#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
MMP23B	8510	broad.mit.edu	37	1	1571841	1571841	+	IGR	SNP	A	A	C	rs150949339	byFrequency	TCGA-66-2766-01A-01D-1522-08	TCGA-66-2766-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	452b75d0-1818-46aa-8804-9cfc0bd66449	81a4d615-e95e-4c17-87f7-c06d8dd4975a	g.chr1:1571841A>C	ENST00000356026.5	+	0	1326				CDK11B_ENST00000317673.7_Missense_Mutation_p.D641E|CDK11B_ENST00000341832.6_Missense_Mutation_p.D596E|CDK11B_ENST00000340677.5_Missense_Mutation_p.D630E|CDK11B_ENST00000407249.3_Missense_Mutation_p.D643E			O75900	MMP23_HUMAN	matrix metallopeptidase 23B						proteolysis (GO:0006508)|reproduction (GO:0000003)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.D643E(3)		large_intestine(1)	1	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;5.61e-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;5.26e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.54e-23)|GBM - Glioblastoma multiforme(42;9e-08)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|STAD - Stomach adenocarcinoma(132;0.00644)|BRCA - Breast invasive adenocarcinoma(365;0.00786)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)	Marimastat(DB00786)	GGGTCCCCAGATCCTGAAAGA	0.577																																						uc001agv.1																			3	Substitution - Missense(3)		haematopoietic_and_lymphoid_tissue(1)|lung(1)|central_nervous_system(1)	skin(1)	1						c.(1918-1920)GAT>GAG		cell division cycle 2-like 1 (PITSLRE proteins)		A	GLU/ASP,GLU/ASP,GLU/ASP,GLU/ASP,GLU/ASP,GLU/ASP	663,3183		0,663,1260	41.0	40.0	40.0		1665,1152,1554,1563,1683,1656	2.6	1.0	1	dbSNP_134	40	156,8096		0,156,3970	no	missense,missense,missense,missense,missense,missense	CDK11B	NM_033486.1,NM_033487.1,NM_033488.1,NM_033489.1,NM_033492.1,NM_033493.1	45,45,45,45,45,45	0,819,5230	CC,CA,AA		1.8905,17.2387,6.7697	probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging	555/698,384/527,518/661,521/664,561/704,552/695	1571841	819,11279	1923	4126	6049	SO:0001628	intergenic_variant	984				apoptosis|cell proliferation|mitosis|regulation of cell growth|regulation of mRNA processing|regulation of transcription, DNA-dependent	cytoplasm|nucleus	ATP binding|cyclin-dependent protein kinase activity|protein binding	g.chr1:1571841A>C		CCDS30559.1	1p36.3	2013-01-11	2005-08-08		ENSG00000189409	ENSG00000189409		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	7171	protein-coding gene	gene with protein product	"""matrix metalloproteinase 22"", ""femalysin"", ""matrix metalloproteinase in the female reproductive tract"""	603321	"""matrix metalloproteinase 23B"""	MMP22		9740677, 9750192	Standard	XM_005244810		Approved	MIFR, MIFR-1	uc001agp.3	O75900	OTTHUMG00000074713		1.37:g.1571841A>C						CDK11B_uc009vkj.2_Missense_Mutation_p.D297E|CDK11B_uc001ags.1_Missense_Mutation_p.D498E|CDK11B_uc001agt.1_Missense_Mutation_p.D423E|CDK11B_uc001aha.1_Missense_Mutation_p.D606E|CDK11B_uc001agw.1_Missense_Mutation_p.D595E|CDK11B_uc001agy.1_Missense_Mutation_p.D638E|CDK11B_uc001agx.1_Missense_Mutation_p.D629E|CDK11B_uc001agz.1_Missense_Mutation_p.D384E	p.D640E	NM_033486	NP_277021	P21127	CD11B_HUMAN			22	2031	-			653			Protein kinase.		A2AGN0|A2AGN1|O75894|O75895|Q5QPQ8|Q76P96|Q7LDM6|Q7LDM7|Q9UBR9|Q9UJK8	Missense_Mutation	SNP	ENST00000356026.5	37	c.1920T>G	CCDS30559.1																																																																																				PASS	0.577	MMP23B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000158492.2	NM_006983		4	11	4	11	---	---	---	---
GABRD	2563	broad.mit.edu	37	1	1957004	1957004	+	Silent	SNP	G	G	A			TCGA-66-2766-01A-01D-1522-08	TCGA-66-2766-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	452b75d0-1818-46aa-8804-9cfc0bd66449	81a4d615-e95e-4c17-87f7-c06d8dd4975a	g.chr1:1957004G>A	ENST00000378585.4	+	4	380	c.297G>A	c.(295-297)agG>agA	p.R99R		NM_000815.4	NP_000806.2	O14764	GBRD_HUMAN	gamma-aminobutyric acid (GABA) A receptor, delta	99					signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|postsynaptic membrane (GO:0045211)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)	p.R99R(1)		central_nervous_system(2)|endometrium(3)|kidney(2)|lung(8)|ovary(2)|prostate(1)|skin(2)	20	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;2.7e-19)|all_lung(118;1.22e-08)|Lung NSC(185;1.24e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128)		Epithelial(90;2.19e-38)|OV - Ovarian serous cystadenocarcinoma(86;3.17e-24)|GBM - Glioblastoma multiforme(42;9.56e-08)|Colorectal(212;4.12e-05)|COAD - Colon adenocarcinoma(227;0.000194)|Kidney(185;0.00231)|BRCA - Breast invasive adenocarcinoma(365;0.00441)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0344)|Lung(427;0.2)	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)|Ketazolam(DB01587)|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)	GGGACAGCAGGCTCTCCTACA	0.647																																						uc001aip.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|central_nervous_system(1)|skin(1)	3						c.(295-297)AGG>AGA		gamma-aminobutyric acid (GABA) A receptor, delta							105.0	102.0	103.0					1																	1957004		2203	4300	6503	SO:0001819	synonymous_variant	2563					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.chr1:1957004G>A	BC033801	CCDS36.1	1p36.3	2012-06-22			ENSG00000187730	ENSG00000187730		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4084	protein-coding gene	gene with protein product	"""GABA(A) receptor, delta"""	137163				2176788, 10965146	Standard	NM_000815		Approved		uc001aip.2	O14764	OTTHUMG00000041064	ENST00000378585.4:c.297G>A	1.37:g.1957004G>A							p.R99R	NM_000815	NP_000806	O14764	GBRD_HUMAN		Epithelial(90;2.19e-38)|OV - Ovarian serous cystadenocarcinoma(86;3.17e-24)|GBM - Glioblastoma multiforme(42;9.56e-08)|Colorectal(212;4.12e-05)|COAD - Colon adenocarcinoma(227;0.000194)|Kidney(185;0.00231)|BRCA - Breast invasive adenocarcinoma(365;0.00441)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0344)|Lung(427;0.2)	4	392	+	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;2.7e-19)|all_lung(118;1.22e-08)|Lung NSC(185;1.24e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128)	99			Extracellular (Probable).		Q8N4N9	Silent	SNP	ENST00000378585.4	37	c.297G>A	CCDS36.1																																																																																				PASS	0.647	GABRD-001	KNOWN	mRNA_start_NF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098493.1	NM_000815		58	19	58	19	---	---	---	---
SPEN	23013	broad.mit.edu	37	1	16264403	16264403	+	Missense_Mutation	SNP	C	C	G	rs61756184		TCGA-66-2766-01A-01D-1522-08	TCGA-66-2766-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	452b75d0-1818-46aa-8804-9cfc0bd66449	81a4d615-e95e-4c17-87f7-c06d8dd4975a	g.chr1:16264403C>G	ENST00000375759.3	+	13	10810	c.10606C>G	c.(10606-10608)Cgg>Ggg	p.R3536G		NM_015001.2	NP_055816.2	Q96T58	MINT_HUMAN	spen family transcriptional repressor	3536	SPOC. {ECO:0000255|PROSITE- ProRule:PRU00249}.				negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling pathway (GO:0007219)|positive regulation of neurogenesis (GO:0050769)|positive regulation of transcription, DNA-templated (GO:0045893)|viral process (GO:0016032)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding transcription factor activity (GO:0003700)|single-stranded DNA binding (GO:0003697)|transcription corepressor activity (GO:0003714)	p.R3536G(1)		NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	149		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)		CCTGGCCCATCGGTCCCTGCC	0.627																																						uc001axk.1																			1	Substitution - Missense(1)		lung(1)	ovary(6)|breast(3)|lung(2)|skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)	15						c.(10606-10608)CGG>GGG		spen homolog, transcriptional regulator							91.0	88.0	89.0					1																	16264403		2203	4300	6503	SO:0001583	missense	23013				interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|Notch signaling pathway	nucleus	nucleotide binding|protein binding|RNA binding	g.chr1:16264403C>G		CCDS164.1	1p36	2013-10-17	2013-10-17		ENSG00000065526	ENSG00000065526		"""RNA binding motif (RRM) containing"""	17575	protein-coding gene	gene with protein product		613484	"""SPEN homolog, transcriptional regulator (Drosophila)"", ""spen homolog, transcriptional regulator (Drosophila)"""			10451362, 11331609	Standard	NM_015001		Approved	KIAA0929, MINT, SHARP, RBM15C	uc001axk.1	Q96T58	OTTHUMG00000009376	ENST00000375759.3:c.10606C>G	1.37:g.16264403C>G	ENSP00000364912:p.Arg3536Gly					SPEN_uc010obp.1_Missense_Mutation_p.R3495G	p.R3536G	NM_015001	NP_055816	Q96T58	MINT_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)	13	10810	+		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)	3536			SPOC.		Q9H9A8|Q9NWH5|Q9UQ01|Q9Y556	Missense_Mutation	SNP	ENST00000375759.3	37	c.10606C>G	CCDS164.1	.	.	.	.	.	.	.	.	.	.	C	16.63	3.177336	0.57692	.	.	ENSG00000065526	ENST00000375759	T	0.09255	3.0	5.3	4.38	0.52667	Spen Paralogue and Orthologue SPOC, C-terminal-like (2);Spen paralogue/orthologue C-terminal, metazoa (1);Spen paralogue and orthologue SPOC, C-terminal (1);	.	.	.	.	T	0.12732	0.0309	N	0.17800	0.525	0.58432	D	0.999997	P	0.40398	0.716	P	0.49276	0.605	T	0.22452	-1.0216	9	0.19590	T	0.45	-15.3801	16.2913	0.82755	0.0:0.8672:0.1328:0.0	.	3536	Q96T58	MINT_HUMAN	G	3536	ENSP00000364912:R3536G	ENSP00000364912:R3536G	R	+	1	2	SPEN	16136990	1.000000	0.71417	0.999000	0.59377	0.989000	0.77384	7.391000	0.79828	1.347000	0.45714	0.655000	0.94253	CGG		PASS	0.627	SPEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025993.1	NM_015001		57	76	57	76	---	---	---	---
DCDC2B	149069	broad.mit.edu	37	1	32677697	32677697	+	Missense_Mutation	SNP	G	G	A			TCGA-66-2766-01A-01D-1522-08	TCGA-66-2766-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	452b75d0-1818-46aa-8804-9cfc0bd66449	81a4d615-e95e-4c17-87f7-c06d8dd4975a	g.chr1:32677697G>A	ENST00000409358.1	+	4	422	c.422G>A	c.(421-423)aGt>aAt	p.S141N		NM_001099434.1	NP_001092904.1	A2VCK2	DCD2B_HUMAN	doublecortin domain containing 2B	141	Doublecortin 2. {ECO:0000255|PROSITE- ProRule:PRU00072}.				intracellular signal transduction (GO:0035556)			p.S141N(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(1)	11		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.174)				GACCTGGTAAGTCCCCCATTT	0.572																																						uc001bun.2																			1	Substitution - Missense(1)		lung(1)		0						c.(421-423)AGT>AAT		doublecortin domain containing 2B							46.0	49.0	48.0					1																	32677697		1915	4122	6037	SO:0001583	missense	149069				intracellular signal transduction			g.chr1:32677697G>A	BC128073	CCDS44100.1	1p35.1	2008-05-13			ENSG00000222046	ENSG00000222046			32576	protein-coding gene	gene with protein product							Standard	NM_001099434		Approved		uc001bun.2	A2VCK2	OTTHUMG00000005741	ENST00000409358.1:c.422G>A	1.37:g.32677697G>A	ENSP00000386870:p.Ser141Asn						p.S141N	NM_001099434	NP_001092904	A2VCK2	DCD2B_HUMAN			4	422	+		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.174)	141			Doublecortin 2.		B7ZBC6	Missense_Mutation	SNP	ENST00000409358.1	37	c.422G>A	CCDS44100.1	.	.	.	.	.	.	.	.	.	.	G	16.68	3.189312	0.57909	.	.	ENSG00000222046	ENST00000409358	D	0.86497	-2.13	4.36	4.36	0.52297	Doublecortin domain (4);	.	.	.	.	T	0.80727	0.4678	L	0.45137	1.4	0.41993	D	0.990852	B	0.33212	0.402	B	0.26864	0.074	T	0.78211	-0.2292	9	0.20046	T	0.44	.	15.1998	0.73126	0.0:0.0:1.0:0.0	.	141	A2VCK2	DCD2B_HUMAN	N	141	ENSP00000386870:S141N	ENSP00000386870:S141N	S	+	2	0	DCDC2B	32450284	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.716000	0.84723	2.436000	0.82500	0.655000	0.94253	AGT		PASS	0.572	DCDC2B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328293.1	XM_940631		46	9	46	9	---	---	---	---
GJA9	81025	broad.mit.edu	37	1	39340741	39340741	+	Missense_Mutation	SNP	G	G	C			TCGA-66-2766-01A-01D-1522-08	TCGA-66-2766-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	452b75d0-1818-46aa-8804-9cfc0bd66449	81a4d615-e95e-4c17-87f7-c06d8dd4975a	g.chr1:39340741G>C	ENST00000360786.3	-	1	1282	c.1030C>G	c.(1030-1032)Caa>Gaa	p.Q344E	MYCBP_ENST00000489803.1_5'UTR|MYCBP_ENST00000397572.2_5'Flank|RP5-864K19.4_ENST00000456813.1_RNA|RP5-864K19.4_ENST00000443161.1_RNA|GJA9_ENST00000454994.2_Missense_Mutation_p.Q344E|GJA9_ENST00000357771.3_Missense_Mutation_p.Q344E|RP5-864K19.4_ENST00000433671.2_RNA			P57773	CXA9_HUMAN	gap junction protein, alpha 9, 59kDa	344					cell communication (GO:0007154)	connexon complex (GO:0005922)|integral component of membrane (GO:0016021)		p.Q344E(1)		breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	OV - Ovarian serous cystadenocarcinoma(33;8.23e-17)			CTGATGTGTTGAAAATGACTA	0.313																																						uc001cct.1																			1	Substitution - Missense(1)		lung(1)		0						c.(1030-1032)CAA>GAA		gap junction protein, alpha 9, 59kDa							85.0	88.0	87.0					1																	39340741		2203	4300	6503	SO:0001583	missense	81025				cell communication	connexon complex|integral to membrane		g.chr1:39340741G>C	AF179597	CCDS432.1	1p34	2008-02-05	2007-11-06	2007-11-06	ENSG00000131233	ENSG00000131233		"""Ion channels / Gap junction proteins (connexins)"""	19155	protein-coding gene	gene with protein product	"""connexin 59"""	611923	"""gap junction protein, alpha 10, 59kDa"""	GJA10			Standard	NM_030772		Approved	CX59, CX58	uc021olr.1	P57773	OTTHUMG00000000482	ENST00000360786.3:c.1030C>G	1.37:g.39340741G>C	ENSP00000354020:p.Gln344Glu					RRAGC_uc001ccr.2_5'Flank|MYCBP_uc001ccs.2_5'Flank	p.Q344E	NM_030772	NP_110399	P57773	CXA9_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;8.23e-17)		2	1311	-	Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	344			Cytoplasmic (Potential).		B2R722|B3KVQ2|Q5TA63|Q96KG0	Missense_Mutation	SNP	ENST00000360786.3	37	c.1030C>G	CCDS432.1	.	.	.	.	.	.	.	.	.	.	G	5.773	0.327008	0.10900	.	.	ENSG00000131233	ENST00000454994;ENST00000357771;ENST00000360786	D;D;D	0.97710	-4.5;-4.41;-4.41	5.03	2.95	0.34219	.	605.141000	0.00691	N	0.000726	D	0.94853	0.8337	N	0.19112	0.55	0.24854	N	0.992389	P	0.36282	0.546	B	0.32980	0.156	D	0.88199	0.2882	10	0.31617	T	0.26	.	14.1998	0.65696	0.0:0.2846:0.7154:0.0	.	344	P57773	CXA9_HUMAN	E	344	ENSP00000406846:Q344E;ENSP00000350415:Q344E;ENSP00000354020:Q344E	ENSP00000350415:Q344E	Q	-	1	0	GJA9	39113328	0.999000	0.42202	0.447000	0.26932	0.124000	0.20399	2.416000	0.44644	1.401000	0.46761	0.655000	0.94253	CAA		PASS	0.313	GJA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000001205.1	NM_030772		36	104	36	104	---	---	---	---
GJA9	81025	broad.mit.edu	37	1	39341106	39341106	+	Missense_Mutation	SNP	G	G	A			TCGA-66-2766-01A-01D-1522-08	TCGA-66-2766-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	452b75d0-1818-46aa-8804-9cfc0bd66449	81a4d615-e95e-4c17-87f7-c06d8dd4975a	g.chr1:39341106G>A	ENST00000360786.3	-	1	917	c.665C>T	c.(664-666)tCa>tTa	p.S222L	MYCBP_ENST00000489803.1_5'UTR|MYCBP_ENST00000397572.2_5'Flank|RP5-864K19.4_ENST00000456813.1_RNA|RP5-864K19.4_ENST00000443161.1_RNA|GJA9_ENST00000454994.2_Missense_Mutation_p.S222L|GJA9_ENST00000357771.3_Missense_Mutation_p.S222L|RP5-864K19.4_ENST00000433671.2_RNA			P57773	CXA9_HUMAN	gap junction protein, alpha 9, 59kDa	222					cell communication (GO:0007154)	connexon complex (GO:0005922)|integral component of membrane (GO:0016021)		p.S222L(1)		breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	OV - Ovarian serous cystadenocarcinoma(33;8.23e-17)			TAAGAAAAGTGAAATAGTGGC	0.338																																						uc001cct.1																			1	Substitution - Missense(1)		lung(1)		0						c.(664-666)TCA>TTA		gap junction protein, alpha 9, 59kDa							62.0	63.0	63.0					1																	39341106		2199	4299	6498	SO:0001583	missense	81025				cell communication	connexon complex|integral to membrane		g.chr1:39341106G>A	AF179597	CCDS432.1	1p34	2008-02-05	2007-11-06	2007-11-06	ENSG00000131233	ENSG00000131233		"""Ion channels / Gap junction proteins (connexins)"""	19155	protein-coding gene	gene with protein product	"""connexin 59"""	611923	"""gap junction protein, alpha 10, 59kDa"""	GJA10			Standard	NM_030772		Approved	CX59, CX58	uc021olr.1	P57773	OTTHUMG00000000482	ENST00000360786.3:c.665C>T	1.37:g.39341106G>A	ENSP00000354020:p.Ser222Leu					RRAGC_uc001ccr.2_5'Flank|MYCBP_uc001ccs.2_5'Flank	p.S222L	NM_030772	NP_110399	P57773	CXA9_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;8.23e-17)		2	946	-	Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	222			Helical; (Potential).		B2R722|B3KVQ2|Q5TA63|Q96KG0	Missense_Mutation	SNP	ENST00000360786.3	37	c.665C>T	CCDS432.1	.	.	.	.	.	.	.	.	.	.	G	21.6	4.169643	0.78452	.	.	ENSG00000131233	ENST00000454994;ENST00000357771;ENST00000360786	D;D;D	0.96745	-4.11;-4.11;-4.11	4.83	3.9	0.45041	Gap junction protein, cysteine-rich domain (1);	0.000000	0.64402	U	0.000001	D	0.98479	0.9493	H	0.94847	3.59	0.54753	D	0.999987	D	0.89917	1.0	D	0.97110	1.0	D	0.99198	1.0872	10	0.72032	D	0.01	.	13.0195	0.58777	0.082:0.0:0.918:0.0	.	222	P57773	CXA9_HUMAN	L	222	ENSP00000406846:S222L;ENSP00000350415:S222L;ENSP00000354020:S222L	ENSP00000350415:S222L	S	-	2	0	GJA9	39113693	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	5.523000	0.67099	1.314000	0.45095	0.655000	0.94253	TCA		PASS	0.338	GJA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000001205.1	NM_030772		29	90	29	90	---	---	---	---
LEPRE1	64175	broad.mit.edu	37	1	43224593	43224593	+	Silent	SNP	T	T	A			TCGA-66-2766-01A-01D-1522-08	TCGA-66-2766-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	452b75d0-1818-46aa-8804-9cfc0bd66449	81a4d615-e95e-4c17-87f7-c06d8dd4975a	g.chr1:43224593T>A	ENST00000296388.5	-	4	921	c.870A>T	c.(868-870)ccA>ccT	p.P290P	LEPRE1_ENST00000236040.4_Silent_p.P290P|LEPRE1_ENST00000397054.3_Silent_p.P290P			Q32P28	P3H1_HUMAN	leucine proline-enriched proteoglycan (leprecan) 1	290					bone development (GO:0060348)|cell growth (GO:0016049)|chaperone-mediated protein folding (GO:0061077)|collagen fibril organization (GO:0030199)|collagen metabolic process (GO:0032963)|extracellular matrix organization (GO:0030198)|negative regulation of cell proliferation (GO:0008285)|negative regulation of post-translational protein modification (GO:1901874)|peptidyl-proline hydroxylation (GO:0019511)|protein folding (GO:0006457)|protein hydroxylation (GO:0018126)|protein stabilization (GO:0050821)|regulation of ossification (GO:0030278)|regulation of protein secretion (GO:0050708)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|extracellular vesicular exosome (GO:0070062)|macromolecular complex (GO:0032991)|membrane (GO:0016020)|nucleus (GO:0005634)|proteinaceous extracellular matrix (GO:0005578)	iron ion binding (GO:0005506)|L-ascorbic acid binding (GO:0031418)|procollagen-proline 3-dioxygenase activity (GO:0019797)|protein complex binding (GO:0032403)	p.P290P(2)		large_intestine(2)|lung(15)|ovary(5)|prostate(1)|urinary_tract(3)	26	Ovarian(52;0.00744)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)			L-Proline(DB00172)|Succinic acid(DB00139)|Vitamin C(DB00126)	TCTCTCGACTTGGGTGGGAAG	0.443																																						uc001chv.2																			2	Substitution - coding silent(2)		lung(2)	ovary(3)|lung(1)	4						c.(868-870)CCA>CCT		leprecan 1 isoform 1	L-Proline(DB00172)|Succinic acid(DB00139)|Vitamin C(DB00126)						109.0	98.0	101.0					1																	43224593		2203	4300	6503	SO:0001819	synonymous_variant	64175				negative regulation of cell proliferation	endoplasmic reticulum|proteinaceous extracellular matrix	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-proline 3-dioxygenase activity	g.chr1:43224593T>A	AK027648	CCDS472.2, CCDS53307.1, CCDS57986.1	1p34.1	2014-09-17			ENSG00000117385	ENSG00000117385			19316	protein-coding gene	gene with protein product	"""prolyl 3-hydroxylase 1"", ""growth suppressor 1"""	610339				10951563	Standard	NM_022356		Approved	GROS1, P3H1, LEPRECAN, MGC117314	uc001chx.4	Q32P28	OTTHUMG00000007525	ENST00000296388.5:c.870A>T	1.37:g.43224593T>A						LEPRE1_uc001chw.2_Silent_p.P290P|LEPRE1_uc001chx.3_Silent_p.P290P	p.P290P	NM_022356	NP_071751	Q32P28	P3H1_HUMAN			4	983	-	Ovarian(52;0.00744)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)	290					Q7KZR4|Q96BR8|Q96SK8|Q96SL5|Q96SN3|Q9H6K3|Q9HC86|Q9HC87	Silent	SNP	ENST00000296388.5	37	c.870A>T	CCDS472.2																																																																																				PASS	0.443	LEPRE1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000019790.2	NM_022356		80	61	80	61	---	---	---	---
MUTYH	4595	broad.mit.edu	37	1	45797904	45797904	+	Silent	SNP	C	C	A			TCGA-66-2766-01A-01D-1522-08	TCGA-66-2766-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	452b75d0-1818-46aa-8804-9cfc0bd66449	81a4d615-e95e-4c17-87f7-c06d8dd4975a	g.chr1:45797904C>A	ENST00000372098.3	-	10	991	c.858G>T	c.(856-858)gtG>gtT	p.V286V	MUTYH_ENST00000531105.1_Intron|MUTYH_ENST00000528332.2_Intron|MUTYH_ENST00000372110.3_Silent_p.V276V|MUTYH_ENST00000528013.2_Silent_p.V275V|MUTYH_ENST00000355498.2_Silent_p.V261V|MUTYH_ENST00000456914.2_Silent_p.V261V|MUTYH_ENST00000450313.1_Silent_p.V289V|MUTYH_ENST00000529984.1_Intron|MUTYH_ENST00000372104.1_Silent_p.V261V|MUTYH_ENST00000448481.1_Silent_p.V272V|MUTYH_ENST00000372100.5_Silent_p.V272V|MUTYH_ENST00000372115.3_Silent_p.V275V|MUTYH_ENST00000354383.6_Silent_p.V262V|MUTYH_ENST00000488731.2_Intron			Q9UIF7	MUTYH_HUMAN	mutY homolog	286					base-excision repair (GO:0006284)|base-excision repair, AP site formation (GO:0006285)|depurination (GO:0045007)|DNA repair (GO:0006281)|mismatch repair (GO:0006298)	mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	4 iron, 4 sulfur cluster binding (GO:0051539)|hydrolase activity, acting on glycosyl bonds (GO:0016798)|metal ion binding (GO:0046872)|MutSalpha complex binding (GO:0032407)	p.V286V(1)		NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|urinary_tract(1)	19	Acute lymphoblastic leukemia(166;0.155)					GTGGGGTACACACTGTGGCCC	0.627			Mis			colorectal		Base excision repair (BER), DNA glycosylases	MUTYH-associated polyposis																													uc001cnm.2			yes	Rec		Adenomatous polyposis coli	1	1p34.3-1p32.1	4595	Mis	mutY homolog (E. coli)			E		colorectal			1	Substitution - coding silent(1)		lung(1)		0						c.(856-858)GTG>GTT	BER_DNA_glycosylases	mutY homolog isoform 1							42.0	43.0	43.0					1																	45797904		2203	4300	6503	SO:0001819	synonymous_variant	4595	MUTYH-associated_polyposis	Familial Cancer Database	MAP, MYH-associated polyposis	depurination|mismatch repair	nucleoplasm	4 iron, 4 sulfur cluster binding|DNA N-glycosylase activity|endonuclease activity|metal ion binding|MutSalpha complex binding	g.chr1:45797904C>A	U63329	CCDS520.1, CCDS41320.1, CCDS41321.1, CCDS41322.1, CCDS72776.1, CCDS72777.1	1p34.1	2014-09-17	2013-09-12		ENSG00000132781	ENSG00000132781			7527	protein-coding gene	gene with protein product		604933	"""mutY (E. coli) homolog"", ""mutY homolog (E. coli)"""			7823963, 10684930	Standard	NM_012222		Approved	MYH	uc009vxp.3	Q9UIF7	OTTHUMG00000007682	ENST00000372098.3:c.858G>T	1.37:g.45797904C>A						MUTYH_uc009vxn.2_Silent_p.V111V|MUTYH_uc001cnf.2_Silent_p.V261V|MUTYH_uc009vxo.2_Silent_p.V261V|MUTYH_uc001cng.2_Silent_p.V272V|MUTYH_uc001cnj.2_Silent_p.V169V|MUTYH_uc001cni.2_Silent_p.V261V|MUTYH_uc001cnh.2_Silent_p.V262V|MUTYH_uc001cno.2_Silent_p.V169V|MUTYH_uc001cnk.2_Silent_p.V146V|MUTYH_uc010oll.1_Intron|MUTYH_uc001cnl.2_Silent_p.V275V|MUTYH_uc009vxp.2_Silent_p.V289V|MUTYH_uc001cnn.2_Silent_p.V276V	p.V286V	NM_012222	NP_036354	Q9UIF7	MUTYH_HUMAN			10	1074	-	Acute lymphoblastic leukemia(166;0.155)		286					D3DPZ4|Q15830|Q9UBP2|Q9UBS7|Q9UIF4|Q9UIF5|Q9UIF6	Silent	SNP	ENST00000372098.3	37	c.858G>T	CCDS520.1	.	.	.	.	.	.	.	.	.	.	C	7.044	0.563047	0.13498	.	.	ENSG00000132781	ENST00000529892	.	.	.	5.51	3.57	0.40892	.	.	.	.	.	T	0.59376	0.2189	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.56517	-0.7966	4	.	.	.	-10.8868	9.3931	0.38386	0.0:0.746:0.1188:0.1352	.	.	.	.	F	16	.	.	C	-	2	0	MUTYH	45570491	1.000000	0.71417	1.000000	0.80357	0.949000	0.60115	0.990000	0.29642	1.323000	0.45263	0.563000	0.77884	TGT		PASS	0.627	MUTYH-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000020529.1	NM_012222		24	31	24	31	---	---	---	---
MROH7	374977	broad.mit.edu	37	1	55144477	55144477	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2766-01A-01D-1522-08	TCGA-66-2766-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	452b75d0-1818-46aa-8804-9cfc0bd66449	81a4d615-e95e-4c17-87f7-c06d8dd4975a	g.chr1:55144477G>T	ENST00000421030.2	+	11	2284	c.1999G>T	c.(1999-2001)Ggg>Tgg	p.G667W	MROH7_ENST00000454855.2_Missense_Mutation_p.G185W|MROH7_ENST00000395690.2_Missense_Mutation_p.G667W|MROH7-TTC4_ENST00000414150.2_Missense_Mutation_p.G667W|MROH7_ENST00000545244.1_Missense_Mutation_p.G235W|MROH7_ENST00000339553.5_Missense_Mutation_p.G667W|MROH7_ENST00000409996.1_Missense_Mutation_p.G235W	NM_001039464.2	NP_001034553	Q68CQ1	MROH7_HUMAN	maestro heat-like repeat family member 7	667						extracellular space (GO:0005615)|integral component of membrane (GO:0016021)		p.G667W(2)									GCATTTCCTGGGGCCCTACAA	0.577																																						uc010ooe.1																			2	Substitution - Missense(2)		lung(2)		0						c.(1999-2001)GGG>TGG		hypothetical protein LOC374977							88.0	97.0	94.0					1																	55144477		1968	4139	6107	SO:0001583	missense	374977					integral to membrane	binding	g.chr1:55144477G>T	AL832492	CCDS41342.2	1p32.3	2012-12-19	2012-12-19	2012-12-19	ENSG00000184313	ENSG00000184313		"""maestro heat-like repeat containing"""	24802	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 175"", ""HEAT repeat containing 8"""	C1orf175, HEATR8		12477932	Standard	NM_001039464		Approved	FLJ46354	uc010ooe.1	Q68CQ1	OTTHUMG00000009890	ENST00000421030.2:c.1999G>T	1.37:g.55144477G>T	ENSP00000396622:p.Gly667Trp					C1orf175_uc001cxq.2_RNA|C1orf175_uc010ooc.1_Missense_Mutation_p.G235W|C1orf175_uc001cxs.2_RNA|C1orf175_uc010ood.1_Missense_Mutation_p.G185W|C1orf175_uc010oof.1_RNA|C1orf175_uc001cxr.1_RNA|C1orf175_uc010oog.1_Missense_Mutation_p.G667W|C1orf175_uc010ooh.1_RNA|C1orf175_uc009vzq.1_RNA|C1orf175_uc001cxt.1_RNA	p.G667W	NM_001039464	NP_001034553	Q68CQ1	HEAT8_HUMAN			11	2323	+			667					A0AUX8|Q5TA99|Q6ZP40|Q6ZRH6|Q8N311|Q8NA14	Missense_Mutation	SNP	ENST00000421030.2	37	c.1999G>T	CCDS41342.2	.	.	.	.	.	.	.	.	.	.	G	18.92	3.725579	0.68959	.	.	ENSG00000184313	ENST00000421030;ENST00000545244;ENST00000414867;ENST00000339553;ENST00000409996;ENST00000454855;ENST00000395690	T;T;T;T;T;T	0.33216	1.42;1.42;1.42;1.42;1.42;1.42	5.05	5.05	0.67936	.	0.320745	0.22306	N	0.061795	T	0.51568	0.1682	L	0.56769	1.78	0.44469	D	0.997405	D;D;D	0.89917	1.0;0.999;0.996	D;D;P	0.97110	1.0;0.98;0.895	T	0.52997	-0.8500	10	0.87932	D	0	-4.3023	13.939	0.64043	0.0:0.0:1.0:0.0	.	667;667;235	F8W8P2;Q68CQ1;F5H7R4	.;HEAT8_HUMAN;.	W	667;235;696;667;235;185;667	ENSP00000396622:G667W;ENSP00000442333:G235W;ENSP00000343211:G667W;ENSP00000387048:G235W;ENSP00000401130:G185W;ENSP00000379044:G667W	ENSP00000343211:G667W	G	+	1	0	HEATR8	54917065	1.000000	0.71417	1.000000	0.80357	0.932000	0.56968	4.251000	0.58778	2.338000	0.79540	0.563000	0.77884	GGG		PASS	0.577	MROH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346978.1	NM_198547		19	37	19	37	---	---	---	---
ERICH3	127254	broad.mit.edu	37	1	75097473	75097473	+	Missense_Mutation	SNP	T	T	C			TCGA-66-2766-01A-01D-1522-08	TCGA-66-2766-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	452b75d0-1818-46aa-8804-9cfc0bd66449	81a4d615-e95e-4c17-87f7-c06d8dd4975a	g.chr1:75097473T>C	ENST00000326665.5	-	7	961	c.743A>G	c.(742-744)aAt>aGt	p.N248S	C1orf173_ENST00000420661.2_Missense_Mutation_p.N51S	NM_001002912.4	NP_001002912.4	Q5RHP9	ERIC3_HUMAN		248								p.N248S(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						TTCAGATCTATTTTCTCTTGT	0.378																																						uc001dgg.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)	5						c.(742-744)AAT>AGT		hypothetical protein LOC127254							191.0	172.0	179.0					1																	75097473		2203	4300	6503	SO:0001583	missense	127254							g.chr1:75097473T>C																												ENST00000326665.5:c.743A>G	1.37:g.75097473T>C	ENSP00000322609:p.Asn248Ser					C1orf173_uc001dgi.3_Missense_Mutation_p.N42S	p.N248S	NM_001002912	NP_001002912	Q5RHP9	CA173_HUMAN			7	962	-			248					Q68DL8|Q6GMR8|Q6ZSF9|Q8ND41	Missense_Mutation	SNP	ENST00000326665.5	37	c.743A>G	CCDS30755.1	.	.	.	.	.	.	.	.	.	.	T	0.284	-0.984495	0.02180	.	.	ENSG00000178965	ENST00000326665;ENST00000420661	T;T	0.17213	2.74;2.29	5.39	-3.01	0.05463	.	.	.	.	.	T	0.01835	0.0058	N	0.17474	0.49	0.09310	N	1	B;B	0.29988	0.084;0.264	B;B	0.24006	0.022;0.05	T	0.44590	-0.9318	9	0.22109	T	0.4	-3.0993	1.4262	0.02324	0.1411:0.313:0.2097:0.3362	.	51;248	Q5RHP9-3;Q5RHP9	.;CA173_HUMAN	S	248;51	ENSP00000322609:N248S;ENSP00000398581:N51S	ENSP00000322609:N248S	N	-	2	0	C1orf173	74870061	0.009000	0.17119	0.000000	0.03702	0.013000	0.08279	0.272000	0.18644	-0.170000	0.10816	-0.256000	0.11100	AAT		PASS	0.378	C1orf173-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026516.1			59	117	59	117	---	---	---	---
CRYZ	1429	broad.mit.edu	37	1	75185016	75185016	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2766-01A-01D-1522-08	TCGA-66-2766-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	452b75d0-1818-46aa-8804-9cfc0bd66449	81a4d615-e95e-4c17-87f7-c06d8dd4975a	g.chr1:75185016C>A	ENST00000340866.5	-	4	392	c.305G>T	c.(304-306)gGt>gTt	p.G102V	CRYZ_ENST00000370871.3_Missense_Mutation_p.G102V|CRYZ_ENST00000417775.1_Missense_Mutation_p.G102V|CRYZ_ENST00000370872.3_Intron	NM_001889.3	NP_001880.2	Q08257	QOR_HUMAN	crystallin, zeta (quinone reductase)	102					protein homotetramerization (GO:0051289)|visual perception (GO:0007601)|xenobiotic catabolic process (GO:0042178)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)	mRNA 3'-UTR binding (GO:0003730)|NADPH binding (GO:0070402)|NADPH:quinone reductase activity (GO:0003960)|zinc ion binding (GO:0008270)	p.G102V(1)		NS(1)|breast(1)|kidney(1)|large_intestine(2)|lung(5)	10					Dicoumarol(DB00266)	CTCTGCATAACCCCCAGAGAT	0.403																																						uc001dgk.2																			1	Substitution - Missense(1)		lung(1)		0						c.(304-306)GGT>GTT		crystallin, zeta isoform a	Dicumarol(DB00266)						101.0	98.0	99.0					1																	75185016		2203	4300	6503	SO:0001583	missense	1429				protein homotetramerization|visual perception|xenobiotic catabolic process	cytosol|Golgi apparatus	mRNA 3'-UTR binding|NADPH binding|NADPH:quinone reductase activity|zinc ion binding	g.chr1:75185016C>A		CCDS665.1, CCDS44162.1, CCDS44163.1	1p31.1	2013-02-14			ENSG00000116791	ENSG00000116791			2419	protein-coding gene	gene with protein product		123691					Standard	NM_001889		Approved		uc001dgj.3	Q08257	OTTHUMG00000009620	ENST00000340866.5:c.305G>T	1.37:g.75185016C>A	ENSP00000339399:p.Gly102Val					CRYZ_uc001dgj.2_Missense_Mutation_p.G102V|CRYZ_uc001dgl.2_Missense_Mutation_p.G102V|CRYZ_uc001dgm.2_Intron	p.G102V	NM_001130042	NP_001123514	Q08257	QOR_HUMAN			5	810	-			102					A6NN60|D3DQ76|Q53FT0|Q59EU7|Q5HYE7|Q6NSK9	Missense_Mutation	SNP	ENST00000340866.5	37	c.305G>T	CCDS665.1	.	.	.	.	.	.	.	.	.	.	C	11.52	1.664412	0.29604	.	.	ENSG00000116791	ENST00000340866;ENST00000417775;ENST00000370871;ENST00000370870;ENST00000441120	T;T;T;T;T	0.50813	0.73;0.73;0.73;0.73;0.73	5.27	4.35	0.52113	GroES-like (1);Alcohol dehydrogenase GroES-like (1);	0.149106	0.64402	D	0.000012	T	0.50633	0.1627	L	0.41236	1.265	0.80722	D	1	P;D	0.89917	0.943;1.0	P;D	0.72982	0.628;0.979	T	0.58787	-0.7575	10	0.87932	D	0	.	15.8013	0.78454	0.0:0.8631:0.1368:0.0	.	102;102	A6NN60;Q08257	.;QOR_HUMAN	V	102	ENSP00000339399:G102V;ENSP00000399805:G102V;ENSP00000359908:G102V;ENSP00000359907:G102V;ENSP00000404289:G102V	ENSP00000339399:G102V	G	-	2	0	CRYZ	74957604	1.000000	0.71417	1.000000	0.80357	0.020000	0.10135	5.310000	0.65780	1.335000	0.45486	0.460000	0.39030	GGT		PASS	0.403	CRYZ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026514.1			36	55	36	55	---	---	---	---
SLC44A5	204962	broad.mit.edu	37	1	75684271	75684271	+	Missense_Mutation	SNP	G	G	A			TCGA-66-2766-01A-01D-1522-08	TCGA-66-2766-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	452b75d0-1818-46aa-8804-9cfc0bd66449	81a4d615-e95e-4c17-87f7-c06d8dd4975a	g.chr1:75684271G>A	ENST00000370855.5	-	17	1546	c.1433C>T	c.(1432-1434)gCc>gTc	p.A478V	SLC44A5_ENST00000370859.3_Missense_Mutation_p.A478V|SLC44A5_ENST00000535611.1_Missense_Mutation_p.A348V	NM_152697.4	NP_689910.2	Q8NCS7	CTL5_HUMAN	solute carrier family 44, member 5	478					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.A478V(1)		kidney(1)|large_intestine(13)|lung(35)|ovary(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	61						ACCAGCAAGGGCGCACTGACC	0.433																																						uc001dgu.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(2)	4						c.(1432-1434)GCC>GTC		solute carrier family 44, member 5 isoform A							146.0	136.0	139.0					1																	75684271		2203	4300	6503	SO:0001583	missense	204962					integral to membrane|plasma membrane	choline transmembrane transporter activity	g.chr1:75684271G>A	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.1433C>T	1.37:g.75684271G>A	ENSP00000359892:p.Ala478Val					SLC44A5_uc001dgt.2_Missense_Mutation_p.A478V|SLC44A5_uc001dgs.2_Missense_Mutation_p.A436V|SLC44A5_uc001dgr.2_Missense_Mutation_p.A436V|SLC44A5_uc010oqz.1_Missense_Mutation_p.A517V|SLC44A5_uc010ora.1_Missense_Mutation_p.A472V|SLC44A5_uc010orb.1_Missense_Mutation_p.A348V	p.A478V	NM_152697	NP_689910	Q8NCS7	CTL5_HUMAN			17	1577	-			478			Helical; (Potential).		B5MCU3|Q4G0K0|Q8NA44|Q8NB86	Missense_Mutation	SNP	ENST00000370855.5	37	c.1433C>T	CCDS667.1	.	.	.	.	.	.	.	.	.	.	G	12.06	1.825942	0.32237	.	.	ENSG00000137968	ENST00000370859;ENST00000536707;ENST00000370855;ENST00000535611;ENST00000535790	T;T;T	0.19938	2.11;2.11;2.11	5.6	5.6	0.85130	.	0.470590	0.26359	N	0.024827	T	0.04543	0.0124	N	0.04787	-0.16	0.53005	D	0.999968	B;B;B;B;B	0.16603	0.007;0.004;0.007;0.018;0.006	B;B;B;B;B	0.20184	0.017;0.007;0.028;0.024;0.016	T	0.22277	-1.0221	10	0.05525	T	0.97	1.0E-4	19.9938	0.97376	0.0:0.0:1.0:0.0	.	472;517;478;478;517	B7Z5Y4;B7Z470;Q8NCS7;Q8NCS7-2;F5GYS0	.;.;CTL5_HUMAN;.;.	V	478;517;478;348;471	ENSP00000359896:A478V;ENSP00000359892:A478V;ENSP00000443090:A348V	ENSP00000359892:A478V	A	-	2	0	SLC44A5	75456859	1.000000	0.71417	0.992000	0.48379	0.435000	0.31806	9.835000	0.99442	2.814000	0.96858	0.655000	0.94253	GCC		PASS	0.433	SLC44A5-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000026921.1	NM_152697		82	131	82	131	---	---	---	---
SLC44A5	204962	broad.mit.edu	37	1	75699737	75699737	+	Silent	SNP	G	G	A			TCGA-66-2766-01A-01D-1522-08	TCGA-66-2766-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	452b75d0-1818-46aa-8804-9cfc0bd66449	81a4d615-e95e-4c17-87f7-c06d8dd4975a	g.chr1:75699737G>A	ENST00000370855.5	-	12	900	c.787C>T	c.(787-789)Ctg>Ttg	p.L263L	SLC44A5_ENST00000370859.3_Silent_p.L263L|SLC44A5_ENST00000535611.1_Silent_p.L133L	NM_152697.4	NP_689910.2	Q8NCS7	CTL5_HUMAN	solute carrier family 44, member 5	263					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.L263L(1)		kidney(1)|large_intestine(13)|lung(35)|ovary(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	61						ATGAACCTCAGAAGTATCAAA	0.398																																						uc001dgu.2																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|skin(2)	4						c.(787-789)CTG>TTG		solute carrier family 44, member 5 isoform A							140.0	139.0	140.0					1																	75699737		2203	4300	6503	SO:0001819	synonymous_variant	204962					integral to membrane|plasma membrane	choline transmembrane transporter activity	g.chr1:75699737G>A	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.787C>T	1.37:g.75699737G>A						SLC44A5_uc001dgt.2_Silent_p.L263L|SLC44A5_uc001dgs.2_Silent_p.L221L|SLC44A5_uc001dgr.2_Silent_p.L221L|SLC44A5_uc010oqz.1_Silent_p.L302L|SLC44A5_uc010ora.1_Silent_p.L257L|SLC44A5_uc010orb.1_Silent_p.L133L	p.L263L	NM_152697	NP_689910	Q8NCS7	CTL5_HUMAN			12	931	-			263			Helical; (Potential).		B5MCU3|Q4G0K0|Q8NA44|Q8NB86	Silent	SNP	ENST00000370855.5	37	c.787C>T	CCDS667.1																																																																																				PASS	0.398	SLC44A5-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000026921.1	NM_152697		53	116	53	116	---	---	---	---
LPHN2	23266	broad.mit.edu	37	1	82408659	82408659	+	Missense_Mutation	SNP	T	T	C			TCGA-66-2766-01A-01D-1522-08	TCGA-66-2766-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	452b75d0-1818-46aa-8804-9cfc0bd66449	81a4d615-e95e-4c17-87f7-c06d8dd4975a	g.chr1:82408659T>C	ENST00000370728.1	+	8	1049	c.404T>C	c.(403-405)gTg>gCg	p.V135A	LPHN2_ENST00000370730.1_Missense_Mutation_p.V135A|LPHN2_ENST00000370723.1_Missense_Mutation_p.V135A|LPHN2_ENST00000370727.1_Missense_Mutation_p.V135A|LPHN2_ENST00000319517.6_Missense_Mutation_p.V135A|LPHN2_ENST00000370717.2_Missense_Mutation_p.V135A|LPHN2_ENST00000335786.5_Missense_Mutation_p.V135A|LPHN2_ENST00000469377.2_Intron|LPHN2_ENST00000370725.1_Missense_Mutation_p.V135A|LPHN2_ENST00000370715.1_Missense_Mutation_p.V135A|LPHN2_ENST00000370721.1_Missense_Mutation_p.V139A|LPHN2_ENST00000394879.1_Missense_Mutation_p.V135A|LPHN2_ENST00000370713.1_Missense_Mutation_p.V135A|LPHN2_ENST00000271029.4_Missense_Mutation_p.V135A|LPHN2_ENST00000359929.3_Missense_Mutation_p.V135A			O95490	LPHN2_HUMAN	latrophilin 2	135	Olfactomedin-like. {ECO:0000255|PROSITE- ProRule:PRU00446}.				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)|latrotoxin receptor activity (GO:0016524)	p.V135A(2)		NS(3)|breast(6)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(37)|ovary(3)|pancreas(1)|prostate(3)|skin(22)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	119				all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248)		TTAGTTTTTGTGTGTCCTGGG	0.398																																						uc001dit.3																			2	Substitution - Missense(2)		lung(2)	ovary(3)|lung(3)|breast(2)|central_nervous_system(1)	9						c.(403-405)GTG>GCG		latrophilin 2 precursor							69.0	73.0	72.0					1																	82408659		2202	4296	6498	SO:0001583	missense	23266				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|latrotoxin receptor activity|sugar binding	g.chr1:82408659T>C	AJ131581	CCDS689.1, CCDS72811.1	1p31.1	2014-08-08	2003-03-17	2003-05-02	ENSG00000117114	ENSG00000117114		"""-"", ""GPCR / Class B : Orphans"""	18582	protein-coding gene	gene with protein product		607018	"""latrophilin 1"""	LPHH1		10760572	Standard	XR_248786		Approved	KIAA0786, LEC1	uc001diu.3	O95490	OTTHUMG00000009844	ENST00000370728.1:c.404T>C	1.37:g.82408659T>C	ENSP00000359763:p.Val135Ala					LPHN2_uc001dis.2_Intron|LPHN2_uc001diu.2_Missense_Mutation_p.V135A|LPHN2_uc001div.2_Missense_Mutation_p.V135A|LPHN2_uc009wcd.2_Missense_Mutation_p.V135A	p.V135A	NM_012302	NP_036434	O95490	LPHN2_HUMAN		all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248)	6	585	+			135			Extracellular (Potential).|Olfactomedin-like.		A5XEI2|B1ALT8|B1ALT9|B1ALU0|B1ALU2|B1ALU4|B1ALU5|B1ALU6|O94882|Q5VX76|Q9UKY5|Q9UKY6	Missense_Mutation	SNP	ENST00000370728.1	37	c.404T>C		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	15.39|15.39	2.819077|2.819077	0.50633|0.50633	.|.	.|.	ENSG00000117114|ENSG00000117114	ENST00000449420|ENST00000370721;ENST00000370728;ENST00000370730;ENST00000370727;ENST00000370725;ENST00000370723;ENST00000359929;ENST00000370715;ENST00000370713;ENST00000319517;ENST00000370717;ENST00000394879;ENST00000271029;ENST00000335786	.|T;T;T;T;T;T;T;T;T;T;T;T;T;T	.|0.70045	.|-0.38;-0.45;-0.42;-0.36;-0.39;-0.34;-0.38;-0.4;-0.39;-0.38;-0.39;-0.34;-0.36;-0.42	5.9|5.9	5.9|5.9	0.94986|0.94986	.|.	.|0.141480	.|0.49305	.|D	.|0.000153	T|T	0.54351|0.54351	0.1853|0.1853	L|L	0.43923|0.43923	1.385|1.385	0.58432|0.58432	D|D	0.99999|0.99999	.|P;P;P	.|0.39903	.|0.516;0.649;0.694	.|B;B;B	.|0.42030	.|0.373;0.228;0.358	T|T	0.62996|0.62996	-0.6735|-0.6735	5|10	.|0.66056	.|D	.|0.02	.|.	16.3322|16.3322	0.83039|0.83039	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	.|135;135;135	.|O95490-3;O95490-4;O95490-2	.|.;.;.	R|A	3|139;135;135;135;135;135;135;135;135;135;135;135;135;135	.|ENSP00000359756:V139A;ENSP00000359763:V135A;ENSP00000359765:V135A;ENSP00000359762:V135A;ENSP00000359760:V135A;ENSP00000359758:V135A;ENSP00000353006:V135A;ENSP00000359750:V135A;ENSP00000359748:V135A;ENSP00000322270:V135A;ENSP00000359752:V135A;ENSP00000378344:V135A;ENSP00000271029:V135A;ENSP00000337306:V135A	.|ENSP00000271029:V135A	C|V	+|+	1|2	0|0	LPHN2|LPHN2	82181247|82181247	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	8.040000|8.040000	0.89188|0.89188	2.251000|2.251000	0.74343|0.74343	0.528000|0.528000	0.53228|0.53228	TGT|GTG		PASS	0.398	LPHN2-007	KNOWN	non_canonical_conserved|not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000027188.1	NM_012302		59	120	59	120	---	---	---	---
GCLM	2730	broad.mit.edu	37	1	94360225	94360225	+	Silent	SNP	C	C	T			TCGA-66-2766-01A-01D-1522-08	TCGA-66-2766-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	452b75d0-1818-46aa-8804-9cfc0bd66449	81a4d615-e95e-4c17-87f7-c06d8dd4975a	g.chr1:94360225C>T	ENST00000370238.3	-	6	846	c.600G>A	c.(598-600)ttG>ttA	p.L200L	GCLM_ENST00000467772.1_5'UTR	NM_002061.2	NP_002052.1	P48507	GSH0_HUMAN	glutamate-cysteine ligase, modifier subunit	200					apoptotic mitochondrial changes (GO:0008637)|cellular nitrogen compound metabolic process (GO:0034641)|cysteine metabolic process (GO:0006534)|glutamate metabolic process (GO:0006536)|glutathione biosynthetic process (GO:0006750)|glutathione derivative biosynthetic process (GO:1901687)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of neuron apoptotic process (GO:0043524)|positive regulation of glutamate-cysteine ligase activity (GO:0035229)|regulation of blood vessel size (GO:0050880)|regulation of mitochondrial depolarization (GO:0051900)|response to drug (GO:0042493)|response to nitrosative stress (GO:0051409)|response to oxidative stress (GO:0006979)|small molecule metabolic process (GO:0044281)|sulfur amino acid metabolic process (GO:0000096)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)|glutamate-cysteine ligase complex (GO:0017109)	glutamate-cysteine ligase activity (GO:0004357)|glutamate-cysteine ligase catalytic subunit binding (GO:0035226)	p.L200L(1)		endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	10		all_lung(203;0.000815)|Lung NSC(277;0.00363)		all cancers(265;0.00566)|GBM - Glioblastoma multiforme(16;0.0203)|Epithelial(280;0.131)	L-Cysteine(DB00151)	CAAATGCAGTCAAATCTGGTG	0.323																																						uc001dqg.1																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(598-600)TTG>TTA		glutamate-cysteine ligase regulatory protein	L-Cysteine(DB00151)|L-Glutamic Acid(DB00142)						153.0	149.0	150.0					1																	94360225		2203	4300	6503	SO:0001819	synonymous_variant	2730				glutamate metabolic process|glutathione biosynthetic process|regulation of blood vessel size|response to drug|response to oxidative stress|xenobiotic metabolic process	cytosol|soluble fraction	glutamate-cysteine ligase catalytic subunit binding	g.chr1:94360225C>T	L35546	CCDS746.1	1p21	2008-02-05			ENSG00000023909	ENSG00000023909	6.3.2.2		4312	protein-coding gene	gene with protein product	"""gamma-glutamylcysteine synthetase"""	601176		GLCLR		7826375	Standard	NM_002061		Approved		uc001dqg.1	P48507	OTTHUMG00000010562	ENST00000370238.3:c.600G>A	1.37:g.94360225C>T							p.L200L	NM_002061	NP_002052	P48507	GSH0_HUMAN		all cancers(265;0.00566)|GBM - Glioblastoma multiforme(16;0.0203)|Epithelial(280;0.131)	6	893	-		all_lung(203;0.000815)|Lung NSC(277;0.00363)	200					A8K334|D3DT45|M5A959|Q6FHC1|Q9NPX9|Q9NU74	Silent	SNP	ENST00000370238.3	37	c.600G>A	CCDS746.1																																																																																				PASS	0.323	GCLM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029169.1	NM_002061		67	118	67	118	---	---	---	---
ARHGAP29	9411	broad.mit.edu	37	1	94645435	94645435	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2766-01A-01D-1522-08	TCGA-66-2766-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	452b75d0-1818-46aa-8804-9cfc0bd66449	81a4d615-e95e-4c17-87f7-c06d8dd4975a	g.chr1:94645435C>G	ENST00000260526.6	-	20	2508	c.2326G>C	c.(2326-2328)Gaa>Caa	p.E776Q	ARHGAP29_ENST00000482481.1_5'UTR	NM_004815.3	NP_004806.3	Q52LW3	RHG29_HUMAN	Rho GTPase activating protein 29	776	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				positive regulation of Rho GTPase activity (GO:0032321)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	metal ion binding (GO:0046872)|PDZ domain binding (GO:0030165)|Rho GTPase activator activity (GO:0005100)	p.E776Q(1)		NS(1)|breast(5)|endometrium(6)|kidney(2)|large_intestine(9)|lung(19)|ovary(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	54		all_lung(203;0.000732)|Lung NSC(277;0.00328)		all cancers(265;0.0187)|Epithelial(280;0.159)		GTCTCTTGTTCTTCATTTACA	0.299																																						uc001dqj.3																			1	Substitution - Missense(1)		lung(1)	breast(4)|skin(3)|lung(2)|upper_aerodigestive_tract(1)|ovary(1)	11						c.(2326-2328)GAA>CAA		PTPL1-associated RhoGAP 1							145.0	140.0	141.0					1																	94645435		2203	4297	6500	SO:0001583	missense	9411				Rho protein signal transduction	cytosol	metal ion binding|Rho GTPase activator activity	g.chr1:94645435C>G		CCDS748.1	1p22.1	2011-06-29			ENSG00000137962	ENSG00000137962		"""Rho GTPase activating proteins"""	30207	protein-coding gene	gene with protein product		610496				9305890	Standard	NM_004815		Approved	PARG1	uc001dqj.4	Q52LW3	OTTHUMG00000010643	ENST00000260526.6:c.2326G>C	1.37:g.94645435C>G	ENSP00000260526:p.Glu776Gln					ARHGAP29_uc009wdq.1_RNA|ARHGAP29_uc001dqk.2_Missense_Mutation_p.E342Q	p.E776Q	NM_004815	NP_004806	Q52LW3	RHG29_HUMAN		all cancers(265;0.0187)|Epithelial(280;0.159)	20	2695	-		all_lung(203;0.000732)|Lung NSC(277;0.00328)	776			Rho-GAP.		O15463|Q59H86|Q5VYZ0|Q6NVX2|Q8TBI6	Missense_Mutation	SNP	ENST00000260526.6	37	c.2326G>C	CCDS748.1	.	.	.	.	.	.	.	.	.	.	C	20.7	4.039058	0.75617	.	.	ENSG00000137962	ENST00000260526	T	0.17691	2.26	6.07	6.07	0.98685	Rho GTPase-activating protein domain (4);Rho GTPase activation protein (1);	0.187546	0.25997	N	0.026978	T	0.37320	0.0999	M	0.72894	2.215	0.80722	D	1	P;D	0.67145	0.836;0.996	P;D	0.70487	0.603;0.969	T	0.04796	-1.0926	10	0.66056	D	0.02	-19.6264	20.6439	0.99570	0.0:1.0:0.0:0.0	.	776;776	F8VWZ8;Q52LW3	.;RHG29_HUMAN	Q	776	ENSP00000260526:E776Q	ENSP00000260526:E776Q	E	-	1	0	ARHGAP29	94418023	1.000000	0.71417	1.000000	0.80357	0.452000	0.32318	7.336000	0.79245	2.890000	0.99128	0.650000	0.86243	GAA		PASS	0.299	ARHGAP29-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029376.2	NM_004815		44	104	44	104	---	---	---	---
COL11A1	1301	broad.mit.edu	37	1	103400066	103400066	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2766-01A-01D-1522-08	TCGA-66-2766-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	452b75d0-1818-46aa-8804-9cfc0bd66449	81a4d615-e95e-4c17-87f7-c06d8dd4975a	g.chr1:103400066C>A	ENST00000370096.3	-	46	3851	c.3539G>T	c.(3538-3540)gGg>gTg	p.G1180V	COL11A1_ENST00000358392.2_Missense_Mutation_p.G1192V|COL11A1_ENST00000512756.1_Missense_Mutation_p.G1064V|COL11A1_ENST00000353414.4_Missense_Mutation_p.G1141V	NM_001854.3	NP_001845.3	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	1180	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.G1192V(1)|p.G1180V(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)		ACCTTTTTGCCCAAACATCCC	0.453																																						uc001dul.2																			2	Substitution - Missense(2)		lung(2)	ovary(6)|breast(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)|pancreas(1)	12						c.(3538-3540)GGG>GTG		alpha 1 type XI collagen isoform A							121.0	110.0	113.0					1																	103400066		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.chr1:103400066C>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.3539G>T	1.37:g.103400066C>A	ENSP00000359114:p.Gly1180Val					COL11A1_uc001duk.2_Missense_Mutation_p.G376V|COL11A1_uc001dum.2_Missense_Mutation_p.G1192V|COL11A1_uc001dun.2_Missense_Mutation_p.G1141V|COL11A1_uc009weh.2_Missense_Mutation_p.G1064V	p.G1180V	NM_001854	NP_001845	P12107	COBA1_HUMAN		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)	46	3857	-		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)	1180			Triple-helical region.		B1ASK7|D3DT73|E9PCU0|Q14034|Q149N0|Q9UIT4|Q9UIT5|Q9UIT6	Missense_Mutation	SNP	ENST00000370096.3	37	c.3539G>T	CCDS778.1	.	.	.	.	.	.	.	.	.	.	C	20.7	4.037205	0.75617	.	.	ENSG00000060718	ENST00000370096;ENST00000358392;ENST00000353414;ENST00000370090;ENST00000512756	D;D;D;D	0.99637	-6.29;-6.29;-6.29;-6.29	5.52	5.52	0.82312	.	0.000000	0.85682	D	0.000000	D	0.99859	0.9934	H	0.98295	4.195	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	0.999;1.0;1.0;0.999;1.0	D	0.96569	0.9421	10	0.87932	D	0	.	19.4383	0.94807	0.0:1.0:0.0:0.0	.	1064;1141;1192;1180;400	E9PCU0;P12107-3;P12107-2;P12107;F5H5Z5	.;.;.;COBA1_HUMAN;.	V	1180;1192;1141;400;1064	ENSP00000359114:G1180V;ENSP00000351163:G1192V;ENSP00000302551:G1141V;ENSP00000426533:G1064V	ENSP00000302551:G1141V	G	-	2	0	COL11A1	103172654	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	7.752000	0.85141	2.589000	0.87451	0.655000	0.94253	GGG		PASS	0.453	COL11A1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000029997.1	NM_080630		24	71	24	71	---	---	---	---
HENMT1	113802	broad.mit.edu	37	1	109198244	109198244	+	Missense_Mutation	SNP	C	C	A	rs141386408		TCGA-66-2766-01A-01D-1522-08	TCGA-66-2766-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	452b75d0-1818-46aa-8804-9cfc0bd66449	81a4d615-e95e-4c17-87f7-c06d8dd4975a	g.chr1:109198244C>A	ENST00000370032.5	-	4	647	c.227G>T	c.(226-228)gGa>gTa	p.G76V	HENMT1_ENST00000402983.1_Missense_Mutation_p.G76V|HENMT1_ENST00000370031.1_Missense_Mutation_p.G76V|HENMT1_ENST00000493676.1_Intron	NM_144584.2	NP_653185.2	Q5T8I9	HENMT_HUMAN	HEN1 methyltransferase homolog 1 (Arabidopsis)	76					gene silencing by RNA (GO:0031047)|piRNA metabolic process (GO:0034587)|RNA methylation (GO:0001510)	P granule (GO:0043186)	metal ion binding (GO:0046872)|O-methyltransferase activity (GO:0008171)|RNA binding (GO:0003723)|RNA methyltransferase activity (GO:0008173)	p.G76V(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|ovary(2)|prostate(1)|skin(2)|stomach(1)	16						AATATCTACTCCAACAAGCAA	0.353																																						uc001dvt.3																			1	Substitution - Missense(1)		lung(1)		0						c.(226-228)GGA>GTA		hypothetical protein LOC113802		C	VAL/GLY,VAL/GLY	0,4406		0,0,2203	93.0	87.0	89.0		227,227	5.4	1.0	1	dbSNP_134	89	2,8598	2.2+/-6.3	0,2,4298	no	missense,missense	HENMT1	NM_001102592.1,NM_144584.2	109,109	0,2,6501	AA,AC,CC		0.0233,0.0,0.0154	probably-damaging,probably-damaging	76/394,76/394	109198244	2,13004	2203	4300	6503	SO:0001583	missense	113802				gene silencing by RNA|piRNA metabolic process	P granule	metal ion binding|O-methyltransferase activity|RNA binding|RNA methyltransferase activity	g.chr1:109198244C>A		CCDS787.1	1p13.3	2011-01-28	2011-01-28	2011-01-28	ENSG00000162639	ENSG00000162639			26400	protein-coding gene	gene with protein product	"""HEN1 methyltransferase homolog (Arabidopsis)"""	612178	"""chromosome 1 open reading frame 59"""	C1orf59			Standard	NM_144584		Approved	FLJ30525, HEN1	uc001dvt.4	Q5T8I9	OTTHUMG00000011123	ENST00000370032.5:c.227G>T	1.37:g.109198244C>A	ENSP00000359049:p.Gly76Val					C1orf59_uc001dvu.3_Missense_Mutation_p.G76V|C1orf59_uc009wer.2_Missense_Mutation_p.G76V	p.G76V	NM_001102592	NP_001096062	Q5T8I9	HENMT_HUMAN		Colorectal(144;0.0152)|Lung(183;0.0895)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.163)	4	465	-		all_epithelial(167;0.000154)|all_lung(203;0.00026)|Lung NSC(277;0.000508)	76					A8MRR6|B1AM16|B1AM17|Q96EJ7|Q96NN0	Missense_Mutation	SNP	ENST00000370032.5	37	c.227G>T	CCDS787.1	.	.	.	.	.	.	.	.	.	.	C	18.44	3.624274	0.66901	0.0	2.33E-4	ENSG00000162639	ENST00000402983;ENST00000370031;ENST00000370032;ENST00000420055	T;T;T;T	0.60299	0.2;0.2;0.2;0.2	5.41	5.41	0.78517	.	0.000000	0.85682	D	0.000000	T	0.80819	0.4696	M	0.94101	3.495	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.85779	0.1360	10	0.87932	D	0	-5.6753	18.7758	0.91911	0.0:1.0:0.0:0.0	.	76	Q5T8I9	HENMT_HUMAN	V	76	ENSP00000385655:G76V;ENSP00000359048:G76V;ENSP00000359049:G76V;ENSP00000403953:G76V	ENSP00000359048:G76V	G	-	2	0	HENMT1	108999767	1.000000	0.71417	1.000000	0.80357	0.430000	0.31655	7.049000	0.76613	2.543000	0.85770	0.650000	0.86243	GGA		PASS	0.353	HENMT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030592.1	NM_144584		14	53	14	53	---	---	---	---
DENND2D	79961	broad.mit.edu	37	1	111739856	111739856	+	Missense_Mutation	SNP	C	C	T	rs140232654	byFrequency	TCGA-66-2766-01A-01D-1522-08	TCGA-66-2766-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	452b75d0-1818-46aa-8804-9cfc0bd66449	81a4d615-e95e-4c17-87f7-c06d8dd4975a	g.chr1:111739856C>T	ENST00000357640.4	-	5	675	c.446G>A	c.(445-447)cGc>cAc	p.R149H	DENND2D_ENST00000473682.1_5'UTR|DENND2D_ENST00000369752.5_Missense_Mutation_p.R146H	NM_024901.3	NP_079177.2	Q9H6A0	DEN2D_HUMAN	DENN/MADD domain containing 2D	149	DENN. {ECO:0000255|PROSITE- ProRule:PRU00304}.				positive regulation of Rab GTPase activity (GO:0032851)	cytoplasm (GO:0005737)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)	p.R149H(1)		breast(1)|endometrium(1)|kidney(7)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	25		all_cancers(81;0.00198)|all_epithelial(167;0.000686)|all_lung(203;0.00318)|Lung NSC(277;0.00499)		Lung(183;0.0162)|Colorectal(144;0.069)|all cancers(265;0.0757)|LUSC - Lung squamous cell carcinoma(189;0.0845)|Epithelial(280;0.114)|COAD - Colon adenocarcinoma(174;0.14)		TTTGGGAAGGCGAGGGCCAGG	0.607													C|||	4	0.000798722	0.0008	0.0	5008	,	,		19391	0.0		0.003	False		,,,				2504	0.0					uc001eak.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(445-447)CGC>CAC		DENN/MADD domain containing 2D		C	HIS/ARG	0,4406		0,0,2203	46.0	40.0	42.0		446	4.7	1.0	1	dbSNP_134	42	42,8558	27.9+/-77.7	0,42,4258	yes	missense	DENND2D	NM_024901.3	29	0,42,6461	TT,TC,CC		0.4884,0.0,0.3229	benign	149/472	111739856	42,12964	2203	4300	6503	SO:0001583	missense	79961							g.chr1:111739856C>T		CCDS831.1, CCDS60219.1	1p13.3	2014-02-12	2005-08-17		ENSG00000162777	ENSG00000162777		"""DENN/MADD domain containing"""	26192	protein-coding gene	gene with protein product		615111				12477932	Standard	NM_024901		Approved	FLJ22457, RP5-1180E21.2	uc001eal.2	Q9H6A0	OTTHUMG00000012356	ENST00000357640.4:c.446G>A	1.37:g.111739856C>T	ENSP00000350266:p.Arg149His					DENND2D_uc001eal.1_Missense_Mutation_p.R146H	p.R149H	NM_024901	NP_079177	Q9H6A0	DEN2D_HUMAN		Lung(183;0.0162)|Colorectal(144;0.069)|all cancers(265;0.0757)|LUSC - Lung squamous cell carcinoma(189;0.0845)|Epithelial(280;0.114)|COAD - Colon adenocarcinoma(174;0.14)	5	646	-		all_cancers(81;0.00198)|all_epithelial(167;0.000686)|all_lung(203;0.00318)|Lung NSC(277;0.00499)	149			DENN.		Q5T5V6|Q9BSU0	Missense_Mutation	SNP	ENST00000357640.4	37	c.446G>A	CCDS831.1	4	0.0018315018315018315	0	0.0	0	0.0	0	0.0	4	0.005277044854881266	C	19.97	3.925551	0.73213	0.0	0.004884	ENSG00000162777	ENST00000357640;ENST00000369752	T;T	0.17691	2.26;2.27	5.59	4.66	0.58398	DENN (2);	0.170385	0.38720	N	0.001594	T	0.14399	0.0348	M	0.82716	2.605	0.41738	D	0.989592	P;P	0.36282	0.49;0.546	B;B	0.36289	0.213;0.221	T	0.01940	-1.1243	10	0.48119	T	0.1	-13.487	13.0187	0.58773	0.0:0.9199:0.0:0.0801	.	146;149	Q9H6A0-2;Q9H6A0	.;DEN2D_HUMAN	H	149;146	ENSP00000350266:R149H;ENSP00000358767:R146H	ENSP00000350266:R149H	R	-	2	0	DENND2D	111541379	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	4.426000	0.59882	1.465000	0.48006	0.655000	0.94253	CGC		PASS	0.607	DENND2D-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000034456.1	NM_024901		7	15	7	15	---	---	---	---
HIPK1	204851	broad.mit.edu	37	1	114505001	114505001	+	Missense_Mutation	SNP	A	A	G			TCGA-66-2766-01A-01D-1522-08	TCGA-66-2766-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	452b75d0-1818-46aa-8804-9cfc0bd66449	81a4d615-e95e-4c17-87f7-c06d8dd4975a	g.chr1:114505001A>G	ENST00000369558.1	+	9	2276	c.2044A>G	c.(2044-2046)Att>Gtt	p.I682V	HIPK1_ENST00000426820.2_Missense_Mutation_p.I682V|HIPK1_ENST00000369553.1_Missense_Mutation_p.I288V|HIPK1_ENST00000369559.4_Missense_Mutation_p.I682V|HIPK1_ENST00000340480.4_Missense_Mutation_p.I308V|HIPK1_ENST00000369554.2_Missense_Mutation_p.I682V|HIPK1_ENST00000406344.1_Missense_Mutation_p.I288V|HIPK1_ENST00000369561.4_Missense_Mutation_p.I648V|HIPK1_ENST00000369555.2_Missense_Mutation_p.I682V			Q86Z02	HIPK1_HUMAN	homeodomain interacting protein kinase 1	682					anterior/posterior pattern specification (GO:0009952)|definitive hemopoiesis (GO:0060216)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic retina morphogenesis in camera-type eye (GO:0060059)|endothelial cell apoptotic process (GO:0072577)|extrinsic apoptotic signaling pathway (GO:0097191)|eye development (GO:0001654)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|iris morphogenesis (GO:0061072)|lens induction in camera-type eye (GO:0060235)|neuron differentiation (GO:0030182)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell proliferation (GO:0008284)|regulation of transcription, DNA-templated (GO:0006355)|regulation of tumor necrosis factor-mediated signaling pathway (GO:0010803)|retina layer formation (GO:0010842)|smoothened signaling pathway (GO:0007224)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|PML body (GO:0016605)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)	p.I682V(2)		breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(15)|ovary(4)|prostate(2)	39	Lung SC(450;0.184)	all_cancers(81;4.5e-08)|all_epithelial(167;1.09e-07)|all_lung(203;1.53e-05)|Lung NSC(69;2.76e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		TGCTGTACCGATTGTACCCCA	0.443																																						uc001eem.2																			2	Substitution - Missense(2)		lung(2)	ovary(4)	4						c.(2044-2046)ATT>GTT		homeodomain-interacting protein kinase 1 isoform							108.0	101.0	103.0					1																	114505001		2203	4300	6503	SO:0001583	missense	204851				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	ATP binding|protein binding|protein serine/threonine kinase activity	g.chr1:114505001A>G	AB089957	CCDS867.1, CCDS868.1, CCDS869.1, CCDS41370.1	1p13.1	2008-02-05			ENSG00000163349	ENSG00000163349			19006	protein-coding gene	gene with protein product		608003					Standard	NM_198268		Approved	KIAA0630, Myak, MGC26642, Nbak2, MGC33446, MGC33548	uc001eem.3	Q86Z02	OTTHUMG00000011983	ENST00000369558.1:c.2044A>G	1.37:g.114505001A>G	ENSP00000358571:p.Ile682Val					HIPK1_uc001eel.2_Missense_Mutation_p.I682V|HIPK1_uc001een.2_Missense_Mutation_p.I682V|HIPK1_uc001eeo.2_Missense_Mutation_p.I308V|HIPK1_uc001eep.2_Missense_Mutation_p.I288V|HIPK1_uc001eeq.2_5'Flank	p.I682V	NM_198268	NP_938009	Q86Z02	HIPK1_HUMAN		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)	9	2205	+	Lung SC(450;0.184)	all_cancers(81;4.5e-08)|all_epithelial(167;1.09e-07)|all_lung(203;1.53e-05)|Lung NSC(69;2.76e-05)	682					A6NJ34|O75125|Q5SQL2|Q5SQL4|Q5SQL5|Q8IYD7|Q8NDN5|Q8NEB6|Q8TBZ1	Missense_Mutation	SNP	ENST00000369558.1	37	c.2044A>G	CCDS867.1	.	.	.	.	.	.	.	.	.	.	A	12.46	1.943427	0.34283	.	.	ENSG00000163349	ENST00000426820;ENST00000369559;ENST00000443627;ENST00000369554;ENST00000369555;ENST00000369558;ENST00000369561;ENST00000340480;ENST00000369553;ENST00000406344	T;T;T;T;T;T;T;T;T;T	0.51071	0.75;0.78;0.8;0.81;0.81;0.8;0.72;3.83;2.92;2.92	6.02	4.88	0.63580	.	0.075729	0.53938	D	0.000043	T	0.17831	0.0428	N	0.19112	0.55	0.46478	D	0.999061	B;B;B	0.25312	0.048;0.075;0.123	B;B;B	0.28784	0.094;0.028;0.063	T	0.05131	-1.0904	10	0.22109	T	0.4	.	13.6353	0.62219	0.8711:0.1289:0.0:0.0	.	288;682;682	Q86Z02-4;Q86Z02;Q86Z02-2	.;HIPK1_HUMAN;.	V	753;682;682;682;682;682;648;308;288;288	ENSP00000407442:I753V;ENSP00000358572:I682V;ENSP00000409673:I682V;ENSP00000358567:I682V;ENSP00000358568:I682V;ENSP00000358571:I682V;ENSP00000358574:I648V;ENSP00000340956:I308V;ENSP00000358566:I288V;ENSP00000384960:I288V	ENSP00000340956:I308V	I	+	1	0	HIPK1	114306524	0.947000	0.32204	0.998000	0.56505	0.748000	0.42578	2.287000	0.43505	1.069000	0.40788	0.533000	0.62120	ATT		PASS	0.443	HIPK1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000033127.1	NM_198268		23	61	23	61	---	---	---	---
SYT6	148281	broad.mit.edu	37	1	114680233	114680233	+	Missense_Mutation	SNP	A	A	T			TCGA-66-2766-01A-01D-1522-08	TCGA-66-2766-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	452b75d0-1818-46aa-8804-9cfc0bd66449	81a4d615-e95e-4c17-87f7-c06d8dd4975a	g.chr1:114680233A>T	ENST00000610222.1	-	3	1101	c.955T>A	c.(955-957)Ttt>Att	p.F319I	SYT6_ENST00000607941.1_Missense_Mutation_p.F234I|SYT6_ENST00000609117.1_Missense_Mutation_p.F234I|SYT6_ENST00000369547.1_Missense_Mutation_p.F234I|SYT6_ENST00000393296.1_Missense_Mutation_p.F319I			Q5T7P8	SYT6_HUMAN	synaptotagmin VI	319	C2 1. {ECO:0000255|PROSITE- ProRule:PRU00041}.				acrosomal vesicle exocytosis (GO:0060478)	cell junction (GO:0030054)|cytosol (GO:0005829)|extrinsic component of membrane (GO:0019898)|integral component of membrane (GO:0016021)|perinuclear endoplasmic reticulum (GO:0097038)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)	clathrin binding (GO:0030276)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|syntaxin binding (GO:0019905)|transporter activity (GO:0005215)	p.F234I(1)		central_nervous_system(1)|endometrium(3)|large_intestine(10)|lung(14)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	37	Lung SC(450;0.184)	all_cancers(81;4.41e-08)|all_epithelial(167;5.18e-08)|all_lung(203;1.58e-05)|Lung NSC(69;2.82e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		AAGCGGTCAAAGTCGAAGACA	0.552																																						uc001eev.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|central_nervous_system(1)|pancreas(1)	5						c.(700-702)TTT>ATT		synaptotagmin VI							96.0	90.0	92.0					1																	114680233		2203	4300	6503	SO:0001583	missense	148281				acrosomal vesicle exocytosis	cell junction|cytosol|integral to membrane|perinuclear endoplasmic reticulum|peripheral to membrane of membrane fraction|synaptic vesicle membrane	clathrin binding|metal ion binding|protein homodimerization activity|syntaxin binding|transporter activity	g.chr1:114680233A>T		CCDS871.1	1p13.1	2013-01-21			ENSG00000134207	ENSG00000134207		"""Synaptotagmins"""	18638	protein-coding gene	gene with protein product		607718				11543631	Standard	NM_205848		Approved		uc021orz.1	Q5T7P8	OTTHUMG00000011755	ENST00000610222.1:c.955T>A	1.37:g.114680233A>T	ENSP00000476396:p.Phe319Ile						p.F234I	NM_205848	NP_995320	Q5T7P8	SYT6_HUMAN		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)	3	950	-	Lung SC(450;0.184)	all_cancers(81;4.41e-08)|all_epithelial(167;5.18e-08)|all_lung(203;1.58e-05)|Lung NSC(69;2.82e-05)	319			Cytoplasmic (Potential).|C2 1.	Calcium 1; via carbonyl oxygen (By similarity).	B1AMB8|B3KPK1	Missense_Mutation	SNP	ENST00000610222.1	37	c.700T>A		.	.	.	.	.	.	.	.	.	.	A	24.2	4.502275	0.85176	.	.	ENSG00000134207	ENST00000369547;ENST00000393296;ENST00000369546;ENST00000369545	T;T;T;T	0.69306	-0.39;-0.39;-0.39;-0.39	5.45	5.45	0.79879	C2 membrane targeting protein (1);C2 region (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.000000	0.85682	D	0.000000	T	0.79947	0.4534	M	0.83483	2.645	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	D	0.83854	0.0264	10	0.87932	D	0	.	15.5222	0.75874	1.0:0.0:0.0:0.0	.	319	Q5T7P8	SYT6_HUMAN	I	234;319;234;319	ENSP00000358560:F234I;ENSP00000376974:F319I;ENSP00000358559:F234I;ENSP00000358558:F319I	ENSP00000358558:F319I	F	-	1	0	SYT6	114481756	1.000000	0.71417	1.000000	0.80357	0.551000	0.35334	9.336000	0.96533	2.076000	0.62316	0.528000	0.53228	TTT		PASS	0.552	SYT6-004	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000314819.2	NM_205848		17	25	17	25	---	---	---	---
SYCP1	6847	broad.mit.edu	37	1	115438085	115438085	+	Silent	SNP	T	T	C			TCGA-66-2766-01A-01D-1522-08	TCGA-66-2766-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	452b75d0-1818-46aa-8804-9cfc0bd66449	81a4d615-e95e-4c17-87f7-c06d8dd4975a	g.chr1:115438085T>C	ENST00000369522.3	+	16	1515	c.1275T>C	c.(1273-1275)ctT>ctC	p.L425L	SYCP1_ENST00000369518.1_Silent_p.L425L	NM_001282541.1|NM_003176.2	NP_001269470.1|NP_003167.2	Q15431	SYCP1_HUMAN	synaptonemal complex protein 1	425					chiasma assembly (GO:0051026)|lateral element assembly (GO:0051878)|meiotic DNA repair synthesis (GO:0000711)|reciprocal meiotic recombination (GO:0007131)|regulation of protein localization (GO:0032880)|sperm chromatin condensation (GO:0035092)|spermatogenesis (GO:0007283)|synaptonemal complex assembly (GO:0007130)	central element (GO:0000801)|male germ cell nucleus (GO:0001673)|transverse filament (GO:0000802)	DNA binding (GO:0003677)	p.L425L(1)	RGS22/SYCP1(2)	NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(20)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	48	Lung SC(450;0.211)	all_cancers(81;8.65e-08)|all_epithelial(167;3.32e-07)|all_lung(203;6.55e-06)|Lung NSC(69;1.11e-05)|Acute lymphoblastic leukemia(138;0.221)		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)		TGACTAAGCTTACAAATAACA	0.279																																						uc001efr.2																			1	Substitution - coding silent(1)		lung(1)	skin(1)	1						c.(1273-1275)CTT>CTC		synaptonemal complex protein 1							24.0	24.0	24.0					1																	115438085		2162	4259	6421	SO:0001819	synonymous_variant	6847				cell division|reciprocal meiotic recombination|spermatogenesis|synaptonemal complex assembly		DNA binding	g.chr1:115438085T>C	D67035	CCDS879.1, CCDS72840.1	1p13-p12	2009-03-12			ENSG00000198765	ENSG00000198765			11487	protein-coding gene	gene with protein product	"""cancer/testis antigen 8"""	602162				9560255	Standard	XM_005271154		Approved	HOM-TES-14, SCP1, CT8	uc001efr.3	Q15431	OTTHUMG00000012057	ENST00000369522.3:c.1275T>C	1.37:g.115438085T>C						SYCP1_uc010owt.1_RNA|SYCP1_uc001efq.2_Silent_p.L425L|SYCP1_uc009wgw.2_Silent_p.L425L	p.L425L	NM_003176	NP_003167	Q15431	SYCP1_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)	16	1484	+	Lung SC(450;0.211)	all_cancers(81;8.65e-08)|all_epithelial(167;3.32e-07)|all_lung(203;6.55e-06)|Lung NSC(69;1.11e-05)|Acute lymphoblastic leukemia(138;0.221)	425			Potential.		O14963|Q5VXJ6	Silent	SNP	ENST00000369522.3	37	c.1275T>C	CCDS879.1																																																																																				PASS	0.279	SYCP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033386.1	NM_003176		5	10	5	10	---	---	---	---
NUDT17	200035	broad.mit.edu	37	1	145587438	145587438	+	Silent	SNP	C	C	T			TCGA-66-2766-01A-01D-1522-08	TCGA-66-2766-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	452b75d0-1818-46aa-8804-9cfc0bd66449	81a4d615-e95e-4c17-87f7-c06d8dd4975a	g.chr1:145587438C>T	ENST00000334513.5	-	6	653	c.642G>A	c.(640-642)ctG>ctA	p.L214L	NUDT17_ENST00000444015.2_5'UTR	NM_001012758.2	NP_001012776.1	P0C025	NUD17_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 17	214	Nudix hydrolase. {ECO:0000255|PROSITE- ProRule:PRU00794}.						hydrolase activity (GO:0016787)|metal ion binding (GO:0046872)	p.L214L(1)		endometrium(3)|large_intestine(1)|lung(2)|skin(1)|urinary_tract(2)	9	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					CATCTGGTGTCAGCCACATAA	0.597																																						uc001eoe.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(640-642)CTG>CTA		nudix (nucleoside diphosphate linked moiety							103.0	103.0	103.0					1																	145587438		2203	4300	6503	SO:0001819	synonymous_variant	200035						hydrolase activity|metal ion binding	g.chr1:145587438C>T	BC046352	CCDS72865.1	1q21.1	2008-02-05			ENSG00000186364	ENSG00000186364		"""Nudix motif containing"""	26618	protein-coding gene	gene with protein product						12477932	Standard	NM_001012758		Approved	FLJ34433	uc001eoe.3	P0C025	OTTHUMG00000013752	ENST00000334513.5:c.642G>A	1.37:g.145587438C>T						NBPF10_uc001emp.3_Intron	p.L214L	NM_001012758	NP_001012776	P0C025	NUD17_HUMAN			6	650	-	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)		214			Nudix hydrolase.			Silent	SNP	ENST00000334513.5	37	c.642G>A	CCDS30830.1	.	.	.	.	.	.	.	.	.	.	C	5.845	0.340089	0.11069	.	.	ENSG00000186364	ENST00000444015	.	.	.	5.06	3.09	0.35607	.	.	.	.	.	T	0.45438	0.1342	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.38672	-0.9650	4	.	.	.	-10.8141	9.4627	0.38794	0.1625:0.6807:0.1568:0.0	.	.	.	.	N	108	.	.	D	-	1	0	NUDT17	144298795	0.934000	0.31675	0.937000	0.37676	0.553000	0.35397	1.723000	0.38053	0.642000	0.30620	0.655000	0.94253	GAC		PASS	0.597	NUDT17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000038541.3	XM_496395		94	54	94	54	---	---	---	---
HIST2H2BF	440689	broad.mit.edu	37	1	149783853	149783853	+	Missense_Mutation	SNP	G	G	A			TCGA-66-2766-01A-01D-1522-08	TCGA-66-2766-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	452b75d0-1818-46aa-8804-9cfc0bd66449	81a4d615-e95e-4c17-87f7-c06d8dd4975a	g.chr1:149783853G>A	ENST00000369167.1	-	1	61	c.26C>T	c.(25-27)cCt>cTt	p.P9L	HIST2H2BF_ENST00000469483.1_5'UTR|HIST2H2BF_ENST00000545683.1_Missense_Mutation_p.P9L|RP11-196G18.21_ENST00000420462.1_RNA|HIST2H2BF_ENST00000427880.2_Missense_Mutation_p.P9L	NM_001024599.4	NP_001019770.1	Q5QNW6	H2B2F_HUMAN	histone cluster 2, H2bf	9					chromatin organization (GO:0006325)	extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)	p.P9L(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	15	Breast(34;0.0124)|all_hematologic(923;0.127)					CTTGGGAGCAGGAGCGGATTT	0.512																																						uc001esr.2																			1	Substitution - Missense(1)		lung(1)		0						c.(25-27)CCT>CTT		histone cluster 2, H2bf isoform a							67.0	72.0	70.0					1																	149783853		2203	4298	6501	SO:0001583	missense	440689				nucleosome assembly	nucleosome|nucleus	DNA binding	g.chr1:149783853G>A	BC110793	CCDS30846.1, CCDS53359.1	1q21.2	2013-06-03	2006-10-11		ENSG00000203814	ENSG00000203814		"""Histones / Replication-dependent"""	24700	protein-coding gene	gene with protein product			"""histone 2, H2bf"""				Standard	NM_001161334		Approved		uc010pbj.2	Q5QNW6	OTTHUMG00000183159	ENST00000369167.1:c.26C>T	1.37:g.149783853G>A	ENSP00000358164:p.Pro9Leu					HIST2H2BF_uc010pbj.1_Missense_Mutation_p.P9L|HIST2H2BF_uc010pbk.1_Missense_Mutation_p.P9L	p.P9L	NM_001024599	NP_001019770	Q5QNW6	H2B2F_HUMAN			1	76	-	Breast(34;0.0124)|all_hematologic(923;0.127)		9					A8K0U9|B4DLA9	Missense_Mutation	SNP	ENST00000369167.1	37	c.26C>T	CCDS30846.1	.	.	.	.	.	.	.	.	.	.	G	15.69	2.908833	0.52439	.	.	ENSG00000203814	ENST00000545683;ENST00000427880;ENST00000369167	T;T;T	0.22539	1.95;1.95;1.95	3.56	3.56	0.40772	Histone-fold (2);	0.000000	0.48286	D	0.000197	T	0.44244	0.1284	M	0.88842	2.985	0.54753	D	0.999986	D;P;P	0.76494	0.999;0.883;0.883	D;P;P	0.75020	0.985;0.472;0.472	T	0.56269	-0.8007	10	0.87932	D	0	.	14.937	0.70964	0.0:0.0:1.0:0.0	.	9;9;9	B4DR52;B4DLA9;Q5QNW6	.;.;H2B2F_HUMAN	L	9	ENSP00000445831:P9L;ENSP00000407461:P9L;ENSP00000358164:P9L	ENSP00000358164:P9L	P	-	2	0	HIST2H2BF	148050477	1.000000	0.71417	0.995000	0.50966	0.505000	0.33919	5.931000	0.70113	2.287000	0.76781	0.195000	0.17529	CCT		PASS	0.512	HIST2H2BF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033453.2	NM_001024599		123	117	123	117	---	---	---	---
LCE3A	353142	broad.mit.edu	37	1	152595380	152595380	+	Missense_Mutation	SNP	G	G	C			TCGA-66-2766-01A-01D-1522-08	TCGA-66-2766-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	452b75d0-1818-46aa-8804-9cfc0bd66449	81a4d615-e95e-4c17-87f7-c06d8dd4975a	g.chr1:152595380G>C	ENST00000335674.1	-	1	199	c.200C>G	c.(199-201)tCc>tGc	p.S67C		NM_178431.1	NP_848518.1	Q5TA76	LCE3A_HUMAN	late cornified envelope 3A	67					keratinization (GO:0031424)			p.S67C(1)		endometrium(1)|lung(5)	6	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			CCTGTCACAGGAGTTGGAGCT	0.607																																						uc010pdt.1																			1	Substitution - Missense(1)		lung(1)		0						c.(199-201)TCC>TGC		late cornified envelope 3A							49.0	53.0	51.0					1																	152595380		2203	4300	6503	SO:0001583	missense	353142				keratinization			g.chr1:152595380G>C		CCDS1017.1	1q21.3	2008-02-05			ENSG00000185962	ENSG00000185962		"""Late cornified envelopes"""	29461	protein-coding gene	gene with protein product		612613				11698679	Standard	NM_178431		Approved	LEP13	uc010pdt.2	Q5TA76	OTTHUMG00000012397	ENST00000335674.1:c.200C>G	1.37:g.152595380G>C	ENSP00000335006:p.Ser67Cys						p.S67C	NM_178431	NP_848518	Q5TA76	LCE3A_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		1	200	-	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		67						Missense_Mutation	SNP	ENST00000335674.1	37	c.200C>G	CCDS1017.1	.	.	.	.	.	.	.	.	.	.	G	5.643	0.303309	0.10678	.	.	ENSG00000185962	ENST00000335674	T	0.03181	4.02	3.63	-1.2	0.09554	.	.	.	.	.	T	0.00875	0.0029	.	.	.	0.09310	N	1	B	0.16802	0.019	B	0.15870	0.014	T	0.47368	-0.9123	8	0.59425	D	0.04	.	2.5425	0.04730	0.1102:0.3315:0.3851:0.1731	.	67	Q5TA76	LCE3A_HUMAN	C	67	ENSP00000335006:S67C	ENSP00000335006:S67C	S	-	2	0	LCE3A	150862004	0.008000	0.16893	0.000000	0.03702	0.043000	0.13939	0.055000	0.14229	-0.014000	0.14175	0.603000	0.83216	TCC		PASS	0.607	LCE3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034517.2	NM_178431		56	56	56	56	---	---	---	---
LCE2C	353140	broad.mit.edu	37	1	152648673	152648673	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2766-01A-01D-1522-08	TCGA-66-2766-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	452b75d0-1818-46aa-8804-9cfc0bd66449	81a4d615-e95e-4c17-87f7-c06d8dd4975a	g.chr1:152648673G>T	ENST00000368783.1	+	2	237	c.182G>T	c.(181-183)gGg>gTg	p.G61V	LCE2B_ENST00000417924.2_Intron	NM_178429.2	NP_848516.1	Q5TA81	LCE2C_HUMAN	late cornified envelope 2C	61	Cys-rich.				keratinization (GO:0031424)			p.G61V(1)		endometrium(2)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(1)	13	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			CCCAGCTCTGGGGGCTGCTGC	0.662																																						uc001fah.2																			1	Substitution - Missense(1)		lung(1)		0						c.(181-183)GGG>GTG		late cornified envelope 2C							73.0	84.0	80.0					1																	152648673		2203	4300	6503	SO:0001583	missense	353140				keratinization			g.chr1:152648673G>T		CCDS1019.1	1q21.3	2008-02-05			ENSG00000187180	ENSG00000187180		"""Late cornified envelopes"""	29460	protein-coding gene	gene with protein product		612611				11698679	Standard	NM_178429		Approved	LEP11	uc001fah.4	Q5TA81	OTTHUMG00000012389	ENST00000368783.1:c.182G>T	1.37:g.152648673G>T	ENSP00000357772:p.Gly61Val						p.G61V	NM_178429	NP_848516	Q5TA81	LCE2C_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		2	237	+	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		61			Cys-rich.			Missense_Mutation	SNP	ENST00000368783.1	37	c.182G>T	CCDS1019.1	.	.	.	.	.	.	.	.	.	.	G	2.255	-0.370577	0.05069	.	.	ENSG00000187180	ENST00000368783	T	0.07021	3.23	2.76	2.76	0.32466	.	.	.	.	.	T	0.17704	0.0425	M	0.83118	2.625	0.39277	D	0.964485	D	0.76494	0.999	D	0.71656	0.974	T	0.01249	-1.1406	9	0.87932	D	0	.	9.0608	0.36433	0.0:0.0:1.0:0.0	.	61	Q5TA81	LCE2C_HUMAN	V	61	ENSP00000357772:G61V	ENSP00000357772:G61V	G	+	2	0	LCE2C	150915297	0.990000	0.36364	0.740000	0.30986	0.061000	0.15899	3.677000	0.54619	1.548000	0.49413	0.563000	0.77884	GGG		PASS	0.662	LCE2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034509.1	NM_178429		42	113	42	113	---	---	---	---
LCE1B	353132	broad.mit.edu	37	1	152784941	152784941	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2766-01A-01D-1522-08	TCGA-66-2766-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	452b75d0-1818-46aa-8804-9cfc0bd66449	81a4d615-e95e-4c17-87f7-c06d8dd4975a	g.chr1:152784941C>A	ENST00000360090.3	+	1	495	c.19C>A	c.(19-21)Cag>Aag	p.Q7K		NM_178349.1	NP_848126.1	Q5T7P3	LCE1B_HUMAN	late cornified envelope 1B	7					keratinization (GO:0031424)			p.Q7K(1)		breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(5)|skin(2)	18	Lung NSC(65;9.06e-30)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			CCAGCAGAACCAGCAGCAGTG	0.607																																						uc001faq.2																			1	Substitution - Missense(1)		lung(1)		0						c.(19-21)CAG>AAG		late cornified envelope 1B							91.0	91.0	91.0					1																	152784941		2203	4300	6503	SO:0001583	missense	353132				keratinization			g.chr1:152784941C>A	BI670515	CCDS1027.1	1q21.3	2008-02-05	2004-10-11	2004-10-15	ENSG00000196734	ENSG00000196734		"""Late cornified envelopes"""	16611	protein-coding gene	gene with protein product		612604	"""small proline rich-like (epidermal differentiation complex) 2A"""	SPRL2A		11698679	Standard	NM_178349		Approved	LEP2	uc001faq.3	Q5T7P3	OTTHUMG00000014402	ENST00000360090.3:c.19C>A	1.37:g.152784941C>A	ENSP00000353203:p.Gln7Lys						p.Q7K	NM_178349	NP_848126	Q5T7P3	LCE1B_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.171)		1	495	+	Lung NSC(65;9.06e-30)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		7					A4IF40	Missense_Mutation	SNP	ENST00000360090.3	37	c.19C>A	CCDS1027.1	.	.	.	.	.	.	.	.	.	.	C	13.07	2.128683	0.37533	.	.	ENSG00000196734	ENST00000360090;ENST00000439693	T	0.06608	3.28	4.48	4.48	0.54585	.	0.000000	0.35124	N	0.003430	T	0.16769	0.0403	M	0.85542	2.76	0.26676	N	0.971633	D	0.61080	0.989	D	0.70487	0.969	T	0.01192	-1.1423	10	0.87932	D	0	.	12.8379	0.57784	0.0:1.0:0.0:0.0	.	7	Q5T7P3	LCE1B_HUMAN	K	7	ENSP00000353203:Q7K	ENSP00000353203:Q7K	Q	+	1	0	LCE1B	151051565	0.996000	0.38824	1.000000	0.80357	0.988000	0.76386	1.875000	0.39578	2.486000	0.83907	0.650000	0.86243	CAG		PASS	0.607	LCE1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040060.1	NM_178349		20	111	20	111	---	---	---	---
LCE1B	353132	broad.mit.edu	37	1	152785258	152785258	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2766-01A-01D-1522-08	TCGA-66-2766-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	452b75d0-1818-46aa-8804-9cfc0bd66449	81a4d615-e95e-4c17-87f7-c06d8dd4975a	g.chr1:152785258G>T	ENST00000360090.3	+	1	812	c.336G>T	c.(334-336)caG>caT	p.Q112H		NM_178349.1	NP_848126.1	Q5T7P3	LCE1B_HUMAN	late cornified envelope 1B	112	Gly-rich.				keratinization (GO:0031424)			p.Q112H(1)		breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(5)|skin(2)	18	Lung NSC(65;9.06e-30)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			GGAGTGGCCAGCACTCTGGAG	0.612																																						uc001faq.2																			1	Substitution - Missense(1)		lung(1)		0						c.(334-336)CAG>CAT		late cornified envelope 1B							36.0	44.0	42.0					1																	152785258		2202	4298	6500	SO:0001583	missense	353132				keratinization			g.chr1:152785258G>T	BI670515	CCDS1027.1	1q21.3	2008-02-05	2004-10-11	2004-10-15	ENSG00000196734	ENSG00000196734		"""Late cornified envelopes"""	16611	protein-coding gene	gene with protein product		612604	"""small proline rich-like (epidermal differentiation complex) 2A"""	SPRL2A		11698679	Standard	NM_178349		Approved	LEP2	uc001faq.3	Q5T7P3	OTTHUMG00000014402	ENST00000360090.3:c.336G>T	1.37:g.152785258G>T	ENSP00000353203:p.Gln112His						p.Q112H	NM_178349	NP_848126	Q5T7P3	LCE1B_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.171)		1	812	+	Lung NSC(65;9.06e-30)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		112			Gly-rich.		A4IF40	Missense_Mutation	SNP	ENST00000360090.3	37	c.336G>T	CCDS1027.1	.	.	.	.	.	.	.	.	.	.	G	11.76	1.733724	0.30684	.	.	ENSG00000196734	ENST00000360090;ENST00000439693	T	0.03663	3.85	4.68	4.68	0.58851	.	1.494830	0.04735	N	0.421886	T	0.02688	0.0081	N	0.05078	-0.115	0.25046	N	0.991163	D	0.54207	0.965	P	0.56474	0.799	T	0.55483	-0.8134	10	0.87932	D	0	.	13.2786	0.60202	0.0:0.0:1.0:0.0	.	112	Q5T7P3	LCE1B_HUMAN	H	112;104	ENSP00000353203:Q112H	ENSP00000353203:Q112H	Q	+	3	2	LCE1B	151051882	0.884000	0.30299	1.000000	0.80357	0.877000	0.50540	2.609000	0.46317	2.592000	0.87571	0.650000	0.86243	CAG		PASS	0.612	LCE1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040060.1	NM_178349		37	31	37	31	---	---	---	---
KCNN3	3782	broad.mit.edu	37	1	154841969	154841969	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2766-01A-01D-1522-08	TCGA-66-2766-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	452b75d0-1818-46aa-8804-9cfc0bd66449	81a4d615-e95e-4c17-87f7-c06d8dd4975a	g.chr1:154841969C>T	ENST00000271915.4	-	1	787	c.472G>A	c.(472-474)Gcc>Acc	p.A158T	KCNN3_ENST00000358505.2_5'Flank	NM_001204087.1|NM_002249.5	NP_001191016.1|NP_002240.3	Q9UGI6	KCNN3_HUMAN	potassium intermediate/small conductance calcium-activated channel, subfamily N, member 3	163					potassium ion transmembrane transport (GO:0071805)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	calmodulin binding (GO:0005516)|small conductance calcium-activated potassium channel activity (GO:0016286)	p.A158T(1)		cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(11)|prostate(4)|skin(1)	28	all_lung(78;2.29e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.108)|all_neural(408;0.245)		BRCA - Breast invasive adenocarcinoma(34;0.00819)		Miconazole(DB01110)|Procaine(DB00721)	AGGGGGCTGGCCTGTCGGTGC	0.637																																						uc001ffp.2																			1	Substitution - Missense(1)		lung(1)	lung(1)	1						c.(472-474)GCC>ACC		small conductance calcium-activated potassium							29.0	32.0	31.0					1																	154841969		2203	4299	6502	SO:0001583	missense	3782					integral to membrane	calmodulin binding	g.chr1:154841969C>T	AF031815	CCDS1072.1, CCDS30880.1, CCDS72928.1	1q21.3	2012-07-05			ENSG00000143603	ENSG00000143603		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, calcium-activated"""	6292	protein-coding gene	gene with protein product		602983				9491810, 16382103	Standard	NM_002249		Approved	KCa2.3, hSK3, SKCA3	uc021pah.1	Q9UGI6	OTTHUMG00000037260	ENST00000271915.4:c.472G>A	1.37:g.154841969C>T	ENSP00000271915:p.Ala158Thr					KCNN3_uc009wox.1_Missense_Mutation_p.A158T	p.A158T	NM_002249	NP_002240	Q9UGI6	KCNN3_HUMAN	BRCA - Breast invasive adenocarcinoma(34;0.00819)		1	786	-	all_lung(78;2.29e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.108)|all_neural(408;0.245)		163					B1ANX0|O43517|Q86VF9|Q8WXG7	Missense_Mutation	SNP	ENST00000271915.4	37	c.472G>A	CCDS30880.1	.	.	.	.	.	.	.	.	.	.	C	18.47	3.632069	0.67015	.	.	ENSG00000143603	ENST00000271915	D	0.95656	-3.77	5.02	5.02	0.67125	.	0.993235	0.08168	N	0.987399	D	0.90345	0.6979	N	0.14661	0.345	0.80722	D	1	P;P	0.51791	0.948;0.9	P;B	0.48738	0.588;0.434	D	0.84831	0.0802	10	0.25751	T	0.34	-24.9002	15.8761	0.79162	0.0:1.0:0.0:0.0	.	164;163	Q6JXY2;Q9UGI6	.;KCNN3_HUMAN	T	158	ENSP00000271915:A158T	ENSP00000271915:A158T	A	-	1	0	KCNN3	153108593	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	4.129000	0.57957	2.611000	0.88343	0.563000	0.77884	GCC		PASS	0.637	KCNN3-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090688.3	NM_002249		8	20	8	20	---	---	---	---
FCRL2	79368	broad.mit.edu	37	1	157740362	157740362	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2766-01A-01D-1522-08	TCGA-66-2766-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	452b75d0-1818-46aa-8804-9cfc0bd66449	81a4d615-e95e-4c17-87f7-c06d8dd4975a	g.chr1:157740362C>T	ENST00000361516.3	-	3	195	c.147G>A	c.(145-147)atG>atA	p.M49I	FCRL2_ENST00000392274.3_Missense_Mutation_p.M49I|FCRL2_ENST00000368181.4_Missense_Mutation_p.M49I|FCRL2_ENST00000469986.1_5'Flank	NM_030764.3	NP_110391.2	Q96LA5	FCRL2_HUMAN	Fc receptor-like 2	49	Ig-like C2-type 1.				cell-cell signaling (GO:0007267)|positive regulation of signal transduction (GO:0009967)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	SH3/SH2 adaptor activity (GO:0005070)	p.M49I(1)		central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(29)|ovary(1)|pancreas(1)|prostate(3)|skin(2)	51	all_hematologic(112;0.0378)		LUSC - Lung squamous cell carcinoma(543;0.24)			TATGGTAAGCCATCTTCTGAA	0.408																																						uc001fre.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|pancreas(1)	2						c.(145-147)ATG>ATA		Fc receptor-like 2 precursor							68.0	70.0	69.0					1																	157740362		2203	4300	6503	SO:0001583	missense	79368				cell-cell signaling	integral to membrane|plasma membrane|soluble fraction	receptor activity|SH3/SH2 adaptor activity	g.chr1:157740362C>T	AF319438	CCDS1168.1	1q23.1	2013-01-14	2002-01-14	2005-03-23	ENSG00000132704	ENSG00000132704		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	14875	protein-coding gene	gene with protein product		606509	"""SH2 domain-containing phosphatase anchor protein 1"""	SPAP1		11162587	Standard	NM_030764		Approved	FCRH2, IRTA4, CD307b	uc001fre.2	Q96LA5	OTTHUMG00000019399	ENST00000361516.3:c.147G>A	1.37:g.157740362C>T	ENSP00000355157:p.Met49Ile					FCRL2_uc001frd.2_5'Flank|FCRL2_uc010phz.1_Missense_Mutation_p.M49I|FCRL2_uc009wsp.2_Missense_Mutation_p.M49I|FCRL2_uc010pia.1_Missense_Mutation_p.M49I	p.M49I	NM_030764	NP_110391	Q96LA5	FCRL2_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.24)		3	206	-	all_hematologic(112;0.0378)		49			Ig-like C2-type 1.|Extracellular (Potential).		A0N0M5|A1L307|A6NMS0|Q6NTA1|Q9BZI4|Q9BZI5|Q9BZI6	Missense_Mutation	SNP	ENST00000361516.3	37	c.147G>A	CCDS1168.1	.	.	.	.	.	.	.	.	.	.	C	8.711	0.912114	0.17907	.	.	ENSG00000132704	ENST00000292389;ENST00000361516;ENST00000368181;ENST00000392274	T;T;T	0.11930	2.73;2.73;2.73	4.33	0.235	0.15431	Immunoglobulin subtype (1);Immunoglobulin-like fold (1);	4.296080	0.00819	U	0.001565	T	0.03011	0.0089	N	0.12182	0.205	0.09310	N	1	B;B;B;B	0.24092	0.073;0.097;0.007;0.017	B;B;B;B	0.33568	0.065;0.166;0.005;0.065	T	0.43114	-0.9411	10	0.59425	D	0.04	.	4.059	0.09829	0.0:0.5248:0.1746:0.3006	.	49;49;49;49	B4E0W2;B4DVJ9;Q96LA5-5;Q96LA5	.;.;.;FCRL2_HUMAN	I	49	ENSP00000355157:M49I;ENSP00000357163:M49I;ENSP00000376100:M49I	ENSP00000292389:M49I	M	-	3	0	FCRL2	156006986	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.614000	0.05604	-0.040000	0.13580	0.650000	0.86243	ATG		PASS	0.408	FCRL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051408.2	NM_030764		55	78	55	78	---	---	---	---
OR6K3	391114	broad.mit.edu	37	1	158687140	158687140	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2766-01A-01D-1522-08	TCGA-66-2766-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	452b75d0-1818-46aa-8804-9cfc0bd66449	81a4d615-e95e-4c17-87f7-c06d8dd4975a	g.chr1:158687140G>T	ENST00000368146.1	-	1	813	c.814C>A	c.(814-816)Ctc>Atc	p.L272I	OR6K3_ENST00000368145.1_Missense_Mutation_p.L256I			Q8NGY3	OR6K3_HUMAN	olfactory receptor, family 6, subfamily K, member 3	272						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.L272I(1)|p.L272V(1)		NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(21)|ovary(1)|prostate(1)|skin(2)|stomach(1)	41	all_hematologic(112;0.0378)					AAGTACATGAGTGATACACTG	0.448																																						uc010pip.1																			2	Substitution - Missense(2)		lung(2)	ovary(1)|kidney(1)|central_nervous_system(1)	3						c.(814-816)CTC>ATC		olfactory receptor, family 6, subfamily K,							146.0	125.0	132.0					1																	158687140		2203	4300	6503	SO:0001583	missense	391114				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:158687140G>T	AB065633	CCDS30903.1, CCDS30903.2	1q23.1	2012-08-09			ENSG00000203757	ENSG00000203757		"""GPCR / Class A : Olfactory receptors"""	15030	protein-coding gene	gene with protein product							Standard	NM_001005327		Approved		uc021pbn.1	Q8NGY3	OTTHUMG00000022770	ENST00000368146.1:c.814C>A	1.37:g.158687140G>T	ENSP00000357128:p.Leu272Ile						p.L272I	NM_001005327	NP_001005327	Q8NGY3	OR6K3_HUMAN			1	814	-	all_hematologic(112;0.0378)		272			Helical; Name=6; (Potential).		Q5VUV0|Q6IFR5	Missense_Mutation	SNP	ENST00000368146.1	37	c.814C>A		.	.	.	.	.	.	.	.	.	.	G	14.13	2.442207	0.43326	.	.	ENSG00000203757	ENST00000368145;ENST00000368146	T;T	0.00123	8.7;8.7	3.77	1.88	0.25563	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.00039	0.0001	N	0.25332	0.735	0.24510	N	0.994217	B	0.26512	0.151	B	0.40940	0.344	T	0.04537	-1.0944	9	0.14656	T	0.56	.	6.6522	0.22969	0.3136:0.0:0.6864:0.0	.	272	Q8NGY3	OR6K3_HUMAN	I	256;272	ENSP00000357127:L256I;ENSP00000357128:L272I	ENSP00000357127:L256I	L	-	1	0	OR6K3	156953764	0.001000	0.12720	0.375000	0.26029	0.106000	0.19336	0.497000	0.22514	0.370000	0.24538	0.467000	0.42956	CTC		PASS	0.448	OR6K3-201	KNOWN	basic	protein_coding	protein_coding				50	94	50	94	---	---	---	---
KCNJ9	3765	broad.mit.edu	37	1	160054134	160054134	+	Missense_Mutation	SNP	A	A	G			TCGA-66-2766-01A-01D-1522-08	TCGA-66-2766-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	452b75d0-1818-46aa-8804-9cfc0bd66449	81a4d615-e95e-4c17-87f7-c06d8dd4975a	g.chr1:160054134A>G	ENST00000368088.3	+	2	556	c.314A>G	c.(313-315)aAc>aGc	p.N105S		NM_004983.2	NP_004974.2	Q92806	KCNJ9_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 9	105					synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein activated inward rectifier potassium channel activity (GO:0015467)	p.N105S(1)		biliary_tract(1)|endometrium(3)|large_intestine(3)|liver(1)|lung(5)|ovary(1)|skin(2)	16	all_cancers(52;5.86e-16)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			AACAACCTCAACGGCTTCGTG	0.667																																						uc001fuy.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(313-315)AAC>AGC		potassium inwardly-rectifying channel subfamily							51.0	45.0	47.0					1																	160054134		2203	4299	6502	SO:0001583	missense	3765				synaptic transmission	integral to membrane|plasma membrane	G-protein activated inward rectifier potassium channel activity|protein binding	g.chr1:160054134A>G	U52152	CCDS1194.1	1q23.2	2011-07-05			ENSG00000162728	ENSG00000162728		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Inwardly rectifying"""	6270	protein-coding gene	gene with protein product		600932				8575783, 16382105	Standard	NM_004983		Approved	Kir3.3, GIRK3	uc001fuy.1	Q92806	OTTHUMG00000024072	ENST00000368088.3:c.314A>G	1.37:g.160054134A>G	ENSP00000357067:p.Asn105Ser						p.N105S	NM_004983	NP_004974	Q92806	IRK9_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.111)		2	556	+	all_cancers(52;5.86e-16)|all_hematologic(112;0.093)		105			Extracellular (By similarity).		Q5JW75	Missense_Mutation	SNP	ENST00000368088.3	37	c.314A>G	CCDS1194.1	.	.	.	.	.	.	.	.	.	.	A	13.96	2.393592	0.42410	.	.	ENSG00000162728	ENST00000368088	D	0.95724	-3.79	4.71	4.71	0.59529	Potassium channel, inwardly rectifying, Kir, conserved region 2 (1);	0.000000	0.85682	D	0.000000	D	0.89863	0.6838	M	0.64676	1.99	0.50813	D	0.999892	B	0.10296	0.003	B	0.11329	0.006	D	0.87222	0.2254	10	0.18710	T	0.47	.	13.17	0.59593	1.0:0.0:0.0:0.0	.	105	Q92806	IRK9_HUMAN	S	105	ENSP00000357067:N105S	ENSP00000357067:N105S	N	+	2	0	KCNJ9	158320758	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	5.150000	0.64869	1.747000	0.51819	0.352000	0.21897	AAC		PASS	0.667	KCNJ9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060628.1	NM_004983		13	38	13	38	---	---	---	---
IGSF8	93185	broad.mit.edu	37	1	160061685	160061685	+	Silent	SNP	C	C	A			TCGA-66-2766-01A-01D-1522-08	TCGA-66-2766-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	452b75d0-1818-46aa-8804-9cfc0bd66449	81a4d615-e95e-4c17-87f7-c06d8dd4975a	g.chr1:160061685C>A	ENST00000368086.1	-	6	1986	c.1770G>T	c.(1768-1770)gtG>gtT	p.V590V	IGSF8_ENST00000460351.1_5'Flank|IGSF8_ENST00000314485.7_Silent_p.V590V			Q969P0	IGSF8_HUMAN	immunoglobulin superfamily, member 8	590					cell proliferation (GO:0008283)|cellular component movement (GO:0006928)|nervous system development (GO:0007399)|single fertilization (GO:0007338)|skeletal muscle tissue development (GO:0007519)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)		p.V590V(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(19)|pancreas(1)|prostate(1)|skin(1)	33	all_cancers(52;1.11e-16)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)|LUSC - Lung squamous cell carcinoma(543;0.246)			TGACTAGGGCCACCCCTGTAC	0.552																																						uc001fva.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(1768-1770)GTG>GTT		immunoglobulin superfamily, member 8							108.0	94.0	99.0					1																	160061685		2203	4300	6503	SO:0001819	synonymous_variant	93185				cell proliferation|cellular component movement|nervous system development|single fertilization|skeletal muscle tissue development	integral to membrane	protein binding	g.chr1:160061685C>A	AF407274	CCDS1195.1	1q23.1	2013-01-11			ENSG00000162729	ENSG00000162729		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"""	17813	protein-coding gene	gene with protein product		606644				11504738, 11673522	Standard	NM_001206665		Approved	CD81P3, EWI2, PGRL, CD316	uc009wtf.3	Q969P0	OTTHUMG00000024075	ENST00000368086.1:c.1770G>T	1.37:g.160061685C>A						IGSF8_uc001fuz.2_Silent_p.V590V|IGSF8_uc009wtf.2_Silent_p.V590V	p.V590V	NM_052868	NP_443100	Q969P0	IGSF8_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.111)|LUSC - Lung squamous cell carcinoma(543;0.246)		6	1815	-	all_cancers(52;1.11e-16)|all_hematologic(112;0.093)		590			Helical; (Potential).		Q8NG09|Q96DP4|Q9BTG9	Silent	SNP	ENST00000368086.1	37	c.1770G>T	CCDS1195.1																																																																																				PASS	0.552	IGSF8-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060636.1	NM_052868		57	53	57	53	---	---	---	---
ADAMTS4	9507	broad.mit.edu	37	1	161167800	161167800	+	Silent	SNP	T	T	C			TCGA-66-2766-01A-01D-1522-08	TCGA-66-2766-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	452b75d0-1818-46aa-8804-9cfc0bd66449	81a4d615-e95e-4c17-87f7-c06d8dd4975a	g.chr1:161167800T>C	ENST00000367996.5	-	1	1046	c.618A>G	c.(616-618)agA>agG	p.R206R	ADAMTS4_ENST00000478394.1_5'Flank|ADAMTS4_ENST00000367995.3_Silent_p.R206R|NDUFS2_ENST00000367993.3_5'Flank	NM_005099.4	NP_005090.3	O75173	ATS4_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 4	206					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.R206R(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)	CTCTTCGGGGTCTGGGGCTGG	0.622																																						uc001fyt.3																			2	Substitution - coding silent(2)		lung(2)	ovary(4)|central_nervous_system(1)	5						c.(616-618)AGA>AGG		ADAM metallopeptidase with thrombospondin type 1							51.0	54.0	53.0					1																	161167800		2203	4300	6503	SO:0001819	synonymous_variant	9507				proteolysis|skeletal system development	extracellular space|proteinaceous extracellular matrix	metalloendopeptidase activity|protease binding|zinc ion binding	g.chr1:161167800T>C	AB014588	CCDS1223.1	1q31-q32	2008-02-05	2005-08-19		ENSG00000158859	ENSG00000158859		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	220	protein-coding gene	gene with protein product		603876	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 4"""			10094461	Standard	NM_005099		Approved	KIAA0688, ADAMTS-2, ADMP-1	uc001fyt.4	O75173	OTTHUMG00000034349	ENST00000367996.5:c.618A>G	1.37:g.161167800T>C						ADAMTS4_uc001fyu.2_Silent_p.R206R|NDUFS2_uc001fyv.2_5'Flank	p.R206R	NM_005099	NP_005090	O75173	ATS4_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.00275)		1	1046	-	all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		206					Q5VTW2|Q6P4Q8|Q6UWA8|Q9UN83	Silent	SNP	ENST00000367996.5	37	c.618A>G	CCDS1223.1																																																																																				PASS	0.622	ADAMTS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083066.2	NM_005099		41	44	41	44	---	---	---	---
GPA33	10223	broad.mit.edu	37	1	167059522	167059522	+	Start_Codon_SNP	SNP	C	C	A			TCGA-66-2766-01A-01D-1522-08	TCGA-66-2766-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	452b75d0-1818-46aa-8804-9cfc0bd66449	81a4d615-e95e-4c17-87f7-c06d8dd4975a	g.chr1:167059522C>A	ENST00000367868.3	-	1	346	c.3G>T	c.(1-3)atG>atT	p.M1I		NM_005814.1	NP_005805.1	Q99795	GPA33_HUMAN	glycoprotein A33 (transmembrane)	1						extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	receptor activity (GO:0004872)	p.M1I(1)		endometrium(4)|large_intestine(1)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	15						TCTTCCCCACCATGGTCTTGC	0.577																																						uc001gea.1																			1	Substitution - Missense(1)		lung(1)		0						c.(1-3)ATG>ATT		transmembrane glycoprotein A33 precursor							261.0	178.0	206.0					1																	167059522		2203	4300	6503	SO:0001582	initiator_codon_variant	10223					integral to plasma membrane	receptor activity	g.chr1:167059522C>A	U79725	CCDS1258.1	1q24.1	2013-01-29			ENSG00000143167	ENSG00000143167		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	4445	protein-coding gene	gene with protein product		602171				9012807, 9245713	Standard	NM_005814		Approved	A33	uc001gea.1	Q99795	OTTHUMG00000034435	ENST00000367868.3:c.3G>T	1.37:g.167059522C>A	ENSP00000356842:p.Met1Ile						p.M1I	NM_005814	NP_005805	Q99795	GPA33_HUMAN			1	347	-			1					Q5VZP6	Missense_Mutation	SNP	ENST00000367868.3	37	c.3G>T	CCDS1258.1	.	.	.	.	.	.	.	.	.	.	C	1.533	-0.543827	0.04053	.	.	ENSG00000143167	ENST00000367868	T	0.74737	-0.87	4.65	2.73	0.32206	.	0.511754	0.19855	N	0.104559	T	0.43942	0.1270	.	.	.	0.19300	N	0.999972	B	0.25667	0.131	B	0.18871	0.023	T	0.42699	-0.9436	9	0.87932	D	0	.	7.6085	0.28115	0.1889:0.6289:0.1821:0.0	.	1	Q99795	GPA33_HUMAN	I	1	ENSP00000356842:M1I	ENSP00000356842:M1I	M	-	3	0	GPA33	165326146	0.144000	0.22641	0.007000	0.13788	0.168000	0.22595	1.665000	0.37449	0.555000	0.29079	-0.181000	0.13052	ATG		PASS	0.577	GPA33-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083245.1	NM_005814	Missense_Mutation	13	15	13	15	---	---	---	---
PAPPA2	60676	broad.mit.edu	37	1	176564468	176564468	+	Silent	SNP	C	C	A			TCGA-66-2766-01A-01D-1522-08	TCGA-66-2766-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	452b75d0-1818-46aa-8804-9cfc0bd66449	81a4d615-e95e-4c17-87f7-c06d8dd4975a	g.chr1:176564468C>A	ENST00000367662.3	+	3	2892	c.1728C>A	c.(1726-1728)acC>acA	p.T576T	PAPPA2_ENST00000367661.3_Silent_p.T576T	NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	576	Metalloprotease.				bone morphogenesis (GO:0060349)|cell differentiation (GO:0030154)|cellular protein metabolic process (GO:0044267)|proteolysis (GO:0006508)|regulation of cell growth (GO:0001558)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|membrane (GO:0016020)	metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.T576T(2)		NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						ACAATTCCACCCTGCGACACC	0.577																																						uc001gkz.2																			2	Substitution - coding silent(2)		lung(2)	ovary(7)|central_nervous_system(5)|skin(2)|lung(1)|breast(1)	16						c.(1726-1728)ACC>ACA		pappalysin 2 isoform 1							98.0	100.0	100.0					1																	176564468		2117	4241	6358	SO:0001819	synonymous_variant	60676				cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding	g.chr1:176564468C>A	BG354569	CCDS41438.1, CCDS41439.1	1q23-q25	2008-05-23	2004-07-07	2004-07-09	ENSG00000116183	ENSG00000116183			14615	protein-coding gene	gene with protein product			"""placenta-specific 3"""	PLAC3		11018262, 11264294	Standard	NM_021936		Approved	PAPPE, PAPP-A2	uc001gkz.3	Q9BXP8	OTTHUMG00000035025	ENST00000367662.3:c.1728C>A	1.37:g.176564468C>A						PAPPA2_uc001gky.1_Silent_p.T576T|PAPPA2_uc009www.2_RNA	p.T576T	NM_020318	NP_064714	Q9BXP8	PAPP2_HUMAN			3	2892	+			576			Metalloprotease.		A9Z1Y8|Q96PH7|Q96PH8|Q9H4C9	Silent	SNP	ENST00000367662.3	37	c.1728C>A	CCDS41438.1																																																																																				PASS	0.577	PAPPA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084763.1			34	98	34	98	---	---	---	---
PAPPA2	60676	broad.mit.edu	37	1	176758968	176758968	+	Missense_Mutation	SNP	T	T	A			TCGA-66-2766-01A-01D-1522-08	TCGA-66-2766-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	452b75d0-1818-46aa-8804-9cfc0bd66449	81a4d615-e95e-4c17-87f7-c06d8dd4975a	g.chr1:176758968T>A	ENST00000367662.3	+	18	5903	c.4739T>A	c.(4738-4740)cTg>cAg	p.L1580Q		NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	1580	Sushi 3. {ECO:0000255|PROSITE- ProRule:PRU00302}.				bone morphogenesis (GO:0060349)|cell differentiation (GO:0030154)|cellular protein metabolic process (GO:0044267)|proteolysis (GO:0006508)|regulation of cell growth (GO:0001558)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|membrane (GO:0016020)	metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.L1580Q(1)		NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						ATACAATGCCTGGAAGGTGGA	0.448																																						uc001gkz.2																			1	Substitution - Missense(1)		lung(1)	ovary(7)|central_nervous_system(5)|skin(2)|lung(1)|breast(1)	16						c.(4738-4740)CTG>CAG		pappalysin 2 isoform 1							81.0	80.0	80.0					1																	176758968		1923	4128	6051	SO:0001583	missense	60676				cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding	g.chr1:176758968T>A	BG354569	CCDS41438.1, CCDS41439.1	1q23-q25	2008-05-23	2004-07-07	2004-07-09	ENSG00000116183	ENSG00000116183			14615	protein-coding gene	gene with protein product			"""placenta-specific 3"""	PLAC3		11018262, 11264294	Standard	NM_021936		Approved	PAPPE, PAPP-A2	uc001gkz.3	Q9BXP8	OTTHUMG00000035025	ENST00000367662.3:c.4739T>A	1.37:g.176758968T>A	ENSP00000356634:p.Leu1580Gln					PAPPA2_uc009www.2_RNA	p.L1580Q	NM_020318	NP_064714	Q9BXP8	PAPP2_HUMAN			18	5903	+			1580			Sushi 3.		A9Z1Y8|Q96PH7|Q96PH8|Q9H4C9	Missense_Mutation	SNP	ENST00000367662.3	37	c.4739T>A	CCDS41438.1	.	.	.	.	.	.	.	.	.	.	T	21.0	4.075034	0.76415	.	.	ENSG00000116183	ENST00000367662	T	0.62639	0.01	5.64	5.64	0.86602	Complement control module (2);Sushi/SCR/CCP (3);	0.000000	0.64402	D	0.000001	T	0.74230	0.3689	M	0.68952	2.095	0.80722	D	1	D	0.61697	0.99	P	0.62014	0.897	T	0.75241	-0.3387	10	0.46703	T	0.11	-11.6508	13.3979	0.60865	0.0:0.0:0.0:1.0	.	1580	Q9BXP8	PAPP2_HUMAN	Q	1580	ENSP00000356634:L1580Q	ENSP00000356634:L1580Q	L	+	2	0	PAPPA2	175025591	1.000000	0.71417	1.000000	0.80357	0.925000	0.55904	3.933000	0.56545	2.142000	0.66516	0.528000	0.53228	CTG		PASS	0.448	PAPPA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084763.1			40	30	40	30	---	---	---	---
CACNA1E	777	broad.mit.edu	37	1	181767820	181767820	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2766-01A-01D-1522-08	TCGA-66-2766-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	452b75d0-1818-46aa-8804-9cfc0bd66449	81a4d615-e95e-4c17-87f7-c06d8dd4975a	g.chr1:181767820C>A	ENST00000367573.2	+	48	6792	c.6792C>A	c.(6790-6792)aaC>aaA	p.N2264K	CACNA1E_ENST00000367570.1_Missense_Mutation_p.N2221K|CACNA1E_ENST00000358338.5_Missense_Mutation_p.N2153K|CACNA1E_ENST00000526775.1_Missense_Mutation_p.N2202K|CACNA1E_ENST00000357570.5_Missense_Mutation_p.N2215K|CACNA1E_ENST00000360108.3_Missense_Mutation_p.N2245K|CACNA1E_ENST00000367567.4_Missense_Mutation_p.N1828K	NM_001205293.1	NP_001192222.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	2264					calcium ion import (GO:0070509)|energy reserve metabolic process (GO:0006112)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transport (GO:0006810)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	calcium ion binding (GO:0005509)|high voltage-gated calcium channel activity (GO:0008331)|voltage-gated calcium channel activity (GO:0005245)	p.N2264K(1)|p.N2221K(1)		NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						GCCGTTCCAACACCATCGGCT	0.662																																						uc001gow.2																			2	Substitution - Missense(2)		lung(2)	ovary(3)|central_nervous_system(2)|pancreas(1)	6						c.(6661-6663)AAC>AAA		calcium channel, voltage-dependent, R type,							18.0	22.0	20.0					1																	181767820		2053	4198	6251	SO:0001583	missense	777				energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity	g.chr1:181767820C>A	AK096563	CCDS53443.1, CCDS55664.1, CCDS55665.1	1q25.3	2013-01-10	2007-02-16		ENSG00000198216	ENSG00000198216		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"", ""EF-hand domain containing"""	1392	protein-coding gene	gene with protein product		601013		CACNL1A6		8388125, 16382099	Standard	NM_001205293		Approved	Cav2.3, BII, CACH6	uc009wxt.3	Q15878	OTTHUMG00000037301	ENST00000367573.2:c.6792C>A	1.37:g.181767820C>A	ENSP00000356545:p.Asn2264Lys					CACNA1E_uc009wxs.2_Missense_Mutation_p.N2109K|CACNA1E_uc009wxt.2_Missense_Mutation_p.N1490K	p.N2221K	NM_000721	NP_000712	Q15878	CAC1E_HUMAN			47	6828	+			2264			Cytoplasmic (Potential).		B1AM12|B1AM13|B1AM14|Q14580|Q14581	Missense_Mutation	SNP	ENST00000367573.2	37	c.6663C>A	CCDS55664.1	.	.	.	.	.	.	.	.	.	.	C	18.52	3.642402	0.67244	.	.	ENSG00000198216	ENST00000367570;ENST00000526775;ENST00000357570;ENST00000358338;ENST00000367567;ENST00000360108;ENST00000367573	D;D;D;D;D;D;D	0.96200	-3.87;-3.87;-3.84;-3.87;-3.94;-3.85;-3.84	5.55	3.67	0.42095	.	0.167520	0.51477	D	0.000094	D	0.95127	0.8421	L	0.36672	1.1	0.54753	D	0.999984	D;P	0.71674	0.998;0.932	D;P	0.63488	0.915;0.655	D	0.93570	0.6903	10	0.44086	T	0.13	.	11.0526	0.47898	0.0:0.8472:0.0:0.1528	.	2202;2221	Q15878-2;Q15878-3	.;.	K	2221;2202;2215;2153;1828;2245;2264	ENSP00000356542:N2221K;ENSP00000434814:N2202K;ENSP00000350183:N2215K;ENSP00000351101:N2153K;ENSP00000356539:N1828K;ENSP00000353222:N2245K;ENSP00000356545:N2264K	ENSP00000350183:N2215K	N	+	3	2	CACNA1E	180034443	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	1.042000	0.30303	0.701000	0.31803	-0.259000	0.10710	AAC		PASS	0.662	CACNA1E-003	KNOWN	non_canonical_U12|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000090793.2	NM_000721		5	5	5	5	---	---	---	---
SWT1	54823	broad.mit.edu	37	1	185240491	185240491	+	Missense_Mutation	SNP	G	G	C			TCGA-66-2766-01A-01D-1522-08	TCGA-66-2766-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	452b75d0-1818-46aa-8804-9cfc0bd66449	81a4d615-e95e-4c17-87f7-c06d8dd4975a	g.chr1:185240491G>C	ENST00000367500.4	+	17	2643	c.2478G>C	c.(2476-2478)gaG>gaC	p.E826D	SWT1_ENST00000367501.3_Missense_Mutation_p.E826D	NM_017673.6	NP_060143.4	Q5T5J6	SWT1_HUMAN	SWT1 RNA endoribonuclease homolog (S. cerevisiae)	826								p.E826D(1)		breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(16)|ovary(1)|prostate(1)|urinary_tract(1)	41						AAGATGTTGAGACCCTCTATA	0.274																																						uc001grg.3																			1	Substitution - Missense(1)		lung(1)		0						c.(2476-2478)GAG>GAC		hypothetical protein LOC54823							41.0	42.0	42.0					1																	185240491		2191	4286	6477	SO:0001583	missense	54823							g.chr1:185240491G>C	AF288392	CCDS1367.1	1q25	2013-08-29	2011-01-24	2011-01-24	ENSG00000116668	ENSG00000116668			16785	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 26"""	C1orf26		11318611, 19127978, 23768067	Standard	NM_017673		Approved	FLJ20121, HsSwt1	uc001grg.4	Q5T5J6	OTTHUMG00000035390	ENST00000367500.4:c.2478G>C	1.37:g.185240491G>C	ENSP00000356470:p.Glu826Asp					C1orf26_uc001grh.3_Missense_Mutation_p.E826D	p.E826D	NM_001105518	NP_001098988	Q5T5J6	SWT1_HUMAN			17	2592	+			826					Q8NEK9|Q9BZQ7|Q9NXQ0	Missense_Mutation	SNP	ENST00000367500.4	37	c.2478G>C	CCDS1367.1	.	.	.	.	.	.	.	.	.	.	G	17.80	3.477301	0.63849	.	.	ENSG00000116668	ENST00000367501;ENST00000367500	T;T	0.54071	0.59;0.59	5.87	3.02	0.34903	.	0.245697	0.41194	D	0.000931	T	0.52125	0.1715	L	0.27053	0.805	0.27602	N	0.94894	D	0.76494	0.999	D	0.66351	0.943	T	0.42241	-0.9463	10	0.28530	T	0.3	.	8.2329	0.31608	0.247:0.0:0.753:0.0	.	826	Q5T5J6	SWT1_HUMAN	D	826	ENSP00000356471:E826D;ENSP00000356470:E826D	ENSP00000356470:E826D	E	+	3	2	SWT1	183507114	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.524000	0.45589	0.402000	0.25451	-0.142000	0.14014	GAG		PASS	0.274	SWT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085790.1	NM_017673		22	102	22	102	---	---	---	---
BRINP3	339479	broad.mit.edu	37	1	190250787	190250787	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2766-01A-01D-1522-08	TCGA-66-2766-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	452b75d0-1818-46aa-8804-9cfc0bd66449	81a4d615-e95e-4c17-87f7-c06d8dd4975a	g.chr1:190250787G>T	ENST00000367462.3	-	3	561	c.330C>A	c.(328-330)aaC>aaA	p.N110K	BRINP3_ENST00000534846.1_Intron|RP11-547I7.1_ENST00000452178.1_RNA	NM_199051.1	NP_950252.1	Q76B58	BRNP3_HUMAN	bone morphogenetic protein/retinoic acid inducible neural-specific 3	110	MACPF.				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.N110K(1)									AAAGTCTTATGTTGCGGAAGA	0.448																																						uc001gse.1																			1	Substitution - Missense(1)		lung(1)	lung(2)|ovary(1)|kidney(1)|skin(1)	5						c.(328-330)AAC>AAA		family with sequence similarity 5, member C							91.0	86.0	87.0					1																	190250787		2203	4300	6503	SO:0001583	missense	339479					extracellular region		g.chr1:190250787G>T	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.330C>A	1.37:g.190250787G>T	ENSP00000356432:p.Asn110Lys					FAM5C_uc010pot.1_Intron	p.N110K	NM_199051	NP_950252	Q76B58	FAM5C_HUMAN			3	562	-	Prostate(682;0.198)		110					B3KVP1|B7Z260|O95726|Q2M330	Missense_Mutation	SNP	ENST00000367462.3	37	c.330C>A	CCDS1373.1	.	.	.	.	.	.	.	.	.	.	G	19.75	3.886188	0.72410	.	.	ENSG00000162670	ENST00000367462	D	0.83506	-1.73	5.67	3.43	0.39272	Membrane attack complex component/perforin (MACPF) domain (2);	0.000000	0.85682	D	0.000000	T	0.75332	0.3835	L	0.51422	1.61	0.80722	D	1	P	0.37914	0.611	B	0.31495	0.131	T	0.76900	-0.2788	10	0.56958	D	0.05	.	11.3257	0.49448	0.1776:0.0:0.8224:0.0	.	110	Q76B58	FAM5C_HUMAN	K	110	ENSP00000356432:N110K	ENSP00000356432:N110K	N	-	3	2	FAM5C	188517410	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.415000	0.44635	1.368000	0.46115	0.585000	0.79938	AAC		PASS	0.448	BRINP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086278.1	NM_199051		65	85	65	85	---	---	---	---
KIF21B	23046	broad.mit.edu	37	1	200959153	200959153	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2766-01A-01D-1522-08	TCGA-66-2766-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	452b75d0-1818-46aa-8804-9cfc0bd66449	81a4d615-e95e-4c17-87f7-c06d8dd4975a	g.chr1:200959153C>A	ENST00000422435.2	-	21	3365	c.3049G>T	c.(3049-3051)Gac>Tac	p.D1017Y	KIF21B_ENST00000360529.5_Missense_Mutation_p.D1017Y|KIF21B_ENST00000332129.2_Missense_Mutation_p.D1017Y|KIF21B_ENST00000461742.2_Missense_Mutation_p.D1017Y	NM_001252100.1	NP_001239029.1	O75037	KI21B_HUMAN	kinesin family member 21B	1017					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.D1017Y(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						ACGGATGTGTCTGTGGAGTCC	0.642																																						uc001gvs.1																			1	Substitution - Missense(1)		lung(1)	ovary(3)|skin(3)	6						c.(3049-3051)GAC>TAC		kinesin family member 21B							67.0	63.0	64.0					1																	200959153		2203	4300	6503	SO:0001583	missense	23046				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr1:200959153C>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.3049G>T	1.37:g.200959153C>A	ENSP00000411831:p.Asp1017Tyr					KIF21B_uc001gvr.1_Missense_Mutation_p.D1017Y|KIF21B_uc009wzl.1_Missense_Mutation_p.D1017Y|KIF21B_uc010ppn.1_Missense_Mutation_p.D1017Y	p.D1017Y	NM_017596	NP_060066	O75037	KI21B_HUMAN			21	3366	-			1017					B2RP62|B7ZMI0|Q5T4J3	Missense_Mutation	SNP	ENST00000422435.2	37	c.3049G>T	CCDS58056.1	.	.	.	.	.	.	.	.	.	.	C	16.85	3.236593	0.58886	.	.	ENSG00000116852	ENST00000332129;ENST00000360529;ENST00000461742;ENST00000422435;ENST00000539858	D;D;D;D	0.90261	-2.64;-2.64;-2.64;-2.64	4.92	4.92	0.64577	Prefoldin (1);	0.000000	0.85682	D	0.000000	D	0.94506	0.8231	M	0.64170	1.965	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.997;0.998;0.997;0.999	D	0.94661	0.7848	10	0.54805	T	0.06	.	18.1472	0.89661	0.0:1.0:0.0:0.0	.	1017;1017;1017;1017	B7ZMI0;B2RP62;O75037;O75037-2	.;.;KI21B_HUMAN;.	Y	1017	ENSP00000328494:D1017Y;ENSP00000353724:D1017Y;ENSP00000433808:D1017Y;ENSP00000411831:D1017Y	ENSP00000328494:D1017Y	D	-	1	0	KIF21B	199225776	0.995000	0.38212	0.576000	0.28549	0.467000	0.32768	3.278000	0.51662	2.280000	0.76307	0.655000	0.94253	GAC		PASS	0.642	KIF21B-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000382635.1	XM_371332		21	58	21	58	---	---	---	---
IPO9	55705	broad.mit.edu	37	1	201839746	201839746	+	Silent	SNP	G	G	A			TCGA-66-2766-01A-01D-1522-08	TCGA-66-2766-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	452b75d0-1818-46aa-8804-9cfc0bd66449	81a4d615-e95e-4c17-87f7-c06d8dd4975a	g.chr1:201839746G>A	ENST00000361565.4	+	18	2238	c.2169G>A	c.(2167-2169)gtG>gtA	p.V723V		NM_018085.4	NP_060555.2	Q96P70	IPO9_HUMAN	importin 9	723					protein import into nucleus (GO:0006606)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	histone binding (GO:0042393)|protein transporter activity (GO:0008565)	p.V723V(1)		cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(16)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	38						ATGTGTCAGTGACCCTGGAAC	0.582																																						uc001gwz.2																			1	Substitution - coding silent(1)		lung(1)	ovary(2)	2						c.(2167-2169)GTG>GTA		importin 9							78.0	65.0	69.0					1																	201839746		2203	4300	6503	SO:0001819	synonymous_variant	55705				protein import into nucleus	cytoplasm|nucleus	histone binding|protein transporter activity	g.chr1:201839746G>A	AF410465	CCDS1415.1	1q31.3	2008-02-05			ENSG00000198700	ENSG00000198700		"""Importins"""	19425	protein-coding gene	gene with protein product						11823430, 10574461	Standard	NM_018085		Approved	Imp9, FLJ10402	uc001gwz.3	Q96P70	OTTHUMG00000035805	ENST00000361565.4:c.2169G>A	1.37:g.201839746G>A							p.V723V	NM_018085	NP_060555	Q96P70	IPO9_HUMAN			18	2219	+			723					B1ASV5|Q8N1Y1|Q8N3I2|Q8NCG9|Q96SU6|Q9NW01|Q9P0A8|Q9ULM8	Silent	SNP	ENST00000361565.4	37	c.2169G>A	CCDS1415.1																																																																																				PASS	0.582	IPO9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087088.1	NM_018085		37	71	37	71	---	---	---	---
ELF3	1999	broad.mit.edu	37	1	201980363	201980363	+	Silent	SNP	C	C	T			TCGA-66-2766-01A-01D-1522-08	TCGA-66-2766-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	452b75d0-1818-46aa-8804-9cfc0bd66449	81a4d615-e95e-4c17-87f7-c06d8dd4975a	g.chr1:201980363C>T	ENST00000359651.3	+	1	3291	c.99C>T	c.(97-99)gcC>gcT	p.A33A	ELF3_ENST00000367283.3_Silent_p.A33A|ELF3_ENST00000367284.5_Silent_p.A33A|ELF3_ENST00000495848.1_3'UTR|RP11-465N4.4_ENST00000419190.1_RNA|RP11-510N19.5_ENST00000504773.1_RNA					E74-like factor 3 (ets domain transcription factor, epithelial-specific )									p.A33A(2)		breast(2)|endometrium(2)|large_intestine(6)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	20						CCCCTGCTGCCACCTTTGGGG	0.577																																						uc001gxg.3																			2	Substitution - coding silent(2)		lung(2)		0						c.(97-99)GCC>GCT		E74-like factor 3 (ets domain transcription							110.0	105.0	107.0					1																	201980363		2203	4300	6503	SO:0001819	synonymous_variant	1999				epidermis development|epithelial cell differentiation|inflammatory response|mammary gland involution|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	Golgi apparatus|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity	g.chr1:201980363C>T	AF016295	CCDS1419.1	1q32.2	2008-02-05			ENSG00000163435	ENSG00000163435			3318	protein-coding gene	gene with protein product		602191		ESX		9395241, 9129154	Standard	NM_001114309		Approved	EPR-1, ESE-1, ERT	uc001gxh.4	P78545	OTTHUMG00000035867	ENST00000359651.3:c.99C>T	1.37:g.201980363C>T						ELF3_uc001gxi.3_Silent_p.A33A|ELF3_uc001gxh.3_Silent_p.A33A	p.A33A	NM_004433	NP_004424	P78545	ELF3_HUMAN			1	3291	+			33						Silent	SNP	ENST00000359651.3	37	c.99C>T	CCDS1419.1																																																																																				PASS	0.577	ELF3-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087360.1	NM_004433		119	102	119	102	---	---	---	---
SPATA17	128153	broad.mit.edu	37	1	217947719	217947719	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2766-01A-01D-1522-08	TCGA-66-2766-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	452b75d0-1818-46aa-8804-9cfc0bd66449	81a4d615-e95e-4c17-87f7-c06d8dd4975a	g.chr1:217947719C>T	ENST00000366933.4	+	7	618	c.563C>T	c.(562-564)cCa>cTa	p.P188L		NM_138796.2	NP_620151.1	Q96L03	SPT17_HUMAN	spermatogenesis associated 17	188						cytoplasm (GO:0005737)		p.P188L(1)		endometrium(1)|kidney(1)|large_intestine(9)|lung(6)|pancreas(2)|prostate(1)|urinary_tract(1)	21				OV - Ovarian serous cystadenocarcinoma(81;0.0516)|all cancers(67;0.0891)|GBM - Glioblastoma multiforme(131;0.117)		GAGCCTGATCCATGGGAGCTG	0.383																																						uc001hlh.1																			1	Substitution - Missense(1)		lung(1)	pancreas(1)	1						c.(562-564)CCA>CTA		spermatogenesis associated 17							94.0	91.0	92.0					1																	217947719		2203	4300	6503	SO:0001583	missense	128153					cytoplasm	calmodulin binding	g.chr1:217947719C>T	AK098591	CCDS1519.1	1q41	2008-02-05			ENSG00000162814	ENSG00000162814			25184	protein-coding gene	gene with protein product	"""IQ motif containing H"""	611032				16395525	Standard	NM_138796		Approved	IQCH	uc001hlh.1	Q96L03	OTTHUMG00000037875	ENST00000366933.4:c.563C>T	1.37:g.217947719C>T	ENSP00000355900:p.Pro188Leu					SPATA17_uc009xdr.1_RNA|SPATA17_uc001hli.2_Missense_Mutation_p.P188L	p.P188L	NM_138796	NP_620151	Q96L03	SPT17_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0516)|all cancers(67;0.0891)|GBM - Glioblastoma multiforme(131;0.117)	7	589	+			188					A5D6N2	Missense_Mutation	SNP	ENST00000366933.4	37	c.563C>T	CCDS1519.1	.	.	.	.	.	.	.	.	.	.	C	20.1	3.936679	0.73442	.	.	ENSG00000162814	ENST00000366933	T	0.45276	0.9	5.45	5.45	0.79879	.	0.120249	0.56097	D	0.000024	T	0.60932	0.2307	M	0.72479	2.2	0.46458	D	0.999059	D	0.61697	0.99	P	0.56343	0.796	T	0.63655	-0.6588	10	0.66056	D	0.02	-13.4192	19.6374	0.95740	0.0:1.0:0.0:0.0	.	188	Q96L03	SPT17_HUMAN	L	188	ENSP00000355900:P188L	ENSP00000355900:P188L	P	+	2	0	SPATA17	216014342	0.993000	0.37304	0.558000	0.28319	0.643000	0.38383	3.816000	0.55658	2.711000	0.92665	0.563000	0.77884	CCA		PASS	0.383	SPATA17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092433.2	NM_138796		81	81	81	81	---	---	---	---
EPRS	2058	broad.mit.edu	37	1	220152953	220152953	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2766-01A-01D-1522-08	TCGA-66-2766-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	452b75d0-1818-46aa-8804-9cfc0bd66449	81a4d615-e95e-4c17-87f7-c06d8dd4975a	g.chr1:220152953C>G	ENST00000366923.3	-	27	3985	c.3716G>C	c.(3715-3717)gGa>gCa	p.G1239A		NM_004446.2	NP_004437.2	P07814	SYEP_HUMAN	glutamyl-prolyl-tRNA synthetase	1239	Proline--tRNA ligase.				cellular response to interferon-gamma (GO:0071346)|gene expression (GO:0010467)|glutamyl-tRNA aminoacylation (GO:0006424)|negative regulation of translation (GO:0017148)|prolyl-tRNA aminoacylation (GO:0006433)|protein complex assembly (GO:0006461)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|GAIT complex (GO:0097452)|membrane (GO:0016020)|ribonucleoprotein complex (GO:0030529)	ATP binding (GO:0005524)|glutamate-tRNA ligase activity (GO:0004818)|proline-tRNA ligase activity (GO:0004827)|RNA stem-loop binding (GO:0035613)	p.G1239A(1)		breast(2)|endometrium(11)|kidney(2)|large_intestine(13)|lung(24)|ovary(1)|prostate(3)|skin(2)|stomach(2)|urinary_tract(3)	63				GBM - Glioblastoma multiforme(131;0.0735)	L-Proline(DB00172)	ATGTGATGTTCCTCCCTAAAA	0.328																																						uc001hly.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(3715-3717)GGA>GCA		glutamyl-prolyl tRNA synthetase	L-Glutamic Acid(DB00142)|L-Proline(DB00172)						68.0	71.0	70.0					1																	220152953		2203	4300	6503	SO:0001583	missense	2058				glutamyl-tRNA aminoacylation|prolyl-tRNA aminoacylation|protein complex assembly	cytosol|soluble fraction	ATP binding|glutamate-tRNA ligase activity|proline-tRNA ligase activity|protein binding|RNA binding	g.chr1:220152953C>G	X54326	CCDS31027.1	1q41	2011-07-01			ENSG00000136628	ENSG00000136628	6.1.1.15, 6.1.1.17	"""Aminoacyl tRNA synthetases / Class I"", ""Aminoacyl tRNA synthetases / Class II"""	3418	protein-coding gene	gene with protein product	"""glutamate tRNA ligase"", ""proline tRNA ligase"""	138295		QPRS, QARS		1988429	Standard	NM_004446		Approved	EARS, PARS, GLUPRORS	uc001hly.1	P07814	OTTHUMG00000037433	ENST00000366923.3:c.3716G>C	1.37:g.220152953C>G	ENSP00000355890:p.Gly1239Ala						p.G1239A	NM_004446	NP_004437	P07814	SYEP_HUMAN		GBM - Glioblastoma multiforme(131;0.0735)	27	3986	-			1239			Prolyl-tRNA synthetase.		A0AVA9|B9EGH3|Q05BP6|Q05DF8|Q5DSM1|Q5H9S5|Q6PD57|Q86X73	Missense_Mutation	SNP	ENST00000366923.3	37	c.3716G>C	CCDS31027.1	.	.	.	.	.	.	.	.	.	.	C	0.921	-0.715801	0.03206	.	.	ENSG00000136628	ENST00000366923	T	0.33438	1.41	5.93	-0.962	0.10333	Aminoacyl-tRNA synthetase, class II (1);	0.204038	0.51477	N	0.000092	T	0.13586	0.0329	N	0.03016	-0.435	0.27904	N	0.938854	B	0.02656	0.0	B	0.01281	0.0	T	0.42327	-0.9458	10	0.02654	T	1	-3.1184	24.2738	0.99989	0.0:0.6845:0.3155:0.0	.	1239	P07814	SYEP_HUMAN	A	1239	ENSP00000355890:G1239A	ENSP00000355890:G1239A	G	-	2	0	EPRS	218219576	1.000000	0.71417	0.937000	0.37676	0.737000	0.42083	0.955000	0.29188	-0.397000	0.07691	-0.344000	0.07964	GGA		PASS	0.328	EPRS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091133.2	NM_004446		36	102	36	102	---	---	---	---
SNAP47	116841	broad.mit.edu	37	1	227947172	227947172	+	Nonsense_Mutation	SNP	C	C	G			TCGA-66-2766-01A-01D-1522-08	TCGA-66-2766-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	452b75d0-1818-46aa-8804-9cfc0bd66449	81a4d615-e95e-4c17-87f7-c06d8dd4975a	g.chr1:227947172C>G	ENST00000366759.4	+	3	1523	c.1109C>G	c.(1108-1110)tCa>tGa	p.S370*	SNAP47_ENST00000315781.5_Nonsense_Mutation_p.S370*|SNAP47_ENST00000366760.1_Nonsense_Mutation_p.S128*	NM_053052.3	NP_444280.2	Q5SQN1	SNP47_HUMAN	synaptosomal-associated protein, 47kDa	370					long-term synaptic potentiation (GO:0060291)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|membrane (GO:0016020)|neuronal cell body (GO:0043025)		p.S370*(2)		endometrium(1)|large_intestine(5)|liver(2)|lung(6)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	17						AAGAGCTGCTCAGTCTGGCAT	0.517																																						uc001hrf.2																			2	Substitution - Nonsense(2)	p.S370*(1)	ovary(1)|lung(1)	ovary(1)	1						c.(1108-1110)TCA>TGA		synaptosomal-associated protein, 47kDa							109.0	113.0	111.0					1																	227947172		2203	4300	6503	SO:0001587	stop_gained	116841					endomembrane system|membrane|perinuclear region of cytoplasm		g.chr1:227947172C>G	AY090635	CCDS1562.1	1q42.13	2013-10-11	2008-10-27	2008-10-27	ENSG00000143740	ENSG00000143740			30669	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 142"""	C1orf142		16621800	Standard	NM_053052		Approved	SVAP1, SNAP-47	uc001hrf.2	Q5SQN1	OTTHUMG00000037697	ENST00000366759.4:c.1109C>G	1.37:g.227947172C>G	ENSP00000355721:p.Ser370*					SNAP47_uc001hqz.2_Nonsense_Mutation_p.S325*|SNAP47_uc001hra.2_Nonsense_Mutation_p.S128*|SNAP47_uc001hrd.2_Nonsense_Mutation_p.S370*|SNAP47_uc001hre.2_Nonsense_Mutation_p.S128*|SNAP47_uc001hrg.1_Nonsense_Mutation_p.S325*	p.S370*	NM_053052	NP_444280	Q5SQN1	SNP47_HUMAN			3	1523	+			370					B6EDE0|Q5HYB5|Q5TBZ3|Q8N558|Q8TB31|Q8TCW8|Q8WV46|Q96CQ3|Q96FE1|Q96I66|Q96NU3|Q9BT10|Q9BVB2	Nonsense_Mutation	SNP	ENST00000366759.4	37	c.1109C>G	CCDS1562.1	.	.	.	.	.	.	.	.	.	.	C	22.6	4.305939	0.81247	.	.	ENSG00000143740	ENST00000366760;ENST00000366759;ENST00000315781	.	.	.	4.96	4.05	0.47172	.	0.503679	0.20490	N	0.091309	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	-25.7328	10.853	0.46782	0.0:0.9085:0.0:0.0915	.	.	.	.	X	128;370;370	.	ENSP00000314157:S370X	S	+	2	0	SNAP47	226013795	0.003000	0.15002	0.067000	0.19924	0.061000	0.15899	1.284000	0.33249	1.315000	0.45114	0.561000	0.74099	TCA		PASS	0.517	SNAP47-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091961.1	NM_053052		55	195	55	195	---	---	---	---
TTC13	79573	broad.mit.edu	37	1	231079575	231079575	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2766-01A-01D-1522-08	TCGA-66-2766-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	452b75d0-1818-46aa-8804-9cfc0bd66449	81a4d615-e95e-4c17-87f7-c06d8dd4975a	g.chr1:231079575C>G	ENST00000366661.4	-	6	656	c.649G>C	c.(649-651)Gag>Cag	p.E217Q	TTC13_ENST00000414259.1_Intron|TTC13_ENST00000366662.4_Intron	NM_024525.4	NP_078801.3	Q8NBP0	TTC13_HUMAN	tetratricopeptide repeat domain 13	217								p.E217Q(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)		TCAAATACCTCTGGACGATCT	0.388																																						uc001huf.3																			1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(649-651)GAG>CAG		tetratricopeptide repeat domain 13 isoform a							146.0	146.0	146.0					1																	231079575		2203	4300	6503	SO:0001583	missense	79573						binding	g.chr1:231079575C>G		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.649G>C	1.37:g.231079575C>G	ENSP00000355621:p.Glu217Gln					TTC13_uc009xfi.2_Intron|TTC13_uc009xfj.2_RNA|TTC13_uc001hug.3_Intron|TTC13_uc009xfk.1_Intron	p.E217Q	NM_024525	NP_078801	Q8NBP0	TTC13_HUMAN		COAD - Colon adenocarcinoma(196;0.243)	6	680	-	Breast(184;0.0871)|Ovarian(103;0.183)	Prostate(94;0.167)	217			TPR 2.		B1AQI1|B1AQI2|Q8IVP8|Q8NBI0|Q8ND20	Missense_Mutation	SNP	ENST00000366661.4	37	c.649G>C	CCDS1588.1	.	.	.	.	.	.	.	.	.	.	C	20.6	4.013824	0.75161	.	.	ENSG00000143643	ENST00000366661	T	0.38887	1.11	5.6	5.6	0.85130	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.000000	0.85682	D	0.000000	T	0.40979	0.1139	L	0.52905	1.665	0.80722	D	1	B	0.34214	0.442	B	0.30029	0.11	T	0.19976	-1.0289	10	0.29301	T	0.29	-1.71	19.6136	0.95619	0.0:1.0:0.0:0.0	.	217	Q8NBP0	TTC13_HUMAN	Q	217	ENSP00000355621:E217Q	ENSP00000355621:E217Q	E	-	1	0	TTC13	229146198	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.410000	0.80065	2.641000	0.89580	0.585000	0.79938	GAG		PASS	0.388	TTC13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092229.2	NM_024525		66	192	66	192	---	---	---	---
RYR2	6262	broad.mit.edu	37	1	237551473	237551473	+	Missense_Mutation	SNP	G	G	C			TCGA-66-2766-01A-01D-1522-08	TCGA-66-2766-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	452b75d0-1818-46aa-8804-9cfc0bd66449	81a4d615-e95e-4c17-87f7-c06d8dd4975a	g.chr1:237551473G>C	ENST00000366574.2	+	10	1080	c.763G>C	c.(763-765)Gag>Cag	p.E255Q	RYR2_ENST00000542537.1_Missense_Mutation_p.E239Q|RYR2_ENST00000360064.6_Missense_Mutation_p.E253Q	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	255	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.E253Q(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)			ACATGGTGAAGAGCAGCGGAG	0.453																																						uc001hyl.1																			1	Substitution - Missense(1)		lung(1)	ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1)	33						c.(763-765)GAG>CAG		cardiac muscle ryanodine receptor							100.0	98.0	98.0					1																	237551473		2051	4201	6252	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.chr1:237551473G>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.763G>C	1.37:g.237551473G>C	ENSP00000355533:p.Glu255Gln						p.E255Q	NM_001035	NP_001026	Q92736	RYR2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00606)		10	883	+	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	255			Cytoplasmic (By similarity).|MIR 3.		Q15411|Q546N8|Q5T3P2	Missense_Mutation	SNP	ENST00000366574.2	37	c.763G>C	CCDS55691.1	.	.	.	.	.	.	.	.	.	.	G	20.8	4.049096	0.75846	.	.	ENSG00000198626	ENST00000366574;ENST00000360064;ENST00000542537	D;D;D	0.86956	-2.19;-2.19;-2.19	5.34	5.34	0.76211	MIR motif (2);MIR (2);	0.084250	0.44483	D	0.000445	D	0.89427	0.6712	L	0.43152	1.355	0.80722	D	1	D	0.63880	0.993	P	0.60609	0.877	D	0.88088	0.2811	10	0.34782	T	0.22	-15.8944	15.9497	0.79823	0.0:0.0:1.0:0.0	.	255	Q92736	RYR2_HUMAN	Q	255;253;239	ENSP00000355533:E255Q;ENSP00000353174:E253Q;ENSP00000443798:E239Q	ENSP00000353174:E253Q	E	+	1	0	RYR2	235618096	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	6.655000	0.74392	2.502000	0.84385	0.655000	0.94253	GAG		PASS	0.453	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2	NM_001035		19	50	19	50	---	---	---	---
FH	2271	broad.mit.edu	37	1	241667398	241667398	+	Nonsense_Mutation	SNP	G	G	T			TCGA-66-2766-01A-01D-1522-08	TCGA-66-2766-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	452b75d0-1818-46aa-8804-9cfc0bd66449	81a4d615-e95e-4c17-87f7-c06d8dd4975a	g.chr1:241667398G>T	ENST00000366560.3	-	7	1090	c.1052C>A	c.(1051-1053)tCa>tAa	p.S351*		NM_000143.3	NP_000134.2	P07954	FUMH_HUMAN	fumarate hydratase	351					cellular metabolic process (GO:0044237)|fumarate metabolic process (GO:0006106)|homeostasis of number of cells within a tissue (GO:0048873)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|tricarboxylic acid cycle enzyme complex (GO:0045239)	fumarate hydratase activity (GO:0004333)	p.S351*(1)		biliary_tract(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|skin(2)	26	Ovarian(103;0.103)	all_cancers(173;2.37e-314)|all_epithelial(177;5.17e-286)|Breast(1374;1.06e-10)|Acute lymphoblastic leukemia(190;4.93e-10)|all_neural(198;0.00118)	OV - Ovarian serous cystadenocarcinoma(106;0.0214)	Colorectal(1306;2.33e-53)|COAD - Colon adenocarcinoma(196;1.05e-44)|KIRC - Kidney renal clear cell carcinoma(1967;0.000109)		TCCCAGACCTGACCGAGGACC	0.453			"""Mis, N, F"""			"""lieomyomatosis, renal"""			Hereditary Leiomyomatosis and Renal Cell Cancer																												Melanoma(148;1573 2486 7381 46575)	uc001hyx.2			yes	Rec		hereditary leiomyomatosis and renal cell cancer	1	1q42.1	2271	Mis|N|F	fumarate hydratase			"""E, M"""		lieomyomatosis|renal			1	Substitution - Nonsense(1)		lung(1)	lung(3)|ovary(1)|skin(1)	5						c.(1051-1053)TCA>TAA		fumarate hydratase precursor							110.0	87.0	95.0					1																	241667398		2203	4300	6503	SO:0001587	stop_gained	2271	Hereditary_Leiomyomatosis_and_Renal_Cell_Cancer	Familial Cancer Database	HLRCC, Reed syndrome, Hereditary Multiple Leiomyomata of Skin and Uterus	fumarate metabolic process|tricarboxylic acid cycle	cell junction|mitochondrial matrix|tricarboxylic acid cycle enzyme complex	fumarate hydratase activity	g.chr1:241667398G>T	BC003108	CCDS1617.1	1q42.1	2014-09-17			ENSG00000091483	ENSG00000091483	4.2.1.2		3700	protein-coding gene	gene with protein product		136850					Standard	NM_000143		Approved	fumarase	uc001hyx.3	P07954	OTTHUMG00000039597	ENST00000366560.3:c.1052C>A	1.37:g.241667398G>T	ENSP00000355518:p.Ser351*						p.S351*	NM_000143	NP_000134	P07954	FUMH_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0214)	Colorectal(1306;2.33e-53)|COAD - Colon adenocarcinoma(196;1.05e-44)|KIRC - Kidney renal clear cell carcinoma(1967;0.000109)	7	1084	-	Ovarian(103;0.103)	all_cancers(173;2.37e-314)|all_epithelial(177;5.17e-286)|Breast(1374;1.06e-10)|Acute lymphoblastic leukemia(190;4.93e-10)|all_neural(198;0.00118)	351					B1ANK7	Nonsense_Mutation	SNP	ENST00000366560.3	37	c.1052C>A	CCDS1617.1	.	.	.	.	.	.	.	.	.	.	G	37	6.329853	0.97480	.	.	ENSG00000091483	ENST00000366560	.	.	.	5.73	5.73	0.89815	.	0.259107	0.39341	N	0.001398	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.18710	T	0.47	-11.7403	17.394	0.87440	0.0:0.0:1.0:0.0	.	.	.	.	X	351	.	ENSP00000355518:S351X	S	-	2	0	FH	239734021	1.000000	0.71417	0.873000	0.34254	0.836000	0.47400	9.223000	0.95203	2.709000	0.92574	0.655000	0.94253	TCA		PASS	0.453	FH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095490.1	NM_000143		24	41	24	41	---	---	---	---
AHCTF1	25909	broad.mit.edu	37	1	247024468	247024468	+	Missense_Mutation	SNP	G	G	C			TCGA-66-2766-01A-01D-1522-08	TCGA-66-2766-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	452b75d0-1818-46aa-8804-9cfc0bd66449	81a4d615-e95e-4c17-87f7-c06d8dd4975a	g.chr1:247024468G>C	ENST00000391829.2	-	29	3988	c.3865C>G	c.(3865-3867)Caa>Gaa	p.Q1289E	AHCTF1_ENST00000470300.1_5'UTR|AHCTF1_ENST00000326225.3_Missense_Mutation_p.Q1298E|AHCTF1_ENST00000366508.1_Missense_Mutation_p.Q1324E			Q8WYP5	ELYS_HUMAN	AT hook containing transcription factor 1	1289	Disordered. {ECO:0000250}.|Necessary for nuclear localization. {ECO:0000250}.				cytokinesis (GO:0000910)|mitotic cell cycle (GO:0000278)|mRNA transport (GO:0051028)|nuclear pore complex assembly (GO:0051292)|protein transport (GO:0015031)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|kinetochore (GO:0000776)|nuclear matrix (GO:0016363)|nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.Q1289E(1)		NS(1)|breast(6)|cervix(3)|endometrium(8)|kidney(6)|large_intestine(12)|liver(2)|lung(21)|ovary(5)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	74	all_cancers(71;3.05e-05)|all_epithelial(71;6.72e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0458)|Lung NSC(105;0.0518)	all_cancers(173;0.0266)	OV - Ovarian serous cystadenocarcinoma(106;0.00271)			TCCATTTCTTGATGCTCCTTT	0.418																																					Colon(145;197 1800 4745 15099 26333)	uc001ibu.1																			1	Substitution - Missense(1)		lung(1)	ovary(5)|skin(2)	7						c.(3865-3867)CAA>GAA		transcription factor ELYS							80.0	71.0	74.0					1																	247024468		2203	4299	6502	SO:0001583	missense	25909				cytokinesis|mitotic prometaphase|mRNA transport|nuclear pore complex assembly|protein transport|transmembrane transport	condensed chromosome kinetochore|cytosol|nuclear matrix|nuclear membrane|nuclear pore|nucleoplasm	DNA binding	g.chr1:247024468G>C		CCDS1629.1, CCDS1629.2	1q44	2008-09-09			ENSG00000153207	ENSG00000153207			24618	protein-coding gene	gene with protein product	"""ELYS transcription factor like protein TMBS62"""	610853				11952839	Standard	NM_015446		Approved	ELYS	uc001ibv.2	Q8WYP5	OTTHUMG00000040706	ENST00000391829.2:c.3865C>G	1.37:g.247024468G>C	ENSP00000375705:p.Gln1289Glu					AHCTF1_uc001ibv.1_Missense_Mutation_p.Q1298E|AHCTF1_uc009xgs.1_Missense_Mutation_p.Q150E|AHCTF1_uc001ibw.1_RNA	p.Q1289E	NM_015446	NP_056261	Q8WYP5	ELYS_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00271)		28	3872	-	all_cancers(71;3.05e-05)|all_epithelial(71;6.72e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0458)|Lung NSC(105;0.0518)	all_cancers(173;0.0266)	1289			Necessary for nuclear localization (By similarity).		A6NGM0|A8MSG9|A8MZ86|Q7Z4E3|Q8IZA4|Q96EH9|Q9Y4Q6	Missense_Mutation	SNP	ENST00000391829.2	37	c.3865C>G		.	.	.	.	.	.	.	.	.	.	g	0.006	-2.025946	0.00414	.	.	ENSG00000153207	ENST00000366508;ENST00000326225;ENST00000391829	T;T;T	0.29397	1.57;1.57;1.57	5.84	1.25	0.21368	.	0.727240	0.12579	N	0.456608	T	0.27063	0.0663	L	0.51422	1.61	0.09310	N	1	B;B;B	0.11235	0.004;0.004;0.003	B;B;B	0.13407	0.009;0.009;0.004	T	0.39418	-0.9615	10	0.02654	T	1	-0.1398	17.8421	0.88718	0.0:0.6968:0.3032:0.0	.	150;1324;1289	B3KTD2;Q8WYP5-2;Q8WYP5	.;.;ELYS_HUMAN	E	1324;1298;1289	ENSP00000355464:Q1324E;ENSP00000355465:Q1298E;ENSP00000375705:Q1289E	ENSP00000355465:Q1298E	Q	-	1	0	AHCTF1	245091091	1.000000	0.71417	0.001000	0.08648	0.034000	0.12701	2.298000	0.43602	0.440000	0.26502	-0.188000	0.12872	CAA		PASS	0.418	AHCTF1-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_015446		36	130	36	130	---	---	---	---
OR2T27	403239	broad.mit.edu	37	1	248813788	248813788	+	Missense_Mutation	SNP	G	G	T	rs561258192	byFrequency	TCGA-66-2766-01A-01D-1522-08	TCGA-66-2766-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	452b75d0-1818-46aa-8804-9cfc0bd66449	81a4d615-e95e-4c17-87f7-c06d8dd4975a	g.chr1:248813788G>T	ENST00000344889.3	-	1	397	c.398C>A	c.(397-399)cCt>cAt	p.P133H		NM_001001824.1	NP_001001824.1	Q8NH04	O2T27_HUMAN	olfactory receptor, family 2, subfamily T, member 27	133						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.P133H(1)		breast(2)|endometrium(2)|large_intestine(4)|lung(20)|skin(3)|stomach(1)	32	all_cancers(71;1.15e-05)|all_epithelial(71;5.29e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.089)|Lung NSC(105;0.0969)|Melanoma(84;0.199)	all_cancers(173;0.237)	OV - Ovarian serous cystadenocarcinoma(106;0.0265)			CATGAGGACAGGATAGTGCAG	0.547																																						uc010pzo.1																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(397-399)CCT>CAT		olfactory receptor, family 2, subfamily T,							90.0	56.0	68.0					1																	248813788		2202	4266	6468	SO:0001583	missense	403239				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248813788G>T		CCDS31124.1	1q44	2012-08-09			ENSG00000187701	ENSG00000187701		"""GPCR / Class A : Olfactory receptors"""	31252	protein-coding gene	gene with protein product							Standard	NM_001001824		Approved		uc010pzo.2	Q8NH04	OTTHUMG00000040376	ENST00000344889.3:c.398C>A	1.37:g.248813788G>T	ENSP00000342008:p.Pro133His						p.P133H	NM_001001824	NP_001001824	Q8NH04	O2T27_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0265)		1	398	-	all_cancers(71;1.15e-05)|all_epithelial(71;5.29e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.089)|Lung NSC(105;0.0969)|Melanoma(84;0.199)	all_cancers(173;0.237)	133			Cytoplasmic (Potential).			Missense_Mutation	SNP	ENST00000344889.3	37	c.398C>A	CCDS31124.1	.	.	.	.	.	.	.	.	.	.	.	6.872	0.530359	0.13127	.	.	ENSG00000187701	ENST00000344889	T	0.01139	5.28	2.74	2.74	0.32292	GPCR, rhodopsin-like superfamily (1);	0.190191	0.25830	N	0.028032	T	0.01287	0.0042	L	0.45051	1.395	0.09310	N	1	P	0.36616	0.561	B	0.33196	0.159	T	0.49588	-0.8924	10	0.62326	D	0.03	.	9.3321	0.38027	0.0:0.0:0.7853:0.2147	.	133	Q8NH04	O2T27_HUMAN	H	133	ENSP00000342008:P133H	ENSP00000342008:P133H	P	-	2	0	OR2T27	246880411	0.000000	0.05858	0.004000	0.12327	0.038000	0.13279	-0.301000	0.08232	1.854000	0.53819	0.194000	0.17425	CCT		PASS	0.547	OR2T27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097124.1	NM_001001824		13	71	13	71	---	---	---	---
GEN1	348654	broad.mit.edu	37	2	17952508	17952508	+	Silent	SNP	G	G	T			TCGA-66-2766-01A-01D-1522-08	TCGA-66-2766-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	452b75d0-1818-46aa-8804-9cfc0bd66449	81a4d615-e95e-4c17-87f7-c06d8dd4975a	g.chr2:17952508G>T	ENST00000381254.2	+	7	970	c.756G>T	c.(754-756)ctG>ctT	p.L252L	GEN1_ENST00000317402.7_Silent_p.L252L|SMC6_ENST00000402989.1_Intron	NM_001130009.1	NP_001123481.1	Q17RS7	GEN_HUMAN	GEN1 Holliday junction 5' flap endonuclease	252					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.L252L(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)					GTCCACAACTGCTAGTCACTA	0.353								Homologous recombination																														uc002rct.2																			1	Substitution - coding silent(1)		lung(1)	breast(5)|kidney(1)|central_nervous_system(1)|skin(1)	8						c.(754-756)CTG>CTT	Homologous_recombination	Gen homolog 1, endonuclease							127.0	113.0	118.0					2																	17952508		2203	4300	6503	SO:0001819	synonymous_variant	348654				DNA repair	nucleus	DNA binding|endonuclease activity|metal ion binding	g.chr2:17952508G>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.756G>T	2.37:g.17952508G>T						SMC6_uc010exo.2_Intron|GEN1_uc010yjs.1_Silent_p.L252L|GEN1_uc002rcu.2_Silent_p.L252L	p.L252L	NM_182625	NP_872431	Q17RS7	GEN_HUMAN			7	829	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)		252					Q17RS9|Q6ZN37	Silent	SNP	ENST00000381254.2	37	c.756G>T	CCDS1691.1																																																																																				PASS	0.353	GEN1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241661.2	NM_182625		49	32	49	32	---	---	---	---
SLC8A1	6546	broad.mit.edu	37	2	40655902	40655902	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2766-01A-01D-1522-08	TCGA-66-2766-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	452b75d0-1818-46aa-8804-9cfc0bd66449	81a4d615-e95e-4c17-87f7-c06d8dd4975a	g.chr2:40655902C>A	ENST00000403092.1	-	2	1552	c.1519G>T	c.(1519-1521)Gat>Tat	p.D507Y	SLC8A1_ENST00000542756.1_Missense_Mutation_p.D507Y|SLC8A1_ENST00000542024.1_Missense_Mutation_p.D507Y|SLC8A1_ENST00000402441.1_Missense_Mutation_p.D507Y|SLC8A1_ENST00000405269.1_Missense_Mutation_p.D507Y|SLC8A1_ENST00000406391.2_Missense_Mutation_p.D507Y|SLC8A1_ENST00000405901.3_Missense_Mutation_p.D507Y|SLC8A1_ENST00000406785.2_Missense_Mutation_p.D507Y|SLC8A1_ENST00000332839.4_Missense_Mutation_p.D507Y|SLC8A1_ENST00000408028.2_Missense_Mutation_p.D507Y			P32418	NAC1_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 1	507					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.D507Y(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)	AGTATGCCATCTTCTGAAGCT	0.423																																						uc002rrx.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|kidney(1)|central_nervous_system(1)|skin(1)	4						c.(1519-1521)GAT>TAT		solute carrier family 8 (sodium/calcium	Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159)						84.0	83.0	83.0					2																	40655902		2203	4300	6503	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.chr2:40655902C>A		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.1519G>T	2.37:g.40655902C>A	ENSP00000384763:p.Asp507Tyr					SLC8A1_uc002rry.2_Missense_Mutation_p.D507Y|SLC8A1_uc002rrz.2_Missense_Mutation_p.D507Y|SLC8A1_uc002rsa.2_Missense_Mutation_p.D507Y|SLC8A1_uc002rsd.3_Missense_Mutation_p.D507Y|SLC8A1_uc002rsb.1_Missense_Mutation_p.D507Y|SLC8A1_uc010fan.1_Missense_Mutation_p.D507Y|SLC8A1_uc002rsc.1_Missense_Mutation_p.D507Y	p.D507Y	NM_021097	NP_066920	P32418	NAC1_HUMAN			1	1543	-			507			Cytoplasmic (Potential).		A8K6N1|D6W595|O95849|Q4QQG6|Q587I6|Q59GN4|Q9UBL8|Q9UD55|Q9UDN1|Q9UDN2|Q9UKX6	Missense_Mutation	SNP	ENST00000403092.1	37	c.1519G>T	CCDS1806.1	.	.	.	.	.	.	.	.	.	.	C	12.97	2.096938	0.37048	.	.	ENSG00000183023	ENST00000406785;ENST00000378715;ENST00000542756;ENST00000403092;ENST00000405901;ENST00000402441;ENST00000405269;ENST00000332839;ENST00000408028;ENST00000535962;ENST00000406391;ENST00000542024	T;T;T;T;T;T;T;T;T;T	0.35421	1.31;1.31;1.31;1.31;1.31;1.31;1.31;1.31;1.31;1.31	6.17	6.17	0.99709	.	0.212671	0.50627	D	0.000107	T	0.31638	0.0803	N	0.19112	0.55	0.80722	D	1	B;P;B;B;B	0.46395	0.033;0.877;0.033;0.008;0.002	B;B;B;B;B	0.43413	0.006;0.419;0.01;0.002;0.001	T	0.04203	-1.0969	10	0.54805	T	0.06	.	18.3732	0.90420	0.0:1.0:0.0:0.0	.	507;507;507;507;507	P32418-4;P32418-2;P32418-3;F6VPY9;P32418	.;.;.;.;NAC1_HUMAN	Y	507	ENSP00000383886:D507Y;ENSP00000440727:D507Y;ENSP00000384763:D507Y;ENSP00000385678:D507Y;ENSP00000385188:D507Y;ENSP00000385535:D507Y;ENSP00000332931:D507Y;ENSP00000384908:D507Y;ENSP00000385811:D507Y;ENSP00000443515:D507Y	ENSP00000332931:D507Y	D	-	1	0	SLC8A1	40509406	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.920000	0.70017	2.941000	0.99782	0.655000	0.94253	GAT		PASS	0.423	SLC8A1-010	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326065.1	NM_021097		151	108	151	108	---	---	---	---
ZFP36L2	678	broad.mit.edu	37	2	43452889	43452889	+	Silent	SNP	T	T	A			TCGA-66-2766-01A-01D-1522-08	TCGA-66-2766-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	452b75d0-1818-46aa-8804-9cfc0bd66449	81a4d615-e95e-4c17-87f7-c06d8dd4975a	g.chr2:43452889T>A	ENST00000282388.3	-	2	347	c.54A>T	c.(52-54)acA>acT	p.T18T	THADA_ENST00000330266.7_Intron	NM_006887.4	NP_008818.3	P47974	TISD_HUMAN	ZFP36 ring finger protein-like 2	18					cell proliferation (GO:0008283)|definitive hemopoiesis (GO:0060216)|hemopoiesis (GO:0030097)|mRNA catabolic process (GO:0006402)|negative regulation of stem cell differentiation (GO:2000737)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900153)|regulation of mRNA stability (GO:0043488)|regulation of transcription, DNA-templated (GO:0006355)|somatic stem cell division (GO:0048103)|somatic stem cell maintenance (GO:0035019)|T cell differentiation in thymus (GO:0033077)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	AU-rich element binding (GO:0017091)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|mRNA 3'-UTR AU-rich region binding (GO:0035925)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.T18T(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	15		Acute lymphoblastic leukemia(82;0.00323)|all_hematologic(82;0.00824)				GGGATTTCTCTGTCTGCCAAA	0.622																																						uc002rsv.3																			1	Substitution - coding silent(1)		lung(1)		0						c.(52-54)ACA>ACT		zinc finger protein 36, C3H type-like 2							18.0	20.0	19.0					2																	43452889		2182	4264	6446	SO:0001819	synonymous_variant	678				cell proliferation	nucleus	DNA binding|RNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr2:43452889T>A	X78992	CCDS1811.1	2p22.3-p21	2012-11-27	2012-11-27	2001-11-23	ENSG00000152518	ENSG00000152518		"""RING-type (C3HC4) zinc fingers"""	1108	protein-coding gene	gene with protein product		612053	"""zinc finger protein 36, C3H type-like 1"", ""zinc finger protein 36, C3H type-like 2"""	BRF2		7835719, 8545129, 14981510, 17172869	Standard	NM_006887		Approved	ERF2, RNF162C, TIS11D	uc002rsv.4	P47974	OTTHUMG00000128642	ENST00000282388.3:c.54A>T	2.37:g.43452889T>A						LOC100129726_uc010ynx.1_5'Flank	p.T18T	NM_006887	NP_008818	P47974	TISD_HUMAN			2	345	-		Acute lymphoblastic leukemia(82;0.00323)|all_hematologic(82;0.00824)	18					Q53TB4|Q9BSJ3	Silent	SNP	ENST00000282388.3	37	c.54A>T	CCDS1811.1																																																																																				PASS	0.622	ZFP36L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250513.2	NM_006887		44	33	44	33	---	---	---	---
PSME4	23198	broad.mit.edu	37	2	54164584	54164584	+	Silent	SNP	A	A	G	rs193125032		TCGA-66-2766-01A-01D-1522-08	TCGA-66-2766-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	452b75d0-1818-46aa-8804-9cfc0bd66449	81a4d615-e95e-4c17-87f7-c06d8dd4975a	g.chr2:54164584A>G	ENST00000404125.1	-	5	694	c.639T>C	c.(637-639)taT>taC	p.Y213Y	PSME4_ENST00000421748.2_Intron	NM_014614.2	NP_055429.2	Q14997	PSME4_HUMAN	proteasome (prosome, macropain) activator subunit 4	213					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cellular nitrogen compound metabolic process (GO:0034641)|cellular response to DNA damage stimulus (GO:0006974)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA repair (GO:0006281)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|proteasomal ubiquitin-independent protein catabolic process (GO:0010499)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|spermatogenesis, exchange of chromosomal proteins (GO:0035093)|viral process (GO:0016032)	cytosol (GO:0005829)|nucleus (GO:0005634)|spermatoproteasome complex (GO:1990111)	lysine-acetylated histone binding (GO:0070577)|peptidase activator activity (GO:0016504)	p.Y99Y(1)|p.Y213Y(1)		breast(5)|endometrium(8)|kidney(1)|large_intestine(11)|lung(26)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(2)	60			Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181)			ATATTTCAAAATAAGTGATGG	0.368													A|||	1	0.000199681	0.0	0.0	5008	,	,		18964	0.0		0.001	False		,,,				2504	0.0					uc002rxp.2																			2	Substitution - coding silent(2)		lung(2)	ovary(2)|breast(2)|pancreas(1)	5						c.(637-639)TAT>TAC		proteasome (prosome, macropain) activator							106.0	113.0	111.0					2																	54164584		2203	4300	6503	SO:0001819	synonymous_variant	23198				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|cell differentiation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|M/G1 transition of mitotic cell cycle|mRNA metabolic process|multicellular organismal development|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|spermatogenesis|viral reproduction	nuclear speck|proteasome complex	binding	g.chr2:54164584A>G	D38521	CCDS33197.2	2p16.1	2003-04-14			ENSG00000068878	ENSG00000068878		"""Proteasome (prosome, macropain) subunits"""	20635	protein-coding gene	gene with protein product		607705				7584044, 12093752	Standard	NM_014614		Approved	PA200, KIAA0077	uc002rxp.2	Q14997	OTTHUMG00000151852	ENST00000404125.1:c.639T>C	2.37:g.54164584A>G						PSME4_uc010yop.1_Silent_p.Y99Y|PSME4_uc010yoq.1_RNA|PSME4_uc010fbu.1_5'UTR|PSME4_uc010fbv.1_Intron	p.Y213Y	NM_014614	NP_055429	Q14997	PSME4_HUMAN	Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181)		5	695	-			213					Q1XBG4|Q1XBG5|Q1XBG6|Q2M1Z0|Q6IPR2|Q86XF8	Silent	SNP	ENST00000404125.1	37	c.639T>C	CCDS33197.2																																																																																				PASS	0.368	PSME4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324163.1	XM_040158		180	135	180	135	---	---	---	---
CCDC85A	114800	broad.mit.edu	37	2	56420271	56420271	+	Silent	SNP	G	G	T			TCGA-66-2766-01A-01D-1522-08	TCGA-66-2766-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	452b75d0-1818-46aa-8804-9cfc0bd66449	81a4d615-e95e-4c17-87f7-c06d8dd4975a	g.chr2:56420271G>T	ENST00000407595.2	+	2	1438	c.936G>T	c.(934-936)ggG>ggT	p.G312G	RP11-482H16.1_ENST00000607540.1_RNA	NM_001080433.1	NP_001073902.1	Q96PX6	CC85A_HUMAN	coiled-coil domain containing 85A	312	His-rich.							p.G312G(1)		breast(6)|cervix(2)|endometrium(5)|kidney(1)|lung(18)|ovary(2)|pancreas(1)|prostate(3)	38			LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)			TGCTGAGTGGGAGCCCGGAAC	0.642																																						uc002rzn.2																			1	Substitution - coding silent(1)		lung(1)	breast(3)|ovary(2)	5						c.(934-936)GGG>GGT		coiled-coil domain containing 85A							60.0	72.0	68.0					2																	56420271		2040	4193	6233	SO:0001819	synonymous_variant	114800							g.chr2:56420271G>T	AB067499	CCDS46290.1	2p16.1	2006-03-29			ENSG00000055813	ENSG00000055813			29400	protein-coding gene	gene with protein product						11572484	Standard	NM_001080433		Approved	KIAA1912	uc002rzn.3	Q96PX6	OTTHUMG00000152033	ENST00000407595.2:c.936G>T	2.37:g.56420271G>T							p.G312G	NM_001080433	NP_001073902	Q96PX6	CC85A_HUMAN	LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)		2	1438	+			312			His-rich.			Silent	SNP	ENST00000407595.2	37	c.936G>T	CCDS46290.1																																																																																				PASS	0.642	CCDC85A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324993.1			25	182	25	182	---	---	---	---
USP34	9736	broad.mit.edu	37	2	61439041	61439041	+	Silent	SNP	C	C	A			TCGA-66-2766-01A-01D-1522-08	TCGA-66-2766-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	452b75d0-1818-46aa-8804-9cfc0bd66449	81a4d615-e95e-4c17-87f7-c06d8dd4975a	g.chr2:61439041C>A	ENST00000398571.2	-	69	8782	c.8706G>T	c.(8704-8706)ctG>ctT	p.L2902L	USP34_ENST00000472689.1_5'UTR	NM_014709.3	NP_055524.3	Q70CQ2	UBP34_HUMAN	ubiquitin specific peptidase 34	2902					positive regulation of canonical Wnt signaling pathway (GO:0090263)|protein deubiquitination (GO:0016579)|protein K48-linked deubiquitination (GO:0071108)|ubiquitin-dependent protein catabolic process (GO:0006511)|Wnt signaling pathway (GO:0016055)		cysteine-type endopeptidase activity (GO:0004197)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)	p.L2902L(1)		autonomic_ganglia(1)|breast(14)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(52)|ovary(8)|prostate(10)|skin(6)|urinary_tract(2)	138			Epithelial(17;0.229)			ACAGCTGCATCAGGTTAAACA	0.348																																						uc002sbe.2																			1	Substitution - coding silent(1)		lung(1)	ovary(8)|breast(5)|skin(3)|lung(2)|prostate(1)	19						c.(8704-8706)CTG>CTT		ubiquitin specific protease 34							87.0	81.0	83.0					2																	61439041		1828	4085	5913	SO:0001819	synonymous_variant	9736				positive regulation of canonical Wnt receptor signaling pathway|protein K48-linked deubiquitination|ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway		cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chr2:61439041C>A	AB011142	CCDS42686.1	2p16.1-p15	2005-08-08	2005-08-08		ENSG00000115464	ENSG00000115464		"""Ubiquitin-specific peptidases"""	20066	protein-coding gene	gene with protein product		615295	"""ubiquitin specific protease 34"""			12838346	Standard	NM_014709		Approved	KIAA0570, KIAA0729	uc002sbe.3	Q70CQ2	OTTHUMG00000152265	ENST00000398571.2:c.8706G>T	2.37:g.61439041C>A							p.L2902L	NM_014709	NP_055524	Q70CQ2	UBP34_HUMAN	Epithelial(17;0.229)		69	8728	-			2902					A8MWD0|B3KWU9|O60316|O94834|Q3B777|Q6P6C9|Q7L8P6|Q8N3T9|Q8TBW2|Q9UGA1	Silent	SNP	ENST00000398571.2	37	c.8706G>T	CCDS42686.1	.	.	.	.	.	.	.	.	.	.	C	8.602	0.887136	0.17540	.	.	ENSG00000115464	ENST00000411912	.	.	.	6.06	4.25	0.50352	.	.	.	.	.	T	0.61961	0.2389	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.58451	-0.7634	4	.	.	.	.	10.6483	0.45634	0.0:0.529:0.3979:0.0732	.	.	.	.	Y	662	.	.	D	-	1	0	USP34	61292545	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.697000	0.47060	0.872000	0.35775	0.650000	0.86243	GAT		PASS	0.348	USP34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325650.4			22	181	22	181	---	---	---	---
FBXO41	150726	broad.mit.edu	37	2	73487572	73487572	+	Silent	SNP	C	C	T			TCGA-66-2766-01A-01D-1522-08	TCGA-66-2766-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	452b75d0-1818-46aa-8804-9cfc0bd66449	81a4d615-e95e-4c17-87f7-c06d8dd4975a	g.chr2:73487572C>T	ENST00000521871.1	-	11	2809	c.2394G>A	c.(2392-2394)gaG>gaA	p.E798E	FBXO41_ENST00000520530.2_Silent_p.E798E|FBXO41_ENST00000295133.5_Silent_p.E859E			Q8TF61	FBX41_HUMAN	F-box protein 41	798								p.E422E(1)|p.E798E(1)		breast(2)|central_nervous_system(1)|endometrium(1)|lung(6)|pancreas(1)|prostate(1)|skin(1)	13						GCACCAGCATCTCCAGTCCCT	0.617																																						uc002sjb.1																			2	Substitution - coding silent(2)		lung(2)	breast(2)|pancreas(1)	3						c.(2575-2577)GAG>GAA		F-box protein 41							42.0	44.0	43.0					2																	73487572		2159	4276	6435	SO:0001819	synonymous_variant	150726					intracellular	protein binding|zinc ion binding	g.chr2:73487572C>T	AB075820	CCDS46337.1, CCDS46337.2	2p13.2	2004-08-24				ENSG00000163013		"""F-boxes /  ""other"""""	29409	protein-coding gene	gene with protein product		609108				11853319	Standard	NM_001080410		Approved	KIAA1940, Fbx41	uc021vjh.1	Q8TF61		ENST00000521871.1:c.2394G>A	2.37:g.73487572C>T							p.E859E	NM_001080410	NP_001073879	Q8TF61	FBX41_HUMAN			11	2577	-			798					G3V0Z7|Q2M1V8	Silent	SNP	ENST00000521871.1	37	c.2577G>A	CCDS46337.2																																																																																				PASS	0.617	FBXO41-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377381.1			8	16	8	16	---	---	---	---
LRRTM4	80059	broad.mit.edu	37	2	76975851	76975851	+	Silent	SNP	C	C	T			TCGA-66-2766-01A-01D-1522-08	TCGA-66-2766-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	452b75d0-1818-46aa-8804-9cfc0bd66449	81a4d615-e95e-4c17-87f7-c06d8dd4975a	g.chr2:76975851C>T	ENST00000409093.1	-	4	2079	c.1743G>A	c.(1741-1743)ccG>ccA	p.P581P	LRRTM4_ENST00000409911.1_Silent_p.P582P|LRRTM4_ENST00000409884.1_Silent_p.P581P			Q86VH4	LRRT4_HUMAN	leucine rich repeat transmembrane neuronal 4	581					alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor clustering (GO:0097113)|regulation of presynaptic membrane organization (GO:1901629)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|postsynaptic membrane (GO:0045211)		p.P581P(1)		autonomic_ganglia(1)|endometrium(1)|large_intestine(6)|lung(49)|ovary(2)|pancreas(3)|prostate(1)|upper_aerodigestive_tract(1)	64				Colorectal(11;0.059)		GGTAGATGGCCGGTGCTGCCG	0.597																																						uc002snr.2																			1	Substitution - coding silent(1)		lung(1)	pancreas(3)|ovary(1)	4						c.(1741-1743)CCG>CCA		leucine rich repeat transmembrane neuronal 4							149.0	135.0	139.0					2																	76975851		1568	3582	5150	SO:0001819	synonymous_variant	80059					integral to membrane		g.chr2:76975851C>T	AK122612	CCDS46346.1, CCDS46347.1, CCDS74530.1	2p12	2008-02-05			ENSG00000176204	ENSG00000176204			19411	protein-coding gene	gene with protein product		610870				12676565	Standard	NM_024993		Approved	FLJ12568	uc002snr.3	Q86VH4	OTTHUMG00000152842	ENST00000409093.1:c.1743G>A	2.37:g.76975851C>T						LRRTM4_uc002snq.2_Silent_p.P581P	p.P581P	NM_001134745	NP_001128217	Q86VH4	LRRT4_HUMAN		Colorectal(11;0.059)	4	2158	-			581			Cytoplasmic (Potential).		Q4FZ98|Q6UXJ7	Silent	SNP	ENST00000409093.1	37	c.1743G>A	CCDS46346.1																																																																																				PASS	0.597	LRRTM4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000328225.1	NM_024993		94	117	94	117	---	---	---	---
REG1A	5967	broad.mit.edu	37	2	79349207	79349207	+	Missense_Mutation	SNP	A	A	C			TCGA-66-2766-01A-01D-1522-08	TCGA-66-2766-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	452b75d0-1818-46aa-8804-9cfc0bd66449	81a4d615-e95e-4c17-87f7-c06d8dd4975a	g.chr2:79349207A>C	ENST00000233735.1	+	4	380	c.277A>C	c.(277-279)Act>Cct	p.T93P		NM_002909.4	NP_002900.2	P05451	REG1A_HUMAN	regenerating islet-derived 1 alpha	93	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				positive regulation of cell proliferation (GO:0008284)	extracellular vesicular exosome (GO:0070062)	carbohydrate binding (GO:0030246)|growth factor activity (GO:0008083)	p.T93P(1)		NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(26)|prostate(1)|upper_aerodigestive_tract(1)	39						GGAGAGTGGCACTGATGACTT	0.507																																						uc002snz.2																			1	Substitution - Missense(1)		lung(1)		0						c.(277-279)ACT>CCT		regenerating islet-derived 1 alpha precursor							144.0	127.0	133.0					2																	79349207		2203	4300	6503	SO:0001583	missense	5967				positive regulation of cell proliferation	extracellular region	growth factor activity|sugar binding	g.chr2:79349207A>C		CCDS1964.1	2p12	2008-09-04	2008-06-04		ENSG00000115386	ENSG00000115386			9951	protein-coding gene	gene with protein product	"""pancreatic stone protein"", ""pancreatic thread protein"""	167770	"""regenerating islet-derived 1 alpha (pancreatic stone protein, pancreatic thread protein)"""	REG		2332435, 8333731	Standard	NM_002909		Approved	PSP, PTP, PSPS, PSPS1	uc002snz.3	P05451	OTTHUMG00000130016	ENST00000233735.1:c.277A>C	2.37:g.79349207A>C	ENSP00000233735:p.Thr93Pro					REG1A_uc010ffx.1_3'UTR|REG1A_uc010ysd.1_Missense_Mutation_p.T93P	p.T93P	NM_002909	NP_002900	P05451	REG1A_HUMAN			4	380	+			93			C-type lectin.		P11379|Q4ZG28	Missense_Mutation	SNP	ENST00000233735.1	37	c.277A>C	CCDS1964.1	.	.	.	.	.	.	.	.	.	.	a	13.24	2.177694	0.38413	.	.	ENSG00000115386	ENST00000233735	T	0.08282	3.11	3.51	1.03	0.20045	C-type lectin fold (1);C-type lectin-like (1);C-type lectin (3);	0.757532	0.10897	N	0.622005	T	0.13970	0.0338	L	0.33792	1.035	0.09310	N	1	D	0.64830	0.994	D	0.65874	0.939	T	0.21930	-1.0231	10	0.51188	T	0.08	.	5.1058	0.14783	0.7353:0.0:0.2647:0.0	.	93	P05451	REG1A_HUMAN	P	93	ENSP00000233735:T93P	ENSP00000233735:T93P	T	+	1	0	REG1A	79202715	0.000000	0.05858	0.002000	0.10522	0.706000	0.40770	-0.420000	0.07062	0.110000	0.17919	0.460000	0.39030	ACT		PASS	0.507	REG1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252289.1	NM_002909		42	131	42	131	---	---	---	---
IGKV3-7	28915	broad.mit.edu	37	2	89278031	89278031	+	RNA	SNP	C	C	A	rs545887714		TCGA-66-2766-01A-01D-1522-08	TCGA-66-2766-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	452b75d0-1818-46aa-8804-9cfc0bd66449	81a4d615-e95e-4c17-87f7-c06d8dd4975a	g.chr2:89278031C>A	ENST00000390247.2	-	0	400									immunoglobulin kappa variable 3-7 (non-functional)																		GCAAAATCTTCAGGCTGCAGG	0.478																																						uc010ytr.1																			0													Parts of antibodies, mostly variable regions.							25.0	25.0	25.0					2																	89278031		1789	4001	5790			0							g.chr2:89278031C>A	X02725		2p11.2	2012-02-08	2008-09-10		ENSG00000243063	ENSG00000243063		"""Immunoglobulins / IGK locus"""	5821	other	immunoglobulin gene			"""immunoglobulin kappa variable 3-7"""				Standard	NG_000834		Approved				OTTHUMG00000151636		2.37:g.89278031C>A						uc002stl.2_Intron								88		-									RNA	SNP	ENST00000390247.2	37	c.7353G>T																																																																																					PASS	0.478	IGKV3-7-001	KNOWN	non_canonical_polymorphism|mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IG_V_gene	OTTHUMT00000323360.1	NG_000834		21	51	21	51	---	---	---	---
IGKV1-9	28941	broad.mit.edu	37	2	89309597	89309597	+	RNA	SNP	C	C	A			TCGA-66-2766-01A-01D-1522-08	TCGA-66-2766-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	452b75d0-1818-46aa-8804-9cfc0bd66449	81a4d615-e95e-4c17-87f7-c06d8dd4975a	g.chr2:89309597C>A	ENST00000493819.1	-	0	290									immunoglobulin kappa variable 1-9																		TGGGACCCCACTTTGCAAAGT	0.498																																						uc010ytr.1																			0													Parts of antibodies, mostly variable regions.							114.0	108.0	110.0					2																	89309597		1820	4066	5886			0							g.chr2:89309597C>A	Z00013		2p11.2	2012-02-10			ENSG00000241755	ENSG00000241755		"""Immunoglobulins / IGK locus"""	5744	other	immunoglobulin gene							Standard	NG_000834		Approved	IGKV19, L8			OTTHUMG00000151637		2.37:g.89309597C>A						uc002stl.2_Intron								74		-									RNA	SNP	ENST00000493819.1	37	c.6750G>T																																																																																					PASS	0.498	IGKV1-9-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IG_V_gene	OTTHUMT00000323361.1	NG_000834		164	126	164	126	---	---	---	---
AFF3	3899	broad.mit.edu	37	2	100210742	100210742	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2766-01A-01D-1522-08	TCGA-66-2766-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	452b75d0-1818-46aa-8804-9cfc0bd66449	81a4d615-e95e-4c17-87f7-c06d8dd4975a	g.chr2:100210742C>T	ENST00000409236.2	-	13	1493	c.1381G>A	c.(1381-1383)Gca>Aca	p.A461T	AFF3_ENST00000409579.1_Missense_Mutation_p.A486T|AFF3_ENST00000356421.2_Missense_Mutation_p.A486T|AFF3_ENST00000317233.4_Missense_Mutation_p.A461T			P51826	AFF3_HUMAN	AF4/FMR2 family, member 3	461					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.A486T(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						TTAGAGGATGCCGGTTCAGCC	0.443																																						uc002tag.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|pancreas(1)|lung(1)|kidney(1)|skin(1)	6						c.(1381-1383)GCA>ACA		AF4/FMR2 family, member 3 isoform 1							124.0	137.0	133.0					2																	100210742		2058	4218	6276	SO:0001583	missense	3899				multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	g.chr2:100210742C>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.1381G>A	2.37:g.100210742C>T	ENSP00000387207:p.Ala461Thr					AFF3_uc002taf.2_Missense_Mutation_p.A486T|AFF3_uc010fiq.1_Missense_Mutation_p.A461T|AFF3_uc010yvr.1_Missense_Mutation_p.A614T|AFF3_uc002tah.1_Missense_Mutation_p.A486T	p.A461T	NM_002285	NP_002276	P51826	AFF3_HUMAN			14	1617	-			461					B7ZM46|B9EGL9|D3DVI6|Q53RD6|Q53S47|Q53SI6|Q53TB9|Q59F27|Q8IWJ5	Missense_Mutation	SNP	ENST00000409236.2	37	c.1381G>A	CCDS42723.1	.	.	.	.	.	.	.	.	.	.	C	15.87	2.959682	0.53400	.	.	ENSG00000144218	ENST00000317233;ENST00000356421;ENST00000409579;ENST00000409236;ENST00000433370;ENST00000444786;ENST00000432288	T;T;T;T	0.65732	-0.17;-0.17;-0.17;-0.17	5.87	5.87	0.94306	.	0.205024	0.35207	N	0.003365	T	0.72716	0.3495	L	0.51422	1.61	0.42120	D	0.991429	D;D;D	0.64830	0.994;0.959;0.976	D;P;P	0.66716	0.946;0.721;0.461	T	0.71692	-0.4516	10	0.45353	T	0.12	.	14.3946	0.67003	0.0:0.7418:0.2582:0.0	.	614;461;486	B7Z4I6;P51826;P51826-2	.;AFF3_HUMAN;.	T	461;486;486;461;461;614;486	ENSP00000317421:A461T;ENSP00000348793:A486T;ENSP00000386834:A486T;ENSP00000387207:A461T	ENSP00000317421:A461T	A	-	1	0	AFF3	99577174	1.000000	0.71417	0.491000	0.27477	0.460000	0.32559	5.786000	0.69006	2.781000	0.95711	0.655000	0.94253	GCA		PASS	0.443	AFF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328982.3	NM_002285		5	347	5	347	---	---	---	---
AFF3	3899	broad.mit.edu	37	2	100623800	100623800	+	Silent	SNP	C	C	A			TCGA-66-2766-01A-01D-1522-08	TCGA-66-2766-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	452b75d0-1818-46aa-8804-9cfc0bd66449	81a4d615-e95e-4c17-87f7-c06d8dd4975a	g.chr2:100623800C>A	ENST00000409236.2	-	4	409	c.297G>T	c.(295-297)ggG>ggT	p.G99G	AFF3_ENST00000409579.1_Silent_p.G124G|AFF3_ENST00000356421.2_Silent_p.G124G|AFF3_ENST00000317233.4_Silent_p.G99G			P51826	AFF3_HUMAN	AF4/FMR2 family, member 3	99					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.G124G(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						TCTGAGGAACCCCAGGTTTGG	0.443																																						uc002tag.2																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|pancreas(1)|lung(1)|kidney(1)|skin(1)	6						c.(295-297)GGG>GGT		AF4/FMR2 family, member 3 isoform 1							96.0	104.0	102.0					2																	100623800		2203	4300	6503	SO:0001819	synonymous_variant	3899				multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	g.chr2:100623800C>A	U34360	CCDS33258.1, CCDS42723.1	2q11.2-q12	2008-02-05	2005-06-27	2005-06-27	ENSG00000144218	ENSG00000144218			6473	protein-coding gene	gene with protein product		601464	"""lymphoid nuclear protein related to AF4"""	LAF4		8662235, 8555498	Standard	XM_005263945		Approved	MLLT2-like	uc002taf.3	P51826	OTTHUMG00000153011	ENST00000409236.2:c.297G>T	2.37:g.100623800C>A						AFF3_uc002taf.2_Silent_p.G124G|AFF3_uc010fiq.1_Silent_p.G99G|AFF3_uc010yvr.1_Silent_p.G253G|AFF3_uc002tah.1_Silent_p.G124G|AFF3_uc010fir.1_Silent_p.G176G|AFF3_uc002tai.2_Silent_p.G21G	p.G99G	NM_002285	NP_002276	P51826	AFF3_HUMAN			5	533	-			99					B7ZM46|B9EGL9|D3DVI6|Q53RD6|Q53S47|Q53SI6|Q53TB9|Q59F27|Q8IWJ5	Silent	SNP	ENST00000409236.2	37	c.297G>T	CCDS42723.1																																																																																				PASS	0.443	AFF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328982.3	NM_002285		93	129	93	129	---	---	---	---
GPR45	11250	broad.mit.edu	37	2	105859164	105859164	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2766-01A-01D-1522-08	TCGA-66-2766-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	452b75d0-1818-46aa-8804-9cfc0bd66449	81a4d615-e95e-4c17-87f7-c06d8dd4975a	g.chr2:105859164C>A	ENST00000258456.1	+	1	965	c.849C>A	c.(847-849)caC>caA	p.H283Q		NM_007227.3	NP_009158.3	Q9Y5Y3	GPR45_HUMAN	G protein-coupled receptor 45	283						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.H283Q(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(10)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	28						GGCTGCCCCACTCCGTCTACA	0.582																																						uc002tco.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|breast(1)|central_nervous_system(1)	3						c.(847-849)CAC>CAA		G protein-coupled receptor 45							180.0	172.0	175.0					2																	105859164		2203	4300	6503	SO:0001583	missense	11250					integral to membrane|plasma membrane	G-protein coupled receptor activity|protein binding	g.chr2:105859164C>A	AF118266	CCDS2066.1	2q11.1-q12	2012-08-21			ENSG00000135973	ENSG00000135973		"""GPCR / Class A : Orphans"""	4503	protein-coding gene	gene with protein product		604838				10036181	Standard	NM_007227		Approved	PSP24, PSP24A	uc002tco.1	Q9Y5Y3	OTTHUMG00000130805	ENST00000258456.1:c.849C>A	2.37:g.105859164C>A	ENSP00000258456:p.His283Gln						p.H283Q	NM_007227	NP_009158	Q9Y5Y3	GPR45_HUMAN			1	965	+			283			Helical; Name=6; (Potential).		Q6NWS4|Q6NXU6	Missense_Mutation	SNP	ENST00000258456.1	37	c.849C>A	CCDS2066.1	.	.	.	.	.	.	.	.	.	.	C	12.96	2.093910	0.36952	.	.	ENSG00000135973	ENST00000258456	T	0.71934	-0.61	4.25	2.4	0.29515	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.78142	0.4237	L	0.56769	1.78	0.50632	D	0.999882	D	0.69078	0.997	D	0.68621	0.959	T	0.77613	-0.2522	10	0.72032	D	0.01	-36.333	10.3209	0.43764	0.0:0.8335:0.0:0.1665	.	283	Q9Y5Y3	GPR45_HUMAN	Q	283	ENSP00000258456:H283Q	ENSP00000258456:H283Q	H	+	3	2	GPR45	105225596	1.000000	0.71417	0.423000	0.26634	0.388000	0.30384	1.777000	0.38604	0.524000	0.28502	0.462000	0.41574	CAC		PASS	0.582	GPR45-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253348.1	NM_007227		199	244	199	244	---	---	---	---
RANBP2	5903	broad.mit.edu	37	2	109347290	109347290	+	Silent	SNP	T	T	C			TCGA-66-2766-01A-01D-1522-08	TCGA-66-2766-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	452b75d0-1818-46aa-8804-9cfc0bd66449	81a4d615-e95e-4c17-87f7-c06d8dd4975a	g.chr2:109347290T>C	ENST00000283195.6	+	3	327	c.201T>C	c.(199-201)ggT>ggC	p.G67G		NM_006267.4	NP_006258.3	P49792	RBP2_HUMAN	RAN binding protein 2	67					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 glucokinase activity (GO:0033132)|protein folding (GO:0006457)|protein import into nucleus (GO:0006606)|protein sumoylation (GO:0016925)|regulation of gluconeogenesis involved in cellular glucose homeostasis (GO:0090526)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nuclear inclusion body (GO:0042405)|nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nuclear pore nuclear basket (GO:0044615)	ligase activity (GO:0016874)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)|Ran GTPase binding (GO:0008536)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)	p.G67G(2)	RANBP2/ALK(34)	NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	129						GATTTCTGGGTCTTCTTTATG	0.338																																						uc002tem.3																		RANBP2/ALK(16)	2	Substitution - coding silent(2)		lung(2)	soft_tissue(16)|lung(1)|pancreas(1)	18						c.(199-201)GGT>GGC		RAN binding protein 2							89.0	109.0	101.0					2																	109347290		1460	2532	3992	SO:0001819	synonymous_variant	5903				carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA transport|protein folding|protein import into nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore	peptidyl-prolyl cis-trans isomerase activity|Ran GTPase binding|zinc ion binding	g.chr2:109347290T>C	D42063	CCDS2079.1	2q13	2013-11-14			ENSG00000153201	ENSG00000153201		"""Tetratricopeptide (TTC) repeat domain containing"""	9848	protein-coding gene	gene with protein product		601181	"""acute necrotizing encephalopathy 1 (autosomal dominant)"""	ANE1		7724562, 19118815	Standard	NM_006267		Approved	NUP358, ADANE	uc002tem.4	P49792	OTTHUMG00000130981	ENST00000283195.6:c.201T>C	2.37:g.109347290T>C							p.G67G	NM_006267	NP_006258	P49792	RBP2_HUMAN			3	327	+			67			TPR.		Q13074|Q15280|Q53TE2|Q59FH7	Silent	SNP	ENST00000283195.6	37	c.201T>C	CCDS2079.1																																																																																				PASS	0.338	RANBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253594.1	NM_006267		113	505	113	505	---	---	---	---
AMER3	205147	broad.mit.edu	37	2	131521188	131521188	+	Missense_Mutation	SNP	G	G	A			TCGA-66-2766-01A-01D-1522-08	TCGA-66-2766-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	452b75d0-1818-46aa-8804-9cfc0bd66449	81a4d615-e95e-4c17-87f7-c06d8dd4975a	g.chr2:131521188G>A	ENST00000423981.1	+	2	1653	c.1543G>A	c.(1543-1545)Ggc>Agc	p.G515S	AMER3_ENST00000321420.4_Missense_Mutation_p.G515S	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	515					Wnt signaling pathway (GO:0016055)	plasma membrane (GO:0005886)	lipid binding (GO:0008289)	p.G515S(1)									GCTGCGCCGAGGCCCCACGCC	0.682																																						uc002trw.2																			1	Substitution - Missense(1)		lung(1)	pancreas(2)|ovary(1)	3						c.(1543-1545)GGC>AGC		hypothetical protein LOC205147							7.0	7.0	7.0					2																	131521188		2153	4225	6378	SO:0001583	missense	205147							g.chr2:131521188G>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.1543G>A	2.37:g.131521188G>A	ENSP00000392700:p.Gly515Ser					FAM123C_uc010fmv.2_Missense_Mutation_p.G515S|FAM123C_uc010fms.1_Missense_Mutation_p.G515S|FAM123C_uc010fmt.1_Missense_Mutation_p.G515S|FAM123C_uc010fmu.1_Missense_Mutation_p.G515S	p.G515S	NM_152698	NP_689911	Q8N944	F123C_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.13)	2	1733	+	Colorectal(110;0.1)		515					B7ZLH6	Missense_Mutation	SNP	ENST00000423981.1	37	c.1543G>A	CCDS2164.1	.	.	.	.	.	.	.	.	.	.	G	8.187	0.795206	0.16327	.	.	ENSG00000178171	ENST00000321420;ENST00000423981	T;T	0.44482	0.92;0.92	4.04	0.52	0.17040	.	0.614922	0.14452	N	0.318734	T	0.22551	0.0544	N	0.24115	0.695	0.09310	N	1	B	0.23058	0.079	B	0.15870	0.014	T	0.15464	-1.0436	10	0.23302	T	0.38	.	5.4936	0.16789	0.4494:0.0:0.5506:0.0	.	515	Q8N944	F123C_HUMAN	S	515	ENSP00000314914:G515S;ENSP00000392700:G515S	ENSP00000314914:G515S	G	+	1	0	FAM123C	131237658	0.010000	0.17322	0.179000	0.23059	0.291000	0.27294	0.011000	0.13264	0.298000	0.22638	0.561000	0.74099	GGC		PASS	0.682	AMER3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254531.3	NM_152698		6	8	6	8	---	---	---	---
ARHGEF4	50649	broad.mit.edu	37	2	131801050	131801050	+	Nonsense_Mutation	SNP	C	C	G			TCGA-66-2766-01A-01D-1522-08	TCGA-66-2766-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	452b75d0-1818-46aa-8804-9cfc0bd66449	81a4d615-e95e-4c17-87f7-c06d8dd4975a	g.chr2:131801050C>G	ENST00000326016.5	+	11	2012	c.1493C>G	c.(1492-1494)tCa>tGa	p.S498*	ARHGEF4_ENST00000409303.1_Nonsense_Mutation_p.S438*|ARHGEF4_ENST00000392953.3_Nonsense_Mutation_p.S498*|ARHGEF4_ENST00000428230.2_Intron|ARHGEF4_ENST00000525839.1_Nonsense_Mutation_p.S498*|ARHGEF4_ENST00000355771.3_Nonsense_Mutation_p.S427*	NM_015320.2	NP_056135.2	Q9NR80	ARHG4_HUMAN	Rho guanine nucleotide exchange factor (GEF) 4	498					apoptotic signaling pathway (GO:0097190)|filopodium assembly (GO:0046847)|lamellipodium assembly (GO:0030032)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|positive regulation of Rac GTPase activity (GO:0032855)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell projection (GO:0042995)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	guanyl-nucleotide exchange factor activity (GO:0005085)|protein domain specific binding (GO:0019904)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)	p.S498*(1)		NS(1)|breast(4)|cervix(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(3)|pancreas(1)|prostate(1)|skin(4)	29		Prostate(154;0.055)		BRCA - Breast invasive adenocarcinoma(221;0.097)		GTCAGGAGCTCAGAACTCATC	0.542																																						uc002tsa.1																			1	Substitution - Nonsense(1)		lung(1)	breast(3)|ovary(2)|skin(1)	6						c.(1492-1494)TCA>TGA		Rho guanine nucleotide exchange factor 4 isoform							95.0	87.0	90.0					2																	131801050		2203	4300	6503	SO:0001587	stop_gained	50649				apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|lamellipodium assembly|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|ruffle membrane	protein domain specific binding|Rac guanyl-nucleotide exchange factor activity	g.chr2:131801050C>G	AL137289	CCDS2165.1, CCDS42754.1	2q22	2013-01-10			ENSG00000136002	ENSG00000136002		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	684	protein-coding gene	gene with protein product	"""APC-stimulated guanine nucleotide exchange factor"""	605216				10873612	Standard	NM_015320		Approved	STM6, KIAA1112, ASEF	uc002tsa.1	Q9NR80	OTTHUMG00000131657	ENST00000326016.5:c.1493C>G	2.37:g.131801050C>G	ENSP00000316845:p.Ser498*					ARHGEF4_uc010fmw.1_Intron|ARHGEF4_uc002tsb.1_Nonsense_Mutation_p.S498*|ARHGEF4_uc010fmx.1_Nonsense_Mutation_p.S438*|ARHGEF4_uc002tsc.1_Nonsense_Mutation_p.S41*	p.S498*	NM_015320	NP_056135	Q9NR80	ARHG4_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.097)	11	2013	+		Prostate(154;0.055)	498					Q9HDC6|Q9UPP0	Nonsense_Mutation	SNP	ENST00000326016.5	37	c.1493C>G	CCDS2165.1	.	.	.	.	.	.	.	.	.	.	C	43	10.119491	0.99340	.	.	ENSG00000136002	ENST00000326016;ENST00000392953;ENST00000525839;ENST00000409303;ENST00000355771	.	.	.	5.26	5.26	0.73747	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	16.3608	0.83267	0.0:1.0:0.0:0.0	.	.	.	.	X	498;498;498;438;427	.	ENSP00000316845:S498X	S	+	2	0	ARHGEF4	131517520	1.000000	0.71417	0.981000	0.43875	0.994000	0.84299	7.205000	0.77881	2.449000	0.82847	0.561000	0.74099	TCA		PASS	0.542	ARHGEF4-001	KNOWN	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000254554.4			33	105	33	105	---	---	---	---
UBXN4	23190	broad.mit.edu	37	2	136537796	136537796	+	Missense_Mutation	SNP	A	A	C			TCGA-66-2766-01A-01D-1522-08	TCGA-66-2766-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	452b75d0-1818-46aa-8804-9cfc0bd66449	81a4d615-e95e-4c17-87f7-c06d8dd4975a	g.chr2:136537796A>C	ENST00000272638.9	+	12	1540	c.1229A>C	c.(1228-1230)gAc>gCc	p.D410A	UBXN4_ENST00000490163.1_3'UTR	NM_014607.3	NP_055422.1	Q92575	UBXN4_HUMAN	UBX domain protein 4	410					response to unfolded protein (GO:0006986)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|nucleus (GO:0005634)		p.D410A(1)		NS(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	24						TCCAGCGGAGACATTTGGACC	0.423																																						uc002tur.2																			1	Substitution - Missense(1)		lung(1)	skin(2)	2						c.(1228-1230)GAC>GCC		UBX domain containing 2							182.0	165.0	170.0					2																	136537796		1908	4130	6038	SO:0001583	missense	23190				response to unfolded protein	endoplasmic reticulum membrane|nuclear envelope	protein binding	g.chr2:136537796A>C	D87684	CCDS42761.1	2q21.3-q22.1	2008-07-25	2008-07-25	2008-07-25	ENSG00000144224	ENSG00000144224		"""UBX domain containing"""	14860	protein-coding gene	gene with protein product	"""erasin"""	611216	"""UBX domain-containing 2"", ""UBX domain containing 2"""	UBXDC1, UBXD2		16968747	Standard	NM_014607		Approved	KIAA0242	uc002tur.3	Q92575	OTTHUMG00000153577	ENST00000272638.9:c.1229A>C	2.37:g.136537796A>C	ENSP00000272638:p.Asp410Ala					UBXN4_uc002tus.2_Missense_Mutation_p.D176A|UBXN4_uc002tut.2_Missense_Mutation_p.D46A	p.D410A	NM_014607	NP_055422	Q92575	UBXN4_HUMAN			12	1540	+			410			Cytoplasmic (Potential).		A8K9W4|Q4ZG56|Q8IYM5	Missense_Mutation	SNP	ENST00000272638.9	37	c.1229A>C	CCDS42761.1	.	.	.	.	.	.	.	.	.	.	A	15.38	2.815229	0.50527	.	.	ENSG00000144224	ENST00000272638;ENST00000430594	T	0.44881	0.91	4.88	4.88	0.63580	.	0.109068	0.64402	D	0.000008	T	0.31544	0.0800	L	0.47716	1.5	0.43199	D	0.995045	B	0.19583	0.037	B	0.23018	0.043	T	0.08493	-1.0719	10	0.08179	T	0.78	.	9.2079	0.37300	0.9194:0.0:0.0806:0.0	.	410	Q92575	UBXN4_HUMAN	A	410;392	ENSP00000272638:D410A	ENSP00000272638:D410A	D	+	2	0	UBXN4	136254266	1.000000	0.71417	1.000000	0.80357	0.903000	0.53119	5.112000	0.64634	2.059000	0.61396	0.454000	0.30748	GAC		PASS	0.423	UBXN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331696.1	NM_014607		128	103	128	103	---	---	---	---
THSD7B	80731	broad.mit.edu	37	2	137852569	137852569	+	Silent	SNP	A	A	G			TCGA-66-2766-01A-01D-1522-08	TCGA-66-2766-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	452b75d0-1818-46aa-8804-9cfc0bd66449	81a4d615-e95e-4c17-87f7-c06d8dd4975a	g.chr2:137852569A>G	ENST00000409968.1	+	4	1255	c.1077A>G	c.(1075-1077)ccA>ccG	p.P359P	THSD7B_ENST00000413152.2_Silent_p.P328P|THSD7B_ENST00000543459.1_Silent_p.P218P|THSD7B_ENST00000272643.3_Silent_p.P359P			Q9C0I4	THS7B_HUMAN	thrombospondin, type I, domain containing 7B	359	TSP type-1 4. {ECO:0000255|PROSITE- ProRule:PRU00210}.					integral component of membrane (GO:0016021)		p.P359P(1)|p.P328P(1)		NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	134				BRCA - Breast invasive adenocarcinoma(221;0.19)		GTCTCTTGCCAGGATTTAGGA	0.537																																						uc002tva.1																			2	Substitution - coding silent(2)		lung(2)	ovary(4)|central_nervous_system(2)|pancreas(1)	7						c.(982-984)CCA>CCG		thrombospondin, type I, domain containing 7B							87.0	91.0	89.0					2																	137852569		1897	4129	6026	SO:0001819	synonymous_variant	80731							g.chr2:137852569A>G			2q22.1	2006-11-24			ENSG00000144229	ENSG00000144229			29348	protein-coding gene	gene with protein product						11214970	Standard	NM_001080427		Approved	KIAA1679	uc002tva.1	Q9C0I4	OTTHUMG00000153590	ENST00000409968.1:c.1077A>G	2.37:g.137852569A>G						THSD7B_uc010zbj.1_RNA|THSD7B_uc002tvb.2_Silent_p.P218P	p.P328P	NM_001080427	NP_001073896				BRCA - Breast invasive adenocarcinoma(221;0.19)	3	984	+									Silent	SNP	ENST00000409968.1	37	c.984A>G																																																																																					PASS	0.537	THSD7B-001	NOVEL	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000331769.2	XM_046570.9		74	42	74	42	---	---	---	---
LRP1B	53353	broad.mit.edu	37	2	141264380	141264380	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2766-01A-01D-1522-08	TCGA-66-2766-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	452b75d0-1818-46aa-8804-9cfc0bd66449	81a4d615-e95e-4c17-87f7-c06d8dd4975a	g.chr2:141264380C>T	ENST00000389484.3	-	53	9477	c.8506G>A	c.(8506-8508)Gag>Aag	p.E2836K		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	2836	LDL-receptor class A 18. {ECO:0000255|PROSITE-ProRule:PRU00124}.				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.E2836K(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)		TGCGGTGACTCATCAGAGCCA	0.368										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.(8506-8508)GAG>AAG		low density lipoprotein-related protein 1B							165.0	156.0	159.0					2																	141264380		2203	4300	6503	SO:0001583	missense	53353				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	g.chr2:141264380C>T	AF176832	CCDS2182.1	2q21.2	2013-05-29	2010-01-26		ENSG00000168702	ENSG00000168702		"""Low density lipoprotein receptors"""	6693	protein-coding gene	gene with protein product	"""LRP-deleted in tumors"""	608766				10766186	Standard	NM_018557		Approved	LRP-DIT, LRPDIT	uc002tvj.1	Q9NZR2	OTTHUMG00000131799	ENST00000389484.3:c.8506G>A	2.37:g.141264380C>T	ENSP00000374135:p.Glu2836Lys	TSP Lung(27;0.18)					p.E2836K	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)	53	9478	-		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)	2836			Extracellular (Potential).|LDL-receptor class A 18.		Q8WY29|Q8WY30|Q8WY31	Missense_Mutation	SNP	ENST00000389484.3	37	c.8506G>A	CCDS2182.1	.	.	.	.	.	.	.	.	.	.	C	35	5.497402	0.96355	.	.	ENSG00000168702	ENST00000389484;ENST00000544579	D	0.97924	-4.61	5.65	5.65	0.86999	Low-density lipoprotein (LDL) receptor class A, conserved site (1);	0.000000	0.85682	D	0.000000	D	0.99438	0.9801	H	0.99555	4.625	0.58432	D	0.999999	D	0.76494	0.999	D	0.83275	0.996	D	0.98038	1.0380	10	0.87932	D	0	.	19.7319	0.96186	0.0:1.0:0.0:0.0	.	2836	Q9NZR2	LRP1B_HUMAN	K	2836;2774	ENSP00000374135:E2836K	ENSP00000374135:E2836K	E	-	1	0	LRP1B	140980850	1.000000	0.71417	0.999000	0.59377	0.978000	0.69477	7.684000	0.84104	2.668000	0.90789	0.655000	0.94253	GAG		PASS	0.368	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254736.2	NM_018557		101	259	101	259	---	---	---	---
LRP1B	53353	broad.mit.edu	37	2	141625764	141625764	+	Missense_Mutation	SNP	C	C	G	rs530345893		TCGA-66-2766-01A-01D-1522-08	TCGA-66-2766-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	452b75d0-1818-46aa-8804-9cfc0bd66449	81a4d615-e95e-4c17-87f7-c06d8dd4975a	g.chr2:141625764C>G	ENST00000389484.3	-	26	5209	c.4238G>C	c.(4237-4239)gGg>gCg	p.G1413A		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	1413					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.G1413A(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)		GGTTTTTCTCCCAGCACCACT	0.388										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.(4237-4239)GGG>GCG		low density lipoprotein-related protein 1B							101.0	97.0	98.0					2																	141625764		2203	4300	6503	SO:0001583	missense	53353				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	g.chr2:141625764C>G	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.4238G>C	2.37:g.141625764C>G	ENSP00000374135:p.Gly1413Ala	TSP Lung(27;0.18)				LRP1B_uc010fnl.1_Missense_Mutation_p.G595A	p.G1413A	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)	26	5210	-		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)	1413			Extracellular (Potential).|LDL-receptor class B 11.		Q8WY29|Q8WY30|Q8WY31	Missense_Mutation	SNP	ENST00000389484.3	37	c.4238G>C	CCDS2182.1	.	.	.	.	.	.	.	.	.	.	C	8.617	0.890453	0.17613	.	.	ENSG00000168702	ENST00000389484;ENST00000544579;ENST00000434794	D;D	0.95788	-3.81;-3.81	5.83	1.89	0.25635	Six-bladed beta-propeller, TolB-like (1);	0.382873	0.25774	N	0.028383	D	0.92704	0.7681	L	0.55213	1.73	0.29696	N	0.840512	P;B	0.42296	0.775;0.004	P;B	0.46208	0.507;0.011	D	0.85728	0.1329	10	0.09084	T	0.74	.	8.3648	0.32380	0.0:0.5841:0.2101:0.2058	.	596;1413	Q96NT6;Q9NZR2	.;LRP1B_HUMAN	A	1413;1351;558	ENSP00000374135:G1413A;ENSP00000413239:G558A	ENSP00000374135:G1413A	G	-	2	0	LRP1B	141342234	0.624000	0.27102	0.359000	0.25824	0.765000	0.43378	1.327000	0.33746	-0.133000	0.11537	-0.795000	0.03280	GGG		PASS	0.388	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254736.2	NM_018557		94	91	94	91	---	---	---	---
BAZ2B	29994	broad.mit.edu	37	2	160206824	160206824	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2766-01A-01D-1522-08	TCGA-66-2766-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	452b75d0-1818-46aa-8804-9cfc0bd66449	81a4d615-e95e-4c17-87f7-c06d8dd4975a	g.chr2:160206824C>T	ENST00000392783.2	-	28	4753	c.4258G>A	c.(4258-4260)Gaa>Aaa	p.E1420K	BAZ2B_ENST00000355831.2_Missense_Mutation_p.E1386K|BAZ2B_ENST00000343439.5_Missense_Mutation_p.E1320K|BAZ2B_ENST00000392782.1_Missense_Mutation_p.E1384K	NM_013450.2	NP_038478.2	Q9UIF8	BAZ2B_HUMAN	bromodomain adjacent to zinc finger domain, 2B	1420					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.E1420K(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						TGGACACTTTCTGCCTTTTTC	0.328																																						uc002uao.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|skin(1)	4						c.(4258-4260)GAA>AAA		bromodomain adjacent to zinc finger domain, 2B							84.0	70.0	75.0					2																	160206824		1802	4065	5867	SO:0001583	missense	29994				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding	g.chr2:160206824C>T	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.4258G>A	2.37:g.160206824C>T	ENSP00000376534:p.Glu1420Lys					BAZ2B_uc002uap.2_Missense_Mutation_p.E1384K	p.E1420K	NM_013450	NP_038478	Q9UIF8	BAZ2B_HUMAN			28	4610	-			1420					D3DPA8|Q96EA1|Q96SQ8|Q9P252|Q9Y4N8	Missense_Mutation	SNP	ENST00000392783.2	37	c.4258G>A	CCDS2209.2	.	.	.	.	.	.	.	.	.	.	C	12.17	1.859045	0.32884	.	.	ENSG00000123636	ENST00000392782;ENST00000392783;ENST00000355831;ENST00000343439	T;T;T;T	0.06068	3.35;3.35;3.35;3.35	5.54	4.66	0.58398	.	0.196776	0.24238	N	0.040286	T	0.08088	0.0202	L	0.60455	1.87	0.45366	D	0.998352	B;B	0.29805	0.011;0.257	B;B	0.26614	0.009;0.071	T	0.17440	-1.0369	10	0.28530	T	0.3	-14.7967	11.7876	0.52051	0.0:0.8582:0.0:0.1418	.	1384;1420	Q9UIF8-5;Q9UIF8	.;BAZ2B_HUMAN	K	1384;1420;1386;1320	ENSP00000376533:E1384K;ENSP00000376534:E1420K;ENSP00000348087:E1386K;ENSP00000339670:E1320K	ENSP00000339670:E1320K	E	-	1	0	BAZ2B	159915070	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	3.337000	0.52120	1.478000	0.48253	0.643000	0.83706	GAA		PASS	0.328	BAZ2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255037.2			9	48	9	48	---	---	---	---
MARCH7	64844	broad.mit.edu	37	2	160605213	160605213	+	Missense_Mutation	SNP	G	G	A			TCGA-66-2766-01A-01D-1522-08	TCGA-66-2766-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	452b75d0-1818-46aa-8804-9cfc0bd66449	81a4d615-e95e-4c17-87f7-c06d8dd4975a	g.chr2:160605213G>A	ENST00000259050.4	+	5	1534	c.1412G>A	c.(1411-1413)aGa>aAa	p.R471K	MARCH7_ENST00000409591.1_Missense_Mutation_p.R433K|MARCH7_ENST00000539065.1_Missense_Mutation_p.R415K|MARCH7_ENST00000409175.1_Missense_Mutation_p.R471K	NM_001282805.1|NM_001282807.1|NM_022826.2	NP_001269734.1|NP_001269736.1|NP_073737.1	Q9H992	MARH7_HUMAN	membrane-associated ring finger (C3HC4) 7, E3 ubiquitin protein ligase	471					protein ubiquitination (GO:0016567)		ligase activity (GO:0016874)|zinc ion binding (GO:0008270)	p.R471K(1)		breast(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(3)|prostate(1)|skin(1)|stomach(2)	18						CAAGGTGGAAGAAATACAGGA	0.483																																						uc002uax.2																			1	Substitution - Missense(1)		lung(1)		0						c.(1411-1413)AGA>AAA		axotrophin							168.0	178.0	175.0					2																	160605213		2203	4300	6503	SO:0001583	missense	64844						ligase activity|zinc ion binding	g.chr2:160605213G>A	AK022973	CCDS2210.1, CCDS63038.1, CCDS63039.1	2q24.2	2013-01-09	2012-02-23	2005-01-27	ENSG00000136536	ENSG00000136536		"""MARCH membrane-associated ring fingers"", ""RING-type (C3HC4) zinc fingers"""	17393	protein-coding gene	gene with protein product		613334	"""axotrophin"", ""membrane-associated ring finger (C3HC4) 7"""	AXOT		14722266	Standard	XM_005246773		Approved	MARCH-VII, RNF177	uc002uax.3	Q9H992	OTTHUMG00000132029	ENST00000259050.4:c.1412G>A	2.37:g.160605213G>A	ENSP00000259050:p.Arg471Lys					MARCH7_uc010foq.2_Missense_Mutation_p.R471K|MARCH7_uc010zcn.1_Missense_Mutation_p.R415K|MARCH7_uc010for.2_Missense_Mutation_p.R433K|MARCH7_uc002uay.2_RNA	p.R471K	NM_022826	NP_073737	Q9H992	MARH7_HUMAN			5	1534	+			471					A8K9X1|B7Z7P5|D3DPB0|Q53GQ1|Q9BTR9	Missense_Mutation	SNP	ENST00000259050.4	37	c.1412G>A	CCDS2210.1	.	.	.	.	.	.	.	.	.	.	G	23.3	4.400862	0.83120	.	.	ENSG00000136536	ENST00000409175;ENST00000539065;ENST00000259050;ENST00000409591	T;T;T;T	0.16743	2.32;2.38;2.32;2.32	5.59	5.59	0.84812	.	0.222293	0.44902	D	0.000415	T	0.43344	0.1243	M	0.66939	2.045	0.46927	D	0.99925	D;D;D	0.67145	0.996;0.982;0.982	D;D;D	0.76071	0.987;0.952;0.952	T	0.18840	-1.0324	10	0.56958	D	0.05	-31.3966	19.5833	0.95478	0.0:0.0:1.0:0.0	.	415;433;471	F5H6W4;B7Z7P5;Q9H992	.;.;MARH7_HUMAN	K	471;415;471;433	ENSP00000386830:R471K;ENSP00000442992:R415K;ENSP00000259050:R471K;ENSP00000387238:R433K	ENSP00000259050:R471K	R	+	2	0	MARCH7	160313459	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	5.447000	0.66606	2.612000	0.88384	0.655000	0.94253	AGA		PASS	0.483	MARCH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255040.3	NM_022826		143	357	143	357	---	---	---	---
SCN1A	6323	broad.mit.edu	37	2	166847808	166847808	+	Missense_Mutation	SNP	T	T	C			TCGA-66-2766-01A-01D-1522-08	TCGA-66-2766-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	452b75d0-1818-46aa-8804-9cfc0bd66449	81a4d615-e95e-4c17-87f7-c06d8dd4975a	g.chr2:166847808T>C	ENST00000303395.4	-	26	5976	c.5977A>G	c.(5977-5979)Att>Gtt	p.I1993V	AC010127.3_ENST00000597623.1_RNA|SCN1A_ENST00000409050.1_Missense_Mutation_p.I1965V|AC010127.3_ENST00000595647.1_RNA|SCN1A_ENST00000375405.3_Missense_Mutation_p.I1982V|SCN1A_ENST00000423058.2_Missense_Mutation_p.I1993V			P35498	SCN1A_HUMAN	sodium channel, voltage-gated, type I, alpha subunit	1993					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.I1993V(1)|p.I1982V(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)	TTTTCCACAATTGGCTTTGTC	0.358																																						uc010zcz.1																			2	Substitution - Missense(2)		lung(2)	ovary(6)|skin(6)|large_intestine(1)	13						c.(5944-5946)ATT>GTT		sodium channel, voltage-gated, type I, alpha	Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909)						95.0	92.0	93.0					2																	166847808		2203	4300	6503	SO:0001583	missense	6323					voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr2:166847808T>C	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.5977A>G	2.37:g.166847808T>C	ENSP00000303540:p.Ile1993Val						p.I1982V	NM_006920	NP_008851	P35498	SCN1A_HUMAN			26	5962	-			1993					E9PG49|Q16172|Q585T7|Q8IUJ6|Q96LA3|Q9C008	Missense_Mutation	SNP	ENST00000303395.4	37	c.5944A>G	CCDS54413.1	.	.	.	.	.	.	.	.	.	.	T	5.608	0.297008	0.10622	.	.	ENSG00000144285	ENST00000423058;ENST00000303395;ENST00000375405;ENST00000409050	D;D;D;D	0.95821	-3.82;-3.82;-3.77;-3.76	5.67	3.31	0.37934	.	0.628508	0.15790	N	0.244516	D	0.83353	0.5236	N	0.02011	-0.69	0.26281	N	0.978277	B	0.02656	0.0	B	0.01281	0.0	T	0.72547	-0.4260	10	0.11182	T	0.66	.	7.264	0.26219	0.0:0.3003:0.0:0.6997	.	1982	P35498-2	.	V	1993;1993;1982;1965	ENSP00000407030:I1993V;ENSP00000303540:I1993V;ENSP00000364554:I1982V;ENSP00000386312:I1965V	ENSP00000303540:I1993V	I	-	1	0	SCN1A	166556054	1.000000	0.71417	0.949000	0.38748	0.956000	0.61745	3.737000	0.55060	0.970000	0.38263	0.397000	0.26171	ATT		PASS	0.358	SCN1A-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000102661.1	NM_006920		53	84	53	84	---	---	---	---
SCN1A	6323	broad.mit.edu	37	2	166915146	166915146	+	Missense_Mutation	SNP	G	G	A			TCGA-66-2766-01A-01D-1522-08	TCGA-66-2766-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	452b75d0-1818-46aa-8804-9cfc0bd66449	81a4d615-e95e-4c17-87f7-c06d8dd4975a	g.chr2:166915146G>A	ENST00000303395.4	-	2	316	c.317C>T	c.(316-318)tCt>tTt	p.S106F	AC010127.3_ENST00000599041.1_RNA|AC010127.3_ENST00000595268.1_RNA|SCN1A_ENST00000409050.1_Missense_Mutation_p.S106F|AC010127.3_ENST00000595647.1_RNA|SCN1A_ENST00000375405.3_Missense_Mutation_p.S106F|SCN1A_ENST00000423058.2_Missense_Mutation_p.S106F			P35498	SCN1A_HUMAN	sodium channel, voltage-gated, type I, alpha subunit	106					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.S106F(2)		NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1)	200					Dronedarone(DB04855)|Nitrazepam(DB01595)|Permethrin(DB04930)|Phenacemide(DB01121)|Phenazopyridine(DB01438)|Phenytoin(DB00252)|Topiramate(DB00273)|Valproic Acid(DB00313)|Zonisamide(DB00909)	GTACAGGGCAGAGGTGGCACT	0.338																																						uc010zcz.1																			2	Substitution - Missense(2)		lung(2)	ovary(6)|skin(6)|large_intestine(1)	13						c.(316-318)TCT>TTT		sodium channel, voltage-gated, type I, alpha	Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909)						77.0	74.0	75.0					2																	166915146		2203	4299	6502	SO:0001583	missense	6323					voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr2:166915146G>A	AB093548	CCDS33316.1, CCDS54413.1, CCDS54414.1	2q24.3	2014-09-17	2007-01-23		ENSG00000144285	ENSG00000144285		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10585	protein-coding gene	gene with protein product		182389	"""febrile convulsions 3"""	SCN1, FEB3		8062593, 16382098, 11823106	Standard	NM_006920		Approved	Nav1.1, GEFSP2, HBSCI, NAC1, SMEI	uc021vsb.1	P35498	OTTHUMG00000044173	ENST00000303395.4:c.317C>T	2.37:g.166915146G>A	ENSP00000303540:p.Ser106Phe					SCN1A_uc002udo.3_5'Flank|SCN1A_uc010fpk.2_5'Flank	p.S106F	NM_006920	NP_008851	P35498	SCN1A_HUMAN			2	335	-			106					E9PG49|Q16172|Q585T7|Q8IUJ6|Q96LA3|Q9C008	Missense_Mutation	SNP	ENST00000303395.4	37	c.317C>T	CCDS54413.1	.	.	.	.	.	.	.	.	.	.	G	25.3	4.621016	0.87460	.	.	ENSG00000144285	ENST00000423058;ENST00000303395;ENST00000375405;ENST00000409050	D;D;D;D	0.96365	-3.99;-3.99;-3.94;-3.93	4.28	4.28	0.50868	.	0.200629	0.35677	N	0.003045	D	0.97636	0.9225	M	0.82056	2.57	0.48040	D	0.99957	D	0.56287	0.975	P	0.59761	0.863	D	0.97920	1.0314	10	0.52906	T	0.07	.	17.2522	0.87045	0.0:0.0:1.0:0.0	.	106	P35498-2	.	F	106	ENSP00000407030:S106F;ENSP00000303540:S106F;ENSP00000364554:S106F;ENSP00000386312:S106F	ENSP00000303540:S106F	S	-	2	0	SCN1A	166623392	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.536000	0.98067	2.383000	0.81215	0.491000	0.48974	TCT		PASS	0.338	SCN1A-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000102661.1	NM_006920		62	100	62	100	---	---	---	---
B3GALT1	8708	broad.mit.edu	37	2	168726259	168726259	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2766-01A-01D-1522-08	TCGA-66-2766-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	452b75d0-1818-46aa-8804-9cfc0bd66449	81a4d615-e95e-4c17-87f7-c06d8dd4975a	g.chr2:168726259C>T	ENST00000392690.3	+	1	802	c.710C>T	c.(709-711)tCg>tTg	p.S237L	AC016723.4_ENST00000436982.2_RNA|B3GALT1_ENST00000305861.1_Missense_Mutation_p.S237L|AC016723.4_ENST00000430546.1_RNA			Q9Y5Z6	B3GT1_HUMAN	UDP-Gal:betaGlcNAc beta 1,3-galactosyltransferase, polypeptide 1	237					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.S237L(1)		cervix(1)|endometrium(1)|large_intestine(1)|lung(9)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	18						CCTTTCTGTTCGGGGACTGGC	0.488																																						uc002udz.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)|pancreas(1)|skin(1)	4						c.(709-711)TCG>TTG		UDP-Gal:betaGlcNAc beta							101.0	100.0	100.0					2																	168726259		2203	4300	6503	SO:0001583	missense	8708				lipid glycosylation|protein glycosylation	Golgi membrane|integral to membrane	UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity	g.chr2:168726259C>T	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.710C>T	2.37:g.168726259C>T	ENSP00000376456:p.Ser237Leu						p.S237L	NM_020981	NP_066191	Q9Y5Z6	B3GT1_HUMAN			2	1061	+			237			Lumenal (Potential).		D3DPB8|Q53SS2	Missense_Mutation	SNP	ENST00000392690.3	37	c.710C>T	CCDS2227.1	.	.	.	.	.	.	.	.	.	.	C	26.8	4.776870	0.90195	.	.	ENSG00000172318	ENST00000305861;ENST00000392690	D;D	0.85629	-2.01;-2.01	6.02	6.02	0.97574	.	0.000000	0.85682	D	0.000000	D	0.92548	0.7633	M	0.73598	2.24	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.90971	0.4820	10	0.44086	T	0.13	-8.4493	20.5407	0.99260	0.0:1.0:0.0:0.0	.	237	Q9Y5Z6	B3GT1_HUMAN	L	237	ENSP00000303740:S237L;ENSP00000376456:S237L	ENSP00000303740:S237L	S	+	2	0	B3GALT1	168434505	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.792000	0.85828	2.865000	0.98341	0.655000	0.94253	TCG		PASS	0.488	B3GALT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255211.2	NM_020981		26	135	26	135	---	---	---	---
LRP2	4036	broad.mit.edu	37	2	170070280	170070280	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2766-01A-01D-1522-08	TCGA-66-2766-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	452b75d0-1818-46aa-8804-9cfc0bd66449	81a4d615-e95e-4c17-87f7-c06d8dd4975a	g.chr2:170070280G>T	ENST00000263816.3	-	36	6212	c.5927C>A	c.(5926-5928)aCt>aAt	p.T1976N		NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	1976					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.T1976N(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)"""	CTGTTCATCAGTATAATAAAG	0.428																																						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.(5926-5928)ACT>AAT		low density lipoprotein-related protein 2	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)						112.0	111.0	112.0					2																	170070280		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.chr2:170070280G>T		CCDS2232.1	2q31.1	2013-05-28	2010-01-26		ENSG00000081479	ENSG00000081479		"""Low density lipoprotein receptors"""	6694	protein-coding gene	gene with protein product	"""megalin"""	600073				7959795	Standard	NM_004525		Approved	gp330, DBS	uc002ues.3	P98164	OTTHUMG00000132179	ENST00000263816.3:c.5927C>A	2.37:g.170070280G>T	ENSP00000263816:p.Thr1976Asn						p.T1976N	NM_004525	NP_004516	P98164	LRP2_HUMAN		STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	36	6140	-			1976			LDL-receptor class B 19.|Extracellular (Potential).		O00711|Q16215	Missense_Mutation	SNP	ENST00000263816.3	37	c.5927C>A	CCDS2232.1	.	.	.	.	.	.	.	.	.	.	G	8.245	0.807749	0.16467	.	.	ENSG00000081479	ENST00000263816	D	0.92249	-3.0	5.96	1.98	0.26296	Six-bladed beta-propeller, TolB-like (1);	0.756419	0.13283	N	0.399637	D	0.93628	0.7965	M	0.92555	3.32	0.80722	D	1	B	0.19706	0.038	B	0.20577	0.03	D	0.88275	0.2932	10	0.19147	T	0.46	.	18.2569	0.90022	0.0:0.4539:0.5461:0.0	.	1976	P98164	LRP2_HUMAN	N	1976	ENSP00000263816:T1976N	ENSP00000263816:T1976N	T	-	2	0	LRP2	169778526	0.752000	0.28338	0.028000	0.17463	0.022000	0.10575	3.258000	0.51507	0.086000	0.17137	-0.974000	0.02594	ACT		PASS	0.428	LRP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255231.2	NM_004525		132	181	132	181	---	---	---	---
LRP2	4036	broad.mit.edu	37	2	170135900	170135900	+	Missense_Mutation	SNP	G	G	A			TCGA-66-2766-01A-01D-1522-08	TCGA-66-2766-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	452b75d0-1818-46aa-8804-9cfc0bd66449	81a4d615-e95e-4c17-87f7-c06d8dd4975a	g.chr2:170135900G>A	ENST00000263816.3	-	12	1832	c.1547C>T	c.(1546-1548)gCc>gTc	p.A516V	LRP2_ENST00000443831.1_Missense_Mutation_p.A516V	NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	516					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.A516V(2)		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)"""	TGGGTCCACGGCAATTCCTCT	0.403																																						uc002ues.2																			2	Substitution - Missense(2)		lung(2)	ovary(13)|skin(6)|central_nervous_system(4)|large_intestine(3)|kidney(2)|pancreas(1)	29						c.(1546-1548)GCC>GTC		low density lipoprotein-related protein 2	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)						86.0	89.0	88.0					2																	170135900		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.chr2:170135900G>A		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.1547C>T	2.37:g.170135900G>A	ENSP00000263816:p.Ala516Val					LRP2_uc010zdf.1_Missense_Mutation_p.A516V	p.A516V	NM_004525	NP_004516	P98164	LRP2_HUMAN		STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	12	1760	-			516			LDL-receptor class B 2.|Extracellular (Potential).		O00711|Q16215	Missense_Mutation	SNP	ENST00000263816.3	37	c.1547C>T	CCDS2232.1	.	.	.	.	.	.	.	.	.	.	G	24.5	4.542772	0.85917	.	.	ENSG00000081479	ENST00000263816;ENST00000443831	D;D	0.97665	-4.48;-4.48	5.58	5.58	0.84498	Six-bladed beta-propeller, TolB-like (1);	0.000000	0.85682	D	0.000000	D	0.97081	0.9046	N	0.26042	0.785	0.37032	D	0.896738	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	D	0.97636	1.0145	9	.	.	.	.	19.5773	0.95450	0.0:0.0:1.0:0.0	.	516;516	E9PC35;P98164	.;LRP2_HUMAN	V	516	ENSP00000263816:A516V;ENSP00000409813:A516V	.	A	-	2	0	LRP2	169844146	1.000000	0.71417	0.882000	0.34594	0.972000	0.66771	9.781000	0.99029	2.643000	0.89663	0.650000	0.86243	GCC		PASS	0.403	LRP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255231.2	NM_004525		5	229	5	229	---	---	---	---
NFE2L2	4780	broad.mit.edu	37	2	178098953	178098953	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2766-01A-01D-1522-08	TCGA-66-2766-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	452b75d0-1818-46aa-8804-9cfc0bd66449	81a4d615-e95e-4c17-87f7-c06d8dd4975a	g.chr2:178098953C>G	ENST00000397062.3	-	2	646	c.92G>C	c.(91-93)gGa>gCa	p.G31A	NFE2L2_ENST00000423513.1_Missense_Mutation_p.G15A|NFE2L2_ENST00000446151.2_Missense_Mutation_p.G15A|NFE2L2_ENST00000464747.1_Missense_Mutation_p.G15A|NFE2L2_ENST00000397063.4_Missense_Mutation_p.G15A	NM_006164.4	NP_006155.2	Q16236	NF2L2_HUMAN	nuclear factor, erythroid 2-like 2	31					cellular response to hydrogen peroxide (GO:0070301)|cellular response to laminar fluid shear stress (GO:0071499)|cellular response to tumor necrosis factor (GO:0071356)|endoplasmic reticulum unfolded protein response (GO:0030968)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902176)|positive regulation of blood coagulation (GO:0030194)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter in response to stress (GO:0036003)|proteasomal ubiquitin-independent protein catabolic process (GO:0010499)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein ubiquitination (GO:0016567)|regulation of embryonic development (GO:0045995)|regulation of removal of superoxide radicals (GO:2000121)|transcription from RNA polymerase II promoter (GO:0006366)	centrosome (GO:0005813)|chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|protein domain specific binding (GO:0019904)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.G31A(5)		central_nervous_system(1)|cervix(4)|endometrium(14)|kidney(5)|large_intestine(4)|liver(13)|lung(71)|oesophagus(29)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	158			Epithelial(96;0.00442)|OV - Ovarian serous cystadenocarcinoma(117;0.00739)|all cancers(119;0.0195)|LUSC - Lung squamous cell carcinoma(2;0.036)|Lung(16;0.0935)			TCGACTTACTCCAAGATCTAT	0.363			Mis		"""NSCLC, HNSCC"""					HNSCC(56;0.16)																												uc002ulh.3				Dom	yes		2	2q31	4780	Mis	nuclear factor (erythroid-derived 2)-like 2 (NRF2)			E			NSCLC|HNSCC		5	Substitution - Missense(5)	p.G31R(1)	lung(3)|oesophagus(1)|skin(1)	central_nervous_system(1)	1						c.(91-93)GGA>GCA		nuclear factor erythroid 2-like 2 isoform 1							70.0	63.0	65.0					2																	178098953		1841	4101	5942	SO:0001583	missense	4780				transcription from RNA polymerase II promoter	centrosome|cytosol|nucleus|plasma membrane	protein dimerization activity|protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr2:178098953C>G		CCDS42782.1, CCDS46457.1, CCDS46458.1	2q31	2013-08-23	2013-08-23		ENSG00000116044	ENSG00000116044		"""basic leucine zipper proteins"""	7782	protein-coding gene	gene with protein product	"""NF-E2-related factor 2"""	600492	"""nuclear factor (erythroid-derived 2)-like 2"""			7937919	Standard	NM_006164		Approved	NRF2	uc002ulh.5	Q16236	OTTHUMG00000133620	ENST00000397062.3:c.92G>C	2.37:g.178098953C>G	ENSP00000380252:p.Gly31Ala	HNSCC(56;0.16)				NFE2L2_uc002ulg.3_Missense_Mutation_p.G15A|NFE2L2_uc010zfa.1_Missense_Mutation_p.G15A|NFE2L2_uc002uli.3_Missense_Mutation_p.G15A|NFE2L2_uc010fra.2_Missense_Mutation_p.G15A|NFE2L2_uc010frb.2_Missense_Mutation_p.G15A	p.G31A	NM_006164	NP_006155	Q16236	NF2L2_HUMAN	Epithelial(96;0.00442)|OV - Ovarian serous cystadenocarcinoma(117;0.00739)|all cancers(119;0.0195)|LUSC - Lung squamous cell carcinoma(2;0.036)|Lung(16;0.0935)		2	647	-			31					B2RBU2|B4E338|E9PGJ7|Q53RW6|Q59HH2|Q96F71	Missense_Mutation	SNP	ENST00000397062.3	37	c.92G>C	CCDS42782.1	.	.	.	.	.	.	.	.	.	.	C	21.8	4.199409	0.79015	.	.	ENSG00000116044	ENST00000397063;ENST00000397062;ENST00000446151;ENST00000449627;ENST00000448782;ENST00000421929;ENST00000423513	T;T;T;T;T;T;T	0.32753	1.44;1.44;1.44;1.44;1.44;1.44;1.44	5.78	5.78	0.91487	.	0.000000	0.85682	D	0.000000	T	0.64327	0.2588	M	0.87180	2.865	0.80722	D	1	D;D;D;D	0.89917	1.0;0.999;1.0;1.0	D;D;D;D	0.91635	0.998;0.997;0.999;0.998	T	0.69087	-0.5238	10	0.87932	D	0	.	19.9976	0.97389	0.0:1.0:0.0:0.0	.	15;15;15;31	E9PGJ7;B4DNB0;C9JFL6;Q16236	.;.;.;NF2L2_HUMAN	A	15;31;15;15;15;15;15	ENSP00000380253:G15A;ENSP00000380252:G31A;ENSP00000411575:G15A;ENSP00000391590:G15A;ENSP00000400073:G15A;ENSP00000412191:G15A;ENSP00000410015:G15A	ENSP00000380252:G31A	G	-	2	0	NFE2L2	177807199	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	5.764000	0.68826	2.737000	0.93849	0.563000	0.77884	GGA		PASS	0.363	NFE2L2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000257752.4	NM_006164		50	42	50	42	---	---	---	---
TTN	7273	broad.mit.edu	37	2	179438157	179438157	+	Silent	SNP	A	A	T			TCGA-66-2766-01A-01D-1522-08	TCGA-66-2766-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	452b75d0-1818-46aa-8804-9cfc0bd66449	81a4d615-e95e-4c17-87f7-c06d8dd4975a	g.chr2:179438157A>T	ENST00000591111.1	-	276	68003	c.67779T>A	c.(67777-67779)atT>atA	p.I22593I	TTN_ENST00000342175.6_Silent_p.I15361I|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000460472.2_Silent_p.I15169I|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000359218.5_Silent_p.I15294I|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000589042.1_Silent_p.I24234I|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000342992.6_Silent_p.I21666I|TTN-AS1_ENST00000585451.1_RNA			Q8WZ42	TITIN_HUMAN	titin	22593	Fibronectin type-III 64. {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.I21664I(1)|p.I15294I(1)|p.I15361I(1)|p.I21666I(1)|p.I15169I(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)			AATCTTTAGTAATAGTTGTCA	0.463																																						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.(64996-64998)ATT>ATA		titin isoform N2-A							82.0	81.0	81.0					2																	179438157		1902	4116	6018	SO:0001819	synonymous_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179438157A>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.67779T>A	2.37:g.179438157A>T						uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Silent_p.I15361I|TTN_uc010zfi.1_Silent_p.I15294I|TTN_uc010zfj.1_Silent_p.I15169I	p.I21666I	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		275	65222	-			22593					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.64998T>A																																																																																					PASS	0.463	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		102	125	102	125	---	---	---	---
TTN	7273	broad.mit.edu	37	2	179574553	179574553	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2766-01A-01D-1522-08	TCGA-66-2766-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	452b75d0-1818-46aa-8804-9cfc0bd66449	81a4d615-e95e-4c17-87f7-c06d8dd4975a	g.chr2:179574553C>G	ENST00000591111.1	-	97	27766	c.27542G>C	c.(27541-27543)aGa>aCa	p.R9181T	TTN_ENST00000342175.6_Intron|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.R9498T|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.R8254T|TTN-AS1_ENST00000585451.1_RNA			Q8WZ42	TITIN_HUMAN	titin	13306	Ig-like 75.				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.R8254T(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)			CTCTGAGAGTCTTTTAGTGAA	0.388																																						uc010zfg.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.(24760-24762)AGA>ACA		titin isoform N2-A							76.0	76.0	76.0					2																	179574553		1812	4074	5886	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179574553C>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.27542G>C	2.37:g.179574553C>G	ENSP00000465570:p.Arg9181Thr					TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.R4915T	p.R8254T	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		96	24985	-			9181					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.24761G>C		.	.	.	.	.	.	.	.	.	.	C	13.63	2.294423	0.40594	.	.	ENSG00000155657	ENST00000342992	T	0.66638	-0.22	5.91	4.75	0.60458	Immunoglobulin I-set (1);Immunoglobulin-like (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.58104	0.2099	L	0.38175	1.15	0.80722	D	1	B	0.17852	0.024	B	0.21917	0.037	T	0.55909	-0.8066	9	0.87932	D	0	.	12.1979	0.54309	0.0:0.0665:0.0:0.9335	.	9181	Q8WZ42	TITIN_HUMAN	T	8254	ENSP00000343764:R8254T	ENSP00000343764:R8254T	R	-	2	0	TTN	179282798	1.000000	0.71417	0.980000	0.43619	0.975000	0.68041	4.282000	0.58971	1.045000	0.40225	-0.294000	0.09567	AGA		PASS	0.388	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		38	136	38	136	---	---	---	---
TTN	7273	broad.mit.edu	37	2	179590299	179590299	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2766-01A-01D-1522-08	TCGA-66-2766-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	452b75d0-1818-46aa-8804-9cfc0bd66449	81a4d615-e95e-4c17-87f7-c06d8dd4975a	g.chr2:179590299C>G	ENST00000591111.1	-	69	19905	c.19681G>C	c.(19681-19683)Gaa>Caa	p.E6561Q	TTN_ENST00000342175.6_Intron|TTN_ENST00000460472.2_Intron|RP11-171I2.1_ENST00000590024.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000589042.1_Missense_Mutation_p.E6878Q|TTN_ENST00000342992.6_Missense_Mutation_p.E5634Q|TTN-AS1_ENST00000585451.1_RNA			Q8WZ42	TITIN_HUMAN	titin	12164	Ig-like 47.				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.E5634Q(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)			TGGGCGCCTTCTATGGATGCT	0.433																																						uc010zfg.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.(16900-16902)GAA>CAA		titin isoform N2-A							99.0	90.0	93.0					2																	179590299		1844	4103	5947	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179590299C>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.19681G>C	2.37:g.179590299C>G	ENSP00000465570:p.Glu6561Gln					TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.E2295Q	p.E5634Q	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		68	17124	-			6561					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.16900G>C		.	.	.	.	.	.	.	.	.	.	C	13.93	2.384499	0.42308	.	.	ENSG00000155657	ENST00000342992	T	0.68479	-0.33	5.86	5.86	0.93980	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.78868	0.4351	M	0.73319	2.225	0.80722	D	1	D	0.53619	0.961	P	0.54924	0.764	T	0.79692	-0.1697	9	0.87932	D	0	.	20.5632	0.99335	0.0:1.0:0.0:0.0	.	6561	Q8WZ42	TITIN_HUMAN	Q	5634	ENSP00000343764:E5634Q	ENSP00000343764:E5634Q	E	-	1	0	TTN	179298544	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.007000	0.49536	2.937000	0.99478	0.650000	0.86243	GAA		PASS	0.433	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		54	67	54	67	---	---	---	---
UBE2E3	10477	broad.mit.edu	37	2	181846838	181846838	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2766-01A-01D-1522-08	TCGA-66-2766-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	452b75d0-1818-46aa-8804-9cfc0bd66449	81a4d615-e95e-4c17-87f7-c06d8dd4975a	g.chr2:181846838C>A	ENST00000410062.4	+	2	462	c.69C>A	c.(67-69)gaC>gaA	p.D23E	UBE2E3_ENST00000602475.1_Missense_Mutation_p.D23E|UBE2E3_ENST00000392415.2_Missense_Mutation_p.D23E|UBE2E3_ENST00000602710.1_Missense_Mutation_p.D23E|UBE2E3_ENST00000602632.1_Missense_Mutation_p.D23E|AC104076.3_ENST00000428080.1_RNA|UBE2E3_ENST00000602959.1_Missense_Mutation_p.D23E	NM_006357.2	NP_006348.1	Q969T4	UB2E3_HUMAN	ubiquitin-conjugating enzyme E2E 3	23					protein K11-linked ubiquitination (GO:0070979)|protein K48-linked ubiquitination (GO:0070936)|protein K63-linked ubiquitination (GO:0070534)|regulation of growth (GO:0040008)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	acid-amino acid ligase activity (GO:0016881)|ATP binding (GO:0005524)|ubiquitin-protein transferase activity (GO:0004842)	p.D23E(1)		breast(2)|endometrium(3)|lung(4)|ovary(1)|skin(1)	11						CAGATGCGGACCAGCGAGACC	0.498																																						uc002unq.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(67-69)GAC>GAA		ubiquitin-conjugating enzyme E2E 3							35.0	43.0	40.0					2																	181846838		2202	4279	6481	SO:0001583	missense	10477				protein K11-linked ubiquitination|protein K48-linked ubiquitination|protein K63-linked ubiquitination|regulation of growth	cytoplasm|nucleolus	ATP binding|protein binding|ubiquitin-protein ligase activity	g.chr2:181846838C>A	AB017644	CCDS2282.1	2q31.3	2011-05-19	2011-05-19		ENSG00000170035	ENSG00000170035		"""Ubiquitin-conjugating enzymes E2"""	12479	protein-coding gene	gene with protein product		604151	"""ubiquitin-conjugating enzyme E2E 3 (homologous to yeast UBC4/5)"", ""ubiquitin-conjugating enzyme E2E 3 (UBC4/5 homolog, yeast)"""			10343118	Standard	NM_006357		Approved	UbcH9	uc002unq.1	Q969T4	OTTHUMG00000132585	ENST00000410062.4:c.69C>A	2.37:g.181846838C>A	ENSP00000386788:p.Asp23Glu					UBE2E3_uc002unr.1_Missense_Mutation_p.D23E|UBE2E3_uc010fri.1_Missense_Mutation_p.D23E	p.D23E	NM_182678	NP_872619	Q969T4	UB2E3_HUMAN			3	288	+			23					B2RAD6|D3DPG3|Q5U0R7|Q7Z4W4	Missense_Mutation	SNP	ENST00000410062.4	37	c.69C>A	CCDS2282.1	.	.	.	.	.	.	.	.	.	.	C	15.57	2.871360	0.51695	.	.	ENSG00000170035	ENST00000430956;ENST00000410114;ENST00000411535;ENST00000392415;ENST00000414657;ENST00000410062;ENST00000409513;ENST00000426294;ENST00000409247;ENST00000409596	T;T	0.70164	-0.46;-0.46	5.15	2.89	0.33648	.	0.000000	0.64402	D	0.000001	T	0.49813	0.1579	L	0.27053	0.805	0.39505	D	0.968266	B	0.02656	0.0	B	0.04013	0.001	T	0.44922	-0.9296	10	0.25106	T	0.35	.	11.2998	0.49298	0.0:0.7542:0.0:0.2458	.	23	Q969T4	UB2E3_HUMAN	E	23	ENSP00000376215:D23E;ENSP00000386788:D23E	ENSP00000376215:D23E	D	+	3	2	UBE2E3	181555083	1.000000	0.71417	0.999000	0.59377	0.999000	0.98932	0.614000	0.24314	1.268000	0.44264	0.655000	0.94253	GAC		PASS	0.498	UBE2E3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255795.6	NM_006357		32	49	32	49	---	---	---	---
UBE2E3	10477	broad.mit.edu	37	2	181927582	181927582	+	Silent	SNP	A	A	T			TCGA-66-2766-01A-01D-1522-08	TCGA-66-2766-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	452b75d0-1818-46aa-8804-9cfc0bd66449	81a4d615-e95e-4c17-87f7-c06d8dd4975a	g.chr2:181927582A>T	ENST00000410062.4	+	6	984	c.591A>T	c.(589-591)atA>atT	p.I197I	UBE2E3_ENST00000392415.2_Silent_p.I197I|UBE2E3_ENST00000602710.1_Silent_p.I197I|UBE2E3_ENST00000602959.1_Silent_p.I197I|UBE2E3_ENST00000602837.1_3'UTR	NM_006357.2	NP_006348.1	Q969T4	UB2E3_HUMAN	ubiquitin-conjugating enzyme E2E 3	197					protein K11-linked ubiquitination (GO:0070979)|protein K48-linked ubiquitination (GO:0070936)|protein K63-linked ubiquitination (GO:0070534)|regulation of growth (GO:0040008)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	acid-amino acid ligase activity (GO:0016881)|ATP binding (GO:0005524)|ubiquitin-protein transferase activity (GO:0004842)	p.I197I(1)		breast(2)|endometrium(3)|lung(4)|ovary(1)|skin(1)	11						ACGACAGGATAGCCAGACAGT	0.423																																						uc002unq.1																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(589-591)ATA>ATT		ubiquitin-conjugating enzyme E2E 3							108.0	94.0	99.0					2																	181927582		2203	4299	6502	SO:0001819	synonymous_variant	10477				protein K11-linked ubiquitination|protein K48-linked ubiquitination|protein K63-linked ubiquitination|regulation of growth	cytoplasm|nucleolus	ATP binding|protein binding|ubiquitin-protein ligase activity	g.chr2:181927582A>T	AB017644	CCDS2282.1	2q31.3	2011-05-19	2011-05-19		ENSG00000170035	ENSG00000170035		"""Ubiquitin-conjugating enzymes E2"""	12479	protein-coding gene	gene with protein product		604151	"""ubiquitin-conjugating enzyme E2E 3 (homologous to yeast UBC4/5)"", ""ubiquitin-conjugating enzyme E2E 3 (UBC4/5 homolog, yeast)"""			10343118	Standard	NM_006357		Approved	UbcH9	uc002unq.1	Q969T4	OTTHUMG00000132585	ENST00000410062.4:c.591A>T	2.37:g.181927582A>T						UBE2E3_uc002unr.1_Silent_p.I197I|UBE2E3_uc010fri.1_Silent_p.I197I	p.I197I	NM_182678	NP_872619	Q969T4	UB2E3_HUMAN			7	810	+			197					B2RAD6|D3DPG3|Q5U0R7|Q7Z4W4	Silent	SNP	ENST00000410062.4	37	c.591A>T	CCDS2282.1																																																																																				PASS	0.423	UBE2E3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255795.6	NM_006357		21	37	21	37	---	---	---	---
NCKAP1	10787	broad.mit.edu	37	2	183822189	183822189	+	Missense_Mutation	SNP	T	T	C	rs539348311		TCGA-66-2766-01A-01D-1522-08	TCGA-66-2766-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	452b75d0-1818-46aa-8804-9cfc0bd66449	81a4d615-e95e-4c17-87f7-c06d8dd4975a	g.chr2:183822189T>C	ENST00000361354.4	-	19	2389	c.2017A>G	c.(2017-2019)Acc>Gcc	p.T673A	NCKAP1_ENST00000360982.2_Missense_Mutation_p.T679A	NM_013436.3	NP_038464.1	Q9Y2A7	NCKP1_HUMAN	NCK-associated protein 1	673					apical protein localization (GO:0045176)|apoptotic process (GO:0006915)|basal protein localization (GO:0045175)|central nervous system development (GO:0007417)|embryonic body morphogenesis (GO:0010172)|embryonic foregut morphogenesis (GO:0048617)|embryonic heart tube development (GO:0035050)|endoderm development (GO:0007492)|establishment or maintenance of actin cytoskeleton polarity (GO:0030950)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|lamellipodium assembly (GO:0030032)|mesodermal cell migration (GO:0008078)|neural tube closure (GO:0001843)|notochord morphogenesis (GO:0048570)|paraxial mesoderm morphogenesis (GO:0048340)|positive regulation of Arp2/3 complex-mediated actin nucleation (GO:2000601)|positive regulation of lamellipodium assembly (GO:0010592)|protein stabilization (GO:0050821)|Rac protein signal transduction (GO:0016601)|regulation of protein localization (GO:0032880)|somitogenesis (GO:0001756)|zygotic determination of anterior/posterior axis, embryo (GO:0007354)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|SCAR complex (GO:0031209)	protein complex binding (GO:0032403)	p.T679A(1)		breast(3)|cervix(2)|endometrium(3)|kidney(4)|large_intestine(11)|lung(16)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	45			OV - Ovarian serous cystadenocarcinoma(117;0.0942)|Epithelial(96;0.209)			ACTTACTTGGTCACAACCAGC	0.353																																						uc002upc.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(2017-2019)ACC>GCC		NCK-associated protein 1 isoform 1							168.0	167.0	167.0					2																	183822189		2203	4300	6503	SO:0001583	missense	10787				apoptosis|central nervous system development	integral to membrane|lamellipodium membrane	protein binding	g.chr2:183822189T>C	AB014509	CCDS2287.1, CCDS2288.1	2q32	2009-08-14			ENSG00000061676	ENSG00000061676			7666	protein-coding gene	gene with protein product		604891				10673335, 12181570, 9344857	Standard	NM_013436		Approved	Nap1, HEM2, NAP125	uc002upb.4	Q9Y2A7	OTTHUMG00000132623	ENST00000361354.4:c.2017A>G	2.37:g.183822189T>C	ENSP00000355348:p.Thr673Ala					NCKAP1_uc002upb.2_Missense_Mutation_p.T679A	p.T673A	NM_013436	NP_038464	Q9Y2A7	NCKP1_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0942)|Epithelial(96;0.209)		19	2419	-			673					O60329|Q53QN5|Q53S94|Q53Y35	Missense_Mutation	SNP	ENST00000361354.4	37	c.2017A>G	CCDS2287.1	.	.	.	.	.	.	.	.	.	.	T	21.8	4.198131	0.79015	.	.	ENSG00000061676	ENST00000361354;ENST00000360982	T;T	0.35048	1.33;1.33	5.39	5.39	0.77823	.	0.000000	0.85682	D	0.000000	T	0.50514	0.1620	M	0.80508	2.5	0.80722	D	1	P;P	0.48911	0.917;0.898	P;B	0.47941	0.562;0.426	T	0.58853	-0.7563	10	0.62326	D	0.03	.	15.4103	0.74914	0.0:0.0:0.0:1.0	.	673;679	Q9Y2A7;Q9Y2A7-2	NCKP1_HUMAN;.	A	673;679	ENSP00000355348:T673A;ENSP00000354251:T679A	ENSP00000354251:T679A	T	-	1	0	NCKAP1	183530434	1.000000	0.71417	1.000000	0.80357	0.731000	0.41821	7.993000	0.88291	2.040000	0.60383	0.533000	0.62120	ACC		PASS	0.353	NCKAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255867.2	NM_205842		159	212	159	212	---	---	---	---
FSIP2	401024	broad.mit.edu	37	2	186697939	186697939	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2766-01A-01D-1522-08	TCGA-66-2766-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	452b75d0-1818-46aa-8804-9cfc0bd66449	81a4d615-e95e-4c17-87f7-c06d8dd4975a	g.chr2:186697939C>A	ENST00000424728.1	+	23	20710	c.20710C>A	c.(20710-20712)Cag>Aag	p.Q6904K	FSIP2_ENST00000343098.5_Missense_Mutation_p.Q6993K			Q5CZC0	FSIP2_HUMAN	fibrous sheath interacting protein 2	6904								p.Q1602K(2)		NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(11)|lung(46)|pancreas(1)|urinary_tract(2)	69						ACCAGCTCACCAGGATGAACA	0.333																																						uc002upm.2																			2	Substitution - Missense(2)		lung(2)										Homo sapiens cDNA FLJ44048 fis, clone TESTI4030669.							86.0	79.0	82.0					2																	186697939		1865	4111	5976	SO:0001583	missense	0							g.chr2:186697939C>A	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.20710C>A	2.37:g.186697939C>A	ENSP00000401306:p.Gln6904Lys					uc010zfu.1_Missense_Mutation_p.Q1402K								7		+								Q53TL3|Q53TN5|Q5HYH2|Q6ZTZ5|Q6ZU14|Q6ZU21	RNA	SNP	ENST00000424728.1	37	c.3792C>A		.	.	.	.	.	.	.	.	.	.	C	8.813	0.935815	0.18206	.	.	ENSG00000188738	ENST00000343098;ENST00000424728	T;T	0.49720	0.77;0.78	4.72	2.94	0.34122	.	0.184142	0.26528	N	0.023874	T	0.35068	0.0919	N	0.19112	0.55	0.09310	N	1	.	.	.	.	.	.	T	0.23261	-1.0193	8	0.59425	D	0.04	.	8.7174	0.34419	0.1661:0.6736:0.1603:0.0	.	.	.	.	K	6993;6904	ENSP00000344403:Q6993K;ENSP00000401306:Q6904K	ENSP00000344403:Q6993K	Q	+	1	0	FSIP2	186406184	0.001000	0.12720	0.028000	0.17463	0.002000	0.02628	0.103000	0.15292	0.557000	0.29117	-2.196000	0.00310	CAG		PASS	0.333	FSIP2-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000332778.3	NM_173651		62	95	62	95	---	---	---	---
CLK1	1195	broad.mit.edu	37	2	201726069	201726069	+	Missense_Mutation	SNP	T	T	G			TCGA-66-2766-01A-01D-1522-08	TCGA-66-2766-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	452b75d0-1818-46aa-8804-9cfc0bd66449	81a4d615-e95e-4c17-87f7-c06d8dd4975a	g.chr2:201726069T>G	ENST00000321356.4	-	3	417	c.282A>C	c.(280-282)gaA>gaC	p.E94D	CLK1_ENST00000492793.1_5'UTR|CLK1_ENST00000434813.2_Missense_Mutation_p.E136D|Y_RNA_ENST00000516950.1_RNA	NM_004071.3	NP_004062.2	P49759	CLK1_HUMAN	CDC-like kinase 1	94					cell proliferation (GO:0008283)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|protein autophosphorylation (GO:0046777)|regulation of RNA splicing (GO:0043484)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)	p.E94D(1)|p.E136D(1)		NS(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(12)|ovary(1)|pancreas(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	33						GATACCGGCTTTCATGGTCTC	0.408																																						uc002uwe.2																			2	Substitution - Missense(2)		lung(2)	pancreas(2)	2						c.(280-282)GAA>GAC		CDC-like kinase 1 isoform 1							173.0	171.0	172.0					2																	201726069		2203	4300	6503	SO:0001583	missense	1195				cell proliferation	nucleus	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein serine/threonine kinase activity	g.chr2:201726069T>G	L29219	CCDS2331.1, CCDS54427.1	2q33	2008-05-02			ENSG00000013441	ENSG00000013441		"""CDC-like kinases"""	2068	protein-coding gene	gene with protein product		601951				9856501	Standard	NM_004071		Approved		uc002uwe.2	P49759	OTTHUMG00000132784	ENST00000321356.4:c.282A>C	2.37:g.201726069T>G	ENSP00000326830:p.Glu94Asp					CLK1_uc010zhi.1_Missense_Mutation_p.E136D|CLK1_uc002uwf.2_5'UTR|CLK1_uc002uwg.2_5'UTR|CLK1_uc010fsv.2_RNA	p.E94D	NM_004071	NP_004062	P49759	CLK1_HUMAN			3	463	-			94					B4DFW7|Q0P694|Q8N5V8	Missense_Mutation	SNP	ENST00000321356.4	37	c.282A>C	CCDS2331.1	.	.	.	.	.	.	.	.	.	.	T	8.725	0.915384	0.17907	.	.	ENSG00000013441	ENST00000321356;ENST00000357369;ENST00000434813	T;T	0.67345	-0.22;-0.26	4.66	2.29	0.28610	.	0.410432	0.26761	N	0.022640	T	0.48696	0.1514	L	0.39898	1.24	0.25683	N	0.985775	B;B	0.12013	0.005;0.002	B;B	0.11329	0.006;0.002	T	0.19192	-1.0313	10	0.17832	T	0.49	.	4.4835	0.11778	0.0:0.1831:0.1693:0.6476	.	136;94	B4DFW7;P49759	.;CLK1_HUMAN	D	94;94;136	ENSP00000326830:E94D;ENSP00000394734:E136D	ENSP00000326830:E94D	E	-	3	2	CLK1	201434314	1.000000	0.71417	1.000000	0.80357	0.656000	0.38851	1.085000	0.30840	0.755000	0.32990	0.528000	0.53228	GAA		PASS	0.408	CLK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256192.2			206	264	206	264	---	---	---	---
PIKFYVE	200576	broad.mit.edu	37	2	209168915	209168915	+	Silent	SNP	G	G	A			TCGA-66-2766-01A-01D-1522-08	TCGA-66-2766-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	452b75d0-1818-46aa-8804-9cfc0bd66449	81a4d615-e95e-4c17-87f7-c06d8dd4975a	g.chr2:209168915G>A	ENST00000264380.4	+	11	1499	c.1341G>A	c.(1339-1341)acG>acA	p.T447T	PIKFYVE_ENST00000308862.6_Silent_p.T361T|PIKFYVE_ENST00000407449.1_Silent_p.T447T|PIKFYVE_ENST00000392202.3_Silent_p.T350T	NM_015040.3	NP_055855.2	Q9Y2I7	FYV1_HUMAN	phosphoinositide kinase, FYVE finger containing	447					cellular protein metabolic process (GO:0044267)|intracellular signal transduction (GO:0035556)|myelin assembly (GO:0032288)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|phospholipid metabolic process (GO:0006644)|protein localization to nucleus (GO:0034504)|retrograde transport, endosome to Golgi (GO:0042147)|small molecule metabolic process (GO:0044281)	cell-cell junction (GO:0005911)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|early endosome membrane (GO:0031901)|endosome membrane (GO:0010008)|Golgi membrane (GO:0000139)|late endosome membrane (GO:0031902)|membrane raft (GO:0045121)|perinuclear region of cytoplasm (GO:0048471)|vesicle membrane (GO:0012506)	1-phosphatidylinositol-3-phosphate 5-kinase activity (GO:0000285)|1-phosphatidylinositol-4-phosphate 5-kinase activity (GO:0016308)|ATP binding (GO:0005524)|phosphatidylinositol-3,5-bisphosphate 5-phosphatase activity (GO:0043813)|zinc ion binding (GO:0008270)	p.T447T(1)		NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(14)|kidney(6)|large_intestine(25)|lung(40)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	107						TTTCTGAGACGCCTTCTCCCG	0.433																																						uc002vcz.2																			1	Substitution - coding silent(1)		lung(1)	ovary(5)|kidney(2)|pancreas(1)|central_nervous_system(1)|skin(1)	10						c.(1339-1341)ACG>ACA		phosphatidylinositol-3-phosphate 5-kinase type							96.0	95.0	95.0					2																	209168915		2203	4300	6503	SO:0001819	synonymous_variant	200576				cellular protein metabolic process|intracellular signal transduction|protein localization to nucleus|retrograde transport, endosome to Golgi	early endosome membrane|membrane raft	1-phosphatidylinositol-3-phosphate 5-kinase activity|1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding|metal ion binding|protein binding	g.chr2:209168915G>A	AB023198	CCDS2382.1, CCDS33368.1, CCDS54431.1	2q34	2014-01-15	2009-04-17	2009-04-17	ENSG00000115020	ENSG00000115020		"""Zinc fingers, FYVE domain containing"""	23785	protein-coding gene	gene with protein product	"""zinc finger, FYVE domain containing 29"""	609414	"""phosphatidylinositol-3-phosphate/phosphatidylinositol 5-kinase, type III"""	PIP5K3		9858586, 12270933	Standard	NM_015040		Approved	MGC40423, KIAA0981, PIKfyve, PIP5K, p235, ZFYVE29, FAB1	uc002vcz.3	Q9Y2I7	OTTHUMG00000132945	ENST00000264380.4:c.1341G>A	2.37:g.209168915G>A						PIKFYVE_uc010fun.1_Silent_p.T128T|PIKFYVE_uc002vcy.1_Silent_p.T447T|PIKFYVE_uc002vcv.2_Silent_p.T350T|PIKFYVE_uc002vcw.2_Silent_p.T447T|PIKFYVE_uc002vcx.2_Silent_p.T361T	p.T447T	NM_015040	NP_055855	Q9Y2I7	FYV1_HUMAN			11	1499	+			447					Q08AR7|Q08AR8|Q53ST3|Q53T36|Q8N5H0|Q8NB67	Silent	SNP	ENST00000264380.4	37	c.1341G>A	CCDS2382.1																																																																																				PASS	0.433	PIKFYVE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256477.2	NM_015040		57	157	57	157	---	---	---	---
SPAG16	79582	broad.mit.edu	37	2	214204974	214204974	+	Silent	SNP	A	A	G			TCGA-66-2766-01A-01D-1522-08	TCGA-66-2766-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	452b75d0-1818-46aa-8804-9cfc0bd66449	81a4d615-e95e-4c17-87f7-c06d8dd4975a	g.chr2:214204974A>G	ENST00000331683.5	+	6	719	c.624A>G	c.(622-624)aaA>aaG	p.K208K	SPAG16_ENST00000414961.2_3'UTR|SPAG16_ENST00000272898.7_Silent_p.K208K|SPAG16_ENST00000413312.1_Silent_p.K177K|SPAG16_ENST00000374309.3_Silent_p.K114K|SPAG16_ENST00000447990.1_Silent_p.K208K	NM_024532.4	NP_078808.3	Q8N0X2	SPG16_HUMAN	sperm associated antigen 16	208					cilium assembly (GO:0042384)|spermatogenesis (GO:0007283)	axoneme (GO:0005930)|microtubule cytoskeleton (GO:0015630)|motile cilium (GO:0031514)|nucleus (GO:0005634)		p.K208K(1)		endometrium(4)|kidney(1)|large_intestine(15)|lung(27)|ovary(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	56		Renal(323;0.00461)		UCEC - Uterine corpus endometrioid carcinoma (47;0.0525)|Epithelial(149;7.07e-07)|all cancers(144;7.96e-05)|Lung(261;0.00255)|LUSC - Lung squamous cell carcinoma(224;0.00599)		AAAAAAACAAATTAATTAATG	0.279																																						uc002veq.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|skin(1)	2						c.(622-624)AAA>AAG		sperm associated antigen 16 isoform 1							36.0	37.0	37.0					2																	214204974		2203	4295	6498	SO:0001819	synonymous_variant	79582				cilium assembly	cilium axoneme|flagellar axoneme		g.chr2:214204974A>G	AF310672	CCDS2396.1, CCDS46508.1	2q34	2013-05-21			ENSG00000144451	ENSG00000144451		"""WD repeat domain containing"""	23225	protein-coding gene	gene with protein product		612173				12391165, 11867345	Standard	NM_024532		Approved	PF20, FLJ22724, DKFZp666P1710, WDR29	uc002veq.4	Q8N0X2	OTTHUMG00000133015	ENST00000331683.5:c.624A>G	2.37:g.214204974A>G						SPAG16_uc010fuz.1_Silent_p.K59K|SPAG16_uc002ver.2_Silent_p.K154K|SPAG16_uc010zjk.1_Silent_p.K114K|SPAG16_uc002vep.1_Intron|SPAG16_uc002ves.1_Silent_p.K177K	p.K208K	NM_024532	NP_078808	Q8N0X2	SPG16_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (47;0.0525)|Epithelial(149;7.07e-07)|all cancers(144;7.96e-05)|Lung(261;0.00255)|LUSC - Lung squamous cell carcinoma(224;0.00599)	6	716	+		Renal(323;0.00461)	208			Potential.		Q498B7|Q658W1|Q68DB3|Q6I9Z6|Q8N9C7|Q9H601	Silent	SNP	ENST00000331683.5	37	c.624A>G	CCDS2396.1																																																																																				PASS	0.279	SPAG16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256601.2	NM_024532		45	18	45	18	---	---	---	---
SPHKAP	80309	broad.mit.edu	37	2	228884227	228884227	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2766-01A-01D-1522-08	TCGA-66-2766-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	452b75d0-1818-46aa-8804-9cfc0bd66449	81a4d615-e95e-4c17-87f7-c06d8dd4975a	g.chr2:228884227G>T	ENST00000392056.3	-	7	1389	c.1343C>A	c.(1342-1344)cCc>cAc	p.P448H	SPHKAP_ENST00000344657.5_Missense_Mutation_p.P448H	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN	SPHK1 interactor, AKAP domain containing	448						extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|Z disc (GO:0030018)	protein kinase A binding (GO:0051018)	p.P448H(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)		GACGATTTTGGGGAGCTCATT	0.512																																						uc002vpq.2																			2	Substitution - Missense(2)		lung(2)	skin(5)|ovary(4)|lung(1)	10						c.(1342-1344)CCC>CAC		sphingosine kinase type 1-interacting protein							102.0	100.0	101.0					2																	228884227		2203	4300	6503	SO:0001583	missense	80309					cytoplasm	protein binding	g.chr2:228884227G>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.1343C>A	2.37:g.228884227G>T	ENSP00000375909:p.Pro448His					SPHKAP_uc002vpp.2_Missense_Mutation_p.P448H|SPHKAP_uc010zlx.1_Missense_Mutation_p.P448H	p.P448H	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	1390	-		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)	448					Q68DA3|Q68DR8|Q9C0I5	Missense_Mutation	SNP	ENST00000392056.3	37	c.1343C>A	CCDS46537.1	.	.	.	.	.	.	.	.	.	.	G	26.3	4.722075	0.89298	.	.	ENSG00000153820	ENST00000392056;ENST00000344657	T;T	0.49720	0.77;0.8	6.03	6.03	0.97812	.	0.000000	0.85682	D	0.000000	T	0.71970	0.3403	M	0.78637	2.42	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	T	0.73272	-0.4035	10	0.87932	D	0	.	19.545	0.95291	0.0:0.0:1.0:0.0	.	448;448	Q2M3C7;Q2M3C7-2	SPKAP_HUMAN;.	H	448	ENSP00000375909:P448H;ENSP00000339886:P448H	ENSP00000339886:P448H	P	-	2	0	SPHKAP	228592471	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.023000	0.93683	2.861000	0.98227	0.655000	0.94253	CCC		PASS	0.512	SPHKAP-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000331750.1	NM_030623		75	51	75	51	---	---	---	---
EDEM1	9695	broad.mit.edu	37	3	5243501	5243501	+	Silent	SNP	C	C	T			TCGA-66-2766-01A-01D-1522-08	TCGA-66-2766-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	452b75d0-1818-46aa-8804-9cfc0bd66449	81a4d615-e95e-4c17-87f7-c06d8dd4975a	g.chr3:5243501C>T	ENST00000256497.4	+	4	883	c.750C>T	c.(748-750)gaC>gaT	p.D250D	EDEM1_ENST00000445686.1_Silent_p.D55D	NM_014674.2	NP_055489.1	Q92611	EDEM1_HUMAN	ER degradation enhancer, mannosidase alpha-like 1	250					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)	calcium ion binding (GO:0005509)|misfolded protein binding (GO:0051787)	p.D250D(1)		NS(1)|breast(1)|endometrium(1)|large_intestine(5)|liver(2)|lung(4)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	22				Epithelial(13;0.0588)|OV - Ovarian serous cystadenocarcinoma(96;0.0682)		CCTTTGGTGACATGACAATTA	0.453																																						uc003bqi.2																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|breast(1)	3						c.(748-750)GAC>GAT		ER degradation enhancer, mannosidase alpha-like							137.0	128.0	131.0					3																	5243501		2203	4300	6503	SO:0001819	synonymous_variant	9695				ER-associated protein catabolic process|post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine|response to unfolded protein	integral to endoplasmic reticulum membrane	calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity|misfolded protein binding	g.chr3:5243501C>T	D86967	CCDS33686.1	3p26.1	2008-02-05			ENSG00000134109	ENSG00000134109			18967	protein-coding gene	gene with protein product		607673				12610306	Standard	NM_014674		Approved	KIAA0212, EDEM	uc003bqi.3	Q92611	OTTHUMG00000154896	ENST00000256497.4:c.750C>T	3.37:g.5243501C>T						EDEM1_uc011asz.1_Silent_p.D28D|EDEM1_uc003bqh.2_Silent_p.D250D	p.D250D	NM_014674	NP_055489	Q92611	EDEM1_HUMAN		Epithelial(13;0.0588)|OV - Ovarian serous cystadenocarcinoma(96;0.0682)	4	882	+			250			Lumenal (Potential).		A8K9C8|B4DXP3	Silent	SNP	ENST00000256497.4	37	c.750C>T	CCDS33686.1																																																																																				PASS	0.453	EDEM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337566.2	NM_014674		160	199	160	199	---	---	---	---
ATP2B2	491	broad.mit.edu	37	3	10442733	10442733	+	Missense_Mutation	SNP	T	T	A			TCGA-66-2766-01A-01D-1522-08	TCGA-66-2766-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	452b75d0-1818-46aa-8804-9cfc0bd66449	81a4d615-e95e-4c17-87f7-c06d8dd4975a	g.chr3:10442733T>A	ENST00000352432.4	-	4	754	c.685A>T	c.(685-687)Atc>Ttc	p.I229F	ATP2B2_ENST00000383800.4_Missense_Mutation_p.I229F|ATP2B2_ENST00000360273.2_Missense_Mutation_p.I229F|ATP2B2_ENST00000343816.4_Missense_Mutation_p.I229F|ATP2B2_ENST00000397077.1_Missense_Mutation_p.I229F			Q01814	AT2B2_HUMAN	ATPase, Ca++ transporting, plasma membrane 2	229					auditory receptor cell stereocilium organization (GO:0060088)|blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cerebellar granule cell differentiation (GO:0021707)|cerebellar Purkinje cell differentiation (GO:0021702)|cGMP metabolic process (GO:0046068)|cochlea development (GO:0090102)|cytosolic calcium ion homeostasis (GO:0051480)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|ion transmembrane transport (GO:0034220)|lactation (GO:0007595)|locomotion (GO:0040011)|locomotory behavior (GO:0007626)|neuromuscular process controlling balance (GO:0050885)|neuron differentiation (GO:0030182)|organelle organization (GO:0006996)|otolith mineralization (GO:0045299)|positive regulation of calcium ion transport (GO:0051928)|regulation of cell size (GO:0008361)|regulation of synaptic plasticity (GO:0048167)|sensory perception of sound (GO:0007605)|serotonin metabolic process (GO:0042428)|synapse organization (GO:0050808)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical plasma membrane (GO:0016324)|cilium (GO:0005929)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calcium-dependent ATPase activity (GO:0030899)|calcium-transporting ATPase activity (GO:0005388)|calmodulin binding (GO:0005516)|metal ion binding (GO:0046872)|PDZ domain binding (GO:0030165)|protein C-terminus binding (GO:0008022)	p.I229F(2)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|large_intestine(19)|lung(29)|ovary(5)|prostate(2)|skin(4)|stomach(2)|urinary_tract(2)	74						TTGCCCTGGATGAAGAGGCCG	0.577																																					Ovarian(125;1619 1709 15675 19819 38835)	uc003bvt.2																			2	Substitution - Missense(2)		lung(2)	ovary(3)|skin(2)|central_nervous_system(1)	6						c.(685-687)ATC>TTC		plasma membrane calcium ATPase 2 isoform 1							98.0	89.0	92.0					3																	10442733		2203	4300	6503	SO:0001583	missense	491				ATP biosynthetic process|cytosolic calcium ion homeostasis|platelet activation	cytosol|integral to membrane|plasma membrane	ATP binding|ATP binding|calcium ion binding|calcium-transporting ATPase activity|calcium-transporting ATPase activity|calmodulin binding|calmodulin binding|metal ion binding|PDZ domain binding|protein C-terminus binding	g.chr3:10442733T>A	X63575	CCDS2601.1, CCDS33701.1	3p25.3	2010-04-20	2001-12-04		ENSG00000157087	ENSG00000157087	3.6.3.8	"""ATPases / P-type"""	815	protein-coding gene	gene with protein product	"""plasma membrane Ca2+ pump 2"", ""plasma membrane calcium-transporting ATPase 2"""	108733				1313367	Standard	NM_001001331		Approved	PMCA2	uc003bvt.3	Q01814	OTTHUMG00000128679	ENST00000352432.4:c.685A>T	3.37:g.10442733T>A	ENSP00000324172:p.Ile229Phe					ATP2B2_uc003bvv.2_Missense_Mutation_p.I229F|ATP2B2_uc003bvw.2_Missense_Mutation_p.I229F|ATP2B2_uc010hdp.2_Missense_Mutation_p.I229F|ATP2B2_uc010hdo.2_5'UTR	p.I229F	NM_001001331	NP_001001331	Q01814	AT2B2_HUMAN			5	1124	-			229			Cytoplasmic (Potential).		O00766|Q12994|Q16818	Missense_Mutation	SNP	ENST00000352432.4	37	c.685A>T	CCDS33701.1	.	.	.	.	.	.	.	.	.	.	T	27.7	4.851119	0.91277	.	.	ENSG00000157087	ENST00000352432;ENST00000383800;ENST00000397077;ENST00000360273;ENST00000343816;ENST00000535386;ENST00000452124;ENST00000342354	D;D;D;D;D;D	0.92149	-2.98;-2.98;-2.98;-2.98;-2.98;-2.98	5.6	5.6	0.85130	ATPase, P-type, ATPase-associated domain (1);ATPase,  P-type, cytoplasmic transduction domain A (1);	0.000000	0.85682	D	0.000000	D	0.95124	0.8420	M	0.63428	1.95	0.80722	D	1	D;B;P	0.76494	0.999;0.34;0.538	D;B;B	0.83275	0.996;0.236;0.358	D	0.94818	0.7984	10	0.45353	T	0.12	-36.5931	15.7913	0.78367	0.0:0.0:0.0:1.0	.	229;241;229	Q01814-7;Q4LE63;Q01814	.;.;AT2B2_HUMAN	F	229;229;229;229;229;195;116;229	ENSP00000324172:I229F;ENSP00000373311:I229F;ENSP00000380267:I229F;ENSP00000353414:I229F;ENSP00000344677:I229F;ENSP00000414854:I116F	ENSP00000342954:I229F	I	-	1	0	ATP2B2	10417733	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.261000	0.58841	2.124000	0.65301	0.528000	0.53228	ATC		PASS	0.577	ATP2B2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000250576.2	NM_001683		65	76	65	76	---	---	---	---
PLCL2	23228	broad.mit.edu	37	3	17051265	17051265	+	Missense_Mutation	SNP	A	A	G			TCGA-66-2766-01A-01D-1522-08	TCGA-66-2766-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	452b75d0-1818-46aa-8804-9cfc0bd66449	81a4d615-e95e-4c17-87f7-c06d8dd4975a	g.chr3:17051265A>G	ENST00000418129.2	+	2	514	c.49A>G	c.(49-51)Atg>Gtg	p.M17V	PLCL2_ENST00000432376.1_Missense_Mutation_p.M17V|PLCL2_ENST00000396755.2_Missense_Mutation_p.M17V|PLCL2_ENST00000460467.1_3'UTR	NM_001144382.1	NP_001137854.1	Q9UPR0	PLCL2_HUMAN	phospholipase C-like 2	143	Gly-rich.				B cell proliferation involved in immune response (GO:0002322)|B-1a B cell differentiation (GO:0002337)|gamma-aminobutyric acid signaling pathway (GO:0007214)|intracellular signal transduction (GO:0035556)|lipid metabolic process (GO:0006629)|negative regulation of B cell receptor signaling pathway (GO:0050859)|positive regulation of receptor binding (GO:1900122)|regulation of peptidyl-serine phosphorylation (GO:0033135)|regulation of synaptic transmission, GABAergic (GO:0032228)	cytoplasm (GO:0005737)	calcium ion binding (GO:0005509)|GABA receptor binding (GO:0050811)|phosphatidylinositol phospholipase C activity (GO:0004435)|signal transducer activity (GO:0004871)	p.M17V(1)		breast(4)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(2)|skin(7)|urinary_tract(1)	43						TATTAATTCAATGGTTGAGGG	0.433																																						uc011awc.1																			1	Substitution - Missense(1)		lung(1)	skin(2)|ovary(1)|lung(1)	4						c.(403-405)ATG>GTG		phospholipase C-like 2 isoform 1							68.0	68.0	68.0					3																	17051265		2203	4300	6503	SO:0001583	missense	23228				intracellular signal transduction|lipid metabolic process	cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity	g.chr3:17051265A>G	AB029015	CCDS33713.1, CCDS74911.1	3p25.3-p25.1	2008-03-18	2002-02-18	2002-02-22	ENSG00000154822	ENSG00000154822			9064	protein-coding gene	gene with protein product		614276	"""phospholipase C, epsilon 2"""	PLCE2		10470851	Standard	NM_015184		Approved	KIAA1092	uc011awd.2	Q9UPR0	OTTHUMG00000155467	ENST00000418129.2:c.49A>G	3.37:g.17051265A>G	ENSP00000409637:p.Met17Val					PLCL2_uc010het.1_Missense_Mutation_p.M17V|PLCL2_uc011awd.1_Missense_Mutation_p.M17V	p.M135V	NM_001144382	NP_001137854	Q9UPR0	PLCL2_HUMAN			5	508	+			143			PH.		A8K5V4|Q8N498|Q9H8L0|Q9UFP9	Missense_Mutation	SNP	ENST00000418129.2	37	c.403A>G	CCDS33713.1	.	.	.	.	.	.	.	.	.	.	A	14.84	2.656469	0.47467	.	.	ENSG00000154822	ENST00000418129;ENST00000285094;ENST00000396755;ENST00000432376	T;T;T	0.63255	-0.03;-0.03;-0.03	5.52	4.37	0.52481	Pleckstrin homology-type (1);Pleckstrin homology domain (2);	0.000000	0.85682	D	0.000000	T	0.76955	0.4060	.	.	.	0.58432	D	0.999991	D;D	0.71674	0.997;0.998	D;D	0.70716	0.935;0.97	T	0.78516	-0.2174	9	0.72032	D	0.01	.	11.1781	0.48612	0.9279:0.0:0.0721:0.0	.	143;17	Q9UPR0;Q9UPR0-2	PLCL2_HUMAN;.	V	17;144;17;17	ENSP00000409637:M17V;ENSP00000379979:M17V;ENSP00000412836:M17V	ENSP00000285094:M144V	M	+	1	0	PLCL2	17026269	1.000000	0.71417	0.781000	0.31783	0.948000	0.59901	9.339000	0.96797	0.943000	0.37553	0.402000	0.26972	ATG		PASS	0.433	PLCL2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340250.3			66	84	66	84	---	---	---	---
STAC	6769	broad.mit.edu	37	3	36587757	36587757	+	Silent	SNP	C	C	A			TCGA-66-2766-01A-01D-1522-08	TCGA-66-2766-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	452b75d0-1818-46aa-8804-9cfc0bd66449	81a4d615-e95e-4c17-87f7-c06d8dd4975a	g.chr3:36587757C>A	ENST00000273183.3	+	11	1485	c.1185C>A	c.(1183-1185)ccC>ccA	p.P395P	STAC_ENST00000457375.2_Silent_p.P334P	NM_003149.1	NP_003140.1	Q99469	STAC_HUMAN	SH3 and cysteine rich domain	395					cellular response to heat (GO:0034605)|intracellular signal transduction (GO:0035556)|signal transduction (GO:0007165)	cytosol (GO:0005829)	metal ion binding (GO:0046872)	p.P395P(1)		endometrium(5)|large_intestine(9)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(5)	32						GCCTCATCCCCCTTGATGTAC	0.473																																						uc003cgh.1																			1	Substitution - coding silent(1)		lung(1)	skin(2)|ovary(1)|pancreas(1)	4						c.(1183-1185)CCC>CCA		SH3 and cysteine rich domain							158.0	137.0	144.0					3																	36587757		2203	4300	6503	SO:0001819	synonymous_variant	6769				intracellular signal transduction	cytoplasm|soluble fraction	metal ion binding	g.chr3:36587757C>A	D86640	CCDS2662.1	3p22.3	2007-06-08			ENSG00000144681	ENSG00000144681			11353	protein-coding gene	gene with protein product		602317	"""src homology three (SH3) and cysteine rich domain"""			8954993, 10393425	Standard	XM_006713308		Approved	STAC1	uc003cgh.1	Q99469	OTTHUMG00000130798	ENST00000273183.3:c.1185C>A	3.37:g.36587757C>A						STAC_uc011aya.1_Silent_p.P334P	p.P395P	NM_003149	NP_003140	Q99469	STAC_HUMAN			11	1224	+			395					B2R8S8	Silent	SNP	ENST00000273183.3	37	c.1185C>A	CCDS2662.1																																																																																				PASS	0.473	STAC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253338.2	NM_003149		59	38	59	38	---	---	---	---
GOLGA4	2803	broad.mit.edu	37	3	37388761	37388761	+	Missense_Mutation	SNP	G	G	C			TCGA-66-2766-01A-01D-1522-08	TCGA-66-2766-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	452b75d0-1818-46aa-8804-9cfc0bd66449	81a4d615-e95e-4c17-87f7-c06d8dd4975a	g.chr3:37388761G>C	ENST00000361924.2	+	21	6924	c.6550G>C	c.(6550-6552)Gag>Cag	p.E2184Q	GOLGA4_ENST00000356847.4_Missense_Mutation_p.E2199Q|GOLGA4_ENST00000444882.1_Intron	NM_002078.4	NP_002069.2	Q13439	GOGA4_HUMAN	golgin A4	2184	GRIP. {ECO:0000255|PROSITE- ProRule:PRU00250}.				Golgi to plasma membrane protein transport (GO:0043001)|protein targeting to Golgi (GO:0000042)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)|trans-Golgi network (GO:0005802)	GTPase binding (GO:0051020)	p.E2184Q(1)		NS(2)|breast(3)|central_nervous_system(3)|endometrium(6)|kidney(2)|large_intestine(17)|liver(2)|lung(16)|ovary(4)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						AGTGCTTTTTGAGTATATGAT	0.353																																						uc003cgv.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|breast(1)|central_nervous_system(1)	4						c.(6550-6552)GAG>CAG		golgi autoantigen, golgin subfamily a, 4							120.0	115.0	117.0					3																	37388761		2203	4300	6503	SO:0001583	missense	2803				Golgi to plasma membrane protein transport	Golgi membrane|trans-Golgi network	protein binding	g.chr3:37388761G>C	U31906	CCDS2666.1, CCDS54564.1	3p22-p21.3	2010-02-12	2010-02-12		ENSG00000144674	ENSG00000144674			4427	protein-coding gene	gene with protein product	"""golgin 245"""	602509	"""golgi autoantigen, golgin subfamily a, 4"""			8626529	Standard	NM_002078		Approved	GOLG, GCP2, p230, golgin-240	uc003cgw.3	Q13439	OTTHUMG00000130799	ENST00000361924.2:c.6550G>C	3.37:g.37388761G>C	ENSP00000354486:p.Glu2184Gln					GOLGA4_uc003cgw.2_Missense_Mutation_p.E2199Q|GOLGA4_uc010hgs.2_Intron|GOLGA4_uc003cgx.2_Missense_Mutation_p.E2065Q	p.E2184Q	NM_002078	NP_002069	Q13439	GOGA4_HUMAN			21	6854	+			2184			GRIP.|Potential.		F8W8Q7|Q13270|Q13654|Q14436|Q59EW8	Missense_Mutation	SNP	ENST00000361924.2	37	c.6550G>C	CCDS2666.1	.	.	.	.	.	.	.	.	.	.	G	28.1	4.891935	0.91889	.	.	ENSG00000144674	ENST00000361924;ENST00000356847;ENST00000437131	T;T;T	0.37752	1.19;1.18;1.19	5.48	5.48	0.80851	GRIP (5);	0.000000	0.33364	N	0.004981	T	0.49150	0.1540	L	0.31420	0.93	0.49483	D	0.999797	D;D;D	0.89917	1.0;1.0;0.994	D;D;D	0.87578	0.998;0.998;0.95	T	0.34900	-0.9810	10	0.31617	T	0.26	.	18.1104	0.89533	0.0:0.0:1.0:0.0	.	2184;2199;2184	Q13439-4;F8W8Q7;Q13439	.;.;GOGA4_HUMAN	Q	2184;2199;2055	ENSP00000354486:E2184Q;ENSP00000349305:E2199Q;ENSP00000405842:E2055Q	ENSP00000349305:E2199Q	E	+	1	0	GOLGA4	37363765	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.752000	0.85141	2.574000	0.86865	0.455000	0.32223	GAG		PASS	0.353	GOLGA4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000253339.2	NM_002078		5	155	5	155	---	---	---	---
SCN5A	6331	broad.mit.edu	37	3	38647446	38647446	+	Missense_Mutation	SNP	T	T	G			TCGA-66-2766-01A-01D-1522-08	TCGA-66-2766-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	452b75d0-1818-46aa-8804-9cfc0bd66449	81a4d615-e95e-4c17-87f7-c06d8dd4975a	g.chr3:38647446T>G	ENST00000333535.4	-	10	1483	c.1334A>C	c.(1333-1335)cAc>cCc	p.H445P	SCN5A_ENST00000423572.2_Missense_Mutation_p.H445P|SCN5A_ENST00000414099.2_Missense_Mutation_p.H445P|SCN5A_ENST00000443581.1_Missense_Mutation_p.H445P|SCN5A_ENST00000425664.1_Missense_Mutation_p.H445P|SCN5A_ENST00000451551.2_Missense_Mutation_p.H445P|SCN5A_ENST00000450102.2_Missense_Mutation_p.H445P|SCN5A_ENST00000449557.2_Missense_Mutation_p.H445P|SCN5A_ENST00000413689.1_Missense_Mutation_p.H445P|SCN5A_ENST00000455624.2_Missense_Mutation_p.H445P			Q14524	SCN5A_HUMAN	sodium channel, voltage-gated, type V, alpha subunit	445			H -> D (in ATFB10). {ECO:0000269|PubMed:18378609}.		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.H445P(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)	ACCCACCTCGTGTTCTTTCTT	0.557																																						uc003cio.2																			2	Substitution - Missense(2)		lung(2)	ovary(4)|pancreas(2)|skin(2)|central_nervous_system(1)	9						c.(1333-1335)CAC>CCC		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)						69.0	76.0	74.0					3																	38647446		2049	4187	6236	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.chr3:38647446T>G	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.1334A>C	3.37:g.38647446T>G	ENSP00000328968:p.His445Pro					SCN5A_uc003cin.2_Missense_Mutation_p.H445P|SCN5A_uc003cil.3_Missense_Mutation_p.H445P|SCN5A_uc010hhi.2_Missense_Mutation_p.H445P|SCN5A_uc010hhk.2_Missense_Mutation_p.H445P|SCN5A_uc011ayr.1_Missense_Mutation_p.H445P|SCN5A_uc010hhj.1_Missense_Mutation_p.H56P	p.H445P	NM_198056	NP_932173	Q14524	SCN5A_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	10	1528	-	Medulloblastoma(35;0.163)		445		H -> D (found in patients with atrial fibrillation).			A5H1P8|A6N922|A6N923|B2RTU0|E7ET19|E9PEF3|E9PEK2|E9PFW7|Q59H93|Q75RX9|Q75RY0|Q86UR3|Q8IZC9|Q96J69	Missense_Mutation	SNP	ENST00000333535.4	37	c.1334A>C	CCDS46796.1	.	.	.	.	.	.	.	.	.	.	T	17.29	3.353056	0.61293	.	.	ENSG00000183873	ENST00000414099;ENST00000423572;ENST00000413689;ENST00000451551;ENST00000443581;ENST00000425664;ENST00000333535;ENST00000455624;ENST00000450102;ENST00000449557	D;D;D;D;D;D;D;D;D;D	0.95821	-3.74;-3.76;-3.76;-3.78;-3.76;-3.74;-3.76;-3.82;-3.78;-3.78	5.54	5.54	0.83059	.	0.164277	0.56097	D	0.000029	D	0.91971	0.7457	N	0.14661	0.345	0.53005	D	0.999969	B;B;B;B;B;P;B	0.39520	0.052;0.052;0.256;0.052;0.052;0.676;0.087	B;B;B;B;B;B;B	0.43018	0.042;0.077;0.132;0.057;0.057;0.405;0.121	D	0.93325	0.6696	10	0.87932	D	0	.	15.8465	0.78895	0.0:0.0:0.0:1.0	.	445;445;445;445;445;445;445	E9PEF3;E9PHB6;Q14524-6;E9PG18;Q14524;Q14524-2;E9PEK2	.;.;.;.;SCN5A_HUMAN;.;.	P	445	ENSP00000398962:H445P;ENSP00000398266:H445P;ENSP00000410257:H445P;ENSP00000388797:H445P;ENSP00000397915:H445P;ENSP00000416634:H445P;ENSP00000328968:H445P;ENSP00000399524:H445P;ENSP00000403355:H445P;ENSP00000413996:H445P	ENSP00000328968:H445P	H	-	2	0	SCN5A	38622450	1.000000	0.71417	0.885000	0.34714	0.960000	0.62799	7.849000	0.86908	2.326000	0.78906	0.533000	0.62120	CAC		PASS	0.557	SCN5A-014	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000377958.1	NM_198056		52	13	52	13	---	---	---	---
SCN10A	6336	broad.mit.edu	37	3	38739751	38739751	+	Missense_Mutation	SNP	G	G	C			TCGA-66-2766-01A-01D-1522-08	TCGA-66-2766-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	452b75d0-1818-46aa-8804-9cfc0bd66449	81a4d615-e95e-4c17-87f7-c06d8dd4975a	g.chr3:38739751G>C	ENST00000449082.2	-	27	4959	c.4960C>G	c.(4960-4962)Ctc>Gtc	p.L1654V		NM_006514.2	NP_006505.2	Q9Y5Y9	SCNAA_HUMAN	sodium channel, voltage-gated, type X, alpha subunit	1654					AV node cell to bundle of His cell communication (GO:0086067)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of cardiac muscle contraction (GO:0055117)|regulation of heart rate (GO:0002027)|regulation of ion transmembrane transport (GO:0034765)|sensory perception (GO:0007600)|sensory perception of pain (GO:0019233)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	C-fiber (GO:0044299)|extracellular vesicular exosome (GO:0070062)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)	p.L1654V(1)		NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cinchocaine(DB00527)|Cocaine(DB00907)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Lacosamide(DB06218)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Orphenadrine(DB01173)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)|Valproic Acid(DB00313)	ATCTGGAAGAGGCACAGCATG	0.582																																						uc003ciq.2																			1	Substitution - Missense(1)		lung(1)	ovary(5)|skin(3)|large_intestine(1)|kidney(1)	10						c.(4960-4962)CTC>GTC		sodium channel, voltage-gated, type X, alpha	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)						135.0	132.0	133.0					3																	38739751		2203	4300	6503	SO:0001583	missense	6336				sensory perception	voltage-gated sodium channel complex		g.chr3:38739751G>C	AF117907	CCDS33736.1	3p22.2	2012-02-26	2007-01-23		ENSG00000185313	ENSG00000185313		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10582	protein-coding gene	gene with protein product		604427	"""sodium channel, voltage-gated, type X, alpha polypeptide"""			9839820, 10198179, 16382098	Standard	NM_006514		Approved	Nav1.8, hPN3, SNS, PN3	uc003ciq.3	Q9Y5Y9	OTTHUMG00000048245	ENST00000449082.2:c.4960C>G	3.37:g.38739751G>C	ENSP00000390600:p.Leu1654Val						p.L1654V	NM_006514	NP_006505	Q9Y5Y9	SCNAA_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	27	4960	-			1654			IV.		A6NDQ1	Missense_Mutation	SNP	ENST00000449082.2	37	c.4960C>G	CCDS33736.1	.	.	.	.	.	.	.	.	.	.	G	17.88	3.497878	0.64186	.	.	ENSG00000185313	ENST00000449082	D	0.97430	-4.38	5.38	5.38	0.77491	Ion transport (1);	0.000000	0.64402	D	0.000001	D	0.98264	0.9425	M	0.84219	2.685	0.43377	D	0.995476	D	0.89917	1.0	D	0.91635	0.999	D	0.98387	1.0561	10	0.87932	D	0	.	12.6114	0.56554	0.075:0.0:0.925:0.0	.	1654	Q9Y5Y9	SCNAA_HUMAN	V	1654	ENSP00000390600:L1654V	ENSP00000390600:L1654V	L	-	1	0	SCN10A	38714755	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.216000	0.42871	2.800000	0.96347	0.655000	0.94253	CTC		PASS	0.582	SCN10A-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109745.3	NM_006514		114	46	114	46	---	---	---	---
ZNF445	353274	broad.mit.edu	37	3	44496716	44496716	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2766-01A-01D-1522-08	TCGA-66-2766-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	452b75d0-1818-46aa-8804-9cfc0bd66449	81a4d615-e95e-4c17-87f7-c06d8dd4975a	g.chr3:44496716C>G	ENST00000396077.2	-	3	673	c.326G>C	c.(325-327)gGg>gCg	p.G109A	ZNF445_ENST00000425708.2_Missense_Mutation_p.G109A	NM_181489.5	NP_852466.1	P59923	ZN445_HUMAN	zinc finger protein 445	109	SCAN box. {ECO:0000255|PROSITE- ProRule:PRU00187}.				transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.G109A(1)		breast(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(8)|ovary(2)|pancreas(1)|skin(3)	31				KIRC - Kidney renal clear cell carcinoma(197;0.0514)|Kidney(197;0.0646)		CCGGAGCTCCCCAGGCAGGAT	0.612																																						uc003cnf.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(325-327)GGG>GCG		zinc finger protein 445							66.0	68.0	67.0					3																	44496716		2203	4300	6503	SO:0001583	missense	353274				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr3:44496716C>G	AY262260	CCDS2713.1	3p21.32	2013-01-09	2003-10-07		ENSG00000185219	ENSG00000185219		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	21018	protein-coding gene	gene with protein product			"""zinc finger protein 168"""	ZNF168		7814019	Standard	NM_181489		Approved	ZKSCAN15, ZSCAN47	uc003cnf.2	P59923	OTTHUMG00000133042	ENST00000396077.2:c.326G>C	3.37:g.44496716C>G	ENSP00000379387:p.Gly109Ala					ZNF445_uc011azv.1_Missense_Mutation_p.G109A|ZNF445_uc011azw.1_Missense_Mutation_p.G109A	p.G109A	NM_181489	NP_852466	P59923	ZN445_HUMAN		KIRC - Kidney renal clear cell carcinoma(197;0.0514)|Kidney(197;0.0646)	3	674	-			109			SCAN box.		Q3MJD1	Missense_Mutation	SNP	ENST00000396077.2	37	c.326G>C	CCDS2713.1	.	.	.	.	.	.	.	.	.	.	C	9.018	0.984160	0.18889	.	.	ENSG00000185219	ENST00000425708;ENST00000396077;ENST00000340674;ENST00000430301	T;T	0.03951	3.75;3.75	4.45	2.6	0.31112	Retrovirus capsid, C-terminal (1);Transcription regulator SCAN (3);	0.400535	0.18899	N	0.128097	T	0.06188	0.0160	L	0.55103	1.725	0.23440	N	0.997672	B;B	0.22746	0.074;0.074	B;B	0.27170	0.077;0.077	T	0.28364	-1.0046	10	0.72032	D	0.01	.	6.186	0.20498	0.0:0.7088:0.1887:0.1025	.	109;109	B7ZKX2;P59923	.;ZN445_HUMAN	A	109;109;106;108	ENSP00000413073:G109A;ENSP00000379387:G109A	ENSP00000342436:G106A	G	-	2	0	ZNF445	44471720	0.000000	0.05858	0.501000	0.27601	0.886000	0.51366	-0.106000	0.10890	0.593000	0.29745	0.563000	0.77884	GGG		PASS	0.612	ZNF445-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256647.2	NM_181489		52	21	52	21	---	---	---	---
EPHA6	285220	broad.mit.edu	37	3	96706267	96706267	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2766-01A-01D-1522-08	TCGA-66-2766-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	452b75d0-1818-46aa-8804-9cfc0bd66449	81a4d615-e95e-4c17-87f7-c06d8dd4975a	g.chr3:96706267C>T	ENST00000389672.5	+	3	582	c.544C>T	c.(544-546)Cgt>Tgt	p.R182C	EPHA6_ENST00000470610.2_Missense_Mutation_p.R182C|EPHA6_ENST00000542517.1_Missense_Mutation_p.R88C	NM_001080448.2	NP_001073917.2	Q9UF33	EPHA6_HUMAN	EPH receptor A6	88	Eph LBD. {ECO:0000255|PROSITE- ProRule:PRU00883}.					integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)	p.R88C(2)|p.R182C(1)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(2)|lung(60)|ovary(3)|skin(11)|stomach(5)|upper_aerodigestive_tract(2)	101						CAACTGGCTTCGTACAAACTG	0.428																																						uc010how.1																			3	Substitution - Missense(3)		lung(3)	stomach(5)|lung(4)|central_nervous_system(3)|breast(1)|skin(1)|ovary(1)|kidney(1)	16						c.(544-546)CGT>TGT		EPH receptor A6 isoform a							95.0	94.0	94.0					3																	96706267		1879	4103	5982	SO:0001583	missense	285220					integral to plasma membrane	ATP binding|ephrin receptor activity	g.chr3:96706267C>T	AK092565	CCDS46876.1, CCDS54616.1, CCDS63697.1	3q12.1	2013-02-11	2004-10-28		ENSG00000080224	ENSG00000080224		"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	19296	protein-coding gene	gene with protein product		600066				12471243	Standard	NM_001080448		Approved	FLJ35246	uc010how.1	Q9UF33	OTTHUMG00000159208	ENST00000389672.5:c.544C>T	3.37:g.96706267C>T	ENSP00000374323:p.Arg182Cys					EPHA6_uc003drp.1_Missense_Mutation_p.R182C	p.R182C	NM_001080448	NP_001073917	Q9UF33	EPHA6_HUMAN			3	587	+			87			Ephrin-binding.|Extracellular (Potential).		D6RAL5	Missense_Mutation	SNP	ENST00000389672.5	37	c.544C>T	CCDS46876.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	18.79|18.79	3.699636|3.699636	0.68501|0.68501	.|.	.|.	ENSG00000080224|ENSG00000080224	ENST00000470610;ENST00000389672;ENST00000542517|ENST00000506569	T;T;T|.	0.04317|.	3.65;3.65;3.65|.	5.74|5.74	5.74|5.74	0.90152|0.90152	.|.	0.315711|.	0.27836|.	U|.	0.017648|.	D|D	0.86381|0.86381	0.5919|0.5919	M|M	0.90870|0.90870	3.155|3.155	0.80722|0.80722	D|D	1|1	D;D|.	0.89917|.	1.0;1.0|.	D;D|.	0.91635|.	0.999;0.999|.	D|D	0.88370|0.88370	0.2994|0.2994	10|5	0.87932|.	D|.	0|.	.|.	19.9351|19.9351	0.97137|0.97137	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	182;182|.	B3KS12;E7EU71|.	.;.|.	C|L	182;182;88|126	ENSP00000420598:R182C;ENSP00000374323:R182C;ENSP00000439758:R88C|.	ENSP00000374323:R182C|.	R|S	+|+	1|2	0|0	EPHA6|EPHA6	98188957|98188957	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.948000|0.948000	0.59901|0.59901	3.734000|3.734000	0.55037|0.55037	2.703000|2.703000	0.92315|0.92315	0.655000|0.655000	0.94253|0.94253	CGT|TCG		PASS	0.428	EPHA6-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353845.3	NM_001080448		386	135	386	135	---	---	---	---
TBC1D23	55773	broad.mit.edu	37	3	100029275	100029275	+	Missense_Mutation	SNP	G	G	C			TCGA-66-2766-01A-01D-1522-08	TCGA-66-2766-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	452b75d0-1818-46aa-8804-9cfc0bd66449	81a4d615-e95e-4c17-87f7-c06d8dd4975a	g.chr3:100029275G>C	ENST00000394144.4	+	14	1449	c.1442G>C	c.(1441-1443)aGa>aCa	p.R481T	TBC1D23_ENST00000344949.5_Missense_Mutation_p.R481T|TBC1D23_ENST00000486274.1_3'UTR|TBC1D23_ENST00000475134.1_Missense_Mutation_p.R344T	NM_001199198.2	NP_001186127.1	Q9NUY8	TBC23_HUMAN	TBC1 domain family, member 23	481					positive regulation of interleukin-6 production (GO:0032755)|regulation of inflammatory response (GO:0050727)|regulation of tumor necrosis factor production (GO:0032680)		Rab GTPase activator activity (GO:0005097)	p.R481T(2)		breast(1)|endometrium(1)|large_intestine(7)|liver(1)|lung(10)|ovary(1)|prostate(2)|skin(2)	25						TCAAGTGATAGAGGAATGAAA	0.333																																						uc003dtt.2																			2	Substitution - Missense(2)		lung(2)	ovary(1)|liver(1)	2						c.(1441-1443)AGA>ACA		TBC1 domain family, member 23							119.0	124.0	123.0					3																	100029275		2203	4300	6503	SO:0001583	missense	55773					intracellular	Rab GTPase activator activity	g.chr3:100029275G>C	AK001908	CCDS2936.1, CCDS56265.1	3q12.2	2013-07-10			ENSG00000036054	ENSG00000036054			25622	protein-coding gene	gene with protein product						22312129	Standard	NM_001199198		Approved	FLJ11046	uc003dtt.4	Q9NUY8	OTTHUMG00000159067	ENST00000394144.4:c.1442G>C	3.37:g.100029275G>C	ENSP00000377700:p.Arg481Thr					TBC1D23_uc003dts.2_Missense_Mutation_p.R481T	p.R481T	NM_018309	NP_060779	Q9NUY8	TBC23_HUMAN			14	1619	+			481					B9A6M5|Q8TCN8|Q8WUB7|Q96D90|Q9NV75	Missense_Mutation	SNP	ENST00000394144.4	37	c.1442G>C	CCDS56265.1	.	.	.	.	.	.	.	.	.	.	G	12.89	2.074046	0.36566	.	.	ENSG00000036054	ENST00000344949;ENST00000394144;ENST00000475134	T;T;T	0.29917	1.55;1.56;1.55	5.82	5.82	0.92795	.	0.092168	0.85682	D	0.000000	T	0.19525	0.0469	N	0.08118	0	0.50313	D	0.99986	B;B	0.19817	0.023;0.039	B;B	0.20955	0.014;0.032	T	0.10941	-1.0608	9	.	.	.	.	20.1001	0.97870	0.0:0.0:1.0:0.0	.	481;481	Q9NUY8;Q9NUY8-2	TBC23_HUMAN;.	T	481;481;344	ENSP00000340693:R481T;ENSP00000377700:R481T;ENSP00000418059:R344T	.	R	+	2	0	TBC1D23	101511965	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	6.862000	0.75484	2.760000	0.94817	0.655000	0.94253	AGA		PASS	0.333	TBC1D23-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000353150.1	NM_018309		55	244	55	244	---	---	---	---
ZNF80	7634	broad.mit.edu	37	3	113955287	113955287	+	Missense_Mutation	SNP	G	G	A			TCGA-66-2766-01A-01D-1522-08	TCGA-66-2766-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	452b75d0-1818-46aa-8804-9cfc0bd66449	81a4d615-e95e-4c17-87f7-c06d8dd4975a	g.chr3:113955287G>A	ENST00000482457.2	-	1	1138	c.635C>T	c.(634-636)aCt>aTt	p.T212I	RP11-553L6.2_ENST00000481773.1_RNA|RP11-553L6.2_ENST00000493033.1_RNA	NM_007136.3	NP_009067.2	P51504	ZNF80_HUMAN	zinc finger protein 80	212					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.T212I(1)		NS(1)|endometrium(1)|large_intestine(9)|lung(15)|ovary(2)|prostate(2)|urinary_tract(2)	32		Lung NSC(201;0.0233)|all_neural(597;0.0837)				CTTTCCTGCAGTGTGGGTCAT	0.483																																					GBM(23;986 1114 21716)	uc010hqo.2																			1	Substitution - Missense(1)		lung(1)		0						c.(634-636)ACT>ATT		zinc finger protein 80							109.0	113.0	111.0					3																	113955287		2203	4300	6503	SO:0001583	missense	7634					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr3:113955287G>A	X65233	CCDS2979.1	3q13.31	2013-01-08	2006-05-12		ENSG00000174255	ENSG00000174255		"""Zinc fingers, C2H2-type"""	13155	protein-coding gene	gene with protein product		194553	"""zinc finger protein 80 (pT17)"""			8478004	Standard	NM_007136		Approved	pT17	uc010hqo.3	P51504	OTTHUMG00000159332	ENST00000482457.2:c.635C>T	3.37:g.113955287G>A	ENSP00000417192:p.Thr212Ile					ZNF80_uc003ebf.2_RNA	p.T212I	NM_007136	NP_009067	P51504	ZNF80_HUMAN			1	1139	-		Lung NSC(201;0.0233)|all_neural(597;0.0837)	212					Q6NSW4|Q6NT14	Missense_Mutation	SNP	ENST00000482457.2	37	c.635C>T	CCDS2979.1	.	.	.	.	.	.	.	.	.	.	G	14.79	2.641269	0.47153	.	.	ENSG00000174255	ENST00000482457	T	0.25749	1.78	3.24	-2.23	0.06930	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.37320	0.0999	M	0.64676	1.99	0.09310	N	1	D	0.67145	0.996	D	0.74023	0.982	T	0.24048	-1.0171	9	0.62326	D	0.03	.	1.8073	0.03083	0.1951:0.2975:0.3649:0.1426	.	212	P51504	ZNF80_HUMAN	I	212	ENSP00000417192:T212I	ENSP00000309812:T212I	T	-	2	0	ZNF80	115437977	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.495000	0.22483	-0.554000	0.06150	0.561000	0.74099	ACT		PASS	0.483	ZNF80-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354696.2	NM_007136		260	53	260	53	---	---	---	---
GAP43	2596	broad.mit.edu	37	3	115395334	115395334	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2766-01A-01D-1522-08	TCGA-66-2766-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	452b75d0-1818-46aa-8804-9cfc0bd66449	81a4d615-e95e-4c17-87f7-c06d8dd4975a	g.chr3:115395334G>T	ENST00000305124.6	+	2	871	c.505G>T	c.(505-507)Gat>Tat	p.D169Y	GAP43_ENST00000393780.3_Missense_Mutation_p.D205Y	NM_002045.3	NP_002036.1	P17677	NEUM_HUMAN	growth associated protein 43	169					axon choice point recognition (GO:0016198)|cell fate commitment (GO:0045165)|glial cell differentiation (GO:0010001)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|regulation of filopodium assembly (GO:0051489)|regulation of growth (GO:0040008)|response to wounding (GO:0009611)|tissue regeneration (GO:0042246)	axon (GO:0030424)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|filopodium membrane (GO:0031527)|plasma membrane (GO:0005886)|synapse (GO:0045202)		p.D205Y(1)|p.D169Y(1)|p.D169N(1)		endometrium(3)|kidney(3)|large_intestine(3)|lung(20)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	32				GBM - Glioblastoma multiforme(114;0.164)		TAAACAAGCCGATGTGCctgc	0.607																																						uc003ebq.2																			3	Substitution - Missense(3)		lung(2)|large_intestine(1)	ovary(1)	1						c.(505-507)GAT>TAT		growth associated protein 43 isoform 2							30.0	30.0	30.0					3																	115395334		2195	4290	6485	SO:0001583	missense	2596				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|cell differentiation|nervous system development|regulation of filopodium assembly|regulation of growth|response to wounding	cell junction|filopodium membrane|growth cone membrane|synapse	calmodulin binding	g.chr3:115395334G>T		CCDS33830.1, CCDS46890.1	3q13.31	2013-09-19			ENSG00000172020	ENSG00000172020			4140	protein-coding gene	gene with protein product	"""neuron growth-associated protein 43"", ""neuromodulin"", ""nerve growth-related peptide GAP43"", ""axonal membrane protein GAP-43"", ""protein F1"", ""calmodulin-binding protein P-57"", ""neural phosphoprotein B-50"""	162060				3272162, 8231732	Standard	NM_002045		Approved	B-50, PP46	uc003ebr.2	P17677	OTTHUMG00000133758	ENST00000305124.6:c.505G>T	3.37:g.115395334G>T	ENSP00000305010:p.Asp169Tyr					GAP43_uc003ebr.2_Missense_Mutation_p.D205Y	p.D169Y	NM_002045	NP_002036	P17677	NEUM_HUMAN		GBM - Glioblastoma multiforme(114;0.164)	2	891	+			169					A8K0Y4	Missense_Mutation	SNP	ENST00000305124.6	37	c.505G>T	CCDS33830.1	.	.	.	.	.	.	.	.	.	.	G	23.8	4.454368	0.84209	.	.	ENSG00000172020	ENST00000305124;ENST00000393780	T;T	0.53423	0.62;0.62	5.45	5.45	0.79879	Neuromodulin (GAP-43), C-terminal (1);	0.097702	0.64402	D	0.000002	T	0.69169	0.3081	M	0.66939	2.045	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.70517	-0.4850	10	0.87932	D	0	-16.7246	19.4735	0.94973	0.0:0.0:1.0:0.0	.	205;169	A8K0Y4;P17677	.;NEUM_HUMAN	Y	169;205	ENSP00000305010:D169Y;ENSP00000377372:D205Y	ENSP00000305010:D169Y	D	+	1	0	GAP43	116878024	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.176000	0.94839	2.836000	0.97738	0.655000	0.94253	GAT		PASS	0.607	GAP43-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258216.2	NM_002045		17	7	17	7	---	---	---	---
IGSF11	152404	broad.mit.edu	37	3	118623603	118623603	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2766-01A-01D-1522-08	TCGA-66-2766-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	452b75d0-1818-46aa-8804-9cfc0bd66449	81a4d615-e95e-4c17-87f7-c06d8dd4975a	g.chr3:118623603G>T	ENST00000393775.2	-	6	1051	c.746C>A	c.(745-747)aCt>aAt	p.T249N	IGSF11_ENST00000441144.2_Missense_Mutation_p.T224N|IGSF11_ENST00000425327.2_Missense_Mutation_p.T248N|IGSF11_ENST00000491903.1_Intron|IGSF11_ENST00000489689.1_Missense_Mutation_p.T225N|IGSF11_ENST00000354673.2_Missense_Mutation_p.T248N	NM_001015887.1	NP_001015887.1	Q5DX21	IGS11_HUMAN	immunoglobulin superfamily, member 11	249					cell adhesion (GO:0007155)|regulation of growth (GO:0040008)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.T248N(1)|p.T249N(1)		autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(20)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						AACTGCACCAGTGCCAATGGC	0.348																																						uc003ebw.2																			2	Substitution - Missense(2)		lung(2)		0						c.(745-747)ACT>AAT		immunoglobulin superfamily, member 11 isoform b							113.0	128.0	123.0					3																	118623603		2202	4300	6502	SO:0001583	missense	152404				cell adhesion|regulation of growth	integral to membrane|plasma membrane	receptor activity	g.chr3:118623603G>T	AB079879	CCDS2983.1, CCDS46891.1	3q21.2	2013-01-11			ENSG00000144847	ENSG00000144847		"""Immunoglobulin superfamily / I-set domain containing"""	16669	protein-coding gene	gene with protein product	"""cancer/testis antigen 119"""	608351				12207903	Standard	XM_006713516		Approved	BT-IgSF, MGC35227, Igsf13, VSIG3, CT119	uc003ebw.3	Q5DX21	OTTHUMG00000159387	ENST00000393775.2:c.746C>A	3.37:g.118623603G>T	ENSP00000377370:p.Thr249Asn					IGSF11_uc011biv.1_Intron|IGSF11_uc003ebx.2_Missense_Mutation_p.T225N|IGSF11_uc003eby.2_Missense_Mutation_p.T248N|IGSF11_uc003ebz.2_Missense_Mutation_p.T224N|IGSF11_uc010hqs.2_Missense_Mutation_p.T248N	p.T249N	NM_001015887	NP_001015887	Q5DX21	IGS11_HUMAN			6	993	-			249			Helical; (Potential).		C9JZN0|Q8N4F1|Q8N7T8|Q8NDD2	Missense_Mutation	SNP	ENST00000393775.2	37	c.746C>A	CCDS46891.1	.	.	.	.	.	.	.	.	.	.	G	16.32	3.090821	0.55968	.	.	ENSG00000144847	ENST00000425327;ENST00000393775;ENST00000489689;ENST00000354673;ENST00000441144	T;T;D;T;D	0.84730	-1.06;-1.29;-1.89;-1.06;-1.84	5.28	3.36	0.38483	.	0.150590	0.64402	D	0.000013	T	0.77974	0.4211	N	0.24115	0.695	0.51482	D	0.999927	D;P;P;P	0.53462	0.96;0.928;0.933;0.933	P;P;B;B	0.44897	0.463;0.463;0.357;0.357	T	0.76953	-0.2768	10	0.27785	T	0.31	.	16.0099	0.80396	0.0:0.2699:0.7301:0.0	.	224;248;225;249	Q5DX21-3;Q5DX21-2;C9JMW0;Q5DX21	.;.;.;IGS11_HUMAN	N	248;249;225;248;224	ENSP00000406092:T248N;ENSP00000377370:T249N;ENSP00000420486:T225N;ENSP00000346700:T248N;ENSP00000401240:T224N	ENSP00000346700:T248N	T	-	2	0	IGSF11	120106293	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.978000	0.70501	1.415000	0.47037	0.655000	0.94253	ACT		PASS	0.348	IGSF11-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355075.2			367	95	367	95	---	---	---	---
POLQ	10721	broad.mit.edu	37	3	121190857	121190857	+	Missense_Mutation	SNP	G	G	A			TCGA-66-2766-01A-01D-1522-08	TCGA-66-2766-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	452b75d0-1818-46aa-8804-9cfc0bd66449	81a4d615-e95e-4c17-87f7-c06d8dd4975a	g.chr3:121190857G>A	ENST00000264233.5	-	22	6826	c.6698C>T	c.(6697-6699)tCa>tTa	p.S2233L		NM_199420.3	NP_955452.3	O75417	DPOLQ_HUMAN	polymerase (DNA directed), theta	2233					ATP catabolic process (GO:0006200)|DNA repair (GO:0006281)	nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|damaged DNA binding (GO:0003684)|DNA-directed DNA polymerase activity (GO:0003887)|single-stranded DNA-dependent ATPase activity (GO:0043142)	p.S2368L(1)		NS(2)|breast(7)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(55)|ovary(5)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	120				GBM - Glioblastoma multiforme(114;0.0915)		GTGCGACTGTGATACAGGATA	0.358								DNA polymerases (catalytic subunits)																													Pancreas(152;907 1925 26081 31236 36904)	uc003eee.3																			1	Substitution - Missense(1)		lung(1)	ovary(4)|breast(3)|lung(2)|upper_aerodigestive_tract(1)|skin(1)	11						c.(6697-6699)TCA>TTA	DNA_polymerases_(catalytic_subunits)	DNA polymerase theta							64.0	65.0	65.0					3																	121190857		2203	4300	6503	SO:0001583	missense	10721				DNA repair|DNA replication	nucleoplasm	ATP binding|ATP-dependent helicase activity|damaged DNA binding|DNA-directed DNA polymerase activity|single-stranded DNA-dependent ATPase activity	g.chr3:121190857G>A	AF052573	CCDS33833.1	3q13.3	2012-05-18			ENSG00000051341	ENSG00000051341	2.7.7.7	"""DNA polymerases"""	9186	protein-coding gene	gene with protein product		604419				10395804	Standard	NM_199420		Approved	POLH	uc003eee.4	O75417	OTTHUMG00000159396	ENST00000264233.5:c.6698C>T	3.37:g.121190857G>A	ENSP00000264233:p.Ser2233Leu					POLQ_uc003eed.2_Missense_Mutation_p.S1405L	p.S2233L	NM_199420	NP_955452	O75417	DPOLQ_HUMAN		GBM - Glioblastoma multiforme(114;0.0915)	22	6827	-			2233					O95160|Q6VMB5	Missense_Mutation	SNP	ENST00000264233.5	37	c.6698C>T	CCDS33833.1	.	.	.	.	.	.	.	.	.	.	G	32	5.146347	0.94603	.	.	ENSG00000051341	ENST00000543272;ENST00000264233;ENST00000393672	T	0.50548	0.74	5.25	5.25	0.73442	.	0.247084	0.41605	D	0.000849	T	0.61464	0.2349	L	0.35793	1.09	0.44227	D	0.997068	D;D	0.89917	0.972;1.0	P;D	0.74023	0.573;0.982	T	0.63001	-0.6734	10	0.87932	D	0	.	19.3982	0.94617	0.0:0.0:1.0:0.0	.	2233;1405	O75417;O75417-2	DPOLQ_HUMAN;.	L	1856;2233;2369	ENSP00000264233:S2233L	ENSP00000264233:S2233L	S	-	2	0	POLQ	122673547	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.146000	0.94640	2.894000	0.99253	0.655000	0.94253	TCA		PASS	0.358	POLQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355097.1	NM_199420		89	115	89	115	---	---	---	---
POLQ	10721	broad.mit.edu	37	3	121217337	121217338	+	Missense_Mutation	DNP	CC	CC	AT			TCGA-66-2766-01A-01D-1522-08	TCGA-66-2766-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	452b75d0-1818-46aa-8804-9cfc0bd66449	81a4d615-e95e-4c17-87f7-c06d8dd4975a	g.chr3:121217337_121217338CC>AT	ENST00000264233.5	-	13	2267_2268	c.2139_2140GG>AT	c.(2137-2142)atGGcc>atATcc	p.713_714MA>IS		NM_199420.3	NP_955452.3	O75417	DPOLQ_HUMAN	polymerase (DNA directed), theta	713					ATP catabolic process (GO:0006200)|DNA repair (GO:0006281)	nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|damaged DNA binding (GO:0003684)|DNA-directed DNA polymerase activity (GO:0003887)|single-stranded DNA-dependent ATPase activity (GO:0043142)	p.A849S(1)|p.M848I(1)|p.M848_A849>IS(1)		NS(2)|breast(7)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(55)|ovary(5)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	120				GBM - Glioblastoma multiforme(114;0.0915)		TTATGGATGGCCATTTGTCGAT	0.465								DNA polymerases (catalytic subunits)																													Pancreas(152;907 1925 26081 31236 36904)	uc003eee.3																			3	Substitution - Missense(2)|Complex - compound substitution(1)		lung(3)	ovary(4)|breast(3)|lung(2)|upper_aerodigestive_tract(1)|skin(1)	11						c.(2140-2142)GCC>TCC|c.(2137-2139)ATG>ATA	DNA_polymerases_(catalytic_subunits)	DNA polymerase theta																																				SO:0001583	missense	10721				DNA repair|DNA replication	nucleoplasm	ATP binding|ATP-dependent helicase activity|damaged DNA binding|DNA-directed DNA polymerase activity|single-stranded DNA-dependent ATPase activity	g.chr3:121217337C>A|g.chr3:121217338C>T	AF052573	CCDS33833.1	3q13.3	2012-05-18			ENSG00000051341	ENSG00000051341	2.7.7.7	"""DNA polymerases"""	9186	protein-coding gene	gene with protein product		604419				10395804	Standard	NM_199420		Approved	POLH	uc003eee.4	O75417	OTTHUMG00000159396	ENST00000264233.5:c.2139_2140delinsAT	3.37:g.121217337_121217338delinsAT	ENSP00000264233:p.M713_A714delinsIS						p.A714S|p.M713I	NM_199420	NP_955452	O75417	DPOLQ_HUMAN		GBM - Glioblastoma multiforme(114;0.0915)	13	2269|2268	-			714|713					O95160|Q6VMB5	Missense_Mutation	SNP	ENST00000264233.5	37	c.2140G>T|c.2139G>A	CCDS33833.1																																																																																				PASS	0.465	POLQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355097.1	NM_199420		165|167	57	165	57	---	---	---	---
DTX3L	151636	broad.mit.edu	37	3	122284753	122284753	+	Missense_Mutation	SNP	G	G	A			TCGA-66-2766-01A-01D-1522-08	TCGA-66-2766-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	452b75d0-1818-46aa-8804-9cfc0bd66449	81a4d615-e95e-4c17-87f7-c06d8dd4975a	g.chr3:122284753G>A	ENST00000296161.4	+	2	424	c.235G>A	c.(235-237)Gaa>Aaa	p.E79K	PARP9_ENST00000477522.2_5'Flank|PARP9_ENST00000471785.1_5'Flank|PARP9_ENST00000462315.1_5'Flank|DTX3L_ENST00000383661.3_Missense_Mutation_p.E79K|PARP9_ENST00000360356.2_5'Flank|PARP9_ENST00000492382.1_5'Flank	NM_138287.3	NP_612144.1	Q8TDB6	DTX3L_HUMAN	deltex 3 like, E3 ubiquitin ligase	79					cellular response to DNA damage stimulus (GO:0006974)|double-strand break repair (GO:0006302)|histone monoubiquitination (GO:0010390)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	histone binding (GO:0042393)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.E79K(2)		breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(12)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	24				GBM - Glioblastoma multiforme(114;0.0459)		ACTTGTTGACGAAAAACCTGT	0.393																																						uc003efk.2																			2	Substitution - Missense(2)		large_intestine(1)|lung(1)	ovary(2)|lung(1)|breast(1)	4						c.(235-237)GAA>AAA		deltex 3-like							116.0	109.0	112.0					3																	122284753		2203	4300	6503	SO:0001583	missense	151636				histone monoubiquitination|response to DNA damage stimulus	cytoplasm|nucleus	histone binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr3:122284753G>A		CCDS3015.1	3q21.1	2014-01-28	2014-01-28		ENSG00000163840	ENSG00000163840		"""RING-type (C3HC4) zinc fingers"""	30323	protein-coding gene	gene with protein product	"""rhysin 2"""	613143	"""deltex 3-like (Drosophila)"""			12670957, 22411408	Standard	NM_138287		Approved	BBAP	uc003efk.3	Q8TDB6	OTTHUMG00000159524	ENST00000296161.4:c.235G>A	3.37:g.122284753G>A	ENSP00000296161:p.Glu79Lys					DTX3L_uc010hrj.2_Missense_Mutation_p.E79K|PARP9_uc003eff.3_5'Flank|PARP9_uc010hri.2_5'Flank|PARP9_uc011bjs.1_5'Flank|PARP9_uc003efg.2_5'Flank|PARP9_uc003efi.2_5'Flank|PARP9_uc003efh.2_5'Flank|PARP9_uc003efj.2_5'Flank	p.E79K	NM_138287	NP_612144	Q8TDB6	DTX3L_HUMAN		GBM - Glioblastoma multiforme(114;0.0459)	2	324	+			79					B3KWH6|Q53ZZ3|Q5MJP7	Missense_Mutation	SNP	ENST00000296161.4	37	c.235G>A	CCDS3015.1	.	.	.	.	.	.	.	.	.	.	G	7.082	0.570505	0.13560	.	.	ENSG00000163840	ENST00000296161;ENST00000383661	T;T	0.41400	1.57;1.0	4.92	-7.95	0.01148	.	2.203020	0.01792	N	0.032369	T	0.30103	0.0754	N	0.19112	0.55	0.09310	N	1	B;B	0.06786	0.001;0.001	B;B	0.04013	0.001;0.0	T	0.16188	-1.0411	10	0.35671	T	0.21	-10.6967	16.6414	0.85128	0.2974:0.0:0.7026:0.0	.	79;79	Q8TDB6-2;Q8TDB6	.;DTX3L_HUMAN	K	79	ENSP00000296161:E79K;ENSP00000373157:E79K	ENSP00000296161:E79K	E	+	1	0	DTX3L	123767443	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.645000	0.02000	-2.110000	0.00837	-0.797000	0.03246	GAA		PASS	0.393	DTX3L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355966.1	NM_138287		122	72	122	72	---	---	---	---
PODXL2	50512	broad.mit.edu	37	3	127379755	127379755	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2766-01A-01D-1522-08	TCGA-66-2766-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	452b75d0-1818-46aa-8804-9cfc0bd66449	81a4d615-e95e-4c17-87f7-c06d8dd4975a	g.chr3:127379755G>T	ENST00000342480.6	+	3	923	c.884G>T	c.(883-885)gGt>gTt	p.G295V		NM_015720.2	NP_056535.1	Q9NZ53	PDXL2_HUMAN	podocalyxin-like 2	295					leukocyte tethering or rolling (GO:0050901)	integral component of plasma membrane (GO:0005887)	glycosaminoglycan binding (GO:0005539)	p.G295V(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	26						GGAGCAGCTGGTTTGTCTGGC	0.622																																						uc003ejq.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.(883-885)GGT>GTT		podocalyxin-like 2 precursor							48.0	45.0	46.0					3																	127379755		2203	4300	6503	SO:0001583	missense	50512				leukocyte tethering or rolling	integral to plasma membrane	glycosaminoglycan binding|protein binding	g.chr3:127379755G>T	AF219137	CCDS3044.1	3q21.3	2005-02-18			ENSG00000114631	ENSG00000114631			17936	protein-coding gene	gene with protein product	"""endoglycan"""					10722749	Standard	NM_015720		Approved	PODLX2, endoglycan	uc003ejq.3	Q9NZ53	OTTHUMG00000159642	ENST00000342480.6:c.884G>T	3.37:g.127379755G>T	ENSP00000345359:p.Gly295Val						p.G295V	NM_015720	NP_056535	Q9NZ53	PDXL2_HUMAN			3	908	+			295			Extracellular (Potential).		Q6UVY4|Q8WUV6	Missense_Mutation	SNP	ENST00000342480.6	37	c.884G>T	CCDS3044.1	.	.	.	.	.	.	.	.	.	.	G	9.489	1.100174	0.20552	.	.	ENSG00000114631	ENST00000342480;ENST00000302192	T	0.23552	1.9	4.27	-0.499	0.12015	.	0.974067	0.08431	N	0.946927	T	0.16557	0.0398	L	0.29908	0.895	0.09310	N	1	B	0.14805	0.011	B	0.15052	0.012	T	0.30736	-0.9968	10	0.52906	T	0.07	-1.7362	3.986	0.09516	0.3203:0.0:0.5191:0.1606	.	295	Q9NZ53	PDXL2_HUMAN	V	295	ENSP00000345359:G295V	ENSP00000304498:G295V	G	+	2	0	PODXL2	128862445	0.000000	0.05858	0.000000	0.03702	0.169000	0.22640	-0.080000	0.11339	-0.393000	0.07739	0.491000	0.48974	GGT		PASS	0.622	PODXL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356638.1	NM_015720		64	9	64	9	---	---	---	---
ZIC4	84107	broad.mit.edu	37	3	147113820	147113820	+	Silent	SNP	G	G	T			TCGA-66-2766-01A-01D-1522-08	TCGA-66-2766-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	452b75d0-1818-46aa-8804-9cfc0bd66449	81a4d615-e95e-4c17-87f7-c06d8dd4975a	g.chr3:147113820G>T	ENST00000383075.3	-	3	1019	c.507C>A	c.(505-507)gcC>gcA	p.A169A	ZIC4_ENST00000491672.1_Intron|ZIC4_ENST00000425731.3_Silent_p.A207A|ZIC4_ENST00000473123.1_Silent_p.A169A|ZIC4_ENST00000525172.2_Silent_p.A219A|ZIC4_ENST00000484399.1_Silent_p.A169A	NM_032153.5	NP_115529.2	Q8N9L1	ZIC4_HUMAN	Zic family member 4	169						nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.A169A(1)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(34)|upper_aerodigestive_tract(4)	57						AAATGTGGTTGGCCTGTTCCG	0.602																																						uc003ewd.1																			1	Substitution - coding silent(1)		lung(1)	upper_aerodigestive_tract(1)|central_nervous_system(1)	2						c.(505-507)GCC>GCA		zinc finger protein of the cerebellum 4							106.0	118.0	114.0					3																	147113820		2203	4300	6503	SO:0001819	synonymous_variant	84107					nucleus	DNA binding|zinc ion binding	g.chr3:147113820G>T	AF332509	CCDS43160.1, CCDS54652.1, CCDS54653.1, CCDS58857.1	3q24	2013-01-08	2003-02-21		ENSG00000174963	ENSG00000174963		"""Zinc fingers, C2H2-type"""	20393	protein-coding gene	gene with protein product		608948	"""zinc finger protein of the cerebellum 4"""				Standard	NM_001168378		Approved		uc011bno.2	Q8N9L1	OTTHUMG00000037281	ENST00000383075.3:c.507C>A	3.37:g.147113820G>T						ZIC4_uc003ewc.1_Silent_p.A99A|ZIC4_uc011bno.1_Silent_p.A219A	p.A169A	NM_032153	NP_115529	Q8N9L1	ZIC4_HUMAN			3	780	-			169					A0AVA2|B2RMQ8|B4DF89|B7Z2L2|C9J7D5|J3KQG1|Q4G157|Q9BZ94	Silent	SNP	ENST00000383075.3	37	c.507C>A	CCDS43160.1																																																																																				PASS	0.602	ZIC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355504.1			202	193	202	193	---	---	---	---
ZIC1	7545	broad.mit.edu	37	3	147128490	147128490	+	Nonsense_Mutation	SNP	C	C	G			TCGA-66-2766-01A-01D-1522-08	TCGA-66-2766-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	452b75d0-1818-46aa-8804-9cfc0bd66449	81a4d615-e95e-4c17-87f7-c06d8dd4975a	g.chr3:147128490C>G	ENST00000282928.4	+	1	1320	c.591C>G	c.(589-591)taC>taG	p.Y197*		NM_003412.3	NP_003403.2	Q15915	ZIC1_HUMAN	Zic family member 1	197					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.Y197*(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						TGCACGGCTACGGGCCCATGA	0.657																																						uc003ewe.2																			1	Substitution - Nonsense(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.(589-591)TAC>TAG		zinc finger protein of the cerebellum 1							41.0	44.0	43.0					3																	147128490		2203	4299	6502	SO:0001587	stop_gained	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.chr3:147128490C>G	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.591C>G	3.37:g.147128490C>G	ENSP00000282928:p.Tyr197*						p.Y197*	NM_003412	NP_003403	Q15915	ZIC1_HUMAN			1	1310	+			197					Q2M3N1	Nonsense_Mutation	SNP	ENST00000282928.4	37	c.591C>G	CCDS3136.1	.	.	.	.	.	.	.	.	.	.	C	41	8.636039	0.98895	.	.	ENSG00000152977	ENST00000282928	.	.	.	3.31	-1.91	0.07641	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	8.3466	0.32277	0.0:0.5855:0.0:0.4145	.	.	.	.	X	197	.	ENSP00000282928:Y197X	Y	+	3	2	ZIC1	148611180	0.078000	0.21339	0.990000	0.47175	0.985000	0.73830	-0.642000	0.05427	-0.631000	0.05560	-0.275000	0.10095	TAC		PASS	0.657	ZIC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355497.1	NM_003412		21	105	21	105	---	---	---	---
P2RY13	53829	broad.mit.edu	37	3	151046740	151046740	+	Missense_Mutation	SNP	C	C	G	rs371578438		TCGA-66-2766-01A-01D-1522-08	TCGA-66-2766-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	452b75d0-1818-46aa-8804-9cfc0bd66449	81a4d615-e95e-4c17-87f7-c06d8dd4975a	g.chr3:151046740C>G	ENST00000325602.5	-	2	123	c.104G>C	c.(103-105)cGg>cCg	p.R35P	MED12L_ENST00000273432.4_Intron|MED12L_ENST00000474524.1_Intron|MED12L_ENST00000491549.1_Intron	NM_176894.2	NP_795713.2	Q9BPV8	P2Y13_HUMAN	purinergic receptor P2Y, G-protein coupled, 13	35					negative regulation of adenylate cyclase activity (GO:0007194)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled purinergic nucleotide receptor activity (GO:0045028)	p.R35P(1)|p.R14P(1)		biliary_tract(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	14			LUSC - Lung squamous cell carcinoma(72;0.0189)|Lung(72;0.0278)			TCTGGGGCACCGCTCAGATCT	0.468																																						uc003eyv.2																			2	Substitution - Missense(2)		lung(2)	ovary(3)|lung(1)	4						c.(103-105)CGG>CCG		purinergic receptor P2Y, G-protein coupled, 13							120.0	115.0	117.0					3																	151046740		2203	4300	6503	SO:0001583	missense	53829					integral to membrane|plasma membrane		g.chr3:151046740C>G	AF295368	CCDS3158.2	3q24	2012-08-08	2004-07-12	2004-07-14	ENSG00000181631	ENSG00000181631		"""Purinergic receptors"", ""GPCR / Class A : Purinergic receptors, P2Y"""	4537	protein-coding gene	gene with protein product		606380	"""G protein-coupled receptor 86"""	GPR94, GPR86		11273702, 11574155	Standard	NM_176894		Approved	FKSG77, P2Y13	uc003eyv.2	Q9BPV8	OTTHUMG00000155745	ENST00000325602.5:c.104G>C	3.37:g.151046740C>G	ENSP00000320376:p.Arg35Pro					MED12L_uc011bnz.1_Intron|MED12L_uc003eyp.2_Intron	p.R35P	NM_176894	NP_795713	Q9BPV8	P2Y13_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0189)|Lung(72;0.0278)		2	125	-			35			Extracellular (Potential).		B2R827|Q05C50|Q6DKN4|Q8IUT5|Q8TDU7|Q9BY61	Missense_Mutation	SNP	ENST00000325602.5	37	c.104G>C	CCDS3158.2	.	.	.	.	.	.	.	.	.	.	C	4.879	0.163436	0.09287	.	.	ENSG00000181631	ENST00000325602	T	0.25579	1.79	5.77	-0.179	0.13299	.	0.811842	0.11504	N	0.557358	T	0.11153	0.0272	N	0.08118	0	0.09310	N	1	B	0.12013	0.005	B	0.08055	0.003	T	0.30504	-0.9976	10	0.30078	T	0.28	-1.1667	6.4224	0.21750	0.0:0.3352:0.219:0.4458	.	35	Q9BPV8	P2Y13_HUMAN	P	35	ENSP00000320376:R35P	ENSP00000320376:R35P	R	-	2	0	P2RY13	152529430	0.000000	0.05858	0.093000	0.20910	0.746000	0.42486	-2.105000	0.01339	-0.346000	0.08312	-0.262000	0.10625	CGG		PASS	0.468	P2RY13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341468.1	NM_023914		78	607	78	607	---	---	---	---
IGSF10	285313	broad.mit.edu	37	3	151161095	151161095	+	Silent	SNP	A	A	G			TCGA-66-2766-01A-01D-1522-08	TCGA-66-2766-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	452b75d0-1818-46aa-8804-9cfc0bd66449	81a4d615-e95e-4c17-87f7-c06d8dd4975a	g.chr3:151161095A>G	ENST00000282466.3	-	5	5639	c.5640T>C	c.(5638-5640)gaT>gaC	p.D1880D	IGSF10_ENST00000495443.1_5'Flank	NM_001178145.1|NM_001178146.1|NM_178822.4	NP_001171616.1|NP_001171617.1|NP_849144.2	Q6WRI0	IGS10_HUMAN	immunoglobulin superfamily, member 10	1880	Ig-like C2-type 5.				cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|ossification (GO:0001503)	extracellular region (GO:0005576)		p.D1880D(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(24)|liver(4)|lung(43)|ovary(8)|prostate(4)|skin(9)|stomach(1)|urinary_tract(3)	116			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			CTTCAGTGCCATCAGAGAGGA	0.438																																						uc011bod.1																			1	Substitution - coding silent(1)		lung(1)	skin(7)|ovary(5)|central_nervous_system(1)	13						c.(5638-5640)GAT>GAC		immunoglobulin superfamily, member 10 precursor							73.0	75.0	74.0					3																	151161095		2203	4300	6503	SO:0001819	synonymous_variant	285313				cell differentiation|multicellular organismal development|ossification	extracellular region		g.chr3:151161095A>G	AY273815	CCDS3160.1	3q25.1	2013-01-11			ENSG00000152580	ENSG00000152580		"""Immunoglobulin superfamily / I-set domain containing"""	26384	protein-coding gene	gene with protein product						12477932	Standard	NM_178822		Approved	FLJ25972, CMF608	uc011bod.2	Q6WRI0	OTTHUMG00000159856	ENST00000282466.3:c.5640T>C	3.37:g.151161095A>G						IGSF10_uc011bob.1_5'Flank|IGSF10_uc011boc.1_5'Flank	p.D1880D	NM_178822	NP_849144	Q6WRI0	IGS10_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)		5	5640	-			1880			Ig-like C2-type 5.		Q86YJ9|Q8N772|Q8NA84	Silent	SNP	ENST00000282466.3	37	c.5640T>C	CCDS3160.1																																																																																				PASS	0.438	IGSF10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357782.1	NM_178822		45	286	45	286	---	---	---	---
PIK3CA	5290	broad.mit.edu	37	3	178936091	178936091	+	Missense_Mutation	SNP	G	G	A	rs104886003		TCGA-66-2766-01A-01D-1522-08	TCGA-66-2766-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	452b75d0-1818-46aa-8804-9cfc0bd66449	81a4d615-e95e-4c17-87f7-c06d8dd4975a	g.chr3:178936091G>A	ENST00000263967.3	+	10	1790	c.1633G>A	c.(1633-1635)Gag>Aag	p.E545K		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	545	PIK helical. {ECO:0000255|PROSITE- ProRule:PRU00878}.		E -> A (in CWS5 and HCC; also found in a glioblastoma multiforme sample). {ECO:0000269|PubMed:15608678, ECO:0000269|PubMed:15924253, ECO:0000269|PubMed:23246288}.|E -> G (in KERSEB; also found in an endometrial carcinoma sample). {ECO:0000269|PubMed:15520168, ECO:0000269|PubMed:15994075, ECO:0000269|PubMed:16322209, ECO:0000269|PubMed:17673550}.|E -> K (in MCAP, KERSEB, CRC and BC; shows an increase in lipid kinase activity; oncogenic in vivo; occurs in the interface between the PI3K helical domain and the nSH2 (N-terminal SH2) region of the p85 regulatory subunit and may reduce the inhibitory effect of p85; requires interaction with RAS to induce cellular transformation; enhances invadopodia-mediated extracellular matrix degradation and invasion in breast cancer cells). {ECO:0000269|PubMed:15289301, ECO:0000269|PubMed:15520168, ECO:0000269|PubMed:15712344, ECO:0000269|PubMed:15784156, ECO:0000269|PubMed:15994075, ECO:0000269|PubMed:16322209, ECO:0000269|PubMed:16353168, ECO:0000269|PubMed:16533766, ECO:0000269|PubMed:17673550, ECO:0000269|PubMed:22729224}.		angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose metabolic process (GO:0006006)|hypomethylation of CpG island (GO:0044029)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|leukocyte migration (GO:0050900)|negative regulation of anoikis (GO:2000811)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein kinase B signaling (GO:0043491)|regulation of genetic imprinting (GO:2000653)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|vasculature development (GO:0001944)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|kinase activity (GO:0016301)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activator activity (GO:0030295)|protein serine/threonine kinase activity (GO:0004674)	p.E545K(881)|p.E545Q(18)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		Caffeine(DB00201)	TGAAATCACTGAGCAGGAGAA	0.353	E545K(BC3C_URINARY_TRACT)|E545K(BFTC909_KIDNEY)|E545K(DLD1_LARGE_INTESTINE)|E545K(ESS1_ENDOMETRIUM)|E545K(HCC202_BREAST)|E545K(HCT15_LARGE_INTESTINE)|E545K(HSC4_UPPER_AERODIGESTIVE_TRACT)|E545K(HT1197_URINARY_TRACT)|E545K(HUH28_BILIARY_TRACT)|E545K(KYSE510_OESOPHAGUS)|E545K(L363_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|E545K(MCF7_BREAST)|E545K(MDAMB361_BREAST)|E545K(MKN1_STOMACH)|E545K(NCIH460_LUNG)|E545K(NCIH508_LARGE_INTESTINE)|E545K(NCIH596_LUNG)|E545K(RERFLCSQ1_LUNG)|E545K(TCCSUP_URINARY_TRACT)|E545K(TE5_OESOPHAGUS)	57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)																											Colon(199;1504 1750 3362 26421 31210 32040)	uc003fjk.2	E545K(RERFLCSQ1_LUNG)|E545K(KYSE510_OESOPHAGUS)|E545K(NCIH508_LARGE_INTESTINE)|E545K(HCC202_BREAST)|E545K(BFTC909_KIDNEY)|E545K(HCT15_LARGE_INTESTINE)|E545K(NCIH596_LUNG)|E545K(L363_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|E545K(DLD1_LARGE_INTESTINE)|E545K(ESS1_ENDOMETRIUM)|E545K(MDAMB361_BREAST)|E545K(MKN1_STOMACH)|E545K(MCF7_BREAST)|E545K(NCIH460_LUNG)|E545K(TCCSUP_URINARY_TRACT)|E545K(HSC4_UPPER_AERODIGESTIVE_TRACT)|E545K(BC3C_URINARY_TRACT)|E545K(HUH28_BILIARY_TRACT)|E545K(HT1197_URINARY_TRACT)|E545K(TE5_OESOPHAGUS)	57		Dom	yes		3	3q26.3	5290	Mis	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""			"""E, O"""			colorectal|gastric|gliobastoma|breast		899	Substitution - Missense(899)	p.E545K(735)|p.E545A(75)|p.E545G(55)|p.E545?(19)|p.E545D(15)|p.E545Q(12)|p.E545V(4)	breast(308)|large_intestine(286)|urinary_tract(97)|lung(44)|endometrium(37)|ovary(25)|stomach(17)|upper_aerodigestive_tract(16)|skin(14)|central_nervous_system(13)|cervix(13)|thyroid(7)|oesophagus(7)|penis(4)|kidney(3)|soft_tissue(2)|pancreas(2)|haematopoietic_and_lymphoid_tissue(1)|biliary_tract(1)|NS(1)|pituitary(1)	breast(1564)|large_intestine(776)|endometrium(246)|urinary_tract(195)|ovary(141)|skin(112)|stomach(98)|thyroid(77)|central_nervous_system(69)|lung(65)|upper_aerodigestive_tract(58)|haematopoietic_and_lymphoid_tissue(27)|cervix(25)|biliary_tract(22)|liver(20)|oesophagus(17)|pancreas(11)|penis(8)|pituitary(8)|autonomic_ganglia(4)|prostate(3)|kidney(2)|meninges(1)|eye(1)|NS(1)|soft_tissue(1)|bone(1)	3553						c.(1633-1635)GAG>AAG		phosphoinositide-3-kinase, catalytic, alpha							61.0	60.0	60.0					3																	178936091		1813	4072	5885	SO:0001583	missense	5290				epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	g.chr3:178936091G>A		CCDS43171.1	3q26.3	2014-09-17	2012-07-13		ENSG00000121879	ENSG00000121879	2.7.1.153		8975	protein-coding gene	gene with protein product		171834	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""			1322797	Standard	NM_006218		Approved	PI3K	uc003fjk.3	P42336	OTTHUMG00000157311	ENST00000263967.3:c.1633G>A	3.37:g.178936091G>A	ENSP00000263967:p.Glu545Lys	HNSCC(19;0.045)|TSP Lung(28;0.18)					p.E545K	NM_006218	NP_006209	P42336	PK3CA_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		10	1790	+	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		545		E -> G (in KERSEB).|E -> A (in cancer).|E -> K (in KERSEB; shows an increase in lipid kinase activity; oncogenic in vivo; occurs in the interface between the PI3K helical domain and the nSH2 (N-terminal SH2) region of the p85 regulatory subunit and may reduce the inhibitory effect of p85; requires interaction with RAS to induce cellular transformation; enhances invadopodia-mediated extracellular matrix degradation and invasion in breast cancer cells).	PI3K helical.		Q14CW1|Q99762	Missense_Mutation	SNP	ENST00000263967.3	37	c.1633G>A	CCDS43171.1	.	.	.	.	.	.	.	.	.	.	G	36	5.703347	0.96812	.	.	ENSG00000121879	ENST00000263967	T	0.63255	-0.03	5.78	5.78	0.91487	Phosphoinositide 3-kinase, accessory (PIK) domain (3);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.73822	0.3636	L	0.51914	1.62	0.80722	D	1	D	0.62365	0.991	D	0.62955	0.909	T	0.68872	-0.5294	10	0.32370	T	0.25	-25.7963	20.0024	0.97423	0.0:0.0:1.0:0.0	.	545	P42336	PK3CA_HUMAN	K	545	ENSP00000263967:E545K	ENSP00000263967:E545K	E	+	1	0	PIK3CA	180418785	1.000000	0.71417	1.000000	0.80357	0.951000	0.60555	9.476000	0.97823	2.722000	0.93159	0.467000	0.42956	GAG		PASS	0.353	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000348409.2			68	217	68	217	---	---	---	---
YEATS2	55689	broad.mit.edu	37	3	183433028	183433028	+	Silent	SNP	G	G	A			TCGA-66-2766-01A-01D-1522-08	TCGA-66-2766-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	452b75d0-1818-46aa-8804-9cfc0bd66449	81a4d615-e95e-4c17-87f7-c06d8dd4975a	g.chr3:183433028G>A	ENST00000305135.5	+	2	273	c.78G>A	c.(76-78)cgG>cgA	p.R26R		NM_018023.4	NP_060493.3	Q9ULM3	YETS2_HUMAN	YEATS domain containing 2	26					chromatin organization (GO:0006325)|histone H3 acetylation (GO:0043966)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)	Ada2/Gcn5/Ada3 transcription activator complex (GO:0005671)|mitotic spindle (GO:0072686)	TBP-class protein binding (GO:0017025)	p.R26R(2)		NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(24)|ovary(3)|prostate(2)|skin(3)	49	all_cancers(143;6.55e-10)|Ovarian(172;0.0303)		all cancers(12;2.38e-42)|Epithelial(37;1.9e-36)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)			CAAATAAGCGGCATAAAGCAA	0.398																																						uc003fly.2																			2	Substitution - coding silent(2)		lung(1)|kidney(1)	ovary(3)|large_intestine(1)	4						c.(76-78)CGG>CGA		YEATS domain containing 2							117.0	114.0	115.0					3																	183433028		1862	4098	5960	SO:0001819	synonymous_variant	55689				histone H3 acetylation|negative regulation of transcription from RNA polymerase II promoter	Ada2/Gcn5/Ada3 transcription activator complex	TBP-class protein binding	g.chr3:183433028G>A	AB033023	CCDS43175.1	3q27.3	2004-08-18			ENSG00000163872	ENSG00000163872			25489	protein-coding gene	gene with protein product		613373				10574462	Standard	NM_018023		Approved	FLJ10201, FLJ12841, FLJ13308, KIAA1197	uc003fly.2	Q9ULM3	OTTHUMG00000156898	ENST00000305135.5:c.78G>A	3.37:g.183433028G>A							p.R26R	NM_018023	NP_060493	Q9ULM3	YETS2_HUMAN	all cancers(12;2.38e-42)|Epithelial(37;1.9e-36)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)		2	273	+	all_cancers(143;6.55e-10)|Ovarian(172;0.0303)		26					A7E2B9|D3DNS9|Q641P6|Q9NW96	Silent	SNP	ENST00000305135.5	37	c.78G>A	CCDS43175.1																																																																																				PASS	0.398	YEATS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346507.2	NM_018023		6	402	6	402	---	---	---	---
HTR3E	285242	broad.mit.edu	37	3	183823570	183823570	+	Silent	SNP	G	G	A			TCGA-66-2766-01A-01D-1522-08	TCGA-66-2766-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	452b75d0-1818-46aa-8804-9cfc0bd66449	81a4d615-e95e-4c17-87f7-c06d8dd4975a	g.chr3:183823570G>A	ENST00000415389.2	+	7	1204	c.738G>A	c.(736-738)agG>agA	p.R246R	HTR3E-AS1_ENST00000431427.1_RNA|HTR3E_ENST00000440596.2_Silent_p.R272R|HTR3E_ENST00000335304.2_Silent_p.R261R|HTR3E_ENST00000436361.2_Silent_p.R246R|HTR3E_ENST00000425359.2_Silent_p.R231R	NM_001256613.1|NM_198313.2	NP_001243542.1|NP_938055.1	A5X5Y0	5HT3E_HUMAN	5-hydroxytryptamine (serotonin) receptor 3E, ionotropic	246					ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	extracellular ligand-gated ion channel activity (GO:0005230)	p.R261R(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(20)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	40	all_cancers(143;1.46e-10)|Ovarian(172;0.0303)		Epithelial(37;7.06e-36)|OV - Ovarian serous cystadenocarcinoma(80;3.11e-22)		Ergoloid mesylate(DB01049)	TCAGGCGCAGGCCCAGTCTCT	0.532																																					Melanoma(7;227 727 6634 44770)	uc010hxq.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|central_nervous_system(1)|skin(1)	3						c.(736-738)AGG>AGA		5-hydroxytryptamine receptor 3 subunit E							95.0	87.0	90.0					3																	183823570		2203	4300	6503	SO:0001819	synonymous_variant	285242					integral to membrane|plasma membrane|postsynaptic membrane	extracellular ligand-gated ion channel activity|receptor activity	g.chr3:183823570G>A	AY159813	CCDS3251.1, CCDS58868.1, CCDS58869.1, CCDS58870.1, CCDS58871.1	3q27	2012-05-22	2012-02-03		ENSG00000186038	ENSG00000186038		"""5-HT (serotonin) receptors"", ""Ligand-gated ion channels / 5-HT (serotonin) receptors, ionotropic"""	24005	protein-coding gene	gene with protein product		610123	"""5-hydroxytryptamine (serotonin) receptor 3, family member E"""			12801637, 15157181	Standard	NM_001256613		Approved		uc010hxr.3	A5X5Y0	OTTHUMG00000156857	ENST00000415389.2:c.738G>A	3.37:g.183823570G>A						HTR3E_uc003fml.3_Silent_p.R231R|HTR3E_uc003fmm.2_Silent_p.R261R|HTR3E_uc010hxr.2_Silent_p.R272R|HTR3E_uc003fmn.2_Silent_p.R246R	p.R246R	NM_182589	NP_872395	A5X5Y0	5HT3E_HUMAN	Epithelial(37;7.06e-36)|OV - Ovarian serous cystadenocarcinoma(80;3.11e-22)		7	1204	+	all_cancers(143;1.46e-10)|Ovarian(172;0.0303)		246			Extracellular (Potential).		A8IKD7|E9PGF1|Q495G1|Q495G3|Q6V706|Q6V707|Q7Z6B2	Silent	SNP	ENST00000415389.2	37	c.738G>A	CCDS58868.1																																																																																				PASS	0.532	HTR3E-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000346284.1	NM_182589		84	124	84	124	---	---	---	---
LPP	4026	broad.mit.edu	37	3	188584086	188584086	+	Silent	SNP	G	G	C	rs373435708		TCGA-66-2766-01A-01D-1522-08	TCGA-66-2766-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	452b75d0-1818-46aa-8804-9cfc0bd66449	81a4d615-e95e-4c17-87f7-c06d8dd4975a	g.chr3:188584086G>C	ENST00000312675.4	+	9	1755	c.1509G>C	c.(1507-1509)gtG>gtC	p.V503V	LPP_ENST00000543006.1_Silent_p.V503V	NM_001167672.1|NM_005578.3	NP_001161144.1|NP_005569.1	Q93052	LPP_HUMAN	LIM domain containing preferred translocation partner in lipoma	503	LIM zinc-binding 2. {ECO:0000255|PROSITE- ProRule:PRU00125}.				cell adhesion (GO:0007155)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	zinc ion binding (GO:0008270)	p.V503V(1)	HMGA2/LPP(161)	NS(1)|breast(1)|large_intestine(3)|lung(2)|ovary(1)|upper_aerodigestive_tract(2)	10	all_cancers(143;1.37e-09)|all_hematologic(3;0.0429)|Ovarian(172;0.088)	all_lung(153;0.00139)|Lung NSC(153;0.00202)		GBM - Glioblastoma multiforme(93;0.00602)		TCACCTGCGTGATGTGCCACC	0.552			T	"""HMGA2, MLL, C12orf9"""	"""lipoma, leukemia"""																																	uc003frs.1				Dom	yes		3	3q28	4026	T	LIM domain containing preferred translocation partner in lipoma			"""L, M"""	HMGA2|MLL|C12orf9		lipoma|leukemia	HMGA2/LPP(161)	1	Substitution - coding silent(1)		lung(1)	soft_tissue(134)|bone(27)|lung(2)|ovary(1)|breast(1)	165						c.(1507-1509)GTG>GTC		LIM domain containing preferred translocation		G	,,	0,4406		0,0,2203	159.0	130.0	139.0		1509,1068,1509	1.9	1.0	3		139	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous,coding-synonymous	LPP	NM_001167671.1,NM_001167672.1,NM_005578.3	,,	0,1,6502	CC,CG,GG		0.0116,0.0,0.0077	,,	503/613,356/466,503/613	188584086	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	4026				cell adhesion	cytoplasm|focal adhesion|nucleus	protein binding|zinc ion binding	g.chr3:188584086G>C	AL833171	CCDS3291.1	3q27-q28	2004-03-02	2002-01-14		ENSG00000145012	ENSG00000145012			6679	protein-coding gene	gene with protein product		600700	"""LIM domain-containing preferred translocation partner in lipoma"""			8812423	Standard	XM_005247453		Approved		uc003frs.2	Q93052	OTTHUMG00000156387	ENST00000312675.4:c.1509G>C	3.37:g.188584086G>C						LPP_uc011bsg.1_Silent_p.V356V|LPP_uc011bsi.1_Silent_p.V503V|LPP_uc011bsj.1_Silent_p.V340V	p.V503V	NM_005578	NP_005569	Q93052	LPP_HUMAN		GBM - Glioblastoma multiforme(93;0.00602)	9	1755	+	all_cancers(143;1.37e-09)|all_hematologic(3;0.0429)|Ovarian(172;0.088)	all_lung(153;0.00139)|Lung NSC(153;0.00202)	503			LIM zinc-binding 2.		A1L4L6|D3DNV6|Q8NFX5	Silent	SNP	ENST00000312675.4	37	c.1509G>C	CCDS3291.1																																																																																				PASS	0.552	LPP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344030.1	NM_005578		41	245	41	245	---	---	---	---
CLDN16	10686	broad.mit.edu	37	3	190122607	190122607	+	Nonsense_Mutation	SNP	G	G	T			TCGA-66-2766-01A-01D-1522-08	TCGA-66-2766-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	452b75d0-1818-46aa-8804-9cfc0bd66449	81a4d615-e95e-4c17-87f7-c06d8dd4975a	g.chr3:190122607G>T	ENST00000264734.2	+	3	732	c.484G>T	c.(484-486)Gga>Tga	p.G162*	CLDN16_ENST00000468220.1_3'UTR|CLDN16_ENST00000456423.1_Intron	NM_006580.3	NP_006571.1	Q9Y5I7	CLD16_HUMAN	claudin 16	162					calcium-independent cell-cell adhesion (GO:0016338)|cellular metal ion homeostasis (GO:0006875)|excretion (GO:0007588)|magnesium ion transport (GO:0015693)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	identical protein binding (GO:0042802)|magnesium ion transmembrane transporter activity (GO:0015095)|structural molecule activity (GO:0005198)	p.G162*(1)		breast(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|pancreas(1)|skin(1)	19	all_cancers(143;3.61e-10)|Ovarian(172;0.0991)		Lung(62;2.23e-05)|LUSC - Lung squamous cell carcinoma(58;3.15e-05)	GBM - Glioblastoma multiforme(93;0.018)		AGCTGGGTTTGGATTTCTCAC	0.483																																						uc003fsi.2																			1	Substitution - Nonsense(1)		lung(1)	ovary(1)	1						c.(484-486)GGA>TGA		claudin 16							224.0	210.0	215.0					3																	190122607		2203	4300	6503	SO:0001587	stop_gained	10686				calcium-independent cell-cell adhesion|cellular metal ion homeostasis|excretion	integral to membrane|tight junction	identical protein binding|magnesium ion transmembrane transporter activity|structural molecule activity	g.chr3:190122607G>T	AF152101	CCDS3296.1	3q28	2008-12-10			ENSG00000113946	ENSG00000113946		"""Claudins"""	2037	protein-coding gene	gene with protein product	"""paracellin-1"", ""hypomagnesemia 3, with hypercalciuria and nephrocalcinosis"""	603959				10390358	Standard	NM_006580		Approved	PCLN1, HOMG3	uc003fsi.3	Q9Y5I7	OTTHUMG00000156215	ENST00000264734.2:c.484G>T	3.37:g.190122607G>T	ENSP00000264734:p.Gly162*					CLDN16_uc010hze.2_Intron	p.G162*	NM_006580	NP_006571	Q9Y5I7	CLD16_HUMAN	Lung(62;2.23e-05)|LUSC - Lung squamous cell carcinoma(58;3.15e-05)	GBM - Glioblastoma multiforme(93;0.018)	3	552	+	all_cancers(143;3.61e-10)|Ovarian(172;0.0991)		162			Helical; (Potential).			Nonsense_Mutation	SNP	ENST00000264734.2	37	c.484G>T	CCDS3296.1	.	.	.	.	.	.	.	.	.	.	G	37	6.469533	0.97594	.	.	ENSG00000113946	ENST00000264734	.	.	.	5.93	5.93	0.95920	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-12.5062	19.3347	0.94312	0.0:0.0:1.0:0.0	.	.	.	.	X	162	.	ENSP00000264734:G162X	G	+	1	0	CLDN16	191605301	1.000000	0.71417	1.000000	0.80357	0.857000	0.48899	7.159000	0.77483	2.798000	0.96311	0.655000	0.94253	GGA		PASS	0.483	CLDN16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343519.1	NM_006580		157	249	157	249	---	---	---	---
DLG1	1739	broad.mit.edu	37	3	196921445	196921445	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2766-01A-01D-1522-08	TCGA-66-2766-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	452b75d0-1818-46aa-8804-9cfc0bd66449	81a4d615-e95e-4c17-87f7-c06d8dd4975a	g.chr3:196921445C>T	ENST00000419354.1	-	5	620	c.334G>A	c.(334-336)Gat>Aat	p.D112N	DLG1_ENST00000392382.2_Missense_Mutation_p.D112N|DLG1_ENST00000450955.1_Missense_Mutation_p.D112N|DLG1_ENST00000485409.1_5'UTR|DLG1_ENST00000346964.2_Missense_Mutation_p.D112N|DLG1_ENST00000448528.2_Missense_Mutation_p.D112N|DLG1_ENST00000422288.1_Missense_Mutation_p.D112N|DLG1_ENST00000357674.4_Missense_Mutation_p.D112N|DLG1_ENST00000314062.3_Missense_Mutation_p.D112N			Q12959	DLG1_HUMAN	discs, large homolog 1 (Drosophila)	112					actin filament organization (GO:0007015)|activation of protein kinase activity (GO:0032147)|amyloid precursor protein metabolic process (GO:0042982)|axon guidance (GO:0007411)|branching involved in ureteric bud morphogenesis (GO:0001658)|cortical actin cytoskeleton organization (GO:0030866)|dephosphorylation (GO:0016311)|embryonic skeletal system morphogenesis (GO:0048704)|endothelial cell proliferation (GO:0001935)|establishment or maintenance of cell polarity (GO:0007163)|hard palate development (GO:0060022)|immunological synapse formation (GO:0001771)|lens development in camera-type eye (GO:0002088)|membrane raft organization (GO:0031579)|mitotic cell cycle checkpoint (GO:0007093)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of T cell proliferation (GO:0042130)|nucleotide phosphorylation (GO:0046939)|peristalsis (GO:0030432)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of cell proliferation (GO:0008284)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of potassium ion transport (GO:0043268)|protein localization to plasma membrane (GO:0072659)|regulation of membrane potential (GO:0042391)|regulation of myelination (GO:0031641)|regulation of sodium ion transmembrane transport (GO:1902305)|reproductive structure development (GO:0048608)|single organismal cell-cell adhesion (GO:0016337)|smooth muscle tissue development (GO:0048745)|synaptic transmission (GO:0007268)|T cell activation (GO:0042110)|T cell cytokine production (GO:0002369)|tight junction assembly (GO:0070830)|viral process (GO:0016032)	basal lamina (GO:0005605)|basolateral plasma membrane (GO:0016323)|cell junction (GO:0030054)|cell projection membrane (GO:0031253)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|immunological synapse (GO:0001772)|intercalated disc (GO:0014704)|lateral loop (GO:0043219)|lateral plasma membrane (GO:0016328)|membrane raft (GO:0045121)|microtubule (GO:0005874)|MPP7-DLG1-LIN7 complex (GO:0097025)|myelin sheath abaxonal region (GO:0035748)|neuromuscular junction (GO:0031594)|node of Ranvier (GO:0033268)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|tight junction (GO:0005923)	cytoskeletal protein binding (GO:0008092)|guanylate kinase activity (GO:0004385)|ion channel binding (GO:0044325)|L27 domain binding (GO:0097016)|mitogen-activated protein kinase kinase binding (GO:0031434)|phosphatase binding (GO:0019902)|phosphoprotein phosphatase activity (GO:0004721)|potassium channel regulator activity (GO:0015459)|protein C-terminus binding (GO:0008022)|protein kinase binding (GO:0019901)	p.D112N(1)		breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|liver(1)|lung(9)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	26	all_cancers(143;6.22e-10)|Ovarian(172;0.0418)|Breast(254;0.0589)	Lung NSC(153;0.133)	Epithelial(36;3.23e-24)|all cancers(36;2.15e-22)|OV - Ovarian serous cystadenocarcinoma(49;3.88e-19)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.0148)		GTATCTTCATCCTGATACCTG	0.358																																						uc003fxo.3																			1	Substitution - Missense(1)		lung(1)	ovary(3)	3						c.(334-336)GAT>AAT		discs, large homolog 1 isoform 1							137.0	132.0	134.0					3																	196921445		2203	4300	6503	SO:0001583	missense	1739				actin filament organization|axon guidance|cell-cell adhesion|cortical actin cytoskeleton organization|endothelial cell proliferation|establishment or maintenance of cell polarity|interspecies interaction between organisms|mitotic cell cycle G1/S transition checkpoint|negative regulation of mitotic cell cycle|protein localization in plasma membrane|synaptic transmission|tight junction assembly	basolateral plasma membrane|cytosol|endoplasmic reticulum membrane|immunological synapse|MPP7-DLG1-LIN7 complex|nucleus|postsynaptic density|postsynaptic membrane|sarcolemma|tight junction	cytoskeletal protein binding|guanylate kinase activity|L27 domain binding|phosphatase binding|phosphoprotein phosphatase activity|potassium channel regulator activity|protein binding|protein C-terminus binding|protein kinase binding	g.chr3:196921445C>T	U13897	CCDS3327.1, CCDS43194.1, CCDS56300.1, CCDS56301.1, CCDS75072.1	3q29	2008-12-15	2001-11-28		ENSG00000075711	ENSG00000075711			2900	protein-coding gene	gene with protein product	"""discs large homolog 1"", ""presynaptic protein SAP97"", ""synapse-associated protein 97"""	601014	"""discs, large (Drosophila) homolog 1"""			7937897, 8825652	Standard	NM_004087		Approved	SAP97, SAP-97, hdlg, DLGH1, dJ1061C18.1.1	uc003fxn.4	Q12959	OTTHUMG00000047972	ENST00000419354.1:c.334G>A	3.37:g.196921445C>T	ENSP00000407531:p.Asp112Asn					DLG1_uc011bud.1_5'UTR|DLG1_uc003fxn.3_Missense_Mutation_p.D112N|DLG1_uc011bue.1_Missense_Mutation_p.D112N|DLG1_uc010ial.2_Missense_Mutation_p.D112N|DLG1_uc011buf.1_RNA|DLG1_uc003fxp.2_RNA|DLG1_uc010iam.1_Missense_Mutation_p.D112N	p.D112N	NM_001098424	NP_001091894	Q12959	DLG1_HUMAN	Epithelial(36;3.23e-24)|all cancers(36;2.15e-22)|OV - Ovarian serous cystadenocarcinoma(49;3.88e-19)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.0148)	5	524	-	all_cancers(143;6.22e-10)|Ovarian(172;0.0418)|Breast(254;0.0589)	Lung NSC(153;0.133)	112					A5YKK7|B4DGU1|B4DGZ8|B7ZMM0|B9EIQ5|D3DXB8|D3DXB9|E7EWL7|E9PG21|Q12958	Missense_Mutation	SNP	ENST00000419354.1	37	c.334G>A	CCDS43194.1	.	.	.	.	.	.	.	.	.	.	C	21.4	4.139416	0.77775	.	.	ENSG00000075711	ENST00000346964;ENST00000359922;ENST00000357674;ENST00000381807;ENST00000314062;ENST00000419354;ENST00000422288;ENST00000448528;ENST00000392382;ENST00000450955;ENST00000453607;ENST00000456699;ENST00000392380;ENST00000419553;ENST00000436682	T;T;T;T;T;T;T;T;T;T;T;T	0.54279	0.58;0.58;0.58;0.58;0.58;0.58;0.58;0.58;0.58;0.58;0.58;0.58	5.17	5.17	0.71159	Membrane-associated guanylate kinase (MAGUK), PEST domain, N-terminal (1);	0.056270	0.64402	D	0.000002	T	0.62441	0.2428	L	0.52266	1.64	0.54753	D	0.999984	B;P;B;P	0.48911	0.144;0.917;0.267;0.688	B;P;B;P	0.55260	0.127;0.772;0.167;0.502	T	0.60627	-0.7226	10	0.39692	T	0.17	.	17.6565	0.88179	0.0:1.0:0.0:0.0	.	112;112;112;112	Q12959-4;Q12959-3;Q12959;Q12959-2	.;.;DLG1_HUMAN;.	N	112;112;112;112;112;112;112;112;112;112;16;112;112;112;112	ENSP00000345731:D112N;ENSP00000350303:D112N;ENSP00000321087:D112N;ENSP00000407531:D112N;ENSP00000413238:D112N;ENSP00000391732:D112N;ENSP00000376187:D112N;ENSP00000411278:D112N;ENSP00000412579:D16N;ENSP00000396474:D112N;ENSP00000376185:D112N;ENSP00000414189:D112N	ENSP00000321087:D112N	D	-	1	0	DLG1	198405842	1.000000	0.71417	1.000000	0.80357	0.911000	0.54048	5.724000	0.68500	2.413000	0.81919	0.655000	0.94253	GAT		PASS	0.358	DLG1-008	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000258170.2	NM_004087		101	128	101	128	---	---	---	---
GPR78	27201	broad.mit.edu	37	4	8582963	8582963	+	Missense_Mutation	SNP	T	T	A			TCGA-66-2766-01A-01D-1522-08	TCGA-66-2766-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	452b75d0-1818-46aa-8804-9cfc0bd66449	81a4d615-e95e-4c17-87f7-c06d8dd4975a	g.chr4:8582963T>A	ENST00000382487.4	+	1	671	c.254T>A	c.(253-255)cTg>cAg	p.L85Q	GPR78_ENST00000509216.1_Intron	NM_080819.4	NP_543009.2	Q96P69	GPR78_HUMAN	G protein-coupled receptor 78	85					adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.L85Q(1)		central_nervous_system(4)|kidney(4)|large_intestine(1)|lung(8)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	26						ATTGGCTTCCTGGACACCTTC	0.706																																						uc003glk.2																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(4)|ovary(2)	6						c.(253-255)CTG>CAG		G protein-coupled receptor 78							12.0	14.0	13.0					4																	8582963		2198	4291	6489	SO:0001583	missense	27201				activation of adenylate cyclase activity by G-protein signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr4:8582963T>A	AF411107	CCDS3403.1	4p16.1	2012-08-21			ENSG00000155269	ENSG00000155269		"""GPCR / Class A : Orphans"""	4528	protein-coding gene	gene with protein product		606921				11574155	Standard	NM_080819		Approved		uc003glk.4	Q96P69	OTTHUMG00000128483	ENST00000382487.4:c.254T>A	4.37:g.8582963T>A	ENSP00000371927:p.Leu85Gln					CPZ_uc003gll.2_RNA	p.L85Q	NM_080819	NP_543009	Q96P69	GPR78_HUMAN			1	673	+			85			Helical; Name=3; (Potential).		Q8NGV3	Missense_Mutation	SNP	ENST00000382487.4	37	c.254T>A	CCDS3403.1	.	.	.	.	.	.	.	.	.	.	T	18.17	3.565050	0.65651	.	.	ENSG00000155269	ENST00000382487	T	0.47177	0.85	2.69	2.69	0.31865	GPCR, rhodopsin-like superfamily (1);	0.240995	0.27223	U	0.020360	T	0.59662	0.2210	L	0.56199	1.76	0.42561	D	0.993146	D	0.76494	0.999	D	0.76071	0.987	T	0.60984	-0.7154	10	0.72032	D	0.01	.	9.7588	0.40519	0.0:0.0:0.0:1.0	.	85	Q96P69	GPR78_HUMAN	Q	85	ENSP00000371927:L85Q	ENSP00000371927:L85Q	L	+	2	0	GPR78	8633863	1.000000	0.71417	0.273000	0.24645	0.792000	0.44763	3.153000	0.50685	0.852000	0.35287	0.260000	0.18958	CTG		PASS	0.706	GPR78-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359201.1			7	3	7	3	---	---	---	---
PACRGL	133015	broad.mit.edu	37	4	20706339	20706339	+	Nonsense_Mutation	SNP	C	C	T			TCGA-66-2766-01A-01D-1522-08	TCGA-66-2766-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	452b75d0-1818-46aa-8804-9cfc0bd66449	81a4d615-e95e-4c17-87f7-c06d8dd4975a	g.chr4:20706339C>T	ENST00000503585.1	+	3	500	c.109C>T	c.(109-111)Cag>Tag	p.Q37*	PACRGL_ENST00000502938.1_Nonsense_Mutation_p.Q37*|PACRGL_ENST00000360916.5_Nonsense_Mutation_p.Q37*|PACRGL_ENST00000295290.8_Nonsense_Mutation_p.Q37*|PACRGL_ENST00000538990.1_Nonsense_Mutation_p.Q37*|PACRGL_ENST00000507634.1_Nonsense_Mutation_p.Q37*|PACRGL_ENST00000502374.1_Nonsense_Mutation_p.Q37*|PACRGL_ENST00000513459.1_Nonsense_Mutation_p.Q37*|PACRGL_ENST00000444671.2_Nonsense_Mutation_p.Q37*	NM_001258345.1	NP_001245274.1	Q8N7B6	PACRL_HUMAN	PARK2 co-regulated-like	37								p.Q37*(1)		endometrium(2)|lung(7)|prostate(1)	10						GAATGCAGTTCAGGGAAGCAA	0.388																																						uc010iek.2																			1	Substitution - Nonsense(1)		lung(1)		0						c.(109-111)CAG>TAG		PARK2 co-regulated-like isoform 1							153.0	138.0	143.0					4																	20706339		2203	4300	6503	SO:0001587	stop_gained	133015						binding	g.chr4:20706339C>T	AK098692	CCDS3427.1, CCDS47034.1, CCDS58895.1, CCDS58896.1	4p15.31	2008-10-02	2008-10-02	2008-10-02	ENSG00000163138	ENSG00000163138			28442	protein-coding gene	gene with protein product			"""chromosome 4 open reading frame 28"""	C4orf28		12477932	Standard	NM_145048		Approved	MGC29898	uc010iek.3	Q8N7B6	OTTHUMG00000128550	ENST00000503585.1:c.109C>T	4.37:g.20706339C>T	ENSP00000423881:p.Gln37*					PACRGL_uc003gpu.2_RNA|PACRGL_uc010iei.1_Nonsense_Mutation_p.Q85*|PACRGL_uc003gpz.2_Nonsense_Mutation_p.Q37*|PACRGL_uc011bxm.1_Nonsense_Mutation_p.Q37*|PACRGL_uc003gqa.2_Nonsense_Mutation_p.Q37*|PACRGL_uc003gpx.3_RNA|PACRGL_uc003gpv.2_Nonsense_Mutation_p.Q37*|PACRGL_uc003gpw.2_RNA|PACRGL_uc010iej.1_RNA|PACRGL_uc011bxn.1_Nonsense_Mutation_p.Q37*|PACRGL_uc003gpy.2_Nonsense_Mutation_p.Q37*	p.Q37*	NM_145048	NP_659485	Q8N7B6	PACRL_HUMAN			3	500	+			37					B2RDB9|B4DFF8|B4DMN7|Q8TBA8	Nonsense_Mutation	SNP	ENST00000503585.1	37	c.109C>T	CCDS58895.1	.	.	.	.	.	.	.	.	.	.	C	33	5.217812	0.95104	.	.	ENSG00000163138	ENST00000510051;ENST00000503585;ENST00000360916;ENST00000295290;ENST00000514485;ENST00000444671;ENST00000506745;ENST00000514663;ENST00000509469;ENST00000515339;ENST00000513861;ENST00000502374;ENST00000538990;ENST00000504630;ENST00000513590;ENST00000514292;ENST00000502938;ENST00000507634;ENST00000513459;ENST00000511089	.	.	.	5.65	5.65	0.86999	.	0.434403	0.22417	N	0.060332	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.07325	T	0.83	-9.2865	20.0965	0.97849	0.0:1.0:0.0:0.0	.	.	.	.	X	85;37;37;37;37;37;37;37;37;37;37;37;37;37;37;37;37;37;37;37	.	ENSP00000295290:Q37X	Q	+	1	0	PACRGL	20315437	0.210000	0.23517	0.432000	0.26747	0.054000	0.15201	3.560000	0.53763	2.824000	0.97209	0.655000	0.94253	CAG		PASS	0.388	PACRGL-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360321.2	NM_145048		46	87	46	87	---	---	---	---
PPARGC1A	10891	broad.mit.edu	37	4	23816007	23816007	+	Nonsense_Mutation	SNP	C	C	A			TCGA-66-2766-01A-01D-1522-08	TCGA-66-2766-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	452b75d0-1818-46aa-8804-9cfc0bd66449	81a4d615-e95e-4c17-87f7-c06d8dd4975a	g.chr4:23816007C>A	ENST00000264867.2	-	8	1218	c.1099G>T	c.(1099-1101)Gga>Tga	p.G367*	PPARGC1A_ENST00000509702.1_5'UTR	NM_013261.3	NP_037393.1	Q9UBK2	PRGC1_HUMAN	peroxisome proliferator-activated receptor gamma, coactivator 1 alpha	367	Mediates interaction with RNF34. {ECO:0000269|PubMed:22064484}.				androgen metabolic process (GO:0008209)|androgen receptor signaling pathway (GO:0030521)|brown fat cell differentiation (GO:0050873)|cellular glucose homeostasis (GO:0001678)|cellular respiration (GO:0045333)|cellular response to fatty acid (GO:0071398)|cellular response to hypoxia (GO:0071456)|cellular response to nitrite (GO:0071250)|cellular response to oxidative stress (GO:0034599)|cellular response to thyroid hormone stimulus (GO:0097067)|cellular response to tumor necrosis factor (GO:0071356)|circadian regulation of gene expression (GO:0032922)|digestion (GO:0007586)|fatty acid oxidation (GO:0019395)|flavone metabolic process (GO:0051552)|galactose metabolic process (GO:0006012)|gluconeogenesis (GO:0006094)|mitochondrion organization (GO:0007005)|mRNA processing (GO:0006397)|negative regulation of glycolytic process (GO:0045820)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of neuron death (GO:1901215)|negative regulation of receptor activity (GO:2000272)|positive regulation of ATP biosynthetic process (GO:2001171)|positive regulation of cellular respiration (GO:1901857)|positive regulation of energy homeostasis (GO:2000507)|positive regulation of fatty acid oxidation (GO:0046321)|positive regulation of gluconeogenesis (GO:0045722)|positive regulation of histone acetylation (GO:0035066)|positive regulation of mitochondrial DNA metabolic process (GO:1901860)|positive regulation of mitochondrion organization (GO:0010822)|positive regulation of muscle tissue development (GO:1901863)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein stabilization (GO:0050821)|regulation of circadian rhythm (GO:0042752)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of transcription, DNA-templated (GO:0006355)|respiratory electron transport chain (GO:0022904)|response to cold (GO:0009409)|response to epinephrine (GO:0071871)|response to leucine (GO:0043201)|response to muscle activity (GO:0014850)|response to norepinephrine (GO:0071873)|response to starvation (GO:0042594)|response to statin (GO:0036273)|RNA splicing (GO:0008380)|temperature homeostasis (GO:0001659)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytosol (GO:0005829)|DNA-directed RNA polymerase II, core complex (GO:0005665)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|chromatin DNA binding (GO:0031490)|DNA binding (GO:0003677)|ligand-dependent nuclear receptor binding (GO:0016922)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|nucleotide binding (GO:0000166)|RNA binding (GO:0003723)|RNA polymerase II transcription cofactor activity (GO:0001104)|sequence-specific DNA binding (GO:0043565)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|ubiquitin protein ligase binding (GO:0031625)	p.G367*(1)		central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|liver(1)|lung(24)|ovary(3)|skin(5)	51		Breast(46;0.0503)				TCCTCGTGTCCACCAGTGAGG	0.478																																					Esophageal Squamous(29;694 744 13796 34866 44181)	uc003gqs.2																			1	Substitution - Nonsense(1)		lung(1)	ovary(2)|lung(2)|kidney(2)|skin(2)	8						c.(1099-1101)GGA>TGA		peroxisome proliferator-activated receptor							100.0	105.0	104.0					4																	23816007		2203	4300	6503	SO:0001587	stop_gained	10891				androgen receptor signaling pathway|brown fat cell differentiation|cellular glucose homeostasis|digestion|fatty acid oxidation|gluconeogenesis|mitochondrion organization|mRNA processing|neuron death|positive regulation of fatty acid oxidation|positive regulation of gluconeogenesis|positive regulation of histone acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|protein complex assembly|protein stabilization|response to muscle activity|response to starvation|RNA splicing|temperature homeostasis|transcription initiation from RNA polymerase II promoter	DNA-directed RNA polymerase II, core complex	androgen receptor binding|DNA binding|ligand-dependent nuclear receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|nucleotide binding|RNA binding|RNA polymerase II transcription cofactor activity|transcription factor binding	g.chr4:23816007C>A	AF106698	CCDS3429.1	4p15.1	2013-02-12	2006-10-17	2004-02-04	ENSG00000109819	ENSG00000109819		"""RNA binding motif (RRM) containing"""	9237	protein-coding gene	gene with protein product		604517	"""peroxisome proliferative activated receptor, gamma, coactivator 1"", ""peroxisome proliferative activated receptor, gamma, coactivator 1, alpha"""	PPARGC1		10585775	Standard	NM_013261		Approved	PGC1, PGC1A	uc003gqs.3	Q9UBK2	OTTHUMG00000097747	ENST00000264867.2:c.1099G>T	4.37:g.23816007C>A	ENSP00000264867:p.Gly367*					PPARGC1A_uc003gqt.2_RNA|PPARGC1A_uc011bxp.1_RNA|PPARGC1A_uc010ier.1_RNA	p.G367*	NM_013261	NP_037393	Q9UBK2	PRGC1_HUMAN			8	1219	-		Breast(46;0.0503)	367					B7Z406|G8DM16|I3RTT5|I3RTT6|I3RTT7|I3RTT8|I3RTT9|Q3LIG1|Q4W5M7|Q9UN32	Nonsense_Mutation	SNP	ENST00000264867.2	37	c.1099G>T	CCDS3429.1	.	.	.	.	.	.	.	.	.	.	C	16.69	3.193436	0.58017	.	.	ENSG00000109819	ENST00000264867	.	.	.	6.16	6.16	0.99307	.	0.424874	0.30043	N	0.010546	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.28530	T	0.3	-9.749	14.9398	0.70983	0.0:0.9325:0.0:0.0675	.	.	.	.	X	367	.	ENSP00000264867:G367X	G	-	1	0	PPARGC1A	23425105	1.000000	0.71417	1.000000	0.80357	0.476000	0.33039	5.367000	0.66127	2.937000	0.99478	0.650000	0.86243	GGA		PASS	0.478	PPARGC1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214976.1	NM_013261		134	36	134	36	---	---	---	---
C4orf19	55286	broad.mit.edu	37	4	37592264	37592264	+	Missense_Mutation	SNP	G	G	A			TCGA-66-2766-01A-01D-1522-08	TCGA-66-2766-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	452b75d0-1818-46aa-8804-9cfc0bd66449	81a4d615-e95e-4c17-87f7-c06d8dd4975a	g.chr4:37592264G>A	ENST00000284437.6	+	3	765	c.587G>A	c.(586-588)gGa>gAa	p.G196E	C4orf19_ENST00000508175.1_Intron|RP11-36B15.1_ENST00000503034.1_RNA|C4orf19_ENST00000381980.4_Missense_Mutation_p.G196E	NM_018302.2	NP_060772.2	Q8IY42	CD019_HUMAN	chromosome 4 open reading frame 19	196								p.G196E(1)		large_intestine(1)|lung(3)|skin(3)|stomach(1)|urinary_tract(1)	9						GGCCCAGCTGGAGACAACGTT	0.493																																						uc003gsw.3																			1	Substitution - Missense(1)		lung(1)		0						c.(586-588)GGA>GAA		hypothetical protein LOC55286							60.0	61.0	61.0					4																	37592264		2203	4300	6503	SO:0001583	missense	55286							g.chr4:37592264G>A	BC037906	CCDS3442.1	4p14	2008-02-05			ENSG00000154274	ENSG00000154274			25618	protein-coding gene	gene with protein product						12477932	Standard	NM_001104629		Approved	FLJ11017	uc003gsw.4	Q8IY42	OTTHUMG00000128580	ENST00000284437.6:c.587G>A	4.37:g.37592264G>A	ENSP00000284437:p.Gly196Glu					C4orf19_uc003gsy.3_Missense_Mutation_p.G196E	p.G196E	NM_001104629	NP_001098099	Q8IY42	CD019_HUMAN			4	770	+			196					Q9NV03	Missense_Mutation	SNP	ENST00000284437.6	37	c.587G>A	CCDS3442.1	.	.	.	.	.	.	.	.	.	.	G	5.338	0.247615	0.10130	.	.	ENSG00000154274	ENST00000381980;ENST00000284437	T;T	0.30981	1.51;1.51	4.78	-9.56	0.00566	.	1.794880	0.03271	N	0.184767	T	0.11623	0.0283	N	0.03115	-0.41	0.09310	N	1	B	0.13145	0.007	B	0.10450	0.005	T	0.22871	-1.0204	10	0.31617	T	0.26	0.601	6.5219	0.22279	0.0877:0.3555:0.4342:0.1225	.	196	Q8IY42	CD019_HUMAN	E	196	ENSP00000371408:G196E;ENSP00000284437:G196E	ENSP00000284437:G196E	G	+	2	0	C4orf19	37268659	0.000000	0.05858	0.000000	0.03702	0.059000	0.15707	-0.716000	0.04991	-3.854000	0.00099	-0.282000	0.10007	GGA		PASS	0.493	C4orf19-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250432.1	NM_018302		32	81	32	81	---	---	---	---
TBC1D1	23216	broad.mit.edu	37	4	38117547	38117547	+	Missense_Mutation	SNP	A	A	T			TCGA-66-2766-01A-01D-1522-08	TCGA-66-2766-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	452b75d0-1818-46aa-8804-9cfc0bd66449	81a4d615-e95e-4c17-87f7-c06d8dd4975a	g.chr4:38117547A>T	ENST00000261439.4	+	16	3129	c.2774A>T	c.(2773-2775)cAg>cTg	p.Q925L	TBC1D1_ENST00000508802.1_Missense_Mutation_p.Q1019L|TBC1D1_ENST00000407365.1_3'UTR	NM_001253914.1|NM_001253915.1|NM_015173.3	NP_001240843.1|NP_001240844.1|NP_055988.2	Q86TI0	TBCD1_HUMAN	TBC1 (tre-2/USP6, BUB2, cdc16) domain family, member 1	925	Rab-GAP TBC. {ECO:0000255|PROSITE- ProRule:PRU00163}.				membrane organization (GO:0061024)|regulation of protein localization (GO:0032880)	cytosol (GO:0005829)|nucleus (GO:0005634)	Rab GTPase activator activity (GO:0005097)	p.Q925L(1)		NS(1)|breast(3)|kidney(1)|large_intestine(5)|lung(19)|ovary(2)|prostate(2)|skin(2)|urinary_tract(1)	36						CTGCGGAAACAGTATCGGCCA	0.408																																						uc003gtb.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(2773-2775)CAG>CTG		TBC1 (tre-2/USP6, BUB2, cdc16) domain family,							115.0	112.0	113.0					4																	38117547		2203	4300	6503	SO:0001583	missense	23216					nucleus	Rab GTPase activator activity	g.chr4:38117547A>T	AB029031	CCDS33972.1, CCDS58897.1	4p14	2013-07-09			ENSG00000065882	ENSG00000065882			11578	protein-coding gene	gene with protein product		609850				10965142, 18258599	Standard	NM_015173		Approved	TBC, TBC1, KIAA1108	uc003gtb.3	Q86TI0	OTTHUMG00000150302	ENST00000261439.4:c.2774A>T	4.37:g.38117547A>T	ENSP00000261439:p.Gln925Leu					TBC1D1_uc011byd.1_Missense_Mutation_p.Q1019L|TBC1D1_uc010ifd.2_Missense_Mutation_p.Q712L	p.Q925L	NM_015173	NP_055988	Q86TI0	TBCD1_HUMAN			16	3117	+			925			Rab-GAP TBC.		B7Z3D9|E9PGH8|Q96K82|Q9UPP4	Missense_Mutation	SNP	ENST00000261439.4	37	c.2774A>T	CCDS33972.1	.	.	.	.	.	.	.	.	.	.	A	23.0	4.361884	0.82353	.	.	ENSG00000065882	ENST00000508802;ENST00000261439;ENST00000454732	T;T	0.08896	3.04;3.04	5.29	5.29	0.74685	Rab-GAP/TBC domain (4);	0.000000	0.53938	D	0.000045	T	0.09423	0.0232	N	0.03084	-0.415	0.80722	D	1	D;D;D	0.89917	0.994;0.999;1.0	D;D;D	0.87578	0.988;0.998;0.994	T	0.26849	-1.0091	10	0.02654	T	1	-28.4052	15.5276	0.75923	1.0:0.0:0.0:0.0	.	1019;657;925	E9PGH8;Q6PJJ8;Q86TI0	.;.;TBCD1_HUMAN	L	1019;925;189	ENSP00000423651:Q1019L;ENSP00000261439:Q925L	ENSP00000261439:Q925L	Q	+	2	0	TBC1D1	37793942	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	8.865000	0.92300	2.136000	0.66102	0.459000	0.35465	CAG		PASS	0.408	TBC1D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317443.2	NM_015173		42	110	42	110	---	---	---	---
FAM114A1	92689	broad.mit.edu	37	4	38907442	38907442	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2766-01A-01D-1522-08	TCGA-66-2766-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	452b75d0-1818-46aa-8804-9cfc0bd66449	81a4d615-e95e-4c17-87f7-c06d8dd4975a	g.chr4:38907442G>T	ENST00000358869.2	+	6	793	c.617G>T	c.(616-618)cGg>cTg	p.R206L	FAM114A1_ENST00000515037.1_5'UTR	NM_138389.2	NP_612398.2	Q8IWE2	NXP20_HUMAN	family with sequence similarity 114, member A1	206						cytoplasm (GO:0005737)		p.R206L(1)		haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(8)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	20						TCAGCCTCTCGGGGTATGCTG	0.488																																						uc003gtn.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(616-618)CGG>CTG		hypothetical protein LOC92689							53.0	48.0	50.0					4																	38907442		2203	4300	6503	SO:0001583	missense	92689					cytoplasm		g.chr4:38907442G>T		CCDS3447.1	4p14	2006-09-21			ENSG00000197712	ENSG00000197712			25087	protein-coding gene	gene with protein product							Standard	NM_138389		Approved	Noxp20	uc003gtn.3	Q8IWE2	OTTHUMG00000128583	ENST00000358869.2:c.617G>T	4.37:g.38907442G>T	ENSP00000351740:p.Arg206Leu					FAM114A1_uc011byh.1_5'UTR	p.R206L	NM_138389	NP_612398	Q8IWE2	NXP20_HUMAN			6	793	+			206					A8K9W6|Q6MZV4|Q9BVL6	Missense_Mutation	SNP	ENST00000358869.2	37	c.617G>T	CCDS3447.1	.	.	.	.	.	.	.	.	.	.	G	9.381	1.073005	0.20147	.	.	ENSG00000197712	ENST00000358869	T	0.39406	1.08	5.38	5.38	0.77491	.	0.120891	0.53938	D	0.000055	T	0.55162	0.1903	L	0.43923	1.385	0.58432	D	0.999997	D	0.89917	1.0	D	0.97110	1.0	T	0.39502	-0.9611	10	0.10636	T	0.68	-14.621	18.4834	0.90820	0.0:0.0:1.0:0.0	.	206	Q8IWE2	NXP20_HUMAN	L	206	ENSP00000351740:R206L	ENSP00000351740:R206L	R	+	2	0	FAM114A1	38583837	1.000000	0.71417	0.984000	0.44739	0.222000	0.24845	5.072000	0.64389	2.693000	0.91896	0.655000	0.94253	CGG		PASS	0.488	FAM114A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250436.1	NM_138389		55	60	55	60	---	---	---	---
KLB	152831	broad.mit.edu	37	4	39409024	39409024	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2766-01A-01D-1522-08	TCGA-66-2766-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	452b75d0-1818-46aa-8804-9cfc0bd66449	81a4d615-e95e-4c17-87f7-c06d8dd4975a	g.chr4:39409024C>T	ENST00000257408.4	+	1	552	c.455C>T	c.(454-456)tCa>tTa	p.S152L		NM_175737.3	NP_783864.1	Q86Z14	KLOTB_HUMAN	klotho beta	152	Glycosyl hydrolase-1 1.				carbohydrate metabolic process (GO:0005975)|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)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell proliferation (GO:0008284)|positive regulation of MAPKKK cascade by fibroblast growth factor receptor signaling pathway (GO:0090080)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	fibroblast growth factor binding (GO:0017134)|hydrolase activity, hydrolyzing O-glycosyl compounds (GO:0004553)	p.S152L(1)		NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(11)|skin(6)	29						TATCAATTTTCAATTTCCTGG	0.403																																						uc003gua.2																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(454-456)TCA>TTA		klotho beta							72.0	80.0	78.0					4																	39409024		2203	4299	6502	SO:0001583	missense	152831				carbohydrate metabolic process	integral to membrane|plasma membrane	cation binding|fibroblast growth factor binding|hydrolase activity, hydrolyzing O-glycosyl compounds	g.chr4:39409024C>T	AB079373	CCDS3451.1	4p14	2008-02-05			ENSG00000134962	ENSG00000134962			15527	protein-coding gene	gene with protein product		611135					Standard	NM_175737		Approved		uc003gua.3	Q86Z14	OTTHUMG00000128577	ENST00000257408.4:c.455C>T	4.37:g.39409024C>T	ENSP00000257408:p.Ser152Leu					KLB_uc011byj.1_Missense_Mutation_p.S152L	p.S152L	NM_175737	NP_783864	Q86Z14	KLOTB_HUMAN			1	552	+			152			Extracellular (Potential).|Glycosyl hydrolase-1 1.		Q2M3K8	Missense_Mutation	SNP	ENST00000257408.4	37	c.455C>T	CCDS3451.1	.	.	.	.	.	.	.	.	.	.	C	22.0	4.227807	0.79576	.	.	ENSG00000134962	ENST00000257408	T	0.58358	0.34	4.86	4.02	0.46733	Glycoside hydrolase, subgroup, catalytic domain (1);Glycoside hydrolase, superfamily (1);	0.000000	0.85682	D	0.000000	T	0.80670	0.4667	H	0.97186	3.955	0.52501	D	0.999952	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.86186	0.1609	10	0.87932	D	0	-11.9311	12.9948	0.58640	0.0:0.9208:0.0:0.0792	.	152;152	B7ZL50;Q86Z14	.;KLOTB_HUMAN	L	152	ENSP00000257408:S152L	ENSP00000257408:S152L	S	+	2	0	KLB	39085419	1.000000	0.71417	0.994000	0.49952	0.965000	0.64279	7.818000	0.86416	1.036000	0.39998	0.467000	0.42956	TCA		PASS	0.403	KLB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250429.1	NM_175737		79	268	79	268	---	---	---	---
ATP10D	57205	broad.mit.edu	37	4	47538480	47538480	+	Missense_Mutation	SNP	G	G	A			TCGA-66-2766-01A-01D-1522-08	TCGA-66-2766-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	452b75d0-1818-46aa-8804-9cfc0bd66449	81a4d615-e95e-4c17-87f7-c06d8dd4975a	g.chr4:47538480G>A	ENST00000273859.3	+	8	1311	c.1042G>A	c.(1042-1044)Gaa>Aaa	p.E348K	ATP10D_ENST00000504445.1_Missense_Mutation_p.E348K	NM_020453.3	NP_065186.3	Q9P241	AT10D_HUMAN	ATPase, class V, type 10D	348					cation transport (GO:0006812)|ion transmembrane transport (GO:0034220)|phospholipid translocation (GO:0045332)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)	p.E348K(1)		NS(2)|endometrium(5)|kidney(5)|large_intestine(14)|liver(2)|lung(26)|ovary(2)|pancreas(1)|prostate(5)|skin(2)|stomach(1)|urinary_tract(1)	66						GAGCAGGTATGAAAAGATGCA	0.353																																						uc003gxk.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)|pancreas(1)	3						c.(1042-1044)GAA>AAA		ATPase, class V, type 10D							241.0	240.0	240.0					4																	47538480		2203	4300	6503	SO:0001583	missense	57205				ATP biosynthetic process|cation transport	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr4:47538480G>A	AB040920	CCDS3476.1	4p12	2010-04-20	2007-09-19		ENSG00000145246	ENSG00000145246		"""ATPases / P-type"""	13549	protein-coding gene	gene with protein product			"""ATPase, Class V, type 10D"""			12532265	Standard	NM_020453		Approved	ATPVD, KIAA1487	uc003gxk.1	Q9P241	OTTHUMG00000160784	ENST00000273859.3:c.1042G>A	4.37:g.47538480G>A	ENSP00000273859:p.Glu348Lys					ATP10D_uc003gxl.1_5'UTR|ATP10D_uc003gxj.3_Missense_Mutation_p.E348K	p.E348K	NM_020453	NP_065186	Q9P241	AT10D_HUMAN			8	1206	+			348			Extracellular (Potential).		A2RRC8|D6REN2|Q8NC70|Q96SR3	Missense_Mutation	SNP	ENST00000273859.3	37	c.1042G>A	CCDS3476.1	.	.	.	.	.	.	.	.	.	.	G	7.337	0.620202	0.14193	.	.	ENSG00000145246	ENST00000273859;ENST00000504445	T;D	0.88354	0.99;-2.37	5.46	4.61	0.57282	ATPase, P-type, ATPase-associated domain (1);	0.345645	0.30320	N	0.009889	T	0.72407	0.3456	N	0.11255	0.115	0.09310	N	1	B;B	0.06786	0.0;0.001	B;B	0.12837	0.008;0.005	T	0.54622	-0.8266	10	0.12430	T	0.62	-15.2759	3.9545	0.09383	0.086:0.1497:0.5869:0.1774	.	348;348	Q9P241;Q6PEW3	AT10D_HUMAN;.	K	348	ENSP00000273859:E348K;ENSP00000420909:E348K	ENSP00000273859:E348K	E	+	1	0	ATP10D	47233237	0.001000	0.12720	0.867000	0.34043	0.125000	0.20455	0.463000	0.21972	2.577000	0.86979	0.655000	0.94253	GAA		PASS	0.353	ATP10D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216900.1	NM_020453		125	350	125	350	---	---	---	---
MUC7	4589	broad.mit.edu	37	4	71346520	71346520	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2766-01A-01D-1522-08	TCGA-66-2766-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	452b75d0-1818-46aa-8804-9cfc0bd66449	81a4d615-e95e-4c17-87f7-c06d8dd4975a	g.chr4:71346520G>T	ENST00000304887.5	+	3	249	c.59G>T	c.(58-60)aGt>aTt	p.S20I	MUC7_ENST00000456088.1_Missense_Mutation_p.S20I|MUC7_ENST00000413702.1_Missense_Mutation_p.S20I|MUC7_ENST00000514512.1_3'UTR	NM_152291.2	NP_689504.2	Q8TAX7	MUC7_HUMAN	mucin 7, secreted	20					cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)		p.S20I(1)		central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(2)|lung(23)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	42			Lung(101;0.211)			ctgcagTTCAGTGAAGGTCGA	0.398																																						uc011cat.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)|central_nervous_system(1)|skin(1)	4						c.(58-60)AGT>ATT		mucin 7, secreted precursor							106.0	105.0	105.0					4																	71346520		2203	4300	6503	SO:0001583	missense	4589					extracellular region	protein binding	g.chr4:71346520G>T	BC025688	CCDS3541.1	4q13.3	2008-02-05	2006-03-14		ENSG00000171195	ENSG00000171195		"""Mucins"""	7518	protein-coding gene	gene with protein product		158375	"""mucin 7, salivary"""			8838308	Standard	NM_152291		Approved	FLJ27047, MG2	uc003hfj.3	Q8TAX7	OTTHUMG00000129916	ENST00000304887.5:c.59G>T	4.37:g.71346520G>T	ENSP00000302021:p.Ser20Ile					MUC7_uc011cau.1_Missense_Mutation_p.S20I|MUC7_uc003hfj.2_Missense_Mutation_p.S20I	p.S20I	NM_001145006	NP_001138478	Q8TAX7	MUC7_HUMAN	Lung(101;0.211)		4	347	+			20					Q9UCD7|Q9UCD8	Missense_Mutation	SNP	ENST00000304887.5	37	c.59G>T	CCDS3541.1	.	.	.	.	.	.	.	.	.	.	G	11.05	1.524422	0.27299	.	.	ENSG00000171195	ENST00000413702;ENST00000505411;ENST00000456088;ENST00000304887	T;T;T;T	0.54866	0.57;0.55;0.57;0.57	3.85	3.01	0.34805	.	.	.	.	.	T	0.54240	0.1846	N	0.24115	0.695	0.23107	N	0.998289	D	0.71674	0.998	D	0.68943	0.961	T	0.37865	-0.9687	9	0.87932	D	0	-6.8872	7.4265	0.27102	0.1183:0.0:0.8817:0.0	.	20	Q8TAX7	MUC7_HUMAN	I	20	ENSP00000407422:S20I;ENSP00000427594:S20I;ENSP00000400585:S20I;ENSP00000302021:S20I	ENSP00000302021:S20I	S	+	2	0	MUC7	71381109	1.000000	0.71417	0.972000	0.41901	0.425000	0.31504	1.866000	0.39489	1.201000	0.43203	0.655000	0.94253	AGT		PASS	0.398	MUC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252168.2	NM_152291		62	151	62	151	---	---	---	---
DCK	1633	broad.mit.edu	37	4	71895091	71895091	+	Missense_Mutation	SNP	T	T	G			TCGA-66-2766-01A-01D-1522-08	TCGA-66-2766-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	452b75d0-1818-46aa-8804-9cfc0bd66449	81a4d615-e95e-4c17-87f7-c06d8dd4975a	g.chr4:71895091T>G	ENST00000286648.5	+	7	1176	c.779T>G	c.(778-780)tTg>tGg	p.L260W	DCK_ENST00000504730.1_3'UTR|DCK_ENST00000504952.1_Missense_Mutation_p.F292L	NM_000788.2	NP_000779.1	P27707	DCK_HUMAN	deoxycytidine kinase	260					deoxyribonucleoside monophosphate biosynthetic process (GO:0009157)|nucleobase-containing small molecule metabolic process (GO:0055086)|nucleotide biosynthetic process (GO:0009165)|purine nucleobase metabolic process (GO:0006144)|purine-containing compound salvage (GO:0043101)|pyrimidine nucleobase metabolic process (GO:0006206)|pyrimidine nucleoside salvage (GO:0043097)|pyrimidine nucleotide metabolic process (GO:0006220)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|deoxycytidine kinase activity (GO:0004137)|drug binding (GO:0008144)|nucleoside kinase activity (GO:0019206)|protein homodimerization activity (GO:0042803)	p.L260W(1)		endometrium(2)|large_intestine(3)|lung(3)|ovary(1)	9			Lung(101;0.235)		Cladribine(DB00242)|Clofarabine(DB00631)|Cytarabine(DB00987)|Decitabine(DB01262)|Emtricitabine(DB00879)|Fludarabine(DB01073)|Gemcitabine(DB00441)|Lamivudine(DB00709)|Nelarabine(DB01280)|Pemetrexed(DB00642)|Zalcitabine(DB00943)	TTGAGTACTTTGTGATCTTGC	0.323																																						uc003hfx.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(778-780)TTG>TGG		deoxycytidine kinase	Cladribine(DB00242)|Clofarabine(DB00631)|Decitabine(DB01262)|Fludarabine(DB01073)|Gemcitabine(DB00441)|Pemetrexed(DB00642)|Zalcitabine(DB00943)						79.0	77.0	78.0					4																	71895091		2203	4300	6503	SO:0001583	missense	1633				purine base metabolic process|purine-containing compound salvage|pyrimidine base metabolic process|pyrimidine nucleoside salvage|pyrimidine nucleotide metabolic process	cytosol|nucleus	ATP binding|deoxycytidine kinase activity|drug binding|phosphotransferase activity, alcohol group as acceptor|protein homodimerization activity	g.chr4:71895091T>G	M60527	CCDS3548.1	4q13.3-q21.1	2008-02-05			ENSG00000156136	ENSG00000156136	2.7.1.74		2704	protein-coding gene	gene with protein product		125450				8406512	Standard	NM_000788		Approved		uc003hfx.3	P27707	OTTHUMG00000129908	ENST00000286648.5:c.779T>G	4.37:g.71895091T>G	ENSP00000286648:p.Leu260Trp					DCK_uc011cbb.1_Missense_Mutation_p.L188W	p.L260W	NM_000788	NP_000779	P27707	DCK_HUMAN	Lung(101;0.235)		7	1067	+			260					B2R8V6|Q5TZY7|Q6FI11	Missense_Mutation	SNP	ENST00000286648.5	37	c.779T>G	CCDS3548.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	24.5|24.5	4.534275|4.534275	0.85812|0.85812	.|.	.|.	ENSG00000156136|ENSG00000156136	ENST00000504952|ENST00000286648	D|D	0.99143|0.99292	-5.48|-5.7	5.78|5.78	5.78|5.78	0.91487|0.91487	.|.	.|0.160000	.|0.41823	.|D	.|0.000806	D|D	0.99245|0.99245	0.9737|0.9737	M|M	0.78637|0.78637	2.42|2.42	0.30182|0.30182	N|N	0.800348|0.800348	.|D	.|0.89917	.|1.0	.|D	.|0.63192	.|0.912	D|D	0.98175|0.98175	1.0454|1.0454	7|10	0.87932|0.87932	D|D	0|0	.|.	14.6806|14.6806	0.69015|0.69015	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	.|260	.|P27707	.|DCK_HUMAN	L|W	292|260	ENSP00000421508:F292L|ENSP00000286648:L260W	ENSP00000421508:F292L|ENSP00000286648:L260W	F|L	+|+	3|2	2|0	DCK|DCK	72113955|72113955	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.990000|0.990000	0.78478|0.78478	6.259000|6.259000	0.72494|0.72494	2.210000|2.210000	0.71456|0.71456	0.482000|0.482000	0.46254|0.46254	TTT|TTG		PASS	0.323	DCK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252159.2			33	109	33	109	---	---	---	---
PRKG2	5593	broad.mit.edu	37	4	82096031	82096031	+	Nonsense_Mutation	SNP	C	C	A			TCGA-66-2766-01A-01D-1522-08	TCGA-66-2766-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	452b75d0-1818-46aa-8804-9cfc0bd66449	81a4d615-e95e-4c17-87f7-c06d8dd4975a	g.chr4:82096031C>A	ENST00000395578.1	-	3	660	c.544G>T	c.(544-546)Gaa>Taa	p.E182*	PRKG2_ENST00000418486.2_Nonsense_Mutation_p.E182*|RP11-100N20.1_ENST00000505175.1_RNA|PRKG2_ENST00000264399.1_Nonsense_Mutation_p.E182*|RP11-100N20.1_ENST00000512502.1_RNA			Q13237	KGP2_HUMAN	protein kinase, cGMP-dependent, type II	182					blood coagulation (GO:0007596)|circadian regulation of gene expression (GO:0032922)|nitric oxide metabolic process (GO:0046209)|protein phosphorylation (GO:0006468)|regulation of nitric-oxide synthase activity (GO:0050999)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cGMP binding (GO:0030553)|cGMP-dependent protein kinase activity (GO:0004692)|protein kinase activity (GO:0004672)	p.E182*(2)		NS(1)|breast(4)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(7)|lung(14)|ovary(1)|skin(2)	37						TACATGCATTCCACCATGTCT	0.403																																						uc003hmh.2																			2	Substitution - Nonsense(2)		lung(2)	breast(3)|central_nervous_system(2)|ovary(1)|large_intestine(1)	7						c.(544-546)GAA>TAA		protein kinase, cGMP-dependent, type II							175.0	172.0	173.0					4																	82096031		2203	4300	6503	SO:0001587	stop_gained	5593				platelet activation|signal transduction	cytosol	ATP binding|cGMP binding|cGMP-dependent protein kinase activity	g.chr4:82096031C>A	X94612	CCDS3589.1, CCDS75150.1	4q13.1-q21.1	2009-07-10			ENSG00000138669	ENSG00000138669	2.7.11.1		9416	protein-coding gene	gene with protein product		601591				7498513	Standard	XM_005263126		Approved	cGKII, PRKGR2	uc003hmh.2	Q13237	OTTHUMG00000130296	ENST00000395578.1:c.544G>T	4.37:g.82096031C>A	ENSP00000378945:p.Glu182*					PRKG2_uc011cch.1_Nonsense_Mutation_p.E182*	p.E182*	NM_006259	NP_006250	Q13237	KGP2_HUMAN			2	558	-			182			cGMP 1.		B4DMX3|E7EPE6|O00125|O60916	Nonsense_Mutation	SNP	ENST00000395578.1	37	c.544G>T	CCDS3589.1	.	.	.	.	.	.	.	.	.	.	C	39	7.843833	0.98522	.	.	ENSG00000138669	ENST00000395578;ENST00000264399;ENST00000418486	.	.	.	5.98	5.98	0.97165	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.56958	D	0.05	-30.5464	20.0471	0.97613	0.0:1.0:0.0:0.0	.	.	.	.	X	182	.	ENSP00000264399:E182X	E	-	1	0	PRKG2	82315055	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.269000	0.78482	2.838000	0.97847	0.591000	0.81541	GAA		PASS	0.403	PRKG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252639.1	NM_006259		91	246	91	246	---	---	---	---
CCSER1	401145	broad.mit.edu	37	4	91389426	91389426	+	Missense_Mutation	SNP	G	G	C			TCGA-66-2766-01A-01D-1522-08	TCGA-66-2766-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	452b75d0-1818-46aa-8804-9cfc0bd66449	81a4d615-e95e-4c17-87f7-c06d8dd4975a	g.chr4:91389426G>C	ENST00000509176.1	+	5	1933	c.1645G>C	c.(1645-1647)Gca>Cca	p.A549P	CCSER1_ENST00000333691.8_Missense_Mutation_p.A549P|CCSER1_ENST00000432775.2_Missense_Mutation_p.A549P	NM_001145065.1	NP_001138537.1	Q9C0I3	CCSE1_HUMAN	coiled-coil serine-rich protein 1	549								p.A549P(2)|p.A551P(1)									CTCATGTGCCGCAGTAGTTCT	0.373																																						uc003hsv.3																			3	Substitution - Missense(3)		lung(3)	large_intestine(1)|ovary(1)	2						c.(1645-1647)GCA>CCA		KIAA1680 protein isoform 1							79.0	76.0	77.0					4																	91389426		1846	4096	5942	SO:0001583	missense	401145							g.chr4:91389426G>C		CCDS47099.1, CCDS47100.1	4q22.1	2012-12-03	2012-12-03	2012-12-03	ENSG00000184305	ENSG00000184305			29349	protein-coding gene	gene with protein product			"""family with sequence similarity 190, member A"""	FAM190A		11214970	Standard	NM_001145065		Approved	KIAA1680	uc003hsv.4	Q9C0I3	OTTHUMG00000160950	ENST00000509176.1:c.1645G>C	4.37:g.91389426G>C	ENSP00000425040:p.Ala549Pro					FAM190A_uc010ikv.2_RNA|FAM190A_uc003hsw.2_Missense_Mutation_p.A549P	p.A549P	NM_001145065	NP_001138537	Q9C0I3	F190A_HUMAN			5	1985	+			549					Q4W5M0|Q86V57	Missense_Mutation	SNP	ENST00000509176.1	37	c.1645G>C	CCDS47099.1	.	.	.	.	.	.	.	.	.	.	G	15.17	2.752770	0.49362	.	.	ENSG00000184305	ENST00000509176;ENST00000432775;ENST00000333691;ENST00000458365	T;T;T	0.48201	1.37;0.82;1.37	4.63	4.63	0.57726	.	0.188140	0.46145	D	0.000301	T	0.58452	0.2123	L	0.40543	1.245	0.34583	D	0.714688	D;D	0.89917	0.999;1.0	D;D	0.75484	0.986;0.98	T	0.64343	-0.6430	10	0.33141	T	0.24	-10.411	15.2528	0.73561	0.0:0.0:1.0:0.0	.	549;549	Q9C0I3-2;Q9C0I3	.;F190A_HUMAN	P	549	ENSP00000425040:A549P;ENSP00000389283:A549P;ENSP00000329482:A549P	ENSP00000329482:A549P	A	+	1	0	FAM190A	91608449	1.000000	0.71417	0.504000	0.27639	0.257000	0.26127	5.103000	0.64578	2.514000	0.84764	0.467000	0.42956	GCA		PASS	0.373	CCSER1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363109.3	NM_001145065		17	44	17	44	---	---	---	---
MAP9	79884	broad.mit.edu	37	4	156294374	156294374	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2766-01A-01D-1522-08	TCGA-66-2766-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	452b75d0-1818-46aa-8804-9cfc0bd66449	81a4d615-e95e-4c17-87f7-c06d8dd4975a	g.chr4:156294374G>T	ENST00000311277.4	-	4	658	c.395C>A	c.(394-396)tCt>tAt	p.S132Y	MAP9_ENST00000515654.1_Missense_Mutation_p.S132Y|MAP9_ENST00000379248.2_Missense_Mutation_p.S60Y|AC097467.2_ENST00000596165.1_RNA	NM_001039580.1	NP_001034669.1	Q49MG5	MAP9_HUMAN	microtubule-associated protein 9	132					cytokinesis (GO:0000910)|regulation of mitosis (GO:0007088)|spindle assembly involved in mitosis (GO:0090307)	astral microtubule (GO:0000235)|mitotic spindle midzone (GO:1990023)		p.S132Y(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	26	all_hematologic(180;0.24)	Renal(120;0.0458)		COAD - Colon adenocarcinoma(41;0.143)		CTTATTTTGAGATTCAGAGAA	0.343																																						uc003ios.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.(394-396)TCT>TAT		aster-associated protein							77.0	78.0	78.0					4																	156294374		2203	4300	6503	SO:0001583	missense	79884				cell division|mitosis	cytoplasm|microtubule|spindle		g.chr4:156294374G>T	AK024812	CCDS35493.1	4q32.1	2008-02-05			ENSG00000164114	ENSG00000164114			26118	protein-coding gene	gene with protein product	"""aster-associated protein"""	610070				16049101	Standard	XM_006714306		Approved	ASAP, FLJ21159	uc003ios.3	Q49MG5	OTTHUMG00000133628	ENST00000311277.4:c.395C>A	4.37:g.156294374G>T	ENSP00000310593:p.Ser132Tyr					MAP9_uc011cin.1_Missense_Mutation_p.S132Y|MAP9_uc010iqa.1_RNA|MAP9_uc003iot.1_Missense_Mutation_p.S132Y|MAP9_uc010iqb.1_Missense_Mutation_p.S60Y	p.S132Y	NM_001039580	NP_001034669	Q49MG5	MAP9_HUMAN		COAD - Colon adenocarcinoma(41;0.143)	4	659	-	all_hematologic(180;0.24)	Renal(120;0.0458)	132					Q4W5I7|Q68DU1|Q9H781|Q9H7B6	Missense_Mutation	SNP	ENST00000311277.4	37	c.395C>A	CCDS35493.1	.	.	.	.	.	.	.	.	.	.	G	1.082	-0.666647	0.03428	.	.	ENSG00000164114	ENST00000311277;ENST00000515654;ENST00000433024;ENST00000393836;ENST00000379248	T;T;T;T	0.35789	2.13;2.13;1.4;1.29	5.51	2.7	0.31948	.	0.598110	0.16320	N	0.219618	T	0.48150	0.1484	M	0.63428	1.95	0.23916	N	0.996475	P;D;D;D	0.71674	0.815;0.998;0.986;0.986	B;D;P;P	0.63381	0.316;0.914;0.814;0.814	T	0.28299	-1.0048	10	0.66056	D	0.02	-1.6223	5.1976	0.15246	0.1817:0.1702:0.6481:0.0	.	132;60;132;132	B4DVG9;A8MSM7;B9EJB6;Q49MG5	.;.;.;MAP9_HUMAN	Y	132;132;132;132;60	ENSP00000310593:S132Y;ENSP00000427402:S132Y;ENSP00000394048:S132Y;ENSP00000368550:S60Y	ENSP00000310593:S132Y	S	-	2	0	MAP9	156513824	0.237000	0.23815	0.371000	0.25978	0.121000	0.20230	0.853000	0.27777	0.826000	0.34661	0.557000	0.71058	TCT		PASS	0.343	MAP9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257771.3	NM_001039580		4	214	4	214	---	---	---	---
GLRA3	8001	broad.mit.edu	37	4	175565062	175565062	+	Missense_Mutation	SNP	G	G	C	rs369207686		TCGA-66-2766-01A-01D-1522-08	TCGA-66-2766-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	452b75d0-1818-46aa-8804-9cfc0bd66449	81a4d615-e95e-4c17-87f7-c06d8dd4975a	g.chr4:175565062G>C	ENST00000274093.3	-	10	1772	c.1270C>G	c.(1270-1272)Cgg>Ggg	p.R424G	GLRA3_ENST00000340217.5_Missense_Mutation_p.R409G	NM_006529.2	NP_006520.2	O75311	GLRA3_HUMAN	glycine receptor, alpha 3	424					ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	extracellular-glycine-gated chloride channel activity (GO:0016934)|glycine binding (GO:0016594)|transmitter-gated ion channel activity (GO:0022824)	p.R424G(1)		endometrium(2)|kidney(1)|large_intestine(12)|lung(11)|ovary(3)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	35		Prostate(90;0.00601)|Breast(14;0.0091)|Melanoma(52;0.00959)|Renal(120;0.0183)|all_neural(102;0.0891)|all_hematologic(60;0.107)		all cancers(43;4.99e-18)|Epithelial(43;1.18e-16)|OV - Ovarian serous cystadenocarcinoma(60;5.88e-09)|STAD - Stomach adenocarcinoma(60;0.00442)|GBM - Glioblastoma multiforme(59;0.0102)|LUSC - Lung squamous cell carcinoma(193;0.0421)	Glycine(DB00145)|Ivermectin(DB00602)|Lindane(DB00431)	TTCTTGGCCCGGTCGATAAAG	0.428																																						uc003ity.1																			1	Substitution - Missense(1)		lung(1)	ovary(3)	3						c.(1270-1272)CGG>GGG		glycine receptor, alpha 3 isoform a	Glycine(DB00145)						152.0	133.0	140.0					4																	175565062		2203	4300	6503	SO:0001583	missense	8001				synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	extracellular-glycine-gated chloride channel activity|glycine binding|receptor activity|transmitter-gated ion channel activity	g.chr4:175565062G>C	AF017724	CCDS3822.1, CCDS43283.1	4q34.1	2012-02-07			ENSG00000145451	ENSG00000145451		"""Ligand-gated ion channels / Glycine receptors"""	4328	protein-coding gene	gene with protein product		600421				9677400	Standard	NM_001042543		Approved		uc003ity.1	O75311	OTTHUMG00000149816	ENST00000274093.3:c.1270C>G	4.37:g.175565062G>C	ENSP00000274093:p.Arg424Gly					GLRA3_uc003itz.1_Missense_Mutation_p.R409G	p.R424G	NM_006529	NP_006520	O75311	GLRA3_HUMAN		all cancers(43;4.99e-18)|Epithelial(43;1.18e-16)|OV - Ovarian serous cystadenocarcinoma(60;5.88e-09)|STAD - Stomach adenocarcinoma(60;0.00442)|GBM - Glioblastoma multiforme(59;0.0102)|LUSC - Lung squamous cell carcinoma(193;0.0421)	10	1773	-		Prostate(90;0.00601)|Breast(14;0.0091)|Melanoma(52;0.00959)|Renal(120;0.0183)|all_neural(102;0.0891)|all_hematologic(60;0.107)	424			Cytoplasmic (Probable).		D3DP44|O75816|Q5D0E3	Missense_Mutation	SNP	ENST00000274093.3	37	c.1270C>G	CCDS3822.1	.	.	.	.	.	.	.	.	.	.	G	14.42	2.530995	0.45073	.	.	ENSG00000145451	ENST00000274093;ENST00000340217	D;D	0.84516	-1.86;-1.86	5.83	0.11	0.14611	Neurotransmitter-gated ion-channel transmembrane domain (1);	0.049055	0.85682	D	0.000000	D	0.86682	0.5991	L	0.39147	1.195	0.58432	D	0.999993	P;B	0.52842	0.956;0.346	P;B	0.58013	0.831;0.092	D	0.86690	0.1922	10	0.62326	D	0.03	.	17.8698	0.88808	0.0:0.0:0.3762:0.6238	.	409;424	O75311-2;O75311	.;GLRA3_HUMAN	G	424;409	ENSP00000274093:R424G;ENSP00000345284:R409G	ENSP00000274093:R424G	R	-	1	2	GLRA3	175801637	1.000000	0.71417	0.914000	0.36105	0.994000	0.84299	0.640000	0.24705	0.045000	0.15804	0.591000	0.81541	CGG		PASS	0.428	GLRA3-001	KNOWN	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000313427.1			125	37	125	37	---	---	---	---
ASB5	140458	broad.mit.edu	37	4	177138037	177138037	+	Missense_Mutation	SNP	T	T	A			TCGA-66-2766-01A-01D-1522-08	TCGA-66-2766-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	452b75d0-1818-46aa-8804-9cfc0bd66449	81a4d615-e95e-4c17-87f7-c06d8dd4975a	g.chr4:177138037T>A	ENST00000296525.3	-	6	907	c.794A>T	c.(793-795)gAg>gTg	p.E265V	ASB5_ENST00000512254.1_Missense_Mutation_p.E212V	NM_080874.3	NP_543150.1	Q8WWX0	ASB5_HUMAN	ankyrin repeat and SOCS box containing 5	265					intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)			p.E265V(1)		endometrium(2)|kidney(1)|large_intestine(9)|lung(18)|prostate(2)|skin(2)	34		Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;2.13e-20)|Epithelial(43;9.94e-18)|OV - Ovarian serous cystadenocarcinoma(60;2e-09)|GBM - Glioblastoma multiforme(59;0.000254)|STAD - Stomach adenocarcinoma(60;0.000653)|LUSC - Lung squamous cell carcinoma(193;0.0393)		TCGCAGAAGCTCTGTATTTTT	0.378																																						uc003iuq.1																			1	Substitution - Missense(1)		lung(1)	skin(2)	2						c.(793-795)GAG>GTG		ankyrin repeat and SOCS box-containing protein							201.0	189.0	193.0					4																	177138037		2203	4300	6503	SO:0001583	missense	140458				intracellular signal transduction			g.chr4:177138037T>A	AY057053	CCDS3827.1	4q34.1	2013-01-10	2011-01-25		ENSG00000164122	ENSG00000164122		"""Ankyrin repeat domain containing"""	17180	protein-coding gene	gene with protein product		615050	"""ankyrin repeat and SOCS box-containing 5"""				Standard	NM_080874		Approved		uc003iuq.2	Q8WWX0	OTTHUMG00000160793	ENST00000296525.3:c.794A>T	4.37:g.177138037T>A	ENSP00000296525:p.Glu265Val					ASB5_uc003iup.1_Missense_Mutation_p.E212V	p.E265V	NM_080874	NP_543150	Q8WWX0	ASB5_HUMAN		all cancers(43;2.13e-20)|Epithelial(43;9.94e-18)|OV - Ovarian serous cystadenocarcinoma(60;2e-09)|GBM - Glioblastoma multiforme(59;0.000254)|STAD - Stomach adenocarcinoma(60;0.000653)|LUSC - Lung squamous cell carcinoma(193;0.0393)	6	810	-		Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)	265					Q8N7B5	Missense_Mutation	SNP	ENST00000296525.3	37	c.794A>T	CCDS3827.1	.	.	.	.	.	.	.	.	.	.	T	18.48	3.633739	0.67130	.	.	ENSG00000164122	ENST00000296525;ENST00000512254	T;T	0.53640	0.61;0.61	5.45	5.45	0.79879	Ankyrin repeat-containing domain (3);	0.283358	0.44688	D	0.000435	T	0.51024	0.1650	L	0.57130	1.785	0.58432	D	0.999992	B;P	0.34815	0.101;0.47	B;B	0.39503	0.107;0.301	T	0.55471	-0.8136	10	0.66056	D	0.02	-5.5351	15.8133	0.78581	0.0:0.0:0.0:1.0	.	265;212	Q8WWX0;Q8N7B5	ASB5_HUMAN;.	V	265;212	ENSP00000296525:E265V;ENSP00000422877:E212V	ENSP00000296525:E265V	E	-	2	0	ASB5	177375031	1.000000	0.71417	0.905000	0.35620	0.946000	0.59487	5.573000	0.67417	2.190000	0.69967	0.482000	0.46254	GAG		PASS	0.378	ASB5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362344.1			159	49	159	49	---	---	---	---
PRIMPOL	201973	broad.mit.edu	37	4	185578371	185578371	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2766-01A-01D-1522-08	TCGA-66-2766-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	452b75d0-1818-46aa-8804-9cfc0bd66449	81a4d615-e95e-4c17-87f7-c06d8dd4975a	g.chr4:185578371C>T	ENST00000314970.6	+	3	510	c.77C>T	c.(76-78)tCa>tTa	p.S26L	PRIMPOL_ENST00000515774.1_Intron|PRIMPOL_ENST00000503752.1_Missense_Mutation_p.S26L|PRIMPOL_ENST00000512834.1_Missense_Mutation_p.S26L	NM_152683.2	NP_689896	Q96LW4	PRIPO_HUMAN	primase and polymerase (DNA-directed)	26					mitochondrial DNA replication (GO:0006264)|replication fork processing (GO:0031297)|response to UV (GO:0009411)|translesion synthesis (GO:0019985)	mitochondrial matrix (GO:0005759)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA primase activity (GO:0003896)|DNA-directed DNA polymerase activity (GO:0003887)|manganese ion binding (GO:0030145)	p.S26L(2)									CCGTTGTCCTCAGTGTATAGA	0.393																																						uc003iwk.2																			2	Substitution - Missense(2)		lung(1)|endometrium(1)	central_nervous_system(1)	1						c.(76-78)TCA>TTA		coiled-coil domain containing 111							136.0	124.0	128.0					4																	185578371		2203	4300	6503	SO:0001583	missense	201973				DNA replication, synthesis of RNA primer		DNA primase activity	g.chr4:185578371C>T	AK057729	CCDS3837.1, CCDS75211.1, CCDS75212.1	4q35.1	2013-09-27	2013-09-27	2013-09-27	ENSG00000164306	ENSG00000164306			26575	protein-coding gene	gene with protein product		615421	"""coiled-coil domain containing 111"""	CCDC111		12477932	Standard	XM_005262814		Approved	FLJ33167	uc003iwk.2	Q96LW4	OTTHUMG00000160495	ENST00000314970.6:c.77C>T	4.37:g.185578371C>T	ENSP00000313816:p.Ser26Leu					CCDC111_uc010isd.1_RNA|CCDC111_uc003iwj.2_Missense_Mutation_p.S26L|CCDC111_uc003iwl.2_Missense_Mutation_p.S26L|CCDC111_uc003iwm.2_Intron|CCDC111_uc003iwn.2_5'UTR	p.S26L	NM_152683	NP_689896	Q96LW4	CC111_HUMAN		all cancers(43;5.84e-27)|Epithelial(43;2.2e-23)|OV - Ovarian serous cystadenocarcinoma(60;4.28e-11)|STAD - Stomach adenocarcinoma(60;2.66e-05)|GBM - Glioblastoma multiforme(59;3.03e-05)|Colorectal(24;7.57e-05)|BRCA - Breast invasive adenocarcinoma(30;0.000249)|COAD - Colon adenocarcinoma(29;0.000502)|LUSC - Lung squamous cell carcinoma(40;0.00995)|READ - Rectum adenocarcinoma(43;0.173)	3	510	+		all_lung(41;9.65e-12)|Lung NSC(41;1.64e-11)|Colorectal(36;0.00531)|Hepatocellular(41;0.00932)|Renal(120;0.0246)|Prostate(90;0.0283)|all_hematologic(60;0.0749)|all_neural(102;0.131)	26					D3DP55|D6RDM1|Q5HYJ9	Missense_Mutation	SNP	ENST00000314970.6	37	c.77C>T	CCDS3837.1	.	.	.	.	.	.	.	.	.	.	C	11.92	1.781811	0.31502	.	.	ENSG00000164306	ENST00000314970;ENST00000503752;ENST00000512834	T;T;T	0.30182	1.54;1.54;1.54	5.64	1.96	0.26148	.	0.696263	0.14622	N	0.308344	T	0.21881	0.0527	L	0.50333	1.59	0.09310	N	1	B;P	0.36086	0.391;0.536	B;B	0.30646	0.079;0.118	T	0.16247	-1.0409	10	0.52906	T	0.07	-18.1425	4.0659	0.09859	0.2556:0.4723:0.0:0.2721	.	26;26	Q96LW4;D6RDM1	CC111_HUMAN;.	L	26	ENSP00000313816:S26L;ENSP00000420860:S26L;ENSP00000425316:S26L	ENSP00000313816:S26L	S	+	2	0	CCDC111	185815365	0.000000	0.05858	0.074000	0.20217	0.769000	0.43574	0.593000	0.23999	0.050000	0.15949	-0.136000	0.14681	TCA		PASS	0.393	PRIMPOL-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000360827.1	NM_152683		93	31	93	31	---	---	---	---
FAM149A	25854	broad.mit.edu	37	4	187074888	187074888	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2766-01A-01D-1522-08	TCGA-66-2766-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	452b75d0-1818-46aa-8804-9cfc0bd66449	81a4d615-e95e-4c17-87f7-c06d8dd4975a	g.chr4:187074888C>A	ENST00000356371.5	+	5	1049	c.1049C>A	c.(1048-1050)cCg>cAg	p.P350Q	FAM149A_ENST00000502970.1_Missense_Mutation_p.P59Q|FAM149A_ENST00000514153.1_Missense_Mutation_p.P59Q|FAM149A_ENST00000389354.5_Missense_Mutation_p.P59Q|FAM149A_ENST00000514829.1_3'UTR|FAM149A_ENST00000227065.4_Missense_Mutation_p.P59Q|FAM149A_ENST00000503432.1_Missense_Mutation_p.P59Q			A5PLN7	F149A_HUMAN	family with sequence similarity 149, member A	350								p.P59Q(1)		breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(8)|lung(8)|pancreas(1)|prostate(1)|skin(2)	25		all_cancers(14;4.27e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.0066)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243)		OV - Ovarian serous cystadenocarcinoma(60;1.19e-10)|BRCA - Breast invasive adenocarcinoma(30;1.22e-05)|GBM - Glioblastoma multiforme(59;0.000122)|STAD - Stomach adenocarcinoma(60;0.000288)|LUSC - Lung squamous cell carcinoma(40;0.00241)|READ - Rectum adenocarcinoma(43;0.166)		CACAGACCCCCGCTCAGTGCC	0.493																																						uc003iyt.3																			1	Substitution - Missense(1)		lung(1)	breast(1)	1						c.(175-177)CCG>CAG		hypothetical protein LOC25854							114.0	124.0	120.0					4																	187074888		2203	4300	6503	SO:0001583	missense	25854							g.chr4:187074888C>A	AK057166	CCDS34117.1	4q35.1	2012-04-19			ENSG00000109794	ENSG00000109794			24527	protein-coding gene	gene with protein product							Standard	NM_015398		Approved	DKFZP564J102, MST119, MSTP119	uc010isl.3	A5PLN7	OTTHUMG00000160565	ENST00000356371.5:c.1049C>A	4.37:g.187074888C>A	ENSP00000348732:p.Pro350Gln					FAM149A_uc011cla.1_Missense_Mutation_p.P59Q|FAM149A_uc010isj.2_Missense_Mutation_p.P59Q|FAM149A_uc010isk.2_RNA|FAM149A_uc003iyu.3_Missense_Mutation_p.P59Q|FAM149A_uc010isl.2_Missense_Mutation_p.P59Q|FAM149A_uc011clb.1_Missense_Mutation_p.P59Q	p.P59Q	NM_015398	NP_056213	A5PLN7	F149A_HUMAN		OV - Ovarian serous cystadenocarcinoma(60;1.19e-10)|BRCA - Breast invasive adenocarcinoma(30;1.22e-05)|GBM - Glioblastoma multiforme(59;0.000122)|STAD - Stomach adenocarcinoma(60;0.000288)|LUSC - Lung squamous cell carcinoma(40;0.00241)|READ - Rectum adenocarcinoma(43;0.166)	5	755	+		all_cancers(14;4.27e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.0066)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243)	350					B5MDB8|Q2TAN6|Q7Z2S5|Q9Y4T9	Missense_Mutation	SNP	ENST00000356371.5	37	c.176C>A		.	.	.	.	.	.	.	.	.	.	C	13.86	2.363767	0.41902	.	.	ENSG00000109794	ENST00000503432;ENST00000356371;ENST00000504330;ENST00000510790;ENST00000227065;ENST00000502970;ENST00000514153;ENST00000389354	T;T;T;T;T;T;T;T	0.40225	1.04;1.04;1.04;1.04;1.04;1.04;1.04;1.04	5.36	-3.01	0.05463	.	1.942200	0.02428	N	0.083319	T	0.39091	0.1065	N	0.22421	0.69	0.09310	N	1	P;P;P	0.52692	0.955;0.952;0.878	P;P;P	0.50490	0.511;0.642;0.459	T	0.46020	-0.9221	10	0.28530	T	0.3	0.2463	11.928	0.52831	0.0:0.4267:0.0:0.5733	.	350;350;59	A5PLN7-3;A5PLN7;B4DHZ9	.;F149A_HUMAN;.	Q	59;350;59;59;59;59;59;59	ENSP00000426835:P59Q;ENSP00000348732:P350Q;ENSP00000422330:P59Q;ENSP00000421713:P59Q;ENSP00000227065:P59Q;ENSP00000427155:P59Q;ENSP00000424380:P59Q;ENSP00000374005:P59Q	ENSP00000227065:P59Q	P	+	2	0	FAM149A	187311882	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.416000	0.21198	-0.393000	0.07739	-0.156000	0.13503	CCG		PASS	0.493	FAM149A-201	KNOWN	basic	protein_coding	protein_coding		NM_001006655		136	61	136	61	---	---	---	---
PLEKHG4B	153478	broad.mit.edu	37	5	171336	171336	+	Missense_Mutation	SNP	A	A	G			TCGA-66-2766-01A-01D-1522-08	TCGA-66-2766-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	452b75d0-1818-46aa-8804-9cfc0bd66449	81a4d615-e95e-4c17-87f7-c06d8dd4975a	g.chr5:171336A>G	ENST00000283426.6	+	14	2809	c.2759A>G	c.(2758-2760)cAg>cGg	p.Q920R		NM_052909.3	NP_443141.3	Q96PX9	PKH4B_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 4B	920	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.						Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.Q111R(1)|p.Q920R(1)		endometrium(1)|large_intestine(2)|lung(2)|prostate(3)|skin(3)	11			all cancers(22;0.0253)|Lung(60;0.113)	Kidney(1;0.119)		CAGGACAAGCAGCGGGAGCTA	0.677																																						uc003jak.2																			2	Substitution - Missense(2)		lung(2)	skin(2)	2						c.(2758-2760)CAG>CGG		pleckstrin homology domain containing, family G							28.0	29.0	29.0					5																	171336		2202	4299	6501	SO:0001583	missense	153478				regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity	g.chr5:171336A>G	BC008352	CCDS34124.1	5p15.33	2013-01-11			ENSG00000153404	ENSG00000153404		"""Pleckstrin homology (PH) domain containing"""	29399	protein-coding gene	gene with protein product						11572484	Standard	NM_052909		Approved	KIAA1909	uc003jak.2	Q96PX9	OTTHUMG00000161570	ENST00000283426.6:c.2759A>G	5.37:g.171336A>G	ENSP00000283426:p.Gln920Arg						p.Q920R	NM_052909	NP_443141	Q96PX9	PKH4B_HUMAN	all cancers(22;0.0253)|Lung(60;0.113)	Kidney(1;0.119)	14	2809	+			920			DH.			Missense_Mutation	SNP	ENST00000283426.6	37	c.2759A>G	CCDS34124.1	.	.	.	.	.	.	.	.	.	.	A	14.69	2.611565	0.46631	.	.	ENSG00000153404	ENST00000283426	T	0.62232	0.04	2.92	2.92	0.33932	Dbl homology (DH) domain (5);	.	.	.	.	T	0.75087	0.3802	M	0.76328	2.33	0.36630	D	0.876219	D	0.89917	1.0	D	0.91635	0.999	T	0.78344	-0.2240	9	0.56958	D	0.05	.	8.9307	0.35668	1.0:0.0:0.0:0.0	.	920	Q96PX9	PKH4B_HUMAN	R	920	ENSP00000283426:Q920R	ENSP00000283426:Q920R	Q	+	2	0	PLEKHG4B	224336	1.000000	0.71417	0.883000	0.34634	0.932000	0.56968	7.583000	0.82559	0.949000	0.37715	0.260000	0.18958	CAG		PASS	0.677	PLEKHG4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365359.1	NM_052909		14	31	14	31	---	---	---	---
FASTKD3	79072	broad.mit.edu	37	5	7867395	7867395	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2766-01A-01D-1522-08	TCGA-66-2766-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	452b75d0-1818-46aa-8804-9cfc0bd66449	81a4d615-e95e-4c17-87f7-c06d8dd4975a	g.chr5:7867395C>T	ENST00000264669.5	-	2	938	c.802G>A	c.(802-804)Gaa>Aaa	p.E268K	FASTKD3_ENST00000513658.1_Intron|MTRR_ENST00000502509.1_Intron|MTRR_ENST00000264668.2_5'Flank|MTRR_ENST00000440940.2_5'Flank|MTRR_ENST00000341013.6_5'Flank	NM_024091.3	NP_076996.2	Q14CZ7	FAKD3_HUMAN	FAST kinase domains 3	268					cellular respiration (GO:0045333)	mitochondrion (GO:0005739)	poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)	p.E268K(1)		breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|liver(2)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						TCCACTTTTTCAGTACATGCC	0.353																																						uc003jeb.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|breast(1)|pancreas(1)	4						c.(802-804)GAA>AAA		FAST kinase domains 3							82.0	91.0	88.0					5																	7867395		2202	4300	6502	SO:0001583	missense	79072				apoptosis|cellular respiration	mitochondrion	ATP binding|protein kinase activity	g.chr5:7867395C>T	AK026927	CCDS3873.1	5p15.31	2008-02-05			ENSG00000124279	ENSG00000124279			28758	protein-coding gene	gene with protein product						12477932	Standard	NM_024091		Approved	MGC5297, FLJ23274	uc003jeb.3	Q14CZ7	OTTHUMG00000131029	ENST00000264669.5:c.802G>A	5.37:g.7867395C>T	ENSP00000264669:p.Glu268Lys					FASTKD3_uc011cmp.1_5'UTR|FASTKD3_uc003jec.2_Intron|MTRR_uc010itn.1_5'Flank|MTRR_uc003jee.3_5'Flank|MTRR_uc003jed.2_5'Flank|MTRR_uc003jef.3_5'Flank|MTRR_uc003jeg.3_5'Flank|MTRR_uc010ito.2_5'Flank	p.E268K	NM_024091	NP_076996	Q14CZ7	FAKD3_HUMAN			2	939	-			268					Q9BVD3	Missense_Mutation	SNP	ENST00000264669.5	37	c.802G>A	CCDS3873.1	.	.	.	.	.	.	.	.	.	.	C	12.90	2.077203	0.36662	.	.	ENSG00000124279	ENST00000264669	T	0.27402	1.67	4.85	3.96	0.45880	.	0.413896	0.27319	N	0.019915	T	0.26376	0.0644	M	0.63428	1.95	0.09310	N	1	B	0.31910	0.346	B	0.30943	0.122	T	0.18085	-1.0348	10	0.09084	T	0.74	-7.3992	10.3236	0.43780	0.0:0.7884:0.1363:0.0754	.	268	Q14CZ7	FAKD3_HUMAN	K	268	ENSP00000264669:E268K	ENSP00000264669:E268K	E	-	1	0	FASTKD3	7920395	0.030000	0.19436	0.046000	0.18839	0.764000	0.43329	1.963000	0.40452	1.212000	0.43366	0.650000	0.86243	GAA		PASS	0.353	FASTKD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253673.1	NM_024091		44	306	44	306	---	---	---	---
DNAJC21	134218	broad.mit.edu	37	5	34941281	34941281	+	Missense_Mutation	SNP	G	G	C			TCGA-66-2766-01A-01D-1522-08	TCGA-66-2766-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	452b75d0-1818-46aa-8804-9cfc0bd66449	81a4d615-e95e-4c17-87f7-c06d8dd4975a	g.chr5:34941281G>C	ENST00000342382.4	+	7	1203	c.976G>C	c.(976-978)Gaa>Caa	p.E326Q	DNAJC21_ENST00000303525.7_Missense_Mutation_p.E326Q|DNAJC21_ENST00000382021.2_Missense_Mutation_p.E326Q			Q5F1R6	DJC21_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 21	326	Glu-rich.				protein folding (GO:0006457)	ribosome (GO:0005840)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)	p.E326Q(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|skin(2)|upper_aerodigestive_tract(1)	21	all_lung(31;7.08e-05)		COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229)			GTTCAAGACAGAAAAGGCGTA	0.448																																						uc003jjc.2																			1	Substitution - Missense(1)		lung(1)	breast(1)|skin(1)	2						c.(976-978)GAA>CAA		DnaJ homology subfamily A member 5 isoform 2							62.0	63.0	63.0					5																	34941281		2203	4300	6503	SO:0001583	missense	134218				protein folding	ribosome	heat shock protein binding|nucleic acid binding|unfolded protein binding|zinc ion binding	g.chr5:34941281G>C		CCDS3907.2, CCDS34144.1	5p13-p12	2012-10-05			ENSG00000168724	ENSG00000168724		"""Heat shock proteins / DNAJ (HSP40)"""	27030	protein-coding gene	gene with protein product	"""JJJ1 DnaJ domain protein homolog (S. cerevisiae)"""					15067379	Standard	XM_005248250		Approved	GS3, DNAJA5, JJJ1	uc003jjc.3	Q5F1R6	OTTHUMG00000074103	ENST00000342382.4:c.976G>C	5.37:g.34941281G>C	ENSP00000343728:p.Glu326Gln					DNAJC21_uc003jjb.2_Missense_Mutation_p.E326Q|DNAJC21_uc010iuu.1_Missense_Mutation_p.E210Q	p.E326Q	NM_001012339	NP_001012339	Q5F1R6	DJC21_HUMAN	COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229)		7	1203	+	all_lung(31;7.08e-05)		326			Glu-rich.|C2H2-type 1.		Q3B7J9|Q6P086|Q6ZS43|Q86VC6	Missense_Mutation	SNP	ENST00000342382.4	37	c.976G>C	CCDS34144.1	.	.	.	.	.	.	.	.	.	.	G	32	5.179694	0.94846	.	.	ENSG00000168724	ENST00000342382;ENST00000382021;ENST00000303525	T;T;T	0.52526	0.66;0.73;0.69	5.76	5.76	0.90799	Zinc finger, C2H2-like (1);Zinc finger, double-stranded RNA binding (1);Zinc finger, U1-type (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.046813	0.85682	D	0.000000	T	0.61337	0.2339	L	0.52573	1.65	0.52501	D	0.999959	D;B;D	0.55800	0.973;0.205;0.967	P;B;P	0.57324	0.735;0.215;0.818	T	0.57300	-0.7835	10	0.48119	T	0.1	-32.2865	20.3431	0.98773	0.0:0.0:1.0:0.0	.	326;326;326	Q5F1R6-3;Q5F1R6;Q5F1R6-2	.;DJC21_HUMAN;.	Q	326	ENSP00000343728:E326Q;ENSP00000371451:E326Q;ENSP00000306289:E326Q	ENSP00000306289:E326Q	E	+	1	0	DNAJC21	34977038	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.378000	0.97191	2.880000	0.98712	0.650000	0.86243	GAA		PASS	0.448	DNAJC21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157337.1	NM_194283		69	131	69	131	---	---	---	---
MROH2B	133558	broad.mit.edu	37	5	41010115	41010115	+	Nonsense_Mutation	SNP	G	G	A			TCGA-66-2766-01A-01D-1522-08	TCGA-66-2766-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	452b75d0-1818-46aa-8804-9cfc0bd66449	81a4d615-e95e-4c17-87f7-c06d8dd4975a	g.chr5:41010115G>A	ENST00000399564.4	-	31	3652	c.3202C>T	c.(3202-3204)Cag>Tag	p.Q1068*	MROH2B_ENST00000506092.2_Nonsense_Mutation_p.Q623*	NM_173489.4	NP_775760.3	Q7Z745	MRO2B_HUMAN	maestro heat-like repeat family member 2B	1068								p.Q1068*(1)									AGAATGAACTGAAAACTTTCT	0.403																																						uc003jmj.3																			1	Substitution - Nonsense(1)		lung(1)	ovary(6)|central_nervous_system(2)	8						c.(3202-3204)CAG>TAG		HEAT repeat family member 7B2							131.0	119.0	123.0					5																	41010115		1879	4125	6004	SO:0001587	stop_gained	133558						binding	g.chr5:41010115G>A		CCDS47202.1	5p13.1	2012-12-19	2012-12-19	2012-12-19	ENSG00000171495	ENSG00000171495		"""maestro heat-like repeat containing"""	26857	protein-coding gene	gene with protein product			"""HEAT repeat family member 7B2"""	HEATR7B2		12477932	Standard	NM_173489		Approved	DKFZp781F0822, FLJ40243	uc003jmj.4	Q7Z745	OTTHUMG00000162151	ENST00000399564.4:c.3202C>T	5.37:g.41010115G>A	ENSP00000382476:p.Gln1068*					HEATR7B2_uc003jmi.3_Nonsense_Mutation_p.Q623*	p.Q1068*	NM_173489	NP_775760	Q7Z745	HTRB2_HUMAN			31	3692	-			1068					Q68DM1|Q7Z4U4|Q8N7X3	Nonsense_Mutation	SNP	ENST00000399564.4	37	c.3202C>T	CCDS47202.1	.	.	.	.	.	.	.	.	.	.	G	38	7.086744	0.98055	.	.	ENSG00000171495	ENST00000506092;ENST00000296803;ENST00000399564	.	.	.	6.0	5.06	0.68205	.	0.521665	0.18353	N	0.143811	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.11485	T	0.65	.	13.2237	0.59903	0.0:0.0:0.831:0.169	.	.	.	.	X	623;773;1068	.	ENSP00000296803:Q773X	Q	-	1	0	HEATR7B2	41045872	0.998000	0.40836	0.996000	0.52242	0.488000	0.33401	2.813000	0.48002	2.848000	0.98002	0.655000	0.94253	CAG		PASS	0.403	MROH2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367558.2	NM_173489		25	189	25	189	---	---	---	---
MROH2B	133558	broad.mit.edu	37	5	41061737	41061737	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2766-01A-01D-1522-08	TCGA-66-2766-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	452b75d0-1818-46aa-8804-9cfc0bd66449	81a4d615-e95e-4c17-87f7-c06d8dd4975a	g.chr5:41061737C>T	ENST00000399564.4	-	6	1000	c.550G>A	c.(550-552)Gac>Aac	p.D184N		NM_173489.4	NP_775760.3	Q7Z745	MRO2B_HUMAN	maestro heat-like repeat family member 2B	184								p.D184N(1)									AAGATCTTGTCAGACAGTCGG	0.488																																						uc003jmj.3																			1	Substitution - Missense(1)		lung(1)	ovary(6)|central_nervous_system(2)	8						c.(550-552)GAC>AAC		HEAT repeat family member 7B2							165.0	159.0	161.0					5																	41061737		1927	4123	6050	SO:0001583	missense	133558						binding	g.chr5:41061737C>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.550G>A	5.37:g.41061737C>T	ENSP00000382476:p.Asp184Asn						p.D184N	NM_173489	NP_775760	Q7Z745	HTRB2_HUMAN			6	1040	-			184					Q68DM1|Q7Z4U4|Q8N7X3	Missense_Mutation	SNP	ENST00000399564.4	37	c.550G>A	CCDS47202.1	.	.	.	.	.	.	.	.	.	.	C	27.1	4.801121	0.90538	.	.	ENSG00000171495	ENST00000399564	T	0.06068	3.35	5.81	5.81	0.92471	Armadillo-type fold (1);	0.000000	0.64402	D	0.000010	T	0.16981	0.0408	L	0.43152	1.355	0.38612	D	0.950936	D	0.89917	1.0	D	0.87578	0.998	T	0.08764	-1.0706	10	0.17832	T	0.49	.	15.5834	0.76462	0.0:1.0:0.0:0.0	.	184	Q7Z745	HTRB2_HUMAN	N	184	ENSP00000382476:D184N	ENSP00000382476:D184N	D	-	1	0	HEATR7B2	41097494	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.502000	0.53332	2.756000	0.94617	0.655000	0.94253	GAC		PASS	0.488	MROH2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367558.2	NM_173489		176	218	176	218	---	---	---	---
ADAMTS6	11174	broad.mit.edu	37	5	64468801	64468801	+	5'UTR	SNP	C	C	T			TCGA-66-2766-01A-01D-1522-08	TCGA-66-2766-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	452b75d0-1818-46aa-8804-9cfc0bd66449	81a4d615-e95e-4c17-87f7-c06d8dd4975a	g.chr5:64468801C>T	ENST00000314351.5	-	0	604							Q9UKP5	ATS6_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 6							proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.R153Q(1)|p.R982Q(1)		breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|pancreas(1)|prostate(1)|skin(3)	18		Lung NSC(167;2.44e-06)|Prostate(74;0.014)|Ovarian(174;0.0549)|Breast(144;0.111)|Colorectal(97;0.235)		Lung(70;0.00942)		CAGAACAATCCGATGCTTGAA	0.438																																						uc003jtp.2																			2	Substitution - Missense(2)		lung(2)		0						c.(2944-2946)CGG>CAG		ADAM metallopeptidase with thrombospondin type 1							162.0	143.0	150.0					5																	64468801		2203	4300	6503	SO:0001623	5_prime_UTR_variant	11174				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr5:64468801C>T	AF140674	CCDS3983.2	5q13	2008-07-18	2005-08-19		ENSG00000049192	ENSG00000049192		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	222	protein-coding gene	gene with protein product	"""a disintegrin and metalloproteinase with thrombospondin motifs 6"""	605008	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 6"""			10464288	Standard	NM_197941		Approved	ADAM-TS6	uc003jtp.3	Q9UKP5	OTTHUMG00000074079	ENST00000314351.5:c.-718G>A	5.37:g.64468801C>T						ADAMTS6_uc003jto.2_RNA|ADAMTS6_uc003jtq.2_RNA	p.R982Q	NM_197941	NP_922932	Q9UKP5	ATS6_HUMAN		Lung(70;0.00942)	23	3759	-		Lung NSC(167;2.44e-06)|Prostate(74;0.014)|Ovarian(174;0.0549)|Breast(144;0.111)|Colorectal(97;0.235)	982			TSP type-1 4.		Q59EX6|Q5IR87|Q5IR88|Q5IR89|Q68DL1	Missense_Mutation	SNP	ENST00000314351.5	37	c.2945G>A		.	.	.	.	.	.	.	.	.	.	C	36	5.614924	0.96649	.	.	ENSG00000049192	ENST00000381055	T	0.78126	-1.15	5.56	5.56	0.83823	.	0.000000	0.85682	D	0.000000	D	0.92453	0.7604	H	0.97415	4	0.80722	D	1	D	0.67145	0.996	D	0.65684	0.937	D	0.94708	0.7889	10	0.72032	D	0.01	.	19.5253	0.95203	0.0:1.0:0.0:0.0	.	982	Q9UKP5	ATS6_HUMAN	Q	982	ENSP00000370443:R982Q	ENSP00000370443:R982Q	R	-	2	0	ADAMTS6	64504557	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.487000	0.81328	2.605000	0.88082	0.650000	0.86243	CGG		PASS	0.438	ADAMTS6-006	KNOWN	basic	processed_transcript	protein_coding	OTTHUMT00000157334.2	NM_197941		95	44	95	44	---	---	---	---
BHMT	635	broad.mit.edu	37	5	78423587	78423587	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2766-01A-01D-1522-08	TCGA-66-2766-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	452b75d0-1818-46aa-8804-9cfc0bd66449	81a4d615-e95e-4c17-87f7-c06d8dd4975a	g.chr5:78423587C>T	ENST00000274353.5	+	7	925	c.818C>T	c.(817-819)cCc>cTc	p.P273L	BHMT_ENST00000524080.1_Missense_Mutation_p.P120L|DMGDH_ENST00000520388.1_Intron	NM_001713.2	NP_001704.2	Q93088	BHMT1_HUMAN	betaine--homocysteine S-methyltransferase	273	Hcy-binding. {ECO:0000255|PROSITE- ProRule:PRU00333}.				amino-acid betaine catabolic process (GO:0006579)|amino-acid betaine metabolic process (GO:0006577)|cellular nitrogen compound metabolic process (GO:0034641)|L-methionine salvage (GO:0071267)|protein methylation (GO:0006479)|regulation of homocysteine metabolic process (GO:0050666)|response to organonitrogen compound (GO:0010243)|small molecule metabolic process (GO:0044281)|sulfur amino acid metabolic process (GO:0000096)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|protein complex (GO:0043234)	betaine-homocysteine S-methyltransferase activity (GO:0047150)|S-adenosylmethionine-homocysteine S-methyltransferase activity (GO:0008898)|zinc ion binding (GO:0008270)	p.P273L(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)|skin(2)	29		all_lung(232;0.00051)|Lung NSC(167;0.00131)|Ovarian(174;0.0261)|Prostate(461;0.191)		OV - Ovarian serous cystadenocarcinoma(54;1.88e-45)|Epithelial(54;8.07e-41)|all cancers(79;3.51e-36)	L-Methionine(DB00134)	GGACTGGAACCCAGAGTTGCC	0.418																																						uc003kfu.3																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(817-819)CCC>CTC		betaine-homocysteine methyltransferase	L-Methionine(DB00134)						58.0	60.0	59.0					5																	78423587		2203	4300	6503	SO:0001583	missense	635				protein methylation|regulation of homocysteine metabolic process	cytoplasm	betaine-homocysteine S-methyltransferase activity|homocysteine S-methyltransferase activity|zinc ion binding	g.chr5:78423587C>T	BC012616	CCDS4046.1	5q14.1	2012-09-20	2010-04-28		ENSG00000145692	ENSG00000145692	2.1.1.5		1047	protein-coding gene	gene with protein product	"""betaine homocysteine methyltransferase"""	602888				8798461, 9281325	Standard	NM_001713		Approved	BHMT1	uc003kfu.4	Q93088	OTTHUMG00000108157	ENST00000274353.5:c.818C>T	5.37:g.78423587C>T	ENSP00000274353:p.Pro273Leu					BHMT_uc011cti.1_Missense_Mutation_p.P120L	p.P273L	NM_001713	NP_001704	Q93088	BHMT1_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;1.88e-45)|Epithelial(54;8.07e-41)|all cancers(79;3.51e-36)	7	923	+		all_lung(232;0.00051)|Lung NSC(167;0.00131)|Ovarian(174;0.0261)|Prostate(461;0.191)	273			Hcy-binding.		Q9UNI9	Missense_Mutation	SNP	ENST00000274353.5	37	c.818C>T	CCDS4046.1	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	C|C|C	22.8|22.8|22.8	4.342293|4.342293|4.342293	0.81911|0.81911|0.81911	.|.|.	.|.|.	ENSG00000145692|ENSG00000145692|ENSG00000145692	ENST00000436224|ENST00000274353;ENST00000524080|ENST00000436224	.|T;T|.	.|0.59364|.	.|0.27;0.27|.	5.14|5.14|5.14	5.14|5.14|5.14	0.70334|0.70334|0.70334	.|Homocysteine S-methyltransferase (4);|.	.|0.000000|0.000000	.|0.85682|0.85682	.|D|D	.|0.000000|0.000000	.|D|D	.|0.85881|0.85881	.|0.5800|0.5800	M|M|M	0.92555|0.92555|0.92555	3.32|3.32|3.32	0.80722|0.80722|0.80722	D|D|D	1|1|1	.|D;D|.	.|0.89917|.	.|1.0;1.0|.	.|D;D|.	.|0.91635|.	.|0.999;0.998|.	.|D|D	.|0.87855|0.87855	.|0.2660|0.2660	.|10|7	.|0.11794|0.46703	.|T|T	.|0.64|0.11	.|-14.684|-14.684	18.9602|18.9602|18.9602	0.92674|0.92674|0.92674	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.|.	.|120;273|.	.|E5RJH0;Q93088|.	.|.;BHMT1_HUMAN|.	.|L|S	-1|273;120|120	.|ENSP00000274353:P273L;ENSP00000428240:P120L|.	.|ENSP00000274353:P273L|ENSP00000405681:P120S	.|P|P	+|+|+	.|2|1	.|0|0	BHMT|BHMT|BHMT	78459343|78459343|78459343	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	1.000000|1.000000|1.000000	0.80357|0.80357|0.80357	0.582000|0.582000|0.582000	0.36321|0.36321|0.36321	5.899000|5.899000|5.899000	0.69846|0.69846|0.69846	2.547000|2.547000|2.547000	0.85894|0.85894|0.85894	0.650000|0.650000|0.650000	0.86243|0.86243|0.86243	.|CCC|CCA		PASS	0.418	BHMT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226961.1	NM_001713		50	14	50	14	---	---	---	---
RASGRF2	5924	broad.mit.edu	37	5	80381625	80381625	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2766-01A-01D-1522-08	TCGA-66-2766-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	452b75d0-1818-46aa-8804-9cfc0bd66449	81a4d615-e95e-4c17-87f7-c06d8dd4975a	g.chr5:80381625C>A	ENST00000265080.4	+	8	1233	c.1166C>A	c.(1165-1167)cCc>cAc	p.P389H	RASGRF2_ENST00000502677.1_3'UTR	NM_006909.2	NP_008840.1	O14827	RGRF2_HUMAN	Ras protein-specific guanine nucleotide-releasing factor 2	389	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				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.P389H(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)		ATCTAGATCCCCAGATATATC	0.498																																						uc003kha.1																			1	Substitution - Missense(1)		lung(1)	breast(5)|ovary(3)|large_intestine(2)|central_nervous_system(1)|skin(1)	12						c.(1165-1167)CCC>CAC		Ras protein-specific guanine							117.0	113.0	114.0					5																	80381625		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.chr5:80381625C>A	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.1166C>A	5.37:g.80381625C>A	ENSP00000265080:p.Pro389His					RASGRF2_uc011ctn.1_RNA|RASGRF2_uc003khb.1_Missense_Mutation_p.P217H	p.P389H	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)	8	1166	+		Lung NSC(167;0.00498)|all_lung(232;0.00531)|Ovarian(174;0.0357)	389			DH.		B9EG89|Q9UK56	Missense_Mutation	SNP	ENST00000265080.4	37	c.1166C>A	CCDS4052.1	.	.	.	.	.	.	.	.	.	.	C	28.6	4.936652	0.92458	.	.	ENSG00000113319	ENST00000265080	T	0.68765	-0.35	5.76	5.76	0.90799	Dbl homology (DH) domain (5);	0.091506	0.85682	D	0.000000	D	0.84853	0.5564	M	0.86097	2.795	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.995	D	0.85802	0.1374	10	0.72032	D	0.01	.	20.3431	0.98773	0.0:1.0:0.0:0.0	.	389;389	D6RAS9;O14827	.;RGRF2_HUMAN	H	389	ENSP00000265080:P389H	ENSP00000265080:P389H	P	+	2	0	RASGRF2	80417381	1.000000	0.71417	1.000000	0.80357	0.934000	0.57294	7.776000	0.85560	2.880000	0.98712	0.650000	0.86243	CCC		PASS	0.498	RASGRF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239215.2	NM_006909		74	34	74	34	---	---	---	---
DMXL1	1657	broad.mit.edu	37	5	118485540	118485540	+	Silent	SNP	C	C	A			TCGA-66-2766-01A-01D-1522-08	TCGA-66-2766-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	452b75d0-1818-46aa-8804-9cfc0bd66449	81a4d615-e95e-4c17-87f7-c06d8dd4975a	g.chr5:118485540C>A	ENST00000311085.8	+	18	4098	c.4018C>A	c.(4018-4020)Cgg>Agg	p.R1340R	DMXL1_ENST00000539542.1_Silent_p.R1340R	NM_005509.4	NP_005500.4	Q9Y485	DMXL1_HUMAN	Dmx-like 1	1340								p.R1340R(1)		breast(3)|central_nervous_system(1)|endometrium(14)|kidney(4)|large_intestine(20)|liver(6)|lung(28)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)	86		all_cancers(142;0.0314)|all_epithelial(76;0.00559)|Prostate(80;0.11)|Breast(839;0.231)		OV - Ovarian serous cystadenocarcinoma(64;0.000563)|Epithelial(69;0.00179)|all cancers(49;0.0243)		TGGTAAAGTTCGGAGAGCCAA	0.473																																						uc003ksd.2																			1	Substitution - coding silent(1)		lung(1)	ovary(2)	2						c.(4018-4020)CGG>AGG		Dmx-like 1							83.0	81.0	81.0					5																	118485540		2202	4300	6502	SO:0001819	synonymous_variant	1657							g.chr5:118485540C>A	AJ005821	CCDS4125.1, CCDS75289.1	5q22	2013-01-10			ENSG00000172869	ENSG00000172869		"""WD repeat domain containing"""	2937	protein-coding gene	gene with protein product		605671				10708522	Standard	NM_005509		Approved		uc003ksd.2	Q9Y485	OTTHUMG00000128898	ENST00000311085.8:c.4018C>A	5.37:g.118485540C>A						DMXL1_uc010jcl.1_Silent_p.R1340R	p.R1340R	NM_005509	NP_005500	Q9Y485	DMXL1_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;0.000563)|Epithelial(69;0.00179)|all cancers(49;0.0243)	18	4199	+		all_cancers(142;0.0314)|all_epithelial(76;0.00559)|Prostate(80;0.11)|Breast(839;0.231)	1340						Silent	SNP	ENST00000311085.8	37	c.4018C>A	CCDS4125.1																																																																																				PASS	0.473	DMXL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250862.1	NM_005509		4	116	4	116	---	---	---	---
ZNF608	57507	broad.mit.edu	37	5	123983395	123983395	+	Silent	SNP	G	G	A			TCGA-66-2766-01A-01D-1522-08	TCGA-66-2766-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	452b75d0-1818-46aa-8804-9cfc0bd66449	81a4d615-e95e-4c17-87f7-c06d8dd4975a	g.chr5:123983395G>A	ENST00000306315.5	-	4	3117	c.2682C>T	c.(2680-2682)ccC>ccT	p.P894P	ZNF608_ENST00000504926.1_Silent_p.P467P	NM_020747.2	NP_065798.2	Q9ULD9	ZN608_HUMAN	zinc finger protein 608	894							metal ion binding (GO:0046872)	p.P894P(1)		breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(12)|ovary(3)|skin(6)|urinary_tract(1)	46		all_cancers(142;0.186)|Prostate(80;0.081)	KIRC - Kidney renal clear cell carcinoma(527;0.159)|Kidney(363;0.221)	OV - Ovarian serous cystadenocarcinoma(64;0.00126)|Epithelial(69;0.00238)|all cancers(49;0.00783)		TGGAAGGGCTGGGAGCGTTGT	0.567																																						uc003ktq.1																			1	Substitution - coding silent(1)		lung(1)	skin(3)|ovary(2)|lung(1)	6						c.(2680-2682)CCC>CCT		zinc finger protein 608							64.0	59.0	61.0					5																	123983395		2203	4300	6503	SO:0001819	synonymous_variant	57507					intracellular	zinc ion binding	g.chr5:123983395G>A	AB033107	CCDS34219.1	5q23.2	2008-05-02			ENSG00000168916	ENSG00000168916		"""Zinc fingers, C2H2-type"""	29238	protein-coding gene	gene with protein product						10574462, 10508479	Standard	NM_020747		Approved	KIAA1281, DKFZp434M098, NY-REN-36	uc003ktq.1	Q9ULD9	OTTHUMG00000162999	ENST00000306315.5:c.2682C>T	5.37:g.123983395G>A						ZNF608_uc003ktr.1_Intron|ZNF608_uc003kts.1_Silent_p.P894P|ZNF608_uc003ktt.1_Silent_p.P894P	p.P894P	NM_020747	NP_065798	Q9ULD9	ZN608_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.159)|Kidney(363;0.221)	OV - Ovarian serous cystadenocarcinoma(64;0.00126)|Epithelial(69;0.00238)|all cancers(49;0.00783)	4	2805	-		all_cancers(142;0.186)|Prostate(80;0.081)	894					A7E2W9|Q3SYM6|Q68D12|Q8IY05|Q9Y5A1	Silent	SNP	ENST00000306315.5	37	c.2682C>T	CCDS34219.1																																																																																				PASS	0.567	ZNF608-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371300.1	XM_114432		73	28	73	28	---	---	---	---
NRG2	9542	broad.mit.edu	37	5	139231387	139231387	+	Missense_Mutation	SNP	C	C	A	rs186915407	byFrequency	TCGA-66-2766-01A-01D-1522-08	TCGA-66-2766-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	452b75d0-1818-46aa-8804-9cfc0bd66449	81a4d615-e95e-4c17-87f7-c06d8dd4975a	g.chr5:139231387C>A	ENST00000361474.1	-	9	1798	c.1574G>T	c.(1573-1575)cGt>cTt	p.R525L	NRG2_ENST00000289422.7_Missense_Mutation_p.R533L|NRG2_ENST00000545385.1_Missense_Mutation_p.R527L|CTB-35F21.4_ENST00000504413.1_RNA|NRG2_ENST00000358522.3_Missense_Mutation_p.R527L|NRG2_ENST00000289409.4_Missense_Mutation_p.R519L|NRG2_ENST00000541337.1_Missense_Mutation_p.R459L|NRG2_ENST00000394770.1_3'UTR|NRG2_ENST00000340391.3_Missense_Mutation_p.R322L	NM_004883.2	NP_004874.1	O14511	NRG2_HUMAN	neuregulin 2	525					embryo development (GO:0009790)|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)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor binding (GO:0005102)	p.R525L(1)		breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(5)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)	25			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCTCTCAGAACGTTCCAGGCT	0.622																																						uc003lex.1																			1	Substitution - Missense(1)		lung(1)	pancreas(2)|breast(2)|ovary(1)|skin(1)	6						c.(1573-1575)CGT>CTT		neuregulin 2 isoform 1							56.0	62.0	60.0					5																	139231387		2203	4300	6503	SO:0001583	missense	9542				embryo development	extracellular region|integral to membrane|plasma membrane	growth factor activity	g.chr5:139231387C>A		CCDS4217.1, CCDS54910.1	5q23-q33	2013-01-11			ENSG00000158458	ENSG00000158458		"""Immunoglobulin superfamily / I-set domain containing"""	7998	protein-coding gene	gene with protein product	"""neural- and thymus-derived activator for ErbB kinases"", ""divergent of neuregulin-1"""	603818				9168114, 9168115	Standard	NM_004883		Approved	Don-1, NTAK, HRG2	uc003lev.2	O14511	OTTHUMG00000129241	ENST00000361474.1:c.1574G>T	5.37:g.139231387C>A	ENSP00000354910:p.Arg525Leu					NRG2_uc003lev.1_Missense_Mutation_p.R533L|NRG2_uc003lew.1_Missense_Mutation_p.R527L|NRG2_uc003ley.1_Missense_Mutation_p.R519L	p.R525L	NM_004883	NP_004874	O14511	NRG2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		9	1799	-			525			Cytoplasmic (Potential).			Missense_Mutation	SNP	ENST00000361474.1	37	c.1574G>T	CCDS4217.1	.	.	.	.	.	.	.	.	.	.	c	15.92	2.975684	0.53720	.	.	ENSG00000158458	ENST00000541337;ENST00000289422;ENST00000361474;ENST00000446269;ENST00000545385;ENST00000340391;ENST00000289409;ENST00000358522	T;T;T;T;T;T;T	0.50548	0.74;0.74;0.74;0.74;0.74;0.74;0.74	5.29	2.1	0.27182	Neuregulin 1-related, C-terminal (1);	0.384501	0.27563	N	0.018817	T	0.48732	0.1516	L	0.59436	1.845	0.80722	D	1	P;P;P;P	0.45126	0.754;0.793;0.754;0.851	B;P;B;B	0.48552	0.259;0.581;0.446;0.259	T	0.46176	-0.9210	10	0.52906	T	0.07	-15.3813	8.9275	0.35650	0.0:0.6943:0.0:0.3057	.	519;525;527;533	O14511-2;O14511;O14511-4;O14511-3	.;NRG2_HUMAN;.;.	L	459;533;525;533;527;322;519;527	ENSP00000444235:R459L;ENSP00000289422:R533L;ENSP00000354910:R525L;ENSP00000438753:R527L;ENSP00000342660:R322L;ENSP00000289409:R519L;ENSP00000351323:R527L	ENSP00000289409:R519L	R	-	2	0	NRG2	139211571	0.547000	0.26465	0.998000	0.56505	0.996000	0.88848	1.071000	0.30666	0.628000	0.30357	-0.127000	0.14921	CGT		PASS	0.622	NRG2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000251340.1	NM_013982		36	6	36	6	---	---	---	---
PCDHB5	26167	broad.mit.edu	37	5	140516585	140516585	+	Silent	SNP	G	G	A			TCGA-66-2766-01A-01D-1522-08	TCGA-66-2766-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	452b75d0-1818-46aa-8804-9cfc0bd66449	81a4d615-e95e-4c17-87f7-c06d8dd4975a	g.chr5:140516585G>A	ENST00000231134.5	+	1	1786	c.1569G>A	c.(1567-1569)ctG>ctA	p.L523L		NM_015669.2	NP_056484.1	Q9Y5E4	PCDB5_HUMAN	protocadherin beta 5	523	Cadherin 5. {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.L523L(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(12)|kidney(1)|large_intestine(18)|lung(25)|ovary(3)|prostate(6)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	81			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			ACGAGGCCCTGCAGGCGTTCG	0.692																																						uc003liq.2																			1	Substitution - coding silent(1)		lung(1)	skin(3)|ovary(2)	5						c.(1567-1569)CTG>CTA		protocadherin beta 5 precursor							56.0	60.0	59.0					5																	140516585		2203	4300	6503	SO:0001819	synonymous_variant	26167				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding|protein binding	g.chr5:140516585G>A	AF152498	CCDS4247.1	5q31	2010-01-26			ENSG00000113209	ENSG00000113209		"""Cadherins / Protocadherins : Clustered"""	8690	other	protocadherin		606331				10380929	Standard	NM_015669		Approved	DKFZp586B0217, PCDH-BETA5	uc003liq.3	Q9Y5E4	OTTHUMG00000129616	ENST00000231134.5:c.1569G>A	5.37:g.140516585G>A							p.L523L	NM_015669	NP_056484	Q9Y5E4	PCDB5_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	1786	+			523			Extracellular (Potential).|Cadherin 5.		Q549F4|Q9UFU9	Silent	SNP	ENST00000231134.5	37	c.1569G>A	CCDS4247.1																																																																																				PASS	0.692	PCDHB5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251811.1	NM_015669		52	20	52	20	---	---	---	---
PCDHB6	56130	broad.mit.edu	37	5	140530216	140530216	+	Missense_Mutation	SNP	T	T	A			TCGA-66-2766-01A-01D-1522-08	TCGA-66-2766-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	452b75d0-1818-46aa-8804-9cfc0bd66449	81a4d615-e95e-4c17-87f7-c06d8dd4975a	g.chr5:140530216T>A	ENST00000231136.1	+	1	378	c.378T>A	c.(376-378)aaT>aaA	p.N126K	PCDHB6_ENST00000543635.1_5'UTR	NM_018939.2	NP_061762.1	Q9Y5E3	PCDB6_HUMAN	protocadherin beta 6	126	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)	p.N126K(1)		cervix(1)|endometrium(14)|kidney(6)|large_intestine(16)|liver(1)|lung(33)|ovary(1)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	84			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GAGATATAAATGACCACGCCC	0.453																																						uc003lir.2																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(376-378)AAT>AAA		protocadherin beta 6 precursor							54.0	60.0	58.0					5																	140530216		2203	4300	6503	SO:0001583	missense	56130				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding	g.chr5:140530216T>A	AF152499	CCDS4248.1	5q31	2010-01-26			ENSG00000113211	ENSG00000113211		"""Cadherins / Protocadherins : Clustered"""	8691	other	protocadherin		606332				10380929	Standard	NM_018939		Approved	PCDH-BETA6	uc003lir.3	Q9Y5E3	OTTHUMG00000129623	ENST00000231136.1:c.378T>A	5.37:g.140530216T>A	ENSP00000231136:p.Asn126Lys					PCDHB6_uc011dah.1_5'UTR	p.N126K	NM_018939	NP_061762	Q9Y5E3	PCDB6_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	378	+			126			Extracellular (Potential).|Cadherin 1.		B2R8R9	Missense_Mutation	SNP	ENST00000231136.1	37	c.378T>A	CCDS4248.1	.	.	.	.	.	.	.	.	.	.	T	17.02	3.281261	0.59758	.	.	ENSG00000113211	ENST00000231136	T	0.70869	-0.52	4.85	2.46	0.29980	Cadherin (2);Cadherin conserved site (1);Cadherin-like (1);	.	.	.	.	D	0.89494	0.6731	H	0.99454	4.575	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.89525	0.3781	9	0.87932	D	0	.	8.9476	0.35769	0.0:0.2219:0.0:0.7781	.	126	Q9Y5E3	PCDB6_HUMAN	K	126	ENSP00000231136:N126K	ENSP00000231136:N126K	N	+	3	2	PCDHB6	140510400	0.981000	0.34729	1.000000	0.80357	0.981000	0.71138	0.131000	0.15870	0.806000	0.34183	0.459000	0.35465	AAT		PASS	0.453	PCDHB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251818.2	NM_018939		42	142	42	142	---	---	---	---
PCDHGA12	26025	broad.mit.edu	37	5	140811280	140811280	+	Missense_Mutation	SNP	A	A	T			TCGA-66-2766-01A-01D-1522-08	TCGA-66-2766-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	452b75d0-1818-46aa-8804-9cfc0bd66449	81a4d615-e95e-4c17-87f7-c06d8dd4975a	g.chr5:140811280A>T	ENST00000252085.3	+	1	1096	c.954A>T	c.(952-954)gaA>gaT	p.E318D	PCDHGB1_ENST00000523390.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGB6_ENST00000520790.1_Intron	NM_003735.2|NM_032094.1	NP_003726.1|NP_115265.1	O60330	PCDGC_HUMAN	protocadherin gamma subfamily A, 12	318	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.E318D(2)		breast(2)|cervix(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(23)|ovary(5)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	58			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACCAGATGGAAGTGCAAGCAA	0.488																																						uc003lkt.1																			2	Substitution - Missense(2)		lung(2)	ovary(2)|pancreas(1)|skin(1)	4						c.(952-954)GAA>GAT		protocadherin gamma subfamily A, 12 isoform 1							174.0	164.0	167.0					5																	140811280		2203	4300	6503	SO:0001583	missense	26025				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140811280A>T	AF152506	CCDS4260.1, CCDS75346.1	5q31	2010-01-26	2002-05-23		ENSG00000253159	ENSG00000253159		"""Cadherins / Protocadherins : Clustered"""	8699	other	protocadherin	"""fibroblast cadherin FIB3"""	603059	"""cadherin 21"""	CDH21		10380929	Standard	NM_003735		Approved	KIAA0588, FIB3, PCDH-GAMMA-A12		O60330	OTTHUMG00000129611	ENST00000252085.3:c.954A>T	5.37:g.140811280A>T	ENSP00000252085:p.Glu318Asp					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_uc003lkn.1_Intron|PCDHGA11_uc003lkp.1_Intron|PCDHGA11_uc003lkq.1_Intron|PCDHGA12_uc011dba.1_Missense_Mutation_p.E318D	p.E318D	NM_003735	NP_003726	O60330	PCDGC_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1123	+			318			Cadherin 3.|Extracellular (Potential).		O15100|Q6UW70|Q9Y5D7	Missense_Mutation	SNP	ENST00000252085.3	37	c.954A>T	CCDS4260.1	.	.	.	.	.	.	.	.	.	.	a	7.887	0.731424	0.15507	.	.	ENSG00000253159	ENST00000252085	T	0.01745	4.66	4.85	2.38	0.29361	Cadherin (5);Cadherin-like (1);	.	.	.	.	T	0.01421	0.0046	N	0.25957	0.775	0.20307	N	0.999914	B;B	0.16802	0.007;0.019	B;B	0.23150	0.026;0.044	T	0.50110	-0.8866	9	0.15066	T	0.55	.	3.9031	0.09171	0.6004:0.0:0.1611:0.2386	.	318;318	O60330-2;O60330	.;PCDGC_HUMAN	D	318	ENSP00000252085:E318D	ENSP00000252085:E318D	E	+	3	2	PCDHGA12	140791464	0.000000	0.05858	1.000000	0.80357	0.998000	0.95712	-1.444000	0.02403	0.325000	0.23359	0.533000	0.62120	GAA		PASS	0.488	PCDHGA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251806.2	NM_003735		150	46	150	46	---	---	---	---
GALNT10	55568	broad.mit.edu	37	5	153726779	153726779	+	Intron	SNP	G	G	A			TCGA-66-2766-01A-01D-1522-08	TCGA-66-2766-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	452b75d0-1818-46aa-8804-9cfc0bd66449	81a4d615-e95e-4c17-87f7-c06d8dd4975a	g.chr5:153726779G>A	ENST00000297107.6	+	4	705				MIR1294_ENST00000408503.1_RNA|RN7SL655P_ENST00000486087.2_RNA|GALNT10_ENST00000425427.2_Intron|SAP30L-AS1_ENST00000519727.1_RNA|GALNT10_ENST00000377661.2_Intron	NM_198321.3	NP_938080.1	Q86SR1	GLT10_HUMAN	polypeptide N-acetylgalactosaminyltransferase 10						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)			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(12)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	32	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)|all_hematologic(541;0.21)	Kidney(363;8.21e-05)|KIRC - Kidney renal clear cell carcinoma(527;0.000577)			aggactcagtgaggtgaaact	0.428																																						hsa-mir-1294|MI0006356																			0					0															60.0	53.0	55.0					5																	153726779		1568	3582	5150	SO:0001627	intron_variant	100302181							g.chr5:153726779G>A	AK023782	CCDS4325.1	5q34	2014-03-13	2014-03-13		ENSG00000164574	ENSG00000164574	2.4.1.41	"""Glycosyltransferase family 2 domain containing"""	19873	protein-coding gene	gene with protein product	"""polypeptide GalNAc transferase 10"""	608043	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 10 (GalNAc-T10)"""			12417297	Standard	NM_198321		Approved	GalNAc-T10	uc003lvh.3	Q86SR1	OTTHUMG00000130145	ENST00000297107.6:c.568+17481G>A	5.37:g.153726779G>A						GALNT10_uc003lvg.1_Intron|GALNT10_uc003lvh.2_Intron|GALNT10_uc010jic.2_Intron|GALNT10_uc010jid.2_Intron										+								B3KXC9|Q6IN56|Q86VP8|Q8IXJ2|Q8TEJ2|Q96IV2|Q9H8E1|Q9Y4M4	RNA	SNP	ENST00000297107.6	37	c.114G>A	CCDS4325.1																																																																																				PASS	0.428	GALNT10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252453.1	NM_198321		27	70	27	70	---	---	---	---
FARS2	10667	broad.mit.edu	37	6	5613522	5613522	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2766-01A-01D-1522-08	TCGA-66-2766-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	452b75d0-1818-46aa-8804-9cfc0bd66449	81a4d615-e95e-4c17-87f7-c06d8dd4975a	g.chr6:5613522G>T	ENST00000324331.6	+	6	1522	c.1186G>T	c.(1186-1188)Gtt>Ttt	p.V396F	FARS2_ENST00000274680.4_Missense_Mutation_p.V396F			O95363	SYFM_HUMAN	phenylalanyl-tRNA synthetase 2, mitochondrial	396	FDX-ACB. {ECO:0000255|PROSITE- ProRule:PRU00778}.				gene expression (GO:0010467)|phenylalanyl-tRNA aminoacylation (GO:0006432)|tRNA aminoacylation for protein translation (GO:0006418)|tRNA processing (GO:0008033)	mitochondrial matrix (GO:0005759)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|phenylalanine-tRNA ligase activity (GO:0004826)|tRNA binding (GO:0000049)	p.V396F(1)		endometrium(3)|kidney(1)|large_intestine(5)|lung(3)|prostate(1)|stomach(2)	15	Ovarian(93;0.11)	all_hematologic(90;0.0104)			L-Phenylalanine(DB00120)	GGTGGAAAAGGTTGATCTCAT	0.378																																						uc010jnv.1																			1	Substitution - Missense(1)		lung(1)		0						c.(1186-1188)GTT>TTT		phenylalanyl-tRNA synthetase 2 precursor	L-Phenylalanine(DB00120)						115.0	112.0	113.0					6																	5613522		2203	4300	6503	SO:0001583	missense	10667				phenylalanyl-tRNA aminoacylation|tRNA processing	mitochondrial matrix|soluble fraction	ATP binding|magnesium ion binding|phenylalanine-tRNA ligase activity|tRNA binding	g.chr6:5613522G>T	AF097441	CCDS4494.1	6p25.1	2011-07-01	2007-02-23	2004-12-03	ENSG00000145982	ENSG00000145982	6.1.1.20	"""Aminoacyl tRNA synthetases / Class II"""	21062	protein-coding gene	gene with protein product	"""phenylalanine tRNA ligase 2, mitochondrial"""	611592	"""phenylalanine-tRNA synthetase 1 (mitochondrial)"""	FARS1		10329163	Standard	NM_006567		Approved	dJ236A3.1	uc003mwr.2	O95363	OTTHUMG00000014178	ENST00000324331.6:c.1186G>T	6.37:g.5613522G>T	ENSP00000316335:p.Val396Phe					FARS2_uc003mwr.2_Missense_Mutation_p.V396F	p.V396F	NM_006567	NP_006558	O95363	SYFM_HUMAN			6	1522	+	Ovarian(93;0.11)	all_hematologic(90;0.0104)	396			FDX-ACB.		B2R664|Q53F66|Q5TCS3|Q6FG29|Q9NPY7|Q9P062	Missense_Mutation	SNP	ENST00000324331.6	37	c.1186G>T	CCDS4494.1	.	.	.	.	.	.	.	.	.	.	G	24.4	4.524379	0.85600	.	.	ENSG00000145982	ENST00000274680;ENST00000324331	T;T	0.80033	-1.33;-1.33	5.23	5.23	0.72850	Phenylalanyl-tRNA synthetase, beta subunit, ferrodoxin-fold anticodon-binding (5);	0.000000	0.64402	D	0.000002	D	0.90868	0.7131	M	0.90252	3.1	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.92323	0.5867	10	0.87932	D	0	-12.1498	18.1847	0.89789	0.0:0.0:1.0:0.0	.	396	O95363	SYFM_HUMAN	F	396	ENSP00000274680:V396F;ENSP00000316335:V396F	ENSP00000274680:V396F	V	+	1	0	FARS2	5558521	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.143000	0.77348	2.605000	0.88082	0.655000	0.94253	GTT		PASS	0.378	FARS2-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000467790.1	NM_006567		105	134	105	134	---	---	---	---
LY86	9450	broad.mit.edu	37	6	6654803	6654803	+	Silent	SNP	G	G	A			TCGA-66-2766-01A-01D-1522-08	TCGA-66-2766-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	452b75d0-1818-46aa-8804-9cfc0bd66449	81a4d615-e95e-4c17-87f7-c06d8dd4975a	g.chr6:6654803G>A	ENST00000379953.2	+	6	784	c.432G>A	c.(430-432)ctG>ctA	p.L144L	LY86_ENST00000230568.4_Silent_p.L144L			O95711	LY86_HUMAN	lymphocyte antigen 86	144					apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|humoral immune response (GO:0006959)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|positive regulation of lipopolysaccharide-mediated signaling pathway (GO:0031666)	extracellular region (GO:0005576)|plasma membrane (GO:0005886)		p.L144L(1)		large_intestine(2)|lung(6)	8	Ovarian(93;0.0377)					TGCTGGAACTGTACACTGAAA	0.478																																						uc003mwy.1																			1	Substitution - coding silent(1)		lung(1)		0						c.(430-432)CTG>CTA		MD-1, RP105-associated precursor							155.0	135.0	142.0					6																	6654803		2203	4300	6503	SO:0001819	synonymous_variant	9450				apoptosis|cell proliferation|humoral immune response|inflammatory response|innate immune response	extracellular space|plasma membrane		g.chr6:6654803G>A	AF057178	CCDS4498.1	6p24.3	2010-07-08			ENSG00000112799	ENSG00000112799			16837	protein-coding gene	gene with protein product		605241				9763566	Standard	NM_004271		Approved	MD-1, dJ80N2.1	uc003mwy.1	O95711	OTTHUMG00000014190	ENST00000379953.2:c.432G>A	6.37:g.6654803G>A						LY86_uc003mwz.1_RNA	p.L144L	NM_004271	NP_004262	O95711	LY86_HUMAN			5	466	+	Ovarian(93;0.0377)		144					Q9UQC4	Silent	SNP	ENST00000379953.2	37	c.432G>A	CCDS4498.1																																																																																				PASS	0.478	LY86-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039762.2			28	61	28	61	---	---	---	---
RREB1	6239	broad.mit.edu	37	6	7231394	7231394	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2766-01A-01D-1522-08	TCGA-66-2766-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	452b75d0-1818-46aa-8804-9cfc0bd66449	81a4d615-e95e-4c17-87f7-c06d8dd4975a	g.chr6:7231394C>T	ENST00000349384.6	+	10	3376	c.3062C>T	c.(3061-3063)tCa>tTa	p.S1021L	RREB1_ENST00000379933.3_Missense_Mutation_p.S1021L|RREB1_ENST00000334984.6_Missense_Mutation_p.S1021L|RREB1_ENST00000379938.2_Missense_Mutation_p.S1021L	NM_001003698.3	NP_001003698.1	Q92766	RREB1_HUMAN	ras responsive element binding protein 1	1021	Pro-rich.				multicellular organismal development (GO:0007275)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription, DNA-templated (GO:0045893)|Ras protein signal transduction (GO:0007265)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nuclear body (GO:0016604)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.S1021L(2)		breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(18)|ovary(5)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58	Ovarian(93;0.0398)	all_hematologic(90;0.0384)|Prostate(151;0.191)				ATCTACTCCTCAGCCCTGGTC	0.687																																						uc003mxc.2																			2	Substitution - Missense(2)		lung(2)	ovary(4)|large_intestine(2)|pancreas(2)|skin(2)|breast(1)	11						c.(3061-3063)TCA>TTA		ras responsive element binding protein 1 isoform							24.0	27.0	26.0					6																	7231394		2201	4288	6489	SO:0001583	missense	6239				multicellular organismal development|positive regulation of transcription, DNA-dependent|Ras protein signal transduction|transcription from RNA polymerase II promoter	cytoplasm|nuclear speck	DNA binding|zinc ion binding	g.chr6:7231394C>T	U26914	CCDS34335.1, CCDS34336.1, CCDS54963.1	6p25	2013-01-08			ENSG00000124782	ENSG00000124782		"""Zinc fingers, C2H2-type"""	10449	protein-coding gene	gene with protein product	"""hindsight homolog (drosophila)"""	602209				9367691, 18394891	Standard	NM_001003698		Approved	HNT	uc003mxb.3	Q92766	OTTHUMG00000014201	ENST00000349384.6:c.3062C>T	6.37:g.7231394C>T	ENSP00000305560:p.Ser1021Leu					RREB1_uc003mxb.2_Missense_Mutation_p.S1021L|RREB1_uc010jnx.2_Missense_Mutation_p.S1021L	p.S1021L	NM_001003698	NP_001003698	Q92766	RREB1_HUMAN			10	3452	+	Ovarian(93;0.0398)	all_hematologic(90;0.0384)|Prostate(151;0.191)	1021			Pro-rich.		A2RRF5|E2GM80|E2GM81|O75567|O75568|Q5VYB2|Q6BEP5|Q6BEP6|Q6BEP8|Q86SU2|Q9Y474	Missense_Mutation	SNP	ENST00000349384.6	37	c.3062C>T	CCDS34336.1	.	.	.	.	.	.	.	.	.	.	C	17.01	3.279978	0.59758	.	.	ENSG00000124782	ENST00000379933;ENST00000379938;ENST00000349384;ENST00000334984	T;T;T;T	0.10477	3.0;2.93;3.0;2.87	5.59	5.59	0.84812	.	0.240037	0.27782	N	0.017873	T	0.07773	0.0195	L	0.57536	1.79	0.28321	N	0.922211	P;P;B	0.41848	0.763;0.682;0.041	B;B;B	0.39027	0.288;0.261;0.022	T	0.14337	-1.0476	10	0.33940	T	0.23	-12.8381	19.5964	0.95541	0.0:1.0:0.0:0.0	.	1021;1021;1021	Q92766-3;Q92766;Q92766-2	.;RREB1_HUMAN;.	L	1021	ENSP00000369265:S1021L;ENSP00000369270:S1021L;ENSP00000305560:S1021L;ENSP00000335574:S1021L	ENSP00000335574:S1021L	S	+	2	0	RREB1	7176393	0.998000	0.40836	0.147000	0.22382	0.932000	0.56968	5.370000	0.66144	2.627000	0.88993	0.655000	0.94253	TCA		PASS	0.687	RREB1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000352985.1			23	60	23	60	---	---	---	---
CDKAL1	54901	broad.mit.edu	37	6	20548873	20548873	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2766-01A-01D-1522-08	TCGA-66-2766-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	452b75d0-1818-46aa-8804-9cfc0bd66449	81a4d615-e95e-4c17-87f7-c06d8dd4975a	g.chr6:20548873C>T	ENST00000378610.1	+	2	233	c.223C>T	c.(223-225)Cat>Tat	p.H75Y	CDKAL1_ENST00000378624.4_Intron|CDKAL1_ENST00000274695.4_Missense_Mutation_p.H75Y			Q5VV42	CDKAL_HUMAN	CDK5 regulatory subunit associated protein 1-like 1	75	MTTase N-terminal. {ECO:0000255|PROSITE- ProRule:PRU00780}.				maintenance of translational fidelity (GO:1990145)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|rough endoplasmic reticulum (GO:0005791)	4 iron, 4 sulfur cluster binding (GO:0051539)|metal ion binding (GO:0046872)|N6-threonylcarbomyladenosine methylthiotransferase activity (GO:0035598)	p.H75Y(1)		breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(14)|ovary(2)|stomach(1)	29	all_epithelial(95;0.0708)|Breast(50;0.131)|Ovarian(93;0.227)		OV - Ovarian serous cystadenocarcinoma(7;0.0241)|all cancers(50;0.123)|Epithelial(50;0.248)			GGGTTGTTCTCATAATAATTC	0.294																																						uc003ndc.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(223-225)CAT>TAT		CDK5 regulatory subunit associated protein							79.0	84.0	82.0					6																	20548873		2203	4300	6503	SO:0001583	missense	54901				RNA modification	integral to membrane	4 iron, 4 sulfur cluster binding|metal ion binding|transferase activity	g.chr6:20548873C>T	AK000349	CCDS4546.1	6p22.2	2008-02-05			ENSG00000145996	ENSG00000145996			21050	protein-coding gene	gene with protein product		611259					Standard	NM_017774		Approved	FLJ20342	uc003ndd.2	Q5VV42	OTTHUMG00000014340	ENST00000378610.1:c.223C>T	6.37:g.20548873C>T	ENSP00000367873:p.His75Tyr					CDKAL1_uc003ndd.1_Missense_Mutation_p.H75Y|CDKAL1_uc003nde.1_Intron|CDKAL1_uc010jpo.1_Missense_Mutation_p.H75Y|CDKAL1_uc003ndb.1_Missense_Mutation_p.H75Y	p.H75Y	NM_017774	NP_060244	Q5VV42	CDKAL_HUMAN	OV - Ovarian serous cystadenocarcinoma(7;0.0241)|all cancers(50;0.123)|Epithelial(50;0.248)		4	397	+	all_epithelial(95;0.0708)|Breast(50;0.131)|Ovarian(93;0.227)		75			MTTase N-terminal.		A8K6S0|Q6P385|Q6ZR27|Q9NXB3	Missense_Mutation	SNP	ENST00000378610.1	37	c.223C>T	CCDS4546.1	.	.	.	.	.	.	.	.	.	.	C	26.3	4.725753	0.89298	.	.	ENSG00000145996	ENST00000274695;ENST00000378610	T;T	0.44881	0.91;0.91	5.81	5.81	0.92471	Methylthiotransferase, N-terminal (2);	0.000000	0.85682	D	0.000000	T	0.67154	0.2863	M	0.87180	2.865	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	T	0.70425	-0.4875	10	0.59425	D	0.04	.	20.0833	0.97789	0.0:1.0:0.0:0.0	.	75;75	Q5VV42;Q5VV42-3	CDKAL_HUMAN;.	Y	75	ENSP00000274695:H75Y;ENSP00000367873:H75Y	ENSP00000274695:H75Y	H	+	1	0	CDKAL1	20656852	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.198000	0.77823	2.756000	0.94617	0.655000	0.94253	CAT		PASS	0.294	CDKAL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039986.1	NM_017774		37	159	37	159	---	---	---	---
CDKAL1	54901	broad.mit.edu	37	6	20758859	20758859	+	Missense_Mutation	SNP	G	G	A			TCGA-66-2766-01A-01D-1522-08	TCGA-66-2766-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	452b75d0-1818-46aa-8804-9cfc0bd66449	81a4d615-e95e-4c17-87f7-c06d8dd4975a	g.chr6:20758859G>A	ENST00000378610.1	+	5	512	c.502G>A	c.(502-504)Gag>Aag	p.E168K	RP3-348I23.2_ENST00000421167.1_RNA|CDKAL1_ENST00000378624.4_Missense_Mutation_p.E98K|CDKAL1_ENST00000274695.4_Missense_Mutation_p.E168K			Q5VV42	CDKAL_HUMAN	CDK5 regulatory subunit associated protein 1-like 1	168	MTTase N-terminal. {ECO:0000255|PROSITE- ProRule:PRU00780}.				maintenance of translational fidelity (GO:1990145)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|rough endoplasmic reticulum (GO:0005791)	4 iron, 4 sulfur cluster binding (GO:0051539)|metal ion binding (GO:0046872)|N6-threonylcarbomyladenosine methylthiotransferase activity (GO:0035598)	p.E168K(1)		breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(14)|ovary(2)|stomach(1)	29	all_epithelial(95;0.0708)|Breast(50;0.131)|Ovarian(93;0.227)		OV - Ovarian serous cystadenocarcinoma(7;0.0241)|all cancers(50;0.123)|Epithelial(50;0.248)			AGAAGTTGTGGAGGAGACAAT	0.343																																						uc003ndc.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(502-504)GAG>AAG		CDK5 regulatory subunit associated protein							128.0	132.0	131.0					6																	20758859		2203	4300	6503	SO:0001583	missense	54901				RNA modification	integral to membrane	4 iron, 4 sulfur cluster binding|metal ion binding|transferase activity	g.chr6:20758859G>A	AK000349	CCDS4546.1	6p22.2	2008-02-05			ENSG00000145996	ENSG00000145996			21050	protein-coding gene	gene with protein product		611259					Standard	NM_017774		Approved	FLJ20342	uc003ndd.2	Q5VV42	OTTHUMG00000014340	ENST00000378610.1:c.502G>A	6.37:g.20758859G>A	ENSP00000367873:p.Glu168Lys					CDKAL1_uc003ndd.1_Missense_Mutation_p.E168K|CDKAL1_uc003nde.1_Missense_Mutation_p.E98K	p.E168K	NM_017774	NP_060244	Q5VV42	CDKAL_HUMAN	OV - Ovarian serous cystadenocarcinoma(7;0.0241)|all cancers(50;0.123)|Epithelial(50;0.248)		7	676	+	all_epithelial(95;0.0708)|Breast(50;0.131)|Ovarian(93;0.227)		168			MTTase N-terminal.		A8K6S0|Q6P385|Q6ZR27|Q9NXB3	Missense_Mutation	SNP	ENST00000378610.1	37	c.502G>A	CCDS4546.1	.	.	.	.	.	.	.	.	.	.	G	27.4	4.832521	0.91036	.	.	ENSG00000145996	ENST00000274695;ENST00000378624;ENST00000378610	T;T;T	0.48836	0.8;0.87;0.8	5.62	5.62	0.85841	Methylthiotransferase, N-terminal (1);	0.053500	0.64402	D	0.000001	T	0.61035	0.2315	M	0.79011	2.435	0.43977	D	0.996661	D;D	0.61697	0.99;0.975	D;P	0.66497	0.944;0.77	T	0.61637	-0.7022	10	0.45353	T	0.12	-24.1495	15.1474	0.72667	0.0:0.0:1.0:0.0	.	98;168	Q5VV42-2;Q5VV42	.;CDKAL_HUMAN	K	168;98;168	ENSP00000274695:E168K;ENSP00000367889:E98K;ENSP00000367873:E168K	ENSP00000274695:E168K	E	+	1	0	CDKAL1	20866838	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.325000	0.65869	2.650000	0.89964	0.591000	0.81541	GAG		PASS	0.343	CDKAL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039986.1	NM_017774		48	78	48	78	---	---	---	---
SLC17A4	10050	broad.mit.edu	37	6	25771236	25771236	+	Silent	SNP	C	C	A			TCGA-66-2766-01A-01D-1522-08	TCGA-66-2766-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	452b75d0-1818-46aa-8804-9cfc0bd66449	81a4d615-e95e-4c17-87f7-c06d8dd4975a	g.chr6:25771236C>A	ENST00000377905.4	+	6	821	c.702C>A	c.(700-702)atC>atA	p.I234I	SLC17A4_ENST00000439485.2_Intron|SLC17A4_ENST00000397076.2_Intron	NM_005495.2	NP_005486.1	Q9Y2C5	S17A4_HUMAN	solute carrier family 17, member 4	234					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.I234I(1)		breast(4)|endometrium(1)|kidney(4)|large_intestine(3)|lung(21)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						TCTTCTATATCTTTGGTGAGT	0.413																																						uc003nfe.2																			1	Substitution - coding silent(1)		lung(1)	skin(1)	1						c.(700-702)ATC>ATA		solute carrier family 17 (sodium phosphate),							247.0	233.0	238.0					6																	25771236		2203	4300	6503	SO:0001819	synonymous_variant	10050				phosphate metabolic process	integral to plasma membrane|membrane fraction	sodium:phosphate symporter activity	g.chr6:25771236C>A	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.702C>A	6.37:g.25771236C>A						SLC17A4_uc011djx.1_Intron|SLC17A4_uc003nff.1_Intron|SLC17A4_uc003nfg.2_Silent_p.I171I|SLC17A4_uc010jqa.2_5'Flank	p.I234I	NM_005495	NP_005486	Q9Y2C5	S17A4_HUMAN			6	821	+			234			Helical; (Potential).		B4DDV9|E7EPE8|E7EU17|Q32MB7|Q32MB8	Silent	SNP	ENST00000377905.4	37	c.702C>A	CCDS4564.1																																																																																				PASS	0.413	SLC17A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040068.1			132	206	132	206	---	---	---	---
HIST1H4E	8367	broad.mit.edu	37	6	26205150	26205150	+	Missense_Mutation	SNP	G	G	C			TCGA-66-2766-01A-01D-1522-08	TCGA-66-2766-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	452b75d0-1818-46aa-8804-9cfc0bd66449	81a4d615-e95e-4c17-87f7-c06d8dd4975a	g.chr6:26205150G>C	ENST00000360441.4	+	1	293	c.278G>C	c.(277-279)aGa>aCa	p.R93T		NM_003545.3	NP_003536.1	P62805	H4_HUMAN	histone cluster 1, H4e	93					CENP-A containing nucleosome assembly (GO:0034080)|chromatin organization (GO:0006325)|DNA replication-dependent nucleosome assembly (GO:0006335)|DNA replication-independent nucleosome assembly (GO:0006336)|histone H4-K20 demethylation (GO:0035574)|mitotic cell cycle (GO:0000278)|negative regulation of megakaryocyte differentiation (GO:0045653)|nucleosome assembly (GO:0006334)|telomere maintenance (GO:0000723)	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)|histone demethylase activity (H4-K20 specific) (GO:0035575)|poly(A) RNA binding (GO:0044822)	p.R93T(1)		breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(2)|upper_aerodigestive_tract(2)	18		all_hematologic(11;0.196)				GCGCTGAAGAGACAGGGACGC	0.537																																						uc003ngy.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(277-279)AGA>ACA		histone cluster 1, H4e							129.0	111.0	117.0					6																	26205150		2203	4300	6503	SO:0001583	missense	8367				CenH3-containing nucleosome assembly at centromere|negative regulation of megakaryocyte differentiation|phosphatidylinositol-mediated signaling|telomere maintenance	nucleoplasm|nucleosome	DNA binding|protein binding	g.chr6:26205150G>C	Z80787	CCDS4593.1	6p22.1	2011-01-27	2006-10-11	2003-02-14	ENSG00000198518	ENSG00000276966		"""Histones / Replication-dependent"""	4790	protein-coding gene	gene with protein product		602830	"""H4 histone family, member J"", ""histone 1, H4e"""	H4FJ		9119399, 12408966	Standard	NM_003545		Approved	H4/j	uc003ngy.3	P62805	OTTHUMG00000014441	ENST00000360441.4:c.278G>C	6.37:g.26205150G>C	ENSP00000353624:p.Arg93Thr						p.R93T	NM_003545	NP_003536	P62805	H4_HUMAN			1	278	+		all_hematologic(11;0.196)	93					A2VCL0|P02304|P02305|Q6DRA9|Q6FGB8|Q6NWP7	Missense_Mutation	SNP	ENST00000360441.4	37	c.278G>C	CCDS4593.1	.	.	.	.	.	.	.	.	.	.	.	15.29	2.790267	0.50102	.	.	ENSG00000198518	ENST00000360441	T	0.68624	-0.34	2.2	2.2	0.27929	.	0.000000	0.85682	U	0.000000	T	0.68016	0.2955	.	.	.	0.48632	D	0.999683	.	.	.	.	.	.	T	0.73783	-0.3874	7	0.72032	D	0.01	.	12.403	0.55424	0.0:0.0:1.0:0.0	.	.	.	.	T	93	ENSP00000353624:R93T	ENSP00000353624:R93T	R	+	2	0	HIST1H4E	26313129	1.000000	0.71417	0.692000	0.30179	0.004000	0.04260	9.201000	0.95017	1.521000	0.48983	0.655000	0.94253	AGA		PASS	0.537	HIST1H4E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040104.1	NM_003545		40	47	40	47	---	---	---	---
ZBED9	114821	broad.mit.edu	37	6	28543072	28543072	+	Silent	SNP	C	C	T			TCGA-66-2766-01A-01D-1522-08	TCGA-66-2766-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	452b75d0-1818-46aa-8804-9cfc0bd66449	81a4d615-e95e-4c17-87f7-c06d8dd4975a	g.chr6:28543072C>T	ENST00000452236.2	-	3	2027	c.1410G>A	c.(1408-1410)caG>caA	p.Q470Q	SCAND3_ENST00000530247.1_5'Flank	NM_052923.1	NP_443155.1												p.Q470Q(1)		NS(3)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(14)|liver(1)|lung(29)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)	71						CTGCAGAACTCTGGCTTTGGC	0.423																																						uc003nlo.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(1408-1410)CAG>CAA		SCAN domain containing 3							94.0	95.0	95.0					6																	28543072		2203	4300	6503	SO:0001819	synonymous_variant	114821				DNA integration|viral reproduction	nucleus	DNA binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity	g.chr6:28543072C>T																												ENST00000452236.2:c.1410G>A	6.37:g.28543072C>T							p.Q470Q	NM_052923	NP_443155	Q6R2W3	SCND3_HUMAN			3	2028	-			470			Integrase catalytic.			Silent	SNP	ENST00000452236.2	37	c.1410G>A	CCDS34355.1																																																																																				PASS	0.423	SCAND3-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000043551.3			105	128	105	128	---	---	---	---
CCHCR1	54535	broad.mit.edu	37	6	31112995	31112995	+	Silent	SNP	C	C	T			TCGA-66-2766-01A-01D-1522-08	TCGA-66-2766-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	452b75d0-1818-46aa-8804-9cfc0bd66449	81a4d615-e95e-4c17-87f7-c06d8dd4975a	g.chr6:31112995C>T	ENST00000376266.5	-	13	1679	c.1557G>A	c.(1555-1557)ctG>ctA	p.L519L	CCHCR1_ENST00000396263.2_Silent_p.L466L|CCHCR1_ENST00000396268.3_Silent_p.L608L|CCHCR1_ENST00000451521.2_Silent_p.L572L	NM_019052.3	NP_061925.2	Q8TD31	CCHCR_HUMAN	coiled-coil alpha-helical rod protein 1	519					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|protein export from nucleus (GO:0006611)	centriole (GO:0005814)|cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.L519L(1)|p.L608L(1)		breast(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(13)|skin(1)	23						CACTCAGCTGCAGTTCTGCAT	0.632																																						uc003nsr.3																			2	Substitution - coding silent(2)		lung(2)	skin(1)	1						c.(1555-1557)CTG>CTA		coiled-coil alpha-helical rod protein 1 isoform							41.0	35.0	37.0					6																	31112995		1510	2709	4219	SO:0001819	synonymous_variant	54535				cell differentiation|multicellular organismal development	cytoplasm|nucleus	protein binding	g.chr6:31112995C>T	AF216493	CCDS4695.1, CCDS43445.1, CCDS47397.1	6p21.3	2007-08-01	2005-02-15	2005-02-16	ENSG00000204536	ENSG00000204536			13930	protein-coding gene	gene with protein product		605310	"""chromosome 6 open reading frame 18"""	C6orf18		10888604, 10545595	Standard	NM_019052		Approved	HCR	uc003nsp.4	Q8TD31	OTTHUMG00000031112	ENST00000376266.5:c.1557G>A	6.37:g.31112995C>T						CCHCR1_uc011dne.1_Silent_p.L519L|CCHCR1_uc003nsq.3_Silent_p.L572L|CCHCR1_uc003nsp.3_Silent_p.L608L|CCHCR1_uc010jsk.1_Silent_p.L519L	p.L519L	NM_019052	NP_061925	Q8TD31	CCHCR_HUMAN			13	1680	-			519			Potential.		A2ABH6|E9PE84|Q2TB67|Q5SQ82|Q5STE9|Q9NRK8|Q9NWY9|Q9NXJ4|Q9NXK3|Q9Y6W1|Q9Y6W2	Silent	SNP	ENST00000376266.5	37	c.1557G>A	CCDS4695.1																																																																																				PASS	0.632	CCHCR1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000076190.5	NM_019052		50	49	50	49	---	---	---	---
MDGA1	266727	broad.mit.edu	37	6	37622620	37622620	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2766-01A-01D-1522-08	TCGA-66-2766-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	452b75d0-1818-46aa-8804-9cfc0bd66449	81a4d615-e95e-4c17-87f7-c06d8dd4975a	g.chr6:37622620C>T	ENST00000434837.3	-	5	1846	c.668G>A	c.(667-669)gGc>gAc	p.G223D	MDGA1_ENST00000505425.1_Missense_Mutation_p.G223D|MDGA1_ENST00000297153.7_Missense_Mutation_p.G223D	NM_153487.3	NP_705691.1	Q8NFP4	MDGA1_HUMAN	MAM domain containing glycosylphosphatidylinositol anchor 1	223	Ig-like 2.				brain development (GO:0007420)|cerebral cortex radially oriented cell migration (GO:0021799)|neuron migration (GO:0001764)|spinal cord association neuron differentiation (GO:0021527)	anchored component of plasma membrane (GO:0046658)|extracellular space (GO:0005615)		p.G223D(1)		central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(12)|lung(11)|prostate(1)|skin(2)|urinary_tract(1)	38						GTCTGGGATGCCGCACACGTT	0.597																																						uc003onu.1																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(2)	2						c.(667-669)GGC>GAC		MAM domain containing							188.0	200.0	196.0					6																	37622620		2180	4263	6443	SO:0001583	missense	266727				brain development|neuron migration|spinal cord association neuron differentiation	anchored to plasma membrane		g.chr6:37622620C>T	AF478693	CCDS47417.1	6p21	2013-01-29			ENSG00000112139	ENSG00000112139		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	19267	protein-coding gene	gene with protein product		609626				15922729, 15019943	Standard	NM_153487		Approved	GPIM, MAMDC3	uc003onu.1	Q8NFP4	OTTHUMG00000014626	ENST00000434837.3:c.668G>A	6.37:g.37622620C>T	ENSP00000402584:p.Gly223Asp					MDGA1_uc003onw.3_5'Flank	p.G223D	NM_153487	NP_705691	Q8NFP4	MDGA1_HUMAN			5	1847	-			223			Ig-like 2.		A6NHG0|Q8NBE3	Missense_Mutation	SNP	ENST00000434837.3	37	c.668G>A	CCDS47417.1	.	.	.	.	.	.	.	.	.	.	C	23.9	4.475827	0.84640	.	.	ENSG00000112139	ENST00000434837;ENST00000297153;ENST00000505425	T;T;T	0.53423	0.62;0.62;0.62	5.72	5.72	0.89469	Immunoglobulin subtype (1);Immunoglobulin-like (1);	0.121135	0.36815	N	0.002387	T	0.42517	0.1206	L	0.46157	1.445	0.40481	D	0.98044	P	0.41420	0.749	P	0.45377	0.478	T	0.44345	-0.9334	10	0.72032	D	0.01	.	18.8574	0.92259	0.0:1.0:0.0:0.0	.	223	Q8NFP4	MDGA1_HUMAN	D	223	ENSP00000402584:G223D;ENSP00000297153:G223D;ENSP00000422042:G223D	ENSP00000297153:G223D	G	-	2	0	MDGA1	37730598	1.000000	0.71417	0.999000	0.59377	0.995000	0.86356	2.402000	0.44521	2.705000	0.92388	0.655000	0.94253	GGC		PASS	0.597	MDGA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040419.3			5	322	5	322	---	---	---	---
ABCC10	89845	broad.mit.edu	37	6	43403605	43403605	+	Silent	SNP	C	C	G	rs148989774	byFrequency	TCGA-66-2766-01A-01D-1522-08	TCGA-66-2766-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	452b75d0-1818-46aa-8804-9cfc0bd66449	81a4d615-e95e-4c17-87f7-c06d8dd4975a	g.chr6:43403605C>G	ENST00000372530.4	+	5	1940	c.1725C>G	c.(1723-1725)ctC>ctG	p.L575L	ABCC10_ENST00000244533.3_Silent_p.L532L	NM_001198934.1	NP_001185863.1	Q5T3U5	MRP7_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 10	575					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)	p.L532L(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(8)|lung(21)|ovary(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	56	all_lung(25;0.00536)		Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0152)|OV - Ovarian serous cystadenocarcinoma(102;0.0804)		Cyclosporine(DB00091)|Cytarabine(DB00987)|Daunorubicin(DB00694)|Docetaxel(DB01248)|Doxorubicin(DB00997)|Estradiol(DB00783)|Etoposide(DB00773)|Gemcitabine(DB00441)|Methotrexate(DB00563)|Paclitaxel(DB01229)|Sildenafil(DB00203)|Tenofovir(DB00300)|Verapamil(DB00661)|Vincristine(DB00541)	AGCTTTTCCTCGACCTTCCAA	0.557																																						uc003ouy.1																			1	Substitution - coding silent(1)		lung(1)	ovary(6)|central_nervous_system(1)	7						c.(1723-1725)CTC>CTG		ATP-binding cassette, sub-family C, member 10							108.0	98.0	102.0					6																	43403605		2203	4300	6503	SO:0001819	synonymous_variant	89845					integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr6:43403605C>G	U66684	CCDS4896.1, CCDS56430.1	6p12.3	2012-03-14			ENSG00000124574	ENSG00000124574		"""ATP binding cassette transporters / subfamily C"""	52	protein-coding gene	gene with protein product		612509				8894702	Standard	NM_033450		Approved	EST182763, MRP7, SIMRP7	uc003ouy.1	Q5T3U5	OTTHUMG00000014733	ENST00000372530.4:c.1725C>G	6.37:g.43403605C>G						ABCC10_uc003ouz.1_Silent_p.L532L|ABCC10_uc010jyo.1_5'UTR	p.L575L	NM_033450	NP_258261	Q5T3U5	MRP7_HUMAN	Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0152)|OV - Ovarian serous cystadenocarcinoma(102;0.0804)		5	1940	+	all_lung(25;0.00536)		575					Q8NHX7|Q9H7N2|Q9NXY3|Q9UF48	Silent	SNP	ENST00000372530.4	37	c.1725C>G	CCDS56430.1																																																																																				PASS	0.557	ABCC10-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040603.2	NM_033450		58	132	58	132	---	---	---	---
ABCC10	89845	broad.mit.edu	37	6	43403612	43403612	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2766-01A-01D-1522-08	TCGA-66-2766-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	452b75d0-1818-46aa-8804-9cfc0bd66449	81a4d615-e95e-4c17-87f7-c06d8dd4975a	g.chr6:43403612C>T	ENST00000372530.4	+	5	1947	c.1732C>T	c.(1732-1734)Cca>Tca	p.P578S	ABCC10_ENST00000244533.3_Missense_Mutation_p.P535S	NM_001198934.1	NP_001185863.1	Q5T3U5	MRP7_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 10	578					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)	p.P535S(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(8)|lung(21)|ovary(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	56	all_lung(25;0.00536)		Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0152)|OV - Ovarian serous cystadenocarcinoma(102;0.0804)		Cyclosporine(DB00091)|Cytarabine(DB00987)|Daunorubicin(DB00694)|Docetaxel(DB01248)|Doxorubicin(DB00997)|Estradiol(DB00783)|Etoposide(DB00773)|Gemcitabine(DB00441)|Methotrexate(DB00563)|Paclitaxel(DB01229)|Sildenafil(DB00203)|Tenofovir(DB00300)|Verapamil(DB00661)|Vincristine(DB00541)	CCTCGACCTTCCAAACCACAA	0.562																																						uc003ouy.1																			1	Substitution - Missense(1)		lung(1)	ovary(6)|central_nervous_system(1)	7						c.(1732-1734)CCA>TCA		ATP-binding cassette, sub-family C, member 10							102.0	94.0	96.0					6																	43403612		2203	4300	6503	SO:0001583	missense	89845					integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr6:43403612C>T	U66684	CCDS4896.1, CCDS56430.1	6p12.3	2012-03-14			ENSG00000124574	ENSG00000124574		"""ATP binding cassette transporters / subfamily C"""	52	protein-coding gene	gene with protein product		612509				8894702	Standard	NM_033450		Approved	EST182763, MRP7, SIMRP7	uc003ouy.1	Q5T3U5	OTTHUMG00000014733	ENST00000372530.4:c.1732C>T	6.37:g.43403612C>T	ENSP00000361608:p.Pro578Ser					ABCC10_uc003ouz.1_Missense_Mutation_p.P535S|ABCC10_uc010jyo.1_5'UTR	p.P578S	NM_033450	NP_258261	Q5T3U5	MRP7_HUMAN	Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0152)|OV - Ovarian serous cystadenocarcinoma(102;0.0804)		5	1947	+	all_lung(25;0.00536)		578					Q8NHX7|Q9H7N2|Q9NXY3|Q9UF48	Missense_Mutation	SNP	ENST00000372530.4	37	c.1732C>T	CCDS56430.1	.	.	.	.	.	.	.	.	.	.	C	15.48	2.846878	0.51164	.	.	ENSG00000124574	ENST00000372515;ENST00000372530;ENST00000244533	D;D;D	0.98617	-4.87;-5.03;-5.03	5.36	4.5	0.54988	ABC transporter, transmembrane domain, type 1 (1);	0.446639	0.23941	N	0.043057	D	0.94483	0.8224	L	0.41906	1.305	0.35983	D	0.836149	P;P	0.38020	0.57;0.615	B;B	0.40134	0.295;0.32	D	0.93055	0.6469	10	0.41790	T	0.15	-44.7609	6.2442	0.20807	0.1282:0.6563:0.1395:0.0759	.	535;578	Q5T3U5-2;Q5T3U5	.;MRP7_HUMAN	S	134;578;535	ENSP00000361593:P134S;ENSP00000361608:P578S;ENSP00000244533:P535S	ENSP00000244533:P535S	P	+	1	0	ABCC10	43511590	0.994000	0.37717	1.000000	0.80357	0.986000	0.74619	0.940000	0.28992	1.264000	0.44198	0.462000	0.41574	CCA		PASS	0.562	ABCC10-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040603.2	NM_033450		59	140	59	140	---	---	---	---
XPO5	57510	broad.mit.edu	37	6	43538265	43538265	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2766-01A-01D-1522-08	TCGA-66-2766-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	452b75d0-1818-46aa-8804-9cfc0bd66449	81a4d615-e95e-4c17-87f7-c06d8dd4975a	g.chr6:43538265C>T	ENST00000265351.7	-	5	805	c.595G>A	c.(595-597)Gaa>Aaa	p.E199K		NM_020750.2	NP_065801.1	Q9HAV4	XPO5_HUMAN	exportin 5	199					gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|protein export from nucleus (GO:0006611)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|protein transporter activity (GO:0008565)|RNA binding (GO:0003723)|tRNA binding (GO:0000049)	p.E199K(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(8)|large_intestine(4)|lung(10)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	34	all_cancers(18;2.08e-05)|Lung NSC(15;0.000907)|all_lung(25;0.00243)		all cancers(41;0.000321)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|OV - Ovarian serous cystadenocarcinoma(102;0.0524)			TTTACATTTTCTTGAAGTGTG	0.373																																						uc003ovp.2																			1	Substitution - Missense(1)		lung(1)	skin(2)|breast(1)|kidney(1)	4						c.(595-597)GAA>AAA		exportin 5							225.0	221.0	222.0					6																	43538265		1867	4095	5962	SO:0001583	missense	57510				gene silencing by RNA	cytosol|nucleoplasm	protein binding|tRNA binding	g.chr6:43538265C>T	AB033117	CCDS47430.1	6p21.1	2011-04-13			ENSG00000124571	ENSG00000124571		"""Exportins"""	17675	protein-coding gene	gene with protein product		607845				11777942, 12426392	Standard	NM_020750		Approved	KIAA1291	uc003ovp.3	Q9HAV4	OTTHUMG00000014742	ENST00000265351.7:c.595G>A	6.37:g.43538265C>T	ENSP00000265351:p.Glu199Lys						p.E199K	NM_020750	NP_065801	Q9HAV4	XPO5_HUMAN	all cancers(41;0.000321)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|OV - Ovarian serous cystadenocarcinoma(102;0.0524)		5	806	-	all_cancers(18;2.08e-05)|Lung NSC(15;0.000907)|all_lung(25;0.00243)		199					Q5JTE6|Q96G48|Q96HN3|Q9BWM6|Q9BZV5|Q9H9M4|Q9NT89|Q9NW39|Q9ULC9	Missense_Mutation	SNP	ENST00000265351.7	37	c.595G>A	CCDS47430.1	.	.	.	.	.	.	.	.	.	.	C	8.712	0.912164	0.17907	.	.	ENSG00000124571	ENST00000265351	T	0.66815	-0.23	5.56	4.63	0.57726	Exportin-1/Importin-beta-like (1);Armadillo-like helical (1);Armadillo-type fold (1);	0.337248	0.32802	N	0.005634	T	0.28699	0.0711	N	0.14661	0.345	0.40382	D	0.979456	B	0.21821	0.061	B	0.22152	0.038	T	0.12372	-1.0550	10	0.07990	T	0.79	-12.1785	13.0978	0.59202	0.0:0.6253:0.3747:0.0	.	199	Q9HAV4	XPO5_HUMAN	K	199	ENSP00000265351:E199K	ENSP00000265351:E199K	E	-	1	0	XPO5	43646243	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.485000	0.45250	2.778000	0.95560	0.655000	0.94253	GAA		PASS	0.373	XPO5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040657.2	NM_020750		304	421	304	421	---	---	---	---
TDRD6	221400	broad.mit.edu	37	6	46657768	46657768	+	Missense_Mutation	SNP	G	G	C			TCGA-66-2766-01A-01D-1522-08	TCGA-66-2766-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	452b75d0-1818-46aa-8804-9cfc0bd66449	81a4d615-e95e-4c17-87f7-c06d8dd4975a	g.chr6:46657768G>C	ENST00000316081.6	+	1	1903	c.1903G>C	c.(1903-1905)Gat>Cat	p.D635H	TDRD6_ENST00000544460.1_Missense_Mutation_p.D635H|RP11-446F17.3_ENST00000422284.2_RNA|RP11-446F17.3_ENST00000571590.1_RNA|RP11-446F17.3_ENST00000434329.2_RNA	NM_001010870.2	NP_001010870.1	O60522	TDRD6_HUMAN	tudor domain containing 6	635					germ cell development (GO:0007281)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	chromatoid body (GO:0033391)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|P granule (GO:0043186)		p.D635H(1)		NS(1)|breast(9)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	80			Lung(136;0.192)			CCATATTCTTGATAAACAGGA	0.388																																						uc003oyj.2																			1	Substitution - Missense(1)		lung(1)	breast(3)|ovary(2)|skin(1)	6						c.(1903-1905)GAT>CAT		tudor domain containing 6							52.0	53.0	53.0					6																	46657768		2203	4300	6503	SO:0001583	missense	221400				cell differentiation|multicellular organismal development|spermatogenesis	chromatoid body	nucleic acid binding	g.chr6:46657768G>C	AF039442	CCDS34470.1, CCDS55017.1	6p12.3	2013-01-23			ENSG00000180113	ENSG00000180113		"""Tudor domain containing"""	21339	protein-coding gene	gene with protein product	"""cancer/testis antigen 41.2"", ""spermatogenesis associated 36"""	611200				9610721	Standard	NM_001010870		Approved	NY-CO-45, bA446F17.4, CT41.2, SPATA36	uc003oyj.3	O60522	OTTHUMG00000014788	ENST00000316081.6:c.1903G>C	6.37:g.46657768G>C	ENSP00000346065:p.Asp635His					TDRD6_uc010jze.2_Missense_Mutation_p.D629H	p.D635H	NM_001010870	NP_001010870	O60522	TDRD6_HUMAN	Lung(136;0.192)		1	1903	+			635					B3KWU2|F5H5M3|Q5HYB1|Q5VTS4|Q6ZMX5	Missense_Mutation	SNP	ENST00000316081.6	37	c.1903G>C	CCDS34470.1	.	.	.	.	.	.	.	.	.	.	G	14.91	2.675197	0.47781	.	.	ENSG00000180113	ENST00000544460;ENST00000316081	T;T	0.16897	2.31;2.32	5.85	5.85	0.93711	.	0.518773	0.21414	N	0.074940	T	0.26593	0.0650	M	0.66939	2.045	0.35008	D	0.756654	D;D	0.89917	1.0;1.0	D;D	0.74348	0.983;0.962	T	0.07009	-1.0795	10	0.51188	T	0.08	-20.8689	9.2556	0.37581	0.074:0.0:0.7795:0.1465	.	635;635	F5H5M3;O60522	.;TDRD6_HUMAN	H	635	ENSP00000443299:D635H;ENSP00000346065:D635H	ENSP00000346065:D635H	D	+	1	0	TDRD6	46765727	0.766000	0.28496	0.998000	0.56505	0.995000	0.86356	4.143000	0.58051	2.767000	0.95098	0.655000	0.94253	GAT		PASS	0.388	TDRD6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040800.1	XM_166443		30	134	30	134	---	---	---	---
PTCHD4	442213	broad.mit.edu	37	6	47847084	47847084	+	Missense_Mutation	SNP	G	G	A			TCGA-66-2766-01A-01D-1522-08	TCGA-66-2766-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	452b75d0-1818-46aa-8804-9cfc0bd66449	81a4d615-e95e-4c17-87f7-c06d8dd4975a	g.chr6:47847084G>A	ENST00000339488.4	-	3	1529	c.1496C>T	c.(1495-1497)tCg>tTg	p.S499L		NM_001013732.3	NP_001013754.3	Q6ZW05	PTHD4_HUMAN	patched domain containing 4	499						integral component of membrane (GO:0016021)	hedgehog receptor activity (GO:0008158)	p.S499L(2)									AACACTTGGCGAATCACTGGC	0.453																																						uc011dwm.1																			2	Substitution - Missense(2)		large_intestine(1)|lung(1)	central_nervous_system(1)	1						c.(1444-1446)TCG>TTG		hypothetical protein LOC442213							72.0	65.0	68.0					6																	47847084		2203	4300	6503	SO:0001583	missense	442213					integral to membrane	hedgehog receptor activity	g.chr6:47847084G>A		CCDS34473.2	6p12.3	2012-02-06	2012-02-06	2012-02-06	ENSG00000244694	ENSG00000244694			21345	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 138"""	C6orf138			Standard	NM_001013732		Approved	dJ402H5.2, FLJ41841	uc011dwm.2	Q6ZW05	OTTHUMG00000150404	ENST00000339488.4:c.1496C>T	6.37:g.47847084G>A	ENSP00000341914:p.Ser499Leu					C6orf138_uc011dwn.1_Missense_Mutation_p.S246L	p.S482L	NM_001013732	NP_001013754	Q6ZW05	CF138_HUMAN			3	1530	-			499					B0QZ29|B4DRK3|Q5T884	Missense_Mutation	SNP	ENST00000339488.4	37	c.1445C>T	CCDS34473.2	.	.	.	.	.	.	.	.	.	.	G	19.08	3.758298	0.69763	.	.	ENSG00000244694	ENST00000339488	D	0.87334	-2.24	5.48	5.48	0.80851	.	0.000000	0.85682	D	0.000000	D	0.92257	0.7544	M	0.66939	2.045	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.92647	0.6129	10	0.87932	D	0	.	19.3362	0.94320	0.0:0.0:1.0:0.0	.	499	Q6ZW05	CF138_HUMAN	L	499	ENSP00000341914:S499L	ENSP00000341914:S499L	S	-	2	0	C6orf138	47955043	1.000000	0.71417	0.911000	0.35937	0.771000	0.43674	9.476000	0.97823	2.592000	0.87571	0.650000	0.86243	TCG		PASS	0.453	PTCHD4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317987.2	NM_001013732		12	44	12	44	---	---	---	---
PKHD1	5314	broad.mit.edu	37	6	51890805	51890805	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2766-01A-01D-1522-08	TCGA-66-2766-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	452b75d0-1818-46aa-8804-9cfc0bd66449	81a4d615-e95e-4c17-87f7-c06d8dd4975a	g.chr6:51890805G>T	ENST00000371117.3	-	32	4078	c.3803C>A	c.(3802-3804)gCc>gAc	p.A1268D	PKHD1_ENST00000340994.4_Missense_Mutation_p.A1268D	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	1268	IPT/TIG 7.				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.A1268D(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)					GACCTCCACGGCAGCTGGAAC	0.597																																						uc003pah.1																			2	Substitution - Missense(2)		lung(2)	lung(15)|ovary(15)|large_intestine(5)|central_nervous_system(3)|skin(3)|breast(2)|upper_aerodigestive_tract(1)	44						c.(3802-3804)GCC>GAC		fibrocystin isoform 1							51.0	49.0	50.0					6																	51890805		2203	4300	6503	SO:0001583	missense	5314				cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity	g.chr6:51890805G>T	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.3803C>A	6.37:g.51890805G>T	ENSP00000360158:p.Ala1268Asp					PKHD1_uc003pai.2_Missense_Mutation_p.A1268D	p.A1268D	NM_138694	NP_619639	P08F94	PKHD1_HUMAN			32	4079	-	Lung NSC(77;0.0605)		1268			Extracellular (Potential).|IPT/TIG 7.		Q5VUA2|Q5VUA3|Q5VWV1|Q86Z26|Q8TCZ9	Missense_Mutation	SNP	ENST00000371117.3	37	c.3803C>A	CCDS4935.1	.	.	.	.	.	.	.	.	.	.	G	11.57	1.679308	0.29783	.	.	ENSG00000170927	ENST00000371117;ENST00000340994;ENST00000393616	D;D	0.87412	-2.04;-2.25	5.87	4.1	0.47936	Cell surface receptor IPT/TIG (1);Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.885610	0.09867	N	0.745422	T	0.60038	0.2238	N	0.14661	0.345	0.09310	N	1	B;B	0.30563	0.241;0.285	B;B	0.28011	0.051;0.085	T	0.52335	-0.8589	10	0.30078	T	0.28	.	9.1089	0.36714	0.0761:0.2965:0.6274:0.0	.	1268;1268	P08F94-2;P08F94	.;PKHD1_HUMAN	D	1268	ENSP00000360158:A1268D;ENSP00000341097:A1268D	ENSP00000341097:A1268D	A	-	2	0	PKHD1	51998764	0.000000	0.05858	0.001000	0.08648	0.001000	0.01503	0.280000	0.18790	0.835000	0.34877	-0.119000	0.15052	GCC		PASS	0.597	PKHD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040893.1	NM_138694		64	63	64	63	---	---	---	---
RIMS1	22999	broad.mit.edu	37	6	72960793	72960793	+	Nonsense_Mutation	SNP	G	G	T			TCGA-66-2766-01A-01D-1522-08	TCGA-66-2766-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	452b75d0-1818-46aa-8804-9cfc0bd66449	81a4d615-e95e-4c17-87f7-c06d8dd4975a	g.chr6:72960793G>T	ENST00000521978.1	+	14	2542	c.2542G>T	c.(2542-2544)Gag>Tag	p.E848*	RIMS1_ENST00000348717.5_Nonsense_Mutation_p.E848*|RIMS1_ENST00000264839.7_Nonsense_Mutation_p.E848*|RIMS1_ENST00000425662.2_Nonsense_Mutation_p.E241*|RIMS1_ENST00000520567.1_Nonsense_Mutation_p.E848*|RIMS1_ENST00000538414.1_5'Flank|RIMS1_ENST00000491071.2_Nonsense_Mutation_p.E848*|RIMS1_ENST00000517827.1_Nonsense_Mutation_p.E307*|RIMS1_ENST00000522291.1_Nonsense_Mutation_p.E848*|RIMS1_ENST00000517960.1_Nonsense_Mutation_p.E848*|RIMS1_ENST00000401910.3_Nonsense_Mutation_p.E322*|RIMS1_ENST00000523963.1_Nonsense_Mutation_p.E322*|RIMS1_ENST00000518273.1_Nonsense_Mutation_p.E848*	NM_014989.5	NP_055804.2	Q86UR5	RIMS1_HUMAN	regulating synaptic membrane exocytosis 1	848	C2 1. {ECO:0000255|PROSITE- ProRule:PRU00041}.				calcium ion-dependent exocytosis (GO:0017156)|calcium ion-dependent exocytosis of neurotransmitter (GO:0048791)|glutamate secretion (GO:0014047)|intracellular protein transport (GO:0006886)|membrane fusion (GO:0061025)|neurotransmitter secretion (GO:0007269)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of gene expression (GO:0010628)|positive regulation of inhibitory postsynaptic membrane potential (GO:0097151)|protein complex assembly (GO:0006461)|regulated secretory pathway (GO:0045055)|regulation of catalytic activity (GO:0050790)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of neurotransmitter secretion (GO:0046928)|response to stimulus (GO:0050896)|secretion (GO:0046903)|synaptic transmission (GO:0007268)|synaptic vesicle exocytosis (GO:0016079)|visual perception (GO:0007601)	cell junction (GO:0030054)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)|presynaptic membrane (GO:0042734)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|Rab GTPase binding (GO:0017137)|small GTPase regulator activity (GO:0005083)	p.E848*(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(25)|liver(4)|lung(35)|ovary(9)|pancreas(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	102		all_epithelial(107;0.179)|all_hematologic(105;0.212)				ATTTCTTGGAGAGGTGATGTA	0.294																																						uc003pga.2																			1	Substitution - Nonsense(1)		lung(1)	ovary(7)|pancreas(2)|breast(1)	10						c.(2542-2544)GAG>TAG		regulating synaptic membrane exocytosis 1							66.0	62.0	63.0					6																	72960793		1803	4065	5868	SO:0001587	stop_gained	22999				calcium ion-dependent exocytosis|cellular membrane fusion|glutamate secretion|intracellular protein transport|protein complex assembly|regulated secretory pathway|response to stimulus|synaptic vesicle exocytosis|visual perception	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding	g.chr6:72960793G>T	AB002338	CCDS47449.1, CCDS55029.1, CCDS55030.1, CCDS55031.1, CCDS55032.1, CCDS55033.1	6q12-q13	2008-10-16	2002-06-12	2002-06-14	ENSG00000079841	ENSG00000079841			17282	protein-coding gene	gene with protein product	"""Rab3-interacting molecule"""	606629	"""RAB3 interacting protein 2"""	RAB3IP2, CORD7		9205841, 11438518	Standard	NM_001168407		Approved	RIM, KIAA0340, RIM1	uc003pga.4	Q86UR5	OTTHUMG00000015009	ENST00000521978.1:c.2542G>T	6.37:g.72960793G>T	ENSP00000428417:p.Glu848*					RIMS1_uc011dyb.1_Nonsense_Mutation_p.E474*|RIMS1_uc003pgc.2_Nonsense_Mutation_p.E474*|RIMS1_uc010kaq.2_Nonsense_Mutation_p.E322*|RIMS1_uc011dyc.1_Nonsense_Mutation_p.E322*|RIMS1_uc010kar.2_Nonsense_Mutation_p.E241*|RIMS1_uc011dyd.1_Nonsense_Mutation_p.E307*|RIMS1_uc003pgf.2_Nonsense_Mutation_p.E65*|RIMS1_uc003pgg.2_Nonsense_Mutation_p.E65*|RIMS1_uc003pgi.2_Nonsense_Mutation_p.E65*|RIMS1_uc003pgh.2_Nonsense_Mutation_p.E65*|RIMS1_uc003pgd.2_Nonsense_Mutation_p.E65*|RIMS1_uc003pge.2_Nonsense_Mutation_p.E65*|RIMS1_uc011dye.1_5'Flank|RIMS1_uc003pgb.3_Nonsense_Mutation_p.E474*|RIMS1_uc010kas.1_Nonsense_Mutation_p.E307*	p.E848*	NM_014989	NP_055804	Q86UR5	RIMS1_HUMAN			14	2619	+		all_epithelial(107;0.179)|all_hematologic(105;0.212)	848			C2 1.		A7MBN6|B7Z2M0|B7Z2Q9|B7Z3S3|B7Z6S2|E7EX08|E9PCB7|E9PCZ1|E9PF48|E9PHF5|E9PHR1|O15048|Q5JY21|Q5JY25|Q5SZK1|Q8TDY9|Q8TDZ5|Q9HBA1|Q9HBA2|Q9HBA3|Q9HBA4|Q9HBA5|Q9HBA6	Nonsense_Mutation	SNP	ENST00000521978.1	37	c.2542G>T	CCDS47449.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	44|44	10.878610|10.878610	0.99482|0.99482	.|.	.|.	ENSG00000079841|ENSG00000079841	ENST00000491071;ENST00000350827;ENST00000352008;ENST00000348717;ENST00000349908;ENST00000346609;ENST00000264839;ENST00000517960;ENST00000518273;ENST00000520567;ENST00000522291;ENST00000521978;ENST00000401910;ENST00000523963;ENST00000425662;ENST00000453976;ENST00000517827;ENST00000370420|ENST00000517433	.|.	.|.	.|.	5.69|5.69	4.83|4.83	0.62350|0.62350	.|.	0.209202|.	0.35615|.	N|.	0.003094|.	.|T	.|0.61135	.|0.2323	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.62562	.|-0.6828	.|4	0.87932|.	D|.	0|.	-8.5491|-8.5491	14.6545|14.6545	0.68823|0.68823	0.0702:0.0:0.9298:0.0|0.0702:0.0:0.9298:0.0	.|.	.|.	.|.	.|.	X|I	848;848;848;848;848;848;848;848;848;848;848;848;322;322;241;241;307;73|421	.|.	ENSP00000264839:E848X|.	E|R	+|+	1|2	0|0	RIMS1|RIMS1	73017514|73017514	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.967000|0.967000	0.64934|0.64934	9.824000|9.824000	0.99380|0.99380	1.401000|1.401000	0.46761|0.46761	0.585000|0.585000	0.79938|0.79938	GAG|AGA		PASS	0.294	RIMS1-011	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374968.1			11	12	11	12	---	---	---	---
KCNQ5	56479	broad.mit.edu	37	6	73904271	73904271	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2766-01A-01D-1522-08	TCGA-66-2766-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	452b75d0-1818-46aa-8804-9cfc0bd66449	81a4d615-e95e-4c17-87f7-c06d8dd4975a	g.chr6:73904271C>A	ENST00000370398.1	+	14	2042	c.1933C>A	c.(1933-1935)Cag>Aag	p.Q645K	KCNQ5_ENST00000355635.3_Missense_Mutation_p.Q646K|KCNQ5_ENST00000355194.4_Missense_Mutation_p.Q645K|KCNQ5_ENST00000414165.2_Missense_Mutation_p.Q535K|KCNQ5_ENST00000402622.2_Missense_Mutation_p.Q655K|KCNQ5_ENST00000403813.2_Missense_Mutation_p.Q636K|KCNQ5_ENST00000342056.2_Missense_Mutation_p.Q664K	NM_019842.3	NP_062816.2	Q9NR82	KCNQ5_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 5	645					protein complex assembly (GO:0006461)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|inward rectifier potassium channel activity (GO:0005242)	p.Q645K(1)		breast(1)|cervix(1)|endometrium(6)|kidney(7)|large_intestine(13)|lung(15)|ovary(4)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	57		all_epithelial(107;0.116)|Lung NSC(302;0.219)		COAD - Colon adenocarcinoma(1;0.0107)|Colorectal(1;0.0583)	Ezogabine(DB04953)	GGCTTCATTCCAGATCCCACC	0.488																																					GBM(142;1375 1859 14391 23261 44706)	uc003pgk.2																			1	Substitution - Missense(1)		lung(1)	ovary(4)|large_intestine(2)|skin(1)	7						c.(1933-1935)CAG>AAG		potassium voltage-gated channel, KQT-like							92.0	87.0	89.0					6																	73904271		2203	4300	6503	SO:0001583	missense	56479				protein complex assembly|synaptic transmission	voltage-gated potassium channel complex	inward rectifier potassium channel activity	g.chr6:73904271C>A	AF202977	CCDS4976.1, CCDS55034.1	6q14	2012-07-05			ENSG00000185760	ENSG00000185760		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6299	protein-coding gene	gene with protein product		607357				10787416, 10816588, 16382104	Standard	NM_019842		Approved	Kv7.5	uc011dyh.2	Q9NR82	OTTHUMG00000015020	ENST00000370398.1:c.1933C>A	6.37:g.73904271C>A	ENSP00000359425:p.Gln645Lys					KCNQ5_uc011dyh.1_Missense_Mutation_p.Q664K|KCNQ5_uc011dyi.1_Missense_Mutation_p.Q655K|KCNQ5_uc010kat.2_Missense_Mutation_p.Q636K|KCNQ5_uc011dyj.1_Missense_Mutation_p.Q535K|KCNQ5_uc011dyk.1_Missense_Mutation_p.Q395K	p.Q645K	NM_019842	NP_062816	Q9NR82	KCNQ5_HUMAN		COAD - Colon adenocarcinoma(1;0.0107)|Colorectal(1;0.0583)	14	2280	+		all_epithelial(107;0.116)|Lung NSC(302;0.219)	645					A6NKT6|A6PVT6|A8MSQ5|B4DS33|B5MC83|B7ZL37|F5GZV0|Q17RE1|Q5VVP3|Q86W40|Q9NRN0|Q9NYA6	Missense_Mutation	SNP	ENST00000370398.1	37	c.1933C>A	CCDS4976.1	.	.	.	.	.	.	.	.	.	.	C	9.645	1.140141	0.21205	.	.	ENSG00000185760	ENST00000342056;ENST00000451840;ENST00000355194;ENST00000370398;ENST00000402622;ENST00000355635;ENST00000403813;ENST00000414165	D;D;D;D;D;D;D	0.99594	-6.25;-6.25;-6.25;-6.25;-6.25;-6.25;-6.25	5.47	5.47	0.80525	Potassium channel, voltage dependent, KCNQ, C-terminal (1);	0.165435	0.42294	D	0.000736	D	0.98289	0.9433	L	0.38175	1.15	0.29168	N	0.877343	P;B;B;B;B	0.47910	0.902;0.017;0.021;0.017;0.021	P;B;B;B;B	0.49665	0.618;0.028;0.07;0.028;0.07	D	0.96101	0.9069	10	0.12430	T	0.62	.	19.3268	0.94265	0.0:1.0:0.0:0.0	.	535;655;664;636;645	F5GZV0;Q9NR82-3;A6PVT6;Q9NR82-2;Q9NR82	.;.;.;.;KCNQ5_HUMAN	K	664;664;645;645;655;646;636;535	ENSP00000345055:Q664K;ENSP00000347326:Q645K;ENSP00000359425:Q645K;ENSP00000385501:Q655K;ENSP00000347853:Q646K;ENSP00000384453:Q636K;ENSP00000409861:Q535K	ENSP00000345055:Q664K	Q	+	1	0	KCNQ5	73960992	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.818000	0.86416	2.563000	0.86464	0.561000	0.74099	CAG		PASS	0.488	KCNQ5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000041198.3	NM_019842		54	111	54	111	---	---	---	---
COL12A1	1303	broad.mit.edu	37	6	75893640	75893640	+	Silent	SNP	G	G	A			TCGA-66-2766-01A-01D-1522-08	TCGA-66-2766-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	452b75d0-1818-46aa-8804-9cfc0bd66449	81a4d615-e95e-4c17-87f7-c06d8dd4975a	g.chr6:75893640G>A	ENST00000322507.8	-	9	1527	c.1218C>T	c.(1216-1218)gcC>gcT	p.A406A	COL12A1_ENST00000345356.6_Intron|COL12A1_ENST00000416123.2_Silent_p.A406A|COL12A1_ENST00000483888.2_Silent_p.A406A	NM_004370.5	NP_004361.3	Q99715	COCA1_HUMAN	collagen, type XII, alpha 1	406	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|skeletal system development (GO:0001501)	collagen type XII trimer (GO:0005595)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|vesicle (GO:0031982)	extracellular matrix structural constituent conferring tensile strength (GO:0030020)	p.A406A(1)		breast(7)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(44)|liver(1)|lung(77)|ovary(7)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	169						TTCCCTTCATGGCGGAAACAC	0.493																																						uc003phs.2																			1	Substitution - coding silent(1)		lung(1)	ovary(6)|large_intestine(1)|breast(1)|skin(1)	9						c.(1216-1218)GCC>GCT		collagen, type XII, alpha 1 long isoform							206.0	197.0	200.0					6																	75893640		2017	4179	6196	SO:0001819	synonymous_variant	1303				cell adhesion|collagen fibril organization|skeletal system development	collagen type XII|extracellular space	extracellular matrix structural constituent conferring tensile strength	g.chr6:75893640G>A	U73779	CCDS43481.1, CCDS43482.1	6q12-q13	2013-02-11	2003-07-24		ENSG00000111799	ENSG00000111799		"""Proteoglycans / Extracellular Matrix : Collagen proteoglycans"", ""Collagens"", ""Fibronectin type III domain containing"""	2188	protein-coding gene	gene with protein product	"""collagen type XII proteoglycan"""	120320	"""collagen, type XII, alpha 1-like"""	COL12A1L		9143499	Standard	XM_006715334		Approved		uc003phs.3	Q99715	OTTHUMG00000015051	ENST00000322507.8:c.1218C>T	6.37:g.75893640G>A						COL12A1_uc003pht.2_Intron|COL12A1_uc003phu.1_Silent_p.A64A	p.A406A	NM_004370	NP_004361	Q99715	COCA1_HUMAN			9	1384	-			406			Fibronectin type-III 2.		O43853|Q15955|Q5VYK1|Q5VYK2|Q71UR3|Q99716	Silent	SNP	ENST00000322507.8	37	c.1218C>T	CCDS43482.1																																																																																				PASS	0.493	COL12A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041249.3	NM_004370		105	309	105	309	---	---	---	---
MDN1	23195	broad.mit.edu	37	6	90442303	90442303	+	Missense_Mutation	SNP	G	G	C			TCGA-66-2766-01A-01D-1522-08	TCGA-66-2766-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	452b75d0-1818-46aa-8804-9cfc0bd66449	81a4d615-e95e-4c17-87f7-c06d8dd4975a	g.chr6:90442303G>C	ENST00000369393.3	-	34	5030	c.4915C>G	c.(4915-4917)Ctg>Gtg	p.L1639V	MDN1_ENST00000428876.1_Missense_Mutation_p.L1639V			Q9NU22	MDN1_HUMAN	MDN1, midasin homolog (yeast)	1639					ATP catabolic process (GO:0006200)|protein complex assembly (GO:0006461)	cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|unfolded protein binding (GO:0051082)	p.L1639V(1)		NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		ATGTACACCAGGCATGCAGCA	0.507																																						uc003pnn.1																			1	Substitution - Missense(1)		lung(1)	ovary(8)|skin(2)	10						c.(4915-4917)CTG>GTG		MDN1, midasin homolog							154.0	142.0	146.0					6																	90442303		2203	4300	6503	SO:0001583	missense	23195				protein complex assembly|regulation of protein complex assembly	nucleus	ATP binding|ATPase activity|unfolded protein binding	g.chr6:90442303G>C	AF503925	CCDS5024.1	6q15	2014-01-28			ENSG00000112159	ENSG00000112159			18302	protein-coding gene	gene with protein product						9205841, 12102729	Standard	XM_005248699		Approved	KIAA0301	uc003pnn.1	Q9NU22	OTTHUMG00000015213	ENST00000369393.3:c.4915C>G	6.37:g.90442303G>C	ENSP00000358400:p.Leu1639Val						p.L1639V	NM_014611	NP_055426	Q9NU22	MDN1_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0193)	34	5031	-		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)	1639					O15019|Q5T794	Missense_Mutation	SNP	ENST00000369393.3	37	c.4915C>G	CCDS5024.1	.	.	.	.	.	.	.	.	.	.	G	14.68	2.606800	0.46527	.	.	ENSG00000112159	ENST00000369393;ENST00000428876	T;T	0.05580	3.42;3.42	5.27	4.4	0.53042	.	0.000000	0.64402	D	0.000004	T	0.09423	0.0232	M	0.86651	2.83	0.43317	D	0.995338	P	0.42203	0.773	P	0.47827	0.558	T	0.00651	-1.1626	10	0.62326	D	0.03	.	8.5242	0.33296	0.2479:0.0:0.7521:0.0	.	1639	Q9NU22	MDN1_HUMAN	V	1639	ENSP00000358400:L1639V;ENSP00000413970:L1639V	ENSP00000358400:L1639V	L	-	1	2	MDN1	90499024	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	2.936000	0.48971	1.345000	0.45676	0.563000	0.77884	CTG		PASS	0.507	MDN1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041514.2			53	153	53	153	---	---	---	---
MCHR2	84539	broad.mit.edu	37	6	100390984	100390984	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2766-01A-01D-1522-08	TCGA-66-2766-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	452b75d0-1818-46aa-8804-9cfc0bd66449	81a4d615-e95e-4c17-87f7-c06d8dd4975a	g.chr6:100390984C>T	ENST00000281806.2	-	4	742	c.428G>A	c.(427-429)cGt>cAt	p.R143H	MCHR2_ENST00000369212.2_Missense_Mutation_p.R143H	NM_001040179.1	NP_001035269.1	Q969V1	MCHR2_HUMAN	melanin-concentrating hormone receptor 2	143						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.R143H(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(19)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	39		all_cancers(76;4.87e-05)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0309)|Colorectal(196;0.069)		BRCA - Breast invasive adenocarcinoma(108;0.0429)		TGTTCTCCAACGTGTCAGTCG	0.478																																						uc003pqh.1																			1	Substitution - Missense(1)		lung(1)	lung(3)|ovary(2)|breast(1)|central_nervous_system(1)|skin(1)	8						c.(427-429)CGT>CAT		melanin-concentrating hormone receptor 2							131.0	121.0	125.0					6																	100390984		2203	4300	6503	SO:0001583	missense	84539					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr6:100390984C>T	AF347063	CCDS5044.1	6q16	2012-08-08	2006-02-15	2006-02-15	ENSG00000152034	ENSG00000152034		"""GPCR / Class A : MCH receptors"""	20867	protein-coding gene	gene with protein product		606111	"""G protein-coupled receptor 145"""	GPR145		11355873, 11274220	Standard	NM_032503		Approved	SLT, MCH2, MCH2R	uc003pqi.1	Q969V1	OTTHUMG00000015270	ENST00000281806.2:c.428G>A	6.37:g.100390984C>T	ENSP00000281806:p.Arg143His					MCHR2_uc003pqi.1_Missense_Mutation_p.R143H	p.R143H	NM_001040179	NP_001035269	Q969V1	MCHR2_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0429)	4	743	-		all_cancers(76;4.87e-05)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0309)|Colorectal(196;0.069)	143			Cytoplasmic (Potential).		B3KVW4|E1P5D7|Q5VTV7|Q6Q377|Q9BXA8	Missense_Mutation	SNP	ENST00000281806.2	37	c.428G>A	CCDS5044.1	.	.	.	.	.	.	.	.	.	.	C	13.62	2.291573	0.40494	.	.	ENSG00000152034	ENST00000445970;ENST00000281806;ENST00000369212	T;T;T	0.39787	1.06;1.06;1.06	4.95	4.95	0.65309	GPCR, rhodopsin-like superfamily (1);	0.136394	0.45606	D	0.000348	T	0.14960	0.0361	L	0.28274	0.84	0.25021	N	0.991339	B	0.15141	0.012	B	0.10450	0.005	T	0.05354	-1.0890	10	0.42905	T	0.14	.	11.3489	0.49577	0.0:0.9106:0.0:0.0894	.	143	Q969V1	MCHR2_HUMAN	H	143	ENSP00000403490:R143H;ENSP00000281806:R143H;ENSP00000358214:R143H	ENSP00000281806:R143H	R	-	2	0	MCHR2	100497705	0.908000	0.30866	0.889000	0.34880	0.904000	0.53231	1.816000	0.38992	2.301000	0.77427	0.655000	0.94253	CGT		PASS	0.478	MCHR2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041620.2	NM_032503		101	115	101	115	---	---	---	---
SIM1	6492	broad.mit.edu	37	6	100838429	100838429	+	Silent	SNP	C	C	T			TCGA-66-2766-01A-01D-1522-08	TCGA-66-2766-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	452b75d0-1818-46aa-8804-9cfc0bd66449	81a4d615-e95e-4c17-87f7-c06d8dd4975a	g.chr6:100838429C>T	ENST00000369208.3	-	12	2891	c.2109G>A	c.(2107-2109)cgG>cgA	p.R703R	SIM1_ENST00000262901.4_Silent_p.R703R			P81133	SIM1_HUMAN	single-minded family bHLH transcription factor 1	703	Single-minded C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00632}.				cell differentiation (GO:0030154)|nervous system development (GO:0007399)|transcription, DNA-templated (GO:0006351)|ureteric bud development (GO:0001657)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)	p.R703R(1)		breast(1)|central_nervous_system(4)|endometrium(5)|kidney(1)|large_intestine(15)|lung(34)|ovary(4)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(5)	79		all_cancers(76;9.88e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0248)|Colorectal(196;0.13)		BRCA - Breast invasive adenocarcinoma(108;0.0774)		CAAAATACTGCCGGTGAGAGC	0.448																																						uc003pqj.3																			1	Substitution - coding silent(1)		lung(1)	ovary(4)	4						c.(2107-2109)CGG>CGA		single-minded homolog 1							113.0	111.0	112.0					6																	100838429		2203	4300	6503	SO:0001819	synonymous_variant	6492				cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity	g.chr6:100838429C>T	U70212	CCDS5045.1	6q16.3	2013-10-17	2013-10-17		ENSG00000112246	ENSG00000112246		"""Basic helix-loop-helix proteins"""	10882	protein-coding gene	gene with protein product		603128	"""single-minded (Drosophila) homolog 1"", ""single-minded homolog 1 (Drosophila)"""			9199934, 11448938	Standard	NM_005068		Approved	bHLHe14	uc003pqj.4	P81133	OTTHUMG00000015275	ENST00000369208.3:c.2109G>A	6.37:g.100838429C>T						SIM1_uc010kcu.2_Silent_p.R703R	p.R703R	NM_005068	NP_005059	P81133	SIM1_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0774)	11	2316	-		all_cancers(76;9.88e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0248)|Colorectal(196;0.13)	703			Single-minded C-terminal.		Q5TDP7	Silent	SNP	ENST00000369208.3	37	c.2109G>A	CCDS5045.1																																																																																				PASS	0.448	SIM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041628.3	NM_005068		4	214	4	214	---	---	---	---
GPR6	2830	broad.mit.edu	37	6	110301089	110301089	+	Silent	SNP	G	G	A			TCGA-66-2766-01A-01D-1522-08	TCGA-66-2766-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	452b75d0-1818-46aa-8804-9cfc0bd66449	81a4d615-e95e-4c17-87f7-c06d8dd4975a	g.chr6:110301089G>A	ENST00000275169.3	+	1	792	c.774G>A	c.(772-774)caG>caA	p.Q258Q	GPR6_ENST00000414000.2_Silent_p.Q273Q	NM_005284.3	NP_005275.1	P46095	GPR6_HUMAN	G protein-coupled receptor 6	258					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)	p.Q258Q(1)		breast(1)|endometrium(1)|large_intestine(7)|lung(7)|prostate(1)|skin(1)	18		all_cancers(87;1.64e-05)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;2.83e-05)|all_lung(197;0.00016)|Lung NSC(302;0.000318)|Colorectal(196;0.0488)		BRCA - Breast invasive adenocarcinoma(108;8.01e-05)|Epithelial(106;8.76e-05)|all cancers(137;0.000197)|OV - Ovarian serous cystadenocarcinoma(136;0.0307)		ACGCGCACCAGATCGCGCTGC	0.657																																						uc011eaw.1																			1	Substitution - coding silent(1)		lung(1)		0						c.(772-774)CAG>CAA		G protein-coupled receptor 6							31.0	28.0	29.0					6																	110301089		2203	4298	6501	SO:0001819	synonymous_variant	2830					integral to plasma membrane		g.chr6:110301089G>A		CCDS5079.1, CCDS69172.1	6q21	2012-08-21				ENSG00000146360		"""GPCR / Class A : Orphans"""	4515	protein-coding gene	gene with protein product		600553				8530049	Standard	NM_001286099		Approved		uc003ptu.3	P46095	OTTHUMG00000015354	ENST00000275169.3:c.774G>A	6.37:g.110301089G>A						GPR6_uc011eav.1_Silent_p.Q273Q|GPR6_uc003ptu.2_Silent_p.Q258Q	p.Q258Q	NM_005284	NP_005275	P46095	GPR6_HUMAN		BRCA - Breast invasive adenocarcinoma(108;8.01e-05)|Epithelial(106;8.76e-05)|all cancers(137;0.000197)|OV - Ovarian serous cystadenocarcinoma(136;0.0307)	2	954	+		all_cancers(87;1.64e-05)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;2.83e-05)|all_lung(197;0.00016)|Lung NSC(302;0.000318)|Colorectal(196;0.0488)	258			Cytoplasmic (Potential).		B4DHS9|J3KQR3|Q17RJ7|Q5SYL0	Silent	SNP	ENST00000275169.3	37	c.774G>A	CCDS5079.1																																																																																				PASS	0.657	GPR6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041774.1			14	43	14	43	---	---	---	---
RNF146	81847	broad.mit.edu	37	6	127608136	127608136	+	Silent	SNP	A	A	G			TCGA-66-2766-01A-01D-1522-08	TCGA-66-2766-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	452b75d0-1818-46aa-8804-9cfc0bd66449	81a4d615-e95e-4c17-87f7-c06d8dd4975a	g.chr6:127608136A>G	ENST00000368314.1	+	3	802	c.378A>G	c.(376-378)gaA>gaG	p.E126E	RNF146_ENST00000356799.2_3'UTR|RNF146_ENST00000309649.3_Silent_p.E125E|RNF146_ENST00000608991.1_Silent_p.E125E|RNF146_ENST00000610153.1_Silent_p.E126E	NM_001242850.1|NM_001242851.1	NP_001229779.1|NP_001229780.1	Q9NTX7	RN146_HUMAN	ring finger protein 146	126	WWE. {ECO:0000255|PROSITE- ProRule:PRU00248}.				positive regulation of canonical Wnt signaling pathway (GO:0090263)|protein autoubiquitination (GO:0051865)|protein K48-linked ubiquitination (GO:0070936)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|Wnt signaling pathway (GO:0016055)	cytosol (GO:0005829)|nucleus (GO:0005634)	ligase activity (GO:0016874)|poly-ADP-D-ribose binding (GO:0072572)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.E125E(1)		endometrium(3)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)	10				GBM - Glioblastoma multiforme(226;0.0407)|all cancers(137;0.2)		GAGAGCTGGAAGATGCTTTTT	0.403																																						uc003qav.2																			1	Substitution - coding silent(1)		lung(1)	kidney(1)	1						c.(376-378)GAA>GAG		ring finger protein 146							93.0	83.0	86.0					6																	127608136		2203	4300	6503	SO:0001819	synonymous_variant	81847				positive regulation of canonical Wnt receptor signaling pathway|protein autoubiquitination|protein K48-linked ubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway	cytosol	poly-ADP-D-ribose binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr6:127608136A>G	AK027558	CCDS5136.1, CCDS56449.1	6q22.1-q22.33	2008-02-05			ENSG00000118518	ENSG00000118518		"""RING-type (C3HC4) zinc fingers"""	21336	protein-coding gene	gene with protein product		612137					Standard	NM_001242844		Approved	DKFZp434O1427, dactylidin, dJ351K20.1	uc021zes.1	Q9NTX7	OTTHUMG00000015522	ENST00000368314.1:c.378A>G	6.37:g.127608136A>G						RNF146_uc003qat.2_Silent_p.E125E|RNF146_uc003qau.2_Silent_p.E125E|RNF146_uc003qaw.2_Silent_p.E125E	p.E126E	NM_030963	NP_112225	Q9NTX7	RN146_HUMAN		GBM - Glioblastoma multiforme(226;0.0407)|all cancers(137;0.2)	3	537	+			126			WWE.		E1P572|Q6FIB2|Q7L8H4|Q96K03|Q96T06|Q9NTX6	Silent	SNP	ENST00000368314.1	37	c.378A>G	CCDS56449.1																																																																																				PASS	0.403	RNF146-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000042112.1	NM_030963		35	113	35	113	---	---	---	---
LAMA2	3908	broad.mit.edu	37	6	129612773	129612773	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2766-01A-01D-1522-08	TCGA-66-2766-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	452b75d0-1818-46aa-8804-9cfc0bd66449	81a4d615-e95e-4c17-87f7-c06d8dd4975a	g.chr6:129612773G>T	ENST00000421865.2	+	20	2813	c.2764G>T	c.(2764-2766)Gcc>Tcc	p.A922S		NM_000426.3|NM_001079823.1	NP_000417|NP_001073291.1	P24043	LAMA2_HUMAN	laminin, alpha 2	922	Laminin EGF-like 9. {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.A922S(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)		TCGCTGTAATGCCGGTGGCTC	0.448																																						uc003qbn.2																			1	Substitution - Missense(1)		lung(1)	ovary(8)|breast(1)|skin(1)	10						c.(2764-2766)GCC>TCC		laminin alpha 2 subunit isoform a precursor							82.0	76.0	78.0					6																	129612773		2203	4300	6503	SO:0001583	missense	3908				cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity	g.chr6:129612773G>T	Z26653	CCDS5138.1	6q22-q23	2014-09-17	2008-08-01		ENSG00000196569	ENSG00000196569		"""Laminins"""	6482	protein-coding gene	gene with protein product	"""merosin"", ""congenital muscular dystrophy"""	156225		LAMM		2185464, 8294519	Standard	NM_000426		Approved		uc003qbn.3	P24043	OTTHUMG00000015545	ENST00000421865.2:c.2764G>T	6.37:g.129612773G>T	ENSP00000400365:p.Ala922Ser					LAMA2_uc003qbo.2_Missense_Mutation_p.A922S	p.A922S	NM_000426	NP_000417	P24043	LAMA2_HUMAN		OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)	20	2869	+			922			Laminin EGF-like 9.		Q14736|Q5VUM2|Q93022	Missense_Mutation	SNP	ENST00000421865.2	37	c.2764G>T	CCDS5138.1	.	.	.	.	.	.	.	.	.	.	G	2.901	-0.227595	0.06022	.	.	ENSG00000196569	ENST00000358023;ENST00000354729;ENST00000421865	T	0.61158	0.13	5.78	1.21	0.21127	EGF-like, laminin (3);	1.003190	0.08029	N	0.993259	T	0.11537	0.0281	N	0.08118	0	0.09310	N	1	B;B	0.17667	0.023;0.023	B;B	0.15052	0.012;0.012	T	0.31530	-0.9940	10	0.08381	T	0.77	.	6.4945	0.22133	0.2922:0.2277:0.4802:0.0	.	922;922	A6NF00;P24043	.;LAMA2_HUMAN	S	922	ENSP00000400365:A922S	ENSP00000346769:A922S	A	+	1	0	LAMA2	129654466	0.000000	0.05858	0.164000	0.22755	0.915000	0.54546	-0.424000	0.07025	0.385000	0.24970	-0.282000	0.10007	GCC		PASS	0.448	LAMA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042180.1			20	73	20	73	---	---	---	---
BCLAF1	9774	broad.mit.edu	37	6	136600997	136600997	+	Missense_Mutation	SNP	C	C	T	rs148729378	byFrequency	TCGA-66-2766-01A-01D-1522-08	TCGA-66-2766-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	452b75d0-1818-46aa-8804-9cfc0bd66449	81a4d615-e95e-4c17-87f7-c06d8dd4975a	g.chr6:136600997C>T	ENST00000531224.1	-	3	260	c.8G>A	c.(7-9)cGc>cAc	p.R3H	BCLAF1_ENST00000527536.1_Missense_Mutation_p.R3H|BCLAF1_ENST00000527759.1_Missense_Mutation_p.R3H|BCLAF1_ENST00000353331.4_Missense_Mutation_p.R3H|BCLAF1_ENST00000392348.2_Missense_Mutation_p.R3H|BCLAF1_ENST00000530767.1_Missense_Mutation_p.R3H	NM_001077441.1|NM_014739.2	NP_001070909.1|NP_055554.1	Q9NYF8	BCLF1_HUMAN	BCL2-associated transcription factor 1	3					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.R3H(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)		AGAATTGGAGCGACCCATTTC	0.308																																					Colon(142;1534 1789 5427 7063 28491)	uc003qgx.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(7-9)CGC>CAC		BCL2-associated transcription factor 1 isoform		C	HIS/ARG,HIS/ARG,HIS/ARG	0,4406		0,0,2203	79.0	70.0	73.0		8,8,8	5.8	1.0	6	dbSNP_134	73	2,8598	1.2+/-3.3	0,2,4298	no	missense,missense,missense	BCLAF1	NM_001077440.1,NM_001077441.1,NM_014739.2	29,29,29	0,2,6501	TT,TC,CC		0.0233,0.0,0.0154	probably-damaging,probably-damaging,probably-damaging	3/870,3/748,3/921	136600997	2,13004	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.chr6:136600997C>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.8G>A	6.37:g.136600997C>T	ENSP00000435210:p.Arg3His					BCLAF1_uc003qgw.1_Missense_Mutation_p.R3H|BCLAF1_uc003qgy.1_Missense_Mutation_p.R3H|BCLAF1_uc011edc.1_RNA|BCLAF1_uc011edd.1_RNA|BCLAF1_uc011ede.1_Missense_Mutation_p.R3H	p.R3H	NM_014739	NP_055554	Q9NYF8	BCLF1_HUMAN		GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331)	3	261	-	Colorectal(23;0.24)		3					A2RU75|B7ZM58|E1P586|Q14673|Q86WU6|Q86WY0	Missense_Mutation	SNP	ENST00000531224.1	37	c.8G>A	CCDS5177.1	2	9.157509157509158E-4	0	0.0	1	0.0027624309392265192	1	0.0017482517482517483	0	0.0	C	18.58	3.655620	0.67586	0.0	2.33E-4	ENSG00000029363	ENST00000531224;ENST00000353331;ENST00000527536;ENST00000530767;ENST00000527759;ENST00000392348;ENST00000529826	T;T;T;T;T;T;T	0.28069	2.01;1.85;1.93;1.63;1.93;1.85;1.78	5.77	5.77	0.91146	.	0.000000	0.64402	D	0.000003	T	0.36110	0.0955	L	0.36672	1.1	0.80722	D	1	D;D;D;D	0.76494	0.999;0.999;0.999;0.999	D;D;D;D	0.74674	0.984;0.984;0.984;0.984	T	0.10268	-1.0637	10	0.87932	D	0	-3.479	13.5536	0.61747	0.0:0.9288:0.0:0.0712	.	3;3;3;3	Q9NYF8-2;Q9NYF8-3;Q9NYF8;Q9NYF8-4	.;.;BCLF1_HUMAN;.	H	3	ENSP00000435210:R3H;ENSP00000229446:R3H;ENSP00000435441:R3H;ENSP00000436501:R3H;ENSP00000434826:R3H;ENSP00000376159:R3H;ENSP00000431734:R3H	ENSP00000229446:R3H	R	-	2	0	BCLAF1	136642690	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	3.332000	0.52083	2.890000	0.99128	0.585000	0.79938	CGC		PASS	0.308	BCLAF1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042375.2	NM_014739		57	78	57	78	---	---	---	---
PLG	5340	broad.mit.edu	37	6	161132158	161132158	+	Silent	SNP	G	G	T			TCGA-66-2766-01A-01D-1522-08	TCGA-66-2766-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	452b75d0-1818-46aa-8804-9cfc0bd66449	81a4d615-e95e-4c17-87f7-c06d8dd4975a	g.chr6:161132158G>T	ENST00000308192.9	+	4	405	c.342G>T	c.(340-342)acG>acT	p.T114T	PLG_ENST00000462918.1_3'UTR|PLG_ENST00000366924.2_Silent_p.T114T	NM_000301.3	NP_000292.1	P00747	PLMN_HUMAN	plasminogen	114	Kringle 1. {ECO:0000255|PROSITE- ProRule:PRU00121}.				blood coagulation (GO:0007596)|cellular protein metabolic process (GO:0044267)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|fibrinolysis (GO:0042730)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-cell adhesion mediated by cadherin (GO:2000048)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of fibrinolysis (GO:0051918)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of fibrinolysis (GO:0051919)|tissue remodeling (GO:0048771)	blood microparticle (GO:0072562)|cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|extrinsic component of external side of plasma membrane (GO:0031232)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)	apolipoprotein binding (GO:0034185)|protein domain specific binding (GO:0019904)|serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)	p.T114T(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)	59				OV - Ovarian serous cystadenocarcinoma(65;5.24e-17)|BRCA - Breast invasive adenocarcinoma(81;7.08e-06)	Alteplase(DB00009)|Aminocaproic Acid(DB00513)|Anistreplase(DB00029)|Aprotinin(DB06692)|Reteplase(DB00015)|Streptokinase(DB00086)|Tenecteplase(DB00031)|Tranexamic Acid(DB00302)|Urokinase(DB00013)	ACAGAGGGACGATGTCCAAAA	0.443																																						uc003qtm.3																			1	Substitution - coding silent(1)		lung(1)	skin(3)|ovary(1)	4						c.(340-342)ACG>ACT		plasminogen	Aminocaproic Acid(DB00513)|Streptokinase(DB00086)|Tranexamic Acid(DB00302)|Urokinase(DB00013)						110.0	98.0	102.0					6																	161132158		2203	4297	6500	SO:0001819	synonymous_variant	5340				extracellular matrix disassembly|fibrinolysis|negative regulation of cell proliferation|negative regulation of cell-substrate adhesion|negative regulation of fibrinolysis|platelet activation|platelet degranulation|positive regulation of fibrinolysis|proteolysis|tissue remodeling	extracellular space|extrinsic to external side of plasma membrane|platelet alpha granule lumen	apolipoprotein binding|cell surface binding|serine-type endopeptidase activity	g.chr6:161132158G>T	M74220	CCDS5279.1, CCDS55074.1	6q26	2012-10-02			ENSG00000122194	ENSG00000122194			9071	protein-coding gene	gene with protein product		173350					Standard	NM_000301		Approved		uc003qtm.4	P00747	OTTHUMG00000015957	ENST00000308192.9:c.342G>T	6.37:g.161132158G>T							p.T114T	NM_000301	NP_000292	P00747	PLMN_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;5.24e-17)|BRCA - Breast invasive adenocarcinoma(81;7.08e-06)	4	405	+			114			Kringle 1.		Q15146|Q5TEH4|Q6PA00	Silent	SNP	ENST00000308192.9	37	c.342G>T	CCDS5279.1																																																																																				PASS	0.443	PLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042959.2	NM_000301		49	48	49	48	---	---	---	---
PHF10	55274	broad.mit.edu	37	6	170105257	170105257	+	Silent	SNP	A	A	G			TCGA-66-2766-01A-01D-1522-08	TCGA-66-2766-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	452b75d0-1818-46aa-8804-9cfc0bd66449	81a4d615-e95e-4c17-87f7-c06d8dd4975a	g.chr6:170105257A>G	ENST00000339209.4	-	11	1506	c.1383T>C	c.(1381-1383)ttT>ttC	p.F461F	PHF10_ENST00000366780.4_Silent_p.F459F|C6orf120_ENST00000332290.2_3'UTR	NM_018288.3|NM_133325.2	NP_060758.2|NP_579866.2	Q8WUB8	PHF10_HUMAN	PHD finger protein 10	461					nervous system development (GO:0007399)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	npBAF complex (GO:0071564)	zinc ion binding (GO:0008270)	p.F461F(1)|p.F373F(1)		endometrium(2)|large_intestine(2)|liver(3)|lung(4)|prostate(2)|urinary_tract(1)	14		Breast(66;5.08e-05)|Ovarian(120;0.208)		OV - Ovarian serous cystadenocarcinoma(33;1.4e-21)|BRCA - Breast invasive adenocarcinoma(81;1.4e-07)|GBM - Glioblastoma multiforme(31;0.00176)		GGCCCACACAAAAAGTATGAT	0.403																																						uc011egy.1																			2	Substitution - coding silent(2)		lung(2)	urinary_tract(1)	1						c.(1381-1383)TTT>TTC		PHD finger protein 10 isoform a							166.0	147.0	154.0					6																	170105257		2203	4300	6503	SO:0001819	synonymous_variant	55274				nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	npBAF complex	zinc ion binding	g.chr6:170105257A>G	AF338735	CCDS5308.2, CCDS5309.2	6q27	2014-05-13			ENSG00000130024	ENSG00000130024		"""Zinc fingers, PHD-type"""	18250	protein-coding gene	gene with protein product		613069				11827455	Standard	NM_018288		Approved	FLJ10975, XAP135, BAF45a	uc011egy.2	Q8WUB8	OTTHUMG00000016058	ENST00000339209.4:c.1383T>C	6.37:g.170105257A>G						C6orf120_uc003qxb.2_3'UTR|PHF10_uc011egz.1_Silent_p.F459F	p.F461F	NM_018288	NP_060758	Q8WUB8	PHF10_HUMAN		OV - Ovarian serous cystadenocarcinoma(33;1.4e-21)|BRCA - Breast invasive adenocarcinoma(81;1.4e-07)|GBM - Glioblastoma multiforme(31;0.00176)	11	1462	-		Breast(66;5.08e-05)|Ovarian(120;0.208)	461			PHD-type 2; degenerate.		Q2YDA3|Q53HG8|Q9BXD2|Q9NV26	Silent	SNP	ENST00000339209.4	37	c.1383T>C	CCDS5308.2																																																																																				PASS	0.403	PHF10-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000346732.1	NM_018288		29	116	29	116	---	---	---	---
RADIL	55698	broad.mit.edu	37	7	4841590	4841590	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2766-01A-01D-1522-08	TCGA-66-2766-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	452b75d0-1818-46aa-8804-9cfc0bd66449	81a4d615-e95e-4c17-87f7-c06d8dd4975a	g.chr7:4841590C>A	ENST00000399583.3	-	12	2723	c.2536G>T	c.(2536-2538)Gcc>Tcc	p.A846S	RADIL_ENST00000538469.1_Missense_Mutation_p.A606S|RADIL_ENST00000536091.1_3'UTR	NM_018059.4	NP_060529.4	Q96JH8	RADIL_HUMAN	Ras association and DIL domains	846					multicellular organismal development (GO:0007275)|signal transduction (GO:0007165)|substrate adhesion-dependent cell spreading (GO:0034446)	microtubule (GO:0005874)		p.A846S(1)		NS(1)|biliary_tract(2)|breast(1)|central_nervous_system(3)|endometrium(2)|large_intestine(2)|lung(22)|pancreas(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0986)|OV - Ovarian serous cystadenocarcinoma(56;7.41e-15)		CAGCTCGGGGCCTCCAGGTGC	0.687																																						uc003snj.1																			1	Substitution - Missense(1)		lung(1)	lung(2)|central_nervous_system(2)|pancreas(2)|breast(1)	7						c.(2536-2538)GCC>TCC		Rap GTPase interactor							5.0	7.0	6.0					7																	4841590		1583	3444	5027	SO:0001583	missense	55698				cell adhesion|multicellular organismal development|signal transduction		protein binding	g.chr7:4841590C>A	AB058752	CCDS43544.1	7p22.1	2010-08-27			ENSG00000157927	ENSG00000157927			22226	protein-coding gene	gene with protein product		611491				16051602, 17704304	Standard	NM_018059		Approved	FLJ10324, KIAA1849, RASIP2	uc003snj.1	Q96JH8	OTTHUMG00000151753	ENST00000399583.3:c.2536G>T	7.37:g.4841590C>A	ENSP00000382492:p.Ala846Ser					RADIL_uc003sng.1_RNA|RADIL_uc003sni.1_Missense_Mutation_p.A351S|RADIL_uc011jwc.1_Missense_Mutation_p.A606S|RADIL_uc011jwd.1_RNA|RADIL_uc003snh.1_Missense_Mutation_p.A142S	p.A846S	NM_018059	NP_060529	Q96JH8	RADIL_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.0986)|OV - Ovarian serous cystadenocarcinoma(56;7.41e-15)	12	2709	-		Ovarian(82;0.0175)	846					A4D1Z5|A5YM49|B7ZL20|Q0VFZ9|Q75LH3|Q9BSP5|Q9H0M6|Q9NW43|Q9NWC4	Missense_Mutation	SNP	ENST00000399583.3	37	c.2536G>T	CCDS43544.1	.	.	.	.	.	.	.	.	.	.	C	2.174	-0.389301	0.04932	.	.	ENSG00000157927	ENST00000399583;ENST00000316919;ENST00000544486;ENST00000538469	T;T	0.06218	3.4;3.33	5.08	3.18	0.36537	.	1.524830	0.03885	N	0.277722	T	0.04452	0.0122	N	0.19112	0.55	0.09310	N	1	B;B	0.19583	0.003;0.037	B;B	0.08055	0.002;0.003	T	0.40924	-0.9537	10	0.07482	T	0.82	-2.2344	5.4787	0.16710	0.0:0.6526:0.1688:0.1786	.	846;154	Q96JH8;Q75LH2	RADIL_HUMAN;.	S	846;817;580;606	ENSP00000382492:A846S;ENSP00000442966:A606S	ENSP00000320946:A817S	A	-	1	0	RADIL	4808116	0.000000	0.05858	0.001000	0.08648	0.010000	0.07245	0.215000	0.17562	1.065000	0.40693	0.563000	0.77884	GCC		PASS	0.687	RADIL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323769.2	NM_018059		3	3	3	3	---	---	---	---
THSD7A	221981	broad.mit.edu	37	7	11416260	11416260	+	Missense_Mutation	SNP	T	T	C			TCGA-66-2766-01A-01D-1522-08	TCGA-66-2766-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	452b75d0-1818-46aa-8804-9cfc0bd66449	81a4d615-e95e-4c17-87f7-c06d8dd4975a	g.chr7:11416260T>C	ENST00000423059.4	-	27	5077	c.4826A>G	c.(4825-4827)tAc>tGc	p.Y1609C	AC004538.3_ENST00000445839.1_RNA|AC004538.3_ENST00000421121.1_RNA|AC004538.3_ENST00000595972.1_RNA|AC004538.3_ENST00000599875.1_RNA|AC004538.3_ENST00000428967.1_RNA	NM_015204.2	NP_056019.1	Q9UPZ6	THS7A_HUMAN	thrombospondin, type I, domain containing 7A	1609					angiogenesis (GO:0001525)|cell differentiation (GO:0030154)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.Y1609C(1)		NS(1)|autonomic_ganglia(1)|breast(5)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(7)|lung(68)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(11)	113				UCEC - Uterine corpus endometrioid carcinoma (126;0.163)		TGCTACACCGTAAACCCAGGT	0.348										HNSCC(18;0.044)																												uc003ssf.3																			1	Substitution - Missense(1)		lung(1)	ovary(3)	3						c.(4825-4827)TAC>TGC		thrombospondin, type I, domain containing 7A							60.0	62.0	62.0					7																	11416260		1859	4100	5959	SO:0001583	missense	221981					integral to membrane		g.chr7:11416260T>C		CCDS47543.1	7p21.3	2006-10-16			ENSG00000005108	ENSG00000005108			22207	protein-coding gene	gene with protein product		612249					Standard	NM_015204		Approved	KIAA0960	uc021zzn.1	Q9UPZ6	OTTHUMG00000152346	ENST00000423059.4:c.4826A>G	7.37:g.11416260T>C	ENSP00000406482:p.Tyr1609Cys	HNSCC(18;0.044)				uc003ssb.2_Intron|THSD7A_uc003ssd.3_Missense_Mutation_p.Y113C	p.Y1609C	NM_015204	NP_056019	Q9UPZ6	THS7A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.163)	26	5078	-			1609			Helical; (Potential).			Missense_Mutation	SNP	ENST00000423059.4	37	c.4826A>G	CCDS47543.1	.	.	.	.	.	.	.	.	.	.	T	21.4	4.140543	0.77775	.	.	ENSG00000005108	ENST00000262042;ENST00000423059	T	0.70282	-0.47	5.07	5.07	0.68467	.	0.000000	0.85682	D	0.000000	D	0.82499	0.5050	M	0.67397	2.05	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	D	0.84795	0.0781	10	0.87932	D	0	.	15.1623	0.72793	0.0:0.0:0.0:1.0	.	1609;1609	Q9UPZ6;C9JL67	THS7A_HUMAN;.	C	1609	ENSP00000406482:Y1609C	ENSP00000262042:Y1609C	Y	-	2	0	THSD7A	11382785	1.000000	0.71417	0.994000	0.49952	0.994000	0.84299	7.593000	0.82686	2.032000	0.59987	0.528000	0.53228	TAC		PASS	0.348	THSD7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325944.4	XM_928187.2		5	7	5	7	---	---	---	---
SCIN	85477	broad.mit.edu	37	7	12692275	12692275	+	Nonsense_Mutation	SNP	A	A	T			TCGA-66-2766-01A-01D-1522-08	TCGA-66-2766-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	452b75d0-1818-46aa-8804-9cfc0bd66449	81a4d615-e95e-4c17-87f7-c06d8dd4975a	g.chr7:12692275A>T	ENST00000297029.5	+	16	2184	c.2083A>T	c.(2083-2085)Aaa>Taa	p.K695*	SCIN_ENST00000519209.1_Nonsense_Mutation_p.K448*|AC011891.5_ENST00000437088.1_lincRNA|SCIN_ENST00000445618.2_Nonsense_Mutation_p.K448*	NM_001112706.2	NP_001106177.1	Q9Y6U3	ADSV_HUMAN	scinderin	695	Ca(2+)-dependent actin binding.				actin filament capping (GO:0051693)|actin filament severing (GO:0051014)|actin nucleation (GO:0045010)|calcium ion-dependent exocytosis (GO:0017156)|negative regulation of cell proliferation (GO:0008285)|positive regulation of apoptotic process (GO:0043065)|positive regulation of megakaryocyte differentiation (GO:0045654)|positive regulation of secretion (GO:0051047)|regulation of chondrocyte differentiation (GO:0032330)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|protein complex (GO:0043234)	1-phosphatidylinositol binding (GO:0005545)|actin binding (GO:0003779)|actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|phosphatidylserine binding (GO:0001786)	p.K695*(2)		endometrium(3)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)	17				UCEC - Uterine corpus endometrioid carcinoma (126;0.195)		TGTCATCATAAAACAGGGCCA	0.403																																						uc003ssn.3																			2	Substitution - Nonsense(2)		lung(2)	ovary(2)	2						c.(2083-2085)AAA>TAA		scinderin isoform 1							88.0	90.0	89.0					7																	12692275		1956	4185	6141	SO:0001587	stop_gained	85477				actin filament capping|actin filament severing|actin nucleation|calcium ion-dependent exocytosis|negative regulation of cell proliferation|positive regulation of apoptosis|positive regulation of megakaryocyte differentiation|positive regulation of secretion|regulation of chondrocyte differentiation	cell cortex|cytoskeleton	1-phosphatidylinositol binding|actin filament binding|calcium ion binding|phosphatidylinositol-4,5-bisphosphate binding|phosphatidylserine binding	g.chr7:12692275A>T	AF276507	CCDS47545.1, CCDS47546.1	7p21.3	2006-04-25			ENSG00000006747	ENSG00000006747			21695	protein-coding gene	gene with protein product		613416					Standard	NM_033128		Approved	adseverin, KIAA1905	uc003ssn.4	Q9Y6U3	OTTHUMG00000152385	ENST00000297029.5:c.2083A>T	7.37:g.12692275A>T	ENSP00000297029:p.Lys695*					SCIN_uc010ktt.2_RNA|SCIN_uc003sso.3_Nonsense_Mutation_p.K448*	p.K695*	NM_001112706	NP_001106177	Q9Y6U3	ADSV_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.195)	16	2293	+			695			Ca(2+)-dependent actin binding.		A8K2U8|Q8NBZ6|Q8WU97|Q96JC7|Q96PY2	Nonsense_Mutation	SNP	ENST00000297029.5	37	c.2083A>T	CCDS47545.1	.	.	.	.	.	.	.	.	.	.	A	39	7.492630	0.98319	.	.	ENSG00000006747	ENST00000297029;ENST00000519209;ENST00000445618	.	.	.	5.59	5.59	0.84812	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-24.3063	15.7692	0.78152	1.0:0.0:0.0:0.0	.	.	.	.	X	695;448;448	.	ENSP00000297029:K695X	K	+	1	0	SCIN	12658800	1.000000	0.71417	0.998000	0.56505	0.891000	0.51852	8.707000	0.91367	2.126000	0.65437	0.528000	0.53228	AAA		PASS	0.403	SCIN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326041.1	NM_033128		50	82	50	82	---	---	---	---
DNAH11	8701	broad.mit.edu	37	7	21847576	21847576	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2766-01A-01D-1522-08	TCGA-66-2766-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	452b75d0-1818-46aa-8804-9cfc0bd66449	81a4d615-e95e-4c17-87f7-c06d8dd4975a	g.chr7:21847576C>T	ENST00000409508.3	+	63	10272	c.10241C>T	c.(10240-10242)aCg>aTg	p.T3414M	DNAH11_ENST00000328843.6_Missense_Mutation_p.T3421M	NM_001277115.1	NP_001264044.1	Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	3421					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.T3421M(2)		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						GTTCTTCTCACGGCGGCATTT	0.478									Kartagener syndrome																													uc003svc.2																			2	Substitution - Missense(2)		lung(1)|endometrium(1)	ovary(8)|large_intestine(3)|pancreas(3)|central_nervous_system(1)	15						c.(10261-10263)ACG>ATG		dynein, axonemal, heavy chain 11							64.0	64.0	64.0					7																	21847576		1915	4123	6038	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.chr7:21847576C>T	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.10241C>T	7.37:g.21847576C>T	ENSP00000475939:p.Thr3414Met						p.T3421M	NM_003777	NP_003768	Q96DT5	DYH11_HUMAN			64	10293	+			3421					Q9UJ82	Missense_Mutation	SNP	ENST00000409508.3	37	c.10262C>T		.	.	.	.	.	.	.	.	.	.	C	7.304	0.613632	0.14066	.	.	ENSG00000105877	ENST00000328843	T	0.74106	-0.81	6.02	2.31	0.28768	Dynein heavy chain, coiled coil stalk (1);	0.177951	0.64402	N	0.000011	T	0.68833	0.3044	.	.	.	0.09310	N	0.999992	P	0.39352	0.669	B	0.40940	0.344	T	0.61158	-0.7119	9	0.62326	D	0.03	.	10.9185	0.47150	0.0:0.7533:0.0:0.2467	.	3421	Q96DT5	DYH11_HUMAN	M	3421	ENSP00000330671:T3421M	ENSP00000330671:T3421M	T	+	2	0	DNAH11	21814101	0.276000	0.24211	0.001000	0.08648	0.041000	0.13682	1.766000	0.38491	0.165000	0.19558	-0.136000	0.14681	ACG		PASS	0.478	DNAH11-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000326582.6	NM_003777		10	16	10	16	---	---	---	---
NUPL2	11097	broad.mit.edu	37	7	23224737	23224737	+	Missense_Mutation	SNP	T	T	G			TCGA-66-2766-01A-01D-1522-08	TCGA-66-2766-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	452b75d0-1818-46aa-8804-9cfc0bd66449	81a4d615-e95e-4c17-87f7-c06d8dd4975a	g.chr7:23224737T>G	ENST00000258742.5	+	2	429	c.170T>G	c.(169-171)gTc>gGc	p.V57G	NUPL2_ENST00000487595.1_3'UTR|NUPL2_ENST00000410002.3_Missense_Mutation_p.V57G|AC005082.1_ENST00000366347.4_Intron	NM_007342.2	NP_031368.1	O15504	NUPL2_HUMAN	nucleoporin like 2	57					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)|protein export from nucleus (GO:0006611)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|nuclear pore (GO:0005643)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|nuclear export signal receptor activity (GO:0005049)|poly(A) RNA binding (GO:0044822)	p.V57G(1)		breast(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(4)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						TATTCCAATGTCATCCAGCCA	0.363																																						uc003svu.2																			1	Substitution - Missense(1)		lung(1)	skin(2)|ovary(1)	3						c.(169-171)GTC>GGC		nucleoporin like 2							74.0	74.0	74.0					7																	23224737		2203	4300	6503	SO:0001583	missense	11097				carbohydrate metabolic process|glucose transport|mRNA transport|protein export from nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear membrane|nuclear pore	nuclear export signal receptor activity|nucleic acid binding|zinc ion binding	g.chr7:23224737T>G	U97198	CCDS5379.1	7p15	2003-08-07			ENSG00000136243	ENSG00000136243			17010	protein-coding gene	gene with protein product	"""nucleoporin-like protein 1"""					10358091, 9450185	Standard	NM_007342		Approved	NLP_1, CG1, hCG1, H_RG271G13.9	uc003svu.3	O15504	OTTHUMG00000096955	ENST00000258742.5:c.170T>G	7.37:g.23224737T>G	ENSP00000258742:p.Val57Gly					NUPL2_uc003svv.2_RNA|NUPL2_uc003svw.2_Intron|NUPL2_uc011jyw.1_RNA|NUPL2_uc003svx.2_5'UTR	p.V57G	NM_007342	NP_031368	O15504	NUPL2_HUMAN			2	429	+			57					A4D143|B4DP42|Q49AE7|Q9BS49	Missense_Mutation	SNP	ENST00000258742.5	37	c.170T>G	CCDS5379.1	.	.	.	.	.	.	.	.	.	.	T	15.07	2.723164	0.48728	.	.	ENSG00000136243	ENST00000258742;ENST00000410002;ENST00000413919	T;T;T	0.43688	0.94;0.94;0.94	6.07	6.07	0.98685	.	0.460337	0.23791	N	0.044540	T	0.61337	0.2339	M	0.62723	1.935	0.58432	D	0.999999	D	0.76494	0.999	D	0.69142	0.962	T	0.62501	-0.6841	10	0.59425	D	0.04	-6.0995	14.8649	0.70406	0.0:0.0:0.0:1.0	.	57	O15504	NUPL2_HUMAN	G	57	ENSP00000258742:V57G;ENSP00000387330:V57G;ENSP00000401475:V57G	ENSP00000258742:V57G	V	+	2	0	NUPL2	23191262	1.000000	0.71417	0.237000	0.24090	0.333000	0.28666	4.486000	0.60286	2.330000	0.79161	0.477000	0.44152	GTC		PASS	0.363	NUPL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214017.2	NM_007342		40	70	40	70	---	---	---	---
DFNA5	1687	broad.mit.edu	37	7	24749940	24749940	+	Silent	SNP	C	C	A			TCGA-66-2766-01A-01D-1522-08	TCGA-66-2766-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	452b75d0-1818-46aa-8804-9cfc0bd66449	81a4d615-e95e-4c17-87f7-c06d8dd4975a	g.chr7:24749940C>A	ENST00000342947.3	-	6	1190	c.765G>T	c.(763-765)ctG>ctT	p.L255L	DFNA5_ENST00000559637.1_5'UTR|DFNA5_ENST00000409970.1_Silent_p.L91L|DFNA5_ENST00000409775.3_Silent_p.L255L|DFNA5_ENST00000419307.1_Silent_p.L91L|DFNA5_ENST00000545231.1_Silent_p.L91L	NM_004403.2	NP_004394.1	O60443	DFNA5_HUMAN	deafness, autosomal dominant 5	255					apoptotic process (GO:0006915)|inner ear receptor cell differentiation (GO:0060113)|negative regulation of cell proliferation (GO:0008285)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|sensory perception of sound (GO:0007605)	cytoplasm (GO:0005737)		p.L255L(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(3)|stomach(1)	19						CCAGGGGGTCCAGGTAGACAG	0.473																																					GBM(78;184 1250 20134 20900 23600)	uc010kus.1																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(763-765)CTG>CTT		deafness, autosomal dominant 5 protein isoform							117.0	114.0	115.0					7																	24749940		2203	4300	6503	SO:0001819	synonymous_variant	1687				sensory perception of sound			g.chr7:24749940C>A	AF007790	CCDS5389.1, CCDS47563.1	7p15	2011-07-01			ENSG00000105928	ENSG00000105928			2810	protein-coding gene	gene with protein product		608798				8589696, 9450185	Standard	NM_004403		Approved	ICERE-1	uc010kus.1	O60443	OTTHUMG00000023237	ENST00000342947.3:c.765G>T	7.37:g.24749940C>A						DFNA5_uc003swz.2_Silent_p.L91L|DFNA5_uc003sxa.1_Silent_p.L255L|DFNA5_uc010kut.1_Silent_p.L91L	p.L255L	NM_001127453	NP_001120925	O60443	DFNA5_HUMAN			6	853	-			255					A4D156|B2RAX9|B3KT05|O14590|Q08AQ8|Q9UBV3	Silent	SNP	ENST00000342947.3	37	c.765G>T	CCDS5389.1	.	.	.	.	.	.	.	.	.	.	C	11.35	1.611646	0.28712	.	.	ENSG00000105928	ENST00000415480;ENST00000446822	.	.	.	5.47	4.58	0.56647	.	.	.	.	.	T	0.55737	0.1939	.	.	.	0.32202	N	0.577747	.	.	.	.	.	.	T	0.62969	-0.6741	4	.	.	.	-2.2217	12.8195	0.57685	0.164:0.836:0.0:0.0	.	.	.	.	L	44;80	.	.	W	-	2	0	DFNA5	24716465	0.005000	0.15991	0.021000	0.16686	0.245000	0.25701	0.940000	0.28992	1.266000	0.44231	0.563000	0.77884	TGG		PASS	0.473	DFNA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214060.2	NM_004403		66	87	66	87	---	---	---	---
ANLN	54443	broad.mit.edu	37	7	36450708	36450708	+	Missense_Mutation	SNP	A	A	G			TCGA-66-2766-01A-01D-1522-08	TCGA-66-2766-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	452b75d0-1818-46aa-8804-9cfc0bd66449	81a4d615-e95e-4c17-87f7-c06d8dd4975a	g.chr7:36450708A>G	ENST00000265748.2	+	7	1549	c.1328A>G	c.(1327-1329)gAc>gGc	p.D443G	ANLN_ENST00000495714.1_3'UTR|ANLN_ENST00000396068.2_Missense_Mutation_p.D443G	NM_018685.2	NP_061155.2	Q9NQW6	ANLN_HUMAN	anillin, actin binding protein	443	Interaction with F-actin.				hematopoietic progenitor cell differentiation (GO:0002244)|mitotic cytokinesis (GO:0000281)|mitotic nuclear division (GO:0007067)|regulation of exit from mitosis (GO:0007096)|septin ring assembly (GO:0000921)	actin cytoskeleton (GO:0015629)|actomyosin contractile ring (GO:0005826)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	actin binding (GO:0003779)	p.D443G(1)		breast(2)|endometrium(5)|kidney(5)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(2)	45						GGCCGATTTGACAAGGGCAAT	0.378																																						uc003tff.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(1)	3						c.(1327-1329)GAC>GGC		anillin, actin binding protein							97.0	91.0	93.0					7																	36450708		2203	4300	6503	SO:0001583	missense	54443				cytokinesis|mitosis|regulation of exit from mitosis|septin ring assembly	actomyosin contractile ring|nucleus	actin binding	g.chr7:36450708A>G	AF273437	CCDS5447.1, CCDS64628.1	7p15-p14	2013-01-10	2006-08-22		ENSG00000011426	ENSG00000011426		"""Pleckstrin homology (PH) domain containing"""	14082	protein-coding gene	gene with protein product			"""anillin (Drosophila Scraps homolog), actin binding protein"", ""anillin, actin binding protein (scraps homolog, Drosophila)"""			10931866	Standard	NM_001284301		Approved	ANILLIN, Scraps, scra	uc003tff.3	Q9NQW6	OTTHUMG00000023143	ENST00000265748.2:c.1328A>G	7.37:g.36450708A>G	ENSP00000265748:p.Asp443Gly					ANLN_uc011kaz.1_Missense_Mutation_p.D355G|ANLN_uc003tfg.2_Missense_Mutation_p.D443G|ANLN_uc010kxe.2_Missense_Mutation_p.D443G	p.D443G	NM_018685	NP_061155	Q9NQW6	ANLN_HUMAN			7	1532	+			443			Interaction with F-actin.		Q5CZ78|Q6NSK5|Q9H8Y4|Q9NVN9|Q9NVP0	Missense_Mutation	SNP	ENST00000265748.2	37	c.1328A>G	CCDS5447.1	.	.	.	.	.	.	.	.	.	.	A	20.9	4.058701	0.76074	.	.	ENSG00000011426	ENST00000265748;ENST00000396068	T;T	0.18810	2.27;2.19	5.5	4.33	0.51752	.	0.156815	0.56097	D	0.000024	T	0.43500	0.1250	M	0.72894	2.215	0.47698	D	0.999495	D;D;D;D	0.89917	1.0;0.992;0.998;0.996	D;P;D;P	0.87578	0.998;0.864;0.956;0.905	T	0.26744	-1.0094	10	0.49607	T	0.09	-18.182	11.4475	0.50131	0.8493:0.1507:0.0:0.0	.	320;443;443;443	B4DSL6;A8K5D9;Q9NQW6-2;Q9NQW6	.;.;.;ANLN_HUMAN	G	443	ENSP00000265748:D443G;ENSP00000379380:D443G	ENSP00000265748:D443G	D	+	2	0	ANLN	36417233	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.719000	0.74718	0.904000	0.36572	0.482000	0.46254	GAC		PASS	0.378	ANLN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000218582.3	NM_018685		26	53	26	53	---	---	---	---
INHBA	3624	broad.mit.edu	37	7	41729530	41729530	+	Silent	SNP	G	G	A			TCGA-66-2766-01A-01D-1522-08	TCGA-66-2766-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	452b75d0-1818-46aa-8804-9cfc0bd66449	81a4d615-e95e-4c17-87f7-c06d8dd4975a	g.chr7:41729530G>A	ENST00000242208.4	-	3	1245	c.999C>T	c.(997-999)atC>atT	p.I333I	AC005027.3_ENST00000416150.1_RNA|INHBA_ENST00000442711.1_Silent_p.I333I|INHBA_ENST00000464515.1_5'UTR	NM_002192.2	NP_002183.1	P08476	INHBA_HUMAN	inhibin, beta A	333					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.I333I(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						CATTCCAGCCGATGTCCTTGA	0.557										TSP Lung(11;0.080)																												uc003thq.2																			1	Substitution - coding silent(1)		lung(1)	lung(5)|ovary(1)	6						c.(997-999)ATC>ATT		inhibin beta A precursor							123.0	123.0	123.0					7																	41729530		2203	4300	6503	SO:0001819	synonymous_variant	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.chr7:41729530G>A		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.999C>T	7.37:g.41729530G>A		TSP Lung(11;0.080)				INHBA_uc003thr.2_Silent_p.I333I	p.I333I	NM_002192	NP_002183	P08476	INHBA_HUMAN			2	1234	-			333					Q14599	Silent	SNP	ENST00000242208.4	37	c.999C>T	CCDS5464.1																																																																																				PASS	0.557	INHBA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250793.1			47	84	47	84	---	---	---	---
URGCP	55665	broad.mit.edu	37	7	43917524	43917524	+	Missense_Mutation	SNP	T	T	A			TCGA-66-2766-01A-01D-1522-08	TCGA-66-2766-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	452b75d0-1818-46aa-8804-9cfc0bd66449	81a4d615-e95e-4c17-87f7-c06d8dd4975a	g.chr7:43917524T>A	ENST00000453200.1	-	6	2031	c.1538A>T	c.(1537-1539)cAg>cTg	p.Q513L	URGCP_ENST00000447717.3_Missense_Mutation_p.Q470L|URGCP_ENST00000443736.1_Missense_Mutation_p.Q470L|URGCP_ENST00000223341.7_Missense_Mutation_p.Q470L|URGCP_ENST00000497914.1_5'UTR|URGCP_ENST00000402306.3_Missense_Mutation_p.Q504L|URGCP_ENST00000336086.6_Missense_Mutation_p.Q470L|URGCP-MRPS24_ENST00000603700.1_Intron			Q8TCY9	URGCP_HUMAN	upregulator of cell proliferation	513					cell cycle (GO:0007049)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	GTP binding (GO:0005525)	p.Q470L(1)|p.Q513L(1)		breast(3)|endometrium(4)|kidney(2)|large_intestine(3)|liver(1)|lung(13)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						CCACTGGAGCTGGCAGAACTC	0.612																																						uc003tiw.2																			2	Substitution - Missense(2)		lung(2)	ovary(2)|liver(1)|skin(1)	4						c.(1537-1539)CAG>CTG		up-regulated gene 4 isoform 3							66.0	69.0	68.0					7																	43917524		1980	4161	6141	SO:0001583	missense	55665				cell cycle	centrosome|nucleus	GTP binding	g.chr7:43917524T>A		CCDS43572.1, CCDS47577.1, CCDS47578.1	7p13	2010-02-17			ENSG00000106608	ENSG00000106608			30890	protein-coding gene	gene with protein product	"""up-regulated gene 4"""	610337				10819331, 12082552	Standard	NM_017920		Approved	URG4, KIAA1507, FLJ20654, DKFZp666G166, DKFZp686O0457	uc003tiw.3	Q8TCY9	OTTHUMG00000155245	ENST00000453200.1:c.1538A>T	7.37:g.43917524T>A	ENSP00000396918:p.Gln513Leu					URGCP_uc003tiu.2_Missense_Mutation_p.Q470L|URGCP_uc003tiv.2_Missense_Mutation_p.Q438L|URGCP_uc003tix.2_Missense_Mutation_p.Q504L|URGCP_uc003tiy.2_Missense_Mutation_p.Q470L|URGCP_uc003tiz.2_Missense_Mutation_p.Q470L|URGCP_uc011kbj.1_Missense_Mutation_p.Q470L	p.Q513L	NM_001077663	NP_001071131	Q8TCY9	URGCP_HUMAN			6	1595	-			513					E9PFF6|Q658M4|Q68DH6|Q6MZZ5|Q8WV98|Q9NWR7|Q9P221	Missense_Mutation	SNP	ENST00000453200.1	37	c.1538A>T	CCDS47578.1	.	.	.	.	.	.	.	.	.	.	T	13.47	2.247325	0.39697	.	.	ENSG00000106608	ENST00000223341;ENST00000336086;ENST00000402306;ENST00000443736;ENST00000453200;ENST00000447717	T;T;T;T;T;T	0.10382	2.89;2.89;2.88;2.89;2.88;2.89	5.79	3.61	0.41365	.	0.354891	0.24544	N	0.037619	T	0.10637	0.0260	L	0.59436	1.845	0.33960	D	0.645549	P;P	0.36535	0.557;0.557	B;B	0.33620	0.167;0.167	T	0.15321	-1.0441	10	0.72032	D	0.01	-23.5706	5.7123	0.17941	0.0:0.4388:0.0:0.5612	.	504;513	Q8TCY9-2;Q8TCY9	.;URGCP_HUMAN	L	470;470;504;470;513;470	ENSP00000223341:Q470L;ENSP00000336872:Q470L;ENSP00000384955:Q504L;ENSP00000392136:Q470L;ENSP00000396918:Q513L;ENSP00000402803:Q470L	ENSP00000223341:Q470L	Q	-	2	0	URGCP	43884049	0.865000	0.29922	0.781000	0.31783	0.923000	0.55619	0.771000	0.26633	0.301000	0.22738	0.533000	0.62120	CAG		PASS	0.612	URGCP-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000338995.1	NM_001077664		37	61	37	61	---	---	---	---
FIGNL1	63979	broad.mit.edu	37	7	50514445	50514445	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2766-01A-01D-1522-08	TCGA-66-2766-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	452b75d0-1818-46aa-8804-9cfc0bd66449	81a4d615-e95e-4c17-87f7-c06d8dd4975a	g.chr7:50514445G>T	ENST00000419119.1	-	2	2094	c.541C>A	c.(541-543)Cgt>Agt	p.R181S	FIGNL1_ENST00000433017.1_Missense_Mutation_p.R181S|FIGNL1_ENST00000356889.4_Missense_Mutation_p.R181S|FIGNL1_ENST00000395556.2_Missense_Mutation_p.R181S			Q6PIW4	FIGL1_HUMAN	fidgetin-like 1	181					ATP metabolic process (GO:0046034)|cellular response to ionizing radiation (GO:0071479)|negative regulation of apoptotic process (GO:0043066)|negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)|osteoblast differentiation (GO:0001649)|osteoblast proliferation (GO:0033687)|regulation of cell cycle (GO:0051726)|regulation of double-strand break repair via homologous recombination (GO:0010569)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nuclear chromosome (GO:0000228)|nucleus (GO:0005634)	ATP binding (GO:0005524)|hydrolase activity (GO:0016787)|magnesium ion binding (GO:0000287)	p.R181S(1)		endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|ovary(3)|prostate(3)|upper_aerodigestive_tract(1)	29	Glioma(55;0.08)|all_neural(89;0.245)	Acute lymphoblastic leukemia(4;3.73e-08)|all_hematologic(4;7.51e-06)				AGTTTCAAACGATTGCTCTCC	0.468																																						uc003tpc.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)	3						c.(541-543)CGT>AGT		fidgetin-like 1							143.0	143.0	143.0					7																	50514445		2203	4300	6503	SO:0001583	missense	63979				ATP metabolic process|negative regulation of apoptosis|osteoblast differentiation|osteoblast proliferation|regulation of cell cycle	cytoplasm|nucleus	ATP binding|magnesium ion binding|nucleoside-triphosphatase activity	g.chr7:50514445G>T	AK023142	CCDS5510.1	7p12.2	2010-04-21			ENSG00000132436	ENSG00000132436		"""ATPases / AAA-type"""	13286	protein-coding gene	gene with protein product		615383					Standard	XM_005271783		Approved		uc003tpc.3	Q6PIW4	OTTHUMG00000022866	ENST00000419119.1:c.541C>A	7.37:g.50514445G>T	ENSP00000410811:p.Arg181Ser					FIGNL1_uc003tpb.2_Missense_Mutation_p.R70S|FIGNL1_uc003tpd.2_Missense_Mutation_p.R181S|FIGNL1_uc003tpe.2_Missense_Mutation_p.R181S|FIGNL1_uc010kyy.2_Missense_Mutation_p.R181S	p.R181S	NM_001042762	NP_001036227	Q6PIW4	FIGL1_HUMAN			4	918	-	Glioma(55;0.08)|all_neural(89;0.245)	Acute lymphoblastic leukemia(4;3.73e-08)|all_hematologic(4;7.51e-06)	181					D3DVM6|Q86V18|Q8ND59|Q9H8P1|Q9H917	Missense_Mutation	SNP	ENST00000419119.1	37	c.541C>A	CCDS5510.1	.	.	.	.	.	.	.	.	.	.	G	0.005	-2.124817	0.00342	.	.	ENSG00000132436	ENST00000356889;ENST00000395556;ENST00000433017;ENST00000419119	D;D;D;D	0.91843	-2.92;-2.92;-2.92;-2.92	5.49	0.932	0.19466	.	1.732920	0.03160	N	0.169198	T	0.78929	0.4361	N	0.08118	0	0.09310	N	0.999999	B	0.02656	0.0	B	0.01281	0.0	T	0.71533	-0.4564	10	0.05436	T	0.98	0.591	1.3847	0.02237	0.2504:0.2713:0.3404:0.1379	.	181	Q6PIW4	FIGL1_HUMAN	S	181	ENSP00000349356:R181S;ENSP00000378924:R181S;ENSP00000399997:R181S;ENSP00000410811:R181S	ENSP00000349356:R181S	R	-	1	0	FIGNL1	50481939	0.000000	0.05858	0.000000	0.03702	0.072000	0.16883	0.156000	0.16382	0.187000	0.20147	0.563000	0.77884	CGT		PASS	0.468	FIGNL1-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342579.1	NM_001042762		70	158	70	158	---	---	---	---
ZNF804B	219578	broad.mit.edu	37	7	88965897	88965897	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2766-01A-01D-1522-08	TCGA-66-2766-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	452b75d0-1818-46aa-8804-9cfc0bd66449	81a4d615-e95e-4c17-87f7-c06d8dd4975a	g.chr7:88965897C>T	ENST00000333190.4	+	4	4210	c.3601C>T	c.(3601-3603)Cac>Tac	p.H1201Y		NM_181646.2	NP_857597.1	A4D1E1	Z804B_HUMAN	zinc finger protein 804B	1201							metal ion binding (GO:0046872)	p.H1201Y(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)			AGTTCCAGTTCACCAGCACAC	0.502										HNSCC(36;0.09)																												uc011khi.1																			1	Substitution - Missense(1)		lung(1)	ovary(5)|skin(3)|pancreas(2)|upper_aerodigestive_tract(1)	11						c.(3601-3603)CAC>TAC		zinc finger protein 804B							166.0	135.0	146.0					7																	88965897		2203	4300	6503	SO:0001583	missense	219578					intracellular	zinc ion binding	g.chr7:88965897C>T	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.3601C>T	7.37:g.88965897C>T	ENSP00000329638:p.His1201Tyr	HNSCC(36;0.09)					p.H1201Y	NM_181646	NP_857597	A4D1E1	Z804B_HUMAN	STAD - Stomach adenocarcinoma(171;0.0513)		4	4139	+	all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151)		1201					B2RTV2|Q7Z714|Q96MN7	Missense_Mutation	SNP	ENST00000333190.4	37	c.3601C>T	CCDS5613.1	.	.	.	.	.	.	.	.	.	.	C	18.88	3.717355	0.68844	.	.	ENSG00000182348	ENST00000333190	T	0.05513	3.43	4.98	4.98	0.66077	.	0.088303	0.49916	D	0.000130	T	0.15089	0.0364	L	0.60455	1.87	0.42943	D	0.994357	D	0.61080	0.989	P	0.50314	0.637	T	0.00402	-1.1762	10	0.54805	T	0.06	-4.9173	18.8132	0.92065	0.0:1.0:0.0:0.0	.	1201	A4D1E1	Z804B_HUMAN	Y	1201	ENSP00000329638:H1201Y	ENSP00000329638:H1201Y	H	+	1	0	ZNF804B	88803833	1.000000	0.71417	0.957000	0.39632	0.427000	0.31564	6.943000	0.75934	2.736000	0.93811	0.655000	0.94253	CAC		PASS	0.502	ZNF804B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253683.2	NM_181646		52	211	52	211	---	---	---	---
ZNF804B	219578	broad.mit.edu	37	7	88966053	88966053	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2766-01A-01D-1522-08	TCGA-66-2766-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	452b75d0-1818-46aa-8804-9cfc0bd66449	81a4d615-e95e-4c17-87f7-c06d8dd4975a	g.chr7:88966053C>G	ENST00000333190.4	+	4	4366	c.3757C>G	c.(3757-3759)Cca>Gca	p.P1253A		NM_181646.2	NP_857597.1	A4D1E1	Z804B_HUMAN	zinc finger protein 804B	1253							metal ion binding (GO:0046872)	p.P1253A(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)			GACTCTGACTCCAACCATTAT	0.468										HNSCC(36;0.09)																												uc011khi.1																			1	Substitution - Missense(1)		lung(1)	ovary(5)|skin(3)|pancreas(2)|upper_aerodigestive_tract(1)	11						c.(3757-3759)CCA>GCA		zinc finger protein 804B							222.0	185.0	197.0					7																	88966053		2203	4300	6503	SO:0001583	missense	219578					intracellular	zinc ion binding	g.chr7:88966053C>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.3757C>G	7.37:g.88966053C>G	ENSP00000329638:p.Pro1253Ala	HNSCC(36;0.09)					p.P1253A	NM_181646	NP_857597	A4D1E1	Z804B_HUMAN	STAD - Stomach adenocarcinoma(171;0.0513)		4	4295	+	all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151)		1253					B2RTV2|Q7Z714|Q96MN7	Missense_Mutation	SNP	ENST00000333190.4	37	c.3757C>G	CCDS5613.1	.	.	.	.	.	.	.	.	.	.	C	14.90	2.674174	0.47781	.	.	ENSG00000182348	ENST00000333190	T	0.08282	3.11	5.16	3.28	0.37604	.	0.320597	0.27245	N	0.020249	T	0.20088	0.0483	L	0.60455	1.87	0.32374	N	0.555471	D	0.76494	0.999	D	0.63113	0.911	T	0.11397	-1.0589	10	0.87932	D	0	-9.0635	10.6315	0.45538	0.0:0.7953:0.1323:0.0723	.	1253	A4D1E1	Z804B_HUMAN	A	1253	ENSP00000329638:P1253A	ENSP00000329638:P1253A	P	+	1	0	ZNF804B	88803989	0.742000	0.28228	0.840000	0.33206	0.557000	0.35523	3.043000	0.49823	1.398000	0.46701	0.561000	0.74099	CCA		PASS	0.468	ZNF804B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253683.2	NM_181646		80	301	80	301	---	---	---	---
GNGT1	2792	broad.mit.edu	37	7	93536070	93536070	+	Silent	SNP	C	C	T			TCGA-66-2766-01A-01D-1522-08	TCGA-66-2766-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	452b75d0-1818-46aa-8804-9cfc0bd66449	81a4d615-e95e-4c17-87f7-c06d8dd4975a	g.chr7:93536070C>T	ENST00000248572.5	+	2	160	c.12C>T	c.(10-12)atC>atT	p.I4I	GNGT1_ENST00000430875.1_Silent_p.I4I|GNGT1_ENST00000429473.1_Silent_p.I4I|GNGT1_ENST00000455502.1_Silent_p.I4I|GNGT1_ENST00000428834.1_Silent_p.I4I	NM_021955.3	NP_068774.1	P63211	GBG1_HUMAN	guanine nucleotide binding protein (G protein), gamma transducing activity polypeptide 1	4					cardiac muscle cell apoptotic process (GO:0010659)|cellular response to hypoxia (GO:0071456)|eye photoreceptor cell development (GO:0042462)|GTP catabolic process (GO:0006184)|phototransduction, visible light (GO:0007603)|protein localization (GO:0008104)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|rhodopsin mediated signaling pathway (GO:0016056)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)	heterotrimeric G-protein complex (GO:0005834)|photoreceptor disc membrane (GO:0097381)|photoreceptor inner segment (GO:0001917)|plasma membrane (GO:0005886)	GTPase activity (GO:0003924)|signal transducer activity (GO:0004871)	p.I4I(1)		endometrium(1)|large_intestine(1)|lung(3)|prostate(1)	6	all_cancers(62;2.39e-10)|all_epithelial(64;1.54e-09)|Lung NSC(181;0.218)		STAD - Stomach adenocarcinoma(171;0.000967)			TGCCAGTAATCAATATTGAGG	0.408																																						uc003unc.1																			1	Substitution - coding silent(1)		lung(1)		0						c.(10-12)ATC>ATT		guanine nucleotide binding protein (G protein),							119.0	116.0	117.0					7																	93536070		2203	4300	6503	SO:0001819	synonymous_variant	2792				G-protein coupled receptor protein signaling pathway|synaptic transmission	heterotrimeric G-protein complex	GTPase activity|signal transducer activity	g.chr7:93536070C>T		CCDS5633.1	7q21.3	2008-07-18			ENSG00000127928	ENSG00000127928			4411	protein-coding gene	gene with protein product		189970				8661128	Standard	NM_021955		Approved	GNG1	uc003unc.1	P63211	OTTHUMG00000022908	ENST00000248572.5:c.12C>T	7.37:g.93536070C>T						GNGT1_uc003umx.1_RNA	p.I4I	NM_021955	NP_068774	P63211	GBG1_HUMAN	STAD - Stomach adenocarcinoma(171;0.000967)		2	160	+	all_cancers(62;2.39e-10)|all_epithelial(64;1.54e-09)|Lung NSC(181;0.218)		4					A4D1H2|O43835|Q08447|Q16026|Q6LCP6	Silent	SNP	ENST00000248572.5	37	c.12C>T	CCDS5633.1																																																																																				PASS	0.408	GNGT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254718.2	NM_021955		39	155	39	155	---	---	---	---
GPC2	221914	broad.mit.edu	37	7	99774750	99774750	+	Nonsense_Mutation	SNP	C	C	A			TCGA-66-2766-01A-01D-1522-08	TCGA-66-2766-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	452b75d0-1818-46aa-8804-9cfc0bd66449	81a4d615-e95e-4c17-87f7-c06d8dd4975a	g.chr7:99774750C>A	ENST00000292377.2	-	1	240	c.73G>T	c.(73-75)Gag>Tag	p.E25*	STAG3_ENST00000317296.5_5'Flank|STAG3_ENST00000394018.2_5'Flank|GPC2_ENST00000471050.1_5'Flank|STAG3_ENST00000426455.1_5'Flank	NM_152742.1	NP_689955.1	Q8N158	GPC2_HUMAN	glypican 2	25					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|neuron differentiation (GO:0030182)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|smoothened signaling pathway (GO:0007224)	anchored component of membrane (GO:0031225)|endoplasmic reticulum (GO:0005783)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)		p.E25*(1)		NS(1)|breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|pancreas(1)|skin(3)	18	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					ACCTTTGCCTCGCTCCCGGGT	0.642																																						uc003utv.2																			1	Substitution - Nonsense(1)		lung(1)	breast(1)|pancreas(1)	2						c.(73-75)GAG>TAG		glypican 2 precursor							23.0	27.0	26.0					7																	99774750		2202	4300	6502	SO:0001587	stop_gained	221914					anchored to membrane|endoplasmic reticulum|extracellular space|plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding	g.chr7:99774750C>A	BX375153	CCDS5689.1	7q22.1	2007-02-16	2007-02-15		ENSG00000213420	ENSG00000213420		"""Proteoglycans / Cell Surface : Glypicans"""	4450	protein-coding gene	gene with protein product	"""glypican proteoglycan 2, cerebroglycan proteoglycan"""		"""glypican 2 (cerebroglycan)"""			8294498	Standard	NM_152742		Approved	cerebroglycan, FLJ38962, DKFZp547M109	uc003utv.3	Q8N158	OTTHUMG00000154894	ENST00000292377.2:c.73G>T	7.37:g.99774750C>A	ENSP00000292377:p.Glu25*					GPC2_uc010lgr.2_RNA|GPC2_uc003utw.1_Nonsense_Mutation_p.E25*|STAG3_uc010lgs.1_5'Flank|STAG3_uc003utx.1_5'Flank|STAG3_uc011kjk.1_5'Flank	p.E25*	NM_152742	NP_689955	Q8N158	GPC2_HUMAN			1	241	-	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)		25					A4D2A7	Nonsense_Mutation	SNP	ENST00000292377.2	37	c.73G>T	CCDS5689.1	.	.	.	.	.	.	.	.	.	.	C	35	5.450275	0.96205	.	.	ENSG00000213420	ENST00000292377	.	.	.	4.72	4.72	0.59763	.	0.488362	0.18367	N	0.143400	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.16896	T	0.51	-7.0628	13.0338	0.58859	0.0:1.0:0.0:0.0	.	.	.	.	X	25	.	ENSP00000292377:E25X	E	-	1	0	GPC2	99612686	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	1.783000	0.38664	2.459000	0.83118	0.472000	0.43445	GAG		PASS	0.642	GPC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337556.1	NM_152742		8	41	8	41	---	---	---	---
PILRA	29992	broad.mit.edu	37	7	99971996	99971996	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2766-01A-01D-1522-08	TCGA-66-2766-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	452b75d0-1818-46aa-8804-9cfc0bd66449	81a4d615-e95e-4c17-87f7-c06d8dd4975a	g.chr7:99971996C>T	ENST00000198536.2	+	2	606	c.394C>T	c.(394-396)Cgg>Tgg	p.R132W	PILRA_ENST00000474013.1_3'UTR|PILRA_ENST00000394000.2_Missense_Mutation_p.R132W|PILRA_ENST00000453419.1_Missense_Mutation_p.R132W|PILRA_ENST00000350573.2_Missense_Mutation_p.R132W	NM_013439.2	NP_038467.2	Q9UKJ1	PILRA_HUMAN	paired immunoglobin-like type 2 receptor alpha	132	Ig-like V-type.				signal transduction (GO:0007165)|viral process (GO:0016032)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.R132W(1)		endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|pancreas(1)|skin(1)|urinary_tract(1)	15	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					GCTGGACACACGGAGCTCAGG	0.602																																						uc003uuo.1																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(394-396)CGG>TGG		paired immunoglobulin-like type 2 receptor alpha							99.0	98.0	98.0					7																	99971996		2203	4300	6503	SO:0001583	missense	29992				interspecies interaction between organisms	extracellular region|integral to membrane|plasma membrane	protein binding|receptor activity	g.chr7:99971996C>T	AF161080	CCDS5691.1, CCDS5692.1, CCDS47660.1	7q22.1	2013-01-11			ENSG00000085514	ENSG00000085514		"""Immunoglobulin superfamily / V-set domain containing"""	20396	protein-coding gene	gene with protein product		605341				10660620	Standard	NM_178272		Approved	FDF03	uc003uuo.1	Q9UKJ1	OTTHUMG00000155248	ENST00000198536.2:c.394C>T	7.37:g.99971996C>T	ENSP00000198536:p.Arg132Trp					PILRA_uc011kjn.1_Missense_Mutation_p.R132W|PILRA_uc011kjo.1_Missense_Mutation_p.R132W|PILRA_uc003uup.1_Missense_Mutation_p.R132W|PILRA_uc003uuq.1_Missense_Mutation_p.R132W	p.R132W	NM_013439	NP_038467	Q9UKJ1	PILRA_HUMAN			2	606	+	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)		132			Extracellular (Potential).|Ig-like V-type.		Q8NHI1	Missense_Mutation	SNP	ENST00000198536.2	37	c.394C>T	CCDS5691.1	.	.	.	.	.	.	.	.	.	.	C	13.94	2.388142	0.42308	.	.	ENSG00000085514	ENST00000432297;ENST00000198536;ENST00000453419;ENST00000394000;ENST00000350573	T;T;T;T;T	0.23147	1.92;1.92;1.92;1.92;1.92	2.87	-1.51	0.08664	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	3.278090	0.00945	N	0.002889	T	0.24005	0.0581	N	0.14661	0.345	0.09310	N	1	D;D;D;D;D	0.89917	1.0;0.999;0.999;0.998;0.99	P;P;P;P;P	0.57244	0.816;0.816;0.72;0.635;0.469	T	0.08186	-1.0734	9	.	.	.	.	2.1026	0.03683	0.1879:0.3218:0.3689:0.1215	.	132;132;132;132;132	C9JJ79;C9JGG1;Q9UKJ1-4;Q9UKJ1-3;Q9UKJ1	.;.;.;.;PILRA_HUMAN	W	132	ENSP00000415111:R132W;ENSP00000198536:R132W;ENSP00000390026:R132W;ENSP00000377569:R132W;ENSP00000340109:R132W	.	R	+	1	2	PILRA	99809932	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-1.468000	0.02350	-0.350000	0.08262	-0.802000	0.03209	CGG		PASS	0.602	PILRA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339016.1	NM_013439		8	267	8	267	---	---	---	---
CUX1	1523	broad.mit.edu	37	7	101918593	101918593	+	Missense_Mutation	SNP	G	G	C			TCGA-66-2766-01A-01D-1522-08	TCGA-66-2766-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	452b75d0-1818-46aa-8804-9cfc0bd66449	81a4d615-e95e-4c17-87f7-c06d8dd4975a	g.chr7:101918593G>C	ENST00000437600.4	+	17	1872	c.1520G>C	c.(1519-1521)aGg>aCg	p.R507T	CUX1_ENST00000547394.2_Missense_Mutation_p.R493T|CUX1_ENST00000425244.2_Missense_Mutation_p.R463T|CUX1_ENST00000393824.3_Missense_Mutation_p.R470T|CUX1_ENST00000292538.4_Missense_Mutation_p.R509T|CUX1_ENST00000560541.1_3'UTR	NM_181500.2	NP_852477.1	P39880	CUX1_HUMAN	cut-like homeobox 1	0					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.R509T(1)		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						TCCAGCCAGAGGGAGCGCTTC	0.617																																						uc003uyt.2																			1	Substitution - Missense(1)		lung(1)	ovary(5)|pancreas(1)|central_nervous_system(1)|skin(1)	8						c.(1525-1527)AGG>ACG		cut-like homeobox 1 isoform b							95.0	88.0	90.0					7																	101918593		2203	4300	6503	SO:0001583	missense	1523				negative regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr7:101918593G>C	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	ENST00000437600.4:c.1520G>C	7.37:g.101918593G>C	ENSP00000414091:p.Arg507Thr					CUX1_uc011kkn.1_Missense_Mutation_p.R470T|CUX1_uc003uyw.2_Missense_Mutation_p.R463T|CUX1_uc003uyv.2_Missense_Mutation_p.R493T|CUX1_uc003uyu.2_Missense_Mutation_p.R507T|CUX1_uc003uyz.2_RNA	p.R509T	NM_001913	NP_001904	P39880	CUX1_HUMAN			17	1545	+			Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					B3KV79|J3KQV9|Q6NYH4|Q75LE5|Q75MT2|Q75MT3|Q86UJ7|Q9UEV5	Missense_Mutation	SNP	ENST00000437600.4	37	c.1526G>C	CCDS47672.1	.	.	.	.	.	.	.	.	.	.	G	24.3	4.514260	0.85389	.	.	ENSG00000257923	ENST00000292538;ENST00000547394;ENST00000425244;ENST00000437600	T;T;T;T	0.77877	-1.13;-1.13;-1.13;-1.13	3.78	3.78	0.43462	CASP, C-terminal (1);	.	.	.	.	D	0.90345	0.6979	M	0.92026	3.265	0.29674	N	0.842252	D;D;D;D;D	0.89917	1.0;0.991;1.0;1.0;1.0	D;D;D;D;D	0.97110	0.999;0.991;1.0;0.996;1.0	D	0.87308	0.2310	9	0.87932	D	0	.	16.027	0.80551	0.0:0.0:1.0:0.0	.	470;463;493;507;509	B4DZZ2;B3KV79;G3V1Z6;Q13948-2;Q13948	.;.;.;.;CASP_HUMAN	T	509;493;463;507	ENSP00000292538:R509T;ENSP00000449371:R493T;ENSP00000409745:R463T;ENSP00000414091:R507T	ENSP00000292538:R509T	R	+	2	0	CUX1	101705313	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.233000	0.95337	1.841000	0.53522	0.561000	0.74099	AGG		PASS	0.617	CUX1-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000347534.3	NM_001913		51	102	51	102	---	---	---	---
GRM8	2918	broad.mit.edu	37	7	126173012	126173012	+	Silent	SNP	T	T	A			TCGA-66-2766-01A-01D-1522-08	TCGA-66-2766-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	452b75d0-1818-46aa-8804-9cfc0bd66449	81a4d615-e95e-4c17-87f7-c06d8dd4975a	g.chr7:126173012T>A	ENST00000339582.2	-	9	3232	c.2424A>T	c.(2422-2424)gcA>gcT	p.A808A	GRM8_ENST00000444921.2_Silent_p.A808A|GRM8_ENST00000480995.1_5'Flank|GRM8_ENST00000358373.3_Silent_p.A808A			O00222	GRM8_HUMAN	glutamate receptor, metabotropic 8	808					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.A808A(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)				TTACCTTTTCTGCTGACTGGG	0.368										HNSCC(24;0.065)																												uc003vlr.2																			1	Substitution - coding silent(1)	p.A808E(1)	lung(1)	lung(15)|ovary(5)|pancreas(1)|breast(1)|skin(1)	23						c.(2422-2424)GCA>GCT		glutamate receptor, metabotropic 8 isoform a	L-Glutamic Acid(DB00142)						77.0	71.0	73.0					7																	126173012		2203	4300	6503	SO:0001819	synonymous_variant	2918				negative regulation of cAMP biosynthetic process|sensory perception of smell|visual perception	integral to plasma membrane		g.chr7:126173012T>A		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.2424A>T	7.37:g.126173012T>A		HNSCC(24;0.065)				GRM8_uc003vls.2_RNA|GRM8_uc011kof.1_RNA|GRM8_uc003vlt.2_Silent_p.A808A|GRM8_uc010lkz.1_RNA	p.A808A	NM_000845	NP_000836	O00222	GRM8_HUMAN			8	2735	-		Prostate(267;0.186)	808			Extracellular (Potential).		A4D0Y3|B0FZ74|B0M0L0|O15493|O95945|O95946|Q3MIV9|Q52M02|Q6J165	Silent	SNP	ENST00000339582.2	37	c.2424A>T	CCDS5794.1																																																																																				PASS	0.368	GRM8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000059209.4			45	82	45	82	---	---	---	---
GRM8	2918	broad.mit.edu	37	7	126173262	126173262	+	Missense_Mutation	SNP	T	T	C			TCGA-66-2766-01A-01D-1522-08	TCGA-66-2766-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	452b75d0-1818-46aa-8804-9cfc0bd66449	81a4d615-e95e-4c17-87f7-c06d8dd4975a	g.chr7:126173262T>C	ENST00000339582.2	-	9	2982	c.2174A>G	c.(2173-2175)tAt>tGt	p.Y725C	GRM8_ENST00000444921.2_Missense_Mutation_p.Y725C|GRM8_ENST00000480995.1_5'UTR|GRM8_ENST00000358373.3_Missense_Mutation_p.Y725C			O00222	GRM8_HUMAN	glutamate receptor, metabotropic 8	725					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.Y725C(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)				CTGCTCTCCATAGTCAATGAT	0.507										HNSCC(24;0.065)																												uc003vlr.2																			1	Substitution - Missense(1)		lung(1)	lung(15)|ovary(5)|pancreas(1)|breast(1)|skin(1)	23						c.(2173-2175)TAT>TGT		glutamate receptor, metabotropic 8 isoform a	L-Glutamic Acid(DB00142)						84.0	70.0	74.0					7																	126173262		2203	4300	6503	SO:0001583	missense	2918				negative regulation of cAMP biosynthetic process|sensory perception of smell|visual perception	integral to plasma membrane		g.chr7:126173262T>C		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.2174A>G	7.37:g.126173262T>C	ENSP00000344173:p.Tyr725Cys	HNSCC(24;0.065)				GRM8_uc003vls.2_RNA|GRM8_uc011kof.1_RNA|GRM8_uc003vlt.2_Missense_Mutation_p.Y725C|GRM8_uc010lkz.1_RNA	p.Y725C	NM_000845	NP_000836	O00222	GRM8_HUMAN			8	2485	-		Prostate(267;0.186)	725			Extracellular (Potential).		A4D0Y3|B0FZ74|B0M0L0|O15493|O95945|O95946|Q3MIV9|Q52M02|Q6J165	Missense_Mutation	SNP	ENST00000339582.2	37	c.2174A>G	CCDS5794.1	.	.	.	.	.	.	.	.	.	.	T	18.32	3.599035	0.66332	.	.	ENSG00000179603	ENST00000339582;ENST00000444921;ENST00000358373	D;D;D	0.89939	-2.52;-2.52;-2.59	5.61	5.61	0.85477	GPCR, family 3, C-terminal (2);	0.057425	0.64402	D	0.000001	D	0.94584	0.8255	M	0.87547	2.89	0.80722	D	1	D;D	0.76494	0.999;0.996	D;D	0.64687	0.912;0.928	D	0.95385	0.8476	10	0.87932	D	0	.	14.9887	0.71368	0.0:0.0:0.0:1.0	.	725;725	O00222-2;O00222	.;GRM8_HUMAN	C	725	ENSP00000344173:Y725C;ENSP00000409790:Y725C;ENSP00000351142:Y725C	ENSP00000344173:Y725C	Y	-	2	0	GRM8	125960498	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	6.194000	0.72082	2.147000	0.66899	0.533000	0.62120	TAT		PASS	0.507	GRM8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000059209.4			33	45	33	45	---	---	---	---
CCDC136	64753	broad.mit.edu	37	7	128446913	128446913	+	Splice_Site	SNP	G	G	T			TCGA-66-2766-01A-01D-1522-08	TCGA-66-2766-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	452b75d0-1818-46aa-8804-9cfc0bd66449	81a4d615-e95e-4c17-87f7-c06d8dd4975a	g.chr7:128446913G>T	ENST00000297788.4	+	9	1786		c.e9+1		CCDC136_ENST00000464832.1_Intron|CCDC136_ENST00000487361.1_Splice_Site|CCDC136_ENST00000378685.4_Intron	NM_022742.4	NP_073579	Q96JN2	CC136_HUMAN	coiled-coil domain containing 136							integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)		p.?(3)		breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(11)|ovary(3)	24						CAATGAGAAGGTAAAAGAAGC	0.572																																						uc003vnv.1																			3	Unknown(3)		lung(3)	ovary(2)	2						c.e9+1		coiled-coil domain containing 136							26.0	27.0	26.0					7																	128446913		2053	4186	6239	SO:0001630	splice_region_variant	64753					integral to membrane	protein binding	g.chr7:128446913G>T		CCDS47704.1, CCDS56510.1	7q33	2007-08-01			ENSG00000128596	ENSG00000128596			22225	protein-coding gene	gene with protein product		611902				15112360	Standard	NM_022742		Approved	KIAA1793, NAG6, DKFZP434G156	uc003vnv.2	Q96JN2	OTTHUMG00000158310	ENST00000297788.4:c.1419+1G>T	7.37:g.128446913G>T						CCDC136_uc003vnu.1_Intron|CCDC136_uc003vnw.1_Splice_Site_p.K420_splice|CCDC136_uc003vnx.1_Splice_Site_p.K289_splice|CCDC136_uc010llq.1_Splice_Site|CCDC136_uc003vny.1_Splice_Site_p.K83_splice	p.K473_splice	NM_022742	NP_073579	Q96JN2	CC136_HUMAN			9	1786	+								A4D1K1|A7MCY7|A8MYA7|Q6ZVK7|Q9H8M3|Q9UFE1	Splice_Site	SNP	ENST00000297788.4	37	c.1419_splice	CCDS47704.1	.	.	.	.	.	.	.	.	.	.	G	9.603	1.129248	0.21041	.	.	ENSG00000128596	ENST00000487361;ENST00000297788;ENST00000397697;ENST00000320524;ENST00000494552;ENST00000464672	.	.	.	5.4	5.4	0.78164	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.6813	0.69020	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	CCDC136	128234149	1.000000	0.71417	1.000000	0.80357	0.156000	0.22039	3.291000	0.51764	2.533000	0.85409	0.561000	0.74099	.		PASS	0.572	CCDC136-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000350641.1	NM_022742	Intron	11	26	11	26	---	---	---	---
CPA4	51200	broad.mit.edu	37	7	129939246	129939246	+	Splice_Site	SNP	T	T	C			TCGA-66-2766-01A-01D-1522-08	TCGA-66-2766-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	452b75d0-1818-46aa-8804-9cfc0bd66449	81a4d615-e95e-4c17-87f7-c06d8dd4975a	g.chr7:129939246T>C	ENST00000222482.4	+	3	313		c.e3+2		CPA4_ENST00000445470.2_Splice_Site|CPA4_ENST00000493259.1_Intron	NM_016352.3	NP_057436.2	Q9UI42	CBPA4_HUMAN	carboxypeptidase A4						histone acetylation (GO:0016573)	extracellular region (GO:0005576)	metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)	p.?(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	21	Melanoma(18;0.0435)					GACCTGCAGGTAGGTAGACTA	0.512																																						uc003vpr.2																			1	Unknown(1)		lung(1)	ovary(1)	1						c.e3+2		carboxypeptidase A4 preproprotein							83.0	70.0	74.0					7																	129939246		2203	4300	6503	SO:0001630	splice_region_variant	51200				histone acetylation|proteolysis	extracellular region	metallocarboxypeptidase activity|zinc ion binding	g.chr7:129939246T>C	AF095719	CCDS5818.1, CCDS55163.1	7q32	2008-07-18			ENSG00000128510	ENSG00000128510			15740	protein-coding gene	gene with protein product	"""carboxypeptidase A3"""	607635				10383164, 10860668	Standard	NM_016352		Approved	CPA3	uc003vpr.3	Q9UI42	OTTHUMG00000157825	ENST00000222482.4:c.285+2T>C	7.37:g.129939246T>C						CPA4_uc011kpd.1_Splice_Site_p.Q95_splice|CPA4_uc011kpe.1_Intron	p.Q95_splice	NM_016352	NP_057436	Q9UI42	CBPA4_HUMAN			3	332	+	Melanoma(18;0.0435)							B7Z576|Q86UY9	Splice_Site	SNP	ENST00000222482.4	37	c.285_splice	CCDS5818.1	.	.	.	.	.	.	.	.	.	.	T	12.25	1.883087	0.33255	.	.	ENSG00000128510	ENST00000445470;ENST00000222482;ENST00000492072;ENST00000473956	.	.	.	6.0	6.0	0.97389	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.8965	0.58101	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	CPA4	129726482	1.000000	0.71417	0.958000	0.39756	0.181000	0.23173	5.241000	0.65384	2.297000	0.77311	0.533000	0.62120	.		PASS	0.512	CPA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349725.1	NM_016352	Intron	43	64	43	64	---	---	---	---
HIPK2	28996	broad.mit.edu	37	7	139299139	139299139	+	Missense_Mutation	SNP	G	G	A			TCGA-66-2766-01A-01D-1522-08	TCGA-66-2766-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	452b75d0-1818-46aa-8804-9cfc0bd66449	81a4d615-e95e-4c17-87f7-c06d8dd4975a	g.chr7:139299139G>A	ENST00000406875.3	-	8	1977	c.1883C>T	c.(1882-1884)gCt>gTt	p.A628V	HIPK2_ENST00000342645.6_Missense_Mutation_p.A628V|HIPK2_ENST00000428878.2_Missense_Mutation_p.A601V	NM_022740.4	NP_073577.3	Q9H2X6	HIPK2_HUMAN	homeodomain interacting protein kinase 2	628	Interaction with SKI and SMAD1.				adult walking behavior (GO:0007628)|anterior/posterior pattern specification (GO:0009952)|cellular response to hypoxia (GO:0071456)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic retina morphogenesis in camera-type eye (GO:0060059)|erythrocyte differentiation (GO:0030218)|eye development (GO:0001654)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|iris morphogenesis (GO:0061072)|lens induction in camera-type eye (GO:0060235)|modulation by virus of host morphology or physiology (GO:0019048)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron differentiation (GO:0030182)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|PML body organization (GO:0030578)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA binding (GO:0043388)|positive regulation of JNK cascade (GO:0046330)|positive regulation of protein binding (GO:0032092)|positive regulation of protein phosphorylation (GO:0001934)|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)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|protein phosphorylation (GO:0006468)|regulation of cell cycle (GO:0051726)|retina layer formation (GO:0010842)|SMAD protein signal transduction (GO:0060395)|smoothened signaling pathway (GO:0007224)|transforming growth factor beta receptor signaling pathway (GO:0007179)|voluntary musculoskeletal movement (GO:0050882)	cytoplasm (GO:0005737)|nuclear body (GO:0016604)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II transcription coactivator activity (GO:0001105)|SMAD binding (GO:0046332)|transcription corepressor activity (GO:0003714)|virion binding (GO:0046790)	p.A628V(2)		breast(4)|central_nervous_system(4)|endometrium(7)|kidney(2)|large_intestine(5)|lung(11)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Melanoma(164;0.205)					GGCCACTGCAGCCATGGATGC	0.597																																						uc003vvf.3																			2	Substitution - Missense(2)		lung(2)	ovary(3)|central_nervous_system(3)|skin(1)	7						c.(1882-1884)GCT>GTT		homeodomain interacting protein kinase 2 isoform							55.0	60.0	58.0					7																	139299139		1945	4163	6108	SO:0001583	missense	28996				apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|negative regulation of BMP signaling pathway|positive regulation of JNK cascade|positive regulation of transforming growth factor beta receptor signaling pathway|SMAD protein signal transduction|transcription, DNA-dependent|virus-host interaction	centrosome|nuclear membrane|PML body	ATP binding|protein serine/threonine kinase activity|SMAD binding|transcription corepressor activity|virion binding	g.chr7:139299139G>A	AF208291	CCDS75666.1, CCDS75667.1	7q32-q34	2004-01-29	2001-11-29		ENSG00000064393	ENSG00000064393			14402	protein-coding gene	gene with protein product		606868	"""homeodomain-interacting protein kinase 2"""			11120354	Standard	NM_001113239		Approved		uc003vvf.4	Q9H2X6	OTTHUMG00000157704	ENST00000406875.3:c.1883C>T	7.37:g.139299139G>A	ENSP00000385571:p.Ala628Val					HIPK2_uc003vvd.3_Missense_Mutation_p.A601V	p.A628V	NM_022740	NP_073577	Q9H2X6	HIPK2_HUMAN			8	2057	-	Melanoma(164;0.205)		628			Interaction with SKI and SMAD1.		Q75MR7|Q8WWI4|Q9H2Y1	Missense_Mutation	SNP	ENST00000406875.3	37	c.1883C>T		.	.	.	.	.	.	.	.	.	.	G	19.19	3.778747	0.70107	.	.	ENSG00000064393	ENST00000406875;ENST00000428878;ENST00000342645	T;T;T	0.52983	0.64;0.66;0.66	5.39	5.39	0.77823	.	.	.	.	.	T	0.45216	0.1331	.	.	.	0.58432	D	0.999996	P;B	0.40970	0.734;0.062	B;B	0.40165	0.321;0.075	T	0.27806	-1.0063	8	0.28530	T	0.3	.	19.5328	0.95235	0.0:0.0:1.0:0.0	.	628;601	Q9H2X6;Q9H2X6-3	HIPK2_HUMAN;.	V	628;601;628	ENSP00000385571:A628V;ENSP00000413724:A601V;ENSP00000343108:A628V	ENSP00000343108:A628V	A	-	2	0	HIPK2	138949679	1.000000	0.71417	0.985000	0.45067	0.998000	0.95712	9.375000	0.97178	2.682000	0.91365	0.563000	0.77884	GCT		PASS	0.597	HIPK2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000349430.3	NM_022740		21	20	21	20	---	---	---	---
SLC37A3	84255	broad.mit.edu	37	7	140035283	140035283	+	Missense_Mutation	SNP	T	T	C			TCGA-66-2766-01A-01D-1522-08	TCGA-66-2766-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	452b75d0-1818-46aa-8804-9cfc0bd66449	81a4d615-e95e-4c17-87f7-c06d8dd4975a	g.chr7:140035283T>C	ENST00000326232.9	-	15	1617	c.1414A>G	c.(1414-1416)Atc>Gtc	p.I472V	SLC37A3_ENST00000340308.3_Missense_Mutation_p.Y371C|SLC37A3_ENST00000447932.2_Missense_Mutation_p.I456V	NM_207113.1	NP_996996.1	Q8NCC5	SPX3_HUMAN	solute carrier family 37, member 3	472					carbohydrate transport (GO:0008643)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)	transporter activity (GO:0005215)	p.Y371C(1)|p.I472V(1)		endometrium(4)|kidney(1)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|stomach(3)	24	Melanoma(164;0.0142)					AATGGCGAGATAAACACAATT	0.388																																					Esophageal Squamous(133;211 1716 4665 11387 37873)	uc003vvo.2																			2	Substitution - Missense(2)		lung(2)	ovary(3)	3						c.(1414-1416)ATC>GTC		solute carrier family 37 (glycerol-3-phosphate							68.0	63.0	65.0					7																	140035283		2203	4300	6503	SO:0001583	missense	84255				carbohydrate transport|transmembrane transport	integral to membrane		g.chr7:140035283T>C	AK074823	CCDS5858.1, CCDS5859.1, CCDS75669.1	7q34	2013-07-17	2013-07-17		ENSG00000157800	ENSG00000157800		"""Solute carriers"""	20651	protein-coding gene	gene with protein product							Standard	NM_001287498		Approved	DKFZp761N0624	uc003vvo.3	Q8NCC5	OTTHUMG00000157343	ENST00000326232.9:c.1414A>G	7.37:g.140035283T>C	ENSP00000321498:p.Ile472Val					SLC37A3_uc003vvn.2_Missense_Mutation_p.I50V|SLC37A3_uc003vvp.2_Missense_Mutation_p.Y371C|SLC37A3_uc010lnh.2_Missense_Mutation_p.I456V	p.I472V	NM_207113	NP_996996	Q8NCC5	SPX3_HUMAN			15	1580	-	Melanoma(164;0.0142)		472			Helical; (Potential).		Q6PIU7|Q86SS4|Q9BQG7	Missense_Mutation	SNP	ENST00000326232.9	37	c.1414A>G	CCDS5859.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	10.09|10.09	1.254728|1.254728	0.22965|0.22965	.|.	.|.	ENSG00000157800|ENSG00000157800	ENST00000447932;ENST00000326232;ENST00000469636;ENST00000485734|ENST00000340308;ENST00000491357;ENST00000492027	T;T|T	0.57595|0.20598	0.39;0.39|2.06	5.18|5.18	3.99|3.99	0.46301|0.46301	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);|.	0.169821|.	0.51477|.	D|.	0.000094|.	T|T	0.29945|0.29945	0.0749|0.0749	L|L	0.47716|0.47716	1.5|1.5	0.80722|0.80722	D|D	1|1	P;B;B|D	0.36222|0.67145	0.544;0.403;0.225|0.996	B;B;B|P	0.39339|0.56216	0.297;0.257;0.114|0.794	T|T	0.01371|0.01371	-1.1372|-1.1372	10|9	0.66056|0.39692	D|T	0.02|0.17	-50.4075|-50.4075	10.8962|10.8962	0.47023|0.47023	0.0:0.0:0.1574:0.8426|0.0:0.0:0.1574:0.8426	.|.	456;472;84|371	Q8NCC5-2;Q8NCC5;B3KX37|Q8NCC5-3	.;SPX3_HUMAN;.|.	V|C	456;472;34;184|371;50;58	ENSP00000397481:I456V;ENSP00000321498:I472V|ENSP00000343358:Y371C	ENSP00000321498:I472V|ENSP00000343358:Y371C	I|Y	-|-	1|2	0|0	SLC37A3|SLC37A3	139681752|139681752	1.000000|1.000000	0.71417|0.71417	0.923000|0.923000	0.36655|0.36655	0.470000|0.470000	0.32858|0.32858	5.480000|5.480000	0.66820|0.66820	0.954000|0.954000	0.37851|0.37851	0.529000|0.529000	0.55759|0.55759	ATC|TAT		PASS	0.388	SLC37A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348492.1	NM_032295		70	127	70	127	---	---	---	---
TRPV5	56302	broad.mit.edu	37	7	142605794	142605794	+	Silent	SNP	C	C	T			TCGA-66-2766-01A-01D-1522-08	TCGA-66-2766-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	452b75d0-1818-46aa-8804-9cfc0bd66449	81a4d615-e95e-4c17-87f7-c06d8dd4975a	g.chr7:142605794C>T	ENST00000265310.1	-	15	2424	c.2076G>A	c.(2074-2076)gcG>gcA	p.A692A		NM_019841.4	NP_062815.2	Q9NQA5	TRPV5_HUMAN	transient receptor potential cation channel, subfamily V, member 5	692					calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|ion transmembrane transport (GO:0034220)|protein tetramerization (GO:0051262)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)	p.A692A(1)		NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(14)|lung(32)|ovary(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	67	Melanoma(164;0.059)					TGCTCTGGGACGCGGTCCGGG	0.587																																						uc003wby.1																			1	Substitution - coding silent(1)		lung(1)	ovary(3)|central_nervous_system(2)|skin(1)	6						c.(2074-2076)GCG>GCA		transient receptor potential cation channel,							85.0	79.0	81.0					7																	142605794		2203	4300	6503	SO:0001819	synonymous_variant	56302				protein tetramerization	apical plasma membrane|integral to plasma membrane	calcium channel activity	g.chr7:142605794C>T	AJ271207	CCDS5875.1	7q34	2013-01-10	2002-01-29	2002-02-01	ENSG00000127412	ENSG00000127412		"""Voltage-gated ion channels / Transient receptor potential cation channels"", ""Ankyrin repeat domain containing"""	3145	protein-coding gene	gene with protein product		606679	"""epithelial calcium channel 1"""	ECAC1		10944439, 10945469, 16382100	Standard	NM_019841		Approved	CaT2	uc003wby.1	Q9NQA5	OTTHUMG00000157157	ENST00000265310.1:c.2076G>A	7.37:g.142605794C>T							p.A692A	NM_019841	NP_062815	Q9NQA5	TRPV5_HUMAN			15	2340	-	Melanoma(164;0.059)		692			Cytoplasmic (Potential).		A4D2H7|E9PBZ6|Q8N4C1|Q8NDW5|Q8NDX7|Q8NDX8|Q96PM6	Silent	SNP	ENST00000265310.1	37	c.2076G>A	CCDS5875.1																																																																																				PASS	0.587	TRPV5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347660.1	NM_019841		69	107	69	107	---	---	---	---
OR2F2	135948	broad.mit.edu	37	7	143632691	143632692	+	Missense_Mutation	DNP	CC	CC	AT	rs371979913		TCGA-66-2766-01A-01D-1522-08	TCGA-66-2766-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	452b75d0-1818-46aa-8804-9cfc0bd66449	81a4d615-e95e-4c17-87f7-c06d8dd4975a	g.chr7:143632691_143632692CC>AT	ENST00000408955.2	+	1	433_434	c.366_367CC>AT	c.(364-369)cgCCat>cgATat	p.H123Y		NM_001004685.1	NP_001004685.1	O95006	OR2F2_HUMAN	olfactory receptor, family 2, subfamily F, 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.H123Y(2)|p.R122R(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)					CCTATGACCGCCATGTGGCTGT	0.554																																						uc011ktv.1																			3	Substitution - Missense(2)|Substitution - coding silent(1)		lung(3)	ovary(3)|skin(1)	4						c.(364-366)CGC>CGA|c.(367-369)CAT>TAT		olfactory receptor, family 2, subfamily F,																																				SO:0001583	missense	135948				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr7:143632691C>A|g.chr7:143632692C>T		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	Exception_encountered	7.37:g.143632691_143632692delinsAT	ENSP00000386222:p.His123Tyr						p.R122R|p.H123Y	NM_001004685	NP_001004685	O95006	OR2F2_HUMAN			1	366|367	+	Melanoma(164;0.0903)		122|123			Cytoplasmic (Potential).		A4D2G0|Q6IFP8	Silent|Missense_Mutation	SNP	ENST00000408955.2	37	c.366C>A|c.367C>T	CCDS43666.1																																																																																				PASS	0.554	OR2F2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349570.1			84|83	108|106	83	106	---	---	---	---
ZNF777	27153	broad.mit.edu	37	7	149130003	149130003	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2766-01A-01D-1522-08	TCGA-66-2766-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	452b75d0-1818-46aa-8804-9cfc0bd66449	81a4d615-e95e-4c17-87f7-c06d8dd4975a	g.chr7:149130003C>T	ENST00000247930.4	-	6	1683	c.1360G>A	c.(1360-1362)Gag>Aag	p.E454K		NM_015694.2	NP_056509.2	Q9ULD5	ZN777_HUMAN	zinc finger protein 777	454	Glu-rich.				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.E454K(1)		large_intestine(5)|lung(17)|ovary(1)|skin(2)|urinary_tract(1)	26	Melanoma(164;0.165)		OV - Ovarian serous cystadenocarcinoma(82;0.00358)			TCTTGTTCCTCTGTCTTGATC	0.567																																						uc003wfv.2																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(1360-1362)GAG>AAG		zinc finger protein 777							10.0	12.0	11.0					7																	149130003		2127	4236	6363	SO:0001583	missense	27153				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr7:149130003C>T	AB033111	CCDS43675.1	7q36.1	2013-01-08			ENSG00000196453	ENSG00000196453		"""Zinc fingers, C2H2-type"", ""-"""	22213	protein-coding gene	gene with protein product							Standard	NM_015694		Approved	KIAA1285	uc003wfv.3	Q9ULD5	OTTHUMG00000158967	ENST00000247930.4:c.1360G>A	7.37:g.149130003C>T	ENSP00000247930:p.Glu454Lys						p.E454K	NM_015694	NP_056509	Q9ULD5	ZN777_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00358)		6	1523	-	Melanoma(164;0.165)		454			Glu-rich.		Q8N2R2|Q8N659	Missense_Mutation	SNP	ENST00000247930.4	37	c.1360G>A	CCDS43675.1	.	.	.	.	.	.	.	.	.	.	C	13.95	2.388811	0.42308	.	.	ENSG00000196453	ENST00000247930;ENST00000314683	T	0.06849	3.25	4.76	4.76	0.60689	.	0.648592	0.13541	N	0.380165	T	0.12178	0.0296	N	0.19112	0.55	0.36743	D	0.882326	D	0.61697	0.99	P	0.56127	0.792	T	0.38351	-0.9665	10	0.19590	T	0.45	-10.9018	15.2712	0.73702	0.0:1.0:0.0:0.0	.	454	Q9ULD5-2	.	K	454;197	ENSP00000247930:E454K	ENSP00000247930:E454K	E	-	1	0	ZNF777	148760936	0.996000	0.38824	0.962000	0.40283	0.930000	0.56654	3.820000	0.55693	2.173000	0.68751	0.467000	0.42956	GAG		PASS	0.567	ZNF777-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352708.1	NM_015694		5	7	5	7	---	---	---	---
SSPO	23145	broad.mit.edu	37	7	149492326	149492326	+	RNA	SNP	C	C	T			TCGA-66-2766-01A-01D-1522-08	TCGA-66-2766-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	452b75d0-1818-46aa-8804-9cfc0bd66449	81a4d615-e95e-4c17-87f7-c06d8dd4975a	g.chr7:149492326C>T	ENST00000378016.2	+	0	6215							A2VEC9	SSPO_HUMAN	SCO-spondin						cell adhesion (GO:0007155)	extracellular space (GO:0005615)	peptidase inhibitor activity (GO:0030414)					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			CTGGGGCTGGCCGGACTGGCT	0.682																																						uc010lpk.2																			0					0						c.(6214-6216)GCC>GTC		SCO-spondin precursor							34.0	38.0	37.0					7																	149492326		1946	4136	6082			23145				cell adhesion	extracellular space	peptidase inhibitor activity	g.chr7:149492326C>T	AK093431		7q36.1	2013-08-07	2013-08-06		ENSG00000197558	ENSG00000197558			21998	protein-coding gene	gene with protein product	"""subcommissural organ spondin"", ""SCO protein, thrombospondin domain containing"""		"""SCO-spondin homolog (Bos taurus)"""			8743952, 11008217	Standard	NM_198455		Approved	SCO-spondin, KIAA0543, FLJ36112	uc010lpk.3	A2VEC9	OTTHUMG00000157884		7.37:g.149492326C>T							p.A2072V	NM_198455	NP_940857	A2VEC9	SSPO_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00625)		43	6215	+	Melanoma(164;0.165)|Ovarian(565;0.177)		2072			F5/8 type C.		Q76B61	Missense_Mutation	SNP	ENST00000378016.2	37	c.6215C>T																																																																																					PASS	0.682	SSPO-202	KNOWN	basic	processed_transcript	processed_transcript				4	95	4	95	---	---	---	---
AOC1	26	broad.mit.edu	37	7	150553564	150553564	+	Silent	SNP	G	G	T	rs565800850		TCGA-66-2766-01A-01D-1522-08	TCGA-66-2766-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	452b75d0-1818-46aa-8804-9cfc0bd66449	81a4d615-e95e-4c17-87f7-c06d8dd4975a	g.chr7:150553564G>T	ENST00000493429.1	+	4	590	c.6G>T	c.(4-6)ccG>ccT	p.P2P	AOC1_ENST00000467291.1_Silent_p.P2P|AOC1_ENST00000416793.2_Silent_p.P2P|AOC1_ENST00000360937.4_Silent_p.P2P			P19801	AOC1_HUMAN	amine oxidase, copper containing 1	2					amine metabolic process (GO:0009308)|cellular response to azide (GO:0097185)|cellular response to copper ion (GO:0071280)|cellular response to copper ion starvation (GO:0035874)|cellular response to heparin (GO:0071504)|cellular response to histamine (GO:0071420)|oxidation-reduction process (GO:0055114)|response to antibiotic (GO:0046677)|response to drug (GO:0042493)|sodium ion transmembrane transport (GO:0035725)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|peroxisome (GO:0005777)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	calcium ion binding (GO:0005509)|cation channel activity (GO:0005261)|copper ion binding (GO:0005507)|diamine oxidase activity (GO:0052597)|drug binding (GO:0008144)|heparin binding (GO:0008201)|histamine oxidase activity (GO:0052598)|methylputrescine oxidase activity (GO:0052599)|primary amine oxidase activity (GO:0008131)|propane-1,3-diamine oxidase activity (GO:0052600)|protein complex binding (GO:0032403)|protein homodimerization activity (GO:0042803)|quinone binding (GO:0048038)|receptor activity (GO:0004872)|sodium channel activity (GO:0005272)|zinc ion binding (GO:0008270)	p.P2P(1)								Amiloride(DB00594)	GAGAGATGCCGGCCCTGGGCT	0.607																																						uc003why.1																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|breast(2)|skin(2)	6						c.(4-6)CCG>CCT		amiloride binding protein 1 precursor	Amiloride(DB00594)|Spermine(DB00127)						28.0	30.0	29.0					7																	150553564		1933	4130	6063	SO:0001819	synonymous_variant	26				amine metabolic process	extracellular space|peroxisome	copper ion binding|diamine oxidase activity|heparin binding|histamine oxidase activity|methylputrescine oxidase activity|primary amine oxidase activity|propane-1,3-diamine oxidase activity|quinone binding	g.chr7:150553564G>T	AK092514	CCDS43679.1, CCDS64797.1	7q36.1	2013-06-19	2013-06-19	2013-06-19	ENSG00000002726	ENSG00000002726	1.4.3.22		80	protein-coding gene	gene with protein product	"""diamine oxidase"""	104610	"""amiloride binding protein 1 (amine oxidase (copper-containing))"""	ABP1		8182053	Standard	NM_001091		Approved	DAO	uc003wia.2	P19801	OTTHUMG00000158306	ENST00000493429.1:c.6G>T	7.37:g.150553564G>T						ABP1_uc003whz.1_Silent_p.P2P|ABP1_uc003wia.1_Silent_p.P2P	p.P2P	NM_001091	NP_001082	P19801	ABP1_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	3	4224	+	all_neural(206;0.219)		2					C9J690|Q16683|Q16684|Q56II4|Q6GU42	Silent	SNP	ENST00000493429.1	37	c.6G>T	CCDS43679.1																																																																																				PASS	0.607	AOC1-009	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350628.1	NM_001091		45	67	45	67	---	---	---	---
KMT2C	58508	broad.mit.edu	37	7	151945252	151945252	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2766-01A-01D-1522-08	TCGA-66-2766-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	452b75d0-1818-46aa-8804-9cfc0bd66449	81a4d615-e95e-4c17-87f7-c06d8dd4975a	g.chr7:151945252C>G	ENST00000262189.6	-	14	2485	c.2267G>C	c.(2266-2268)gGa>gCa	p.G756A	KMT2C_ENST00000355193.2_Missense_Mutation_p.G756A	NM_170606.2	NP_733751.2	Q8NEZ4	KMT2C_HUMAN	lysine (K)-specific methyltransferase 2C	756					histone H3-K4 methylation (GO:0051568)|intracellular signal transduction (GO:0035556)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)	p.G756A(2)									AGATTTGCCTCCTTGGTATGA	0.393																																						uc003wla.2										N							medulloblastoma		2	Substitution - Missense(2)		lung(2)	large_intestine(27)|pancreas(13)|ovary(9)|central_nervous_system(8)|breast(3)|upper_aerodigestive_tract(1)|urinary_tract(1)|skin(1)	63						c.(2266-2268)GGA>GCA		myeloid/lymphoid or mixed-lineage leukemia 3							108.0	100.0	103.0					7																	151945252		2203	4297	6500	SO:0001583	missense	58508				intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent		DNA binding|protein binding|zinc ion binding	g.chr7:151945252C>G	AF264750	CCDS5931.1	7q36	2013-05-09	2013-05-09	2013-05-09	ENSG00000055609	ENSG00000055609		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	13726	protein-coding gene	gene with protein product		606833	"""myeloid/lymphoid or mixed-lineage leukemia 3"""	MLL3		10819331	Standard	XM_005250026		Approved	KIAA1506, HALR		Q8NEZ4	OTTHUMG00000150553	ENST00000262189.6:c.2267G>C	7.37:g.151945252C>G	ENSP00000262189:p.Gly756Ala						p.G756A	NM_170606	NP_733751	Q8NEZ4	MLL3_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00715)	UCEC - Uterine corpus endometrioid carcinoma (81;0.0597)|BRCA - Breast invasive adenocarcinoma(188;0.0462)	14	2486	-	all_neural(206;0.187)	all_hematologic(28;0.0592)|Prostate(32;0.0906)	756					Q8NC02|Q8NDF6|Q9H9P4|Q9NR13|Q9P222|Q9UDR7	Missense_Mutation	SNP	ENST00000262189.6	37	c.2267G>C	CCDS5931.1	.	.	.	.	.	.	.	.	.	.	C	1.521	-0.546840	0.04024	.	.	ENSG00000055609	ENST00000262189;ENST00000355193	D;D	0.82619	-1.63;-1.63	5.53	1.99	0.26369	.	0.402362	0.17894	N	0.158405	T	0.63248	0.2495	N	0.24115	0.695	0.20196	N	0.999924	B	0.09022	0.002	B	0.06405	0.002	T	0.39522	-0.9610	10	0.10111	T	0.7	.	2.0746	0.03621	0.2442:0.448:0.1226:0.1852	.	756	Q8NEZ4	MLL3_HUMAN	A	756	ENSP00000262189:G756A;ENSP00000347325:G756A	ENSP00000262189:G756A	G	-	2	0	MLL3	151576185	0.024000	0.19004	0.008000	0.14137	0.209000	0.24338	0.188000	0.17018	0.567000	0.29293	0.650000	0.86243	GGA		PASS	0.393	KMT2C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318887.3			9	427	9	427	---	---	---	---
CSMD1	64478	broad.mit.edu	37	8	3256999	3256999	+	Silent	SNP	T	T	C			TCGA-66-2766-01A-01D-1522-08	TCGA-66-2766-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	452b75d0-1818-46aa-8804-9cfc0bd66449	81a4d615-e95e-4c17-87f7-c06d8dd4975a	g.chr8:3256999T>C	ENST00000520002.1	-	17	2877	c.2322A>G	c.(2320-2322)ggA>ggG	p.G774G	CSMD1_ENST00000537824.1_Silent_p.G773G|CSMD1_ENST00000602723.1_Silent_p.G774G|CSMD1_ENST00000400186.3_Silent_p.G774G|CSMD1_ENST00000542608.1_Silent_p.G773G|CSMD1_ENST00000602557.1_Silent_p.G774G|CSMD1_ENST00000539096.1_Silent_p.G773G			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	774	CUB 5. {ECO:0000255|PROSITE- ProRule:PRU00059}.					integral component of membrane (GO:0016021)		p.G502G(1)|p.G773G(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)		ATCCTGGCCATCCAGGAGGCA	0.388																																						uc011kwk.1																			2	Substitution - coding silent(2)		lung(2)	breast(20)|large_intestine(5)	25						c.(2320-2322)GGA>GGG		CUB and Sushi multiple domains 1 precursor							76.0	74.0	75.0					8																	3256999		1893	4116	6009	SO:0001819	synonymous_variant	64478					integral to membrane		g.chr8:3256999T>C			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.2322A>G	8.37:g.3256999T>C						CSMD1_uc011kwj.1_Silent_p.G166G	p.G774G	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)	16	2712	-		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)	774			Extracellular (Potential).|CUB 5.		Q0H0J5|Q96QU9|Q96RM4	Silent	SNP	ENST00000520002.1	37	c.2322A>G		.	.	.	.	.	.	.	.	.	.	T	10.61	1.399599	0.25291	.	.	ENSG00000183117	ENST00000335551	.	.	.	5.35	-3.98	0.04082	.	.	.	.	.	T	0.41213	0.1149	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.34576	-0.9823	4	.	.	.	.	3.6891	0.08339	0.1037:0.3665:0.3146:0.2153	.	.	.	.	V	254	.	.	M	-	1	0	CSMD1	3244406	0.809000	0.29036	0.903000	0.35520	0.986000	0.74619	-0.177000	0.09796	-0.875000	0.04022	0.383000	0.25322	ATG		PASS	0.388	CSMD1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000374500.2	NM_033225		14	55	14	55	---	---	---	---
MSR1	4481	broad.mit.edu	37	8	16026196	16026196	+	Missense_Mutation	SNP	T	T	A			TCGA-66-2766-01A-01D-1522-08	TCGA-66-2766-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	452b75d0-1818-46aa-8804-9cfc0bd66449	81a4d615-e95e-4c17-87f7-c06d8dd4975a	g.chr8:16026196T>A	ENST00000262101.5	-	4	522	c.401A>T	c.(400-402)aAc>aTc	p.N134I	MSR1_ENST00000536385.1_Intron|MSR1_ENST00000350896.3_Missense_Mutation_p.N134I|MSR1_ENST00000445506.2_Missense_Mutation_p.N152I|MSR1_ENST00000381998.4_Missense_Mutation_p.N134I|MSR1_ENST00000355282.2_Missense_Mutation_p.N134I			P21757	MSRE_HUMAN	macrophage scavenger receptor 1	134					cholesterol transport (GO:0030301)|lipoprotein transport (GO:0042953)|plasma lipoprotein particle clearance (GO:0034381)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|receptor-mediated endocytosis (GO:0006898)	collagen trimer (GO:0005581)|cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|integral component of plasma membrane (GO:0005887)|low-density lipoprotein particle (GO:0034362)|plasma membrane (GO:0005886)	low-density lipoprotein particle binding (GO:0030169)|scavenger receptor activity (GO:0005044)	p.N134I(2)		haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(7)|lung(14)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	37				Colorectal(111;0.00475)|COAD - Colon adenocarcinoma(73;0.0164)		GTCCATGAGGTTGGCTTCCAT	0.398																																						uc003wwz.2																			2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(400-402)AAC>ATC		macrophage scavenger receptor 1 isoform type 1							302.0	264.0	277.0					8																	16026196		2203	4300	6503	SO:0001583	missense	4481				cholesterol transport|plasma lipoprotein particle clearance|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis	collagen|integral to plasma membrane|low-density lipoprotein particle	low-density lipoprotein particle binding|protein binding|scavenger receptor activity	g.chr8:16026196T>A	D13263	CCDS5995.1, CCDS5996.1, CCDS5997.1	8p22	2006-02-22			ENSG00000038945	ENSG00000038945		"""CD molecules"""	7376	protein-coding gene	gene with protein product		153622				2251254	Standard	NM_138715		Approved	SCARA1, CD204	uc003wwz.3	P21757	OTTHUMG00000094809	ENST00000262101.5:c.401A>T	8.37:g.16026196T>A	ENSP00000262101:p.Asn134Ile					MSR1_uc010lsu.2_Missense_Mutation_p.N152I|MSR1_uc003wxa.2_Missense_Mutation_p.N134I|MSR1_uc003wxb.2_Missense_Mutation_p.N134I|MSR1_uc011kxz.1_Intron	p.N134I	NM_138715	NP_619729	P21757	MSRE_HUMAN		Colorectal(111;0.00475)|COAD - Colon adenocarcinoma(73;0.0164)	4	599	-			134			Extracellular (Potential).		D3DSP3|O60505|P21759|Q45F10	Missense_Mutation	SNP	ENST00000262101.5	37	c.401A>T	CCDS5995.1	.	.	.	.	.	.	.	.	.	.	T	9.272	1.045993	0.19748	.	.	ENSG00000038945	ENST00000350896;ENST00000262101;ENST00000445506;ENST00000355282;ENST00000381998	T;T;T;T;D	0.94184	-0.59;-0.59;-0.59;-0.59;-3.37	4.91	-0.344	0.12628	Macrophage scavenger receptor (2);	0.341928	0.25009	N	0.033846	D	0.93802	0.8018	M	0.63843	1.955	0.09310	N	0.999999	D;D;D;D	0.58970	0.973;0.984;0.984;0.973	P;P;P;P	0.61275	0.886;0.862;0.862;0.886	D	0.87667	0.2538	10	0.87932	D	0	.	7.7789	0.29054	0.0:0.3614:0.0:0.6386	.	152;134;134;134	B4DDJ5;P21757-2;P21757-3;P21757	.;.;.;MSRE_HUMAN	I	134;134;152;134;134	ENSP00000262100:N134I;ENSP00000262101:N134I;ENSP00000405453:N152I;ENSP00000347430:N134I;ENSP00000371428:N134I	ENSP00000262101:N134I	N	-	2	0	MSR1	16070567	0.001000	0.12720	0.012000	0.15200	0.004000	0.04260	-0.071000	0.11505	-0.223000	0.09943	-0.911000	0.02809	AAC		PASS	0.398	MSR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211627.2			223	79	223	79	---	---	---	---
PSD3	23362	broad.mit.edu	37	8	18729986	18729986	+	Missense_Mutation	SNP	G	G	C			TCGA-66-2766-01A-01D-1522-08	TCGA-66-2766-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	452b75d0-1818-46aa-8804-9cfc0bd66449	81a4d615-e95e-4c17-87f7-c06d8dd4975a	g.chr8:18729986G>C	ENST00000327040.8	-	3	490	c.388C>G	c.(388-390)Ccc>Gcc	p.P130A	PSD3_ENST00000440756.2_Missense_Mutation_p.P130A|PSD3_ENST00000523619.1_Missense_Mutation_p.P65A	NM_015310.3	NP_056125.3	Q9NYI0	PSD3_HUMAN	pleckstrin and Sec7 domain containing 3	130					neuron differentiation (GO:0030182)|positive regulation of GTPase activity (GO:0043547)|regulation of ARF protein signal transduction (GO:0032012)	cell junction (GO:0030054)|postsynaptic membrane (GO:0045211)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)	p.P130A(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(8)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20				Colorectal(111;0.0281)|READ - Rectum adenocarcinoma(644;0.183)		GAGTCAATGGGCTGTAAACTT	0.468																																						uc003wza.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)	3						c.(388-390)CCC>GCC		ADP-ribosylation factor guanine nucleotide							127.0	124.0	125.0					8																	18729986		1879	4108	5987	SO:0001583	missense	23362				regulation of ARF protein signal transduction	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	ARF guanyl-nucleotide exchange factor activity	g.chr8:18729986G>C	AF243495	CCDS34854.1, CCDS43720.1	8p21.3	2013-01-10			ENSG00000156011	ENSG00000156011		"""Pleckstrin homology (PH) domain containing"""	19093	protein-coding gene	gene with protein product		614440					Standard	NM_206909		Approved	KIAA0942, HCA67, EFA6R, DKFZp761K1423	uc003wza.3	Q9NYI0	OTTHUMG00000163711	ENST00000327040.8:c.388C>G	8.37:g.18729986G>C	ENSP00000324127:p.Pro130Ala						p.P130A	NM_015310	NP_056125	Q9NYI0	PSD3_HUMAN		Colorectal(111;0.0281)|READ - Rectum adenocarcinoma(644;0.183)	3	491	-			130					A6NFQ4|E9KL50|Q6B003|Q9Y2F1	Missense_Mutation	SNP	ENST00000327040.8	37	c.388C>G	CCDS43720.1	.	.	.	.	.	.	.	.	.	.	G	12.64	1.999547	0.35320	.	.	ENSG00000156011	ENST00000327040;ENST00000440756;ENST00000523619	T;T;T	0.28255	1.62;1.62;1.62	6.06	3.35	0.38373	.	0.231187	0.31102	N	0.008248	T	0.18299	0.0439	L	0.32530	0.975	0.23232	N	0.998076	B	0.32573	0.376	B	0.23716	0.048	T	0.19582	-1.0301	10	0.72032	D	0.01	.	5.0225	0.14369	0.2222:0.0:0.6321:0.1457	.	130	E9KL50	.	A	130;130;65	ENSP00000324127:P130A;ENSP00000401704:P130A;ENSP00000430640:P65A	ENSP00000324127:P130A	P	-	1	0	PSD3	18774266	0.979000	0.34478	0.984000	0.44739	0.994000	0.84299	1.582000	0.36568	0.468000	0.27243	0.655000	0.94253	CCC		PASS	0.468	PSD3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000374867.1	NM_015310		159	69	159	69	---	---	---	---
TEX15	56154	broad.mit.edu	37	8	30704887	30704887	+	Silent	SNP	C	C	T			TCGA-66-2766-01A-01D-1522-08	TCGA-66-2766-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	452b75d0-1818-46aa-8804-9cfc0bd66449	81a4d615-e95e-4c17-87f7-c06d8dd4975a	g.chr8:30704887C>T	ENST00000256246.2	-	1	1721	c.1647G>A	c.(1645-1647)gtG>gtA	p.V549V	TEX15_ENST00000523186.1_5'Flank	NM_031271.3	NP_112561.2	Q9BXT5	TEX15_HUMAN	testis expressed 15	549					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.V549V(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)		TTGCTGCTGACACTGCATTAT	0.333																																						uc003xil.2																			1	Substitution - coding silent(1)		lung(1)	ovary(3)|upper_aerodigestive_tract(2)|skin(2)	7						c.(1645-1647)GTG>GTA		testis expressed 15							84.0	84.0	84.0					8																	30704887		2203	4300	6503	SO:0001819	synonymous_variant	56154							g.chr8:30704887C>T	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.1647G>A	8.37:g.30704887C>T							p.V549V	NM_031271	NP_112561	Q9BXT5	TEX15_HUMAN		KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)	1	1647	-			549						Silent	SNP	ENST00000256246.2	37	c.1647G>A	CCDS6080.1																																																																																				PASS	0.333	TEX15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376193.1			157	52	157	52	---	---	---	---
UNC5D	137970	broad.mit.edu	37	8	35406884	35406884	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2766-01A-01D-1522-08	TCGA-66-2766-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	452b75d0-1818-46aa-8804-9cfc0bd66449	81a4d615-e95e-4c17-87f7-c06d8dd4975a	g.chr8:35406884C>A	ENST00000404895.2	+	2	506	c.178C>A	c.(178-180)Cca>Aca	p.P60T	UNC5D_ENST00000287272.2_Missense_Mutation_p.P60T|UNC5D_ENST00000453357.2_Missense_Mutation_p.P55T|UNC5D_ENST00000420357.1_Missense_Mutation_p.P60T|UNC5D_ENST00000416672.1_Missense_Mutation_p.P60T	NM_080872.2	NP_543148.2	Q6UXZ4	UNC5D_HUMAN	unc-5 homolog D (C. elegans)	60	Ig-like.				apoptotic process (GO:0006915)|axon guidance (GO:0007411)|pyramidal neuron differentiation (GO:0021859)|regulation of neuron migration (GO:2001222)|signal transduction (GO:0007165)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)		p.P55T(1)		NS(2)|breast(7)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(56)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(6)|urinary_tract(2)	112				READ - Rectum adenocarcinoma(1;1.31e-05)|Colorectal(1;0.000723)		CATAGAGGAGCCAGATGATGC	0.483																																						uc003xjr.1																			1	Substitution - Missense(1)		lung(1)	upper_aerodigestive_tract(2)|ovary(2)|pancreas(1)|skin(1)	6						c.(178-180)CCA>ACA		unc-5 homolog D precursor							68.0	64.0	65.0					8																	35406884		2203	4300	6503	SO:0001583	missense	137970				apoptosis|axon guidance	integral to membrane	receptor activity	g.chr8:35406884C>A	AB055056	CCDS6093.2	8p12	2013-01-11			ENSG00000156687	ENSG00000156687		"""Immunoglobulin superfamily / I-set domain containing"""	18634	protein-coding gene	gene with protein product						18402767	Standard	NM_080872		Approved	KIAA1777, Unc5h4	uc003xjr.2	Q6UXZ4	OTTHUMG00000157145	ENST00000404895.2:c.178C>A	8.37:g.35406884C>A	ENSP00000385143:p.Pro60Thr					UNC5D_uc003xjs.1_Missense_Mutation_p.P55T	p.P60T	NM_080872	NP_543148	Q6UXZ4	UNC5D_HUMAN		READ - Rectum adenocarcinoma(1;1.31e-05)|Colorectal(1;0.000723)	2	506	+			60			Extracellular (Potential).|Ig-like.		Q8WYP7	Missense_Mutation	SNP	ENST00000404895.2	37	c.178C>A	CCDS6093.2	.	.	.	.	.	.	.	.	.	.	C	29.9	5.046839	0.93740	.	.	ENSG00000156687	ENST00000404895;ENST00000420357;ENST00000287272;ENST00000416672;ENST00000453357	T;T;T;T;T	0.50001	0.76;0.76;0.76;0.76;0.76	5.97	5.97	0.96955	Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.75391	0.3843	M	0.87328	2.875	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.997	T	0.78119	-0.2328	10	0.87932	D	0	-13.6796	20.4324	0.99085	0.0:1.0:0.0:0.0	.	55;60	Q6UXZ4-2;Q6UXZ4	.;UNC5D_HUMAN	T	60;60;60;60;55	ENSP00000385143:P60T;ENSP00000392739:P60T;ENSP00000287272:P60T;ENSP00000412652:P60T;ENSP00000394303:P55T	ENSP00000287272:P60T	P	+	1	0	UNC5D	35526426	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.818000	0.86416	2.833000	0.97629	0.585000	0.79938	CCA		PASS	0.483	UNC5D-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000347586.2			76	32	76	32	---	---	---	---
PRKDC	5591	broad.mit.edu	37	8	48869797	48869797	+	Silent	SNP	T	T	C			TCGA-66-2766-01A-01D-1522-08	TCGA-66-2766-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	452b75d0-1818-46aa-8804-9cfc0bd66449	81a4d615-e95e-4c17-87f7-c06d8dd4975a	g.chr8:48869797T>C	ENST00000314191.2	-	3	314	c.258A>G	c.(256-258)ctA>ctG	p.L86L	PRKDC_ENST00000338368.3_Silent_p.L86L|PRKDC_ENST00000523565.1_5'UTR	NM_006904.6	NP_008835.5	P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic polypeptide	86					B cell lineage commitment (GO:0002326)|brain development (GO:0007420)|cellular protein modification process (GO:0006464)|cellular response to insulin stimulus (GO:0032869)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via nonhomologous end joining (GO:0006303)|ectopic germ cell programmed cell death (GO:0035234)|heart development (GO:0007507)|immunoglobulin V(D)J recombination (GO:0033152)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|negative regulation of protein phosphorylation (GO:0001933)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|pro-B cell differentiation (GO:0002328)|protein destabilization (GO:0031648)|regulation of circadian rhythm (GO:0042752)|response to gamma radiation (GO:0010332)|rhythmic process (GO:0048511)|signal transduction involved in mitotic G1 DNA damage checkpoint (GO:0072431)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell receptor V(D)J recombination (GO:0033153)|telomere maintenance (GO:0000723)	cytosol (GO:0005829)|DNA-dependent protein kinase-DNA ligase 4 complex (GO:0005958)|membrane (GO:0016020)|nonhomologous end joining complex (GO:0070419)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent protein kinase activity (GO:0004677)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|transcription factor binding (GO:0008134)	p.L86L(2)		NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7)	147		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)			Caffeine(DB00201)	ATAAAAACTTTAGGATTTCTT	0.303								Non-homologous end-joining																													Esophageal Squamous(79;1091 1253 12329 31680 40677)	uc003xqi.2																			2	Substitution - coding silent(2)		lung(2)	lung(12)|central_nervous_system(9)|ovary(6)|skin(4)|large_intestine(3)	34						c.(256-258)CTA>CTG	NHEJ	protein kinase, DNA-activated, catalytic							58.0	54.0	55.0					8																	48869797		1794	4067	5861	SO:0001819	synonymous_variant	5591				cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter	DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex	ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding	g.chr8:48869797T>C		CCDS75734.1, CCDS75735.1	8q11	2014-09-17				ENSG00000253729	2.7.11.1		9413	protein-coding gene	gene with protein product		600899		HYRC, HYRC1		7638222	Standard	NM_001081640		Approved	DNPK1, p350, DNAPK, XRCC7, DNA-PKcs	uc003xqi.3	P78527		ENST00000314191.2:c.258A>G	8.37:g.48869797T>C						PRKDC_uc003xqj.2_Silent_p.L86L|PRKDC_uc011ldh.1_Silent_p.L86L	p.L86L	NM_006904	NP_008835	P78527	PRKDC_HUMAN			3	315	-		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)	86					P78528|Q13327|Q13337|Q14175|Q59H99|Q7Z611|Q96SE6|Q9UME3	Silent	SNP	ENST00000314191.2	37	c.258A>G																																																																																					PASS	0.303	PRKDC-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_001081640		33	8	33	8	---	---	---	---
SNTG1	54212	broad.mit.edu	37	8	51363290	51363290	+	Splice_Site	SNP	G	G	T			TCGA-66-2766-01A-01D-1522-08	TCGA-66-2766-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	452b75d0-1818-46aa-8804-9cfc0bd66449	81a4d615-e95e-4c17-87f7-c06d8dd4975a	g.chr8:51363290G>T	ENST00000522124.1	+	8	1024		c.e8+1		SNTG1_ENST00000517473.1_Splice_Site|SNTG1_ENST00000276467.5_Splice_Site|SNTG1_ENST00000518864.1_Splice_Site	NM_018967.2	NP_061840.1	Q9NSN8	SNTG1_HUMAN	syntrophin, gamma 1						cell communication (GO:0007154)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)|ruffle membrane (GO:0032587)|syntrophin complex (GO:0016013)	protein C-terminus binding (GO:0008022)	p.?(2)		NS(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(36)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	66		all_cancers(86;0.00754)|all_epithelial(80;9.76e-05)|Lung NSC(129;0.000865)|all_lung(136;0.00249)|Colorectal(162;0.22)				TGAAGAAGTGGTGAGTTTACT	0.328																																						uc010lxy.1																			2	Unknown(2)		lung(2)	ovary(5)	5						c.e9+1		syntrophin, gamma 1							138.0	129.0	132.0					8																	51363290		2202	4299	6501	SO:0001630	splice_region_variant	54212				cell communication	cytoplasm|cytoskeleton|nucleus|ruffle membrane|syntrophin complex	actin binding|protein C-terminus binding	g.chr8:51363290G>T	AJ003030	CCDS6147.1, CCDS75737.1	8q11-q12	2008-07-03				ENSG00000147481			13740	protein-coding gene	gene with protein product		608714				10747910	Standard	NM_018967		Approved	SYN4, G1SYN	uc003xqs.1	Q9NSN8		ENST00000522124.1:c.363+1G>T	8.37:g.51363290G>T						SNTG1_uc003xqs.1_Splice_Site_p.V121_splice|SNTG1_uc010lxz.1_Splice_Site_p.V121_splice|SNTG1_uc011ldl.1_Splice_Site	p.V121_splice	NM_018967	NP_061840	Q9NSN8	SNTG1_HUMAN			9	734	+		all_cancers(86;0.00754)|all_epithelial(80;9.76e-05)|Lung NSC(129;0.000865)|all_lung(136;0.00249)|Colorectal(162;0.22)						Q2M3Q0|Q9NY98	Splice_Site	SNP	ENST00000522124.1	37	c.363_splice	CCDS6147.1	.	.	.	.	.	.	.	.	.	.	G	20.6	4.012878	0.75161	.	.	ENSG00000147481	ENST00000518864;ENST00000522124;ENST00000517473;ENST00000276467	.	.	.	5.4	5.4	0.78164	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.6701	0.85263	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	SNTG1	51525843	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	6.791000	0.75120	2.526000	0.85167	0.655000	0.94253	.		PASS	0.328	SNTG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377964.1		Intron	36	14	36	14	---	---	---	---
NSMAF	8439	broad.mit.edu	37	8	59510091	59510091	+	Silent	SNP	C	C	T			TCGA-66-2766-01A-01D-1522-08	TCGA-66-2766-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	452b75d0-1818-46aa-8804-9cfc0bd66449	81a4d615-e95e-4c17-87f7-c06d8dd4975a	g.chr8:59510091C>T	ENST00000038176.3	-	21	1859	c.1647G>A	c.(1645-1647)gaG>gaA	p.E549E	NSMAF_ENST00000427130.2_Silent_p.E580E	NM_003580.3	NP_003571.2	Q92636	FAN_HUMAN	neutral sphingomyelinase (N-SMase) activation associated factor	549	BEACH. {ECO:0000255|PROSITE- ProRule:PRU00026}.				ceramide metabolic process (GO:0006672)|intracellular signal transduction (GO:0035556)|positive regulation of apoptotic process (GO:0043065)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)	receptor signaling protein activity (GO:0005057)|sphingomyelin phosphodiesterase activator activity (GO:0016230)	p.E580E(1)|p.E549E(1)		autonomic_ganglia(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	38		all_lung(136;0.174)|Lung NSC(129;0.2)				TGGCTACCTTCTCATCAGGAT	0.423																																						uc003xtt.2																			2	Substitution - coding silent(2)		lung(2)	ovary(1)	1						c.(1645-1647)GAG>GAA		neutral sphingomyelinase (N-SMase) activation							157.0	132.0	140.0					8																	59510091		2203	4300	6503	SO:0001819	synonymous_variant	8439				ceramide metabolic process	cytoplasm|soluble fraction	protein binding|receptor signaling protein activity	g.chr8:59510091C>T	X96586	CCDS6173.1, CCDS47864.1	8q12-q13	2013-01-10			ENSG00000035681	ENSG00000035681		"""WD repeat domain containing"""	8017	protein-coding gene	gene with protein product		603043				8808629, 10640829	Standard	NM_003580		Approved	FAN	uc011lee.2	Q92636	OTTHUMG00000164352	ENST00000038176.3:c.1647G>A	8.37:g.59510091C>T						NSMAF_uc011lee.1_Silent_p.E580E	p.E549E	NM_003580	NP_003571	Q92636	FAN_HUMAN			21	1861	-		all_lung(136;0.174)|Lung NSC(129;0.2)	549			BEACH.		B4DFB0|E9PCH0|Q8IW26	Silent	SNP	ENST00000038176.3	37	c.1647G>A	CCDS6173.1																																																																																				PASS	0.423	NSMAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378384.1	NM_003580		4	184	4	184	---	---	---	---
NCOA2	10499	broad.mit.edu	37	8	71069449	71069449	+	Missense_Mutation	SNP	G	G	A			TCGA-66-2766-01A-01D-1522-08	TCGA-66-2766-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	452b75d0-1818-46aa-8804-9cfc0bd66449	81a4d615-e95e-4c17-87f7-c06d8dd4975a	g.chr8:71069449G>A	ENST00000452400.2	-	11	1332	c.1151C>T	c.(1150-1152)cCg>cTg	p.P384L	NCOA2_ENST00000524223.1_5'Flank	NM_006540.2	NP_006531.1	Q15596	NCOA2_HUMAN	nuclear receptor coactivator 2	384					cellular lipid metabolic process (GO:0044255)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of glucose metabolic process (GO:0010906)|regulation of transcription, DNA-templated (GO:0006355)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	chromatin binding (GO:0003682)|histone acetyltransferase activity (GO:0004402)|ligand-dependent nuclear receptor binding (GO:0016922)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|nuclear hormone receptor binding (GO:0035257)|signal transducer activity (GO:0004871)|thyroid hormone receptor coactivator activity (GO:0030375)|transcription coactivator activity (GO:0003713)	p.P384L(1)	PAX3/NCOA2(4)|HEY1/NCOA2(10)	NS(1)|breast(4)|endometrium(7)|kidney(4)|large_intestine(10)|lung(25)|ovary(1)|pancreas(2)|prostate(2)|skin(4)	60	Breast(64;0.201)		Epithelial(68;0.0147)|OV - Ovarian serous cystadenocarcinoma(28;0.0455)|all cancers(69;0.0606)			AGTCAGATCCGGATTCATCAC	0.413			T	"""RUNXBP2, HEY1"""	"""AML, Chondrosarcoma"""																																	uc003xyn.1				Dom	yes		8	8q13.1	10499	T	nuclear receptor coactivator 2 (TIF2)			L	RUNXBP2		AML	PAX3/NCOA2(4)	1	Substitution - Missense(1)		lung(1)	lung(6)|soft_tissue(4)|breast(2)|skin(2)|ovary(1)|pancreas(1)	16						c.(1150-1152)CCG>CTG		nuclear receptor coactivator 2							63.0	59.0	60.0					8																	71069449		1922	4135	6057	SO:0001583	missense	10499				cellular lipid metabolic process|transcription, DNA-dependent	nucleoplasm	histone acetyltransferase activity|ligand-dependent nuclear receptor binding|nuclear hormone receptor binding|signal transducer activity	g.chr8:71069449G>A	X97674	CCDS47872.1	8q13.3	2011-07-01			ENSG00000140396	ENSG00000140396		"""Chromatin-modifying enzymes / K-acetyltransferases"", ""Basic helix-loop-helix proteins"""	7669	protein-coding gene	gene with protein product		601993				9111344, 8670870	Standard	XM_005251128		Approved	TIF2, GRIP1, NCoA-2, KAT13C, bHLHe75	uc003xyn.1	Q15596	OTTHUMG00000164671	ENST00000452400.2:c.1151C>T	8.37:g.71069449G>A	ENSP00000399968:p.Pro384Leu						p.P384L	NM_006540	NP_006531	Q15596	NCOA2_HUMAN	Epithelial(68;0.0147)|OV - Ovarian serous cystadenocarcinoma(28;0.0455)|all cancers(69;0.0606)		11	1313	-	Breast(64;0.201)		384					Q14CD2	Missense_Mutation	SNP	ENST00000452400.2	37	c.1151C>T	CCDS47872.1	.	.	.	.	.	.	.	.	.	.	G	12.67	2.006251	0.35415	.	.	ENSG00000140396	ENST00000452400	T	0.01572	4.76	5.61	4.66	0.58398	.	0.177466	0.52532	D	0.000079	T	0.01905	0.0060	L	0.29908	0.895	0.80722	D	1	B	0.10296	0.003	B	0.06405	0.002	T	0.59736	-0.7398	10	0.27785	T	0.31	.	13.263	0.60117	0.0:0.0:0.7264:0.2736	.	384	Q15596	NCOA2_HUMAN	L	384	ENSP00000399968:P384L	ENSP00000399968:P384L	P	-	2	0	NCOA2	71232003	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.131000	0.57970	2.635000	0.89317	0.563000	0.77884	CCG		PASS	0.413	NCOA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379696.1			38	14	38	14	---	---	---	---
DCAF4L2	138009	broad.mit.edu	37	8	88885511	88885511	+	Missense_Mutation	SNP	T	T	C			TCGA-66-2766-01A-01D-1522-08	TCGA-66-2766-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	452b75d0-1818-46aa-8804-9cfc0bd66449	81a4d615-e95e-4c17-87f7-c06d8dd4975a	g.chr8:88885511T>C	ENST00000319675.3	-	1	785	c.689A>G	c.(688-690)cAg>cGg	p.Q230R		NM_152418.3	NP_689631.1	Q8NA75	DC4L2_HUMAN	DDB1 and CUL4 associated factor 4-like 2	230								p.Q230R(1)		breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|liver(2)|lung(40)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	83						TGCAAACTGCTGGGCCAAGAC	0.517																																						uc003ydz.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(688-690)CAG>CGG		WD repeat domain 21C							174.0	160.0	165.0					8																	88885511		2203	4300	6503	SO:0001583	missense	138009							g.chr8:88885511T>C	AL833507	CCDS6245.1	8q21.3	2013-01-09	2009-07-17	2009-07-17		ENSG00000176566		"""WD repeat domain containing"""	26657	protein-coding gene	gene with protein product			"""WD repeat domain 21C"""	WDR21C		14702039	Standard	NM_152418		Approved		uc003ydz.3	Q8NA75		ENST00000319675.3:c.689A>G	8.37:g.88885511T>C	ENSP00000316496:p.Gln230Arg						p.Q230R	NM_152418	NP_689631	Q8NA75	DC4L2_HUMAN			1	786	-			230						Missense_Mutation	SNP	ENST00000319675.3	37	c.689A>G	CCDS6245.1	.	.	.	.	.	.	.	.	.	.	T	5.555	0.287281	0.10513	.	.	ENSG00000176566	ENST00000319675	T	0.25250	1.81	1.52	-0.197	0.13228	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.100524	0.64402	D	0.000001	T	0.34890	0.0913	M	0.77820	2.39	0.09310	N	1	P	0.52316	0.952	P	0.53518	0.728	T	0.18304	-1.0341	10	0.59425	D	0.04	.	4.4707	0.11712	0.0:0.0:0.3392:0.6608	.	230	Q8NA75	DC4L2_HUMAN	R	230	ENSP00000316496:Q230R	ENSP00000316496:Q230R	Q	-	2	0	DCAF4L2	88954627	0.958000	0.32768	0.004000	0.12327	0.145000	0.21501	0.656000	0.24948	-0.220000	0.09988	0.383000	0.25322	CAG		PASS	0.517	DCAF4L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375302.1	NM_152418		100	51	100	51	---	---	---	---
TMEM74	157753	broad.mit.edu	37	8	109796805	109796805	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2766-01A-01D-1522-08	TCGA-66-2766-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	452b75d0-1818-46aa-8804-9cfc0bd66449	81a4d615-e95e-4c17-87f7-c06d8dd4975a	g.chr8:109796805C>T	ENST00000297459.3	-	2	701	c.523G>A	c.(523-525)Gac>Aac	p.D175N	TMEM74_ENST00000518838.1_Intron	NM_153015.1	NP_694560.1	Q96NL1	TMM74_HUMAN	transmembrane protein 74	175					autophagy (GO:0006914)	cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)		p.D175N(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(3)|skin(2)|urinary_tract(1)	29			OV - Ovarian serous cystadenocarcinoma(57;3.08e-10)			AAACCATAGTCTATAGACTTC	0.483																																						uc003ymy.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|lung(1)|kidney(1)|skin(1)	4						c.(523-525)GAC>AAC		transmembrane protein 74							112.0	106.0	108.0					8																	109796805		2203	4300	6503	SO:0001583	missense	157753				autophagy	autophagic vacuole membrane|cytoplasmic vesicle|integral to membrane|lysosomal membrane		g.chr8:109796805C>T	AK055230	CCDS6310.1	8q23.1	2009-11-06				ENSG00000164841			26409	protein-coding gene	gene with protein product		613935				12477932	Standard	NM_153015		Approved	FLJ30668, NET36	uc003ymy.1	Q96NL1		ENST00000297459.3:c.523G>A	8.37:g.109796805C>T	ENSP00000297459:p.Asp175Asn					TMEM74_uc003ymx.2_Intron	p.D175N	NM_153015	NP_694560	Q96NL1	TMM74_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;3.08e-10)		2	628	-			175						Missense_Mutation	SNP	ENST00000297459.3	37	c.523G>A	CCDS6310.1	.	.	.	.	.	.	.	.	.	.	C	21.2	4.105980	0.77096	.	.	ENSG00000164841	ENST00000297459	T	0.16597	2.33	5.95	5.95	0.96441	.	0.103207	0.64402	D	0.000004	T	0.44664	0.1304	M	0.69358	2.11	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.20107	-1.0285	10	0.87932	D	0	-26.7634	20.3812	0.98933	0.0:1.0:0.0:0.0	.	175	Q96NL1	TMM74_HUMAN	N	175	ENSP00000297459:D175N	ENSP00000297459:D175N	D	-	1	0	TMEM74	109865981	1.000000	0.71417	0.940000	0.37924	0.297000	0.27493	7.818000	0.86416	2.821000	0.97095	0.650000	0.86243	GAC		PASS	0.483	TMEM74-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380755.1	NM_153015		9	149	9	149	---	---	---	---
TMEM74	157753	broad.mit.edu	37	8	109796815	109796815	+	Silent	SNP	C	C	A			TCGA-66-2766-01A-01D-1522-08	TCGA-66-2766-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	452b75d0-1818-46aa-8804-9cfc0bd66449	81a4d615-e95e-4c17-87f7-c06d8dd4975a	g.chr8:109796815C>A	ENST00000297459.3	-	2	691	c.513G>T	c.(511-513)ggG>ggT	p.G171G	TMEM74_ENST00000518838.1_Intron	NM_153015.1	NP_694560.1	Q96NL1	TMM74_HUMAN	transmembrane protein 74	171					autophagy (GO:0006914)	cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)		p.G171G(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(3)|skin(2)|urinary_tract(1)	29			OV - Ovarian serous cystadenocarcinoma(57;3.08e-10)			CTATAGACTTCCCTGAAGACG	0.483																																						uc003ymy.1																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|lung(1)|kidney(1)|skin(1)	4						c.(511-513)GGG>GGT		transmembrane protein 74							114.0	108.0	110.0					8																	109796815		2203	4300	6503	SO:0001819	synonymous_variant	157753				autophagy	autophagic vacuole membrane|cytoplasmic vesicle|integral to membrane|lysosomal membrane		g.chr8:109796815C>A	AK055230	CCDS6310.1	8q23.1	2009-11-06				ENSG00000164841			26409	protein-coding gene	gene with protein product		613935				12477932	Standard	NM_153015		Approved	FLJ30668, NET36	uc003ymy.1	Q96NL1		ENST00000297459.3:c.513G>T	8.37:g.109796815C>A						TMEM74_uc003ymx.2_Intron	p.G171G	NM_153015	NP_694560	Q96NL1	TMM74_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;3.08e-10)		2	618	-			171						Silent	SNP	ENST00000297459.3	37	c.513G>T	CCDS6310.1																																																																																				PASS	0.483	TMEM74-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380755.1	NM_153015		6	156	6	156	---	---	---	---
PKHD1L1	93035	broad.mit.edu	37	8	110476533	110476533	+	Missense_Mutation	SNP	G	G	C			TCGA-66-2766-01A-01D-1522-08	TCGA-66-2766-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	452b75d0-1818-46aa-8804-9cfc0bd66449	81a4d615-e95e-4c17-87f7-c06d8dd4975a	g.chr8:110476533G>C	ENST00000378402.5	+	49	7576	c.7472G>C	c.(7471-7473)aGa>aCa	p.R2491T		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	2491					immune response (GO:0006955)	cytosol (GO:0005829)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)	receptor activity (GO:0004872)	p.R2493T(1)		NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			TCTTATGTAAGAGGCTGTGCA	0.428										HNSCC(38;0.096)																												uc003yne.2																			1	Substitution - Missense(1)		lung(1)	ovary(9)|central_nervous_system(2)|large_intestine(1)|breast(1)|pancreas(1)	14						c.(7471-7473)AGA>ACA		fibrocystin L precursor							57.0	55.0	56.0					8																	110476533		1868	4104	5972	SO:0001583	missense	93035				immune response	cytosol|extracellular space|integral to membrane	receptor activity	g.chr8:110476533G>C	AY219181	CCDS47911.1	8q23	2003-03-28			ENSG00000205038	ENSG00000205038			20313	protein-coding gene	gene with protein product		607843				12620974	Standard	NM_177531		Approved		uc003yne.3	Q86WI1	OTTHUMG00000164934	ENST00000378402.5:c.7472G>C	8.37:g.110476533G>C	ENSP00000367655:p.Arg2491Thr	HNSCC(38;0.096)					p.R2491T	NM_177531	NP_803875	Q86WI1	PKHL1_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)		49	7576	+			2491			Extracellular (Potential).		Q567P2|Q9UF27	Missense_Mutation	SNP	ENST00000378402.5	37	c.7472G>C	CCDS47911.1	.	.	.	.	.	.	.	.	.	.	G	17.44	3.391397	0.62066	.	.	ENSG00000205038	ENST00000378402	D	0.93247	-3.19	5.64	1.42	0.22433	Pectin lyase fold/virulence factor (1);	0.125321	0.49916	D	0.000122	D	0.91026	0.7177	M	0.67569	2.06	0.25557	N	0.987025	B	0.26512	0.151	B	0.31547	0.132	D	0.83755	0.0211	10	0.59425	D	0.04	.	8.6834	0.34223	0.3619:0.0:0.6381:0.0	.	2491	Q86WI1	PKHL1_HUMAN	T	2491	ENSP00000367655:R2491T	ENSP00000367655:R2491T	R	+	2	0	PKHD1L1	110545709	1.000000	0.71417	0.990000	0.47175	0.989000	0.77384	2.387000	0.44389	-0.031000	0.13781	0.650000	0.86243	AGA		PASS	0.428	PKHD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381017.1	NM_177531		57	29	57	29	---	---	---	---
COL14A1	7373	broad.mit.edu	37	8	121228694	121228694	+	Missense_Mutation	SNP	G	G	A			TCGA-66-2766-01A-01D-1522-08	TCGA-66-2766-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	452b75d0-1818-46aa-8804-9cfc0bd66449	81a4d615-e95e-4c17-87f7-c06d8dd4975a	g.chr8:121228694G>A	ENST00000297848.3	+	14	1972	c.1702G>A	c.(1702-1704)Gta>Ata	p.V568I	COL14A1_ENST00000309791.4_Missense_Mutation_p.V568I|COL14A1_ENST00000432943.2_3'UTR|COL14A1_ENST00000247781.3_Missense_Mutation_p.V473I|COL14A1_ENST00000537875.1_3'UTR	NM_021110.1	NP_066933.1			collagen, type XIV, alpha 1									p.V568I(1)		NS(1)|autonomic_ganglia(1)|breast(11)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(9)|large_intestine(31)|lung(42)|ovary(5)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	119	Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)		OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503)			TTATCGAATTGTATATAACAA	0.388																																						uc003yox.2																			1	Substitution - Missense(1)		lung(1)	ovary(4)|kidney(4)|skin(2)|pancreas(1)|central_nervous_system(1)	12						c.(1702-1704)GTA>ATA		collagen, type XIV, alpha 1 precursor							121.0	113.0	116.0					8																	121228694		2203	4300	6503	SO:0001583	missense	7373				cell-cell adhesion|collagen fibril organization	collagen type XIV|extracellular space	collagen binding|extracellular matrix structural constituent|protein binding, bridging	g.chr8:121228694G>A		CCDS34938.1	8q23	2013-02-11	2008-02-04		ENSG00000187955	ENSG00000187955		"""Collagens"", ""Fibronectin type III domain containing"""	2191	protein-coding gene	gene with protein product		120324	"""undulin"""	UND		1716629, 9427527	Standard	NM_021110		Approved		uc003yox.4	Q05707	OTTHUMG00000149877	ENST00000297848.3:c.1702G>A	8.37:g.121228694G>A	ENSP00000297848:p.Val568Ile					COL14A1_uc003yoy.2_Missense_Mutation_p.V246I|COL14A1_uc010mde.1_Missense_Mutation_p.V246I	p.V568I	NM_021110	NP_066933	Q05707	COEA1_HUMAN	OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503)		14	1967	+	Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)		568			Fibronectin type-III 4.			Missense_Mutation	SNP	ENST00000297848.3	37	c.1702G>A	CCDS34938.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	4.238|4.238	0.043024|0.043024	0.08196|0.08196	.|.	.|.	ENSG00000187955|ENSG00000187955	ENST00000523142|ENST00000309791;ENST00000297848;ENST00000247781;ENST00000434620	.|T;T;T;T	.|0.56444	.|0.46;0.46;0.46;0.46	5.29|5.29	2.29|2.29	0.28610|0.28610	.|Fibronectin, type III (4);Immunoglobulin-like fold (1);	.|0.368598	.|0.28510	.|N	.|0.015091	T|T	0.32882|0.32882	0.0844|0.0844	L|L	0.31845|0.31845	0.965|0.965	0.80722|0.80722	D|D	1|1	.|B;B	.|0.06786	.|0.001;0.001	.|B;B	.|0.10450	.|0.005;0.004	T|T	0.08207|0.08207	-1.0733|-1.0733	5|10	.|0.22109	.|T	.|0.4	.|.	2.8678|2.8678	0.05607|0.05607	0.2696:0.0:0.3418:0.3886|0.2696:0.0:0.3418:0.3886	.|.	.|568;568	.|Q05707-2;Q05707	.|.;COEA1_HUMAN	Y|I	324|568;568;473;381	.|ENSP00000311809:V568I;ENSP00000297848:V568I;ENSP00000247781:V473I;ENSP00000409461:V381I	.|ENSP00000247781:V473I	C|V	+|+	2|1	0|0	COL14A1|COL14A1	121297875|121297875	1.000000|1.000000	0.71417|0.71417	0.968000|0.968000	0.41197|0.41197	0.056000|0.056000	0.15407|0.15407	1.916000|1.916000	0.39986|0.39986	0.805000|0.805000	0.34159|0.34159	0.655000|0.655000	0.94253|0.94253	TGT|GTA		PASS	0.388	COL14A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313657.2	NM_021110		58	222	58	222	---	---	---	---
ZFAT	57623	broad.mit.edu	37	8	135669838	135669838	+	Silent	SNP	T	T	A			TCGA-66-2766-01A-01D-1522-08	TCGA-66-2766-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	452b75d0-1818-46aa-8804-9cfc0bd66449	81a4d615-e95e-4c17-87f7-c06d8dd4975a	g.chr8:135669838T>A	ENST00000377838.3	-	2	336	c.162A>T	c.(160-162)acA>acT	p.T54T	ZFAT_ENST00000520214.1_Silent_p.T42T|ZFAT_ENST00000520727.1_Silent_p.T42T|ZFAT_ENST00000523399.1_Silent_p.T54T|ZFAT_ENST00000520356.1_Silent_p.T42T|ZFAT_ENST00000429442.2_Silent_p.T42T	NM_001174157.1|NM_020863.3	NP_001167628.1|NP_065914.2	Q9P243	ZFAT_HUMAN	zinc finger and AT hook domain containing	54					hematopoietic progenitor cell differentiation (GO:0002244)|spongiotrophoblast layer development (GO:0060712)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)	p.T54T(1)|p.T42T(1)		autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(9)|large_intestine(8)|lung(16)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	54	all_epithelial(106;8.26e-19)|Lung NSC(106;3.47e-07)|all_lung(105;1.39e-06)|Ovarian(258;0.0102)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0432)			GGGGTTCAGGTGTACTCAGAG	0.512																																						uc003yup.2																			2	Substitution - coding silent(2)		lung(2)	central_nervous_system(1)	1						c.(160-162)ACA>ACT		zinc finger protein 406 isoform ZFAT-1							83.0	81.0	82.0					8																	135669838		1867	4094	5961	SO:0001819	synonymous_variant	57623				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus	DNA binding|zinc ion binding	g.chr8:135669838T>A	BC025423	CCDS43768.1, CCDS47924.1, CCDS43768.2, CCDS55275.1, CCDS55276.1	8q24.23	2008-06-05	2008-01-25	2008-01-25	ENSG00000066827	ENSG00000066827		"""Zinc fingers, C2H2-type"""	19899	protein-coding gene	gene with protein product		610931	"""zinc finger protein 406"""	ZNF406, ZFAT1		10819331, 18329245	Standard	NM_020863		Approved	KIAA1485	uc003yup.3	Q9P243	OTTHUMG00000164321	ENST00000377838.3:c.162A>T	8.37:g.135669838T>A						ZFAT_uc003yun.2_Silent_p.T42T|ZFAT_uc003yuo.2_Silent_p.T42T|ZFAT_uc010meh.2_Silent_p.T42T|ZFAT_uc010mei.2_RNA|ZFAT_uc003yuq.2_Silent_p.T42T|ZFAT_uc010mej.2_Silent_p.T54T|ZFAT_uc003yur.2_Silent_p.T42T	p.T54T	NM_020863	NP_065914	Q9P243	ZFAT_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.0432)		2	337	-	all_epithelial(106;8.26e-19)|Lung NSC(106;3.47e-07)|all_lung(105;1.39e-06)|Ovarian(258;0.0102)|Acute lymphoblastic leukemia(118;0.155)		54					B7ZL15|E9PER3|Q3MIM5|Q6PJ01|Q75PJ6|Q75PJ7|Q75PJ9|Q86X64	Silent	SNP	ENST00000377838.3	37	c.162A>T	CCDS47924.1																																																																																				PASS	0.512	ZFAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378272.1	NM_001029939		71	44	71	44	---	---	---	---
FAM135B	51059	broad.mit.edu	37	8	139164883	139164883	+	Missense_Mutation	SNP	A	A	T			TCGA-66-2766-01A-01D-1522-08	TCGA-66-2766-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	452b75d0-1818-46aa-8804-9cfc0bd66449	81a4d615-e95e-4c17-87f7-c06d8dd4975a	g.chr8:139164883A>T	ENST00000395297.1	-	13	2005	c.1835T>A	c.(1834-1836)cTc>cAc	p.L612H		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	612								p.L612H(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)			TAATTCATGGAGAGTTGTTTT	0.458										HNSCC(54;0.14)																												uc003yuy.2																			2	Substitution - Missense(2)		lung(2)	ovary(7)|skin(2)	9						c.(1834-1836)CTC>CAC		hypothetical protein LOC51059							153.0	149.0	150.0					8																	139164883		1896	4120	6016	SO:0001583	missense	51059							g.chr8:139164883A>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.1835T>A	8.37:g.139164883A>T	ENSP00000378710:p.Leu612His	HNSCC(54;0.14)				FAM135B_uc003yux.2_Missense_Mutation_p.L513H|FAM135B_uc003yuz.2_RNA|FAM135B_uc003yva.2_Missense_Mutation_p.L174H|FAM135B_uc003yvb.2_Missense_Mutation_p.L174H	p.L612H	NM_015912	NP_056996	Q49AJ0	F135B_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.0805)		13	2006	-	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)		612					B5MDB3|O95879|Q2WGJ7|Q3KP46	Missense_Mutation	SNP	ENST00000395297.1	37	c.1835T>A	CCDS6375.2	.	.	.	.	.	.	.	.	.	.	A	15.58	2.876177	0.51801	.	.	ENSG00000147724	ENST00000395297	T	0.16324	2.35	5.75	-1.36	0.09085	.	1.654260	0.02994	N	0.147231	T	0.32971	0.0847	M	0.62723	1.935	0.09310	N	1	D;D;D	0.71674	0.998;0.993;0.973	P;P;P	0.61592	0.891;0.8;0.533	T	0.22941	-1.0202	10	0.42905	T	0.14	-0.2058	5.9633	0.19310	0.5359:0.1315:0.3326:0.0	.	612;612;612	Q49AJ0-3;Q49AJ0-4;Q49AJ0	.;.;F135B_HUMAN	H	612	ENSP00000378710:L612H	ENSP00000276737:L612H	L	-	2	0	FAM135B	139234065	0.000000	0.05858	0.000000	0.03702	0.020000	0.10135	1.160000	0.31761	-0.470000	0.06901	0.533000	0.62120	CTC		PASS	0.458	FAM135B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313590.3	NM_015912		255	140	255	140	---	---	---	---
CYP11B1	1584	broad.mit.edu	37	8	143961094	143961094	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2766-01A-01D-1522-08	TCGA-66-2766-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	452b75d0-1818-46aa-8804-9cfc0bd66449	81a4d615-e95e-4c17-87f7-c06d8dd4975a	g.chr8:143961094C>T	ENST00000292427.4	-	1	168	c.136G>A	c.(136-138)Ggc>Agc	p.G46S	CYP11B1_ENST00000377675.3_Missense_Mutation_p.G46S|CYP11B1_ENST00000517471.1_Missense_Mutation_p.G46S	NM_000497.3	NP_000488.3	P15538	C11B1_HUMAN	cytochrome P450, family 11, subfamily B, polypeptide 1	46					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.G46S(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)	CACCTGTTGCCTGGACGCCGG	0.632									Familial Hyperaldosteronism type I																													uc003yxi.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)	3						c.(136-138)GGC>AGC		cytochrome P450, family 11, subfamily B,	Mitotane(DB00648)						67.0	63.0	64.0					8																	143961094		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.chr8:143961094C>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.136G>A	8.37:g.143961094C>T	ENSP00000292427:p.Gly46Ser					CYP11B1_uc003yxj.2_Missense_Mutation_p.G46S|CYP11B1_uc010mey.2_Missense_Mutation_p.G46S	p.G46S	NM_000497	NP_000488	P15538	C11B1_HUMAN			1	143	-	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)		46					Q14095|Q4VAQ8|Q4VAQ9|Q9UML2	Missense_Mutation	SNP	ENST00000292427.4	37	c.136G>A	CCDS6392.1	.	.	.	.	.	.	.	.	.	.	C	7.545	0.661588	0.14645	.	.	ENSG00000160882	ENST00000292427;ENST00000517471;ENST00000377675	T;T;T	0.75050	-0.86;2.16;-0.9	2.96	-0.349	0.12609	.	0.680705	0.11955	N	0.513349	T	0.65249	0.2673	L	0.60455	1.87	0.18873	N	0.999985	B;B;P	0.42620	0.07;0.09;0.785	B;B;B	0.42522	0.061;0.078;0.39	T	0.53201	-0.8472	10	0.25106	T	0.35	.	3.4661	0.07550	0.0:0.4961:0.2177:0.2862	.	46;46;46	Q4VAR0;Q4VAQ9;P15538	.;.;C11B1_HUMAN	S	46	ENSP00000292427:G46S;ENSP00000428043:G46S;ENSP00000366903:G46S	ENSP00000292427:G46S	G	-	1	0	CYP11B1	143958096	0.001000	0.12720	0.000000	0.03702	0.465000	0.32709	-0.008000	0.12788	-0.259000	0.09432	0.305000	0.20034	GGC		PASS	0.632	CYP11B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379475.2			77	40	77	40	---	---	---	---
SH3GL2	6456	broad.mit.edu	37	9	17789429	17789429	+	Missense_Mutation	SNP	G	G	A			TCGA-66-2766-01A-01D-1522-08	TCGA-66-2766-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	452b75d0-1818-46aa-8804-9cfc0bd66449	81a4d615-e95e-4c17-87f7-c06d8dd4975a	g.chr9:17789429G>A	ENST00000380607.4	+	6	625	c.505G>A	c.(505-507)Gat>Aat	p.D169N	SH3GL2_ENST00000537391.1_Missense_Mutation_p.D122N	NM_003026.2	NP_003017.1	Q99962	SH3G2_HUMAN	SH3-domain GRB2-like 2	169	BAR. {ECO:0000255|PROSITE- ProRule:PRU00361}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|axon guidance (GO:0007411)|central nervous system development (GO:0007417)|epidermal growth factor receptor signaling pathway (GO:0007173)|membrane organization (GO:0061024)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|neurotrophin TRK receptor signaling pathway (GO:0048011)|post-Golgi vesicle-mediated transport (GO:0006892)|regulation of receptor internalization (GO:0002090)|signal transduction (GO:0007165)|synaptic vesicle endocytosis (GO:0048488)	clathrin-coated endocytic vesicle membrane (GO:0030669)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|plasma membrane (GO:0005886)	identical protein binding (GO:0042802)|lipid binding (GO:0008289)	p.D169N(1)		NS(1)|breast(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(11)|skin(3)|upper_aerodigestive_tract(1)	26				GBM - Glioblastoma multiforme(50;2.71e-10)|Lung(42;0.203)		CCTGGATTTTGATTATAAGAA	0.423																																						uc003zna.2																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(505-507)GAT>AAT		SH3-domain GRB2-like 2							94.0	99.0	98.0					9																	17789429		2203	4300	6503	SO:0001583	missense	6456				axon guidance|central nervous system development|endocytosis|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|post-Golgi vesicle-mediated transport	cytosol|Golgi membrane|plasma membrane	identical protein binding|lipid binding	g.chr9:17789429G>A	X99657	CCDS6483.1	9p22	2008-02-05			ENSG00000107295	ENSG00000107295			10831	protein-coding gene	gene with protein product		604465				9169142	Standard	XM_005251549		Approved	SH3P4, SH3D2A, CNSA2, EEN-B1	uc003zna.3	Q99962	OTTHUMG00000019601	ENST00000380607.4:c.505G>A	9.37:g.17789429G>A	ENSP00000369981:p.Asp169Asn					SH3GL2_uc011lmx.1_Missense_Mutation_p.D134N|SH3GL2_uc011lmy.1_Missense_Mutation_p.D122N	p.D169N	NM_003026	NP_003017	Q99962	SH3G2_HUMAN		GBM - Glioblastoma multiforme(50;2.71e-10)|Lung(42;0.203)	6	793	+			169			BAR.		B2R618|Q9NQK5	Missense_Mutation	SNP	ENST00000380607.4	37	c.505G>A	CCDS6483.1	.	.	.	.	.	.	.	.	.	.	G	36	5.729432	0.96856	.	.	ENSG00000107295	ENST00000397481;ENST00000380607;ENST00000537391	D;D	0.83591	-1.74;-1.74	5.99	5.99	0.97316	BAR (3);	0.000000	0.85682	D	0.000000	D	0.93667	0.7977	M	0.92604	3.325	0.80722	D	1	D;D	0.63046	0.992;0.992	D;D	0.75020	0.985;0.985	D	0.94148	0.7403	10	0.87932	D	0	.	20.4777	0.99188	0.0:0.0:1.0:0.0	.	134;169	B7Z7W3;Q99962	.;SH3G2_HUMAN	N	147;169;122	ENSP00000369981:D169N;ENSP00000443365:D122N	ENSP00000369981:D169N	D	+	1	0	SH3GL2	17779429	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.799000	0.99117	2.840000	0.97914	0.655000	0.94253	GAT		PASS	0.423	SH3GL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051796.1	NM_003026		68	38	68	38	---	---	---	---
SLC24A2	25769	broad.mit.edu	37	9	19786693	19786693	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2766-01A-01D-1522-08	TCGA-66-2766-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	452b75d0-1818-46aa-8804-9cfc0bd66449	81a4d615-e95e-4c17-87f7-c06d8dd4975a	g.chr9:19786693C>A	ENST00000341998.2	-	1	233	c.172G>T	c.(172-174)Gcc>Tcc	p.A58S	SLC24A2_ENST00000286344.3_Missense_Mutation_p.A58S	NM_001193288.2|NM_020344.3	NP_001180217.1|NP_065077.1	Q9UI40	NCKX2_HUMAN	solute carrier family 24 (sodium/potassium/calcium exchanger), member 2	58					cellular calcium ion homeostasis (GO:0006874)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|learning (GO:0007612)|long term synaptic depression (GO:0060292)|long-term synaptic potentiation (GO:0060291)|memory (GO:0007613)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)|intrinsic component of plasma membrane (GO:0031226)|plasma membrane (GO:0005886)	cadmium ion binding (GO:0046870)|calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium, potassium:sodium antiporter activity (GO:0008273)|manganese ion binding (GO:0030145)|nickel cation binding (GO:0016151)|potassium ion binding (GO:0030955)|sodium ion binding (GO:0031402)|symporter activity (GO:0015293)	p.A58S(1)		endometrium(3)|kidney(1)|large_intestine(9)|lung(13)|ovary(3)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	33				GBM - Glioblastoma multiforme(1;1.67e-55)|Lung(42;0.0443)		TCAGAAAAGGCACTGATTGAA	0.428																																						uc003zoa.1																			1	Substitution - Missense(1)		lung(1)	ovary(3)	3						c.(172-174)GCC>TCC		solute carrier family 24							103.0	104.0	104.0					9																	19786693		2203	4300	6503	SO:0001583	missense	25769				visual perception	integral to membrane|plasma membrane	calcium, potassium:sodium antiporter activity|symporter activity	g.chr9:19786693C>A	AF097366	CCDS6493.1, CCDS55297.1	9p22.1	2013-05-22			ENSG00000155886	ENSG00000155886		"""Solute carriers"""	10976	protein-coding gene	gene with protein product		609838				10662833	Standard	NM_020344		Approved	NCKX2	uc003zoa.2	Q9UI40	OTTHUMG00000019646	ENST00000341998.2:c.172G>T	9.37:g.19786693C>A	ENSP00000344801:p.Ala58Ser					SLC24A2_uc003zob.1_Missense_Mutation_p.A58S	p.A58S	NM_020344	NP_065077	Q9UI40	NCKX2_HUMAN		GBM - Glioblastoma multiforme(1;1.67e-55)|Lung(42;0.0443)	1	234	-			58					B7ZLL8|Q9NTN5|Q9NZQ4	Missense_Mutation	SNP	ENST00000341998.2	37	c.172G>T	CCDS6493.1	.	.	.	.	.	.	.	.	.	.	C	14.80	2.643025	0.47153	.	.	ENSG00000155886	ENST00000341998;ENST00000286344	T;T	0.77229	-1.06;-1.08	5.7	4.79	0.61399	.	0.239692	0.41823	D	0.000818	T	0.73241	0.3562	L	0.49126	1.545	0.54753	D	0.999985	B;B	0.19073	0.005;0.033	B;B	0.20184	0.028;0.021	T	0.67703	-0.5602	9	.	.	.	.	16.7467	0.85474	0.0:0.8707:0.1293:0.0	.	58;58	Q9UI40-2;Q9UI40	.;NCKX2_HUMAN	S	58	ENSP00000344801:A58S;ENSP00000286344:A58S	.	A	-	1	0	SLC24A2	19776693	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	7.072000	0.76777	1.387000	0.46486	0.655000	0.94253	GCC		PASS	0.428	SLC24A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051866.2	NM_020344		116	49	116	49	---	---	---	---
TLN1	7094	broad.mit.edu	37	9	35699040	35699040	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2766-01A-01D-1522-08	TCGA-66-2766-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	452b75d0-1818-46aa-8804-9cfc0bd66449	81a4d615-e95e-4c17-87f7-c06d8dd4975a	g.chr9:35699040C>G	ENST00000314888.9	-	52	7341	c.6988G>C	c.(6988-6990)Gcc>Ccc	p.A2330P	TLN1_ENST00000540444.1_Missense_Mutation_p.A2218P	NM_006289.3	NP_006280.3	Q9Y490	TLN1_HUMAN	talin 1	2330	I/LWEQ. {ECO:0000255|PROSITE- ProRule:PRU00292}.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell-cell junction assembly (GO:0007043)|cell-substrate junction assembly (GO:0007044)|cellular component movement (GO:0006928)|cellular protein metabolic process (GO:0044267)|cortical actin cytoskeleton organization (GO:0030866)|cytoskeletal anchoring at plasma membrane (GO:0007016)|endoplasmic reticulum unfolded protein response (GO:0030968)|muscle contraction (GO:0006936)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)	actin cytoskeleton (GO:0015629)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|microtubule organizing center (GO:0005815)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	integrin binding (GO:0005178)|LIM domain binding (GO:0030274)|structural constituent of cytoskeleton (GO:0005200)|vinculin binding (GO:0017166)	p.A2330P(1)		NS(2)|breast(8)|central_nervous_system(2)|endometrium(10)|kidney(5)|large_intestine(9)|lung(32)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(6)	85	all_epithelial(49;0.167)		Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			TTGGGTTTGGCCCGGGGCTTC	0.572																																						uc003zxt.2																			1	Substitution - Missense(1)		lung(1)	lung(7)|breast(3)|ovary(2)|central_nervous_system(1)	13						c.(6988-6990)GCC>CCC		talin 1							93.0	83.0	86.0					9																	35699040		2203	4299	6502	SO:0001583	missense	7094				axon guidance|cell adhesion|cell-cell junction assembly|cellular component movement|cytoskeletal anchoring at plasma membrane|muscle contraction|platelet activation|platelet degranulation	actin cytoskeleton|centrosome|cytosol|extracellular region|focal adhesion|intracellular membrane-bounded organelle|ruffle membrane	actin binding|insulin receptor binding|LIM domain binding|structural constituent of cytoskeleton|vinculin binding	g.chr9:35699040C>G	AB028950	CCDS35009.1	9p23-p21	2008-02-05			ENSG00000137076	ENSG00000137076			11845	protein-coding gene	gene with protein product		186745		TLN		7635475, 10610730	Standard	NM_006289		Approved	ILWEQ	uc003zxt.2	Q9Y490	OTTHUMG00000019874	ENST00000314888.9:c.6988G>C	9.37:g.35699040C>G	ENSP00000316029:p.Ala2330Pro						p.A2330P	NM_006289	NP_006280	Q9Y490	TLN1_HUMAN	Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)		52	7342	-	all_epithelial(49;0.167)		2330			I/LWEQ.		A6NMY0|Q86YD0|Q9NZQ2|Q9UHH8|Q9UPX3	Missense_Mutation	SNP	ENST00000314888.9	37	c.6988G>C	CCDS35009.1	.	.	.	.	.	.	.	.	.	.	C	18.06	3.539086	0.65085	.	.	ENSG00000137076	ENST00000314888;ENST00000540444	T;T	0.29917	1.55;1.55	5.81	5.81	0.92471	I/LWEQ (1);	0.107293	0.64402	D	0.000004	T	0.16041	0.0386	N	0.01649	-0.78	0.58432	D	0.999999	B	0.22276	0.067	B	0.26094	0.066	T	0.19943	-1.0290	10	0.30854	T	0.27	-15.5772	19.683	0.95971	0.0:1.0:0.0:0.0	.	2330	Q9Y490	TLN1_HUMAN	P	2330;2218	ENSP00000316029:A2330P;ENSP00000442981:A2218P	ENSP00000316029:A2330P	A	-	1	0	TLN1	35689040	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	6.001000	0.70685	2.738000	0.93877	0.655000	0.94253	GCC		PASS	0.572	TLN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052353.2	NM_006289		31	48	31	48	---	---	---	---
GNE	10020	broad.mit.edu	37	9	36223384	36223384	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2766-01A-01D-1522-08	TCGA-66-2766-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	452b75d0-1818-46aa-8804-9cfc0bd66449	81a4d615-e95e-4c17-87f7-c06d8dd4975a	g.chr9:36223384C>T	ENST00000539815.1	-	7	1437	c.1397G>A	c.(1396-1398)aGa>aAa	p.R466K	GNE_ENST00000377902.5_Missense_Mutation_p.R466K|GNE_ENST00000539208.1_Missense_Mutation_p.R356K|GNE_ENST00000447283.2_Missense_Mutation_p.R466K|GNE_ENST00000543356.2_Missense_Mutation_p.R461K|GNE_ENST00000396594.3_Missense_Mutation_p.R497K			Q9Y223	GLCNE_HUMAN	glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase	466	N-acetylmannosamine kinase.				carbohydrate phosphorylation (GO:0046835)|cell adhesion (GO:0007155)|N-acetylglucosamine biosynthetic process (GO:0006045)|N-acetylneuraminate metabolic process (GO:0006054)|UDP-N-acetylglucosamine metabolic process (GO:0006047)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	ATP binding (GO:0005524)|hydrolase activity, hydrolyzing O-glycosyl compounds (GO:0004553)|metal ion binding (GO:0046872)|N-acylmannosamine kinase activity (GO:0009384)|UDP-N-acetylglucosamine 2-epimerase activity (GO:0008761)	p.R497K(1)|p.R461K(1)|p.R466K(1)		endometrium(8)|kidney(1)|large_intestine(3)|lung(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	19			STAD - Stomach adenocarcinoma(86;0.228)			TCCCAAAATTCTGCAGTTCAG	0.348																																					GBM(184;106 2118 20004 35750 50727)	uc010mlh.2																			3	Substitution - Missense(3)		lung(3)		0						c.(1396-1398)AGA>AAA		UDP-N-acetylglucosamine-2-epimerase/N-							106.0	109.0	108.0					9																	36223384		2202	4299	6501	SO:0001583	missense	10020				cell adhesion|lipopolysaccharide biosynthetic process|N-acetylneuraminate metabolic process|UDP-N-acetylglucosamine metabolic process		ATP binding|N-acylmannosamine kinase activity|UDP-N-acetylglucosamine 2-epimerase activity	g.chr9:36223384C>T	AF051852	CCDS6602.1, CCDS47965.1, CCDS55308.1, CCDS55309.1, CCDS55310.1	9p13.1	2008-02-05	2003-12-01		ENSG00000159921	ENSG00000159921			23657	protein-coding gene	gene with protein product		603824	"""UDP-N-acetylglucosamine-2-epimerase/N-acetylmannosamine kinase"""	IBM2		9305887, 9305888	Standard	NM_005476		Approved	Uae1	uc010mli.3	Q9Y223	OTTHUMG00000019899	ENST00000539815.1:c.1397G>A	9.37:g.36223384C>T	ENSP00000439155:p.Arg466Lys					CLTA_uc003zzf.1_Intron|GNE_uc010mlg.2_Missense_Mutation_p.R466K|GNE_uc011lpl.1_Missense_Mutation_p.R356K|GNE_uc010mli.2_Missense_Mutation_p.R497K|GNE_uc010mlj.2_Missense_Mutation_p.R461K	p.R466K	NM_005476	NP_005467	Q9Y223	GLCNE_HUMAN	STAD - Stomach adenocarcinoma(86;0.228)		8	1612	-			466			UDP-N-acetylglucosamine 2-epimerase.|N-acetylmannosamine kinase.		A6PZH2|A6PZH3|A7UNU7|B2R6E1|B7Z372|B7Z428|D3DRP7|F5H499|H0YFA7|Q0VA94	Missense_Mutation	SNP	ENST00000539815.1	37	c.1397G>A	CCDS6602.1	.	.	.	.	.	.	.	.	.	.	C	32	5.192269	0.94960	.	.	ENSG00000159921	ENST00000377902;ENST00000396594;ENST00000339267;ENST00000539815;ENST00000543356;ENST00000539208;ENST00000447283	D;D;D;D;D	0.98012	-4.66;-4.66;-4.66;-4.66;-4.0	5.68	5.68	0.88126	.	0.000000	0.85682	D	0.000000	D	0.97714	0.9250	L	0.41632	1.29	0.80722	D	1	P;D;D;D;D	0.57257	0.928;0.971;0.971;0.977;0.979	P;P;P;P;D	0.71414	0.452;0.647;0.647;0.76;0.973	D	0.96731	0.9539	10	0.27785	T	0.31	-11.2898	17.6486	0.88155	0.0:1.0:0.0:0.0	.	356;425;497;466;466	F5H499;Q9Y223-3;Q9Y223-2;Q9Y223;A7UNU7	.;.;.;GLCNE_HUMAN;.	K	466;497;461;466;438;356;466	ENSP00000367134:R466K;ENSP00000379839:R497K;ENSP00000439155:R466K;ENSP00000445117:R356K;ENSP00000414760:R466K	ENSP00000340770:R461K	R	-	2	0	GNE	36213384	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.039000	0.76544	2.847000	0.97988	0.591000	0.81541	AGA		PASS	0.348	GNE-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052412.4	NM_005476		95	40	95	40	---	---	---	---
TRPM6	140803	broad.mit.edu	37	9	77397632	77397632	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2766-01A-01D-1522-08	TCGA-66-2766-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	452b75d0-1818-46aa-8804-9cfc0bd66449	81a4d615-e95e-4c17-87f7-c06d8dd4975a	g.chr9:77397632C>A	ENST00000360774.1	-	22	3294	c.3057G>T	c.(3055-3057)tgG>tgT	p.W1019C	TRPM6_ENST00000376872.3_Intron|TRPM6_ENST00000449912.2_Missense_Mutation_p.W1014C|TRPM6_ENST00000451710.3_Missense_Mutation_p.W1019C|TRPM6_ENST00000376871.3_Intron|TRPM6_ENST00000361255.3_Missense_Mutation_p.W1014C|TRPM6_ENST00000376864.4_Missense_Mutation_p.W1019C	NM_017662.4	NP_060132.3	Q9BX84	TRPM6_HUMAN	transient receptor potential cation channel, subfamily M, member 6	1019					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.W1019C(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						CGTATATCATCCAGTATGGCT	0.438																																						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.(3055-3057)TGG>TGT		transient receptor potential cation channel,							146.0	124.0	132.0					9																	77397632		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.chr9:77397632C>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.3057G>T	9.37:g.77397632C>A	ENSP00000354006:p.Trp1019Cys					TRPM6_uc004ajk.1_Missense_Mutation_p.W1014C|TRPM6_uc010mpb.1_RNA|TRPM6_uc010mpc.1_Intron|TRPM6_uc010mpd.1_Intron|TRPM6_uc010mpe.1_Intron|TRPM6_uc004ajm.1_Missense_Mutation_p.W305C	p.W1019C	NM_017662	NP_060132	Q9BX84	TRPM6_HUMAN			22	3295	-			1019					Q6VPR8|Q6VPR9|Q6VPS0|Q6VPS1|Q6VPS2	Missense_Mutation	SNP	ENST00000360774.1	37	c.3057G>T	CCDS6647.1	.	.	.	.	.	.	.	.	.	.	C	20.7	4.036182	0.75617	.	.	ENSG00000119121	ENST00000360774;ENST00000451710;ENST00000449912;ENST00000361255;ENST00000376864;ENST00000312449;ENST00000448641	T;T;T;T;T	0.60424	0.27;0.26;0.27;0.27;0.19	5.92	5.92	0.95590	Ion transport (1);	0.000000	0.85682	D	0.000000	T	0.81602	0.4857	M	0.88570	2.965	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.998;0.998;0.995	D	0.83818	0.0245	10	0.87932	D	0	.	20.3207	0.98668	0.0:1.0:0.0:0.0	.	682;1019;1014	F5H7D1;Q9BX84;Q9BX84-3	.;TRPM6_HUMAN;.	C	1019;1019;1014;1014;1019;682;682	ENSP00000354006:W1019C;ENSP00000407341:W1019C;ENSP00000396672:W1014C;ENSP00000354962:W1014C;ENSP00000366060:W1019C	ENSP00000309693:W682C	W	-	3	0	TRPM6	76587452	1.000000	0.71417	1.000000	0.80357	0.629000	0.37895	7.771000	0.85420	2.813000	0.96785	0.561000	0.74099	TGG		PASS	0.438	TRPM6-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000052693.1	NM_017662		4	188	4	188	---	---	---	---
PRUNE2	158471	broad.mit.edu	37	9	79325074	79325074	+	Missense_Mutation	SNP	T	T	G			TCGA-66-2766-01A-01D-1522-08	TCGA-66-2766-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	452b75d0-1818-46aa-8804-9cfc0bd66449	81a4d615-e95e-4c17-87f7-c06d8dd4975a	g.chr9:79325074T>G	ENST00000376718.3	-	8	2239	c.2116A>C	c.(2116-2118)Aag>Cag	p.K706Q	PRUNE2_ENST00000428286.1_Missense_Mutation_p.K347Q	NM_015225.2	NP_056040.2	Q8WUY3	PRUN2_HUMAN	prune homolog 2 (Drosophila)	706					apoptotic process (GO:0006915)	cytoplasm (GO:0005737)	metal ion binding (GO:0046872)|pyrophosphatase activity (GO:0016462)	p.K706Q(1)		endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						TCGAGGCTCTTTGGTTGAAAT	0.443																																						uc010mpk.2																			1	Substitution - Missense(1)		lung(1)		0						c.(2116-2118)AAG>CAG		prune homolog 2							45.0	42.0	43.0					9																	79325074		1568	3582	5150	SO:0001583	missense	158471				apoptosis|G1 phase|induction of apoptosis	cytoplasm	metal ion binding|pyrophosphatase activity	g.chr9:79325074T>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.2116A>C	9.37:g.79325074T>G	ENSP00000365908:p.Lys706Gln						p.K706Q	NM_015225	NP_056040	Q8WUY3	PRUN2_HUMAN			8	2240	-			706					B3KYC4|B4DQH8|O15073|Q58A63|Q5JUB6|Q5T304|Q5T476|Q6T2V6|Q6T2V7|Q8N665	Missense_Mutation	SNP	ENST00000376718.3	37	c.2116A>C	CCDS47982.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	11.74|11.74	1.729838|1.729838	0.30684|0.30684	.|.	.|.	ENSG00000106772|ENSG00000106772	ENST00000376718;ENST00000428286;ENST00000422033|ENST00000426088	T;T|.	0.23348|.	1.91;1.91|.	5.86|5.86	4.69|4.69	0.59074|0.59074	.|.	0.394121|0.394121	0.21561|0.21561	N|N	0.072580|0.072580	T|T	0.44561|0.44561	0.1299|0.1299	M|M	0.63428|0.63428	1.95|1.95	0.09310|0.09310	N|N	1|1	D|.	0.76494|.	0.999|.	P|.	0.58520|.	0.84|.	T|T	0.39333|0.39333	-0.9619|-0.9619	10|6	0.87932|.	D|.	0|.	-12.9972|-12.9972	6.1985|6.1985	0.20563|0.20563	0.0:0.1108:0.2752:0.614|0.0:0.1108:0.2752:0.614	.|.	706|.	Q8WUY3|.	PRUN2_HUMAN|.	Q|T	706;347;705|27	ENSP00000365908:K706Q;ENSP00000397425:K347Q|.	ENSP00000365908:K706Q|.	K|K	-|-	1|2	0|0	PRUNE2|PRUNE2	78514894|78514894	0.395000|0.395000	0.25254|0.25254	0.672000|0.672000	0.29872|0.29872	0.626000|0.626000	0.37791|0.37791	1.092000|1.092000	0.30927|0.30927	1.011000|1.011000	0.39340|0.39340	0.533000|0.533000	0.62120|0.62120	AAG|AAA		PASS	0.443	PRUNE2-003	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052730.2	NM_138818		25	46	25	46	---	---	---	---
SYK	6850	broad.mit.edu	37	9	93636955	93636955	+	Splice_Site	SNP	C	C	A			TCGA-66-2766-01A-01D-1522-08	TCGA-66-2766-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	452b75d0-1818-46aa-8804-9cfc0bd66449	81a4d615-e95e-4c17-87f7-c06d8dd4975a	g.chr9:93636955C>A	ENST00000375754.4	+	9	1153	c.1005C>A	c.(1003-1005)ggC>ggA	p.G335G	SYK_ENST00000375751.4_Splice_Site_p.G312G|SYK_ENST00000375746.1_Splice_Site_p.G335G|SYK_ENST00000375747.1_Splice_Site_p.G312G	NM_003177.5	NP_003168.2	P43405	KSYK_HUMAN	spleen tyrosine kinase	335	Interdomain B.				activation of JUN kinase activity (GO:0007257)|adaptive immune response (GO:0002250)|angiogenesis (GO:0001525)|B cell receptor signaling pathway (GO:0050853)|beta selection (GO:0043366)|blood coagulation (GO:0007596)|blood vessel morphogenesis (GO:0048514)|cell proliferation (GO:0008283)|cellular response to molecule of fungal origin (GO:0071226)|defense response to bacterium (GO:0042742)|enzyme linked receptor protein signaling pathway (GO:0007167)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|leukocyte activation involved in immune response (GO:0002366)|leukocyte cell-cell adhesion (GO:0007159)|leukotriene biosynthetic process (GO:0019370)|lymph vessel development (GO:0001945)|macrophage activation involved in immune response (GO:0002281)|neutrophil activation involved in immune response (GO:0002283)|neutrophil chemotaxis (GO:0030593)|organ morphogenesis (GO:0009887)|platelet activation (GO:0030168)|positive regulation of alpha-beta T cell differentiation (GO:0046638)|positive regulation of alpha-beta T cell proliferation (GO:0046641)|positive regulation of B cell differentiation (GO:0045579)|positive regulation of bone resorption (GO:0045780)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of cell adhesion mediated by integrin (GO:0033630)|positive regulation of cytokine secretion (GO:0050715)|positive regulation of gamma-delta T cell differentiation (GO:0045588)|positive regulation of granulocyte macrophage colony-stimulating factor biosynthetic process (GO:0045425)|positive regulation of interleukin-3 biosynthetic process (GO:0045401)|positive regulation of mast cell degranulation (GO:0043306)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of arachidonic acid secretion (GO:0090237)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of neutrophil degranulation (GO:0043313)|regulation of phagocytosis (GO:0050764)|regulation of platelet activation (GO:0010543)|regulation of platelet aggregation (GO:0090330)|regulation of superoxide anion generation (GO:0032928)|serotonin secretion by platelet (GO:0002554)|viral process (GO:0016032)	B cell receptor complex (GO:0019815)|cytosol (GO:0005829)|early phagosome (GO:0032009)|plasma membrane (GO:0005886)|T cell receptor complex (GO:0042101)	ATP binding (GO:0005524)|integrin binding (GO:0005178)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein kinase activity (GO:0004672)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)	p.G335G(1)|p.G312G(1)		breast(2)|endometrium(1)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|prostate(3)|skin(2)|stomach(2)	26						GCATTGCAGGCCCCCAGAGAG	0.552			T	"""ETV6, ITK"""	"""MDS, peripheral T-cell lymphoma"""																																	uc004aqz.2				Dom	yes		9	9q22	6850	T	spleen tyrosine kinase			L	ETV6|ITK		MDS|peripheral T-cell lymphoma		2	Substitution - coding silent(2)		lung(2)	lung(2)|stomach(1)|ovary(1)|skin(1)	5						c.(1003-1005)GGC>GGA		spleen tyrosine kinase isoform 1							136.0	147.0	143.0					9																	93636955		2203	4300	6503	SO:0001630	splice_region_variant	6850				cell proliferation|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte cell-cell adhesion|neutrophil chemotaxis|organ morphogenesis|platelet activation|protein complex assembly	cytosol|T cell receptor complex	ATP binding|integrin binding|non-membrane spanning protein tyrosine kinase activity	g.chr9:93636955C>A	L28824	CCDS6688.1, CCDS47992.1	9q22	2013-02-14			ENSG00000165025	ENSG00000165025		"""SH2 domain containing"""	11491	protein-coding gene	gene with protein product		600085				8082894, 1423621	Standard	XM_005252147		Approved		uc004aqz.3	P43405	OTTHUMG00000020200	ENST00000375754.4:c.1004-1C>A	9.37:g.93636955C>A						SYK_uc004ara.2_Silent_p.G312G|SYK_uc004arb.2_Silent_p.G312G|SYK_uc004arc.2_Silent_p.G335G|SYK_uc011ltr.1_RNA|SYK_uc011lts.1_RNA|SYK_uc011ltt.1_RNA	p.G335G	NM_003177	NP_003168	P43405	KSYK_HUMAN			9	1210	+			335			Linker.			Silent	SNP	ENST00000375754.4	37	c.1005C>A	CCDS6688.1																																																																																				PASS	0.552	SYK-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000053018.1		Silent	6	410	6	410	---	---	---	---
ALDOB	229	broad.mit.edu	37	9	104192152	104192152	+	Missense_Mutation	SNP	A	A	G			TCGA-66-2766-01A-01D-1522-08	TCGA-66-2766-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	452b75d0-1818-46aa-8804-9cfc0bd66449	81a4d615-e95e-4c17-87f7-c06d8dd4975a	g.chr9:104192152A>G	ENST00000374855.4	-	3	333	c.209T>C	c.(208-210)aTc>aCc	p.I70T	ALDOB_ENST00000468981.3_5'UTR	NM_000035.3	NP_000026.2	P05062	ALDOB_HUMAN	aldolase B, fructose-bisphosphate	70					carbohydrate metabolic process (GO:0005975)|fructose 1,6-bisphosphate metabolic process (GO:0030388)|fructose catabolic process (GO:0006001)|fructose metabolic process (GO:0006000)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|NADH oxidation (GO:0006116)|positive regulation of ATPase activity (GO:0032781)|small molecule metabolic process (GO:0044281)|vacuolar proton-transporting V-type ATPase complex assembly (GO:0070072)	centriolar satellite (GO:0034451)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|microtubule organizing center (GO:0005815)	ATPase binding (GO:0051117)|cytoskeletal protein binding (GO:0008092)|fructose binding (GO:0070061)|fructose-1-phosphate aldolase activity (GO:0061609)|fructose-bisphosphate aldolase activity (GO:0004332)|identical protein binding (GO:0042802)	p.I70T(1)		central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|liver(1)|lung(5)|prostate(2)|skin(4)|urinary_tract(1)	24		Acute lymphoblastic leukemia(62;0.0559)				GCTCTGGTTGATGGAACTGTC	0.527																																						uc004bbk.2																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(208-210)ATC>ACC		aldolase B, fructose-bisphosphate							165.0	156.0	159.0					9																	104192152		2203	4300	6503	SO:0001583	missense	229				fructose 1,6-bisphosphate metabolic process|fructose catabolic process|gluconeogenesis|glycolysis|NADH oxidation|positive regulation of ATPase activity|vacuolar proton-transporting V-type ATPase complex assembly	centriolar satellite|cytosol	ATPase binding|cytoskeletal protein binding|fructose binding|fructose-bisphosphate aldolase activity|identical protein binding	g.chr9:104192152A>G	X01098	CCDS6756.1	9q21.3-q22.2	2008-02-05			ENSG00000136872	ENSG00000136872	4.1.2.13		417	protein-coding gene	gene with protein product		612724					Standard	NM_000035		Approved		uc004bbk.2	P05062	OTTHUMG00000020378	ENST00000374855.4:c.209T>C	9.37:g.104192152A>G	ENSP00000363988:p.Ile70Thr						p.I70T	NM_000035	NP_000026	P05062	ALDOB_HUMAN			3	291	-		Acute lymphoblastic leukemia(62;0.0559)	70					Q13741|Q13742|Q5T7D6	Missense_Mutation	SNP	ENST00000374855.4	37	c.209T>C	CCDS6756.1	.	.	.	.	.	.	.	.	.	.	A	24.9	4.585482	0.86748	.	.	ENSG00000136872	ENST00000374855;ENST00000430164	D	0.86097	-2.07	5.94	5.94	0.96194	Aldolase-type TIM barrel (1);	0.195058	0.52532	D	0.000069	D	0.93223	0.7841	M	0.70903	2.155	0.80722	D	1	B	0.24576	0.106	P	0.59546	0.859	D	0.92165	0.5739	10	0.72032	D	0.01	-5.6283	15.5887	0.76506	1.0:0.0:0.0:0.0	.	70	P05062	ALDOB_HUMAN	T	70	ENSP00000363988:I70T	ENSP00000363988:I70T	I	-	2	0	ALDOB	103231973	1.000000	0.71417	0.846000	0.33378	0.964000	0.63967	9.339000	0.96797	2.275000	0.75901	0.528000	0.53228	ATC		PASS	0.527	ALDOB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053434.2			84	265	84	265	---	---	---	---
FKTN	2218	broad.mit.edu	37	9	108397528	108397528	+	Missense_Mutation	SNP	G	G	A			TCGA-66-2766-01A-01D-1522-08	TCGA-66-2766-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	452b75d0-1818-46aa-8804-9cfc0bd66449	81a4d615-e95e-4c17-87f7-c06d8dd4975a	g.chr9:108397528G>A	ENST00000223528.2	+	10	1493	c.1369G>A	c.(1369-1371)Gtt>Att	p.V457I	FKTN_ENST00000357998.5_Intron|FKTN_ENST00000602661.1_Missense_Mutation_p.V457I|FKTN_ENST00000448551.2_Intron|FKTN_ENST00000540160.1_3'UTR	NM_006731.2	NP_006722.2	O75072	FKTN_HUMAN	fukutin	457					muscle organ development (GO:0007517)|negative regulation of cell proliferation (GO:0008285)|negative regulation of JNK cascade (GO:0046329)|nervous system development (GO:0007399)|regulation of protein glycosylation (GO:0060049)	cis-Golgi network (GO:0005801)|endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	transferase activity (GO:0016740)	p.V457I(1)		breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	25						GTGGGATGAGGTTATCCAGTT	0.398																																						uc004bcr.2																			1	Substitution - Missense(1)		lung(1)	breast(2)|ovary(1)	3						c.(1369-1371)GTT>ATT		fukutin							126.0	118.0	121.0					9																	108397528		2203	4300	6503	SO:0001583	missense	2218				muscle organ development|negative regulation of cell proliferation|negative regulation of JNK cascade|nervous system development|regulation of protein glycosylation	cis-Golgi network|endoplasmic reticulum|extracellular space|Golgi membrane|integral to membrane|nucleus	transferase activity	g.chr9:108397528G>A		CCDS6766.1	9q31-q33	2014-09-17	2007-11-21	2007-11-21	ENSG00000106692	ENSG00000106692			3622	protein-coding gene	gene with protein product		607440	"""Fukuyama type congenital muscular dystrophy (fukutin)"""	FCMD		8275093, 17036286, 17044012	Standard	NM_001079802		Approved	LGMD2M	uc004bcs.3	O75072	OTTHUMG00000020425	ENST00000223528.2:c.1369G>A	9.37:g.108397528G>A	ENSP00000223528:p.Val457Ile					FKTN_uc011lvx.1_Intron|FKTN_uc004bcs.2_Missense_Mutation_p.V457I|FKTN_uc011lvy.1_3'UTR|FKTN_uc010mtm.2_Missense_Mutation_p.V325I	p.V457I	NM_001079802	NP_001073270	O75072	FKTN_HUMAN			11	1585	+			457			Lumenal (Potential).		B4DUX9|J3KP13|Q3MIJ1|Q96TE1|Q9P295	Missense_Mutation	SNP	ENST00000223528.2	37	c.1369G>A	CCDS6766.1	.	.	.	.	.	.	.	.	.	.	G	27.4	4.828287	0.90955	.	.	ENSG00000106692	ENST00000223528	T	0.46063	0.88	6.04	6.04	0.98038	.	0.054252	0.64402	D	0.000001	T	0.61211	0.2329	M	0.77103	2.36	0.80722	D	1	D	0.59767	0.986	P	0.53450	0.726	T	0.64019	-0.6505	10	0.72032	D	0.01	-14.8066	19.583	0.95478	0.0:0.0:1.0:0.0	.	457	O75072	FKTN_HUMAN	I	457	ENSP00000223528:V457I	ENSP00000223528:V457I	V	+	1	0	FKTN	107437349	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	5.998000	0.70653	2.873000	0.98535	0.563000	0.77884	GTT		PASS	0.398	FKTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053505.1	NM_006731		142	40	142	40	---	---	---	---
KIAA1958	158405	broad.mit.edu	37	9	115421967	115421967	+	Missense_Mutation	SNP	A	A	G	rs143861651		TCGA-66-2766-01A-01D-1522-08	TCGA-66-2766-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	452b75d0-1818-46aa-8804-9cfc0bd66449	81a4d615-e95e-4c17-87f7-c06d8dd4975a	g.chr9:115421967A>G	ENST00000337530.6	+	4	2065	c.1769A>G	c.(1768-1770)cAa>cGa	p.Q590R	KIAA1958_ENST00000536272.1_Missense_Mutation_p.Q618R	NM_133465.2	NP_597722.1	Q8N8K9	K1958_HUMAN	KIAA1958	590								p.Q590R(1)		endometrium(1)|large_intestine(9)|lung(10)|prostate(2)|skin(3)	25						AAAGACCCCCAAAACCAGCCC	0.577																																						uc004bgf.1																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(1768-1770)CAA>CGA		hypothetical protein LOC158405		A	ARG/GLN	1,4405	2.1+/-5.4	0,1,2202	87.0	82.0	84.0		1769	5.7	0.4	9	dbSNP_134	84	0,8600		0,0,4300	no	missense	KIAA1958	NM_133465.2	43	0,1,6502	GG,GA,AA		0.0,0.0227,0.0077	benign	590/717	115421967	1,13005	2203	4300	6503	SO:0001583	missense	158405							g.chr9:115421967A>G	AB075838	CCDS35108.1, CCDS69642.1	9q33.1	2009-09-22			ENSG00000165185	ENSG00000165185			23427	protein-coding gene	gene with protein product							Standard	NM_001287038		Approved	FLJ39294	uc004bgf.1	Q8N8K9	OTTHUMG00000020508	ENST00000337530.6:c.1769A>G	9.37:g.115421967A>G	ENSP00000336940:p.Gln590Arg					KIAA1958_uc011lwx.1_Missense_Mutation_p.Q618R	p.Q590R	NM_133465	NP_597722	Q8N8K9	K1958_HUMAN			4	1944	+			590					B7ZKW6|Q2M336|Q5T252|Q8TF43|Q96N02	Missense_Mutation	SNP	ENST00000337530.6	37	c.1769A>G	CCDS35108.1	.	.	.	.	.	.	.	.	.	.	A	13.76	2.332153	0.41297	2.27E-4	0.0	ENSG00000165185	ENST00000337530;ENST00000536272	.	.	.	5.66	5.66	0.87406	.	.	.	.	.	T	0.29976	0.0750	N	0.14661	0.345	0.20074	N	0.999935	B;B	0.33777	0.425;0.159	B;B	0.36808	0.233;0.078	T	0.16424	-1.0403	8	0.15499	T	0.54	.	15.5714	0.76341	1.0:0.0:0.0:0.0	.	618;590	B7ZKW6;Q8N8K9	.;K1958_HUMAN	R	590;618	.	ENSP00000336940:Q590R	Q	+	2	0	KIAA1958	114461788	0.970000	0.33590	0.372000	0.25991	0.893000	0.52053	4.590000	0.61013	2.161000	0.67846	0.533000	0.62120	CAA		PASS	0.577	KIAA1958-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000053690.1	NM_133465		13	54	13	54	---	---	---	---
ZBTB6	10773	broad.mit.edu	37	9	125673735	125673735	+	Missense_Mutation	SNP	G	G	C			TCGA-66-2766-01A-01D-1522-08	TCGA-66-2766-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	452b75d0-1818-46aa-8804-9cfc0bd66449	81a4d615-e95e-4c17-87f7-c06d8dd4975a	g.chr9:125673735G>C	ENST00000373659.3	-	2	705	c.617C>G	c.(616-618)tCt>tGt	p.S206C		NM_006626.5	NP_006617.1	Q15916	ZBTB6_HUMAN	zinc finger and BTB domain containing 6	206					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.S206C(1)		breast(3)|endometrium(3)|kidney(1)|large_intestine(2)|lung(1)|skin(1)	11						GTCTACTGTAGACAGCTCTGG	0.393																																						uc004bnh.2																			1	Substitution - Missense(1)		lung(1)		0						c.(616-618)TCT>TGT		zinc finger and BTB domain containing 6							68.0	69.0	69.0					9																	125673735		2203	4300	6503	SO:0001583	missense	10773				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr9:125673735G>C	X82018	CCDS6846.1	9q33.1-q33.3	2013-01-08	2006-04-10	2006-04-10	ENSG00000186130	ENSG00000186130		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	16764	protein-coding gene	gene with protein product		605976	"""zinc finger protein 482"""	ZNF482		7958847	Standard	NM_006626		Approved	ZID	uc004bnh.4	Q15916	OTTHUMG00000020628	ENST00000373659.3:c.617C>G	9.37:g.125673735G>C	ENSP00000362763:p.Ser206Cys						p.S206C	NM_006626	NP_006617	Q15916	ZBTB6_HUMAN			2	706	-			206					A8K8N6	Missense_Mutation	SNP	ENST00000373659.3	37	c.617C>G	CCDS6846.1	.	.	.	.	.	.	.	.	.	.	G	11.17	1.560817	0.27827	.	.	ENSG00000186130	ENST00000373659	T	0.09723	2.95	6.17	6.17	0.99709	.	0.479278	0.22979	N	0.053322	T	0.16896	0.0406	L	0.57536	1.79	0.38551	D	0.949457	B	0.18741	0.03	B	0.18561	0.022	T	0.02109	-1.1212	10	0.49607	T	0.09	.	19.8676	0.96824	0.0:0.0:1.0:0.0	.	206	Q15916	ZBTB6_HUMAN	C	206	ENSP00000362763:S206C	ENSP00000362763:S206C	S	-	2	0	ZBTB6	124713556	1.000000	0.71417	0.826000	0.32828	0.213000	0.24496	6.537000	0.73847	2.941000	0.99782	0.655000	0.94253	TCT		PASS	0.393	ZBTB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053962.1	NM_006626		101	100	101	100	---	---	---	---
SURF4	6836	broad.mit.edu	37	9	136234304	136234304	+	Silent	SNP	C	C	T			TCGA-66-2766-01A-01D-1522-08	TCGA-66-2766-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	452b75d0-1818-46aa-8804-9cfc0bd66449	81a4d615-e95e-4c17-87f7-c06d8dd4975a	g.chr9:136234304C>T	ENST00000371989.3	-	2	195	c.66G>A	c.(64-66)aaG>aaA	p.K22K	SURF4_ENST00000467910.1_5'UTR|SURF4_ENST00000545297.1_Silent_p.K22K|SURF4_ENST00000485435.2_Silent_p.K22K|SURF4_ENST00000371991.3_Silent_p.K22K	NM_001280788.1|NM_001280790.1|NM_001280791.1|NM_033161.2	NP_001267717.1|NP_001267719.1|NP_001267720.1|NP_149351.1	O15260	SURF4_HUMAN	surfeit 4	22					Golgi organization (GO:0007030)|positive regulation of organelle organization (GO:0010638)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)		p.K22K(1)		kidney(1)|large_intestine(2)|lung(5)	8				OV - Ovarian serous cystadenocarcinoma(145;5.32e-07)|Epithelial(140;4.56e-06)|all cancers(34;4.25e-05)		GCAGGTACTGCTTTGTGACAC	0.657																																						uc004cdj.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(64-66)AAG>AAA		surfeit 4							77.0	67.0	70.0					9																	136234304		2203	4300	6503	SO:0001819	synonymous_variant	6836					endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|Golgi membrane|integral to membrane	protein binding	g.chr9:136234304C>T		CCDS6968.1, CCDS65177.1, CCDS65178.1, CCDS75929.1	9q33-q34	2008-07-21			ENSG00000148248	ENSG00000148248			11476	protein-coding gene	gene with protein product	"""surfeit locus protein 4"", ""surface 4 integral membrane protein"""	185660				8499913, 7540914	Standard	NM_033161		Approved	ERV29, FLJ22993, MGC102753	uc004cdj.3	O15260	OTTHUMG00000020868	ENST00000371989.3:c.66G>A	9.37:g.136234304C>T						SURF4_uc011mda.1_Silent_p.K13K|SURF4_uc010nal.2_Silent_p.K54K|SURF4_uc011mdb.1_5'UTR|SURF4_uc011mdc.1_5'UTR|SURF4_uc011mdd.1_Silent_p.K22K	p.K22K	NM_033161	NP_149351	O15260	SURF4_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;5.32e-07)|Epithelial(140;4.56e-06)|all cancers(34;4.25e-05)	2	196	-			22					B7Z6A4|O60923|Q5T8U6|Q9UNZ0|Q9UNZ1	Silent	SNP	ENST00000371989.3	37	c.66G>A	CCDS6968.1																																																																																				PASS	0.657	SURF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054886.1	NM_033161		21	81	21	81	---	---	---	---
SLC2A6	11182	broad.mit.edu	37	9	136338552	136338552	+	Missense_Mutation	SNP	T	T	C			TCGA-66-2766-01A-01D-1522-08	TCGA-66-2766-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	452b75d0-1818-46aa-8804-9cfc0bd66449	81a4d615-e95e-4c17-87f7-c06d8dd4975a	g.chr9:136338552T>C	ENST00000371899.4	-	8	1284	c.1207A>G	c.(1207-1209)Atg>Gtg	p.M403V	SLC2A6_ENST00000371897.4_Intron|SLC2A6_ENST00000485978.1_5'UTR	NM_017585.3	NP_060055.2	Q9UGQ3	GTR6_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 6	403					glucose transport (GO:0015758)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	glucose transmembrane transporter activity (GO:0005355)	p.M403V(1)		cervix(1)|endometrium(1)|large_intestine(1)|lung(3)|prostate(3)|skin(1)	10				OV - Ovarian serous cystadenocarcinoma(145;8.47e-08)|Epithelial(140;9.37e-07)|all cancers(34;1.03e-05)		ATGAAGAGCATGGTGGCCAGC	0.652																																						uc004cee.2																			1	Substitution - Missense(1)		lung(1)		0						c.(1207-1209)ATG>GTG		solute carrier family 2 (facilitated glucose							17.0	18.0	18.0					9																	136338552		2194	4296	6490	SO:0001583	missense	11182					integral to membrane|plasma membrane	D-glucose transmembrane transporter activity	g.chr9:136338552T>C	AJ011372	CCDS6975.1, CCDS48052.1	9q34	2013-05-22			ENSG00000160326	ENSG00000160326		"""Solute carriers"""	11011	protein-coding gene	gene with protein product		606813				10970791	Standard	NM_001145099		Approved	GLUT9, GLUT6, HSA011372	uc004cee.3	Q9UGQ3	OTTHUMG00000020874	ENST00000371899.4:c.1207A>G	9.37:g.136338552T>C	ENSP00000360966:p.Met403Val					SLC2A6_uc004cef.2_Intron|SLC2A6_uc004ceg.2_Missense_Mutation_p.M380V	p.M403V	NM_017585	NP_060055	Q9UGQ3	GTR6_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;8.47e-08)|Epithelial(140;9.37e-07)|all cancers(34;1.03e-05)	8	1302	-			403			Helical; Name=10; (Potential).		A6NNU6|Q5SXD7|Q8NCC2	Missense_Mutation	SNP	ENST00000371899.4	37	c.1207A>G	CCDS6975.1	.	.	.	.	.	.	.	.	.	.	T	11.26	1.585249	0.28268	.	.	ENSG00000160326	ENST00000371899	T	0.74106	-0.81	4.94	4.94	0.65067	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.039728	0.85682	D	0.000000	T	0.49558	0.1564	N	0.02181	-0.65	0.45899	D	0.998749	B	0.22080	0.064	B	0.29176	0.099	T	0.49390	-0.8945	10	0.13470	T	0.59	.	13.7651	0.62990	0.0:0.0:0.0:1.0	.	403	Q9UGQ3	GTR6_HUMAN	V	403	ENSP00000360966:M403V	ENSP00000360966:M403V	M	-	1	0	SLC2A6	135328373	1.000000	0.71417	0.995000	0.50966	0.839000	0.47603	4.008000	0.57103	1.863000	0.54032	0.459000	0.35465	ATG		PASS	0.652	SLC2A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054909.1	NM_017585		11	7	11	7	---	---	---	---
DBH	1621	broad.mit.edu	37	9	136501657	136501657	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2766-01A-01D-1522-08	TCGA-66-2766-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	452b75d0-1818-46aa-8804-9cfc0bd66449	81a4d615-e95e-4c17-87f7-c06d8dd4975a	g.chr9:136501657C>A	ENST00000393056.2	+	1	176	c.164C>A	c.(163-165)cCg>cAg	p.P55Q		NM_000787.3	NP_000778.3	P09172	DOPO_HUMAN	dopamine beta-hydroxylase (dopamine beta-monooxygenase)	55					behavioral response to ethanol (GO:0048149)|blood vessel remodeling (GO:0001974)|catecholamine biosynthetic process (GO:0042423)|cellular nitrogen compound metabolic process (GO:0034641)|cytokine production (GO:0001816)|dopamine catabolic process (GO:0042420)|fear response (GO:0042596)|glucose homeostasis (GO:0042593)|homoiothermy (GO:0042309)|leukocyte mediated immunity (GO:0002443)|leukocyte migration (GO:0050900)|locomotory behavior (GO:0007626)|maternal behavior (GO:0042711)|memory (GO:0007613)|norepinephrine biosynthetic process (GO:0042421)|positive regulation of vasoconstriction (GO:0045907)|regulation of cell proliferation (GO:0042127)|regulation of extrinsic apoptotic signaling pathway (GO:2001236)|response to amphetamine (GO:0001975)|response to pain (GO:0048265)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|secretory granule lumen (GO:0034774)	catalytic activity (GO:0003824)|copper ion binding (GO:0005507)|dopamine beta-monooxygenase activity (GO:0004500)|L-ascorbic acid binding (GO:0031418)	p.P55Q(1)		central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(9)|liver(1)|lung(6)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	36				OV - Ovarian serous cystadenocarcinoma(145;2.33e-07)|Epithelial(140;1.5e-06)|all cancers(34;1.66e-05)	Disulfiram(DB00822)|Dopamine(DB00988)|Propylthiouracil(DB00550)|Vitamin C(DB00126)	CCCCTGGACCCGGAGGGGTCC	0.642																																						uc004cel.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|central_nervous_system(2)	4						c.(163-165)CCG>CAG		dopamine beta hydroxylase precursor	Dopamine(DB00988)|Vitamin C(DB00126)						33.0	32.0	32.0					9																	136501657		2203	4300	6503	SO:0001583	missense	1621				hormone biosynthetic process	chromaffin granule lumen|chromaffin granule membrane|extracellular region|integral to membrane|membrane fraction|soluble fraction|transport vesicle membrane	dopamine beta-monooxygenase activity|L-ascorbic acid binding	g.chr9:136501657C>A	X13256	CCDS6977.2	9q34	2013-06-03			ENSG00000123454	ENSG00000123454	1.14.17.1		2689	protein-coding gene	gene with protein product		609312					Standard	NM_000787		Approved	DBM	uc004cel.3	P09172	OTTHUMG00000020878	ENST00000393056.2:c.164C>A	9.37:g.136501657C>A	ENSP00000376776:p.Pro55Gln						p.P55Q	NM_000787	NP_000778	P09172	DOPO_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;2.33e-07)|Epithelial(140;1.5e-06)|all cancers(34;1.66e-05)	1	173	+			55			Intragranular (Potential).		Q5T381|Q96AG2	Missense_Mutation	SNP	ENST00000393056.2	37	c.164C>A	CCDS6977.2	.	.	.	.	.	.	.	.	.	.	C	18.28	3.589298	0.66105	.	.	ENSG00000123454	ENST00000393056;ENST00000371880;ENST00000263611	T;T	0.48522	0.81;0.88	5.59	5.59	0.84812	.	0.000000	0.85682	D	0.000000	T	0.73713	0.3622	M	0.86028	2.79	0.80722	D	1	D	0.89917	1.0	D	0.79784	0.993	T	0.76884	-0.2794	10	0.62326	D	0.03	-13.4365	19.5846	0.95486	0.0:1.0:0.0:0.0	.	55	P09172	DOPO_HUMAN	Q	55;41;41	ENSP00000376776:P55Q;ENSP00000263611:P41Q	ENSP00000263611:P41Q	P	+	2	0	DBH	135491478	0.999000	0.42202	0.992000	0.48379	0.182000	0.23217	7.368000	0.79567	2.644000	0.89710	0.561000	0.74099	CCG		PASS	0.642	DBH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054929.2	NM_000787		55	10	55	10	---	---	---	---
SARDH	1757	broad.mit.edu	37	9	136573495	136573495	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2766-01A-01D-1522-08	TCGA-66-2766-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	452b75d0-1818-46aa-8804-9cfc0bd66449	81a4d615-e95e-4c17-87f7-c06d8dd4975a	g.chr9:136573495C>G	ENST00000371872.4	-	11	1641	c.1384G>C	c.(1384-1386)Gag>Cag	p.E462Q	SARDH_ENST00000439388.1_Missense_Mutation_p.E462Q|SARDH_ENST00000422262.2_Missense_Mutation_p.E294Q	NM_007101.3	NP_009032.2	Q9UL12	SARDH_HUMAN	sarcosine dehydrogenase	462					glycine catabolic process (GO:0006546)	mitochondrion (GO:0005739)	aminomethyltransferase activity (GO:0004047)|sarcosine dehydrogenase activity (GO:0008480)	p.E462Q(1)		central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(13)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	44				OV - Ovarian serous cystadenocarcinoma(145;3.21e-07)|Epithelial(140;2.37e-06)|all cancers(34;2.75e-05)		GCGTAGGACTCATGGCTTCGC	0.652																																						uc004cep.3																			1	Substitution - Missense(1)		lung(1)		0						c.(1384-1386)GAG>CAG		sarcosine dehydrogenase precursor							97.0	100.0	99.0					9																	136573495		2203	4300	6503	SO:0001583	missense	1757				glycine catabolic process	mitochondrial matrix	aminomethyltransferase activity|sarcosine dehydrogenase activity	g.chr9:136573495C>G		CCDS6978.1	9q33-q34	2008-02-05			ENSG00000123453	ENSG00000123453	1.5.99.2		10536	protein-coding gene	gene with protein product		604455		DMGDHL1		10444331	Standard	NM_007101		Approved	SDH	uc004cep.4	Q9UL12	OTTHUMG00000020879	ENST00000371872.4:c.1384G>C	9.37:g.136573495C>G	ENSP00000360938:p.Glu462Gln					SARDH_uc004ceo.2_Missense_Mutation_p.E462Q|SARDH_uc011mdn.1_Missense_Mutation_p.E462Q|SARDH_uc011mdo.1_Missense_Mutation_p.E294Q	p.E462Q	NM_001134707	NP_001128179	Q9UL12	SARDH_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;3.21e-07)|Epithelial(140;2.37e-06)|all cancers(34;2.75e-05)	11	1518	-			462					B2RMR5|B4DPI2|B7ZLT6|Q5SYV0|Q9Y280|Q9Y2Y3	Missense_Mutation	SNP	ENST00000371872.4	37	c.1384G>C	CCDS6978.1	.	.	.	.	.	.	.	.	.	.	C	20.5	3.997363	0.74818	.	.	ENSG00000123453	ENST00000371872;ENST00000439388;ENST00000422262;ENST00000427237;ENST00000539227	D;D;D	0.85556	-2.0;-2.0;-2.0	5.16	4.25	0.50352	.	0.103832	0.64402	D	0.000004	D	0.90504	0.7025	L	0.59967	1.855	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.91321	0.5082	10	0.87932	D	0	-40.3378	14.9722	0.71243	0.1442:0.8558:0.0:0.0	.	462	Q9UL12	SARDH_HUMAN	Q	462;462;294;462;462	ENSP00000360938:E462Q;ENSP00000403084:E462Q;ENSP00000415537:E294Q	ENSP00000360938:E462Q	E	-	1	0	SARDH	135563316	1.000000	0.71417	0.998000	0.56505	0.453000	0.32348	7.679000	0.84048	1.136000	0.42199	-0.309000	0.09137	GAG		PASS	0.652	SARDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054931.1			62	39	62	39	---	---	---	---
COL5A1	1289	broad.mit.edu	37	9	137657551	137657551	+	Missense_Mutation	SNP	A	A	C			TCGA-66-2766-01A-01D-1522-08	TCGA-66-2766-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	452b75d0-1818-46aa-8804-9cfc0bd66449	81a4d615-e95e-4c17-87f7-c06d8dd4975a	g.chr9:137657551A>C	ENST00000371817.3	+	21	2473	c.2059A>C	c.(2059-2061)Aag>Cag	p.K687Q		NM_000093.3|NM_001278074.1	NP_000084.3|NP_001265003.1	P20908	CO5A1_HUMAN	collagen, type V, alpha 1	687	Triple-helical region.				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.K687Q(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)		GCTTGGGCCGAAGGGGCCCCC	0.622																																						uc004cfe.2																			1	Substitution - Missense(1)		lung(1)	skin(4)|ovary(3)|pancreas(2)|central_nervous_system(1)|kidney(1)	11						c.(2059-2061)AAG>CAG		alpha 1 type V collagen preproprotein							101.0	106.0	104.0					9																	137657551		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.chr9:137657551A>C	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.2059A>C	9.37:g.137657551A>C	ENSP00000360882:p.Lys687Gln						p.K687Q	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)	21	2441	+		Myeloproliferative disorder(178;0.0341)	687			Triple-helical region.		Q15094|Q5SUX4	Missense_Mutation	SNP	ENST00000371817.3	37	c.2059A>C	CCDS6982.1	.	.	.	.	.	.	.	.	.	.	A	9.894	1.204984	0.22205	.	.	ENSG00000130635	ENST00000371817	D	0.94232	-3.38	4.28	3.11	0.35812	.	0.000000	0.85682	U	0.000000	D	0.86213	0.5879	L	0.27053	0.805	0.38861	D	0.956483	P	0.41673	0.759	B	0.37267	0.245	D	0.83837	0.0255	10	0.62326	D	0.03	.	8.2645	0.31806	0.8223:0.0:0.0:0.1777	.	687	P20908	CO5A1_HUMAN	Q	687	ENSP00000360882:K687Q	ENSP00000360882:K687Q	K	+	1	0	COL5A1	136797372	1.000000	0.71417	0.907000	0.35723	0.078000	0.17371	6.756000	0.74919	0.501000	0.28013	-0.496000	0.04628	AAG		PASS	0.622	COL5A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054954.2	NM_000093		13	226	13	226	---	---	---	---
C9orf172	389813	broad.mit.edu	37	9	139739830	139739830	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2766-01A-01D-1522-08	TCGA-66-2766-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	452b75d0-1818-46aa-8804-9cfc0bd66449	81a4d615-e95e-4c17-87f7-c06d8dd4975a	g.chr9:139739830C>A	ENST00000436881.1	+	1	964	c.964C>A	c.(964-966)Cgc>Agc	p.R322S		NM_001080482.2	NP_001073951.2	C9J069	CI172_HUMAN	chromosome 9 open reading frame 172	322	Pro-rich.							p.R322S(1)		endometrium(2)|large_intestine(1)|lung(6)	9						CAGTCCAAGGCGCATGGGCGG	0.677																																						uc011meh.1																			1	Substitution - Missense(1)		lung(1)		0						c.(964-966)CGC>AGC		chromosome 9 open reading frame 172							24.0	27.0	26.0					9																	139739830		1958	4130	6088	SO:0001583	missense	389813							g.chr9:139739830C>A		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.964C>A	9.37:g.139739830C>A	ENSP00000412388:p.Arg322Ser					PHPT1_uc004cjp.2_5'Flank	p.R322S	NM_001080482	NP_001073951	C9J069	CI172_HUMAN			1	964	+			322			Pro-rich.			Missense_Mutation	SNP	ENST00000436881.1	37	c.964C>A	CCDS48059.1	.	.	.	.	.	.	.	.	.	.	.	2.461	-0.324128	0.05350	.	.	ENSG00000232434	ENST00000436881	.	.	.	4.03	4.03	0.46877	.	.	.	.	.	T	0.22898	0.0553	N	0.24115	0.695	0.09310	N	1	P	0.34780	0.468	B	0.28553	0.091	T	0.07790	-1.0754	8	0.30854	T	0.27	.	11.706	0.51597	0.0:1.0:0.0:0.0	.	322	C9J069	CI172_HUMAN	S	322	.	ENSP00000412388:R322S	R	+	1	0	C9orf172	138859651	0.001000	0.12720	0.004000	0.12327	0.007000	0.05969	-0.017000	0.12590	1.794000	0.52575	0.537000	0.68136	CGC		PASS	0.677	C9orf172-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001080482		3	53	3	53	---	---	---	---
ITGA8	8516	broad.mit.edu	37	10	15561362	15561362	+	Missense_Mutation	SNP	G	G	T	rs141983422		TCGA-66-2766-01A-01D-1522-08	TCGA-66-2766-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	452b75d0-1818-46aa-8804-9cfc0bd66449	81a4d615-e95e-4c17-87f7-c06d8dd4975a	g.chr10:15561362G>T	ENST00000378076.3	-	29	3385	c.3032C>A	c.(3031-3033)cCa>cAa	p.P1011Q		NM_003638.1	NP_003629	P53708	ITA8_HUMAN	integrin, alpha 8	1011					brain development (GO:0007420)|cell projection organization (GO:0030030)|cell-matrix adhesion (GO:0007160)|establishment of protein localization (GO:0045184)|extracellular matrix organization (GO:0030198)|inner ear morphogenesis (GO:0042472)|integrin-mediated signaling pathway (GO:0007229)|kidney development (GO:0001822)|memory (GO:0007613)|mesodermal cell differentiation (GO:0048333)|metanephros development (GO:0001656)|positive regulation of transcription from RNA polymerase II promoter involved in smooth muscle cell differentiation (GO:2000721)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|single organismal cell-cell adhesion (GO:0016337)|smooth muscle tissue development (GO:0048745)|substrate adhesion-dependent cell spreading (GO:0034446)	apical part of cell (GO:0045177)|cell surface (GO:0009986)|dendritic spine membrane (GO:0032591)|endoplasmic reticulum (GO:0005783)|focal adhesion (GO:0005925)|integrin alpha8-beta1 complex (GO:0034678)|integrin complex (GO:0008305)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	metal ion binding (GO:0046872)	p.P1011Q(1)|p.P1011L(1)		NS(2)|breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(57)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	96						TACCCATAATGGGATTGAGAA	0.348																																						uc001ioc.1																			2	Substitution - Missense(2)		lung(1)|kidney(1)	ovary(3)|lung(3)	6						c.(3031-3033)CCA>CAA		integrin, alpha 8 precursor							136.0	146.0	142.0					10																	15561362		2203	4300	6503	SO:0001583	missense	8516				cell differentiation|cell-cell adhesion|cell-matrix adhesion|integrin-mediated signaling pathway|nervous system development	integrin complex	receptor activity	g.chr10:15561362G>T	L36531	CCDS31155.1	10p13	2010-03-23			ENSG00000077943	ENSG00000077943		"""Integrins"""	6144	protein-coding gene	gene with protein product		604063				7768999	Standard	XM_005252633		Approved		uc001ioc.1	P53708	OTTHUMG00000017733	ENST00000378076.3:c.3032C>A	10.37:g.15561362G>T	ENSP00000367316:p.Pro1011Gln					ITGA8_uc010qcb.1_Missense_Mutation_p.P996Q	p.P1011Q	NM_003638	NP_003629	P53708	ITA8_HUMAN			29	3032	-			1011			Extracellular (Potential).		B0YJ31|Q5VX94	Missense_Mutation	SNP	ENST00000378076.3	37	c.3032C>A	CCDS31155.1	.	.	.	.	.	.	.	.	.	.	G	25.5	4.644150	0.87859	.	.	ENSG00000077943	ENST00000378076;ENST00000538044	T	0.75050	-0.9	5.71	5.71	0.89125	.	0.000000	0.85682	D	0.000000	D	0.87649	0.6230	M	0.83223	2.63	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.88669	0.3194	10	0.72032	D	0.01	.	18.0574	0.89367	0.0:0.0:1.0:0.0	.	996;1011	F5H818;P53708	.;ITA8_HUMAN	Q	1011;996	ENSP00000367316:P1011Q	ENSP00000367316:P1011Q	P	-	2	0	ITGA8	15601368	1.000000	0.71417	0.964000	0.40570	0.994000	0.84299	8.158000	0.89649	2.712000	0.92718	0.650000	0.86243	CCA		PASS	0.348	ITGA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046987.1	NM_003638		86	153	86	153	---	---	---	---
ZNF438	220929	broad.mit.edu	37	10	31133898	31133898	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2766-01A-01D-1522-08	TCGA-66-2766-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	452b75d0-1818-46aa-8804-9cfc0bd66449	81a4d615-e95e-4c17-87f7-c06d8dd4975a	g.chr10:31133898C>T	ENST00000361310.3	-	7	2808	c.2479G>A	c.(2479-2481)Gag>Aag	p.E827K	ZNF438_ENST00000444692.2_Missense_Mutation_p.E817K|ZNF438_ENST00000436087.2_Missense_Mutation_p.E827K|ZNF438_ENST00000413025.1_Missense_Mutation_p.E827K|ZNF438_ENST00000331737.6_Missense_Mutation_p.E817K|ZNF438_ENST00000375311.1_Missense_Mutation_p.E391K|ZNF438_ENST00000452305.1_Missense_Mutation_p.E817K|ZNF438_ENST00000442986.1_Missense_Mutation_p.E827K|ZNF438_ENST00000538351.2_Missense_Mutation_p.E778K			Q7Z4V0	ZN438_HUMAN	zinc finger protein 438	827					negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.E827K(1)|p.E827Q(1)		breast(3)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(15)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35		Prostate(175;0.0587)				TCTCATTTCTCAGCTTCACTG	0.512																																						uc010qdz.1																			2	Substitution - Missense(2)		lung(2)	ovary(1)|breast(1)	2						c.(2479-2481)GAG>AAG		zinc finger protein 438 isoform a							164.0	169.0	167.0					10																	31133898		2203	4300	6503	SO:0001583	missense	220929				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr10:31133898C>T	AK057323	CCDS7168.1, CCDS44369.1, CCDS53504.1	10p11.23	2006-02-15			ENSG00000183621	ENSG00000183621		"""Zinc fingers, C2H2-type"""	21029	protein-coding gene	gene with protein product							Standard	NM_182755		Approved	bA330O11.1	uc010qeb.2	Q7Z4V0	OTTHUMG00000017904	ENST00000361310.3:c.2479G>A	10.37:g.31133898C>T	ENSP00000354663:p.Glu827Lys					ZNF438_uc001ivn.2_Missense_Mutation_p.E778K|ZNF438_uc010qdy.1_Missense_Mutation_p.E817K|ZNF438_uc001ivo.3_Missense_Mutation_p.E391K|ZNF438_uc009xlg.2_Missense_Mutation_p.E827K|ZNF438_uc001ivp.3_Missense_Mutation_p.E817K|ZNF438_uc010qea.1_Missense_Mutation_p.E827K|ZNF438_uc010qeb.1_Missense_Mutation_p.E827K	p.E827K	NM_182755	NP_877432	Q7Z4V0	ZN438_HUMAN			8	2914	-		Prostate(175;0.0587)	827					A2A3J4|A8K9L5|Q5T426|Q658Q4|Q6ZN65	Missense_Mutation	SNP	ENST00000361310.3	37	c.2479G>A	CCDS7168.1	.	.	.	.	.	.	.	.	.	.	C	14.38	2.517615	0.44763	.	.	ENSG00000183621	ENST00000331737;ENST00000361310;ENST00000436087;ENST00000442986;ENST00000413025;ENST00000452305;ENST00000444692;ENST00000538351;ENST00000430896;ENST00000375311	T;T;T;T;T;T;T;T;T	0.10192	2.94;2.95;2.95;2.95;2.95;2.94;2.94;2.96;2.9	5.5	2.63	0.31362	.	0.789542	0.12290	N	0.482076	T	0.11537	0.0281	L	0.50333	1.59	0.09310	N	1	B;B	0.23806	0.055;0.091	B;B	0.24541	0.024;0.054	T	0.23511	-1.0186	10	0.54805	T	0.06	-0.9858	8.1793	0.31300	0.0:0.7623:0.0:0.2377	.	827;817	Q7Z4V0;Q7Z4V0-2	ZN438_HUMAN;.	K	817;827;827;827;827;817;817;778;546;391	ENSP00000333571:E817K;ENSP00000354663:E827K;ENSP00000406934:E827K;ENSP00000412363:E827K;ENSP00000387546:E827K;ENSP00000413060:E817K;ENSP00000410898:E817K;ENSP00000445461:E778K;ENSP00000364460:E391K	ENSP00000333571:E817K	E	-	1	0	ZNF438	31173904	0.000000	0.05858	0.000000	0.03702	0.017000	0.09413	0.076000	0.14712	0.366000	0.24427	0.655000	0.94253	GAG		PASS	0.512	ZNF438-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000277006.1	NM_182755		104	476	104	476	---	---	---	---
KIF5B	3799	broad.mit.edu	37	10	32309970	32309970	+	Missense_Mutation	SNP	T	T	A			TCGA-66-2766-01A-01D-1522-08	TCGA-66-2766-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	452b75d0-1818-46aa-8804-9cfc0bd66449	81a4d615-e95e-4c17-87f7-c06d8dd4975a	g.chr10:32309970T>A	ENST00000302418.4	-	19	2641	c.2184A>T	c.(2182-2184)aaA>aaT	p.K728N	KIF5B_ENST00000493889.1_5'UTR	NM_004521.2	NP_004512.1	P33176	KINH_HUMAN	kinesin family member 5B	728					ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|cellular protein metabolic process (GO:0044267)|cytoplasm organization (GO:0007028)|cytoskeleton-dependent intracellular transport (GO:0030705)|microtubule-based movement (GO:0007018)|plus-end-directed vesicle transport along microtubule (GO:0072383)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of potassium ion transport (GO:0043268)|regulation of membrane potential (GO:0042391)|stress granule disassembly (GO:0035617)|vesicle transport along microtubule (GO:0047496)	ciliary rootlet (GO:0035253)|cytoplasm (GO:0005737)|endocytic vesicle (GO:0030139)|kinesin complex (GO:0005871)|membrane (GO:0016020)|microtubule (GO:0005874)|microtubule organizing center (GO:0005815)|neuron projection (GO:0043005)|perinuclear region of cytoplasm (GO:0048471)|vesicle (GO:0031982)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule binding (GO:0008017)|microtubule motor activity (GO:0003777)|plus-end-directed microtubule motor activity (GO:0008574)	p.K728N(1)	KIF5B/ALK(8)|KIF5B/RET(79)	NS(2)|breast(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(11)|ovary(1)|prostate(1)	35		Prostate(175;0.0137)				CAGTAATAAGTTTTGCTTTTG	0.348			T	"""RET, ALK"""	NSCLC																																	uc001iwe.3				Dom	yes		10	10p11.22	3799		kinesin family member 5B			E				KIF5B/ALK(4)	1	Substitution - Missense(1)		lung(1)	lung(4)|ovary(1)	5						c.(2182-2184)AAA>AAT		kinesin family member 5B							147.0	140.0	142.0					10																	32309970		2202	4298	6500	SO:0001583	missense	3799				stress granule disassembly|vesicle transport along microtubule	kinesin complex|microtubule|perinuclear region of cytoplasm|vesicle	ATP binding|microtubule binding|microtubule motor activity	g.chr10:32309970T>A	X65873	CCDS7171.1	10p11.22	2007-02-13			ENSG00000170759	ENSG00000170759		"""Kinesins"""	6324	protein-coding gene	gene with protein product		602809		KNS1		1607388	Standard	NM_004521		Approved	KNS	uc001iwe.4	P33176	OTTHUMG00000017913	ENST00000302418.4:c.2184A>T	10.37:g.32309970T>A	ENSP00000307078:p.Lys728Asn						p.K728N	NM_004521	NP_004512	P33176	KINH_HUMAN			19	2654	-		Prostate(175;0.0137)	728					A0AVB2|Q5VZ85	Missense_Mutation	SNP	ENST00000302418.4	37	c.2184A>T	CCDS7171.1	.	.	.	.	.	.	.	.	.	.	T	13.86	2.362224	0.41902	.	.	ENSG00000170759	ENST00000302418	T	0.79845	-1.31	5.36	1.36	0.22044	.	0.000000	0.85682	D	0.000000	T	0.75939	0.3918	M	0.69823	2.125	0.46954	D	0.999261	B	0.16802	0.019	B	0.20955	0.032	T	0.67333	-0.5697	10	0.33141	T	0.24	.	9.4702	0.38837	0.0:0.3742:0.0:0.6258	.	728	P33176	KINH_HUMAN	N	728	ENSP00000307078:K728N	ENSP00000307078:K728N	K	-	3	2	KIF5B	32349976	0.916000	0.31088	0.999000	0.59377	0.990000	0.78478	-0.018000	0.12568	0.262000	0.21774	0.482000	0.46254	AAA		PASS	0.348	KIF5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047467.1	NM_004521		131	75	131	75	---	---	---	---
RET	5979	broad.mit.edu	37	10	43606776	43606776	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2766-01A-01D-1522-08	TCGA-66-2766-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	452b75d0-1818-46aa-8804-9cfc0bd66449	81a4d615-e95e-4c17-87f7-c06d8dd4975a	g.chr10:43606776C>T	ENST00000355710.3	+	7	1617	c.1385C>T	c.(1384-1386)tCg>tTg	p.S462L	RET_ENST00000340058.5_Missense_Mutation_p.S462L	NM_020975.4	NP_066124.1	P07949	RET_HUMAN	ret proto-oncogene	462					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|cellular response to retinoic acid (GO:0071300)|embryonic epithelial tube formation (GO:0001838)|enteric nervous system development (GO:0048484)|homophilic cell adhesion (GO:0007156)|innervation (GO:0060384)|lymphocyte migration into lymphoid organs (GO:0097021)|MAPK cascade (GO:0000165)|membrane protein proteolysis (GO:0033619)|neural crest cell migration (GO:0001755)|neuron cell-cell adhesion (GO:0007158)|neuron maturation (GO:0042551)|peptidyl-tyrosine phosphorylation (GO:0018108)|Peyer's patch morphogenesis (GO:0061146)|positive regulation of cell adhesion mediated by integrin (GO:0033630)|positive regulation of cell migration (GO:0030335)|positive regulation of cell size (GO:0045793)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of metanephric glomerulus development (GO:0072300)|positive regulation of neuron maturation (GO:0014042)|positive regulation of neuron projection development (GO:0010976)|positive regulation of transcription, DNA-templated (GO:0045893)|posterior midgut development (GO:0007497)|protein phosphorylation (GO:0006468)|regulation of axonogenesis (GO:0050770)|regulation of cell adhesion (GO:0030155)|response to drug (GO:0042493)|response to pain (GO:0048265)|retina development in camera-type eye (GO:0060041)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|ureter maturation (GO:0035799)|ureteric bud development (GO:0001657)	endosome membrane (GO:0010008)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|protein tyrosine kinase activity (GO:0004713)|receptor activity (GO:0004872)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)	p.S462L(1)	CCDC6/RET(4)|KIF5B/RET(79)	NS(2)|adrenal_gland(26)|breast(5)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(14)|lung(27)|ovary(5)|prostate(3)|skin(1)|thyroid(504)|upper_aerodigestive_tract(1)|urinary_tract(1)	607		Ovarian(717;0.0423)			Cabozantinib(DB08875)|Ponatinib(DB08901)|Regorafenib(DB08896)|Sorafenib(DB00398)	GAGGACACCTCGGGGATCCTG	0.597		1	"""T, Mis, N, F"""	"""H4, PRKAR1A, NCOA4, PCM1, GOLGA5, TRIM33, KTN1, TRIM27, HOOK3, KIF5B, CCDC6"""	"""medullary thyroid,  papillary thyroid, pheochromocytoma, NSCLC"""	"""medullary thyroid,  papillary thyroid, pheochromocytoma"""	Hirschsprung disease		Multiple Endocrine Neoplasia, type 2B;Multiple Endocrine Neoplasia, type 2A;Familial Medullary Thyroid Carcinoma																												Melanoma(102;360 522 3376 9752 9881 14372 17251 18341 20876 24662 34807 43144 48149)	uc001jal.2		1	yes	Dom	yes	Multiple endocrine neoplasia 2A/2B	10	10q11.2	5979	T|Mis|N|F	ret proto-oncogene	yes	Hirschsprung disease	"""E, O"""	H4|PRKAR1A|NCOA4|PCM1|GOLGA5|TRIM33|KTN1|TRIM27|HOOK3	medullary thyroid| papillary thyroid|pheochromocytoma	medullary thyroid| papillary thyroid|pheochromocytoma		1	Substitution - Missense(1)		lung(1)	thyroid(404)|adrenal_gland(20)|lung(9)|large_intestine(5)|breast(4)|ovary(4)|central_nervous_system(3)|urinary_tract(1)|NS(1)	451						c.(1384-1386)TCG>TTG		ret proto-oncogene isoform a	Sunitinib(DB01268)						119.0	106.0	111.0					10																	43606776		2203	4300	6503	SO:0001583	missense	5979	Multiple_Endocrine_Neoplasia_type_2B|Multiple_Endocrine_Neoplasia_type_2A|Familial_Medullary_Thyroid_Carcinoma	Familial Cancer Database	MEN2B, Wagenmann-Froboese s.;MEN2A, Sipple disease, incl MEN2C;FMTC	homophilic cell adhesion|positive regulation of metanephric glomerulus development|positive regulation of transcription, DNA-dependent|posterior midgut development	integral to membrane	ATP binding|calcium ion binding|transmembrane receptor protein tyrosine kinase activity	g.chr10:43606776C>T	BC004257	CCDS7200.1, CCDS53525.1	10q11.2	2014-09-17	2007-02-16		ENSG00000165731	ENSG00000165731		"""Cadherins / Cadherin-related"""	9967	protein-coding gene	gene with protein product	"""cadherin-related family member 16"""	164761	"""multiple endocrine neoplasia and medullary thyroid carcinoma 1"", ""Hirschsprung disease 1"""	HSCR1, MEN2A, MTC1, MEN2B		2687772, 1611909	Standard	NM_020975		Approved	PTC, CDHF12, RET51, CDHR16	uc001jal.3	P07949	OTTHUMG00000018024	ENST00000355710.3:c.1385C>T	10.37:g.43606776C>T	ENSP00000347942:p.Ser462Leu					RET_uc001jak.1_Missense_Mutation_p.S462L|RET_uc010qez.1_Missense_Mutation_p.S208L	p.S462L	NM_020975	NP_066124	P07949	RET_HUMAN			7	1575	+		Ovarian(717;0.0423)	462			Extracellular (Potential).		A8K6Z2|Q15250|Q9BTB0|Q9H4A2	Missense_Mutation	SNP	ENST00000355710.3	37	c.1385C>T	CCDS7200.1	.	.	.	.	.	.	.	.	.	.	C	1.941	-0.443658	0.04604	.	.	ENSG00000165731	ENST00000355710;ENST00000340058	T;T	0.79033	-1.12;-1.23	5.74	2.86	0.33363	.	0.548739	0.20691	N	0.087443	T	0.59376	0.2189	L	0.44542	1.39	0.09310	N	1	B;B;B	0.34200	0.313;0.313;0.441	B;B;B	0.31101	0.023;0.014;0.124	T	0.42413	-0.9453	10	0.11485	T	0.65	.	1.3517	0.02174	0.1401:0.4039:0.1363:0.3198	.	208;462;462	B4DGX8;P07949;P07949-2	.;RET_HUMAN;.	L	462	ENSP00000347942:S462L;ENSP00000344798:S462L	ENSP00000344798:S462L	S	+	2	0	RET	42926782	0.308000	0.24509	0.001000	0.08648	0.122000	0.20287	1.681000	0.37618	0.337000	0.23665	0.655000	0.94253	TCG		PASS	0.597	RET-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047694.2	NM_020975		62	162	62	162	---	---	---	---
HK1	3098	broad.mit.edu	37	10	71146157	71146157	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2766-01A-01D-1522-08	TCGA-66-2766-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	452b75d0-1818-46aa-8804-9cfc0bd66449	81a4d615-e95e-4c17-87f7-c06d8dd4975a	g.chr10:71146157G>T	ENST00000359426.6	+	13	2022	c.1918G>T	c.(1918-1920)Gcg>Tcg	p.A640S	HK1_ENST00000404387.2_Missense_Mutation_p.A644S|HK1_ENST00000448642.2_Missense_Mutation_p.A675S|HK1_ENST00000494253.1_3'UTR|HK1_ENST00000360289.2_Missense_Mutation_p.A628S|HK1_ENST00000298649.3_Missense_Mutation_p.A639S	NM_000188.2	NP_000179.2	P19367	HXK1_HUMAN	hexokinase 1	640	Catalytic.|Hexokinase type-1 2.				carbohydrate metabolic process (GO:0005975)|carbohydrate phosphorylation (GO:0046835)|cell death (GO:0008219)|cellular glucose homeostasis (GO:0001678)|glucose 6-phosphate metabolic process (GO:0051156)|glucose transport (GO:0015758)|glycolytic process (GO:0006096)|hexose metabolic process (GO:0019318)|hexose transport (GO:0008645)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	cytosol (GO:0005829)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|fructokinase activity (GO:0008865)|glucokinase activity (GO:0004340)|hexokinase activity (GO:0004396)|mannokinase activity (GO:0019158)	p.A644S(1)|p.A639S(1)		breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|liver(1)|lung(14)|ovary(1)|urinary_tract(2)	35						ACTAAGGGATGCGATAAAAAG	0.383																																						uc001jpl.3																			2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(1918-1920)GCG>TCG		hexokinase 1 isoform HKI							90.0	80.0	83.0					10																	71146157		2203	4300	6503	SO:0001583	missense	3098				glucose transport|glycolysis|transmembrane transport	cytosol|mitochondrial outer membrane|nucleus	ATP binding|glucokinase activity	g.chr10:71146157G>T	M75126	CCDS7289.1, CCDS7290.1, CCDS7291.1, CCDS7292.1	10q22	2014-09-17			ENSG00000156515	ENSG00000156515	2.7.1.1		4922	protein-coding gene	gene with protein product		142600					Standard	NM_033496		Approved		uc001jpi.4	P19367	OTTHUMG00000018380	ENST00000359426.6:c.1918G>T	10.37:g.71146157G>T	ENSP00000352398:p.Ala640Ser					HK1_uc001jpg.3_Missense_Mutation_p.A628S|HK1_uc001jph.3_Missense_Mutation_p.A644S|HK1_uc001jpi.3_Missense_Mutation_p.A644S|HK1_uc001jpj.3_Missense_Mutation_p.A675S|HK1_uc001jpk.3_Missense_Mutation_p.A639S|HK1_uc009xqd.2_Missense_Mutation_p.A518S	p.A640S	NM_000188	NP_000179	P19367	HXK1_HUMAN			13	2019	+			640			Catalytic.		E9PCK0|O43443|O43444|O75574|Q5VTC3|Q96HC8|Q9NNZ4|Q9NNZ5	Missense_Mutation	SNP	ENST00000359426.6	37	c.1918G>T	CCDS7292.1	.	.	.	.	.	.	.	.	.	.	G	28.7	4.944680	0.92593	.	.	ENSG00000156515	ENST00000360289;ENST00000448642;ENST00000404387;ENST00000298649;ENST00000359426;ENST00000405407	D;D;D;D;D	0.98602	-5.02;-5.02;-5.02;-5.02;-5.02	5.72	5.72	0.89469	Hexokinase, N-terminal (1);	0.102166	0.64402	D	0.000005	D	0.98785	0.9591	M	0.75884	2.315	0.54753	D	0.999985	B;P;P;P;P;P	0.46706	0.366;0.831;0.549;0.731;0.549;0.883	P;P;P;P;P;P	0.61800	0.519;0.894;0.764;0.849;0.84;0.882	D	0.99764	1.1022	10	0.72032	D	0.01	-26.0083	19.463	0.94927	0.0:0.0:1.0:0.0	.	640;640;639;675;644;628	A8K7J7;P19367;P19367-2;E7ENR4;P19367-3;P19367-4	.;HXK1_HUMAN;.;.;.;.	S	628;675;644;639;640;640	ENSP00000353433:A628S;ENSP00000402103:A675S;ENSP00000384774:A644S;ENSP00000298649:A639S;ENSP00000352398:A640S	ENSP00000298649:A639S	A	+	1	0	HK1	70816163	1.000000	0.71417	0.163000	0.22734	0.889000	0.51656	9.357000	0.97099	2.694000	0.91930	0.655000	0.94253	GCG		PASS	0.383	HK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048429.2	NM_000188		20	81	20	81	---	---	---	---
CDH23	64072	broad.mit.edu	37	10	73437260	73437260	+	Missense_Mutation	SNP	T	T	A			TCGA-66-2766-01A-01D-1522-08	TCGA-66-2766-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	452b75d0-1818-46aa-8804-9cfc0bd66449	81a4d615-e95e-4c17-87f7-c06d8dd4975a	g.chr10:73437260T>A	ENST00000224721.6	+	15	1582	c.1577T>A	c.(1576-1578)cTg>cAg	p.L526Q	CDH23_ENST00000299366.7_Missense_Mutation_p.L566Q	NM_022124.5	NP_071407.4	Q9H251	CAD23_HUMAN	cadherin-related 23	521	Cadherin 5. {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.L526Q(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						ATTGCCAGGCTGGACTATGAG	0.587																																						uc001jrx.3																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(5)|large_intestine(4)|ovary(2)	11						c.(1561-1563)CTG>CAG		cadherin-like 23 isoform 1 precursor							40.0	41.0	41.0					10																	73437260		2092	4212	6304	SO:0001583	missense	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.chr10:73437260T>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.1577T>A	10.37:g.73437260T>A	ENSP00000224721:p.Leu526Gln					CDH23_uc001jry.2_Missense_Mutation_p.L137Q|CDH23_uc001jrz.2_Missense_Mutation_p.L137Q	p.L521Q	NM_022124	NP_071407	Q9H251	CAD23_HUMAN			15	1939	+			521			Cadherin 5.|Extracellular (Potential).		C4IXS9|F6U049|Q5QGS1|Q5QGS2|Q5QGS5|Q5QGS6|Q5XKN2|Q6UWW1|Q96JL3|Q9H4K9	Missense_Mutation	SNP	ENST00000224721.6	37	c.1562T>A		.	.	.	.	.	.	.	.	.	.	T	27.1	4.801308	0.90538	.	.	ENSG00000107736	ENST00000398860;ENST00000398855;ENST00000398828;ENST00000299366;ENST00000224721;ENST00000442677	.	.	.	5.51	5.51	0.81932	Cadherin (5);Cadherin-like (1);	0.000000	0.56097	D	0.000036	D	0.87140	0.6103	H	0.95365	3.66	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.999;0.998	D	0.91058	0.4883	9	0.87932	D	0	.	15.6692	0.77258	0.0:0.0:0.0:1.0	.	521;524;521	Q6P152;G3XCN8;Q9H251	.;.;CAD23_HUMAN	Q	526;521;521;524;524;38	.	ENSP00000224721:L526Q	L	+	2	0	CDH23	73107266	1.000000	0.71417	0.956000	0.39512	0.914000	0.54420	7.959000	0.87885	2.097000	0.63578	0.529000	0.55759	CTG		PASS	0.587	CDH23-001	PUTATIVE	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000051227.4	NM_052836		3	15	3	15	---	---	---	---
DLG5	9231	broad.mit.edu	37	10	79584220	79584220	+	Silent	SNP	T	T	A			TCGA-66-2766-01A-01D-1522-08	TCGA-66-2766-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	452b75d0-1818-46aa-8804-9cfc0bd66449	81a4d615-e95e-4c17-87f7-c06d8dd4975a	g.chr10:79584220T>A	ENST00000372391.2	-	14	2309	c.2304A>T	c.(2302-2304)gcA>gcT	p.A768A	DLG5_ENST00000459739.1_5'Flank|DLG5_ENST00000372388.2_Silent_p.A768A	NM_004747.3	NP_004738.3	Q8TDM6	DLG5_HUMAN	discs, large homolog 5 (Drosophila)	768	PDZ 2. {ECO:0000255|PROSITE- ProRule:PRU00143}.				apical protein localization (GO:0045176)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|establishment or maintenance of epithelial cell apical/basal polarity (GO:0045197)|intracellular signal transduction (GO:0035556)|metanephric collecting duct development (GO:0072205)|midbrain development (GO:0030901)|negative regulation of cell proliferation (GO:0008285)|polarized epithelial cell differentiation (GO:0030859)|protein complex assembly (GO:0006461)|protein localization to adherens junction (GO:0071896)|regulation of apoptotic process (GO:0042981)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|zonula adherens assembly (GO:0045186)	cell-cell adherens junction (GO:0005913)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	beta-catenin binding (GO:0008013)|cytoskeletal protein binding (GO:0008092)|receptor signaling complex scaffold activity (GO:0030159)	p.A768A(1)		breast(9)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(17)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	60	all_cancers(46;0.0316)|all_epithelial(25;0.00147)|Breast(12;0.0015)|Prostate(51;0.0146)		Epithelial(14;0.00105)|OV - Ovarian serous cystadenocarcinoma(4;0.00151)|all cancers(16;0.00446)			TGTTGTCCAGTGCAATGCCAT	0.567																																						uc001jzk.2																			1	Substitution - coding silent(1)		lung(1)	ovary(5)|breast(3)	8						c.(2302-2304)GCA>GCT		discs large homolog 5							90.0	65.0	74.0					10																	79584220		2203	4300	6503	SO:0001819	synonymous_variant	9231				cell-cell adhesion|intracellular signal transduction|negative regulation of cell proliferation|regulation of apoptosis	cell junction|cytoplasm	beta-catenin binding|cytoskeletal protein binding|receptor signaling complex scaffold activity	g.chr10:79584220T>A	U61843	CCDS7353.2	10q23	2008-07-09	2001-11-28		ENSG00000151208	ENSG00000151208			2904	protein-coding gene	gene with protein product		604090	"""discs, large (Drosophila) homolog 5"""			9738934	Standard	XM_005270276		Approved	P-dlg, KIAA0583	uc001jzk.3	Q8TDM6	OTTHUMG00000018548	ENST00000372391.2:c.2304A>T	10.37:g.79584220T>A						DLG5_uc001jzj.2_Silent_p.A523A|DLG5_uc009xru.1_RNA|DLG5_uc001jzl.3_Silent_p.A372A	p.A768A	NM_004747	NP_004738	Q8TDM6	DLG5_HUMAN	Epithelial(14;0.00105)|OV - Ovarian serous cystadenocarcinoma(4;0.00151)|all cancers(16;0.00446)		14	2374	-	all_cancers(46;0.0316)|all_epithelial(25;0.00147)|Breast(12;0.0015)|Prostate(51;0.0146)		768			PDZ 2.		A6H8Y3|Q149N1|Q5T1H7|Q5T1H8|Q6DKG3|Q86WC0|Q8TDM7|Q9UE73|Q9Y4E3	Silent	SNP	ENST00000372391.2	37	c.2304A>T	CCDS7353.2																																																																																				PASS	0.567	DLG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048900.2			20	45	20	45	---	---	---	---
POLR3A	11128	broad.mit.edu	37	10	79784336	79784336	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2766-01A-01D-1522-08	TCGA-66-2766-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	452b75d0-1818-46aa-8804-9cfc0bd66449	81a4d615-e95e-4c17-87f7-c06d8dd4975a	g.chr10:79784336C>G	ENST00000372371.3	-	5	753	c.616G>C	c.(616-618)Gaa>Caa	p.E206Q		NM_007055.3	NP_008986.2	O14802	RPC1_HUMAN	polymerase (RNA) III (DNA directed) polypeptide A, 155kDa	206					defense response to virus (GO:0051607)|gene expression (GO:0010467)|innate immune response (GO:0045087)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of type I interferon production (GO:0032481)|termination of RNA polymerase III transcription (GO:0006386)|transcription elongation from RNA polymerase III promoter (GO:0006385)|transcription from RNA polymerase III promoter (GO:0006383)|transcription, DNA-templated (GO:0006351)	cytosol (GO:0005829)|DNA-directed RNA polymerase III complex (GO:0005666)|membrane (GO:0016020)|nucleoplasm (GO:0005654)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)|ribonucleoside binding (GO:0032549)|zinc ion binding (GO:0008270)	p.E206Q(1)		breast(1)|endometrium(7)|kidney(3)|large_intestine(13)|lung(25)|ovary(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	59	all_cancers(46;0.0356)|all_epithelial(25;0.00102)|Breast(12;0.00124)|Prostate(51;0.0095)		Epithelial(14;0.00161)|OV - Ovarian serous cystadenocarcinoma(4;0.00323)|all cancers(16;0.00646)			GGCTCCACTTCTTTATTATGT	0.478																																						uc001jzn.2																			1	Substitution - Missense(1)		lung(1)		0						c.(616-618)GAA>CAA		polymerase (RNA) III (DNA directed) polypeptide							103.0	97.0	99.0					10																	79784336		2203	4300	6503	SO:0001583	missense	11128				innate immune response|positive regulation of interferon-beta production|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	DNA-directed RNA polymerase III complex	DNA binding|DNA-directed RNA polymerase activity|ribonucleoside binding|zinc ion binding	g.chr10:79784336C>G	AF021351	CCDS7354.1	10q22-q23	2013-01-21			ENSG00000148606	ENSG00000148606		"""RNA polymerase subunits"""	30074	protein-coding gene	gene with protein product		614258				9331371, 12391170	Standard	NM_007055		Approved	RPC1, RPC155, hRPC155	uc001jzn.3	O14802	OTTHUMG00000018550	ENST00000372371.3:c.616G>C	10.37:g.79784336C>G	ENSP00000361446:p.Glu206Gln						p.E206Q	NM_007055	NP_008986	O14802	RPC1_HUMAN	Epithelial(14;0.00161)|OV - Ovarian serous cystadenocarcinoma(4;0.00323)|all cancers(16;0.00646)		5	710	-	all_cancers(46;0.0356)|all_epithelial(25;0.00102)|Breast(12;0.00124)|Prostate(51;0.0095)		206					Q8IW34|Q8TCW5	Missense_Mutation	SNP	ENST00000372371.3	37	c.616G>C	CCDS7354.1	.	.	.	.	.	.	.	.	.	.	C	24.2	4.503893	0.85176	.	.	ENSG00000148606	ENST00000372371;ENST00000540842	T	0.24908	1.83	5.52	5.52	0.82312	RNA polymerase Rpb1, domain 1 (1);	0.103499	0.64402	D	0.000005	T	0.48352	0.1495	M	0.79011	2.435	0.53005	D	0.999967	P	0.48350	0.909	P	0.54401	0.751	T	0.42616	-0.9441	9	.	.	.	-25.4625	19.4533	0.94876	0.0:1.0:0.0:0.0	.	206	O14802	RPC1_HUMAN	Q	206	ENSP00000361446:E206Q	.	E	-	1	0	POLR3A	79454342	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	4.333000	0.59285	2.604000	0.88044	0.555000	0.69702	GAA		PASS	0.478	POLR3A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048923.1	NM_007055		28	84	28	84	---	---	---	---
NRG3	10718	broad.mit.edu	37	10	84118601	84118601	+	Silent	SNP	G	G	A			TCGA-66-2766-01A-01D-1522-08	TCGA-66-2766-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	452b75d0-1818-46aa-8804-9cfc0bd66449	81a4d615-e95e-4c17-87f7-c06d8dd4975a	g.chr10:84118601G>A	ENST00000404547.1	+	2	930	c.930G>A	c.(928-930)ctG>ctA	p.L310L	NRG3_ENST00000556918.1_Silent_p.L140L|NRG3_ENST00000372141.2_Silent_p.L310L|NRG3_ENST00000404576.2_Silent_p.L114L|NRG3_ENST00000372142.2_Silent_p.L89L			P56975	NRG3_HUMAN	neuregulin 3	310	EGF-like. {ECO:0000255|PROSITE- ProRule:PRU00076}.				activation of transmembrane receptor protein tyrosine kinase activity (GO:0007171)|intracellular signal transduction (GO:0035556)|mammary placode formation (GO:0060596)|pattern specification process (GO:0007389)|regulation of cell growth (GO:0001558)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	growth factor activity (GO:0008083)|receptor tyrosine kinase binding (GO:0030971)|transmembrane receptor protein tyrosine kinase activator activity (GO:0030297)	p.L310L(1)|p.L89L(1)		breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(41)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	69				GBM - Glioblastoma multiforme(1;2.5e-18)|all cancers(1;2.85e-09)		TCGAAACCCTGACCGGATCCC	0.567																																						uc001kco.2																			2	Substitution - coding silent(2)		lung(2)	lung(5)|breast(1)	6						c.(928-930)CTG>CTA		neuregulin 3 isoform 1							143.0	111.0	122.0					10																	84118601		2203	4300	6503	SO:0001819	synonymous_variant	10718				regulation of cell growth	extracellular region|integral to plasma membrane	growth factor activity|receptor tyrosine kinase binding|transmembrane receptor protein tyrosine kinase activator activity	g.chr10:84118601G>A	AK098823	CCDS31233.1, CCDS53547.1	10q22-q23	2003-09-09			ENSG00000185737	ENSG00000185737			7999	protein-coding gene	gene with protein product		605533				9275162	Standard	NM_001010848		Approved		uc001kco.2	P56975	OTTHUMG00000018626	ENST00000404547.1:c.930G>A	10.37:g.84118601G>A						NRG3_uc010qlz.1_Silent_p.L310L|NRG3_uc001kcp.2_Silent_p.L89L|NRG3_uc001kcq.2_5'UTR	p.L310L	NM_001010848	NP_001010848	P56975	NRG3_HUMAN		GBM - Glioblastoma multiforme(1;2.5e-18)|all cancers(1;2.85e-09)	2	957	+			310			EGF-like.|Extracellular (Potential).		A4D7U1|Q0PEH2|Q5VYH3	Silent	SNP	ENST00000404547.1	37	c.930G>A	CCDS31233.1																																																																																				PASS	0.567	NRG3-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000412262.1	XM_166086		18	71	18	71	---	---	---	---
MMRN2	79812	broad.mit.edu	37	10	88702234	88702234	+	Silent	SNP	G	G	A			TCGA-66-2766-01A-01D-1522-08	TCGA-66-2766-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	452b75d0-1818-46aa-8804-9cfc0bd66449	81a4d615-e95e-4c17-87f7-c06d8dd4975a	g.chr10:88702234G>A	ENST00000372027.5	-	6	2628	c.2307C>T	c.(2305-2307)gaC>gaT	p.D769D	MMRN2_ENST00000488950.1_5'Flank	NM_024756.2	NP_079032.2	Q9H8L6	MMRN2_HUMAN	multimerin 2	769					angiogenesis (GO:0001525)|negative regulation of cell migration involved in sprouting angiogenesis (GO:0090051)|negative regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030948)	basement membrane (GO:0005604)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)		p.D769D(1)		breast(1)|kidney(1)|large_intestine(6)|lung(7)|prostate(2)|skin(1)|stomach(1)	19						GCTTCCCCAGGTCCAGGCTGA	0.592																																						uc001kea.2																			1	Substitution - coding silent(1)		lung(1)	large_intestine(1)	1						c.(2305-2307)GAC>GAT		multimerin 2 precursor							100.0	98.0	99.0					10																	88702234		2203	4300	6503	SO:0001819	synonymous_variant	79812					extracellular space		g.chr10:88702234G>A	AK023527	CCDS7379.1	10q23.31	2004-03-10	2004-03-02	2004-03-02	ENSG00000173269	ENSG00000173269		"""EMI domain containing"""	19888	protein-coding gene	gene with protein product		608925	"""elastin microfibril interfacer 3"""	EMILIN3		11559704	Standard	NM_024756		Approved	EndoGlyx-1, FLJ13465	uc001kea.3	Q9H8L6	OTTHUMG00000018663	ENST00000372027.5:c.2307C>T	10.37:g.88702234G>A						MMRN2_uc010qmn.1_Silent_p.D412D|MMRN2_uc009xtb.2_Silent_p.D726D	p.D769D	NM_024756	NP_079032	Q9H8L6	MMRN2_HUMAN			6	2434	-			769					Q504V7|Q6P2N2	Silent	SNP	ENST00000372027.5	37	c.2307C>T	CCDS7379.1																																																																																				PASS	0.592	MMRN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049179.2	NM_024756		51	216	51	216	---	---	---	---
MIR607	693192	broad.mit.edu	37	10	98588498	98588498	+	RNA	SNP	T	T	C			TCGA-66-2766-01A-01D-1522-08	TCGA-66-2766-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	452b75d0-1818-46aa-8804-9cfc0bd66449	81a4d615-e95e-4c17-87f7-c06d8dd4975a	g.chr10:98588498T>C	ENST00000385241.1	-	0	23					NR_030338.1				microRNA 607																		aatccagatctataacctgtg	0.423																																						hsa-mir-607|MI0003620																			0					0															28.0	27.0	27.0					10																	98588498		1565	3571	5136			693192							g.chr10:98588498T>C			10	2011-09-12		2008-12-18	ENSG00000207976	ENSG00000207976		"""ncRNAs / Micro RNAs"""	32863	non-coding RNA	RNA, micro				MIRN607			Standard	NR_030338		Approved	hsa-mir-607					10.37:g.98588498T>C																-									RNA	SNP	ENST00000385241.1	37	c.24T>C																																																																																					PASS	0.423	MIR607-201	KNOWN	basic	miRNA	miRNA		NR_030338		17	8	17	8	---	---	---	---
PTDSS2	81490	broad.mit.edu	37	11	490429	490429	+	Silent	SNP	A	A	G			TCGA-66-2766-01A-01D-1522-08	TCGA-66-2766-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	452b75d0-1818-46aa-8804-9cfc0bd66449	81a4d615-e95e-4c17-87f7-c06d8dd4975a	g.chr11:490429A>G	ENST00000308020.5	+	12	1487	c.1311A>G	c.(1309-1311)acA>acG	p.T437T		NM_030783.1	NP_110410.1	Q9BVG9	PTSS2_HUMAN	phosphatidylserine synthase 2	437					glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylserine biosynthetic process (GO:0006659)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	CDP-diacylglycerol-serine O-phosphatidyltransferase activity (GO:0003882)	p.T437T(1)		autonomic_ganglia(1)|breast(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(1)|lung(3)|skin(1)	9		all_cancers(49;1.59e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;2.76e-26)|Epithelial(43;2.56e-25)|OV - Ovarian serous cystadenocarcinoma(40;7.54e-20)|BRCA - Breast invasive adenocarcinoma(625;8.76e-05)|Lung(200;0.0407)|LUSC - Lung squamous cell carcinoma(625;0.0735)	Phosphatidylserine(DB00144)	GGGACATCACATTGAGGTACA	0.652																																						uc001lpj.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(1309-1311)ACA>ACG		phosphatidylserine synthase 2	Phosphatidylserine(DB00144)						65.0	54.0	58.0					11																	490429		2202	4300	6502	SO:0001819	synonymous_variant	81490					integral to membrane		g.chr11:490429A>G	BC001210	CCDS7696.1	11p15	2008-05-02			ENSG00000174915	ENSG00000174915			15463	protein-coding gene	gene with protein product		612793				14984733	Standard	NM_030783		Approved	PSS2	uc001lpj.3	Q9BVG9	OTTHUMG00000119087	ENST00000308020.5:c.1311A>G	11.37:g.490429A>G							p.T437T	NM_030783	NP_110410	Q9BVG9	PTSS2_HUMAN		all cancers(45;2.76e-26)|Epithelial(43;2.56e-25)|OV - Ovarian serous cystadenocarcinoma(40;7.54e-20)|BRCA - Breast invasive adenocarcinoma(625;8.76e-05)|Lung(200;0.0407)|LUSC - Lung squamous cell carcinoma(625;0.0735)	12	1487	+		all_cancers(49;1.59e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)	437			Cytoplasmic (Potential).			Silent	SNP	ENST00000308020.5	37	c.1311A>G	CCDS7696.1																																																																																				PASS	0.652	PTDSS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239301.2			39	13	39	13	---	---	---	---
MUC5B	727897	broad.mit.edu	37	11	1263098	1263098	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2766-01A-01D-1522-08	TCGA-66-2766-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	452b75d0-1818-46aa-8804-9cfc0bd66449	81a4d615-e95e-4c17-87f7-c06d8dd4975a	g.chr11:1263098C>G	ENST00000529681.1	+	31	5046	c.4988C>G	c.(4987-4989)aCa>aGa	p.T1663R	MUC5B_ENST00000447027.1_Missense_Mutation_p.T1666R|RP11-532E4.2_ENST00000532061.2_RNA	NM_002458.2	NP_002449.2	Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	1663	7 X Cys-rich subdomain repeats.|Thr-rich.				cellular protein metabolic process (GO:0044267)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to glucocorticoid stimulus (GO:0071385)|cellular response to retinoic acid (GO:0071300)|epithelial cell differentiation (GO:0030855)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|response to lipopolysaccharide (GO:0032496)|response to ozone (GO:0010193)|response to sulfur dioxide (GO:0010477)|response to vitamin A (GO:0033189)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)		p.T1663R(1)|p.T1666R(1)		cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		CCCAGATACACAAGCACCCTT	0.667																																						uc009ycr.1																			2	Substitution - Missense(2)		lung(2)		0						c.(7066-7068)ACA>AGA		SubName: Full=Mucin 5AC, oligomeric mucus/gel-forming;							38.0	47.0	44.0					11																	1263098		2042	4175	6217	SO:0001583	missense	727897				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding	g.chr11:1263098C>G	U95031, AF086604	CCDS44515.1, CCDS44515.2	11p15.5	2007-01-19	2006-03-14			ENSG00000117983		"""Mucins"""	7516	protein-coding gene	gene with protein product		600770	"""mucin 5, subtype B, tracheobronchial"""	MUC5		9804771	Standard	NM_002458		Approved	MG1	uc001lta.3	Q9HC84		ENST00000529681.1:c.4988C>G	11.37:g.1263098C>G	ENSP00000436812:p.Thr1663Arg					MUC5B_uc001ltb.2_Missense_Mutation_p.T1666R	p.T2356R	NM_017511	NP_059981	Q9HC84	MUC5B_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)	47	7193	+		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)	1663			7 X Cys-rich subdomain repeats.|Thr-rich.		O00447|O00573|O14985|O15494|O95291|O95451|Q14881|Q7M4S5|Q99552|Q9UE28	Missense_Mutation	SNP	ENST00000529681.1	37	c.7067C>G	CCDS44515.2	.	.	.	.	.	.	.	.	.	.	c	8.354	0.831494	0.16820	.	.	ENSG00000117983	ENST00000529681;ENST00000447027;ENST00000349637;ENST00000406844	T;T	0.18016	2.24;2.43	2.99	2.99	0.34606	.	.	.	.	.	T	0.23649	0.0572	N	0.24115	0.695	0.09310	N	1	D;D	0.63046	0.992;0.992	D;D	0.63488	0.915;0.915	T	0.06092	-1.0846	9	0.87932	D	0	.	9.3687	0.38241	0.0:0.8886:0.0:0.1114	.	2356;1666	A7Y9J9;E9PBJ0	.;.	R	1663;1666;1664;1733	ENSP00000436812:T1663R;ENSP00000415793:T1666R	ENSP00000343037:T1664R	T	+	2	0	MUC5B	1219674	0.001000	0.12720	0.006000	0.13384	0.115000	0.19883	0.461000	0.21940	1.373000	0.46208	0.306000	0.20318	ACA		PASS	0.667	MUC5B-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000390041.2	XM_001126093		11	13	11	13	---	---	---	---
MUC5B	727897	broad.mit.edu	37	11	1264937	1264937	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2766-01A-01D-1522-08	TCGA-66-2766-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	452b75d0-1818-46aa-8804-9cfc0bd66449	81a4d615-e95e-4c17-87f7-c06d8dd4975a	g.chr11:1264937C>G	ENST00000529681.1	+	31	6885	c.6827C>G	c.(6826-6828)aCc>aGc	p.T2276S	MUC5B_ENST00000447027.1_Missense_Mutation_p.T2279S|RP11-532E4.2_ENST00000532061.2_RNA	NM_002458.2	NP_002449.2	Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	2276	7 X Cys-rich subdomain repeats.|Thr-rich.				cellular protein metabolic process (GO:0044267)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to glucocorticoid stimulus (GO:0071385)|cellular response to retinoic acid (GO:0071300)|epithelial cell differentiation (GO:0030855)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|response to lipopolysaccharide (GO:0032496)|response to ozone (GO:0010193)|response to sulfur dioxide (GO:0010477)|response to vitamin A (GO:0033189)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)		p.T2276S(1)|p.T2279S(1)		cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		CCGGGCCACACCACGGCCACC	0.682																																						uc009ycr.1																			2	Substitution - Missense(2)		lung(2)		0						c.(8740-8742)ACC>AGC		SubName: Full=Mucin 5AC, oligomeric mucus/gel-forming;							104.0	142.0	129.0					11																	1264937		2142	4227	6369	SO:0001583	missense	727897				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding	g.chr11:1264937C>G	U95031, AF086604	CCDS44515.1, CCDS44515.2	11p15.5	2007-01-19	2006-03-14			ENSG00000117983		"""Mucins"""	7516	protein-coding gene	gene with protein product		600770	"""mucin 5, subtype B, tracheobronchial"""	MUC5		9804771	Standard	NM_002458		Approved	MG1	uc001lta.3	Q9HC84		ENST00000529681.1:c.6827C>G	11.37:g.1264937C>G	ENSP00000436812:p.Thr2276Ser					MUC5B_uc001ltb.2_Missense_Mutation_p.T2279S	p.T2914S	NM_017511	NP_059981	Q9HC84	MUC5B_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)	48	8867	+		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)	2276			7 X Cys-rich subdomain repeats.|Thr-rich.		O00447|O00573|O14985|O15494|O95291|O95451|Q14881|Q7M4S5|Q99552|Q9UE28	Missense_Mutation	SNP	ENST00000529681.1	37	c.8741C>G	CCDS44515.2	.	.	.	.	.	.	.	.	.	.	c	8.801	0.932859	0.18131	.	.	ENSG00000117983	ENST00000529681;ENST00000447027;ENST00000349637;ENST00000406844	T;T	0.25250	1.81;2.13	2.99	2.04	0.26737	.	.	.	.	.	T	0.24509	0.0594	L	0.58101	1.795	0.09310	N	1	B;B	0.29862	0.259;0.259	B;B	0.25759	0.063;0.063	T	0.18272	-1.0342	9	0.87932	D	0	.	9.1219	0.36793	0.1645:0.6761:0.1593:0.0	.	2914;2279	A7Y9J9;E9PBJ0	.;.	S	2276;2279;2277;2291	ENSP00000436812:T2276S;ENSP00000415793:T2279S	ENSP00000343037:T2277S	T	+	2	0	MUC5B	1221513	0.002000	0.14202	0.000000	0.03702	0.173000	0.22820	1.494000	0.35616	0.552000	0.29026	0.305000	0.20034	ACC		PASS	0.682	MUC5B-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000390041.2	XM_001126093		34	71	34	71	---	---	---	---
MUC5B	727897	broad.mit.edu	37	11	1273698	1273698	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2766-01A-01D-1522-08	TCGA-66-2766-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	452b75d0-1818-46aa-8804-9cfc0bd66449	81a4d615-e95e-4c17-87f7-c06d8dd4975a	g.chr11:1273698C>T	ENST00000529681.1	+	32	15047	c.14989C>T	c.(14989-14991)Ccg>Tcg	p.P4997S	MUC5B_ENST00000447027.1_Missense_Mutation_p.P5000S|RP11-532E4.2_ENST00000532061.2_RNA	NM_002458.2	NP_002449.2	Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	4997					cellular protein metabolic process (GO:0044267)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to glucocorticoid stimulus (GO:0071385)|cellular response to retinoic acid (GO:0071300)|epithelial cell differentiation (GO:0030855)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|response to lipopolysaccharide (GO:0032496)|response to ozone (GO:0010193)|response to sulfur dioxide (GO:0010477)|response to vitamin A (GO:0033189)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)		p.P4997S(1)|p.P4952S(1)		cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		GTCCTCCGCCCCGCTGTCCTC	0.692																																						uc009ycr.1																			2	Substitution - Missense(2)		lung(2)		0						c.(15955-15957)CCG>TCG		SubName: Full=Mucin 5AC, oligomeric mucus/gel-forming;							36.0	46.0	43.0					11																	1273698		2102	4193	6295	SO:0001583	missense	727897				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding	g.chr11:1273698C>T	U95031, AF086604	CCDS44515.1, CCDS44515.2	11p15.5	2007-01-19	2006-03-14			ENSG00000117983		"""Mucins"""	7516	protein-coding gene	gene with protein product		600770	"""mucin 5, subtype B, tracheobronchial"""	MUC5		9804771	Standard	NM_002458		Approved	MG1	uc001lta.3	Q9HC84		ENST00000529681.1:c.14989C>T	11.37:g.1273698C>T	ENSP00000436812:p.Pro4997Ser					MUC5B_uc001ltb.2_Missense_Mutation_p.P5000S	p.P5319S	NM_017511	NP_059981	Q9HC84	MUC5B_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)	53	16081	+		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)	4997					O00447|O00573|O14985|O15494|O95291|O95451|Q14881|Q7M4S5|Q99552|Q9UE28	Missense_Mutation	SNP	ENST00000529681.1	37	c.15955C>T	CCDS44515.2	.	.	.	.	.	.	.	.	.	.	C	10.04	1.242011	0.22796	.	.	ENSG00000117983	ENST00000529681;ENST00000447027;ENST00000349637;ENST00000406844	T;T	0.19669	2.13;2.34	4.63	-6.64	0.01801	.	.	.	.	.	T	0.08044	0.0201	N	0.11427	0.14	0.09310	N	1	B;B	0.18461	0.028;0.028	B;B	0.13407	0.009;0.009	T	0.33445	-0.9868	9	0.87932	D	0	.	2.1905	0.03898	0.3156:0.4753:0.1042:0.1049	.	5319;5000	A7Y9J9;E9PBJ0	.;.	S	4997;5000;4941;4696	ENSP00000436812:P4997S;ENSP00000415793:P5000S	ENSP00000343037:P4941S	P	+	1	0	MUC5B	1230274	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.178000	0.03093	-1.379000	0.02118	-0.305000	0.09177	CCG		PASS	0.692	MUC5B-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000390041.2	XM_001126093		14	25	14	25	---	---	---	---
ZNF195	7748	broad.mit.edu	37	11	3392296	3392296	+	Silent	SNP	G	G	A			TCGA-66-2766-01A-01D-1522-08	TCGA-66-2766-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	452b75d0-1818-46aa-8804-9cfc0bd66449	81a4d615-e95e-4c17-87f7-c06d8dd4975a	g.chr11:3392296G>A	ENST00000399602.4	-	3	261	c.135C>T	c.(133-135)ctC>ctT	p.L45L	AC123788.1_ENST00000581561.1_RNA|ZNF195_ENST00000526601.1_Silent_p.L49L|ZNF195_ENST00000528796.1_Silent_p.L45L|ZNF195_ENST00000005082.9_Silent_p.L45L|ZNF195_ENST00000527386.1_5'UTR|ZNF195_ENST00000438262.2_Silent_p.L49L|ZNF195_ENST00000343338.7_Silent_p.L49L|ZNF195_ENST00000429541.2_Silent_p.L49L|ZNF195_ENST00000354599.6_Silent_p.L45L	NM_001130520.2	NP_001123992.1	O14628	ZN195_HUMAN	zinc finger protein 195	45	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)|zinc ion binding (GO:0008270)	p.L45L(1)		endometrium(4)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)	17		Medulloblastoma(188;0.00106)|Breast(177;0.00328)|all_neural(188;0.00681)|Ovarian(85;0.00965)		BRCA - Breast invasive adenocarcinoma(625;0.0361)|LUSC - Lung squamous cell carcinoma(625;0.2)		TACAGACAGTGAGACCTGTTT	0.448																																						uc001lxt.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(133-135)CTC>CTT		zinc finger protein 195 isoform 1							97.0	99.0	98.0					11																	3392296		2109	4262	6371	SO:0001819	synonymous_variant	7748				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr11:3392296G>A		CCDS41604.1, CCDS44521.1, CCDS44522.1, CCDS55736.1, CCDS55737.1, CCDS58111.1	11p15.5	2013-01-08			ENSG00000005801	ENSG00000005801		"""Zinc fingers, C2H2-type"", ""-"""	12986	protein-coding gene	gene with protein product		602187				9344677	Standard	NM_001130520		Approved		uc001lxt.3	O14628	OTTHUMG00000011694	ENST00000399602.4:c.135C>T	11.37:g.3392296G>A						ZNF195_uc001lxv.2_Silent_p.L45L|ZNF195_uc001lxs.2_Silent_p.L45L|ZNF195_uc010qxr.1_Silent_p.L49L|ZNF195_uc009ydz.2_Silent_p.L49L|ZNF195_uc001lxu.2_Silent_p.L49L	p.L45L	NM_001130520	NP_001123992	O14628	ZN195_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.0361)|LUSC - Lung squamous cell carcinoma(625;0.2)	3	313	-		Medulloblastoma(188;0.00106)|Breast(177;0.00328)|all_neural(188;0.00681)|Ovarian(85;0.00965)	45			KRAB.		A8K234|B3KTK2|B4DEL0|C9JLY9|L7MNK2|Q0VAJ6|Q658N8|Q6ZNA9	Silent	SNP	ENST00000399602.4	37	c.135C>T	CCDS44522.1																																																																																				PASS	0.448	ZNF195-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000032321.2			65	280	65	280	---	---	---	---
OR51B2	79345	broad.mit.edu	37	11	5344605	5344605	+	Missense_Mutation	SNP	T	T	C			TCGA-66-2766-01A-01D-1522-08	TCGA-66-2766-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	452b75d0-1818-46aa-8804-9cfc0bd66449	81a4d615-e95e-4c17-87f7-c06d8dd4975a	g.chr11:5344605T>C	ENST00000328813.2	-	1	977	c.923A>G	c.(922-924)cAt>cGt	p.H308R	HBG2_ENST00000380252.1_Intron|HBG2_ENST00000380259.2_Intron|HBE1_ENST00000380237.1_Intron	NM_033180.4	NP_149420.4	Q9Y5P1	O51B2_HUMAN	olfactory receptor, family 51, subfamily B, member 2	308						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.H308R(1)		NS(1)|biliary_tract(1)|central_nervous_system(1)|large_intestine(6)|lung(21)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	35		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;2.9e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		ACTAAACCTATGTTTAGATAA	0.368																																						uc001mao.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(1)	3						c.(922-924)CAT>CGT		olfactory receptor, family 51, subfamily B,							72.0	69.0	70.0					11																	5344605		2201	4297	6498	SO:0001583	missense	79345				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:5344605T>C	AF399503	CCDS31377.1	11p15.4	2012-08-09			ENSG00000184881	ENSG00000184881		"""GPCR / Class A : Olfactory receptors"""	14703	protein-coding gene	gene with protein product				OR51B1P			Standard	NM_033180		Approved		uc001mao.1	Q9Y5P1	OTTHUMG00000066682	ENST00000328813.2:c.923A>G	11.37:g.5344605T>C	ENSP00000327540:p.His308Arg					HBG2_uc001mak.1_Intron|HBE1_uc001mam.1_Intron	p.H308R	NM_033180	NP_149420	Q9Y5P1	O51B2_HUMAN		Epithelial(150;2.9e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	1	978	-		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)	308			Cytoplasmic (Potential).		Q96RD4	Missense_Mutation	SNP	ENST00000328813.2	37	c.923A>G	CCDS31377.1	.	.	.	.	.	.	.	.	.	.	T	2.392	-0.339641	0.05243	.	.	ENSG00000184881	ENST00000328813	T	0.34472	1.36	3.82	-0.0953	0.13641	.	1.040950	0.07713	U	0.942309	T	0.13072	0.0317	N	0.01729	-0.75	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.22661	-1.0210	10	0.34782	T	0.22	.	3.9377	0.09313	0.1571:0.1949:0.0:0.648	.	308	Q9Y5P1	O51B2_HUMAN	R	308	ENSP00000327540:H308R	ENSP00000327540:H308R	H	-	2	0	OR51B2	5301181	0.008000	0.16893	0.000000	0.03702	0.010000	0.07245	-0.321000	0.08018	0.099000	0.17552	-0.341000	0.08007	CAT		PASS	0.368	OR51B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142983.1	NM_033180		37	85	37	85	---	---	---	---
OR52E8	390079	broad.mit.edu	37	11	5877992	5877992	+	Missense_Mutation	SNP	T	T	A			TCGA-66-2766-01A-01D-1522-08	TCGA-66-2766-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	452b75d0-1818-46aa-8804-9cfc0bd66449	81a4d615-e95e-4c17-87f7-c06d8dd4975a	g.chr11:5877992T>A	ENST00000537935.1	-	1	972	c.941A>T	c.(940-942)aAg>aTg	p.K314M	TRIM5_ENST00000380027.1_Intron	NM_001005168.1	NP_001005168.1	Q6IFG1	O52E8_HUMAN	olfactory receptor, family 52, subfamily E, member 8	314						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.K314M(1)		endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	20		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.114)		Epithelial(150;2.37e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GTGATTGGTCTTGAGAAAAAT	0.433																																						uc010qzr.1																			1	Substitution - Missense(1)		lung(1)	skin(2)	2						c.(940-942)AAG>ATG		olfactory receptor, family 52, subfamily E,							71.0	86.0	81.0					11																	5877992		2142	4296	6438	SO:0001583	missense	390079				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:5877992T>A	BK004301	CCDS31400.1	11p15.4	2012-08-09	2003-12-15		ENSG00000183269	ENSG00000183269		"""GPCR / Class A : Olfactory receptors"""	15217	protein-coding gene	gene with protein product			"""olfactory receptor, family 52, subfamily E, member 8 pseudogene"""				Standard	NM_001005168		Approved		uc010qzr.2	Q6IFG1	OTTHUMG00000168803	ENST00000537935.1:c.941A>T	11.37:g.5877992T>A	ENSP00000444054:p.Lys314Met					TRIM5_uc001mbq.1_Intron	p.K314M	NM_001005168	NP_001005168	Q6IFG1	O52E8_HUMAN		Epithelial(150;2.37e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	1	941	-		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.114)	314			Cytoplasmic (Potential).		B9EH38	Missense_Mutation	SNP	ENST00000537935.1	37	c.941A>T	CCDS31400.1	.	.	.	.	.	.	.	.	.	.	T	8.909	0.958280	0.18507	.	.	ENSG00000183269	ENST00000537935	T	0.39056	1.1	2.49	-0.266	0.12942	.	0.499782	0.16197	N	0.225118	T	0.39064	0.1064	M	0.75085	2.285	0.09310	N	1	B	0.15930	0.015	B	0.19946	0.027	T	0.39333	-0.9619	10	0.56958	D	0.05	.	6.6006	0.22699	0.0:0.3923:0.0:0.6077	.	314	Q6IFG1	O52E8_HUMAN	M	314	ENSP00000444054:K314M	ENSP00000444054:K314M	K	-	2	0	OR52E8	5834568	0.052000	0.20516	0.000000	0.03702	0.209000	0.24338	1.053000	0.30442	-0.174000	0.10743	0.448000	0.29417	AAG		PASS	0.433	OR52E8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401145.1	NM_001005168		185	235	185	235	---	---	---	---
OR52B2	255725	broad.mit.edu	37	11	6190650	6190650	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2766-01A-01D-1522-08	TCGA-66-2766-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	452b75d0-1818-46aa-8804-9cfc0bd66449	81a4d615-e95e-4c17-87f7-c06d8dd4975a	g.chr11:6190650C>T	ENST00000530810.1	-	1	988	c.907G>A	c.(907-909)Gag>Aag	p.E303K	RP11-290F24.3_ENST00000529961.1_RNA	NM_001004052.1	NP_001004052.1	Q96RD2	O52B2_HUMAN	olfactory receptor, family 52, subfamily B, member 2	303						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.E303K(2)		NS(1)|central_nervous_system(3)|endometrium(1)|large_intestine(1)|lung(15)	21		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;3.69e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GCTACACCCTCACGTATCTGC	0.488																																					NSCLC(5;186 261 1778 7098 14207)	uc010qzy.1																			2	Substitution - Missense(2)		lung(2)		0						c.(907-909)GAG>AAG		olfactory receptor, family 52, subfamily B,							76.0	74.0	75.0					11																	6190650		1943	4145	6088	SO:0001583	missense	255725				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:6190650C>T	AB065763	CCDS53598.1	11p15.4	2012-08-09				ENSG00000255307		"""GPCR / Class A : Olfactory receptors"""	15207	protein-coding gene	gene with protein product							Standard	NM_001004052		Approved		uc010qzy.2	Q96RD2		ENST00000530810.1:c.907G>A	11.37:g.6190650C>T	ENSP00000432011:p.Glu303Lys						p.E303K	NM_001004052	NP_001004052	Q96RD2	O52B2_HUMAN		Epithelial(150;3.69e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)	1	907	-		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)	303			Cytoplasmic (Potential).		Q8NGM7	Missense_Mutation	SNP	ENST00000530810.1	37	c.907G>A	CCDS53598.1	.	.	.	.	.	.	.	.	.	.	C	18.60	3.658985	0.67586	.	.	ENSG00000255307	ENST00000530810	T	0.35236	1.32	5.09	5.09	0.68999	.	.	.	.	.	T	0.22205	0.0535	N	0.14661	0.345	0.26224	N	0.979117	B	0.32245	0.361	B	0.26770	0.073	T	0.10359	-1.0633	9	0.56958	D	0.05	.	11.1472	0.48436	0.0:0.9162:0.0:0.0838	.	303	Q96RD2	O52B2_HUMAN	K	303	ENSP00000432011:E303K	ENSP00000432011:E303K	E	-	1	0	OR52B2	6147226	0.032000	0.19561	0.425000	0.26659	0.495000	0.33615	0.749000	0.26320	2.650000	0.89964	0.453000	0.30009	GAG		PASS	0.488	OR52B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385977.1	NM_001004052		71	83	71	83	---	---	---	---
PPFIBP2	8495	broad.mit.edu	37	11	7672958	7672958	+	Silent	SNP	C	C	T			TCGA-66-2766-01A-01D-1522-08	TCGA-66-2766-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	452b75d0-1818-46aa-8804-9cfc0bd66449	81a4d615-e95e-4c17-87f7-c06d8dd4975a	g.chr11:7672958C>T	ENST00000299492.4	+	23	2707	c.2319C>T	c.(2317-2319)ctC>ctT	p.L773L	PPFIBP2_ENST00000530582.1_3'UTR|PPFIBP2_ENST00000530181.1_Silent_p.L630L|PPFIBP2_ENST00000533792.1_Silent_p.L615L|PPFIBP2_ENST00000528883.1_Silent_p.L661L	NM_003621.3	NP_003612	Q8ND30	LIPB2_HUMAN	PTPRF interacting protein, binding protein 2 (liprin beta 2)	773	SAM 3. {ECO:0000255|PROSITE- ProRule:PRU00184}.				cell-matrix adhesion (GO:0007160)|signal transduction (GO:0007165)	extracellular space (GO:0005615)|intracellular (GO:0005622)|presynaptic active zone (GO:0048786)	DNA binding (GO:0003677)|integrase activity (GO:0008907)	p.L773L(1)		breast(8)|cervix(1)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	32				Epithelial(150;2.01e-07)|BRCA - Breast invasive adenocarcinoma(625;0.236)		AGACGCTCCTCAGGCGCCACC	0.562																																						uc001mfj.3																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|breast(2)	4						c.(2317-2319)CTC>CTT		PTPRF interacting protein, binding protein 2							131.0	116.0	121.0					11																	7672958		2201	4296	6497	SO:0001819	synonymous_variant	8495				cell communication|DNA integration	intracellular	DNA binding|integrase activity|protein binding	g.chr11:7672958C>T	AF034803	CCDS31419.1, CCDS58116.1, CCDS58117.1	11p15.4	2013-01-10			ENSG00000166387	ENSG00000166387		"""Sterile alpha motif (SAM) domain containing"""	9250	protein-coding gene	gene with protein product		603142				9624153	Standard	NM_003621		Approved	Cclp1	uc001mfj.5	Q8ND30	OTTHUMG00000165617	ENST00000299492.4:c.2319C>T	11.37:g.7672958C>T						PPFIBP2_uc010rbb.1_Silent_p.L696L|PPFIBP2_uc001mfk.1_Intron|PPFIBP2_uc010rbc.1_Silent_p.L707L|PPFIBP2_uc010rbe.1_Silent_p.L661L|PPFIBP2_uc001mfl.3_Silent_p.L630L|PPFIBP2_uc009yfj.1_Silent_p.L417L	p.L773L	NM_003621	NP_003612	Q8ND30	LIPB2_HUMAN		Epithelial(150;2.01e-07)|BRCA - Breast invasive adenocarcinoma(625;0.236)	23	2707	+			773			SAM 3.		B7Z433|E9PK77|O75337|Q8WW26	Silent	SNP	ENST00000299492.4	37	c.2319C>T	CCDS31419.1	.	.	.	.	.	.	.	.	.	.	C	8.949	0.967678	0.18659	.	.	ENSG00000166387	ENST00000534552	.	.	.	5.77	2.92	0.33932	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-14.0415	5.215	0.15338	0.1419:0.6297:0.0:0.2285	.	.	.	.	X	5	.	.	Q	+	1	0	PPFIBP2	7629534	1.000000	0.71417	1.000000	0.80357	0.910000	0.53928	1.955000	0.40372	0.463000	0.27118	-0.126000	0.14955	CAG		PASS	0.562	PPFIBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385345.2	NM_003621		86	102	86	102	---	---	---	---
EIF3F	8665	broad.mit.edu	37	11	8016065	8016065	+	Splice_Site	SNP	G	G	T	rs113494623		TCGA-66-2766-01A-01D-1522-08	TCGA-66-2766-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	452b75d0-1818-46aa-8804-9cfc0bd66449	81a4d615-e95e-4c17-87f7-c06d8dd4975a	g.chr11:8016065G>T	ENST00000533626.1	+	7	1371		c.e7+1		EIF3F_ENST00000309828.4_Splice_Site|EIF3F_ENST00000449102.2_Splice_Site|EIF3F_ENST00000537635.1_Splice_Site					eukaryotic translation initiation factor 3, subunit F									p.?(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(5)|skin(1)	13				Epithelial(150;1.44e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)		CGCATCGGAGGTGAGTAACCT	0.537																																						uc001mfw.2																			1	Unknown(1)		lung(1)	lung(1)	1						c.e5+1		eukaryotic translation initiation factor 3,							83.0	63.0	70.0					11																	8016065		2201	4296	6497	SO:0001630	splice_region_variant	8665					cytosol|eukaryotic translation initiation factor 3 complex	protein binding|translation initiation factor activity	g.chr11:8016065G>T	U94855, AK093511	CCDS7785.1	11p15.4	2010-03-10	2007-07-27	2007-07-27	ENSG00000175390	ENSG00000175390			3275	protein-coding gene	gene with protein product		603914	"""eukaryotic translation initiation factor 3, subunit 5 epsilon, 47kDa"""	EIF3S5		9341143	Standard	NM_003754		Approved	eIF3-epsilon, eIF3-p47, eIF3f	uc001mfw.3	O00303		ENST00000533626.1:c.745+1G>T	11.37:g.8016065G>T						EIF3F_uc010rbj.1_Splice_Site_p.V100_splice	p.V249_splice	NM_003754	NP_003745	O00303	EIF3F_HUMAN		Epithelial(150;1.44e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)	5	778	+									Splice_Site	SNP	ENST00000533626.1	37	c.745_splice	CCDS7785.1	.	.	.	.	.	.	.	.	.	.	G	20.3	3.967111	0.74131	.	.	ENSG00000175390	ENST00000533626;ENST00000537635;ENST00000309828;ENST00000538607;ENST00000449102	.	.	.	5.11	5.11	0.69529	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.8464	0.85982	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	EIF3F	7972641	1.000000	0.71417	1.000000	0.80357	0.846000	0.48090	9.144000	0.94629	2.765000	0.95021	0.655000	0.94253	.		PASS	0.537	EIF3F-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000385713.2	NM_003754	Intron	26	35	26	35	---	---	---	---
TTC17	55761	broad.mit.edu	37	11	43429001	43429001	+	Missense_Mutation	SNP	G	G	C			TCGA-66-2766-01A-01D-1522-08	TCGA-66-2766-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	452b75d0-1818-46aa-8804-9cfc0bd66449	81a4d615-e95e-4c17-87f7-c06d8dd4975a	g.chr11:43429001G>C	ENST00000039989.4	+	15	1952	c.1938G>C	c.(1936-1938)ttG>ttC	p.L646F	TTC17_ENST00000526774.1_3'UTR|TTC17_ENST00000299240.6_Missense_Mutation_p.L646F	NM_018259.5	NP_060729.2	Q96AE7	TTC17_HUMAN	tetratricopeptide repeat domain 17	646					actin filament polymerization (GO:0030041)|cilium organization (GO:0044782)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)		p.L646F(1)		breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(27)|ovary(5)|prostate(3)|skin(3)	53						AGAGGGCTTTGAATTTAGCTC	0.438																																						uc001mxi.2																			1	Substitution - Missense(1)		lung(1)	ovary(5)	5						c.(1936-1938)TTG>TTC		tetratricopeptide repeat domain 17							124.0	106.0	112.0					11																	43429001		2203	4300	6503	SO:0001583	missense	55761						binding	g.chr11:43429001G>C	AK001540	CCDS31466.1	11p11.2	2013-01-10			ENSG00000052841	ENSG00000052841		"""Tetratricopeptide (TTC) repeat domain containing"""	25596	protein-coding gene	gene with protein product						12477932	Standard	NM_018259		Approved	FLJ10890	uc001mxi.3	Q96AE7	OTTHUMG00000166398	ENST00000039989.4:c.1938G>C	11.37:g.43429001G>C	ENSP00000039989:p.Leu646Phe					TTC17_uc001mxh.2_Missense_Mutation_p.L646F|TTC17_uc010rfj.1_Missense_Mutation_p.L589F|TTC17_uc001mxj.2_Missense_Mutation_p.L416F	p.L646F	NM_018259	NP_060729	Q96AE7	TTC17_HUMAN			15	1952	+			646			TPR 2.		G3XAB3|Q8NEC0	Missense_Mutation	SNP	ENST00000039989.4	37	c.1938G>C	CCDS31466.1	.	.	.	.	.	.	.	.	.	.	G	13.14	2.147343	0.37923	.	.	ENSG00000052841	ENST00000299240;ENST00000039989	T;T	0.61040	0.14;0.14	5.63	5.63	0.86233	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.064380	0.64402	D	0.000008	T	0.47358	0.1441	L	0.29908	0.895	0.40559	D	0.981197	B;B;B	0.30406	0.074;0.034;0.278	B;B;B	0.34138	0.055;0.014;0.176	T	0.50372	-0.8836	10	0.52906	T	0.07	-7.9368	11.087	0.48093	0.0:0.1205:0.6826:0.1969	.	646;646;646	Q8NEC0;Q96AE7;G3XAB3	.;TTC17_HUMAN;.	F	646	ENSP00000299240:L646F;ENSP00000039989:L646F	ENSP00000039989:L646F	L	+	3	2	TTC17	43385577	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	2.559000	0.45888	2.652000	0.90054	0.591000	0.81541	TTG		PASS	0.438	TTC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389577.2	NM_018259		33	170	33	170	---	---	---	---
ARHGAP1	392	broad.mit.edu	37	11	46717598	46717598	+	Silent	SNP	C	C	G			TCGA-66-2766-01A-01D-1522-08	TCGA-66-2766-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	452b75d0-1818-46aa-8804-9cfc0bd66449	81a4d615-e95e-4c17-87f7-c06d8dd4975a	g.chr11:46717598C>G	ENST00000311956.4	-	2	157	c.60G>C	c.(58-60)ctG>ctC	p.L20L		NM_004308.3	NP_004299.1	Q07960	RHG01_HUMAN	Rho GTPase activating protein 1	20					positive regulation of signal transduction (GO:0009967)|regulation of small GTPase mediated signal transduction (GO:0051056)|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)|ruffle (GO:0001726)	Rac GTPase activator activity (GO:0030675)|Rho GTPase activator activity (GO:0005100)|SH3/SH2 adaptor activity (GO:0005070)	p.L20L(1)		endometrium(1)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	11		Lung NSC(402;1.76e-12)|all_lung(304;1.3e-11)		GBM - Glioblastoma multiforme(35;5.17e-06)|BRCA - Breast invasive adenocarcinoma(625;0.00112)|Lung(87;0.153)		TCAGCTGGTTCAGAGCCTCGC	0.577																																						uc001ndd.2																			1	Substitution - coding silent(1)		lung(1)	skin(1)	1						c.(58-60)CTG>CTC		Rho GTPase activating protein 1							75.0	58.0	64.0					11																	46717598		2201	4299	6500	SO:0001819	synonymous_variant	392				Rho protein signal transduction	cytosol|intracellular membrane-bounded organelle	SH3 domain binding|SH3/SH2 adaptor activity	g.chr11:46717598C>G	BC018118	CCDS7922.1	11p11.2	2006-04-11			ENSG00000175220	ENSG00000175220		"""Rho GTPase activating proteins"""	673	protein-coding gene	gene with protein product		602732				8288572	Standard	NM_004308		Approved	RhoGAP, p50rhoGAP, CDC42GAP, Cdc42GAP	uc001ndd.4	Q07960	OTTHUMG00000166567	ENST00000311956.4:c.60G>C	11.37:g.46717598C>G						ARHGAP1_uc009yle.1_Silent_p.L20L|ARHGAP1_uc009ylf.1_Silent_p.L20L	p.L20L	NM_004308	NP_004299	Q07960	RHG01_HUMAN		GBM - Glioblastoma multiforme(35;5.17e-06)|BRCA - Breast invasive adenocarcinoma(625;0.00112)|Lung(87;0.153)	2	129	-		Lung NSC(402;1.76e-12)|all_lung(304;1.3e-11)	20					D3DQQ6	Silent	SNP	ENST00000311956.4	37	c.60G>C	CCDS7922.1	.	.	.	.	.	.	.	.	.	.	C	9.667	1.145643	0.21288	.	.	ENSG00000175220	ENST00000528837	.	.	.	5.2	5.2	0.72013	.	.	.	.	.	T	0.61924	0.2386	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.60161	-0.7317	4	.	.	.	.	10.895	0.47017	0.1353:0.7168:0.1479:0.0	.	.	.	.	Q	18	.	.	E	-	1	0	ARHGAP1	46674174	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	0.759000	0.26461	2.448000	0.82819	0.555000	0.69702	GAA		PASS	0.577	ARHGAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390472.1	NM_004308		23	31	23	31	---	---	---	---
OR4A15	81328	broad.mit.edu	37	11	55135615	55135615	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2766-01A-01D-1522-08	TCGA-66-2766-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	452b75d0-1818-46aa-8804-9cfc0bd66449	81a4d615-e95e-4c17-87f7-c06d8dd4975a	g.chr11:55135615C>T	ENST00000314706.3	+	1	256	c.256C>T	c.(256-258)Ccc>Tcc	p.P86S		NM_001005275.1	NP_001005275.1	Q8NGL6	O4A15_HUMAN	olfactory receptor, family 4, subfamily A, member 15	86						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.P86S(1)		NS(2)|breast(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(48)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	71						CCTGGGTTCCCCCATGTACTT	0.408																																						uc010rif.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(256-258)CCC>TCC		olfactory receptor, family 4, subfamily A,							105.0	101.0	102.0					11																	55135615		2201	4296	6497	SO:0001583	missense	81328				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55135615C>T	AB065776	CCDS31500.1	11q11	2012-08-09			ENSG00000181958	ENSG00000181958		"""GPCR / Class A : Olfactory receptors"""	15152	protein-coding gene	gene with protein product							Standard	NM_001005275		Approved		uc010rif.2	Q8NGL6	OTTHUMG00000166711	ENST00000314706.3:c.256C>T	11.37:g.55135615C>T	ENSP00000325065:p.Pro86Ser						p.P86S	NM_001005275	NP_001005275	Q8NGL6	O4A15_HUMAN			1	256	+			86			Helical; Name=2; (Potential).		Q6IFL4|Q96R65	Missense_Mutation	SNP	ENST00000314706.3	37	c.256C>T	CCDS31500.1	.	.	.	.	.	.	.	.	.	.	c	32	5.138152	0.94560	.	.	ENSG00000181958	ENST00000314706	T	0.02015	4.5	3.48	3.48	0.39840	GPCR, rhodopsin-like superfamily (1);	0.000000	0.49916	D	0.000134	T	0.16811	0.0404	M	0.94063	3.49	0.41488	D	0.988204	D	0.89917	1.0	D	0.87578	0.998	T	0.04946	-1.0916	10	0.87932	D	0	.	12.5491	0.56216	0.0:1.0:0.0:0.0	.	86	Q8NGL6	O4A15_HUMAN	S	86	ENSP00000325065:P86S	ENSP00000325065:P86S	P	+	1	0	OR4A15	54892191	0.998000	0.40836	0.165000	0.22776	0.962000	0.63368	6.512000	0.73737	1.785000	0.52413	0.492000	0.49549	CCC		PASS	0.408	OR4A15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391161.1	NM_001005275		124	128	124	128	---	---	---	---
OR5R1	219479	broad.mit.edu	37	11	56184900	56184900	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2766-01A-01D-1522-08	TCGA-66-2766-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	452b75d0-1818-46aa-8804-9cfc0bd66449	81a4d615-e95e-4c17-87f7-c06d8dd4975a	g.chr11:56184900G>T	ENST00000312253.1	-	1	808	c.809C>A	c.(808-810)aCa>aAa	p.T270K		NM_001004744.1	NP_001004744.1	Q8NH85	OR5R1_HUMAN	olfactory receptor, family 5, subfamily R, member 1	270						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.T270K(1)		NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(17)|ovary(2)|prostate(3)|stomach(1)|upper_aerodigestive_tract(1)	37	Esophageal squamous(21;0.00448)					CATCTTGTCTGTGTCCAAGGA	0.423																																						uc010rji.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(808-810)ACA>AAA		olfactory receptor, family 5, subfamily R,							176.0	165.0	169.0					11																	56184900		2201	4296	6497	SO:0001583	missense	219479				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:56184900G>T	AB065504	CCDS31530.1	11q11	2012-08-09		2004-03-10	ENSG00000174942	ENSG00000174942		"""GPCR / Class A : Olfactory receptors"""	14841	protein-coding gene	gene with protein product				OR5R1P			Standard	NM_001004744		Approved		uc010rji.2	Q8NH85	OTTHUMG00000154219	ENST00000312253.1:c.809C>A	11.37:g.56184900G>T	ENSP00000308595:p.Thr270Lys						p.T270K	NM_001004744	NP_001004744	Q8NH85	OR5R1_HUMAN			1	809	-	Esophageal squamous(21;0.00448)		270			Extracellular (Potential).			Missense_Mutation	SNP	ENST00000312253.1	37	c.809C>A	CCDS31530.1	.	.	.	.	.	.	.	.	.	.	G	11.57	1.676777	0.29783	.	.	ENSG00000174942	ENST00000312253	T	0.00099	8.73	5.62	4.68	0.58851	GPCR, rhodopsin-like superfamily (1);	0.000000	0.33670	U	0.004677	T	0.00241	0.0007	L	0.31207	0.915	0.09310	N	1	D	0.89917	1.0	D	0.80764	0.994	T	0.63449	-0.6635	10	0.51188	T	0.08	-7.3919	8.5701	0.33565	0.0734:0.0:0.6592:0.2674	.	270	Q8NH85	OR5R1_HUMAN	K	270	ENSP00000308595:T270K	ENSP00000308595:T270K	T	-	2	0	OR5R1	55941476	0.148000	0.22702	1.000000	0.80357	0.059000	0.15707	0.324000	0.19610	2.648000	0.89879	0.643000	0.83706	ACA		PASS	0.423	OR5R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334444.1	NM_001004744		149	154	149	154	---	---	---	---
OR1S1	219959	broad.mit.edu	37	11	57982280	57982280	+	Missense_Mutation	SNP	A	A	G			TCGA-66-2766-01A-01D-1522-08	TCGA-66-2766-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	452b75d0-1818-46aa-8804-9cfc0bd66449	81a4d615-e95e-4c17-87f7-c06d8dd4975a	g.chr11:57982280A>G	ENST00000309433.6	+	1	64	c.64A>G	c.(64-66)Atc>Gtc	p.I22V		NM_001004458.1	NP_001004458.1	Q8NH92	OR1S1_HUMAN	olfactory receptor, family 1, subfamily S, member 1	22						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.I22V(1)		breast(1)|central_nervous_system(1)|endometrium(24)|kidney(1)|large_intestine(1)|liver(1)|lung(10)|prostate(1)|skin(2)|stomach(3)|urinary_tract(3)	48		Breast(21;0.0589)				CCAAACCACCATCACTGAATT	0.403																																						uc010rkc.1																			1	Substitution - Missense(1)		lung(1)	breast(1)	1						c.(64-66)ATC>GTC		olfactory receptor, family 1, subfamily S,							201.0	184.0	190.0					11																	57982280		2201	4296	6497	SO:0001583	missense	219959				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:57982280A>G	BK004299	CCDS31546.1	11q12.1	2012-08-09			ENSG00000172774	ENSG00000172774		"""GPCR / Class A : Olfactory receptors"""	8227	protein-coding gene	gene with protein product							Standard	NM_001004458		Approved	OST034	uc010rkc.2	Q8NH92	OTTHUMG00000167463	ENST00000309433.6:c.64A>G	11.37:g.57982280A>G	ENSP00000311688:p.Ile22Val						p.I22V	NM_001004458	NP_001004458	Q8NH92	OR1S1_HUMAN			1	64	+		Breast(21;0.0589)	22			Extracellular (Potential).		Q6IFG3	Missense_Mutation	SNP	ENST00000309433.6	37	c.64A>G	CCDS31546.1	.	.	.	.	.	.	.	.	.	.	A	0.001	-3.271087	0.00021	.	.	ENSG00000172774	ENST00000309433	T	0.00351	7.97	3.45	-3.76	0.04359	.	1.236260	0.05798	N	0.611587	T	0.00073	0.0002	N	0.00890	-1.11	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.21280	-1.0250	10	0.07175	T	0.84	.	10.168	0.42893	0.4565:0.0:0.5435:0.0	.	22	Q8NH92	OR1S1_HUMAN	V	22	ENSP00000311688:I22V	ENSP00000311688:I22V	I	+	1	0	OR1S1	57738856	0.000000	0.05858	0.006000	0.13384	0.001000	0.01503	-4.016000	0.00313	-0.678000	0.05224	-1.413000	0.01118	ATC		PASS	0.403	OR1S1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394705.1	NM_001004458		140	126	140	126	---	---	---	---
OR5B2	390190	broad.mit.edu	37	11	58190240	58190240	+	Silent	SNP	A	A	C			TCGA-66-2766-01A-01D-1522-08	TCGA-66-2766-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	452b75d0-1818-46aa-8804-9cfc0bd66449	81a4d615-e95e-4c17-87f7-c06d8dd4975a	g.chr11:58190240A>C	ENST00000302581.2	-	1	546	c.495T>G	c.(493-495)tcT>tcG	p.S165S		NM_001005566.2	NP_001005566.1	Q96R09	OR5B2_HUMAN	olfactory receptor, family 5, subfamily B, member 2	165						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.S165S(1)		NS(2)|large_intestine(2)|lung(19)|ovary(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	Esophageal squamous(5;0.0027)	Breast(21;0.0778)				ATTTACAGAAAGAGAGACTGA	0.473																																						uc010rkg.1																			1	Substitution - coding silent(1)		lung(1)	ovary(3)	3						c.(493-495)TCT>TCG		olfactory receptor, family 5, subfamily B,							63.0	58.0	59.0					11																	58190240		2201	4295	6496	SO:0001819	synonymous_variant	390190				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:58190240A>C	AB065852	CCDS31550.1	11q12.1	2012-08-09			ENSG00000172365	ENSG00000172365		"""GPCR / Class A : Olfactory receptors"""	8323	protein-coding gene	gene with protein product							Standard	NM_001005566		Approved	OST073	uc010rkg.2	Q96R09	OTTHUMG00000167517	ENST00000302581.2:c.495T>G	11.37:g.58190240A>C							p.S165S	NM_001005566	NP_001005566	Q96R09	OR5B2_HUMAN			1	495	-	Esophageal squamous(5;0.0027)	Breast(21;0.0778)	165			Extracellular (Potential).		B2RNJ6|B9EGY7|Q6IEV7|Q8NGF5	Silent	SNP	ENST00000302581.2	37	c.495T>G	CCDS31550.1																																																																																				PASS	0.473	OR5B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394887.2	NM_001005566		9	73	9	73	---	---	---	---
OR5A1	219982	broad.mit.edu	37	11	59210735	59210735	+	Missense_Mutation	SNP	G	G	C			TCGA-66-2766-01A-01D-1522-08	TCGA-66-2766-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	452b75d0-1818-46aa-8804-9cfc0bd66449	81a4d615-e95e-4c17-87f7-c06d8dd4975a	g.chr11:59210735G>C	ENST00000302030.2	+	1	119	c.94G>C	c.(94-96)Gtg>Ctg	p.V32L		NM_001004728.1	NP_001004728.1	Q8NGJ0	OR5A1_HUMAN	olfactory receptor, family 5, subfamily A, member 1	32						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.V32L(1)		central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(14)|ovary(2)|prostate(2)|skin(3)|stomach(1)	28						CCTCCTCTTTGTGACCTTCCT	0.522																																						uc001nnx.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.(94-96)GTG>CTG		olfactory receptor, family 5, subfamily A,							131.0	124.0	126.0					11																	59210735		2201	4295	6496	SO:0001583	missense	219982				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:59210735G>C	AB065804	CCDS31561.1	11q12.1	2012-08-09			ENSG00000172320	ENSG00000172320		"""GPCR / Class A : Olfactory receptors"""	8319	protein-coding gene	gene with protein product				OR5A1P			Standard	NM_001004728		Approved	OST181	uc001nnx.1	Q8NGJ0	OTTHUMG00000167339	ENST00000302030.2:c.94G>C	11.37:g.59210735G>C	ENSP00000303096:p.Val32Leu						p.V32L	NM_001004728	NP_001004728	Q8NGJ0	OR5A1_HUMAN			1	94	+			32			Helical; Name=1; (Potential).		B9EH58|Q6IFF2|Q96RB1	Missense_Mutation	SNP	ENST00000302030.2	37	c.94G>C	CCDS31561.1	.	.	.	.	.	.	.	.	.	.	G	5.539	0.284277	0.10513	.	.	ENSG00000172320	ENST00000302030	T	0.00448	7.38	6.06	4.09	0.47781	.	0.478856	0.17421	N	0.174831	T	0.00271	0.0008	N	0.25201	0.72	0.24601	N	0.993776	B	0.10296	0.003	B	0.09377	0.004	T	0.26608	-1.0098	10	0.15952	T	0.53	-10.4171	9.8711	0.41175	0.0809:0.142:0.7771:0.0	.	32	Q8NGJ0	OR5A1_HUMAN	L	32	ENSP00000303096:V32L	ENSP00000303096:V32L	V	+	1	0	OR5A1	58967311	0.000000	0.05858	0.995000	0.50966	0.459000	0.32528	0.102000	0.15272	0.790000	0.33803	-0.355000	0.07637	GTG		PASS	0.522	OR5A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394233.1	NM_001004728		66	175	66	175	---	---	---	---
PATL1	219988	broad.mit.edu	37	11	59410359	59410359	+	Silent	SNP	C	C	T			TCGA-66-2766-01A-01D-1522-08	TCGA-66-2766-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	452b75d0-1818-46aa-8804-9cfc0bd66449	81a4d615-e95e-4c17-87f7-c06d8dd4975a	g.chr11:59410359C>T	ENST00000300146.9	-	16	2127	c.2043G>A	c.(2041-2043)caG>caA	p.Q681Q		NM_152716.2	NP_689929.2	Q86TB9	PATL1_HUMAN	protein associated with topoisomerase II homolog 1 (yeast)	681	Involved in nuclear spleckles localization.|Region C.				cytoplasmic mRNA processing body assembly (GO:0033962)|deadenylation-dependent decapping of nuclear-transcribed mRNA (GO:0000290)|exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|RNA metabolic process (GO:0016070)	cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|poly(G) binding (GO:0034046)|poly(U) RNA binding (GO:0008266)|RNA binding (GO:0003723)	p.Q681Q(2)		central_nervous_system(1)|endometrium(2)|lung(5)|ovary(1)|prostate(2)	11						TCACCTTGTTCTGGAGCACAG	0.438																																						uc001noe.3																			2	Substitution - coding silent(2)		lung(2)	ovary(1)	1						c.(2041-2043)CAG>CAA		protein associated with topoisomerase II homolog							206.0	196.0	199.0					11																	59410359		1986	4170	6156	SO:0001819	synonymous_variant	219988				cytoplasmic mRNA processing body assembly|deadenylation-dependent decapping of nuclear-transcribed mRNA	cytoplasmic mRNA processing body	protein binding|RNA binding	g.chr11:59410359C>T	AK094193	CCDS44613.1	11q12.1	2012-06-07	2007-10-18		ENSG00000166889	ENSG00000166889			26721	protein-coding gene	gene with protein product		614660				17936923	Standard	NM_152716		Approved	FLJ36874, Pat1b	uc001noe.4	Q86TB9	OTTHUMG00000167423	ENST00000300146.9:c.2043G>A	11.37:g.59410359C>T						PATL1_uc009yms.1_Silent_p.Q651Q	p.Q681Q	NM_152716	NP_689929	Q86TB9	PATL1_HUMAN			16	2186	-			681			Region C.		B3KXT9|Q2TA86|Q6P166|Q8N9M6|Q8NI63	Silent	SNP	ENST00000300146.9	37	c.2043G>A	CCDS44613.1																																																																																				PASS	0.438	PATL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394559.1	NM_152716		101	271	101	271	---	---	---	---
TCN1	6947	broad.mit.edu	37	11	59631459	59631459	+	Silent	SNP	G	G	T			TCGA-66-2766-01A-01D-1522-08	TCGA-66-2766-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	452b75d0-1818-46aa-8804-9cfc0bd66449	81a4d615-e95e-4c17-87f7-c06d8dd4975a	g.chr11:59631459G>T	ENST00000257264.3	-	2	284	c.180C>A	c.(178-180)tcC>tcA	p.S60S	TCN1_ENST00000532419.1_5'UTR	NM_001062.3	NP_001053.2	P20061	TCO1_HUMAN	transcobalamin I (vitamin B12 binding protein, R binder family)	60	Globular N-terminal alpha domain.				cobalamin metabolic process (GO:0009235)|cobalamin transport (GO:0015889)|cobalt ion transport (GO:0006824)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	cobalamin binding (GO:0031419)	p.S60S(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(15)|ovary(2)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	29		all_epithelial(135;0.198)			Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	CAAGTTTGAGGGACAACACAA	0.398																																						uc001noj.2																			1	Substitution - coding silent(1)		lung(1)	ovary(2)	2						c.(178-180)TCC>TCA		transcobalamin I precursor	Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)						250.0	240.0	243.0					11																	59631459		2201	4294	6495	SO:0001819	synonymous_variant	6947				cobalamin metabolic process|cobalamin transport|cobalt ion transport	extracellular region	cobalamin binding	g.chr11:59631459G>T	J05068	CCDS7978.1	11q11-q12	2008-07-21			ENSG00000134827	ENSG00000134827			11652	protein-coding gene	gene with protein product	"""haptocorin"", ""haptocorrin"""	189905					Standard	NM_001062		Approved	TCI, TC1	uc001noj.2	P20061	OTTHUMG00000167400	ENST00000257264.3:c.180C>A	11.37:g.59631459G>T							p.S60S	NM_001062	NP_001053	P20061	TCO1_HUMAN			2	278	-		all_epithelial(135;0.198)	60					A8KAC5|Q8WV77	Silent	SNP	ENST00000257264.3	37	c.180C>A	CCDS7978.1																																																																																				PASS	0.398	TCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394503.1	NM_001062		206	231	206	231	---	---	---	---
MYRF	745	broad.mit.edu	37	11	61548730	61548730	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2766-01A-01D-1522-08	TCGA-66-2766-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	452b75d0-1818-46aa-8804-9cfc0bd66449	81a4d615-e95e-4c17-87f7-c06d8dd4975a	g.chr11:61548730C>T	ENST00000278836.5	+	21	2789	c.2693C>T	c.(2692-2694)cCt>cTt	p.P898L	MYRF_ENST00000389602.4_Missense_Mutation_p.P289L|TMEM258_ENST00000535042.1_Intron|MYRF_ENST00000265460.5_Missense_Mutation_p.P863L	NM_001127392.1	NP_001120864.1	Q9Y2G1	MRF_HUMAN	myelin regulatory factor	898					central nervous system myelin maintenance (GO:0032286)|central nervous system myelination (GO:0022010)|oligodendrocyte development (GO:0014003)|oligodendrocyte differentiation (GO:0048709)|positive regulation of myelination (GO:0031643)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	DNA binding (GO:0003677)|peptidase activity (GO:0008233)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.P863L(1)									accactggtcctagtcttggc	0.612																																						uc001nsc.1																			1	Substitution - Missense(1)		lung(1)	breast(1)	1						c.(2692-2694)CCT>CTT		myelin gene regulatory factor isoform 2							145.0	119.0	128.0					11																	61548730		2202	4299	6501	SO:0001583	missense	745				central nervous system myelination|positive regulation of myelination|positive regulation of transcription, DNA-dependent	integral to membrane|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr11:61548730C>T		CCDS31579.1, CCDS44622.1	11q12-q13.1	2012-12-19	2012-12-19	2012-12-19	ENSG00000124920	ENSG00000124920			1181	protein-coding gene	gene with protein product	"""myelin gene regulatory factor"""	608329	"""chromosome 11 open reading frame 9"""	C11orf9		10828591, 12384578	Standard	NM_001127392		Approved	Ndt80, pqn-47, MRF	uc001nsc.1	Q9Y2G1	OTTHUMG00000168161	ENST00000278836.5:c.2693C>T	11.37:g.61548730C>T	ENSP00000278836:p.Pro898Leu					C11orf9_uc001nse.1_Missense_Mutation_p.P863L|C11orf9_uc010rll.1_Missense_Mutation_p.P289L	p.P898L	NM_001127392	NP_001120864	Q9Y2G1	MRF_HUMAN			21	2789	+			898					O43582|Q9P1Q6	Missense_Mutation	SNP	ENST00000278836.5	37	c.2693C>T	CCDS44622.1	.	.	.	.	.	.	.	.	.	.	C	15.60	2.881333	0.51801	.	.	ENSG00000124920	ENST00000278836;ENST00000265460;ENST00000389602	T;T;T	0.28666	1.6;1.6;1.6	3.69	2.74	0.32292	.	0.824251	0.10936	N	0.617842	T	0.26376	0.0644	L	0.44542	1.39	0.09310	N	0.999997	B;B;B	0.27068	0.07;0.167;0.085	B;B;B	0.24269	0.024;0.052;0.039	T	0.23154	-1.0196	10	0.87932	D	0	-0.9797	8.9535	0.35803	0.0:0.7721:0.2279:0.0	.	289;863;898	B4DHB2;Q9Y2G1-2;Q9Y2G1	.;.;MRF_HUMAN	L	898;863;289	ENSP00000278836:P898L;ENSP00000265460:P863L;ENSP00000374253:P289L	ENSP00000265460:P863L	P	+	2	0	C11orf9	61305306	0.001000	0.12720	0.010000	0.14722	0.871000	0.50021	0.894000	0.28350	1.088000	0.41272	0.491000	0.48974	CCT		PASS	0.612	MYRF-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000398519.2	NM_013279		75	62	75	62	---	---	---	---
AHNAK	79026	broad.mit.edu	37	11	62294756	62294756	+	Missense_Mutation	SNP	T	T	A			TCGA-66-2766-01A-01D-1522-08	TCGA-66-2766-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	452b75d0-1818-46aa-8804-9cfc0bd66449	81a4d615-e95e-4c17-87f7-c06d8dd4975a	g.chr11:62294756T>A	ENST00000378024.4	-	5	7407	c.7133A>T	c.(7132-7134)gAt>gTt	p.D2378V	AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	2378					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.D2378V(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)				AAAGTGCATATCTGGCATCTT	0.453																																						uc001ntl.2																			1	Substitution - Missense(1)		lung(1)	ovary(10)|pancreas(4)|skin(4)|upper_aerodigestive_tract(1)	19						c.(7132-7134)GAT>GTT		AHNAK nucleoprotein isoform 1							115.0	122.0	119.0					11																	62294756		2202	4299	6501	SO:0001583	missense	79026				nervous system development	nucleus	protein binding	g.chr11:62294756T>A	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.7133A>T	11.37:g.62294756T>A	ENSP00000367263:p.Asp2378Val					AHNAK_uc001ntk.1_Intron	p.D2378V	NM_001620	NP_001611	Q09666	AHNK_HUMAN			5	7433	-		Melanoma(852;0.155)	2378					A1A586	Missense_Mutation	SNP	ENST00000378024.4	37	c.7133A>T	CCDS31584.1	.	.	.	.	.	.	.	.	.	.	t	14.38	2.519304	0.44866	.	.	ENSG00000124942	ENST00000244934;ENST00000378024	T	0.00686	5.85	3.21	3.21	0.36854	.	.	.	.	.	T	0.03053	0.0090	M	0.87827	2.91	0.46849	D	0.999225	D	0.61080	0.989	P	0.55923	0.787	T	0.33727	-0.9857	9	0.62326	D	0.03	.	8.2646	0.31806	0.0:0.0:0.2013:0.7987	.	2378	Q09666	AHNK_HUMAN	V	467;2378	ENSP00000367263:D2378V	ENSP00000244934:D467V	D	-	2	0	AHNAK	62051332	0.203000	0.23435	0.979000	0.43373	0.883000	0.51084	4.795000	0.62489	1.482000	0.48325	0.392000	0.25879	GAT		PASS	0.453	AHNAK-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395572.1	NM_024060		245	210	245	210	---	---	---	---
INTS5	80789	broad.mit.edu	37	11	62415255	62415255	+	Nonsense_Mutation	SNP	G	G	T			TCGA-66-2766-01A-01D-1522-08	TCGA-66-2766-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	452b75d0-1818-46aa-8804-9cfc0bd66449	81a4d615-e95e-4c17-87f7-c06d8dd4975a	g.chr11:62415255G>T	ENST00000330574.2	-	2	2349	c.2297C>A	c.(2296-2298)tCa>tAa	p.S766*	GANAB_ENST00000356638.3_5'Flank|GANAB_ENST00000534779.1_5'Flank|GANAB_ENST00000540933.1_5'Flank|GANAB_ENST00000346178.4_5'Flank	NM_030628.1	NP_085131.1	Q6P9B9	INT5_HUMAN	integrator complex subunit 5	766					snRNA processing (GO:0016180)	integral component of membrane (GO:0016021)|integrator complex (GO:0032039)|membrane (GO:0016020)		p.S766*(1)		breast(1)|endometrium(4)|large_intestine(6)|lung(20)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	36						CTGATTTCGTGACTGGACAAA	0.572																																						uc001nud.2																			1	Substitution - Nonsense(1)		lung(1)	ovary(2)	2						c.(2296-2298)TCA>TAA		integrator complex subunit 5							54.0	61.0	58.0					11																	62415255		2202	4299	6501	SO:0001587	stop_gained	80789				snRNA processing	integral to membrane|integrator complex	protein binding	g.chr11:62415255G>T	AK123587	CCDS8027.1	11q12.3	2006-04-26	2006-03-15	2006-03-15	ENSG00000185085	ENSG00000185085			29352	protein-coding gene	gene with protein product		611349	"""KIAA1698"""	KIAA1698		16239144	Standard	NM_030628		Approved	INT5	uc001nud.3	Q6P9B9	OTTHUMG00000167605	ENST00000330574.2:c.2297C>A	11.37:g.62415255G>T	ENSP00000327889:p.Ser766*					GANAB_uc001nua.2_5'Flank|GANAB_uc001nub.2_5'Flank|GANAB_uc001nuc.2_5'Flank|GANAB_uc010rma.1_5'Flank|GANAB_uc010rmb.1_5'Flank	p.S766*	NM_030628	NP_085131	Q6P9B9	INT5_HUMAN			2	2350	-			766					Q8N6W5|Q9C0G5	Nonsense_Mutation	SNP	ENST00000330574.2	37	c.2297C>A	CCDS8027.1	.	.	.	.	.	.	.	.	.	.	G	29.2	4.982704	0.93044	.	.	ENSG00000185085	ENST00000330574	.	.	.	5.21	4.3	0.51218	.	0.901828	0.09610	N	0.778953	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	6.6933	0.23185	0.0888:0.0:0.7361:0.1751	.	.	.	.	X	766	.	ENSP00000327889:S766X	S	-	2	0	INTS5	62171831	0.000000	0.05858	0.018000	0.16275	0.999000	0.98932	0.048000	0.14078	1.428000	0.47296	0.650000	0.86243	TCA		PASS	0.572	INTS5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395327.1	NM_030628		35	96	35	96	---	---	---	---
ZBTB3	79842	broad.mit.edu	37	11	62521022	62521022	+	Missense_Mutation	SNP	G	G	C			TCGA-66-2766-01A-01D-1522-08	TCGA-66-2766-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	452b75d0-1818-46aa-8804-9cfc0bd66449	81a4d615-e95e-4c17-87f7-c06d8dd4975a	g.chr11:62521022G>C	ENST00000394807.3	-	2	390	c.265C>G	c.(265-267)Cgg>Ggg	p.R89G		NM_024784.3	NP_079060.1	Q9H5J0	ZBTB3_HUMAN	zinc finger and BTB domain containing 3	89	BTB. {ECO:0000255|PROSITE- ProRule:PRU00037}.				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.R89G(1)		breast(4)|endometrium(3)|kidney(1)|large_intestine(2)|liver(1)|lung(9)|ovary(2)|prostate(2)	24						AGCACAGCCCGATGGGCCAAG	0.557																																						uc001nuz.2																			1	Substitution - Missense(1)		lung(1)	breast(2)|ovary(1)	3						c.(265-267)CGG>GGG		zinc finger and BTB domain containing 3							44.0	44.0	44.0					11																	62521022		2202	4299	6501	SO:0001583	missense	79842				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr11:62521022G>C	AK027045	CCDS8034.1	11q12.3	2013-01-09				ENSG00000185670		"""-"", ""BTB/POZ domain containing"", ""Zinc fingers, C2H2-type"""	22918	protein-coding gene	gene with protein product							Standard	NM_024784		Approved	FLJ23392	uc001nuz.3	Q9H5J0		ENST00000394807.3:c.265C>G	11.37:g.62521022G>C	ENSP00000378286:p.Arg89Gly						p.R89G	NM_024784	NP_079060	Q9H5J0	ZBTB3_HUMAN			2	387	-			89			BTB.			Missense_Mutation	SNP	ENST00000394807.3	37	c.265C>G	CCDS8034.1	.	.	.	.	.	.	.	.	.	.	G	17.60	3.429782	0.62844	.	.	ENSG00000185670	ENST00000394807;ENST00000527994	T;T	0.75367	-0.93;-0.93	5.85	2.92	0.33932	BTB/POZ-like (2);BTB/POZ (1);BTB/POZ fold (2);	0.058923	0.64402	D	0.000004	D	0.91185	0.7223	H	0.98769	4.325	0.41237	D	0.986613	D	0.89917	1.0	D	0.79108	0.992	D	0.93096	0.6504	10	0.87932	D	0	.	13.6519	0.62316	0.0:0.0:0.5984:0.4016	.	89	Q9H5J0	ZBTB3_HUMAN	G	89;39	ENSP00000378286:R89G;ENSP00000432731:R39G	ENSP00000378286:R89G	R	-	1	2	ZBTB3	62277598	1.000000	0.71417	0.989000	0.46669	0.998000	0.95712	1.180000	0.32005	0.351000	0.24027	0.561000	0.74099	CGG		PASS	0.557	ZBTB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395342.1	NM_024784		43	31	43	31	---	---	---	---
KCNK4	50801	broad.mit.edu	37	11	64065659	64065659	+	Missense_Mutation	SNP	G	G	A			TCGA-66-2766-01A-01D-1522-08	TCGA-66-2766-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	452b75d0-1818-46aa-8804-9cfc0bd66449	81a4d615-e95e-4c17-87f7-c06d8dd4975a	g.chr11:64065659G>A	ENST00000539216.1	+	5	1099	c.739G>A	c.(739-741)Gcc>Acc	p.A247T	TEX40_ENST00000328404.6_5'Flank|KCNK4_ENST00000422670.2_Missense_Mutation_p.A247T|KCNK4_ENST00000538767.1_Missense_Mutation_p.R131H|TEX40_ENST00000539943.1_5'Flank|KCNK4_ENST00000394525.2_Missense_Mutation_p.A247T|KCNK4_ENST00000539651.1_3'UTR|Y_RNA_ENST00000384297.1_RNA|RP11-783K16.10_ENST00000539086.1_RNA			Q9NYG8	KCNK4_HUMAN	potassium channel, subfamily K, member 4	247					potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	potassium channel activity (GO:0005267)|voltage-gated ion channel activity (GO:0005244)	p.A247T(1)		breast(2)|large_intestine(2)|lung(3)|prostate(2)|urinary_tract(1)	10						GGCTTACTTCGCCTCAGTGCT	0.662																																						uc001nzj.1																			1	Substitution - Missense(1)		lung(1)		0						c.(739-741)GCC>ACC		TRAAK							48.0	43.0	45.0					11																	64065659		2201	4297	6498	SO:0001583	missense	50801					integral to membrane	potassium channel activity|voltage-gated ion channel activity	g.chr11:64065659G>A	AF247042	CCDS8067.1	11q13	2012-03-07			ENSG00000182450	ENSG00000182450		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Two-P"""	6279	protein-coding gene	gene with protein product		605720				10767409, 16382106	Standard	NM_033310		Approved	K2p4.1, TRAAK	uc001nzk.1	Q9NYG8	OTTHUMG00000168006	ENST00000539216.1:c.739G>A	11.37:g.64065659G>A	ENSP00000444948:p.Ala247Thr					KCNK4_uc001nzk.1_Missense_Mutation_p.R131H|KCNK4_uc010rnk.1_Missense_Mutation_p.A75T|KCNK4_uc001nzl.1_Missense_Mutation_p.R131H|KCNK4_uc001nzm.3_RNA|KCNK4_uc001nzn.1_Missense_Mutation_p.A247T|KCNK4_uc001nzo.2_Missense_Mutation_p.A247T|KCNK4_uc001nzp.1_Missense_Mutation_p.A133T|C11orf20_uc009ypm.2_5'Flank	p.A247T	NM_033310	NP_201567	Q9NYG8	KCNK4_HUMAN			6	1062	+			247			Helical; (Potential).		B5TJL1|Q96T94	Missense_Mutation	SNP	ENST00000539216.1	37	c.739G>A	CCDS8067.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	19.62|19.62	3.862004|3.862004	0.71949|0.71949	.|.	.|.	ENSG00000182450|ENSG00000182450	ENST00000422670;ENST00000539852;ENST00000394525;ENST00000544845;ENST00000539216|ENST00000538767	T;T;T|.	0.32515|.	1.45;1.45;1.45|.	5.57|5.57	5.57|5.57	0.84162|0.84162	Ion transport 2 (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.75236|0.75236	0.3822|0.3822	M|M	0.67569|0.67569	2.06|2.06	0.58432|0.58432	D|D	0.999996|0.999996	D;D|D	0.89917|0.76494	1.0;1.0|0.999	D;D|P	0.87578|0.59703	0.996;0.998|0.862	T|T	0.77803|0.77803	-0.2451|-0.2451	10|8	0.87932|0.87932	D|D	0|0	.|.	17.0344|17.0344	0.86470|0.86470	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	273;247|131	Q9NYG8-2;Q9NYG8|F5GYE0	.;KCNK4_HUMAN|.	T|H	247;272;247;309;247|131	ENSP00000402797:A247T;ENSP00000378033:A247T;ENSP00000444948:A247T|.	ENSP00000378033:A247T|ENSP00000446454:R131H	A|R	+|+	1|2	0|0	KCNK4|KCNK4	63822235|63822235	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.992000|0.992000	0.81027|0.81027	9.405000|9.405000	0.97313|0.97313	2.630000|2.630000	0.89119|0.89119	0.561000|0.561000	0.74099|0.74099	GCC|CGC		PASS	0.662	KCNK4-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396430.1	NM_033311		29	19	29	19	---	---	---	---
SLC22A11	55867	broad.mit.edu	37	11	64326618	64326618	+	Silent	SNP	G	G	A			TCGA-66-2766-01A-01D-1522-08	TCGA-66-2766-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	452b75d0-1818-46aa-8804-9cfc0bd66449	81a4d615-e95e-4c17-87f7-c06d8dd4975a	g.chr11:64326618G>A	ENST00000301891.4	+	2	779	c.405G>A	c.(403-405)gtG>gtA	p.V135V	SLC22A11_ENST00000490834.1_Intron|SLC22A11_ENST00000377585.3_Silent_p.V135V|SLC22A11_ENST00000377581.3_Silent_p.V135V	NM_018484.2	NP_060954.1	Q9NSA0	S22AB_HUMAN	solute carrier family 22 (organic anion/urate transporter), member 11	135					organic anion transport (GO:0015711)|transmembrane transport (GO:0055085)|urate metabolic process (GO:0046415)	apical plasma membrane (GO:0016324)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	inorganic anion exchanger activity (GO:0005452)|organic anion transmembrane transporter activity (GO:0008514)|sodium-independent organic anion transmembrane transporter activity (GO:0015347)	p.V135V(1)		breast(1)|central_nervous_system(3)|endometrium(3)|kidney(2)|large_intestine(5)|lung(6)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	23					Aminohippurate(DB00345)|Aspartame(DB00168)|Benzylpenicillin(DB01053)|Bumetanide(DB00887)|Cefalotin(DB00456)|Cefamandole(DB01326)|Cefazolin(DB01327)|Cefoperazone(DB01329)|Cefotaxime(DB00493)|Ceftriaxone(DB01212)|Cimetidine(DB00501)|Conjugated Estrogens(DB00286)|Diclofenac(DB00586)|Dinoprost Tromethamine(DB01160)|Dinoprostone(DB00917)|Doxycycline(DB00254)|Estradiol(DB00783)|Furosemide(DB00695)|Ibuprofen(DB01050)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Methotrexate(DB00563)|Minocycline(DB01017)|Novobiocin(DB01051)|Oxytetracycline(DB00595)|Phenylbutazone(DB00812)|Piroxicam(DB00554)|Pravastatin(DB00175)|Probenecid(DB01032)|Salicylic acid(DB00936)|Tetracycline(DB00759)|Zidovudine(DB00495)	GGGACCTGGTGTGCAGCTCCC	0.632																																						uc001oai.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.(403-405)GTG>GTA		solute carrier family 22 member 11	Probenecid(DB01032)						121.0	108.0	113.0					11																	64326618		2201	4297	6498	SO:0001819	synonymous_variant	55867				urate metabolic process	apical plasma membrane|external side of plasma membrane|integral to plasma membrane	inorganic anion exchanger activity|protein binding|sodium-independent organic anion transmembrane transporter activity	g.chr11:64326618G>A	AB026116	CCDS8074.1	11q13.3	2013-05-22	2008-01-11		ENSG00000168065	ENSG00000168065		"""Solute carriers"""	18120	protein-coding gene	gene with protein product		607097				10660625, 15576633, 17229912	Standard	NM_018484		Approved	OAT4	uc001oai.3	Q9NSA0	OTTHUMG00000045142	ENST00000301891.4:c.405G>A	11.37:g.64326618G>A						SLC22A11_uc001oah.1_Intron|SLC22A11_uc001oaj.2_Silent_p.V135V|SLC22A11_uc009ypq.2_Silent_p.V135V|SLC22A11_uc001oak.1_5'Flank	p.V135V	NM_018484	NP_060954	Q9NSA0	S22AB_HUMAN			2	779	+			135			Extracellular (Potential).		A8K426|Q53GR2|Q6ZP72|Q8NBU4	Silent	SNP	ENST00000301891.4	37	c.405G>A	CCDS8074.1																																																																																				PASS	0.632	SLC22A11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000104886.4	NM_018484		48	133	48	133	---	---	---	---
CFL1	1072	broad.mit.edu	37	11	65622856	65622856	+	Missense_Mutation	SNP	T	T	A			TCGA-66-2766-01A-01D-1522-08	TCGA-66-2766-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	452b75d0-1818-46aa-8804-9cfc0bd66449	81a4d615-e95e-4c17-87f7-c06d8dd4975a	g.chr11:65622856T>A	ENST00000525451.2	-	5	1167	c.452A>T	c.(451-453)gAg>gTg	p.E151V	CFL1_ENST00000524553.1_Missense_Mutation_p.E134V|CFL1_ENST00000531413.1_Missense_Mutation_p.E134V|CFL1_ENST00000534769.1_Missense_Mutation_p.E189V|CFL1_ENST00000527344.1_Missense_Mutation_p.E134V|CFL1_ENST00000531407.1_Missense_Mutation_p.E134V|CFL1_ENST00000308162.5_Missense_Mutation_p.E151V			P23528	COF1_HUMAN	cofilin 1 (non-muscle)	151	ADF-H. {ECO:0000255|PROSITE- ProRule:PRU00599}.				actin cytoskeleton organization (GO:0030036)|actin filament depolymerization (GO:0030042)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cytoskeleton organization (GO:0007010)|establishment of cell polarity (GO:0030010)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|mitotic cytokinesis (GO:0000281)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell size (GO:0045792)|neural crest cell migration (GO:0001755)|neural fold formation (GO:0001842)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of actin filament depolymerization (GO:0030836)|protein import into nucleus (GO:0006606)|protein phosphorylation (GO:0006468)|regulation of cell morphogenesis (GO:0022604)|response to amino acid (GO:0043200)|response to virus (GO:0009615)|Rho protein signal transduction (GO:0007266)	cell-cell junction (GO:0005911)|cortical actin cytoskeleton (GO:0030864)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|vesicle (GO:0031982)		p.E151V(1)		breast(1)|kidney(1)|large_intestine(2)|lung(2)	6				READ - Rectum adenocarcinoma(159;0.169)		CCCCAGCTTCTCTGCCAGGGT	0.592																																					Esophageal Squamous(90;820 1366 3932 32351 42291)	uc001ofs.2																			1	Substitution - Missense(1)		lung(1)		0						c.(451-453)GAG>GTG		cofilin 1 (non-muscle)							44.0	44.0	44.0					11																	65622856		2201	4297	6498	SO:0001583	missense	1072				actin cytoskeleton organization|anti-apoptosis|axon guidance|platelet activation|platelet degranulation|response to virus|Rho protein signal transduction	cytoplasm|cytoskeleton|nuclear matrix	actin binding	g.chr11:65622856T>A	X95404	CCDS8114.1	11q13.1	2010-12-03			ENSG00000172757	ENSG00000172757			1874	protein-coding gene	gene with protein product		601442		CFL		8800436	Standard	NM_005507		Approved		uc001ofs.3	P23528		ENST00000525451.2:c.452A>T	11.37:g.65622856T>A	ENSP00000432660:p.Glu151Val					CFL1_uc001oft.2_Missense_Mutation_p.E151V|CFL1_uc001ofu.2_3'UTR	p.E151V	NM_005507	NP_005498	P23528	COF1_HUMAN		READ - Rectum adenocarcinoma(159;0.169)	4	686	-			151			ADF-H.		B3KUQ1|Q53Y87|Q9UCA2	Missense_Mutation	SNP	ENST00000525451.2	37	c.452A>T	CCDS8114.1	.	.	.	.	.	.	.	.	.	.	T	24.7	4.563434	0.86335	.	.	ENSG00000172757	ENST00000525451;ENST00000308162;ENST00000527344;ENST00000531407;ENST00000524553;ENST00000534769;ENST00000531413;ENST00000532134	D;D;D;D;D;D;D;D	0.84298	-1.83;-1.83;-1.83;-1.83;-1.83;-1.83;-1.83;-1.83	4.15	4.15	0.48705	Actin-binding, cofilin/tropomyosin type (2);	0.000000	0.85682	D	0.000000	D	0.89150	0.6633	M	0.81497	2.545	0.80722	D	1	P	0.48230	0.907	P	0.52823	0.71	D	0.90456	0.4442	10	0.87932	D	0	.	11.463	0.50221	0.0:0.0:0.0:1.0	.	151	P23528	COF1_HUMAN	V	151;151;134;134;134;189;134;151	ENSP00000432660:E151V;ENSP00000309629:E151V;ENSP00000432155:E134V;ENSP00000433910:E134V;ENSP00000432226:E134V;ENSP00000431696:E189V;ENSP00000433131:E134V;ENSP00000436431:E151V	ENSP00000309629:E151V	E	-	2	0	CFL1	65379432	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.841000	0.86834	1.873000	0.54277	0.533000	0.62120	GAG		PASS	0.592	CFL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390701.3	NM_005507		47	41	47	41	---	---	---	---
CD248	57124	broad.mit.edu	37	11	66082624	66082624	+	Silent	SNP	G	G	A			TCGA-66-2766-01A-01D-1522-08	TCGA-66-2766-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	452b75d0-1818-46aa-8804-9cfc0bd66449	81a4d615-e95e-4c17-87f7-c06d8dd4975a	g.chr11:66082624G>A	ENST00000311330.3	-	1	1891	c.1875C>T	c.(1873-1875)agC>agT	p.S625S	RP11-867G23.13_ENST00000534065.1_RNA	NM_020404.2	NP_065137.1	Q9HCU0	CD248_HUMAN	CD248 molecule, endosialin	625	Pro-rich.				anatomical structure regression (GO:0060033)|cell migration (GO:0016477)|lymph node development (GO:0048535)|positive regulation of cell proliferation (GO:0008284)|positive regulation of endothelial cell apoptotic process (GO:2000353)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|extracellular matrix binding (GO:0050840)	p.S625S(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						GGTTAGTGGGGCTCTGAGAGG	0.632																																						uc001ohm.1																			1	Substitution - coding silent(1)		lung(1)	large_intestine(3)	3						c.(1873-1875)AGC>AGT		tumor endothelial marker 1 precursor	Cefalotin(DB00456)						46.0	55.0	52.0					11																	66082624		2199	4295	6494	SO:0001819	synonymous_variant	57124					integral to membrane|proteinaceous extracellular matrix	calcium ion binding|sugar binding	g.chr11:66082624G>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.1875C>T	11.37:g.66082624G>A							p.S625S	NM_020404	NP_065137	Q9HCU0	CD248_HUMAN			1	1892	-			625			Pro-rich.|Extracellular (Potential).		Q2M2V5|Q3SX55|Q96KB6	Silent	SNP	ENST00000311330.3	37	c.1875C>T	CCDS8134.1																																																																																				PASS	0.632	CD248-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392922.2	NM_020404		72	49	72	49	---	---	---	---
CHKA	1119	broad.mit.edu	37	11	67842266	67842266	+	Missense_Mutation	SNP	A	A	G			TCGA-66-2766-01A-01D-1522-08	TCGA-66-2766-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	452b75d0-1818-46aa-8804-9cfc0bd66449	81a4d615-e95e-4c17-87f7-c06d8dd4975a	g.chr11:67842266A>G	ENST00000265689.4	-	4	574	c.548T>C	c.(547-549)aTg>aCg	p.M183T	CHKA_ENST00000356135.5_Missense_Mutation_p.M165T	NM_001277.2	NP_001268.2	P35790	CHKA_HUMAN	choline kinase alpha	183					CDP-choline pathway (GO:0006657)|choline metabolic process (GO:0019695)|glycerophospholipid biosynthetic process (GO:0046474)|lipid metabolic process (GO:0006629)|lipid transport (GO:0006869)|phosphatidylcholine biosynthetic process (GO:0006656)|phosphatidylethanolamine biosynthetic process (GO:0006646)|phospholipid metabolic process (GO:0006644)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	ATP binding (GO:0005524)|choline binding (GO:0033265)|choline kinase activity (GO:0004103)|cholinesterase activity (GO:0004104)|drug binding (GO:0008144)|ethanolamine kinase activity (GO:0004305)|signal transducer activity (GO:0004871)	p.M183T(1)		central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(5)|ovary(1)|skin(1)	13					Choline(DB00122)	AATGGCAAACATAACGCTCTC	0.493																																						uc001onj.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.(547-549)ATG>ACG		choline kinase alpha isoform a	Choline(DB00122)						119.0	108.0	111.0					11																	67842266		2200	4294	6494	SO:0001583	missense	1119				lipid transport|phosphatidylethanolamine biosynthetic process	cytoplasm	ATP binding|choline kinase activity|drug binding|ethanolamine kinase activity|signal transducer activity	g.chr11:67842266A>G	D10704	CCDS8178.1, CCDS8179.1	11q13.1	2008-02-05	2004-04-19	2004-04-21	ENSG00000110721	ENSG00000110721	2.7.1.32		1937	protein-coding gene	gene with protein product		118491	"""choline kinase"""	CHK		1618328, 15003397	Standard	NM_001277		Approved	CKI	uc001onj.3	P35790	OTTHUMG00000167424	ENST00000265689.4:c.548T>C	11.37:g.67842266A>G	ENSP00000265689:p.Met183Thr					CHKA_uc001onk.2_Missense_Mutation_p.M165T	p.M183T	NM_001277	NP_001268	P35790	CHKA_HUMAN			4	762	-			183					Q8NE29	Missense_Mutation	SNP	ENST00000265689.4	37	c.548T>C	CCDS8178.1	.	.	.	.	.	.	.	.	.	.	A	16.25	3.069531	0.55539	.	.	ENSG00000110721	ENST00000265689;ENST00000356135;ENST00000531341	T;T;T	0.56941	0.43;0.43;0.43	4.97	4.97	0.65823	Protein kinase-like domain (1);Choline/ethanolamine kinase (1);	0.000000	0.85682	D	0.000000	T	0.57519	0.2059	N	0.26042	0.785	0.80722	D	1	D;D	0.69078	0.997;0.987	D;D	0.75484	0.986;0.932	T	0.51880	-0.8649	10	0.17369	T	0.5	-26.1565	14.8138	0.70017	1.0:0.0:0.0:0.0	.	165;183	P35790-2;P35790	.;CHKA_HUMAN	T	183;165;61	ENSP00000265689:M183T;ENSP00000348454:M165T;ENSP00000435032:M61T	ENSP00000265689:M183T	M	-	2	0	CHKA	67598842	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.033000	0.93741	2.084000	0.62774	0.460000	0.39030	ATG		PASS	0.493	CHKA-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000394570.1	NM_001277		33	89	33	89	---	---	---	---
SHANK2	22941	broad.mit.edu	37	11	70319024	70319024	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2766-01A-01D-1522-08	TCGA-66-2766-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	452b75d0-1818-46aa-8804-9cfc0bd66449	81a4d615-e95e-4c17-87f7-c06d8dd4975a	g.chr11:70319024C>G	ENST00000423696.2	-	16	4399	c.4363G>C	c.(4363-4365)Ggg>Cgg	p.G1455R	SHANK2_ENST00000449833.2_Missense_Mutation_p.G1239R|SHANK2_ENST00000338508.4_Missense_Mutation_p.G1835R|SHANK2_ENST00000409161.1_Missense_Mutation_p.G1238R			Q9UPX8	SHAN2_HUMAN	SH3 and multiple ankyrin repeat domains 2	1455	SAM. {ECO:0000255|PROSITE- ProRule:PRU00184}.				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.G1835W(1)|p.G1239R(1)|p.G1835R(1)|p.G1239W(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)			ATTCTGTGCCCGACTCGAGTT	0.498																																						uc001oqc.2																			4	Substitution - Missense(4)		lung(4)	ovary(2)|pancreas(1)|central_nervous_system(1)|skin(1)	5						c.(5500-5502)GGG>CGG		SH3 and multiple ankyrin repeat domains 2							212.0	215.0	214.0					11																	70319024		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.chr11:70319024C>G	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.4363G>C	11.37:g.70319024C>G	ENSP00000394536:p.Gly1455Arg					SHANK2_uc010rqn.1_Missense_Mutation_p.G1246R|SHANK2_uc001opz.2_Missense_Mutation_p.G1239R|uc009ysn.1_5'UTR|SHANK2_uc001opy.2_Missense_Mutation_p.G170R	p.G1834R	NM_012309	NP_036441	Q9UPX8	SHAN2_HUMAN	LUSC - Lung squamous cell carcinoma(11;4.72e-09)|STAD - Stomach adenocarcinoma(18;0.071)		22	5578	-			1455			SAM.		C0SPG8|C0SPG9|Q3Y8G9|Q52LK2|Q9UKP1	Missense_Mutation	SNP	ENST00000423696.2	37	c.5500G>C		.	.	.	.	.	.	.	.	.	.	C	31	5.089946	0.94149	.	.	ENSG00000162105	ENST00000449833;ENST00000409161;ENST00000424924;ENST00000338508;ENST00000423696;ENST00000433693;ENST00000294018	T;T;T;T;T;T	0.67345	-0.26;-0.26;-0.26;-0.26;-0.26;-0.26	6.03	6.03	0.97812	Sterile alpha motif domain (2);Sterile alpha motif/pointed domain (2);Sterile alpha motif, type 1 (1);	0.000000	0.85682	D	0.000000	D	0.87601	0.6218	M	0.93550	3.43	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	0.89481	0.3750	10	0.87932	D	0	.	20.5568	0.99304	0.0:1.0:0.0:0.0	.	1455;1834;1239	Q9UPX8;Q9UPX8-3;Q9UPX8-4	SHAN2_HUMAN;.;.	R	1239;1238;1113;1835;1455;1473;1458	ENSP00000399423:G1239R;ENSP00000386491:G1238R;ENSP00000402944:G1113R;ENSP00000345193:G1835R;ENSP00000394536:G1455R;ENSP00000294018:G1458R	ENSP00000294018:G1458R	G	-	1	0	SHANK2	69996672	1.000000	0.71417	0.973000	0.42090	0.917000	0.54804	7.592000	0.82676	2.861000	0.98227	0.655000	0.94253	GGG		PASS	0.498	SHANK2-203	KNOWN	basic	protein_coding	protein_coding		NM_012309		180	158	180	158	---	---	---	---
C11orf30	56946	broad.mit.edu	37	11	76253386	76253386	+	Missense_Mutation	SNP	G	G	C			TCGA-66-2766-01A-01D-1522-08	TCGA-66-2766-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	452b75d0-1818-46aa-8804-9cfc0bd66449	81a4d615-e95e-4c17-87f7-c06d8dd4975a	g.chr11:76253386G>C	ENST00000529032.1	+	17	2684	c.2684G>C	c.(2683-2685)gGa>gCa	p.G895A	C11orf30_ENST00000525919.1_Missense_Mutation_p.G896A|C11orf30_ENST00000343878.3_Missense_Mutation_p.G895A|C11orf30_ENST00000533248.1_Missense_Mutation_p.G804A|C11orf30_ENST00000524490.1_Missense_Mutation_p.G797A|C11orf30_ENST00000334736.3_Missense_Mutation_p.G895A|C11orf30_ENST00000524767.1_Missense_Mutation_p.G910A|C11orf30_ENST00000525038.1_Missense_Mutation_p.G896A			Q7Z589	EMSY_HUMAN	chromosome 11 open reading frame 30	895					chromatin modification (GO:0016568)|DNA repair (GO:0006281)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)		p.G895A(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(10)|liver(1)|lung(23)|ovary(5)|prostate(2)|skin(4)|stomach(1)|urinary_tract(2)	60						TCTTCCCCTGGAGCAATCACC	0.507																																						uc001oxl.2																			1	Substitution - Missense(1)		lung(1)	ovary(5)|skin(1)	6						c.(2683-2685)GGA>GCA		EMSY protein							348.0	343.0	345.0					11																	76253386		2200	4292	6492	SO:0001583	missense	56946				chromatin modification|DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus		g.chr11:76253386G>C	AF226047	CCDS8244.1, CCDS73349.1, CCDS73350.1, CCDS73351.1	11q13.5	2010-07-01			ENSG00000158636	ENSG00000158636			18071	protein-coding gene	gene with protein product		608574					Standard	XM_005274106		Approved	EMSY	uc001oxl.3	Q7Z589	OTTHUMG00000165282	ENST00000529032.1:c.2684G>C	11.37:g.76253386G>C	ENSP00000432327:p.Gly895Ala					C11orf30_uc001oxm.2_Missense_Mutation_p.G797A|C11orf30_uc010rsb.1_Missense_Mutation_p.G910A|C11orf30_uc010rsc.1_Missense_Mutation_p.G896A|C11orf30_uc001oxn.2_Missense_Mutation_p.G896A|C11orf30_uc010rsd.1_Missense_Mutation_p.G804A|C11orf30_uc001oxo.1_Missense_Mutation_p.G249A|C11orf30_uc010rse.1_Missense_Mutation_p.G142A|C11orf30_uc001oxp.2_5'UTR	p.G895A	NM_020193	NP_064578	Q7Z589	EMSY_HUMAN			18	2827	+			895					B7ZKT8|B7ZKU0|B7ZKU2|Q17RM7|Q4G109|Q8NBU6|Q8TE50|Q9H8I9|Q9NRH0	Missense_Mutation	SNP	ENST00000529032.1	37	c.2684G>C	CCDS8244.1	.	.	.	.	.	.	.	.	.	.	G	25.3	4.627696	0.87560	.	.	ENSG00000158636	ENST00000524490;ENST00000334736;ENST00000343878;ENST00000393457;ENST00000524767;ENST00000533248;ENST00000525919;ENST00000525038;ENST00000529032;ENST00000524451;ENST00000532719	.	.	.	5.53	5.53	0.82687	.	0.237943	0.39909	N	0.001230	T	0.63510	0.2517	N	0.24115	0.695	0.48975	D	0.999735	D;D;D;D;B;P;B	0.76494	0.999;0.999;0.999;0.999;0.227;0.948;0.227	D;D;D;D;B;P;B	0.79108	0.991;0.981;0.981;0.992;0.034;0.617;0.034	T	0.56559	-0.7959	9	0.14252	T	0.57	-6.562	19.4613	0.94918	0.0:0.0:1.0:0.0	.	804;896;910;249;896;797;895	B7ZKT8;B7ZKU2;B7ZKU0;B3KWW8;Q17RM7;E9PMC9;Q7Z589	.;.;.;.;.;.;EMSY_HUMAN	A	797;895;895;577;910;804;896;896;895;167;35	.	ENSP00000334130:G895A	G	+	2	0	C11orf30	75931034	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.222000	0.65277	2.600000	0.87896	0.563000	0.77884	GGA		PASS	0.507	C11orf30-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000383288.2	NM_020193		123	491	123	491	---	---	---	---
TENM4	26011	broad.mit.edu	37	11	78369701	78369701	+	Missense_Mutation	SNP	T	T	G			TCGA-66-2766-01A-01D-1522-08	TCGA-66-2766-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	452b75d0-1818-46aa-8804-9cfc0bd66449	81a4d615-e95e-4c17-87f7-c06d8dd4975a	g.chr11:78369701T>G	ENST00000278550.7	-	34	8174	c.7712A>C	c.(7711-7713)aAg>aCg	p.K2571T		NM_001098816.2	NP_001092286.2	Q6N022	TEN4_HUMAN	teneurin transmembrane protein 4	2571					cardiac cell fate specification (GO:0060912)|cardiac muscle cell proliferation (GO:0060038)|central nervous system myelin formation (GO:0032289)|gastrulation with mouth forming second (GO:0001702)|neuron development (GO:0048666)|positive regulation of gastrulation (GO:2000543)|positive regulation of myelination (GO:0031643)|positive regulation of oligodendrocyte differentiation (GO:0048714)|self proteolysis (GO:0097264)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)|nucleus (GO:0005634)	protein homodimerization activity (GO:0042803)	p.K2571T(2)									CAAGGCAAACTTGACCCCCTT	0.547																																						uc001ozl.3																			2	Substitution - Missense(2)		lung(2)	ovary(2)|pancreas(2)	4						c.(7711-7713)AAG>ACG		odz, odd Oz/ten-m homolog 4							46.0	48.0	47.0					11																	78369701		2045	4198	6243	SO:0001583	missense	26011				signal transduction	integral to membrane		g.chr11:78369701T>G	AB037723	CCDS44688.1	11q13	2012-10-02	2012-10-02	2012-10-02		ENSG00000149256			29945	protein-coding gene	gene with protein product		610084	"""odz, odd Oz/ten-m homolog 4 (Drosophila)"""	ODZ4		12000766, 10625539	Standard	NM_001098816		Approved	KIAA1302, Ten-M4	uc001ozl.4	Q6N022		ENST00000278550.7:c.7712A>C	11.37:g.78369701T>G	ENSP00000278550:p.Lys2571Thr					ODZ4_uc001ozk.3_Missense_Mutation_p.K796T|ODZ4_uc009yvb.1_Intron	p.K2571T	NM_001098816	NP_001092286	Q6N022	TEN4_HUMAN			34	8175	-			2571			Extracellular (Potential).		A6ND26|Q7Z3C7|Q96MS6|Q9P2P4|Q9Y4S2	Missense_Mutation	SNP	ENST00000278550.7	37	c.7712A>C	CCDS44688.1	.	.	.	.	.	.	.	.	.	.	T	16.80	3.223798	0.58668	.	.	ENSG00000149256	ENST00000278550	D	0.89050	-2.46	5.65	5.65	0.86999	.	0.000000	0.85682	D	0.000000	D	0.91872	0.7427	L	0.44542	1.39	0.58432	D	0.999991	D	0.76494	0.999	D	0.78314	0.991	D	0.91047	0.4875	9	.	.	.	.	16.0399	0.80667	0.0:0.0:0.0:1.0	.	2571	Q6N022	TEN4_HUMAN	T	2571	ENSP00000278550:K2571T	.	K	-	2	0	ODZ4	78047349	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.875000	0.56108	2.371000	0.80710	0.533000	0.62120	AAG		PASS	0.547	TENM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391406.2			17	34	17	34	---	---	---	---
GRM5	2915	broad.mit.edu	37	11	88780705	88780705	+	Missense_Mutation	SNP	G	G	C			TCGA-66-2766-01A-01D-1522-08	TCGA-66-2766-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	452b75d0-1818-46aa-8804-9cfc0bd66449	81a4d615-e95e-4c17-87f7-c06d8dd4975a	g.chr11:88780705G>C	ENST00000305447.4	-	1	485	c.336C>G	c.(334-336)ttC>ttG	p.F112L	GRM5_ENST00000305432.5_Missense_Mutation_p.F112L|GRM5_ENST00000418177.2_Missense_Mutation_p.F112L|GRM5_ENST00000393294.3_Missense_Mutation_p.F112L|GRM5_ENST00000393297.1_Missense_Mutation_p.F112L|GRM5_ENST00000455756.2_Missense_Mutation_p.F112L	NM_001143831.2	NP_001137303.1	P41594	GRM5_HUMAN	glutamate receptor, metabotropic 5	112					activation of MAPKKK activity (GO:0000185)|cognition (GO:0050890)|desensitization of G-protein coupled receptor protein signaling pathway (GO:0002029)|G-protein coupled glutamate receptor signaling pathway (GO:0007216)|learning (GO:0007612)|locomotory behavior (GO:0007626)|negative regulation of locomotion (GO:0040013)|phospholipase C-activating G-protein coupled glutamate receptor signaling pathway (GO:0007206)|positive regulation of long-term neuronal synaptic plasticity (GO:0048170)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|protein phosphorylation (GO:0006468)|regulation of synaptic transmission, glutamatergic (GO:0051966)|regulation of transcription, DNA-templated (GO:0006355)|synaptic transmission (GO:0007268)	astrocyte projection (GO:0097449)|cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|dendritic spine (GO:0043197)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)	p.F112L(2)		NS(1)|breast(5)|central_nervous_system(4)|endometrium(5)|kidney(3)|large_intestine(18)|lung(40)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90		Acute lymphoblastic leukemia(157;2.54e-05)|all_hematologic(158;0.00834)			Acamprosate(DB00659)|Rufinamide(DB06201)	AATCTCTTATGAACTCAATGC	0.527																																						uc001pcq.2																			2	Substitution - Missense(2)		lung(2)	central_nervous_system(4)|ovary(2)|lung(2)|breast(1)	9						c.(334-336)TTC>TTG		glutamate receptor, metabotropic 5 isoform a	Acamprosate(DB00659)						75.0	65.0	68.0					11																	88780705		2201	4299	6500	SO:0001583	missense	2915				activation of phospholipase C activity by metabotropic glutamate receptor signaling pathway|synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity	g.chr11:88780705G>C	D28538	CCDS8283.1, CCDS44694.1	11q14.3	2014-06-12			ENSG00000168959	ENSG00000168959		"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4597	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 86"""	604102				7908515	Standard	NM_001143831		Approved	MGLUR5, GPRC1E, mGlu5, PPP1R86	uc001pcq.3	P41594	OTTHUMG00000134306	ENST00000305447.4:c.336C>G	11.37:g.88780705G>C	ENSP00000306138:p.Phe112Leu					GRM5_uc009yvm.2_Missense_Mutation_p.F112L|GRM5_uc009yvn.1_Missense_Mutation_p.F112L	p.F112L	NM_001143831	NP_001137303	P41594	GRM5_HUMAN			1	536	-		Acute lymphoblastic leukemia(157;2.54e-05)|all_hematologic(158;0.00834)	112			Extracellular (Potential).		Q6J164	Missense_Mutation	SNP	ENST00000305447.4	37	c.336C>G	CCDS44694.1	.	.	.	.	.	.	.	.	.	.	G	17.62	3.435292	0.62955	.	.	ENSG00000168959	ENST00000418177;ENST00000455756;ENST00000305432;ENST00000305447;ENST00000393297;ENST00000393294	D;D;D;D;D;D	0.85556	-2.0;-2.0;-2.0;-2.0;-2.0;-2.0	5.4	-0.953	0.10362	Extracellular ligand-binding receptor (1);	0.000000	0.85682	D	0.000000	D	0.88994	0.6589	M	0.68317	2.08	0.52501	D	0.999953	P;D;D	0.89917	0.594;1.0;0.997	P;D;D	0.76575	0.47;0.987;0.988	D	0.86417	0.1752	9	.	.	.	.	11.6147	0.51083	0.4559:0.0:0.5441:0.0	.	112;112;112	A8MT20;P41594-2;P41594	.;.;GRM5_HUMAN	L	112	ENSP00000402912:F112L;ENSP00000405690:F112L;ENSP00000305905:F112L;ENSP00000306138:F112L;ENSP00000376975:F112L;ENSP00000376972:F112L	.	F	-	3	2	GRM5	88420353	1.000000	0.71417	0.997000	0.53966	0.994000	0.84299	0.971000	0.29396	0.004000	0.14682	0.563000	0.77884	TTC		PASS	0.527	GRM5-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000259226.1	NM_000842		30	61	30	61	---	---	---	---
FAT3	120114	broad.mit.edu	37	11	92600239	92600239	+	Silent	SNP	G	G	T			TCGA-66-2766-01A-01D-1522-08	TCGA-66-2766-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	452b75d0-1818-46aa-8804-9cfc0bd66449	81a4d615-e95e-4c17-87f7-c06d8dd4975a	g.chr11:92600239G>T	ENST00000298047.6	+	21	12008	c.11991G>T	c.(11989-11991)ccG>ccT	p.P3997P	FAT3_ENST00000525166.1_Silent_p.P3847P|FAT3_ENST00000533797.1_Silent_p.P332P|FAT3_ENST00000409404.2_Silent_p.P3997P			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	3997	Laminin G-like. {ECO:0000255|PROSITE- ProRule:PRU00122}.				homophilic cell adhesion (GO:0007156)|multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.P3997P(2)|p.P572P(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)				ATGAGCTGCCGCTGCAGAACA	0.642										TCGA Ovarian(4;0.039)																												uc001pdj.3																			3	Substitution - coding silent(3)		lung(3)	ovary(4)|pancreas(1)	5						c.(11989-11991)CCG>CCT		FAT tumor suppressor homolog 3							10.0	13.0	12.0					11																	92600239		2013	4167	6180	SO:0001819	synonymous_variant	120114				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding	g.chr11:92600239G>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.11991G>T	11.37:g.92600239G>T		TCGA Ovarian(4;0.039)				FAT3_uc001pdi.3_Silent_p.P437P	p.P3997P	NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN			21	12008	+		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)	3997			Laminin G-like.|Extracellular (Potential).		B5MDB0|Q96AU6	Silent	SNP	ENST00000298047.6	37	c.11991G>T																																																																																					PASS	0.642	FAT3-201	KNOWN	basic	protein_coding	protein_coding		NM_001008781		5	0	5	0	---	---	---	---
GPR83	10888	broad.mit.edu	37	11	94113341	94113341	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2766-01A-01D-1522-08	TCGA-66-2766-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	452b75d0-1818-46aa-8804-9cfc0bd66449	81a4d615-e95e-4c17-87f7-c06d8dd4975a	g.chr11:94113341C>A	ENST00000243673.2	-	4	1417	c.1246G>T	c.(1246-1248)Gtg>Ttg	p.V416L	GPR83_ENST00000539203.2_Missense_Mutation_p.V374L	NM_016540.3	NP_057624.3	Q9NYM4	GPR83_HUMAN	G protein-coupled receptor 83	416					response to glucocorticoid (GO:0051384)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|neuropeptide Y receptor activity (GO:0004983)	p.V416L(1)		NS(1)|breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)	19		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)				ATGGGTTCCACAGATGACAGG	0.557																																						uc001pet.2																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(2)|ovary(1)	3						c.(1246-1248)GTG>TTG		G protein-coupled receptor 83 precursor							56.0	59.0	58.0					11																	94113341		2201	4298	6499	SO:0001583	missense	10888					integral to membrane|plasma membrane	neuropeptide Y receptor activity	g.chr11:94113341C>A	AF236081	CCDS8297.1	11q21	2012-08-21	2003-07-30	2003-08-01	ENSG00000123901	ENSG00000123901		"""GPCR / Class A : Orphans"""	4523	protein-coding gene	gene with protein product		605569	"""G protein-coupled receptor 72"""	GPR72		10760605, 11060465	Standard	NM_016540		Approved		uc001pet.2	Q9NYM4	OTTHUMG00000167779	ENST00000243673.2:c.1246G>T	11.37:g.94113341C>A	ENSP00000243673:p.Val416Leu						p.V416L	NM_016540	NP_057624	Q9NYM4	GPR83_HUMAN			4	1418	-		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)	416			Cytoplasmic (Potential).		B0M0K5|Q6NWR4|Q9P1Y8	Missense_Mutation	SNP	ENST00000243673.2	37	c.1246G>T	CCDS8297.1	.	.	.	.	.	.	.	.	.	.	C	15.08	2.726557	0.48833	.	.	ENSG00000123901	ENST00000243673;ENST00000539203	T;T	0.63744	-0.06;0.06	5.95	3.09	0.35607	.	0.064310	0.64402	D	0.000010	T	0.50531	0.1621	L	0.43923	1.385	0.47183	D	0.999342	P	0.41450	0.75	B	0.39339	0.297	T	0.34030	-0.9845	10	0.21540	T	0.41	.	10.69	0.45864	0.0:0.7907:0.0:0.2093	.	416	Q9NYM4	GPR83_HUMAN	L	416;374	ENSP00000243673:V416L;ENSP00000441550:V374L	ENSP00000243673:V416L	V	-	1	0	GPR83	93752989	0.991000	0.36638	0.620000	0.29132	0.124000	0.20399	2.939000	0.48995	0.423000	0.26033	0.655000	0.94253	GTG		PASS	0.557	GPR83-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396232.1	NM_016540		45	20	45	20	---	---	---	---
KDM4D	55693	broad.mit.edu	37	11	94705278	94705278	+	5'Flank	SNP	G	G	T			TCGA-66-2766-01A-01D-1522-08	TCGA-66-2766-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	452b75d0-1818-46aa-8804-9cfc0bd66449	81a4d615-e95e-4c17-87f7-c06d8dd4975a	g.chr11:94705278G>T	ENST00000335080.5	+	0	0				CWC15_ENST00000279839.6_Missense_Mutation_p.S24R|KDM4D_ENST00000536741.1_5'Flank|CWC15_ENST00000545018.1_5'UTR	NM_018039.2	NP_060509.2	Q6B0I6	KDM4D_HUMAN	lysine (K)-specific demethylase 4D						chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	blood microparticle (GO:0072562)|nucleus (GO:0005634)	dioxygenase activity (GO:0051213)|metal ion binding (GO:0046872)			endometrium(4)|kidney(2)|large_intestine(2)|liver(2)|lung(16)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30						TTGAAAGTTGGCTCAAATCAC	0.388																																						uc001pfd.3																			0					0						c.(70-72)AGC>AGA		CWC15 homolog							160.0	162.0	161.0					11																	94705278		1873	4098	5971	SO:0001631	upstream_gene_variant	51503				nuclear mRNA splicing, via spliceosome	catalytic step 2 spliceosome	protein binding|RNA binding	g.chr11:94705278G>T	AK001113	CCDS8302.1	11q21	2012-03-28	2009-04-06	2009-04-06	ENSG00000186280	ENSG00000186280		"""Chromatin-modifying enzymes / K-demethylases"""	25498	protein-coding gene	gene with protein product		609766	"""jumonji domain containing 2D"""	JMJD2D		15138608	Standard	NM_018039		Approved	FLJ10251	uc001pfe.3	Q6B0I6	OTTHUMG00000167838		11.37:g.94705278G>T	Exception_encountered					CWC15_uc009ywl.1_Missense_Mutation_p.S24R|KDM4D_uc001pfe.2_5'Flank	p.S24R	NM_016403	NP_057487	Q9P013	CWC15_HUMAN			2	195	-		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)	24					B3KPC4|Q0VF39|Q9NT41|Q9NW76	Missense_Mutation	SNP	ENST00000335080.5	37	c.72C>A	CCDS8302.1																																																																																				PASS	0.388	KDM4D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396558.2	NM_018039		5	228	5	228	---	---	---	---
CNTN5	53942	broad.mit.edu	37	11	99941169	99941169	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2766-01A-01D-1522-08	TCGA-66-2766-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	452b75d0-1818-46aa-8804-9cfc0bd66449	81a4d615-e95e-4c17-87f7-c06d8dd4975a	g.chr11:99941169G>T	ENST00000524871.1	+	11	1466	c.1176G>T	c.(1174-1176)tgG>tgT	p.W392C	CNTN5_ENST00000279463.3_Missense_Mutation_p.W392C|CNTN5_ENST00000418526.2_Missense_Mutation_p.W318C|CNTN5_ENST00000527185.1_Missense_Mutation_p.W392C|CNTN5_ENST00000528682.1_Missense_Mutation_p.W392C	NM_014361.3	NP_055176.1	O94779	CNTN5_HUMAN	contactin 5	392	Ig-like C2-type 4.				cell adhesion (GO:0007155)|sensory perception of sound (GO:0007605)	anchored component of membrane (GO:0031225)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)		p.W392C(2)		NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(12)|lung(38)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	81		all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219)		BRCA - Breast invasive adenocarcinoma(274;0.00146)|KIRC - Kidney renal clear cell carcinoma(183;0.156)|Kidney(183;0.196)		ACCCACACTGGGTAGAAAAAC	0.413																																						uc001pga.2																			2	Substitution - Missense(2)		lung(2)	skin(3)|ovary(2)|pancreas(2)|breast(1)	8						c.(1174-1176)TGG>TGT		contactin 5 isoform long							68.0	65.0	66.0					11																	99941169		1868	4101	5969	SO:0001583	missense	53942				cell adhesion	anchored to membrane|plasma membrane	protein binding	g.chr11:99941169G>T	AB013802	CCDS53696.1, CCDS53697.1, CCDS58168.1	11q22.1	2013-02-11			ENSG00000149972	ENSG00000149972		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	2175	protein-coding gene	gene with protein product		607219					Standard	NM_014361		Approved	NB-2, hNB-2	uc021qpb.1	O94779	OTTHUMG00000167579	ENST00000524871.1:c.1176G>T	11.37:g.99941169G>T	ENSP00000435637:p.Trp392Cys					CNTN5_uc009ywv.1_Missense_Mutation_p.W392C|CNTN5_uc001pfz.2_Missense_Mutation_p.W392C|CNTN5_uc001pgb.2_Missense_Mutation_p.W318C	p.W392C	NM_014361	NP_055176	O94779	CNTN5_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.00146)|KIRC - Kidney renal clear cell carcinoma(183;0.156)|Kidney(183;0.196)	11	1515	+		all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219)	392			Ig-like C2-type 4.		A1L4P0|B7ZM07|E9PKE8|O94780|Q49AF3	Missense_Mutation	SNP	ENST00000524871.1	37	c.1176G>T	CCDS53696.1	.	.	.	.	.	.	.	.	.	.	G	22.8	4.331075	0.81690	.	.	ENSG00000149972	ENST00000527185;ENST00000528682;ENST00000524871;ENST00000418526;ENST00000279463	T;T;T;T;T	0.66638	-0.22;-0.22;-0.22;-0.22;-0.22	5.84	5.84	0.93424	Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	D	0.83487	0.5265	M	0.81341	2.54	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.78314	0.978;0.98;0.991	D	0.84776	0.0770	10	0.87932	D	0	.	19.1851	0.93641	0.0:0.0:1.0:0.0	.	392;318;392	E9PKE8;O94779-2;O94779	.;.;CNTN5_HUMAN	C	392;392;392;318;392	ENSP00000433575:W392C;ENSP00000436185:W392C;ENSP00000435637:W392C;ENSP00000393229:W318C;ENSP00000279463:W392C	ENSP00000279463:W392C	W	+	3	0	CNTN5	99446379	1.000000	0.71417	0.997000	0.53966	0.967000	0.64934	9.865000	0.99609	2.782000	0.95742	0.580000	0.79431	TGG		PASS	0.413	CNTN5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395148.2	NM_014361		24	14	24	14	---	---	---	---
CARD18	59082	broad.mit.edu	37	11	105009724	105009724	+	Nonsense_Mutation	SNP	A	A	T			TCGA-66-2766-01A-01D-1522-08	TCGA-66-2766-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	452b75d0-1818-46aa-8804-9cfc0bd66449	81a4d615-e95e-4c17-87f7-c06d8dd4975a	g.chr11:105009724A>T	ENST00000530950.1	-	2	88	c.89T>A	c.(88-90)tTa>tAa	p.L30*	CARD18_ENST00000526823.1_5'UTR|CARD18_ENST00000532895.1_5'UTR	NM_021571.3	NP_067546.1	P57730	CAR18_HUMAN	caspase recruitment domain family, member 18	30	CARD. {ECO:0000255|PROSITE- ProRule:PRU00046}.				inflammatory response (GO:0006954)|regulation of apoptotic process (GO:0042981)		cysteine-type endopeptidase inhibitor activity (GO:0004869)	p.L30*(1)		central_nervous_system(1)|ovary(1)	2						TTCATCCTCTAATAGGCAATC	0.408																																						uc001pis.2																			1	Substitution - Nonsense(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.(82-84)TTA>TAA		ICEBERG caspase-1 inhibitor							153.0	140.0	144.0					11																	105009724		1910	4120	6030	SO:0001587	stop_gained	59082				inflammatory response|regulation of apoptosis	intracellular	cysteine-type endopeptidase inhibitor activity	g.chr11:105009724A>T	AY358231	CCDS53705.1	11q22.3	2008-09-02				ENSG00000255501			28861	protein-coding gene	gene with protein product		605354				11051551	Standard	NM_021571		Approved	UNQ5804, ICEBERG, pseudo-ICE	uc021qpy.1	P57730		ENST00000530950.1:c.89T>A	11.37:g.105009724A>T	ENSP00000436691:p.Leu30*						p.L28*	NM_021571	NP_067546	P57730	CAR18_HUMAN			1	89	-			30			CARD.		A2RRF8	Nonsense_Mutation	SNP	ENST00000530950.1	37	c.83T>A	CCDS53705.1	.	.	.	.	.	.	.	.	.	.	.	11.36	1.614658	0.28712	.	.	ENSG00000255501	ENST00000530950	.	.	.	2.71	0.118	0.14667	.	0.267982	0.30639	U	0.009190	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	3.2699	0.06878	0.5157:0.2459:0.0:0.2384	.	.	.	.	X	30	.	ENSP00000436691:L30X	L	-	2	0	CARD18	104514934	0.000000	0.05858	0.000000	0.03702	0.010000	0.07245	0.935000	0.28924	0.011000	0.14865	-0.514000	0.04452	TTA		PASS	0.408	CARD18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388183.2	NM_021571		114	40	114	40	---	---	---	---
DSCAML1	57453	broad.mit.edu	37	11	117342716	117342716	+	Missense_Mutation	SNP	A	A	T			TCGA-66-2766-01A-01D-1522-08	TCGA-66-2766-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	452b75d0-1818-46aa-8804-9cfc0bd66449	81a4d615-e95e-4c17-87f7-c06d8dd4975a	g.chr11:117342716A>T	ENST00000321322.6	-	15	3002	c.3001T>A	c.(3001-3003)Tcc>Acc	p.S1001T	DSCAML1_ENST00000527706.1_Missense_Mutation_p.S731T	NM_020693.2	NP_065744.2	Q8TD84	DSCL1_HUMAN	Down syndrome cell adhesion molecule like 1	941	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				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.S1001T(1)		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)		ATGGTGGGGGAGATGTTGCGT	0.537																																						uc001prh.1																			1	Substitution - Missense(1)		lung(1)	ovary(3)|large_intestine(2)|skin(2)|upper_aerodigestive_tract(1)	8						c.(3001-3003)TCC>ACC		Down syndrome cell adhesion molecule like 1							175.0	144.0	154.0					11																	117342716		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.chr11:117342716A>T		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.3001T>A	11.37:g.117342716A>T	ENSP00000315465:p.Ser1001Thr						p.S1001T	NM_020693	NP_065744	Q8TD84	DSCL1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172)	15	3003	-	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)	941			Extracellular (Potential).|Fibronectin type-III 1.		Q76MU9|Q8IZY3|Q8IZY4|Q8WXU7|Q9ULT7	Missense_Mutation	SNP	ENST00000321322.6	37	c.3001T>A	CCDS8384.1	.	.	.	.	.	.	.	.	.	.	A	16.89	3.247650	0.59103	.	.	ENSG00000177103	ENST00000527706;ENST00000321322;ENST00000446508	T;T	0.58358	0.34;0.34	4.17	4.17	0.49024	Fibronectin, type III (4);Immunoglobulin-like fold (1);	.	.	.	.	T	0.60586	0.2280	L	0.37897	1.145	0.80722	D	1	D	0.76494	0.999	D	0.91635	0.999	T	0.56902	-0.7902	9	0.27785	T	0.31	.	13.3899	0.60818	1.0:0.0:0.0:0.0	.	941	Q8TD84	DSCL1_HUMAN	T	731;1001;708	ENSP00000434335:S731T;ENSP00000315465:S1001T	ENSP00000315465:S1001T	S	-	1	0	DSCAML1	116847926	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.127000	0.94417	1.733000	0.51620	0.374000	0.22700	TCC		PASS	0.537	DSCAML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392907.2	NM_020693		32	72	32	72	---	---	---	---
RERGL	79785	broad.mit.edu	37	12	18242192	18242192	+	Missense_Mutation	SNP	T	T	C			TCGA-66-2766-01A-01D-1522-08	TCGA-66-2766-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	452b75d0-1818-46aa-8804-9cfc0bd66449	81a4d615-e95e-4c17-87f7-c06d8dd4975a	g.chr12:18242192T>C	ENST00000229002.2	-	2	232	c.26A>G	c.(25-27)tAt>tGt	p.Y9C	RERGL_ENST00000536890.1_Intron|RERGL_ENST00000541632.1_Intron|RERGL_ENST00000538724.1_Intron	NM_024730.2	NP_079006.1	Q9H628	RERGL_HUMAN	RERG/RAS-like	9	Small GTPase-like.				GTP catabolic process (GO:0006184)|small GTPase mediated signal transduction (GO:0007264)	membrane (GO:0016020)	GTP binding (GO:0005525)	p.Y9C(2)		endometrium(1)|large_intestine(5)|lung(8)|prostate(1)|skin(1)|urinary_tract(1)	17						TTTCTCATTATATTTGAGATG	0.338																																						uc001rdq.2																			2	Substitution - Missense(2)		lung(2)		0						c.(25-27)TAT>TGT		RERG/RAS-like							87.0	78.0	81.0					12																	18242192		2201	4296	6497	SO:0001583	missense	79785				signal transduction	membrane	GTP binding|GTPase activity	g.chr12:18242192T>C	AK026308	CCDS8679.1, CCDS66332.1	12p12.3	2014-08-12			ENSG00000111404	ENSG00000111404			26213	protein-coding gene	gene with protein product						24127187	Standard	NM_001286201		Approved	FLJ22655	uc001rdq.3	Q9H628	OTTHUMG00000168820	ENST00000229002.2:c.26A>G	12.37:g.18242192T>C	ENSP00000229002:p.Tyr9Cys					RERGL_uc001rdr.2_Intron	p.Y9C	NM_024730	NP_079006	Q9H628	RERGL_HUMAN			2	220	-			9			Small GTPase-like.			Missense_Mutation	SNP	ENST00000229002.2	37	c.26A>G	CCDS8679.1	.	.	.	.	.	.	.	.	.	.	T	8.559	0.877350	0.17395	.	.	ENSG00000111404	ENST00000229002	T	0.74526	-0.85	3.81	-3.23	0.05109	.	1.003210	0.08030	N	0.993414	T	0.47078	0.1426	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.30001	-0.9993	10	0.87932	D	0	.	0.6244	0.00783	0.4064:0.2385:0.1196:0.2355	.	9	Q9H628	RERGL_HUMAN	C	9	ENSP00000229002:Y9C	ENSP00000229002:Y9C	Y	-	2	0	RERGL	18133459	0.001000	0.12720	0.000000	0.03702	0.086000	0.17979	-0.232000	0.09055	-0.632000	0.05553	0.383000	0.25322	TAT		PASS	0.338	RERGL-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000401198.1	NM_024730		55	47	55	47	---	---	---	---
SPX	80763	broad.mit.edu	37	12	21681971	21681971	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2766-01A-01D-1522-08	TCGA-66-2766-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	452b75d0-1818-46aa-8804-9cfc0bd66449	81a4d615-e95e-4c17-87f7-c06d8dd4975a	g.chr12:21681971C>T	ENST00000256969.2	+	5	411	c.245C>T	c.(244-246)cCg>cTg	p.P82L	C12orf39_ENST00000543800.1_3'UTR	NM_030572.2	NP_085049.1	Q9BT56	SPXN_HUMAN		82					long-chain fatty acid import (GO:0044539)|negative regulation of appetite (GO:0032099)|negative regulation of heart rate (GO:0010459)|negative regulation of renal sodium excretion (GO:0035814)|positive regulation of systemic arterial blood pressure (GO:0003084)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of sensory perception of pain (GO:0051930)	cytoplasmic vesicle (GO:0031410)|extracellular space (GO:0005615)	neuropeptide hormone activity (GO:0005184)|type 2 galanin receptor binding (GO:0031765)|type 3 galanin receptor binding (GO:0031766)	p.P82L(1)		endometrium(3)|large_intestine(1)|lung(2)|urinary_tract(1)	7						CTAACTATTCCGGAGGCAGCA	0.408																																						uc001rfa.1																			1	Substitution - Missense(1)		lung(1)		0						c.(244-246)CCG>CTG		spexin precursor							171.0	174.0	173.0					12																	21681971		2203	4300	6503	SO:0001583	missense	80763					extracellular region|nucleus|transport vesicle		g.chr12:21681971C>T																												ENST00000256969.2:c.245C>T	12.37:g.21681971C>T	ENSP00000256969:p.Pro82Leu					C12orf39_uc009ziv.1_RNA|C12orf39_uc009ziw.1_RNA	p.P82L	NM_030572	NP_085049	Q9BT56	SPXN_HUMAN			5	396	+			82					B3KND6	Missense_Mutation	SNP	ENST00000256969.2	37	c.245C>T	CCDS31757.1	.	.	.	.	.	.	.	.	.	.	C	7.608	0.674129	0.14841	.	.	ENSG00000134548	ENST00000256969	.	.	.	4.94	4.06	0.47325	.	0.517985	0.19875	N	0.104101	T	0.51176	0.1659	L	0.54323	1.7	0.34982	D	0.754223	B	0.25667	0.131	B	0.20384	0.029	T	0.62831	-0.6771	9	0.72032	D	0.01	-9.3159	10.7364	0.46128	0.0:0.911:0.0:0.089	.	82	Q9BT56	SPXN_HUMAN	L	82	.	ENSP00000256969:P82L	P	+	2	0	C12orf39	21573238	0.020000	0.18652	0.946000	0.38457	0.076000	0.17211	0.912000	0.28597	1.443000	0.47586	0.650000	0.86243	CCG		PASS	0.408	C12orf39-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402389.1			201	163	201	163	---	---	---	---
SOX5	6660	broad.mit.edu	37	12	23818453	23818453	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2766-01A-01D-1522-08	TCGA-66-2766-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	452b75d0-1818-46aa-8804-9cfc0bd66449	81a4d615-e95e-4c17-87f7-c06d8dd4975a	g.chr12:23818453C>T	ENST00000451604.2	-	7	957	c.856G>A	c.(856-858)Gat>Aat	p.D286N	SOX5_ENST00000541536.1_Missense_Mutation_p.D273N|SOX5_ENST00000381381.2_Missense_Mutation_p.D273N|SOX5_ENST00000537393.1_Missense_Mutation_p.D251N|SOX5_ENST00000546136.1_Missense_Mutation_p.D273N|SOX5_ENST00000545921.1_Missense_Mutation_p.D276N|SOX5_ENST00000309359.1_Missense_Mutation_p.D273N			P35711	SOX5_HUMAN	SRY (sex determining region Y)-box 5	286					cartilage development (GO:0051216)|cell fate commitment (GO:0045165)|cellular response to transforming growth factor beta stimulus (GO:0071560)|central nervous system neuron differentiation (GO:0021953)|in utero embryonic development (GO:0001701)|negative regulation of transcription, DNA-templated (GO:0045892)|oligodendrocyte differentiation (GO:0048709)|positive regulation of cartilage development (GO:0061036)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of mesenchymal stem cell differentiation (GO:2000741)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of timing of neuron differentiation (GO:0060164)|transcription from RNA polymerase II promoter (GO:0006366)	nuclear transcription factor complex (GO:0044798)	sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)	p.D286N(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(25)|ovary(5)|skin(2)|upper_aerodigestive_tract(3)	57						GTCCGTTGATCAGGAGGGAAT	0.493																																						uc001rfw.2																			1	Substitution - Missense(1)		lung(1)	ovary(5)|lung(1)	6						c.(856-858)GAT>AAT		SRY (sex determining region Y)-box 5 isoform a							128.0	128.0	128.0					12																	23818453		2203	4300	6503	SO:0001583	missense	6660				transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr12:23818453C>T	AB081589	CCDS8699.1, CCDS41761.1, CCDS44844.1, CCDS58216.1, CCDS58217.1	12p12.1	2010-04-20			ENSG00000134532	ENSG00000134532		"""SRY (sex determining region Y)-boxes"""	11201	protein-coding gene	gene with protein product		604975				8812465	Standard	NM_006940		Approved	L-SOX5, MGC35153	uc001rfw.3	P35711	OTTHUMG00000169026	ENST00000451604.2:c.856G>A	12.37:g.23818453C>T	ENSP00000398273:p.Asp286Asn					SOX5_uc001rfx.2_Missense_Mutation_p.D273N|SOX5_uc001rfy.2_Missense_Mutation_p.D273N|SOX5_uc010siv.1_Missense_Mutation_p.D273N|SOX5_uc010siw.1_RNA|SOX5_uc001rfz.1_Missense_Mutation_p.D238N	p.D286N	NM_006940	NP_008871	P35711	SOX5_HUMAN			7	958	-			286					B7Z8V0|F5H5B0|Q86UK8|Q8J017|Q8J018|Q8J019|Q8J020|Q8N1D9|Q8N7E0|Q8TEA4	Missense_Mutation	SNP	ENST00000451604.2	37	c.856G>A	CCDS8699.1	.	.	.	.	.	.	.	.	.	.	C	32	5.124166	0.94429	.	.	ENSG00000134532	ENST00000546136;ENST00000309359;ENST00000381381;ENST00000451604;ENST00000435266;ENST00000537393;ENST00000541536;ENST00000545921	D;D;D;D;D;D;D	0.97161	-4.26;-4.26;-4.26;-4.27;-4.23;-4.26;-4.26	5.34	5.34	0.76211	.	0.114504	0.64402	D	0.000011	D	0.97782	0.9272	L	0.49640	1.575	0.80722	D	1	D;D;D	0.89917	1.0;0.996;1.0	D;D;D	0.91635	0.999;0.981;0.999	D	0.97323	0.9945	10	0.38643	T	0.18	.	19.227	0.93821	0.0:1.0:0.0:0.0	.	251;273;286	F5H0I3;P35711-4;P35711	.;.;SOX5_HUMAN	N	273;273;273;286;238;251;273;276	ENSP00000437487:D273N;ENSP00000308927:D273N;ENSP00000370788:D273N;ENSP00000398273:D286N;ENSP00000439832:D251N;ENSP00000441973:D273N;ENSP00000443520:D276N	ENSP00000308927:D273N	D	-	1	0	SOX5	23709720	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.603000	0.82811	2.767000	0.95098	0.655000	0.94253	GAT		PASS	0.493	SOX5-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000402006.2	NM_006940		54	144	54	144	---	---	---	---
DDX11	1663	broad.mit.edu	37	12	31242059	31242059	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2766-01A-01D-1522-08	TCGA-66-2766-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	452b75d0-1818-46aa-8804-9cfc0bd66449	81a4d615-e95e-4c17-87f7-c06d8dd4975a	g.chr12:31242059C>T	ENST00000407793.2	+	7	1017	c.766C>T	c.(766-768)Cgg>Tgg	p.R256W	DDX11_ENST00000228264.6_Missense_Mutation_p.R230W|DDX11_ENST00000350437.4_Missense_Mutation_p.R256W|DDX11_ENST00000251758.5_3'UTR|DDX11_ENST00000542838.1_Missense_Mutation_p.R256W|DDX11_ENST00000545668.1_Missense_Mutation_p.R256W	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	256	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.R256W(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)					CAAGGATGTTCGGCTGGTCTC	0.542										Multiple Myeloma(12;0.14)																												uc001rjt.1																			2	Substitution - Missense(2)		lung(2)	breast(3)	3						c.(766-768)CGG>TGG		DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 11							82.0	79.0	80.0					12																	31242059		2203	4300	6503	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.chr12:31242059C>T	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.766C>T	12.37:g.31242059C>T	ENSP00000384703:p.Arg256Trp	Multiple Myeloma(12;0.14)				DDX11_uc010sjw.1_Missense_Mutation_p.R256W|DDX11_uc010sjx.1_RNA|DDX11_uc001rjr.1_Missense_Mutation_p.R256W|DDX11_uc001rjs.1_Missense_Mutation_p.R256W|DDX11_uc001rju.1_5'UTR|DDX11_uc001rjv.1_Missense_Mutation_p.R256W|DDX11_uc001rjw.1_Missense_Mutation_p.R230W|DDX11_uc001rjx.1_5'UTR|DDX11_uc009zjn.1_RNA	p.R256W	NM_152438	NP_689651	Q96FC9	DDX11_HUMAN			7	1017	+	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)		256			Helicase ATP-binding.		Q13333|Q86VQ4|Q86W62|Q92498|Q92770|Q92998|Q92999	Missense_Mutation	SNP	ENST00000407793.2	37	c.766C>T	CCDS44856.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	9.858|9.858	1.195602|1.195602	0.22037|0.22037	.|.	.|.	ENSG00000013573|ENSG00000013573	ENST00000542838;ENST00000407793;ENST00000228264;ENST00000438391;ENST00000545668;ENST00000350437|ENST00000404673	T;T;T;T;T;T|.	0.49432|.	0.78;0.78;0.78;0.78;0.78;0.78|.	3.64|3.64	0.553|0.553	0.17235|0.17235	DEAD2 (1);Helicase-like, DEXD box c2 type (1);Helicase, superfamily 1/2, ATP-binding domain, DinG/Rad3-type (1);|.	0.057164|.	0.64402|.	D|.	0.000001|.	T|T	0.57272|0.57272	0.2042|0.2042	M|M	0.90814|0.90814	3.15|3.15	0.28975|0.28975	N|N	0.889012|0.889012	D;D;D;D|.	0.89917|.	1.0;1.0;1.0;1.0|.	D;D;D;D|.	0.83275|.	0.983;0.996;0.979;0.986|.	T|T	0.52578|0.52578	-0.8557|-0.8557	10|6	0.87932|0.25106	D|T	0|0.35	.|.	5.042|5.042	0.14463|0.14463	0.5326:0.3598:0.0:0.1076|0.5326:0.3598:0.0:0.1076	.|.	256;256;256;256|.	B4DZY1;Q96FC9;Q96FC9-4;Q96FC9-2|.	.;DDX11_HUMAN;.;.|.	W|L	256;256;230;227;256;256|10	ENSP00000443426:R256W;ENSP00000384703:R256W;ENSP00000228264:R230W;ENSP00000407646:R227W;ENSP00000440402:R256W;ENSP00000309965:R256W|.	ENSP00000228264:R230W|ENSP00000385471:S10L	R|S	+|+	1|2	2|0	DDX11|DDX11	31133326|31133326	0.979000|0.979000	0.34478|0.34478	0.001000|0.001000	0.08648|0.08648	0.013000|0.013000	0.08279|0.08279	2.509000|2.509000	0.45459|0.45459	-0.090000|-0.090000	0.12462|0.12462	0.505000|0.505000	0.49811|0.49811	CGG|TCG		PASS	0.542	DDX11-202	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000399728.1	NM_030653		4	140	4	140	---	---	---	---
PKP2	5318	broad.mit.edu	37	12	33030864	33030864	+	Missense_Mutation	SNP	G	G	A			TCGA-66-2766-01A-01D-1522-08	TCGA-66-2766-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	452b75d0-1818-46aa-8804-9cfc0bd66449	81a4d615-e95e-4c17-87f7-c06d8dd4975a	g.chr12:33030864G>A	ENST00000070846.6	-	3	974	c.950C>T	c.(949-951)gCg>gTg	p.A317V	PKP2_ENST00000340811.4_Missense_Mutation_p.A317V	NM_004572.3	NP_004563.2	Q99959	PKP2_HUMAN	plakophilin 2	317					adherens junction maintenance (GO:0034334)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|cardiac muscle cell action potential (GO:0086001)|cardiac muscle cell action potential involved in contraction (GO:0086002)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cell-cell signaling involved in cardiac conduction (GO:0086019)|desmosome assembly (GO:0002159)|gap junction assembly (GO:0016264)|heart development (GO:0007507)|intermediate filament bundle assembly (GO:0045110)|lipid homeostasis (GO:0055088)|maintenance of organ identity (GO:0048496)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|positive regulation of sodium ion transport (GO:0010765)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of tight junction assembly (GO:2000810)|single organismal cell-cell adhesion (GO:0016337)|ventricular cardiac muscle cell action potential (GO:0086005)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	adherens junction (GO:0005912)|cell junction (GO:0030054)|cell-cell junction (GO:0005911)|desmosome (GO:0030057)|integral component of membrane (GO:0016021)|intercalated disc (GO:0014704)|intermediate filament (GO:0005882)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	intermediate filament binding (GO:0019215)|ion channel binding (GO:0044325)|protein complex scaffold (GO:0032947)|protein kinase C binding (GO:0005080)|sodium channel regulator activity (GO:0017080)	p.A317V(1)		NS(1)|breast(2)|endometrium(1)|kidney(9)|large_intestine(8)|lung(21)|ovary(1)|pancreas(2)|prostate(2)|skin(2)|urinary_tract(1)	50	Lung NSC(5;9.35e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.239)					AGTCAAGTGCGCTCTCCTCCC	0.637																																						uc001rlj.3																			1	Substitution - Missense(1)		lung(1)	ovary(1)|pancreas(1)	2						c.(949-951)GCG>GTG		plakophilin 2 isoform 2b							48.0	45.0	46.0					12																	33030864		2203	4300	6503	SO:0001583	missense	5318				cell-cell adhesion	desmosome|integral to membrane|nucleus	binding	g.chr12:33030864G>A	X97675	CCDS8731.1, CCDS31771.1	12p11	2014-09-17				ENSG00000057294		"""Armadillo repeat containing"""	9024	protein-coding gene	gene with protein product		602861				8922383	Standard	NM_001005242		Approved		uc001rlj.4	Q99959	OTTHUMG00000169500	ENST00000070846.6:c.950C>T	12.37:g.33030864G>A	ENSP00000070846:p.Ala317Val					PKP2_uc001rlk.3_Missense_Mutation_p.A317V|PKP2_uc010skj.1_Missense_Mutation_p.A317V	p.A317V	NM_004572	NP_004563	Q99959	PKP2_HUMAN			3	1065	-	Lung NSC(5;9.35e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.239)		317					A0AV37|B8QFA1|B8QGS6|B8QGS7|D3DUW9|Q4VC01|Q99960	Missense_Mutation	SNP	ENST00000070846.6	37	c.950C>T	CCDS8731.1	.	.	.	.	.	.	.	.	.	.	G	2.767	-0.256653	0.05829	.	.	ENSG00000057294	ENST00000340811;ENST00000070846;ENST00000537278	T;T	0.79033	-1.23;-1.18	5.37	-0.498	0.12019	.	492.248000	0.00166	U	0.000000	T	0.58921	0.2156	N	0.08118	0	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.48758	-0.9007	10	0.12766	T	0.61	-4.7398	9.1687	0.37067	0.6181:0.0:0.3819:0.0	.	317;317;317	Q99959-2;A0AV37;Q99959	.;.;PKP2_HUMAN	V	317	ENSP00000342800:A317V;ENSP00000070846:A317V	ENSP00000070846:A317V	A	-	2	0	PKP2	32922131	0.000000	0.05858	0.000000	0.03702	0.069000	0.16628	0.405000	0.21015	-0.137000	0.11455	0.585000	0.79938	GCG		PASS	0.637	PKP2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000404449.1	NM_004572		37	36	37	36	---	---	---	---
ABCD2	225	broad.mit.edu	37	12	39947905	39947905	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2766-01A-01D-1522-08	TCGA-66-2766-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	452b75d0-1818-46aa-8804-9cfc0bd66449	81a4d615-e95e-4c17-87f7-c06d8dd4975a	g.chr12:39947905C>A	ENST00000308666.3	-	10	2167	c.2032G>T	c.(2032-2034)Gat>Tat	p.D678Y		NM_005164.3	NP_005155.1	Q9UBJ2	ABCD2_HUMAN	ATP-binding cassette, sub-family D (ALD), member 2	678	ABC transporter. {ECO:0000255|PROSITE- ProRule:PRU00434}.				fatty acid beta-oxidation (GO:0006635)|positive regulation of fatty acid beta-oxidation (GO:0032000)|transmembrane transport (GO:0055085)|very long-chain fatty acid catabolic process (GO:0042760)|very long-chain fatty acid metabolic process (GO:0000038)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|mitochondrion (GO:0005739)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|protein homodimerization activity (GO:0042803)	p.D678Y(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|lung(24)|ovary(2)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	52						CCTTCACCATCAAACTGTAAT	0.328																																						uc001rmb.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|upper_aerodigestive_tract(1)|pancreas(1)|central_nervous_system(1)|skin(1)	6						c.(2032-2034)GAT>TAT		ATP-binding cassette, sub-family D, member 2							88.0	86.0	87.0					12																	39947905		2203	4300	6503	SO:0001583	missense	225				fatty acid metabolic process|transport	ATP-binding cassette (ABC) transporter complex|integral to plasma membrane|peroxisomal membrane	ATP binding|ATPase activity|protein binding	g.chr12:39947905C>A	U28150	CCDS8734.1	12q12	2012-05-16			ENSG00000173208	ENSG00000173208		"""ATP binding cassette transporters / subfamily D"""	66	protein-coding gene	gene with protein product		601081		ALDL1		8577752	Standard	NM_005164		Approved	ALDR, ALDRP	uc001rmb.2	Q9UBJ2	OTTHUMG00000169337	ENST00000308666.3:c.2032G>T	12.37:g.39947905C>A	ENSP00000310688:p.Asp678Tyr						p.D678Y	NM_005164	NP_005155	Q9UBJ2	ABCD2_HUMAN			10	2458	-			678			ABC transporter.		B2RAM3|Q13210|Q2M3H9	Missense_Mutation	SNP	ENST00000308666.3	37	c.2032G>T	CCDS8734.1	.	.	.	.	.	.	.	.	.	.	C	24.3	4.511248	0.85389	.	.	ENSG00000173208	ENST00000308666	D	0.99857	-7.22	5.1	5.1	0.69264	ATPase, AAA+ type, core (1);ABC transporter-like (1);	0.000000	0.85682	D	0.000000	D	0.99887	0.9946	M	0.91459	3.21	0.80722	D	1	D	0.89917	1.0	D	0.75484	0.986	D	0.96493	0.9365	9	.	.	.	-3.0795	18.8712	0.92315	0.0:1.0:0.0:0.0	.	678	Q9UBJ2	ABCD2_HUMAN	Y	678	ENSP00000310688:D678Y	.	D	-	1	0	ABCD2	38234172	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.984000	0.70548	2.535000	0.85469	0.655000	0.94253	GAT		PASS	0.328	ABCD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403591.1	NM_005164		89	77	89	77	---	---	---	---
ACVRL1	94	broad.mit.edu	37	12	52306925	52306925	+	Missense_Mutation	SNP	C	C	A	rs376537508		TCGA-66-2766-01A-01D-1522-08	TCGA-66-2766-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	452b75d0-1818-46aa-8804-9cfc0bd66449	81a4d615-e95e-4c17-87f7-c06d8dd4975a	g.chr12:52306925C>A	ENST00000388922.4	+	3	387	c.104C>A	c.(103-105)aCg>aAg	p.T35K	ACVRL1_ENST00000550683.1_Missense_Mutation_p.T49K|ACVRL1_ENST00000419526.2_Intron	NM_000020.2	NP_000011.2	P37023	ACVL1_HUMAN	activin A receptor type II-like 1	35					activin receptor signaling pathway (GO:0032924)|angiogenesis (GO:0001525)|artery development (GO:0060840)|blood circulation (GO:0008015)|blood vessel endothelial cell proliferation involved in sprouting angiogenesis (GO:0002043)|blood vessel maturation (GO:0001955)|blood vessel remodeling (GO:0001974)|BMP signaling pathway (GO:0030509)|cellular response to BMP stimulus (GO:0071773)|cellular response to transforming growth factor beta stimulus (GO:0071560)|endothelial tube morphogenesis (GO:0061154)|in utero embryonic development (GO:0001701)|lymphangiogenesis (GO:0001946)|lymphatic endothelial cell differentiation (GO:0060836)|negative regulation of blood vessel endothelial cell migration (GO:0043537)|negative regulation of cell adhesion (GO:0007162)|negative regulation of cell growth (GO:0030308)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA biosynthetic process (GO:2000279)|negative regulation of endothelial cell differentiation (GO:0045602)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of focal adhesion assembly (GO:0051895)|positive regulation of angiogenesis (GO:0045766)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of endothelial cell differentiation (GO:0045603)|positive regulation of endothelial cell proliferation (GO:0001938)|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)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of blood pressure (GO:0008217)|regulation of blood vessel endothelial cell migration (GO:0043535)|regulation of DNA replication (GO:0006275)|regulation of endothelial cell proliferation (GO:0001936)|regulation of transcription, DNA-templated (GO:0006355)|retina vasculature development in camera-type eye (GO:0061298)|signal transduction (GO:0007165)|transforming growth factor beta receptor signaling pathway (GO:0007179)|venous blood vessel development (GO:0060841)|wound healing, spreading of epidermal cells (GO:0035313)	cell surface (GO:0009986)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)	activin binding (GO:0048185)|activin receptor activity, type I (GO:0016361)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)|receptor signaling protein serine/threonine kinase activity (GO:0004702)|SMAD binding (GO:0046332)|transforming growth factor beta binding (GO:0050431)|transforming growth factor beta receptor activity, type I (GO:0005025)|transforming growth factor beta-activated receptor activity (GO:0005024)|transmembrane receptor protein serine/threonine kinase activity (GO:0004675)	p.T35K(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|urinary_tract(1)	20				BRCA - Breast invasive adenocarcinoma(357;0.0991)	Adenosine triphosphate(DB00171)	GTGACCTGCACGTGTGAGAGC	0.687																																						uc001rzj.2																			1	Substitution - Missense(1)		lung(1)	lung(2)	2						c.(103-105)ACG>AAG		activin A receptor type II-like 1 precursor	Adenosine triphosphate(DB00171)						16.0	18.0	18.0					12																	52306925		2202	4298	6500	SO:0001583	missense	94	Hereditary_Hemorrhagic_Telangiectasia			blood vessel endothelial cell proliferation involved in sprouting angiogenesis|blood vessel maturation|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of endothelial cell migration|negative regulation of focal adhesion assembly|positive regulation of BMP signaling pathway|positive regulation of transcription, DNA-dependent|regulation of blood pressure|regulation of blood vessel endothelial cell migration|regulation of DNA replication|regulation of endothelial cell proliferation|transforming growth factor beta receptor signaling pathway|wound healing, spreading of epidermal cells	cell surface|integral to plasma membrane	activin binding|activin receptor activity, type I|ATP binding|metal ion binding|receptor signaling protein serine/threonine kinase activity|SMAD binding|transforming growth factor beta binding|transforming growth factor beta receptor activity	g.chr12:52306925C>A	L17075	CCDS31804.1	12q13.13	2014-09-17			ENSG00000139567	ENSG00000139567			175	protein-coding gene	gene with protein product		601284		ACVRLK1, ORW2		8397373, 8640225	Standard	NM_000020		Approved	HHT2, ALK1, HHT	uc001rzk.3	P37023	OTTHUMG00000169507	ENST00000388922.4:c.104C>A	12.37:g.52306925C>A	ENSP00000373574:p.Thr35Lys					ACVRL1_uc001rzk.2_Missense_Mutation_p.T35K|ACVRL1_uc010snm.1_Intron	p.T35K	NM_000020	NP_000011	P37023	ACVL1_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.0991)	3	387	+			35			Extracellular (Potential).		A6NGA8	Missense_Mutation	SNP	ENST00000388922.4	37	c.104C>A	CCDS31804.1	.	.	.	.	.	.	.	.	.	.	C	8.032	0.761945	0.15914	.	.	ENSG00000139567	ENST00000388922;ENST00000267008;ENST00000547400;ENST00000550683	D;D;D	0.97598	-4.45;-4.45;-4.45	5.76	3.94	0.45596	.	0.000000	0.45126	D	0.000400	D	0.93641	0.7969	N	0.22421	0.69	0.09310	N	0.999995	P	0.42973	0.796	P	0.47206	0.541	D	0.87432	0.2389	10	0.28530	T	0.3	.	8.1597	0.31192	0.0:0.823:0.0:0.177	.	35	P37023	ACVL1_HUMAN	K	35;35;49;49	ENSP00000373574:T35K;ENSP00000446724:T49K;ENSP00000447884:T49K	ENSP00000267008:T35K	T	+	2	0	ACVRL1	50593192	0.020000	0.18652	0.662000	0.29724	0.159000	0.22180	0.509000	0.22707	1.448000	0.47680	-0.123000	0.14984	ACG		PASS	0.687	ACVRL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404520.2			13	9	13	9	---	---	---	---
DNAJC14	85406	broad.mit.edu	37	12	56221176	56221176	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2766-01A-01D-1522-08	TCGA-66-2766-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	452b75d0-1818-46aa-8804-9cfc0bd66449	81a4d615-e95e-4c17-87f7-c06d8dd4975a	g.chr12:56221176G>T	ENST00000357606.3	-	3	1556	c.1267C>A	c.(1267-1269)Cag>Aag	p.Q423K	DNAJC14_ENST00000317269.3_Missense_Mutation_p.Q423K|RP11-762I7.5_ENST00000546837.1_Missense_Mutation_p.P52Q|DNAJC14_ENST00000317287.5_Missense_Mutation_p.Q423K|TMEM198B_ENST00000478241.1_RNA			Q6Y2X3	DJC14_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 14	423					protein transport (GO:0015031)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)		p.Q423K(1)		breast(2)|kidney(1)|large_intestine(8)|lung(7)|ovary(3)|prostate(1)|skin(1)	23						TCTTCAGGCTGGCAGTAGCGC	0.542																																						uc001shx.1																			1	Substitution - Missense(1)		lung(1)	ovary(3)|large_intestine(1)	4						c.(1267-1269)CAG>AAG		dopamine receptor interacting protein							148.0	136.0	140.0					12																	56221176		2203	4300	6503	SO:0001583	missense	85406				protein folding|protein transport	endoplasmic reticulum membrane|integral to membrane	heat shock protein binding|unfolded protein binding	g.chr12:56221176G>T	AF141342	CCDS8894.1	12q12	2011-09-02				ENSG00000135392		"""Heat shock proteins / DNAJ (HSP40)"""	24581	protein-coding gene	gene with protein product		606092				11331877, 11984006	Standard	NM_032364		Approved	DNAJ, DRIP78, HDJ3, LIP6, FLJ32792	uc001shu.2	Q6Y2X3		ENST00000357606.3:c.1267C>A	12.37:g.56221176G>T	ENSP00000350223:p.Gln423Lys					DNAJC14_uc001shu.1_Missense_Mutation_p.Q423K|DNAJC14_uc009zob.1_Missense_Mutation_p.Q423K|DNAJC14_uc001shy.1_Missense_Mutation_p.Q423K	p.Q423K	NM_032364	NP_115740	Q6Y2X3	DJC14_HUMAN			2	1471	-			423					A5YM67|Q17RY2|Q66K17|Q96N59|Q96T63	Missense_Mutation	SNP	ENST00000357606.3	37	c.1267C>A	CCDS8894.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	19.69|19.69	3.874321|3.874321	0.72180|0.72180	.|.	.|.	ENSG00000257390|ENSG00000135392	ENST00000546837|ENST00000357606;ENST00000317269;ENST00000537962;ENST00000317287	.|T;T;T	.|0.32988	.|1.43;1.43;1.43	4.56|4.56	4.56|4.56	0.56223|0.56223	.|.	.|0.376195	.|0.22927	.|N	.|0.053942	T|T	0.23806|0.23806	0.0576|0.0576	L|L	0.27053|0.27053	0.805|0.805	0.42916|0.42916	D|D	0.994279|0.994279	.|B;B	.|0.27498	.|0.18;0.18	.|B;B	.|0.25405	.|0.037;0.06	T|T	0.06570|0.06570	-1.0819|-1.0819	5|10	.|0.46703	.|T	.|0.11	-2.0857|-2.0857	15.2425|15.2425	0.73482|0.73482	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|423;423	.|Q6Y2X3;A8K5A7	.|DJC14_HUMAN;.	Q|K	52|423;423;133;423	.|ENSP00000350223:Q423K;ENSP00000316240:Q423K;ENSP00000317500:Q423K	.|ENSP00000316240:Q423K	P|Q	-|-	2|1	0|0	RP11-762I7.5|DNAJC14	54507443|54507443	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.927000|0.927000	0.56198|0.56198	5.558000|5.558000	0.67319|0.67319	2.535000|2.535000	0.85469|0.85469	0.655000|0.655000	0.94253|0.94253	CCA|CAG		PASS	0.542	DNAJC14-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409095.1	NM_032364		54	247	54	247	---	---	---	---
SLC16A7	9194	broad.mit.edu	37	12	60169162	60169162	+	Silent	SNP	C	C	T			TCGA-66-2766-01A-01D-1522-08	TCGA-66-2766-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	452b75d0-1818-46aa-8804-9cfc0bd66449	81a4d615-e95e-4c17-87f7-c06d8dd4975a	g.chr12:60169162C>T	ENST00000261187.4	+	4	1250	c.1086C>T	c.(1084-1086)ctC>ctT	p.L362L	SLC16A7_ENST00000547379.1_Silent_p.L362L|SLC16A7_ENST00000552432.1_Silent_p.L362L|SLC16A7_ENST00000543448.1_Silent_p.L263L|SLC16A7_ENST00000552024.1_Silent_p.L362L	NM_004731.4	NP_004722.2	O60669	MOT2_HUMAN	solute carrier family 16 (monocarboxylate transporter), member 7	362					lactate transmembrane transport (GO:0035873)|pyruvate transmembrane transport (GO:1901475)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	lactate transmembrane transporter activity (GO:0015129)|pyruvate secondary active transmembrane transporter activity (GO:0005477)|pyruvate transmembrane transporter activity (GO:0050833)|secondary active monocarboxylate transmembrane transporter activity (GO:0015355)|symporter activity (GO:0015293)	p.L362L(1)		endometrium(1)|large_intestine(14)|liver(2)|lung(11)|ovary(1)|skin(1)	30				GBM - Glioblastoma multiforme(3;0.0303)	Gamma Hydroxybutyric Acid(DB01440)|Niflumic Acid(DB04552)|Probenecid(DB01032)|Pyruvic acid(DB00119)	TTGAAACTCTCATGGACCTCG	0.493																																						uc001sqs.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(1084-1086)CTC>CTT		solute carrier family 16, member 7	Pyruvic acid(DB00119)						154.0	140.0	145.0					12																	60169162		2203	4300	6503	SO:0001819	synonymous_variant	9194					integral to plasma membrane|membrane fraction	pyruvate secondary active transmembrane transporter activity|secondary active monocarboxylate transmembrane transporter activity|symporter activity	g.chr12:60169162C>T	AF049608	CCDS8961.1	12q14.1	2013-07-18	2013-07-18		ENSG00000118596	ENSG00000118596		"""Solute carriers"""	10928	protein-coding gene	gene with protein product		603654	"""solute carrier family 16 (monocarboxylic acid transporters), member 7"""			9786900	Standard	NM_004731		Approved	MCT2	uc001sqt.4	O60669	OTTHUMG00000169923	ENST00000261187.4:c.1086C>T	12.37:g.60169162C>T						SLC16A7_uc001sqt.2_Silent_p.L362L|SLC16A7_uc001squ.2_Silent_p.L362L|SLC16A7_uc009zqi.2_Silent_p.L263L|SLC16A7_uc010ssi.1_Silent_p.L263L	p.L362L	NM_004731	NP_004722	O60669	MOT2_HUMAN		GBM - Glioblastoma multiforme(3;0.0303)	5	1385	+			362			Cytoplasmic (Potential).		Q8NEM3|Q9UPB3	Silent	SNP	ENST00000261187.4	37	c.1086C>T	CCDS8961.1																																																																																				PASS	0.493	SLC16A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406587.1	NM_004731		104	381	104	381	---	---	---	---
FAM19A2	338811	broad.mit.edu	37	12	62148671	62148671	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2766-01A-01D-1522-08	TCGA-66-2766-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	452b75d0-1818-46aa-8804-9cfc0bd66449	81a4d615-e95e-4c17-87f7-c06d8dd4975a	g.chr12:62148671C>A	ENST00000416284.3	-	3	1825	c.241G>T	c.(241-243)Gct>Tct	p.A81S	FAM19A2_ENST00000550003.1_5'UTR|FAM19A2_ENST00000551449.1_Intron|FAM19A2_ENST00000551619.1_Missense_Mutation_p.A81S	NM_178539.4	NP_848634.1	Q8N3H0	F19A2_HUMAN	family with sequence similarity 19 (chemokine (C-C motif)-like), member A2	81						cytoplasm (GO:0005737)		p.A81S(1)		endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|ovary(1)|skin(1)|stomach(1)	15			GBM - Glioblastoma multiforme(1;0.00484)	GBM - Glioblastoma multiforme(3;0.02)		CATGATGGAGCAGCTCGCGTG	0.498																																						uc001sqw.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(241-243)GCT>TCT		family with sequence similarity 19 (chemokine							165.0	114.0	131.0					12																	62148671		2203	4300	6503	SO:0001583	missense	338811					cytoplasm		g.chr12:62148671C>A	AY325115	CCDS8962.1	12q14.1	2012-10-03			ENSG00000198673	ENSG00000198673			21589	protein-coding gene	gene with protein product						15028294	Standard	NM_178539		Approved	TAFA-2	uc001sqw.3	Q8N3H0	OTTHUMG00000170207	ENST00000416284.3:c.241G>T	12.37:g.62148671C>A	ENSP00000393987:p.Ala81Ser					FAM19A2_uc001sqv.2_RNA|FAM19A2_uc001sqx.2_Missense_Mutation_p.A81S|FAM19A2_uc001sqy.2_RNA	p.A81S	NM_178539	NP_848634	Q8N3H0	F19A2_HUMAN	GBM - Glioblastoma multiforme(1;0.00484)	GBM - Glioblastoma multiforme(3;0.02)	3	1754	-			81					B3KVV4|Q4G0R9|Q68DK0|Q6GTX6	Missense_Mutation	SNP	ENST00000416284.3	37	c.241G>T	CCDS8962.1	.	.	.	.	.	.	.	.	.	.	C	10.86	1.468864	0.26335	.	.	ENSG00000198673	ENST00000416284;ENST00000551619;ENST00000552075;ENST00000549958;ENST00000548780	.	.	.	5.21	5.21	0.72293	.	0.000000	0.85682	D	0.000000	T	0.44117	0.1278	N	0.25647	0.755	0.80722	D	1	B	0.24317	0.101	B	0.28385	0.089	T	0.31475	-0.9942	8	.	.	.	.	12.2265	0.54463	0.0:0.9222:0.0:0.0778	.	81	Q8N3H0	F19A2_HUMAN	S	81;81;82;88;82	.	.	A	-	1	0	FAM19A2	60434938	0.995000	0.38212	1.000000	0.80357	0.412000	0.31113	3.217000	0.51184	2.455000	0.83008	0.558000	0.71614	GCT		PASS	0.498	FAM19A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407967.2	NM_178539		57	88	57	88	---	---	---	---
TRHDE	29953	broad.mit.edu	37	12	72667238	72667238	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2766-01A-01D-1522-08	TCGA-66-2766-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	452b75d0-1818-46aa-8804-9cfc0bd66449	81a4d615-e95e-4c17-87f7-c06d8dd4975a	g.chr12:72667238C>G	ENST00000261180.4	+	1	776	c.680C>G	c.(679-681)gCg>gGg	p.A227G	TRHDE-AS1_ENST00000426250.3_RNA|TRHDE-AS1_ENST00000550334.1_RNA|TRHDE-AS1_ENST00000435350.1_RNA	NM_013381.2	NP_037513.1	Q9UKU6	TRHDE_HUMAN	thyrotropin-releasing hormone degrading enzyme	227					cell-cell signaling (GO:0007267)|signal transduction (GO:0007165)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	aminopeptidase activity (GO:0004177)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.A227G(1)		NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(38)|ovary(2)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	79						ACACTGGACGCGCAGAGGAAT	0.567																																						uc001sxa.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(1)	3						c.(679-681)GCG>GGG		thyrotropin-releasing hormone degrading enzyme							60.0	61.0	60.0					12																	72667238		2203	4300	6503	SO:0001583	missense	29953				cell-cell signaling|proteolysis|signal transduction	integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|zinc ion binding	g.chr12:72667238C>G	AF126372	CCDS9004.1	12q15-q21	2012-07-25		2005-08-09		ENSG00000072657	3.4.19.6		30748	protein-coding gene	gene with protein product	"""pyroglutamyl-peptidase II"", ""pyroglutamyl aminopeptidase II"", ""TRH-specific aminopeptidase"""	606950				10491199, 12975309	Standard	NM_013381		Approved	PGPEP2, TRH-DE, PAP-II	uc001sxa.3	Q9UKU6		ENST00000261180.4:c.680C>G	12.37:g.72667238C>G	ENSP00000261180:p.Ala227Gly					LOC283392_uc010stv.1_5'UTR	p.A227G	NM_013381	NP_037513	Q9UKU6	TRHDE_HUMAN			1	710	+			227			Extracellular (Potential).		A5PL19|Q6UWJ4	Missense_Mutation	SNP	ENST00000261180.4	37	c.680C>G	CCDS9004.1	.	.	.	.	.	.	.	.	.	.	C	21.2	4.110242	0.77210	.	.	ENSG00000072657	ENST00000261180	T	0.02944	4.1	5.11	5.11	0.69529	Peptidase M1, membrane alanine aminopeptidase, N-terminal (1);	0.217776	0.39687	N	0.001289	T	0.03520	0.0101	L	0.31371	0.925	0.43555	D	0.995864	B	0.21606	0.058	B	0.18561	0.022	T	0.54057	-0.8350	10	0.34782	T	0.22	.	17.3223	0.87239	0.0:1.0:0.0:0.0	.	227	Q9UKU6	TRHDE_HUMAN	G	227	ENSP00000261180:A227G	ENSP00000261180:A227G	A	+	2	0	TRHDE	70953505	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.557000	0.67313	2.362000	0.80069	0.514000	0.50259	GCG		PASS	0.567	TRHDE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405380.1	NM_013381		51	99	51	99	---	---	---	---
ZDHHC17	23390	broad.mit.edu	37	12	77191305	77191305	+	Missense_Mutation	SNP	T	T	C			TCGA-66-2766-01A-01D-1522-08	TCGA-66-2766-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	452b75d0-1818-46aa-8804-9cfc0bd66449	81a4d615-e95e-4c17-87f7-c06d8dd4975a	g.chr12:77191305T>C	ENST00000426126.2	+	2	834	c.185T>C	c.(184-186)gTc>gCc	p.V62A	ZDHHC17_ENST00000359019.4_Intron|ZDHHC17_ENST00000334822.5_Missense_Mutation_p.V62A	NM_015336.2	NP_056151.2	Q8IUH5	ZDH17_HUMAN	zinc finger, DHHC-type containing 17	62					lipoprotein transport (GO:0042953)|magnesium ion transport (GO:0015693)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|protein palmitoylation (GO:0018345)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi-associated vesicle membrane (GO:0030660)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)	identical protein binding (GO:0042802)|magnesium ion transmembrane transporter activity (GO:0015095)|palmitoyltransferase activity (GO:0016409)|protein-cysteine S-palmitoyltransferase activity (GO:0019706)|signal transducer activity (GO:0004871)|zinc ion binding (GO:0008270)	p.V62A(1)		breast(2)|endometrium(2)|large_intestine(3)|liver(2)|lung(14)	23						TGGGACATAGTCAAGGCTACA	0.353																																						uc001syk.1																			1	Substitution - Missense(1)		lung(1)		0						c.(184-186)GTC>GCC		huntingtin interacting protein 14							102.0	98.0	99.0					12																	77191305		1852	4106	5958	SO:0001583	missense	23390				lipoprotein transport|positive regulation of I-kappaB kinase/NF-kappaB cascade	Golgi-associated vesicle membrane|integral to membrane	magnesium ion transmembrane transporter activity|protein binding|protein-cysteine S-palmitoleyltransferase activity|signal transducer activity|zinc ion binding	g.chr12:77191305T>C	AB023163	CCDS44946.1	12q21.2	2013-01-10				ENSG00000186908		"""Zinc fingers, DHHC-type"", ""Ankyrin repeat domain containing"""	18412	protein-coding gene	gene with protein product		607799				9700202, 18794299	Standard	NM_015336		Approved	HIP14, HYPH, KIAA0946	uc001syk.1	Q8IUH5	OTTHUMG00000169917	ENST00000426126.2:c.185T>C	12.37:g.77191305T>C	ENSP00000403397:p.Val62Ala					ZDHHC17_uc001syi.1_RNA|ZDHHC17_uc001syj.2_Intron	p.V62A	NM_015336	NP_056151	Q8IUH5	ZDH17_HUMAN			2	348	+			62			Cytoplasmic (Potential).		B4DR39|O75407|Q7Z2I0|Q86W89|Q86YK0|Q9P088|Q9UPZ8	Missense_Mutation	SNP	ENST00000426126.2	37	c.185T>C	CCDS44946.1	.	.	.	.	.	.	.	.	.	.	T	26.5	4.742815	0.89573	.	.	ENSG00000186908	ENST00000426126;ENST00000334822;ENST00000549682	T;T;T	0.70749	0.64;0.64;-0.51	5.26	5.26	0.73747	Ankyrin repeat-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.80144	0.4569	L	0.56199	1.76	0.80722	D	1	D	0.71674	0.998	D	0.67231	0.95	T	0.81564	-0.0875	10	0.59425	D	0.04	-10.1605	15.3499	0.74376	0.0:0.0:0.0:1.0	.	62	Q8IUH5	ZDH17_HUMAN	A	62;62;39	ENSP00000403397:V62A;ENSP00000334868:V62A;ENSP00000450295:V39A	ENSP00000334868:V62A	V	+	2	0	ZDHHC17	75715436	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.507000	0.81676	2.223000	0.72356	0.454000	0.30748	GTC		PASS	0.353	ZDHHC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406555.1	NM_015336		15	32	15	32	---	---	---	---
ZDHHC17	23390	broad.mit.edu	37	12	77239565	77239565	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2766-01A-01D-1522-08	TCGA-66-2766-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	452b75d0-1818-46aa-8804-9cfc0bd66449	81a4d615-e95e-4c17-87f7-c06d8dd4975a	g.chr12:77239565G>T	ENST00000426126.2	+	13	2055	c.1406G>T	c.(1405-1407)tGg>tTg	p.W469L	ZDHHC17_ENST00000334822.5_Missense_Mutation_p.W469L|ZDHHC17_ENST00000550789.1_3'UTR	NM_015336.2	NP_056151.2	Q8IUH5	ZDH17_HUMAN	zinc finger, DHHC-type containing 17	469					lipoprotein transport (GO:0042953)|magnesium ion transport (GO:0015693)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|protein palmitoylation (GO:0018345)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi-associated vesicle membrane (GO:0030660)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)	identical protein binding (GO:0042802)|magnesium ion transmembrane transporter activity (GO:0015095)|palmitoyltransferase activity (GO:0016409)|protein-cysteine S-palmitoyltransferase activity (GO:0019706)|signal transducer activity (GO:0004871)|zinc ion binding (GO:0008270)	p.W469L(2)		breast(2)|endometrium(2)|large_intestine(3)|liver(2)|lung(14)	23						CATTGCCCATGGGTGGGTAAC	0.348																																						uc001syk.1																			2	Substitution - Missense(2)		lung(2)		0						c.(1405-1407)TGG>TTG		huntingtin interacting protein 14							178.0	177.0	177.0					12																	77239565		1862	4096	5958	SO:0001583	missense	23390				lipoprotein transport|positive regulation of I-kappaB kinase/NF-kappaB cascade	Golgi-associated vesicle membrane|integral to membrane	magnesium ion transmembrane transporter activity|protein binding|protein-cysteine S-palmitoleyltransferase activity|signal transducer activity|zinc ion binding	g.chr12:77239565G>T	AB023163	CCDS44946.1	12q21.2	2013-01-10				ENSG00000186908		"""Zinc fingers, DHHC-type"", ""Ankyrin repeat domain containing"""	18412	protein-coding gene	gene with protein product		607799				9700202, 18794299	Standard	NM_015336		Approved	HIP14, HYPH, KIAA0946	uc001syk.1	Q8IUH5	OTTHUMG00000169917	ENST00000426126.2:c.1406G>T	12.37:g.77239565G>T	ENSP00000403397:p.Trp469Leu						p.W469L	NM_015336	NP_056151	Q8IUH5	ZDH17_HUMAN			13	1569	+			469			Cytoplasmic (Potential).|DHHC-type.		B4DR39|O75407|Q7Z2I0|Q86W89|Q86YK0|Q9P088|Q9UPZ8	Missense_Mutation	SNP	ENST00000426126.2	37	c.1406G>T	CCDS44946.1	.	.	.	.	.	.	.	.	.	.	G	31	5.076478	0.94000	.	.	ENSG00000186908	ENST00000426126;ENST00000334822	T;T	0.33438	1.41;1.41	5.48	5.48	0.80851	Zinc finger, DHHC-type, palmitoyltransferase (2);	0.158121	0.64402	D	0.000015	T	0.69984	0.3172	H	0.96916	3.905	0.80722	D	1	D	0.69078	0.997	D	0.66084	0.941	T	0.80970	-0.1144	10	0.87932	D	0	-4.8627	19.7119	0.96099	0.0:0.0:1.0:0.0	.	469	Q8IUH5	ZDH17_HUMAN	L	469	ENSP00000403397:W469L;ENSP00000334868:W469L	ENSP00000334868:W469L	W	+	2	0	ZDHHC17	75763696	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.638000	0.98445	2.723000	0.93209	0.650000	0.86243	TGG		PASS	0.348	ZDHHC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406555.1	NM_015336		129	40	129	40	---	---	---	---
ACSS3	79611	broad.mit.edu	37	12	81545798	81545798	+	Missense_Mutation	SNP	G	G	A			TCGA-66-2766-01A-01D-1522-08	TCGA-66-2766-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	452b75d0-1818-46aa-8804-9cfc0bd66449	81a4d615-e95e-4c17-87f7-c06d8dd4975a	g.chr12:81545798G>A	ENST00000548058.1	+	7	1931	c.1021G>A	c.(1021-1023)Gac>Aac	p.D341N	ACSS3_ENST00000548324.1_Missense_Mutation_p.D23N|ACSS3_ENST00000261206.3_Missense_Mutation_p.D340N			Q9H6R3	ACSS3_HUMAN	acyl-CoA synthetase short-chain family member 3	341						mitochondrion (GO:0005739)	acetate-CoA ligase activity (GO:0003987)|ATP binding (GO:0005524)	p.D341N(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(7)|liver(3)|lung(20)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)	51						GGCAGCTTCTGACTTAGGCTG	0.338																																						uc001szl.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|lung(1)|central_nervous_system(1)|skin(1)	4						c.(1021-1023)GAC>AAC		acyl-CoA synthetase short-chain family member 3							106.0	105.0	105.0					12																	81545798		2203	4300	6503	SO:0001583	missense	79611					mitochondrion	acetate-CoA ligase activity|ATP binding	g.chr12:81545798G>A		CCDS9022.1	12q21.31	2014-08-08			ENSG00000111058	ENSG00000111058		"""Acyl-CoA synthetase family"""	24723	protein-coding gene	gene with protein product		614356				17762044	Standard	NM_024560		Approved	FLJ21963	uc001szl.1	Q9H6R3	OTTHUMG00000170179	ENST00000548058.1:c.1021G>A	12.37:g.81545798G>A	ENSP00000449535:p.Asp341Asn					ACSS3_uc001szm.1_Missense_Mutation_p.D340N|ACSS3_uc001szn.1_Missense_Mutation_p.D23N	p.D341N	NM_024560	NP_078836	Q9H6R3	ACSS3_HUMAN			7	1112	+			341					Q8NC66	Missense_Mutation	SNP	ENST00000548058.1	37	c.1021G>A	CCDS9022.1	.	.	.	.	.	.	.	.	.	.	G	32	5.174490	0.94807	.	.	ENSG00000111058	ENST00000548058;ENST00000261206;ENST00000548324	T;T;T	0.42131	0.98;0.98;0.98	5.74	5.74	0.90152	AMP-dependent synthetase/ligase (1);	0.000000	0.85682	D	0.000000	T	0.74711	0.3752	M	0.92784	3.345	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	T	0.80513	-0.1349	10	0.87932	D	0	-29.4727	19.9186	0.97074	0.0:0.0:1.0:0.0	.	23;341	Q9H6R3-2;Q9H6R3	.;ACSS3_HUMAN	N	341;340;23	ENSP00000449535:D341N;ENSP00000261206:D340N;ENSP00000448965:D23N	ENSP00000261206:D340N	D	+	1	0	ACSS3	80069929	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.824000	0.99380	2.716000	0.92895	0.557000	0.71058	GAC		PASS	0.338	ACSS3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000407794.1	NM_024560		43	68	43	68	---	---	---	---
RASSF9	9182	broad.mit.edu	37	12	86199727	86199727	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2766-01A-01D-1522-08	TCGA-66-2766-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	452b75d0-1818-46aa-8804-9cfc0bd66449	81a4d615-e95e-4c17-87f7-c06d8dd4975a	g.chr12:86199727C>A	ENST00000361228.3	-	2	429	c.61G>T	c.(61-63)Gac>Tac	p.D21Y		NM_005447.3	NP_005438.2	O75901	RASF9_HUMAN	Ras association (RalGDS/AF-6) domain family (N-terminal) member 9	21					endosomal transport (GO:0016197)|protein targeting (GO:0006605)|signal transduction (GO:0007165)	cytosol (GO:0005829)|endosome (GO:0005768)|trans-Golgi network transport vesicle membrane (GO:0012510)	transporter activity (GO:0005215)	p.D21Y(2)		endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						GAATCCATGTCTTTAGTTGGA	0.393																																						uc001taf.1																			2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(61-63)GAC>TAC		Ras association (RalGDS/AF-6) domain family							86.0	83.0	84.0					12																	86199727		1866	4114	5980	SO:0001583	missense	9182				endosome transport|protein targeting|signal transduction	cytosol|endosome|trans-Golgi network transport vesicle membrane	protein binding|transporter activity	g.chr12:86199727C>A		CCDS44950.1	12q21.31	2008-02-22	2008-02-22	2008-02-22		ENSG00000198774			15739	protein-coding gene	gene with protein product		610383	"""peptidylglycine alpha-amidating monooxygenase COOH-terminal interactor"""	PAMCI		9837933, 18272789	Standard	NM_005447		Approved	P-CIP1	uc001taf.1	O75901	OTTHUMG00000169831	ENST00000361228.3:c.61G>T	12.37:g.86199727C>A	ENSP00000354884:p.Asp21Tyr						p.D21Y	NM_005447	NP_005438	O75901	RASF9_HUMAN			2	400	-			21					B3KMQ4|Q8N5U8	Missense_Mutation	SNP	ENST00000361228.3	37	c.61G>T	CCDS44950.1	.	.	.	.	.	.	.	.	.	.	C	19.84	3.901470	0.72754	.	.	ENSG00000198774	ENST00000361228	T	0.46451	0.87	4.87	4.87	0.63330	.	0.488693	0.20405	U	0.092971	T	0.57873	0.2083	M	0.62723	1.935	0.58432	D	0.999993	D	0.69078	0.997	P	0.56042	0.79	T	0.62746	-0.6789	10	0.72032	D	0.01	-4.6304	18.3746	0.90431	0.0:1.0:0.0:0.0	.	21	O75901	RASF9_HUMAN	Y	21	ENSP00000354884:D21Y	ENSP00000354884:D21Y	D	-	1	0	RASSF9	84723858	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	2.305000	0.43664	2.423000	0.82170	0.551000	0.68910	GAC		PASS	0.393	RASSF9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406109.1			67	21	67	21	---	---	---	---
MGAT4C	25834	broad.mit.edu	37	12	86373487	86373487	+	Missense_Mutation	SNP	A	A	T			TCGA-66-2766-01A-01D-1522-08	TCGA-66-2766-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	452b75d0-1818-46aa-8804-9cfc0bd66449	81a4d615-e95e-4c17-87f7-c06d8dd4975a	g.chr12:86373487A>T	ENST00000604798.1	-	8	2221	c.1017T>A	c.(1015-1017)gaT>gaA	p.D339E	MGAT4C_ENST00000552808.2_Missense_Mutation_p.D339E|MGAT4C_ENST00000548651.1_Missense_Mutation_p.D339E|MGAT4C_ENST00000549405.2_Missense_Mutation_p.D339E|MGAT4C_ENST00000393205.2_Missense_Mutation_p.D368E|MGAT4C_ENST00000332156.1_Missense_Mutation_p.D339E			Q9UBM8	MGT4C_HUMAN	MGAT4 family, member C	339					cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	alpha-1,3-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity (GO:0008454)|metal ion binding (GO:0046872)	p.D339E(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(17)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	41						CAGGGGGGTTATCAGGAATGT	0.413																																						uc001tai.3																			1	Substitution - Missense(1)		lung(1)	ovary(3)	3						c.(1015-1017)GAT>GAA		alpha-1,3-mannosyl-glycoprotein							74.0	71.0	72.0					12																	86373487		2203	4300	6503	SO:0001583	missense	25834				post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-1,3-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity|metal ion binding	g.chr12:86373487A>T		CCDS9030.1	12q21	2014-07-14	2014-07-14		ENSG00000182050	ENSG00000182050		"""Mannosyl-glycoprotein beta N-acetylglucosaminyltransferases"""	30871	protein-coding gene	gene with protein product		607385	"""mannosyl (alpha-1,3-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase, isozyme C (putative)"""			10570912	Standard	NM_013244		Approved	HGNT-IV-H	uc001tal.4	Q9UBM8	OTTHUMG00000169846	ENST00000604798.1:c.1017T>A	12.37:g.86373487A>T	ENSP00000474896:p.Asp339Glu					MGAT4C_uc001tal.3_Missense_Mutation_p.D339E|MGAT4C_uc001taj.3_Missense_Mutation_p.D339E|MGAT4C_uc001tak.3_Missense_Mutation_p.D339E|MGAT4C_uc010sum.1_Missense_Mutation_p.D363E|MGAT4C_uc001tah.3_Missense_Mutation_p.D339E	p.D339E	NM_013244	NP_037376	Q9UBM8	MGT4C_HUMAN			8	2267	-			339			Lumenal (Potential).		B4DRH2|Q4G199|Q9UIU5	Missense_Mutation	SNP	ENST00000604798.1	37	c.1017T>A	CCDS9030.1	.	.	.	.	.	.	.	.	.	.	A	12.71	2.019789	0.35606	.	.	ENSG00000182050	ENST00000332156;ENST00000393205;ENST00000549405;ENST00000550460;ENST00000552808;ENST00000548651;ENST00000547225	T;T;T;T;T;T	0.45276	1.49;1.46;1.49;1.49;1.49;0.9	6.06	-0.727	0.11166	.	0.000000	0.85682	D	0.000000	T	0.54854	0.1884	M	0.82517	2.595	0.38129	D	0.938109	D;D	0.65815	0.995;0.983	P;P	0.57101	0.813;0.746	T	0.60742	-0.7203	10	0.25751	T	0.34	-12.4273	12.0372	0.53431	0.5944:0.0:0.4056:0.0	.	368;339	B4DRH2;Q9UBM8	.;MGT4C_HUMAN	E	339;368;339;339;339;339;339	ENSP00000331664:D339E;ENSP00000376900:D368E;ENSP00000449022:D339E;ENSP00000446647:D339E;ENSP00000447253:D339E;ENSP00000449172:D339E	ENSP00000331664:D339E	D	-	3	2	MGAT4C	84897618	1.000000	0.71417	0.997000	0.53966	0.008000	0.06430	1.609000	0.36858	-0.036000	0.13669	-0.290000	0.09829	GAT		PASS	0.413	MGAT4C-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406212.2	NM_013244		83	30	83	30	---	---	---	---
EEA1	8411	broad.mit.edu	37	12	93258714	93258714	+	Missense_Mutation	SNP	A	A	C			TCGA-66-2766-01A-01D-1522-08	TCGA-66-2766-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	452b75d0-1818-46aa-8804-9cfc0bd66449	81a4d615-e95e-4c17-87f7-c06d8dd4975a	g.chr12:93258714A>C	ENST00000322349.8	-	3	431	c.167T>G	c.(166-168)cTt>cGt	p.L56R	EEA1_ENST00000547833.1_5'UTR	NM_003566.3	NP_003557	Q15075	EEA1_HUMAN	early endosome antigen 1	56					early endosome to late endosome transport (GO:0045022)|endocytosis (GO:0006897)|synaptic vesicle to endosome fusion (GO:0016189)|vesicle fusion (GO:0006906)	axonal spine (GO:0044308)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|early endosome (GO:0005769)|extracellular vesicular exosome (GO:0070062)|extrinsic component of plasma membrane (GO:0019897)|membrane (GO:0016020)|recycling endosome (GO:0055037)|serine-pyruvate aminotransferase complex (GO:0005969)	1-phosphatidylinositol binding (GO:0005545)|calmodulin binding (GO:0005516)|GTP-dependent protein binding (GO:0030742)|protein homodimerization activity (GO:0042803)|zinc ion binding (GO:0008270)	p.L56R(1)		endometrium(5)|kidney(5)|large_intestine(11)|lung(7)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	36						ATGTTTGAAAAGTTCATCAGC	0.363																																						uc001tck.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(1)	3						c.(166-168)CTT>CGT		early endosome antigen 1, 162kD							96.0	89.0	92.0					12																	93258714		2203	4300	6503	SO:0001583	missense	8411				early endosome to late endosome transport|synaptic vesicle to endosome fusion|vesicle fusion	cytosol|early endosome membrane|extrinsic to plasma membrane|membrane fraction	1-phosphatidylinositol binding|calmodulin binding|GTP-dependent protein binding|protein homodimerization activity|zinc ion binding	g.chr12:93258714A>C	L40157	CCDS31874.1	12q22	2007-02-23	2007-02-23			ENSG00000102189		"""Zinc fingers, FYVE domain containing"""	3185	protein-coding gene	gene with protein product		605070	"""early endosome antigen 1, 162kD"""			7768953, 9697774	Standard	NM_003566		Approved	ZFYVE2	uc001tck.3	Q15075	OTTHUMG00000170110	ENST00000322349.8:c.167T>G	12.37:g.93258714A>C	ENSP00000317955:p.Leu56Arg						p.L56R	NM_003566	NP_003557	Q15075	EEA1_HUMAN			3	432	-			56			C2H2-type.		Q14221	Missense_Mutation	SNP	ENST00000322349.8	37	c.167T>G	CCDS31874.1	.	.	.	.	.	.	.	.	.	.	A	24.4	4.522119	0.85600	.	.	ENSG00000102189	ENST00000322349;ENST00000540777	D	0.88509	-2.39	5.53	5.53	0.82687	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);	0.000000	0.47455	D	0.000222	D	0.95063	0.8401	M	0.86502	2.82	0.80722	D	1	D	0.76494	0.999	D	0.83275	0.996	D	0.95814	0.8844	10	0.87932	D	0	.	15.6516	0.77099	1.0:0.0:0.0:0.0	.	56	Q15075	EEA1_HUMAN	R	56;55	ENSP00000317955:L56R	ENSP00000317955:L56R	L	-	2	0	EEA1	91782845	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	8.132000	0.89603	2.100000	0.63781	0.528000	0.53228	CTT		PASS	0.363	EEA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407304.1	NM_003566		4	115	4	115	---	---	---	---
APAF1	317	broad.mit.edu	37	12	99056574	99056574	+	Missense_Mutation	SNP	A	A	T			TCGA-66-2766-01A-01D-1522-08	TCGA-66-2766-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	452b75d0-1818-46aa-8804-9cfc0bd66449	81a4d615-e95e-4c17-87f7-c06d8dd4975a	g.chr12:99056574A>T	ENST00000551964.1	+	7	1681	c.945A>T	c.(943-945)aaA>aaT	p.K315N	APAF1_ENST00000357310.1_Missense_Mutation_p.K315N|APAF1_ENST00000552268.1_Missense_Mutation_p.K315N|APAF1_ENST00000550527.1_Missense_Mutation_p.K304N|APAF1_ENST00000333991.1_Missense_Mutation_p.K315N|APAF1_ENST00000339433.3_Missense_Mutation_p.K315N|APAF1_ENST00000549007.1_Missense_Mutation_p.K315N|APAF1_ENST00000547045.1_Missense_Mutation_p.K315N|APAF1_ENST00000359972.2_Missense_Mutation_p.K304N	NM_181861.1	NP_863651.1	O14727	APAF_HUMAN	apoptotic peptidase activating factor 1	315	NB-ARC.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of cysteine-type endopeptidase activity involved in apoptotic process by cytochrome c (GO:0008635)|apoptotic process (GO:0006915)|forebrain development (GO:0030900)|intrinsic apoptotic signaling pathway (GO:0097193)|nervous system development (GO:0007399)|neural tube closure (GO:0001843)|neuron apoptotic process (GO:0051402)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|regulation of apoptotic DNA fragmentation (GO:1902510)|regulation of apoptotic process (GO:0042981)|response to G1 DNA damage checkpoint signaling (GO:0072432)	apoptosome (GO:0043293)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	ADP binding (GO:0043531)|ATP binding (GO:0005524)|cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)|nucleotide binding (GO:0000166)	p.K315N(1)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(13)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(1)	42					Adenosine triphosphate(DB00171)	GTATTATAAAAGAATGTAAAG	0.299																																						uc001tfz.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|lung(1)	3						c.(943-945)AAA>AAT		apoptotic peptidase activating factor 1 isoform	Adenosine triphosphate(DB00171)						38.0	42.0	41.0					12																	99056574		2199	4296	6495	SO:0001583	missense	317				activation of caspase activity by cytochrome c|defense response|induction of apoptosis by intracellular signals|nervous system development	cytosol|Golgi apparatus|nucleus	ATP binding|caspase activator activity|protein binding	g.chr12:99056574A>T	AF013263	CCDS9069.1, CCDS9070.1, CCDS9071.1, CCDS55862.1, CCDS55863.1	12q23	2013-01-10	2006-10-23			ENSG00000120868		"""WD repeat domain containing"""	576	protein-coding gene	gene with protein product		602233	"""apoptotic protease activating factor"", ""apoptotic peptidase activating factor"""			9267021, 10702682	Standard	NM_181861		Approved	CED4, APAF-1	uc001tfz.3	O14727	OTTHUMG00000170214	ENST00000551964.1:c.945A>T	12.37:g.99056574A>T	ENSP00000448165:p.Lys315Asn					APAF1_uc001tfy.2_Missense_Mutation_p.K304N|APAF1_uc001tga.2_Missense_Mutation_p.K304N|APAF1_uc001tgb.2_Missense_Mutation_p.K315N|APAF1_uc001tgc.2_Missense_Mutation_p.K315N	p.K315N	NM_181861	NP_863651	O14727	APAF_HUMAN			7	1522	+			315			NB-ARC.		B2RMX8|O43297|Q7Z438|Q9BXZ6|Q9UBZ5|Q9UGN8|Q9UGN9|Q9UGP0|Q9UJ58|Q9UJ59|Q9UJ60|Q9UJ61|Q9UJ62|Q9UJ63|Q9UJ64|Q9UJ65|Q9UJ66|Q9UJ67|Q9UNC9	Missense_Mutation	SNP	ENST00000551964.1	37	c.945A>T	CCDS9069.1	.	.	.	.	.	.	.	.	.	.	A	15.47	2.844237	0.51164	.	.	ENSG00000120868	ENST00000551964;ENST00000359972;ENST00000357310;ENST00000339433;ENST00000333991;ENST00000552268;ENST00000550527;ENST00000547045;ENST00000549007	D;D;D;D;D;D;D;D;D	0.82255	-1.59;-1.59;-1.59;-1.59;-1.59;-1.59;-1.59;-1.59;-1.59	5.41	3.09	0.35607	NB-ARC (1);	0.325100	0.41097	D	0.000945	T	0.78071	0.4226	L	0.45470	1.425	0.39708	D	0.971299	B;P;B;B;B	0.38223	0.016;0.623;0.016;0.225;0.41	B;B;B;B;B	0.42188	0.029;0.379;0.018;0.195;0.094	T	0.74802	-0.3541	10	0.37606	T	0.19	-21.3807	8.6306	0.33917	0.7846:0.0:0.2154:0.0	.	315;315;304;315;304	O14727-6;O14727-4;O14727-3;O14727;O14727-2	.;.;.;APAF_HUMAN;.	N	315;304;315;315;315;315;304;315;315	ENSP00000448165:K315N;ENSP00000353059:K304N;ENSP00000349862:K315N;ENSP00000341830:K315N;ENSP00000334558:K315N;ENSP00000448826:K315N;ENSP00000448449:K304N;ENSP00000449791:K315N;ENSP00000448161:K315N	ENSP00000334558:K315N	K	+	3	2	APAF1	97580705	0.999000	0.42202	1.000000	0.80357	0.975000	0.68041	0.898000	0.28404	0.911000	0.36747	0.379000	0.24179	AAA		PASS	0.299	APAF1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000408006.1	NM_181861.1		49	16	49	16	---	---	---	---
CHST11	50515	broad.mit.edu	37	12	105150991	105150991	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2766-01A-01D-1522-08	TCGA-66-2766-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	452b75d0-1818-46aa-8804-9cfc0bd66449	81a4d615-e95e-4c17-87f7-c06d8dd4975a	g.chr12:105150991G>T	ENST00000303694.5	+	3	908	c.469G>T	c.(469-471)Gtc>Ttc	p.V157F	CHST11_ENST00000549260.1_Missense_Mutation_p.V152F	NM_018413.5	NP_060883.1	Q9NPF2	CHSTB_HUMAN	carbohydrate (chondroitin 4) sulfotransferase 11	157					carbohydrate biosynthetic process (GO:0016051)|carbohydrate metabolic process (GO:0005975)|chondrocyte development (GO:0002063)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate metabolic process (GO:0030204)|developmental growth (GO:0048589)|embryonic digit morphogenesis (GO:0042733)|embryonic viscerocranium morphogenesis (GO:0048703)|glycosaminoglycan metabolic process (GO:0030203)|negative regulation of apoptotic process (GO:0043066)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|polysaccharide localization (GO:0033037)|post-anal tail morphogenesis (GO:0036342)|post-embryonic development (GO:0009791)|regulation of cell proliferation (GO:0042127)|respiratory gaseous exchange (GO:0007585)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	chondroitin 4-sulfotransferase activity (GO:0047756)|N-acetylgalactosamine 4-O-sulfotransferase activity (GO:0001537)|N-acetylgalactosamine 4-sulfate 6-O-sulfotransferase activity (GO:0050659)	p.V157F(1)		breast(2)|endometrium(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|skin(1)	18						CGAGGCACACGTCTCCGCCAA	0.592																																						uc001tkx.1																			1	Substitution - Missense(1)		lung(1)		0						c.(469-471)GTC>TTC		carbohydrate sulfotransferase 11							72.0	70.0	70.0					12																	105150991		2203	4300	6503	SO:0001583	missense	50515				chondroitin sulfate biosynthetic process	Golgi membrane|integral to membrane	chondroitin 4-sulfotransferase activity|N-acetylgalactosamine 4-O-sulfotransferase activity	g.chr12:105150991G>T	AB042326	CCDS9099.1, CCDS55878.1	12q23.3	2008-02-05				ENSG00000171310	2.8.2.5	"""Sulfotransferases, membrane-bound"""	17422	protein-coding gene	gene with protein product		610128				10781601	Standard	NM_018413		Approved	C4ST1, C4St-1, C4ST, HSA269537	uc001tkz.3	Q9NPF2	OTTHUMG00000169803	ENST00000303694.5:c.469G>T	12.37:g.105150991G>T	ENSP00000305725:p.Val157Phe					CHST11_uc001tky.2_Missense_Mutation_p.V152F|uc001tkz.2_5'Flank	p.V157F	NM_018413	NP_060883	Q9NPF2	CHSTB_HUMAN			4	760	+			157			Lumenal (Potential).		A8K4F8|Q9NXY6|Q9NY36	Missense_Mutation	SNP	ENST00000303694.5	37	c.469G>T	CCDS9099.1	.	.	.	.	.	.	.	.	.	.	G	17.72	3.460304	0.63401	.	.	ENSG00000171310	ENST00000549260;ENST00000303694;ENST00000549016	T;T;T	0.73047	-0.71;-0.71;-0.71	5.42	3.58	0.41010	.	0.112301	0.64402	D	0.000012	T	0.68274	0.2983	L	0.29908	0.895	0.80722	D	1	D;P	0.56968	0.978;0.931	P;P	0.54856	0.736;0.762	T	0.69975	-0.4999	10	0.54805	T	0.06	-11.4582	11.1759	0.48598	0.1476:0.0:0.8524:0.0	.	152;157	Q9NPF2-2;Q9NPF2	.;CHSTB_HUMAN	F	152;157;117	ENSP00000450004:V152F;ENSP00000305725:V157F;ENSP00000449095:V117F	ENSP00000305725:V157F	V	+	1	0	CHST11	103675121	1.000000	0.71417	0.979000	0.43373	0.817000	0.46193	3.856000	0.55964	1.297000	0.44761	0.655000	0.94253	GTC		PASS	0.592	CHST11-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000405960.2	NM_018413		58	19	58	19	---	---	---	---
APPL2	55198	broad.mit.edu	37	12	105589265	105589265	+	Missense_Mutation	SNP	T	T	C			TCGA-66-2766-01A-01D-1522-08	TCGA-66-2766-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	452b75d0-1818-46aa-8804-9cfc0bd66449	81a4d615-e95e-4c17-87f7-c06d8dd4975a	g.chr12:105589265T>C	ENST00000258530.3	-	13	1335	c.1110A>G	c.(1108-1110)atA>atG	p.I370M	APPL2_ENST00000539978.2_Missense_Mutation_p.I327M|APPL2_ENST00000551662.1_Missense_Mutation_p.I376M|APPL2_ENST00000549573.1_5'Flank	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.I370M(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						AGATGTTGTTTATTGCACATA	0.433																																						uc001tlf.1																			1	Substitution - Missense(1)		lung(1)	upper_aerodigestive_tract(1)	1						c.(1108-1110)ATA>ATG		adaptor protein, phosphotyrosine interaction, PH							190.0	175.0	180.0					12																	105589265		2203	4300	6503	SO:0001583	missense	55198				cell cycle|cell proliferation|signal transduction	early endosome membrane|nucleus	protein binding	g.chr12:105589265T>C	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.1110A>G	12.37:g.105589265T>C	ENSP00000258530:p.Ile370Met					APPL2_uc010swt.1_Missense_Mutation_p.I327M|APPL2_uc001tlg.1_Missense_Mutation_p.I124M|APPL2_uc010swu.1_Missense_Mutation_p.I376M|APPL2_uc009zuq.2_Missense_Mutation_p.I327M	p.I370M	NM_018171	NP_060641	Q8NEU8	DP13B_HUMAN			13	1328	-			370			Required for RAB5A binding (By similarity).|PH.		B3KXX9|H7BXI4|Q13861|Q14594|Q14662|Q71U10|Q7M4L3|Q9BT36	Missense_Mutation	SNP	ENST00000258530.3	37	c.1110A>G	CCDS9101.1	.	.	.	.	.	.	.	.	.	.	T	17.93	3.508067	0.64410	.	.	ENSG00000136044	ENST00000258530;ENST00000539978;ENST00000551662	D;D;D	0.82081	-1.57;-1.57;-1.57	5.81	-5.31	0.02730	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.094500	0.64402	D	0.000001	D	0.87293	0.6141	M	0.70787	2.145	0.39667	D	0.970696	B;B;B	0.33318	0.356;0.408;0.408	B;P;B	0.50490	0.383;0.642;0.39	T	0.80251	-0.1460	10	0.22109	T	0.4	-16.9063	23.6856	0.99985	0.0:0.0:0.8498:0.1502	.	376;327;370	F8W1P5;B7Z1Q8;Q8NEU8	.;.;DP13B_HUMAN	M	370;327;376	ENSP00000258530:I370M;ENSP00000444472:I327M;ENSP00000446917:I376M	ENSP00000258530:I370M	I	-	3	3	APPL2	104113395	0.806000	0.28996	0.590000	0.28732	0.903000	0.53119	-0.213000	0.09305	-0.419000	0.07439	-1.360000	0.01215	ATA		PASS	0.433	APPL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406238.3	NM_018171		36	106	36	106	---	---	---	---
BRAP	8315	broad.mit.edu	37	12	112082156	112082156	+	Silent	SNP	T	T	A			TCGA-66-2766-01A-01D-1522-08	TCGA-66-2766-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	452b75d0-1818-46aa-8804-9cfc0bd66449	81a4d615-e95e-4c17-87f7-c06d8dd4975a	g.chr12:112082156T>A	ENST00000327551.6	-	12	1676	c.1536A>T	c.(1534-1536)acA>acT	p.T512T	BRAP_ENST00000539060.1_Silent_p.T363T|BRAP_ENST00000419234.4_Silent_p.T542T			Q6UWU4	CF089_HUMAN	BRCA1 associated protein	0					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.T542T(1)		cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(5)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	20						TCTTCTGCTGTGTCTCCAGGT	0.577																																					Pancreas(146;846 1904 7830 25130 26065)	uc001tsn.3																			1	Substitution - coding silent(1)		lung(1)	lung(1)	1						c.(1624-1626)ACA>ACT		BRCA1 associated protein							194.0	153.0	167.0					12																	112082156		2203	4300	6503	SO:0001819	synonymous_variant	8315				MAPKKK cascade|negative regulation of signal transduction|Ras protein signal transduction	cytoplasm|ubiquitin ligase complex	identical protein binding|nuclear localization sequence binding|nucleotide binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr12:112082156T>A	AF035620	CCDS9154.1	12q24.12	2014-09-11			ENSG00000089234	ENSG00000089234		"""RING-type (C3HC4) zinc fingers"""	1099	protein-coding gene	gene with protein product	"""impedes mitogenic signal propagation"", ""galectin-2-binding protein"""	604986				9497340, 19198608	Standard	XM_005253944		Approved	BRAP2, RNF52, IMP	uc001tsn.4	Q7Z569	OTTHUMG00000169600	ENST00000327551.6:c.1536A>T	12.37:g.112082156T>A						BRAP_uc010syh.1_Silent_p.T363T|BRAP_uc009zvv.2_Silent_p.T512T	p.T542T	NM_006768	NP_006759	Q7Z569	BRAP_HUMAN			12	1820	-			542					B4DTT1|F4NAR0|F4NAR1|Q6ZMG5|Q7Z356|Q8IZ35	Silent	SNP	ENST00000327551.6	37	c.1626A>T																																																																																					PASS	0.577	BRAP-002	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000404994.2			97	27	97	27	---	---	---	---
ACADS	35	broad.mit.edu	37	12	121176366	121176366	+	Missense_Mutation	SNP	G	G	C	rs199717731		TCGA-66-2766-01A-01D-1522-08	TCGA-66-2766-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	452b75d0-1818-46aa-8804-9cfc0bd66449	81a4d615-e95e-4c17-87f7-c06d8dd4975a	g.chr12:121176366G>C	ENST00000242592.4	+	7	977	c.826G>C	c.(826-828)Gcc>Ccc	p.A276P	RP11-173P15.7_ENST00000542620.1_RNA|ACADS_ENST00000411593.2_Missense_Mutation_p.A272P	NM_000017.2	NP_000008.1	P16219	ACADS_HUMAN	acyl-CoA dehydrogenase, C-2 to C-3 short chain	276					butyrate catabolic process (GO:0046359)|cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation (GO:0006635)|fatty acid beta-oxidation using acyl-CoA dehydrogenase (GO:0033539)|protein homotetramerization (GO:0051289)|response to glucocorticoid (GO:0051384)|response to starvation (GO:0042594)|small molecule metabolic process (GO:0044281)	mitochondrial matrix (GO:0005759)|mitochondrial membrane (GO:0031966)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	acyl-CoA dehydrogenase activity (GO:0003995)|butyryl-CoA dehydrogenase activity (GO:0004085)|fatty-acyl-CoA binding (GO:0000062)|flavin adenine dinucleotide binding (GO:0050660)	p.A276P(1)		central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(3)	14	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)	Lung NSC(355;0.163)			Flavin adenine dinucleotide(DB03147)	CATCGGCATCGCCTCCCAGGC	0.697																																						uc001tza.3																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(2)	2	GRCh37	CM085210	ACADS	M		c.(826-828)GCC>CCC		short-chain acyl-CoA dehydrogenase precursor	NADH(DB00157)						51.0	54.0	53.0					12																	121176366		2203	4300	6503	SO:0001583	missense	35					mitochondrial matrix	butyryl-CoA dehydrogenase activity	g.chr12:121176366G>C	M26393	CCDS9207.1	12q24.31	2012-07-13	2010-04-30		ENSG00000122971	ENSG00000122971	1.3.8.1		90	protein-coding gene	gene with protein product		606885	"""acyl-Coenzyme A dehydrogenase, C-2 to C-3 short chain"""			2565344	Standard	NM_000017		Approved	SCAD, ACAD3	uc001tza.4	P16219	OTTHUMG00000169203	ENST00000242592.4:c.826G>C	12.37:g.121176366G>C	ENSP00000242592:p.Ala276Pro					ACADS_uc010szl.1_Missense_Mutation_p.A272P|ACADS_uc001tzb.3_Intron	p.A276P	NM_000017	NP_000008	P16219	ACADS_HUMAN			7	944	+	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)	Lung NSC(355;0.163)	276					P78331	Missense_Mutation	SNP	ENST00000242592.4	37	c.826G>C	CCDS9207.1	.	.	.	.	.	.	.	.	.	.	G	28.1	4.893580	0.91889	.	.	ENSG00000122971	ENST00000242592;ENST00000411593	D;D	0.97906	-4.6;-4.6	4.96	4.03	0.46877	Acyl-CoA dehydrogenase/oxidase C-terminal (2);Acyl-CoA oxidase/dehydrogenase, type 1 (1);	0.051307	0.85682	D	0.000000	D	0.98963	0.9647	M	0.93594	3.435	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	D	0.99441	1.0938	10	0.87932	D	0	.	14.2236	0.65843	0.0:0.0:0.8494:0.1506	.	272;276	E9PE82;P16219	.;ACADS_HUMAN	P	276;272	ENSP00000242592:A276P;ENSP00000401045:A272P	ENSP00000242592:A276P	A	+	1	0	ACADS	119660749	1.000000	0.71417	0.989000	0.46669	0.935000	0.57460	9.465000	0.97660	1.025000	0.39708	0.561000	0.74099	GCC		PASS	0.697	ACADS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402861.1	NM_000017		54	18	54	18	---	---	---	---
OGFOD2	79676	broad.mit.edu	37	12	123463026	123463026	+	Silent	SNP	G	G	T	rs375496902		TCGA-66-2766-01A-01D-1522-08	TCGA-66-2766-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	452b75d0-1818-46aa-8804-9cfc0bd66449	81a4d615-e95e-4c17-87f7-c06d8dd4975a	g.chr12:123463026G>T	ENST00000228922.7	+	5	473	c.441G>T	c.(439-441)gcG>gcT	p.A147A	OGFOD2_ENST00000536150.1_5'UTR|ARL6IP4_ENST00000454885.2_5'Flank|OGFOD2_ENST00000454694.2_5'UTR|ARL6IP4_ENST00000392435.2_5'Flank|OGFOD2_ENST00000542117.1_3'UTR|ARL6IP4_ENST00000453766.2_5'Flank|ABCB9_ENST00000542678.1_Intron|ARL6IP4_ENST00000412505.2_5'Flank|ARL6IP4_ENST00000439686.2_5'Flank|ARL6IP4_ENST00000357866.4_5'Flank|OGFOD2_ENST00000545317.1_5'UTR|ARL6IP4_ENST00000426960.2_5'Flank|ARL6IP4_ENST00000543566.1_5'Flank|OGFOD2_ENST00000545612.1_5'UTR|OGFOD2_ENST00000538755.1_5'UTR|OGFOD2_ENST00000397389.2_Silent_p.A87A|ARL6IP4_ENST00000315580.5_5'Flank|OGFOD2_ENST00000538628.1_5'UTR|RP11-197N18.2_ENST00000540866.2_RNA			Q6N063	OGFD2_HUMAN	2-oxoglutarate and iron-dependent oxygenase domain containing 2	147							iron ion binding (GO:0005506)|L-ascorbic acid binding (GO:0031418)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors (GO:0016706)	p.A87A(1)		breast(1)|endometrium(2)|lung(4)|pancreas(1)	8	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;6.11e-05)|Epithelial(86;0.000127)|BRCA - Breast invasive adenocarcinoma(302;0.107)	Vitamin C(DB00126)	TTTTCACAGCGCCCTTCTGCC	0.622																																						uc001uea.1																			1	Substitution - coding silent(1)		lung(1)	pancreas(1)	1						c.(439-441)GCG>GCT		2-oxoglutarate and iron-dependent oxygenase	Vitamin C(DB00126)						57.0	61.0	60.0					12																	123463026		2023	4186	6209	SO:0001819	synonymous_variant	79676						iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	g.chr12:123463026G>T	AK094820	CCDS41855.1	12q24.31	2010-11-23			ENSG00000111325	ENSG00000111325			25823	protein-coding gene	gene with protein product						12477932	Standard	NM_024623		Approved	FLJ13491, FLJ37501	uc001udz.1	Q6N063		ENST00000228922.7:c.441G>T	12.37:g.123463026G>T						OGFOD2_uc001uds.1_5'UTR|OGFOD2_uc001udt.1_5'UTR|OGFOD2_uc001udu.1_5'UTR|OGFOD2_uc001udv.1_5'UTR|OGFOD2_uc009zxs.1_5'UTR|OGFOD2_uc001udw.1_5'UTR|OGFOD2_uc001udx.1_5'UTR|OGFOD2_uc001udy.1_5'UTR|OGFOD2_uc001udz.1_Silent_p.A87A|OGFOD2_uc010tak.1_3'UTR|OGFOD2_uc001ueb.1_5'UTR|ARL6IP4_uc001uec.2_5'Flank|ARL6IP4_uc001ued.2_5'Flank|ARL6IP4_uc001uee.2_5'Flank|ARL6IP4_uc001uef.2_5'Flank|ARL6IP4_uc001ueg.2_5'Flank|ARL6IP4_uc009zxt.2_5'Flank|ARL6IP4_uc001ueh.2_5'Flank|ARL6IP4_uc001uei.2_5'Flank	p.A147A	NM_024623	NP_078899	Q6N063	OGFD2_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;6.11e-05)|Epithelial(86;0.000127)|BRCA - Breast invasive adenocarcinoma(302;0.107)	5	462	+	all_neural(191;0.0837)|Medulloblastoma(191;0.163)		147					B3KT24|Q4KN13|Q6N023|Q9H8K6	Silent	SNP	ENST00000228922.7	37	c.441G>T																																																																																					PASS	0.622	OGFOD2-006	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000400984.1	NM_024623		74	16	74	16	---	---	---	---
CDK8	1024	broad.mit.edu	37	13	26956958	26956958	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2766-01A-01D-1522-08	TCGA-66-2766-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	452b75d0-1818-46aa-8804-9cfc0bd66449	81a4d615-e95e-4c17-87f7-c06d8dd4975a	g.chr13:26956958C>T	ENST00000381527.3	+	5	967	c.464C>T	c.(463-465)gCt>gTt	p.A155V	CDK8_ENST00000536792.1_Intron	NM_001260.1	NP_001251.1	P49336	CDK8_HUMAN	cyclin-dependent kinase 8	155	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				gene expression (GO:0010467)|Notch signaling pathway (GO:0007219)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	mediator complex (GO:0016592)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|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.A155V(1)		breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|urinary_tract(1)	25	Colorectal(5;0.000442)	Lung SC(185;0.0156)|Breast(139;0.147)		all cancers(112;0.0384)|Epithelial(112;0.142)|OV - Ovarian serous cystadenocarcinoma(117;0.188)		CAGAAACCTGCTAATATTTTA	0.313																																						uc001uqr.1																			1	Substitution - Missense(1)		lung(1)	lung(2)|large_intestine(1)|ovary(1)|skin(1)	5						c.(463-465)GCT>GTT		cyclin-dependent kinase 8							96.0	99.0	98.0					13																	26956958		2203	4300	6503	SO:0001583	missense	1024				regulation of transcription, DNA-dependent|transcription, DNA-dependent	mediator complex	ATP binding|cyclin-dependent protein kinase activity|protein binding|RNA polymerase II carboxy-terminal domain kinase activity	g.chr13:26956958C>T	X85753	CCDS9317.1	13q12	2011-11-08			ENSG00000132964	ENSG00000132964		"""Cyclin-dependent kinases"""	1779	protein-coding gene	gene with protein product		603184				7568034	Standard	NM_001260		Approved	K35	uc001uqr.1	P49336	OTTHUMG00000016617	ENST00000381527.3:c.464C>T	13.37:g.26956958C>T	ENSP00000370938:p.Ala155Val					CDK8_uc001uqs.1_Missense_Mutation_p.A155V|CDK8_uc001uqt.1_Intron	p.A155V	NM_001260	NP_001251	P49336	CDK8_HUMAN		all cancers(112;0.0384)|Epithelial(112;0.142)|OV - Ovarian serous cystadenocarcinoma(117;0.188)	5	490	+	Colorectal(5;0.000442)	Lung SC(185;0.0156)|Breast(139;0.147)	155			Protein kinase.		Q5VUF3|Q6ISB5	Missense_Mutation	SNP	ENST00000381527.3	37	c.464C>T	CCDS9317.1	.	.	.	.	.	.	.	.	.	.	C	33	5.258508	0.95368	.	.	ENSG00000132964	ENST00000381527	T	0.48201	0.82	5.87	5.87	0.94306	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.045294	0.85682	D	0.000000	T	0.70718	0.3256	M	0.70108	2.13	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.997;0.999	T	0.70586	-0.4831	10	0.72032	D	0.01	-13.0246	20.5827	0.99408	0.0:1.0:0.0:0.0	.	155;155	P49336-2;P49336	.;CDK8_HUMAN	V	155	ENSP00000370938:A155V	ENSP00000370938:A155V	A	+	2	0	CDK8	25854958	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.228000	0.78079	2.941000	0.99782	0.655000	0.94253	GCT		PASS	0.313	CDK8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044250.1			85	40	85	40	---	---	---	---
MTIF3	219402	broad.mit.edu	37	13	28014513	28014513	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2766-01A-01D-1522-08	TCGA-66-2766-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	452b75d0-1818-46aa-8804-9cfc0bd66449	81a4d615-e95e-4c17-87f7-c06d8dd4975a	g.chr13:28014513C>A	ENST00000381116.1	-	5	307	c.73G>T	c.(73-75)Ggt>Tgt	p.G25C	MTIF3_ENST00000431572.2_Missense_Mutation_p.G25C|MTIF3_ENST00000381120.3_Missense_Mutation_p.G25C|MTIF3_ENST00000461838.1_5'UTR|MTIF3_ENST00000405591.2_Missense_Mutation_p.G25C			Q9H2K0	IF3M_HUMAN	mitochondrial translational initiation factor 3	25					formation of translation initiation complex (GO:0001732)|regulation of translational initiation (GO:0006446)|ribosome disassembly (GO:0032790)	mitochondrion (GO:0005739)	ribosomal small subunit binding (GO:0043024)|translation factor activity, nucleic acid binding (GO:0008135)|translation initiation factor activity (GO:0003743)	p.G25C(1)		endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	7		Lung SC(185;0.0161)	Colorectal(13;0.00042)|READ - Rectum adenocarcinoma(15;0.105)	all cancers(112;0.108)|OV - Ovarian serous cystadenocarcinoma(117;0.157)		ATGTGTTTACCAAAACATCTA	0.403																																						uc001urh.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(73-75)GGT>TGT		mitochondrial translational initiation factor 3							92.0	84.0	87.0					13																	28014513		2203	4300	6503	SO:0001583	missense	219402				regulation of translational initiation|ribosome disassembly	mitochondrion	ribosomal small subunit binding|translation initiation factor activity	g.chr13:28014513C>A	BC046166	CCDS9322.1	13q12.2	2007-05-03			ENSG00000122033	ENSG00000122033			29788	protein-coding gene	gene with protein product						12095986	Standard	NM_152912		Approved	IF-3mt, IF3(mt)	uc001uri.3	Q9H2K0	OTTHUMG00000016633	ENST00000381116.1:c.73G>T	13.37:g.28014513C>A	ENSP00000370508:p.Gly25Cys					MTIF3_uc001uri.2_Missense_Mutation_p.G25C|MTIF3_uc001urj.2_Missense_Mutation_p.G25C|MTIF3_uc001urk.2_Missense_Mutation_p.G25C	p.G25C	NM_152912	NP_690876	Q9H2K0	IF3M_HUMAN	Colorectal(13;0.00042)|READ - Rectum adenocarcinoma(15;0.105)	all cancers(112;0.108)|OV - Ovarian serous cystadenocarcinoma(117;0.157)	1	1297	-		Lung SC(185;0.0161)	25					Q05BL8|Q5W0V0|Q86X68	Missense_Mutation	SNP	ENST00000381116.1	37	c.73G>T	CCDS9322.1	.	.	.	.	.	.	.	.	.	.	C	13.77	2.336464	0.41398	.	.	ENSG00000122033	ENST00000431572;ENST00000405591;ENST00000381116;ENST00000381120	T;T;T;T	0.32023	1.47;1.47;1.47;1.47	5.54	3.07	0.35406	.	0.768581	0.12640	N	0.451402	T	0.48804	0.1520	M	0.68317	2.08	0.09310	N	1	D	0.76494	0.999	D	0.63488	0.915	T	0.31166	-0.9953	10	0.33141	T	0.24	-4.8686	11.6815	0.51461	0.0:0.8006:0.0:0.1994	.	25	Q9H2K0	IF3M_HUMAN	C	25	ENSP00000400084:G25C;ENSP00000384659:G25C;ENSP00000370508:G25C;ENSP00000370512:G25C	ENSP00000370508:G25C	G	-	1	0	MTIF3	26912513	0.000000	0.05858	0.007000	0.13788	0.075000	0.17131	-0.019000	0.12546	1.057000	0.40506	0.655000	0.94253	GGT		PASS	0.403	MTIF3-010	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044300.1	NM_152912		83	20	83	20	---	---	---	---
FLT3	2322	broad.mit.edu	37	13	28588631	28588631	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2766-01A-01D-1522-08	TCGA-66-2766-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	452b75d0-1818-46aa-8804-9cfc0bd66449	81a4d615-e95e-4c17-87f7-c06d8dd4975a	g.chr13:28588631C>A	ENST00000241453.7	-	23	2898	c.2817G>T	c.(2815-2817)ttG>ttT	p.L939F	FLT3_ENST00000469894.1_5'UTR|FLT3_ENST00000380982.4_Missense_Mutation_p.L942F|FLT3_ENST00000537084.1_Missense_Mutation_p.L898F	NM_004119.2	NP_004110.2	P36888	FLT3_HUMAN	fms-related tyrosine kinase 3	939	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				B cell differentiation (GO:0030183)|cellular response to cytokine stimulus (GO:0071345)|common myeloid progenitor cell proliferation (GO:0035726)|cytokine-mediated signaling pathway (GO:0019221)|dendritic cell differentiation (GO:0097028)|hemopoiesis (GO:0030097)|leukocyte homeostasis (GO:0001776)|lymphocyte proliferation (GO:0046651)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of B cell differentiation (GO:0045578)|negative regulation of cell proliferation (GO:0008285)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cell proliferation (GO:0008284)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of tyrosine phosphorylation of STAT protein (GO:0042531)|pro-B cell differentiation (GO:0002328)|pro-T cell differentiation (GO:0002572)|protein autophosphorylation (GO:0046777)|regulation of apoptotic process (GO:0042981)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vascular endothelial growth factor signaling pathway (GO:0038084)	endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|cytokine receptor activity (GO:0004896)|protein homodimerization activity (GO:0042803)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor-activated receptor activity (GO:0005021)	p.L939F(1)		NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(12329)|kidney(2)|large_intestine(8)|lung(30)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	12390	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0156)|Ovarian(182;0.0392)	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	OV - Ovarian serous cystadenocarcinoma(117;0.00154)|all cancers(112;0.00459)|GBM - Glioblastoma multiforme(144;0.00562)|Epithelial(112;0.0959)|Lung(94;0.212)	Ponatinib(DB08901)|Sorafenib(DB00398)|Sunitinib(DB01268)	AAAACGAAGTCAAATTAGGGA	0.393			"""Mis, O"""		"""AML, ALL"""																																	uc001urw.2				Dom	yes		13	13q12	2322	Mis|O	fms-related tyrosine kinase 3			L			AML|ALL		1	Substitution - Missense(1)		lung(1)	haematopoietic_and_lymphoid_tissue(8536)|lung(7)|ovary(3)|stomach(1)|central_nervous_system(1)|skin(1)	8549						c.(2815-2817)TTG>TTT		fms-related tyrosine kinase 3 precursor	Sorafenib(DB00398)|Sunitinib(DB01268)						93.0	87.0	89.0					13																	28588631		2203	4300	6503	SO:0001583	missense	2322				positive regulation of cell proliferation	integral to plasma membrane	ATP binding|vascular endothelial growth factor receptor activity	g.chr13:28588631C>A	U02687	CCDS31953.1	13q12	2014-09-17			ENSG00000122025	ENSG00000122025	2.7.10.1	"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	3765	protein-coding gene	gene with protein product		136351				8394751	Standard	NM_004119		Approved	STK1, FLK2, CD135	uc001urw.3	P36888	OTTHUMG00000016646	ENST00000241453.7:c.2817G>T	13.37:g.28588631C>A	ENSP00000241453:p.Leu939Phe					FLT3_uc010aao.2_RNA|FLT3_uc010tdn.1_Missense_Mutation_p.L898F	p.L939F	NM_004119	NP_004110	P36888	FLT3_HUMAN	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	OV - Ovarian serous cystadenocarcinoma(117;0.00154)|all cancers(112;0.00459)|GBM - Glioblastoma multiforme(144;0.00562)|Epithelial(112;0.0959)|Lung(94;0.212)	23	2899	-	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0156)|Ovarian(182;0.0392)	939			Protein kinase.|Cytoplasmic (Potential).		A0AVG9|B7ZLT7|B7ZLT8|F5H0A0|Q13414	Missense_Mutation	SNP	ENST00000241453.7	37	c.2817G>T	CCDS31953.1	.	.	.	.	.	.	.	.	.	.	C	13.17	2.156408	0.38119	.	.	ENSG00000122025	ENST00000241453;ENST00000380982;ENST00000537084	D;D;D	0.91011	-2.77;-2.77;-2.77	5.79	3.15	0.36227	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.47455	D	0.000225	D	0.94644	0.8273	M	0.88512	2.96	0.52099	D	0.999945	D;D	0.89917	1.0;1.0	D;D	0.81914	0.992;0.995	D	0.92517	0.6021	10	0.72032	D	0.01	.	5.809	0.18456	0.135:0.6521:0.0:0.2129	.	898;939	P36888-2;P36888	.;FLT3_HUMAN	F	939;942;898	ENSP00000241453:L939F;ENSP00000370369:L942F;ENSP00000438139:L898F	ENSP00000241453:L939F	L	-	3	2	FLT3	27486631	0.989000	0.36119	0.801000	0.32222	0.152000	0.21847	0.208000	0.17415	0.367000	0.24454	0.591000	0.81541	TTG		PASS	0.393	FLT3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000044319.2			134	20	134	20	---	---	---	---
FRY	10129	broad.mit.edu	37	13	32813925	32813925	+	Silent	SNP	G	G	A			TCGA-66-2766-01A-01D-1522-08	TCGA-66-2766-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	452b75d0-1818-46aa-8804-9cfc0bd66449	81a4d615-e95e-4c17-87f7-c06d8dd4975a	g.chr13:32813925G>A	ENST00000380250.3	+	46	7090	c.6594G>A	c.(6592-6594)acG>acA	p.T2198T		NM_023037.2	NP_075463.2	Q5TBA9	FRY_HUMAN	furry homolog (Drosophila)	2198						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)		p.T2198T(1)		NS(3)|breast(4)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(31)|lung(50)|ovary(5)|pancreas(1)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	132		Lung SC(185;0.0271)		all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104)		ACAGCTACACGAGGGACTGTG	0.398																																						uc001utx.2																			1	Substitution - coding silent(1)		lung(1)	ovary(5)|large_intestine(1)|skin(1)	7						c.(6592-6594)ACG>ACA		furry homolog							89.0	87.0	88.0					13																	32813925		1931	4141	6072	SO:0001819	synonymous_variant	10129				regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane		g.chr13:32813925G>A	AL049784	CCDS41875.1	13q13.1	2008-02-05	2005-11-24	2005-11-24	ENSG00000073910	ENSG00000073910			20367	protein-coding gene	gene with protein product		614818	"""chromosome 13 open reading frame 14"""	C13orf14		14702039, 8812419	Standard	NM_023037		Approved	bA37E23.1, 13CDNA73, CG003	uc001utx.3	Q5TBA9	OTTHUMG00000016696	ENST00000380250.3:c.6594G>A	13.37:g.32813925G>A						FRY_uc010tdw.1_RNA	p.T2198T	NM_023037	NP_075463	Q5TBA9	FRY_HUMAN		all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104)	46	7090	+		Lung SC(185;0.0271)	2198					Q9Y3N6	Silent	SNP	ENST00000380250.3	37	c.6594G>A	CCDS41875.1																																																																																				PASS	0.398	FRY-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044405.1	NM_023037		58	56	58	56	---	---	---	---
TRPC4	7223	broad.mit.edu	37	13	38237841	38237841	+	Missense_Mutation	SNP	G	G	A			TCGA-66-2766-01A-01D-1522-08	TCGA-66-2766-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	452b75d0-1818-46aa-8804-9cfc0bd66449	81a4d615-e95e-4c17-87f7-c06d8dd4975a	g.chr13:38237841G>A	ENST00000379705.3	-	6	2257	c.1400C>T	c.(1399-1401)tCa>tTa	p.S467L	TRPC4_ENST00000338947.5_Missense_Mutation_p.S294L|TRPC4_ENST00000379681.3_Missense_Mutation_p.S467L|TRPC4_ENST00000379673.2_Missense_Mutation_p.S467L|TRPC4_ENST00000358477.2_Missense_Mutation_p.S467L|TRPC4_ENST00000494529.1_5'UTR|TRPC4_ENST00000426868.2_Intron|TRPC4_ENST00000379679.1_Missense_Mutation_p.S294L|TRPC4_ENST00000447043.1_Missense_Mutation_p.S467L|TRPC4_ENST00000355779.2_Missense_Mutation_p.S467L			Q9UBN4	TRPC4_HUMAN	transient receptor potential cation channel, subfamily C, member 4	467					axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|gamma-aminobutyric acid secretion (GO:0014051)|ion transmembrane transport (GO:0034220)|oligodendrocyte differentiation (GO:0048709)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|calcium channel complex (GO:0034704)|caveola (GO:0005901)|cell surface (GO:0009986)|cortical cytoskeleton (GO:0030863)|plasma membrane (GO:0005886)	beta-catenin binding (GO:0008013)|cadherin binding (GO:0045296)|inositol 1,4,5 trisphosphate binding (GO:0070679)|store-operated calcium channel activity (GO:0015279)	p.S467L(2)		NS(2)|breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(26)|lung(30)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2)	83				all cancers(112;1.92e-08)|Epithelial(112;5.04e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000677)|GBM - Glioblastoma multiforme(144;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0126)		CATGTCCCATGATTCTCGTGG	0.423																																						uc001uws.2																			2	Substitution - Missense(2)		lung(2)	ovary(3)|skin(2)|breast(1)	6						c.(1399-1401)TCA>TTA		transient receptor potential cation channel,							43.0	43.0	43.0					13																	38237841		2203	4300	6503	SO:0001583	missense	7223				axon guidance|calcium ion import	basolateral plasma membrane|calcium channel complex|cell surface|cortical cytoskeleton	beta-catenin binding|cadherin binding|store-operated calcium channel activity	g.chr13:38237841G>A	U40983	CCDS9365.1, CCDS45035.1, CCDS45036.1, CCDS45038.1, CCDS45039.1	13q13.3	2013-01-10			ENSG00000133107	ENSG00000133107		"""Voltage-gated ion channels / Transient receptor potential cation channels"", ""Ankyrin repeat domain containing"""	12336	protein-coding gene	gene with protein product		603651				8646775, 16382100	Standard	NM_016179		Approved	HTRP4, TRP4	uc010abx.3	Q9UBN4	OTTHUMG00000016752	ENST00000379705.3:c.1400C>T	13.37:g.38237841G>A	ENSP00000369027:p.Ser467Leu					TRPC4_uc010abv.2_Missense_Mutation_p.S47L|TRPC4_uc001uwt.2_Missense_Mutation_p.S467L|TRPC4_uc010tey.1_Missense_Mutation_p.S467L|TRPC4_uc010abw.2_Missense_Mutation_p.S294L|TRPC4_uc010abx.2_Missense_Mutation_p.S467L|TRPC4_uc010aby.2_Missense_Mutation_p.S467L	p.S467L	NM_016179	NP_057263	Q9UBN4	TRPC4_HUMAN		all cancers(112;1.92e-08)|Epithelial(112;5.04e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000677)|GBM - Glioblastoma multiforme(144;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0126)	6	1635	-			467			Extracellular (Potential).		B1ALE0|B1ALE1|B1ALE2|Q15721|Q3SWS6|Q96P03|Q96P04|Q96P05|Q9UIB0|Q9UIB1|Q9UIB2	Missense_Mutation	SNP	ENST00000379705.3	37	c.1400C>T	CCDS9365.1	.	.	.	.	.	.	.	.	.	.	G	14.00	2.405878	0.42715	.	.	ENSG00000133107	ENST00000379705;ENST00000379681;ENST00000338947;ENST00000379679;ENST00000355779;ENST00000358477;ENST00000379673;ENST00000447043	T;T;T;T;T;T;T;T	0.70516	-0.21;-0.21;-0.01;-0.01;0.25;-0.19;-0.49;0.25	5.45	4.55	0.56014	Ion transport (1);	0.671651	0.16287	N	0.221062	T	0.52645	0.1747	N	0.12182	0.205	0.19575	N	0.999968	B;B;B;B;B;B	0.26147	0.053;0.143;0.034;0.132;0.071;0.087	B;B;B;B;B;B	0.29440	0.062;0.062;0.025;0.098;0.062;0.102	T	0.48031	-0.9070	10	0.62326	D	0.03	-11.8501	8.9999	0.36074	0.0:0.2072:0.6524:0.1405	.	467;467;467;294;467;467	Q9UBN4-3;Q9UBN4-4;Q9UBN4-5;Q9UBN4-6;Q9UBN4-2;Q9UBN4	.;.;.;.;.;TRPC4_HUMAN	L	467;467;294;294;467;467;467;467	ENSP00000369027:S467L;ENSP00000369003:S467L;ENSP00000342580:S294L;ENSP00000369001:S294L;ENSP00000348025:S467L;ENSP00000351264:S467L;ENSP00000368995:S467L;ENSP00000414316:S467L	ENSP00000342580:S294L	S	-	2	0	TRPC4	37135841	0.000000	0.05858	0.954000	0.39281	0.956000	0.61745	0.946000	0.29069	2.706000	0.92434	0.655000	0.94253	TCA		PASS	0.423	TRPC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044574.2	NM_003306		71	5	71	5	---	---	---	---
FREM2	341640	broad.mit.edu	37	13	39262581	39262581	+	Missense_Mutation	SNP	A	A	G			TCGA-66-2766-01A-01D-1522-08	TCGA-66-2766-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	452b75d0-1818-46aa-8804-9cfc0bd66449	81a4d615-e95e-4c17-87f7-c06d8dd4975a	g.chr13:39262581A>G	ENST00000280481.7	+	1	1316	c.1100A>G	c.(1099-1101)cAg>cGg	p.Q367R		NM_207361.4	NP_997244.3	Q5SZK8	FREM2_HUMAN	FRAS1 related extracellular matrix protein 2	367					cell communication (GO:0007154)|homophilic cell adhesion (GO:0007156)|inner ear development (GO:0048839)|morphogenesis of an epithelium (GO:0002009)	basement membrane (GO:0005604)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.Q367R(1)		NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)		CAGCCTGGCCAGGGCTACTTG	0.582																																						uc001uwv.2																			1	Substitution - Missense(1)		lung(1)	ovary(7)|pancreas(1)|haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1)|skin(1)	11						c.(1099-1101)CAG>CGG		FRAS1-related extracellular matrix protein 2							110.0	105.0	107.0					13																	39262581		2203	4300	6503	SO:0001583	missense	341640				cell communication|homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding	g.chr13:39262581A>G	BX538150	CCDS31960.1	13q13.3	2004-12-15			ENSG00000150893	ENSG00000150893			25396	protein-coding gene	gene with protein product		608945				15345741	Standard	NM_207361		Approved	DKFZp686J0811	uc001uwv.3	Q5SZK8	OTTHUMG00000016759	ENST00000280481.7:c.1100A>G	13.37:g.39262581A>G	ENSP00000280481:p.Gln367Arg						p.Q367R	NM_207361	NP_997244	Q5SZK8	FREM2_HUMAN		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)	1	1409	+		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)	367			CSPG 1.|Extracellular (Potential).		Q4QQG1|Q5H9N8|Q5T6Q1|Q6N057|Q6ZSB4|Q7Z305|Q7Z341	Missense_Mutation	SNP	ENST00000280481.7	37	c.1100A>G	CCDS31960.1	.	.	.	.	.	.	.	.	.	.	A	16.25	3.070795	0.55539	.	.	ENSG00000150893	ENST00000280481	T	0.20598	2.06	5.94	5.94	0.96194	.	0.055166	0.64402	D	0.000001	T	0.31420	0.0796	M	0.79475	2.455	0.58432	D	0.999996	B	0.17268	0.021	B	0.20955	0.032	T	0.06935	-1.0799	10	0.66056	D	0.02	.	16.3979	0.83621	1.0:0.0:0.0:0.0	.	367	Q5SZK8	FREM2_HUMAN	R	367	ENSP00000280481:Q367R	ENSP00000280481:Q367R	Q	+	2	0	FREM2	38160581	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.335000	0.96500	2.279000	0.76181	0.459000	0.35465	CAG		PASS	0.582	FREM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044599.2	NM_207361		92	18	92	18	---	---	---	---
PCDH17	27253	broad.mit.edu	37	13	58206787	58206787	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2766-01A-01D-1522-08	TCGA-66-2766-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	452b75d0-1818-46aa-8804-9cfc0bd66449	81a4d615-e95e-4c17-87f7-c06d8dd4975a	g.chr13:58206787G>T	ENST00000377918.3	+	1	133	c.107G>T	c.(106-108)gGg>gTg	p.G36V		NM_001040429.2	NP_001035519.1	O14917	PCD17_HUMAN	protocadherin 17	36	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.G36V(1)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(30)|liver(2)|lung(54)|ovary(4)|pancreas(2)|prostate(5)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	120		Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;1.06e-05)		ACGGTGATCGGGAACATCGGC	0.642																																					Melanoma(72;952 1291 1619 12849 33676)	uc001vhq.1																			1	Substitution - Missense(1)		lung(1)	ovary(3)|pancreas(2)|upper_aerodigestive_tract(1)|skin(1)	7						c.(106-108)GGG>GTG		protocadherin 17 precursor							36.0	36.0	36.0					13																	58206787		2203	4300	6503	SO:0001583	missense	27253				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding|protein binding	g.chr13:58206787G>T	AF029343	CCDS31986.1	13q21.1	2010-01-26			ENSG00000118946	ENSG00000118946		"""Cadherins / Protocadherins : Non-clustered"""	14267	protein-coding gene	gene with protein product		611760				10835267	Standard	NM_001040429		Approved	PCDH68, PCH68	uc001vhq.1	O14917	OTTHUMG00000016992	ENST00000377918.3:c.107G>T	13.37:g.58206787G>T	ENSP00000367151:p.Gly36Val					PCDH17_uc010aec.1_Missense_Mutation_p.G36V	p.G36V	NM_001040429	NP_001035519	O14917	PCD17_HUMAN		GBM - Glioblastoma multiforme(99;1.06e-05)	1	999	+		Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132)	36			Extracellular (Potential).|Cadherin 1.		A8K1R5|Q5VVW9|Q5VVX0	Missense_Mutation	SNP	ENST00000377918.3	37	c.107G>T	CCDS31986.1	.	.	.	.	.	.	.	.	.	.	G	21.2	4.119962	0.77323	.	.	ENSG00000118946	ENST00000377918	T	0.45276	0.9	5.55	5.55	0.83447	Cadherin, N-terminal (1);Cadherin (3);Cadherin-like (1);	0.000000	0.85682	D	0.000000	T	0.77837	0.4190	H	0.97158	3.95	0.80722	D	1	D;D	0.76494	0.998;0.999	D;D	0.79784	0.988;0.993	D	0.84761	0.0762	9	.	.	.	.	19.6982	0.96039	0.0:0.0:1.0:0.0	.	36;36	O14917-2;O14917	.;PCD17_HUMAN	V	36	ENSP00000367151:G36V	.	G	+	2	0	PCDH17	57104788	1.000000	0.71417	1.000000	0.80357	0.941000	0.58515	4.373000	0.59537	2.894000	0.99253	0.655000	0.94253	GGG		PASS	0.642	PCDH17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045139.1	NM_001040429		21	9	21	9	---	---	---	---
KLHL1	57626	broad.mit.edu	37	13	70281777	70281777	+	Nonsense_Mutation	SNP	G	G	A			TCGA-66-2766-01A-01D-1522-08	TCGA-66-2766-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	452b75d0-1818-46aa-8804-9cfc0bd66449	81a4d615-e95e-4c17-87f7-c06d8dd4975a	g.chr13:70281777G>A	ENST00000377844.4	-	10	2926	c.2167C>T	c.(2167-2169)Caa>Taa	p.Q723*	KLHL1_ENST00000545028.1_Nonsense_Mutation_p.Q530*	NM_020866.2	NP_065917.1	Q9NR64	KLHL1_HUMAN	kelch-like family member 1	723					actin cytoskeleton organization (GO:0030036)|adult walking behavior (GO:0007628)|cerebellar Purkinje cell layer development (GO:0021680)|dendrite development (GO:0016358)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|dendrite (GO:0030425)|neuronal cell body (GO:0043025)	actin binding (GO:0003779)	p.Q723*(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(56)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	84		Breast(118;0.000162)		COAD - Colon adenocarcinoma(199;0.000193)|GBM - Glioblastoma multiforme(99;0.000211)		TCATTAGTTTGTGGGTCATAG	0.413																																						uc001vip.2																			1	Substitution - Nonsense(1)		lung(1)		0						c.(2167-2169)CAA>TAA		kelch-like 1 protein							165.0	133.0	144.0					13																	70281777		2203	4300	6503	SO:0001587	stop_gained	57626				actin cytoskeleton organization	cytoplasm|cytoskeleton	actin binding	g.chr13:70281777G>A	AB040923	CCDS9445.1, CCDS73582.1	13q21	2013-01-30	2013-01-30		ENSG00000150361	ENSG00000150361		"""Kelch-like"", ""BTB/POZ domain containing"""	6352	protein-coding gene	gene with protein product	"""Kelch-like protein 1"", ""Mayven-related protein 2"""	605332	"""kelch (Drosophila)-like 1"", ""kelch-like 1 (Drosophila)"""			10888605	Standard	NM_020866		Approved	KIAA1490, MRP2, FLJ30047	uc001vip.3	Q9NR64	OTTHUMG00000017056	ENST00000377844.4:c.2167C>T	13.37:g.70281777G>A	ENSP00000367075:p.Gln723*					KLHL1_uc010thm.1_Nonsense_Mutation_p.Q662*	p.Q723*	NM_020866	NP_065917	Q9NR64	KLHL1_HUMAN		COAD - Colon adenocarcinoma(199;0.000193)|GBM - Glioblastoma multiforme(99;0.000211)	10	2961	-		Breast(118;0.000162)	723			Kelch 6.		A8K5X0|Q5VZ64|Q9H4X4|Q9NR65|Q9P238	Nonsense_Mutation	SNP	ENST00000377844.4	37	c.2167C>T	CCDS9445.1	.	.	.	.	.	.	.	.	.	.	G	40	8.389696	0.98789	.	.	ENSG00000150361	ENST00000377844;ENST00000545028	.	.	.	5.19	5.19	0.71726	.	0.000000	0.64402	D	0.000020	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.25106	T	0.35	.	19.094	0.93242	0.0:0.0:1.0:0.0	.	.	.	.	X	723;530	.	ENSP00000367075:Q723X	Q	-	1	0	KLHL1	69179778	1.000000	0.71417	1.000000	0.80357	0.957000	0.61999	7.586000	0.82596	2.595000	0.87683	0.650000	0.86243	CAA		PASS	0.413	KLHL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045231.3	NM_020866		122	44	122	44	---	---	---	---
SCEL	8796	broad.mit.edu	37	13	78146272	78146272	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2766-01A-01D-1522-08	TCGA-66-2766-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	452b75d0-1818-46aa-8804-9cfc0bd66449	81a4d615-e95e-4c17-87f7-c06d8dd4975a	g.chr13:78146272C>T	ENST00000349847.3	+	9	577	c.493C>T	c.(493-495)Cca>Tca	p.P165S	SCEL_ENST00000535157.1_Intron|SCEL_ENST00000377246.3_Missense_Mutation_p.P165S	NM_144777.2	NP_659001.2	O95171	SCEL_HUMAN	sciellin	165					embryo development (GO:0009790)|epidermis development (GO:0008544)|keratinocyte differentiation (GO:0030216)	cornified envelope (GO:0001533)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	zinc ion binding (GO:0008270)	p.P165S(1)		breast(1)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(18)|ovary(5)|prostate(1)|stomach(1)|urinary_tract(1)	40		Acute lymphoblastic leukemia(28;0.0282)|Breast(118;0.037)		GBM - Glioblastoma multiforme(99;0.0233)		GTCCTGGTTTCCACCGCCCCC	0.463																																						uc001vki.2																			1	Substitution - Missense(1)		lung(1)	ovary(4)|breast(1)	5						c.(493-495)CCA>TCA		sciellin isoform 1							141.0	111.0	121.0					13																	78146272		2203	4300	6503	SO:0001583	missense	8796				embryo development|keratinocyte differentiation	cornified envelope|cytoplasm|membrane	protein binding|zinc ion binding	g.chr13:78146272C>T	AF045941	CCDS9458.1, CCDS9459.1, CCDS53877.1	13q22	2008-07-18			ENSG00000136155	ENSG00000136155			10573	protein-coding gene	gene with protein product		604112				9813070	Standard	NM_003843		Approved	FLJ21667, MGC22531	uc001vki.3	O95171	OTTHUMG00000017107	ENST00000349847.3:c.493C>T	13.37:g.78146272C>T	ENSP00000302579:p.Pro165Ser					SCEL_uc001vkj.2_Missense_Mutation_p.P165S|SCEL_uc010thx.1_Intron	p.P165S	NM_144777	NP_659001	O95171	SCEL_HUMAN		GBM - Glioblastoma multiforme(99;0.0233)	9	663	+		Acute lymphoblastic leukemia(28;0.0282)|Breast(118;0.037)	165					B7Z797|F5H651|Q53H61|Q5W0S8|Q5W0S9|Q86X00	Missense_Mutation	SNP	ENST00000349847.3	37	c.493C>T	CCDS9459.1	.	.	.	.	.	.	.	.	.	.	C	19.98	3.927001	0.73327	.	.	ENSG00000136155	ENST00000348770;ENST00000377246;ENST00000349847	T;T	0.27557	1.66;1.66	5.16	5.16	0.70880	.	0.000000	0.56097	D	0.000022	T	0.54095	0.1837	M	0.72894	2.215	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	T	0.54675	-0.8258	10	0.59425	D	0.04	-9.6249	14.0055	0.64461	0.0:1.0:0.0:0.0	.	165;165	O95171-2;O95171	.;SCEL_HUMAN	S	142;165;165	ENSP00000366454:P165S;ENSP00000302579:P165S	ENSP00000315127:P142S	P	+	1	0	SCEL	77044273	1.000000	0.71417	1.000000	0.80357	0.794000	0.44872	3.347000	0.52200	2.675000	0.91044	0.655000	0.94253	CCA		PASS	0.463	SCEL-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000045339.2	NM_144777		27	34	27	34	---	---	---	---
EFNB2	1948	broad.mit.edu	37	13	107145427	107145427	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2766-01A-01D-1522-08	TCGA-66-2766-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	452b75d0-1818-46aa-8804-9cfc0bd66449	81a4d615-e95e-4c17-87f7-c06d8dd4975a	g.chr13:107145427C>A	ENST00000245323.4	-	5	1112	c.963G>T	c.(961-963)atG>atT	p.M321I		NM_004093.3	NP_004084.1	P52799	EFNB2_HUMAN	ephrin-B2	321					anatomical structure morphogenesis (GO:0009653)|axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cell migration involved in sprouting angiogenesis (GO:0002042)|cell-cell signaling (GO:0007267)|ephrin receptor signaling pathway (GO:0048013)|lymph vessel development (GO:0001945)|negative regulation of keratinocyte proliferation (GO:0010839)|organ morphogenesis (GO:0009887)|positive regulation of cardiac muscle cell differentiation (GO:2000727)|regulation of chemotaxis (GO:0050920)|viral process (GO:0016032)	focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ephrin receptor binding (GO:0046875)	p.M321I(1)		haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(7)|ovary(1)|skin(1)	13	Lung NSC(43;0.015)|all_neural(89;0.0741)|Lung SC(71;0.14)|Medulloblastoma(90;0.169)					TCTGCGGGGGCATCTCCTGGA	0.587																																						uc001vqi.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(961-963)ATG>ATT		ephrin B2 precursor							68.0	64.0	65.0					13																	107145427		2203	4300	6503	SO:0001583	missense	1948				cell differentiation|cell-cell signaling|interspecies interaction between organisms|nervous system development	integral to plasma membrane	ephrin receptor binding	g.chr13:107145427C>A	L38734	CCDS9507.1	13q33	2011-03-09			ENSG00000125266	ENSG00000125266		"""Ephrins"""	3227	protein-coding gene	gene with protein product	"""HTK ligand"", ""ligand of eph-related kinase 5"", ""eph-related receptor tyrosine kinase ligand 5"""	600527		EPLG5		7833926	Standard	NM_004093		Approved	LERK5, Htk-L, HTKL, MGC126226, MGC126227, MGC126228	uc001vqi.3	P52799	OTTHUMG00000017324	ENST00000245323.4:c.963G>T	13.37:g.107145427C>A	ENSP00000245323:p.Met321Ile						p.M321I	NM_004093	NP_004084	P52799	EFNB2_HUMAN			5	988	-	Lung NSC(43;0.015)|all_neural(89;0.0741)|Lung SC(71;0.14)|Medulloblastoma(90;0.169)		321			Cytoplasmic (Potential).		Q5JV56	Missense_Mutation	SNP	ENST00000245323.4	37	c.963G>T	CCDS9507.1	.	.	.	.	.	.	.	.	.	.	C	19.37	3.814631	0.70912	.	.	ENSG00000125266	ENST00000245323	D	0.91124	-2.79	5.6	5.6	0.85130	.	0.142496	0.85682	D	0.000000	D	0.87188	0.6115	L	0.54323	1.7	0.80722	D	1	P	0.37276	0.589	B	0.32393	0.145	D	0.85115	0.0965	10	0.10902	T	0.67	.	19.6251	0.95674	0.0:1.0:0.0:0.0	.	321	P52799	EFNB2_HUMAN	I	321	ENSP00000245323:M321I	ENSP00000245323:M321I	M	-	3	0	EFNB2	105943428	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.020000	0.70826	2.636000	0.89361	0.655000	0.94253	ATG		PASS	0.587	EFNB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045733.4	NM_004093		113	26	113	26	---	---	---	---
COL4A2	1284	broad.mit.edu	37	13	111111202	111111202	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2766-01A-01D-1522-08	TCGA-66-2766-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	452b75d0-1818-46aa-8804-9cfc0bd66449	81a4d615-e95e-4c17-87f7-c06d8dd4975a	g.chr13:111111202G>T	ENST00000360467.5	+	22	1823	c.1517G>T	c.(1516-1518)gGc>gTc	p.G506V	COL4A2-AS2_ENST00000458403.2_RNA	NM_001846.2	NP_001837.2	P08572	CO4A2_HUMAN	collagen, type IV, alpha 2	506	Triple-helical region.				angiogenesis (GO:0001525)|axon guidance (GO:0007411)|cellular response to transforming growth factor beta stimulus (GO:0071560)|collagen catabolic process (GO:0030574)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|negative regulation of angiogenesis (GO:0016525)|transcription, DNA-templated (GO:0006351)	collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)	extracellular matrix structural constituent (GO:0005201)	p.G506V(1)		NS(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|liver(2)|lung(48)|ovary(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	80	all_cancers(4;2.21e-12)|all_epithelial(4;2.63e-07)|all_lung(23;5.81e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00323)|all_neural(89;0.0565)|Lung SC(71;0.0753)|Medulloblastoma(90;0.0922)	Breast(118;0.212)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.151)			GGCTTCGCAGGCATCAACGGG	0.612																																						uc001vqx.2																			1	Substitution - Missense(1)		lung(1)	skin(3)|central_nervous_system(2)|ovary(1)	6						c.(1516-1518)GGC>GTC		alpha 2 type IV collagen preproprotein							65.0	70.0	69.0					13																	111111202		1979	4152	6131	SO:0001583	missense	1284				angiogenesis|axon guidance|extracellular matrix organization|negative regulation of angiogenesis	collagen type IV	extracellular matrix structural constituent|protein binding	g.chr13:111111202G>T	AK025912	CCDS41907.1	13q34	2013-09-05			ENSG00000134871	ENSG00000134871		"""Collagens"""	2203	protein-coding gene	gene with protein product	"""canstatin"", ""collagen type IV alpha 2"""	120090				2439508, 3025878	Standard	NM_001846		Approved	FLJ22259, DKFZp686I14213	uc001vqx.3	P08572	OTTHUMG00000017344	ENST00000360467.5:c.1517G>T	13.37:g.111111202G>T	ENSP00000353654:p.Gly506Val						p.G506V	NM_001846	NP_001837	P08572	CO4A2_HUMAN	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.151)		22	1806	+	all_cancers(4;2.21e-12)|all_epithelial(4;2.63e-07)|all_lung(23;5.81e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00323)|all_neural(89;0.0565)|Lung SC(71;0.0753)|Medulloblastoma(90;0.0922)	Breast(118;0.212)	506			Triple-helical region.		Q14052|Q548C3|Q5VZA9|Q66K23	Missense_Mutation	SNP	ENST00000360467.5	37	c.1517G>T	CCDS41907.1	.	.	.	.	.	.	.	.	.	.	G	12.24	1.879189	0.33162	.	.	ENSG00000134871	ENST00000360467;ENST00000257309	D	0.99353	-5.77	5.37	5.37	0.77165	.	0.000000	0.56097	D	0.000033	D	0.99606	0.9857	H	0.95470	3.675	0.80722	D	1	D	0.76494	0.999	D	0.73380	0.98	D	0.97873	1.0287	10	0.87932	D	0	.	17.9069	0.88921	0.0:0.0:1.0:0.0	.	506	P08572	CO4A2_HUMAN	V	506	ENSP00000353654:G506V	ENSP00000257309:G506V	G	+	2	0	COL4A2	109909203	1.000000	0.71417	0.031000	0.17742	0.089000	0.18198	5.486000	0.66856	2.518000	0.84900	0.655000	0.94253	GGC		PASS	0.612	COL4A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045761.2	NM_001846		31	127	31	127	---	---	---	---
ADCY4	196883	broad.mit.edu	37	14	24788955	24788955	+	Missense_Mutation	SNP	A	A	G			TCGA-66-2766-01A-01D-1522-08	TCGA-66-2766-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	452b75d0-1818-46aa-8804-9cfc0bd66449	81a4d615-e95e-4c17-87f7-c06d8dd4975a	g.chr14:24788955A>G	ENST00000310677.4	-	22	2839	c.2726T>C	c.(2725-2727)tTt>tCt	p.F909S	ADCY4_ENST00000554068.2_Missense_Mutation_p.F909S|ADCY4_ENST00000418030.2_Missense_Mutation_p.F909S	NM_001198568.1|NM_001198592.1|NM_139247.3	NP_001185497.1|NP_001185521.1|NP_640340.2	Q8NFM4	ADCY4_HUMAN	adenylate cyclase 4	909					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)|membrane (GO:0016020)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)	p.F909S(1)		cervix(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34				GBM - Glioblastoma multiforme(265;0.0192)		CACCTCATCAAAATCAGCAAT	0.448																																						uc001wov.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|lung(1)|pancreas(1)	3						c.(2725-2727)TTT>TCT		adenylate cyclase 4							96.0	90.0	92.0					14																	24788955		2203	4300	6503	SO:0001583	missense	196883				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|integral to membrane|plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding|protein binding	g.chr14:24788955A>G	AF497516	CCDS9627.1	14q11.2	2013-02-04			ENSG00000129467	ENSG00000129467	4.6.1.1	"""Adenylate cyclases"""	235	protein-coding gene	gene with protein product		600292				7766992	Standard	NM_001198592		Approved	AC4	uc001woy.3	Q8NFM4	OTTHUMG00000029347	ENST00000310677.4:c.2726T>C	14.37:g.24788955A>G	ENSP00000312126:p.Phe909Ser					ADCY4_uc001wow.2_Missense_Mutation_p.F909S|ADCY4_uc010toh.1_Missense_Mutation_p.F595S|ADCY4_uc001wox.2_Missense_Mutation_p.F909S|ADCY4_uc001woy.2_Missense_Mutation_p.F909S	p.F909S	NM_139247	NP_640340	Q8NFM4	ADCY4_HUMAN		GBM - Glioblastoma multiforme(265;0.0192)	21	2732	-			909			Cytoplasmic (Potential).		B3KV74|D3DS75|Q17R40|Q6ZTM6|Q96ML7	Missense_Mutation	SNP	ENST00000310677.4	37	c.2726T>C	CCDS9627.1	.	.	.	.	.	.	.	.	.	.	A	20.7	4.041938	0.75732	.	.	ENSG00000129467	ENST00000310677;ENST00000554068;ENST00000418030	D;D;D	0.83591	-1.74;-1.74;-1.74	5.24	5.24	0.73138	Adenylyl cyclase class-3/4/guanylyl cyclase (5);	0.000000	0.49305	D	0.000146	D	0.95023	0.8389	H	0.99535	4.615	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.96637	0.9471	10	0.87932	D	0	.	13.1401	0.59430	1.0:0.0:0.0:0.0	.	909	Q8NFM4	ADCY4_HUMAN	S	909	ENSP00000312126:F909S;ENSP00000452250:F909S;ENSP00000393177:F909S	ENSP00000312126:F909S	F	-	2	0	ADCY4	23858795	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	9.087000	0.94110	2.192000	0.70111	0.533000	0.62120	TTT		PASS	0.448	ADCY4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073200.4			66	21	66	21	---	---	---	---
FANCM	57697	broad.mit.edu	37	14	45623899	45623899	+	Splice_Site	SNP	G	G	T			TCGA-66-2766-01A-01D-1522-08	TCGA-66-2766-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	452b75d0-1818-46aa-8804-9cfc0bd66449	81a4d615-e95e-4c17-87f7-c06d8dd4975a	g.chr14:45623899G>T	ENST00000267430.5	+	7	1268		c.e7-1		FANCM_ENST00000542564.2_Splice_Site|FANCM_ENST00000556036.1_Splice_Site	NM_020937.2	NP_065988.1	Q8IYD8	FANCM_HUMAN	Fanconi anemia, complementation group M						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.?(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						AATTTCTGAAGGGATGACACG	0.284								Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia																													uc001wwd.3																			1	Unknown(1)		lung(1)	ovary(3)|lung(2)|breast(2)	7						c.e7-1	Involved_in_tolerance_or_repair_of_DNA_crosslinks	Fanconi anemia, complementation group M							56.0	55.0	55.0					14																	45623899		2203	4300	6503	SO:0001630	splice_region_variant	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.chr14:45623899G>T	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.1184-1G>T	14.37:g.45623899G>T						FANCM_uc001wwc.2_Splice_Site_p.G395_splice|FANCM_uc010anf.2_Splice_Site_p.G369_splice|FANCM_uc001wwe.3_5'Flank	p.G395_splice	NM_020937	NP_065988	Q8IYD8	FANCM_HUMAN			7	1283	+								B2RTQ9|Q3YFH9|Q8N9X6|Q9HCH6	Splice_Site	SNP	ENST00000267430.5	37	c.1184_splice	CCDS32070.1	.	.	.	.	.	.	.	.	.	.	G	15.66	2.898672	0.52227	.	.	ENSG00000187790	ENST00000556036;ENST00000267430;ENST00000542564	.	.	.	4.52	4.52	0.55395	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.8115	0.85722	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	FANCM	44693649	1.000000	0.71417	0.975000	0.42487	0.822000	0.46500	7.732000	0.84908	2.065000	0.61736	0.305000	0.20034	.		PASS	0.284	FANCM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410474.1	XM_048128	Intron	37	24	37	24	---	---	---	---
RPL10L	140801	broad.mit.edu	37	14	47120507	47120507	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2766-01A-01D-1522-08	TCGA-66-2766-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	452b75d0-1818-46aa-8804-9cfc0bd66449	81a4d615-e95e-4c17-87f7-c06d8dd4975a	g.chr14:47120507C>T	ENST00000298283.3	-	1	521	c.433G>A	c.(433-435)Gag>Aag	p.E145K		NM_080746.2	NP_542784.1	Q96L21	RL10L_HUMAN	ribosomal protein L10-like	145					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.E145K(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(20)|ovary(1)	27						ACATGCTCCTCGTTCTGAAGC	0.527																																						uc001wwg.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(433-435)GAG>AAG		ribosomal protein L10-like protein							80.0	80.0	80.0					14																	47120507		2203	4300	6503	SO:0001583	missense	140801				spermatogenesis|translation	cytosolic large ribosomal subunit|nucleus	structural constituent of ribosome	g.chr14:47120507C>T	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.433G>A	14.37:g.47120507C>T	ENSP00000298283:p.Glu145Lys						p.E145K	NM_080746	NP_542784	Q96L21	RL10L_HUMAN			1	522	-			145					Q8IUD1	Missense_Mutation	SNP	ENST00000298283.3	37	c.433G>A	CCDS32071.1	.	.	.	.	.	.	.	.	.	.	T	8.203	0.798618	0.16397	.	.	ENSG00000165496	ENST00000298283	T	0.70631	-0.5	4.38	4.38	0.52667	Ribosomal protein L10e/L16 (2);	0.050056	0.85682	N	0.000000	T	0.34774	0.0909	N	0.01140	-0.99	0.20489	N	0.999892	B	0.02656	0.0	B	0.01281	0.0	T	0.32375	-0.9909	10	0.02654	T	1	-15.1971	8.6507	0.34033	0.0:0.092:0.0:0.908	.	145	Q96L21	RL10L_HUMAN	K	145	ENSP00000298283:E145K	ENSP00000298283:E145K	E	-	1	0	RPL10L	46190257	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.347000	0.59373	1.016000	0.39470	-0.254000	0.11334	GAG		PASS	0.527	RPL10L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349819.1			33	69	33	69	---	---	---	---
NIN	51199	broad.mit.edu	37	14	51239056	51239056	+	Missense_Mutation	SNP	T	T	G			TCGA-66-2766-01A-01D-1522-08	TCGA-66-2766-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	452b75d0-1818-46aa-8804-9cfc0bd66449	81a4d615-e95e-4c17-87f7-c06d8dd4975a	g.chr14:51239056T>G	ENST00000382041.3	-	9	1134	c.944A>C	c.(943-945)cAg>cCg	p.Q315P	NIN_ENST00000389868.3_Missense_Mutation_p.Q315P|NIN_ENST00000245441.5_Missense_Mutation_p.Q315P|NIN_ENST00000324330.9_Missense_Mutation_p.Q315P|NIN_ENST00000530997.2_Missense_Mutation_p.Q315P|NIN_ENST00000382043.4_Missense_Mutation_p.Q315P|NIN_ENST00000453196.1_Missense_Mutation_p.Q315P	NM_016350.4|NM_182946.1	NP_057434.4|NP_891991	Q8N4C6	NIN_HUMAN	ninein (GSK3B interacting protein)	315					centrosome localization (GO:0051642)|centrosome-templated microtubule nucleation (GO:0090222)|microtubule anchoring at centrosome (GO:0034454)	centriole (GO:0005814)|centrosome (GO:0005813)|microtubule (GO:0005874)|nucleolus (GO:0005730)|spindle pole (GO:0000922)	calcium ion binding (GO:0005509)|GTP binding (GO:0005525)	p.Q315P(2)|p.Q321P(1)		breast(4)|central_nervous_system(1)|cervix(2)|endometrium(10)|kidney(5)|large_intestine(13)|lung(16)|ovary(1)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	71	all_epithelial(31;0.00244)|Breast(41;0.127)					GCCCTCTTCCTGCCAGGTGTC	0.463			T	PDGFRB	MPD																																	uc001wym.2				Dom	yes		14	14q24	51199	T	ninein (GSK3B interacting protein)			L	PDGFRB		MPD		3	Substitution - Missense(3)		lung(3)	skin(3)|ovary(1)|kidney(1)|central_nervous_system(1)	6						c.(943-945)CAG>CCG		ninein isoform 5							81.0	66.0	71.0					14																	51239056		2203	4300	6503	SO:0001583	missense	51199				centrosome localization	centrosome|microtubule	calcium ion binding|GTP binding|protein binding	g.chr14:51239056T>G	AF212162	CCDS32078.1, CCDS32079.1, CCDS32078.2	14q21-q22	2013-01-10			ENSG00000100503	ENSG00000100503		"""EF-hand domain containing"""	14906	protein-coding gene	gene with protein product		608684				11004522, 11162463	Standard	NM_020921		Approved		uc001wyi.3	Q8N4C6	OTTHUMG00000029569	ENST00000382041.3:c.944A>C	14.37:g.51239056T>G	ENSP00000371472:p.Gln315Pro					NIN_uc001wyi.2_Missense_Mutation_p.Q315P|NIN_uc001wyj.2_RNA|NIN_uc001wyk.2_Missense_Mutation_p.Q315P|NIN_uc010tqp.1_Missense_Mutation_p.Q321P|NIN_uc001wyo.2_Missense_Mutation_p.Q315P|NIN_uc001wyp.1_Missense_Mutation_p.Q277P	p.Q315P	NM_182946	NP_891991	Q8N4C6	NIN_HUMAN			9	1135	-	all_epithelial(31;0.00244)|Breast(41;0.127)		315					A6NDB8|B7WPA3|C9JSB6|C9JSG2|C9JXL2|Q5BKU3|Q6P0P6|Q9BWU6|Q9C012|Q9C013|Q9C014|Q9H5I6|Q9HAT7|Q9HBY5|Q9HCK7|Q9UH61	Missense_Mutation	SNP	ENST00000382041.3	37	c.944A>C	CCDS32079.1	.	.	.	.	.	.	.	.	.	.	T	15.55	2.868074	0.51588	.	.	ENSG00000100503	ENST00000245441;ENST00000311149;ENST00000389868;ENST00000382043;ENST00000324292;ENST00000382041;ENST00000324330;ENST00000453196;ENST00000453401	T;T;T;T;T;T;T	0.23950	1.88;1.88;1.88;1.88;1.88;1.88;1.88	5.51	5.51	0.81932	EF-hand-like domain (1);	0.342518	0.33916	N	0.004431	T	0.41236	0.1150	L	0.36672	1.1	0.40882	D	0.984	D;D;D;B;D	0.71674	0.993;0.995;0.998;0.412;0.998	P;P;D;B;D	0.78314	0.731;0.862;0.93;0.188;0.991	T	0.27606	-1.0069	10	0.51188	T	0.08	-8.18	14.8036	0.69935	0.0:0.0:0.0:1.0	.	321;315;315;315;315	Q8N4C6-5;C9J066;Q8N4C6;Q5BKU3;Q8N4C6-7	.;.;NIN_HUMAN;.;.	P	315;315;315;315;321;315;315;315;277	ENSP00000245441:Q315P;ENSP00000374518:Q315P;ENSP00000371474:Q315P;ENSP00000371472:Q315P;ENSP00000324210:Q315P;ENSP00000412391:Q315P;ENSP00000398641:Q277P	ENSP00000245441:Q315P	Q	-	2	0	NIN	50308806	1.000000	0.71417	0.985000	0.45067	0.940000	0.58332	6.023000	0.70848	2.102000	0.63906	0.379000	0.24179	CAG		PASS	0.463	NIN-016	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000395207.2	NM_182946		58	15	58	15	---	---	---	---
NID2	22795	broad.mit.edu	37	14	52496265	52496266	+	Splice_Site	DNP	CC	CC	AA			TCGA-66-2766-01A-01D-1522-08	TCGA-66-2766-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	452b75d0-1818-46aa-8804-9cfc0bd66449	81a4d615-e95e-4c17-87f7-c06d8dd4975a	g.chr14:52496265_52496266CC>AA	ENST00000216286.5	-	10	2399_2400	c.2400_2401GG>TT	c.(2398-2403)gtGGat>gtTTat	p.D801Y	NID2_ENST00000541773.1_Splice_Site_p.D748Y	NM_007361.3	NP_031387.3	Q14112	NID2_HUMAN	nidogen 2 (osteonidogen)	801	EGF-like 3; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				basement membrane organization (GO:0071711)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|extracellular matrix organization (GO:0030198)	basement membrane (GO:0005604)|cell surface (GO:0009986)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|collagen binding (GO:0005518)	p.D801Y(2)|p.V800V(1)		NS(1)|breast(5)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(40)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	87	Breast(41;0.0639)|all_epithelial(31;0.123)					TGGCTCTTACCCACACAGTTCC	0.52																																						uc001wzo.2																			3	Substitution - Missense(2)|Substitution - coding silent(1)		lung(3)	pancreas(2)|breast(2)|ovary(1)|liver(1)|skin(1)	7						c.(2401-2403)GAT>TAT|c.(2398-2400)GTG>GTT		nidogen 2 precursor																																				SO:0001630	splice_region_variant	22795					basement membrane	calcium ion binding|collagen binding	g.chr14:52496265C>A|g.chr14:52496266C>A	AB009799	CCDS9706.1	14q22.1	2008-05-14			ENSG00000087303	ENSG00000087303			13389	protein-coding gene	gene with protein product		605399				9733643	Standard	NM_007361		Approved		uc001wzo.3	Q14112	OTTHUMG00000140298	ENST00000216286.5:c.2400_2401delinsAA	14.37:g.52496265_52496266delinsAA						NID2_uc010tqs.1_Missense_Mutation_p.D801Y|NID2_uc010tqt.1_Missense_Mutation_p.D801Y|NID2_uc001wzp.2_Missense_Mutation_p.D801Y|NID2_uc010tqs.1_Silent_p.V800V|NID2_uc010tqt.1_Silent_p.V800V|NID2_uc001wzp.2_Silent_p.V800V	p.D801Y|p.V800V	NM_007361	NP_031387	Q14112	NID2_HUMAN			10	2635|2634	-	Breast(41;0.0639)|all_epithelial(31;0.123)		801|800			EGF-like 3; calcium-binding (Potential).|EGF-like 2.		A8K6I7|B4DU19|O43710	Missense_Mutation|Silent	SNP	ENST00000216286.5	37	c.2401G>T|c.2400G>T	CCDS9706.1																																																																																				PASS	0.520	NID2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276888.1		Missense_Mutation	111	40	111	40	---	---	---	---
ARID4A	5926	broad.mit.edu	37	14	58831249	58831249	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2766-01A-01D-1522-08	TCGA-66-2766-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	452b75d0-1818-46aa-8804-9cfc0bd66449	81a4d615-e95e-4c17-87f7-c06d8dd4975a	g.chr14:58831249G>T	ENST00000355431.3	+	20	2815	c.2442G>T	c.(2440-2442)caG>caT	p.Q814H	ARID4A_ENST00000395168.3_Missense_Mutation_p.Q814H|ARID4A_ENST00000431317.2_Missense_Mutation_p.Q814H|ARID4A_ENST00000348476.3_Missense_Mutation_p.Q814H	NM_002892.3	NP_002883.3	P29374	ARI4A_HUMAN	AT rich interactive domain 4A (RBP1-like)	814					erythrocyte development (GO:0048821)|histone H3-K4 trimethylation (GO:0080182)|histone H3-K9 trimethylation (GO:0036124)|histone H4-K20 trimethylation (GO:0034773)|negative regulation of transcription, DNA-templated (GO:0045892)|regulation of gene expression by genetic imprinting (GO:0006349)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.Q814H(2)		NS(1)|breast(2)|central_nervous_system(1)|cervix(4)|endometrium(8)|kidney(2)|large_intestine(14)|lung(19)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						CATTTGGCCAGAATGAAGCAG	0.338																																						uc001xdp.2																			2	Substitution - Missense(2)		lung(2)	ovary(3)|skin(2)|lung(1)	6						c.(2440-2442)CAG>CAT		retinoblastoma-binding protein 1 isoform I							38.0	43.0	41.0					14																	58831249		2199	4294	6493	SO:0001583	missense	5926				negative regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	transcriptional repressor complex	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr14:58831249G>T	S57153	CCDS9732.1, CCDS9733.1, CCDS45114.1	14q22.3	2013-02-07	2004-01-28	2004-01-28	ENSG00000032219	ENSG00000032219		"""-"""	9885	protein-coding gene	gene with protein product		180201	"""retinoblastoma-binding protein 1"""	RBBP1		1857421, 8455946	Standard	NM_023000		Approved	RBP1, RBP-1	uc001xdp.3	P29374	OTTHUMG00000140320	ENST00000355431.3:c.2442G>T	14.37:g.58831249G>T	ENSP00000347602:p.Gln814His					ARID4A_uc001xdo.2_Missense_Mutation_p.Q814H|ARID4A_uc001xdq.2_Missense_Mutation_p.Q814H|ARID4A_uc010apg.1_Missense_Mutation_p.Q492H	p.Q814H	NM_002892	NP_002883	P29374	ARI4A_HUMAN			20	2696	+			814					Q15991|Q15992|Q15993	Missense_Mutation	SNP	ENST00000355431.3	37	c.2442G>T	CCDS9732.1	.	.	.	.	.	.	.	.	.	.	G	16.46	3.128564	0.56721	.	.	ENSG00000032219	ENST00000355431;ENST00000348476;ENST00000395168;ENST00000431317;ENST00000417477	T;T;T;T;T	0.18502	2.37;2.35;2.32;2.35;2.21	5.9	2.95	0.34219	.	0.621296	0.17616	N	0.167894	T	0.24547	0.0595	L	0.29908	0.895	0.35648	D	0.811545	D;D;D	0.67145	0.995;0.996;0.995	P;P;P	0.61201	0.885;0.862;0.885	T	0.17107	-1.0380	10	0.72032	D	0.01	-5.0881	10.2417	0.43316	0.3448:0.0:0.6552:0.0	.	814;814;814	P29374-3;P29374;P29374-2	.;ARI4A_HUMAN;.	H	814;814;814;814;492	ENSP00000347602:Q814H;ENSP00000344556:Q814H;ENSP00000378597:Q814H;ENSP00000397368:Q814H;ENSP00000416053:Q492H	ENSP00000344556:Q814H	Q	+	3	2	ARID4A	57901002	0.734000	0.28142	0.994000	0.49952	0.980000	0.70556	-0.359000	0.07632	0.328000	0.23435	0.650000	0.86243	CAG		PASS	0.338	ARID4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276927.2	NM_023001		99	35	99	35	---	---	---	---
KCNK10	54207	broad.mit.edu	37	14	88652366	88652366	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2766-01A-01D-1522-08	TCGA-66-2766-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	452b75d0-1818-46aa-8804-9cfc0bd66449	81a4d615-e95e-4c17-87f7-c06d8dd4975a	g.chr14:88652366C>T	ENST00000340700.5	-	7	1581	c.1130G>A	c.(1129-1131)cGc>cAc	p.R377H	KCNK10_ENST00000312350.5_Missense_Mutation_p.R382H|KCNK10_ENST00000319231.5_Missense_Mutation_p.R382H	NM_021161.4	NP_066984.1	P57789	KCNKA_HUMAN	potassium channel, subfamily K, member 10	377					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.R382H(2)|p.R377H(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						CAGCCGCCGGCGCTCCATGCT	0.672																																						uc001xwo.2																			3	Substitution - Missense(3)		lung(3)	ovary(2)|skin(2)|pancreas(1)	5						c.(1129-1131)CGC>CAC		potassium channel, subfamily K, member 10							25.0	28.0	27.0					14																	88652366		2132	4223	6355	SO:0001583	missense	54207				signal transduction	integral to membrane	potassium channel activity|voltage-gated ion channel activity	g.chr14:88652366C>T	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.1130G>A	14.37:g.88652366C>T	ENSP00000343104:p.Arg377His					KCNK10_uc001xwm.2_Missense_Mutation_p.R382H|KCNK10_uc001xwn.2_Missense_Mutation_p.R382H	p.R377H	NM_021161	NP_066984	P57789	KCNKA_HUMAN			7	1587	-			377			Cytoplasmic (Potential).		B2R8T4|B2RCT3|B5TJL4|Q6B014|Q8TDK7|Q8TDK8|Q9HB59	Missense_Mutation	SNP	ENST00000340700.5	37	c.1130G>A	CCDS9880.1	.	.	.	.	.	.	.	.	.	.	C	24.9	4.580184	0.86645	.	.	ENSG00000100433	ENST00000340700;ENST00000312350;ENST00000319231	D;D;D	0.93133	-3.14;-3.17;-3.15	5.95	5.95	0.96441	.	0.000000	0.53938	D	0.000044	D	0.95133	0.8423	L	0.46157	1.445	0.58432	D	0.999999	D;D;D	0.76494	0.999;0.999;0.999	D;D;D	0.67231	0.95;0.95;0.95	D	0.93161	0.6558	10	0.27785	T	0.31	.	19.3813	0.94536	0.0:1.0:0.0:0.0	.	377;382;382	P57789;B2R8T4;Q6B014	KCNKA_HUMAN;.;.	H	377;382;382	ENSP00000343104:R377H;ENSP00000310568:R382H;ENSP00000312811:R382H	ENSP00000310568:R382H	R	-	2	0	KCNK10	87722119	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	6.007000	0.70731	2.824000	0.97209	0.655000	0.94253	CGC		PASS	0.672	KCNK10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410167.1	NM_021161		20	9	20	9	---	---	---	---
KCNK10	54207	broad.mit.edu	37	14	88654444	88654444	+	Missense_Mutation	SNP	G	G	C			TCGA-66-2766-01A-01D-1522-08	TCGA-66-2766-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	452b75d0-1818-46aa-8804-9cfc0bd66449	81a4d615-e95e-4c17-87f7-c06d8dd4975a	g.chr14:88654444G>C	ENST00000340700.5	-	6	1314	c.863C>G	c.(862-864)gCt>gGt	p.A288G	KCNK10_ENST00000312350.5_Missense_Mutation_p.A293G|KCNK10_ENST00000319231.5_Missense_Mutation_p.A293G	NM_021161.4	NP_066984.1	P57789	KCNKA_HUMAN	potassium channel, subfamily K, member 10	288					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.A293G(2)|p.A288G(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						ATTGATGCCAGCGTTTCCCCC	0.448																																						uc001xwo.2																			3	Substitution - Missense(3)		lung(3)	ovary(2)|skin(2)|pancreas(1)	5						c.(862-864)GCT>GGT		potassium channel, subfamily K, member 10							151.0	145.0	147.0					14																	88654444		2203	4300	6503	SO:0001583	missense	54207				signal transduction	integral to membrane	potassium channel activity|voltage-gated ion channel activity	g.chr14:88654444G>C	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.863C>G	14.37:g.88654444G>C	ENSP00000343104:p.Ala288Gly					KCNK10_uc001xwm.2_Missense_Mutation_p.A293G|KCNK10_uc001xwn.2_Missense_Mutation_p.A293G	p.A288G	NM_021161	NP_066984	P57789	KCNKA_HUMAN			6	1320	-			288					B2R8T4|B2RCT3|B5TJL4|Q6B014|Q8TDK7|Q8TDK8|Q9HB59	Missense_Mutation	SNP	ENST00000340700.5	37	c.863C>G	CCDS9880.1	.	.	.	.	.	.	.	.	.	.	G	15.86	2.957275	0.53400	.	.	ENSG00000100433	ENST00000340700;ENST00000312350;ENST00000319231	T;T;T	0.31510	1.49;1.49;1.49	5.52	5.52	0.82312	Ion transport 2 (1);	0.207191	0.48286	D	0.000200	T	0.28797	0.0714	L	0.35854	1.095	0.58432	D	0.999995	B;B;B	0.33777	0.425;0.285;0.01	B;B;B	0.31946	0.138;0.138;0.022	T	0.04103	-1.0977	10	0.49607	T	0.09	.	18.7841	0.91947	0.0:0.0:1.0:0.0	.	288;293;293	P57789;B2R8T4;Q6B014	KCNKA_HUMAN;.;.	G	288;293;293	ENSP00000343104:A288G;ENSP00000310568:A293G;ENSP00000312811:A293G	ENSP00000310568:A293G	A	-	2	0	KCNK10	87724197	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.768000	0.68858	2.756000	0.94617	0.561000	0.74099	GCT		PASS	0.448	KCNK10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410167.1	NM_021161		159	47	159	47	---	---	---	---
KCNK10	54207	broad.mit.edu	37	14	88658601	88658601	+	Missense_Mutation	SNP	G	G	C			TCGA-66-2766-01A-01D-1522-08	TCGA-66-2766-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	452b75d0-1818-46aa-8804-9cfc0bd66449	81a4d615-e95e-4c17-87f7-c06d8dd4975a	g.chr14:88658601G>C	ENST00000340700.5	-	5	1271	c.820C>G	c.(820-822)Ctg>Gtg	p.L274V	KCNK10_ENST00000312350.5_Missense_Mutation_p.L279V|KCNK10_ENST00000319231.5_Missense_Mutation_p.L279V	NM_021161.4	NP_066984.1	P57789	KCNKA_HUMAN	potassium channel, subfamily K, member 10	274					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.L279V(2)|p.L274V(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						ACCGTGGTCAGAGTGACCACC	0.542																																						uc001xwo.2																			3	Substitution - Missense(3)		lung(3)	ovary(2)|skin(2)|pancreas(1)	5						c.(820-822)CTG>GTG		potassium channel, subfamily K, member 10							117.0	123.0	121.0					14																	88658601		2203	4300	6503	SO:0001583	missense	54207				signal transduction	integral to membrane	potassium channel activity|voltage-gated ion channel activity	g.chr14:88658601G>C	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.820C>G	14.37:g.88658601G>C	ENSP00000343104:p.Leu274Val					KCNK10_uc001xwm.2_Missense_Mutation_p.L279V|KCNK10_uc001xwn.2_Missense_Mutation_p.L279V	p.L274V	NM_021161	NP_066984	P57789	KCNKA_HUMAN			5	1277	-			274					B2R8T4|B2RCT3|B5TJL4|Q6B014|Q8TDK7|Q8TDK8|Q9HB59	Missense_Mutation	SNP	ENST00000340700.5	37	c.820C>G	CCDS9880.1	.	.	.	.	.	.	.	.	.	.	G	21.9	4.223450	0.79464	.	.	ENSG00000100433	ENST00000340700;ENST00000312350;ENST00000319231	T;T;T	0.36157	1.27;1.27;1.27	5.89	3.75	0.43078	Ion transport 2 (1);	0.000000	0.85682	D	0.000000	T	0.60805	0.2297	M	0.79926	2.475	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.999	T	0.67492	-0.5657	10	0.72032	D	0.01	.	13.4814	0.61338	0.1469:0.0:0.8531:0.0	.	274;279;279	P57789;B2R8T4;Q6B014	KCNKA_HUMAN;.;.	V	274;279;279	ENSP00000343104:L274V;ENSP00000310568:L279V;ENSP00000312811:L279V	ENSP00000310568:L279V	L	-	1	2	KCNK10	87728354	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.814000	0.62627	1.501000	0.48654	0.655000	0.94253	CTG		PASS	0.542	KCNK10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410167.1	NM_021161		117	34	117	34	---	---	---	---
CATSPERB	79820	broad.mit.edu	37	14	92105570	92105570	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2766-01A-01D-1522-08	TCGA-66-2766-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	452b75d0-1818-46aa-8804-9cfc0bd66449	81a4d615-e95e-4c17-87f7-c06d8dd4975a	g.chr14:92105570C>T	ENST00000256343.3	-	16	1613	c.1457G>A	c.(1456-1458)gGa>gAa	p.G486E		NM_024764.2	NP_079040.2	Q9H7T0	CTSRB_HUMAN	catsper channel auxiliary subunit beta	486					cell differentiation (GO:0030154)|multicellular organism reproduction (GO:0032504)|multicellular organismal development (GO:0007275)|single fertilization (GO:0007338)|sperm-egg recognition (GO:0035036)|spermatogenesis (GO:0007283)	CatSper complex (GO:0036128)|cilium (GO:0005929)|plasma membrane (GO:0005886)		p.G486E(1)		NS(1)|breast(4)|central_nervous_system(1)|kidney(3)|large_intestine(15)|liver(1)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(2)	54		all_cancers(154;0.0663)|all_epithelial(191;0.236)				AGTAACACTTCCGACTGCACT	0.398																																						uc001xzs.1																			1	Substitution - Missense(1)		lung(1)	breast(2)|skin(2)|ovary(1)	5						c.(1456-1458)GGA>GAA		cation channel, sperm-associated, beta							98.0	94.0	95.0					14																	92105570		2203	4300	6503	SO:0001583	missense	79820				cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane		g.chr14:92105570C>T	AK024360	CCDS32142.1	14q32.12	2012-02-22	2012-02-22	2007-10-18	ENSG00000133962	ENSG00000133962			20500	protein-coding gene	gene with protein product		611169	"""chromosome 14 open reading frame 161"", ""cation channel, sperm-associated, beta"""	C14orf161		17478420	Standard	NM_024764		Approved	FLJ14298	uc001xzs.1	Q9H7T0	OTTHUMG00000171118	ENST00000256343.3:c.1457G>A	14.37:g.92105570C>T	ENSP00000256343:p.Gly486Glu					CATSPERB_uc010aub.1_Missense_Mutation_p.G8E	p.G486E	NM_024764	NP_079040	Q9H7T0	CTSRB_HUMAN			16	1597	-		all_cancers(154;0.0663)|all_epithelial(191;0.236)	486					A0AV51	Missense_Mutation	SNP	ENST00000256343.3	37	c.1457G>A	CCDS32142.1	.	.	.	.	.	.	.	.	.	.	C	14.83	2.652240	0.47362	.	.	ENSG00000133962	ENST00000256343	T	0.51574	0.7	3.79	3.79	0.43588	.	0.000000	0.49916	D	0.000126	T	0.61085	0.2319	L	0.59436	1.845	0.20307	N	0.999919	D	0.89917	1.0	D	0.97110	1.0	T	0.49360	-0.8948	10	0.39692	T	0.17	-19.0412	11.4642	0.50227	0.0:1.0:0.0:0.0	.	486	Q9H7T0	CTSRB_HUMAN	E	486	ENSP00000256343:G486E	ENSP00000256343:G486E	G	-	2	0	CATSPERB	91175323	0.828000	0.29307	0.234000	0.24042	0.006000	0.05464	2.922000	0.48860	2.409000	0.81822	0.561000	0.74099	GGA		PASS	0.398	CATSPERB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411769.1	NM_024764		78	26	78	26	---	---	---	---
IGHV4-59	28392	broad.mit.edu	37	14	107083436	107083436	+	RNA	SNP	G	G	T			TCGA-66-2766-01A-01D-1522-08	TCGA-66-2766-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	452b75d0-1818-46aa-8804-9cfc0bd66449	81a4d615-e95e-4c17-87f7-c06d8dd4975a	g.chr14:107083436G>T	ENST00000455737.1	-	0	207									immunoglobulin heavy variable 4-59																		GGGGCTGCCGGATCCAGCTCC	0.572																																						uc010tyt.1																			0					0								Parts of antibodies, mostly variable regions.							89.0	92.0	91.0					14																	107083436		1868	4105	5973			8755							g.chr14:107083436G>T	L10088		14q32.33	2012-02-08			ENSG00000224373	ENSG00000224373		"""Immunoglobulins / IGH locus"""	5654	other	immunoglobulin gene							Standard	NG_001019		Approved				OTTHUMG00000151973		14.37:g.107083436G>T														113		-									RNA	SNP	ENST00000455737.1	37	c.5357C>A																																																																																					PASS	0.572	IGHV4-59-002	KNOWN	basic|appris_principal	IG_V_gene	IG_V_gene	OTTHUMT00000324620.1	NG_001019		38	110	38	110	---	---	---	---
APBA2	321	broad.mit.edu	37	15	29390704	29390704	+	Silent	SNP	G	G	T	rs367808207		TCGA-66-2766-01A-01D-1522-08	TCGA-66-2766-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	452b75d0-1818-46aa-8804-9cfc0bd66449	81a4d615-e95e-4c17-87f7-c06d8dd4975a	g.chr15:29390704G>T	ENST00000558402.1	+	10	1862	c.1263G>T	c.(1261-1263)ggG>ggT	p.G421G	APBA2_ENST00000558259.1_Silent_p.G421G|APBA2_ENST00000558330.1_Silent_p.G409G|APBA2_ENST00000561069.1_Silent_p.G421G|APBA2_ENST00000411764.1_Silent_p.G409G			Q99767	APBA2_HUMAN	amyloid beta (A4) precursor protein-binding, family A, member 2	421	PID. {ECO:0000255|PROSITE- ProRule:PRU00148}.				in utero embryonic development (GO:0001701)|locomotory behavior (GO:0007626)|multicellular organism growth (GO:0035264)|nervous system development (GO:0007399)|protein transport (GO:0015031)|regulation of gene expression (GO:0010468)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)	beta-amyloid binding (GO:0001540)	p.G421G(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(7)|liver(2)|lung(33)|stomach(1)|urinary_tract(1)	59		all_lung(180;1.73e-12)|Breast(32;2.89e-05)|Colorectal(260;0.234)		all cancers(64;7.44e-11)|Epithelial(43;5.74e-10)|GBM - Glioblastoma multiforme(186;0.026)|BRCA - Breast invasive adenocarcinoma(123;0.0286)|Lung(196;0.24)		ATTCTGAGGGGGATGCCCAGA	0.433																																						uc001zck.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(1261-1263)GGG>GGT		amyloid beta A4 precursor protein-binding,							103.0	101.0	102.0					15																	29390704		2203	4300	6503	SO:0001819	synonymous_variant	321				nervous system development|protein transport		protein binding	g.chr15:29390704G>T	AB014719	CCDS10022.1, CCDS45197.1	15q11-q12	2008-07-18	2008-07-18		ENSG00000034053	ENSG00000034053			579	protein-coding gene	gene with protein product		602712	"""X11-like"", ""amyloid beta (A4) precursor protein-binding, family A, member 2 (X11-like)"""	X11L, MINT2		8955346	Standard	NM_005503		Approved	D15S1518E, LIN-10, MGC:14091, HsT16821	uc001zck.3	Q99767	OTTHUMG00000129255	ENST00000558402.1:c.1263G>T	15.37:g.29390704G>T						APBA2_uc010azj.2_Silent_p.G409G|APBA2_uc010uat.1_Silent_p.G409G|APBA2_uc001zcl.2_Silent_p.G409G|APBA2_uc001zcm.1_Silent_p.G113G	p.G421G	NM_005503	NP_005494	Q99767	APBA2_HUMAN		all cancers(64;7.44e-11)|Epithelial(43;5.74e-10)|GBM - Glioblastoma multiforme(186;0.026)|BRCA - Breast invasive adenocarcinoma(123;0.0286)|Lung(196;0.24)	8	1470	+		all_lung(180;1.73e-12)|Breast(32;2.89e-05)|Colorectal(260;0.234)	421			PID.		E9PGI4|O60571|Q5XKC0	Silent	SNP	ENST00000558402.1	37	c.1263G>T	CCDS10022.1																																																																																				PASS	0.433	APBA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251362.3	NM_005503		43	21	43	21	---	---	---	---
EXD1	161829	broad.mit.edu	37	15	41476288	41476288	+	Silent	SNP	T	T	C	rs199676061	byFrequency	TCGA-66-2766-01A-01D-1522-08	TCGA-66-2766-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	452b75d0-1818-46aa-8804-9cfc0bd66449	81a4d615-e95e-4c17-87f7-c06d8dd4975a	g.chr15:41476288T>C	ENST00000314992.5	-	10	1576	c.1386A>G	c.(1384-1386)acA>acG	p.T462T	EXD1_ENST00000458580.2_Silent_p.T520T	NM_152596.2	NP_689809.2	Q8NHP7	EXD1_HUMAN	exonuclease 3'-5' domain containing 1	462							3'-5' exonuclease activity (GO:0008408)|nucleic acid binding (GO:0003676)	p.T462T(1)		large_intestine(5)|liver(1)|lung(4)|ovary(2)|prostate(2)|skin(2)	16						CAGCCTGTTTTGTGCATTTTA	0.398													T|||	3	0.000599042	0.0	0.0	5008	,	,		21381	0.003		0.0	False		,,,				2504	0.0					uc001znk.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(1384-1386)ACA>ACG		exonuclease 3'-5' domain containing 1							168.0	151.0	157.0					15																	41476288		2203	4300	6503	SO:0001819	synonymous_variant	161829				nucleobase, nucleoside, nucleotide and nucleic acid metabolic process	intracellular	3'-5' exonuclease activity|nucleic acid binding	g.chr15:41476288T>C	BC030628	CCDS10072.1, CCDS66738.1	15q15.1	2009-02-24	2009-02-24	2009-02-24	ENSG00000178997	ENSG00000178997			28507	protein-coding gene	gene with protein product			"""exonuclease 3'-5' domain-like 1"""	EXDL1		12477932	Standard	NM_001286441		Approved	MGC33637	uc001znk.3	Q8NHP7	OTTHUMG00000130232	ENST00000314992.5:c.1386A>G	15.37:g.41476288T>C						EXD1_uc001znj.2_Silent_p.T260T|EXD1_uc010ucv.1_Silent_p.T520T	p.T462T	NM_152596	NP_689809	Q8NHP7	EXD1_HUMAN			10	1577	-			462					A8K909|B7Z839|Q6ZW94	Silent	SNP	ENST00000314992.5	37	c.1386A>G	CCDS10072.1																																																																																				PASS	0.398	EXD1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000252553.2	NM_152596		147	61	147	61	---	---	---	---
MGA	23269	broad.mit.edu	37	15	41983842	41983842	+	Intron	SNP	C	C	G			TCGA-66-2766-01A-01D-1522-08	TCGA-66-2766-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	452b75d0-1818-46aa-8804-9cfc0bd66449	81a4d615-e95e-4c17-87f7-c06d8dd4975a	g.chr15:41983842C>G	ENST00000570161.1	+	2	1064				MIR626_ENST00000385032.1_RNA|MGA_ENST00000568630.1_Intron|MGA_ENST00000219905.7_Intron|MGA_ENST00000545763.1_Intron|MGA_ENST00000566586.1_Intron|MGA_ENST00000389936.4_Intron			O43451	MGA_HUMAN	MGA, MAX dimerization protein						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)			NS(1)|breast(4)|central_nervous_system(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(33)|ovary(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238)		OV - Ovarian serous cystadenocarcinoma(18;1.41e-18)|GBM - Glioblastoma multiforme(113;2.15e-06)|COAD - Colon adenocarcinoma(120;0.031)|Lung(196;0.0721)|BRCA - Breast invasive adenocarcinoma(123;0.0964)|Colorectal(105;0.0998)|LUSC - Lung squamous cell carcinoma(244;0.235)	Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	TGAATGATCTCAGCtgtctga	0.338																																						hsa-mir-626|MI0003640																			0					0															182.0	158.0	165.0					15																	41983842		1567	3582	5149	SO:0001627	intron_variant	693211							g.chr15:41983842C>G	AB011090	CCDS55959.1, CCDS55960.1	15q15	2012-11-15	2012-11-15		ENSG00000174197	ENSG00000174197		"""MAX dimerization proteins"", ""T-boxes"""	14010	protein-coding gene	gene with protein product			"""MAX gene associated"""				Standard	NM_001080541		Approved	KIAA0518, MAD5, MXD5, FLJ12634	uc010ucy.2	Q8IWI9		ENST00000570161.1:c.1065-4431C>G	15.37:g.41983842C>G						MGA_uc001zog.1_Intron|MGA_uc010ucy.1_Intron|MGA_uc010ucz.1_Intron										+								Q0VAX6|Q75ME7|Q86UM5	RNA	SNP	ENST00000570161.1	37	c.60C>G	CCDS55959.1																																																																																				PASS	0.338	MGA-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000420229.1	NM_001164273.1		46	84	46	84	---	---	---	---
SLC12A1	6557	broad.mit.edu	37	15	48548078	48548078	+	Silent	SNP	C	C	A			TCGA-66-2766-01A-01D-1522-08	TCGA-66-2766-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	452b75d0-1818-46aa-8804-9cfc0bd66449	81a4d615-e95e-4c17-87f7-c06d8dd4975a	g.chr15:48548078C>A	ENST00000558405.1	+	15	2027	c.2013C>A	c.(2011-2013)acC>acA	p.T671T	SLC12A1_ENST00000396577.3_Silent_p.T671T|SLC12A1_ENST00000380993.3_Silent_p.T671T			Q13621	S12A1_HUMAN	solute carrier family 12 (sodium/potassium/chloride transporter), member 1	671					cell death (GO:0008219)|chemical homeostasis (GO:0048878)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|excretion (GO:0007588)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|kidney development (GO:0001822)|potassium ion transport (GO:0006813)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical plasma membrane (GO:0016324)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	sodium:potassium:chloride symporter activity (GO:0008511)	p.T671T(2)		NS(2)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(30)|ovary(1)|prostate(2)|skin(1)	59		all_lung(180;0.00219)		all cancers(107;1.76e-09)|GBM - Glioblastoma multiforme(94;1.48e-06)	Bumetanide(DB00887)|Chlormerodrin(DB00534)|Chlorthalidone(DB00310)|Ethacrynic acid(DB00903)|Furosemide(DB00695)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Potassium Chloride(DB00761)|Quinethazone(DB01325)|Torasemide(DB00214)|Trichlormethiazide(DB01021)	TGGAATTAACCACAGTGGAAG	0.458																																						uc001zwn.3																			2	Substitution - coding silent(2)		lung(2)	ovary(1)|central_nervous_system(1)	2						c.(2011-2013)ACC>ACA		sodium potassium chloride cotransporter 2	Bumetanide(DB00887)|Chlormerodrin(DB00534)|Chlorthalidone(DB00310)|Ethacrynic acid(DB00903)|Furosemide(DB00695)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Metolazone(DB00524)|Potassium Chloride(DB00761)|Torasemide(DB00214)|Trichlormethiazide(DB01021)						78.0	66.0	70.0					15																	48548078		2198	4297	6495	SO:0001819	synonymous_variant	6557				potassium ion transport|sodium ion transport	integral to membrane|membrane fraction	sodium:potassium:chloride symporter activity	g.chr15:48548078C>A		CCDS10129.2, CCDS53940.1	15q15-q21	2013-07-18	2013-07-18		ENSG00000074803	ENSG00000074803		"""Solute carriers"""	10910	protein-coding gene	gene with protein product		600839				8640224	Standard	NM_000338		Approved	NKCC2	uc010bem.3	Q13621	OTTHUMG00000131495	ENST00000558405.1:c.2013C>A	15.37:g.48548078C>A						SLC12A1_uc010uew.1_Silent_p.T477T|SLC12A1_uc010bem.2_Silent_p.T671T|SLC12A1_uc001zwq.3_Silent_p.T442T|SLC12A1_uc001zwr.3_Silent_p.T398T	p.T671T	NM_000338	NP_000329	Q13621	S12A1_HUMAN		all cancers(107;1.76e-09)|GBM - Glioblastoma multiforme(94;1.48e-06)	16	2229	+		all_lung(180;0.00219)	671					A8JYA2|E9PDW4	Silent	SNP	ENST00000558405.1	37	c.2013C>A	CCDS10129.2																																																																																				PASS	0.458	SLC12A1-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417131.1			9	9	9	9	---	---	---	---
MYO5A	4644	broad.mit.edu	37	15	52659257	52659257	+	Missense_Mutation	SNP	C	C	T	rs577978373	byFrequency	TCGA-66-2766-01A-01D-1522-08	TCGA-66-2766-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	452b75d0-1818-46aa-8804-9cfc0bd66449	81a4d615-e95e-4c17-87f7-c06d8dd4975a	g.chr15:52659257C>T	ENST00000399231.3	-	23	3374	c.3131G>A	c.(3130-3132)cGc>cAc	p.R1044H	MYO5A_ENST00000399233.2_Missense_Mutation_p.R1044H|MYO5A_ENST00000553916.1_Missense_Mutation_p.R1044H|MYO5A_ENST00000356338.6_Missense_Mutation_p.R1044H|MYO5A_ENST00000358212.6_Missense_Mutation_p.R1044H	NM_000259.3	NP_000250	Q9Y4I1	MYO5A_HUMAN	myosin VA (heavy chain 12, myoxin)	1044					actin filament-based movement (GO:0030048)|anagen (GO:0042640)|cellular protein metabolic process (GO:0044267)|cellular response to insulin stimulus (GO:0032869)|endoplasmic reticulum localization (GO:0051643)|exocytosis (GO:0006887)|insulin secretion (GO:0030073)|locomotion involved in locomotory behavior (GO:0031987)|long-chain fatty acid biosynthetic process (GO:0042759)|melanin biosynthetic process (GO:0042438)|melanocyte differentiation (GO:0030318)|melanosome transport (GO:0032402)|membrane organization (GO:0061024)|myelination (GO:0042552)|odontogenesis (GO:0042476)|post-Golgi vesicle-mediated transport (GO:0006892)|protein localization to plasma membrane (GO:0072659)|protein transport (GO:0015031)|regulation of inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0031585)|secretory granule localization (GO:0032252)|synapse organization (GO:0050808)|synaptic transmission (GO:0007268)|transport (GO:0006810)|vesicle transport along actin filament (GO:0030050)|vesicle-mediated transport (GO:0016192)|visual perception (GO:0007601)	actomyosin (GO:0042641)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|filopodium tip (GO:0032433)|Golgi apparatus (GO:0005794)|growth cone (GO:0030426)|insulin-responsive compartment (GO:0032593)|intermediate filament (GO:0005882)|melanosome (GO:0042470)|membrane (GO:0016020)|microtubule plus-end (GO:0035371)|myosin complex (GO:0016459)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|photoreceptor outer segment (GO:0001750)|ruffle (GO:0001726)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|microfilament motor activity (GO:0000146)|poly(A) RNA binding (GO:0044822)|Rab GTPase binding (GO:0017137)	p.R1044H(1)		breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(7)|large_intestine(12)|lung(19)|ovary(3)|skin(3)|stomach(1)	57				all cancers(107;0.0085)|Colorectal(133;0.077)|READ - Rectum adenocarcinoma(133;0.196)		CTGCACGATGCGGTGATTGAG	0.403													C|||	12	0.00239617	0.0	0.0	5008	,	,		20343	0.0		0.0	False		,,,				2504	0.0123					uc002aby.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|central_nervous_system(1)	4						c.(3130-3132)CGC>CAC		myosin VA isoform 1							211.0	198.0	202.0					15																	52659257		1991	4164	6155	SO:0001583	missense	4644				actin filament-based movement|transport	cytoplasm|growth cone|myosin complex|ruffle	actin binding|ATP binding|calmodulin binding|microfilament motor activity	g.chr15:52659257C>T		CCDS42037.1, CCDS45262.1	15q21	2014-09-17	2006-09-29		ENSG00000197535	ENSG00000197535		"""Myosins / Myosin superfamily : Class V"""	7602	protein-coding gene	gene with protein product	"""myosin, heavy polypeptide kinase"", ""myosin heavy chain 12"", ""myoxin"", ""myosin V"""	160777	"""myosin VA (heavy polypeptide 12, myoxin)"""	MYH12		8188282, 8022818	Standard	NM_000259		Approved	MYO5, GS1, MYR12	uc002aby.2	Q9Y4I1	OTTHUMG00000137383	ENST00000399231.3:c.3131G>A	15.37:g.52659257C>T	ENSP00000382177:p.Arg1044His					MYO5A_uc002abx.3_Missense_Mutation_p.R1044H|MYO5A_uc010uge.1_Missense_Mutation_p.R913H	p.R1044H	NM_000259	NP_000250	Q9Y4I1	MYO5A_HUMAN		all cancers(107;0.0085)|Colorectal(133;0.077)|READ - Rectum adenocarcinoma(133;0.196)	23	3375	-			1044			Potential.		A8MZC5|O60653|Q07902|Q16249|Q9UE30|Q9UE31	Missense_Mutation	SNP	ENST00000399231.3	37	c.3131G>A	CCDS42037.1	.	.	.	.	.	.	.	.	.	.	C	14.39	2.521732	0.44866	.	.	ENSG00000197535	ENST00000399231;ENST00000399229;ENST00000399233;ENST00000356338;ENST00000358212;ENST00000546028;ENST00000553916	T;T;T;T;T	0.18338	2.22;2.22;2.22;2.22;3.55	5.58	-6.42	0.01932	.	0.624825	0.16550	N	0.209518	T	0.10208	0.0250	N	0.14661	0.345	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.04650	-1.0936	10	0.51188	T	0.08	.	19.8466	0.96710	0.1711:0.755:0.0:0.0739	.	1044;1044	Q9Y4I1;Q9Y4I1-2	MYO5A_HUMAN;.	H	1044;578;1044;1044;1044;674;1044	ENSP00000382177:R1044H;ENSP00000382179:R1044H;ENSP00000348693:R1044H;ENSP00000350945:R1044H;ENSP00000451109:R1044H	ENSP00000348693:R1044H	R	-	2	0	MYO5A	50446549	0.000000	0.05858	0.010000	0.14722	0.832000	0.47134	-0.246000	0.08878	-1.317000	0.02292	0.655000	0.94253	CGC		PASS	0.403	MYO5A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000268102.1	NM_000259		4	211	4	211	---	---	---	---
MYO9A	4649	broad.mit.edu	37	15	72192182	72192182	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2766-01A-01D-1522-08	TCGA-66-2766-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	452b75d0-1818-46aa-8804-9cfc0bd66449	81a4d615-e95e-4c17-87f7-c06d8dd4975a	g.chr15:72192182G>T	ENST00000356056.5	-	24	3788	c.3316C>A	c.(3316-3318)Cag>Aag	p.Q1106K	MYO9A_ENST00000424560.1_Missense_Mutation_p.Q1106K|MYO9A_ENST00000444904.1_Missense_Mutation_p.Q1087K|MYO9A_ENST00000564571.1_Missense_Mutation_p.Q1106K|MYO9A_ENST00000563542.1_5'UTR|MYO9A_ENST00000566885.1_Missense_Mutation_p.Q726K	NM_006901.3	NP_008832.2	B2RTY4	MYO9A_HUMAN	myosin IXA	1106	Neck or regulatory domain.				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.Q1106K(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						CTCCATTTCTGCTGGATAACG	0.493																																						uc002atl.3																			1	Substitution - Missense(1)		lung(1)	ovary(1)|pancreas(1)|skin(1)	3						c.(3316-3318)CAG>AAG		myosin IXA							85.0	78.0	80.0					15																	72192182		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.chr15:72192182G>T	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.3316C>A	15.37:g.72192182G>T	ENSP00000348349:p.Gln1106Lys					MYO9A_uc010biq.2_Missense_Mutation_p.Q726K|MYO9A_uc002atn.1_Missense_Mutation_p.Q1087K|MYO9A_uc002atk.2_5'Flank|MYO9A_uc002atm.1_5'Flank	p.Q1106K	NM_006901	NP_008832	B2RTY4	MYO9A_HUMAN			24	3789	-			1106			Neck or regulatory domain.		B0I1T5|C9IYB3|C9JA86|Q14787|Q3YLD7|Q3YLD8|Q6P986|Q9H8T5|Q9NTG2|Q9NUY2|Q9UEP3|Q9UNJ2	Missense_Mutation	SNP	ENST00000356056.5	37	c.3316C>A	CCDS10239.1	.	.	.	.	.	.	.	.	.	.	G	11.37	1.619625	0.28801	.	.	ENSG00000066933	ENST00000356056;ENST00000424560;ENST00000444904;ENST00000261864	T;T;T	0.71103	-0.4;-0.48;-0.54	5.66	3.68	0.42216	.	.	.	.	.	T	0.47691	0.1459	N	0.05467	-0.045	0.28312	N	0.922618	B;B;B	0.26876	0.162;0.003;0.059	B;B;B	0.17979	0.019;0.009;0.02	T	0.35226	-0.9797	9	0.49607	T	0.09	.	8.3053	0.32038	0.0:0.1164:0.53:0.3536	.	1087;1087;1106	B2RTY4-2;B7WP69;B2RTY4	.;.;MYO9A_HUMAN	K	1106;1106;1087;1087	ENSP00000348349:Q1106K;ENSP00000399162:Q1106K;ENSP00000398250:Q1087K	ENSP00000261864:Q1087K	Q	-	1	0	MYO9A	69979236	1.000000	0.71417	1.000000	0.80357	0.951000	0.60555	3.029000	0.49712	2.826000	0.97356	0.655000	0.94253	CAG		PASS	0.493	MYO9A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257308.1	NM_006901		88	26	88	26	---	---	---	---
LINGO1	84894	broad.mit.edu	37	15	77907685	77907685	+	Silent	SNP	G	G	A			TCGA-66-2766-01A-01D-1522-08	TCGA-66-2766-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	452b75d0-1818-46aa-8804-9cfc0bd66449	81a4d615-e95e-4c17-87f7-c06d8dd4975a	g.chr15:77907685G>A	ENST00000355300.6	-	2	738	c.564C>T	c.(562-564)agC>agT	p.S188S	LINGO1_ENST00000561030.1_Silent_p.S182S	NM_032808.5	NP_116197.4	Q96FE5	LIGO1_HUMAN	leucine rich repeat and Ig domain containing 1	188					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.S182S(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						TGTTGAGGCCGCTGAAGGCGC	0.582																																						uc002bct.1																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|lung(1)	2						c.(562-564)AGC>AGT		leucine-rich repeat neuronal 6A							122.0	129.0	127.0					15																	77907685		2168	4265	6433	SO:0001819	synonymous_variant	84894				negative regulation of axonogenesis|nerve growth factor receptor signaling pathway	integral to membrane|plasma membrane		g.chr15:77907685G>A	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.564C>T	15.37:g.77907685G>A						LINGO1_uc002bcu.1_Silent_p.S182S	p.S188S	NM_032808	NP_116197	Q96FE5	LIGO1_HUMAN			2	616	-			188			Extracellular (Potential).|LRR 5.		D3DW80|Q6NUK3|Q6UXM3|Q6VVG0|Q6VVG1|Q6VVG2|Q8N3K5|Q96K52	Silent	SNP	ENST00000355300.6	37	c.564C>T	CCDS45313.1																																																																																				PASS	0.582	LINGO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419546.1	NM_032808		120	21	120	21	---	---	---	---
AKAP13	11214	broad.mit.edu	37	15	86124126	86124126	+	Missense_Mutation	SNP	T	T	C			TCGA-66-2766-01A-01D-1522-08	TCGA-66-2766-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	452b75d0-1818-46aa-8804-9cfc0bd66449	81a4d615-e95e-4c17-87f7-c06d8dd4975a	g.chr15:86124126T>C	ENST00000394518.2	+	7	2922	c.2827T>C	c.(2827-2829)Tct>Cct	p.S943P	RP11-815J21.2_ENST00000561409.1_RNA|AKAP13_ENST00000361243.2_Missense_Mutation_p.S943P	NM_001270546.1|NM_007200.4	NP_001257475.1|NP_009131.2	Q12802	AKP13_HUMAN	A kinase (PRKA) anchor protein 13	943					apoptotic signaling pathway (GO:0097190)|neurotrophin TRK receptor signaling pathway (GO:0048011)|nuclear export (GO:0051168)|positive regulation of apoptotic process (GO:0043065)|protein phosphorylation (GO:0006468)|regulation of cardiac muscle hypertrophy (GO:0010611)|regulation of glucocorticoid mediated signaling pathway (GO:1900169)|regulation of protein kinase activity (GO:0045859)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	cAMP-dependent protein kinase activity (GO:0004691)|metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|signal transducer activity (GO:0004871)	p.S943P(1)		NS(1)|breast(2)|central_nervous_system(4)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(13)|liver(1)|lung(43)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	98						AAATGCTCTCTCTTCAGGAAC	0.433																																					Melanoma(94;603 1453 3280 32295 32951)	uc002blv.1																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(3)|kidney(2)|urinary_tract(1)|liver(1)|skin(1)|ovary(1)	9						c.(2827-2829)TCT>CCT		A-kinase anchor protein 13 isoform 2							78.0	81.0	80.0					15																	86124126		2202	4299	6501	SO:0001583	missense	11214				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|membrane|membrane fraction|nucleus	cAMP-dependent protein kinase activity|metal ion binding|protein binding|Rho guanyl-nucleotide exchange factor activity|signal transducer activity	g.chr15:86124126T>C	M90360	CCDS32319.1, CCDS32320.1, CCDS73778.1	15q24-q25	2013-01-10	2002-06-13			ENSG00000170776		"""A-kinase anchor proteins"", ""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	371	protein-coding gene	gene with protein product		604686	"""lymphoid blast crisis oncogene"""	LBC		9627117, 1860836	Standard	NM_007200		Approved	Ht31, BRX, AKAP-Lbc, c-lbc, PROTO-LB, HA-3, ARHGEF13	uc002blu.2	Q12802		ENST00000394518.2:c.2827T>C	15.37:g.86124126T>C	ENSP00000378026:p.Ser943Pro					AKAP13_uc002blt.1_Missense_Mutation_p.S943P|AKAP13_uc002blu.1_Missense_Mutation_p.S943P|AKAP13_uc010bne.1_5'Flank	p.S943P	NM_007200	NP_009131	Q12802	AKP13_HUMAN			7	2997	+			943					Q14572|Q59FP6|Q86W90|Q8WXQ6|Q96JP6|Q96P79|Q9Y5T0|Q9Y5T6	Missense_Mutation	SNP	ENST00000394518.2	37	c.2827T>C	CCDS32319.1	.	.	.	.	.	.	.	.	.	.	T	11.25	1.582572	0.28180	.	.	ENSG00000170776	ENST00000361243;ENST00000394518;ENST00000394516;ENST00000458540	T;T	0.15952	2.38;2.38	5.35	2.84	0.33178	.	.	.	.	.	T	0.11024	0.0269	L	0.29908	0.895	0.09310	N	0.999998	B;B	0.14438	0.006;0.01	B;B	0.11329	0.003;0.006	T	0.28839	-1.0031	9	0.31617	T	0.26	.	4.3815	0.11297	0.1723:0.094:0.0:0.7338	.	943;943	Q12802;Q12802-2	AKP13_HUMAN;.	P	943;943;942;942	ENSP00000354718:S943P;ENSP00000378026:S943P	ENSP00000354718:S943P	S	+	1	0	AKAP13	83925130	0.000000	0.05858	0.138000	0.22173	0.020000	0.10135	0.139000	0.16036	0.839000	0.34971	0.459000	0.35465	TCT		PASS	0.433	AKAP13-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000417318.1	NM_007200		73	178	73	178	---	---	---	---
ACSM2A	123876	broad.mit.edu	37	16	20477012	20477012	+	Silent	SNP	T	T	A			TCGA-66-2766-01A-01D-1522-08	TCGA-66-2766-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	452b75d0-1818-46aa-8804-9cfc0bd66449	81a4d615-e95e-4c17-87f7-c06d8dd4975a	g.chr16:20477012T>A	ENST00000573854.1	+	3	465	c.351T>A	c.(349-351)ccT>ccA	p.P117P	ACSM2A_ENST00000536134.1_5'UTR|ACSM2A_ENST00000575690.1_Silent_p.P117P|ACSM2A_ENST00000396104.2_Silent_p.P117P|ACSM2A_ENST00000417235.2_Silent_p.P38P|ACSM2A_ENST00000424070.1_Silent_p.P117P|ACSM2A_ENST00000219054.6_Silent_p.P117P|ACSM2A_ENST00000575558.1_3'UTR	NM_001010845.2	NP_001010845	Q08AH3	ACS2A_HUMAN	acyl-CoA synthetase medium-chain family member 2A	117					fatty acid metabolic process (GO:0006631)|glucose homeostasis (GO:0042593)|medium-chain fatty-acyl-CoA metabolic process (GO:0036112)|triglyceride homeostasis (GO:0070328)	mitochondrion (GO:0005739)	ATP binding (GO:0005524)|butyrate-CoA ligase activity (GO:0047760)|metal ion binding (GO:0046872)	p.P117P(1)		breast(2)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(34)|ovary(1)|skin(6)|stomach(1)	51						CCCGAGTGCCTGAGTGGTGGC	0.572																																						uc010bwe.2																			1	Substitution - coding silent(1)		lung(1)	skin(2)|breast(1)	3						c.(349-351)CCT>CCA		acyl-CoA synthetase medium-chain family member							87.0	73.0	78.0					16																	20477012		2203	4300	6503	SO:0001819	synonymous_variant	123876				fatty acid metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|metal ion binding	g.chr16:20477012T>A	AK091878, AK096039	CCDS32401.1	16p12.3	2014-08-08	2007-06-20	2007-06-20	ENSG00000183747	ENSG00000183747		"""Acyl-CoA synthetase family"""	32017	protein-coding gene	gene with protein product		614358	"""acyl-CoA synthetase medium-chain family member 2"""	ACSM2			Standard	NM_001010845		Approved	A-923A4.1, MGC150530	uc010bwe.3	Q08AH3	OTTHUMG00000177401	ENST00000573854.1:c.351T>A	16.37:g.20477012T>A						ACSM2A_uc010bwd.1_RNA|ACSM2A_uc010vax.1_Silent_p.P38P|ACSM2A_uc002dhf.3_Silent_p.P117P|ACSM2A_uc002dhg.3_Silent_p.P117P|ACSM2A_uc010vay.1_Silent_p.P38P	p.P117P	NM_001010845	NP_001010845	Q08AH3	ACS2A_HUMAN			4	590	+			117					B3KTT9|O75202	Silent	SNP	ENST00000573854.1	37	c.351T>A	CCDS32401.1																																																																																				PASS	0.572	ACSM2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000436764.1	NM_001010845		29	14	29	14	---	---	---	---
DNAH3	55567	broad.mit.edu	37	16	20998633	20998633	+	Missense_Mutation	SNP	T	T	C			TCGA-66-2766-01A-01D-1522-08	TCGA-66-2766-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	452b75d0-1818-46aa-8804-9cfc0bd66449	81a4d615-e95e-4c17-87f7-c06d8dd4975a	g.chr16:20998633T>C	ENST00000261383.3	-	47	7019	c.7020A>G	c.(7018-7020)atA>atG	p.I2340M	DNAH3_ENST00000415178.1_3'UTR	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	2340					cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|microtubule motor activity (GO:0003777)	p.I2340M(2)		NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		TTACCTTCTCTATGGTCTGCT	0.428																																						uc010vbe.1																			2	Substitution - Missense(2)		lung(2)	ovary(10)|skin(3)|large_intestine(2)|central_nervous_system(2)|upper_aerodigestive_tract(1)	18						c.(7018-7020)ATA>ATG		dynein, axonemal, heavy chain 3							152.0	143.0	146.0					16																	20998633		2201	4300	6501	SO:0001583	missense	55567				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr16:20998633T>C	U83574	CCDS10594.1	16p12.2	2008-08-01	2006-09-04		ENSG00000158486	ENSG00000158486		"""Axonemal dyneins"""	2949	protein-coding gene	gene with protein product		603334	"""dynein, axonemal, heavy polypeptide 3"""			9256245, 9373155	Standard	NM_017539		Approved	Dnahc3b, DLP3, Hsadhc3, DKFZp434N074	uc010vbe.2	Q8TD57	OTTHUMG00000090677	ENST00000261383.3:c.7020A>G	16.37:g.20998633T>C	ENSP00000261383:p.Ile2340Met					DNAH3_uc010vbd.1_5'Flank	p.I2340M	NM_017539	NP_060009	Q8TD57	DYH3_HUMAN		GBM - Glioblastoma multiforme(48;0.207)	47	7020	-			2340					O00437|O15437|O43326|Q3C0H2|Q8WUP9|Q9UEM3|Q9UEM5|Q9UG35	Missense_Mutation	SNP	ENST00000261383.3	37	c.7020A>G	CCDS10594.1	.	.	.	.	.	.	.	.	.	.	T	2.669	-0.278020	0.05679	.	.	ENSG00000158486	ENST00000261383	T	0.23754	1.89	5.75	-1.36	0.09085	.	1.012730	0.07910	N	0.974097	T	0.10766	0.0263	N	0.05012	-0.13	0.80722	D	1	B	0.09022	0.002	B	0.10450	0.005	T	0.22661	-1.0210	10	0.28530	T	0.3	.	4.7794	0.13195	0.4442:0.2594:0.0:0.2965	.	2340	Q8TD57	DYH3_HUMAN	M	2340	ENSP00000261383:I2340M	ENSP00000261383:I2340M	I	-	3	3	DNAH3	20906134	0.997000	0.39634	0.594000	0.28785	0.016000	0.09150	0.450000	0.21762	-0.049000	0.13379	0.477000	0.44152	ATA		PASS	0.428	DNAH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207361.1	NM_017539		185	71	185	71	---	---	---	---
TOX3	27324	broad.mit.edu	37	16	52484312	52484312	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2766-01A-01D-1522-08	TCGA-66-2766-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	452b75d0-1818-46aa-8804-9cfc0bd66449	81a4d615-e95e-4c17-87f7-c06d8dd4975a	g.chr16:52484312C>A	ENST00000219746.9	-	4	839	c.555G>T	c.(553-555)caG>caT	p.Q185H	TOX3_ENST00000407228.3_Missense_Mutation_p.Q180H	NM_001080430.2	NP_001073899.2	O15405	TOX3_HUMAN	TOX high mobility group box family member 3	185					apoptotic process (GO:0006915)|negative regulation of neuron apoptotic process (GO:0043524)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|estrogen response element binding (GO:0034056)|phosphoprotein binding (GO:0051219)|protein homodimerization activity (GO:0042803)	p.Q185H(1)|p.Q180H(1)		NS(2)|endometrium(6)|kidney(1)|lung(8)|prostate(3)|stomach(3)|upper_aerodigestive_tract(1)	24						TCAACCCCAACTGGGCGCTGA	0.572																																						uc002egw.2																			2	Substitution - Missense(2)		lung(2)		0						c.(553-555)CAG>CAT		TOX high mobility group box family member 3							151.0	158.0	155.0					16																	52484312		2121	4239	6360	SO:0001583	missense	27324				apoptosis|negative regulation of neuron apoptosis|positive regulation of anti-apoptosis|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	chromatin binding|estrogen response element binding|phosphoprotein binding|protein homodimerization activity	g.chr16:52484312C>A	U80736	CCDS54008.1, CCDS54009.1	16q12.1	2008-02-05	2007-03-20	2007-03-20		ENSG00000103460		"""Trinucleotide (CAG) repeat containing"""	11972	protein-coding gene	gene with protein product		611416	"""trinucleotide repeat containing 9"""	TNRC9		9225980	Standard	NM_001080430		Approved	CAGF9	uc002egw.2	O15405		ENST00000219746.9:c.555G>T	16.37:g.52484312C>A	ENSP00000219746:p.Gln185His					TOX3_uc010vgt.1_Missense_Mutation_p.Q180H|TOX3_uc010vgu.1_Missense_Mutation_p.Q185H	p.Q185H	NM_001080430	NP_001073899	O15405	TOX3_HUMAN			4	726	-			185					B4DRD0|B5MCW4	Missense_Mutation	SNP	ENST00000219746.9	37	c.555G>T	CCDS54009.1	.	.	.	.	.	.	.	.	.	.	C	12.94	2.088541	0.36855	.	.	ENSG00000103460	ENST00000219746;ENST00000407228	T;T	0.16324	2.36;2.35	5.71	2.64	0.31445	.	0.134260	0.50627	N	0.000104	T	0.19846	0.0477	M	0.79011	2.435	0.33700	D	0.614416	B;B	0.06786	0.001;0.001	B;B	0.06405	0.001;0.002	T	0.11591	-1.0581	10	0.51188	T	0.08	.	7.6937	0.28581	0.0:0.6849:0.1186:0.1966	.	180;185	B4DRD0;O15405	.;TOX3_HUMAN	H	185;180	ENSP00000219746:Q185H;ENSP00000385705:Q180H	ENSP00000219746:Q185H	Q	-	3	2	TOX3	51041813	0.993000	0.37304	0.886000	0.34754	0.007000	0.05969	2.688000	0.46984	0.748000	0.32831	-0.300000	0.09419	CAG		PASS	0.572	TOX3-003	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000422534.1	XM_049037		54	183	54	183	---	---	---	---
RBL2	5934	broad.mit.edu	37	16	53515706	53515706	+	Silent	SNP	C	C	A			TCGA-66-2766-01A-01D-1522-08	TCGA-66-2766-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	452b75d0-1818-46aa-8804-9cfc0bd66449	81a4d615-e95e-4c17-87f7-c06d8dd4975a	g.chr16:53515706C>A	ENST00000262133.6	+	21	3345	c.3208C>A	c.(3208-3210)Cga>Aga	p.R1070R	RBL2_ENST00000379935.4_3'UTR|RBL2_ENST00000544545.1_Silent_p.R449R	NM_005611.3	NP_005602.3	Q08999	RBL2_HUMAN	retinoblastoma-like 2	1070					chromatin modification (GO:0016568)|mitotic cell cycle (GO:0000278)|regulation of cell cycle (GO:0051726)|regulation of lipid kinase activity (GO:0043550)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)	p.R1070R(1)		breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(17)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						GCTTTCTCCTCGAGAAAAGAT	0.398																																						uc002ehi.3																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|lung(2)|upper_aerodigestive_tract(1)	5						c.(3208-3210)CGA>AGA		retinoblastoma-like 2 (p130)							105.0	102.0	103.0					16																	53515706		2198	4300	6498	SO:0001819	synonymous_variant	5934				cell cycle|chromatin modification|regulation of cell cycle|regulation of lipid kinase activity|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding	g.chr16:53515706C>A	X74594	CCDS10748.1	16q12.2	2014-03-11	2014-03-11		ENSG00000103479	ENSG00000103479			9894	protein-coding gene	gene with protein product		180203				8361765, 8643454	Standard	NM_005611		Approved	Rb2, p130	uc002ehi.4	Q08999	OTTHUMG00000133198	ENST00000262133.6:c.3208C>A	16.37:g.53515706C>A						RBL2_uc002ehj.2_Silent_p.R780R|RBL2_uc010vgw.1_Silent_p.R449R	p.R1070R	NM_005611	NP_005602	Q08999	RBL2_HUMAN			21	3326	+			1070					B7Z913|Q15073|Q16084|Q8NE70|Q92812	Silent	SNP	ENST00000262133.6	37	c.3208C>A	CCDS10748.1																																																																																				PASS	0.398	RBL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256908.3	NM_005611		93	75	93	75	---	---	---	---
FTO	79068	broad.mit.edu	37	16	53878072	53878072	+	Missense_Mutation	SNP	G	G	C			TCGA-66-2766-01A-01D-1522-08	TCGA-66-2766-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	452b75d0-1818-46aa-8804-9cfc0bd66449	81a4d615-e95e-4c17-87f7-c06d8dd4975a	g.chr16:53878072G>C	ENST00000471389.1	+	4	979	c.757G>C	c.(757-759)Gaa>Caa	p.E253Q	FTO_ENST00000394647.3_5'UTR	NM_001080432.2	NP_001073901.1	Q9C0B1	FTO_HUMAN	fat mass and obesity associated	253	Fe2OG dioxygenase domain.				adipose tissue development (GO:0060612)|DNA dealkylation involved in DNA repair (GO:0006307)|DNA demethylation (GO:0080111)|oxidative demethylation (GO:0070989)|oxidative single-stranded DNA demethylation (GO:0035552)|oxidative single-stranded RNA demethylation (GO:0035553)|regulation of lipid storage (GO:0010883)|regulation of multicellular organism growth (GO:0040014)|regulation of respiratory system process (GO:0044065)|regulation of white fat cell proliferation (GO:0070350)|RNA repair (GO:0042245)|temperature homeostasis (GO:0001659)	nuclear speck (GO:0016607)|nucleus (GO:0005634)	DNA-N1-methyladenine dioxygenase activity (GO:0043734)|ferrous iron binding (GO:0008198)|oxidative DNA demethylase activity (GO:0035516)|oxidative RNA demethylase activity (GO:0035515)	p.E253Q(1)		endometrium(1)|kidney(2)|large_intestine(7)|lung(13)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	29						GGCAGGCCCTGAAGAGGAAAG	0.363																																						uc002ehr.2																			1	Substitution - Missense(1)		lung(1)		0						c.(757-759)GAA>CAA		fat mass and obesity associated							116.0	109.0	111.0					16																	53878072		2198	4300	6498	SO:0001583	missense	79068				DNA dealkylation involved in DNA repair|oxidative single-stranded DNA demethylation|oxidative single-stranded RNA demethylation|RNA repair	nucleus	DNA-N1-methyladenine dioxygenase activity|ferrous iron binding|oxidative DNA demethylase activity|oxidative RNA demethylase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	g.chr16:53878072G>C	BC003583	CCDS32448.1	16q12.2	2013-11-15			ENSG00000140718	ENSG00000140718		"""Alkylation repair homologs"""	24678	protein-coding gene	gene with protein product	"""AlkB homolog 9"", ""alpha-ketoglutarate-dependent dioxygenase"""	610966				17434869, 17991826, 22002720	Standard	NM_001080432		Approved	KIAA1752, MGC5149, ALKBH9	uc002ehr.3	Q9C0B1	OTTHUMG00000158780	ENST00000471389.1:c.757G>C	16.37:g.53878072G>C	ENSP00000418823:p.Glu253Gln					FTO_uc010vha.1_5'UTR	p.E253Q	NM_001080432	NP_001073901	Q9C0B1	FTO_HUMAN			4	979	+			253			Fe2OG dioxygenase domain.		A2RUH1|B2RNS0|Q0P676|Q7Z785	Missense_Mutation	SNP	ENST00000471389.1	37	c.757G>C	CCDS32448.1	.	.	.	.	.	.	.	.	.	.	G	14.49	2.550165	0.45383	.	.	ENSG00000140718	ENST00000471389	T	0.79352	-1.26	5.81	5.81	0.92471	Alpha-ketoglutarate-dependent dioxygenase FTO, catalytic domain (1);	0.577593	0.19167	N	0.121031	T	0.75206	0.3818	L	0.51422	1.61	0.42635	D	0.993397	B	0.31459	0.324	B	0.35813	0.211	T	0.73694	-0.3902	10	0.46703	T	0.11	-14.8138	13.8656	0.63588	0.0:0.0:0.8482:0.1518	.	253	Q9C0B1	FTO_HUMAN	Q	253	ENSP00000418823:E253Q	ENSP00000418823:E253Q	E	+	1	0	FTO	52435573	0.057000	0.20700	0.123000	0.21794	0.246000	0.25737	1.594000	0.36697	2.756000	0.94617	0.655000	0.94253	GAA		PASS	0.363	FTO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352196.1	NM_001080432		31	88	31	88	---	---	---	---
AMFR	267	broad.mit.edu	37	16	56403212	56403212	+	Missense_Mutation	SNP	G	G	C			TCGA-66-2766-01A-01D-1522-08	TCGA-66-2766-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	452b75d0-1818-46aa-8804-9cfc0bd66449	81a4d615-e95e-4c17-87f7-c06d8dd4975a	g.chr16:56403212G>C	ENST00000290649.5	-	11	1618	c.1408C>G	c.(1408-1410)Cag>Gag	p.Q470E		NM_001144.5	NP_001135.3	Q9UKV5	AMFR_HUMAN	autocrine motility factor receptor, E3 ubiquitin protein ligase	470	CUE. {ECO:0000255|PROSITE- ProRule:PRU00468}.				aging (GO:0007568)|cellular component movement (GO:0006928)|endoplasmic reticulum unfolded protein response (GO:0030968)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|learning or memory (GO:0007611)|protein oligomerization (GO:0051259)|protein polyubiquitination (GO:0000209)|signal transduction (GO:0007165)|ubiquitin-dependent protein catabolic process (GO:0006511)	dendrite (GO:0030425)|endoplasmic reticulum membrane (GO:0005789)|growth cone (GO:0030426)|Hrd1p ubiquitin ligase complex (GO:0000836)|integral component of endoplasmic reticulum membrane (GO:0030176)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|protein complex (GO:0043234)	ligase activity (GO:0016874)|receptor activity (GO:0004872)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.Q470E(1)		NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	17						TATGGAACCTGGGGAAACATC	0.443																																					Pancreas(2;144 323 39528)	uc002eiy.2																			1	Substitution - Missense(1)		lung(1)	breast(2)	2						c.(1408-1410)CAG>GAG		autocrine motility factor receptor							114.0	102.0	106.0					16																	56403212		2198	4300	6498	SO:0001583	missense	267				endoplasmic reticulum unfolded protein response|ER-associated protein catabolic process|protein oligomerization|protein polyubiquitination	integral to endoplasmic reticulum membrane|integral to membrane of membrane fraction	protein binding|protein binding|receptor activity|ubiquitin-protein ligase activity|zinc ion binding	g.chr16:56403212G>C	L35233	CCDS10758.1	16q21	2013-01-09	2012-02-23		ENSG00000159461	ENSG00000159461		"""RING-type (C3HC4) zinc fingers"""	463	protein-coding gene	gene with protein product		603243	"""autocrine motility factor receptor"""			1649192	Standard	NM_001144		Approved	RNF45, gp78	uc002eiy.4	Q9UKV5	OTTHUMG00000133239	ENST00000290649.5:c.1408C>G	16.37:g.56403212G>C	ENSP00000290649:p.Gln470Glu					AMFR_uc002eix.2_Missense_Mutation_p.Q104E	p.Q470E	NM_001144	NP_001135	Q9UKV5	AMFR2_HUMAN			11	1613	-			470			CUE.		P26442|Q8IZ70	Missense_Mutation	SNP	ENST00000290649.5	37	c.1408C>G	CCDS10758.1	.	.	.	.	.	.	.	.	.	.	G	27.0	4.788294	0.90367	.	.	ENSG00000159461	ENST00000290649	T	0.18810	2.19	5.99	5.99	0.97316	Ubiquitin system component Cue (3);	0.000000	0.85682	D	0.000000	T	0.38558	0.1045	L	0.55990	1.75	0.80722	D	1	P;P	0.40398	0.642;0.716	P;B	0.51550	0.673;0.268	T	0.00692	-1.1607	10	0.45353	T	0.12	-25.352	20.4777	0.99188	0.0:0.0:1.0:0.0	.	470;119	Q9UKV5;Q1RN03	AMFR2_HUMAN;.	E	470	ENSP00000290649:Q470E	ENSP00000290649:Q470E	Q	-	1	0	AMFR	54960713	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.797000	0.99108	2.840000	0.97914	0.655000	0.94253	CAG		PASS	0.443	AMFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256978.2			80	72	80	72	---	---	---	---
ATP6V0D1	9114	broad.mit.edu	37	16	67472472	67472472	+	Missense_Mutation	SNP	G	G	A	rs200216007		TCGA-66-2766-01A-01D-1522-08	TCGA-66-2766-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	452b75d0-1818-46aa-8804-9cfc0bd66449	81a4d615-e95e-4c17-87f7-c06d8dd4975a	g.chr16:67472472G>A	ENST00000290949.3	-	8	1165	c.1015C>T	c.(1015-1017)Cgc>Tgc	p.R339C	ATP6V0D1_ENST00000540149.1_Missense_Mutation_p.R380C|ATP6V0D1_ENST00000567694.1_5'UTR|ATP6V0D1_ENST00000602876.1_Missense_Mutation_p.R262C	NM_004691.4	NP_004682.2	P61421	VA0D1_HUMAN	ATPase, H+ transporting, lysosomal 38kDa, V0 subunit d1	339					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|ATP hydrolysis coupled proton transport (GO:0015991)|brain development (GO:0007420)|cellular iron ion homeostasis (GO:0006879)|cellular protein metabolic process (GO:0044267)|cilium assembly (GO:0042384)|endoplasmic reticulum unfolded protein response (GO:0030968)|insulin receptor signaling pathway (GO:0008286)|interaction with host (GO:0051701)|phagosome maturation (GO:0090382)|proton transport (GO:0015992)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|axon terminus (GO:0043679)|early endosome (GO:0005769)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|phagocytic vesicle membrane (GO:0030670)|proton-transporting V-type ATPase, V0 domain (GO:0033179)|synaptic vesicle (GO:0008021)|vacuolar proton-transporting V-type ATPase complex (GO:0016471)	hydrogen-exporting ATPase activity, phosphorylative mechanism (GO:0008553)	p.R339C(1)		large_intestine(3)|lung(3)|urinary_tract(2)	8		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0439)|Epithelial(162;0.101)		GCGCGGTGGCGCTGGGCGATA	0.532																																						uc002ete.1																			1	Substitution - Missense(1)		lung(1)		0						c.(1015-1017)CGC>TGC		ATPase, H+ transporting, lysosomal, V0 subunit							137.0	114.0	122.0					16																	67472472		2198	4300	6498	SO:0001583	missense	9114				ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	endosome membrane|proton-transporting V-type ATPase, V0 domain|vacuolar proton-transporting V-type ATPase complex		g.chr16:67472472G>A	X71490	CCDS10838.1	16q22	2010-04-21	2006-01-20	2002-05-10	ENSG00000159720	ENSG00000159720		"""ATPases / V-type"""	13724	protein-coding gene	gene with protein product		607028	"""ATPase, H+ transporting, lysosomal (vacuolar proton pump), member D"", ""ATPase, H+ transporting, lysosomal 38kDa, V0 subunit d isoform 1"", ""ATPase, H+ transporting, lysosomal 38kDa, V0 subunit D1"""	ATP6D		8250920	Standard	NM_004691		Approved	ATP6DV, VATX, VPATPD, P39, Vma6	uc002ete.1	P61421	OTTHUMG00000137515	ENST00000290949.3:c.1015C>T	16.37:g.67472472G>A	ENSP00000290949:p.Arg339Cys					ATP6V0D1_uc010vjo.1_Missense_Mutation_p.R380C|ATP6V0D1_uc010vjn.1_Missense_Mutation_p.R262C	p.R339C	NM_004691	NP_004682	P61421	VA0D1_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0439)|Epithelial(162;0.101)	8	1115	-		Ovarian(137;0.0563)	339					P12953|Q02547	Missense_Mutation	SNP	ENST00000290949.3	37	c.1015C>T	CCDS10838.1	.	.	.	.	.	.	.	.	.	.	G	15.92	2.975135	0.53720	.	.	ENSG00000159720	ENST00000290949;ENST00000426604;ENST00000540149	T;T	0.31769	1.48;1.48	5.11	5.11	0.69529	.	0.000000	0.85682	D	0.000000	T	0.55305	0.1912	M	0.80982	2.52	0.80722	D	1	P;D	0.76494	0.803;0.999	B;D	0.79784	0.093;0.993	T	0.59606	-0.7423	10	0.66056	D	0.02	-17.8934	11.2486	0.49013	0.0:0.0:0.7133:0.2867	.	380;339	F5GYQ1;P61421	.;VA0D1_HUMAN	C	339;262;380	ENSP00000290949:R339C;ENSP00000441282:R380C	ENSP00000290949:R339C	R	-	1	0	ATP6V0D1	66029973	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.292000	0.43549	2.397000	0.81536	0.650000	0.86243	CGC		PASS	0.532	ATP6V0D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268835.1	NM_004691		30	68	30	68	---	---	---	---
MARVELD3	91862	broad.mit.edu	37	16	71674923	71674923	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2766-01A-01D-1522-08	TCGA-66-2766-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	452b75d0-1818-46aa-8804-9cfc0bd66449	81a4d615-e95e-4c17-87f7-c06d8dd4975a	g.chr16:71674923C>G	ENST00000299952.4	+	3	1269	c.1226C>G	c.(1225-1227)aCt>aGt	p.T409S	MARVELD3_ENST00000561682.1_Intron|MARVELD3_ENST00000565261.1_3'UTR|PHLPP2_ENST00000540628.1_3'UTR	NM_001017967.3|NM_001271329.1	NP_001017967.2|NP_001258258.1	Q96A59	MALD3_HUMAN	MARVEL domain containing 3	0					cell-cell junction organization (GO:0045216)|tight junction assembly (GO:0070830)	cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|tight junction (GO:0005923)		p.T409S(1)		NS(1)|endometrium(3)|large_intestine(5)|lung(6)|skin(2)	17		Ovarian(137;0.125)				TGGTCTGGAACTCTTTGAGAT	0.473																																						uc002fau.2																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(1225-1227)ACT>AGT		MARVEL domain containing 3 isoform 1							42.0	39.0	40.0					16																	71674923		2198	4298	6496	SO:0001583	missense	91862					integral to membrane		g.chr16:71674923C>G	BC013376	CCDS10904.1, CCDS32478.1, CCDS59270.1	16q22.2	2008-02-05	2004-07-12	2004-07-14	ENSG00000140832	ENSG00000140832			30525	protein-coding gene	gene with protein product		614094	"""MARVEL (membrane-associating) domain containing 3"""	MRVLDC3			Standard	NM_001017967		Approved		uc002fat.4	Q96A59	OTTHUMG00000137591	ENST00000299952.4:c.1226C>G	16.37:g.71674923C>G	ENSP00000299952:p.Thr409Ser					PHLPP2_uc002fav.2_RNA|MARVELD3_uc010cge.2_3'UTR	p.T409S	NM_001017967	NP_001017967	Q96A59	MALD3_HUMAN			3	1289	+		Ovarian(137;0.125)	Error:Variant_position_missing_in_Q96A59_after_alignment					A8K820|H3BQM5|Q96MJ4	Missense_Mutation	SNP	ENST00000299952.4	37	c.1226C>G	CCDS32478.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	21.5|21.5	4.164999|4.164999	0.78339|0.78339	.|.	.|.	ENSG00000040199|ENSG00000140832	ENST00000299971|ENST00000299952	.|T	.|0.50001	.|0.76	5.67|5.67	4.66|4.66	0.58398|0.58398	.|.	.|0.491794	.|0.22742	.|N	.|0.056188	T|T	0.52419|0.52419	0.1733|0.1733	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|D	.|0.53619	.|0.961	.|P	.|0.49597	.|0.616	T|T	0.55114|0.55114	-0.8191|-0.8191	5|9	0.17832|0.59425	T|D	0.49|0.04	-12.4181|-12.4181	10.1567|10.1567	0.42827|0.42827	0.0:0.9033:0.0:0.0967|0.0:0.9033:0.0:0.0967	.|.	.|409	.|Q96A59-2	.|.	D|S	753|409	.|ENSP00000299952:T409S	ENSP00000299971:E753D|ENSP00000299952:T409S	E|T	-|+	3|2	2|0	PHLPP2|MARVELD3	70232424|70232424	0.002000|0.002000	0.14202|0.14202	0.541000|0.541000	0.28102|0.28102	0.187000|0.187000	0.23431|0.23431	0.045000|0.045000	0.14013|0.14013	1.292000|1.292000	0.44672|0.44672	0.655000|0.655000	0.94253|0.94253	GAG|ACT		PASS	0.473	MARVELD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268990.1	NM_052858		11	46	11	46	---	---	---	---
ANKRD11	29123	broad.mit.edu	37	16	89347559	89347559	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2766-01A-01D-1522-08	TCGA-66-2766-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	452b75d0-1818-46aa-8804-9cfc0bd66449	81a4d615-e95e-4c17-87f7-c06d8dd4975a	g.chr16:89347559C>A	ENST00000301030.4	-	9	5851	c.5391G>T	c.(5389-5391)agG>agT	p.R1797S	ANKRD11_ENST00000378330.2_Missense_Mutation_p.R1797S	NM_001256183.1|NM_013275.5	NP_001243112.1|NP_037407.4	Q6UB99	ANR11_HUMAN	ankyrin repeat domain 11	1797					bone development (GO:0060348)|face morphogenesis (GO:0060325)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|odontogenesis of dentin-containing tooth (GO:0042475)|skeletal system morphogenesis (GO:0048705)|tissue homeostasis (GO:0001894)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)		p.R1797S(1)		breast(4)|central_nervous_system(3)|endometrium(17)|kidney(2)|large_intestine(18)|lung(20)|ovary(6)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	83		all_hematologic(23;0.00824)|Colorectal(91;0.0475)		Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142)		CCTCGGGGGTCCTCCTAATGT	0.592																																						uc002fmx.1																			1	Substitution - Missense(1)		lung(1)	ovary(4)|large_intestine(1)|central_nervous_system(1)	6						c.(5389-5391)AGG>AGT		ankyrin repeat domain 11							42.0	44.0	44.0					16																	89347559		2195	4294	6489	SO:0001583	missense	29123					nucleus		g.chr16:89347559C>A	AY373756	CCDS32513.1	16q24.3	2013-01-10				ENSG00000167522		"""Ankyrin repeat domain containing"""	21316	protein-coding gene	gene with protein product		611192				11483580	Standard	NM_001256182		Approved	LZ16, T13	uc002fnc.2	Q6UB99		ENST00000301030.4:c.5391G>T	16.37:g.89347559C>A	ENSP00000301030:p.Arg1797Ser					ANKRD11_uc002fmy.1_Missense_Mutation_p.R1797S|ANKRD11_uc002fnc.1_Missense_Mutation_p.R1797S|ANKRD11_uc002fna.1_5'Flank|ANKRD11_uc002fnb.1_Missense_Mutation_p.R1754S	p.R1797S	NM_013275	NP_037407	Q6UB99	ANR11_HUMAN		Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142)	9	5852	-		all_hematologic(23;0.00824)|Colorectal(91;0.0475)	1797					Q6NTG1|Q6QMF8	Missense_Mutation	SNP	ENST00000301030.4	37	c.5391G>T	CCDS32513.1	.	.	.	.	.	.	.	.	.	.	c	13.21	2.169884	0.38315	.	.	ENSG00000167522	ENST00000301030;ENST00000378330	T;T	0.44881	0.91;0.91	4.9	2.53	0.30540	.	0.000000	0.85682	D	0.000000	T	0.46658	0.1404	L	0.34521	1.04	0.80722	D	1	D	0.71674	0.998	D	0.78314	0.991	T	0.39143	-0.9628	10	0.51188	T	0.08	.	6.6614	0.23016	0.0:0.6248:0.0:0.3752	.	1797	Q6UB99	ANR11_HUMAN	S	1797	ENSP00000301030:R1797S;ENSP00000367581:R1797S	ENSP00000301030:R1797S	R	-	3	2	ANKRD11	87875060	1.000000	0.71417	1.000000	0.80357	0.182000	0.23217	0.636000	0.24644	1.046000	0.40249	0.457000	0.33378	AGG		PASS	0.592	ANKRD11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000430462.3	NM_013275		32	94	32	94	---	---	---	---
TP53	7157	broad.mit.edu	37	17	7578271	7578271	+	Missense_Mutation	SNP	T	T	A			TCGA-66-2766-01A-01D-1522-08	TCGA-66-2766-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	452b75d0-1818-46aa-8804-9cfc0bd66449	81a4d615-e95e-4c17-87f7-c06d8dd4975a	g.chr17:7578271T>A	ENST00000269305.4	-	6	767	c.578A>T	c.(577-579)cAt>cTt	p.H193L	TP53_ENST00000455263.2_Missense_Mutation_p.H193L|TP53_ENST00000445888.2_Missense_Mutation_p.H193L|TP53_ENST00000359597.4_Missense_Mutation_p.H193L|TP53_ENST00000413465.2_Missense_Mutation_p.H193L|TP53_ENST00000420246.2_Missense_Mutation_p.H193L|TP53_ENST00000574684.1_Intron	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	193	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		H -> D (in sporadic cancers; somatic mutation).|H -> L (in sporadic cancers; somatic mutation).|H -> N (in sporadic cancers; somatic mutation).|H -> P (in sporadic cancers; somatic mutation).|H -> Q (in sporadic cancers; somatic mutation).|H -> R (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:7887414}.|H -> Y (in sporadic cancers; somatic mutation).|QH -> HN (in a sporadic cancer; somatic mutation).|QH -> HY (in a sporadic cancer; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.H193R(80)|p.H193L(42)|p.H193P(18)|p.0?(8)|p.?(6)|p.H61R(4)|p.H100R(4)|p.H100L(4)|p.H61L(4)|p.A189_V197delAPPQHLIRV(4)|p.P191_E198>Q(3)|p.H193fs*16(3)|p.P191fs*53(2)|p.H61P(2)|p.H100P(2)|p.A189fs*53(1)|p.P191fs*6(1)|p.H193_I195delHLI(1)|p.P59_E66>Q(1)|p.P191fs*15(1)|p.P98_E105>Q(1)|p.H193_I195>AP(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)	TCGGATAAGATGCTGAGGAGG	0.562		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		193	Substitution - Missense(160)|Whole gene deletion(8)|Complex - deletion inframe(6)|Unknown(6)|Deletion - In frame(5)|Deletion - Frameshift(4)|Insertion - Frameshift(3)|Complex - frameshift(1)	p.H193R(67)|p.H193L(31)|p.H193Y(26)|p.H193P(12)|p.0?(7)|p.H193D(7)|p.H193N(4)|p.A189_V197delAPPQHLIRV(4)|p.H193fs*16(3)|p.H193H(2)|p.P191fs*53(2)|p.K164_P219del(1)|p.P191fs*15(1)|p.P191fs*6(1)|p.H100L(1)|p.H61L(1)|p.H193_I195delHLI(1)|p.H193_I195>AP(1)|p.A189fs*53(1)	lung(36)|upper_aerodigestive_tract(26)|ovary(20)|breast(18)|oesophagus(14)|haematopoietic_and_lymphoid_tissue(12)|endometrium(12)|biliary_tract(10)|liver(9)|stomach(7)|central_nervous_system(6)|large_intestine(6)|urinary_tract(5)|skin(5)|bone(4)|pancreas(2)|prostate(1)	large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245	GRCh37	CM083194|CM951225	TP53	M		c.(577-579)CAT>CTT	Other_conserved_DNA_damage_response_genes	tumor protein p53 isoform a							97.0	87.0	90.0					17																	7578271		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.chr17:7578271T>A	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.578A>T	17.37:g.7578271T>A	ENSP00000269305:p.His193Leu	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.H193L|TP53_uc002gih.2_Missense_Mutation_p.H193L|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.H61L|TP53_uc010cng.1_Missense_Mutation_p.H61L|TP53_uc002gii.1_Missense_Mutation_p.H61L|TP53_uc010cnh.1_Missense_Mutation_p.H193L|TP53_uc010cni.1_Missense_Mutation_p.H193L|TP53_uc002gij.2_Missense_Mutation_p.H193L|TP53_uc010cnj.1_Intron|TP53_uc002gin.2_Missense_Mutation_p.H100L|TP53_uc002gio.2_Missense_Mutation_p.H61L|TP53_uc010vug.1_Missense_Mutation_p.H154L	p.H193L	NM_001126112	NP_001119584	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	6	772	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	193		H -> D (in sporadic cancers; somatic mutation).|H -> Q (in sporadic cancers; somatic mutation).|H -> Y (in sporadic cancers; somatic mutation).|QH -> HN (in a sporadic cancer; somatic mutation).|H -> N (in sporadic cancers; somatic mutation).|QH -> HY (in a sporadic cancer; somatic mutation).|H -> L (in sporadic cancers; somatic mutation).|H -> P (in sporadic cancers; somatic mutation).|H -> R (in LFS; germline mutation and 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.578A>T	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	T	15.17	2.752987	0.49362	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315	D;D;D;D;D;D;D;D	0.99851	-7.17;-7.17;-7.17;-7.17;-7.17;-7.17;-7.17;-7.17	5.41	4.33	0.51752	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	0.99864	0.9936	M	0.92738	3.34	0.58432	D	0.999998	D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;1.0;1.0;1.0	D	0.97204	0.9866	10	0.87932	D	0	-29.0766	9.707	0.40222	0.0:0.0827:0.0:0.9173	.	154;193;193;100;193;193;193	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	L	193;193;193;193;193;193;182;100;61;100;61	ENSP00000410739:H193L;ENSP00000352610:H193L;ENSP00000269305:H193L;ENSP00000398846:H193L;ENSP00000391127:H193L;ENSP00000391478:H193L;ENSP00000425104:H61L;ENSP00000423862:H100L	ENSP00000269305:H193L	H	-	2	0	TP53	7518996	1.000000	0.71417	0.814000	0.32528	0.023000	0.10783	7.996000	0.88334	1.001000	0.39076	-0.256000	0.11100	CAT		PASS	0.562	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		54	16	54	16	---	---	---	---
KDM6B	23135	broad.mit.edu	37	17	7751547	7751547	+	Silent	SNP	C	C	T			TCGA-66-2766-01A-01D-1522-08	TCGA-66-2766-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	452b75d0-1818-46aa-8804-9cfc0bd66449	81a4d615-e95e-4c17-87f7-c06d8dd4975a	g.chr17:7751547C>T	ENST00000448097.2	+	11	2272	c.1941C>T	c.(1939-1941)ggC>ggT	p.G647G	KDM6B_ENST00000254846.5_Silent_p.G647G			O15054	KDM6B_HUMAN	lysine (K)-specific demethylase 6B	647	Pro-rich.				cardiac muscle cell differentiation (GO:0055007)|cellular response to hydrogen peroxide (GO:0070301)|endothelial cell differentiation (GO:0045446)|inflammatory response (GO:0006954)|mesodermal cell differentiation (GO:0048333)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	dioxygenase activity (GO:0051213)|histone demethylase activity (H3-K27 specific) (GO:0071558)|metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)	p.G647G(1)		central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(3)|lung(18)|ovary(1)|pancreas(1)|skin(5)	37						CACCCCCAGGCCCCCTGAGTA	0.701																																						uc002giw.1																			1	Substitution - coding silent(1)		lung(1)	central_nervous_system(1)|pancreas(1)	2						c.(1939-1941)GGC>GGT		lysine (K)-specific demethylase 6B							13.0	18.0	16.0					17																	7751547		1952	3969	5921	SO:0001819	synonymous_variant	23135				inflammatory response	nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	g.chr17:7751547C>T	AB002344	CCDS32552.1	17p13.1	2011-07-01	2009-04-17	2009-04-17		ENSG00000132510		"""Chromatin-modifying enzymes / K-demethylases"""	29012	protein-coding gene	gene with protein product		611577	"""jumonji domain containing 3"", ""jumonji domain containing 3, histone lysine demethylase"""	JMJD3		10662545, 9205841	Standard	NM_001080424		Approved	KIAA0346	uc002giw.1	O15054		ENST00000448097.2:c.1941C>T	17.37:g.7751547C>T						KDM6B_uc002gix.2_5'UTR	p.G647G	NM_001080424	NP_001073893	O15054	KDM6B_HUMAN			11	2317	+			647			Pro-rich.		C9IZ40|Q96G33	Silent	SNP	ENST00000448097.2	37	c.1941C>T																																																																																					PASS	0.701	KDM6B-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000440248.1	XM_043272		15	39	15	39	---	---	---	---
KRBA2	124751	broad.mit.edu	37	17	8274697	8274697	+	Silent	SNP	A	A	G			TCGA-66-2766-01A-01D-1522-08	TCGA-66-2766-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	452b75d0-1818-46aa-8804-9cfc0bd66449	81a4d615-e95e-4c17-87f7-c06d8dd4975a	g.chr17:8274697A>G	ENST00000331336.2	-	1	161	c.156T>C	c.(154-156)taT>taC	p.Y52Y	KRBA2_ENST00000396267.1_Intron|RP11-849F2.5_ENST00000580537.1_RNA|RP11-849F2.5_ENST00000583963.1_RNA|RP11-849F2.7_ENST00000582471.1_3'UTR	NM_213597.2	NP_998762.1	Q6ZNG9	KRBA2_HUMAN	KRAB-A domain containing 2	52	KRAB.				DNA integration (GO:0015074)|regulation of transcription, DNA-templated (GO:0006355)	intracellular (GO:0005622)	nucleic acid binding (GO:0003676)	p.Y52Y(1)		endometrium(2)|kidney(2)|large_intestine(7)|lung(5)|stomach(1)|urinary_tract(1)	18						AGCCTTCTAAATAATTCCAAT	0.438																																						uc002glf.1																			1	Substitution - coding silent(1)		lung(1)		0						c.(154-156)TAT>TAC		KRAB-A domain containing 2							127.0	130.0	129.0					17																	8274697		2203	4300	6503	SO:0001819	synonymous_variant	124751				DNA integration|regulation of transcription, DNA-dependent	intracellular	DNA binding	g.chr17:8274697A>G	BC024723	CCDS11141.1	17p13.1	2013-01-08	2006-08-15		ENSG00000184619	ENSG00000184619		"""-"""	26989	protein-coding gene	gene with protein product			"""KRAB A domain containing 2"""			12477932	Standard	NM_213597		Approved		uc002glf.1	Q6ZNG9	OTTHUMG00000132864	ENST00000331336.2:c.156T>C	17.37:g.8274697A>G						KRBA2_uc002glg.1_Intron	p.Y52Y	NM_213597	NP_998762	Q6ZNG9	KRBA2_HUMAN			1	162	-			52			KRAB.		Q8IYY0	Silent	SNP	ENST00000331336.2	37	c.156T>C	CCDS11141.1																																																																																				PASS	0.438	KRBA2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256338.1	NM_213597		80	154	80	154	---	---	---	---
MYH4	4622	broad.mit.edu	37	17	10346825	10346825	+	Missense_Mutation	SNP	T	T	C			TCGA-66-2766-01A-01D-1522-08	TCGA-66-2766-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	452b75d0-1818-46aa-8804-9cfc0bd66449	81a4d615-e95e-4c17-87f7-c06d8dd4975a	g.chr17:10346825T>C	ENST00000255381.2	-	40	5797	c.5687A>G	c.(5686-5688)aAc>aGc	p.N1896S	CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000399342.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA	NM_017533.2	NP_060003.2	Q9Y623	MYH4_HUMAN	myosin, heavy chain 4, skeletal muscle	1896					actin filament-based movement (GO:0030048)|ATP catabolic process (GO:0006200)|membrane organization (GO:0061024)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|response to activity (GO:0014823)	muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin filament (GO:0032982)|sarcomere (GO:0030017)	ATP binding (GO:0005524)|double-stranded RNA binding (GO:0003725)|microfilament motor activity (GO:0000146)	p.N1896S(1)		NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						CTTGGCAAGGTTGACATTGGA	0.468																																						uc002gmn.2																			1	Substitution - Missense(1)		lung(1)	ovary(10)|skin(2)|central_nervous_system(1)	13						c.(5686-5688)AAC>AGC		myosin, heavy polypeptide 4, skeletal muscle							108.0	97.0	100.0					17																	10346825		2203	4300	6503	SO:0001583	missense	4622				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	g.chr17:10346825T>C		CCDS11154.1	17p13.1	2013-09-19	2006-09-29		ENSG00000264424	ENSG00000264424		"""Myosins / Myosin superfamily : Class II"""	7574	protein-coding gene	gene with protein product		160742	"""myosin, heavy polypeptide 4, skeletal muscle"""			8518795	Standard	NM_017533		Approved	MYH2B, MyHC-2B, MyHC-IIb	uc002gmn.3	Q9Y623	OTTHUMG00000130365	ENST00000255381.2:c.5687A>G	17.37:g.10346825T>C	ENSP00000255381:p.Asn1896Ser					uc002gml.1_Intron	p.N1896S	NM_017533	NP_060003	Q9Y623	MYH4_HUMAN			40	5798	-			1896			Potential.			Missense_Mutation	SNP	ENST00000255381.2	37	c.5687A>G	CCDS11154.1	.	.	.	.	.	.	.	.	.	.	T	18.33	3.600497	0.66332	.	.	ENSG00000141048	ENST00000255381	D	0.82526	-1.62	5.0	5.0	0.66597	Myosin tail (1);	0.000000	0.40222	U	0.001159	T	0.81327	0.4799	L	0.49778	1.585	0.41223	D	0.986525	B	0.22003	0.063	B	0.31614	0.133	T	0.79342	-0.1843	10	0.49607	T	0.09	.	15.151	0.72700	0.0:0.0:0.0:1.0	.	1896	Q9Y623	MYH4_HUMAN	S	1896	ENSP00000255381:N1896S	ENSP00000255381:N1896S	N	-	2	0	MYH4	10287550	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	7.825000	0.86693	2.228000	0.72767	0.533000	0.62120	AAC		PASS	0.468	MYH4-001	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252731.1	NM_017533		84	42	84	42	---	---	---	---
MYH1	4619	broad.mit.edu	37	17	10400625	10400625	+	Missense_Mutation	SNP	G	G	C			TCGA-66-2766-01A-01D-1522-08	TCGA-66-2766-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	452b75d0-1818-46aa-8804-9cfc0bd66449	81a4d615-e95e-4c17-87f7-c06d8dd4975a	g.chr17:10400625G>C	ENST00000226207.5	-	32	4604	c.4510C>G	c.(4510-4512)Cgg>Ggg	p.R1504G	CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000399342.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA	NM_005963.3	NP_005954.3	P12882	MYH1_HUMAN	myosin, heavy chain 1, skeletal muscle, adult	1504					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.R1504G(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						TTATTTTCCCGTTTCAAGGTT	0.308																																						uc002gmo.2																			1	Substitution - Missense(1)		lung(1)	ovary(10)|skin(6)|breast(3)|upper_aerodigestive_tract(1)|kidney(1)	21						c.(4510-4512)CGG>GGG		myosin, heavy chain 1, skeletal muscle, adult							78.0	78.0	78.0					17																	10400625		2203	4300	6503	SO:0001583	missense	4619					muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity	g.chr17:10400625G>C		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.4510C>G	17.37:g.10400625G>C	ENSP00000226207:p.Arg1504Gly					uc002gml.1_Intron	p.R1504G	NM_005963	NP_005954	P12882	MYH1_HUMAN			32	4604	-			1504			Potential.		Q14CA4|Q9Y622	Missense_Mutation	SNP	ENST00000226207.5	37	c.4510C>G	CCDS11155.1	.	.	.	.	.	.	.	.	.	.	G	15.43	2.830589	0.50845	.	.	ENSG00000109061	ENST00000226207;ENST00000379814	D	0.83914	-1.78	5.76	1.02	0.19986	Myosin tail (1);	0.000000	0.40222	U	0.001157	D	0.93419	0.7901	H	0.98407	4.225	0.42929	D	0.99431	D	0.76494	0.999	D	0.81914	0.995	D	0.92313	0.5859	10	0.87932	D	0	.	9.9784	0.41797	0.0636:0.0:0.3872:0.5492	.	1504	P12882	MYH1_HUMAN	G	1504;593	ENSP00000226207:R1504G	ENSP00000226207:R1504G	R	-	1	2	MYH1	10341350	0.936000	0.31750	0.998000	0.56505	0.993000	0.82548	0.025000	0.13577	0.020000	0.15106	0.655000	0.94253	CGG		PASS	0.308	MYH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252725.1	NM_005963		65	28	65	28	---	---	---	---
CRLF3	51379	broad.mit.edu	37	17	29131049	29131049	+	Silent	SNP	G	G	C			TCGA-66-2766-01A-01D-1522-08	TCGA-66-2766-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	452b75d0-1818-46aa-8804-9cfc0bd66449	81a4d615-e95e-4c17-87f7-c06d8dd4975a	g.chr17:29131049G>C	ENST00000324238.6	-	2	331	c.207C>G	c.(205-207)ctC>ctG	p.L69L	CRLF3_ENST00000544695.1_Intron|CRLF3_ENST00000577725.1_5'Flank	NM_015986.3	NP_057070.3	Q8IUI8	CRLF3_HUMAN	cytokine receptor-like factor 3	69					G1/S transition of mitotic cell cycle (GO:0000082)|negative regulation of cell growth (GO:0030308)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of JAK-STAT cascade (GO:0046427)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)	cytoplasm (GO:0005737)		p.L69L(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(7)|prostate(1)|upper_aerodigestive_tract(1)	17		all_hematologic(16;0.014)|Acute lymphoblastic leukemia(14;0.0236)|Myeloproliferative disorder(56;0.0255)				GCTCATCCAGGAGCTTTCCAA	0.413																																					Pancreas(30;346 881 29244 33464 41299)	uc002hfr.3																			1	Substitution - coding silent(1)		lung(1)		0						c.(205-207)CTC>CTG		cytokine receptor-like factor 3							122.0	118.0	119.0					17																	29131049		2203	4300	6503	SO:0001819	synonymous_variant	51379				negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|positive regulation of cell cycle arrest|positive regulation of JAK-STAT cascade|positive regulation of transcription from RNA polymerase II promoter	cytoplasm		g.chr17:29131049G>C	AF120151	CCDS32607.1	17q11.2	2008-05-02				ENSG00000176390			17177	protein-coding gene	gene with protein product		614853					Standard	NM_015986		Approved	CREME9, CYTOR4	uc002hfr.4	Q8IUI8		ENST00000324238.6:c.207C>G	17.37:g.29131049G>C						CRLF3_uc010wbr.1_Intron	p.L69L	NM_015986	NP_057070	Q8IUI8	CRLF3_HUMAN			2	316	-		all_hematologic(16;0.014)|Acute lymphoblastic leukemia(14;0.0236)|Myeloproliferative disorder(56;0.0255)	69					A6NJF3|B2R8C3|Q2MLY7|Q9UNI3|Q9Y6M8	Silent	SNP	ENST00000324238.6	37	c.207C>G	CCDS32607.1																																																																																				PASS	0.413	CRLF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444354.1			155	131	155	131	---	---	---	---
RHOT1	55288	broad.mit.edu	37	17	30510218	30510218	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2766-01A-01D-1522-08	TCGA-66-2766-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	452b75d0-1818-46aa-8804-9cfc0bd66449	81a4d615-e95e-4c17-87f7-c06d8dd4975a	g.chr17:30510218C>T	ENST00000333942.6	+	8	706	c.467C>T	c.(466-468)tCa>tTa	p.S156L	RHOT1_ENST00000583994.1_Missense_Mutation_p.S29L|RHOT1_ENST00000358365.3_Missense_Mutation_p.S156L|RHOT1_ENST00000354266.3_Missense_Mutation_p.S135L|RHOT1_ENST00000394692.2_Missense_Mutation_p.S156L|RHOT1_ENST00000545287.2_Missense_Mutation_p.S156L|RHOT1_ENST00000580976.1_Intron|RHOT1_ENST00000581094.1_Missense_Mutation_p.S156L	NM_018307.3	NP_060777.3	Q8IXI2	MIRO1_HUMAN	ras homolog family member T1	156	Miro 1.				cellular homeostasis (GO:0019725)|mitochondrial outer membrane permeabilization (GO:0097345)|mitochondrion transport along microtubule (GO:0047497)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|integral component of mitochondrial outer membrane (GO:0031307)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)	p.S156L(1)		NS(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(10)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	28		Myeloproliferative disorder(56;0.0255)|Breast(31;0.116)|Ovarian(249;0.182)				AAGAACATATCAGAGCTCTTT	0.383																																						uc002hgz.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|central_nervous_system(1)	4						c.(466-468)TCA>TTA		ras homolog gene family, member T1 isoform 3							76.0	83.0	81.0					17																	30510218		2203	4300	6503	SO:0001583	missense	55288				apoptosis|cellular homeostasis|mitochondrion transport along microtubule|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|integral to mitochondrial outer membrane|plasma membrane	calcium ion binding|GTP binding|GTPase activity|protein binding	g.chr17:30510218C>T	AJ517412	CCDS32610.1, CCDS32611.1, CCDS32612.1, CCDS74030.1, CCDS74031.1	17q11.2-q12	2013-01-10	2012-02-27	2004-03-24		ENSG00000126858		"""EF-hand domain containing"""	21168	protein-coding gene	gene with protein product	"""mitochondrial Rho (MIRO) GTPase 1"""	613888	"""ras homolog gene family, member T1"""	ARHT1		12482879	Standard	NM_001033567		Approved	MIRO-1, FLJ11040	uc002hgw.3	Q8IXI2		ENST00000333942.6:c.467C>T	17.37:g.30510218C>T	ENSP00000334724:p.Ser156Leu					RHOT1_uc002hgw.2_Missense_Mutation_p.S156L|RHOT1_uc002hgy.2_Missense_Mutation_p.S156L|RHOT1_uc002hha.2_Missense_Mutation_p.S29L|RHOT1_uc010csv.2_RNA|RHOT1_uc002hgx.2_Missense_Mutation_p.S29L|RHOT1_uc010wby.1_Missense_Mutation_p.S156L|RHOT1_uc002hhb.2_Missense_Mutation_p.S135L|RHOT1_uc002hgv.2_Missense_Mutation_p.S156L	p.S156L	NM_018307	NP_060777	Q8IXI2	MIRO1_HUMAN			8	706	+		Myeloproliferative disorder(56;0.0255)|Breast(31;0.116)|Ovarian(249;0.182)	156			Miro 1.|Mitochondrial intermembrane (Potential).		A4FVB6|A6NFV0|B4DG48|J9JIH9|Q6NUR3|Q6P9F8|Q6PJG1|Q6YMW8|Q86UB0|Q8IW28|Q8IXJ7|Q9H067|Q9H9N8|Q9NUZ2	Missense_Mutation	SNP	ENST00000333942.6	37	c.467C>T	CCDS32612.1	.	.	.	.	.	.	.	.	.	.	C	17.45	3.391515	0.62066	.	.	ENSG00000126858	ENST00000358365;ENST00000354266;ENST00000394692;ENST00000333942;ENST00000545287	T;T;T;T	0.77489	-1.1;-1.1;-1.1;-1.1	5.28	5.28	0.74379	Small GTP-binding protein domain (1);MIRO (1);	0.000000	0.85682	D	0.000000	D	0.88020	0.6325	M	0.71296	2.17	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;0.999;0.992	D;D;D;D	0.91635	0.999;0.996;0.982;0.94	D	0.88876	0.3336	10	0.87932	D	0	-6.9556	19.257	0.93949	0.0:1.0:0.0:0.0	.	156;156;156;156	Q8IXI2-2;Q8IXI2;Q8IXI2-5;Q8IXI2-3	.;MIRO1_HUMAN;.;.	L	156	ENSP00000351132:S156L;ENSP00000378184:S156L;ENSP00000334724:S156L;ENSP00000439737:S156L	ENSP00000334724:S156L	S	+	2	0	RHOT1	27534331	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.570000	0.82390	2.627000	0.88993	0.563000	0.77884	TCA		PASS	0.383	RHOT1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000447097.1	NM_018307		114	91	114	91	---	---	---	---
TMEM132E	124842	broad.mit.edu	37	17	32961955	32961955	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2766-01A-01D-1522-08	TCGA-66-2766-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	452b75d0-1818-46aa-8804-9cfc0bd66449	81a4d615-e95e-4c17-87f7-c06d8dd4975a	g.chr17:32961955C>A	ENST00000321639.5	+	8	1884	c.1556C>A	c.(1555-1557)aCt>aAt	p.T519N		NM_207313.1	NP_997196.1	Q6IEE7	T132E_HUMAN	transmembrane protein 132E	519						integral component of membrane (GO:0016021)		p.T519N(1)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(28)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	57				BRCA - Breast invasive adenocarcinoma(366;0.231)		TCCGAGGGCACTGACCAGGTG	0.632																																						uc002hif.2																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1						c.(1555-1557)ACT>AAT		transmembrane protein 132E precursor							112.0	87.0	96.0					17																	32961955		2203	4300	6503	SO:0001583	missense	124842					integral to membrane		g.chr17:32961955C>A	BN000149	CCDS11283.1	17q12	2012-11-01			ENSG00000181291	ENSG00000181291			26991	protein-coding gene	gene with protein product							Standard	NM_207313		Approved		uc002hif.3	Q6IEE7	OTTHUMG00000132927	ENST00000321639.5:c.1556C>A	17.37:g.32961955C>A	ENSP00000316532:p.Thr519Asn						p.T519N	NM_207313	NP_997196	Q6IEE7	T132E_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.231)	8	1884	+			519			Extracellular (Potential).		Q8WUF4|Q8WVA5	Missense_Mutation	SNP	ENST00000321639.5	37	c.1556C>A	CCDS11283.1	.	.	.	.	.	.	.	.	.	.	C	14.54	2.566615	0.45694	.	.	ENSG00000181291	ENST00000321639	T	0.18960	2.18	5.22	5.22	0.72569	.	0.092925	0.64402	D	0.000001	T	0.42630	0.1211	L	0.50333	1.59	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.11179	-1.0598	10	0.52906	T	0.07	-42.1852	17.9499	0.89050	0.0:1.0:0.0:0.0	.	519	Q6IEE7	T132E_HUMAN	N	519	ENSP00000316532:T519N	ENSP00000316532:T519N	T	+	2	0	TMEM132E	29986068	0.998000	0.40836	0.952000	0.39060	0.946000	0.59487	3.866000	0.56040	2.725000	0.93324	0.498000	0.49722	ACT		PASS	0.632	TMEM132E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256440.2	NM_207313		67	61	67	61	---	---	---	---
HEATR9	256957	broad.mit.edu	37	17	34185444	34185444	+	Missense_Mutation	SNP	A	A	G			TCGA-66-2766-01A-01D-1522-08	TCGA-66-2766-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	452b75d0-1818-46aa-8804-9cfc0bd66449	81a4d615-e95e-4c17-87f7-c06d8dd4975a	g.chr17:34185444A>G	ENST00000311880.2	-	10	1173	c.1025T>C	c.(1024-1026)gTc>gCc	p.V342A	C17orf66_ENST00000592980.1_Missense_Mutation_p.V302A	NM_152781.2	NP_689994.2	A2RTY3	HEAT9_HUMAN		342					hematopoietic progenitor cell differentiation (GO:0002244)			p.V342A(1)		breast(3)|central_nervous_system(1)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(6)|lung(11)|skin(2)|stomach(4)	38		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0184)		TACCTCAAGGACACTGGAAGA	0.547																																						uc002hke.1																			1	Substitution - Missense(1)		lung(1)	breast(2)|skin(1)	3						c.(1024-1026)GTC>GCC		hypothetical protein LOC256957							129.0	88.0	102.0					17																	34185444		2203	4300	6503	SO:0001583	missense	256957						binding	g.chr17:34185444A>G																												ENST00000311880.2:c.1025T>C	17.37:g.34185444A>G	ENSP00000309560:p.Val342Ala					C17orf66_uc010wck.1_RNA|C17orf66_uc010wcl.1_Missense_Mutation_p.V302A|C17orf66_uc010wcm.1_Missense_Mutation_p.V308A	p.V342A	NM_152781	NP_689994	A2RTY3	CQ066_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (308;0.0184)	10	1174	-		Ovarian(249;0.17)	342					B4DX21|B4DXA4|B4DXF0|Q8N4R4|Q96M46	Missense_Mutation	SNP	ENST00000311880.2	37	c.1025T>C	CCDS11299.1	.	.	.	.	.	.	.	.	.	.	A	10.73	1.433366	0.25813	.	.	ENSG00000172653	ENST00000311880	T	0.48201	0.82	4.02	2.93	0.34026	Armadillo-like helical (1);Armadillo-type fold (1);	0.385250	0.19053	N	0.123999	T	0.25494	0.0620	N	0.19112	0.55	0.25466	N	0.987875	B;B;B	0.15930	0.008;0.015;0.009	B;B;B	0.17433	0.011;0.018;0.012	T	0.23404	-1.0189	10	0.07482	T	0.82	.	6.1893	0.20516	0.8826:0.0:0.1174:0.0	.	308;302;342	A2RTY3-4;A2RTY3-3;A2RTY3	.;.;CQ066_HUMAN	A	342	ENSP00000309560:V342A	ENSP00000309560:V342A	V	-	2	0	C17orf66	31209557	0.979000	0.34478	0.786000	0.31890	0.786000	0.44442	1.617000	0.36943	0.701000	0.31803	0.254000	0.18369	GTC		PASS	0.547	C17orf66-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256487.1			43	44	43	44	---	---	---	---
SYNRG	11276	broad.mit.edu	37	17	35931928	35931928	+	Nonsense_Mutation	SNP	C	C	A			TCGA-66-2766-01A-01D-1522-08	TCGA-66-2766-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	452b75d0-1818-46aa-8804-9cfc0bd66449	81a4d615-e95e-4c17-87f7-c06d8dd4975a	g.chr17:35931928C>A	ENST00000339208.6	-	9	1200	c.1060G>T	c.(1060-1062)Gaa>Taa	p.E354*	SYNRG_ENST00000345615.4_Nonsense_Mutation_p.E276*|SYNRG_ENST00000394378.2_Nonsense_Mutation_p.E276*|SYNRG_ENST00000585472.1_Nonsense_Mutation_p.E275*|SYNRG_ENST00000591288.1_Nonsense_Mutation_p.E276*|SYNRG_ENST00000588194.1_5'UTR|SYNRG_ENST00000346661.4_Nonsense_Mutation_p.E354*|SYNRG_ENST00000502449.2_Nonsense_Mutation_p.E276*	NM_001163544.1|NM_001163545.1|NM_007247.4	NP_001157016.1|NP_001157017.1|NP_009178.3	Q9UMZ2	SYNRG_HUMAN	synergin, gamma	354	EH. {ECO:0000255|PROSITE- ProRule:PRU00077}.				endocytosis (GO:0006897)|intracellular protein transport (GO:0006886)	AP-1 adaptor complex (GO:0030121)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)	calcium ion binding (GO:0005509)	p.E354*(1)		breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						GTATAAAGTTCTTCTTTTGTA	0.373																																						uc002hoa.2																			1	Substitution - Nonsense(1)		lung(1)	ovary(2)	2						c.(1060-1062)GAA>TAA		synergin, gamma isoform 1							116.0	109.0	111.0					17																	35931928		2203	4300	6503	SO:0001587	stop_gained	11276				endocytosis|intracellular protein transport	AP-1 adaptor complex	calcium ion binding	g.chr17:35931928C>A	AF169548	CCDS11321.1, CCDS11322.1, CCDS11322.2, CCDS54113.1, CCDS54114.1, CCDS59284.1, CCDS59285.1	17q12	2014-04-16	2009-07-20	2009-07-20	ENSG00000006114	ENSG00000275066			557	protein-coding gene	gene with protein product	"""gamma-synergin"", ""adaptor-related protein complex 1 gamma subunit-binding protein 1"""	607291	"""AP1 gamma subunit binding protein 1"""	AP1GBP1		10477754	Standard	XM_005256980		Approved	SYNG, MGC104959	uc010wdf.2	Q9UMZ2	OTTHUMG00000188473	ENST00000339208.6:c.1060G>T	17.37:g.35931928C>A	ENSP00000343610:p.Glu354*					SYNRG_uc010wde.1_Nonsense_Mutation_p.E276*|SYNRG_uc010wdf.1_Nonsense_Mutation_p.E276*|SYNRG_uc002hoc.2_Nonsense_Mutation_p.E275*|SYNRG_uc002hoe.2_Nonsense_Mutation_p.E276*|SYNRG_uc002hod.2_Nonsense_Mutation_p.E276*|SYNRG_uc010wdg.1_Nonsense_Mutation_p.E276*|SYNRG_uc002hob.2_Nonsense_Mutation_p.E354*|SYNRG_uc002hof.2_Nonsense_Mutation_p.E66*|SYNRG_uc010cvd.1_Nonsense_Mutation_p.E154*|SYNRG_uc002hog.1_Nonsense_Mutation_p.E488*|SYNRG_uc010wdh.1_3'UTR	p.E354*	NM_007247	NP_009178	Q9UMZ2	SYNRG_HUMAN			9	1143	-			354			EH.		A8MWU4|B7ZKZ2|B7ZKZ3|Q17RI2|Q5BKU5|Q6ZT17	Nonsense_Mutation	SNP	ENST00000339208.6	37	c.1060G>T	CCDS11321.1	.	.	.	.	.	.	.	.	.	.	C	26.4	4.734406	0.89482	.	.	ENSG00000006114	ENST00000346661;ENST00000339208;ENST00000345615;ENST00000502449;ENST00000394378	.	.	.	5.9	5.9	0.94986	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.27082	T	0.32	-23.7778	20.2821	0.98520	0.0:1.0:0.0:0.0	.	.	.	.	X	354;276;354;276;276	.	ENSP00000343610:E276X	E	-	1	0	SYNRG	33006041	1.000000	0.71417	1.000000	0.80357	0.884000	0.51177	7.818000	0.86416	2.786000	0.95864	0.563000	0.77884	GAA		PASS	0.373	SYNRG-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256811.2	NM_007247		84	67	84	67	---	---	---	---
SRCIN1	80725	broad.mit.edu	37	17	36708245	36708245	+	Silent	SNP	C	C	A	rs183571525		TCGA-66-2766-01A-01D-1522-08	TCGA-66-2766-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	452b75d0-1818-46aa-8804-9cfc0bd66449	81a4d615-e95e-4c17-87f7-c06d8dd4975a	g.chr17:36708245C>A	ENST00000264659.7	-	14	2828	c.2604G>T	c.(2602-2604)ccG>ccT	p.P868P	SRCIN1_ENST00000578925.1_Silent_p.P902P|SRCIN1_ENST00000398579.4_5'UTR	NM_025248.2	NP_079524.2	Q9C0H9	SRCN1_HUMAN	SRC kinase signaling inhibitor 1	740	Pro-rich.				exocytosis (GO:0006887)|negative regulation of protein tyrosine kinase activity (GO:0061099)|positive regulation of protein tyrosine kinase activity (GO:0061098)|regulation of cell migration (GO:0030334)|regulation of dendritic spine morphogenesis (GO:0061001)|substrate adhesion-dependent cell spreading (GO:0034446)	actin cytoskeleton (GO:0015629)|axon (GO:0030424)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	protein kinase binding (GO:0019901)	p.P868P(1)		endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)	19						GCAGGTTCAGCGGGGGGCTGG	0.617																																						uc002hqd.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(2602-2604)CCG>CCT		SNAP25-interacting protein							36.0	42.0	40.0					17																	36708245		1921	4106	6027	SO:0001819	synonymous_variant	80725				exocytosis|negative regulation of protein tyrosine kinase activity|positive regulation of protein tyrosine kinase activity|regulation of cell migration|regulation of dendritic spine morphogenesis|substrate adhesion-dependent cell spreading	actin cytoskeleton|axon|cell junction|cytoplasm|dendrite|postsynaptic density|postsynaptic membrane	protein kinase binding	g.chr17:36708245C>A		CCDS45660.1	17q12	2009-12-14			ENSG00000017373	ENSG00000277363			29506	protein-coding gene	gene with protein product	"""p130Cas-associated protein"", ""SNAP-25-interacting protein"""	610786				11214970	Standard	NM_025248		Approved	SNIP, p140Cap, KIAA1684	uc002hqd.3	Q9C0H9		ENST00000264659.7:c.2604G>T	17.37:g.36708245C>A						SRCIN1_uc002hqf.1_Silent_p.P740P|SRCIN1_uc002hqe.2_Silent_p.P722P|SRCIN1_uc002hqg.2_Silent_p.P174P	p.P868P	NM_025248	NP_079524	Q9C0H9	SRCN1_HUMAN			14	2829	-			740					Q75T46|Q8N4W8	Silent	SNP	ENST00000264659.7	37	c.2604G>T	CCDS45660.1																																																																																				PASS	0.617	SRCIN1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000441878.4	NM_025248		27	84	27	84	---	---	---	---
KRT20	54474	broad.mit.edu	37	17	39038830	39038830	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2766-01A-01D-1522-08	TCGA-66-2766-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	452b75d0-1818-46aa-8804-9cfc0bd66449	81a4d615-e95e-4c17-87f7-c06d8dd4975a	g.chr17:39038830C>T	ENST00000167588.3	-	2	508	c.467G>A	c.(466-468)aGa>aAa	p.R156K		NM_019010.2	NP_061883.1	P35900	K1C20_HUMAN	keratin 20	156	Coil 1B.|Rod.				apoptotic process (GO:0006915)|cellular response to stress (GO:0033554)|intermediate filament organization (GO:0045109)|regulation of protein secretion (GO:0050708)	cytoplasm (GO:0005737)|intermediate filament (GO:0005882)	structural constituent of cytoskeleton (GO:0005200)	p.R156K(1)		NS(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|skin(1)	14		Breast(137;0.000301)|Ovarian(249;0.15)				CTACTTCAGTCTGAAGTCCTC	0.393																																						uc002hvl.2																			1	Substitution - Missense(1)		lung(1)	large_intestine(1)|kidney(1)|skin(1)	3						c.(466-468)AGA>AAA		keratin 20							118.0	108.0	111.0					17																	39038830		2203	4300	6503	SO:0001583	missense	54474				apoptosis|intermediate filament organization	Golgi apparatus|intermediate filament	protein binding|structural constituent of cytoskeleton	g.chr17:39038830C>T	BC031559	CCDS11379.1	17q21.2	2013-01-16			ENSG00000171431	ENSG00000171431		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	20412	protein-coding gene	gene with protein product		608218				8359595, 12515621, 16831889	Standard	NM_019010		Approved	CK20, K20, MGC35423	uc002hvl.3	P35900	OTTHUMG00000133366	ENST00000167588.3:c.467G>A	17.37:g.39038830C>T	ENSP00000167588:p.Arg156Lys						p.R156K	NM_019010	NP_061883	P35900	K1C20_HUMAN			2	509	-		Breast(137;0.000301)|Ovarian(249;0.15)	156			Coil 1B.|Rod.		B2R6W7	Missense_Mutation	SNP	ENST00000167588.3	37	c.467G>A	CCDS11379.1	.	.	.	.	.	.	.	.	.	.	C	16.28	3.079118	0.55753	.	.	ENSG00000171431	ENST00000167588	D	0.89050	-2.46	5.33	4.33	0.51752	Filament (1);	0.000000	0.64402	D	0.000011	D	0.84074	0.5392	L	0.41124	1.26	0.32489	N	0.540518	B	0.25441	0.126	B	0.30105	0.111	D	0.84637	0.0693	10	0.66056	D	0.02	.	9.3456	0.38107	0.0:0.8289:0.0:0.1711	.	156	P35900	K1C20_HUMAN	K	156	ENSP00000167588:R156K	ENSP00000167588:R156K	R	-	2	0	KRT20	36292356	0.028000	0.19301	0.986000	0.45419	0.957000	0.61999	0.333000	0.19768	1.181000	0.42912	0.557000	0.71058	AGA		PASS	0.393	KRT20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257202.2			83	110	83	110	---	---	---	---
KRT16	3868	broad.mit.edu	37	17	39768815	39768815	+	Silent	SNP	G	G	T			TCGA-66-2766-01A-01D-1522-08	TCGA-66-2766-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	452b75d0-1818-46aa-8804-9cfc0bd66449	81a4d615-e95e-4c17-87f7-c06d8dd4975a	g.chr17:39768815G>T	ENST00000301653.4	-	1	190	c.126C>A	c.(124-126)gcC>gcA	p.A42A		NM_005557.3	NP_005548.2	P08779	K1C16_HUMAN	keratin 16	42	Head.			RAP -> PA (in Ref. 1; AAA59460). {ECO:0000305}.	aging (GO:0007568)|cell proliferation (GO:0008283)|cytoskeleton organization (GO:0007010)|epidermis development (GO:0008544)|hair cycle (GO:0042633)|intermediate filament cytoskeleton organization (GO:0045104)|negative regulation of cell migration (GO:0030336)	cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	structural constituent of cytoskeleton (GO:0005200)	p.A42A(1)		NS(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23		Breast(137;0.000307)				AGGTGCTGGGGGCACGGCAGG	0.721																																						uc002hxg.3																			1	Substitution - coding silent(1)		lung(1)	skin(1)	1						c.(124-126)GCC>GCA		keratin 16							14.0	19.0	18.0					17																	39768815		2180	4258	6438	SO:0001819	synonymous_variant	3868				cell proliferation|epidermis development	intermediate filament	protein binding|structural constituent of cytoskeleton	g.chr17:39768815G>T	S79867	CCDS11401.1	17q21.2	2013-01-16	2008-08-01		ENSG00000186832	ENSG00000186832		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	6423	protein-coding gene	gene with protein product	"""focal non-epidermolytic palmoplantar keratoderma"""	148067				2451124, 16831889	Standard	NM_005557		Approved	NEPPK	uc002hxg.4	P08779	OTTHUMG00000133495	ENST00000301653.4:c.126C>A	17.37:g.39768815G>T						JUP_uc010wfs.1_Intron	p.A42A	NM_005557	NP_005548	P08779	K1C16_HUMAN			1	265	-		Breast(137;0.000307)	42	RAP -> PA (in Ref. 1; AAA59460).		Head.		A8K488|P30654|Q16402|Q9UBG8	Silent	SNP	ENST00000301653.4	37	c.126C>A	CCDS11401.1																																																																																				PASS	0.721	KRT16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257408.1	NM_005557		3	6	3	6	---	---	---	---
AOC3	8639	broad.mit.edu	37	17	41004563	41004563	+	Silent	SNP	G	G	T			TCGA-66-2766-01A-01D-1522-08	TCGA-66-2766-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	452b75d0-1818-46aa-8804-9cfc0bd66449	81a4d615-e95e-4c17-87f7-c06d8dd4975a	g.chr17:41004563G>T	ENST00000308423.2	+	1	1363	c.1203G>T	c.(1201-1203)ggG>ggT	p.G401G	AOC3_ENST00000591562.1_5'Flank	NM_003734.2	NP_003725.1	Q16853	AOC3_HUMAN	amine oxidase, copper containing 3	401					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.G401G(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)	TGACCCGTGGGGTGGACTGCC	0.567																																					NSCLC(3;192 220 10664 11501 16477)	uc002ibv.2																			1	Substitution - coding silent(1)		lung(1)	central_nervous_system(2)|ovary(1)|skin(1)	4						c.(1201-1203)GGG>GGT		amine oxidase, copper containing 3 precursor	Hydralazine(DB01275)|Phenelzine(DB00780)						79.0	68.0	72.0					17																	41004563		2203	4300	6503	SO:0001819	synonymous_variant	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.chr17:41004563G>T	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.1203G>T	17.37:g.41004563G>T							p.G401G	NM_003734	NP_003725	Q16853	AOC3_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.156)	1	1363	+		Breast(137;0.000143)	401			Extracellular (Potential).		B2RCI5|K7ESB3|L0L8N9|Q45F94	Silent	SNP	ENST00000308423.2	37	c.1203G>T	CCDS11444.1																																																																																				PASS	0.567	AOC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452444.1	NM_003734		57	86	57	86	---	---	---	---
DHX8	1659	broad.mit.edu	37	17	41577356	41577356	+	Missense_Mutation	SNP	G	G	C			TCGA-66-2766-01A-01D-1522-08	TCGA-66-2766-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	452b75d0-1818-46aa-8804-9cfc0bd66449	81a4d615-e95e-4c17-87f7-c06d8dd4975a	g.chr17:41577356G>C	ENST00000262415.3	+	11	1503	c.1431G>C	c.(1429-1431)atG>atC	p.M477I	DHX8_ENST00000540306.1_Missense_Mutation_p.M477I	NM_004941.1	NP_004932.1	Q14562	DHX8_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 8	477					ATP catabolic process (GO:0006200)|mRNA splicing, via spliceosome (GO:0000398)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)	catalytic step 2 spliceosome (GO:0071013)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)	p.M477I(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	42		Breast(137;0.00908)		BRCA - Breast invasive adenocarcinoma(366;0.08)		AAGCAGCAATGATGCAGAGTG	0.488																																					NSCLC(56;1548 1661 49258 49987)	uc002idu.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)|kidney(1)|pancreas(1)	4						c.(1429-1431)ATG>ATC		DEAH (Asp-Glu-Ala-His) box polypeptide 8							218.0	234.0	229.0					17																	41577356		2203	4300	6503	SO:0001583	missense	1659					catalytic step 2 spliceosome	ATP binding|ATP-dependent RNA helicase activity|protein binding|RNA binding	g.chr17:41577356G>C	D50487	CCDS11464.1	17q21.31	2005-08-19	2003-06-13	2003-06-20		ENSG00000067596		"""DEAH-boxes"""	2749	protein-coding gene	gene with protein product		600396	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 8 (RNA helicase)"""	DDX8		7935475	Standard	NM_004941		Approved	HRH1, PRP22, PRPF22	uc002idu.1	Q14562		ENST00000262415.3:c.1431G>C	17.37:g.41577356G>C	ENSP00000262415:p.Met477Ile					DHX8_uc010wif.1_Missense_Mutation_p.M386I|DHX8_uc010wig.1_Missense_Mutation_p.M477I	p.M477I	NM_004941	NP_004932	Q14562	DHX8_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.08)	11	1504	+		Breast(137;0.00908)	477						Missense_Mutation	SNP	ENST00000262415.3	37	c.1431G>C	CCDS11464.1	.	.	.	.	.	.	.	.	.	.	G	15.36	2.809339	0.50421	.	.	ENSG00000067596	ENST00000540306;ENST00000262415	T;T	0.03242	4.0;4.0	4.86	4.86	0.63082	.	0.229938	0.49305	D	0.000149	T	0.08492	0.0211	M	0.80616	2.505	0.80722	D	1	P;B	0.41947	0.766;0.066	B;B	0.39876	0.312;0.046	T	0.05194	-1.0900	10	0.44086	T	0.13	.	14.8796	0.70522	0.0:0.0:1.0:0.0	.	477;477	F5H658;Q14562	.;DHX8_HUMAN	I	477	ENSP00000437886:M477I;ENSP00000262415:M477I	ENSP00000262415:M477I	M	+	3	0	DHX8	38932882	1.000000	0.71417	1.000000	0.80357	0.669000	0.39330	9.657000	0.98554	2.526000	0.85167	0.561000	0.74099	ATG		PASS	0.488	DHX8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453485.1			168	565	168	565	---	---	---	---
SOST	50964	broad.mit.edu	37	17	41832873	41832873	+	Missense_Mutation	SNP	C	C	T	rs199579218		TCGA-66-2766-01A-01D-1522-08	TCGA-66-2766-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	452b75d0-1818-46aa-8804-9cfc0bd66449	81a4d615-e95e-4c17-87f7-c06d8dd4975a	g.chr17:41832873C>T	ENST00000301691.2	-	2	525	c.479G>A	c.(478-480)cGc>cAc	p.R160H		NM_025237.2	NP_079513.1	Q9BQB4	SOST_HUMAN	sclerostin	160	CTCK.				cellular response to parathyroid hormone stimulus (GO:0071374)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of ossification (GO:0030279)|negative regulation of protein complex assembly (GO:0031333)|negative regulation of Wnt signaling pathway involved in dorsal/ventral axis specification (GO:2000054)|ossification (GO:0001503)|positive regulation of transcription, DNA-templated (GO:0045893)|response to mechanical stimulus (GO:0009612)|Wnt signaling pathway (GO:0016055)	extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|proteinaceous extracellular matrix (GO:0005578)	heparin binding (GO:0008201)|transcription factor binding (GO:0008134)	p.R160H(1)		large_intestine(2)|lung(3)|prostate(1)	6		Breast(137;0.00725)		UCEC - Uterine corpus endometrioid carcinoma (308;0.177)|BRCA - Breast invasive adenocarcinoma(366;0.0741)		GGCCACCAGGCGCACCTTGCG	0.721																																						uc002iec.1																			1	Substitution - Missense(1)		lung(1)		0						c.(478-480)CGC>CAC		sclerostin precursor							14.0	17.0	16.0					17																	41832873		2110	4198	6308	SO:0001583	missense	50964				negative regulation of BMP signaling pathway|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of ossification|negative regulation of protein complex assembly|negative regulation of Wnt receptor signaling pathway involved in dorsal/ventral axis specification|Wnt receptor signaling pathway		heparin binding|protein binding	g.chr17:41832873C>T	AF326736	CCDS11468.1	17q12-q21	2014-06-28	2010-04-28			ENSG00000167941			13771	protein-coding gene	gene with protein product		605740	"""sclerosteosis"""			11179006, 11181578	Standard	NM_025237		Approved	VBCH	uc002iec.1	Q9BQB4		ENST00000301691.2:c.479G>A	17.37:g.41832873C>T	ENSP00000301691:p.Arg160His						p.R160H	NM_025237	NP_079513	Q9BQB4	SOST_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (308;0.177)|BRCA - Breast invasive adenocarcinoma(366;0.0741)	2	526	-		Breast(137;0.00725)	160			CTCK.		Q495N9	Missense_Mutation	SNP	ENST00000301691.2	37	c.479G>A	CCDS11468.1	.	.	.	.	.	.	.	.	.	.	C	27.4	4.828877	0.90955	.	.	ENSG00000167941	ENST00000301691	T	0.78246	-1.16	4.79	4.79	0.61399	.	0.000000	0.85682	D	0.000000	D	0.85128	0.5626	L	0.53249	1.67	0.80722	D	1	D	0.89917	1.0	D	0.76071	0.987	D	0.86066	0.1535	10	0.54805	T	0.06	-22.4995	16.0025	0.80306	0.0:1.0:0.0:0.0	.	160	Q9BQB4	SOST_HUMAN	H	160	ENSP00000301691:R160H	ENSP00000301691:R160H	R	-	2	0	SOST	39188399	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.644000	0.54381	2.208000	0.71279	0.655000	0.94253	CGC		PASS	0.721	SOST-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453502.1	NM_025237		12	42	12	42	---	---	---	---
TANC2	26115	broad.mit.edu	37	17	61492927	61492927	+	Nonsense_Mutation	SNP	C	C	A	rs191181540		TCGA-66-2766-01A-01D-1522-08	TCGA-66-2766-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	452b75d0-1818-46aa-8804-9cfc0bd66449	81a4d615-e95e-4c17-87f7-c06d8dd4975a	g.chr17:61492927C>A	ENST00000424789.2	+	23	3811	c.3807C>A	c.(3805-3807)taC>taA	p.Y1269*	AC015923.1_ENST00000431604.1_RNA|TANC2_ENST00000389520.4_Nonsense_Mutation_p.Y1279*|RP11-269G24.3_ENST00000583552.1_RNA	NM_025185.3	NP_079461.2	Q9HCD6	TANC2_HUMAN	tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 2	1269					in utero embryonic development (GO:0001701)			p.Y1279*(2)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|upper_aerodigestive_tract(3)	44						GCTACCAGTACGCCCTGAAGA	0.512																																						uc002jal.3																			2	Substitution - Nonsense(2)		lung(2)	ovary(2)	2						c.(3805-3807)TAC>TAA		tetratricopeptide repeat, ankyrin repeat and							88.0	86.0	87.0					17																	61492927		1931	4147	6078	SO:0001587	stop_gained	26115						binding	g.chr17:61492927C>A	AB032974	CCDS45754.1	17q23.3	2013-01-11				ENSG00000170921		"""Ankyrin repeat domain containing"", ""Tetratricopeptide (TTC) repeat domain containing"""	30212	protein-coding gene	gene with protein product	"""rolling pebbles homolog B (Drosophila)"""	615047					Standard	NM_025185		Approved	DKFZP564D166, FLJ10215, FLJ11824, KIAA1148, KIAA1636, rols, ROLSA	uc002jal.4	Q9HCD6		ENST00000424789.2:c.3807C>A	17.37:g.61492927C>A	ENSP00000387593:p.Tyr1269*					TANC2_uc010wpe.1_Nonsense_Mutation_p.Y1179*|TANC2_uc002jao.3_Nonsense_Mutation_p.Y380*	p.Y1269*	NM_025185	NP_079461	Q9HCD6	TANC2_HUMAN			23	3830	+			1269			TPR 1.		Q9HAC3|Q9NW88|Q9NXY9|Q9ULS2	Nonsense_Mutation	SNP	ENST00000424789.2	37	c.3807C>A	CCDS45754.1	.	.	.	.	.	.	.	.	.	.	C	39	7.398415	0.98258	.	.	ENSG00000170921	ENST00000389520;ENST00000424789	.	.	.	5.76	-2.33	0.06724	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	13.1945	0.59730	0.0:0.4259:0.0:0.5741	.	.	.	.	X	1279;1269	.	ENSP00000374171:Y1279X	Y	+	3	2	TANC2	58846659	0.211000	0.23529	0.994000	0.49952	0.994000	0.84299	-0.346000	0.07760	-0.206000	0.10203	-0.136000	0.14681	TAC		PASS	0.512	TANC2-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444765.1			41	42	41	42	---	---	---	---
MAP3K3	4215	broad.mit.edu	37	17	61767648	61767648	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2766-01A-01D-1522-08	TCGA-66-2766-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	452b75d0-1818-46aa-8804-9cfc0bd66449	81a4d615-e95e-4c17-87f7-c06d8dd4975a	g.chr17:61767648G>T	ENST00000361733.3	+	12	1408	c.1088G>T	c.(1087-1089)cGc>cTc	p.R363L	MAP3K3_ENST00000361357.3_Missense_Mutation_p.R394L|MAP3K3_ENST00000584573.1_Missense_Mutation_p.R390L|MAP3K3_ENST00000577395.1_Missense_Mutation_p.R359L|MAP3K3_ENST00000579585.1_Missense_Mutation_p.R394L	NM_002401.3	NP_002392.2	Q99759	M3K3_HUMAN	mitogen-activated protein kinase kinase kinase 3	363	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of MAPKK activity (GO:0000186)|intracellular signal transduction (GO:0035556)|MAPK cascade (GO:0000165)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|protein autophosphorylation (GO:0046777)	cytosol (GO:0005829)	ATP binding (GO:0005524)|MAP kinase kinase kinase activity (GO:0004709)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)	p.R363L(2)		breast(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	28						ATCAACTGGCGCCGGGGAAAG	0.517																																						uc002jbg.2																			2	Substitution - Missense(2)		lung(2)	lung(3)|upper_aerodigestive_tract(1)|large_intestine(1)|breast(1)	6						c.(1087-1089)CGC>CTC		mitogen-activated protein kinase kinase kinase 3							73.0	79.0	77.0					17																	61767648		2203	4300	6503	SO:0001583	missense	4215				MAPKKK cascade|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein autophosphorylation	cytosol	ATP binding|MAP kinase kinase kinase activity|metal ion binding|protein binding	g.chr17:61767648G>T	U78876	CCDS32701.1, CCDS32702.1	17q	2011-06-09				ENSG00000198909		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	6855	protein-coding gene	gene with protein product	"""MAP/ERK kinase kinase 3"", ""MAPK/ERK kinase kinase 3"""	602539		MEKK3		9006902	Standard	NM_002401		Approved	MAPKKK3	uc002jbf.3	Q99759		ENST00000361733.3:c.1088G>T	17.37:g.61767648G>T	ENSP00000354485:p.Arg363Leu					MAP3K3_uc002jbe.2_Missense_Mutation_p.R394L|MAP3K3_uc002jbf.2_Missense_Mutation_p.R394L|MAP3K3_uc002jbh.2_Missense_Mutation_p.R390L|MAP3K3_uc010wpo.1_Missense_Mutation_p.R278L|MAP3K3_uc010wpp.1_Missense_Mutation_p.R359L	p.R363L	NM_002401	NP_002392	Q99759	M3K3_HUMAN			12	1407	+			363			Protein kinase.		B2RCW2|D3DU15|Q5BKZ6|Q8N3I9	Missense_Mutation	SNP	ENST00000361733.3	37	c.1088G>T	CCDS32702.1	.	.	.	.	.	.	.	.	.	.	G	33	5.290811	0.95546	.	.	ENSG00000198909	ENST00000361357;ENST00000361733	T;T	0.66460	-0.21;-0.21	5.23	5.23	0.72850	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	0.85682	D	0.000000	T	0.79673	0.4486	L	0.53729	1.69	0.80722	D	1	D;D;P;P	0.76494	0.999;0.999;0.808;0.766	D;D;P;P	0.76575	0.988;0.982;0.474;0.493	T	0.81161	-0.1059	10	0.87932	D	0	.	19.1762	0.93603	0.0:0.0:1.0:0.0	.	359;331;363;394	Q1PBM3;Q96HN9;Q99759;Q99759-2	.;.;M3K3_HUMAN;.	L	394;363	ENSP00000354927:R394L;ENSP00000354485:R363L	ENSP00000354927:R394L	R	+	2	0	MAP3K3	59121380	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	8.062000	0.89475	2.608000	0.88229	0.561000	0.74099	CGC		PASS	0.517	MAP3K3-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000443867.1	NM_002401		4	233	4	233	---	---	---	---
ABCA10	10349	broad.mit.edu	37	17	67197667	67197667	+	Silent	SNP	T	T	C			TCGA-66-2766-01A-01D-1522-08	TCGA-66-2766-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	452b75d0-1818-46aa-8804-9cfc0bd66449	81a4d615-e95e-4c17-87f7-c06d8dd4975a	g.chr17:67197667T>C	ENST00000269081.4	-	11	2058	c.1149A>G	c.(1147-1149)ccA>ccG	p.P383P	ABCA10_ENST00000416101.2_Silent_p.P383P|ABCA10_ENST00000432313.2_Silent_p.P383P	NM_080282.3	NP_525021.3	Q8WWZ4	ABCAA_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 10	383					transport (GO:0006810)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)	p.P383P(1)		breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(34)|ovary(2)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	81	Breast(10;6.95e-12)					CATGGAATTCTGGAGACACCG	0.353																																						uc010dfa.1																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|central_nervous_system(1)|skin(1)	4						c.(1147-1149)CCA>CCG		ATP-binding cassette, sub-family A, member 10							86.0	88.0	87.0					17																	67197667		2203	4298	6501	SO:0001819	synonymous_variant	10349				transport	integral to membrane	ATP binding|ATPase activity	g.chr17:67197667T>C	AY247065	CCDS11684.1	17q24	2012-03-14			ENSG00000154263	ENSG00000154263		"""ATP binding cassette transporters / subfamily A"""	30	protein-coding gene	gene with protein product		612508				12821155, 11435397	Standard	NM_080282		Approved	EST698739	uc010dfa.1	Q8WWZ4	OTTHUMG00000164716	ENST00000269081.4:c.1149A>G	17.37:g.67197667T>C						ABCA10_uc010wqt.1_RNA|ABCA10_uc010dfb.1_5'UTR|ABCA10_uc010dfc.1_Intron	p.P383P	NM_080282	NP_525021	Q8WWZ4	ABCAA_HUMAN			11	2028	-	Breast(10;6.95e-12)		383					C9JZH2|C9K035|Q6PIQ6|Q7Z2I9|Q7Z7P7|Q86TD2	Silent	SNP	ENST00000269081.4	37	c.1149A>G	CCDS11684.1																																																																																				PASS	0.353	ABCA10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379881.4	NM_080282		58	60	58	60	---	---	---	---
GPR142	350383	broad.mit.edu	37	17	72368690	72368690	+	Missense_Mutation	SNP	C	C	A	rs544945480		TCGA-66-2766-01A-01D-1522-08	TCGA-66-2766-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	452b75d0-1818-46aa-8804-9cfc0bd66449	81a4d615-e95e-4c17-87f7-c06d8dd4975a	g.chr17:72368690C>A	ENST00000335666.4	+	4	1388	c.1340C>A	c.(1339-1341)gCg>gAg	p.A447E		NM_181790.1	NP_861455.1	Q7Z601	GP142_HUMAN	G protein-coupled receptor 142	447						cell junction (GO:0030054)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.A447E(1)		central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(21)|ovary(2)|prostate(1)|skin(4)	35						GGCATGGCGGCGAAGCCTGTG	0.617																																						uc010wqy.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)|central_nervous_system(1)|skin(1)	4						c.(1339-1341)GCG>GAG		G protein-coupled receptor 142							28.0	27.0	28.0					17																	72368690		2198	4298	6496	SO:0001583	missense	350383					cell junction|cytoplasm|integral to membrane	G-protein coupled receptor activity	g.chr17:72368690C>A	AY255622	CCDS11698.1	17q25.2	2012-08-21				ENSG00000257008		"""GPCR / Class A : Orphans"""	20088	protein-coding gene	gene with protein product		609046				14623098	Standard	NM_181790		Approved	PGR2	uc010wqy.2	Q7Z601		ENST00000335666.4:c.1340C>A	17.37:g.72368690C>A	ENSP00000335158:p.Ala447Glu					GPR142_uc010wqx.1_Missense_Mutation_p.A359E	p.A447E	NM_181790	NP_861455	Q7Z601	GP142_HUMAN			4	1340	+			447			Cytoplasmic (Potential).		A4CYJ8|Q86SL3	Missense_Mutation	SNP	ENST00000335666.4	37	c.1340C>A	CCDS11698.1	.	.	.	.	.	.	.	.	.	.	C	8.288	0.817126	0.16607	.	.	ENSG00000257008	ENST00000335666	T	0.69685	-0.42	4.62	-9.23	0.00672	.	1.668210	0.03974	N	0.292270	T	0.47488	0.1448	N	0.24115	0.695	0.09310	N	1	B;B	0.11235	0.004;0.002	B;B	0.11329	0.006;0.004	T	0.55218	-0.8175	10	0.02654	T	1	0.2383	16.5104	0.84283	0.0882:0.6856:0.0:0.2262	.	447;1409	Q7Z601;Q8NGB0	GP142_HUMAN;.	E	447	ENSP00000335158:A447E	ENSP00000335158:A447E	A	+	2	0	GPR142	69880285	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-2.636000	0.00867	-3.486000	0.00154	-1.060000	0.02296	GCG		PASS	0.617	GPR142-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442545.1	NM_181790		5	39	5	39	---	---	---	---
USP36	57602	broad.mit.edu	37	17	76817074	76817074	+	Splice_Site	SNP	C	C	A			TCGA-66-2766-01A-01D-1522-08	TCGA-66-2766-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	452b75d0-1818-46aa-8804-9cfc0bd66449	81a4d615-e95e-4c17-87f7-c06d8dd4975a	g.chr17:76817074C>A	ENST00000542802.3	-	8	1270	c.827G>T	c.(826-828)cGg>cTg	p.R276L	USP36_ENST00000449938.2_5'UTR|USP36_ENST00000312010.6_Splice_Site_p.R276L|USP36_ENST00000588467.1_5'Flank			Q9P275	UBP36_HUMAN	ubiquitin specific peptidase 36	276	USP.				protein deubiquitination (GO:0016579)|ubiquitin-dependent protein catabolic process (GO:0006511)	nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|ubiquitin-specific protease activity (GO:0004843)	p.R276L(2)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(12)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	34			BRCA - Breast invasive adenocarcinoma(99;0.000842)|OV - Ovarian serous cystadenocarcinoma(97;0.151)			GATCTGTACCCGGATCTCCAG	0.547																																						uc002jvz.1																			2	Substitution - Missense(2)		lung(2)	lung(2)|ovary(1)|breast(1)|kidney(1)	5						c.(826-828)CGG>CTG		ubiquitin specific peptidase 36							63.0	47.0	52.0					17																	76817074		2203	4300	6503	SO:0001630	splice_region_variant	57602				ubiquitin-dependent protein catabolic process	nucleolus	cysteine-type peptidase activity|ubiquitin thiolesterase activity	g.chr17:76817074C>A	AB040886	CCDS32755.1	17q25.3	2008-02-05	2005-08-08			ENSG00000055483		"""Ubiquitin-specific peptidases"""	20062	protein-coding gene	gene with protein product		612543	"""ubiquitin specific protease 36"""			12838346	Standard	NM_025090		Approved	KIAA1453, FLJ12851	uc002jvz.1	Q9P275		ENST00000542802.3:c.828+1G>T	17.37:g.76817074C>A						USP36_uc002jwa.1_Missense_Mutation_p.R276L|USP36_uc002jwc.1_5'UTR	p.R276L	NM_025090	NP_079366	Q9P275	UBP36_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.000842)|OV - Ovarian serous cystadenocarcinoma(97;0.151)		8	1152	-			276					Q05C98|Q05DD0|Q6IQ38|Q8NDM8|Q9NVC8	Missense_Mutation	SNP	ENST00000542802.3	37	c.827G>T	CCDS32755.1	.	.	.	.	.	.	.	.	.	.	C	29.9	5.045809	0.93685	.	.	ENSG00000055483	ENST00000312010;ENST00000542802;ENST00000432878	T;T	0.05199	3.48;3.48	5.13	5.13	0.70059	.	0.000000	0.85682	D	0.000000	T	0.19765	0.0475	L	0.42686	1.345	0.80722	D	1	D	0.89917	1.0	D	0.77557	0.99	T	0.00414	-1.1754	10	0.66056	D	0.02	-26.3933	18.1693	0.89740	0.0:1.0:0.0:0.0	.	276	Q9P275-2	.	L	276	ENSP00000310590:R276L;ENSP00000441214:R276L	ENSP00000310590:R276L	R	-	2	0	USP36	74328669	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	2.833000	0.48159	2.383000	0.81215	0.655000	0.94253	CGG		PASS	0.547	USP36-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437472.3	NM_025090	Missense_Mutation	14	12	14	12	---	---	---	---
EPB41L3	23136	broad.mit.edu	37	18	5394784	5394784	+	Silent	SNP	A	A	C			TCGA-66-2766-01A-01D-1522-08	TCGA-66-2766-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	452b75d0-1818-46aa-8804-9cfc0bd66449	81a4d615-e95e-4c17-87f7-c06d8dd4975a	g.chr18:5394784A>C	ENST00000341928.2	-	22	3502	c.3162T>G	c.(3160-3162)gcT>gcG	p.A1054A	EPB41L3_ENST00000427684.2_Silent_p.A351A|EPB41L3_ENST00000540638.2_Silent_p.A832A|EPB41L3_ENST00000342933.3_Silent_p.A1054A|EPB41L3_ENST00000542652.2_5'UTR|EPB41L3_ENST00000544123.1_Intron|EPB41L3_ENST00000542146.1_Silent_p.A359A|EPB41L3_ENST00000400111.3_Silent_p.A832A	NM_012307.2	NP_036439.2	Q9Y2J2	E41L3_HUMAN	erythrocyte membrane protein band 4.1-like 3	1054	C-terminal (CTD).				apoptotic process (GO:0006915)|cortical actin cytoskeleton organization (GO:0030866)|cortical cytoskeleton organization (GO:0030865)|cytoskeletal anchoring at plasma membrane (GO:0007016)|myelin maintenance (GO:0043217)|neuron projection morphogenesis (GO:0048812)|paranodal junction assembly (GO:0030913)|protein localization to juxtaparanode region of axon (GO:0071205)|protein localization to paranode region of axon (GO:0002175)|protein localization to plasma membrane (GO:0072659)|regulation of cell shape (GO:0008360)	axolemma (GO:0030673)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extrinsic component of membrane (GO:0019898)|juxtaparanode region of axon (GO:0044224)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)	structural constituent of cytoskeleton (GO:0005200)	p.A1054A(1)		breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(52)|ovary(5)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	105						TAATTGCCTGAGCCAGCGCCT	0.483																																						uc002kmt.1																			1	Substitution - coding silent(1)		lung(1)	ovary(5)	5						c.(3160-3162)GCT>GCG		erythrocyte membrane protein band 4.1-like 3							145.0	124.0	131.0					18																	5394784		2203	4300	6503	SO:0001819	synonymous_variant	23136				cortical actin cytoskeleton organization	cell-cell junction|cytoplasm|cytoskeleton|extrinsic to membrane	actin binding|structural molecule activity	g.chr18:5394784A>C	AB023204	CCDS11838.1, CCDS62381.1, CCDS62382.1	18p11.32	2006-06-28			ENSG00000082397	ENSG00000082397			3380	protein-coding gene	gene with protein product		605331				9828140, 9892180	Standard	NM_012307		Approved	DAL1, KIAA0987, 4.1B	uc002kmt.1	Q9Y2J2	OTTHUMG00000131562	ENST00000341928.2:c.3162T>G	18.37:g.5394784A>C						EPB41L3_uc010wzh.1_Intron|EPB41L3_uc002kmu.1_Silent_p.A832A|EPB41L3_uc010dkq.1_Silent_p.A723A|EPB41L3_uc002kms.1_Silent_p.A289A|EPB41L3_uc010wze.1_Silent_p.A359A|EPB41L3_uc010wzf.1_Silent_p.A351A|EPB41L3_uc010wzg.1_Silent_p.A326A|EPB41L3_uc010dkr.2_Silent_p.A446A	p.A1054A	NM_012307	NP_036439	Q9Y2J2	E41L3_HUMAN			22	3248	-			1054			Carboxyl-terminal (CTD).		B7Z4I5|F5GX05|O95713|Q9BRP5	Silent	SNP	ENST00000341928.2	37	c.3162T>G	CCDS11838.1																																																																																				PASS	0.483	EPB41L3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254424.1	NM_012307		64	32	64	32	---	---	---	---
CEP192	55125	broad.mit.edu	37	18	13049582	13049582	+	Missense_Mutation	SNP	G	G	C			TCGA-66-2766-01A-01D-1522-08	TCGA-66-2766-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	452b75d0-1818-46aa-8804-9cfc0bd66449	81a4d615-e95e-4c17-87f7-c06d8dd4975a	g.chr18:13049582G>C	ENST00000325971.8	+	14	2597	c.1004G>C	c.(1003-1005)aGa>aCa	p.R335T	CEP192_ENST00000430049.2_Missense_Mutation_p.R456T|CEP192_ENST00000506447.1_Missense_Mutation_p.R931T			Q8TEP8	CE192_HUMAN	centrosomal protein 192kDa	335					centrosome duplication (GO:0051298)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|negative regulation of phosphatase activity (GO:0010923)|spindle assembly (GO:0051225)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)	phosphatase binding (GO:0019902)	p.R931T(1)|p.R335T(1)		NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(36)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						CGAGATAACAGAGAAAATCAG	0.383																																						uc010xac.1																			2	Substitution - Missense(2)		lung(2)	ovary(4)|pancreas(1)	5						c.(2791-2793)AGA>ACA		centrosomal protein 192kDa							112.0	117.0	115.0					18																	13049582		2202	4298	6500	SO:0001583	missense	55125							g.chr18:13049582G>C	AK074074	CCDS32792.1, CCDS32792.2	18p11.21	2014-02-20				ENSG00000101639		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	25515	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 62"""					11230166, 14654843	Standard	NM_032142		Approved	KIAA1569, FLJ10352, PPP1R62	uc010xac.2	Q8TEP8		ENST00000325971.8:c.1004G>C	18.37:g.13049582G>C	ENSP00000317156:p.Arg335Thr					CEP192_uc010dlf.1_RNA|CEP192_uc010xad.1_Missense_Mutation_p.R456T|CEP192_uc002kru.2_RNA|CEP192_uc002krs.1_Missense_Mutation_p.R672T	p.R931T	NM_032142	NP_115518	E9PF99	E9PF99_HUMAN			16	2872	+			931					A0A060A9S4|E9PF99|Q8WYT8|Q9H0F4|Q9NW27	Missense_Mutation	SNP	ENST00000325971.8	37	c.2792G>C		.	.	.	.	.	.	.	.	.	.	G	1.254	-0.617674	0.03663	.	.	ENSG00000101639	ENST00000506447;ENST00000325971;ENST00000399863;ENST00000430049	D;D;D	0.82803	-1.65;-1.65;-1.65	5.29	2.1	0.27182	.	0.799843	0.11157	N	0.593484	T	0.70263	0.3204	L	0.44542	1.39	0.09310	N	1	B;B;B	0.13145	0.007;0.007;0.007	B;B;B	0.15052	0.003;0.005;0.012	T	0.50980	-0.8763	10	0.12430	T	0.62	-0.0463	1.5625	0.02598	0.2135:0.168:0.4639:0.1546	.	456;931;335	C9JT09;E9PF99;Q8TEP8	.;.;CE192_HUMAN	T	931;335;335;456	ENSP00000427550:R931T;ENSP00000317156:R335T;ENSP00000389190:R456T	ENSP00000317156:R335T	R	+	2	0	CEP192	13039582	0.014000	0.17966	0.003000	0.11579	0.014000	0.08584	0.608000	0.24223	0.168000	0.19655	0.650000	0.86243	AGA		PASS	0.383	CEP192-201	KNOWN	basic	protein_coding	protein_coding		NM_032142		123	36	123	36	---	---	---	---
MC2R	4158	broad.mit.edu	37	18	13884819	13884819	+	Silent	SNP	G	G	T			TCGA-66-2766-01A-01D-1522-08	TCGA-66-2766-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	452b75d0-1818-46aa-8804-9cfc0bd66449	81a4d615-e95e-4c17-87f7-c06d8dd4975a	g.chr18:13884819G>T	ENST00000327606.3	-	2	879	c.699C>A	c.(697-699)gcC>gcA	p.A233A		NM_000529.2	NP_000520.1	Q01718	ACTHR_HUMAN	melanocortin 2 receptor (adrenocorticotropic hormone)	233					G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|neuropeptide signaling pathway (GO:0007218)|placenta development (GO:0001890)|positive regulation of cAMP biosynthetic process (GO:0030819)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	corticotropin receptor activity (GO:0004978)|melanocortin receptor activity (GO:0004977)	p.A233A(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(10)|lung(8)|ovary(4)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30					Corticotropin(DB01285)|Cosyntropin(DB01284)	GCACAAAGGGGGCCCAGCAGA	0.547																																					Colon(141;1584 1782 35999 48227 48692)	uc002ksp.1																			1	Substitution - coding silent(1)		lung(1)	ovary(4)|skin(1)	5						c.(697-699)GCC>GCA		melanocortin 2 receptor	Corticotropin(DB01285)|Cosyntropin(DB01284)						77.0	69.0	72.0					18																	13884819		2203	4300	6503	SO:0001819	synonymous_variant	4158				G-protein signaling, coupled to cyclic nucleotide second messenger|positive regulation of cAMP biosynthetic process	integral to plasma membrane	corticotropin receptor activity|protein binding	g.chr18:13884819G>T		CCDS11869.1	18p11.2	2012-08-10			ENSG00000185231	ENSG00000185231		"""GPCR / Class A : Melanocortin receptors"""	6930	protein-coding gene	gene with protein product		607397				8390157	Standard	NM_001291911		Approved	ACTHR	uc002ksp.1	Q01718	OTTHUMG00000131721	ENST00000327606.3:c.699C>A	18.37:g.13884819G>T							p.A233A	NM_000529	NP_000520	Q01718	ACTHR_HUMAN			2	876	-			233			Helical; Name=6; (By similarity).		A8K016|Q3MI45|Q504X6	Silent	SNP	ENST00000327606.3	37	c.699C>A	CCDS11869.1																																																																																				PASS	0.547	MC2R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254639.2			71	22	71	22	---	---	---	---
LAMA3	3909	broad.mit.edu	37	18	21501541	21501541	+	Silent	SNP	C	C	T			TCGA-66-2766-01A-01D-1522-08	TCGA-66-2766-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	452b75d0-1818-46aa-8804-9cfc0bd66449	81a4d615-e95e-4c17-87f7-c06d8dd4975a	g.chr18:21501541C>T	ENST00000313654.9	+	62	8410	c.8169C>T	c.(8167-8169)atC>atT	p.I2723I	LAMA3_ENST00000269217.6_Silent_p.I1114I|LAMA3_ENST00000588770.1_3'UTR|LAMA3_ENST00000399516.3_Silent_p.I2667I|LAMA3_ENST00000587184.1_Silent_p.I1058I	NM_198129.1	NP_937762.1	Q16787	LAMA3_HUMAN	laminin, alpha 3	2723	Laminin G-like 2. {ECO:0000255|PROSITE- ProRule:PRU00122}.				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)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|laminin-5 complex (GO:0005610)	structural molecule activity (GO:0005198)	p.I2723I(1)|p.I1114I(1)		NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4)	128	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)					CAATTGCAATCAGGGAAAGGT	0.333																																						uc002kuq.2																			2	Substitution - coding silent(2)		lung(2)	ovary(8)|skin(2)|central_nervous_system(1)	11						c.(8167-8169)ATC>ATT		laminin alpha 3 subunit isoform 1	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)						117.0	122.0	121.0					18																	21501541		2203	4300	6503	SO:0001819	synonymous_variant	3909				cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity	g.chr18:21501541C>T	L34155	CCDS11880.1, CCDS42419.1, CCDS45838.1, CCDS59307.1	18q11.2	2013-03-01	2002-08-29		ENSG00000053747	ENSG00000053747		"""Laminins"""	6483	protein-coding gene	gene with protein product		600805	"""laminin, alpha 3 (nicein (150kD), kalinin (165kD), BM600 (150kD), epilegrin)"""	LAMNA		8077230	Standard	NM_000227		Approved	nicein-150kDa, kalinin-165kDa, BM600-150kDa, epiligrin	uc002kuq.3	Q16787	OTTHUMG00000131874	ENST00000313654.9:c.8169C>T	18.37:g.21501541C>T						LAMA3_uc002kur.2_Silent_p.I2667I|LAMA3_uc002kus.3_Silent_p.I1114I|LAMA3_uc002kut.3_Silent_p.I1058I	p.I2723I	NM_198129	NP_937762	Q16787	LAMA3_HUMAN			62	8255	+	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)		2723			Laminin G-like 2.		B0YJ33|Q13679|Q13680|Q6VU67|Q6VU68|Q6VU69|Q76E14|Q96TG0	Silent	SNP	ENST00000313654.9	37	c.8169C>T	CCDS42419.1																																																																																				PASS	0.333	LAMA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254824.3	NM_000227, NM_198129		68	659	68	659	---	---	---	---
CCDC102B	79839	broad.mit.edu	37	18	66504591	66504591	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2766-01A-01D-1522-08	TCGA-66-2766-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	452b75d0-1818-46aa-8804-9cfc0bd66449	81a4d615-e95e-4c17-87f7-c06d8dd4975a	g.chr18:66504591G>T	ENST00000360242.5	+	2	708	c.591G>T	c.(589-591)gaG>gaT	p.E197D	CCDC102B_ENST00000358653.5_Missense_Mutation_p.E197D|CCDC102B_ENST00000577772.1_3'UTR|CCDC102B_ENST00000319445.6_Missense_Mutation_p.E197D|CCDC102B_ENST00000584156.1_Missense_Mutation_p.E197D	NM_024781.2	NP_079057	Q68D86	C102B_HUMAN	coiled-coil domain containing 102B	197								p.E197D(1)		breast(2)|endometrium(3)|large_intestine(5)|lung(19)|ovary(1)|skin(5)|stomach(1)	36		Esophageal squamous(42;0.0559)|Colorectal(73;0.0604)				CTACAAAGGAGGACACAAATA	0.348																																						uc002lkk.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|lung(1)|skin(1)	3						c.(589-591)GAG>GAT		coiled-coil domain containing 102B							82.0	82.0	82.0					18																	66504591		1820	4072	5892	SO:0001583	missense	79839							g.chr18:66504591G>T	AK027247	CCDS11996.2	18q22.1	2007-11-14	2006-04-10	2006-04-10	ENSG00000150636	ENSG00000150636			26295	protein-coding gene	gene with protein product			"""chromosome 18 open reading frame 14"", ""aminoacylase 1-like"""	C18orf14, ACY1L		14702039	Standard	NM_001093729		Approved	FLJ23594, HsT1731, AN	uc002lkk.2	Q68D86	OTTHUMG00000132808	ENST00000360242.5:c.591G>T	18.37:g.66504591G>T	ENSP00000353377:p.Glu197Asp					CCDC102B_uc002lki.2_Missense_Mutation_p.E197D|CCDC102B_uc002lkj.1_Missense_Mutation_p.E197D	p.E197D	NM_001093729	NP_001087198	Q68D86	C102B_HUMAN			4	814	+		Esophageal squamous(42;0.0559)|Colorectal(73;0.0604)	197					Q7Z467|Q8NDK7|Q9H5C1	Missense_Mutation	SNP	ENST00000360242.5	37	c.591G>T	CCDS11996.2	.	.	.	.	.	.	.	.	.	.	G	6.518	0.463826	0.12402	.	.	ENSG00000150636	ENST00000319445;ENST00000358653;ENST00000360242	T;T;T	0.55588	0.51;0.51;0.51	4.69	-1.91	0.07641	.	0.261790	0.27012	N	0.021365	T	0.34395	0.0896	L	0.43152	1.355	0.09310	N	1	B;B	0.23540	0.087;0.087	B;B	0.25759	0.063;0.063	T	0.14448	-1.0472	10	0.21540	T	0.41	-2.6384	4.5517	0.12116	0.4384:0.3194:0.2422:0.0	.	197;197	Q68D86-3;Q68D86	.;C102B_HUMAN	D	197	ENSP00000316237:E197D;ENSP00000351479:E197D;ENSP00000353377:E197D	ENSP00000316237:E197D	E	+	3	2	CCDC102B	64655571	0.015000	0.18098	0.000000	0.03702	0.004000	0.04260	0.330000	0.19715	-0.267000	0.09325	-0.484000	0.04775	GAG		PASS	0.348	CCDC102B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256225.2	NM_024781		101	42	101	42	---	---	---	---
CCDC102B	79839	broad.mit.edu	37	18	66678241	66678241	+	Missense_Mutation	SNP	C	C	G	rs200588508		TCGA-66-2766-01A-01D-1522-08	TCGA-66-2766-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	452b75d0-1818-46aa-8804-9cfc0bd66449	81a4d615-e95e-4c17-87f7-c06d8dd4975a	g.chr18:66678241C>G	ENST00000360242.5	+	7	1451	c.1334C>G	c.(1333-1335)aCt>aGt	p.T445S	CCDC102B_ENST00000319445.6_Missense_Mutation_p.T445S|CCDC102B_ENST00000584156.1_Missense_Mutation_p.T445S	NM_024781.2	NP_079057	Q68D86	C102B_HUMAN	coiled-coil domain containing 102B	445								p.T445S(1)		breast(2)|endometrium(3)|large_intestine(5)|lung(19)|ovary(1)|skin(5)|stomach(1)	36		Esophageal squamous(42;0.0559)|Colorectal(73;0.0604)				GCAGAACTGACTCATGCAAAC	0.348																																						uc002lkk.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|lung(1)|skin(1)	3						c.(1333-1335)ACT>AGT		coiled-coil domain containing 102B							102.0	96.0	98.0					18																	66678241		2203	4300	6503	SO:0001583	missense	79839							g.chr18:66678241C>G	AK027247	CCDS11996.2	18q22.1	2007-11-14	2006-04-10	2006-04-10	ENSG00000150636	ENSG00000150636			26295	protein-coding gene	gene with protein product			"""chromosome 18 open reading frame 14"", ""aminoacylase 1-like"""	C18orf14, ACY1L		14702039	Standard	NM_001093729		Approved	FLJ23594, HsT1731, AN	uc002lkk.2	Q68D86	OTTHUMG00000132808	ENST00000360242.5:c.1334C>G	18.37:g.66678241C>G	ENSP00000353377:p.Thr445Ser					CCDC102B_uc002lki.2_Missense_Mutation_p.T445S	p.T445S	NM_001093729	NP_001087198	Q68D86	C102B_HUMAN			9	1557	+		Esophageal squamous(42;0.0559)|Colorectal(73;0.0604)	445			Potential.		Q7Z467|Q8NDK7|Q9H5C1	Missense_Mutation	SNP	ENST00000360242.5	37	c.1334C>G	CCDS11996.2	.	.	.	.	.	.	.	.	.	.	C	6.700	0.497790	0.12762	.	.	ENSG00000150636	ENST00000319445;ENST00000360242	T;T	0.10763	2.84;2.84	5.41	0.953	0.19590	.	0.743446	0.12090	N	0.500504	T	0.04724	0.0128	N	0.12569	0.235	0.35209	D	0.775015	P	0.42296	0.775	B	0.39660	0.306	T	0.47799	-0.9089	10	0.19590	T	0.45	-1.5958	2.697	0.05137	0.2067:0.4207:0.0:0.3727	.	445	Q68D86	C102B_HUMAN	S	445	ENSP00000316237:T445S;ENSP00000353377:T445S	ENSP00000316237:T445S	T	+	2	0	CCDC102B	64829221	0.019000	0.18553	0.009000	0.14445	0.585000	0.36419	0.084000	0.14891	0.250000	0.21479	0.655000	0.94253	ACT		PASS	0.348	CCDC102B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256225.2	NM_024781		46	15	46	15	---	---	---	---
ACER1	125981	broad.mit.edu	37	19	6309832	6309832	+	Missense_Mutation	SNP	G	G	A			TCGA-66-2766-01A-01D-1522-08	TCGA-66-2766-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	452b75d0-1818-46aa-8804-9cfc0bd66449	81a4d615-e95e-4c17-87f7-c06d8dd4975a	g.chr19:6309832G>A	ENST00000301452.4	-	4	441	c.364C>T	c.(364-366)Cgc>Tgc	p.R122C		NM_133492.2	NP_597999.1	Q8TDN7	ACER1_HUMAN	alkaline ceramidase 1	122					cell differentiation (GO:0030154)|cellular response to calcium ion (GO:0071277)|ceramide catabolic process (GO:0046514)|epidermis development (GO:0008544)|keratinocyte differentiation (GO:0030216)|regulation of lipid metabolic process (GO:0019216)|response to alkaline pH (GO:0010446)|small molecule metabolic process (GO:0044281)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)|sphingosine biosynthetic process (GO:0046512)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	ceramidase activity (GO:0017040)|dihydroceramidase activity (GO:0071633)	p.R122C(1)		NS(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(4)|pancreas(1)	15						AAGACCAGGCGGATGAACTGG	0.612																																						uc002mel.2																			1	Substitution - Missense(1)		lung(1)		0						c.(364-366)CGC>TGC		alkaline ceramidase 1							100.0	74.0	83.0					19																	6309832		2203	4300	6503	SO:0001583	missense	125981					endoplasmic reticulum membrane|integral to membrane	ceramidase activity	g.chr19:6309832G>A	AF347024	CCDS12161.1	19p13.3	2013-01-25	2008-12-19	2008-12-19	ENSG00000167769	ENSG00000167769	3.5.1.23	"""Alkaline ceramidase"""	18356	protein-coding gene	gene with protein product		613491	"""N-acylsphingosine amidohydrolase (alkaline ceramidase) 3"""	ASAH3		12783875	Standard	NM_133492		Approved		uc002mel.2	Q8TDN7		ENST00000301452.4:c.364C>T	19.37:g.6309832G>A	ENSP00000301452:p.Arg122Cys						p.R122C	NM_133492	NP_597999	Q8TDN7	ACER1_HUMAN			4	442	-			122			Helical; (Potential).			Missense_Mutation	SNP	ENST00000301452.4	37	c.364C>T	CCDS12161.1	.	.	.	.	.	.	.	.	.	.	G	5.500	0.277288	0.10403	.	.	ENSG00000167769	ENST00000301452	T	0.42131	0.98	4.28	-4.49	0.03504	.	1.123250	0.06449	N	0.727333	T	0.16342	0.0393	N	0.03281	-0.365	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.14144	-1.0483	10	0.32370	T	0.25	-7.9971	4.1277	0.10134	0.2788:0.0:0.4098:0.3115	.	122	Q8TDN7	ACER1_HUMAN	C	122	ENSP00000301452:R122C	ENSP00000301452:R122C	R	-	1	0	ACER1	6260832	0.000000	0.05858	0.000000	0.03702	0.023000	0.10783	-0.562000	0.05950	-1.102000	0.03023	-0.507000	0.04495	CGC		PASS	0.612	ACER1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452982.1	NM_133492		26	60	26	60	---	---	---	---
CERS4	79603	broad.mit.edu	37	19	8322848	8322848	+	Missense_Mutation	SNP	G	G	A			TCGA-66-2766-01A-01D-1522-08	TCGA-66-2766-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	452b75d0-1818-46aa-8804-9cfc0bd66449	81a4d615-e95e-4c17-87f7-c06d8dd4975a	g.chr19:8322848G>A	ENST00000251363.5	+	10	1127	c.827G>A	c.(826-828)cGa>cAa	p.R276Q	CERS4_ENST00000558331.1_Missense_Mutation_p.R225Q|CERS4_ENST00000559450.1_Missense_Mutation_p.R276Q|CERS4_ENST00000595722.1_3'UTR|CERS4_ENST00000559336.1_Intron	NM_024552.2	NP_078828.2	Q9HA82	CERS4_HUMAN	ceramide synthase 4	276	TLC. {ECO:0000255|PROSITE- ProRule:PRU00205}.				ceramide biosynthetic process (GO:0046513)|small molecule metabolic process (GO:0044281)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sphingosine N-acyltransferase activity (GO:0050291)	p.R276Q(1)									TTCTACACCCGACTGGTCCTC	0.562																																						uc002mjg.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(826-828)CGA>CAA		LAG1 homolog, ceramide synthase 4							256.0	203.0	221.0					19																	8322848		2203	4300	6503	SO:0001583	missense	79603					endoplasmic reticulum membrane|integral to membrane|nuclear membrane	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|sphingosine N-acyltransferase activity	g.chr19:8322848G>A		CCDS12197.1	19p13.2	2014-09-11	2011-07-08	2011-07-08	ENSG00000090661	ENSG00000090661		"""Homeoboxes / CERS class"""	23747	protein-coding gene	gene with protein product		615334	"""LAG1 longevity assurance homolog 4 (S. cerevisiae)"", ""LAG1 homolog, ceramide synthase 4"""	LASS4			Standard	NM_024552		Approved	FLJ12089, Trh1	uc002mjg.3	Q9HA82	OTTHUMG00000172570	ENST00000251363.5:c.827G>A	19.37:g.8322848G>A	ENSP00000251363:p.Arg276Gln					LASS4_uc002mjh.2_Missense_Mutation_p.R225Q|LASS4_uc002mji.2_Missense_Mutation_p.R112Q|LASS4_uc010dvz.2_Intron	p.R276Q	NM_024552	NP_078828	Q9HA82	CERS4_HUMAN			10	1147	+			276			TLC.|Helical; (Potential).		D6W665	Missense_Mutation	SNP	ENST00000251363.5	37	c.827G>A	CCDS12197.1	.	.	.	.	.	.	.	.	.	.	G	23.8	4.458245	0.84317	.	.	ENSG00000090661	ENST00000251363	D	0.99760	-6.66	4.77	4.77	0.60923	TRAM/LAG1/CLN8 homology domain (3);	0.000000	0.85682	D	0.000000	D	0.99866	0.9937	H	0.97491	4.015	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.96396	0.9293	10	0.87932	D	0	-36.9269	15.6447	0.77039	0.0:0.0:1.0:0.0	.	276	Q9HA82	CERS4_HUMAN	Q	276	ENSP00000251363:R276Q	ENSP00000251363:R276Q	R	+	2	0	CERS4	8228848	1.000000	0.71417	0.983000	0.44433	0.430000	0.31655	8.130000	0.89598	2.349000	0.79799	0.561000	0.74099	CGA		PASS	0.562	CERS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419200.1	NM_024552		64	238	64	238	---	---	---	---
MUC16	94025	broad.mit.edu	37	19	8994501	8994501	+	Silent	SNP	G	G	A			TCGA-66-2766-01A-01D-1522-08	TCGA-66-2766-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	452b75d0-1818-46aa-8804-9cfc0bd66449	81a4d615-e95e-4c17-87f7-c06d8dd4975a	g.chr19:8994501G>A	ENST00000397910.4	-	64	41594	c.41391C>T	c.(41389-41391)ttC>ttT	p.F13797F	MUC16_ENST00000380951.5_Silent_p.F438F	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	13799	SEA 12. {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.F13797F(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						TAGTGATGGTGAAGTTGAGGG	0.483																																						uc002mkp.2																			1	Substitution - coding silent(1)		lung(1)	lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						c.(41389-41391)TTC>TTT		mucin 16							199.0	178.0	185.0					19																	8994501		1978	4170	6148	SO:0001819	synonymous_variant	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:8994501G>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.41391C>T	19.37:g.8994501G>A						MUC16_uc010dwi.2_RNA|MUC16_uc010dwj.2_Silent_p.F614F|MUC16_uc010xki.1_RNA	p.F13797F	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN			64	41595	-			13799	Missing (in Ref. 3; AAK74120).		Extracellular (Potential).|SEA 12.|ANK 1.		Q6ZQW5|Q96RK2	Silent	SNP	ENST00000397910.4	37	c.41391C>T	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	.	1.024	-0.683931	0.03353	.	.	ENSG00000181143	ENST00000542240	.	.	.	2.69	1.6	0.23607	.	.	.	.	.	T	0.38348	0.1037	.	.	.	.	.	.	.	.	.	.	.	.	T	0.44467	-0.9326	3	.	.	.	.	5.9252	0.19108	0.1528:0.0:0.8472:0.0	.	.	.	.	L	637	.	.	S	-	2	0	MUC16	8855501	1.000000	0.71417	1.000000	0.80357	0.194000	0.23727	1.772000	0.38552	0.673000	0.31224	0.557000	0.71058	TCA		PASS	0.483	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		43	269	43	269	---	---	---	---
MUC16	94025	broad.mit.edu	37	19	9087854	9087854	+	Missense_Mutation	SNP	G	G	C			TCGA-66-2766-01A-01D-1522-08	TCGA-66-2766-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	452b75d0-1818-46aa-8804-9cfc0bd66449	81a4d615-e95e-4c17-87f7-c06d8dd4975a	g.chr19:9087854G>C	ENST00000397910.4	-	1	4164	c.3961C>G	c.(3961-3963)Ccc>Gcc	p.P1321A		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	1321	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.P1321A(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						TAGGTGGTGGGGTCCCAGGTA	0.507																																						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.(3961-3963)CCC>GCC		mucin 16							138.0	136.0	137.0					19																	9087854		2118	4240	6358	SO:0001583	missense	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9087854G>C	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.3961C>G	19.37:g.9087854G>C	ENSP00000381008:p.Pro1321Ala						p.P1321A	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN			1	4165	-			1321			Thr-rich.|Extracellular (Potential).		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	c.3961C>G	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	g	0.695	-0.792889	0.02862	.	.	ENSG00000181143	ENST00000397910	T	0.03094	4.05	1.3	-2.59	0.06209	.	.	.	.	.	T	0.01835	0.0058	N	0.08118	0	.	.	.	B	0.17038	0.02	B	0.10450	0.005	T	0.44787	-0.9305	8	0.87932	D	0	.	2.7866	0.05375	0.3936:0.2502:0.3562:0.0	.	1321	B5ME49	.	A	1321	ENSP00000381008:P1321A	ENSP00000381008:P1321A	P	-	1	0	MUC16	8948854	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-0.683000	0.05179	-1.033000	0.03299	0.305000	0.20034	CCC		PASS	0.507	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		68	133	68	133	---	---	---	---
CARM1	10498	broad.mit.edu	37	19	11032100	11032100	+	Missense_Mutation	SNP	G	G	C			TCGA-66-2766-01A-01D-1522-08	TCGA-66-2766-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	452b75d0-1818-46aa-8804-9cfc0bd66449	81a4d615-e95e-4c17-87f7-c06d8dd4975a	g.chr19:11032100G>C	ENST00000327064.4	+	15	1855	c.1665G>C	c.(1663-1665)atG>atC	p.M555I	CARM1_ENST00000344150.4_Intron	NM_199141.1	NP_954592.1	Q86X55	CARM1_HUMAN	coactivator-associated arginine methyltransferase 1	555	Transactivation domain. {ECO:0000250}.				cellular lipid metabolic process (GO:0044255)|endochondral bone morphogenesis (GO:0060350)|histone H3-R17 methylation (GO:0034971)|histone H3-R2 methylation (GO:0034970)|histone methylation (GO:0016571)|intracellular estrogen receptor signaling pathway (GO:0030520)|negative regulation of protein binding (GO:0032091)|pathogenesis (GO:0009405)|peptidyl-arginine methylation, to asymmetrical-dimethyl arginine (GO:0019919)|positive regulation of cell proliferation (GO:0008284)|positive regulation of fat cell differentiation (GO:0045600)|regulation of growth plate cartilage chondrocyte proliferation (GO:0003420)|regulation of intracellular estrogen receptor signaling pathway (GO:0033146)|regulation of transcription, DNA-templated (GO:0006355)|response to cAMP (GO:0051591)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	beta-catenin binding (GO:0008013)|histone methyltransferase activity (GO:0042054)|histone methyltransferase activity (H3-R17 specific) (GO:0035642)|histone-arginine N-methyltransferase activity (GO:0008469)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|lysine-acetylated histone binding (GO:0070577)|protein methyltransferase activity (GO:0008276)|protein-arginine N-methyltransferase activity (GO:0016274)|protein-arginine omega-N asymmetric methyltransferase activity (GO:0035242)|transcription coactivator activity (GO:0003713)|transcription regulatory region DNA binding (GO:0044212)	p.M555I(1)		breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|urinary_tract(1)	13						GCTCCATAATGAGCACGGGGA	0.672																																						uc002mpz.2																			1	Substitution - Missense(1)		lung(1)		0						c.(1663-1665)ATG>ATC		coactivator-associated arginine							99.0	101.0	101.0					19																	11032100		2203	4300	6503	SO:0001583	missense	10498				cellular lipid metabolic process|histone H3-R2 methylation|interspecies interaction between organisms|pathogenesis|positive regulation of fat cell differentiation|regulation of estrogen receptor signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleoplasm	beta-catenin binding|histone acetyl-lysine binding|histone methyltransferase activity (H3-R17 specific)|ligand-dependent nuclear receptor transcription coactivator activity|protein-arginine omega-N asymmetric methyltransferase activity|transcription regulatory region DNA binding	g.chr19:11032100G>C	AF055027	CCDS12250.1	19p13.2	2010-10-11			ENSG00000142453	ENSG00000142453		"""Protein arginine methyltransferases"""	23393	protein-coding gene	gene with protein product		603934				10381882, 11724789	Standard	NM_199141		Approved	PRMT4	uc002mpz.3	Q86X55		ENST00000327064.4:c.1665G>C	19.37:g.11032100G>C	ENSP00000325690:p.Met555Ile					CARM1_uc010dxn.2_RNA|CARM1_uc002mqa.2_Intron	p.M555I	NM_199141	NP_954592	Q86X55	CARM1_HUMAN			15	1791	+			555			Transactivation domain (By similarity).		A6NN38	Missense_Mutation	SNP	ENST00000327064.4	37	c.1665G>C	CCDS12250.1	.	.	.	.	.	.	.	.	.	.	G	19.03	3.747241	0.69418	.	.	ENSG00000142453	ENST00000327064	T	0.26223	1.75	4.99	3.96	0.45880	.	0.000000	0.85682	D	0.000000	T	0.19644	0.0472	L	0.36672	1.1	0.80722	D	1	B	0.22003	0.063	B	0.18871	0.023	T	0.03969	-1.0988	10	0.22706	T	0.39	-6.1317	12.1924	0.54278	0.0852:0.0:0.9148:0.0	.	555	Q86X55	CARM1_HUMAN	I	555	ENSP00000325690:M555I	ENSP00000325690:M555I	M	+	3	0	CARM1	10893100	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	8.749000	0.91619	1.084000	0.41184	0.557000	0.71058	ATG		PASS	0.672	CARM1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000452625.1	XM_032719		100	228	100	228	---	---	---	---
ZNF653	115950	broad.mit.edu	37	19	11598418	11598418	+	Missense_Mutation	SNP	G	G	A			TCGA-66-2766-01A-01D-1522-08	TCGA-66-2766-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	452b75d0-1818-46aa-8804-9cfc0bd66449	81a4d615-e95e-4c17-87f7-c06d8dd4975a	g.chr19:11598418G>A	ENST00000293771.5	-	4	996	c.860C>T	c.(859-861)gCg>gTg	p.A287V	CTC-398G3.6_ENST00000585656.1_Intron	NM_138783.3	NP_620138.2	Q96CK0	ZN653_HUMAN	zinc finger protein 653	287					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.A287V(1)		endometrium(2)|kidney(3)|large_intestine(2)|lung(8)|prostate(1)|skin(1)	17						GCTGGGGCCCGCACCCACTTG	0.687																																					Pancreas(83;980 1446 4542 6441 43352)	uc002mrz.1																			1	Substitution - Missense(1)		lung(1)		0						c.(859-861)GCG>GTG		zinc finger protein 653							37.0	42.0	41.0					19																	11598418		2203	4298	6501	SO:0001583	missense	115950				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:11598418G>A	AY072704	CCDS12261.1	19p13.2	2013-01-08						"""Zinc fingers, C2H2-type"""	25196	protein-coding gene	gene with protein product		611371				12477932	Standard	NM_138783		Approved	Zip67	uc002mrz.2	Q96CK0		ENST00000293771.5:c.860C>T	19.37:g.11598418G>A	ENSP00000293771:p.Ala287Val						p.A287V	NM_138783	NP_620138	Q96CK0	ZN653_HUMAN			4	913	-			287					Q96AS7	Missense_Mutation	SNP	ENST00000293771.5	37	c.860C>T	CCDS12261.1	.	.	.	.	.	.	.	.	.	.	G	16.16	3.044739	0.55110	.	.	ENSG00000161914	ENST00000293771	T	0.11495	2.77	4.65	4.65	0.58169	.	0.759862	0.12362	N	0.475565	T	0.08891	0.0220	N	0.14661	0.345	0.34174	D	0.670109	B	0.24368	0.102	B	0.15052	0.012	T	0.18147	-1.0346	10	0.66056	D	0.02	-9.6464	16.6782	0.85285	0.0:0.0:1.0:0.0	.	287	Q96CK0	ZN653_HUMAN	V	287	ENSP00000293771:A287V	ENSP00000293771:A287V	A	-	2	0	ZNF653	11459418	0.166000	0.22962	0.971000	0.41717	0.773000	0.43773	2.818000	0.48041	2.293000	0.77203	0.561000	0.74099	GCG		PASS	0.687	ZNF653-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458836.2	NM_138783		4	169	4	169	---	---	---	---
ZNF763	284390	broad.mit.edu	37	19	12089587	12089587	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2766-01A-01D-1522-08	TCGA-66-2766-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	452b75d0-1818-46aa-8804-9cfc0bd66449	81a4d615-e95e-4c17-87f7-c06d8dd4975a	g.chr19:12089587C>T	ENST00000358987.3	+	4	975	c.848C>T	c.(847-849)cCa>cTa	p.P283L	ZNF763_ENST00000545530.1_Missense_Mutation_p.P161L|ZNF763_ENST00000538752.1_Missense_Mutation_p.P303L|ZNF763_ENST00000343949.5_Missense_Mutation_p.P286L|ZNF763_ENST00000590798.1_Missense_Mutation_p.P303L			Q0D2J5	ZN763_HUMAN	zinc finger protein 763	283					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.P285L(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(9)	15						GGGGGAAAGCCATATGAATGT	0.418																																						uc002msw.2																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1						c.(847-849)CCA>CTA		zinc finger protein 763							56.0	60.0	59.0					19																	12089587		2190	4293	6483	SO:0001583	missense	284390				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:12089587C>T	AK092240	CCDS45982.1	19p13.2	2014-02-12	2006-08-14		ENSG00000197054	ENSG00000197054		"""Zinc fingers, C2H2-type"", ""-"""	27614	protein-coding gene	gene with protein product							Standard	NM_001012753		Approved	ZNF440L		Q0D2J5	OTTHUMG00000156430	ENST00000358987.3:c.848C>T	19.37:g.12089587C>T	ENSP00000402017:p.Pro283Leu					ZNF763_uc010xmf.1_Missense_Mutation_p.P303L|ZNF763_uc002msv.2_Missense_Mutation_p.P286L|ZNF763_uc010xmg.1_Missense_Mutation_p.P161L	p.P283L	NM_001012753	NP_001012771	Q0D2J5	ZN763_HUMAN			4	1003	+			283					B3KRU3|B4DRE7	Missense_Mutation	SNP	ENST00000358987.3	37	c.848C>T		.	.	.	.	.	.	.	.	.	.	c	13.47	2.247474	0.39697	.	.	ENSG00000197054	ENST00000538752;ENST00000343949;ENST00000545530;ENST00000358987	T;T;T;T	0.17054	2.3;2.3;2.3;2.3	1.43	1.43	0.22495	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.31231	0.0790	L	0.53780	1.695	0.40848	D	0.983722	D;D;D	0.89917	0.982;0.998;1.0	P;D;D	0.83275	0.604;0.934;0.996	T	0.07908	-1.0748	9	0.87932	D	0	.	7.4137	0.27032	0.0:0.726:0.274:0.0	.	303;283;286	F5H0A9;Q0D2J5;Q0D2J5-2	.;ZN763_HUMAN;.	L	303;286;161;283	ENSP00000438117:P303L;ENSP00000369774:P286L;ENSP00000446166:P161L;ENSP00000402017:P283L	ENSP00000369774:P286L	P	+	2	0	ZNF763	11950587	0.046000	0.20272	0.014000	0.15608	0.022000	0.10575	1.195000	0.32186	0.778000	0.33520	0.306000	0.20318	CCA		PASS	0.418	ZNF763-002	KNOWN	basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000344158.1	NM_001012753		97	78	97	78	---	---	---	---
ZNF433	163059	broad.mit.edu	37	19	12126290	12126290	+	Missense_Mutation	SNP	G	G	C			TCGA-66-2766-01A-01D-1522-08	TCGA-66-2766-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	452b75d0-1818-46aa-8804-9cfc0bd66449	81a4d615-e95e-4c17-87f7-c06d8dd4975a	g.chr19:12126290G>C	ENST00000344980.6	-	4	1562	c.1392C>G	c.(1390-1392)ttC>ttG	p.F464L	CTD-2006C1.2_ENST00000406892.2_RNA|CTD-2006C1.2_ENST00000495324.1_RNA|ZNF433_ENST00000419886.2_Missense_Mutation_p.F429L|CTD-2006C1.2_ENST00000476474.1_RNA	NM_001080411.1	NP_001073880.1	Q8N7K0	ZN433_HUMAN	zinc finger protein 433	464					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.F464L(1)		breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(1)|prostate(1)|skin(1)	14						GTATTTGAAAGAAAGAGAAAT	0.393																																						uc002msy.1																			1	Substitution - Missense(1)		lung(1)		0						c.(1390-1392)TTC>TTG		zinc finger protein 433							64.0	68.0	66.0					19																	12126290		2181	4289	6470	SO:0001583	missense	163059				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:12126290G>C	AK098300	CCDS45983.1	19p13.13	2013-01-08			ENSG00000197647	ENSG00000197647		"""Zinc fingers, C2H2-type"", ""-"""	20811	protein-coding gene	gene with protein product							Standard	NM_001080411		Approved	FLJ40981	uc002msy.1	Q8N7K0	OTTHUMG00000156427	ENST00000344980.6:c.1392C>G	19.37:g.12126290G>C	ENSP00000339767:p.Phe464Leu					uc002msx.1_Intron|ZNF433_uc002msz.1_Missense_Mutation_p.F429L	p.F464L	NM_001080411	NP_001073880	Q8N7K0	ZN433_HUMAN			4	1563	-			464			C2H2-type 12.		Q86VX3	Missense_Mutation	SNP	ENST00000344980.6	37	c.1392C>G	CCDS45983.1	.	.	.	.	.	.	.	.	.	.	G	7.886	0.731179	0.15507	.	.	ENSG00000197647	ENST00000419886;ENST00000344980	T;T	0.07114	3.22;3.22	1.22	-2.45	0.06481	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.02083	0.0065	N	0.01417	-0.88	0.09310	N	1	B	0.23650	0.089	B	0.19391	0.025	T	0.43845	-0.9366	9	0.15952	T	0.53	.	3.7915	0.08722	0.3743:0.0:0.4534:0.1723	.	464	Q8N7K0	ZN433_HUMAN	L	429;464	ENSP00000393416:F429L;ENSP00000339767:F464L	ENSP00000339767:F464L	F	-	3	2	ZNF433	11987290	0.000000	0.05858	0.000000	0.03702	0.794000	0.44872	-1.820000	0.01714	-1.228000	0.02568	0.305000	0.20034	TTC		PASS	0.393	ZNF433-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403716.1	NM_152602		31	141	31	141	---	---	---	---
ZNF44	51710	broad.mit.edu	37	19	12384865	12384865	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2766-01A-01D-1522-08	TCGA-66-2766-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	452b75d0-1818-46aa-8804-9cfc0bd66449	81a4d615-e95e-4c17-87f7-c06d8dd4975a	g.chr19:12384865C>T	ENST00000356109.5	-	5	467	c.349G>A	c.(349-351)Gag>Aag	p.E117K	ZNF44_ENST00000355684.5_Missense_Mutation_p.E69K	NM_001164276.1	NP_001157748.1	P15621	ZNF44_HUMAN	zinc finger protein 44	117	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.E69K(1)		ovary(1)	1		Renal(1328;0.157)		GBM - Glioblastoma multiforme(1328;0.0164)|Lung(535;0.179)		CCAAATCTCTCTACCACATCA	0.313																																						uc010xmj.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(349-351)GAG>AAG		zinc finger protein 44 isoform 1							161.0	158.0	159.0					19																	12384865		1926	4137	6063	SO:0001583	missense	51710				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|microtubule cytoskeleton|nucleus	DNA binding|protein binding|zinc ion binding	g.chr19:12384865C>T	X52338	CCDS45988.1, CCDS54223.1	19p13.2	2013-01-08	2006-05-11		ENSG00000197857	ENSG00000197857		"""Zinc fingers, C2H2-type"", ""-"""	13110	protein-coding gene	gene with protein product		194542	"""zinc finger protein 58"", ""zinc finger protein 44 (KOX 7)"", ""zinc finger protein 55"""	ZNF58, ZNF55		1946370, 1505991	Standard	NM_016264		Approved	KOX7, ZNF504	uc010xmj.2	P15621	OTTHUMG00000156424	ENST00000356109.5:c.349G>A	19.37:g.12384865C>T	ENSP00000348419:p.Glu117Lys					ZNF44_uc002mtl.2_Intron|ZNF44_uc010dyr.1_Intron|ZNF44_uc010xmi.1_RNA|ZNF44_uc002mtn.3_RNA|ZNF44_uc010dys.2_Missense_Mutation_p.E69K	p.E117K	NM_001164276	NP_001157748	P15621	ZNF44_HUMAN		GBM - Glioblastoma multiforme(1328;0.0164)|Lung(535;0.179)	5	554	-		Renal(1328;0.157)	117			KRAB.		B4DML9|B9EGJ5|B9ZVM2|P17018|Q9ULZ7	Missense_Mutation	SNP	ENST00000356109.5	37	c.349G>A	CCDS54223.1	.	.	.	.	.	.	.	.	.	.	C	17.93	3.508393	0.64410	.	.	ENSG00000197857	ENST00000393337;ENST00000356109;ENST00000457673;ENST00000355684	T;T;T	0.07800	3.22;3.16;3.2	1.01	1.01	0.19927	Krueppel-associated box (1);	.	.	.	.	T	0.07279	0.0184	N	0.12502	0.225	.	.	.	P;D	0.54964	0.947;0.969	P;P	0.52823	0.507;0.71	T	0.34576	-0.9823	8	0.27082	T	0.32	.	7.5197	0.27620	0.0:1.0:0.0:0.0	.	117;69	P15621;F8W7T7	ZNF44_HUMAN;.	K	117;117;69;69	ENSP00000377008:E117K;ENSP00000348419:E117K;ENSP00000347910:E69K	ENSP00000347910:E69K	E	-	1	0	ZNF44	12245865	0.497000	0.26067	0.041000	0.18516	0.713000	0.41058	3.475000	0.53136	0.868000	0.35678	0.313000	0.20887	GAG		PASS	0.313	ZNF44-002	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000344132.1	NM_016264		94	525	94	525	---	---	---	---
EMR3	84658	broad.mit.edu	37	19	14740935	14740935	+	Silent	SNP	G	G	T			TCGA-66-2766-01A-01D-1522-08	TCGA-66-2766-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	452b75d0-1818-46aa-8804-9cfc0bd66449	81a4d615-e95e-4c17-87f7-c06d8dd4975a	g.chr19:14740935G>T	ENST00000253673.5	-	14	1828	c.1728C>A	c.(1726-1728)gcC>gcA	p.A576A	EMR3_ENST00000443157.2_Silent_p.A450A|EMR3_ENST00000344373.4_Silent_p.A524A|EMR3_ENST00000599900.1_Silent_p.A361A	NM_032571.3	NP_115960.2	Q9BY15	EMR3_HUMAN	egf-like module containing, mucin-like, hormone receptor-like 3	576					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)	p.A576A(1)		NS(1)|autonomic_ganglia(1)|breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(12)|lung(14)|ovary(7)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	50						CCATGACCTGGGCAGCTGGAC	0.557																																						uc002mzi.3																			1	Substitution - coding silent(1)		lung(1)	ovary(5)|skin(1)	6						c.(1726-1728)GCC>GCA		egf-like module-containing mucin-like receptor							112.0	94.0	100.0					19																	14740935		2203	4300	6503	SO:0001819	synonymous_variant	84658				neuropeptide signaling pathway	extracellular space|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity	g.chr19:14740935G>T	AF239764	CCDS12315.1, CCDS74296.1, CCDS74297.1	19p13.1	2014-08-08				ENSG00000131355		"""-"", ""GPCR / Class B : Orphans"""	23647	protein-coding gene	gene with protein product		606101				11279179, 12975309	Standard	XM_005260118		Approved		uc002mzi.4	Q9BY15		ENST00000253673.5:c.1728C>A	19.37:g.14740935G>T						EMR3_uc010dzp.2_Silent_p.A524A|EMR3_uc010xnv.1_Silent_p.A450A	p.A576A	NM_032571	NP_115960	Q9BY15	EMR3_HUMAN			14	1876	-			576			Helical; Name=6; (Potential).			Silent	SNP	ENST00000253673.5	37	c.1728C>A	CCDS12315.1																																																																																				PASS	0.557	EMR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466488.1	NM_032571		74	68	74	68	---	---	---	---
RASAL3	64926	broad.mit.edu	37	19	15564029	15564029	+	Nonsense_Mutation	SNP	C	C	T			TCGA-66-2766-01A-01D-1522-08	TCGA-66-2766-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	452b75d0-1818-46aa-8804-9cfc0bd66449	81a4d615-e95e-4c17-87f7-c06d8dd4975a	g.chr19:15564029C>T	ENST00000343625.7	-	15	2644	c.2559G>A	c.(2557-2559)tgG>tgA	p.W853*		NM_022904.1	NP_075055.1	Q86YV0	RASL3_HUMAN	RAS protein activator like 3	853					negative regulation of Ras protein signal transduction (GO:0046580)|positive regulation of Ras GTPase activity (GO:0032320)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|membrane (GO:0016020)	Ras GTPase activator activity (GO:0005099)	p.W853*(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|skin(1)	18						AGTCCCGGGTCCAAGGCCGGG	0.736																																						uc002nbe.2																			1	Substitution - Nonsense(1)		lung(1)		0						c.(2557-2559)TGG>TGA		RAS protein activator like 3							22.0	22.0	22.0					19																	15564029		1925	4135	6060	SO:0001587	stop_gained	64926				negative regulation of Ras protein signal transduction|signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	Ras GTPase activator activity	g.chr19:15564029C>T		CCDS46006.1	19p13.12	2008-12-18			ENSG00000105122	ENSG00000105122			26129	protein-coding gene	gene with protein product						12477932	Standard	NM_022904		Approved	FLJ21438	uc002nbe.2	Q86YV0		ENST00000343625.7:c.2559G>A	19.37:g.15564029C>T	ENSP00000341905:p.Trp853*					RASAL3_uc002nbd.2_Nonsense_Mutation_p.W193*|RASAL3_uc010eaa.1_Nonsense_Mutation_p.W341*	p.W853*	NM_022904	NP_075055	Q86YV0	RASL3_HUMAN			15	2645	-			853					Q8N2T9|Q9H735	Nonsense_Mutation	SNP	ENST00000343625.7	37	c.2559G>A	CCDS46006.1	.	.	.	.	.	.	.	.	.	.	C	38	6.896083	0.97916	.	.	ENSG00000105122	ENST00000343625	.	.	.	4.53	4.53	0.55603	.	0.520751	0.16451	N	0.213868	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.07175	T	0.84	.	12.7985	0.57571	0.0:1.0:0.0:0.0	.	.	.	.	X	853	.	ENSP00000341905:W853X	W	-	3	0	RASAL3	15425029	1.000000	0.71417	0.995000	0.50966	0.509000	0.34042	3.683000	0.54663	2.073000	0.62155	0.585000	0.79938	TGG		PASS	0.736	RASAL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461331.3	NM_022904		7	20	7	20	---	---	---	---
CIB3	117286	broad.mit.edu	37	19	16280444	16280444	+	Silent	SNP	C	C	G			TCGA-66-2766-01A-01D-1522-08	TCGA-66-2766-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	452b75d0-1818-46aa-8804-9cfc0bd66449	81a4d615-e95e-4c17-87f7-c06d8dd4975a	g.chr19:16280444C>G	ENST00000269878.4	-	3	244	c.195G>C	c.(193-195)ctG>ctC	p.L65L	CIB3_ENST00000541493.1_Intron|CIB3_ENST00000379859.3_Intron	NM_054113.2	NP_473454.1	Q96Q77	CIB3_HUMAN	calcium and integrin binding family member 3	65							calcium ion binding (GO:0005509)	p.L65L(1)		cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|skin(2)	16						GGCATACCTTCAGCTCGGGCA	0.542																																						uc002nds.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(193-195)CTG>CTC		DNA-dependent protein kinase catalytic							61.0	46.0	51.0					19																	16280444		2203	4300	6503	SO:0001819	synonymous_variant	117286						calcium ion binding	g.chr19:16280444C>G	AB050868	CCDS12340.1, CCDS74305.1	19p13.12	2013-01-10						"""EF-hand domain containing"""	24580	protein-coding gene	gene with protein product		610645					Standard	XM_005259728		Approved	KIP3	uc002nds.3	Q96Q77		ENST00000269878.4:c.195G>C	19.37:g.16280444C>G						CIB3_uc010eae.2_Silent_p.L4L|CIB3_uc010eaf.2_Intron|CIB3_uc010eag.2_Intron	p.L65L	NM_054113	NP_473454	Q96Q77	CIB3_HUMAN			3	195	-			65					E7EUX1|Q2M1W0|Q6ISP1	Silent	SNP	ENST00000269878.4	37	c.195G>C	CCDS12340.1																																																																																				PASS	0.542	CIB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460351.1	NM_054113		20	54	20	54	---	---	---	---
CPAMD8	27151	broad.mit.edu	37	19	17049240	17049240	+	Missense_Mutation	SNP	C	C	A	rs192557594		TCGA-66-2766-01A-01D-1522-08	TCGA-66-2766-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	452b75d0-1818-46aa-8804-9cfc0bd66449	81a4d615-e95e-4c17-87f7-c06d8dd4975a	g.chr19:17049240C>A	ENST00000443236.1	-	23	2982	c.2951G>T	c.(2950-2952)cGg>cTg	p.R984L		NM_015692.2	NP_056507.2	Q8IZJ3	CPMD8_HUMAN	C3 and PZP-like, alpha-2-macroglobulin domain containing 8	937						extracellular space (GO:0005615)|plasma membrane (GO:0005886)	serine-type endopeptidase inhibitor activity (GO:0004867)	p.R984L(1)		breast(11)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(14)|ovary(7)|pancreas(2)|prostate(4)|skin(5)	82						GGTGTACGCCCGGGGGACTCC	0.617																																						uc002nfb.2																			1	Substitution - Missense(1)		lung(1)	ovary(4)|breast(4)|large_intestine(3)|pancreas(1)|skin(1)	13						c.(2950-2952)CGG>CTG		C3 and PZP-like, alpha-2-macroglobulin domain							41.0	44.0	43.0					19																	17049240		2047	4203	6250	SO:0001583	missense	27151					extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity	g.chr19:17049240C>A	AY101765	CCDS42519.1	19p13.12	2008-02-05			ENSG00000160111	ENSG00000160111			23228	protein-coding gene	gene with protein product		608841				10574462	Standard	NM_015692		Approved	KIAA1283, VIP, K-CAP	uc002nfb.3	Q8IZJ3	OTTHUMG00000133549	ENST00000443236.1:c.2951G>T	19.37:g.17049240C>A	ENSP00000402505:p.Arg984Leu						p.R984L	NM_015692	NP_056507	Q8IZJ3	CPMD8_HUMAN			23	2983	-			937					Q8NC09|Q9ULD7	Missense_Mutation	SNP	ENST00000443236.1	37	c.2951G>T	CCDS42519.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	16.00|16.00	2.997208|2.997208	0.54147|0.54147	.|.	.|.	ENSG00000160111|ENSG00000160111	ENST00000443236|ENST00000291440	.|.	.|.	.|.	2.39|2.39	-0.0574|-0.0574	0.13801|0.13801	.|.	.|0.291547	.|0.29389	.|U	.|0.012295	T|T	0.68613|0.68613	0.3020|0.3020	M|M	0.70595|0.70595	2.14|2.14	0.80722|0.80722	D|D	1|1	.|D	.|0.89917	.|1.0	.|D	.|0.85130	.|0.997	T|T	0.64867|0.64867	-0.6306|-0.6306	5|9	.|0.56958	.|D	.|0.05	.|.	7.7314|7.7314	0.28789|0.28789	0.0:0.776:0.0:0.224|0.0:0.776:0.0:0.224	.|.	.|937	.|Q8IZJ3	.|CPMD8_HUMAN	W|L	995|984	.|.	.|ENSP00000291440:R984L	G|R	-|-	1|2	0|0	CPAMD8|CPAMD8	16910240|16910240	1.000000|1.000000	0.71417|0.71417	0.000000|0.000000	0.03702|0.03702	0.073000|0.073000	0.16967|0.16967	3.681000|3.681000	0.54648|0.54648	-0.240000|-0.240000	0.09696|0.09696	0.205000|0.205000	0.17691|0.17691	GGG|CGG		PASS	0.617	CPAMD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257531.2	NM_015692		14	36	14	36	---	---	---	---
UNC13A	23025	broad.mit.edu	37	19	17728602	17728602	+	Silent	SNP	C	C	T			TCGA-66-2766-01A-01D-1522-08	TCGA-66-2766-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	452b75d0-1818-46aa-8804-9cfc0bd66449	81a4d615-e95e-4c17-87f7-c06d8dd4975a	g.chr19:17728602C>T	ENST00000519716.2	-	41	4466	c.4467G>A	c.(4465-4467)ccG>ccA	p.P1489P	UNC13A_ENST00000551649.1_Silent_p.P1489P|UNC13A_ENST00000550896.1_Silent_p.P1462P|UNC13A_ENST00000552293.1_Silent_p.P1464P|UNC13A_ENST00000252773.7_Silent_p.P1489P|UNC13A_ENST00000428389.2_Silent_p.P1577P	NM_001080421.2	NP_001073890.2	Q9UPW8	UN13A_HUMAN	unc-13 homolog A (C. elegans)	1489	MHD2. {ECO:0000255|PROSITE- ProRule:PRU00588}.				beta-amyloid metabolic process (GO:0050435)|innervation (GO:0060384)|intracellular signal transduction (GO:0035556)|neuromuscular junction development (GO:0007528)|neurotransmitter secretion (GO:0007269)|positive regulation of neurotransmitter secretion (GO:0001956)|regulation of short-term neuronal synaptic plasticity (GO:0048172)|regulation of synaptic transmission, glutamatergic (GO:0051966)|synaptic transmission, glutamatergic (GO:0035249)|synaptic vesicle docking involved in exocytosis (GO:0016081)|synaptic vesicle maturation (GO:0016188)	axon (GO:0030424)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|neuromuscular junction (GO:0031594)|neuron projection (GO:0043005)|presynaptic active zone (GO:0048786)|presynaptic membrane (GO:0042734)	diacylglycerol binding (GO:0019992)|metal ion binding (GO:0046872)|protein N-terminus binding (GO:0047485)|syntaxin-1 binding (GO:0017075)	p.P1489P(1)|p.P1577P(1)		breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|prostate(2)	61						ATTGCAGGTCCGGGCTCTTCT	0.597																																						uc002nhd.2																			2	Substitution - coding silent(2)		lung(2)	ovary(3)	3						c.(4729-4731)CCG>CCA		unc-13 homolog A							87.0	94.0	92.0					19																	17728602		2079	4229	6308	SO:0001819	synonymous_variant	23025				exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding	g.chr19:17728602C>T	AB028955	CCDS46013.1, CCDS46013.2	19p13.12	2008-02-05				ENSG00000130477			23150	protein-coding gene	gene with protein product		609894					Standard	NM_001080421		Approved	KIAA1032, Munc13-1	uc031rjv.1	Q9UPW8		ENST00000519716.2:c.4467G>A	19.37:g.17728602C>T							p.P1577P	NM_001080421	NP_001073890	Q9UPW8	UN13A_HUMAN			40	4731	-			1489			MHD2.		E5RHY9	Silent	SNP	ENST00000519716.2	37	c.4731G>A	CCDS46013.2																																																																																				PASS	0.597	UNC13A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000376169.2	XM_038604		42	172	42	172	---	---	---	---
SLC5A5	6528	broad.mit.edu	37	19	18001770	18001770	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2766-01A-01D-1522-08	TCGA-66-2766-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	452b75d0-1818-46aa-8804-9cfc0bd66449	81a4d615-e95e-4c17-87f7-c06d8dd4975a	g.chr19:18001770C>T	ENST00000222248.3	+	14	2074	c.1727C>T	c.(1726-1728)cCc>cTc	p.P576L		NM_000453.2	NP_000444.1	Q92911	SC5A5_HUMAN	solute carrier family 5 (sodium/iodide cotransporter), member 5	576					cellular nitrogen compound metabolic process (GO:0034641)|cellular response to cAMP (GO:0071320)|cellular response to gonadotropin stimulus (GO:0071371)|iodide transport (GO:0015705)|ion transport (GO:0006811)|small molecule metabolic process (GO:0044281)|thyroid hormone generation (GO:0006590)|transmembrane transport (GO:0055085)|transport (GO:0006810)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	iodide transmembrane transporter activity (GO:0015111)|sodium:iodide symporter activity (GO:0008507)	p.P576L(1)		NS(2)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(6)|lung(13)|ovary(1)|prostate(1)|skin(3)	31						TCAGTGGCCCCCAAGGAAGAA	0.592																																					Melanoma(65;1008 1708 7910 46650)	uc002nhr.3																			1	Substitution - Missense(1)		lung(1)	skin(2)|ovary(1)|central_nervous_system(1)	4						c.(1726-1728)CCC>CTC		solute carrier family 5 (sodium iodide							114.0	105.0	108.0					19																	18001770		2203	4300	6503	SO:0001583	missense	6528				cellular nitrogen compound metabolic process|cellular response to cAMP|cellular response to gonadotropin stimulus|hormone biosynthetic process	integral to membrane|nucleus|plasma membrane	iodide transmembrane transporter activity|sodium:iodide symporter activity	g.chr19:18001770C>T		CCDS12368.1	19p13.11	2013-07-19	2013-07-19		ENSG00000105641	ENSG00000105641		"""Solute carriers"""	11040	protein-coding gene	gene with protein product		601843	"""solute carrier family 5 (sodium iodide symporter), member 5"""			9231811	Standard	NM_000453		Approved	NIS	uc002nhr.4	Q92911		ENST00000222248.3:c.1727C>T	19.37:g.18001770C>T	ENSP00000222248:p.Pro576Leu						p.P576L	NM_000453	NP_000444	Q92911	SC5A5_HUMAN			14	2074	+			576			Cytoplasmic (Potential).		O43702|Q2M335|Q9NYB6	Missense_Mutation	SNP	ENST00000222248.3	37	c.1727C>T	CCDS12368.1	.	.	.	.	.	.	.	.	.	.	C	15.14	2.746526	0.49257	.	.	ENSG00000105641	ENST00000222248	D	0.86865	-2.18	4.71	3.63	0.41609	.	1.687040	0.03104	N	0.161573	D	0.86806	0.6021	M	0.62723	1.935	0.47308	D	0.99938	B	0.14012	0.009	B	0.10450	0.005	T	0.62572	-0.6826	10	0.22706	T	0.39	.	12.2455	0.54568	0.0:0.8268:0.1732:0.0	.	576	Q92911	SC5A5_HUMAN	L	576	ENSP00000222248:P576L	ENSP00000222248:P576L	P	+	2	0	SLC5A5	17862770	0.657000	0.27393	0.995000	0.50966	0.883000	0.51084	2.690000	0.47001	1.147000	0.42369	0.491000	0.48974	CCC		PASS	0.592	SLC5A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466690.1			135	211	135	211	---	---	---	---
NCAN	1463	broad.mit.edu	37	19	19349166	19349166	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2766-01A-01D-1522-08	TCGA-66-2766-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	452b75d0-1818-46aa-8804-9cfc0bd66449	81a4d615-e95e-4c17-87f7-c06d8dd4975a	g.chr19:19349166C>A	ENST00000252575.6	+	11	3454	c.3355C>A	c.(3355-3357)Cgc>Agc	p.R1119S	NCAN_ENST00000538881.1_Missense_Mutation_p.R570S	NM_004386.2	NP_004377.2	O14594	NCAN_HUMAN	neurocan	1119	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				axon guidance (GO:0007411)|carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|extracellular matrix organization (GO:0030198)|glycosaminoglycan metabolic process (GO:0030203)|regulation of synapse structural plasticity (GO:0051823)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|hyaluronic acid binding (GO:0005540)	p.R1133S(1)|p.R1119S(1)		breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(32)|ovary(5)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	64			Epithelial(12;0.00544)		Hyaluronan(DB08818)	CTGCCGCCGCCGCTCCGGCCA	0.652																																						uc002nlz.2																			2	Substitution - Missense(2)		lung(2)	ovary(4)	4						c.(3355-3357)CGC>AGC		chondroitin sulfate proteoglycan 3 precursor							42.0	51.0	48.0					19																	19349166		2202	4298	6500	SO:0001583	missense	1463				axon guidance|cell adhesion	extracellular region	calcium ion binding|hyaluronic acid binding|sugar binding	g.chr19:19349166C>A	AF026547	CCDS12397.1	19p12	2014-01-30	2007-02-15	2007-02-15	ENSG00000130287	ENSG00000130287		"""Immunoglobulin superfamily / V-set domain containing"", ""Proteoglycans / Extracellular Matrix : Hyalectans"", ""Endogenous ligands"""	2465	protein-coding gene	gene with protein product	"""neurocan proteoglycan"""	600826	"""chondroitin sulfate proteoglycan 3"""	CSPG3		1326557, 21353194	Standard	NM_004386		Approved		uc002nlz.3	O14594		ENST00000252575.6:c.3355C>A	19.37:g.19349166C>A	ENSP00000252575:p.Arg1119Ser					NCAN_uc010ecc.1_Missense_Mutation_p.R683S|NCAN_uc002nma.2_5'Flank	p.R1119S	NM_004386	NP_004377	O14594	NCAN_HUMAN	Epithelial(12;0.00544)		11	3454	+			1119			C-type lectin.		Q9UPK6	Missense_Mutation	SNP	ENST00000252575.6	37	c.3355C>A	CCDS12397.1	.	.	.	.	.	.	.	.	.	.	C	18.17	3.564944	0.65651	.	.	ENSG00000130287	ENST00000539499;ENST00000252575;ENST00000538881	T;T	0.17528	2.27;2.27	4.75	3.67	0.42095	C-type lectin fold (1);C-type lectin-like (1);C-type lectin (3);	0.000000	0.33005	N	0.005381	T	0.23688	0.0573	N	0.21324	0.655	0.30077	N	0.80956	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.988	T	0.02484	-1.1152	10	0.20046	T	0.44	-11.0302	12.2313	0.54490	0.1696:0.8303:0.0:0.0	.	1133;1119	Q4LE67;O14594	.;NCAN_HUMAN	S	1133;1119;570	ENSP00000252575:R1119S;ENSP00000442202:R570S	ENSP00000252575:R1119S	R	+	1	0	NCAN	19210166	0.999000	0.42202	0.347000	0.25668	0.708000	0.40852	4.652000	0.61454	2.464000	0.83262	0.561000	0.74099	CGC		PASS	0.652	NCAN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460111.2	NM_004386		52	100	52	100	---	---	---	---
ZNF626	199777	broad.mit.edu	37	19	20807233	20807233	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2766-01A-01D-1522-08	TCGA-66-2766-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	452b75d0-1818-46aa-8804-9cfc0bd66449	81a4d615-e95e-4c17-87f7-c06d8dd4975a	g.chr19:20807233C>T	ENST00000601440.1	-	4	1596	c.1450G>A	c.(1450-1452)Gaa>Aaa	p.E484K	CTC-513N18.7_ENST00000595094.1_lincRNA	NM_001076675.2	NP_001070143.1	Q68DY1	ZN626_HUMAN	zinc finger protein 626	484					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.E484K(1)		breast(1)|endometrium(1)|lung(3)|skin(1)	6						CCACATTCTTCACATTTGTAG	0.388																																						uc002npb.1																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(1450-1452)GAA>AAA		zinc finger protein 626 isoform 1							40.0	22.0	28.0					19																	20807233		1921	3752	5673	SO:0001583	missense	199777				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:20807233C>T	BC007116	CCDS32976.1, CCDS42535.1	19p13.11	2013-01-08				ENSG00000188171		"""Zinc fingers, C2H2-type"", ""-"""	30461	protein-coding gene	gene with protein product						12477932	Standard	NM_145297		Approved		uc002npb.1	Q68DY1		ENST00000601440.1:c.1450G>A	19.37:g.20807233C>T	ENSP00000469958:p.Glu484Lys					ZNF626_uc002npc.1_Missense_Mutation_p.E408K	p.E484K	NM_001076675	NP_001070143	Q68DY1	ZN626_HUMAN			4	1600	-			484			C2H2-type 12; degenerate.		Q8N8T4|Q96QM1	Missense_Mutation	SNP	ENST00000601440.1	37	c.1450G>A	CCDS42535.1	.	.	.	.	.	.	.	.	.	.	N	2.229	-0.376537	0.05000	.	.	ENSG00000188171	ENST00000392298;ENST00000453075	.	.	.	0.832	-0.483	0.12075	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.23133	0.0559	N	0.25245	0.725	0.23304	N	0.997943	B	0.30068	0.267	B	0.40940	0.344	T	0.37663	-0.9696	8	0.18710	T	0.47	.	1.4154	0.02300	0.3489:0.3345:0.0:0.3166	.	484	Q68DY1	ZN626_HUMAN	K	484;408	.	ENSP00000376118:E484K	E	-	1	0	ZNF626	20599073	0.000000	0.05858	0.037000	0.18230	0.036000	0.12997	-2.303000	0.01135	0.171000	0.19730	0.174000	0.16983	GAA		PASS	0.388	ZNF626-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447845.2	NM_145297		8	76	8	76	---	---	---	---
ZNF626	199777	broad.mit.edu	37	19	20807401	20807401	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2766-01A-01D-1522-08	TCGA-66-2766-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	452b75d0-1818-46aa-8804-9cfc0bd66449	81a4d615-e95e-4c17-87f7-c06d8dd4975a	g.chr19:20807401C>T	ENST00000601440.1	-	4	1428	c.1282G>A	c.(1282-1284)Gaa>Aaa	p.E428K	CTC-513N18.7_ENST00000595094.1_lincRNA	NM_001076675.2	NP_001070143.1	Q68DY1	ZN626_HUMAN	zinc finger protein 626	428					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.E428K(1)		breast(1)|endometrium(1)|lung(3)|skin(1)	6						CCACATTCTTCACATTTGTAG	0.388																																						uc002npb.1																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(1282-1284)GAA>AAA		zinc finger protein 626 isoform 1							53.0	50.0	51.0					19																	20807401		2103	4211	6314	SO:0001583	missense	199777				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:20807401C>T	BC007116	CCDS32976.1, CCDS42535.1	19p13.11	2013-01-08				ENSG00000188171		"""Zinc fingers, C2H2-type"", ""-"""	30461	protein-coding gene	gene with protein product						12477932	Standard	NM_145297		Approved		uc002npb.1	Q68DY1		ENST00000601440.1:c.1282G>A	19.37:g.20807401C>T	ENSP00000469958:p.Glu428Lys					ZNF626_uc002npc.1_Missense_Mutation_p.E352K	p.E428K	NM_001076675	NP_001070143	Q68DY1	ZN626_HUMAN			4	1432	-			428			C2H2-type 10.		Q8N8T4|Q96QM1	Missense_Mutation	SNP	ENST00000601440.1	37	c.1282G>A	CCDS42535.1	.	.	.	.	.	.	.	.	.	.	N	0.036	-1.306883	0.01353	.	.	ENSG00000188171	ENST00000392298;ENST00000453075;ENST00000305570	.	.	.	0.898	-0.35	0.12606	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.23210	0.0561	N	0.12471	0.22	0.09310	N	1	B	0.27823	0.19	P	0.44696	0.458	T	0.47971	-0.9075	8	0.14656	T	0.56	.	1.446	0.02365	0.3488:0.348:0.0:0.3032	.	428	Q68DY1	ZN626_HUMAN	K	428;352;428	.	ENSP00000445201:E428K	E	-	1	0	ZNF626	20599241	0.000000	0.05858	0.101000	0.21167	0.102000	0.19082	-2.846000	0.00735	0.284000	0.22305	0.289000	0.19496	GAA		PASS	0.388	ZNF626-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447845.2	NM_145297		52	296	52	296	---	---	---	---
ZNF626	199777	broad.mit.edu	37	19	20807684	20807684	+	Missense_Mutation	SNP	T	T	A			TCGA-66-2766-01A-01D-1522-08	TCGA-66-2766-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	452b75d0-1818-46aa-8804-9cfc0bd66449	81a4d615-e95e-4c17-87f7-c06d8dd4975a	g.chr19:20807684T>A	ENST00000601440.1	-	4	1145	c.999A>T	c.(997-999)agA>agT	p.R333S	CTC-513N18.7_ENST00000595094.1_lincRNA	NM_001076675.2	NP_001070143.1	Q68DY1	ZN626_HUMAN	zinc finger protein 626	333					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.R333S(1)		breast(1)|endometrium(1)|lung(3)|skin(1)	6						CAGTATGAATTCTTTTATGTG	0.353																																						uc002npb.1																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(997-999)AGA>AGT		zinc finger protein 626 isoform 1							120.0	133.0	128.0					19																	20807684		2157	4284	6441	SO:0001583	missense	199777				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:20807684T>A	BC007116	CCDS32976.1, CCDS42535.1	19p13.11	2013-01-08				ENSG00000188171		"""Zinc fingers, C2H2-type"", ""-"""	30461	protein-coding gene	gene with protein product						12477932	Standard	NM_145297		Approved		uc002npb.1	Q68DY1		ENST00000601440.1:c.999A>T	19.37:g.20807684T>A	ENSP00000469958:p.Arg333Ser					ZNF626_uc002npc.1_Missense_Mutation_p.R257S	p.R333S	NM_001076675	NP_001070143	Q68DY1	ZN626_HUMAN			4	1149	-			333			C2H2-type 6.		Q8N8T4|Q96QM1	Missense_Mutation	SNP	ENST00000601440.1	37	c.999A>T	CCDS42535.1	.	.	.	.	.	.	.	.	.	.	N	10.64	1.406781	0.25378	.	.	ENSG00000188171	ENST00000392298;ENST00000453075;ENST00000305570	.	.	.	0.898	0.898	0.19264	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.50069	0.1594	L	0.53617	1.68	0.80722	D	1	P	0.45283	0.855	P	0.50314	0.637	T	0.46925	-0.9156	8	0.51188	T	0.08	.	2.9181	0.05760	0.0:0.3331:0.0:0.6669	.	333	Q68DY1	ZN626_HUMAN	S	333;257;333	.	ENSP00000445201:R333S	R	-	3	2	ZNF626	20599524	0.000000	0.05858	0.009000	0.14445	0.009000	0.06853	-1.962000	0.01514	0.243000	0.21327	0.240000	0.17902	AGA		PASS	0.353	ZNF626-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447845.2	NM_145297		85	432	85	432	---	---	---	---
ZNF85	7639	broad.mit.edu	37	19	21131617	21131617	+	Silent	SNP	G	G	A			TCGA-66-2766-01A-01D-1522-08	TCGA-66-2766-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	452b75d0-1818-46aa-8804-9cfc0bd66449	81a4d615-e95e-4c17-87f7-c06d8dd4975a	g.chr19:21131617G>A	ENST00000328178.8	+	4	410	c.297G>A	c.(295-297)gtG>gtA	p.V99V	ZNF85_ENST00000601023.1_Silent_p.V40V|ZNF85_ENST00000345030.6_Silent_p.V66V|ZNF85_ENST00000597314.1_3'UTR	NM_001256173.1|NM_003429.4	NP_001243102.1|NP_003420.2	Q03923	ZNF85_HUMAN	zinc finger protein 85	99					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)|transcription corepressor activity (GO:0003714)	p.V99V(1)		breast(1)|central_nervous_system(1)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)	20						TCCAAAAAGTGACACTGAAAA	0.348																																						uc002npg.3																			1	Substitution - coding silent(1)		lung(1)	central_nervous_system(1)	1						c.(295-297)GTG>GTA		zinc finger protein 85							59.0	60.0	60.0					19																	21131617		2203	4296	6499	SO:0001819	synonymous_variant	7639					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding	g.chr19:21131617G>A	U35376	CCDS32977.1, CCDS58657.1	19p12	2013-01-08	2006-05-12			ENSG00000105750		"""Zinc fingers, C2H2-type"", ""-"""	13160	protein-coding gene	gene with protein product		603899	"""zinc finger protein 85 (HPF4, HTF1)"""			2505992	Standard	NM_003429		Approved	HPF4, HTF1	uc031rjx.1	Q03923		ENST00000328178.8:c.297G>A	19.37:g.21131617G>A						ZNF85_uc010ecn.2_Silent_p.V34V|ZNF85_uc010eco.2_Silent_p.V47V|ZNF85_uc002npi.2_Silent_p.V40V	p.V99V	NM_003429	NP_003420	Q03923	ZNF85_HUMAN			4	424	+			99					B9ZVP4|Q6NVI0	Silent	SNP	ENST00000328178.8	37	c.297G>A	CCDS32977.1																																																																																				PASS	0.348	ZNF85-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463430.1	NM_003429		43	259	43	259	---	---	---	---
ZNF208	7757	broad.mit.edu	37	19	22155510	22155510	+	Missense_Mutation	SNP	G	G	T	rs375447085		TCGA-66-2766-01A-01D-1522-08	TCGA-66-2766-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	452b75d0-1818-46aa-8804-9cfc0bd66449	81a4d615-e95e-4c17-87f7-c06d8dd4975a	g.chr19:22155510G>T	ENST00000397126.4	-	4	2474	c.2326C>A	c.(2326-2328)Ccc>Acc	p.P776T	ZNF208_ENST00000599916.1_Intron|ZNF208_ENST00000601773.1_Intron	NM_007153.3	NP_009084.2	O43345	ZN208_HUMAN	zinc finger protein 208	776					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.P676T(2)|p.P776T(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)				CATTTGTAGGGTTTCTCTACA	0.363																																						uc002nqp.2																			3	Substitution - Missense(3)		lung(3)	ovary(5)|skin(2)	7						c.(2026-2028)CCC>ACC		zinc finger protein 208							35.0	39.0	38.0					19																	22155510		2043	4214	6257	SO:0001583	missense	7757							g.chr19:22155510G>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.2326C>A	19.37:g.22155510G>T	ENSP00000380315:p.Pro776Thr					ZNF208_uc002nqo.1_Intron	p.P676T	NM_007153	NP_009084					5	2175	-		all_lung(12;0.0961)|Lung NSC(12;0.103)							Missense_Mutation	SNP	ENST00000397126.4	37	c.2026C>A	CCDS54240.1	.	.	.	.	.	.	.	.	.	.	G	6.518	0.463779	0.12402	.	.	ENSG00000160321	ENST00000397126;ENST00000428290	T	0.56275	0.47	2.28	1.16	0.20824	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.67581	0.2908	.	.	.	0.24520	N	0.99417	D	0.89917	1.0	D	0.83275	0.996	T	0.56517	-0.7966	8	0.72032	D	0.01	.	8.8589	0.35245	0.0:0.0:0.7748:0.2251	.	676	O43345	ZN208_HUMAN	T	776;676	ENSP00000380315:P776T	ENSP00000380315:P776T	P	-	1	0	ZNF208	21947350	0.118000	0.22208	0.011000	0.14972	0.003000	0.03518	2.518000	0.45537	-0.011000	0.14247	-1.187000	0.01702	CCC		PASS	0.363	ZNF208-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464302.1	NM_007153		62	64	62	64	---	---	---	---
ZNF536	9745	broad.mit.edu	37	19	30936483	30936483	+	Missense_Mutation	SNP	C	C	T	rs542487578		TCGA-66-2766-01A-01D-1522-08	TCGA-66-2766-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	452b75d0-1818-46aa-8804-9cfc0bd66449	81a4d615-e95e-4c17-87f7-c06d8dd4975a	g.chr19:30936483C>T	ENST00000355537.3	+	2	2161	c.2014C>T	c.(2014-2016)Cgt>Tgt	p.R672C		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536	672					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.R672C(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)					GGATGAGCGGCGTGGCTCGGG	0.692													C|||	1	0.000199681	0.0	0.0	5008	,	,		14366	0.0		0.0	False		,,,				2504	0.001					uc002nsu.1																			1	Substitution - Missense(1)		lung(1)	ovary(7)|large_intestine(2)|skin(2)	11						c.(2014-2016)CGT>TGT		zinc finger protein 536							36.0	40.0	39.0					19																	30936483		2203	4298	6501	SO:0001583	missense	9745				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding	g.chr19:30936483C>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.2014C>T	19.37:g.30936483C>T	ENSP00000347730:p.Arg672Cys					ZNF536_uc010edd.1_Missense_Mutation_p.R672C	p.R672C	NM_014717	NP_055532	O15090	ZN536_HUMAN			2	2152	+	Esophageal squamous(110;0.0834)		672					A2RU18	Missense_Mutation	SNP	ENST00000355537.3	37	c.2014C>T	CCDS32984.1	.	.	.	.	.	.	.	.	.	.	C	15.73	2.918825	0.52546	.	.	ENSG00000198597	ENST00000355537	T	0.09911	2.93	5.42	4.34	0.51931	.	0.000000	0.85682	D	0.000000	T	0.19565	0.0470	N	0.24115	0.695	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.83275	0.996;0.996	T	0.03306	-1.1050	10	0.35671	T	0.21	-21.8718	15.5106	0.75779	0.1389:0.8611:0.0:0.0	.	672;672	A7E228;O15090	.;ZN536_HUMAN	C	672	ENSP00000347730:R672C	ENSP00000347730:R672C	R	+	1	0	ZNF536	35628323	1.000000	0.71417	0.996000	0.52242	0.975000	0.68041	4.532000	0.60608	2.509000	0.84616	0.655000	0.94253	CGT		PASS	0.692	ZNF536-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459667.2	NM_014717		31	91	31	91	---	---	---	---
SLC7A9	11136	broad.mit.edu	37	19	33355641	33355641	+	Silent	SNP	G	G	A			TCGA-66-2766-01A-01D-1522-08	TCGA-66-2766-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	452b75d0-1818-46aa-8804-9cfc0bd66449	81a4d615-e95e-4c17-87f7-c06d8dd4975a	g.chr19:33355641G>A	ENST00000023064.4	-	3	320	c.129C>T	c.(127-129)atC>atT	p.I43I	SLC7A9_ENST00000590341.1_Silent_p.I43I|SLC7A9_ENST00000587772.1_Silent_p.I43I|RN7SKP22_ENST00000365097.1_RNA	NM_001126335.1|NM_001243036.1|NM_014270.4	NP_001119807.1|NP_001229965.1|NP_055085.1	P82251	BAT1_HUMAN	solute carrier family 7 (amino acid transporter light chain, bo,+ system), member 9	43					amino acid transport (GO:0006865)|blood coagulation (GO:0007596)|cellular amino acid metabolic process (GO:0006520)|ion transport (GO:0006811)|L-cystine transport (GO:0015811)|leukocyte migration (GO:0050900)|neutral amino acid transport (GO:0015804)|protein complex assembly (GO:0006461)|transmembrane transport (GO:0055085)|transport (GO:0006810)	brush border membrane (GO:0031526)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	amino acid transmembrane transporter activity (GO:0015171)|L-cystine transmembrane transporter activity (GO:0015184)|neutral amino acid transmembrane transporter activity (GO:0015175)|peptide antigen binding (GO:0042605)	p.I43I(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	32	Esophageal squamous(110;0.137)				L-Cystine(DB00138)	CAGAGCCAATGATGGTGCCCA	0.627																																					GBM(181;1335 2108 9644 44178 46689)	uc002ntv.3																			1	Substitution - coding silent(1)		lung(1)	skin(1)	1						c.(127-129)ATC>ATT		solute carrier family 7, member 9	L-Cystine(DB00138)						176.0	161.0	166.0					19																	33355641		2203	4300	6503	SO:0001819	synonymous_variant	11136				blood coagulation|cellular amino acid metabolic process|ion transport|leukocyte migration|protein complex assembly	integral to plasma membrane	L-cystine transmembrane transporter activity|neutral amino acid transmembrane transporter activity|peptide antigen binding	g.chr19:33355641G>A	AF141289	CCDS12425.1	19q13.11	2013-07-19	2013-07-19		ENSG00000021488	ENSG00000021488		"""Solute carriers"""	11067	protein-coding gene	gene with protein product		604144		CSNU3		10471498	Standard	NM_014270		Approved		uc021usa.1	P82251	OTTHUMG00000180287	ENST00000023064.4:c.129C>T	19.37:g.33355641G>A						SLC7A9_uc002ntt.3_Intron|SLC7A9_uc002ntu.3_Silent_p.I43I|SLC7A9_uc002ntw.3_Intron	p.I43I	NM_001126335	NP_001119807	P82251	BAT1_HUMAN			3	246	-	Esophageal squamous(110;0.137)		43			Helical; (Potential).		B2R9A6	Silent	SNP	ENST00000023064.4	37	c.129C>T	CCDS12425.1																																																																																				PASS	0.627	SLC7A9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450585.1			50	457	50	457	---	---	---	---
LRP3	4037	broad.mit.edu	37	19	33695616	33695616	+	Silent	SNP	A	A	C			TCGA-66-2766-01A-01D-1522-08	TCGA-66-2766-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	452b75d0-1818-46aa-8804-9cfc0bd66449	81a4d615-e95e-4c17-87f7-c06d8dd4975a	g.chr19:33695616A>C	ENST00000253193.7	+	4	535	c.333A>C	c.(331-333)ccA>ccC	p.P111P	CTD-2540B15.13_ENST00000609744.1_RNA	NM_002333.3	NP_002324.2	O75074	LRP3_HUMAN	low density lipoprotein receptor-related protein 3	111	CUB 1. {ECO:0000255|PROSITE- ProRule:PRU00059}.				receptor-mediated endocytosis (GO:0006898)	coated pit (GO:0005905)|integral component of membrane (GO:0016021)		p.P111P(1)		breast(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(1)|pancreas(2)	15	Esophageal squamous(110;0.137)					CAGCAGCCCCACCCCGCCAGG	0.662																																						uc010edh.2																			1	Substitution - coding silent(1)		lung(1)	pancreas(2)|ovary(1)	3						c.(331-333)CCA>CCC		low density lipoprotein receptor-related protein							56.0	59.0	58.0					19																	33695616		2203	4299	6502	SO:0001819	synonymous_variant	4037				receptor-mediated endocytosis	coated pit|integral to membrane	receptor activity	g.chr19:33695616A>C	AB009462	CCDS12430.1	19q13.11	2013-05-30			ENSG00000130881	ENSG00000130881		"""Low density lipoprotein receptors"""	6695	protein-coding gene	gene with protein product		603159				9693042, 7959795	Standard	NM_002333		Approved	LRP-3, hLRp105	uc010edh.3	O75074	OTTHUMG00000180343	ENST00000253193.7:c.333A>C	19.37:g.33695616A>C						LRP3_uc010xrp.1_5'UTR|LRP3_uc002nuk.3_5'UTR	p.P111P	NM_002333	NP_002324	O75074	LRP3_HUMAN			4	426	+	Esophageal squamous(110;0.137)		111			Extracellular (Potential).|CUB 1.		B3KQD6|B4DKF2	Silent	SNP	ENST00000253193.7	37	c.333A>C	CCDS12430.1																																																																																				PASS	0.662	LRP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450842.4			12	133	12	133	---	---	---	---
PEPD	5184	broad.mit.edu	37	19	33878385	33878385	+	Silent	SNP	G	G	A			TCGA-66-2766-01A-01D-1522-08	TCGA-66-2766-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	452b75d0-1818-46aa-8804-9cfc0bd66449	81a4d615-e95e-4c17-87f7-c06d8dd4975a	g.chr19:33878385G>A	ENST00000244137.7	-	15	1380	c.1347C>T	c.(1345-1347)gtC>gtT	p.V449V	PEPD_ENST00000591968.1_5'UTR|PEPD_ENST00000436370.3_Silent_p.V385V|PEPD_ENST00000397032.4_Silent_p.V408V	NM_000285.3	NP_000276.2	P12955	PEPD_HUMAN	peptidase D	449					cellular amino acid metabolic process (GO:0006520)|collagen catabolic process (GO:0030574)|proteolysis (GO:0006508)	extracellular vesicular exosome (GO:0070062)	aminopeptidase activity (GO:0004177)|dipeptidase activity (GO:0016805)|manganese ion binding (GO:0030145)|metallocarboxypeptidase activity (GO:0004181)	p.V449V(1)		endometrium(3)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)	17	Esophageal squamous(110;0.137)					CCTCGATGCGGACCTGGGTCA	0.612																																						uc002nur.3																			1	Substitution - coding silent(1)		lung(1)	ovary(2)	2						c.(1345-1347)GTC>GTT		prolidase isoform 1							67.0	69.0	68.0					19																	33878385		2105	4228	6333	SO:0001819	synonymous_variant	5184				cellular amino acid metabolic process|collagen catabolic process|proteolysis		aminopeptidase activity|dipeptidase activity|manganese ion binding|metallocarboxypeptidase activity	g.chr19:33878385G>A	BC015027	CCDS42544.1, CCDS54244.1, CCDS54245.1	19q13.11	2008-02-05				ENSG00000124299	3.4.13.9		8840	protein-coding gene	gene with protein product	"""prolidase"""	613230				2925654, 1972707	Standard	NM_000285		Approved		uc002nur.4	P12955		ENST00000244137.7:c.1347C>T	19.37:g.33878385G>A						PEPD_uc010xrr.1_Silent_p.V408V|PEPD_uc010xrs.1_Silent_p.V385V|PEPD_uc002nuq.3_Silent_p.V128V	p.V449V	NM_000285	NP_000276	P12955	PEPD_HUMAN			15	1482	-	Esophageal squamous(110;0.137)		449					A8K3Z1|A8K416|A8K696|A8MX47|B4DDB7|B4DGJ1|E9PCE8|Q8TBN9|Q9BT75	Silent	SNP	ENST00000244137.7	37	c.1347C>T	CCDS42544.1																																																																																				PASS	0.612	PEPD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451432.3	NM_000285		43	243	43	243	---	---	---	---
PDCD2L	84306	broad.mit.edu	37	19	34895654	34895654	+	Missense_Mutation	SNP	C	C	G	rs143274693		TCGA-66-2766-01A-01D-1522-08	TCGA-66-2766-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	452b75d0-1818-46aa-8804-9cfc0bd66449	81a4d615-e95e-4c17-87f7-c06d8dd4975a	g.chr19:34895654C>G	ENST00000246535.3	+	2	256	c.209C>G	c.(208-210)cCg>cGg	p.P70R	RP11-618P17.4_ENST00000606020.1_Missense_Mutation_p.P65R|PDCD2L_ENST00000587065.2_5'Flank	NM_032346.1	NP_115722.1	Q9BRP1	PDD2L_HUMAN	programmed cell death 2-like	70					cell cycle (GO:0007049)	cytoplasm (GO:0005737)|membrane (GO:0016020)		p.P70R(1)		breast(2)|kidney(1)|large_intestine(4)|lung(1)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.211)			GAAGGCTCCCCGTTTCACCGT	0.706																																						uc002nvj.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(208-210)CCG>CGG		programmed cell death 2-like							21.0	20.0	21.0					19																	34895654		2200	4297	6497	SO:0001583	missense	84306					cytoplasm		g.chr19:34895654C>G	BC006146	CCDS12438.1	19q13.11	2008-02-05				ENSG00000126249			28194	protein-coding gene	gene with protein product		615661				16311922	Standard	NM_032346		Approved	MGC13096	uc002nvj.3	Q9BRP1		ENST00000246535.3:c.209C>G	19.37:g.34895654C>G	ENSP00000246535:p.Pro70Arg						p.P70R	NM_032346	NP_115722	Q9BRP1	PDD2L_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.211)		2	242	+	Esophageal squamous(110;0.162)		70						Missense_Mutation	SNP	ENST00000246535.3	37	c.209C>G	CCDS12438.1	.	.	.	.	.	.	.	.	.	.	C	17.23	3.335995	0.60853	.	.	ENSG00000126249	ENST00000246535	.	.	.	5.04	5.04	0.67666	.	0.173611	0.51477	D	0.000087	T	0.68568	0.3015	M	0.79123	2.44	0.46478	D	0.999069	D	0.61080	0.989	P	0.57911	0.829	T	0.66312	-0.5955	9	0.16420	T	0.52	-16.6247	12.4449	0.55645	0.1673:0.8327:0.0:0.0	.	70	Q9BRP1	PDD2L_HUMAN	R	70	.	ENSP00000246535:P70R	P	+	2	0	PDCD2L	39587494	0.006000	0.16342	0.971000	0.41717	0.178000	0.23041	1.084000	0.30828	2.325000	0.78763	0.313000	0.20887	CCG		PASS	0.706	PDCD2L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459251.3	NM_032346		9	71	9	71	---	---	---	---
IGFLR1	79713	broad.mit.edu	37	19	36230925	36230925	+	Missense_Mutation	SNP	T	T	C			TCGA-66-2766-01A-01D-1522-08	TCGA-66-2766-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	452b75d0-1818-46aa-8804-9cfc0bd66449	81a4d615-e95e-4c17-87f7-c06d8dd4975a	g.chr19:36230925T>C	ENST00000592537.1	-	4	507	c.407A>G	c.(406-408)cAg>cGg	p.Q136R	IGFLR1_ENST00000588992.1_Intron|IGFLR1_ENST00000246532.1_Missense_Mutation_p.Q136R|IGFLR1_ENST00000587101.1_5'UTR|KMT2B_ENST00000607650.1_RNA|AD000671.6_ENST00000589807.1_3'UTR|IGFLR1_ENST00000592889.1_Intron|IGFLR1_ENST00000344990.3_Intron			Q9H665	IGFR1_HUMAN	IGF-like family receptor 1	136						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.Q136R(1)		endometrium(2)|kidney(3)|large_intestine(1)|lung(8)|prostate(1)	15						GCTGCGCTCCTGGGAGCTAGG	0.652																																						uc002obc.2																			1	Substitution - Missense(1)		lung(1)		0						c.(406-408)CAG>CGG		transmembrane protein 149 precursor							33.0	36.0	35.0					19																	36230925		2203	4300	6503	SO:0001583	missense	79713					integral to membrane|plasma membrane	protein binding|receptor activity	g.chr19:36230925T>C	AK026226	CCDS12472.1	19q13.12	2012-10-02	2011-04-04	2011-04-04	ENSG00000126246	ENSG00000126246			23620	protein-coding gene	gene with protein product		614143	"""U2(RNU2) small nuclear RNA auxiliary factor 1-like 4"", ""transmembrane protein 149"""	U2AF1L4, TMEM149		21454693	Standard	NM_024660		Approved	FLJ22573	uc002obd.4	Q9H665		ENST00000592537.1:c.407A>G	19.37:g.36230925T>C	ENSP00000466181:p.Gln136Arg					TMEM149_uc002obb.2_Intron|TMEM149_uc002obd.3_Missense_Mutation_p.Q136R|TMEM149_uc010xsy.1_RNA|TMEM149_uc010eej.2_Missense_Mutation_p.Q216R	p.Q136R	NM_024660	NP_078936	Q9H665	IGFR1_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0515)		4	508	-	all_lung(56;3.33e-07)|Lung NSC(56;5.02e-07)|Esophageal squamous(110;0.162)		136			Extracellular (Potential).		Q8N5X0	Missense_Mutation	SNP	ENST00000592537.1	37	c.407A>G	CCDS12472.1	.	.	.	.	.	.	.	.	.	.	t	9.636	1.137729	0.21123	.	.	ENSG00000126246	ENST00000246532	D	0.92299	-3.01	3.61	-0.144	0.13440	.	1.605610	0.03607	N	0.234337	D	0.86560	0.5962	L	0.51422	1.61	0.18873	N	0.999988	B	0.25312	0.123	B	0.19666	0.026	T	0.69375	-0.5162	10	0.08837	T	0.75	-0.0499	4.0214	0.09667	0.0:0.1321:0.451:0.4168	.	136	Q9H665	IGFR1_HUMAN	R	136	ENSP00000246532:Q136R	ENSP00000246532:Q136R	Q	-	2	0	IGFLR1	40922765	0.000000	0.05858	0.182000	0.23118	0.206000	0.24218	0.014000	0.13333	0.385000	0.24970	0.249000	0.18162	CAG		PASS	0.652	IGFLR1-002	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459077.1	NM_024660		114	53	114	53	---	---	---	---
NPHS1	4868	broad.mit.edu	37	19	36339015	36339015	+	Silent	SNP	C	C	A	rs141962470		TCGA-66-2766-01A-01D-1522-08	TCGA-66-2766-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	452b75d0-1818-46aa-8804-9cfc0bd66449	81a4d615-e95e-4c17-87f7-c06d8dd4975a	g.chr19:36339015C>A	ENST00000378910.5	-	11	1367	c.1368G>T	c.(1366-1368)cgG>cgT	p.R456R	NPHS1_ENST00000353632.6_Silent_p.R456R	NM_004646.3	NP_004637.1	O60500	NPHN_HUMAN	nephrosis 1, congenital, Finnish type (nephrin)	456	Ig-like C2-type 5.				cell adhesion (GO:0007155)|excretion (GO:0007588)|glomerular basement membrane development (GO:0032836)|glomerular visceral epithelial cell development (GO:0072015)|JNK cascade (GO:0007254)|myoblast fusion (GO:0007520)|positive regulation of actin filament polymerization (GO:0030838)|regulation of excretion (GO:0044062)|skeletal muscle tissue development (GO:0007519)	cell projection (GO:0042995)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|slit diaphragm (GO:0036057)	myosin binding (GO:0017022)	p.R456R(1)		NS(2)|breast(1)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(1)|lung(26)|ovary(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	74	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)			GGGTCCCAGCCCGGAGCTTCT	0.622																																						uc002oby.2																			1	Substitution - coding silent(1)		lung(1)	ovary(4)|skin(1)	5						c.(1366-1368)CGG>CGT		nephrin precursor							44.0	54.0	51.0					19																	36339015		2203	4300	6503	SO:0001819	synonymous_variant	4868				cell adhesion|excretion|muscle organ development	integral to plasma membrane		g.chr19:36339015C>A		CCDS32996.1	19q12-q13.1	2014-09-17				ENSG00000161270		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	7908	protein-coding gene	gene with protein product		602716				9915943, 9660941	Standard	NM_004646		Approved	CNF, NPHN	uc002oby.3	O60500		ENST00000378910.5:c.1368G>T	19.37:g.36339015C>A							p.R456R	NM_004646	NP_004637	O60500	NPHN_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0515)		11	1368	-	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		456			Extracellular (Potential).|Ig-like C2-type 5.		A6NDH2|C3RX61	Silent	SNP	ENST00000378910.5	37	c.1368G>T	CCDS32996.1																																																																																				PASS	0.622	NPHS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452553.1			75	298	75	298	---	---	---	---
TYROBP	7305	broad.mit.edu	37	19	36398483	36398483	+	Splice_Site	SNP	C	C	T			TCGA-66-2766-01A-01D-1522-08	TCGA-66-2766-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	452b75d0-1818-46aa-8804-9cfc0bd66449	81a4d615-e95e-4c17-87f7-c06d8dd4975a	g.chr19:36398483C>T	ENST00000262629.4	-	3	161		c.e3-1		TYROBP_ENST00000424586.3_Splice_Site|TYROBP_ENST00000544690.2_Splice_Site|TYROBP_ENST00000589517.1_Splice_Site|TYROBP_ENST00000585901.2_Splice_Site	NM_003332.3|NM_198125.2	NP_003323.1|NP_937758.1	O43914	TYOBP_HUMAN	TYRO protein tyrosine kinase binding protein						axon guidance (GO:0007411)|cellular defense response (GO:0006968)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|intracellular signal transduction (GO:0035556)|macrophage activation involved in immune response (GO:0002281)|neutrophil activation involved in immune response (GO:0002283)|regulation of immune response (GO:0050776)|regulation of osteoclast development (GO:2001204)|signal transduction (GO:0007165)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	identical protein binding (GO:0042802)|receptor binding (GO:0005102)|receptor signaling protein activity (GO:0005057)	p.?(1)		NS(1)|central_nervous_system(1)|large_intestine(1)|lung(4)|skin(1)	8	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)			CAACTGCAATCTGCAGCACAG	0.632																																						uc002ocm.2																			1	Unknown(1)		lung(1)		0						c.e3-1		TYRO protein tyrosine kinase binding protein							38.0	38.0	38.0					19																	36398483		2203	4300	6503	SO:0001630	splice_region_variant	7305				axon guidance|cell junction assembly|cellular defense response|intracellular signal transduction|regulation of immune response	integral to plasma membrane|intracellular	identical protein binding|receptor signaling protein activity	g.chr19:36398483C>T	AF019563	CCDS12482.1, CCDS46058.1, CCDS54255.1, CCDS59378.1	19q13.1	2014-09-17				ENSG00000011600			12449	protein-coding gene	gene with protein product	"""killer activating receptor associated protein"", ""DNAX-activation protein 12"""	604142		PLOSL		9490415, 10888890	Standard	NM_003332		Approved	DAP12, PLO-SL, KARAP	uc002ocm.3	O43914		ENST00000262629.4:c.95-1G>A	19.37:g.36398483C>T						TYROBP_uc002ocn.2_Splice_Site_p.D32_splice	p.D32_splice	NM_003332	NP_003323	O43914	TYOBP_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0515)		3	151	-	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)							A8K2X0|F5H389|Q6FGA5|Q9UMT3	Splice_Site	SNP	ENST00000262629.4	37	c.95_splice	CCDS12482.1	.	.	.	.	.	.	.	.	.	.	C	9.322	1.058259	0.19987	.	.	ENSG00000011600	ENST00000262629;ENST00000424586;ENST00000544690	.	.	.	4.62	3.56	0.40772	.	.	.	.	.	.	.	.	.	.	.	0.38784	D	0.954835	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.9425	0.35738	0.0:0.8964:0.0:0.1036	.	.	.	.	.	-1	.	.	.	-	.	.	TYROBP	41090323	0.968000	0.33430	0.049000	0.19019	0.016000	0.09150	2.381000	0.44336	1.130000	0.42092	0.591000	0.81541	.		PASS	0.632	TYROBP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000457397.1		Intron	22	121	22	121	---	---	---	---
ZNF790	388536	broad.mit.edu	37	19	37309846	37309846	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2766-01A-01D-1522-08	TCGA-66-2766-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	452b75d0-1818-46aa-8804-9cfc0bd66449	81a4d615-e95e-4c17-87f7-c06d8dd4975a	g.chr19:37309846C>T	ENST00000356725.4	-	5	1520	c.1400G>A	c.(1399-1401)cGa>cAa	p.R467Q	CTD-2162K18.5_ENST00000587278.1_RNA|CTD-2162K18.5_ENST00000588906.1_RNA	NM_001242802.1|NM_206894.3	NP_001229731.1|NP_996777.2	Q6PG37	ZN790_HUMAN	zinc finger protein 790	467					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.R467Q(1)		biliary_tract(1)|endometrium(2)|kidney(2)|large_intestine(14)|lung(7)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	32	Esophageal squamous(110;0.183)		COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065)			TTTCTGATGTCGATTAAACTC	0.368																																						uc002oew.2																			1	Substitution - Missense(1)		lung(1)	upper_aerodigestive_tract(1)|skin(1)	2						c.(1399-1401)CGA>CAA		zinc finger protein 790							69.0	70.0	70.0					19																	37309846		2203	4300	6503	SO:0001583	missense	388536				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:37309846C>T	BC057245	CCDS12496.1	19q13.12	2013-01-08			ENSG00000197863	ENSG00000197863		"""Zinc fingers, C2H2-type"", ""-"""	33114	protein-coding gene	gene with protein product							Standard	NM_206894		Approved	MGC62100, FLJ20350	uc021utm.1	Q6PG37	OTTHUMG00000165616	ENST00000356725.4:c.1400G>A	19.37:g.37309846C>T	ENSP00000349161:p.Arg467Gln					uc002oev.1_Intron	p.R467Q	NM_206894	NP_996777	Q6PG37	ZN790_HUMAN	COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065)		5	1519	-	Esophageal squamous(110;0.183)		467			C2H2-type 10.			Missense_Mutation	SNP	ENST00000356725.4	37	c.1400G>A	CCDS12496.1	.	.	.	.	.	.	.	.	.	.	C	5.433	0.264994	0.10294	.	.	ENSG00000197863	ENST00000356725	T	0.26223	1.75	3.14	-0.212	0.13169	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.09024	0.0223	N	0.25957	0.775	0.09310	N	1	P	0.41929	0.765	B	0.22386	0.039	T	0.23190	-1.0195	9	0.02654	T	1	.	6.8709	0.24121	0.0:0.5628:0.0:0.4372	.	467	Q6PG37	ZN790_HUMAN	Q	467	ENSP00000349161:R467Q	ENSP00000349161:R467Q	R	-	2	0	ZNF790	42001686	0.000000	0.05858	0.000000	0.03702	0.842000	0.47809	-7.797000	0.00029	0.175000	0.19841	0.491000	0.48974	CGA		PASS	0.368	ZNF790-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385341.2	NM_206894		6	459	6	459	---	---	---	---
CATSPERG	57828	broad.mit.edu	37	19	38851187	38851187	+	Nonsense_Mutation	SNP	G	G	A			TCGA-66-2766-01A-01D-1522-08	TCGA-66-2766-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	452b75d0-1818-46aa-8804-9cfc0bd66449	81a4d615-e95e-4c17-87f7-c06d8dd4975a	g.chr19:38851187G>A	ENST00000409235.3	+	15	1782	c.1667G>A	c.(1666-1668)tGg>tAg	p.W556*	CATSPERG_ENST00000215069.4_Missense_Mutation_p.G512S|CATSPERG_ENST00000410018.1_Nonsense_Mutation_p.W516*|AC005625.1_ENST00000590304.1_RNA	NM_021185.4	NP_067008.3	Q6ZRH7	CTSRG_HUMAN	catsper channel auxiliary subunit gamma	556					cell differentiation (GO:0030154)|multicellular organism reproduction (GO:0032504)|multicellular organismal development (GO:0007275)|single fertilization (GO:0007338)|sperm-egg recognition (GO:0035036)|spermatogenesis (GO:0007283)	CatSper complex (GO:0036128)|plasma membrane (GO:0005886)|sperm principal piece (GO:0097228)		p.W196*(1)		breast(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(13)|ovary(1)|pancreas(2)|prostate(6)|skin(3)|stomach(1)|urinary_tract(2)	40						TCCAAGGGCTGGCAGGTGCAC	0.552																																						uc002oih.3																			1	Substitution - Nonsense(1)		lung(1)	ovary(1)|skin(1)	2						c.(1666-1668)TGG>TAG		cation channel, sperm-associated, gamma							104.0	96.0	98.0					19																	38851187		2203	4300	6503	SO:0001587	stop_gained	57828				cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane		g.chr19:38851187G>A	AK128220	CCDS12514.2	19q13.1	2014-05-13	2012-02-22	2009-07-17	ENSG00000099338	ENSG00000099338			25243	protein-coding gene	gene with protein product		613452	"""chromosome 19 open reading frame 15"", ""cation channel, sperm-associated, gamma"""	C19orf15		19516020	Standard	NM_021185		Approved	DKFZp434A1022, FLJ46353	uc002oih.4	Q6ZRH7	OTTHUMG00000153223	ENST00000409235.3:c.1667G>A	19.37:g.38851187G>A	ENSP00000386962:p.Trp556*					CATSPERG_uc002oig.3_Nonsense_Mutation_p.W516*|CATSPERG_uc002oif.3_Nonsense_Mutation_p.W196*|CATSPERG_uc010efw.2_RNA	p.W556*	NM_021185	NP_067008	Q6ZRH7	CTSRG_HUMAN			15	1754	+			556			Extracellular (Potential).		A6NEG6|Q659E1	Nonsense_Mutation	SNP	ENST00000409235.3	37	c.1667G>A	CCDS12514.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	28.3|28.3	4.905974|4.905974	0.92107|0.92107	.|.	.|.	ENSG00000099338|ENSG00000099338	ENST00000215069|ENST00000410018;ENST00000409235;ENST00000409410	T|.	0.50277|.	0.75|.	4.59|4.59	4.59|4.59	0.56863|0.56863	.|.	.|0.277816	.|0.26345	.|N	.|0.024919	T|.	0.43166|.	0.1235|.	.|.	.|.	.|.	0.27444|0.27444	N|N	0.953641|0.953641	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.32613|.	-0.9900|.	6|.	0.87932|.	D|.	0|.	-16.2838|-16.2838	13.0775|13.0775	0.59095|0.59095	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|.	.|.	.|.	S|X	512|516;556;556	ENSP00000215069:G512S|.	ENSP00000215069:G512S|.	G|W	+|+	1|2	0|0	CATSPERG|CATSPERG	43543027|43543027	1.000000|1.000000	0.71417|0.71417	0.988000|0.988000	0.46212|0.46212	0.007000|0.007000	0.05969|0.05969	4.988000|4.988000	0.63863|0.63863	2.564000|2.564000	0.86499|0.86499	0.467000|0.467000	0.42956|0.42956	GGC|TGG		PASS	0.552	CATSPERG-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000330204.1	NM_021185		310	65	310	65	---	---	---	---
SERTAD3	29946	broad.mit.edu	37	19	40947845	40947845	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2766-01A-01D-1522-08	TCGA-66-2766-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	452b75d0-1818-46aa-8804-9cfc0bd66449	81a4d615-e95e-4c17-87f7-c06d8dd4975a	g.chr19:40947845C>T	ENST00000322354.3	-	2	639	c.143G>A	c.(142-144)cGa>cAa	p.R48Q	CTC-492K19.4_ENST00000599050.1_RNA|SERTAD3_ENST00000601217.1_5'Flank|SERTAD3_ENST00000392028.4_Missense_Mutation_p.R48Q	NM_203344.2	NP_976219.1	Q9UJW9	SRTD3_HUMAN	SERTA domain containing 3	48	SERTA. {ECO:0000255|PROSITE- ProRule:PRU00396}.				negative regulation of cell growth (GO:0030308)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)		p.R48Q(1)		kidney(1)|large_intestine(4)|lung(2)	7			Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384)			GCTGGGTGCTCGGGGGCCCAG	0.672																																						uc002onu.3																			1	Substitution - Missense(1)		lung(1)		0						c.(142-144)CGA>CAA		RPA-binding trans-activator							29.0	25.0	26.0					19																	40947845		2203	4300	6503	SO:0001583	missense	29946				negative regulation of cell growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding	g.chr19:40947845C>T	AF192529	CCDS12558.1	19q13.2	2008-02-05				ENSG00000167565			17931	protein-coding gene	gene with protein product	"""RPA-binding trans-activator"""	612125				10982866, 11331592	Standard	NM_013368		Approved	RBT1	uc002onv.4	Q9UJW9		ENST00000322354.3:c.143G>A	19.37:g.40947845C>T	ENSP00000325414:p.Arg48Gln					SERTAD3_uc002onv.3_Missense_Mutation_p.R48Q	p.R48Q	NM_013368	NP_037500	Q9UJW9	SRTD3_HUMAN	Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384)		2	421	-			48			SERTA.		B3KQB3|Q96CQ2	Missense_Mutation	SNP	ENST00000322354.3	37	c.143G>A	CCDS12558.1	.	.	.	.	.	.	.	.	.	.	C	15.44	2.835380	0.50951	.	.	ENSG00000167565	ENST00000322354;ENST00000392028	.	.	.	4.02	3.0	0.34707	.	0.454109	0.17831	N	0.160539	T	0.33147	0.0853	N	0.08118	0	0.32483	N	0.541295	D	0.61697	0.99	P	0.57911	0.829	T	0.33574	-0.9863	9	0.33141	T	0.24	0.1966	7.5413	0.27740	0.0:0.8861:0.0:0.1139	.	48	Q9UJW9	SRTD3_HUMAN	Q	48	.	ENSP00000325414:R48Q	R	-	2	0	SERTAD3	45639685	0.086000	0.21541	0.980000	0.43619	0.932000	0.56968	0.222000	0.17699	1.285000	0.44548	0.655000	0.94253	CGA		PASS	0.672	SERTAD3-001	KNOWN	upstream_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462573.1	NM_013368		20	125	20	125	---	---	---	---
SPTBN4	57731	broad.mit.edu	37	19	40993684	40993684	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2766-01A-01D-1522-08	TCGA-66-2766-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	452b75d0-1818-46aa-8804-9cfc0bd66449	81a4d615-e95e-4c17-87f7-c06d8dd4975a	g.chr19:40993684G>T	ENST00000352632.3	+	3	336	c.250G>T	c.(250-252)Gac>Tac	p.D84Y	SPTBN4_ENST00000338932.3_Missense_Mutation_p.D84Y|SPTBN4_ENST00000598249.1_Missense_Mutation_p.D84Y|SPTBN4_ENST00000344104.3_Missense_Mutation_p.D84Y|SPTBN4_ENST00000595535.1_Missense_Mutation_p.D84Y			Q9H254	SPTN4_HUMAN	spectrin, beta, non-erythrocytic 4	84	Actin-binding.|CH 1. {ECO:0000255|PROSITE- ProRule:PRU00044}.				actin filament capping (GO:0051693)|adult walking behavior (GO:0007628)|axon guidance (GO:0007411)|axonogenesis (GO:0007409)|cardiac conduction (GO:0061337)|central nervous system projection neuron axonogenesis (GO:0021952)|clustering of voltage-gated sodium channels (GO:0045162)|cytoskeletal anchoring at plasma membrane (GO:0007016)|establishment of protein localization to plasma membrane (GO:0090002)|fertilization (GO:0009566)|negative regulation of heart rate (GO:0010459)|positive regulation of multicellular organism growth (GO:0040018)|regulation of peptidyl-serine phosphorylation (GO:0033135)|regulation of sodium ion transport (GO:0002028)|sensory perception of sound (GO:0007605)|transmission of nerve impulse (GO:0019226)|vesicle-mediated transport (GO:0016192)	adherens junction (GO:0005912)|axon hillock (GO:0043203)|axon initial segment (GO:0043194)|cell body fiber (GO:0070852)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|node of Ranvier (GO:0033268)|nuclear matrix (GO:0016363)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|PML body (GO:0016605)|spectrin (GO:0008091)	actin binding (GO:0003779)|ankyrin binding (GO:0030506)|phosphatase binding (GO:0019902)|phospholipid binding (GO:0005543)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)	p.D84Y(1)		breast(4)|central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	73			Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)			CCACATCGGGGACCTCTATGT	0.657																																						uc002ony.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|central_nervous_system(1)|skin(1)	5						c.(250-252)GAC>TAC		spectrin, beta, non-erythrocytic 4 isoform							40.0	41.0	41.0					19																	40993684		2203	4300	6503	SO:0001583	missense	57731				actin filament capping|axon guidance|cytoskeletal anchoring at plasma membrane|vesicle-mediated transport	cytosol|nuclear matrix|PML body|spectrin	actin binding|ankyrin binding|structural constituent of cytoskeleton	g.chr19:40993684G>T	AF082075	CCDS12559.1, CCDS42569.1	19q13.13	2013-01-10				ENSG00000160460		"""Pleckstrin homology (PH) domain containing"""	14896	protein-coding gene	gene with protein product		606214				11086001	Standard	NM_020971		Approved	SPTBN3, KIAA1642	uc002onz.3	Q9H254		ENST00000352632.3:c.250G>T	19.37:g.40993684G>T	ENSP00000263373:p.Asp84Tyr					SPTBN4_uc002onx.2_Missense_Mutation_p.D84Y|SPTBN4_uc002onz.2_Missense_Mutation_p.D84Y	p.D84Y	NM_020971	NP_066022	Q9H254	SPTN4_HUMAN	Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)		3	336	+			84			CH 1.|Actin-binding.		E9PGQ5|Q9H1K7|Q9H1K8|Q9H1K9|Q9H253|Q9H3G8|Q9HCD0	Missense_Mutation	SNP	ENST00000352632.3	37	c.250G>T	CCDS12559.1	.	.	.	.	.	.	.	.	.	.	G	26.5	4.742015	0.89573	.	.	ENSG00000160460	ENST00000428507;ENST00000352632;ENST00000338932;ENST00000344104	T;T;T	0.68025	-0.3;-0.3;-0.3	4.28	4.28	0.50868	Calponin homology domain (5);	0.000000	0.64402	U	0.000018	D	0.87920	0.6299	H	0.97564	4.03	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.992	D	0.92395	0.5924	10	0.87932	D	0	.	15.6338	0.76933	0.0:0.0:1.0:0.0	.	84;84	Q9H254;Q71S06	SPTN4_HUMAN;.	Y	84	ENSP00000263373:D84Y;ENSP00000340345:D84Y;ENSP00000340741:D84Y	ENSP00000340345:D84Y	D	+	1	0	SPTBN4	45685524	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.611000	0.98342	2.215000	0.71742	0.591000	0.81541	GAC		PASS	0.657	SPTBN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462559.2			34	241	34	241	---	---	---	---
SPTBN4	57731	broad.mit.edu	37	19	41060526	41060526	+	Silent	SNP	G	G	T			TCGA-66-2766-01A-01D-1522-08	TCGA-66-2766-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	452b75d0-1818-46aa-8804-9cfc0bd66449	81a4d615-e95e-4c17-87f7-c06d8dd4975a	g.chr19:41060526G>T	ENST00000352632.3	+	24	5144	c.5058G>T	c.(5056-5058)gcG>gcT	p.A1686A	SPTBN4_ENST00000392023.1_Silent_p.A362A|SPTBN4_ENST00000338932.3_Silent_p.A1686A|SPTBN4_ENST00000392025.1_Silent_p.A429A|SPTBN4_ENST00000598249.1_Silent_p.A1686A|SPTBN4_ENST00000595535.1_Silent_p.A1686A			Q9H254	SPTN4_HUMAN	spectrin, beta, non-erythrocytic 4	1686					actin filament capping (GO:0051693)|adult walking behavior (GO:0007628)|axon guidance (GO:0007411)|axonogenesis (GO:0007409)|cardiac conduction (GO:0061337)|central nervous system projection neuron axonogenesis (GO:0021952)|clustering of voltage-gated sodium channels (GO:0045162)|cytoskeletal anchoring at plasma membrane (GO:0007016)|establishment of protein localization to plasma membrane (GO:0090002)|fertilization (GO:0009566)|negative regulation of heart rate (GO:0010459)|positive regulation of multicellular organism growth (GO:0040018)|regulation of peptidyl-serine phosphorylation (GO:0033135)|regulation of sodium ion transport (GO:0002028)|sensory perception of sound (GO:0007605)|transmission of nerve impulse (GO:0019226)|vesicle-mediated transport (GO:0016192)	adherens junction (GO:0005912)|axon hillock (GO:0043203)|axon initial segment (GO:0043194)|cell body fiber (GO:0070852)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|node of Ranvier (GO:0033268)|nuclear matrix (GO:0016363)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|PML body (GO:0016605)|spectrin (GO:0008091)	actin binding (GO:0003779)|ankyrin binding (GO:0030506)|phosphatase binding (GO:0019902)|phospholipid binding (GO:0005543)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)	p.A362A(1)|p.A1686A(1)		breast(4)|central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	73			Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)			AGTGCCGGGCGCTGCTGGAGA	0.642																																						uc002ony.2																			2	Substitution - coding silent(2)		lung(2)	ovary(3)|central_nervous_system(1)|skin(1)	5						c.(5056-5058)GCG>GCT		spectrin, beta, non-erythrocytic 4 isoform							14.0	14.0	14.0					19																	41060526		2192	4291	6483	SO:0001819	synonymous_variant	57731				actin filament capping|axon guidance|cytoskeletal anchoring at plasma membrane|vesicle-mediated transport	cytosol|nuclear matrix|PML body|spectrin	actin binding|ankyrin binding|structural constituent of cytoskeleton	g.chr19:41060526G>T	AF082075	CCDS12559.1, CCDS42569.1	19q13.13	2013-01-10				ENSG00000160460		"""Pleckstrin homology (PH) domain containing"""	14896	protein-coding gene	gene with protein product		606214				11086001	Standard	NM_020971		Approved	SPTBN3, KIAA1642	uc002onz.3	Q9H254		ENST00000352632.3:c.5058G>T	19.37:g.41060526G>T						SPTBN4_uc002onx.2_Silent_p.A1686A|SPTBN4_uc002onz.2_Silent_p.A1686A|SPTBN4_uc010egx.2_Silent_p.A429A|SPTBN4_uc010egy.1_Silent_p.A362A|SPTBN4_uc002ooa.2_Silent_p.A362A	p.A1686A	NM_020971	NP_066022	Q9H254	SPTN4_HUMAN	Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)		24	5144	+			1686			Spectrin 14.		E9PGQ5|Q9H1K7|Q9H1K8|Q9H1K9|Q9H253|Q9H3G8|Q9HCD0	Silent	SNP	ENST00000352632.3	37	c.5058G>T	CCDS12559.1																																																																																				PASS	0.642	SPTBN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462559.2			3	62	3	62	---	---	---	---
LTBP4	8425	broad.mit.edu	37	19	41125266	41125266	+	Missense_Mutation	SNP	G	G	A			TCGA-66-2766-01A-01D-1522-08	TCGA-66-2766-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	452b75d0-1818-46aa-8804-9cfc0bd66449	81a4d615-e95e-4c17-87f7-c06d8dd4975a	g.chr19:41125266G>A	ENST00000308370.7	+	26	3283	c.3283G>A	c.(3283-3285)Gaa>Aaa	p.E1095K	LTBP4_ENST00000602240.1_3'UTR|LTBP4_ENST00000396819.3_Missense_Mutation_p.E1028K|LTBP4_ENST00000204005.9_Missense_Mutation_p.E1058K|LTBP4_ENST00000243562.9_Missense_Mutation_p.E149K|LTBP4_ENST00000545697.1_Missense_Mutation_p.E463K	NM_001042544.1	NP_001036009.1	Q8N2S1	LTBP4_HUMAN	latent transforming growth factor beta binding protein 4	1096	Cys-rich.				extracellular matrix organization (GO:0030198)|growth hormone secretion (GO:0030252)|multicellular organismal development (GO:0007275)|protein folding (GO:0006457)|regulation of cell differentiation (GO:0045595)|regulation of cell growth (GO:0001558)|regulation of proteolysis (GO:0030162)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|transforming growth factor beta receptor signaling pathway (GO:0007179)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|glycosaminoglycan binding (GO:0005539)|integrin binding (GO:0005178)|transforming growth factor beta binding (GO:0050431)|transforming growth factor beta-activated receptor activity (GO:0005024)	p.E1095K(1)		central_nervous_system(1)	1			Lung(22;0.000158)|LUSC - Lung squamous cell carcinoma(20;0.000384)			GAACGAGTGTGAAACACTACA	0.498																																						uc002ooh.1																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1						c.(3286-3288)GAA>AAA		latent transforming growth factor beta binding							136.0	137.0	137.0					19																	41125266		1992	4162	6154	SO:0001583	missense	8425				growth hormone secretion|multicellular organismal development|protein folding|regulation of cell differentiation|regulation of cell growth|regulation of proteolysis|regulation of transforming growth factor beta receptor signaling pathway	extracellular space|proteinaceous extracellular matrix	calcium ion binding|glycosaminoglycan binding|integrin binding|transforming growth factor beta binding|transforming growth factor beta receptor activity	g.chr19:41125266G>A	Y13622	CCDS74368.1, CCDS74369.1, CCDS74370.1	19q13.1-q13.2	2011-10-20				ENSG00000090006		"""Latent transforming growth factor, beta binding proteins"""	6717	protein-coding gene	gene with protein product		604710				9660815, 9271198	Standard	NM_003573		Approved	LTBP-4, LTBP-4L, FLJ46318, FLJ90018	uc002ooh.1	Q8N2S1		ENST00000308370.7:c.3283G>A	19.37:g.41125266G>A	ENSP00000311905:p.Glu1095Lys					LTBP4_uc002oog.1_Missense_Mutation_p.E1059K|LTBP4_uc002ooi.1_Missense_Mutation_p.E1029K|LTBP4_uc002ooj.1_5'UTR|LTBP4_uc002ook.1_Missense_Mutation_p.E230K|LTBP4_uc002ool.1_Missense_Mutation_p.E108K|LTBP4_uc002oom.1_RNA|LTBP4_uc010xvp.1_5'UTR	p.E1096K	NM_001042544	NP_001036009	Q8N2S1	LTBP4_HUMAN	Lung(22;0.000158)|LUSC - Lung squamous cell carcinoma(20;0.000384)		26	3286	+			1096			Cys-rich.		O00508|O75412|O75413	Missense_Mutation	SNP	ENST00000308370.7	37	c.3286G>A		.	.	.	.	.	.	.	.	.	.	G	17.13	3.311675	0.60414	.	.	ENSG00000090006	ENST00000204005;ENST00000545697;ENST00000308370;ENST00000396819;ENST00000243562	D;D;D;D;D	0.91996	-2.95;-2.95;-2.95;-2.95;-2.95	3.86	3.86	0.44501	EGF-like calcium-binding, conserved site (1);Epidermal growth factor-like (1);EGF-like calcium-binding (1);	0.000000	0.37761	N	0.001948	D	0.94814	0.8325	.	.	.	0.80722	D	1	P;D;D;P;D	0.65815	0.884;0.994;0.995;0.95;0.992	B;D;D;P;D	0.80764	0.42;0.977;0.994;0.625;0.93	D	0.93781	0.7084	9	0.40728	T	0.16	.	11.1712	0.48573	0.0:0.1878:0.8122:0.0	.	108;316;1028;1096;1058	Q8N2S1-4;B3KXY6;E7EUU1;Q8N2S1;E7ENG9	.;.;.;LTBP4_HUMAN;.	K	1058;463;1095;1028;149	ENSP00000204005:E1058K;ENSP00000441054:E463K;ENSP00000311905:E1095K;ENSP00000380031:E1028K;ENSP00000243562:E149K	ENSP00000204005:E1058K	E	+	1	0	LTBP4	45817106	1.000000	0.71417	0.993000	0.49108	0.438000	0.31896	7.514000	0.81750	2.162000	0.67917	0.313000	0.20887	GAA		PASS	0.498	LTBP4-203	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_003573		178	640	178	640	---	---	---	---
FPR3	2359	broad.mit.edu	37	19	52327118	52327118	+	Silent	SNP	C	C	T	rs369595664		TCGA-66-2766-01A-01D-1522-08	TCGA-66-2766-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	452b75d0-1818-46aa-8804-9cfc0bd66449	81a4d615-e95e-4c17-87f7-c06d8dd4975a	g.chr19:52327118C>T	ENST00000339223.4	+	2	296	c.117C>T	c.(115-117)ttC>ttT	p.F39F	FPR3_ENST00000595991.1_Silent_p.F39F	NM_002030.3	NP_002021.3	P25089	FPR3_HUMAN	formyl peptide receptor 3	39					cellular component movement (GO:0006928)|chemotaxis (GO:0006935)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	N-formyl peptide receptor activity (GO:0004982)	p.F39F(1)		NS(1)|breast(3)|endometrium(3)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(3)	35						CCTTTGTCTTCGGGGTCCTGG	0.552																																						uc002pxt.1																			1	Substitution - coding silent(1)		lung(1)	lung(4)|breast(1)|skin(1)	6						c.(115-117)TTC>TTT		formyl peptide receptor-like 2		C		0,4406		0,0,2203	155.0	124.0	135.0		117	-4.4	0.1	19		135	1,8599		0,1,4299	no	coding-synonymous	FPR3	NM_002030.3		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		39/354	52327118	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	2359				cellular component movement|chemotaxis	integral to membrane|plasma membrane	N-formyl peptide receptor activity	g.chr19:52327118C>T		CCDS12841.1	19q13.3-q13.4	2012-08-08	2008-04-17	2008-04-17		ENSG00000187474		"""GPCR / Class A : Formyl peptide receptors"""	3828	protein-coding gene	gene with protein product		136539	"""formyl peptide receptor-like 2"""	FPRL2		1612600, 8198572	Standard	NM_002030		Approved	FPRH1, FMLPY, RMLP-R-I	uc002pxt.1	P25089		ENST00000339223.4:c.117C>T	19.37:g.52327118C>T							p.F39F	NM_002030	NP_002021	P25089	FPR3_HUMAN			2	301	+			39			Helical; Name=1; (Potential).			Silent	SNP	ENST00000339223.4	37	c.117C>T	CCDS12841.1																																																																																				PASS	0.552	FPR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466914.1	NM_002030		100	31	100	31	---	---	---	---
SYT5	6861	broad.mit.edu	37	19	55685915	55685915	+	Missense_Mutation	SNP	G	G	C			TCGA-66-2766-01A-01D-1522-08	TCGA-66-2766-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	452b75d0-1818-46aa-8804-9cfc0bd66449	81a4d615-e95e-4c17-87f7-c06d8dd4975a	g.chr19:55685915G>C	ENST00000354308.3	-	8	1299	c.930C>G	c.(928-930)ttC>ttG	p.F310L	SYT5_ENST00000590851.1_Missense_Mutation_p.F306L|CTD-2587H24.5_ENST00000591665.1_RNA|SYT5_ENST00000537500.1_Missense_Mutation_p.F310L|SYT5_ENST00000592935.1_5'Flank	NM_003180.2	NP_003171.2	O00445	SYT5_HUMAN	synaptotagmin V	310	C2 2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				calcium ion-dependent exocytosis (GO:0017156)|energy reserve metabolic process (GO:0006112)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|dense core granule (GO:0031045)|endosome (GO:0005768)|integral component of membrane (GO:0016021)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|synaptic vesicle (GO:0008021)	calcium-dependent phospholipid binding (GO:0005544)|metal ion binding (GO:0046872)|transporter activity (GO:0005215)	p.F310L(1)		kidney(2)|large_intestine(5)|lung(6)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	18			BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0452)		CCTCGAAGCTGAAAGCTTCGT	0.532																																						uc002qjm.1																			1	Substitution - Missense(1)		lung(1)		0						c.(928-930)TTC>TTG		synaptotagmin V							189.0	182.0	185.0					19																	55685915		2203	4300	6503	SO:0001583	missense	6861				energy reserve metabolic process|regulation of insulin secretion|synaptic transmission	cell junction|integral to membrane|recycling endosome membrane|synaptic vesicle membrane	metal ion binding|transporter activity	g.chr19:55685915G>C	X96783	CCDS12919.1, CCDS74455.1	19q13.42	2014-07-02			ENSG00000129990	ENSG00000129990		"""Synaptotagmins"""	11513	protein-coding gene	gene with protein product	"""synaptotagmin 5"""	600782				9177789	Standard	XM_006723338		Approved		uc002qjn.1	O00445	OTTHUMG00000180669	ENST00000354308.3:c.930C>G	19.37:g.55685915G>C	ENSP00000346265:p.Phe310Leu					SYT5_uc002qjp.2_Missense_Mutation_p.F306L|SYT5_uc002qjn.1_Missense_Mutation_p.F310L|SYT5_uc002qjo.1_Missense_Mutation_p.F309L	p.F310L	NM_003180	NP_003171	O00445	SYT5_HUMAN	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0452)	7	1990	-			310			Cytoplasmic (Potential).|C2 2.		B3KWJ8|B7Z300|Q86X72	Missense_Mutation	SNP	ENST00000354308.3	37	c.930C>G	CCDS12919.1	.	.	.	.	.	.	.	.	.	.	G	22.3	4.267826	0.80469	.	.	ENSG00000129990	ENST00000537500;ENST00000354308;ENST00000543844	T;T	0.76060	-0.99;-0.99	3.42	2.39	0.29439	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.000000	0.85682	D	0.000000	T	0.78923	0.4360	L	0.48260	1.515	0.52501	D	0.999955	P;D;D	0.76494	0.653;0.999;0.963	P;D;P	0.75020	0.7;0.985;0.7	T	0.77590	-0.2531	10	0.49607	T	0.09	.	10.0094	0.41977	0.1058:0.0:0.8942:0.0	.	306;309;310	B7Z300;Q4FD32;O00445	.;.;SYT5_HUMAN	L	310;310;306	ENSP00000442896:F310L;ENSP00000346265:F310L	ENSP00000346265:F310L	F	-	3	2	SYT5	60377727	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	2.200000	0.42724	1.019000	0.39547	0.561000	0.74099	TTC		PASS	0.532	SYT5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452501.1	NM_003180		89	172	89	172	---	---	---	---
BRSK1	84446	broad.mit.edu	37	19	55815139	55815139	+	Missense_Mutation	SNP	G	G	A			TCGA-66-2766-01A-01D-1522-08	TCGA-66-2766-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	452b75d0-1818-46aa-8804-9cfc0bd66449	81a4d615-e95e-4c17-87f7-c06d8dd4975a	g.chr19:55815139G>A	ENST00000309383.1	+	12	1508	c.1231G>A	c.(1231-1233)Ggt>Agt	p.G411S	BRSK1_ENST00000590333.1_Missense_Mutation_p.G427S|BRSK1_ENST00000326848.7_Missense_Mutation_p.G106S	NM_032430.1	NP_115806.1	Q8TDC3	BRSK1_HUMAN	BR serine/threonine kinase 1	411					axonogenesis (GO:0007409)|cellular response to DNA damage stimulus (GO:0006974)|centrosome duplication (GO:0051298)|establishment of cell polarity (GO:0030010)|G2 DNA damage checkpoint (GO:0031572)|neuron differentiation (GO:0030182)|neurotransmitter secretion (GO:0007269)|protein phosphorylation (GO:0006468)|response to UV (GO:0009411)	cell junction (GO:0030054)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)	ATP binding (GO:0005524)|gamma-tubulin binding (GO:0043015)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)|tau-protein kinase activity (GO:0050321)	p.G411S(2)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(15)|ovary(2)|prostate(2)|skin(6)|stomach(1)	48		Renal(1328;0.245)	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0474)		TGCCGGGGGTGGTGGCTCCCC	0.662																																						uc002qkg.2																			2	Substitution - Missense(2)		lung(2)	ovary(2)|stomach(1)|lung(1)|breast(1)|skin(1)	6						c.(1231-1233)GGT>AGT		BR serine/threonine kinase 1							46.0	53.0	51.0					19																	55815139		2203	4300	6503	SO:0001583	missense	84446				establishment of cell polarity|G2/M transition DNA damage checkpoint|neuron differentiation|response to UV	cell junction|cytoplasm|nucleus	magnesium ion binding|protein serine/threonine kinase activity	g.chr19:55815139G>A	AB058714	CCDS12921.1	19q13.4	2008-02-05				ENSG00000160469			18994	protein-coding gene	gene with protein product		609235				14976552	Standard	NM_032430		Approved	KIAA1811	uc002qkg.3	Q8TDC3		ENST00000309383.1:c.1231G>A	19.37:g.55815139G>A	ENSP00000310649:p.Gly411Ser					BRSK1_uc002qkf.2_Missense_Mutation_p.G427S|BRSK1_uc002qkh.2_Missense_Mutation_p.G106S	p.G411S	NM_032430	NP_115806	Q8TDC3	BRSK1_HUMAN	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0474)	12	1508	+		Renal(1328;0.245)	411					F1DG44|Q5J5B5|Q8NDD0|Q8NDR4|Q8TDC2|Q96AV4|Q96JL4	Missense_Mutation	SNP	ENST00000309383.1	37	c.1231G>A	CCDS12921.1	.	.	.	.	.	.	.	.	.	.	.	17.62	3.435728	0.62955	.	.	ENSG00000160469	ENST00000309383;ENST00000543410;ENST00000326848	T;T	0.50548	0.74;0.74	3.86	3.86	0.44501	.	0.168061	0.39274	N	0.001401	T	0.39759	0.1090	L	0.48362	1.52	0.32189	N	0.579299	B;P	0.36110	0.402;0.537	B;B	0.37780	0.258;0.237	T	0.47947	-0.9077	10	0.21014	T	0.42	.	11.5124	0.50500	0.0:0.0:1.0:0.0	.	411;427	Q8TDC3;Q8TDC3-2	BRSK1_HUMAN;.	S	411;106;106	ENSP00000310649:G411S;ENSP00000320853:G106S	ENSP00000310649:G411S	G	+	1	0	BRSK1	60506951	0.982000	0.34865	0.997000	0.53966	0.995000	0.86356	4.093000	0.57714	2.175000	0.68902	0.561000	0.74099	GGT		PASS	0.662	BRSK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452787.1	NM_032430		62	16	62	16	---	---	---	---
ZNF274	10782	broad.mit.edu	37	19	58723696	58723696	+	Missense_Mutation	SNP	G	G	C			TCGA-66-2766-01A-01D-1522-08	TCGA-66-2766-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	452b75d0-1818-46aa-8804-9cfc0bd66449	81a4d615-e95e-4c17-87f7-c06d8dd4975a	g.chr19:58723696G>C	ENST00000326804.4	+	9	1605	c.1146G>C	c.(1144-1146)ttG>ttC	p.L382F	ZNF274_ENST00000345813.3_Missense_Mutation_p.L350F|ZNF274_ENST00000424679.2_Missense_Mutation_p.L277F|ZNF274_ENST00000597818.1_3'UTR	NM_001278734.1|NM_133502.1	NP_001265663.1|NP_598009.1	Q96GC6	ZN274_HUMAN	zinc finger protein 274	383					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)	p.L350F(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(13)|ovary(1)|prostate(1)|skin(1)	21		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Ovarian(87;0.0443)|Breast(46;0.0889)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0168)|Lung(386;0.215)		ACACAGTGTTGAAGCAGATGG	0.493																																						uc002qrq.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1147-1149)TTG>TTC		zinc finger protein 274 isoform c							75.0	75.0	75.0					19																	58723696		1993	4164	6157	SO:0001583	missense	10782				viral reproduction	centrosome|nucleolus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding	g.chr19:58723696G>C	AB029149	CCDS74473.1, CCDS74474.1, CCDS74475.1, CCDS74476.1	19q13.43	2013-01-09				ENSG00000171606		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	13068	protein-coding gene	gene with protein product		605467				10777669	Standard	NM_133502		Approved	ZKSCAN19, ZSCAN51	uc002qrs.1	Q96GC6		ENST00000326804.4:c.1146G>C	19.37:g.58723696G>C	ENSP00000321209:p.Leu382Phe					ZNF274_uc002qrr.1_Missense_Mutation_p.L351F|ZNF274_uc002qrs.1_Missense_Mutation_p.L278F|ZNF274_uc010eum.1_Missense_Mutation_p.L142F	p.L383F	NM_133502	NP_598009	Q96GC6	ZN274_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0168)|Lung(386;0.215)	10	1608	+		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Ovarian(87;0.0443)|Breast(46;0.0889)|Renal(1328;0.157)	383					Q53XU4|Q6MZG1|Q8WY37|Q8WY38|Q92969|Q9UII0|Q9UII1	Missense_Mutation	SNP	ENST00000326804.4	37	c.1149G>C		.	.	.	.	.	.	.	.	.	.	G	14.60	2.585152	0.46110	.	.	ENSG00000171606	ENST00000326804;ENST00000345813;ENST00000424679	T;T;T	0.08102	3.28;3.14;3.13	5.37	-0.978	0.10279	.	0.898542	0.09037	N	0.857790	T	0.03095	0.0091	.	.	.	0.09310	N	1	B;B;B	0.23249	0.082;0.082;0.049	B;B;B	0.20384	0.029;0.029;0.013	T	0.46693	-0.9173	9	0.11794	T	0.64	-0.0086	0.9708	0.01415	0.275:0.1577:0.4055:0.1618	.	278;351;383	Q96GC6-3;Q96GC6-2;Q96GC6	.;.;ZN274_HUMAN	F	382;350;277	ENSP00000321209:L382F;ENSP00000321187:L350F;ENSP00000409872:L277F	ENSP00000321209:L382F	L	+	3	2	ZNF274	63415508	0.539000	0.26402	0.000000	0.03702	0.024000	0.10985	1.255000	0.32909	0.052000	0.16007	0.655000	0.94253	TTG		PASS	0.493	ZNF274-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_133502		106	20	106	20	---	---	---	---
CFAP61	26074	broad.mit.edu	37	20	20278961	20278961	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2766-01A-01D-1522-08	TCGA-66-2766-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	452b75d0-1818-46aa-8804-9cfc0bd66449	81a4d615-e95e-4c17-87f7-c06d8dd4975a	g.chr20:20278961G>T	ENST00000245957.5	+	25	3429	c.3353G>T	c.(3352-3354)gGc>gTc	p.G1118V	C20orf26_ENST00000377309.2_3'UTR	NM_015585.3	NP_056400.3	Q8NHU2	CT026_HUMAN		1118								p.G1118V(1)		NS(2)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(42)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	77				READ - Rectum adenocarcinoma(2;0.171)		CGCTTGTTTGGCCAGCACGAG	0.468																																						uc002wru.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|pancreas(1)	4						c.(3352-3354)GGC>GTC		hypothetical protein LOC26074							69.0	63.0	65.0					20																	20278961		2203	4300	6503	SO:0001583	missense	26074							g.chr20:20278961G>T																												ENST00000245957.5:c.3353G>T	20.37:g.20278961G>T	ENSP00000245957:p.Gly1118Val					C20orf26_uc002wrw.2_RNA	p.G1118V	NM_015585	NP_056400	Q8NHU2	CT026_HUMAN		READ - Rectum adenocarcinoma(2;0.171)	25	3429	+			1118					A6NHA1|Q5JXV4|Q5TE18|Q8N5R9|Q96M59|Q9BQL2|Q9H127|Q9H128|Q9NQH4|Q9UFV8|Q9Y4V7	Missense_Mutation	SNP	ENST00000245957.5	37	c.3353G>T	CCDS33447.1	.	.	.	.	.	.	.	.	.	.	G	27.8	4.866679	0.91511	.	.	ENSG00000089101	ENST00000343997;ENST00000389655;ENST00000245957	T	0.54675	0.56	5.41	5.41	0.78517	.	0.000000	0.85682	D	0.000000	T	0.75049	0.3797	M	0.78049	2.395	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.77531	-0.2553	10	0.87932	D	0	.	19.5664	0.95395	0.0:0.0:1.0:0.0	.	1118	Q8NHU2	CT026_HUMAN	V	1058;1084;1118	ENSP00000245957:G1118V	ENSP00000245957:G1118V	G	+	2	0	C20orf26	20226961	1.000000	0.71417	0.996000	0.52242	0.964000	0.63967	7.621000	0.83083	2.709000	0.92574	0.655000	0.94253	GGC		PASS	0.468	C20orf26-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078228.3			38	11	38	11	---	---	---	---
KIZ-AS1	101929591	broad.mit.edu	37	20	21142511	21142511	+	RNA	SNP	G	G	C			TCGA-66-2766-01A-01D-1522-08	TCGA-66-2766-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	452b75d0-1818-46aa-8804-9cfc0bd66449	81a4d615-e95e-4c17-87f7-c06d8dd4975a	g.chr20:21142511G>C	ENST00000591761.1	-	0	5142				RP5-872K7.7_ENST00000425746.2_RNA|PLK1S1_ENST00000457464.1_RNA																							TGGTGTTGCAGGTTGCAGTGC	0.408																																						uc002wsb.2																			0					0						c.e5-1		polo-like kinase 1 substrate 1 isoform 1							59.0	53.0	55.0					20																	21142511		1895	4105	6000			55857				spindle organization	centrosome	protein kinase binding	g.chr20:21142511G>C																													20.37:g.21142511G>C						PLK1S1_uc010zsh.1_Splice_Site_p.V33_splice|PLK1S1_uc010zsi.1_Splice_Site_p.V3_splice|PLK1S1_uc010zsj.1_Splice_Site|uc002wsc.2_Intron|PLK1S1_uc002wsd.2_5'Flank	p.V136_splice	NM_018474	NP_060944	Q2M2Z5	KIZ_HUMAN			5	539	+									Splice_Site	SNP	ENST00000591761.1	37	c.406_splice																																																																																					PASS	0.408	RP4-777D9.2-002	KNOWN	basic	antisense	antisense	OTTHUMT00000078258.2			34	23	34	23	---	---	---	---
MROH8	140699	broad.mit.edu	37	20	35769624	35769624	+	Silent	SNP	G	G	T			TCGA-66-2766-01A-01D-1522-08	TCGA-66-2766-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	452b75d0-1818-46aa-8804-9cfc0bd66449	81a4d615-e95e-4c17-87f7-c06d8dd4975a	g.chr20:35769624G>T	ENST00000400441.3	-	12	1428	c.1429C>A	c.(1429-1431)Cga>Aga	p.R477R	MROH8_ENST00000441008.2_Silent_p.R463R|MROH8_ENST00000217333.8_Intron			Q9H579	MROH8_HUMAN	maestro heat-like repeat family member 8	362								p.R477R(1)									CCTGCTGATCGCTGGATGCAG	0.398																																						uc010zvu.1																			1	Substitution - coding silent(1)		lung(1)		0						c.(1459-1461)CGA>AGA		hypothetical protein LOC140699 isoform 1							105.0	91.0	95.0					20																	35769624		1851	4100	5951	SO:0001819	synonymous_variant	140699							g.chr20:35769624G>T	AL136172		20q11.22	2012-12-19	2012-12-19	2012-12-19	ENSG00000101353	ENSG00000101353		"""maestro heat-like repeat containing"""	16125	protein-coding gene	gene with protein product	"""hypothetical protein LOC140699"""		"""chromosome 20 open reading frame 131"", ""chromosome 20 open reading frame 132"""	C20orf131, C20orf132		11780052, 15635413	Standard	NM_152503		Approved	dJ621N11.4, dJ621N11.3	uc010zvu.2	Q9H579	OTTHUMG00000032407	ENST00000400441.3:c.1429C>A	20.37:g.35769624G>T						C20orf132_uc002xgk.2_Intron|C20orf132_uc002xgm.2_Silent_p.R487R|C20orf132_uc002xgn.2_Silent_p.R452R	p.R487R	NM_152503	NP_689716	Q9H579	CT132_HUMAN			14	1550	-		Myeloproliferative disorder(115;0.00878)	362					Q5JYQ6	Silent	SNP	ENST00000400441.3	37	c.1459C>A		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	0.017|0.017	-1.505263|-1.505263	0.00992|0.00992	.|.	.|.	ENSG00000101353|ENSG00000101353	ENST00000421643|ENST00000343811;ENST00000400440	.|.	.|.	.|.	6.01|6.01	-3.15|-3.15	0.05233|0.05233	.|.	.|.	.|.	.|.	.|.	T|T	0.44074|0.44074	0.1276|0.1276	.|.	.|.	.|.	0.09310|0.09310	N|N	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.46289|0.46289	-0.9202|-0.9202	4|4	.|.	.|.	.|.	-8.3708|-8.3708	15.6119|15.6119	0.76727|0.76727	0.0:0.6709:0.215:0.114|0.0:0.6709:0.215:0.114	.|.	.|.	.|.	.|.	E|R	478|503;507	.|.	.|.	A|S	-|-	2|3	0|2	C20orf132|C20orf132	35203038|35203038	0.028000|0.028000	0.19301|0.19301	0.004000|0.004000	0.12327|0.12327	0.039000|0.039000	0.13416|0.13416	0.196000|0.196000	0.17176|0.17176	-0.397000|-0.397000	0.07691|0.07691	-0.951000|-0.951000	0.02657|0.02657	GCG|AGC		PASS	0.398	MROH8-202	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_152503		12	49	12	49	---	---	---	---
SLC32A1	140679	broad.mit.edu	37	20	37357187	37357187	+	Missense_Mutation	SNP	G	G	A			TCGA-66-2766-01A-01D-1522-08	TCGA-66-2766-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	452b75d0-1818-46aa-8804-9cfc0bd66449	81a4d615-e95e-4c17-87f7-c06d8dd4975a	g.chr20:37357187G>A	ENST00000217420.1	+	2	1746	c.1483G>A	c.(1483-1485)Gcc>Acc	p.A495T		NM_080552.2	NP_542119.1	Q9H598	VIAAT_HUMAN	solute carrier family 32 (GABA vesicular transporter), member 1	495					aging (GO:0007568)|ion transport (GO:0006811)|neurotransmitter secretion (GO:0007269)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	cell tip (GO:0051286)|clathrin-sculpted gamma-aminobutyric acid transport vesicle membrane (GO:0061202)|cone cell pedicle (GO:0044316)|dendrite (GO:0030425)|dendrite terminus (GO:0044292)|inhibitory synapse (GO:0060077)|integral component of membrane (GO:0016021)|neuron projection (GO:0043005)|neuron projection terminus (GO:0044306)|plasma membrane (GO:0005886)|synaptic vesicle membrane (GO:0030672)	gamma-aminobutyric acid:proton symporter activity (GO:0015495)|glycine transmembrane transporter activity (GO:0015187)	p.A495T(1)		breast(2)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(11)|lung(16)|urinary_tract(1)	38		Myeloproliferative disorder(115;0.00878)			Glycine(DB00145)	CTTCGACGTCGCCATCTTCGT	0.647																																						uc002xjc.2																			1	Substitution - Missense(1)		lung(1)		0						c.(1483-1485)GCC>ACC		solute carrier family 32, member 1	Glycine(DB00145)						24.0	23.0	23.0					20																	37357187		2202	4300	6502	SO:0001583	missense	140679				neurotransmitter secretion	clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|integral to membrane|plasma membrane|synaptic vesicle membrane	vesicular hydrogen:amino acid antiporter activity	g.chr20:37357187G>A	AL133519	CCDS13307.1	20q11	2013-05-22			ENSG00000101438	ENSG00000101438		"""Solute carriers"""	11018	protein-coding gene	gene with protein product			"""vesicular inhibitory amino acid transporter"""	VIAAT		19843525	Standard	NM_080552		Approved	VGAT, bA122O1.1	uc002xjc.3	Q9H598	OTTHUMG00000032457	ENST00000217420.1:c.1483G>A	20.37:g.37357187G>A	ENSP00000217420:p.Ala495Thr						p.A495T	NM_080552	NP_542119	Q9H598	VIAAT_HUMAN			2	1746	+		Myeloproliferative disorder(115;0.00878)	495			Helical; (Potential).		Q8N489	Missense_Mutation	SNP	ENST00000217420.1	37	c.1483G>A	CCDS13307.1	.	.	.	.	.	.	.	.	.	.	G	11.40	1.626666	0.28978	.	.	ENSG00000101438	ENST00000217420	T	0.02197	4.4	4.95	4.95	0.65309	.	0.112837	0.64402	D	0.000012	T	0.03220	0.0094	L	0.48642	1.525	0.58432	D	0.999996	P	0.35107	0.484	B	0.37601	0.254	T	0.57728	-0.7761	10	0.29301	T	0.29	-18.9514	11.1747	0.48593	0.0:0.0:0.8161:0.1839	.	495	Q9H598	VIAAT_HUMAN	T	495	ENSP00000217420:A495T	ENSP00000217420:A495T	A	+	1	0	SLC32A1	36790601	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.508000	0.53378	2.455000	0.83008	0.655000	0.94253	GCC		PASS	0.647	SLC32A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079206.1	NM_080552		11	50	11	50	---	---	---	---
COL20A1	57642	broad.mit.edu	37	20	61957036	61957036	+	Missense_Mutation	SNP	A	A	T			TCGA-66-2766-01A-01D-1522-08	TCGA-66-2766-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	452b75d0-1818-46aa-8804-9cfc0bd66449	81a4d615-e95e-4c17-87f7-c06d8dd4975a	g.chr20:61957036A>T	ENST00000358894.6	+	29	3465	c.3365A>T	c.(3364-3366)cAg>cTg	p.Q1122L	COL20A1_ENST00000326996.6_Missense_Mutation_p.Q1154L|COL20A1_ENST00000422202.1_Missense_Mutation_p.Q1129L|COL20A1_ENST00000435874.1_Missense_Mutation_p.Q1129L	NM_020882.2	NP_065933.2	Q9P218	COKA1_HUMAN	collagen, type XX, alpha 1	1122	Collagen-like 1.				extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)		p.Q1122L(1)		NS(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(21)|ovary(1)|prostate(3)|urinary_tract(2)	36	all_cancers(38;1.39e-10)					CCCGGCCACCAGGGCATCCCC	0.706																																						uc011aau.1																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1						c.(3364-3366)CAG>CTG		collagen, type XX, alpha 1							15.0	20.0	18.0					20																	61957036		1827	4064	5891	SO:0001583	missense	57642				cell adhesion	collagen|extracellular space	structural molecule activity	g.chr20:61957036A>T	BC043183	CCDS46628.1	20q13.33	2014-02-12			ENSG00000101203	ENSG00000101203		"""Collagens"", ""Fibronectin type III domain containing"""	14670	protein-coding gene	gene with protein product						10819331	Standard	NM_020882		Approved	KIAA1510	uc011aau.2	Q9P218	OTTHUMG00000032964	ENST00000358894.6:c.3365A>T	20.37:g.61957036A>T	ENSP00000351767:p.Gln1122Leu					COL20A1_uc011aav.1_Missense_Mutation_p.Q943L	p.Q1122L	NM_020882	NP_065933	Q9P218	COKA1_HUMAN			29	3465	+	all_cancers(38;1.39e-10)		1122			Collagen-like 1.		Q4VXQ4|Q6PI59|Q8WUT2|Q96CY9|Q9BQU6|Q9BQU7	Missense_Mutation	SNP	ENST00000358894.6	37	c.3365A>T	CCDS46628.1	.	.	.	.	.	.	.	.	.	.	A	10.89	1.479378	0.26511	.	.	ENSG00000101203	ENST00000358894;ENST00000326996;ENST00000435874;ENST00000422202;ENST00000415763;ENST00000455906	D;D;D;D;D;D	0.93426	-3.22;-3.22;-3.22;-3.22;-1.78;-1.78	3.72	1.19	0.21007	.	0.158228	0.42821	U	0.000648	D	0.85932	0.5812	L	0.39020	1.185	0.35293	D	0.782372	P;P	0.43231	0.763;0.801	B;B	0.40741	0.229;0.339	T	0.81317	-0.0987	10	0.27785	T	0.31	.	3.2905	0.06947	0.6228:0.2423:0.1349:0.0	.	1129;1122	Q9P218-2;Q9P218	.;COKA1_HUMAN	L	1122;1154;1129;1129;257;112	ENSP00000351767:Q1122L;ENSP00000323077:Q1154L;ENSP00000408690:Q1129L;ENSP00000414753:Q1129L;ENSP00000410799:Q257L;ENSP00000406345:Q112L	ENSP00000323077:Q1154L	Q	+	2	0	COL20A1	61427481	0.087000	0.21565	0.659000	0.29680	0.444000	0.32077	0.913000	0.28611	0.345000	0.23873	0.482000	0.46254	CAG		PASS	0.706	COL20A1-006	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000144595.2	NM_020882		7	13	7	13	---	---	---	---
SRMS	6725	broad.mit.edu	37	20	62173649	62173649	+	Silent	SNP	G	G	T			TCGA-66-2766-01A-01D-1522-08	TCGA-66-2766-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	452b75d0-1818-46aa-8804-9cfc0bd66449	81a4d615-e95e-4c17-87f7-c06d8dd4975a	g.chr20:62173649G>T	ENST00000217188.1	-	5	853	c.813C>A	c.(811-813)gcC>gcA	p.A271A		NM_080823.2	NP_543013.1	Q9H3Y6	SRMS_HUMAN	src-related kinase lacking C-terminal regulatory tyrosine and N-terminal myristylation sites	271	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				peptidyl-tyrosine autophosphorylation (GO:0038083)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)	p.A271A(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(9)|prostate(2)|stomach(1)	19	all_cancers(38;2.51e-11)|all_epithelial(29;8.27e-13)		Epithelial(9;9.69e-09)|all cancers(9;5.84e-08)|BRCA - Breast invasive adenocarcinoma(10;3.63e-06)			GGATCTCCTTGGCGAGGTCAG	0.642																																						uc002yfi.1																			1	Substitution - coding silent(1)		lung(1)	stomach(1)|lung(1)	2						c.(811-813)GCC>GCA		src-related kinase lacking C-terminal regulatory							78.0	74.0	76.0					20																	62173649		2200	4297	6497	SO:0001819	synonymous_variant	6725						ATP binding|non-membrane spanning protein tyrosine kinase activity	g.chr20:62173649G>T		CCDS13525.1	20q13.33	2013-02-14	2003-08-22		ENSG00000125508	ENSG00000125508		"""SH2 domain containing"""	11298	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 148"""	C20orf148		7935409	Standard	NM_080823		Approved	SRM, dJ697K14.1	uc002yfi.1	Q9H3Y6	OTTHUMG00000032977	ENST00000217188.1:c.813C>A	20.37:g.62173649G>T							p.A271A	NM_080823	NP_543013	Q9H3Y6	SRMS_HUMAN	Epithelial(9;9.69e-09)|all cancers(9;5.84e-08)|BRCA - Breast invasive adenocarcinoma(10;3.63e-06)		5	854	-	all_cancers(38;2.51e-11)|all_epithelial(29;8.27e-13)		271			Protein kinase.			Silent	SNP	ENST00000217188.1	37	c.813C>A	CCDS13525.1																																																																																				PASS	0.642	SRMS-001	KNOWN	mRNA_end_NF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080148.1	NM_080823		15	20	15	20	---	---	---	---
TPTE	7179	broad.mit.edu	37	21	10906938	10906938	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2766-01A-01D-1522-08	TCGA-66-2766-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	452b75d0-1818-46aa-8804-9cfc0bd66449	81a4d615-e95e-4c17-87f7-c06d8dd4975a	g.chr21:10906938C>T	ENST00000361285.4	-	24	1952	c.1623G>A	c.(1621-1623)atG>atA	p.M541I	TPTE_ENST00000415664.2_5'UTR|TPTE_ENST00000342420.5_Missense_Mutation_p.M503I|TPTE_ENST00000298232.7_Missense_Mutation_p.M523I	NM_199261.2	NP_954870	P56180	TPTE_HUMAN	transmembrane phosphatase with tensin homology	541					peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)	ion channel activity (GO:0005216)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.M523I(2)|p.M541I(2)		NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130			Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		CACTGGAAGTCATTTTCTCGC	0.383																																						uc002yip.1																			4	Substitution - Missense(4)		lung(4)	ovary(2)|lung(1)|breast(1)|skin(1)	5						c.(1621-1623)ATG>ATA		transmembrane phosphatase with tensin homology							145.0	128.0	133.0					21																	10906938		2203	4300	6503	SO:0001583	missense	7179				signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr21:10906938C>T	AF007118	CCDS74771.1, CCDS74772.1, CCDS74773.1	21p11	2011-06-09			ENSG00000166157	ENSG00000274391		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"""	12023	protein-coding gene	gene with protein product	"""PTEN-related tyrosine phosphatase"", ""cancer/testis antigen 44"""	604336				10830953, 14659893	Standard	NM_001290224		Approved	PTEN2, CT44	uc002yip.1	P56180	OTTHUMG00000074127	ENST00000361285.4:c.1623G>A	21.37:g.10906938C>T	ENSP00000355208:p.Met541Ile					TPTE_uc002yis.1_RNA|TPTE_uc002yiq.1_Missense_Mutation_p.M523I|TPTE_uc002yir.1_Missense_Mutation_p.M503I|TPTE_uc010gkv.1_Missense_Mutation_p.M403I	p.M541I	NM_199261	NP_954870	P56180	TPTE_HUMAN	Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)	24	1991	-			541					B2RAP7|C9J6D6|C9JKK8|Q6XPS4|Q6XPS5|Q71JA8|Q8NCS8	Missense_Mutation	SNP	ENST00000361285.4	37	c.1623G>A	CCDS13560.2	.	.	.	.	.	.	.	.	.	.	.	0.224	-1.026062	0.02045	.	.	ENSG00000166157	ENST00000298232;ENST00000361285;ENST00000342420	D;D;D	0.94184	-3.23;-3.37;-3.35	1.6	-2.06	0.07298	C2 calcium/lipid-binding domain, CaLB (1);	.	.	.	.	T	0.80374	0.4611	N	0.03608	-0.345	0.09310	N	1	B;B;B	0.06786	0.0;0.0;0.001	B;B;B	0.04013	0.0;0.0;0.001	T	0.67118	-0.5751	9	0.37606	T	0.19	.	5.5202	0.16927	0.0:0.5385:0.0:0.4615	.	503;523;541	P56180-3;P56180-2;P56180	.;.;TPTE_HUMAN	I	523;541;503	ENSP00000298232:M523I;ENSP00000355208:M541I;ENSP00000344441:M503I	ENSP00000298232:M523I	M	-	3	0	TPTE	9928809	0.002000	0.14202	0.000000	0.03702	0.021000	0.10359	0.541000	0.23207	-0.658000	0.05366	0.184000	0.17185	ATG		PASS	0.383	TPTE-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000157413.1			28	38	28	38	---	---	---	---
PCNT	5116	broad.mit.edu	37	21	47855969	47855969	+	Silent	SNP	C	C	G			TCGA-66-2766-01A-01D-1522-08	TCGA-66-2766-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	452b75d0-1818-46aa-8804-9cfc0bd66449	81a4d615-e95e-4c17-87f7-c06d8dd4975a	g.chr21:47855969C>G	ENST00000359568.5	+	39	9011	c.8904C>G	c.(8902-8904)ctC>ctG	p.L2968L	PCNT_ENST00000480896.1_3'UTR	NM_006031.5	NP_006022.3	O95613	PCNT_HUMAN	pericentrin	2968					brain morphogenesis (GO:0048854)|cerebellar cortex morphogenesis (GO:0021696)|cilium assembly (GO:0042384)|G2/M transition of mitotic cell cycle (GO:0000086)|in utero embryonic development (GO:0001701)|limb morphogenesis (GO:0035108)|microtubule cytoskeleton organization (GO:0000226)|mitotic cell cycle (GO:0000278)|multicellular organism growth (GO:0035264)|negative regulation of apoptotic process (GO:0043066)|neural precursor cell proliferation (GO:0061351)|neuron migration (GO:0001764)|olfactory bulb development (GO:0021772)|positive regulation of intracellular protein transport (GO:0090316)|spindle organization (GO:0007051)	centriolar satellite (GO:0034451)|centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intercellular bridge (GO:0045171)|membrane (GO:0016020)|microtubule (GO:0005874)|motile cilium (GO:0031514)|pericentriolar material (GO:0000242)		p.L2968L(1)		NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(15)|liver(2)|lung(41)|ovary(5)|pancreas(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	104	Breast(49;0.112)					CGGACCACCTCCGGGAACAGC	0.677																																						uc002zji.3																			1	Substitution - coding silent(1)		lung(1)	ovary(4)|breast(2)|pancreas(2)	8						c.(8902-8904)CTC>CTG		pericentrin							44.0	48.0	47.0					21																	47855969		2203	4299	6502	SO:0001819	synonymous_variant	5116				cilium assembly|G2/M transition of mitotic cell cycle	cytosol|microtubule	calmodulin binding	g.chr21:47855969C>G	AB007862	CCDS33592.1	21q22.3	2014-02-20	2008-01-30	2005-11-03	ENSG00000160299	ENSG00000160299			16068	protein-coding gene	gene with protein product	"""kendrin"", ""Seckel syndrome 4"""	605925	"""pericentrin 2 (kendrin)"""	PCNT2		8812505, 9455477	Standard	NM_006031		Approved	KEN, KIAA0402, PCN, PCNTB, SCKL4	uc002zji.4	O95613	OTTHUMG00000090665	ENST00000359568.5:c.8904C>G	21.37:g.47855969C>G						PCNT_uc002zjj.2_Silent_p.L2771L	p.L2968L	NM_006031	NP_006022	O95613	PCNT_HUMAN			39	9011	+	Breast(49;0.112)		2968			Potential.		O43152|Q7Z7C9	Silent	SNP	ENST00000359568.5	37	c.8904C>G	CCDS33592.1																																																																																				PASS	0.677	PCNT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207336.1	NM_006031		28	56	28	56	---	---	---	---
IL17RA	23765	broad.mit.edu	37	22	17586799	17586799	+	Missense_Mutation	SNP	G	G	A			TCGA-66-2766-01A-01D-1522-08	TCGA-66-2766-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	452b75d0-1818-46aa-8804-9cfc0bd66449	81a4d615-e95e-4c17-87f7-c06d8dd4975a	g.chr22:17586799G>A	ENST00000319363.6	+	11	1133	c.1000G>A	c.(1000-1002)Ggc>Agc	p.G334S		NM_014339.5	NP_055154.3	Q96F46	I17RA_HUMAN	interleukin 17 receptor A	334					cell surface receptor signaling pathway (GO:0007166)|cytokine-mediated signaling pathway (GO:0019221)|fibroblast activation (GO:0072537)|positive regulation of cytokine production involved in inflammatory response (GO:1900017)|positive regulation of interleukin-23 production (GO:0032747)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	interleukin-17 receptor activity (GO:0030368)	p.G334S(1)		endometrium(2)|large_intestine(8)|lung(16)|ovary(1)|skin(2)|stomach(1)	30		all_epithelial(15;0.0181)|Lung NSC(13;0.109)|all_lung(157;0.132)		Colorectal(9;0.241)		CCTGCTGGTGGGCTCCGTCAT	0.617																																						uc002zly.2																			1	Substitution - Missense(1)		lung(1)	skin(2)	2						c.(1000-1002)GGC>AGC		interleukin 17A receptor precursor							101.0	77.0	85.0					22																	17586799		2203	4300	6503	SO:0001583	missense	23765				fibroblast activation|positive regulation of interleukin-23 production	integral to plasma membrane	interleukin-17 receptor activity	g.chr22:17586799G>A	U58917	CCDS13739.1	22q11.1	2014-09-17	2006-04-26	2006-04-26	ENSG00000177663	ENSG00000177663		"""Interleukins and interleukin receptors"", ""CD molecules"""	5985	protein-coding gene	gene with protein product		605461	"""interleukin 17 receptor"""	IL17R		9367539, 10591208	Standard	NM_014339		Approved	hIL-17R, IL-17RA, CDw217, CD217	uc002zly.4	Q96F46	OTTHUMG00000150026	ENST00000319363.6:c.1000G>A	22.37:g.17586799G>A	ENSP00000320936:p.Gly334Ser					IL17RA_uc010gqt.2_Intron	p.G334S	NM_014339	NP_055154	Q96F46	I17RA_HUMAN		Colorectal(9;0.241)	11	1133	+		all_epithelial(15;0.0181)|Lung NSC(13;0.109)|all_lung(157;0.132)	334			Helical; (Potential).		O43844|Q20WK1	Missense_Mutation	SNP	ENST00000319363.6	37	c.1000G>A	CCDS13739.1	.	.	.	.	.	.	.	.	.	.	G	13.30	2.194815	0.38806	.	.	ENSG00000177663	ENST00000319363	T	0.07216	3.21	5.21	4.18	0.49190	.	0.290154	0.29806	N	0.011141	T	0.10337	0.0253	M	0.62723	1.935	0.32120	N	0.5882	B	0.32653	0.379	B	0.30943	0.122	T	0.04976	-1.0914	10	0.33141	T	0.24	-19.9849	11.5324	0.50618	0.084:0.0:0.916:0.0	.	334	Q96F46	I17RA_HUMAN	S	334	ENSP00000320936:G334S	ENSP00000320936:G334S	G	+	1	0	IL17RA	15966799	1.000000	0.71417	0.973000	0.42090	0.209000	0.24338	4.199000	0.58426	1.181000	0.42912	0.561000	0.74099	GGC		PASS	0.617	IL17RA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315820.1	NM_014339		38	36	38	36	---	---	---	---
PI4KA	5297	broad.mit.edu	37	22	21073008	21073008	+	Missense_Mutation	SNP	T	T	C			TCGA-66-2766-01A-01D-1522-08	TCGA-66-2766-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	452b75d0-1818-46aa-8804-9cfc0bd66449	81a4d615-e95e-4c17-87f7-c06d8dd4975a	g.chr22:21073008T>C	ENST00000572273.1	-	44	5275	c.5045A>G	c.(5044-5046)aAg>aGg	p.K1682R	PI4KA_ENST00000255882.6_Missense_Mutation_p.K1740R|PI4KA_ENST00000414196.3_Missense_Mutation_p.K492R			P42356	PI4KA_HUMAN	phosphatidylinositol 4-kinase, catalytic, alpha	1682	Pleckstrin homology (PH) domain conferring phosphoinositide binding specificity. {ECO:0000250}.				phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi-associated vesicle membrane (GO:0030660)|membrane (GO:0016020)|plasma membrane (GO:0005886)	1-phosphatidylinositol 4-kinase activity (GO:0004430)|ATP binding (GO:0005524)	p.K1682R(2)		breast(3)|endometrium(8)|kidney(9)|large_intestine(19)|lung(29)|ovary(1)|pancreas(1)|prostate(3)|salivary_gland(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	79	all_cancers(11;7.59e-25)|all_epithelial(7;1.34e-22)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000536)|Lung(15;0.0108)|Epithelial(17;0.196)			GTTGGTGATCTTGTTAAAGAA	0.517																																					GBM(136;1332 1831 3115 23601 50806)	uc002zsz.3																			2	Substitution - Missense(2)		lung(2)	lung(2)|upper_aerodigestive_tract(1)|salivary_gland(1)	4						c.(5044-5046)AAG>AGG		phosphatidylinositol 4-kinase type 3 alpha							112.0	111.0	111.0					22																	21073008		2203	4300	6503	SO:0001583	missense	5297				phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling|synaptic transmission	Golgi-associated vesicle	1-phosphatidylinositol 4-kinase activity|ATP binding|protein binding	g.chr22:21073008T>C	L36151	CCDS33603.1, CCDS33603.2	22q11.21	2011-05-25	2007-08-14	2007-08-02	ENSG00000241973	ENSG00000241973			8983	protein-coding gene	gene with protein product		600286		PIK4CA		7961848, 8662589	Standard	NM_002650		Approved	PI4K-ALPHA, pi4K230	uc002zsz.5	P42356	OTTHUMG00000167440	ENST00000572273.1:c.5045A>G	22.37:g.21073008T>C	ENSP00000458238:p.Lys1682Arg					PI4KA_uc010gsp.2_Missense_Mutation_p.K75R|PI4KA_uc002zsy.3_Missense_Mutation_p.K492R	p.K1682R	NM_058004	NP_477352	P42356	PI4KA_HUMAN	LUSC - Lung squamous cell carcinoma(15;0.000536)|Lung(15;0.0108)|Epithelial(17;0.196)		44	5276	-	all_cancers(11;7.59e-25)|all_epithelial(7;1.34e-22)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	1682			Pleckstrin homology (PH) domain conferring phosphoinositide binding specificity (By similarity).		Q7Z625|Q9UPG2	Missense_Mutation	SNP	ENST00000572273.1	37	c.5045A>G		.	.	.	.	.	.	.	.	.	.	T	16.56	3.157424	0.57259	.	.	ENSG00000241973	ENST00000255882;ENST00000414196;ENST00000399213	T;T	0.80480	-1.38;-1.38	4.9	4.9	0.64082	Protein kinase-like domain (1);	0.047154	0.85682	D	0.000000	T	0.78278	0.4258	M	0.62266	1.93	0.80722	D	1	B;B	0.29188	0.002;0.236	B;B	0.27608	0.007;0.081	T	0.78132	-0.2323	10	0.54805	T	0.06	-25.1279	14.5176	0.67830	0.0:0.0:0.0:1.0	.	75;1682	A8MTF1;P42356	.;PI4KA_HUMAN	R	1682;492;75	ENSP00000402981:K492R;ENSP00000382162:K75R	ENSP00000255882:K1682R	K	-	2	0	PI4KA	19403008	1.000000	0.71417	1.000000	0.80357	0.876000	0.50452	8.000000	0.88501	1.831000	0.53308	0.528000	0.53228	AAG		PASS	0.517	PI4KA-202	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_058004		10	697	10	697	---	---	---	---
PRAME	23532	broad.mit.edu	37	22	22892332	22892332	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2766-01A-01D-1522-08	TCGA-66-2766-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	452b75d0-1818-46aa-8804-9cfc0bd66449	81a4d615-e95e-4c17-87f7-c06d8dd4975a	g.chr22:22892332C>T	ENST00000398741.1	-	5	1075	c.769G>A	c.(769-771)Ggc>Agc	p.G257S	PRAME_ENST00000405655.3_Missense_Mutation_p.G257S|PRAME_ENST00000543184.1_Missense_Mutation_p.G257S|PRAME_ENST00000424204.2_Missense_Mutation_p.G241S|PRAME_ENST00000402697.1_Missense_Mutation_p.G257S|PRAME_ENST00000398743.2_Missense_Mutation_p.G257S|PRAME_ENST00000485532.1_5'Flank|PRAME_ENST00000539862.1_Missense_Mutation_p.G241S	NM_206955.1	NP_996838.1	P78395	PRAME_HUMAN	preferentially expressed antigen in melanoma	257					apoptotic process (GO:0006915)|cell differentiation (GO:0030154)|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)|regulation of growth (GO:0040008)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|plasma membrane (GO:0005886)	retinoic acid receptor binding (GO:0042974)	p.G257S(1)		autonomic_ganglia(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	36	all_hematologic(9;0.0135)|Acute lymphoblastic leukemia(84;0.17)	all_hematologic(6;1.74e-30)|Acute lymphoblastic leukemia(6;7.75e-22)|all_lung(157;4.03e-05)		READ - Rectum adenocarcinoma(21;0.0649)		ATCATCTGGCCCAGGTAAGGA	0.483																																					Melanoma(73;1707 1838 15168 27201)	uc002zwf.2																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(2)	2						c.(769-771)GGC>AGC		preferentially expressed antigen in melanoma							93.0	88.0	89.0					22																	22892332		2203	4300	6503	SO:0001583	missense	23532				apoptosis|cell differentiation|negative regulation of apoptosis|negative regulation of cell differentiation|negative regulation of retinoic acid receptor signaling pathway|negative regulation of transcription, DNA-dependent|positive regulation of cell proliferation|regulation of growth|transcription, DNA-dependent	nucleus|plasma membrane	retinoic acid receptor binding	g.chr22:22892332C>T	U65011	CCDS13801.1	22q11.22	2013-01-17			ENSG00000185686	ENSG00000185686		"""-"""	9336	protein-coding gene	gene with protein product	"""cancer/testis antigen 130"""	606021		MAPE		9047241, 10591208	Standard	XM_006725402		Approved	CT130	uc002zwj.3	P78395	OTTHUMG00000151172	ENST00000398741.1:c.769G>A	22.37:g.22892332C>T	ENSP00000381726:p.Gly257Ser					LOC96610_uc011aim.1_Intron|PRAME_uc011air.1_Missense_Mutation_p.G241S|PRAME_uc010gtr.2_Missense_Mutation_p.G257S|PRAME_uc002zwg.2_Missense_Mutation_p.G257S|PRAME_uc002zwh.2_Missense_Mutation_p.G257S|PRAME_uc002zwi.2_Missense_Mutation_p.G257S|PRAME_uc002zwj.2_Missense_Mutation_p.G257S|PRAME_uc002zwk.2_Missense_Mutation_p.G257S	p.G257S	NM_206956	NP_996839	P78395	PRAME_HUMAN		READ - Rectum adenocarcinoma(21;0.0649)	4	925	-	all_hematologic(9;0.0135)|Acute lymphoblastic leukemia(84;0.17)	all_hematologic(6;1.74e-30)|Acute lymphoblastic leukemia(6;7.75e-22)|all_lung(157;4.03e-05)	257					B2R6Y7|O43481|Q8IXN8	Missense_Mutation	SNP	ENST00000398741.1	37	c.769G>A	CCDS13801.1	.	.	.	.	.	.	.	.	.	.	C	10.23	1.291918	0.23564	.	.	ENSG00000185686	ENST00000398743;ENST00000543184;ENST00000398741;ENST00000405655;ENST00000539862;ENST00000402697;ENST00000424204	T;T;T;T;T;T;T	0.12672	2.66;2.66;2.66;2.66;2.66;2.66;2.66	3.78	2.77	0.32553	.	0.447701	0.21941	N	0.066866	T	0.14013	0.0339	L	0.52126	1.63	0.26149	N	0.980179	P	0.45176	0.852	B	0.43950	0.437	T	0.07177	-1.0786	10	0.38643	T	0.18	.	7.5728	0.27918	0.0:0.8826:0.0:0.1174	.	257	P78395	PRAME_HUMAN	S	257;257;257;257;241;257;241	ENSP00000381728:G257S;ENSP00000445675:G257S;ENSP00000381726:G257S;ENSP00000384343:G257S;ENSP00000445097:G241S;ENSP00000385198:G257S;ENSP00000407342:G241S	ENSP00000381726:G257S	G	-	1	0	PRAME	21222332	0.929000	0.31497	0.997000	0.53966	0.018000	0.09664	1.166000	0.31834	1.175000	0.42826	-0.137000	0.14449	GGC		PASS	0.483	PRAME-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000321644.1	NM_206953		35	117	35	117	---	---	---	---
IGLL1	3543	broad.mit.edu	37	22	23922244	23922244	+	Missense_Mutation	SNP	G	G	A			TCGA-66-2766-01A-01D-1522-08	TCGA-66-2766-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	452b75d0-1818-46aa-8804-9cfc0bd66449	81a4d615-e95e-4c17-87f7-c06d8dd4975a	g.chr22:23922244G>A	ENST00000330377.2	-	1	251	c.134C>T	c.(133-135)tCg>tTg	p.S45L	IGLL1_ENST00000249053.3_Missense_Mutation_p.S45L|KB-208E9.1_ENST00000608615.1_lincRNA	NM_020070.3	NP_064455.1	P15814	IGLL1_HUMAN	immunoglobulin lambda-like polypeptide 1	45					immune response (GO:0006955)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)		p.S45L(2)		kidney(1)|large_intestine(1)|lung(5)|skin(4)|stomach(1)	12						CCTGCTCTGCGATGCAGCTGT	0.697																																						uc002zxd.2																			2	Substitution - Missense(2)		lung(1)|skin(1)		0						c.(133-135)TCG>TTG		immunoglobulin lambda-like polypeptide 1 isoform							6.0	8.0	7.0					22																	23922244		2177	4251	6428	SO:0001583	missense	3543				immune response	extracellular region|membrane		g.chr22:23922244G>A	X52204	CCDS13809.1, CCDS13810.1	22q11.23	2014-09-17			ENSG00000128322	ENSG00000128322		"""CD molecules"", ""Immunoglobulin superfamily / C1-set domain containing"""	5870	protein-coding gene	gene with protein product		146770		IGLL		3139558, 2511029	Standard	NM_020070		Approved	IGVPB, IGL5, 14.1, CD179B	uc002zxd.3	P15814	OTTHUMG00000150673	ENST00000330377.2:c.134C>T	22.37:g.23922244G>A	ENSP00000329312:p.Ser45Leu					IGLL1_uc002zxe.2_Missense_Mutation_p.S45L	p.S45L	NM_020070	NP_064455	P15814	IGLL1_HUMAN			1	252	-			45					Q0P681	Missense_Mutation	SNP	ENST00000330377.2	37	c.134C>T	CCDS13809.1	.	.	.	.	.	.	.	.	.	.	g	7.916	0.737444	0.15574	.	.	ENSG00000128322	ENST00000249053;ENST00000330377;ENST00000438703	T;T	0.00958	6.81;5.5	1.78	0.724	0.18236	.	.	.	.	.	T	0.00608	0.0020	N	0.08118	0	0.09310	N	1	B;B	0.09022	0.0;0.002	B;B	0.04013	0.0;0.001	T	0.47573	-0.9107	9	0.46703	T	0.11	.	3.2516	0.06816	0.1801:0.2768:0.5432:0.0	.	45;45	Q0P681;P15814	.;IGLL1_HUMAN	L	45	ENSP00000329312:S45L;ENSP00000403391:S45L	ENSP00000249053:S45L	S	-	2	0	IGLL1	22252244	0.002000	0.14202	0.006000	0.13384	0.002000	0.02628	0.167000	0.16602	0.315000	0.23110	-0.707000	0.03653	TCG		PASS	0.697	IGLL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319569.1	NM_020070		7	1	7	1	---	---	---	---
RGL4	266747	broad.mit.edu	37	22	24034261	24034261	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2766-01A-01D-1522-08	TCGA-66-2766-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	452b75d0-1818-46aa-8804-9cfc0bd66449	81a4d615-e95e-4c17-87f7-c06d8dd4975a	g.chr22:24034261G>T	ENST00000290691.5	+	1	1214	c.44G>T	c.(43-45)aGt>aTt	p.S15I	GUSBP11_ENST00000455485.1_RNA|AP000347.2_ENST00000417194.1_RNA|RGL4_ENST00000401461.1_Intron|KB-1572G7.2_ENST00000421064.1_RNA	NM_153615.1	NP_705843.1	Q8IZJ4	RGDSR_HUMAN	ral guanine nucleotide dissociation stimulator-like 4	15					small GTPase mediated signal transduction (GO:0007264)	cytoplasmic vesicle (GO:0031410)	guanyl-nucleotide exchange factor activity (GO:0005085)	p.S15I(1)		endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(3)	15						GCAGTCTTGAGTGCCCAGGTG	0.597																																						uc002zxn.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(43-45)AGT>ATT		ral guanine nucleotide dissociation							76.0	73.0	74.0					22																	24034261		2203	4300	6503	SO:0001583	missense	266747				small GTPase mediated signal transduction	cytoplasmic membrane-bounded vesicle	guanyl-nucleotide exchange factor activity	g.chr22:24034261G>T		CCDS13811.1	22q11.23	2008-02-22			ENSG00000159496	ENSG00000159496			31911	protein-coding gene	gene with protein product	"""RalGDS related oncogene"""	612214				9178890, 10851075	Standard	NM_153615		Approved	Rgr	uc002zxn.3	Q8IZJ4	OTTHUMG00000150711	ENST00000290691.5:c.44G>T	22.37:g.24034261G>T	ENSP00000290691:p.Ser15Ile					LOC91316_uc002zxh.3_RNA|LOC91316_uc002zxi.3_RNA|LOC91316_uc002zxk.3_Intron|LOC91316_uc010gua.2_Intron|LOC91316_uc002zxl.3_Intron|LOC91316_uc011aiz.1_Intron|LOC91316_uc002zxm.3_Intron|RGL4_uc002zxo.2_Missense_Mutation_p.S15I|RGL4_uc002zxp.1_5'UTR|RGL4_uc002zxq.2_5'UTR	p.S15I	NM_153615	NP_705843	Q8IZJ4	RGDSR_HUMAN			1	1214	+			15					Q495L8	Missense_Mutation	SNP	ENST00000290691.5	37	c.44G>T	CCDS13811.1	.	.	.	.	.	.	.	.	.	.	g	12.33	1.905641	0.33628	.	.	ENSG00000159496	ENST00000290691;ENST00000382833;ENST00000423392	T;T	0.36340	1.26;1.26	1.47	0.31	0.15825	.	0.841152	0.09389	U	0.808793	T	0.33876	0.0878	N	0.24115	0.695	0.09310	N	1	D;D	0.55605	0.972;0.972	P;P	0.55011	0.766;0.766	T	0.21415	-1.0246	10	0.59425	D	0.04	.	5.6443	0.17580	0.0:0.3934:0.6066:0.0	.	15;15	E9PH87;Q8IZJ4	.;RGDSR_HUMAN	I	15	ENSP00000290691:S15I;ENSP00000402142:S15I	ENSP00000290691:S15I	S	+	2	0	RGL4	22364261	0.012000	0.17670	0.004000	0.12327	0.020000	0.10135	-0.343000	0.07791	0.142000	0.18901	0.543000	0.68304	AGT		PASS	0.597	RGL4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000319711.1	NM_153615		40	120	40	120	---	---	---	---
SMARCB1	6598	broad.mit.edu	37	22	24143214	24143214	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2766-01A-01D-1522-08	TCGA-66-2766-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	452b75d0-1818-46aa-8804-9cfc0bd66449	81a4d615-e95e-4c17-87f7-c06d8dd4975a	g.chr22:24143214C>A	ENST00000263121.7	+	4	642	c.446C>A	c.(445-447)aCa>aAa	p.T149K	SMARCB1_ENST00000344921.6_Missense_Mutation_p.T140K|SMARCB1_ENST00000407082.3_Intron|SMARCB1_ENST00000407422.3_Missense_Mutation_p.T140K	NM_003073.3	NP_003064.2	Q12824	SNF5_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1	149	DNA-binding. {ECO:0000255}.				ATP-dependent chromatin remodeling (GO:0043044)|blastocyst hatching (GO:0001835)|cell differentiation (GO:0030154)|chromatin remodeling (GO:0006338)|DNA integration (GO:0015074)|DNA repair (GO:0006281)|mitotic cell cycle phase transition (GO:0044772)|negative regulation of cell proliferation (GO:0008285)|nervous system development (GO:0007399)|nucleosome disassembly (GO:0006337)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|single stranded viral RNA replication via double stranded DNA intermediate (GO:0039692)|transcription, DNA-templated (GO:0006351)	nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)|SWI/SNF complex (GO:0016514)|XY body (GO:0001741)	p53 binding (GO:0002039)|Tat protein binding (GO:0030957)|transcription coactivator activity (GO:0003713)	p.?(5)|p.T140K(1)|p.T149K(1)		bone(4)|central_nervous_system(198)|endometrium(4)|haematopoietic_and_lymphoid_tissue(25)|kidney(3)|large_intestine(5)|liver(2)|lung(5)|meninges(5)|ovary(4)|pancreas(1)|prostate(2)|skin(6)|soft_tissue(194)	458		Medulloblastoma(6;2.2e-09)|all_neural(6;2.73e-05)				CCATGCTCCACAACCATCAAC	0.567			"""D, N, F, S"""		malignant rhabdoid	malignant rhabdoid																																uc002zyb.2			yes	Rec	yes	Rhabdoid predisposition syndrome	22	22q11	6598	D|N|F|S	"""SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1"""			M		malignant rhabdoid	malignant rhabdoid 		7	Deletion - Frameshift(3)|Substitution - Missense(2)|Unknown(2)	p.?(5)	soft_tissue(5)|lung(2)	soft_tissue(193)|central_nervous_system(172)|haematopoietic_and_lymphoid_tissue(23)|meninges(5)|skin(5)|bone(4)|ovary(2)|endometrium(1)|lung(1)|pancreas(1)	407						c.(445-447)ACA>AAA		SWI/SNF related, matrix associated, actin							213.0	143.0	167.0					22																	24143214		2203	4300	6503	SO:0001583	missense	6598	Rhabdoid_Predisposition_syndrome|Schwannomatosis			cell cycle|chromatin remodeling|DNA integration|interspecies interaction between organisms|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|retroviral genome replication|transcription, DNA-dependent	nBAF complex|npBAF complex|nucleolus|nucleoplasm|SWI/SNF complex	p53 binding	g.chr22:24143214C>A	U04847	CCDS13817.1, CCDS46671.1	22q11.23	2014-09-17			ENSG00000099956	ENSG00000099956			11103	protein-coding gene	gene with protein product	"""sucrose nonfermenting, yeast, homolog-like 1"", ""integrase interactor 1"", ""malignant rhabdoid tumor suppressor"", ""protein phosphatase 1, regulatory subunit 144"""	601607		SNF5L1		7801128, 10319872, 10365963	Standard	NM_003073		Approved	BAF47, Ini1, Snr1, hSNFS, Sfh1p, RDT, PPP1R144	uc002zyb.3	Q12824	OTTHUMG00000150737	ENST00000263121.7:c.446C>A	22.37:g.24143214C>A	ENSP00000263121:p.Thr149Lys					SMARCB1_uc002zyg.2_Missense_Mutation_p.T149K|SMARCB1_uc011ajb.1_Missense_Mutation_p.T140K|SMARCB1_uc002zya.2_Missense_Mutation_p.T149K|SMARCB1_uc002zyc.2_Missense_Mutation_p.T140K|SMARCB1_uc002zyd.2_Missense_Mutation_p.T140K|SMARCB1_uc002zye.1_Intron|SMARCB1_uc002zyf.1_Intron|SMARCB1_uc010gue.1_Intron	p.T149K	NM_003073	NP_003064	Q12824	SNF5_HUMAN			4	653	+		Medulloblastoma(6;2.2e-09)|all_neural(6;2.73e-05)	149			DNA-binding (Potential).		O75784|O95474|Q17S11|Q38GA1|Q76N08|Q9UBH2	Missense_Mutation	SNP	ENST00000263121.7	37	c.446C>A	CCDS13817.1	.	.	.	.	.	.	.	.	.	.	C	29.1	4.975913	0.92982	.	.	ENSG00000099956	ENST00000417137;ENST00000344921;ENST00000263121;ENST00000407422	D;D;D;D	0.95377	-3.53;-3.69;-3.44;-3.46	5.02	5.02	0.67125	.	0.000000	0.85682	D	0.000000	D	0.97414	0.9154	M	0.76002	2.32	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;0.993	D;D;D;D;D;D	0.91635	0.997;0.999;0.996;0.992;0.992;0.977	D	0.97014	0.9738	10	0.40728	T	0.16	-32.1783	17.7755	0.88505	0.0:1.0:0.0:0.0	.	140;149;140;140;149;149	B4E117;B4DRT1;G5E975;Q17S11;Q12824;C9JTA6	.;.;.;.;SNF5_HUMAN;.	K	149;140;149;140	ENSP00000388489:T149K;ENSP00000340883:T140K;ENSP00000263121:T149K;ENSP00000383984:T140K	ENSP00000263121:T149K	T	+	2	0	SMARCB1	22473214	1.000000	0.71417	0.993000	0.49108	0.928000	0.56348	7.818000	0.86416	2.534000	0.85438	0.644000	0.83932	ACA		PASS	0.567	SMARCB1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000319872.1	NM_003073		21	109	21	109	---	---	---	---
PHF21B	112885	broad.mit.edu	37	22	45312219	45312219	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2766-01A-01D-1522-08	TCGA-66-2766-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	452b75d0-1818-46aa-8804-9cfc0bd66449	81a4d615-e95e-4c17-87f7-c06d8dd4975a	g.chr22:45312219C>T	ENST00000313237.5	-	4	655	c.505G>A	c.(505-507)Gtg>Atg	p.V169M	PHF21B_ENST00000403565.1_Missense_Mutation_p.V7M|PHF21B_ENST00000396103.3_Missense_Mutation_p.V169M|PHF21B_ENST00000447824.3_Missense_Mutation_p.V157M|PHF21B_ENST00000404079.2_Missense_Mutation_p.V157M	NM_138415.4	NP_612424.1	Q96EK2	PF21B_HUMAN	PHD finger protein 21B	169							zinc ion binding (GO:0008270)	p.V169M(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(14)|ovary(2)|prostate(1)|skin(2)	25		all_neural(38;0.00802)|Glioma(61;0.0353)|Ovarian(80;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0203)		ACCACAGACACGGCGGTGCTG	0.677																																						uc003bfn.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(1)	3						c.(505-507)GTG>ATG		PHD finger protein 21B isoform 1							26.0	31.0	30.0					22																	45312219		2203	4300	6503	SO:0001583	missense	112885						zinc ion binding	g.chr22:45312219C>T	AK091480	CCDS14061.1, CCDS56234.1, CCDS63504.1	22q13.31	2013-01-28			ENSG00000056487	ENSG00000056487		"""Zinc fingers, PHD-type"""	25161	protein-coding gene	gene with protein product			"""PHD finger protein 4"""	PHF4		12477932	Standard	NM_138415		Approved	BHC80L, FLJ34161	uc011aql.2	Q96EK2	OTTHUMG00000151199	ENST00000313237.5:c.505G>A	22.37:g.45312219C>T	ENSP00000324403:p.Val169Met					PHF21B_uc003bfm.2_Missense_Mutation_p.V7M|PHF21B_uc011aqk.1_Missense_Mutation_p.V157M|PHF21B_uc011aql.1_Missense_Mutation_p.V169M|PHF21B_uc011aqm.1_Missense_Mutation_p.V157M	p.V169M	NM_138415	NP_612424	Q96EK2	PF21B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (28;0.0203)	4	656	-		all_neural(38;0.00802)|Glioma(61;0.0353)|Ovarian(80;0.0731)	169					B0QYW3|B0QYW4|B3KRU4|B7Z4F8|Q5TFL2|Q6ICC0	Missense_Mutation	SNP	ENST00000313237.5	37	c.505G>A	CCDS14061.1	.	.	.	.	.	.	.	.	.	.	C	19.09	3.759582	0.69763	.	.	ENSG00000056487	ENST00000403565;ENST00000313237;ENST00000396103;ENST00000404079;ENST00000447824;ENST00000414269;ENST00000420689	D;D;D;D;T;T;T	0.88975	-2.45;-1.9;-1.68;-1.68;1.33;0.66;0.53	4.64	3.63	0.41609	.	0.494968	0.17628	N	0.167504	D	0.90830	0.7120	L	0.39898	1.24	0.33788	D	0.62514	D;D;D;D;D	0.89917	0.989;0.994;0.99;0.998;1.0	P;P;P;P;D	0.85130	0.606;0.828;0.677;0.748;0.997	D	0.91028	0.4862	10	0.30078	T	0.28	-19.419	12.9756	0.58537	0.0:0.9224:0.0:0.0776	.	157;169;157;169;7	B7Z657;Q96EK2-3;B7Z4F8;Q96EK2;B1AHC5	.;.;.;PF21B_HUMAN;.	M	7;169;169;157;157;7;157	ENSP00000385053:V7M;ENSP00000324403:V169M;ENSP00000379410:V169M;ENSP00000385105:V157M;ENSP00000388619:V157M;ENSP00000401091:V7M;ENSP00000401294:V157M	ENSP00000324403:V169M	V	-	1	0	PHF21B	43690883	0.972000	0.33761	0.998000	0.56505	0.979000	0.70002	2.277000	0.43417	1.198000	0.43158	0.650000	0.86243	GTG		PASS	0.677	PHF21B-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000321731.2	NM_138415		8	15	8	15	---	---	---	---
SYTL5	94122	broad.mit.edu	37	X	37967889	37967889	+	Silent	SNP	G	G	A			TCGA-66-2766-01A-01D-1522-08	TCGA-66-2766-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	452b75d0-1818-46aa-8804-9cfc0bd66449	81a4d615-e95e-4c17-87f7-c06d8dd4975a	g.chrX:37967889G>A	ENST00000357972.5	+	12	1917	c.1371G>A	c.(1369-1371)cgG>cgA	p.R457R	SYTL5_ENST00000297875.2_Silent_p.R457R|TM4SF2_ENST00000465127.1_Intron|SYTL5_ENST00000456733.2_Silent_p.R479R			Q8TDW5	SYTL5_HUMAN	synaptotagmin-like 5	457	C2 1. {ECO:0000255|PROSITE- ProRule:PRU00041}.				exocytosis (GO:0006887)|intracellular protein transport (GO:0006886)	membrane (GO:0016020)	metal ion binding (GO:0046872)	p.R457R(1)		central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(9)|lung(23)|prostate(1)|skin(2)|urinary_tract(1)	44						ACAAGTCCCGGAACAACAAGC	0.333																																						uc004ddu.2																			1	Substitution - coding silent(1)		lung(1)	skin(1)	1						c.(1369-1371)CGG>CGA		synaptotagmin-like 5 isoform 1							90.0	72.0	78.0					X																	37967889		2201	4299	6500	SO:0001819	synonymous_variant	94122				intracellular protein transport	membrane	metal ion binding|Rab GTPase binding	g.chrX:37967889G>A		CCDS14244.1, CCDS55399.1	Xp21.1	2008-02-05			ENSG00000147041	ENSG00000147041			15589	protein-coding gene	gene with protein product	"""exophilin 9"""						Standard	NM_138780		Approved		uc004ddx.3	Q8TDW5	OTTHUMG00000033176	ENST00000357972.5:c.1371G>A	X.37:g.37967889G>A						SYTL5_uc004ddv.2_Silent_p.R457R|SYTL5_uc004ddx.2_Silent_p.R479R	p.R457R	NM_001163335	NP_001156807	Q8TDW5	SYTL5_HUMAN			13	1905	+			457			C2 1.		A2RRF2	Silent	SNP	ENST00000357972.5	37	c.1371G>A	CCDS14244.1																																																																																				PASS	0.333	SYTL5-201	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000080883.1	NM_138780		9	1	9	1	---	---	---	---
JADE3	9767	broad.mit.edu	37	X	46913584	46913584	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2766-01A-01D-1522-08	TCGA-66-2766-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	452b75d0-1818-46aa-8804-9cfc0bd66449	81a4d615-e95e-4c17-87f7-c06d8dd4975a	g.chrX:46913584G>T	ENST00000218343.4	+	9	1295	c.997G>T	c.(997-999)Gcc>Tcc	p.A333S	PHF16_ENST00000397189.1_Missense_Mutation_p.A333S	NM_014735.3	NP_055550.1												p.A333S(1)		NS(2)|endometrium(8)|kidney(4)|large_intestine(5)|lung(12)|upper_aerodigestive_tract(2)	33						CTGCATCACTGCCTTCCACGT	0.463																																						uc004dgx.2																			1	Substitution - Missense(1)		lung(1)		0						c.(997-999)GCC>TCC		PHD finger protein 16							55.0	48.0	50.0					X																	46913584		2203	4300	6503	SO:0001583	missense	9767				histone H3 acetylation|histone H4-K12 acetylation|histone H4-K5 acetylation|histone H4-K8 acetylation	histone acetyltransferase complex	zinc ion binding	g.chrX:46913584G>T																												ENST00000218343.4:c.997G>T	X.37:g.46913584G>T	ENSP00000218343:p.Ala333Ser					PHF16_uc004dgy.2_Missense_Mutation_p.A333S	p.A333S	NM_001077445	NP_001070913	Q92613	JADE3_HUMAN			9	1048	+			333						Missense_Mutation	SNP	ENST00000218343.4	37	c.997G>T	CCDS14271.1	.	.	.	.	.	.	.	.	.	.	G	22.8	4.333432	0.81801	.	.	ENSG00000102221	ENST00000397189;ENST00000218343	T;T	0.14144	2.53;2.53	5.14	5.14	0.70334	Zinc finger, PHD-type (1);	0.051835	0.85682	D	0.000000	T	0.35799	0.0944	L	0.58969	1.84	0.54753	D	0.999987	D	0.89917	1.0	D	0.83275	0.996	T	0.06162	-1.0842	10	0.59425	D	0.04	.	17.9754	0.89126	0.0:0.0:1.0:0.0	.	333	Q92613	JADE3_HUMAN	S	333	ENSP00000380373:A333S;ENSP00000218343:A333S	ENSP00000218343:A333S	A	+	1	0	PHF16	46798528	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	5.648000	0.67930	2.265000	0.75225	0.600000	0.82982	GCC		PASS	0.463	PHF16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056376.1			25	41	25	41	---	---	---	---
CFP	5199	broad.mit.edu	37	X	47486233	47486233	+	Silent	SNP	G	G	T			TCGA-66-2766-01A-01D-1522-08	TCGA-66-2766-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	452b75d0-1818-46aa-8804-9cfc0bd66449	81a4d615-e95e-4c17-87f7-c06d8dd4975a	g.chrX:47486233G>T	ENST00000396992.3	-	6	999	c.879C>A	c.(877-879)ggC>ggA	p.G293G	CFP_ENST00000377005.2_Silent_p.G293G|CFP_ENST00000480317.1_5'Flank|CFP_ENST00000247153.3_Silent_p.G293G	NM_001145252.1	NP_001138724.1	P27918	PROP_HUMAN	complement factor properdin	293	TSP type-1 4. {ECO:0000255|PROSITE- ProRule:PRU00210}.				complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|defense response to bacterium (GO:0042742)|immune response (GO:0006955)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449)	extracellular region (GO:0005576)|extracellular space (GO:0005615)		p.G293G(1)		breast(3)|endometrium(4)|kidney(2)|large_intestine(3)|lung(4)|ovary(1)|skin(1)	18						CACAGAAGGGGCCCCCATGCT	0.647																																						uc004dig.3																			1	Substitution - coding silent(1)		lung(1)	breast(2)|lung(1)	3						c.(877-879)GGC>GGA		complement factor properdin precursor							44.0	40.0	42.0					X																	47486233		2203	4299	6502	SO:0001819	synonymous_variant	5199				complement activation, alternative pathway|defense response to bacterium	extracellular space		g.chrX:47486233G>T	M83652	CCDS14282.1	Xp11.4	2014-09-17	2006-03-02	2006-03-02	ENSG00000126759	ENSG00000126759		"""Complement system"""	8864	protein-coding gene	gene with protein product		300383	"""properdin P factor, complement"""	PFC		1783405	Standard	NM_001145252		Approved		uc004dih.3	P27918	OTTHUMG00000021451	ENST00000396992.3:c.879C>A	X.37:g.47486233G>T						CFP_uc004dih.2_Silent_p.G293G|CFP_uc004dii.1_Silent_p.G229G|CFP_uc010nhu.2_Silent_p.G293G	p.G293G	NM_001145252	NP_001138724	P27918	PROP_HUMAN			6	1005	-			293			TSP type-1 4.		O15134|O15135|O15136|O75826	Silent	SNP	ENST00000396992.3	37	c.879C>A	CCDS14282.1																																																																																				PASS	0.647	CFP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056435.2	NM_002621		33	5	33	5	---	---	---	---
AKAP4	8852	broad.mit.edu	37	X	49955644	49955644	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2766-01A-01D-1522-08	TCGA-66-2766-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	452b75d0-1818-46aa-8804-9cfc0bd66449	81a4d615-e95e-4c17-87f7-c06d8dd4975a	g.chrX:49955644C>A	ENST00000376056.2	-	6	2647	c.2497G>T	c.(2497-2499)Gcc>Tcc	p.A833S	AKAP4_ENST00000376064.3_Missense_Mutation_p.A833S|AKAP4_ENST00000376058.2_Missense_Mutation_p.A459S|AKAP4_ENST00000481402.1_5'UTR|AKAP4_ENST00000358526.2_Missense_Mutation_p.A842S					A kinase (PRKA) anchor protein 4									p.A842S(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)					TGTTTCCTGGCCACCTTTCCC	0.532																																						uc004dow.1																			1	Substitution - Missense(1)		lung(1)	kidney(3)|central_nervous_system(2)|ovary(1)|lung(1)|skin(1)	8						c.(2524-2526)GCC>TCC		A-kinase anchor protein 4 isoform 1							194.0	150.0	165.0					X																	49955644		2203	4300	6503	SO:0001583	missense	8852				cell projection organization|single fertilization|sperm motility	cAMP-dependent protein kinase complex|cilium|cytoskeleton|microtubule-based flagellum	protein kinase A binding	g.chrX:49955644C>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.2497G>T	X.37:g.49955644C>A	ENSP00000365224:p.Ala833Ser					AKAP4_uc004dov.1_Missense_Mutation_p.A459S|AKAP4_uc010njp.1_Missense_Mutation_p.A664S|AKAP4_uc004dou.1_Missense_Mutation_p.A833S	p.A842S	NM_003886	NP_003877	Q5JQC9	AKAP4_HUMAN			6	2648	-	Ovarian(276;0.236)		842						Missense_Mutation	SNP	ENST00000376056.2	37	c.2524G>T	CCDS14330.1	.	.	.	.	.	.	.	.	.	.	C	10.23	1.293169	0.23564	.	.	ENSG00000147081	ENST00000376056;ENST00000376058;ENST00000358526;ENST00000376064	T;T;T;T	0.08282	3.11;3.11;3.11;3.11	4.61	3.73	0.42828	A-kinase anchor 110kDa, C-terminal (1);	0.128524	0.35262	N	0.003322	T	0.13072	0.0317	M	0.63428	1.95	0.27547	N	0.950623	P;P	0.52170	0.749;0.951	B;P	0.49451	0.297;0.611	T	0.05257	-1.0896	9	.	.	.	-10.0446	6.9844	0.24721	0.0:0.8732:0.0:0.1268	.	842;459	Q5JQC9;A6ND82	AKAP4_HUMAN;.	S	833;459;842;833	ENSP00000365224:A833S;ENSP00000365226:A459S;ENSP00000351327:A842S;ENSP00000365232:A833S	.	A	-	1	0	AKAP4	49842384	0.997000	0.39634	0.984000	0.44739	0.077000	0.17291	0.499000	0.22546	1.907000	0.55213	0.523000	0.50628	GCC		PASS	0.532	AKAP4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056552.1	NM_003886		92	25	92	25	---	---	---	---
GRIA3	2892	broad.mit.edu	37	X	122528859	122528859	+	Missense_Mutation	SNP	G	G	A			TCGA-66-2766-01A-01D-1522-08	TCGA-66-2766-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	452b75d0-1818-46aa-8804-9cfc0bd66449	81a4d615-e95e-4c17-87f7-c06d8dd4975a	g.chrX:122528859G>A	ENST00000371251.1	+	6	843	c.791G>A	c.(790-792)gGa>gAa	p.G264E	GRIA3_ENST00000371256.5_Missense_Mutation_p.G264E|GRIA3_ENST00000264357.5_Missense_Mutation_p.G264E|GRIA3_ENST00000541091.1_Missense_Mutation_p.G248E|GRIA3_ENST00000542149.1_Missense_Mutation_p.G264E			P42263	GRIA3_HUMAN	glutamate receptor, ionotropic, AMPA 3	264					glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|dendrite (GO:0030425)|endocytic vesicle membrane (GO:0030666)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:0004971)|extracellular-glutamate-gated ion channel activity (GO:0005234)	p.G264E(3)		breast(2)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(8)|lung(25)|ovary(3)|pancreas(2)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)	57					Lithium(DB01356)	ATGCATGGGGGAGCCAACATT	0.428																																						uc004etq.3																			3	Substitution - Missense(3)		lung(3)	ovary(3)|central_nervous_system(1)|pancreas(1)	5						c.(790-792)GGA>GAA		glutamate receptor, ionotrophic, AMPA 3 isoform	L-Glutamic Acid(DB00142)						115.0	104.0	108.0					X																	122528859		2203	4300	6503	SO:0001583	missense	2892				glutamate signaling pathway|synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity	g.chrX:122528859G>A	U10301	CCDS14604.1, CCDS14605.1, CCDS76017.1	Xq25	2012-08-29	2012-02-03		ENSG00000125675	ENSG00000125675		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4573	protein-coding gene	gene with protein product		305915	"""glutamate receptor, ionotrophic, AMPA 3"""	GLUR3		1319477, 10644433	Standard	NM_007325		Approved	GluA3, GLURC, MRX94	uc004etr.4	P42263	OTTHUMG00000022685	ENST00000371251.1:c.791G>A	X.37:g.122528859G>A	ENSP00000360297:p.Gly264Glu					GRIA3_uc004etr.3_Missense_Mutation_p.G264E|GRIA3_uc004ets.3_RNA|GRIA3_uc011muf.1_Missense_Mutation_p.G248E	p.G264E	NM_007325	NP_015564	P42263	GRIA3_HUMAN			7	1084	+			264			Extracellular (Potential).		D3DTF1|Q4VXD5|Q4VXD6|Q9HDA0|Q9HDA1|Q9HDA2|Q9P0H1	Missense_Mutation	SNP	ENST00000371251.1	37	c.791G>A	CCDS14604.1	.	.	.	.	.	.	.	.	.	.	G	13.37	2.216321	0.39201	.	.	ENSG00000125675	ENST00000264357;ENST00000542149;ENST00000371256;ENST00000371251;ENST00000541091	D;D;D;D;D	0.82984	-1.67;-1.67;-1.67;-1.67;-1.67	5.52	4.66	0.58398	Extracellular ligand-binding receptor (1);	0.096556	0.64402	D	0.000001	D	0.89691	0.6788	M	0.69823	2.125	0.80722	D	1	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.97110	0.965;1.0;1.0	D	0.90234	0.4281	10	0.72032	D	0.01	.	12.7222	0.57147	0.0813:0.0:0.9187:0.0	.	248;264;264	B7Z4C0;P42263;P42263-2	.;GRIA3_HUMAN;.	E	264;264;264;264;248	ENSP00000264357:G264E;ENSP00000446146:G264E;ENSP00000360302:G264E;ENSP00000360297:G264E;ENSP00000446440:G248E	ENSP00000264357:G264E	G	+	2	0	GRIA3	122356540	1.000000	0.71417	1.000000	0.80357	0.006000	0.05464	9.813000	0.99286	1.205000	0.43262	-0.199000	0.12753	GGA		PASS	0.428	GRIA3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058854.1	NM_000828		17	165	17	165	---	---	---	---
TENM1	10178	broad.mit.edu	37	X	123514791	123514791	+	Silent	SNP	A	A	G			TCGA-66-2766-01A-01D-1522-08	TCGA-66-2766-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	452b75d0-1818-46aa-8804-9cfc0bd66449	81a4d615-e95e-4c17-87f7-c06d8dd4975a	g.chrX:123514791A>G	ENST00000371130.3	-	31	7836	c.7773T>C	c.(7771-7773)acT>acC	p.T2591T	TENM1_ENST00000422452.2_Silent_p.T2598T|STAG2_ENST00000469481.1_Intron	NM_014253.3	NP_055068.2	Q9UKZ4	TEN1_HUMAN	teneurin transmembrane protein 1	2591					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.T2593T(1)									GCCTCCCCCCAGTGTTACCGA	0.493																																						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.(7771-7773)ACT>ACC		odz, odd Oz/ten-m homolog 1 isoform 3							98.0	72.0	81.0					X																	123514791		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:123514791A>G	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.7773T>C	X.37:g.123514791A>G						ODZ1_uc011muj.1_Silent_p.T2597T|ODZ1_uc010nqy.2_Silent_p.T2598T	p.T2591T	NM_014253	NP_055068	Q9UKZ4	TEN1_HUMAN			31	7837	-			2591			Extracellular (Potential).		B2RTR5|Q5JZ17	Silent	SNP	ENST00000371130.3	37	c.7773T>C	CCDS14609.1																																																																																				PASS	0.493	TENM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058985.1	NM_014253		106	24	106	24	---	---	---	---
LDOC1	23641	broad.mit.edu	37	X	140271147	140271148	+	Missense_Mutation	DNP	GC	GC	TT			TCGA-66-2766-01A-01D-1522-08	TCGA-66-2766-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	452b75d0-1818-46aa-8804-9cfc0bd66449	81a4d615-e95e-4c17-87f7-c06d8dd4975a	g.chrX:140271147_140271148GC>TT	ENST00000370526.2	-	1	162_163	c.59_60GC>AA	c.(58-60)aGC>aAA	p.S20K	LDOC1_ENST00000460721.1_5'UTR	NM_012317.2	NP_036449.1	O95751	LDOC1_HUMAN	leucine zipper, down-regulated in cancer 1	20					negative regulation of cell proliferation (GO:0008285)	nucleus (GO:0005634)		p.S20N(1)|p.S20K(1)|p.S20R(1)		endometrium(6)|large_intestine(1)|lung(6)|ovary(1)	14	Acute lymphoblastic leukemia(192;7.65e-05)					TGTTCTCGATGCTCAGGGCGCG	0.673																																						uc004fbj.2																			3	Substitution - Missense(3)		lung(3)		0						c.(58-60)AGC>AGA|c.(58-60)AGC>AAC		leucine zipper, down-regulated in cancer 1																																				SO:0001583	missense	23641				negative regulation of cell proliferation	nucleus	protein binding	g.chrX:140271147G>T|g.chrX:140271148C>T	AB019527	CCDS14672.1	Xq27	2008-02-05			ENSG00000182195	ENSG00000182195			6548	protein-coding gene	gene with protein product		300402		BCUR1		10403563, 15716091, 16093683	Standard	NM_012317		Approved	Mar7, Mart7	uc004fbj.3	O95751	OTTHUMG00000022558	ENST00000370526.2:c.59_60delinsTT	X.37:g.140271147_140271148delinsTT	ENSP00000359557:p.Ser20Lys						p.S20R|p.S20N	NM_012317	NP_036449	O95751	LDOC1_HUMAN			1	164|163	-	Acute lymphoblastic leukemia(192;7.65e-05)		20					Q6IAR6	Missense_Mutation	SNP	ENST00000370526.2	37	c.60C>A|c.59G>A	CCDS14672.1																																																																																				PASS	0.673	LDOC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058592.1	NM_012317		19	3	19	3	---	---	---	---
VAV3	10451	broad.mit.edu	37	1	108145765	108145766	+	Frame_Shift_Ins	INS	-	-	T			TCGA-66-2766-01A-01D-1522-08	TCGA-66-2766-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	452b75d0-1818-46aa-8804-9cfc0bd66449	81a4d615-e95e-4c17-87f7-c06d8dd4975a	g.chr1:108145765_108145766insT	ENST00000370056.4	-	23	2309_2310	c.2035_2036insA	c.(2035-2037)agafs	p.R679fs	VAV3_ENST00000415432.2_Frame_Shift_Ins_p.R119fs|VAV3_ENST00000527011.1_Frame_Shift_Ins_p.R679fs|VAV3_ENST00000343258.4_5'UTR|VAV3_ENST00000544443.1_Frame_Shift_Ins_p.R83fs	NM_006113.4	NP_006104.4	Q9UKW4	VAV3_HUMAN	vav 3 guanine nucleotide exchange factor	679	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.|Sufficient for interaction with ROS1.				angiogenesis (GO:0001525)|apoptotic signaling pathway (GO:0097190)|B cell receptor signaling pathway (GO:0050853)|blood coagulation (GO:0007596)|cellular response to DNA damage stimulus (GO:0006974)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|lamellipodium assembly (GO:0030032)|neurotrophin TRK receptor signaling pathway (GO:0048011)|neutrophil chemotaxis (GO:0030593)|platelet activation (GO:0030168)|positive regulation of apoptotic process (GO:0043065)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of cell adhesion (GO:0045785)|positive regulation of GTPase activity (GO:0043547)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of signal transduction (GO:0009967)|regulation of Rac GTPase activity (GO:0032314)|regulation of small GTPase mediated signal transduction (GO:0051056)|response to drug (GO:0042493)|small GTPase mediated signal transduction (GO:0007264)|vesicle fusion (GO:0006906)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)|guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|SH3/SH2 adaptor activity (GO:0005070)			NS(2)|breast(5)|endometrium(4)|kidney(2)|large_intestine(14)|lung(20)|ovary(6)|prostate(3)|stomach(1)|urinary_tract(1)	58		all_epithelial(167;5.38e-05)|all_lung(203;0.000314)|Lung NSC(277;0.000594)		Colorectal(144;0.0331)|Lung(183;0.128)|Epithelial(280;0.204)		TGCTTGCAATCTTTCCATTGCT	0.361																																						uc001dvk.1																			0				ovary(5)|lung(2)|breast(2)	9						c.(2035-2037)AGAfs		vav 3 guanine nucleotide exchange factor isoform																																				SO:0001589	frameshift_variant	10451				angiogenesis|apoptosis|B cell receptor signaling pathway|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of B cell proliferation|regulation of Rho protein signal transduction|response to DNA damage stimulus|response to drug|small GTPase mediated signal transduction	cytosol	GTPase activator activity|metal ion binding|SH3/SH2 adaptor activity	g.chr1:108145765_108145766insT	AF118886	CCDS785.1, CCDS44181.1	1p13.3	2013-02-14	2007-07-25		ENSG00000134215	ENSG00000134215		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"", ""SH2 domain containing"""	12659	protein-coding gene	gene with protein product		605541	"""vav 3 oncogene"""				Standard	NM_001079874		Approved		uc001dvk.1	Q9UKW4	OTTHUMG00000010995	ENST00000370056.4:c.2036dupA	1.37:g.108145768_108145768dupT	ENSP00000359073:p.Arg679fs					VAV3_uc010ouu.1_Frame_Shift_Ins_p.R83fs|VAV3_uc001dvj.1_Frame_Shift_Ins_p.R119fs|VAV3_uc010ouv.1_Frame_Shift_Ins_p.R83fs|VAV3_uc010ouw.1_Frame_Shift_Ins_p.R679fs	p.R679fs	NM_006113	NP_006104	Q9UKW4	VAV3_HUMAN		Colorectal(144;0.0331)|Lung(183;0.128)|Epithelial(280;0.204)	23	2089_2090	-		all_epithelial(167;5.38e-05)|all_lung(203;0.000314)|Lung NSC(277;0.000594)	679			SH2.		B1AMM0|B1APV5|B4E232|B7ZLR1|E9PQ97|O60498|O95230|Q9Y5X8	Frame_Shift_Ins	INS	ENST00000370056.4	37	c.2035_2036insA	CCDS785.1																																																																																					0.361	VAV3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030242.2	NM_006113		139	68	139	68	---	---	---	---
CLASP1	23332	broad.mit.edu	37	2	122135144	122135144	+	Frame_Shift_Del	DEL	C	C	-			TCGA-66-2766-01A-01D-1522-08	TCGA-66-2766-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	452b75d0-1818-46aa-8804-9cfc0bd66449	81a4d615-e95e-4c17-87f7-c06d8dd4975a	g.chr2:122135144delC	ENST00000263710.4	-	34	3962	c.3573delG	c.(3571-3573)aagfs	p.K1191fs	CLASP1_ENST00000545861.1_Frame_Shift_Del_p.K898fs|CLASP1_ENST00000397587.3_Frame_Shift_Del_p.K1131fs|CLASP1_ENST00000541859.1_Frame_Shift_Del_p.K908fs|CLASP1_ENST00000409078.3_Frame_Shift_Del_p.K1124fs|CLASP1_ENST00000455322.2_Frame_Shift_Del_p.K1147fs|CLASP1_ENST00000541377.1_Frame_Shift_Del_p.K1130fs	NM_015282.2	NP_056097.1	Q7Z460	CLAP1_HUMAN	cytoplasmic linker associated protein 1	1191					axon guidance (GO:0007411)|cell division (GO:0051301)|establishment of spindle orientation (GO:0051294)|establishment or maintenance of cell polarity (GO:0007163)|exit from mitosis (GO:0010458)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule anchoring (GO:0034453)|microtubule bundle formation (GO:0001578)|microtubule cytoskeleton organization (GO:0000226)|microtubule nucleation (GO:0007020)|microtubule organizing center organization (GO:0031023)|mitotic cell cycle (GO:0000278)|negative regulation of microtubule depolymerization (GO:0007026)|negative regulation of microtubule polymerization or depolymerization (GO:0031111)	cell cortex (GO:0005938)|centrosomal corona (GO:0031592)|centrosome (GO:0005813)|cortical microtubule cytoskeleton (GO:0030981)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|kinetochore (GO:0000776)|kinetochore microtubule (GO:0005828)|membrane (GO:0016020)|spindle microtubule (GO:0005876)	kinetochore binding (GO:0043515)|microtubule binding (GO:0008017)|microtubule plus-end binding (GO:0051010)			NS(2)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(19)|ovary(1)|prostate(1)	47	Renal(3;0.0496)					GAAAACTAAACTTTTCAATGG	0.363																																						uc002tnc.2																			0				ovary(1)|central_nervous_system(1)	2						c.(3571-3573)AAGfs		CLIP-associating protein 1 isoform 1							127.0	107.0	113.0					2																	122135144		1833	4079	5912	SO:0001589	frameshift_variant	23332				axon guidance|cell division|establishment or maintenance of cell polarity|exit from mitosis|G2/M transition of mitotic cell cycle|microtubule anchoring|microtubule bundle formation|microtubule nucleation|microtubule organizing center organization|mitotic prometaphase|negative regulation of microtubule depolymerization	centrosomal corona|condensed chromosome kinetochore|cortical microtubule cytoskeleton|cytoplasmic microtubule|cytosol|Golgi apparatus|kinetochore microtubule	kinetochore binding|microtubule plus-end binding	g.chr2:122135144delC	AB014522		2q14.2-q14.3	2013-01-18			ENSG00000074054	ENSG00000074054			17088	protein-coding gene	gene with protein product	"""multiple asters 1"""	605852				9734811, 10899121, 16914514	Standard	NM_015282		Approved	KIAA0622, MAST1	uc002tnc.3	Q7Z460	OTTHUMG00000153331	ENST00000263710.4:c.3573delG	2.37:g.122135144delC	ENSP00000263710:p.Lys1191fs					CLASP1_uc010yyv.1_Frame_Shift_Del_p.K237fs|CLASP1_uc002tmz.2_Frame_Shift_Del_p.K276fs|CLASP1_uc002tna.2_Frame_Shift_Del_p.K237fs|CLASP1_uc010yyw.1_RNA|CLASP1_uc002tnb.2_RNA|CLASP1_uc010yyx.1_RNA|CLASP1_uc010yyy.1_RNA|CLASP1_uc010yyz.1_Frame_Shift_Del_p.K1132fs|CLASP1_uc010yza.1_Frame_Shift_Del_p.K1124fs|CLASP1_uc010yzb.1_RNA|CLASP1_uc010yzc.1_RNA|CLASP1_uc002tmy.2_Frame_Shift_Del_p.K27fs|CLASP1_uc002tnf.2_Frame_Shift_Del_p.K93fs	p.K1191fs	NM_015282	NP_056097	Q7Z460	CLAP1_HUMAN			33	3963	-	Renal(3;0.0496)		1191					B7ZLX3|O75118|Q2KHQ9|Q5H9P0|Q8N5B8|Q9BQT5	Frame_Shift_Del	DEL	ENST00000263710.4	37	c.3573delG																																																																																						0.363	CLASP1-201	KNOWN	basic	protein_coding	protein_coding		NM_015282		27	15	27	15	---	---	---	---
DLGAP2	9228	broad.mit.edu	37	8	1497416	1497417	+	In_Frame_Ins	INS	-	-	CCACCACGC			TCGA-66-2766-01A-01D-1522-08	TCGA-66-2766-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	452b75d0-1818-46aa-8804-9cfc0bd66449	81a4d615-e95e-4c17-87f7-c06d8dd4975a	g.chr8:1497416_1497417insCCACCACGC	ENST00000421627.2	+	2	691_692	c.557_558insCCACCACGC	c.(556-561)caccac>caCCACCACGCccac	p.190_191insHAH		NM_004745.3	NP_004736.2	Q9P1A6	DLGP2_HUMAN	discs, large (Drosophila) homolog-associated protein 2	269					neuron-neuron synaptic transmission (GO:0007270)	cell junction (GO:0030054)|neurofilament (GO:0005883)|postsynaptic membrane (GO:0045211)				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)		GCGGACGACCACCACCACGCCC	0.668																																						uc003wpl.2																			0					0						c.(556-558)CAC>CACCACCACGCC		discs large-associated protein 2																																				SO:0001652	inframe_insertion	9228				neuron-neuron synaptic transmission	cell junction|neurofilament|postsynaptic density|postsynaptic membrane	protein binding	g.chr8:1497416_1497417insCCACCACGC	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.567_575dupCCACCACGC	8.37:g.1497417_1497425dupCCACCACGC	ENSP00000400258:p.His188_His190dup					DLGAP2_uc003wpm.2_In_Frame_Ins_p.192_193insHHA	p.192_193insHHA	NM_004745	NP_004736	Q9P1A6	DLGP2_HUMAN		BRCA - Breast invasive adenocarcinoma(11;0.000169)|READ - Rectum adenocarcinoma(644;0.171)	2	654_655	+		Ovarian(12;0.0271)|Hepatocellular(245;0.0838)|Colorectal(14;0.0846)	271_272					A1QCF8|A1QCF9|A5D8Y2|O14488|O14664|Q9P1A7	In_Frame_Ins	INS	ENST00000421627.2	37	c.557_558insCCACCACGC	CCDS47760.1																																																																																					0.668	DLGAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374478.1	NM_004745		10	5	10	5	---	---	---	---
POSTN	10631	broad.mit.edu	37	13	38138674	38138675	+	Frame_Shift_Ins	INS	-	-	T			TCGA-66-2766-01A-01D-1522-08	TCGA-66-2766-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	452b75d0-1818-46aa-8804-9cfc0bd66449	81a4d615-e95e-4c17-87f7-c06d8dd4975a	g.chr13:38138674_38138675insT	ENST00000379747.4	-	22	2571_2572	c.2454_2455insA	c.(2452-2457)caagccfs	p.A819fs	POSTN_ENST00000541481.1_Frame_Shift_Ins_p.A732fs|POSTN_ENST00000379742.4_Frame_Shift_Ins_p.A762fs|POSTN_ENST00000379743.4_Frame_Shift_Ins_p.A792fs|POSTN_ENST00000541179.1_Frame_Shift_Ins_p.A764fs|POSTN_ENST00000379749.4_Frame_Shift_Ins_p.A791fs	NM_006475.2	NP_006466.2	Q15063	POSTN_HUMAN	periostin, osteoblast specific factor	819					cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|regulation of Notch signaling pathway (GO:0008593)|skeletal system development (GO:0001501)|tissue development (GO:0009888)	proteinaceous extracellular matrix (GO:0005578)|trans-Golgi network (GO:0005802)	heparin binding (GO:0008201)			cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(16)|lung(22)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	59		Lung NSC(96;2.09e-05)|Prostate(109;0.0513)|Breast(139;0.0538)|Lung SC(185;0.0743)		all cancers(112;2.48e-08)|Epithelial(112;2.78e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000853)|BRCA - Breast invasive adenocarcinoma(63;0.013)|GBM - Glioblastoma multiforme(144;0.0154)		TTTTTGTTGGCTTGCAACTTCC	0.342																																						uc001uwo.3																			0				ovary(2)	2						c.(2452-2457)CAAGCCfs		periostin, osteoblast specific factor isoform 1																																				SO:0001589	frameshift_variant	10631				cell adhesion|skeletal system development	proteinaceous extracellular matrix	heparin binding	g.chr13:38138674_38138675insT	D13665	CCDS9364.1, CCDS45034.1, CCDS53864.1, CCDS66530.1, CCDS66531.1	13q13.3	2008-02-05			ENSG00000133110	ENSG00000133110			16953	protein-coding gene	gene with protein product		608777				8363580, 12235007	Standard	NM_006475		Approved	OSF-2, PN, periostin	uc001uwo.4	Q15063	OTTHUMG00000016751	ENST00000379747.4:c.2455dupA	13.37:g.38138676_38138676dupT	ENSP00000369071:p.Ala819fs					POSTN_uc010tet.1_Frame_Shift_Ins_p.Q319fs|POSTN_uc001uwp.3_Frame_Shift_Ins_p.Q761fs|POSTN_uc001uwr.2_Frame_Shift_Ins_p.Q763fs|POSTN_uc001uwq.2_Frame_Shift_Ins_p.Q733fs|POSTN_uc010teu.1_Frame_Shift_Ins_p.Q791fs|POSTN_uc010tev.1_Frame_Shift_Ins_p.Q731fs|POSTN_uc010tew.1_Frame_Shift_Ins_p.Q703fs	p.Q818fs	NM_006475	NP_006466	Q15063	POSTN_HUMAN		all cancers(112;2.48e-08)|Epithelial(112;2.78e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000853)|BRCA - Breast invasive adenocarcinoma(63;0.013)|GBM - Glioblastoma multiforme(144;0.0154)	22	2572_2573	-		Lung NSC(96;2.09e-05)|Prostate(109;0.0513)|Breast(139;0.0538)|Lung SC(185;0.0743)	818_819					B1ALD8|C0IMJ1|C0IMJ2|C0IMJ4|D2KRH7|F5H628|Q15064|Q29XZ0|Q3KPJ5|Q5VSY5|Q8IZF9	Frame_Shift_Ins	INS	ENST00000379747.4	37	c.2454_2455insA	CCDS9364.1																																																																																					0.342	POSTN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000044566.2	NM_006475		59	118	59	118	---	---	---	---
DIAPH3	81624	broad.mit.edu	37	13	60348879	60348880	+	Frame_Shift_Ins	INS	-	-	T			TCGA-66-2766-01A-01D-1522-08	TCGA-66-2766-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	452b75d0-1818-46aa-8804-9cfc0bd66449	81a4d615-e95e-4c17-87f7-c06d8dd4975a	g.chr13:60348879_60348880insT	ENST00000400324.4	-	26	3461_3462	c.3241_3242insA	c.(3241-3243)aggfs	p.R1081fs	DIAPH3_ENST00000267215.4_Frame_Shift_Ins_p.R1081fs|DIAPH3_ENST00000400319.1_Frame_Shift_Ins_p.R1011fs|DIAPH3_ENST00000400320.1_Frame_Shift_Ins_p.R1035fs|DIAPH3_ENST00000377908.2_Frame_Shift_Ins_p.R1070fs|DIAPH3_ENST00000465066.1_5'UTR|DIAPH3_ENST00000400330.1_Frame_Shift_Ins_p.R1081fs	NM_001042517.1|NM_001258366.1	NP_001035982.1|NP_001245295.1	Q9NSV4	DIAP3_HUMAN	diaphanous-related formin 3	1081	DAD. {ECO:0000255|PROSITE- ProRule:PRU00577}.				actin cytoskeleton organization (GO:0030036)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|liver(1)|lung(20)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	46		Breast(118;0.052)|Prostate(109;0.103)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;2.77e-05)		CATCGGTGTCCTTTTTCTTCTG	0.46																																						uc001vht.2																			0				ovary(2)	2						c.(3241-3243)AGGfs		diaphanous homolog 3 isoform a																																				SO:0001589	frameshift_variant	81624				actin cytoskeleton organization		actin binding|Rho GTPase binding	g.chr13:60348879_60348880insT	AL137718	CCDS41898.1, CCDS58294.1, CCDS58295.1, CCDS58296.1, CCDS58297.1, CCDS73579.1, CCDS73580.1	13q21.2	2013-05-24	2013-05-24		ENSG00000139734	ENSG00000139734			15480	protein-coding gene	gene with protein product		614567	"""diaphanous (Drosophila, homolog) 3"", ""auditory neuropathy, autosomal dominant 1"", ""diaphanous homolog 3 (Drosophila)"""	AUNA1		14767582, 20624953	Standard	NM_030932		Approved	DRF3, FLJ34705, AN, NSDAN	uc001vht.4	Q9NSV4	OTTHUMG00000017004	ENST00000400324.4:c.3242dupA	13.37:g.60348884_60348884dupT	ENSP00000383178:p.Arg1081fs					DIAPH3_uc001vhu.2_Frame_Shift_Ins_p.R818fs	p.R1081fs	NM_001042517	NP_001035982	Q9NSV4	DIAP3_HUMAN		GBM - Glioblastoma multiforme(99;2.77e-05)	26	3460_3461	-		Breast(118;0.052)|Prostate(109;0.103)|Hepatocellular(98;0.132)	1081			DAD.		A2A3B8|A2A3B9|A2A3C0|Q18P99|Q18PA0|Q18PA1|Q2KPB6|Q3ZK23|Q5JTP8|Q5T2S7|Q5XKF6|Q6MZF0|Q6NUP0|Q86VS4|Q8NAV4	Frame_Shift_Ins	INS	ENST00000400324.4	37	c.3241_3242insA	CCDS41898.1																																																																																					0.460	DIAPH3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000045166.3	NM_001042517		87	76	87	76	---	---	---	---
GLP2R	9340	broad.mit.edu	37	17	9729453	9729453	+	Frame_Shift_Del	DEL	C	C	-			TCGA-66-2766-01A-01D-1522-08	TCGA-66-2766-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	452b75d0-1818-46aa-8804-9cfc0bd66449	81a4d615-e95e-4c17-87f7-c06d8dd4975a	g.chr17:9729453delC	ENST00000262441.5	+	1	586	c.73delC	c.(73-75)cccfs	p.P25fs	GLP2R_ENST00000574745.1_Intron	NM_004246.1	NP_004237.1	O95838	GLP2R_HUMAN	glucagon-like peptide 2 receptor	25					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|positive regulation of cell proliferation (GO:0008284)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|glucagon receptor activity (GO:0004967)			endometrium(4)|large_intestine(7)|lung(22)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	44					Glucagon recombinant(DB00040)|Teduglutide(DB08900)	CCACGAGCTGCCCATGGGCAT	0.657																																						uc002gmd.1																			0				lung(2)|ovary(1)	3						c.(73-75)CCCfs		glucagon-like peptide 2 receptor precursor	Glucagon recombinant(DB00040)						43.0	38.0	40.0					17																	9729453		2203	4300	6503	SO:0001589	frameshift_variant	9340				G-protein signaling, coupled to cAMP nucleotide second messenger|positive regulation of cell proliferation	integral to membrane|plasma membrane		g.chr17:9729453delC	AF105367	CCDS11150.1	17p13.3	2012-08-10			ENSG00000065325	ENSG00000065325		"""GPCR / Class B : Glucagon receptors"""	4325	protein-coding gene	gene with protein product		603659				9990065	Standard	NM_004246		Approved		uc002gmd.1	O95838	OTTHUMG00000130269	ENST00000262441.5:c.73delC	17.37:g.9729453delC	ENSP00000262441:p.Pro25fs					GLP2R_uc010cog.1_RNA	p.P25fs	NM_004246	NP_004237	O95838	GLP2R_HUMAN			1	73	+			25			Extracellular (Potential).		Q4VAT3	Frame_Shift_Del	DEL	ENST00000262441.5	37	c.73delC	CCDS11150.1																																																																																					0.657	GLP2R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252601.4			10	19	10	19	---	---	---	---
IL2RB	3560	broad.mit.edu	37	22	37535167	37535167	+	Frame_Shift_Del	DEL	G	G	-			TCGA-66-2766-01A-01D-1522-08	TCGA-66-2766-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	452b75d0-1818-46aa-8804-9cfc0bd66449	81a4d615-e95e-4c17-87f7-c06d8dd4975a	g.chr22:37535167delG	ENST00000216223.5	-	5	576	c.378delC	c.(376-378)cccfs	p.P126fs	AL022314.1_ENST00000516333.1_RNA	NM_000878.3	NP_000869.1	P14784	IL2RB_HUMAN	interleukin 2 receptor, beta	126					cytokine-mediated signaling pathway (GO:0019221)|interleukin-2-mediated signaling pathway (GO:0038110)|negative regulation of apoptotic process (GO:0043066)|protein complex assembly (GO:0006461)|signal transduction (GO:0007165)|viral process (GO:0016032)	external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	interleukin-2 binding (GO:0019976)|interleukin-2 receptor activity (GO:0004911)			breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|skin(5)	23					Aldesleukin(DB00041)|Basiliximab(DB00074)|Daclizumab(DB00111)|Denileukin diftitox(DB00004)	GGTTCTCAAAGGGCTTGAAGT	0.607																																						uc003aqv.1																			0					0						c.(376-378)CCCfs		interleukin 2 receptor beta precursor	Aldesleukin(DB00041)|Basiliximab(DB00074)|Daclizumab(DB00111)|Denileukin diftitox(DB00004)						74.0	47.0	56.0					22																	37535167		2203	4300	6503	SO:0001589	frameshift_variant	3560				interspecies interaction between organisms|positive regulation of survival gene product expression|protein complex assembly	external side of plasma membrane|integral to plasma membrane	interleukin-2 receptor activity	g.chr22:37535167delG	M26062	CCDS13942.1	22q13	2011-02-15			ENSG00000100385	ENSG00000100385		"""Interleukins and interleukin receptors"", ""CD molecules"""	6009	protein-coding gene	gene with protein product		146710	"""interleukin 15 receptor, beta"""	IL15RB			Standard	NM_000878		Approved	CD122	uc003aqv.1	P14784	OTTHUMG00000150534	ENST00000216223.5:c.378delC	22.37:g.37535167delG	ENSP00000216223:p.Pro126fs						p.P126fs	NM_000878	NP_000869	P14784	IL2RB_HUMAN			5	509	-			126			Extracellular (Potential).		B2R765	Frame_Shift_Del	DEL	ENST00000216223.5	37	c.378delC	CCDS13942.1																																																																																					0.607	IL2RB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318792.1			20	12	20	12	---	---	---	---
