caT	p.Q41H	H2BFM_ENST00000243297.5_5'Flank	NM_001002916.3	NP_001002916.3	Q7Z2G1	H2BWT_HUMAN	H2B histone family, member W, testis-specific	41						membrane (GO:0016020)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)	p.Q41H(1)		breast(2)|endometrium(3)|large_intestine(2)|lung(7)|ovary(1)|upper_aerodigestive_tract(1)	16						GGGTGATCAGCTGTTCCTCAG	0.627																																						uc004elr.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(121-123)CAG>CAT		H2B histone family, member W, testis-specific							78.0	61.0	67.0					X																	103268110		2203	4300	6503	SO:0001583	missense	158983				nucleosome assembly	nuclear membrane|nucleosome	DNA binding	g.chrX:103268110C>A	BC038109	CCDS35362.1	Xq22.2	2011-01-27			ENSG00000123569	ENSG00000123569		"""Histones / Replication-independent"""	27252	protein-coding gene	gene with protein product		300507				12477932	Standard	NM_001002916		Approved		uc004elr.3	Q7Z2G1	OTTHUMG00000022120	ENST00000217926.5:c.123G>T	X.37:g.103268110C>A	ENSP00000354723:p.Gln41His						p.Q41H	NM_001002916	NP_001002916	Q7Z2G1	H2BWT_HUMAN			1	147	-			41					B1AK72|Q147W3	Missense_Mutation	SNP	ENST00000217926.5	37	c.123G>T	CCDS35362.1	.	.	.	.	.	.	.	.	.	.	.	5.484	0.274238	0.10403	.	.	ENSG00000123569	ENST00000217926	T	0.24908	1.83	2.39	-4.05	0.03998	.	.	.	.	.	T	0.09555	0.0235	N	0.19112	0.55	0.09310	N	1	P	0.36944	0.574	B	0.31751	0.135	T	0.25047	-1.0143	9	0.13853	T	0.58	.	2.0912	0.03657	0.2878:0.4203:0.1546:0.1373	.	41	Q7Z2G1	H2BWT_HUMAN	H	41	ENSP00000354723:Q41H	ENSP00000354723:Q41H	Q	-	3	2	H2BFWT	103154766	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.107000	0.03316	-1.544000	0.01721	-0.918000	0.02743	CAG		PASS	0.627	H2BFWT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057756.2	NM_001002916		38	54	38	54	---	---	---	---
CAPN6	827	broad.mit.edu	37	X	110491797	110491797	+	Splice_Site	SNP	C	C	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chrX:110491797C>A	ENST00000324068.1	-	10	1651	c.1484G>T	c.(1483-1485)aGg>aTg	p.R495M	CAPN6_ENST00000541758.1_Splice_Site_p.R240M	NM_014289.3	NP_055104.2	Q9Y6Q1	CAN6_HUMAN	calpain 6	495	Domain III.				microtubule bundle formation (GO:0001578)|proteolysis (GO:0006508)|regulation of cytoskeleton organization (GO:0051493)	perinuclear region of cytoplasm (GO:0048471)|spindle microtubule (GO:0005876)	calcium-dependent cysteine-type endopeptidase activity (GO:0004198)|microtubule binding (GO:0008017)	p.R495M(1)		cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(25)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	47						GAAACTGAACCTGAGCTGGAC	0.507																																						uc004epc.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)|upper_aerodigestive_tract(1)|large_intestine(1)|lung(1)|skin(1)	6						c.(1483-1485)AGG>ATG		calpain 6							58.0	53.0	55.0					X																	110491797		2203	4300	6503	SO:0001630	splice_region_variant	827				microtubule bundle formation|proteolysis|regulation of cytoskeleton organization	perinuclear region of cytoplasm|spindle microtubule	calcium-dependent cysteine-type endopeptidase activity|microtubule binding	g.chrX:110491797C>A	AF029232	CCDS14555.1	Xq23	2008-07-29			ENSG00000077274	ENSG00000077274			1483	protein-coding gene	gene with protein product		300146				9503024, 9339374	Standard	NM_014289		Approved	CAPNX, CalpM, CANPX	uc004epc.2	Q9Y6Q1	OTTHUMG00000022203	ENST00000324068.1:c.1484+1G>T	X.37:g.110491797C>A						CAPN6_uc011msu.1_Missense_Mutation_p.R240M	p.R495M	NM_014289	NP_055104	Q9Y6Q1	CAN6_HUMAN			10	1652	-			495			Domain III.		D3DUY7|Q9UEQ1|Q9UJA8	Missense_Mutation	SNP	ENST00000324068.1	37	c.1484G>T	CCDS14555.1	.	.	.	.	.	.	.	.	.	.	C	18.34	3.602367	0.66445	.	.	ENSG00000077274	ENST00000324068;ENST00000541758	D;D	0.88277	-2.36;-2.36	5.97	5.97	0.96955	Peptidase C2, calpain, large subunit, domain III (1);Peptidase C2, calpain, domain III (1);	0.000000	0.51477	D	0.000089	D	0.89213	0.6651	L	0.34521	1.04	0.51482	D	0.999923	P	0.51933	0.949	P	0.58331	0.837	D	0.87809	0.2630	9	.	.	.	.	12.9879	0.58602	0.1615:0.8385:0.0:0.0	.	495	Q9Y6Q1	CAN6_HUMAN	M	495;240	ENSP00000317214:R495M;ENSP00000441736:R240M	.	R	-	2	0	CAPN6	110378453	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	3.880000	0.56145	2.517000	0.84864	0.600000	0.82982	AGG		PASS	0.507	CAPN6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057922.1		Missense_Mutation	30	9	30	9	---	---	---	---
ZCCHC16	340595	broad.mit.edu	37	X	111698734	111698734	+	Missense_Mutation	SNP	C	C	G	rs139116920	byFrequency	TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chrX:111698734C>G	ENST00000340433.2	+	1	1008	c.778C>G	c.(778-780)Cga>Gga	p.R260G		NM_001004308.2	NP_001004308.2	Q6ZR62	ZCH16_HUMAN	zinc finger, CCHC domain containing 16	260							nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)	p.R260G(1)		cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	27						TATACAGCTGCGAGAAGGCCA	0.552																																						uc004epo.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(778-780)CGA>GGA		zinc finger, CCHC domain containing 16							99.0	100.0	99.0					X																	111698734		2203	4300	6503	SO:0001583	missense	340595						nucleic acid binding|zinc ion binding	g.chrX:111698734C>G	AK128465	CCDS35369.1	Xq23	2008-05-02			ENSG00000187823	ENSG00000187823		"""Zinc fingers, CCHC domain containing"""	25214	protein-coding gene	gene with protein product						15716091, 16093683	Standard	NM_001004308		Approved	Mart4, Mar4, FLJ46608	uc004epo.1	Q6ZR62	OTTHUMG00000159706	ENST00000340433.2:c.778C>G	X.37:g.111698734C>G	ENSP00000340590:p.Arg260Gly						p.R260G	NM_001004308	NP_001004308	Q6ZR62	ZCH16_HUMAN			3	1219	+			260					B2RPG1	Missense_Mutation	SNP	ENST00000340433.2	37	c.778C>G	CCDS35369.1	.	.	.	.	.	.	.	.	.	.	C	6.376	0.437545	0.12104	.	.	ENSG00000187823	ENST00000340433	T	0.27256	1.68	4.12	2.33	0.28932	.	0.517494	0.14490	N	0.316395	T	0.24509	0.0594	L	0.31207	0.915	0.09310	N	1	D	0.56287	0.975	P	0.53401	0.725	T	0.10730	-1.0617	10	0.16896	T	0.51	-4.3893	8.4171	0.32678	0.4257:0.5743:0.0:0.0	.	260	Q6ZR62	ZCH16_HUMAN	G	260	ENSP00000340590:R260G	ENSP00000340590:R260G	R	+	1	2	ZCCHC16	111585390	0.001000	0.12720	0.000000	0.03702	0.002000	0.02628	0.135000	0.15952	0.507000	0.28148	-0.255000	0.11280	CGA		PASS	0.552	ZCCHC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356964.1	NM_001004308		73	55	73	55	---	---	---	---
KIAA1210	57481	broad.mit.edu	37	X	118223502	118223502	+	Missense_Mutation	SNP	T	T	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chrX:118223502T>A	ENST00000402510.2	-	11	1690	c.1691A>T	c.(1690-1692)tAt>tTt	p.Y564F		NM_020721.1	NP_065772.1	Q9ULL0	K1210_HUMAN	KIAA1210	564								p.Y388F(1)|p.Y564F(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						GCCCAGGCCATACCCTTCACT	0.478																																						uc004era.3																			2	Substitution - Missense(2)		lung(2)	ovary(4)|skin(1)	5						c.(1690-1692)TAT>TTT		hypothetical protein LOC57481							196.0	190.0	192.0					X																	118223502		2026	4169	6195	SO:0001583	missense	57481							g.chrX:118223502T>A	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.1691A>T	X.37:g.118223502T>A	ENSP00000384670:p.Tyr564Phe						p.Y564F	NM_020721	NP_065772	Q9ULL0	K1210_HUMAN			11	1691	-			564					B7ZCI8|Q5JPN4	Missense_Mutation	SNP	ENST00000402510.2	37	c.1691A>T	CCDS48156.1	.	.	.	.	.	.	.	.	.	.	T	3.802	-0.041427	0.07452	.	.	ENSG00000250423	ENST00000402510	T	0.11063	2.81	4.83	-2.75	0.05914	.	.	.	.	.	T	0.04048	0.0113	N	0.14661	0.345	0.09310	N	1	B	0.14805	0.011	B	0.14023	0.01	T	0.44952	-0.9294	9	0.10111	T	0.7	.	1.8291	0.03127	0.5173:0.1004:0.1183:0.264	.	564	Q9ULL0	K1210_HUMAN	F	564	ENSP00000384670:Y564F	ENSP00000384670:Y564F	Y	-	2	0	RP13-347D8.6	118107530	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.025000	0.12413	-0.734000	0.04843	-0.520000	0.04383	TAT		PASS	0.478	KIAA1210-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371251.2	NM_020721		104	54	104	54	---	---	---	---
TENM1	10178	broad.mit.edu	37	X	123518504	123518504	+	Missense_Mutation	SNP	C	C	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chrX:123518504C>A	ENST00000371130.3	-	29	6319	c.6256G>T	c.(6256-6258)Gat>Tat	p.D2086Y	TENM1_ENST00000422452.2_Missense_Mutation_p.D2093Y|STAG2_ENST00000469481.1_Intron	NM_014253.3	NP_055068.2	Q9UKZ4	TEN1_HUMAN	teneurin transmembrane protein 1	2086					immune response (GO:0006955)|negative regulation of cell proliferation (GO:0008285)|nervous system development (GO:0007399)|neuropeptide signaling pathway (GO:0007218)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|regulation of transcription from RNA polymerase III promoter (GO:0006359)|response to stress (GO:0006950)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|nuclear matrix (GO:0016363)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	heparin binding (GO:0008201)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)	p.D2088Y(1)									TGATTTAAATCGTAATTAATT	0.363																																						uc004euj.2																			1	Substitution - Missense(1)		lung(1)	ovary(11)|breast(4)|large_intestine(2)|skin(2)|pancreas(2)|upper_aerodigestive_tract(1)|lung(1)	23						c.(6256-6258)GAT>TAT		odz, odd Oz/ten-m homolog 1 isoform 3							155.0	136.0	143.0					X																	123518504		2203	4300	6503	SO:0001583	missense	10178				immune response|negative regulation of cell proliferation|nervous system development|signal transduction	extracellular region	heparin binding	g.chrX:123518504C>A	AF100772	CCDS14609.1, CCDS55488.1	Xq25	2012-10-02	2012-10-02	2012-10-02	ENSG00000009694	ENSG00000009694			8117	protein-coding gene	gene with protein product		300588	"""tenascin M"", ""odz, odd Oz/ten-m homolog 1 (Drosophila)"""	ODZ3, TNM, ODZ1		10331952, 10341219	Standard	NM_001163278		Approved	TEN-M1	uc010nqy.3	Q9UKZ4	OTTHUMG00000022721	ENST00000371130.3:c.6256G>T	X.37:g.123518504C>A	ENSP00000360171:p.Asp2086Tyr					ODZ1_uc011muj.1_Missense_Mutation_p.D2092Y|ODZ1_uc010nqy.2_Missense_Mutation_p.D2093Y	p.D2086Y	NM_014253	NP_055068	Q9UKZ4	TEN1_HUMAN			29	6320	-			2086			YD 15.|Extracellular (Potential).		B2RTR5|Q5JZ17	Missense_Mutation	SNP	ENST00000371130.3	37	c.6256G>T	CCDS14609.1	.	.	.	.	.	.	.	.	.	.	C	18.21	3.573409	0.65765	.	.	ENSG00000009694	ENST00000371130;ENST00000422452	D;D	0.86497	-2.13;-2.1	5.61	5.61	0.85477	.	0.000000	0.85682	D	0.000000	D	0.92519	0.7624	L	0.57536	1.79	0.80722	D	1	D;D;D	0.89917	1.0;0.999;1.0	D;D;D	0.87578	0.998;0.97;0.989	D	0.93034	0.6451	10	0.72032	D	0.01	.	18.6434	0.91402	0.0:1.0:0.0:0.0	.	2092;2093;2086	B7ZMH4;B2RTR5;Q9UKZ4	.;.;TEN1_HUMAN	Y	2086;2093	ENSP00000360171:D2086Y;ENSP00000403954:D2093Y	ENSP00000360171:D2086Y	D	-	1	0	ODZ1	123346185	1.000000	0.71417	0.893000	0.35052	0.921000	0.55340	7.818000	0.86416	2.345000	0.79718	0.600000	0.82982	GAT		PASS	0.363	TENM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058985.1	NM_014253		77	39	77	39	---	---	---	---
TENM1	10178	broad.mit.edu	37	X	123870989	123870989	+	Silent	SNP	C	C	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chrX:123870989C>A	ENST00000371130.3	-	4	657	c.594G>T	c.(592-594)ccG>ccT	p.P198P	TENM1_ENST00000422452.2_Silent_p.P198P	NM_014253.3	NP_055068.2	Q9UKZ4	TEN1_HUMAN	teneurin transmembrane protein 1	198	Poly-Pro.|Teneurin N-terminal. {ECO:0000255|PROSITE-ProRule:PRU00694}.				immune response (GO:0006955)|negative regulation of cell proliferation (GO:0008285)|nervous system development (GO:0007399)|neuropeptide signaling pathway (GO:0007218)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|regulation of transcription from RNA polymerase III promoter (GO:0006359)|response to stress (GO:0006950)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|nuclear matrix (GO:0016363)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	heparin binding (GO:0008201)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)	p.P200P(1)									CATGAGGAGGCGGAGGTGGCG	0.572																																						uc004euj.2																			1	Substitution - coding silent(1)		lung(1)	ovary(11)|breast(4)|large_intestine(2)|skin(2)|pancreas(2)|upper_aerodigestive_tract(1)|lung(1)	23						c.(592-594)CCG>CCT		odz, odd Oz/ten-m homolog 1 isoform 3							59.0	61.0	60.0					X																	123870989		2203	4300	6503	SO:0001819	synonymous_variant	10178				immune response|negative regulation of cell proliferation|nervous system development|signal transduction	extracellular region	heparin binding	g.chrX:123870989C>A	AF100772	CCDS14609.1, CCDS55488.1	Xq25	2012-10-02	2012-10-02	2012-10-02	ENSG00000009694	ENSG00000009694			8117	protein-coding gene	gene with protein product		300588	"""tenascin M"", ""odz, odd Oz/ten-m homolog 1 (Drosophila)"""	ODZ3, TNM, ODZ1		10331952, 10341219	Standard	NM_001163278		Approved	TEN-M1	uc010nqy.3	Q9UKZ4	OTTHUMG00000022721	ENST00000371130.3:c.594G>T	X.37:g.123870989C>A						ODZ1_uc011muj.1_Silent_p.P198P|ODZ1_uc010nqy.2_Silent_p.P198P	p.P198P	NM_014253	NP_055068	Q9UKZ4	TEN1_HUMAN			4	658	-			198			Teneurin N-terminal.|Cytoplasmic (Potential).|Poly-Pro.		B2RTR5|Q5JZ17	Silent	SNP	ENST00000371130.3	37	c.594G>T	CCDS14609.1																																																																																				PASS	0.572	TENM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058985.1	NM_014253		44	18	44	18	---	---	---	---
DCAF12L1	139170	broad.mit.edu	37	X	125686130	125686131	+	Missense_Mutation	DNP	GG	GG	AC			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chrX:125686130_125686131GG>AC	ENST00000371126.1	-	1	703_704	c.461_462CC>GT	c.(460-462)gCC>gGT	p.A154G		NM_178470.4	NP_848565.2	Q5VU92	DC121_HUMAN	DDB1 and CUL4 associated factor 12-like 1	154								p.A154G(2)|p.A154A(1)		breast(1)|central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(39)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	68						TCAGCTCGATGGCATGGATGCC	0.653																																						uc004eul.2																			3	Substitution - Missense(2)|Substitution - coding silent(1)		lung(3)	skin(3)|ovary(1)	4						c.(460-462)GCC>GCT|c.(460-462)GCC>GGC		DDB1 and CUL4 associated factor 12-like 1																																				SO:0001583	missense	139170							g.chrX:125686130G>A|g.chrX:125686131G>C	BC035674	CCDS14610.1	Xq25	2013-01-09	2009-07-17	2009-07-17	ENSG00000198889	ENSG00000198889		"""WD repeat domain containing"""	29395	protein-coding gene	gene with protein product			"""WD repeat domain 40B"""	WDR40B		12477932	Standard	NM_178470		Approved	KIAA1892L	uc004eul.3	Q5VU92	OTTHUMG00000022353	ENST00000371126.1:c.461_462delinsAC	X.37:g.125686130_125686131delinsAC	ENSP00000360167:p.Ala154Gly						p.A154A|p.A154G	NM_178470	NP_848565	Q5VU92	DC121_HUMAN			1	713|712	-			154			WD 1.		Q8IYK3	Silent|Missense_Mutation	SNP	ENST00000371126.1	37	c.462C>T|c.461C>G	CCDS14610.1																																																																																				PASS	0.653	DCAF12L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058186.1	NM_178470		28|30	12|11	28	11	---	---	---	---
SMARCA1	6594	broad.mit.edu	37	X	128630823	128630823	+	Missense_Mutation	SNP	C	C	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chrX:128630823C>A	ENST00000371122.4	-	12	1659	c.1530G>T	c.(1528-1530)caG>caT	p.Q510H	SMARCA1_ENST00000371123.1_Missense_Mutation_p.Q510H|SMARCA1_ENST00000371121.3_Missense_Mutation_p.Q510H	NM_003069.3	NP_003060.2	P28370	SMCA1_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 1	510	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				ATP catabolic process (GO:0006200)|ATP-dependent chromatin remodeling (GO:0043044)|brain development (GO:0007420)|chromatin remodeling (GO:0006338)|DNA strand renaturation (GO:0000733)|neuron differentiation (GO:0030182)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of neural precursor cell proliferation (GO:2000177)|transcription, DNA-templated (GO:0006351)	CERF complex (GO:0090537)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|NURF complex (GO:0016589)	annealing helicase activity (GO:0036310)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)	p.Q510H(1)		biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(13)|ovary(5)|prostate(1)|skin(1)	45						AGCGAGTCATCTGGCTGAAAA	0.388																																						uc004eun.3																			1	Substitution - Missense(1)		lung(1)	ovary(3)|skin(1)	4						c.(1528-1530)CAG>CAT		SWI/SNF-related matrix-associated							120.0	109.0	113.0					X																	128630823		2203	4300	6503	SO:0001583	missense	6594				ATP-dependent chromatin remodeling|brain development|neuron differentiation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	NURF complex	ATP binding|DNA binding|helicase activity|nucleosome binding|protein binding	g.chrX:128630823C>A	M88163	CCDS14612.1, CCDS76018.1, CCDS76019.1	Xq25	2008-02-05			ENSG00000102038	ENSG00000102038			11097	protein-coding gene	gene with protein product		300012		SNF2L1, SNF2L		1408766, 14609955	Standard	XM_005262461		Approved	SNF2LB, NURF140, ISWI, SWI	uc004eun.4	P28370	OTTHUMG00000022370	ENST00000371122.4:c.1530G>T	X.37:g.128630823C>A	ENSP00000360163:p.Gln510His					SMARCA1_uc004eup.3_Missense_Mutation_p.Q510H|SMARCA1_uc011muk.1_Missense_Mutation_p.Q510H|SMARCA1_uc011mul.1_Missense_Mutation_p.Q510H	p.Q510H	NM_003069	NP_003060	P28370	SMCA1_HUMAN			12	1643	-			510			Helicase C-terminal.		Q5JV41|Q5JV42	Missense_Mutation	SNP	ENST00000371122.4	37	c.1530G>T	CCDS14612.1	.	.	.	.	.	.	.	.	.	.	C	22.0	4.225419	0.79576	.	.	ENSG00000102038	ENST00000371121;ENST00000371123;ENST00000371122;ENST00000450039	T;T;T;T	0.80824	-1.42;-1.42;-1.42;-1.42	5.36	4.5	0.54988	Helicase, C-terminal (1);	0.000000	0.64402	D	0.000011	D	0.91369	0.7277	M	0.92880	3.355	0.58432	D	0.999999	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.79108	0.982;0.982;0.992;0.982	D	0.92710	0.6182	10	0.87932	D	0	-11.4326	13.258	0.60089	0.0:0.9213:0.0:0.0787	.	489;510;510;510	E9PCY3;B7ZLQ5;P28370-2;P28370	.;.;.;SMCA1_HUMAN	H	510;510;510;489	ENSP00000360162:Q510H;ENSP00000360164:Q510H;ENSP00000360163:Q510H;ENSP00000404275:Q489H	ENSP00000360162:Q510H	Q	-	3	2	SMARCA1	128458504	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	2.144000	0.42197	1.041000	0.40125	0.422000	0.28245	CAG		PASS	0.388	SMARCA1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058206.1	NM_003069		93	43	93	43	---	---	---	---
ZNF280C	55609	broad.mit.edu	37	X	129394414	129394414	+	Missense_Mutation	SNP	C	C	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chrX:129394414C>A	ENST00000370978.4	-	2	163	c.10G>T	c.(10-12)Gac>Tac	p.D4Y		NM_017666.4	NP_060136.1	Q8ND82	Z280C_HUMAN	zinc finger protein 280C	4					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.D4Y(1)		endometrium(3)|kidney(4)|large_intestine(9)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	26						AAAGGTTTGTCGTCATCCATG	0.343																																						uc004evm.2																			1	Substitution - Missense(1)		lung(1)	skin(2)|ovary(1)	3						c.(10-12)GAC>TAC		zinc finger protein 280C							125.0	105.0	112.0					X																	129394414		2203	4300	6503	SO:0001583	missense	55609				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chrX:129394414C>A	AL834333	CCDS14622.1	Xq25	2008-05-02	2007-09-20	2007-09-20	ENSG00000056277	ENSG00000056277			25955	protein-coding gene	gene with protein product			"""suppressor of hairy wing homolog 3 (Drosophila)"""	SUHW3		12477932	Standard	NM_017666		Approved	FLJ20095, ZNF633	uc004evm.3	Q8ND82	OTTHUMG00000022393	ENST00000370978.4:c.10G>T	X.37:g.129394414C>A	ENSP00000360017:p.Asp4Tyr					ZNF280C_uc010nrf.1_Missense_Mutation_p.D4Y	p.D4Y	NM_017666	NP_060136	Q8ND82	Z280C_HUMAN			2	164	-			4					A8K2V8|Q9NXR3	Missense_Mutation	SNP	ENST00000370978.4	37	c.10G>T	CCDS14622.1	.	.	.	.	.	.	.	.	.	.	C	3.918	-0.018775	0.07681	.	.	ENSG00000056277	ENST00000066465;ENST00000370978;ENST00000447817	T;T	0.05925	4.15;3.37	3.69	-5.58	0.02512	.	.	.	.	.	T	0.08179	0.0204	N	0.24115	0.695	0.09310	N	1	D;P	0.59357	0.985;0.924	P;P	0.53649	0.731;0.663	T	0.14839	-1.0458	9	0.72032	D	0.01	.	12.8584	0.57899	0.0:0.3367:0.0:0.6633	.	4;4	Q9UJJ2;Q8ND82	.;Z280C_HUMAN	Y	4	ENSP00000360017:D4Y;ENSP00000408521:D4Y	ENSP00000066465:D4Y	D	-	1	0	ZNF280C	129222095	0.000000	0.05858	0.000000	0.03702	0.008000	0.06430	-1.769000	0.01792	-2.328000	0.00635	-1.341000	0.01249	GAC		PASS	0.343	ZNF280C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058251.1	NM_017666		3	110	3	110	---	---	---	---
GPR112	139378	broad.mit.edu	37	X	135431464	135431464	+	Nonsense_Mutation	SNP	G	G	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chrX:135431464G>T	ENST00000394143.1	+	6	5890	c.5599G>T	c.(5599-5601)Gga>Tga	p.G1867*	GPR112_ENST00000370652.1_Nonsense_Mutation_p.G1867*|GPR112_ENST00000287534.4_Nonsense_Mutation_p.G1804*|GPR112_ENST00000394141.1_Nonsense_Mutation_p.G1662*|GPR112_ENST00000412101.1_Nonsense_Mutation_p.G1662*	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN	G protein-coupled receptor 112	1867					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.G1867*(1)		NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					TCCAGTTCTGGGAACAAGAAT	0.423																																						uc004ezu.1																			1	Substitution - Nonsense(1)		lung(1)	ovary(5)|large_intestine(2)|skin(2)|lung(1)|breast(1)|pancreas(1)	12						c.(5599-5601)GGA>TGA		G-protein coupled receptor 112							112.0	105.0	107.0					X																	135431464		2203	4300	6503	SO:0001587	stop_gained	139378				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chrX:135431464G>T	AY140954	CCDS35409.1	Xq26.3	2014-08-08			ENSG00000156920	ENSG00000156920		"""-"", ""GPCR / Class B : Orphans"""	18992	protein-coding gene	gene with protein product						12435584	Standard	XM_005262367		Approved	RP1-299I16, PGR17	uc004ezu.1	Q8IZF6	OTTHUMG00000022508	ENST00000394143.1:c.5599G>T	X.37:g.135431464G>T	ENSP00000377699:p.Gly1867*					GPR112_uc010nsb.1_Nonsense_Mutation_p.G1662*|GPR112_uc010nsc.1_Nonsense_Mutation_p.G1634*	p.G1867*	NM_153834	NP_722576	Q8IZF6	GP112_HUMAN			6	5890	+	Acute lymphoblastic leukemia(192;0.000127)		1867			Extracellular (Potential).		A2A2J1|A2A2J2|Q5EGP2|Q86SM6	Nonsense_Mutation	SNP	ENST00000394143.1	37	c.5599G>T	CCDS35409.1	.	.	.	.	.	.	.	.	.	.	g	47	13.650570	0.99755	.	.	ENSG00000156920	ENST00000394143;ENST00000370652;ENST00000412101;ENST00000287534;ENST00000394141	.	.	.	3.78	1.91	0.25777	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	.	4.9224	0.13876	0.1296:0.2137:0.6567:0.0	.	.	.	.	X	1867;1867;1662;1804;1662	.	ENSP00000287534:G1804X	G	+	1	0	GPR112	135259130	0.022000	0.18835	0.205000	0.23548	0.993000	0.82548	2.104000	0.41815	0.112000	0.17975	0.530000	0.56133	GGA		PASS	0.423	GPR112-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000286639.1			82	36	82	36	---	---	---	---
CDR1	1038	broad.mit.edu	37	X	139866314	139866314	+	Missense_Mutation	SNP	A	A	G			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chrX:139866314A>G	ENST00000370532.2	-	1	409	c.218T>C	c.(217-219)aTg>aCg	p.M73T		NM_004065.2	NP_004056.2	P51861	CDR1_HUMAN	cerebellar degeneration-related protein 1, 34kDa	73	23 X 6 AA approximate repeats.							p.M73T(1)		breast(1)|endometrium(3)|large_intestine(3)|lung(11)|prostate(2)|skin(4)|urinary_tract(1)	25	Acute lymphoblastic leukemia(192;7.65e-05)	Lung SC(4;0.051)				CCTCAAATCCATAGCTTCCGA	0.453																																						uc004fbg.1																			1	Substitution - Missense(1)		lung(1)		0						c.(217-219)ATG>ACG		cerebellar degeneration-related protein 1,							81.0	80.0	80.0					X																	139866314		2203	4300	6503	SO:0001583	missense	1038							g.chrX:139866314A>G		CCDS14670.1	Xq27.1	2013-06-13	2002-08-29		ENSG00000184258	ENSG00000184258			1798	protein-coding gene	gene with protein product	"""Cerebellar degeneration-related protein-1 (34kD)"""	302650	"""cerebellar degeneration-related protein (34kD)"""	CDR		2326268	Standard	NM_004065		Approved	CDR62A, CDR34	uc004fbg.1	P51861	OTTHUMG00000137398	ENST00000370532.2:c.218T>C	X.37:g.139866314A>G	ENSP00000359563:p.Met73Thr					uc004fbf.1_RNA	p.M73T	NM_004065	NP_004056	P51861	CDR1_HUMAN			1	410	-	Acute lymphoblastic leukemia(192;7.65e-05)	Lung SC(4;0.051)	73			23 X 6 AA approximate repeats.|12.		Q5JXH6	Missense_Mutation	SNP	ENST00000370532.2	37	c.218T>C	CCDS14670.1	.	.	.	.	.	.	.	.	.	.	A	2.952	-0.216429	0.06101	.	.	ENSG00000184258	ENST00000370532	T	0.27890	1.64	3.68	-7.35	0.01422	.	.	.	.	.	T	0.11324	0.0276	N	0.14661	0.345	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.23297	-1.0192	8	.	.	.	.	1.8309	0.03130	0.1639:0.2462:0.1038:0.4861	.	73	P51861	CDR1_HUMAN	T	73	ENSP00000359563:M73T	.	M	-	2	0	CDR1	139693980	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.093000	0.11111	-1.954000	0.01025	-0.665000	0.03846	ATG		PASS	0.453	CDR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058583.1	NM_004065		52	33	52	33	---	---	---	---
MAGEC2	51438	broad.mit.edu	37	X	141291506	141291506	+	Missense_Mutation	SNP	C	C	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chrX:141291506C>A	ENST00000247452.3	-	3	615	c.268G>T	c.(268-270)Ggt>Tgt	p.G90C		NM_016249.3	NP_057333.1	Q9UBF1	MAGC2_HUMAN	melanoma antigen family C, 2	90	Ser-rich.				cellular protein catabolic process (GO:0044257)|positive regulation of ubiquitin-protein transferase activity (GO:0051443)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ubiquitin protein ligase binding (GO:0031625)	p.G90C(1)		NS(2)|breast(3)|endometrium(3)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(3)	47	Acute lymphoblastic leukemia(192;6.56e-05)					tgtggaggaccctgtggagga	0.552										HNSCC(46;0.14)																												uc004fbu.1																			1	Substitution - Missense(1)		lung(1)	breast(2)	2						c.(268-270)GGT>TGT		melanoma antigen family C, 2							75.0	69.0	71.0					X																	141291506		2203	4300	6503	SO:0001583	missense	51438					cytoplasm|nucleus		g.chrX:141291506C>A	AF116195	CCDS14678.1	Xq27	2009-03-25	2004-06-08	2004-06-09	ENSG00000046774	ENSG00000046774			13574	protein-coding gene	gene with protein product	"""cancer/testis antigen 10"""	300468	"""melanoma antigen, family E, 1, cancer/testis specific"""	MAGEE1		10699956	Standard	NM_016249		Approved	CT10, MAGE-C2	uc004fbu.2	Q9UBF1	OTTHUMG00000022574	ENST00000247452.3:c.268G>T	X.37:g.141291506C>A	ENSP00000354660:p.Gly90Cys	HNSCC(46;0.14)					p.G90C	NM_016249	NP_057333	Q9UBF1	MAGC2_HUMAN			3	616	-	Acute lymphoblastic leukemia(192;6.56e-05)		90			Ser-rich.		Q5JZ00|Q96D45|Q9P1M6|Q9P1M7	Missense_Mutation	SNP	ENST00000247452.3	37	c.268G>T	CCDS14678.1	.	.	.	.	.	.	.	.	.	.	-	3.418	-0.118793	0.06838	.	.	ENSG00000046774	ENST00000247452	T	0.04970	3.52	0.468	-0.935	0.10423	Melanoma associated antigen, MAGE, N-terminal (1);	23.921500	0.00567	N	0.000283	T	0.05410	0.0143	N	0.24115	0.695	0.09310	N	1	P	0.45768	0.866	B	0.42625	0.393	T	0.13045	-1.0524	9	0.72032	D	0.01	.	.	.	.	.	90	Q9UBF1	MAGC2_HUMAN	C	90	ENSP00000354660:G90C	ENSP00000354660:G90C	G	-	1	0	MAGEC2	141119172	.	.	0.000000	0.03702	0.001000	0.01503	.	.	-1.955000	0.01023	-1.981000	0.00455	GGT		PASS	0.552	MAGEC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058611.1	NM_016249		33	19	33	19	---	---	---	---
MIR513A1	574509	broad.mit.edu	37	X	146295104	146295104	+	RNA	SNP	C	C	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chrX:146295104C>A	ENST00000385138.1	-	0	5					NR_030231.1				microRNA 513a-1																		ctgaatgtggcatcccAGACC	0.433																																						hsa-mir-513a-1|MI0003191																			0					0															119.0	94.0	102.0					X																	146295104		1567	3581	5148			574509							g.chrX:146295104C>A			Xq27.3	2011-09-12	2008-01-07	2008-12-18	ENSG00000207873	ENSG00000207873		"""ncRNAs / Micro RNAs"""	32141	non-coding RNA	RNA, micro			"""microRNA 513-1"""	MIRN513-1, MIRN513A1			Standard	NR_030231		Approved	hsa-mir-513-1, hsa-mir-513a-1					X.37:g.146295104C>A																-									RNA	SNP	ENST00000385138.1	37	c.6C>A																																																																																					PASS	0.433	MIR513A1-201	KNOWN	basic	miRNA	miRNA		NR_030231		5	6	5	6	---	---	---	---
MAGEA4	4103	broad.mit.edu	37	X	151092212	151092212	+	Missense_Mutation	SNP	G	G	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chrX:151092212G>T	ENST00000360243.2	+	3	343	c.76G>T	c.(76-78)Gtg>Ttg	p.V26L	MAGEA4_ENST00000276344.2_Missense_Mutation_p.V26L|MAGEA4_ENST00000370340.3_Missense_Mutation_p.V26L|MAGEA4_ENST00000370335.1_Missense_Mutation_p.V26L|MAGEA4_ENST00000370337.4_Missense_Mutation_p.V26L|MAGEA4_ENST00000393921.1_Missense_Mutation_p.V26L|MAGEA4_ENST00000393920.1_Missense_Mutation_p.V26L	NM_001011550.1	NP_001011550.1	P43358	MAGA4_HUMAN	melanoma antigen family A, 4	26								p.V26L(1)		breast(2)|central_nervous_system(4)|endometrium(1)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)	27	Acute lymphoblastic leukemia(192;6.56e-05)					CCTGGGCCTGGTGGGTGCACA	0.617																																						uc004fez.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|breast(1)|central_nervous_system(1)	3						c.(76-78)GTG>TTG		melanoma antigen family A, 4							45.0	44.0	44.0					X																	151092212		2203	4299	6502	SO:0001583	missense	4103						protein binding	g.chrX:151092212G>T		CCDS14702.1	Xq28	2009-03-13			ENSG00000147381	ENSG00000147381			6802	protein-coding gene	gene with protein product	"""melanoma-associated antigen 4"", ""cancer/testis antigen family 1, member 4"""	300175		MAGE4		8575766	Standard	XM_005274677		Approved	MAGE4A, MAGE4B, MAGE-41, MAGE-X2, MGC21336, CT1.4	uc004ffa.3	P43358	OTTHUMG00000024174	ENST00000360243.2:c.76G>T	X.37:g.151092212G>T	ENSP00000353379:p.Val26Leu					MAGEA4_uc004ffa.2_Missense_Mutation_p.V26L|MAGEA4_uc004ffb.2_Missense_Mutation_p.V26L|MAGEA4_uc004ffc.2_Missense_Mutation_p.V26L|MAGEA4_uc004ffd.2_Missense_Mutation_p.V26L	p.V26L	NM_002362	NP_002353	P43358	MAGA4_HUMAN			3	232	+	Acute lymphoblastic leukemia(192;6.56e-05)		26					Q14798	Missense_Mutation	SNP	ENST00000360243.2	37	c.76G>T	CCDS14702.1	.	.	.	.	.	.	.	.	.	.	G	9.920	1.211804	0.22289	.	.	ENSG00000147381	ENST00000431963;ENST00000276344;ENST00000448295;ENST00000393921;ENST00000430273;ENST00000370337;ENST00000441865;ENST00000393920;ENST00000370340;ENST00000416020;ENST00000425182;ENST00000457310;ENST00000370335;ENST00000360243;ENST00000431971	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.04603	3.59;3.59;3.59;3.59;3.59;3.59;3.59;3.59;3.59;3.59;3.59;3.59;3.59;3.59;3.59	2.4	-0.819	0.10829	Melanoma associated antigen, MAGE, N-terminal (1);	3.758910	0.00559	N	0.000267	T	0.10895	0.0266	M	0.75615	2.305	0.09310	N	1	P	0.35192	0.489	B	0.42495	0.389	T	0.30966	-0.9960	10	0.31617	T	0.26	.	5.0836	0.14671	0.0:0.4617:0.3237:0.2146	.	26	P43358	MAGA4_HUMAN	L	26	ENSP00000387777:V26L;ENSP00000276344:V26L;ENSP00000391904:V26L;ENSP00000377498:V26L;ENSP00000394149:V26L;ENSP00000359362:V26L;ENSP00000402624:V26L;ENSP00000377497:V26L;ENSP00000359365:V26L;ENSP00000394073:V26L;ENSP00000400900:V26L;ENSP00000402186:V26L;ENSP00000359360:V26L;ENSP00000353379:V26L;ENSP00000390096:V26L	ENSP00000276344:V26L	V	+	1	0	MAGEA4	150842868	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-2.609000	0.00886	-0.341000	0.08376	0.436000	0.28706	GTG		PASS	0.617	MAGEA4-010	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060898.1	NM_002362		42	13	42	13	---	---	---	---
PNCK	139728	broad.mit.edu	37	X	152937126	152937126	+	Splice_Site	SNP	G	G	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chrX:152937126G>T	ENST00000370150.1	-	6	594	c.416C>A	c.(415-417)cCc>cAc	p.P139H	PNCK_ENST00000393831.2_Splice_Site_p.P139H|PNCK_ENST00000340888.3_Splice_Site_p.P139H|PNCK_ENST00000475172.1_5'UTR|PNCK_ENST00000370145.4_Splice_Site_p.P156H|PNCK_ENST00000447676.2_Splice_Site_p.P222H|PNCK_ENST00000370142.1_Splice_Site_p.P139H			Q6P2M8	KCC1B_HUMAN	pregnancy up-regulated nonubiquitous CaM kinase	139	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.					cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|calmodulin-dependent protein kinase activity (GO:0004683)	p.P156H(1)|p.P139H(1)		breast(2)|lung(3)|skin(1)	6	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					GAGGTTTTCGGGCTGTGACAC	0.597																																						uc011myu.1																			2	Substitution - Missense(2)		lung(2)	breast(1)	1						c.(664-666)CCC>CAC		pregnancy upregulated non-ubiquitously expressed							120.0	109.0	113.0					X																	152937126		2203	4300	6503	SO:0001630	splice_region_variant	139728					cytoplasm|nucleus	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity	g.chrX:152937126G>T	BC033746	CCDS35503.2, CCDS48189.1	Xq28	2013-10-14	2013-10-14		ENSG00000130822	ENSG00000130822			13415	protein-coding gene	gene with protein product		300680	"""pregnancy upregulated non-ubiquitously expressed CaM kinase"", ""pregnancy up-regulated non-ubiquitously expressed CaM kinase"""			12477932	Standard	NM_001039582		Approved	MGC45419, CaMK1b	uc011myu.2	Q6P2M8	OTTHUMG00000024216	ENST00000370150.1:c.415-1C>A	X.37:g.152937126G>T						PNCK_uc011myt.1_Missense_Mutation_p.P156H|PNCK_uc004fia.2_Missense_Mutation_p.P151H|PNCK_uc004fhz.3_Missense_Mutation_p.P37H|PNCK_uc010nuh.2_3'UTR|PNCK_uc011myv.1_Missense_Mutation_p.P166H|PNCK_uc011myw.1_Missense_Mutation_p.P166H	p.P222H	NM_001039582	NP_001034671	Q6P2M8	KCC1B_HUMAN			6	851	-	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)		139			Protein kinase.		B4DJR8|B4E1A6|B7WPG0|D3DWU7|Q8N4R0	Missense_Mutation	SNP	ENST00000370150.1	37	c.665C>A		.	.	.	.	.	.	.	.	.	.	g	22.6	4.311696	0.81358	.	.	ENSG00000130822	ENST00000340888;ENST00000370150;ENST00000393831;ENST00000370142;ENST00000370145;ENST00000447676;ENST00000439087;ENST00000422811	T;T;T;T;T;T;T;T	0.44482	0.92;0.92;0.92;0.92;0.92;0.92;0.92;0.92	4.91	4.91	0.64330	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	0.000035	T	0.77003	0.4067	H	0.97564	4.03	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	0.86224	0.1633	10	0.87932	D	0	-14.0786	15.9203	0.79562	0.0:0.0:1.0:0.0	.	166;222;156;139	B4DJG4;Q6P2M8-5;B4E1A6;Q6P2M8	.;.;.;KCC1B_HUMAN	H	139;139;139;139;156;222;139;139	ENSP00000340586:P139H;ENSP00000359169:P139H;ENSP00000377417:P139H;ENSP00000359161:P139H;ENSP00000359164:P156H;ENSP00000405950:P222H;ENSP00000415770:P139H;ENSP00000391772:P139H	ENSP00000340586:P139H	P	-	2	0	PNCK	152590320	1.000000	0.71417	1.000000	0.80357	0.801000	0.45260	7.704000	0.84595	2.005000	0.58758	0.529000	0.55759	CCC		PASS	0.597	PNCK-001	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000061044.2	NM_198452	Missense_Mutation	70	38	70	38	---	---	---	---
L1CAM	3897	broad.mit.edu	37	X	153130878	153130879	+	Missense_Mutation	DNP	GG	GG	TT			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chrX:153130878_153130879GG>TT	ENST00000370060.1	-	21	2813_2814	c.2624_2625CC>AA	c.(2623-2625)gCC>gAA	p.A875E	L1CAM_ENST00000361981.3_Missense_Mutation_p.A870E|L1CAM_ENST00000538883.1_Missense_Mutation_p.A877E|L1CAM_ENST00000543994.1_Missense_Mutation_p.A877E|L1CAM_ENST00000361699.4_Missense_Mutation_p.A875E|L1CAM_ENST00000370057.3_Missense_Mutation_p.A875E|L1CAM_ENST00000370055.1_Missense_Mutation_p.A870E	NM_001278116.1	NP_001265045.1	P32004	L1CAM_HUMAN	L1 cell adhesion molecule	875	Fibronectin type-III 3. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell death (GO:0008219)|cell surface receptor signaling pathway (GO:0007166)|cell-cell adhesion mediated by integrin (GO:0033631)|chemotaxis (GO:0006935)|heterophilic cell-cell adhesion (GO:0007157)|homophilic cell adhesion (GO:0007156)|homotypic cell-cell adhesion (GO:0034109)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|nervous system development (GO:0007399)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of cell-cell adhesion (GO:0022409)	cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)|terminal bouton (GO:0043195)	sialic acid binding (GO:0033691)	p.A875D(1)|p.A875A(1)		NS(1)|breast(4)|central_nervous_system(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|liver(1)|lung(31)|ovary(13)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	81	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					TGGTGGTGTTGGCGGGCACCAC	0.604																																						uc004fjb.2																			2	Substitution - Missense(1)|Substitution - coding silent(1)		lung(2)	ovary(8)|central_nervous_system(1)	9						c.(2623-2625)GCC>GCA|c.(2623-2625)GCC>GAC		L1 cell adhesion molecule isoform 1 precursor																																				SO:0001583	missense	3897				axon guidance|blood coagulation|cell death|leukocyte migration	integral to membrane		g.chrX:153130878G>T|g.chrX:153130879G>T	M74387	CCDS14733.1, CCDS14734.1, CCDS48192.1	Xq28	2014-09-17	2003-04-07		ENSG00000198910	ENSG00000198910		"""CD molecules"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	6470	protein-coding gene	gene with protein product		308840	"""antigen identified by monoclonal antibody R1"""	HSAS1, SPG1, HSAS, MASA, MIC5, S10			Standard	NM_001278116		Approved	CD171	uc031tks.1	P32004	OTTHUMG00000024221	ENST00000370060.1:c.2624_2625delinsTT	X.37:g.153130878_153130879delinsTT	ENSP00000359077:p.Ala875Glu					L1CAM_uc004fjc.2_Silent_p.A875A|L1CAM_uc010nuo.2_Silent_p.A870A|L1CAM_uc004fjc.2_Missense_Mutation_p.A875D|L1CAM_uc010nuo.2_Missense_Mutation_p.A870D	p.A875A|p.A875D	NM_000425	NP_000416	P32004	L1CAM_HUMAN			20	2733|2732	-	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)		875			Extracellular (Potential).|Fibronectin type-III 3.		A0AV65|A4ZYW4|B2RMU7|G3XAF4|Q8TA87	Silent|Missense_Mutation	SNP	ENST00000370060.1	37	c.2625C>A|c.2624C>A	CCDS14733.1																																																																																				PASS	0.604	L1CAM-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000061094.2	NM_024003		81|79	30	79	30	---	---	---	---
CDCP2	200008	broad.mit.edu	37	1	54605533	54605533	+	Frame_Shift_Del	DEL	C	C	-			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr1:54605533delC	ENST00000371330.1	-	4	1857	c.1010delG	c.(1009-1011)ggafs	p.G337fs	RP11-446E24.4_ENST00000525949.1_5'Flank|CDCP2_ENST00000530059.1_5'Flank	NM_201546.2	NP_963840.2	Q5VXM1	CDCP2_HUMAN	CUB domain containing protein 2	337	CUB 3. {ECO:0000255|PROSITE- ProRule:PRU00059}.					extracellular region (GO:0005576)				kidney(1)|large_intestine(6)|lung(13)|ovary(1)|prostate(2)|stomach(1)	24						CAGGTGGTGTCCACACCAATT	0.632																																						uc001cwv.1																			0				ovary(1)	1						c.(1009-1011)GGAfs		CUB domain containing protein 2 precursor							46.0	48.0	48.0					1																	54605533		2203	4300	6503	SO:0001589	frameshift_variant	200008					extracellular region		g.chr1:54605533delC		CCDS588.2	1p32.3	2011-02-10			ENSG00000157211	ENSG00000157211			27297	protein-coding gene	gene with protein product		612320				12477932	Standard	NM_201546		Approved		uc001cwv.2	Q5VXM1	OTTHUMG00000155307	ENST00000371330.1:c.1010delG	1.37:g.54605533delC	ENSP00000360381:p.Gly337fs						p.G337fs	NM_201546	NP_963840	Q5VXM1	CDCP2_HUMAN			4	1858	-			337			CUB 3.		Q6ZWJ3	Frame_Shift_Del	DEL	ENST00000371330.1	37	c.1010delG	CCDS588.2																																																																																					0.632	CDCP2-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000022209.2	NM_201546		35	16	35	16	---	---	---	---
ATXN7L2	127002	broad.mit.edu	37	1	110026622	110026622	+	Frame_Shift_Del	DEL	G	G	-			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr1:110026622delG	ENST00000369870.3	+	1	62	c.47delG	c.(46-48)cggfs	p.R17fs		NM_153340.4	NP_699171.3	Q5T6C5	AT7L2_HUMAN	ataxin 7-like 2	17										breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|skin(1)	17		all_epithelial(167;0.00197)|all_lung(203;0.00291)|Lung NSC(277;0.00453)		Colorectal(144;0.0129)|Lung(183;0.0426)|Epithelial(280;0.0675)|READ - Rectum adenocarcinoma(129;0.0693)|all cancers(265;0.071)|LUSC - Lung squamous cell carcinoma(189;0.228)		gctctggagcggcggGTGCCG	0.751																																						uc001dxr.2																			0				ovary(2)	2						c.(46-48)CGGfs		ataxin 7-like 2							7.0	10.0	9.0					1																	110026622		1877	3857	5734	SO:0001589	frameshift_variant	127002							g.chr1:110026622delG	BC037582	CCDS30794.1	1p13.2	2008-02-05			ENSG00000162650	ENSG00000162650			28713	protein-coding gene	gene with protein product						12477932	Standard	NM_153340		Approved	MGC46534, FLJ00381	uc001dxr.3	Q5T6C5	OTTHUMG00000011027	ENST00000369870.3:c.47delG	1.37:g.110026622delG	ENSP00000358886:p.Arg17fs						p.R16fs	NM_153340	NP_699171	Q5T6C5	AT7L2_HUMAN		Colorectal(144;0.0129)|Lung(183;0.0426)|Epithelial(280;0.0675)|READ - Rectum adenocarcinoma(129;0.0693)|all cancers(265;0.071)|LUSC - Lung squamous cell carcinoma(189;0.228)	1	62	+		all_epithelial(167;0.00197)|all_lung(203;0.00291)|Lung NSC(277;0.00453)	16						Frame_Shift_Del	DEL	ENST00000369870.3	37	c.47delG	CCDS30794.1																																																																																					0.751	ATXN7L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030331.1	NM_153340		11	6	11	6	---	---	---	---
KCNT2	343450	broad.mit.edu	37	1	196577354	196577354	+	Frame_Shift_Del	DEL	T	T	-	rs371208932	byFrequency	TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr1:196577354delT	ENST00000294725.9	-	1	1001	c.86delA	c.(85-87)aacfs	p.N29fs	KCNT2_ENST00000367433.5_Frame_Shift_Del_p.N29fs|KCNT2_ENST00000367431.4_Frame_Shift_Del_p.N29fs|KCNT2_ENST00000609185.1_Frame_Shift_Del_p.N29fs|KCNT2_ENST00000451324.2_5'UTR			Q6UVM3	KCNT2_HUMAN	potassium channel, subfamily T, member 2	29					potassium ion transmembrane transport (GO:0071805)	voltage-gated potassium channel complex (GO:0008076)	ATP binding (GO:0005524)|calcium-activated potassium channel activity (GO:0015269)|voltage-gated potassium channel activity (GO:0005249)			NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(16)|lung(43)|ovary(5)|pancreas(1)|prostate(1)|skin(11)|stomach(2)|upper_aerodigestive_tract(1)	97						CCTGTCGTCGTTTTGCCATCC	0.517																																						uc001gtd.1																			0				ovary(5)|breast(1)|skin(1)	7						c.(85-87)AACfs		potassium channel, subfamily T, member 2							204.0	175.0	184.0					1																	196577354		2203	4300	6503	SO:0001589	frameshift_variant	343450					voltage-gated potassium channel complex	ATP binding|calcium-activated potassium channel activity|voltage-gated potassium channel activity	g.chr1:196577354delT	BX647852, AY359444, AK127807	CCDS1384.1, CCDS72994.1, CCDS72995.1	1q31.3	2012-07-05			ENSG00000162687	ENSG00000162687		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, calcium-activated"""	18866	protein-coding gene	gene with protein product	"""sodium and chloride activated ATP sensitive potassium channel"""	610044				16382103	Standard	NM_198503		Approved	KCa4.2, SLICK, SLO2.1	uc001gtd.1	Q6UVM3	OTTHUMG00000035611	ENST00000294725.9:c.86delA	1.37:g.196577354delT	ENSP00000294725:p.Asn29fs					KCNT2_uc001gte.1_Frame_Shift_Del_p.N29fs|KCNT2_uc001gtf.1_Frame_Shift_Del_p.N29fs|KCNT2_uc001gtg.1_RNA|KCNT2_uc009wyu.2_Frame_Shift_Del_p.N29fs|KCNT2_uc009wyv.1_Frame_Shift_Del_p.N29fs	p.N29fs	NM_198503	NP_940905	Q6UVM3	KCNT2_HUMAN			1	146	-			29			Cytoplasmic (Potential).		Q3SY59|Q5VTN1|Q6ZMT3	Frame_Shift_Del	DEL	ENST00000294725.9	37	c.86delA	CCDS1384.1																																																																																					0.517	KCNT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086418.2	NM_198503		158	73	158	73	---	---	---	---
ATL2	64225	broad.mit.edu	37	2	38537548	38537548	+	Frame_Shift_Del	DEL	C	C	-			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr2:38537548delC	ENST00000378954.4	-	8	847	c.846delG	c.(844-846)aagfs	p.K282fs	ATL2_ENST00000406122.1_Frame_Shift_Del_p.K111fs|ATL2_ENST00000452935.2_Frame_Shift_Del_p.K264fs|ATL2_ENST00000546051.1_Frame_Shift_Del_p.K111fs|ATL2_ENST00000402054.1_Frame_Shift_Del_p.K111fs|ATL2_ENST00000419554.2_Frame_Shift_Del_p.K282fs|ATL2_ENST00000332337.4_Frame_Shift_Del_p.K264fs|ATL2_ENST00000539122.1_Frame_Shift_Del_p.K111fs	NM_001135673.1|NM_022374.2	NP_001129145.1|NP_071769.2	Q8NHH9	ATLA2_HUMAN	atlastin GTPase 2	282	GB1/RHD3-type G.				endoplasmic reticulum organization (GO:0007029)|Golgi organization (GO:0007030)|GTP catabolic process (GO:0006184)|protein homooligomerization (GO:0051260)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|identical protein binding (GO:0042802)			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	22						TGTGTATGTGCTTCCTTACAT	0.368																																						uc002rqq.2																			0				ovary(1)|kidney(1)|skin(1)	3						c.(844-846)AAGfs		atlastin GTPase 2 isoform 2							159.0	141.0	147.0					2																	38537548		2203	4300	6503	SO:0001589	frameshift_variant	64225				endoplasmic reticulum organization|Golgi organization|protein homooligomerization	endoplasmic reticulum membrane|integral to membrane	GTP binding|GTPase activity|identical protein binding	g.chr2:38537548delC		CCDS1795.1, CCDS46260.1	2p22.3	2008-09-17	2008-09-17	2008-09-17	ENSG00000119787	ENSG00000119787			24047	protein-coding gene	gene with protein product		609368	"""ADP-ribosylation factor-like 6 interacting protein 2"""	ARL6IP2		10508919, 18270207	Standard	NM_022374		Approved		uc002rqq.3	Q8NHH9	OTTHUMG00000102074	ENST00000378954.4:c.846delG	2.37:g.38537548delC	ENSP00000368237:p.Lys282fs					ATL2_uc010ynm.1_Frame_Shift_Del_p.K264fs|ATL2_uc010ynn.1_Frame_Shift_Del_p.K264fs|ATL2_uc010yno.1_Frame_Shift_Del_p.K111fs|ATL2_uc002rqs.2_Frame_Shift_Del_p.K282fs|ATL2_uc002rqr.2_Frame_Shift_Del_p.K111fs	p.K282fs	NM_001135673	NP_001129145	Q8NHH9	ATLA2_HUMAN			8	876	-			282			Potential.|Cytoplasmic.		B7Z1X2|B7Z7X8|Q4ZG30|Q7Z630|Q8NHH8|Q9H5M7	Frame_Shift_Del	DEL	ENST00000378954.4	37	c.846delG	CCDS46260.1																																																																																					0.368	ATL2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219886.2	NM_022374		71	42	71	42	---	---	---	---
BOLA3	388962	broad.mit.edu	37	2	74372362	74372362	+	Frame_Shift_Del	DEL	T	T	-			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr2:74372362delT	ENST00000327428.5	-	2	242	c.123delA	c.(121-123)aaafs	p.K41fs	BOLA3-AS1_ENST00000533563.1_RNA|BOLA3-AS1_ENST00000529783.1_RNA|BOLA3_ENST00000295326.4_Frame_Shift_Del_p.K41fs|BOLA3-AS1_ENST00000423477.2_RNA	NM_212552.2	NP_997717.2	Q53S33	BOLA3_HUMAN	bolA family member 3	41						extracellular region (GO:0005576)				large_intestine(1)|lung(1)	2						GAAACTTTTCTTTGAGAATTT	0.483																																						uc002skc.1																			0					0						c.(121-123)AAAfs		bolA-like 3 isoform 1							100.0	99.0	99.0					2																	74372362		2203	4300	6503	SO:0001589	frameshift_variant	388962					extracellular region		g.chr2:74372362delT	BC017744	CCDS33224.1, CCDS33225.1	2p13.1	2013-09-02	2013-09-02		ENSG00000163170	ENSG00000163170			24415	protein-coding gene	gene with protein product		613183	"""bolA-like 3 (E. coli)"", ""bolA homolog 3 (E. coli)"""			14718656	Standard	NM_001035505		Approved		uc002skc.1	Q53S33	OTTHUMG00000152834	ENST00000327428.5:c.123delA	2.37:g.74372362delT	ENSP00000331369:p.Lys41fs					BOLA3_uc002skd.1_Frame_Shift_Del_p.K41fs|uc002ske.2_5'Flank|uc002skf.2_5'Flank|uc002skg.2_5'Flank	p.K41fs	NM_212552	NP_997717	Q53S33	BOLA3_HUMAN			2	161	-			41					G3XAB0	Frame_Shift_Del	DEL	ENST00000327428.5	37	c.123delA	CCDS33225.1																																																																																					0.483	BOLA3-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000328207.2	NM_212552		92	69	92	69	---	---	---	---
PTPN18	26469	broad.mit.edu	37	2	131129929	131129934	+	In_Frame_Del	DEL	GACGGG	GACGGG	-	rs112040677	byFrequency	TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr2:131129929_131129934delGACGGG	ENST00000175756.5	+	13	1214_1219	c.1113_1118delGACGGG	c.(1111-1119)cagacgggg>cag	p.TG378del	PTPN18_ENST00000347849.3_In_Frame_Del_p.TG271del	NM_014369.3	NP_055184.2	Q99952	PTN18_HUMAN	protein tyrosine phosphatase, non-receptor type 18 (brain-derived)	378				Missing (in Ref. 1; CAA56105). {ECO:0000305}.	peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	non-membrane spanning protein tyrosine phosphatase activity (GO:0004726)	p.T378_G379delTG(1)		endometrium(1)|kidney(3)|large_intestine(2)|lung(5)|ovary(3)|prostate(1)	15	Colorectal(110;0.1)					gtgggacgcagacggggacggggacg	0.777														1724	0.344249	0.6324	0.2349	5008	,	,		12983	0.3214		0.2008	False		,,,				2504	0.2035					uc002trc.2																			1	Deletion - In frame(1)		prostate(1)	ovary(3)|kidney(1)	4						c.(1111-1119)CAGACGGGG>CAG		protein tyrosine phosphatase, non-receptor type			,	1068,966		446,176,395					,	-3.8	0.0		dbSNP_132	3	951,4205		280,391,1907	no	coding,coding	PTPN18	NM_014369.3,NM_001142370.1	,	726,567,2302	A1A1,A1R,RR		18.4445,47.4926,28.0807	,	,		2019,5171				SO:0001651	inframe_deletion	26469					cytoplasm|nucleus	non-membrane spanning protein tyrosine phosphatase activity	g.chr2:131129929_131129934delGACGGG	X79568	CCDS2161.1, CCDS46410.1	2q21	2011-06-09			ENSG00000072135	ENSG00000072135		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"""	9649	protein-coding gene	gene with protein product		606587				8950995	Standard	NM_014369		Approved	BDP1	uc002trc.3	Q99952	OTTHUMG00000131630	ENST00000175756.5:c.1113_1118delGACGGG	2.37:g.131129935_131129940delGACGGG	ENSP00000175756:p.Thr378_Gly379del					PTPN18_uc002trd.2_In_Frame_Del_p.TG357del|PTPN18_uc002trb.2_In_Frame_Del_p.TG271del|PTPN18_uc002tre.2_In_Frame_Del_p.TG29del	p.TG378del	NM_014369	NP_055184	Q99952	PTN18_HUMAN			13	1214_1219	+	Colorectal(110;0.1)		378_379	Missing (in Ref. 1; CAA56105).				B4E1E6|Q53P42	In_Frame_Del	DEL	ENST00000175756.5	37	c.1113_1118delGACGGG	CCDS2161.1																																																																																					0.777	PTPN18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254523.2			8	4	8	4	---	---	---	---
VENTXP7	391518	broad.mit.edu	37	3	21447903	21447904	+	IGR	INS	-	-	CA	rs555281269	byFrequency	TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr3:21447903_21447904insCA								AC104183.1 (17794 upstream) : RP11-180N14.1 (5809 downstream)																							GGCATACCACCCCCCACGCCCA	0.653																																						uc003ccd.2																			0					0								Homo sapiens VENT homeobox (Xenopus laevis) pseudogene 7 (VENTXP7), non-coding RNA.																																				SO:0001628	intergenic_variant	391518							g.chr3:21447903_21447904insCA																													3.37:g.21447903_21447904insCA								NR_002311						1		+									RNA	INS		37	c.686_687insCA																																																																																				0		0.653									4	3	4	3	---	---	---	---
EPHB3	2049	broad.mit.edu	37	3	184295691	184295691	+	Frame_Shift_Del	DEL	G	G	-			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr3:184295691delG	ENST00000330394.2	+	8	2097	c.1645delG	c.(1645-1647)gggfs	p.G549fs	EIF2B5_ENST00000444495.1_Intron	NM_004443.3	NP_004434.2	P54753	EPHB3_HUMAN	EPH receptor B3	549					angiogenesis (GO:0001525)|axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|cell migration (GO:0016477)|central nervous system projection neuron axonogenesis (GO:0021952)|corpus callosum development (GO:0022038)|dendritic spine development (GO:0060996)|dendritic spine morphogenesis (GO:0060997)|digestive tract morphogenesis (GO:0048546)|ephrin receptor signaling pathway (GO:0048013)|palate development (GO:0060021)|positive regulation of synapse assembly (GO:0051965)|protein autophosphorylation (GO:0046777)|regulation of axonogenesis (GO:0050770)|regulation of Cdc42 GTPase activity (GO:0043088)|regulation of cell-cell adhesion (GO:0022407)|regulation of Rac GTPase activity (GO:0032314)|retinal ganglion cell axon guidance (GO:0031290)|substrate adhesion-dependent cell spreading (GO:0034446)|thymus development (GO:0048538)|urogenital system development (GO:0001655)	cell projection (GO:0042995)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|axon guidance receptor activity (GO:0008046)|ephrin receptor activity (GO:0005003)			breast(5)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(22)|ovary(5)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	51	all_cancers(143;1.89e-10)|Ovarian(172;0.0339)		Epithelial(37;1.27e-34)|OV - Ovarian serous cystadenocarcinoma(80;3.8e-22)			TCCAGGCTCTGGGGCCCAGCA	0.632																																						uc003foz.2																			0				lung(5)|breast(2)|upper_aerodigestive_tract(1)|stomach(1)|skin(1)|ovary(1)	11						c.(1645-1647)GGGfs		ephrin receptor EphB3 precursor							78.0	79.0	79.0					3																	184295691		2203	4300	6503	SO:0001589	frameshift_variant	2049					integral to plasma membrane	ATP binding|ephrin receptor activity	g.chr3:184295691delG	X75208	CCDS3268.1	3q27.1	2013-09-19	2004-10-28		ENSG00000182580	ENSG00000182580		"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3394	protein-coding gene	gene with protein product		601839	"""EphB3"""	ETK2		8397371	Standard	NM_004443		Approved	Hek2, Tyro6	uc003foz.3	P54753	OTTHUMG00000156710	ENST00000330394.2:c.1645delG	3.37:g.184295691delG	ENSP00000332118:p.Gly549fs						p.G549fs	NM_004443	NP_004434	P54753	EPHB3_HUMAN	Epithelial(37;1.27e-34)|OV - Ovarian serous cystadenocarcinoma(80;3.8e-22)		8	2082	+	all_cancers(143;1.89e-10)|Ovarian(172;0.0339)		549			Extracellular (Potential).		Q7Z740	Frame_Shift_Del	DEL	ENST00000330394.2	37	c.1645delG	CCDS3268.1																																																																																					0.632	EPHB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345413.1	NM_004443		48	61	48	61	---	---	---	---
ADAMTS12	81792	broad.mit.edu	37	5	33596054	33596054	+	Frame_Shift_Del	DEL	T	T	-			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr5:33596054delT	ENST00000504830.1	-	17	2974	c.2639delA	c.(2638-2640)aagfs	p.K880fs	ADAMTS12_ENST00000352040.3_Frame_Shift_Del_p.K795fs|ADAMTS12_ENST00000504582.1_5'UTR	NM_030955.2	NP_112217.2	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 12	880	TSP type-1 2. {ECO:0000255|PROSITE- ProRule:PRU00210}.				cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|cellular response to BMP stimulus (GO:0071773)|cellular response to interleukin-1 (GO:0071347)|cellular response to tumor necrosis factor (GO:0071356)|negative regulation of cellular response to hepatocyte growth factor stimulus (GO:2001113)|negative regulation of cellular response to vascular endothelial growth factor stimulus (GO:1902548)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of hepatocyte growth factor receptor signaling pathway (GO:1902203)|proteoglycan catabolic process (GO:0030167)|proteolysis involved in cellular protein catabolic process (GO:0051603)|regulation of endothelial tube morphogenesis (GO:1901509)|regulation of inflammatory response (GO:0050727)	extracellular matrix (GO:0031012)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	216						TGGACAAGCCTTTTCATGGCA	0.502										HNSCC(64;0.19)																												uc003jia.1																			0				ovary(4)|skin(2)|upper_aerodigestive_tract(1)|lung(1)|kidney(1)	9						c.(2638-2640)AAGfs		ADAM metallopeptidase with thrombospondin type 1							226.0	189.0	202.0					5																	33596054		2203	4300	6503	SO:0001589	frameshift_variant	81792				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr5:33596054delT	AJ250725	CCDS34140.1	5q35	2008-07-18	2005-08-19		ENSG00000151388	ENSG00000151388		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	14605	protein-coding gene	gene with protein product		606184	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 12"""			11279086	Standard	NM_030955		Approved		uc003jia.1	P58397	OTTHUMG00000162088	ENST00000504830.1:c.2639delA	5.37:g.33596054delT	ENSP00000422554:p.Lys880fs	HNSCC(64;0.19)				ADAMTS12_uc010iuq.1_Frame_Shift_Del_p.K795fs	p.K880fs	NM_030955	NP_112217	P58397	ATS12_HUMAN			17	2802	-			880			TSP type-1 2.		A2RRN9|A5D6V6|Q6UWL3	Frame_Shift_Del	DEL	ENST00000504830.1	37	c.2639delA	CCDS34140.1																																																																																					0.502	ADAMTS12-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367164.2	NM_030955		130	76	130	76	---	---	---	---
ANKHD1	54882	broad.mit.edu	37	5	139908801	139908802	+	Frame_Shift_Ins	INS	-	-	G			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr5:139908801_139908802insG	ENST00000360839.2	+	29	6424_6425	c.6270_6271insG	c.(6271-6273)cctfs	p.P2091fs	ANKHD1-EIF4EBP3_ENST00000532219.1_Frame_Shift_Ins_p.P2091fs|ANKHD1_ENST00000297183.6_Frame_Shift_Ins_p.P2091fs|ANKHD1_ENST00000544120.1_Frame_Shift_Ins_p.P474fs|SNORD45_ENST00000363181.1_RNA	NM_017747.2	NP_060217.1	Q8IWZ3	ANKH1_HUMAN	ankyrin repeat and KH domain containing 1	2091	Ser-rich.					cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)			breast(2)|endometrium(8)|kidney(6)|large_intestine(14)|lung(18)|ovary(5)|prostate(2)|skin(3)|urinary_tract(2)	60			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTGATTTAAGTCCTATGTCAAT	0.48																																						uc003lfs.1																			0				ovary(6)	6						c.(6268-6273)AGTCCTfs		ANKHD1-EIF4EBP3 protein																																				SO:0001589	frameshift_variant	404734					cytoplasm|nucleus	RNA binding	g.chr5:139908801_139908802insG	AF521882	CCDS4225.1, CCDS43371.1, CCDS43372.1, CCDS75319.1	5q31.3	2013-01-10			ENSG00000131503	ENSG00000131503		"""Ankyrin repeat domain containing"""	24714	protein-coding gene	gene with protein product		610500				10470851, 11230166, 16098192	Standard	NM_017747		Approved	MASK, FLJ20288, FLJ11979, FLJ10042, FLJ14127, KIAA1085		Q8IWZ3	OTTHUMG00000161610	Exception_encountered	5.37:g.139908801_139908802insG	ENSP00000354085:p.Pro2091fs					ANKHD1_uc003lfr.2_Frame_Shift_Ins_p.S2090fs|ANKHD1-EIF4EBP3_uc011czh.1_Frame_Shift_Ins_p.S829fs|ANKHD1_uc003lfw.2_Frame_Shift_Ins_p.S728fs|ANKHD1_uc010jfl.2_Frame_Shift_Ins_p.S525fs|ANKHD1-EIF4EBP3_uc003lfx.1_Frame_Shift_Ins_p.S227fs	p.S2090fs	NM_020690	NP_065741	Q8IWZ2	Q8IWZ2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		29	6394_6395	+			2090_2091					A6NH85|Q149P2|Q8IWZ2|Q8WY90|Q96G77|Q96GK0|Q9H2U0|Q9HA95|Q9NWG4|Q9UPR7	Frame_Shift_Ins	INS	ENST00000360839.2	37	c.6270_6271insG	CCDS4225.1																																																																																					0.480	ANKHD1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000251672.1	NM_017747		150	170	150	170	---	---	---	---
GABRA6	2559	broad.mit.edu	37	5	161119134	161119134	+	Frame_Shift_Del	DEL	G	G	-			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr5:161119134delG	ENST00000274545.5	+	8	1447	c.1014delG	c.(1012-1014)aagfs	p.K338fs	GABRA6_ENST00000523217.1_Frame_Shift_Del_p.K328fs|RP11-348M17.2_ENST00000521984.1_RNA			Q16445	GBRA6_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 6	338					gamma-aminobutyric acid signaling pathway (GO:0007214)|ion transmembrane transport (GO:0034220)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	benzodiazepine receptor activity (GO:0008503)|chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)			breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(9)|liver(2)|lung(22)|ovary(7)|skin(6)|urinary_tract(2)	57	Renal(175;0.00259)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		Acamprosate(DB00659)|Alprazolam(DB00404)|Amobarbital(DB01351)|Amoxapine(DB00543)|Aprobarbital(DB01352)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Flumazenil(DB01205)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Thiopental(DB00599)|Topiramate(DB00273)|Triazolam(DB00897)	CCAAAAGGAAGGCACAGTTTG	0.428										TCGA Ovarian(5;0.080)																												uc003lyu.2																			0				ovary(7)|skin(3)|large_intestine(1)|central_nervous_system(1)	12						c.(1012-1014)AAGfs		gamma-aminobutyric acid A receptor, alpha 6	Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)						161.0	140.0	147.0					5																	161119134		2203	4300	6503	SO:0001589	frameshift_variant	2559				gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity	g.chr5:161119134delG		CCDS4356.1	5q34	2012-06-22			ENSG00000145863	ENSG00000145863		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4080	protein-coding gene	gene with protein product	"""GABA(A) receptor, alpha 6"""	137143				8020978	Standard	NM_000811		Approved		uc003lyu.2	Q16445	OTTHUMG00000130351	ENST00000274545.5:c.1014delG	5.37:g.161119134delG	ENSP00000274545:p.Lys338fs	TCGA Ovarian(5;0.080)				GABRA6_uc003lyv.2_Frame_Shift_Del_p.K109fs	p.K338fs	NM_000811	NP_000802	Q16445	GBRA6_HUMAN	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		8	1352	+	Renal(175;0.00259)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	338			Cytoplasmic (Probable).		A8K096|Q4VAV2	Frame_Shift_Del	DEL	ENST00000274545.5	37	c.1014delG	CCDS4356.1																																																																																					0.428	GABRA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252707.2			57	60	57	60	---	---	---	---
STK10	6793	broad.mit.edu	37	5	171533644	171533644	+	Frame_Shift_Del	DEL	C	C	-			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr5:171533644delC	ENST00000176763.5	-	6	1111	c.768delG	c.(766-768)acgfs	p.T256fs		NM_005990.3	NP_005981.3	O94804	STK10_HUMAN	serine/threonine kinase 10	256	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell cycle (GO:0007049)|lymphocyte aggregation (GO:0071593)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of lymphocyte migration (GO:2000401)|signal transduction by phosphorylation (GO:0023014)	extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|polo kinase kinase activity (GO:0042801)|protein homodimerization activity (GO:0042803)|protein serine/threonine kinase activity (GO:0004674)	p.T256I(1)		breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(6)|pancreas(1)|prostate(1)|testis(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	47	Renal(175;0.000159)|Lung NSC(126;0.0056)|all_lung(126;0.0094)	Medulloblastoma(196;0.00868)|all_neural(177;0.026)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			GCGTGAGCAGCGTGGGAGGGT	0.662											OREG0017039	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc003mbo.1																			1	Substitution - Missense(1)		ovary(1)	ovary(3)|lung(2)|testis(1)|breast(1)|pancreas(1)	8						c.(766-768)ACGfs		serine/threonine kinase 10							85.0	78.0	81.0					5																	171533644		2203	4300	6503	SO:0001589	frameshift_variant	6793						ATP binding|protein serine/threonine kinase activity	g.chr5:171533644delC	AB015718	CCDS34290.1	5q35.1	2008-07-18			ENSG00000072786	ENSG00000072786			11388	protein-coding gene	gene with protein product		603919				10199912	Standard	NM_005990		Approved	LOK, PRO2729	uc003mbo.1	O94804	OTTHUMG00000163265	ENST00000176763.5:c.768delG	5.37:g.171533644delC	ENSP00000176763:p.Thr256fs		OREG0017039	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1893		p.T256fs	NM_005990	NP_005981	O94804	STK10_HUMAN	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)		6	1068	-	Renal(175;0.000159)|Lung NSC(126;0.0056)|all_lung(126;0.0094)	Medulloblastoma(196;0.00868)|all_neural(177;0.026)	256			Protein kinase.		A6ND35|B2R8F5|B3KMY1|Q6NSK0|Q9UIW4	Frame_Shift_Del	DEL	ENST00000176763.5	37	c.768delG	CCDS34290.1																																																																																					0.662	STK10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372374.2	NM_005990		28	26	28	26	---	---	---	---
SGK1	6446	broad.mit.edu	37	6	134583250	134583250	+	Frame_Shift_Del	DEL	C	C	-			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr6:134583250delC	ENST00000367858.5	-	2	703	c.106delG	c.(106-108)gacfs	p.D36fs	SGK1_ENST00000524929.1_Frame_Shift_Del_p.D36fs	NM_001143676.1	NP_001137148.1	O00141	SGK1_HUMAN	serum/glucocorticoid regulated kinase 1	0	Necessary for localization to the mitochondria.				apoptotic process (GO:0006915)|cellular response to DNA damage stimulus (GO:0006974)|ion transmembrane transport (GO:0034220)|long-term memory (GO:0007616)|positive regulation of transporter activity (GO:0032411)|protein phosphorylation (GO:0006468)|regulation of apoptotic process (GO:0042981)|regulation of blood pressure (GO:0008217)|regulation of catalytic activity (GO:0050790)|regulation of cell growth (GO:0001558)|regulation of cell migration (GO:0030334)|regulation of cell proliferation (GO:0042127)|regulation of gastric acid secretion (GO:0060453)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|renal sodium ion absorption (GO:0070294)|response to stress (GO:0006950)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium channel regulator activity (GO:0005246)|chloride channel regulator activity (GO:0017081)|potassium channel regulator activity (GO:0015459)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|sodium channel regulator activity (GO:0017080)	p.D36Y(1)		central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(21)|kidney(3)|large_intestine(3)|lung(10)|ovary(1)|skin(4)|stomach(1)	46	Colorectal(23;0.221)			OV - Ovarian serous cystadenocarcinoma(155;0.00317)|GBM - Glioblastoma multiforme(68;0.00847)		TGATGCTTGTCCACACTGACC	0.493																																						uc003qeo.3																			1	Substitution - Missense(1)		endometrium(1)	skin(3)|stomach(1)|lung(1)|central_nervous_system(1)	6						c.(106-108)GACfs		serum/glucocorticoid regulated kinase 1 isoform							248.0	216.0	226.0					6																	134583250		1568	3582	5150	SO:0001589	frameshift_variant	6446				apoptosis|response to stress|sodium ion transport	endoplasmic reticulum|nucleus|plasma membrane	ATP binding|protein binding|protein serine/threonine kinase activity	g.chr6:134583250delC	AJ000512	CCDS5170.1, CCDS47476.1, CCDS47477.1, CCDS47478.1	6q23	2008-02-05	2007-12-05	2007-12-05	ENSG00000118515	ENSG00000118515			10810	protein-coding gene	gene with protein product		602958	"""serum/glucocorticoid regulated kinase"""	SGK		9114008, 9722955	Standard	NM_005627		Approved		uc003qeo.4	O00141	OTTHUMG00000015613	ENST00000367858.5:c.106delG	6.37:g.134583250delC	ENSP00000356832:p.Asp36fs					SGK1_uc003qep.2_Frame_Shift_Del_p.D36fs	p.D36fs	NM_001143676	NP_001137148	O00141	SGK1_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;0.00317)|GBM - Glioblastoma multiforme(68;0.00847)	2	704	-	Colorectal(23;0.221)		Error:Variant_position_missing_in_O00141_after_alignment					B7UUP7|B7UUP8|B7UUP9|B7Z5B2|E1P583|Q5TCN2|Q5TCN3|Q5TCN4|Q5VY65|Q9UN56	Frame_Shift_Del	DEL	ENST00000367858.5	37	c.106delG	CCDS47476.1																																																																																					0.493	SGK1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000042304.2			142	133	142	133	---	---	---	---
CTTNBP2	83992	broad.mit.edu	37	7	117431274	117431274	+	Frame_Shift_Del	DEL	G	G	-			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr7:117431274delG	ENST00000160373.3	-	4	2067	c.1976delC	c.(1975-1977)cctfs	p.P659fs	CTTNBP2_ENST00000487820.1_5'Flank	NM_033427.2	NP_219499.1	Q8WZ74	CTTB2_HUMAN	cortactin binding protein 2	659					brain development (GO:0007420)	cell projection (GO:0042995)|synaptic vesicle (GO:0008021)				breast(3)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(36)|ovary(4)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	83	Lung NSC(10;0.0018)|all_lung(10;0.002)			LUSC - Lung squamous cell carcinoma(290;0.133)		AATGGTGGTAGGAATGACAAG	0.562																																						uc003vjf.2																			0				ovary(4)|central_nervous_system(1)	5						c.(1975-1977)CCTfs		cortactin binding protein 2							124.0	109.0	114.0					7																	117431274		2203	4300	6503	SO:0001589	frameshift_variant	83992							g.chr7:117431274delG		CCDS5774.1	7q31	2013-01-10	2004-06-08	2004-06-09	ENSG00000077063	ENSG00000077063		"""Ankyrin repeat domain containing"""	15679	protein-coding gene	gene with protein product		609772	"""cortactin binding protein 2"""	CORTBP2, C7orf8		11707066	Standard	XM_005250635		Approved	KIAA1758, Orf4	uc003vjf.3	Q8WZ74	OTTHUMG00000022880	ENST00000160373.3:c.1976delC	7.37:g.117431274delG	ENSP00000160373:p.Pro659fs						p.P659fs	NM_033427	NP_219499	Q8WZ74	CTTB2_HUMAN		LUSC - Lung squamous cell carcinoma(290;0.133)	4	2068	-	Lung NSC(10;0.0018)|all_lung(10;0.002)		659					O43389|Q7LG11|Q9C0A5	Frame_Shift_Del	DEL	ENST00000160373.3	37	c.1976delC	CCDS5774.1																																																																																					0.562	CTTNBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059201.4	NM_033427		95	43	95	43	---	---	---	---
MAFA	389692	broad.mit.edu	37	8	144511677	144511678	+	Frame_Shift_Ins	INS	-	-	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr8:144511677_144511678insA	ENST00000333480.2	-	1	898_899	c.899_900insT	c.(898-900)gtgfs	p.V300fs	MAFA_ENST00000528185.1_Intron	NM_201589.3	NP_963883.2	Q8NHW3	MAFA_HUMAN	v-maf avian musculoaponeurotic fibrosarcoma oncogene homolog A	300	Leucine-zipper.|bZIP. {ECO:0000255|PROSITE- ProRule:PRU00978}.				insulin secretion (GO:0030073)|nitric oxide mediated signal transduction (GO:0007263)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to glucose (GO:0009749)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|lung(1)|upper_aerodigestive_tract(2)	4	all_cancers(97;7.39e-11)|all_epithelial(106;5.44e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		Colorectal(110;0.107)|BRCA - Breast invasive adenocarcinoma(115;0.237)			CCAGGCGCCCCACCTCCAGCTT	0.688										HNSCC(29;0.082)																												uc003yyc.1																			0					0						c.(898-900)GTGfs		v-maf musculoaponeurotic fibrosarcoma oncogene																																				SO:0001589	frameshift_variant	389692				insulin secretion|nitric oxide mediated signal transduction|response to glucose stimulus	nucleus	protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr8:144511677_144511678insA	AY083269	CCDS34955.1	8q24.3	2013-07-09	2013-07-09			ENSG00000182759			23145	protein-coding gene	gene with protein product		610303					Standard	NM_201589		Approved	RIPE3b1, hMafA	uc003yyc.2	Q8NHW3		ENST00000333480.2:c.900dupT	8.37:g.144511678_144511678dupA	ENSP00000328364:p.Val300fs	HNSCC(29;0.082)					p.V300fs	NM_201589	NP_963883	Q8NHW3	MAFA_HUMAN	Colorectal(110;0.107)|BRCA - Breast invasive adenocarcinoma(115;0.237)		1	899_900	-	all_cancers(97;7.39e-11)|all_epithelial(106;5.44e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		300			Leucine-zipper.			Frame_Shift_Ins	INS	ENST00000333480.2	37	c.899_900insT	CCDS34955.1																																																																																					0.688	MAFA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381511.2	NM_201589		42	23	42	23	---	---	---	---
MPDZ	8777	broad.mit.edu	37	9	13107037	13107037	+	Frame_Shift_Del	DEL	C	C	-			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr9:13107037delC	ENST00000319217.7	-	47	6387	c.6140delG	c.(6139-6141)ggafs	p.G2047fs	MPDZ_ENST00000447879.1_Frame_Shift_Del_p.G2014fs|MPDZ_ENST00000381022.2_Frame_Shift_Del_p.G2018fs|MPDZ_ENST00000541093.1_Frame_Shift_Del_p.G281fs|MPDZ_ENST00000541718.1_Frame_Shift_Del_p.G2018fs|MPDZ_ENST00000381015.4_Frame_Shift_Del_p.G2047fs|MPDZ_ENST00000536827.1_Frame_Shift_Del_p.G1985fs|MPDZ_ENST00000538841.1_Frame_Shift_Del_p.G906fs|MPDZ_ENST00000546205.1_Frame_Shift_Del_p.G2061fs	NM_001261406.1	NP_001248335.1	O75970	MPDZ_HUMAN	multiple PDZ domain protein	2047	PDZ 13. {ECO:0000255|PROSITE- ProRule:PRU00143}.				cell adhesion (GO:0007155)|myelination (GO:0042552)|viral process (GO:0016032)	apical plasma membrane (GO:0016324)|apicolateral plasma membrane (GO:0016327)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|neuron projection (GO:0043005)|postsynaptic membrane (GO:0045211)|Schmidt-Lanterman incisure (GO:0043220)|tight junction (GO:0005923)	protein C-terminus binding (GO:0008022)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(15)|ovary(5)|prostate(7)|stomach(1)|urinary_tract(2)	61				GBM - Glioblastoma multiforme(50;2.03e-06)		ATGGGTGACTCCTTCTAGACT	0.463																																						uc010mhy.2																			0				ovary(5)|central_nervous_system(1)	6						c.(6052-6054)GGAfs		multiple PDZ domain protein							220.0	221.0	220.0					9																	13107037		2017	4183	6200	SO:0001589	frameshift_variant	8777				interspecies interaction between organisms	apical plasma membrane|dendrite|postsynaptic density|postsynaptic membrane|synaptosome|tight junction	protein C-terminus binding	g.chr9:13107037delC	AF093419	CCDS47951.1, CCDS59119.1, CCDS59120.1	9p23	2008-05-15			ENSG00000107186	ENSG00000107186			7208	protein-coding gene	gene with protein product		603785					Standard	NM_003829		Approved	MUPP1	uc003zlb.4	O75970	OTTHUMG00000021031	ENST00000319217.7:c.6140delG	9.37:g.13107037delC	ENSP00000320006:p.Gly2047fs					MPDZ_uc003zkx.3_Frame_Shift_Del_p.G242fs|MPDZ_uc003zky.3_Frame_Shift_Del_p.G581fs|MPDZ_uc010mib.2_Frame_Shift_Del_p.G752fs|MPDZ_uc010mhx.2_Frame_Shift_Del_p.G869fs|MPDZ_uc011lmm.1_Frame_Shift_Del_p.G906fs|MPDZ_uc003zkz.3_Frame_Shift_Del_p.G740fs|MPDZ_uc010mhz.2_Frame_Shift_Del_p.G2014fs|MPDZ_uc011lmn.1_Frame_Shift_Del_p.G1985fs|MPDZ_uc003zlb.3_Frame_Shift_Del_p.G2018fs	p.G2018fs	NM_003829	NP_003820	O75970	MPDZ_HUMAN		GBM - Glioblastoma multiforme(50;2.03e-06)	45	6104	-			2047			PDZ 13.		A6NLC2|B2RTS3|B7ZMI4|O43798|Q4LE30|Q5CZ80|Q5JTX3|Q5JTX6|Q5JTX7|Q5JUC3|Q5JUC4|Q5VZ62|Q8N790	Frame_Shift_Del	DEL	ENST00000319217.7	37	c.6053delG																																																																																						0.463	MPDZ-001	KNOWN	not_organism_supported|basic	protein_coding	protein_coding	OTTHUMT00000055485.2	NM_003829		109	136	109	136	---	---	---	---
LINGO2	158038	broad.mit.edu	37	9	27950283	27950283	+	Frame_Shift_Del	DEL	G	G	-			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr9:27950283delG	ENST00000379992.2	-	6	836	c.387delC	c.(385-387)tccfs	p.S129fs	LINGO2_ENST00000308675.3_Frame_Shift_Del_p.S129fs	NM_152570.2	NP_689783.1	Q7L985	LIGO2_HUMAN	leucine rich repeat and Ig domain containing 2	129						integral component of membrane (GO:0016021)				autonomic_ganglia(1)|breast(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(1)|lung(13)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	44	Melanoma(11;0.242)	all_neural(11;2.78e-09)		UCEC - Uterine corpus endometrioid carcinoma (5;0.0818)|GBM - Glioblastoma multiforme(2;1.31e-34)|all cancers(2;2.37e-25)|Lung(2;7.48e-08)|LUSC - Lung squamous cell carcinoma(38;5.09e-07)|KIRC - Kidney renal clear cell carcinoma(2;0.0465)|Kidney(2;0.0604)		TAGTGAGATTGGACAGCCCCG	0.443																																						uc003zqu.1																			0				upper_aerodigestive_tract(1)|ovary(1)|central_nervous_system(1)	3						c.(385-387)TCCfs		leucine rich repeat and Ig domain containing 2							96.0	92.0	93.0					9																	27950283		2203	4300	6503	SO:0001589	frameshift_variant	158038					integral to membrane		g.chr9:27950283delG	AL353746	CCDS6524.1	9p21.2	2013-01-11	2007-02-01	2007-02-01	ENSG00000174482	ENSG00000174482		"""Immunoglobulin superfamily / I-set domain containing"""	21207	protein-coding gene	gene with protein product		609793	"""leucine rich repeat neuronal 6C"""	LRRN6C		14686891	Standard	NM_152570		Approved	LERN3	uc003zqu.2	Q7L985	OTTHUMG00000019721	ENST00000379992.2:c.387delC	9.37:g.27950283delG	ENSP00000369328:p.Ser129fs					LINGO2_uc010mjf.1_Frame_Shift_Del_p.S129fs|LINGO2_uc003zqv.1_Frame_Shift_Del_p.S129fs	p.S129fs	NM_152570	NP_689783	Q7L985	LIGO2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (5;0.0818)|GBM - Glioblastoma multiforme(2;1.31e-34)|all cancers(2;2.37e-25)|Lung(2;7.48e-08)|LUSC - Lung squamous cell carcinoma(38;5.09e-07)|KIRC - Kidney renal clear cell carcinoma(2;0.0465)|Kidney(2;0.0604)	2	581	-	Melanoma(11;0.242)	all_neural(11;2.78e-09)	129			Extracellular (Potential).		A8K4K7|B2RPM5|Q6ZMD0	Frame_Shift_Del	DEL	ENST00000379992.2	37	c.387delC	CCDS6524.1																																																																																					0.443	LINGO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051978.2	NM_152570		63	97	63	97	---	---	---	---
TRUB1	142940	broad.mit.edu	37	10	116734977	116734978	+	Frame_Shift_Ins	INS	-	-	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr10:116734977_116734978insT	ENST00000298746.3	+	8	950_951	c.889_890insT	c.(889-891)attfs	p.I297fs		NM_139169.4	NP_631908.1	Q8WWH5	TRUB1_HUMAN	TruB pseudouridine (psi) synthase family member 1	297					pseudouridine synthesis (GO:0001522)|tRNA processing (GO:0008033)		pseudouridine synthase activity (GO:0009982)|RNA binding (GO:0003723)			breast(2)|kidney(2)|large_intestine(1)|lung(5)|urinary_tract(2)	12		Colorectal(252;0.09)|Breast(234;0.174)|Lung NSC(174;0.245)		Epithelial(162;0.00879)|all cancers(201;0.0243)		CAAATGGACAATTGATGACATT	0.436																																						uc001lcd.2																			0					0						c.(889-891)ATTfs		TruB pseudouridine (psi) synthase homolog 1																																				SO:0001589	frameshift_variant	142940				pseudouridine synthesis|tRNA processing		pseudouridine synthase activity|RNA binding	g.chr10:116734977_116734978insT	AF448144	CCDS7591.1	10q25.3	2013-09-02	2013-09-02		ENSG00000165832	ENSG00000165832			16060	protein-coding gene	gene with protein product		610726	"""TruB pseudouridine (psi) synthase homolog 1 (E. coli)"""			12736709	Standard	NM_139169		Approved	PUS4	uc001lcd.3	Q8WWH5	OTTHUMG00000019094	ENST00000298746.3:c.891dupT	10.37:g.116734979_116734979dupT	ENSP00000298746:p.Ile297fs					TRUB1_uc010qsl.1_Frame_Shift_Ins_p.I199fs	p.I297fs	NM_139169	NP_631908	Q8WWH5	TRUB1_HUMAN		Epithelial(162;0.00879)|all cancers(201;0.0243)	8	950_951	+		Colorectal(252;0.09)|Breast(234;0.174)|Lung NSC(174;0.245)	297					B2R716|Q53ES2	Frame_Shift_Ins	INS	ENST00000298746.3	37	c.889_890insT	CCDS7591.1																																																																																					0.436	TRUB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050504.1	NM_139169		176	100	176	100	---	---	---	---
CLEC12A	160364	broad.mit.edu	37	12	10137593	10137593	+	Frame_Shift_Del	DEL	C	C	-			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr12:10137593delC	ENST00000304361.4	+	6	948	c.766delC	c.(766-768)cagfs	p.Q256fs	CLEC12A_ENST00000350667.4_Frame_Shift_Del_p.Q223fs|CLEC12A_ENST00000355690.4_Frame_Shift_Del_p.Q266fs	NM_138337.5|NM_201623.3	NP_612210.4|NP_963917.2	Q5QGZ9	CL12A_HUMAN	C-type lectin domain family 12, member A	256						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)			breast(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(6)|skin(2)|upper_aerodigestive_tract(1)	16						caatccagtgcagcttggttc	0.338																																					Melanoma(197;1487 2125 16611 22221 34855)	uc001qwr.3																			0				skin(1)	1						c.(766-768)CAGfs		myeloid inhibitory C-type lectin-like receptor							36.0	31.0	33.0					12																	10137593		2155	4250	6405	SO:0001589	frameshift_variant	160364					integral to membrane|plasma membrane	receptor activity|sugar binding	g.chr12:10137593delC	AY498550	CCDS8608.1, CCDS8609.1, CCDS55803.1, CCDS73442.1	12p13.31	2010-08-17			ENSG00000172322	ENSG00000172322		"""C-type lectin domain containing"""	31713	protein-coding gene	gene with protein product		612088					Standard	NM_201623		Approved	CLL-1, MICL	uc001qwq.3	Q5QGZ9		ENST00000304361.4:c.766delC	12.37:g.10137593delC	ENSP00000302804:p.Gln256fs					CLEC12A_uc001qwq.2_Frame_Shift_Del_p.Q266fs|CLEC12A_uc001qws.3_Frame_Shift_Del_p.Q223fs|CLEC12A_uc001qwt.2_Frame_Shift_Del_p.Q185fs	p.Q256fs	NM_138337	NP_612210	Q5QGZ9	CL12A_HUMAN			6	954	+			256			Extracellular (Potential).		B2RA16|Q6P4H1|Q6RH77|Q6RH78|Q8TDQ6	Frame_Shift_Del	DEL	ENST00000304361.4	37	c.766delC	CCDS8608.1																																																																																					0.338	CLEC12A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000399545.1	NM_138337		16	9	16	9	---	---	---	---
TXNRD1	7296	broad.mit.edu	37	12	104712786	104712789	+	Frame_Shift_Del	DEL	GTCT	GTCT	-	rs539105473		TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr12:104712786_104712789delGTCT	ENST00000529546.1	+	5	487_490	c.262_265delGTCT	c.(262-267)gtctatfs	p.VY88fs	TXNRD1_ENST00000525566.1_Frame_Shift_Del_p.VY276fs|TXNRD1_ENST00000542918.1_Frame_Shift_Del_p.VY176fs|TXNRD1_ENST00000524698.1_Frame_Shift_Del_p.VY126fs|TXNRD1_ENST00000388854.3_Frame_Shift_Del_p.VY178fs|TXNRD1_ENST00000378070.4_Frame_Shift_Del_p.VY225fs|TXNRD1_ENST00000526691.1_Frame_Shift_Del_p.VY178fs|TXNRD1_ENST00000540716.1_Frame_Shift_Del_p.VY88fs|TXNRD1_ENST00000429002.2_Frame_Shift_Del_p.VY276fs|TXNRD1_ENST00000427956.1_Frame_Shift_Del_p.VY241fs|TXNRD1_ENST00000354940.6_Frame_Shift_Del_p.VY126fs|TXNRD1_ENST00000526950.1_Frame_Shift_Del_p.VY195fs|TXNRD1_ENST00000397736.2_Frame_Shift_Del_p.VY170fs|TXNRD1_ENST00000526390.1_Frame_Shift_Del_p.VY170fs|TXNRD1_ENST00000503506.2_Frame_Shift_Del_p.VY126fs			Q16881	TRXR1_HUMAN	thioredoxin reductase 1	276	Glutaredoxin. {ECO:0000255|PROSITE- ProRule:PRU00686}.				cell proliferation (GO:0008283)|cell redox homeostasis (GO:0045454)|cellular lipid metabolic process (GO:0044255)|mesoderm formation (GO:0001707)|nucleobase-containing small molecule interconversion (GO:0015949)|nucleobase-containing small molecule metabolic process (GO:0055086)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)	electron carrier activity (GO:0009055)|flavin adenine dinucleotide binding (GO:0050660)|NADP binding (GO:0050661)|protein disulfide oxidoreductase activity (GO:0015035)|thioredoxin-disulfide reductase activity (GO:0004791)			cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(5)|skin(1)|stomach(1)|urinary_tract(1)	16					Arsenic trioxide(DB01169)|Flavin adenine dinucleotide(DB03147)	GAAAAAAGTCGTCTATGAGAATGC	0.382																																					Ovarian(139;555 1836 9186 9946 10884)	uc010swk.1																			0					0						c.(826-831)GTCTATfs		thioredoxin reductase 1 isoform 3																																				SO:0001589	frameshift_variant	7296				cell redox homeostasis|cellular lipid metabolic process|electron transport chain|nucleobase, nucleoside and nucleotide interconversion|signal transduction|transport	cytosol|nucleolus	electron carrier activity|flavin adenine dinucleotide binding|NADP binding|protein disulfide oxidoreductase activity|thioredoxin-disulfide reductase activity	g.chr12:104712786_104712789delGTCT		CCDS53820.1, CCDS53821.1, CCDS53823.1, CCDS58274.1	12q23-q24.1	2012-03-01							12437	protein-coding gene	gene with protein product		601112				7589432	Standard	NM_001093771		Approved	TXNR, GRIM-12, Trxr1	uc021rcx.2	Q16881		ENST00000529546.1:c.262_265delGTCT	12.37:g.104712786_104712789delGTCT	ENSP00000434919:p.Val88fs					TXNRD1_uc010swl.1_Frame_Shift_Del_p.V126fs|TXNRD1_uc010swm.1_Frame_Shift_Del_p.V178fs|TXNRD1_uc010swn.1_Frame_Shift_Del_p.V126fs|TXNRD1_uc010swo.1_Frame_Shift_Del_p.V126fs|TXNRD1_uc010swp.1_Frame_Shift_Del_p.V88fs|TXNRD1_uc010swq.1_Frame_Shift_Del_p.V176fs|TXNRD1_uc001tku.2_RNA|TXNRD1_uc009zun.2_Frame_Shift_Del_p.V192fs	p.V276fs	NM_001093771	NP_001087240	Q16881	TRXR1_HUMAN			8	848_851	+			276_277					B7Z1F4|B7Z3Y8|B7Z904|E9PMY9|F5H780|Q6FI31|Q6VB40|Q6VB41|Q6VB42|Q6VBP2|Q6VBP3|Q6VBP4|Q6VBP5|Q6VBP9|Q6VBQ0|Q6YNQ1|Q76P53|Q7LA96|Q8WVC8|Q99475|Q9UES8|Q9UH79	Frame_Shift_Del	DEL	ENST00000529546.1	37	c.826_829delGTCT	CCDS58274.1																																																																																					0.382	TXNRD1-004	PUTATIVE	basic|exp_conf|CCDS|seleno	protein_coding	protein_coding	OTTHUMT00000389969.1	NM_003330		45	42	45	42	---	---	---	---
NEO1	4756	broad.mit.edu	37	15	73585763	73585763	+	Frame_Shift_Del	DEL	G	G	-	rs149490246	byFrequency	TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr15:73585763delG	ENST00000339362.5	+	27	4222	c.3775delG	c.(3775-3777)gatfs	p.D1259fs	NEO1_ENST00000261908.6_Frame_Shift_Del_p.D1259fs|NEO1_ENST00000560262.1_Intron|NEO1_ENST00000558964.1_Frame_Shift_Del_p.D1248fs			Q92859	NEO1_HUMAN	neogenin 1	1259					axon guidance (GO:0007411)|cell adhesion (GO:0007155)|iron ion homeostasis (GO:0055072)|muscle cell differentiation (GO:0042692)|myoblast fusion (GO:0007520)|positive regulation of muscle cell differentiation (GO:0051149)|regulation of transcription, DNA-templated (GO:0006355)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)			NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(9)|lung(26)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(2)	57						CCATTCCCTCGATAACCCTCA	0.502																																						uc002avm.3																			0				pancreas(1)	1						c.(3775-3777)GATfs		neogenin homolog 1 precursor							299.0	241.0	260.0					15																	73585763		2198	4297	6495	SO:0001589	frameshift_variant	4756				axon guidance|cell adhesion|positive regulation of muscle cell differentiation	Golgi apparatus|integral to plasma membrane|nucleus		g.chr15:73585763delG	U61262	CCDS10247.1, CCDS53957.1, CCDS58378.1	15q22.3-q23	2014-06-20	2010-06-24		ENSG00000067141	ENSG00000067141		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	7754	protein-coding gene	gene with protein product	"""immunoglobulin superfamily, DCC subclass, member 2"""	601907	"""neogenin (chicken) homolog 1"""			9121761	Standard	NM_002499		Approved	NGN, HsT17534, IGDCC2, NTN1R2	uc002avm.4	Q92859	OTTHUMG00000133509	ENST00000339362.5:c.3775delG	15.37:g.73585763delG	ENSP00000341198:p.Asp1259fs					NEO1_uc010ukx.1_Frame_Shift_Del_p.D1248fs|NEO1_uc010uky.1_Intron|NEO1_uc010ukz.1_Frame_Shift_Del_p.D672fs|NEO1_uc002avn.3_Frame_Shift_Del_p.D897fs	p.D1259fs	NM_002499	NP_002490	Q92859	NEO1_HUMAN			26	3917	+			1259			Cytoplasmic (Potential).		B7ZKM9|B7ZKN0|O00340|Q17RX1	Frame_Shift_Del	DEL	ENST00000339362.5	37	c.3775delG	CCDS10247.1																																																																																					0.502	NEO1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257472.2	NM_002499		192	122	192	122	---	---	---	---
CORO7	79585	broad.mit.edu	37	16	4414342	4414342	+	Frame_Shift_Del	DEL	C	C	-			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr16:4414342delC	ENST00000251166.4	-	14	1355	c.1210delG	c.(1210-1212)gagfs	p.E404fs	CORO7_ENST00000537233.2_Frame_Shift_Del_p.E386fs|CORO7_ENST00000574025.1_Frame_Shift_Del_p.E319fs|CORO7_ENST00000539968.1_Frame_Shift_Del_p.E184fs|CORO7-PAM16_ENST00000572467.1_Frame_Shift_Del_p.E404fs|CORO7_ENST00000423908.2_Frame_Shift_Del_p.E236fs	NM_024535.4	NP_078811.3	P57737	CORO7_HUMAN	coronin 7	404					actin filament polymerization (GO:0030041)|Golgi to endosome transport (GO:0006895)|protein transport (GO:0015031)	cytoplasmic vesicle (GO:0031410)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|trans-Golgi network (GO:0005802)	actin binding (GO:0003779)			breast(3)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(8)|prostate(2)|skin(2)|urinary_tract(2)	23						GGGAGGGGCTCCGCAGGGGGC	0.682																																						uc002cwh.3																			0					0						c.(1210-1212)GAGfs		coronin 7							18.0	19.0	18.0					16																	4414342		2195	4290	6485	SO:0001589	frameshift_variant	79585					cytoplasmic membrane-bounded vesicle|cytosol|Golgi membrane|integral to membrane of membrane fraction|soluble fraction		g.chr16:4414342delC	AK097238	CCDS10513.1, CCDS55982.1, CCDS58417.1	16p13.3	2013-01-10			ENSG00000262246	ENSG00000262246		"""Coronins"", ""WD repeat domain containing"""	26161	protein-coding gene	gene with protein product		611668				15327992	Standard	NM_024535		Approved	FLJ22021		P57737	OTTHUMG00000129465	ENST00000251166.4:c.1210delG	16.37:g.4414342delC	ENSP00000251166:p.Glu404fs					CORO7_uc002cwe.2_RNA|CORO7_uc002cwf.2_Frame_Shift_Del_p.E404fs|CORO7_uc002cwg.3_Frame_Shift_Del_p.E184fs|CORO7_uc010uxh.1_Frame_Shift_Del_p.E386fs|CORO7_uc010uxi.1_Frame_Shift_Del_p.E319fs|CORO7_uc002cwi.1_Frame_Shift_Del_p.E184fs|CORO7_uc010uxj.1_RNA|CORO7_uc010btp.1_Frame_Shift_Del_p.E184fs	p.E404fs	NM_024535	NP_078811	P57737	CORO7_HUMAN			14	1330	-			404					B4DFD6|B4DL18|I3L416|Q17RK4	Frame_Shift_Del	DEL	ENST00000251166.4	37	c.1210delG	CCDS10513.1																																																																																					0.682	CORO7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251628.2	NM_024535		14	19	14	19	---	---	---	---
SLC6A2	6530	broad.mit.edu	37	16	55728016	55728017	+	Frame_Shift_Ins	INS	-	-	C			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr16:55728016_55728017insC	ENST00000379906.2	+	6	1268_1269	c.1013_1014insC	c.(1012-1017)aactgtfs	p.C339fs	SLC6A2_ENST00000414754.3_Frame_Shift_Ins_p.C339fs|SLC6A2_ENST00000219833.8_Frame_Shift_Ins_p.C339fs|SLC6A2_ENST00000561820.1_Frame_Shift_Ins_p.C339fs|SLC6A2_ENST00000566163.1_Frame_Shift_Ins_p.C294fs|SLC6A2_ENST00000568943.1_Frame_Shift_Ins_p.C339fs|SLC6A2_ENST00000567238.1_Frame_Shift_Ins_p.C234fs	NM_001043.3	NP_001034.1	P23975	SC6A2_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 2	339					monoamine transport (GO:0015844)|norepinephrine transport (GO:0015874)|response to drug (GO:0042493)|response to pain (GO:0048265)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|membrane raft (GO:0045121)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	monoamine transmembrane transporter activity (GO:0008504)|norepinephrine:sodium symporter activity (GO:0005334)			breast(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(20)|ovary(3)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(1)	41				BRCA - Breast invasive adenocarcinoma(181;0.01)|Kidney(780;0.0267)	Amitriptyline(DB00321)|Amoxapine(DB00543)|Amphetamine(DB00182)|Atomoxetine(DB00289)|Bupropion(DB01156)|Chlorphenamine(DB01114)|Citalopram(DB00215)|Clomipramine(DB01242)|Cocaine(DB00907)|Debrisoquin(DB04840)|Desipramine(DB01151)|Desvenlafaxine(DB06700)|Dexmethylphenidate(DB06701)|Dextroamphetamine(DB01576)|Dextromethorphan(DB00514)|Diethylpropion(DB00937)|Dopamine(DB00988)|Doxepin(DB01142)|Droxidopa(DB06262)|Duloxetine(DB00476)|Ephedra(DB01363)|Ephedrine(DB01364)|Ergotamine(DB00696)|Escitalopram(DB01175)|Ginkgo biloba(DB01381)|Guanadrel(DB00226)|Guanethidine(DB01170)|Imipramine(DB00458)|Iobenguane(DB06704)|Ketamine(DB01221)|Levomilnacipran(DB08918)|Levonordefrin(DB06707)|Loxapine(DB00408)|Maprotiline(DB00934)|Mazindol(DB00579)|Methamphetamine(DB01577)|Methylphenidate(DB00422)|Mianserin(DB06148)|Milnacipran(DB04896)|Mirtazapine(DB00370)|Nefazodone(DB01149)|Norepinephrine(DB00368)|Nortriptyline(DB00540)|Orphenadrine(DB01173)|Paroxetine(DB00715)|Pethidine(DB00454)|Phendimetrazine(DB01579)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Protriptyline(DB00344)|Pseudoephedrine(DB00852)|Reboxetine(DB00234)|Sibutramine(DB01105)|Tapentadol(DB06204)|Tramadol(DB00193)|Trimipramine(DB00726)|Venlafaxine(DB00285)	TTTGACAACAACTGTTACAGGT	0.436																																						uc002eif.2																			0				lung(4)|ovary(2)|pancreas(2)	8						c.(1012-1014)AACfs		solute carrier family 6 member 2	Amineptine(DB04836)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Atomoxetine(DB00289)|Bethanidine(DB00217)|Bupropion(DB01156)|Clomipramine(DB01242)|Cocaine(DB00907)|Debrisoquin(DB04840)|Desipramine(DB01151)|Diethylpropion(DB00937)|Doxepin(DB01142)|Duloxetine(DB00476)|Ergotamine(DB00696)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Imipramine(DB00458)|Maprotiline(DB00934)|Mazindol(DB00579)|Methylphenidate(DB00422)|Milnacipran(DB04896)|Nefazodone(DB01149)|Norepinephrine(DB00368)|Nortriptyline(DB00540)|Paroxetine(DB00715)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Protriptyline(DB00344)|Reboxetine(DB00234)|Sibutramine(DB01105)|Tramadol(DB00193)|Trazodone(DB00656)|Trimipramine(DB00726)|Venlafaxine(DB00285)																																			SO:0001589	frameshift_variant	6530				synaptic transmission	integral to plasma membrane|membrane fraction	norepinephrine:sodium symporter activity	g.chr16:55728016_55728017insC		CCDS10754.1, CCDS54011.1, CCDS58463.1	16q12.2	2013-07-19	2013-07-19		ENSG00000103546	ENSG00000103546		"""Solute carriers"""	11048	protein-coding gene	gene with protein product	"""norepinephrine transporter"""	163970	"""solute carrier family 6 (neurotransmitter transporter, noradrenalin), member 2"""	NET1, NAT1, SLC6A5		2008212	Standard	NM_001043		Approved	NET	uc021tio.1	P23975	OTTHUMG00000133208	ENST00000379906.2:c.1014dupC	16.37:g.55728017_55728017dupC	ENSP00000369237:p.Cys339fs					SLC6A2_uc010ccd.2_Frame_Shift_Ins_p.N338fs|SLC6A2_uc002eig.2_Frame_Shift_Ins_p.N338fs|SLC6A2_uc002eih.2_Frame_Shift_Ins_p.N338fs|SLC6A2_uc002eii.2_Frame_Shift_Ins_p.N233fs|SLC6A2_uc002eij.2_Frame_Shift_Ins_p.N52fs	p.N338fs	NM_001043	NP_001034	P23975	SC6A2_HUMAN		BRCA - Breast invasive adenocarcinoma(181;0.01)|Kidney(780;0.0267)	7	1124_1125	+			338					B2R707|B4DX48|Q96KH8	Frame_Shift_Ins	INS	ENST00000379906.2	37	c.1013_1014insC	CCDS10754.1																																																																																					0.436	SLC6A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256922.2			58	44	58	44	---	---	---	---
DNAH2	146754	broad.mit.edu	37	17	7640532	7640532	+	Frame_Shift_Del	DEL	C	C	-	rs201401856	byFrequency	TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr17:7640532delC	ENST00000572933.1	+	8	2586	c.1126delC	c.(1126-1128)cccfs	p.P376fs	DNAH2_ENST00000389173.2_Frame_Shift_Del_p.P376fs|DNAH2_ENST00000570791.1_Frame_Shift_Del_p.P376fs|DNAH2_ENST00000082259.3_Frame_Shift_Del_p.P376fs			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	376	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)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				GGTCAACTCTCCCCACTACAA	0.537																																						uc002giu.1																			0				ovary(6)|skin(6)|central_nervous_system(1)	13						c.(1126-1128)CCCfs		dynein heavy chain domain 3							109.0	94.0	99.0					17																	7640532		2203	4300	6503	SO:0001589	frameshift_variant	146754				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr17:7640532delC	U83570, AK128517	CCDS32551.1	17p13.1	2007-10-05	2006-09-04			ENSG00000183914		"""Axonemal dyneins"""	2948	protein-coding gene	gene with protein product		603333	"""dynein, axonemal, heavy polypeptide 2"", ""dynein heavy chain domain 3"""	DNHD3		9256245	Standard	XM_005256470		Approved	KIAA1503, FLJ46675	uc002giu.1	Q9P225		ENST00000572933.1:c.1126delC	17.37:g.7640532delC	ENSP00000458355:p.Pro376fs					DNAH2_uc002git.2_Frame_Shift_Del_p.P376fs|DNAH2_uc010vuk.1_Frame_Shift_Del_p.P376fs	p.P376fs	NM_020877	NP_065928	Q9P225	DYH2_HUMAN			7	1140	+		all_cancers(10;4.66e-07)|Prostate(122;0.081)	376			Stem (By similarity).		A8K992|B5MDX5|O15434|Q6PIH3|Q6ZR42	Frame_Shift_Del	DEL	ENST00000572933.1	37	c.1126delC	CCDS32551.1																																																																																					0.537	DNAH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440241.1	NM_020877		48	57	48	57	---	---	---	---
RAX2	84839	broad.mit.edu	37	19	3771726	3771727	+	Frame_Shift_Ins	INS	-	-	T	rs144065007		TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr19:3771726_3771727insT	ENST00000555633.1	-	2	354_355	c.14_15insA	c.(13-15)ccgfs	p.P5fs	RAX2_ENST00000555978.1_Frame_Shift_Ins_p.P5fs			Q96IS3	RAX2_HUMAN	retina and anterior neural fold homeobox 2	5					regulation of transcription, DNA-templated (GO:0006355)|response to stimulus (GO:0050896)|transcription, DNA-templated (GO:0006351)|visual perception (GO:0007601)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			large_intestine(1)	1		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00463)|STAD - Stomach adenocarcinoma(1328;0.18)		GCCCCTCGCCCGGGCTCAGGAA	0.723																																						uc002lys.2																			0					0						c.(13-15)CCGfs		retina and anterior neural fold homeobox 2																																				SO:0001589	frameshift_variant	84839				response to stimulus|visual perception	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr19:3771726_3771727insT	AY211277	CCDS12112.1	19p13.3	2013-06-06	2007-08-28	2007-08-28				"""Homeoboxes / PRD class"""	18286	protein-coding gene	gene with protein product		610362	"""retina and anterior neural fold homeobox like 1"""	RAXL1			Standard	NM_032753		Approved	MGC15631, ARMD6, CORD11	uc002lys.3	Q96IS3		ENST00000555633.1:c.14_15insA	19.37:g.3771726_3771727insT	ENSP00000450456:p.Pro5fs					RAX2_uc010dtp.1_RNA|RAX2_uc002lyr.2_Frame_Shift_Ins_p.P51fs	p.P5fs	NM_032753	NP_116142	Q96IS3	RAX2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00463)|STAD - Stomach adenocarcinoma(1328;0.18)	2	82_83	-		Hepatocellular(1079;0.137)	5						Frame_Shift_Ins	INS	ENST00000555633.1	37	c.14_15insA	CCDS12112.1																																																																																					0.723	RAX2-001	PUTATIVE	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411919.2	NM_032753		11	6	11	6	---	---	---	---
MUC16	94025	broad.mit.edu	37	19	9088753	9088753	+	Frame_Shift_Del	DEL	A	A	-			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr19:9088753delA	ENST00000397910.4	-	1	3265	c.3062delT	c.(3061-3063)atcfs	p.I1021fs		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	1021	Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TGTTGTGAGGATGGTTGTTGA	0.468																																						uc002mkp.2																			0				lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						c.(3061-3063)ATCfs		mucin 16							205.0	194.0	197.0					19																	9088753		1989	4168	6157	SO:0001589	frameshift_variant	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9088753delA	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.3062delT	19.37:g.9088753delA	ENSP00000381008:p.Ile1021fs						p.I1021fs	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN			1	3266	-			1021			Thr-rich.|Extracellular (Potential).		Q6ZQW5|Q96RK2	Frame_Shift_Del	DEL	ENST00000397910.4	37	c.3062delT	CCDS54212.1																																																																																					0.468	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		121	93	121	93	---	---	---	---
RANGAP1	5905	broad.mit.edu	37	22	41664101	41664102	+	Splice_Site	INS	-	-	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chr22:41664101_41664102insA	ENST00000455915.2	-	3	1768_1769	c.299_300insT	c.(298-300)ctg>ctTg	p.L100fs	RANGAP1_ENST00000356244.3_Splice_Site_p.L100fs|RANGAP1_ENST00000407260.4_Splice_Site_p.L90fs|RANGAP1_ENST00000405486.1_Splice_Site_p.L100fs			P46060	RAGP1_HUMAN	Ran GTPase activating protein 1	100					mitotic cell cycle (GO:0000278)|negative regulation of protein export from nucleus (GO:0046826)|positive regulation of Ran GTPase activity (GO:0032853)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|kinetochore (GO:0000776)|nuclear pore (GO:0005643)|perinuclear region of cytoplasm (GO:0048471)	Ran GTPase activator activity (GO:0005098)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						GTTCGCTTACCAGGGCTGGTGG	0.564																																						uc003azs.2																			0					0						c.(298-300)CTGfs		Ran GTPase activating protein 1																																				SO:0001630	splice_region_variant	5905				mitotic prometaphase|signal transduction	condensed chromosome kinetochore|cytosol|nuclear membrane|nuclear pore|soluble fraction|spindle pole	protein binding|Ran GTPase activator activity	g.chr22:41664101_41664102insA	X82260	CCDS14012.1	22q13	2013-01-17			ENSG00000100401	ENSG00000100401			9854	protein-coding gene	gene with protein product		602362	"""segregation distorter homolog (Drosophila)"""	SD		7878053	Standard	NM_002883		Approved	Fug1, KIAA1835	uc003azu.3	P46060	OTTHUMG00000150940	ENST00000455915.2:c.300+1->T	22.37:g.41664102_41664102dupA						RANGAP1_uc003azt.2_Frame_Shift_Ins_p.L100fs|RANGAP1_uc003azu.2_Frame_Shift_Ins_p.L100fs|RANGAP1_uc011aoz.1_Frame_Shift_Ins_p.L90fs	p.L100fs	NM_002883	NP_002874	P46060	RAGP1_HUMAN			3	1769_1770	-			100					Q96JJ2	Frame_Shift_Ins	INS	ENST00000455915.2	37	c.299_300insT	CCDS14012.1																																																																																					0.564	RANGAP1-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320606.1	NM_002883	Frame_Shift_Ins	4	2	4	2	---	---	---	---
GLUD2	2747	broad.mit.edu	37	X	120182757	120182757	+	Frame_Shift_Del	DEL	G	G	-			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chrX:120182757delG	ENST00000328078.1	+	1	1296	c.1219delG	c.(1219-1221)gggfs	p.G407fs		NM_012084.3	NP_036216.2	P49448	DHE4_HUMAN	glutamate dehydrogenase 2	407					glutamate biosynthetic process (GO:0006537)|glutamate catabolic process (GO:0006538)|glutamate metabolic process (GO:0006536)|oxidation-reduction process (GO:0055114)	mitochondrion (GO:0005739)	ADP binding (GO:0043531)|glutamate dehydrogenase (NAD+) activity (GO:0004352)|glutamate dehydrogenase [NAD(P)+] activity (GO:0004353)|GTP binding (GO:0005525)|leucine binding (GO:0070728)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|pancreas(1)|urinary_tract(1)	38						AGGTGCCAATGGGCCAACAAC	0.468																																						uc004eto.2																			0				pancreas(1)	1						c.(1219-1221)GGGfs		glutamate dehydrogenase 2 precursor	L-Glutamic Acid(DB00142)|NADH(DB00157)						196.0	180.0	185.0					X																	120182757		2203	4300	6503	SO:0001589	frameshift_variant	2747				glutamate biosynthetic process|glutamate catabolic process	mitochondrial matrix	ADP binding|glutamate dehydrogenase|glutamate dehydrogenase activity|GTP binding|leucine binding	g.chrX:120182757delG	U08997	CCDS14603.1	Xq24-q25	2008-02-05	2003-02-24	2003-02-28	ENSG00000182890	ENSG00000182890			4336	protein-coding gene	gene with protein product		300144	"""glutamate dehydrogenase pseudogene 1"""	GLUDP1		8207021, 9109504	Standard	NM_012084		Approved		uc004eto.3	P49448	OTTHUMG00000022320	ENST00000328078.1:c.1219delG	X.37:g.120182757delG	ENSP00000327589:p.Gly407fs						p.G407fs	NM_012084	NP_036216	P49448	DHE4_HUMAN			1	1296	+			407					B2R8G0|Q9UDQ4	Frame_Shift_Del	DEL	ENST00000328078.1	37	c.1219delG	CCDS14603.1																																																																																					0.468	GLUD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058133.1	NM_012084		78	153	78	153	---	---	---	---
SLITRK2	84631	broad.mit.edu	37	X	144906278	144906278	+	Frame_Shift_Del	DEL	T	T	-			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ddd84ea3-dd5e-4f95-97c3-84c107c19cad	cf452c46-4f4d-40dd-b42f-e8e724a6109b	g.chrX:144906278delT	ENST00000370490.1	+	1	6590	c.2335delT	c.(2335-2337)ttafs	p.L779fs	SLITRK2_ENST00000434188.2_Frame_Shift_Del_p.L779fs|SLITRK2_ENST00000447897.2_Frame_Shift_Del_p.L779fs|SLITRK2_ENST00000428560.2_Frame_Shift_Del_p.L779fs|TMEM257_ENST00000408967.2_5'Flank|SLITRK2_ENST00000413937.2_Frame_Shift_Del_p.L779fs			Q9H156	SLIK2_HUMAN	SLIT and NTRK-like family, member 2	779					axonogenesis (GO:0007409)	integral component of membrane (GO:0016021)				NS(1)|breast(3)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(17)|lung(40)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	86	Acute lymphoblastic leukemia(192;6.56e-05)					CTTTTGTACCTTACCTAAAAG	0.458																																						uc004fcd.2																			0				ovary(5)|central_nervous_system(1)|pancreas(1)	7						c.(2335-2337)TTAfs		SLIT and NTRK-like family, member 2 precursor							142.0	130.0	134.0					X																	144906278		2203	4300	6503	SO:0001589	frameshift_variant	84631					integral to membrane		g.chrX:144906278delT	Y19205	CCDS14680.1	Xq27.3	2008-02-05	2004-03-11		ENSG00000185985	ENSG00000185985			13449	protein-coding gene	gene with protein product		300561	"""slit-like 1 (Drosophila)"""	SLITL1		11347906, 14557068	Standard	NM_032539		Approved	KIAA1854, CXorf2	uc011mwr.2	Q9H156	OTTHUMG00000022595	ENST00000370490.1:c.2335delT	X.37:g.144906278delT	ENSP00000359521:p.Leu779fs					SLITRK2_uc010nsp.2_Frame_Shift_Del_p.L779fs|SLITRK2_uc010nso.2_Frame_Shift_Del_p.L779fs|SLITRK2_uc011mwq.1_Frame_Shift_Del_p.L779fs|SLITRK2_uc011mwr.1_Frame_Shift_Del_p.L779fs|SLITRK2_uc011mws.1_Frame_Shift_Del_p.L779fs|SLITRK2_uc004fcg.2_Frame_Shift_Del_p.L779fs|SLITRK2_uc011mwt.1_Frame_Shift_Del_p.L779fs|CXorf1_uc004fch.2_5'Flank	p.L779fs	NM_032539	NP_115928	Q9H156	SLIK2_HUMAN			5	3325	+	Acute lymphoblastic leukemia(192;6.56e-05)		779			Cytoplasmic (Potential).		A8K117|Q2KHN3|Q5JXB1|Q8NBC7|Q96JH3	Frame_Shift_Del	DEL	ENST00000370490.1	37	c.2335delT	CCDS14680.1																																																																																					0.458	SLITRK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058633.1	NM_032539		76	113	76	113	---	---	---	---
