#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
PRKCZ	5590	broad.mit.edu	37	1	2116079	2116079	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2756-01A-01D-1522-08	TCGA-66-2756-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	472c95e6-eccb-4988-be16-fdace73b2ed8	ff4f5936-f847-42ad-aedf-6a6a7fff6002	g.chr1:2116079C>A	ENST00000400921.2	+	14	1767	c.1084C>A	c.(1084-1086)Ctg>Atg	p.L362M	PRKCZ_ENST00000479263.1_3'UTR|PRKCZ_ENST00000400920.1_Missense_Mutation_p.L362M|RP11-181G12.2_ENST00000444529.1_RNA|C1orf86_ENST00000400919.3_3'UTR|RP11-181G12.2_ENST00000333854.2_RNA|RP11-181G12.2_ENST00000536678.1_RNA	NM_001033581.1	NP_001028753.1	Q05513	KPCZ_HUMAN	protein kinase C, zeta	545	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				actin cytoskeleton reorganization (GO:0031532)|activation of phospholipase D activity (GO:0031584)|activation of protein kinase B activity (GO:0032148)|blood coagulation (GO:0007596)|cell migration (GO:0016477)|establishment of cell polarity (GO:0030010)|inflammatory response (GO:0006954)|insulin receptor signaling pathway (GO:0008286)|long-term memory (GO:0007616)|long-term synaptic potentiation (GO:0060291)|membrane hyperpolarization (GO:0060081)|microtubule cytoskeleton organization (GO:0000226)|negative regulation of apoptotic process (GO:0043066)|negative regulation of hydrolase activity (GO:0051346)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of peptidyl-tyrosine phosphorylation (GO:0050732)|negative regulation of protein complex assembly (GO:0031333)|neuron projection extension (GO:1990138)|peptidyl-serine phosphorylation (GO:0018105)|platelet activation (GO:0030168)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of glucose import (GO:0046326)|positive regulation of insulin receptor signaling pathway (GO:0046628)|positive regulation of interleukin-10 secretion (GO:2001181)|positive regulation of interleukin-13 secretion (GO:2000667)|positive regulation of interleukin-4 production (GO:0032753)|positive regulation of interleukin-5 secretion (GO:2000664)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of T-helper 2 cell cytokine production (GO:2000553)|positive regulation of T-helper 2 cell differentiation (GO:0045630)|protein heterooligomerization (GO:0051291)|protein kinase C signaling (GO:0070528)|protein localization to plasma membrane (GO:0072659)|protein phosphorylation (GO:0006468)|signal transduction (GO:0007165)|transforming growth factor beta receptor signaling pathway (GO:0007179)|vesicle transport along microtubule (GO:0047496)	apical cortex (GO:0045179)|apical plasma membrane (GO:0016324)|axon hillock (GO:0043203)|cell junction (GO:0030054)|cell leading edge (GO:0031252)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|membrane raft (GO:0045121)|microtubule organizing center (GO:0005815)|myelin sheath abaxonal region (GO:0035748)|nuclear envelope (GO:0005635)|nuclear matrix (GO:0016363)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|tight junction (GO:0005923)	ATP binding (GO:0005524)|insulin receptor substrate binding (GO:0043560)|potassium channel regulator activity (GO:0015459)|protein kinase activity (GO:0004672)|protein kinase C activity (GO:0004697)|protein serine/threonine kinase activity (GO:0004674)|zinc ion binding (GO:0008270)	p.L545M(2)		breast(2)|central_nervous_system(4)|endometrium(1)|large_intestine(5)|lung(5)|stomach(1)	18	all_cancers(77;0.000177)|all_epithelial(69;6.41e-05)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;1.14e-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;2.96e-37)|OV - Ovarian serous cystadenocarcinoma(86;3.3e-23)|GBM - Glioblastoma multiforme(42;2.85e-08)|Colorectal(212;6.15e-05)|COAD - Colon adenocarcinoma(227;0.000241)|Kidney(185;0.00294)|BRCA - Breast invasive adenocarcinoma(365;0.00493)|STAD - Stomach adenocarcinoma(132;0.00669)|KIRC - Kidney renal clear cell carcinoma(229;0.0411)|Lung(427;0.213)	Tamoxifen(DB00675)	CGACTACGGTCTGGACAACTT	0.607																																						uc001aiq.2																			2	Substitution - Missense(2)		lung(2)	central_nervous_system(4)|large_intestine(2)	6						c.(1633-1635)CTG>ATG		protein kinase C, zeta isoform 1							59.0	52.0	54.0					1																	2116079		2203	4300	6503	SO:0001583	missense	5590				anti-apoptosis|intracellular signal transduction|negative regulation of insulin receptor signaling pathway|negative regulation of peptidyl-tyrosine phosphorylation|negative regulation of protein complex assembly|peptidyl-serine phosphorylation|platelet activation	endosome	ATP binding|protein kinase C activity|zinc ion binding	g.chr1:2116079C>A	BC014270	CCDS37.1, CCDS41229.1, CCDS55563.1	1p36.33-p36.2	2009-07-10			ENSG00000067606	ENSG00000067606	2.7.11.1		9412	protein-coding gene	gene with protein product		176982					Standard	NM_001242874		Approved	PKC2	uc001aiq.3	Q05513	OTTHUMG00000001238	ENST00000400921.2:c.1084C>A	1.37:g.2116079C>A	ENSP00000383712:p.Leu362Met					PRKCZ_uc001air.2_Missense_Mutation_p.L362M|PRKCZ_uc010nyw.1_Missense_Mutation_p.L441M|PRKCZ_uc001ais.2_Missense_Mutation_p.L362M|PRKCZ_uc009vla.2_Missense_Mutation_p.L369M|PRKCZ_uc010nyx.1_RNA|PRKCZ_uc001ait.2_Missense_Mutation_p.L393M|uc009vlc.1_5'Flank|C1orf86_uc001aiv.1_RNA|C1orf86_uc001aiw.1_RNA|C1orf86_uc001aix.1_3'UTR	p.L545M	NM_002744	NP_002735	Q05513	KPCZ_HUMAN		Epithelial(90;2.96e-37)|OV - Ovarian serous cystadenocarcinoma(86;3.3e-23)|GBM - Glioblastoma multiforme(42;2.85e-08)|Colorectal(212;6.15e-05)|COAD - Colon adenocarcinoma(227;0.000241)|Kidney(185;0.00294)|BRCA - Breast invasive adenocarcinoma(365;0.00493)|STAD - Stomach adenocarcinoma(132;0.00669)|KIRC - Kidney renal clear cell carcinoma(229;0.0411)|Lung(427;0.213)	17	1794	+	all_cancers(77;0.000177)|all_epithelial(69;6.41e-05)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;1.14e-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)	545			AGC-kinase C-terminal.		A8K4N0|A8MU64|B7Z2J7|E9PCW2|Q15207|Q5SYT5|Q969S4	Missense_Mutation	SNP	ENST00000400921.2	37	c.1633C>A	CCDS41229.1	.	.	.	.	.	.	.	.	.	.	C	14.84	2.655313	0.47467	.	.	ENSG00000067606	ENST00000378567;ENST00000400921;ENST00000461106;ENST00000400920	T;T;T;T	0.58506	0.33;0.33;0.33;0.33	5.47	2.59	0.31030	Protein kinase, C-terminal (1);AGC-kinase, C-terminal (2);Protein kinase-like domain (1);	0.000000	0.64402	D	0.000006	T	0.76926	0.4056	M	0.91818	3.245	0.80722	D	1	D;D;D;D	0.71674	0.998;0.998;0.998;0.998	D;D;D;D	0.72982	0.979;0.966;0.979;0.979	T	0.76473	-0.2946	10	0.72032	D	0.01	.	8.3647	0.32380	0.0:0.6588:0.0:0.3412	.	441;369;441;545	E9PCW2;B3KUN5;B7Z2J7;Q05513	.;.;.;KPCZ_HUMAN	M	545;362;441;362	ENSP00000367830:L545M;ENSP00000383712:L362M;ENSP00000426412:L441M;ENSP00000383711:L362M	ENSP00000367830:L545M	L	+	1	2	PRKCZ	2105939	0.120000	0.22244	0.399000	0.26333	0.551000	0.35334	0.574000	0.23714	0.276000	0.22118	0.491000	0.48974	CTG		PASS	0.607	PRKCZ-009	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000098533.3	NM_002744		16	14	16	14	---	---	---	---
ACTRT2	140625	broad.mit.edu	37	1	2939247	2939247	+	Missense_Mutation	SNP	G	G	C			TCGA-66-2756-01A-01D-1522-08	TCGA-66-2756-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	472c95e6-eccb-4988-be16-fdace73b2ed8	ff4f5936-f847-42ad-aedf-6a6a7fff6002	g.chr1:2939247G>C	ENST00000378404.2	+	1	1202	c.997G>C	c.(997-999)Gct>Cct	p.A333P		NM_080431.4	NP_536356.3	Q8TDY3	ACTT2_HUMAN	actin-related protein T2	333						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)		p.A333P(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(15)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	26	all_cancers(77;0.00205)|all_epithelial(69;0.0011)|Ovarian(185;0.0634)|Lung NSC(156;0.0893)|all_lung(157;0.0909)	all_epithelial(116;2.66e-20)|all_lung(118;1.56e-08)|Lung NSC(185;2.54e-06)|Breast(487;0.00156)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123)		Epithelial(90;7.19e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.15e-22)|GBM - Glioblastoma multiforme(42;1.1e-12)|Colorectal(212;3.98e-05)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.000329)|BRCA - Breast invasive adenocarcinoma(365;0.000949)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.125)		CAAGATCACGGCTCCCCCCGA	0.617																																						uc001ajz.2																			1	Substitution - Missense(1)		lung(1)		0						c.(997-999)GCT>CCT		actin-related protein M2							61.0	69.0	66.0					1																	2939247		2203	4300	6503	SO:0001583	missense	140625					cytoplasm|cytoskeleton		g.chr1:2939247G>C	AF440740, AB057364	CCDS45.1	1p36.3	2008-02-05	2005-11-22		ENSG00000169717	ENSG00000169717			24026	protein-coding gene	gene with protein product		608535				11750065, 12243744	Standard	NM_080431		Approved	Arp-T2, ARPM2, FLJ25424	uc001ajz.3	Q8TDY3	OTTHUMG00000000562	ENST00000378404.2:c.997G>C	1.37:g.2939247G>C	ENSP00000367658:p.Ala333Pro						p.A333P	NM_080431	NP_536356	Q8TDY3	ACTT2_HUMAN		Epithelial(90;7.19e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.15e-22)|GBM - Glioblastoma multiforme(42;1.1e-12)|Colorectal(212;3.98e-05)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.000329)|BRCA - Breast invasive adenocarcinoma(365;0.000949)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.125)	1	1202	+	all_cancers(77;0.00205)|all_epithelial(69;0.0011)|Ovarian(185;0.0634)|Lung NSC(156;0.0893)|all_lung(157;0.0909)	all_epithelial(116;2.66e-20)|all_lung(118;1.56e-08)|Lung NSC(185;2.54e-06)|Breast(487;0.00156)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123)	333					B1AN52|Q8NHS6|Q8TDG1	Missense_Mutation	SNP	ENST00000378404.2	37	c.997G>C	CCDS45.1	.	.	.	.	.	.	.	.	.	.	G	21.2	4.115581	0.77323	.	.	ENSG00000169717	ENST00000378404	D	0.95690	-3.78	4.65	4.65	0.58169	.	0.000000	0.53938	D	0.000057	D	0.97914	0.9314	M	0.90309	3.105	0.80722	D	1	D	0.62365	0.991	D	0.67548	0.952	D	0.99091	1.0840	10	0.87932	D	0	.	16.1079	0.81237	0.0:0.0:1.0:0.0	.	333	Q8TDY3	ACTT2_HUMAN	P	333	ENSP00000367658:A333P	ENSP00000367658:A333P	A	+	1	0	ACTRT2	2929107	1.000000	0.71417	0.030000	0.17652	0.805000	0.45488	6.578000	0.74032	2.136000	0.66102	0.561000	0.74099	GCT		PASS	0.617	ACTRT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000001331.1	NM_080431		23	48	23	48	---	---	---	---
CCDC27	148870	broad.mit.edu	37	1	3679954	3679954	+	Missense_Mutation	SNP	G	G	A			TCGA-66-2756-01A-01D-1522-08	TCGA-66-2756-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	472c95e6-eccb-4988-be16-fdace73b2ed8	ff4f5936-f847-42ad-aedf-6a6a7fff6002	g.chr1:3679954G>A	ENST00000294600.2	+	7	1321	c.1237G>A	c.(1237-1239)Gcc>Acc	p.A413T		NM_152492.2	NP_689705.2	Q2M243	CCD27_HUMAN	coiled-coil domain containing 27	413	Glu-rich.							p.A413T(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(2)|lung(17)|prostate(1)|skin(2)|urinary_tract(2)	36	all_cancers(77;0.0385)|Ovarian(185;0.0634)|Lung NSC(156;0.21)|all_lung(157;0.218)	all_epithelial(116;5.52e-17)|all_lung(118;1.04e-06)|Lung NSC(185;0.000214)|Renal(390;0.00357)|Breast(487;0.00446)|Hepatocellular(190;0.0218)|Lung SC(97;0.0367)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.127)		Epithelial(90;1.11e-38)|OV - Ovarian serous cystadenocarcinoma(86;1.35e-22)|GBM - Glioblastoma multiforme(42;3.46e-16)|Colorectal(212;1.17e-05)|COAD - Colon adenocarcinoma(227;5.76e-05)|Kidney(185;0.00036)|BRCA - Breast invasive adenocarcinoma(365;0.000696)|KIRC - Kidney renal clear cell carcinoma(229;0.00558)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.203)		GGAGCTGCTGGCCCAGCTGGA	0.627																																						uc001akv.2																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(1237-1239)GCC>ACC		coiled-coil domain containing 27							64.0	65.0	64.0					1																	3679954		2203	4300	6503	SO:0001583	missense	148870							g.chr1:3679954G>A		CCDS50.1	1p36.32	2008-02-05			ENSG00000162592	ENSG00000162592			26546	protein-coding gene	gene with protein product							Standard	NM_152492		Approved	FLJ32825	uc001akv.2	Q2M243	OTTHUMG00000003504	ENST00000294600.2:c.1237G>A	1.37:g.3679954G>A	ENSP00000294600:p.Ala413Thr						p.A413T	NM_152492	NP_689705	Q2M243	CCD27_HUMAN		Epithelial(90;1.11e-38)|OV - Ovarian serous cystadenocarcinoma(86;1.35e-22)|GBM - Glioblastoma multiforme(42;3.46e-16)|Colorectal(212;1.17e-05)|COAD - Colon adenocarcinoma(227;5.76e-05)|Kidney(185;0.00036)|BRCA - Breast invasive adenocarcinoma(365;0.000696)|KIRC - Kidney renal clear cell carcinoma(229;0.00558)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.203)	7	1318	+	all_cancers(77;0.0385)|Ovarian(185;0.0634)|Lung NSC(156;0.21)|all_lung(157;0.218)	all_epithelial(116;5.52e-17)|all_lung(118;1.04e-06)|Lung NSC(185;0.000214)|Renal(390;0.00357)|Breast(487;0.00446)|Hepatocellular(190;0.0218)|Lung SC(97;0.0367)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.127)	413			Glu-rich.		Q5TBV3|Q96M50	Missense_Mutation	SNP	ENST00000294600.2	37	c.1237G>A	CCDS50.1	.	.	.	.	.	.	.	.	.	.	G	16.22	3.062908	0.55432	.	.	ENSG00000162592	ENST00000294600	T	0.21734	1.99	4.34	3.42	0.39159	.	0.238625	0.29438	N	0.012146	T	0.28599	0.0708	L	0.36672	1.1	0.09310	N	1	D	0.89917	1.0	D	0.74674	0.984	T	0.08638	-1.0712	10	0.15952	T	0.53	-22.632	8.4909	0.33100	0.1119:0.0:0.8881:0.0	.	413	Q2M243	CCD27_HUMAN	T	413	ENSP00000294600:A413T	ENSP00000294600:A413T	A	+	1	0	CCDC27	3669814	0.257000	0.24022	0.039000	0.18376	0.700000	0.40528	2.857000	0.48349	1.133000	0.42147	0.462000	0.41574	GCC		PASS	0.627	CCDC27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000009740.1	NM_152492		15	43	15	43	---	---	---	---
GPR153	387509	broad.mit.edu	37	1	6314950	6314950	+	Missense_Mutation	SNP	G	G	A	rs575754376		TCGA-66-2756-01A-01D-1522-08	TCGA-66-2756-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	472c95e6-eccb-4988-be16-fdace73b2ed8	ff4f5936-f847-42ad-aedf-6a6a7fff6002	g.chr1:6314950G>A	ENST00000377893.2	-	2	275	c.16C>T	c.(16-18)Cgg>Tgg	p.R6W		NM_207370.2	NP_997253.2	Q6NV75	GP153_HUMAN	G protein-coupled receptor 153	6						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.R6W(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|liver(1)|lung(7)|skin(1)	14	Ovarian(185;0.0634)	all_cancers(23;8.07e-33)|all_epithelial(116;4.45e-18)|all_lung(118;1.09e-06)|all_neural(13;3.68e-06)|Lung NSC(185;1.52e-05)|all_hematologic(16;2.39e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00475)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)		Epithelial(90;1.91e-37)|GBM - Glioblastoma multiforme(13;4.87e-29)|OV - Ovarian serous cystadenocarcinoma(86;3.03e-19)|Colorectal(212;1.33e-07)|COAD - Colon adenocarcinoma(227;1.36e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|BRCA - Breast invasive adenocarcinoma(365;0.00109)|STAD - Stomach adenocarcinoma(132;0.00313)|READ - Rectum adenocarcinoma(331;0.0642)|Lung(427;0.246)		CCAGGCAGCCGCCGCTCATCA	0.662													G|||	1	0.000199681	0.0	0.0	5008	,	,		15214	0.0		0.0	False		,,,				2504	0.001					uc001amp.1																			1	Substitution - Missense(1)		lung(1)		0						c.(16-18)CGG>TGG		G protein-coupled receptor 153							20.0	25.0	23.0					1																	6314950		2077	4085	6162	SO:0001583	missense	387509					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr1:6314950G>A	AY255529	CCDS64.1	1p36.31	2012-08-21			ENSG00000158292	ENSG00000158292		"""GPCR / Class A : Orphans"""	23618	protein-coding gene	gene with protein product		614269				12679517	Standard	NM_207370		Approved	PGR1	uc001amp.2	Q6NV75	OTTHUMG00000001272	ENST00000377893.2:c.16C>T	1.37:g.6314950G>A	ENSP00000367125:p.Arg6Trp						p.R6W	NM_207370	NP_997253	Q6NV75	GP153_HUMAN		Epithelial(90;1.91e-37)|GBM - Glioblastoma multiforme(13;4.87e-29)|OV - Ovarian serous cystadenocarcinoma(86;3.03e-19)|Colorectal(212;1.33e-07)|COAD - Colon adenocarcinoma(227;1.36e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|BRCA - Breast invasive adenocarcinoma(365;0.00109)|STAD - Stomach adenocarcinoma(132;0.00313)|READ - Rectum adenocarcinoma(331;0.0642)|Lung(427;0.246)	2	276	-	Ovarian(185;0.0634)	all_cancers(23;8.07e-33)|all_epithelial(116;4.45e-18)|all_lung(118;1.09e-06)|all_neural(13;3.68e-06)|Lung NSC(185;1.52e-05)|all_hematologic(16;2.39e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00475)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)	6			Extracellular (Potential).		Q5TGR5|Q6AHW8|Q86SP8	Missense_Mutation	SNP	ENST00000377893.2	37	c.16C>T	CCDS64.1	.	.	.	.	.	.	.	.	.	.	G	16.62	3.175027	0.57692	.	.	ENSG00000158292	ENST00000377893	T	0.25579	1.79	5.18	1.78	0.24846	.	0.129717	0.50627	D	0.000111	T	0.27967	0.0689	N	0.24115	0.695	0.33796	D	0.626029	D	0.89917	1.0	P	0.60415	0.874	T	0.38714	-0.9648	10	0.72032	D	0.01	-38.5722	8.6623	0.34099	0.0:0.1114:0.4682:0.4205	.	6	Q6NV75	GP153_HUMAN	W	6	ENSP00000367125:R6W	ENSP00000367125:R6W	R	-	1	2	GPR153	6237537	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	2.633000	0.46519	0.513000	0.28278	0.557000	0.71058	CGG		PASS	0.662	GPR153-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000003717.2			10	8	10	8	---	---	---	---
CAMTA1	23261	broad.mit.edu	37	1	7725091	7725091	+	Missense_Mutation	SNP	G	G	C			TCGA-66-2756-01A-01D-1522-08	TCGA-66-2756-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	472c95e6-eccb-4988-be16-fdace73b2ed8	ff4f5936-f847-42ad-aedf-6a6a7fff6002	g.chr1:7725091G>C	ENST00000303635.7	+	9	2691	c.2484G>C	c.(2482-2484)caG>caC	p.Q828H	CAMTA1_ENST00000439411.2_Missense_Mutation_p.Q828H	NM_015215.2	NP_056030.1	Q9Y6Y1	CMTA1_HUMAN	calmodulin binding transcription activator 1	828					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)	p.Q828H(1)		breast(5)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(11)|lung(29)|ovary(5)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	85	Ovarian(185;0.0634)	all_epithelial(116;8.38e-23)|all_lung(118;5.87e-07)|Lung NSC(185;3.43e-06)|Renal(390;0.000219)|Breast(487;0.000307)|Colorectal(325;0.000615)|Hepatocellular(190;0.0088)|Myeloproliferative disorder(586;0.0303)|Ovarian(437;0.0388)		UCEC - Uterine corpus endometrioid carcinoma (279;0.101)|Colorectal(212;1.33e-05)|COAD - Colon adenocarcinoma(227;0.000235)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|Kidney(185;0.00244)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0179)|READ - Rectum adenocarcinoma(331;0.133)		GCCCCCAGCAGGGTAGCCTGC	0.711			T	WWTR1	epitheliod hemangioendothelioma																																	uc001aoi.2				Dom	yes		1	1p36.31-p36.23	611501		calmodulin binding transcription activator 1			M					1	Substitution - Missense(1)		lung(1)	ovary(5)|central_nervous_system(2)|breast(1)|pancreas(1)	9						c.(2482-2484)CAG>CAC		calmodulin-binding transcription activator 1							38.0	48.0	44.0					1																	7725091		2187	4269	6456	SO:0001583	missense	23261				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	calmodulin binding	g.chr1:7725091G>C	AB020640	CCDS30576.1, CCDS55574.1, CCDS55575.1	1p36.31-p36.23	2008-07-18			ENSG00000171735	ENSG00000171735			18806	protein-coding gene	gene with protein product		611501				11925432	Standard	NM_001195563		Approved	KIAA0833	uc001aoi.3	Q9Y6Y1	OTTHUMG00000001212	ENST00000303635.7:c.2484G>C	1.37:g.7725091G>C	ENSP00000306522:p.Gln828His						p.Q828H	NM_015215	NP_056030	Q9Y6Y1	CMTA1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.101)|Colorectal(212;1.33e-05)|COAD - Colon adenocarcinoma(227;0.000235)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|Kidney(185;0.00244)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0179)|READ - Rectum adenocarcinoma(331;0.133)	9	2691	+	Ovarian(185;0.0634)	all_epithelial(116;8.38e-23)|all_lung(118;5.87e-07)|Lung NSC(185;3.43e-06)|Renal(390;0.000219)|Breast(487;0.000307)|Colorectal(325;0.000615)|Hepatocellular(190;0.0088)|Myeloproliferative disorder(586;0.0303)|Ovarian(437;0.0388)	828					A7MBM4|G3V3Z7|Q5VUE1|Q6V701|Q8WYI3|Q96S92	Missense_Mutation	SNP	ENST00000303635.7	37	c.2484G>C	CCDS30576.1	.	.	.	.	.	.	.	.	.	.	g	7.241	0.601309	0.13939	.	.	ENSG00000171735	ENST00000303635;ENST00000439411	T;T	0.21543	2.01;2.0	4.92	2.02	0.26589	.	0.154816	0.46758	D	0.000276	T	0.17746	0.0426	L	0.44542	1.39	0.31604	N	0.652314	P	0.51653	0.947	P	0.47744	0.556	T	0.13980	-1.0489	10	0.14656	T	0.56	-7.9087	6.0346	0.19699	0.5093:0.0:0.4907:0.0	.	828	Q9Y6Y1	CMTA1_HUMAN	H	828	ENSP00000306522:Q828H;ENSP00000402561:Q828H	ENSP00000306522:Q828H	Q	+	3	2	CAMTA1	7647678	0.982000	0.34865	0.964000	0.40570	0.060000	0.15804	1.505000	0.35736	0.505000	0.28104	-0.455000	0.05494	CAG		PASS	0.711	CAMTA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000003588.3	NM_015215		8	96	8	96	---	---	---	---
H6PD	9563	broad.mit.edu	37	1	9305264	9305264	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2756-01A-01D-1522-08	TCGA-66-2756-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	472c95e6-eccb-4988-be16-fdace73b2ed8	ff4f5936-f847-42ad-aedf-6a6a7fff6002	g.chr1:9305264G>T	ENST00000377403.2	+	2	573	c.271G>T	c.(271-273)Gca>Tca	p.A91S	H6PD_ENST00000602477.1_Missense_Mutation_p.A102S	NM_001282587.1|NM_004285.3	NP_001269516.1|NP_004276.2	O95479	G6PE_HUMAN	hexose-6-phosphate dehydrogenase (glucose 1-dehydrogenase)	91	Glucose 1-dehydrogenase.				pentose-phosphate shunt (GO:0006098)|response to alcohol (GO:0097305)	endoplasmic reticulum (GO:0005783)|mitochondrion (GO:0005739)	6-phosphogluconolactonase activity (GO:0017057)|carbohydrate binding (GO:0030246)|glucose 1-dehydrogenase [NAD(P)] activity (GO:0047936)|glucose-6-phosphate dehydrogenase activity (GO:0004345)|NADP binding (GO:0050661)	p.A91S(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)	23	all_lung(157;0.23)	all_epithelial(116;1.28e-19)|all_lung(118;5.22e-06)|Lung NSC(185;1.98e-05)|Renal(390;0.000147)|Breast(348;0.00109)|Colorectal(325;0.00205)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;1.88e-07)|COAD - Colon adenocarcinoma(227;7.47e-05)|Kidney(185;0.000244)|KIRC - Kidney renal clear cell carcinoma(229;0.000905)|STAD - Stomach adenocarcinoma(132;0.00176)|BRCA - Breast invasive adenocarcinoma(304;0.00183)|READ - Rectum adenocarcinoma(331;0.0419)		CAAGGACATGGCACCCAGTCA	0.577																																						uc001apt.2																			1	Substitution - Missense(1)		lung(1)		0						c.(271-273)GCA>TCA		hexose-6-phosphate dehydrogenase precursor	NADH(DB00157)						64.0	63.0	63.0					1																	9305264		2203	4300	6503	SO:0001583	missense	9563					endoplasmic reticulum lumen	6-phosphogluconolactonase activity|glucose 1-dehydrogenase|glucose-6-phosphate dehydrogenase activity|NADP binding	g.chr1:9305264G>T	AJ012590	CCDS101.1, CCDS72697.1	1p36	2008-02-05	2003-10-10		ENSG00000049239	ENSG00000049239	1.1.1.47		4795	protein-coding gene	gene with protein product		138090	"""glucose dehyrogenase"""	GDH		10349511	Standard	NM_001282587		Approved		uc001apt.3	O95479	OTTHUMG00000001768	ENST00000377403.2:c.271G>T	1.37:g.9305264G>T	ENSP00000366620:p.Ala91Ser						p.A91S	NM_004285	NP_004276	O95479	G6PE_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;1.88e-07)|COAD - Colon adenocarcinoma(227;7.47e-05)|Kidney(185;0.000244)|KIRC - Kidney renal clear cell carcinoma(229;0.000905)|STAD - Stomach adenocarcinoma(132;0.00176)|BRCA - Breast invasive adenocarcinoma(304;0.00183)|READ - Rectum adenocarcinoma(331;0.0419)	2	544	+	all_lung(157;0.23)	all_epithelial(116;1.28e-19)|all_lung(118;5.22e-06)|Lung NSC(185;1.98e-05)|Renal(390;0.000147)|Breast(348;0.00109)|Colorectal(325;0.00205)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)	91			Glucose 1-dehydrogenase.		Q4TT33|Q66I35|Q68DT3	Missense_Mutation	SNP	ENST00000377403.2	37	c.271G>T	CCDS101.1	.	.	.	.	.	.	.	.	.	.	G	0.013	-1.623862	0.00820	.	.	ENSG00000049239	ENST00000377403	D	0.98150	-4.75	5.31	2.24	0.28232	NAD(P)-binding domain (1);Glucose-6-phosphate dehydrogenase, NAD-binding (1);	0.696252	0.14421	N	0.320689	D	0.90570	0.7044	N	0.13198	0.31	0.09310	N	1	B	0.13594	0.008	B	0.10450	0.005	T	0.80542	-0.1336	10	0.07175	T	0.84	-1.9361	2.9143	0.05748	0.2156:0.1212:0.539:0.1242	.	91	O95479	G6PE_HUMAN	S	91	ENSP00000366620:A91S	ENSP00000366620:A91S	A	+	1	0	H6PD	9227851	0.000000	0.05858	0.001000	0.08648	0.367000	0.29736	-0.377000	0.07456	0.734000	0.32515	0.591000	0.81541	GCA		PASS	0.577	H6PD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000004928.2	NM_004285		13	49	13	49	---	---	---	---
CROCC	9696	broad.mit.edu	37	1	17264204	17264204	+	Missense_Mutation	SNP	A	A	C			TCGA-66-2756-01A-01D-1522-08	TCGA-66-2756-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	472c95e6-eccb-4988-be16-fdace73b2ed8	ff4f5936-f847-42ad-aedf-6a6a7fff6002	g.chr1:17264204A>C	ENST00000375541.5	+	10	1331	c.1262A>C	c.(1261-1263)aAg>aCg	p.K421T	CROCC_ENST00000467938.1_3'UTR	NM_014675.3	NP_055490.3			ciliary rootlet coiled-coil, rootletin									p.K421T(1)		breast(3)|central_nervous_system(2)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(1)|lung(20)|ovary(3)|prostate(9)|skin(3)|urinary_tract(1)	62		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000174)|all_lung(284;0.000234)|Renal(390;0.000518)|Ovarian(437;0.00669)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.63e-06)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(64;0.000163)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.181)		CAGGTCAACAAGGACCTCACT	0.582																																						uc001azt.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|breast(2)|central_nervous_system(1)	5						c.(1261-1263)AAG>ACG		ciliary rootlet coiled-coil							48.0	37.0	40.0					1																	17264204		2203	4300	6503	SO:0001583	missense	9696				cell cycle|cell projection organization|centrosome organization|protein localization	actin cytoskeleton|centriole|ciliary rootlet|plasma membrane	kinesin binding|structural molecule activity	g.chr1:17264204A>C	AB007914	CCDS30616.1	1p36.13	2010-06-04	2009-03-04	2009-03-04	ENSG00000058453	ENSG00000058453			21299	protein-coding gene	gene with protein product	"""rootletin, ciliary rootlet protein"""	615776				12427867, 17971504	Standard	XM_006711056		Approved	rootletin, ROLT	uc001azt.2	Q5TZA2	OTTHUMG00000002200	ENST00000375541.5:c.1262A>C	1.37:g.17264204A>C	ENSP00000364691:p.Lys421Thr					CROCC_uc009voy.1_Missense_Mutation_p.K124T|CROCC_uc009voz.1_Missense_Mutation_p.K184T|CROCC_uc001azu.2_5'Flank	p.K421T	NM_014675	NP_055490	Q5TZA2	CROCC_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.63e-06)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(64;0.000163)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.181)	10	1331	+		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000174)|all_lung(284;0.000234)|Renal(390;0.000518)|Ovarian(437;0.00669)|Myeloproliferative disorder(586;0.0255)	421			Potential.			Missense_Mutation	SNP	ENST00000375541.5	37	c.1262A>C	CCDS30616.1	.	.	.	.	.	.	.	.	.	.	A	10.28	1.307798	0.23821	.	.	ENSG00000058453	ENST00000375541;ENST00000445545	T	0.11277	2.79	4.64	1.07	0.20283	.	.	.	.	.	T	0.10078	0.0247	L	0.52573	1.65	0.24306	N	0.995104	B;B;B	0.33238	0.095;0.095;0.403	B;B;B	0.36289	0.069;0.069;0.221	T	0.35943	-0.9768	9	0.18276	T	0.48	.	6.5174	0.22256	0.6868:0.0:0.3132:0.0	.	284;284;421	A1L0S8;A1L0S9;Q5TZA2	.;.;CROCC_HUMAN	T	421;302	ENSP00000364691:K421T	ENSP00000364691:K421T	K	+	2	0	CROCC	17136791	1.000000	0.71417	0.999000	0.59377	0.950000	0.60333	1.091000	0.30915	0.266000	0.21894	0.459000	0.35465	AAG		PASS	0.582	CROCC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006249.2	NM_014675		7	57	7	57	---	---	---	---
PADI1	29943	broad.mit.edu	37	1	17531716	17531716	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2756-01A-01D-1522-08	TCGA-66-2756-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	472c95e6-eccb-4988-be16-fdace73b2ed8	ff4f5936-f847-42ad-aedf-6a6a7fff6002	g.chr1:17531716G>T	ENST00000375471.4	+	1	96	c.4G>T	c.(4-6)Gcc>Tcc	p.A2S		NM_013358.2	NP_037490.2	Q9ULC6	PADI1_HUMAN	peptidyl arginine deiminase, type I	2					protein citrullination (GO:0018101)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|protein-arginine deiminase activity (GO:0004668)	p.A2S(1)		haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(4)|skin(1)|stomach(1)|urinary_tract(1)	28		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.00054)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00522)|BRCA - Breast invasive adenocarcinoma(304;1.3e-05)|COAD - Colon adenocarcinoma(227;1.31e-05)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(196;0.0069)|READ - Rectum adenocarcinoma(331;0.0681)|Lung(427;0.197)	L-Citrulline(DB00155)	TGACAGGATGGCCCCAAAGAG	0.587																																					Esophageal Squamous(80;414 1257 4580 27746 50832)	uc001bah.1																			1	Substitution - Missense(1)		lung(1)		0						c.(4-6)GCC>TCC		peptidylarginine deiminase type I	L-Citrulline(DB00155)						157.0	120.0	132.0					1																	17531716		2203	4300	6503	SO:0001583	missense	29943				peptidyl-citrulline biosynthetic process from peptidyl-arginine	cytoplasm	calcium ion binding|protein-arginine deiminase activity	g.chr1:17531716G>T	AB033768	CCDS178.1	1p36.13	2008-07-18			ENSG00000142623	ENSG00000142623	3.5.3.15	"""Peptidyl arginine deiminases"""	18367	protein-coding gene	gene with protein product	"""peptidylarginine deiminase type I"", ""protein-arginine deiminase type-1"", ""hPAD-colony 10"""	607934				12416996	Standard	NM_013358		Approved	HPAD10, PDI1, PDI, PAD1	uc001bah.1	Q9ULC6	OTTHUMG00000002294	ENST00000375471.4:c.4G>T	1.37:g.17531716G>T	ENSP00000364620:p.Ala2Ser						p.A2S	NM_013358	NP_037490	Q9ULC6	PADI1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00522)|BRCA - Breast invasive adenocarcinoma(304;1.3e-05)|COAD - Colon adenocarcinoma(227;1.31e-05)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(196;0.0069)|READ - Rectum adenocarcinoma(331;0.0681)|Lung(427;0.197)	1	96	+		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.00054)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)	2					A1L4K6|Q70SX6	Missense_Mutation	SNP	ENST00000375471.4	37	c.4G>T	CCDS178.1	.	.	.	.	.	.	.	.	.	.	G	8.329	0.826135	0.16749	.	.	ENSG00000142623	ENST00000375471	T	0.09350	2.99	4.8	4.8	0.61643	Protein-arginine deiminase (PAD) N-terminal (1);	0.575699	0.14495	N	0.316128	T	0.09335	0.0230	L	0.34521	1.04	0.80722	D	1	P	0.35923	0.528	B	0.37601	0.254	T	0.09930	-1.0652	10	0.07644	T	0.81	-26.6551	13.3782	0.60752	0.0:0.0:1.0:0.0	.	2	Q9ULC6	PADI1_HUMAN	S	2	ENSP00000364620:A2S	ENSP00000364620:A2S	A	+	1	0	PADI1	17404303	1.000000	0.71417	0.999000	0.59377	0.647000	0.38526	4.252000	0.58785	2.210000	0.71456	0.563000	0.77884	GCC		PASS	0.587	PADI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006621.1	NM_013358		6	25	6	25	---	---	---	---
PAX7	5081	broad.mit.edu	37	1	19062357	19062357	+	Missense_Mutation	SNP	G	G	T	rs140323790	byFrequency	TCGA-66-2756-01A-01D-1522-08	TCGA-66-2756-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	472c95e6-eccb-4988-be16-fdace73b2ed8	ff4f5936-f847-42ad-aedf-6a6a7fff6002	g.chr1:19062357G>T	ENST00000375375.3	+	8	1985	c.1387G>T	c.(1387-1389)Ggc>Tgc	p.G463C	PAX7_ENST00000420770.2_Missense_Mutation_p.G463C|PAX7_ENST00000400661.3_Missense_Mutation_p.G461C	NM_002584.2|NM_013945.2	NP_002575.1|NP_039236.1	P23759	PAX7_HUMAN	paired box 7	463					anatomical structure morphogenesis (GO:0009653)|cartilage development (GO:0051216)|chromatin remodeling (GO:0006338)|dorsal/ventral neural tube patterning (GO:0021904)|embryonic skeletal system development (GO:0048706)|muscle tissue morphogenesis (GO:0060415)|negative regulation of apoptotic process (GO:0043066)|neuron fate commitment (GO:0048663)|positive regulation of histone methylation (GO:0031062)|positive regulation of myoblast proliferation (GO:2000288)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell fate commitment (GO:0010453)|regulation of protein binding (GO:0043393)|skeletal muscle satellite cell commitment (GO:0014813)|skeletal muscle tissue regeneration (GO:0043403)|spinal cord association neuron differentiation (GO:0021527)	nucleus (GO:0005634)	RNA polymerase II core promoter sequence-specific DNA binding transcription factor activity (GO:0000983)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.G463C(2)	PAX7/FOXO1(197)	breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(17)|ovary(1)|prostate(1)|skin(2)	31		Colorectal(325;3.46e-05)|all_lung(284;0.000439)|Renal(390;0.000518)|Lung NSC(340;0.000543)|Breast(348;0.00093)|Ovarian(437;0.00768)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00609)|BRCA - Breast invasive adenocarcinoma(304;4.71e-05)|Kidney(64;0.000279)|KIRC - Kidney renal clear cell carcinoma(64;0.00371)|STAD - Stomach adenocarcinoma(196;0.00658)|READ - Rectum adenocarcinoma(331;0.0576)		CTATCAGTACGGCCAGTACGG	0.652			T	FOXO1A	alveolar rhabdomyosarcoma																																	uc001bay.2				Dom	yes		1	1p36.2-p36.12	5081	T	paired box gene 7			M	FOXO1A		alveolar rhabdomyosarcoma	PAX7/FOXO1(197)	2	Substitution - Missense(2)		lung(2)	soft_tissue(197)|lung(3)|prostate(1)|ovary(1)|breast(1)	203						c.(1387-1389)GGC>TGC		paired box 7 isoform 1							62.0	60.0	61.0					1																	19062357		2203	4300	6503	SO:0001583	missense	5081				anti-apoptosis	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr1:19062357G>T	X96743	CCDS186.1, CCDS44074.1, CCDS44075.1	1p36.13	2011-06-20	2007-07-12		ENSG00000009709	ENSG00000009709		"""Paired boxes"", ""Homeoboxes / PRD class"""	8621	protein-coding gene	gene with protein product		167410	"""paired box gene 7"""			7981748, 8431641	Standard	NM_001135254		Approved	Hup1	uc001bay.3	P23759	OTTHUMG00000002433	ENST00000375375.3:c.1387G>T	1.37:g.19062357G>T	ENSP00000364524:p.Gly463Cys					PAX7_uc001baz.2_Missense_Mutation_p.G461C|PAX7_uc010oct.1_Missense_Mutation_p.G463C	p.G463C	NM_002584	NP_002575	P23759	PAX7_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00609)|BRCA - Breast invasive adenocarcinoma(304;4.71e-05)|Kidney(64;0.000279)|KIRC - Kidney renal clear cell carcinoma(64;0.00371)|STAD - Stomach adenocarcinoma(196;0.00658)|READ - Rectum adenocarcinoma(331;0.0576)	8	1985	+		Colorectal(325;3.46e-05)|all_lung(284;0.000439)|Renal(390;0.000518)|Lung NSC(340;0.000543)|Breast(348;0.00093)|Ovarian(437;0.00768)|Myeloproliferative disorder(586;0.0255)	463					E9PFV9|Q0VA99|Q2PJS5	Missense_Mutation	SNP	ENST00000375375.3	37	c.1387G>T	CCDS186.1	.	.	.	.	.	.	.	.	.	.	G	17.26	3.345439	0.61073	.	.	ENSG00000009709	ENST00000375375;ENST00000420770;ENST00000400661	D;D;D	0.95690	-3.78;-3.73;-3.78	4.84	2.93	0.34026	.	0.159558	0.56097	D	0.000036	D	0.95095	0.8411	L	0.34521	1.04	0.43953	D	0.996622	D;D;D	0.89917	0.995;1.0;0.999	P;D;D	0.70016	0.84;0.967;0.941	D	0.93908	0.7194	10	0.72032	D	0.01	.	9.6069	0.39639	0.1769:0.0:0.8231:0.0	.	463;461;463	E9PFV9;P23759-2;P23759	.;.;PAX7_HUMAN	C	463;463;461	ENSP00000364524:G463C;ENSP00000403389:G463C;ENSP00000383502:G461C	ENSP00000364524:G463C	G	+	1	0	PAX7	18934944	1.000000	0.71417	1.000000	0.80357	0.846000	0.48090	6.046000	0.71029	0.547000	0.28938	-0.291000	0.09656	GGC		PASS	0.652	PAX7-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000006928.1	NM_002584		13	36	13	36	---	---	---	---
C1QB	713	broad.mit.edu	37	1	22987627	22987627	+	Silent	SNP	C	C	T			TCGA-66-2756-01A-01D-1522-08	TCGA-66-2756-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	472c95e6-eccb-4988-be16-fdace73b2ed8	ff4f5936-f847-42ad-aedf-6a6a7fff6002	g.chr1:22987627C>T	ENST00000314933.6	+	3	642	c.510C>T	c.(508-510)ttC>ttT	p.F170F	C1QB_ENST00000509305.1_Silent_p.F168F	NM_000491.3	NP_000482.3	P02746	C1QB_HUMAN	complement component 1, q subcomponent, B chain	170	C1q. {ECO:0000255|PROSITE- ProRule:PRU00368}.				complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|innate immune response (GO:0045087)|inner ear development (GO:0048839)	blood microparticle (GO:0072562)|collagen trimer (GO:0005581)|complement component C1 complex (GO:0005602)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)		p.F170F(1)		breast(1)|endometrium(2)|large_intestine(1)|lung(9)|prostate(1)	14		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00262)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;7.06e-27)|Colorectal(126;1.58e-07)|GBM - Glioblastoma multiforme(114;6.72e-06)|COAD - Colon adenocarcinoma(152;1.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000551)|KIRC - Kidney renal clear cell carcinoma(1967;0.0027)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.198)	Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	TCTACTACTTCACCTACCACG	0.562																																						uc001bgd.2																			1	Substitution - coding silent(1)		lung(1)	breast(1)	1						c.(508-510)TTC>TTT		complement component 1, q subcomponent, B chain	Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)						92.0	82.0	85.0					1																	22987627		2203	4300	6503	SO:0001819	synonymous_variant	713				complement activation, classical pathway|innate immune response	collagen|complement component C1 complex		g.chr1:22987627C>T	X03084	CCDS228.1	1p36.3-p34.1	2014-09-17	2006-02-09		ENSG00000173369	ENSG00000173369		"""Complement system"""	1242	protein-coding gene	gene with protein product		120570	"""complement component 1, q subcomponent, beta polypeptide"""			1537612	Standard	XM_005245982		Approved		uc001bgd.3	P02746	OTTHUMG00000002896	ENST00000314933.6:c.510C>T	1.37:g.22987627C>T							p.F170F	NM_000491	NP_000482	P02746	C1QB_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;7.06e-27)|Colorectal(126;1.58e-07)|GBM - Glioblastoma multiforme(114;6.72e-06)|COAD - Colon adenocarcinoma(152;1.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000551)|KIRC - Kidney renal clear cell carcinoma(1967;0.0027)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.198)	3	642	+		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00262)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)	170			C1q.		Q5T959|Q96H17	Silent	SNP	ENST00000314933.6	37	c.510C>T	CCDS228.1																																																																																				PASS	0.562	C1QB-201	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_000491		11	39	11	39	---	---	---	---
ARID1A	8289	broad.mit.edu	37	1	27106961	27106961	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2756-01A-01D-1522-08	TCGA-66-2756-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	472c95e6-eccb-4988-be16-fdace73b2ed8	ff4f5936-f847-42ad-aedf-6a6a7fff6002	g.chr1:27106961G>T	ENST00000324856.7	+	20	6943	c.6572G>T	c.(6571-6573)aGt>aTt	p.S2191I	ARID1A_ENST00000540690.1_Missense_Mutation_p.S519I|ARID1A_ENST00000374152.2_Missense_Mutation_p.S1808I|ARID1A_ENST00000457599.2_Missense_Mutation_p.S1974I	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)	2191					androgen receptor signaling pathway (GO:0030521)|ATP-dependent chromatin remodeling (GO:0043044)|cardiac chamber development (GO:0003205)|chromatin remodeling (GO:0006338)|chromatin-mediated maintenance of transcription (GO:0048096)|forebrain development (GO:0030900)|glucocorticoid receptor signaling pathway (GO:0042921)|intracellular estrogen receptor signaling pathway (GO:0030520)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural tube closure (GO:0001843)|nucleosome disassembly (GO:0006337)|nucleosome mobilization (GO:0042766)|optic cup formation involved in camera-type eye development (GO:0003408)|placenta blood vessel development (GO:0060674)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|SWI/SNF complex (GO:0016514)	DNA binding (GO:0003677)|ligand-dependent nuclear receptor binding (GO:0016922)|transcription coactivator activity (GO:0003713)	p.S2191_G2193delSIG(1)|p.S2191I(1)	ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		CAGAAGGGCAGTATCGGCAAC	0.627			"""Mis, N, F, S, D"""		"""clear cell ovarian carcinoma, RCC"""																																	uc001bmv.1				Rec	yes		1	1p35.3	8289	Mis|N|F|S|D	AT rich interactive domain 1A (SWI-like)			E			clear cell ovarian carcinoma|RCC		2	Substitution - Missense(1)|Deletion - In frame(1)		lung(1)|liver(1)	ovary(124)|pancreas(5)|central_nervous_system(3)|endometrium(3)|kidney(3)|skin(2)|upper_aerodigestive_tract(1)|lung(1)	142						c.(6571-6573)AGT>ATT		AT rich interactive domain 1A isoform a							79.0	74.0	76.0					1																	27106961		2203	4300	6503	SO:0001583	missense	8289				androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	nBAF complex|npBAF complex|SWI/SNF complex	DNA binding|protein binding	g.chr1:27106961G>T	AB001895	CCDS285.1, CCDS44091.1	1p36.1-p35	2014-09-17	2006-11-08	2004-01-30	ENSG00000117713	ENSG00000117713		"""-"""	11110	protein-coding gene	gene with protein product		603024	"""SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily f, member 1"", ""AT rich interactive domain 1A (SWI- like)"""	C1orf4, SMARCF1		9630625, 9434167	Standard	NM_139135		Approved	B120, P270, C10rf4, BAF250, BAF250a	uc001bmv.1	O14497	OTTHUMG00000004004	ENST00000324856.7:c.6572G>T	1.37:g.27106961G>T	ENSP00000320485:p.Ser2191Ile					ARID1A_uc001bmu.1_Missense_Mutation_p.S1974I|ARID1A_uc001bmx.1_Missense_Mutation_p.S1037I|ARID1A_uc009vsm.1_Missense_Mutation_p.S519I|ARID1A_uc009vsn.1_Missense_Mutation_p.S433I	p.S2191I	NM_006015	NP_006006	O14497	ARI1A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)	20	6945	+		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)	2191					D3DPL1|Q53FK9|Q5T0W1|Q5T0W2|Q5T0W3|Q8NFD6|Q96T89|Q9BY33|Q9HBJ5|Q9UPZ1	Missense_Mutation	SNP	ENST00000324856.7	37	c.6572G>T	CCDS285.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	16.51|16.51	3.143087|3.143087	0.57044|0.57044	.|.	.|.	ENSG00000117713|ENSG00000117713	ENST00000430799|ENST00000324856;ENST00000457599;ENST00000374152;ENST00000540690	.|T;T;T;T	.|0.35048	.|1.33;1.33;1.33;1.33	5.01|5.01	5.01|5.01	0.66863|0.66863	.|Armadillo-like helical (1);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.61022|0.61022	0.2314|0.2314	M|M	0.70595|0.70595	2.14|2.14	0.58432|0.58432	D|D	0.999995|0.999995	.|D;D;D	.|0.76494	.|0.999;0.999;0.999	.|D;D;D	.|0.87578	.|0.996;0.998;0.996	T|T	0.59920|0.59920	-0.7363|-0.7363	5|10	.|0.46703	.|T	.|0.11	-10.5515|-10.5515	18.8522|18.8522	0.92237|0.92237	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|1808;2191;1974	.|O14497-3;O14497;O14497-2	.|.;ARI1A_HUMAN;.	H|I	1087|2191;1974;1808;519	.|ENSP00000320485:S2191I;ENSP00000387636:S1974I;ENSP00000363267:S1808I;ENSP00000442437:S519I	.|ENSP00000320485:S2191I	Q|S	+|+	3|2	2|0	ARID1A|ARID1A	26979548|26979548	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.989000|0.989000	0.77384|0.77384	8.958000|8.958000	0.93099|0.93099	2.771000|2.771000	0.95319|0.95319	0.591000|0.591000	0.81541|0.81541	CAG|AGT		PASS	0.627	ARID1A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000011437.2	NM_139135		48	38	48	38	---	---	---	---
PTPRU	10076	broad.mit.edu	37	1	29587223	29587223	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2756-01A-01D-1522-08	TCGA-66-2756-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	472c95e6-eccb-4988-be16-fdace73b2ed8	ff4f5936-f847-42ad-aedf-6a6a7fff6002	g.chr1:29587223G>T	ENST00000345512.3	+	7	1081	c.952G>T	c.(952-954)Gtg>Ttg	p.V318L	PTPRU_ENST00000323874.8_Missense_Mutation_p.V318L|PTPRU_ENST00000356870.3_Missense_Mutation_p.V318L|PTPRU_ENST00000460170.2_Missense_Mutation_p.V318L|PTPRU_ENST00000428026.2_Missense_Mutation_p.V318L|PTPRU_ENST00000373779.3_Missense_Mutation_p.V318L	NM_005704.4	NP_005695.3	Q92729	PTPRU_HUMAN	protein tyrosine phosphatase, receptor type, U	318	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				canonical Wnt signaling pathway (GO:0060070)|cell adhesion (GO:0007155)|cell differentiation (GO:0030154)|homotypic cell-cell adhesion (GO:0034109)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|organ regeneration (GO:0031100)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|protein localization to cell surface (GO:0034394)|response to glucocorticoid (GO:0051384)|single organismal cell-cell adhesion (GO:0016337)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	cell-cell junction (GO:0005911)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	beta-catenin binding (GO:0008013)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)	p.V318L(3)		breast(4)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(26)|ovary(1)|prostate(3)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	79		Colorectal(325;0.000399)|Lung NSC(340;0.00953)|all_lung(284;0.0112)|Breast(348;0.0126)|all_neural(195;0.0199)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123)		Colorectal(126;6.99e-07)|COAD - Colon adenocarcinoma(152;3.18e-05)|STAD - Stomach adenocarcinoma(196;0.0234)|READ - Rectum adenocarcinoma(331;0.0686)|BRCA - Breast invasive adenocarcinoma(304;0.0871)		CGGGCCGATCGTGCGCAAGGA	0.662																																						uc001bru.2																			3	Substitution - Missense(3)		lung(3)	large_intestine(3)|ovary(1)|kidney(1)|central_nervous_system(1)|skin(1)	7						c.(952-954)GTG>TTG		protein tyrosine phosphatase, receptor type, U							73.0	70.0	71.0					1																	29587223		2203	4300	6503	SO:0001583	missense	10076				canonical Wnt receptor signaling pathway|cell differentiation|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|protein localization at cell surface|transmembrane receptor protein tyrosine phosphatase signaling pathway	cell-cell junction|integral to plasma membrane	beta-catenin binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr1:29587223G>T	U71075	CCDS334.1, CCDS335.1, CCDS44098.1, CCDS44098.2, CCDS53290.1	1p35.3	2013-02-11			ENSG00000060656	ENSG00000060656		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9683	protein-coding gene	gene with protein product	"""pi R-PTP-Psi"""	602454				8700514, 9434160	Standard	NM_133178		Approved	PTPRO, hPTP-J, PCP-2, FMI, PTP	uc001bru.3	Q92729	OTTHUMG00000003699	ENST00000345512.3:c.952G>T	1.37:g.29587223G>T	ENSP00000334941:p.Val318Leu					PTPRU_uc001brv.2_Missense_Mutation_p.V318L|PTPRU_uc001brw.2_Missense_Mutation_p.V318L|PTPRU_uc009vtq.2_Missense_Mutation_p.V318L|PTPRU_uc009vtr.2_Missense_Mutation_p.V318L	p.V318L	NM_005704	NP_005695	Q92729	PTPRU_HUMAN		Colorectal(126;6.99e-07)|COAD - Colon adenocarcinoma(152;3.18e-05)|STAD - Stomach adenocarcinoma(196;0.0234)|READ - Rectum adenocarcinoma(331;0.0686)|BRCA - Breast invasive adenocarcinoma(304;0.0871)	7	1062	+		Colorectal(325;0.000399)|Lung NSC(340;0.00953)|all_lung(284;0.0112)|Breast(348;0.0126)|all_neural(195;0.0199)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123)	318			Fibronectin type-III 1.|Extracellular (Potential).		A6H8L1|O00197|P78399|Q59HA4|Q5SYU4|Q5SYU5|Q92735|Q92850	Missense_Mutation	SNP	ENST00000345512.3	37	c.952G>T	CCDS334.1	.	.	.	.	.	.	.	.	.	.	G	17.82	3.483629	0.63962	.	.	ENSG00000060656	ENST00000345512;ENST00000373779;ENST00000356870;ENST00000323874;ENST00000428026;ENST00000460170	T;T;T;T;T;T	0.56444	0.46;0.46;0.46;0.46;0.46;0.46	5.22	5.22	0.72569	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.080681	0.50627	D	0.000102	T	0.47911	0.1471	L	0.47716	1.5	0.49389	D	0.999785	B;B;B;B;B	0.12630	0.005;0.005;0.005;0.006;0.006	B;B;B;B;B	0.14578	0.006;0.006;0.006;0.011;0.011	T	0.37430	-0.9706	9	.	.	.	.	17.7715	0.88494	0.0:0.0:1.0:0.0	.	318;318;318;318;318	Q92729-3;Q92729-4;Q92729-2;E9PH42;Q92729	.;.;.;.;PTPRU_HUMAN	L	318	ENSP00000334941:V318L;ENSP00000362884:V318L;ENSP00000349333:V318L;ENSP00000314987:V318L;ENSP00000392332:V318L;ENSP00000432906:V318L	.	V	+	1	0	PTPRU	29459810	1.000000	0.71417	1.000000	0.80357	0.889000	0.51656	5.357000	0.66058	2.418000	0.82041	0.462000	0.41574	GTG		PASS	0.662	PTPRU-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000010447.1			15	53	15	53	---	---	---	---
DCDC2B	149069	broad.mit.edu	37	1	32674705	32674705	+	Missense_Mutation	SNP	G	G	A			TCGA-66-2756-01A-01D-1522-08	TCGA-66-2756-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	472c95e6-eccb-4988-be16-fdace73b2ed8	ff4f5936-f847-42ad-aedf-6a6a7fff6002	g.chr1:32674705G>A	ENST00000409358.1	+	1	11	c.11G>A	c.(10-12)gGc>gAc	p.G4D	RP4-622L5.7_ENST00000373604.4_RNA|RP4-622L5.7_ENST00000421616.1_RNA	NM_001099434.1	NP_001092904.1	A2VCK2	DCD2B_HUMAN	doublecortin domain containing 2B	4					intracellular signal transduction (GO:0035556)			p.G4D(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)				ATGGCAGGTGGCAGTCCAGCA	0.587																																						uc001bun.2																			1	Substitution - Missense(1)		lung(1)		0						c.(10-12)GGC>GAC		doublecortin domain containing 2B							47.0	55.0	52.0					1																	32674705		2067	4211	6278	SO:0001583	missense	149069				intracellular signal transduction			g.chr1:32674705G>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.11G>A	1.37:g.32674705G>A	ENSP00000386870:p.Gly4Asp						p.G4D	NM_001099434	NP_001092904	A2VCK2	DCD2B_HUMAN			1	11	+		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.174)	4					B7ZBC6	Missense_Mutation	SNP	ENST00000409358.1	37	c.11G>A	CCDS44100.1	.	.	.	.	.	.	.	.	.	.	G	11.38	1.620955	0.28889	.	.	ENSG00000222046	ENST00000409358	T	0.34859	1.34	3.75	1.77	0.24775	Doublecortin domain (1);	.	.	.	.	T	0.25419	0.0618	L	0.51422	1.61	0.09310	N	1	P	0.37525	0.598	B	0.31614	0.133	T	0.09930	-1.0652	9	0.20046	T	0.44	-3.0338	7.1472	0.25589	0.1013:0.3326:0.5661:0.0	.	4	A2VCK2	DCD2B_HUMAN	D	4	ENSP00000386870:G4D	ENSP00000386870:G4D	G	+	2	0	DCDC2B	32447292	0.111000	0.22076	0.009000	0.14445	0.051000	0.14879	2.345000	0.44018	0.882000	0.36016	0.313000	0.20887	GGC		PASS	0.587	DCDC2B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328293.1	XM_940631		13	42	13	42	---	---	---	---
FAM167B	84734	broad.mit.edu	37	1	32713219	32713219	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2756-01A-01D-1522-08	TCGA-66-2756-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	472c95e6-eccb-4988-be16-fdace73b2ed8	ff4f5936-f847-42ad-aedf-6a6a7fff6002	g.chr1:32713219G>T	ENST00000373582.3	+	1	386	c.197G>T	c.(196-198)gGa>gTa	p.G66V		NM_032648.2	NP_116037.2	Q9BTA0	F167B_HUMAN	family with sequence similarity 167, member B	66								p.G66V(1)		endometrium(1)|large_intestine(1)|lung(1)|ovary(2)	5						GGACCAGGGGGACCTGGGGAC	0.657																																						uc001buw.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(196-198)GGA>GTA		hypothetical protein LOC84734							46.0	55.0	53.0					1																	32713219		1949	4144	6093	SO:0001583	missense	84734							g.chr1:32713219G>T	BC004269	CCDS358.2	1p35.1	2010-08-27	2008-06-11	2008-06-11	ENSG00000183615	ENSG00000183615			28133	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 90"""	C1orf90		12477932	Standard	NM_032648		Approved	MGC10820	uc001buw.3	Q9BTA0	OTTHUMG00000007462	ENST00000373582.3:c.197G>T	1.37:g.32713219G>T	ENSP00000362684:p.Gly66Val						p.G66V	NM_032648	NP_116037	Q9BTA0	F167B_HUMAN			1	402	+			66					Q5TDH6	Missense_Mutation	SNP	ENST00000373582.3	37	c.197G>T	CCDS358.2	.	.	.	.	.	.	.	.	.	.	g	4.159	0.027986	0.08054	.	.	ENSG00000183615	ENST00000373582	T	0.60040	0.22	5.32	-3.09	0.05331	.	0.390655	0.18728	U	0.132802	T	0.33556	0.0867	N	0.19112	0.55	0.20489	N	0.999898	B	0.24092	0.097	B	0.26770	0.073	T	0.17561	-1.0365	10	0.28530	T	0.3	-28.5125	6.7084	0.23264	0.328:0.332:0.34:0.0	.	66	Q9BTA0	F167B_HUMAN	V	66	ENSP00000362684:G66V	ENSP00000362684:G66V	G	+	2	0	FAM167B	32485806	0.000000	0.05858	0.000000	0.03702	0.119000	0.20118	0.242000	0.18087	-0.169000	0.10834	-0.305000	0.09177	GGA		PASS	0.657	FAM167B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019615.2	NM_032648		33	65	33	65	---	---	---	---
MACF1	23499	broad.mit.edu	37	1	39924766	39924766	+	Missense_Mutation	SNP	C	C	G	rs374419950		TCGA-66-2756-01A-01D-1522-08	TCGA-66-2756-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	472c95e6-eccb-4988-be16-fdace73b2ed8	ff4f5936-f847-42ad-aedf-6a6a7fff6002	g.chr1:39924766C>G	ENST00000372915.3	+	90	20989	c.20902C>G	c.(20902-20904)Cta>Gta	p.L6968V	MACF1_ENST00000564288.1_Missense_Mutation_p.L7069V|MACF1_ENST00000361689.2_Missense_Mutation_p.L5010V|MACF1_ENST00000567887.1_Missense_Mutation_p.L7106V|MACF1_ENST00000317713.7_Missense_Mutation_p.L5010V|MACF1_ENST00000545844.1_Missense_Mutation_p.L5010V|MACF1_ENST00000539005.1_Missense_Mutation_p.L4880V|MACF1_ENST00000289893.4_Missense_Mutation_p.L5512V			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	6968					ATP catabolic process (GO:0006200)|cell cycle arrest (GO:0007050)|Golgi to plasma membrane protein transport (GO:0043001)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of epithelial cell migration (GO:0010632)|regulation of focal adhesion assembly (GO:0051893)|regulation of microtubule-based process (GO:0032886)|Wnt signaling pathway (GO:0016055)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|poly(A) RNA binding (GO:0044822)	p.L5010V(1)|p.L5512V(1)		breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			AGGGAAATCCCTAAGTCAGCC	0.423																																						uc010oiu.1																			2	Substitution - Missense(2)		lung(2)	ovary(8)|breast(3)|central_nervous_system(3)|skin(2)	16						c.(16534-16536)CTA>GTA		microfilament and actin filament cross-linker		C	VAL/LEU,VAL/LEU	1,4405	2.1+/-5.4	0,1,2202	91.0	93.0	93.0		16534,15028	1.1	0.9	1		93	0,8600		0,0,4300	no	missense,missense	MACF1	NM_033044.3,NM_012090.4	32,32	0,1,6502	GG,GC,CC		0.0,0.0227,0.0077	benign,benign	5512/5939,5010/5431	39924766	1,13005	2203	4300	6503	SO:0001583	missense	23499				cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding	g.chr1:39924766C>G	AB007934	CCDS435.1	1p32-p31	2013-01-10			ENSG00000127603	ENSG00000127603		"""EF-hand domain containing"""	13664	protein-coding gene	gene with protein product	"""actin cross-linking factor"", ""620 kDa actin binding protein"", ""macrophin 1"", ""trabeculin-alpha"", ""actin cross-linking family protein 7"""	608271				7635207, 10529403	Standard	NM_012090		Approved	KIAA0465, ACF7, ABP620, KIAA1251, MACF, FLJ45612, FLJ46776	uc031pmc.1	Q9UPN3	OTTHUMG00000007754	ENST00000372915.3:c.20902C>G	1.37:g.39924766C>G	ENSP00000362006:p.Leu6968Val					MACF1_uc010ois.1_Missense_Mutation_p.L5010V|MACF1_uc001cde.1_5'Flank|MACF1_uc001cdf.1_5'Flank	p.L5512V	NM_033044	NP_149033	Q9UPN3	MACF1_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)		56	16665	+	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	6968					B1ALC5|E9PJT0|O75053|Q5VW20|Q8WXY1|Q8WXY2|Q96PK2|Q9H540|Q9UKP0|Q9ULG9	Missense_Mutation	SNP	ENST00000372915.3	37	c.16534C>G		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	5.956|5.956	0.360397|0.360397	0.11296|0.11296	2.27E-4|2.27E-4	0.0|0.0	ENSG00000127603|ENSG00000127603	ENST00000545844;ENST00000372915;ENST00000361689;ENST00000317713;ENST00000539005;ENST00000289893|ENST00000372925	T;T;T;T;T;T|.	0.63255|.	0.01;0.05;0.01;-0.03;0.16;1.16|.	5.98|5.98	1.14|1.14	0.20703|0.20703	.|.	0.000000|.	0.49305|.	D|.	0.000141|.	T|T	0.38983|0.38983	0.1061|0.1061	N|N	0.19112|0.19112	0.55|0.55	0.43642|0.43642	D|D	0.996044|0.996044	P;P|.	0.46859|.	0.885;0.73|.	P;B|.	0.46510|.	0.519;0.312|.	T|T	0.05989|0.05989	-1.0852|-1.0852	9|5	.|.	.|.	.|.	.|.	10.0278|10.0278	0.42081|0.42081	0.0:0.3237:0.0:0.6763|0.0:0.3237:0.0:0.6763	.|.	6968;5010|.	Q9UPN3;F8W8Q1|.	MACF1_HUMAN;.|.	V|R	5010;6968;5010;5010;4880;5512|4013	ENSP00000439537:L5010V;ENSP00000362006:L6968V;ENSP00000354573:L5010V;ENSP00000313438:L5010V;ENSP00000444364:L4880V;ENSP00000289893:L5512V|.	.|.	L|P	+|+	1|2	2|0	MACF1|MACF1	39697353|39697353	0.004000|0.004000	0.15560|0.15560	0.938000|0.938000	0.37757|0.37757	0.051000|0.051000	0.14879|0.14879	0.166000|0.166000	0.16583|0.16583	-0.042000|-0.042000	0.13535|0.13535	-1.076000|-1.076000	0.02234|0.02234	CTA|CCT		PASS	0.423	MACF1-028	NOVEL	not_organism_supported|basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000392096.1	NM_033044		23	131	23	131	---	---	---	---
PRKAA2	5563	broad.mit.edu	37	1	57157066	57157066	+	Splice_Site	SNP	G	G	A			TCGA-66-2756-01A-01D-1522-08	TCGA-66-2756-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	472c95e6-eccb-4988-be16-fdace73b2ed8	ff4f5936-f847-42ad-aedf-6a6a7fff6002	g.chr1:57157066G>A	ENST00000371244.4	+	3	302		c.e3-1			NM_006252.3	NP_006243.2	P54646	AAPK2_HUMAN	protein kinase, AMP-activated, alpha 2 catalytic subunit						autophagy (GO:0006914)|carnitine shuttle (GO:0006853)|cell cycle arrest (GO:0007050)|cellular lipid metabolic process (GO:0044255)|cellular response to glucose starvation (GO:0042149)|cellular response to nutrient levels (GO:0031669)|cholesterol biosynthetic process (GO:0006695)|energy reserve metabolic process (GO:0006112)|fatty acid biosynthetic process (GO:0006633)|fatty acid homeostasis (GO:0055089)|glucose homeostasis (GO:0042593)|insulin receptor signaling pathway (GO:0008286)|lipid biosynthetic process (GO:0008610)|membrane organization (GO:0061024)|negative regulation of apoptotic process (GO:0043066)|negative regulation of TOR signaling (GO:0032007)|positive regulation of autophagy (GO:0010508)|positive regulation of glycolytic process (GO:0045821)|protein phosphorylation (GO:0006468)|regulation of circadian rhythm (GO:0042752)|regulation of energy homeostasis (GO:2000505)|regulation of fatty acid biosynthetic process (GO:0042304)|regulation of transcription, DNA-templated (GO:0006355)|response to stress (GO:0006950)|rhythmic process (GO:0048511)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)	[acetyl-CoA carboxylase] kinase activity (GO:0050405)|[hydroxymethylglutaryl-CoA reductase (NADPH)] kinase activity (GO:0047322)|AMP-activated protein kinase activity (GO:0004679)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|histone serine kinase activity (GO:0035174)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)	p.?(2)		breast(6)|endometrium(1)|large_intestine(6)|lung(7)|ovary(1)|prostate(1)|stomach(1)	23					Acetylsalicylic acid(DB00945)	TAACAAAAAAGATACCAGGTG	0.303																																						uc001cyk.3																			2	Unknown(2)		lung(2)	breast(4)|ovary(1)|stomach(1)	6						c.e3-1		AMP-activated protein kinase alpha 2 catalytic							68.0	72.0	71.0					1																	57157066		2203	4299	6502	SO:0001630	splice_region_variant	5563				carnitine shuttle|cell cycle arrest|cholesterol biosynthetic process|energy reserve metabolic process|fatty acid biosynthetic process|insulin receptor signaling pathway|regulation of fatty acid biosynthetic process|regulation of fatty acid oxidation	cytosol|nucleoplasm	ATP binding|metal ion binding	g.chr1:57157066G>A	BC069823	CCDS605.1	1p31	2011-08-25			ENSG00000162409	ENSG00000162409			9377	protein-coding gene	gene with protein product		600497		PRKAA		7959015	Standard	NM_006252		Approved	AMPK, AMPKa2	uc001cyk.4	P54646	OTTHUMG00000008282	ENST00000371244.4:c.237-1G>A	1.37:g.57157066G>A							p.L79_splice	NM_006252	NP_006243	P54646	AAPK2_HUMAN			3	308	+								Q9H1E8|Q9UD43	Splice_Site	SNP	ENST00000371244.4	37	c.237_splice	CCDS605.1	.	.	.	.	.	.	.	.	.	.	G	16.94	3.260331	0.59431	.	.	ENSG00000162409	ENST00000371244	.	.	.	4.5	3.58	0.41010	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.9447	0.64077	0.0:0.0:0.8471:0.1529	.	.	.	.	.	-1	.	.	.	+	.	.	PRKAA2	56929654	1.000000	0.71417	0.940000	0.37924	0.844000	0.47949	9.125000	0.94402	1.089000	0.41292	0.467000	0.42956	.		PASS	0.303	PRKAA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022753.2	NM_006252	Intron	19	65	19	65	---	---	---	---
DAB1	1600	broad.mit.edu	37	1	57476449	57476449	+	Silent	SNP	C	C	T			TCGA-66-2756-01A-01D-1522-08	TCGA-66-2756-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	472c95e6-eccb-4988-be16-fdace73b2ed8	ff4f5936-f847-42ad-aedf-6a6a7fff6002	g.chr1:57476449C>T	ENST00000371231.1	-	15	1720	c.1686G>A	c.(1684-1686)caG>caA	p.Q562Q	DAB1_ENST00000485760.1_5'UTR|DAB1_ENST00000439789.2_Silent_p.Q443Q|DAB1_ENST00000420954.2_Silent_p.Q527Q|DAB1_ENST00000371234.4_Silent_p.Q529Q|DAB1_ENST00000414851.2_Silent_p.Q511Q|DAB1_ENST00000371236.2_Silent_p.Q529Q			O75553	DAB1_HUMAN	Dab, reelin signal transducer, homolog 1 (Drosophila)	562					adult walking behavior (GO:0007628)|cell-cell adhesion involved in neuronal-glial interactions involved in cerebral cortex radial glia guided migration (GO:0021813)|cerebellum structural organization (GO:0021589)|dendrite development (GO:0016358)|Golgi localization (GO:0051645)|lateral motor column neuron migration (GO:0097477)|midgut development (GO:0007494)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of axonogenesis (GO:0050771)|negative regulation of cell adhesion (GO:0007162)|negative regulation of JAK-STAT cascade (GO:0046426)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of protein kinase activity (GO:0045860)|radial glia guided migration of Purkinje cell (GO:0021942)|response to drug (GO:0042493)|small GTPase mediated signal transduction (GO:0007264)|ventral spinal cord development (GO:0021517)	apical part of cell (GO:0045177)|brush border (GO:0005903)|cytosol (GO:0005829)|membrane (GO:0016020)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|postsynaptic density (GO:0014069)		p.Q529H(1)|p.Q529Q(1)		central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(28)|ovary(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(5)	64						TGGATGAGGCCTGTGATCCAT	0.443																																						uc001cys.1																			2	Substitution - Missense(1)|Substitution - coding silent(1)		large_intestine(1)|lung(1)	skin(2)|ovary(1)	3						c.(1585-1587)CAG>CAA		disabled homolog 1							93.0	91.0	92.0					1																	57476449		2203	4300	6503	SO:0001819	synonymous_variant	1600				cell differentiation|nervous system development			g.chr1:57476449C>T	BC067445	CCDS607.1	1p32-p31	2013-10-03	2013-10-03		ENSG00000173406	ENSG00000173406			2661	protein-coding gene	gene with protein product		603448	"""disabled (Drosophila) homolog 1"", ""disabled homolog 1 (Drosophila)"", ""Dab, reelin signal transducer, homolog 1 (Drosophila)"", ""Dab reelin signal transducer 1"""			9790777	Standard	NM_021080		Approved		uc001cys.1	O75553	OTTHUMG00000008391	ENST00000371231.1:c.1686G>A	1.37:g.57476449C>T						DAB1_uc001cyt.1_Silent_p.Q527Q|DAB1_uc001cyq.1_Silent_p.Q527Q|DAB1_uc001cyr.1_Silent_p.Q443Q|DAB1_uc009vzw.1_Silent_p.Q511Q|DAB1_uc009vzx.1_Silent_p.Q529Q	p.Q529Q	NM_021080	NP_066566	O75553	DAB1_HUMAN			16	2261	-			562					A4FU90|B3KTG3|Q4LE59|Q5T6M6|Q5T6M9|Q5T835|Q5T836|Q5T837|Q6NWS9|Q6NWT0|Q6NWT1|Q9NYA8	Silent	SNP	ENST00000371231.1	37	c.1587G>A																																																																																					PASS	0.443	DAB1-010	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000027962.1	NM_021080		33	94	33	94	---	---	---	---
LEPR	3953	broad.mit.edu	37	1	66036187	66036187	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2756-01A-01D-1522-08	TCGA-66-2756-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	472c95e6-eccb-4988-be16-fdace73b2ed8	ff4f5936-f847-42ad-aedf-6a6a7fff6002	g.chr1:66036187G>T	ENST00000349533.6	+	4	257	c.72G>T	c.(70-72)ttG>ttT	p.L24F	LEPR_ENST00000371058.1_Missense_Mutation_p.L24F|LEPR_ENST00000462765.1_3'UTR|LEPR_ENST00000371060.3_Missense_Mutation_p.L24F|snoU13_ENST00000459362.1_RNA|LEPR_ENST00000371059.3_Missense_Mutation_p.L24F|LEPR_ENST00000406510.3_5'UTR|LEPR_ENST00000344610.8_Missense_Mutation_p.L24F	NM_002303.5	NP_002294.2	O15243	OBRG_HUMAN	leptin receptor	0					negative regulation of growth hormone receptor signaling pathway (GO:0060400)|negative regulation of JAK-STAT cascade (GO:0046426)|negative regulation of protein localization to cell surface (GO:2000009)	endosome (GO:0005768)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	receptor binding (GO:0005102)	p.L24F(3)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(22)|skin(2)	36				OV - Ovarian serous cystadenocarcinoma(397;0.00722)|KIRC - Kidney renal clear cell carcinoma(1967;0.094)		CGTTTAACTTGTCATATCCAA	0.323																																						uc001dci.2																			3	Substitution - Missense(3)		lung(3)	skin(1)	1						c.(70-72)TTG>TTT		leptin receptor isoform 1							78.0	79.0	79.0					1																	66036187		2203	4300	6503	SO:0001583	missense	3953				energy reserve metabolic process|multicellular organismal development	extracellular region|integral to membrane|plasma membrane	cytokine receptor activity	g.chr1:66036187G>T	U43168	CCDS631.1, CCDS30740.1, CCDS30741.1, CCDS55604.1	1p31	2014-09-17			ENSG00000116678	ENSG00000116678		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6554	protein-coding gene	gene with protein product		601007				8548812, 8812446	Standard	NM_001003680		Approved	OBR, CD295	uc001dci.3	P48357	OTTHUMG00000009115	ENST00000349533.6:c.72G>T	1.37:g.66036187G>T	ENSP00000330393:p.Leu24Phe					LEPR_uc001dcg.2_Missense_Mutation_p.L24F|LEPR_uc001dch.2_Missense_Mutation_p.L24F|LEPR_uc009waq.2_Missense_Mutation_p.L24F|LEPR_uc001dcj.2_Missense_Mutation_p.L24F|LEPR_uc001dck.2_Missense_Mutation_p.L24F	p.L24F	NM_002303	NP_002294	P48357	LEPR_HUMAN		OV - Ovarian serous cystadenocarcinoma(397;0.00722)|KIRC - Kidney renal clear cell carcinoma(1967;0.094)	4	274	+			24			Extracellular (Potential).		Q6FHL5	Missense_Mutation	SNP	ENST00000349533.6	37	c.72G>T	CCDS631.1	.	.	.	.	.	.	.	.	.	.	G	16.91	3.252908	0.59212	.	.	ENSG00000116678	ENST00000344610;ENST00000349533;ENST00000371060;ENST00000371059;ENST00000371058	T;T;T;T;T	0.58060	0.39;0.4;0.4;0.36;0.39	5.56	3.67	0.42095	.	0.988869	0.08247	N	0.975258	T	0.56587	0.1995	M	0.69823	2.125	0.30288	N	0.790644	D;D;D;D	0.65815	0.97;0.984;0.981;0.995	P;P;P;D	0.63793	0.714;0.83;0.881;0.918	T	0.44421	-0.9329	10	0.59425	D	0.04	-0.2942	8.7714	0.34735	0.179:0.0:0.821:0.0	.	24;24;24;24	P48357-4;P48357;P48357-2;P48357-3	.;LEPR_HUMAN;.;.	F	24	ENSP00000340884:L24F;ENSP00000330393:L24F;ENSP00000360099:L24F;ENSP00000360098:L24F;ENSP00000360097:L24F	ENSP00000340884:L24F	L	+	3	2	LEPR	65808775	0.904000	0.30761	0.860000	0.33809	0.918000	0.54935	1.846000	0.39289	1.341000	0.45600	0.460000	0.39030	TTG		PASS	0.323	LEPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025275.1	NM_002303		58	69	58	69	---	---	---	---
LRRC7	57554	broad.mit.edu	37	1	70486774	70486774	+	Missense_Mutation	SNP	G	G	C			TCGA-66-2756-01A-01D-1522-08	TCGA-66-2756-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	472c95e6-eccb-4988-be16-fdace73b2ed8	ff4f5936-f847-42ad-aedf-6a6a7fff6002	g.chr1:70486774G>C	ENST00000035383.5	+	14	1423	c.1393G>C	c.(1393-1395)Gac>Cac	p.D465H	LRRC7_ENST00000310961.5_Missense_Mutation_p.D470H|RP11-181B18.1_ENST00000425754.1_RNA|LRRC7_ENST00000415775.2_5'UTR|RP11-181B18.1_ENST00000414132.1_RNA	NM_020794.2	NP_065845.1	Q96NW7	LRRC7_HUMAN	leucine rich repeat containing 7	465						cell junction (GO:0030054)|cytoplasm (GO:0005737)|postsynaptic membrane (GO:0045211)		p.D465H(1)		breast(11)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(3)|lung(81)|ovary(9)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	162						TGAATTTGAAGACAAAAAAGA	0.388																																						uc001dep.2																			1	Substitution - Missense(1)		lung(1)	ovary(9)|breast(2)|central_nervous_system(2)|liver(1)	14						c.(1393-1395)GAC>CAC		leucine rich repeat containing 7							90.0	85.0	86.0					1																	70486774		2203	4300	6503	SO:0001583	missense	57554					centrosome|focal adhesion|nucleolus	protein binding	g.chr1:70486774G>C		CCDS645.1	1p31.1	2008-02-05			ENSG00000033122	ENSG00000033122			18531	protein-coding gene	gene with protein product		614453				12525888	Standard	NM_020794		Approved	KIAA1365, densin-180	uc001dep.3	Q96NW7	OTTHUMG00000059194	ENST00000035383.5:c.1393G>C	1.37:g.70486774G>C	ENSP00000035383:p.Asp465His					LRRC7_uc009wbg.2_5'UTR	p.D465H	NM_020794	NP_065845	Q96NW7	LRRC7_HUMAN			14	1423	+			465					Q5VXC2|Q5VXC3|Q68D07|Q86VE8|Q8WX20|Q9P2I2	Missense_Mutation	SNP	ENST00000035383.5	37	c.1393G>C	CCDS645.1	.	.	.	.	.	.	.	.	.	.	G	23.9	4.468610	0.84533	.	.	ENSG00000033122	ENST00000310961;ENST00000035383;ENST00000370957	T;T	0.43294	0.95;1.02	5.72	5.72	0.89469	.	0.270973	0.41823	D	0.000809	T	0.24005	0.0581	N	0.14661	0.345	0.80722	D	1	P	0.45594	0.862	B	0.44278	0.445	T	0.06625	-1.0816	10	0.52906	T	0.07	.	18.8773	0.92343	0.0:0.0:1.0:0.0	.	465	Q96NW7	LRRC7_HUMAN	H	470;465;288	ENSP00000309245:D470H;ENSP00000035383:D465H	ENSP00000035383:D465H	D	+	1	0	LRRC7	70259362	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.399000	0.97285	2.689000	0.91719	0.655000	0.94253	GAC		PASS	0.388	LRRC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131261.1	NM_020794		13	57	13	57	---	---	---	---
IFI44	10561	broad.mit.edu	37	1	79121152	79121152	+	Missense_Mutation	SNP	G	G	A			TCGA-66-2756-01A-01D-1522-08	TCGA-66-2756-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	472c95e6-eccb-4988-be16-fdace73b2ed8	ff4f5936-f847-42ad-aedf-6a6a7fff6002	g.chr1:79121152G>A	ENST00000370747.4	+	5	881	c.796G>A	c.(796-798)Gac>Aac	p.D266N	IFI44_ENST00000495254.1_3'UTR|IFI44_ENST00000545124.1_5'UTR	NM_006417.4	NP_006408.3	Q8TCB0	IFI44_HUMAN	interferon-induced protein 44	266					response to virus (GO:0009615)	cytoplasm (GO:0005737)		p.D266N(1)		central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(4)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	21						GTGCAGGGATGACATATTCTA	0.383																																						uc001dip.3																			1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.(796-798)GAC>AAC		interferon-induced, hepatitis C-associated							95.0	96.0	96.0					1																	79121152		2203	4300	6503	SO:0001583	missense	10561				response to virus	cytoplasm		g.chr1:79121152G>A	D28915	CCDS688.1	1p31.1	2013-03-14			ENSG00000137965	ENSG00000137965			16938	protein-coding gene	gene with protein product	"""TBC/LysM-associated domain containing 5"""	610468				7925411	Standard	NM_006417		Approved	MTAP44, p44, TLDC5	uc001dip.4	Q8TCB0	OTTHUMG00000009723	ENST00000370747.4:c.796G>A	1.37:g.79121152G>A	ENSP00000359783:p.Asp266Asn					IFI44_uc010orr.1_Missense_Mutation_p.D266N|IFI44_uc010ors.1_5'UTR	p.D266N	NM_006417	NP_006408	Q8TCB0	IFI44_HUMAN			5	920	+			266					B7ZAG3|D3DQ80|Q14496	Missense_Mutation	SNP	ENST00000370747.4	37	c.796G>A	CCDS688.1	.	.	.	.	.	.	.	.	.	.	G	19.58	3.854654	0.71719	.	.	ENSG00000137965	ENST00000370747;ENST00000438486	T;T	0.42131	2.0;0.98	3.39	3.39	0.38822	.	0.000000	0.85682	D	0.000000	T	0.58264	0.2110	M	0.87269	2.87	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	T	0.62756	-0.6787	10	0.52906	T	0.07	.	10.6198	0.45474	0.0:0.0:1.0:0.0	.	266;266	B7ZB11;Q8TCB0	.;IFI44_HUMAN	N	266;142	ENSP00000359783:D266N;ENSP00000399477:D142N	ENSP00000359783:D266N	D	+	1	0	IFI44	78893740	1.000000	0.71417	0.035000	0.18076	0.003000	0.03518	6.553000	0.73918	2.208000	0.71279	0.508000	0.49915	GAC		PASS	0.383	IFI44-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026825.1	NM_006417		19	187	19	187	---	---	---	---
COL24A1	255631	broad.mit.edu	37	1	86591544	86591544	+	Missense_Mutation	SNP	G	G	A			TCGA-66-2756-01A-01D-1522-08	TCGA-66-2756-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	472c95e6-eccb-4988-be16-fdace73b2ed8	ff4f5936-f847-42ad-aedf-6a6a7fff6002	g.chr1:86591544G>A	ENST00000370571.2	-	3	841	c.475C>T	c.(475-477)Cat>Tat	p.H159Y	COL24A1_ENST00000436319.1_Missense_Mutation_p.H159Y	NM_152890.5	NP_690850.2	Q17RW2	COOA1_HUMAN	collagen, type XXIV, alpha 1	159	Laminin G-like.				extracellular matrix organization (GO:0030198)|hematopoietic progenitor cell differentiation (GO:0002244)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)	p.H159Y(1)		NS(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(9)|liver(1)|lung(56)|ovary(4)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	101				all cancers(265;0.0627)|Epithelial(280;0.0689)		TGCTCATCATGAACACTGTAG	0.343																																						uc001dlj.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|central_nervous_system(1)|skin(1)	5						c.(475-477)CAT>TAT		collagen, type XXIV, alpha 1 precursor							60.0	55.0	57.0					1																	86591544		1847	4097	5944	SO:0001583	missense	255631				cell adhesion	collagen	extracellular matrix structural constituent	g.chr1:86591544G>A	AF410793	CCDS41353.1	1p22.3-p22.2	2013-01-16			ENSG00000171502	ENSG00000171502		"""Collagens"""	20821	protein-coding gene	gene with protein product		610025					Standard	NM_152890		Approved		uc001dlj.3	Q17RW2	OTTHUMG00000010629	ENST00000370571.2:c.475C>T	1.37:g.86591544G>A	ENSP00000359603:p.His159Tyr					COL24A1_uc010osd.1_5'UTR|COL24A1_uc001dlk.2_RNA|COL24A1_uc010ose.1_RNA|COL24A1_uc010osf.1_RNA|COL24A1_uc009wcq.2_Missense_Mutation_p.H159Y	p.H159Y	NM_152890	NP_690850	Q17RW2	COOA1_HUMAN		all cancers(265;0.0627)|Epithelial(280;0.0689)	3	517	-			159			TSP N-terminal.|Laminin G-like.		C9J1X6|Q14BD7|Q59EX5|Q5VY50|Q7Z5L5	Missense_Mutation	SNP	ENST00000370571.2	37	c.475C>T	CCDS41353.1	.	.	.	.	.	.	.	.	.	.	G	14.97	2.695707	0.48202	.	.	ENSG00000171502	ENST00000370571;ENST00000436319	T;T	0.77750	-1.12;-1.12	5.82	4.9	0.64082	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G, thrombospondin-type, N-terminal (1);Laminin G, subdomain 2 (1);	0.000000	0.40818	N	0.001012	T	0.66781	0.2824	L	0.53780	1.695	0.47009	D	0.999282	P;B	0.44380	0.834;0.433	B;B	0.41666	0.363;0.126	T	0.72408	-0.4303	10	0.54805	T	0.06	.	13.4182	0.60980	0.075:0.0:0.925:0.0	.	159;159	F8WDM8;Q17RW2	.;COOA1_HUMAN	Y	159	ENSP00000359603:H159Y;ENSP00000392531:H159Y	ENSP00000359603:H159Y	H	-	1	0	COL24A1	86364132	1.000000	0.71417	1.000000	0.80357	0.931000	0.56810	7.596000	0.82721	2.751000	0.94390	0.655000	0.94253	CAT		PASS	0.343	COL24A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029335.4	NM_152890		19	43	19	43	---	---	---	---
TGFBR3	7049	broad.mit.edu	37	1	92149357	92149357	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2756-01A-01D-1522-08	TCGA-66-2756-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	472c95e6-eccb-4988-be16-fdace73b2ed8	ff4f5936-f847-42ad-aedf-6a6a7fff6002	g.chr1:92149357C>T	ENST00000525962.1	-	16	2556	c.2495G>A	c.(2494-2496)aGt>aAt	p.S832N	TGFBR3_ENST00000370399.2_Missense_Mutation_p.S831N|TGFBR3_ENST00000212355.4_Missense_Mutation_p.S832N			Q03167	TGBR3_HUMAN	transforming growth factor, beta receptor III	832					blastocyst development (GO:0001824)|blood vessel development (GO:0001568)|BMP signaling pathway (GO:0030509)|cardiac epithelial to mesenchymal transition (GO:0060317)|cardiac muscle cell proliferation (GO:0060038)|cell growth (GO:0016049)|cell migration (GO:0016477)|definitive erythrocyte differentiation (GO:0060318)|definitive hemopoiesis (GO:0060216)|epithelial to mesenchymal transition (GO:0001837)|heart morphogenesis (GO:0003007)|heart trabecula formation (GO:0060347)|immune response (GO:0006955)|intracellular signal transduction (GO:0035556)|liver development (GO:0001889)|negative regulation of cellular component movement (GO:0051271)|negative regulation of epithelial cell migration (GO:0010633)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|organ regeneration (GO:0031100)|palate development (GO:0060021)|pathway-restricted SMAD protein phosphorylation (GO:0060389)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|regulation of protein binding (GO:0043393)|response to follicle-stimulating hormone (GO:0032354)|response to hypoxia (GO:0001666)|response to luteinizing hormone (GO:0034699)|response to prostaglandin E (GO:0034695)|transforming growth factor beta receptor complex assembly (GO:0007181)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|inhibin-betaglycan-ActRII complex (GO:0034673)|integral component of plasma membrane (GO:0005887)|proteinaceous extracellular matrix (GO:0005578)	coreceptor activity (GO:0015026)|glycosaminoglycan binding (GO:0005539)|heparin binding (GO:0008201)|PDZ domain binding (GO:0030165)|SMAD binding (GO:0046332)|transforming growth factor beta binding (GO:0050431)|transforming growth factor beta receptor activity, type III (GO:0070123)|transforming growth factor beta receptor binding (GO:0005160)|transforming growth factor beta-activated receptor activity (GO:0005024)|type II transforming growth factor beta receptor binding (GO:0005114)	p.S832N(1)		endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(24)|ovary(3)|prostate(4)|skin(1)|stomach(1)|urinary_tract(3)	55		all_lung(203;0.00719)|Lung NSC(277;0.0268)		all cancers(265;0.0108)|Epithelial(280;0.0825)		GTGGGCAGCACTGCTGTTTTC	0.622																																						uc001doh.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)	3						c.(2494-2496)AGT>AAT		transforming growth factor, beta receptor III							39.0	34.0	36.0					1																	92149357		2203	4298	6501	SO:0001583	missense	7049				BMP signaling pathway|cardiac epithelial to mesenchymal transition|cardiac muscle cell proliferation|cell growth|cell migration|definitive erythrocyte differentiation|heart trabecula formation|immune response|intracellular protein kinase cascade|liver development|negative regulation of cellular component movement|negative regulation of epithelial cell proliferation|palate development|pathway-restricted SMAD protein phosphorylation|response to follicle-stimulating hormone stimulus|response to luteinizing hormone stimulus|response to prostaglandin E stimulus|transforming growth factor beta receptor signaling pathway|ventricular cardiac muscle tissue morphogenesis	external side of plasma membrane|extracellular space|inhibin-betaglycan-ActRII complex|integral to plasma membrane|intracellular membrane-bounded organelle	coreceptor activity|heparin binding|PDZ domain binding|SMAD binding|transforming growth factor beta binding|transforming growth factor beta receptor activity, type III|type II transforming growth factor beta receptor binding	g.chr1:92149357C>T	L07594	CCDS30770.1, CCDS55614.1	1p33-p32	2008-02-05	2007-02-15		ENSG00000069702	ENSG00000069702		"""Proteoglycans / Cell surface : Other"""	11774	protein-coding gene	gene with protein product	"""betaglycan proteoglycan"""	600742	"""transforming growth factor, beta receptor III (betaglycan, 300kDa)"""			1333192, 1319842	Standard	NM_001195684		Approved	betaglycan, BGCAN	uc001doh.3	Q03167	OTTHUMG00000010097	ENST00000525962.1:c.2495G>A	1.37:g.92149357C>T	ENSP00000436127:p.Ser832Asn					TGFBR3_uc009wde.2_Missense_Mutation_p.S527N|TGFBR3_uc010osy.1_Missense_Mutation_p.S790N|TGFBR3_uc001doi.2_Missense_Mutation_p.S831N|TGFBR3_uc001doj.2_Missense_Mutation_p.S831N	p.S832N	NM_003243	NP_003234	Q03167	TGBR3_HUMAN		all cancers(265;0.0108)|Epithelial(280;0.0825)	17	2961	-		all_lung(203;0.00719)|Lung NSC(277;0.0268)	832			Cytoplasmic (Potential).		A0AUW8|A8K5N0|B9EG88|Q5T2T4|Q5U731|Q9UGI2	Missense_Mutation	SNP	ENST00000525962.1	37	c.2495G>A	CCDS30770.1	.	.	.	.	.	.	.	.	.	.	C	35	5.436290	0.96168	.	.	ENSG00000069702	ENST00000212355;ENST00000370399;ENST00000525962;ENST00000465892	T;T;T;T	0.54071	0.59;0.59;0.59;0.59	5.72	5.72	0.89469	.	0.038976	0.85682	D	0.000000	T	0.67401	0.2889	M	0.68952	2.095	0.80722	D	1	D;D;D	0.89917	1.0;0.998;1.0	D;D;D	0.87578	0.998;0.994;0.998	T	0.64499	-0.6393	10	0.44086	T	0.13	-17.8933	19.8863	0.96913	0.0:1.0:0.0:0.0	.	832;831;832	A8K5N0;Q03167-2;Q03167	.;.;TGBR3_HUMAN	N	832;831;832;831	ENSP00000212355:S832N;ENSP00000359426:S831N;ENSP00000436127:S832N;ENSP00000432638:S831N	ENSP00000212355:S832N	S	-	2	0	TGFBR3	91921945	1.000000	0.71417	0.970000	0.41538	0.967000	0.64934	7.396000	0.79891	2.706000	0.92434	0.561000	0.74099	AGT		PASS	0.622	TGFBR3-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000382308.1	NM_003243		8	8	8	8	---	---	---	---
EVI5	7813	broad.mit.edu	37	1	92979246	92979246	+	Silent	SNP	C	C	A	rs138799860		TCGA-66-2756-01A-01D-1522-08	TCGA-66-2756-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	472c95e6-eccb-4988-be16-fdace73b2ed8	ff4f5936-f847-42ad-aedf-6a6a7fff6002	g.chr1:92979246C>A	ENST00000370331.1	-	18	2409	c.2400G>T	c.(2398-2400)ccG>ccT	p.P800P	EVI5_ENST00000540033.1_Silent_p.P800P|EVI5_ENST00000543509.1_Silent_p.P811P	NM_005665.4	NP_005656.4	O60447	EVI5_HUMAN	ecotropic viral integration site 5	800	Interaction with AURKB and INCENP.|Targeting to the centrosomes.				cell cycle (GO:0007049)|cell division (GO:0051301)|cell proliferation (GO:0008283)|multicellular organismal development (GO:0007275)|positive regulation of GTP catabolic process (GO:0033126)|positive regulation of Rab GTPase activity (GO:0032851)|retrograde transport, endosome to Golgi (GO:0042147)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	Rab GTPase activator activity (GO:0005097)|Rab GTPase binding (GO:0017137)	p.P800P(1)		breast(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|prostate(1)|skin(1)	38		all_lung(203;0.00146)|Lung NSC(277;0.00565)|all_neural(321;0.185)|Melanoma(281;0.193)|Glioma(108;0.203)		Epithelial(280;8.09e-25)|OV - Ovarian serous cystadenocarcinoma(397;1.27e-22)|all cancers(265;1.74e-21)|GBM - Glioblastoma multiforme(16;0.00233)|BRCA - Breast invasive adenocarcinoma(282;0.211)		CTCTTCTTCTCGGGGGCCGCT	0.483																																						uc001dox.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|breast(1)	2						c.(2398-2400)CCG>CCT		ecotropic viral integration site 5							146.0	148.0	147.0					1																	92979246		2203	4300	6503	SO:0001819	synonymous_variant	7813				cell cycle|cell division|cell proliferation|multicellular organismal development	microtubule organizing center|nucleus|spindle	protein binding|Rab GTPase activator activity	g.chr1:92979246C>A	AF008915	CCDS30774.1	1p22	2013-07-09			ENSG00000067208	ENSG00000067208			3501	protein-coding gene	gene with protein product	"""neuroblastoma stage 4S gene"""	602942				9618176	Standard	XM_005271180		Approved	NB4S	uc001dox.3	O60447	OTTHUMG00000010895	ENST00000370331.1:c.2400G>T	1.37:g.92979246C>A						EVI5_uc010otf.1_Silent_p.P811P	p.P800P	NM_005665	NP_005656	O60447	EVI5_HUMAN		Epithelial(280;8.09e-25)|OV - Ovarian serous cystadenocarcinoma(397;1.27e-22)|all cancers(265;1.74e-21)|GBM - Glioblastoma multiforme(16;0.00233)|BRCA - Breast invasive adenocarcinoma(282;0.211)	18	2410	-		all_lung(203;0.00146)|Lung NSC(277;0.00565)|all_neural(321;0.185)|Melanoma(281;0.193)|Glioma(108;0.203)	800			Targeting to the centrosomes.|Interaction with AURKB and INCENP.		A6NKX8|B9A6J0|Q9H1Y9	Silent	SNP	ENST00000370331.1	37	c.2400G>T	CCDS30774.1																																																																																				PASS	0.483	EVI5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030047.1	NM_005665		60	122	60	122	---	---	---	---
COL11A1	1301	broad.mit.edu	37	1	103388930	103388930	+	Missense_Mutation	SNP	G	G	C			TCGA-66-2756-01A-01D-1522-08	TCGA-66-2756-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	472c95e6-eccb-4988-be16-fdace73b2ed8	ff4f5936-f847-42ad-aedf-6a6a7fff6002	g.chr1:103388930G>C	ENST00000370096.3	-	47	3928	c.3616C>G	c.(3616-3618)Cct>Gct	p.P1206A	COL11A1_ENST00000353414.4_Missense_Mutation_p.P1167A|COL11A1_ENST00000512756.1_Missense_Mutation_p.P1090A|COL11A1_ENST00000358392.2_Missense_Mutation_p.P1218A	NM_001854.3	NP_001845.3	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	1206	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.P1206A(1)|p.P1218A(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)		TTTTCACCAGGTGGGCCTGGC	0.343																																						uc001dul.2																			2	Substitution - Missense(2)		lung(2)	ovary(6)|breast(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)|pancreas(1)	12						c.(3616-3618)CCT>GCT		alpha 1 type XI collagen isoform A							47.0	45.0	45.0					1																	103388930		2202	4299	6501	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.chr1:103388930G>C	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.3616C>G	1.37:g.103388930G>C	ENSP00000359114:p.Pro1206Ala					COL11A1_uc001duk.2_Missense_Mutation_p.P402A|COL11A1_uc001dum.2_Missense_Mutation_p.P1218A|COL11A1_uc001dun.2_Missense_Mutation_p.P1167A|COL11A1_uc009weh.2_Missense_Mutation_p.P1090A	p.P1206A	NM_001854	NP_001845	P12107	COBA1_HUMAN		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)	47	3934	-		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)	1206			Triple-helical region.		B1ASK7|D3DT73|E9PCU0|Q14034|Q149N0|Q9UIT4|Q9UIT5|Q9UIT6	Missense_Mutation	SNP	ENST00000370096.3	37	c.3616C>G	CCDS778.1	.	.	.	.	.	.	.	.	.	.	G	17.41	3.381867	0.61845	.	.	ENSG00000060718	ENST00000370096;ENST00000358392;ENST00000353414;ENST00000370090;ENST00000512756	D;D;D;D	0.96554	-3.3;-4.05;-3.3;-3.3	5.15	5.15	0.70609	.	0.000000	0.85682	D	0.000000	D	0.96334	0.8804	L	0.33710	1.025	0.80722	D	1	D;D;D;D;D	0.76494	0.993;0.999;0.999;0.999;0.996	D;D;D;D;D	0.83275	0.971;0.996;0.996;0.991;0.981	D	0.97214	0.9873	10	0.59425	D	0.04	.	17.6109	0.88053	0.0:0.0:1.0:0.0	.	1090;1167;1218;1206;426	E9PCU0;P12107-3;P12107-2;P12107;F5H5Z5	.;.;.;COBA1_HUMAN;.	A	1206;1218;1167;426;1090	ENSP00000359114:P1206A;ENSP00000351163:P1218A;ENSP00000302551:P1167A;ENSP00000426533:P1090A	ENSP00000302551:P1167A	P	-	1	0	COL11A1	103161518	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	8.978000	0.93450	2.397000	0.81536	0.460000	0.39030	CCT		PASS	0.343	COL11A1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000029997.1	NM_080630		8	14	8	14	---	---	---	---
SLC25A24	29957	broad.mit.edu	37	1	108703861	108703861	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2756-01A-01D-1522-08	TCGA-66-2756-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	472c95e6-eccb-4988-be16-fdace73b2ed8	ff4f5936-f847-42ad-aedf-6a6a7fff6002	g.chr1:108703861G>T	ENST00000565488.1	-	4	672	c.453C>A	c.(451-453)ttC>ttA	p.F151L	SLC25A24_ENST00000370041.4_Missense_Mutation_p.F132L	NM_013386.4	NP_037518.3	Q6NUK1	SCMC1_HUMAN	solute carrier family 25 (mitochondrial carrier; phosphate carrier), member 24	151	EF-hand 4. {ECO:0000255|PROSITE- ProRule:PRU00448}.				ATP transport (GO:0015867)|cellular response to calcium ion (GO:0071277)|cellular response to oxidative stress (GO:0034599)|mitochondrial transport (GO:0006839)|regulation of cell death (GO:0010941)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	ATP transmembrane transporter activity (GO:0005347)|calcium ion binding (GO:0005509)	p.F132L(1)|p.F151L(1)		endometrium(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	16		all_epithelial(167;3.72e-05)|all_lung(203;0.000567)|Lung NSC(277;0.0011)|Melanoma(281;0.211)		Colorectal(144;0.0345)|Lung(183;0.0971)|COAD - Colon adenocarcinoma(174;0.127)|Epithelial(280;0.134)		GATTAAATAAGAAGTAGTCTC	0.303																																						uc001dvn.3																			2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(451-453)TTC>TTA		solute carrier family 25 member 24 isoform 1							109.0	110.0	110.0					1																	108703861		2203	4299	6502	SO:0001583	missense	29957				transmembrane transport	integral to membrane|mitochondrial inner membrane	calcium ion binding	g.chr1:108703861G>T	AJ619961	CCDS786.1, CCDS41361.1	1p13.2	2013-05-22			ENSG00000085491	ENSG00000085491		"""Solute carriers"", ""EF-hand domain containing"""	20662	protein-coding gene	gene with protein product		608744				15123600	Standard	NM_013386		Approved	DKFZp586G0123, APC1	uc001dvn.5	Q6NUK1	OTTHUMG00000011013	ENST00000565488.1:c.453C>A	1.37:g.108703861G>T	ENSP00000457733:p.Phe151Leu					SLC25A24_uc001dvm.2_Missense_Mutation_p.F132L	p.F151L	NM_013386	NP_037518	Q6NUK1	SCMC1_HUMAN		Colorectal(144;0.0345)|Lung(183;0.0971)|COAD - Colon adenocarcinoma(174;0.127)|Epithelial(280;0.134)	4	667	-		all_epithelial(167;3.72e-05)|all_lung(203;0.000567)|Lung NSC(277;0.0011)|Melanoma(281;0.211)	151			EF-hand 4.|Mitochondrial intermembrane (Potential).		B7ZAI9|Q5T331|Q5T485|Q6PJJ9|Q705K4|Q9P129	Missense_Mutation	SNP	ENST00000565488.1	37	c.453C>A	CCDS41361.1	.	.	.	.	.	.	.	.	.	.	G	10.56	1.385395	0.25031	.	.	ENSG00000085491	ENST00000264128;ENST00000370041	T	0.36878	1.23	5.32	0.764	0.18465	EF-hand-like domain (1);	0.000000	0.85682	D	0.000000	T	0.08223	0.0205	L	0.39326	1.205	0.80722	D	1	B;B	0.14438	0.01;0.008	B;B	0.20577	0.023;0.03	T	0.35126	-0.9801	10	0.02654	T	1	-22.041	7.5624	0.27860	0.5134:0.0:0.4866:0.0	.	151;132	Q6NUK1;Q6NUK1-2	SCMC1_HUMAN;.	L	151;132	ENSP00000359058:F132L	ENSP00000264128:F151L	F	-	3	2	SLC25A24	108505384	1.000000	0.71417	0.982000	0.44146	0.977000	0.68977	2.406000	0.44557	0.233000	0.21120	-0.229000	0.12294	TTC		PASS	0.303	SLC25A24-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000030280.2	NM_013386		35	78	35	78	---	---	---	---
VPS72	6944	broad.mit.edu	37	1	151156932	151156932	+	Silent	SNP	T	T	C			TCGA-66-2756-01A-01D-1522-08	TCGA-66-2756-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	472c95e6-eccb-4988-be16-fdace73b2ed8	ff4f5936-f847-42ad-aedf-6a6a7fff6002	g.chr1:151156932T>C	ENST00000354473.4	-	4	459	c.423A>G	c.(421-423)acA>acG	p.T141T	VPS72_ENST00000496809.1_5'UTR			Q15906	VPS72_HUMAN	vacuolar protein sorting 72 homolog (S. cerevisiae)	141					chromatin modification (GO:0016568)|chromatin organization (GO:0006325)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|somatic stem cell maintenance (GO:0035019)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	DNA binding (GO:0003677)	p.T141T(1)		breast(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(6)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	14	Lung SC(34;0.00471)|Ovarian(49;0.0147)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)			ACGTTTGTCGTGTATGCTCAG	0.498																																					Pancreas(109;1131 2287 3209 24201)	uc001exe.1																			1	Substitution - coding silent(1)		lung(1)	breast(1)|pancreas(1)	2						c.(421-423)ACA>ACG		transcription factor-like 1							80.0	77.0	78.0					1																	151156932		2203	4300	6503	SO:0001819	synonymous_variant	6944				chromatin modification|negative regulation of transcription from RNA polymerase II promoter	nucleus|protein complex	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr1:151156932T>C	D43642	CCDS989.1, CCDS59201.1	1q21	2008-02-05	2006-12-19	2005-09-08	ENSG00000163159	ENSG00000163159			11644	protein-coding gene	gene with protein product		600607	"""transcription factor-like 1"", ""vacuolar protein sorting 72 (yeast)"""	TCFL1		7702631	Standard	NM_001271087		Approved	YL-1, YL1, Swc2	uc001exe.2	Q15906	OTTHUMG00000012345	ENST00000354473.4:c.423A>G	1.37:g.151156932T>C						VPS72_uc001exf.1_Silent_p.T141T	p.T141T	NM_005997	NP_005988	Q15906	VPS72_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)		4	466	-	Lung SC(34;0.00471)|Ovarian(49;0.0147)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		141					A6NLK9|A6PW55|Q53GJ2|Q5U0R4	Silent	SNP	ENST00000354473.4	37	c.423A>G	CCDS59201.1																																																																																				PASS	0.498	VPS72-002	NOVEL	mRNA_start_NF|basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000034394.3	NM_005997		23	137	23	137	---	---	---	---
TCHHL1	126637	broad.mit.edu	37	1	152057685	152057685	+	Nonsense_Mutation	SNP	G	G	A			TCGA-66-2756-01A-01D-1522-08	TCGA-66-2756-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	472c95e6-eccb-4988-be16-fdace73b2ed8	ff4f5936-f847-42ad-aedf-6a6a7fff6002	g.chr1:152057685G>A	ENST00000368806.1	-	3	2537	c.2473C>T	c.(2473-2475)Cag>Tag	p.Q825*		NM_001008536.1	NP_001008536.1	Q5QJ38	TCHL1_HUMAN	trichohyalin-like 1	825							calcium ion binding (GO:0005509)	p.Q825*(1)		breast(4)|endometrium(1)|kidney(2)|large_intestine(9)|lung(33)|ovary(2)|prostate(1)|skin(7)|stomach(1)	60	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.246)			TGGGCTATCTGAACTTGCTTT	0.478																																						uc001ezo.1																			1	Substitution - Nonsense(1)		lung(1)	ovary(1)|skin(1)	2						c.(2473-2475)CAG>TAG		trichohyalin-like 1							295.0	261.0	272.0					1																	152057685		2203	4300	6503	SO:0001587	stop_gained	126637						calcium ion binding	g.chr1:152057685G>A		CCDS30857.1	1q21.3	2011-10-11	2004-10-05	2006-01-27	ENSG00000182898	ENSG00000182898		"""S100 calcium binding proteins"""	31796	protein-coding gene	gene with protein product			"""S100 calcium binding protein A17"""	S100A17, THHL1			Standard	NM_001008536		Approved		uc001ezo.1	Q5QJ38	OTTHUMG00000013058	ENST00000368806.1:c.2473C>T	1.37:g.152057685G>A	ENSP00000357796:p.Gln825*						p.Q825*	NM_001008536	NP_001008536	Q5QJ38	TCHL1_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.246)		3	2538	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		825					B2RPK8|Q5VTJ9	Nonsense_Mutation	SNP	ENST00000368806.1	37	c.2473C>T	CCDS30857.1	.	.	.	.	.	.	.	.	.	.	.	26.3	4.720151	0.89205	.	.	ENSG00000182898	ENST00000368806	.	.	.	4.56	1.12	0.20585	.	2.182250	0.02730	N	0.114925	.	.	.	.	.	.	0.58432	D	0.999998	.	.	.	.	.	.	.	.	.	.	0.06236	T	0.91	0.3322	3.335	0.07098	0.1093:0.1678:0.5491:0.1739	.	.	.	.	X	825	.	ENSP00000357796:Q825X	Q	-	1	0	TCHHL1	150324309	0.000000	0.05858	0.002000	0.10522	0.022000	0.10575	-0.255000	0.08769	0.321000	0.23259	0.591000	0.81541	CAG		PASS	0.478	TCHHL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036638.2	XM_060104		196	103	196	103	---	---	---	---
FLG	2312	broad.mit.edu	37	1	152276658	152276658	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2756-01A-01D-1522-08	TCGA-66-2756-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	472c95e6-eccb-4988-be16-fdace73b2ed8	ff4f5936-f847-42ad-aedf-6a6a7fff6002	g.chr1:152276658C>A	ENST00000368799.1	-	3	10739	c.10704G>T	c.(10702-10704)caG>caT	p.Q3568H	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	3568	Ser-rich.				establishment of skin barrier (GO:0061436)|keratinocyte differentiation (GO:0030216)|multicellular organismal development (GO:0007275)	cytoplasmic membrane-bounded vesicle (GO:0016023)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)	p.Q3568H(1)		autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TTGACTGCTCCTGAGCAGATC	0.567									Ichthyosis																													uc001ezu.1																			1	Substitution - Missense(1)		lung(1)	ovary(9)|skin(4)|upper_aerodigestive_tract(3)	16						c.(10702-10704)CAG>CAT		filaggrin							148.0	202.0	183.0					1																	152276658		2203	4300	6503	SO:0001583	missense	2312	Ichthyosis	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	g.chr1:152276658C>A	XM_048104	CCDS30860.1	1q21.3	2013-01-10			ENSG00000143631	ENSG00000143631		"""EF-hand domain containing"""	3748	protein-coding gene	gene with protein product		135940				2740331, 2248957, 16444271	Standard	NM_002016		Approved		uc001ezu.1	P20930	OTTHUMG00000012202	ENST00000368799.1:c.10704G>T	1.37:g.152276658C>A	ENSP00000357789:p.Gln3568His						p.Q3568H	NM_002016	NP_002007	P20930	FILA_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	10740	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		3568			Ser-rich.		Q01720|Q5T583|Q9UC71	Missense_Mutation	SNP	ENST00000368799.1	37	c.10704G>T	CCDS30860.1	.	.	.	.	.	.	.	.	.	.	C	3.265	-0.150438	0.06585	.	.	ENSG00000143631	ENST00000368799	T	0.00808	5.67	3.16	-6.33	0.01988	.	.	.	.	.	T	0.00608	0.0020	L	0.44542	1.39	0.09310	N	1	D	0.64830	0.994	P	0.58331	0.837	T	0.06752	-1.0809	9	0.41790	T	0.15	.	6.7339	0.23399	0.4828:0.3557:0.1615:0.0	.	3568	P20930	FILA_HUMAN	H	3568	ENSP00000357789:Q3568H	ENSP00000357789:Q3568H	Q	-	3	2	FLG	150543282	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-4.901000	0.00172	-2.549000	0.00480	-0.779000	0.03376	CAG		PASS	0.567	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	NM_002016		259	371	259	371	---	---	---	---
ADAR	103	broad.mit.edu	37	1	154575070	154575070	+	Silent	SNP	T	T	C			TCGA-66-2756-01A-01D-1522-08	TCGA-66-2756-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	472c95e6-eccb-4988-be16-fdace73b2ed8	ff4f5936-f847-42ad-aedf-6a6a7fff6002	g.chr1:154575070T>C	ENST00000368474.4	-	2	247	c.48A>G	c.(46-48)ccA>ccG	p.P16P	ADAR_ENST00000471068.1_5'UTR|ADAR_ENST00000292205.5_Silent_p.P59P|ADAR_ENST00000368471.3_5'UTR	NM_001111.4|NM_015840.3|NM_015841.3	NP_001102|NP_056655.2|NP_056656.2	P55265	DSRAD_HUMAN	adenosine deaminase, RNA-specific	16					adenosine to inosine editing (GO:0006382)|base conversion or substitution editing (GO:0016553)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|gene expression (GO:0010467)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|miRNA loading onto RISC involved in gene silencing by miRNA (GO:0035280)|mRNA modification (GO:0016556)|mRNA processing (GO:0006397)|negative regulation of apoptotic process (GO:0043066)|negative regulation of protein kinase activity by regulation of protein phosphorylation (GO:0044387)|negative regulation of viral genome replication (GO:0045071)|positive regulation of viral genome replication (GO:0045070)|pre-miRNA processing (GO:0031054)|protein export from nucleus (GO:0006611)|protein import into nucleus (GO:0006606)|response to interferon-alpha (GO:0035455)|response to virus (GO:0009615)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|supraspliceosomal complex (GO:0044530)	DNA binding (GO:0003677)|double-stranded RNA adenosine deaminase activity (GO:0003726)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)	p.P16P(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|lung(20)|ovary(4)|prostate(2)|skin(2)	51	all_lung(78;2.22e-29)|Lung NSC(65;3.66e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.0997)		LUSC - Lung squamous cell carcinoma(543;0.185)	Colorectal(1306;0.115)		AGCCTTGAAATGGATGGGTGT	0.507																																						uc001ffh.2																			1	Substitution - coding silent(1)		lung(1)	ovary(3)|breast(1)|central_nervous_system(1)|skin(1)	6						c.(46-48)CCA>CCG		adenosine deaminase, RNA-specific isoform a							48.0	49.0	49.0					1																	154575070		2202	4299	6501	SO:0001819	synonymous_variant	103				adenosine to inosine editing|gene silencing by RNA|mRNA modification|mRNA processing|type I interferon-mediated signaling pathway	cytoplasm|nucleolus|nucleoplasm	DNA binding|double-stranded RNA adenosine deaminase activity|metal ion binding	g.chr1:154575070T>C	BC038227	CCDS1071.1, CCDS30879.1	1q21.3	2012-03-22			ENSG00000160710	ENSG00000160710	3.5.4.-		225	protein-coding gene	gene with protein product		146920	"""interferon-induced protein 4"""	IFI4, G1P1		7972084	Standard	NM_001111		Approved	ADAR1	uc001ffh.3	P55265	OTTHUMG00000037261	ENST00000368474.4:c.48A>G	1.37:g.154575070T>C						ADAR_uc001ffj.2_Silent_p.P16P|ADAR_uc001ffi.2_Silent_p.P16P|ADAR_uc001ffk.2_5'UTR|ADAR_uc001ffl.1_5'UTR|ADAR_uc001ffm.1_RNA|ADAR_uc001ffn.1_Silent_p.P16P	p.P16P	NM_001111	NP_001102	P55265	DSRAD_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.185)	Colorectal(1306;0.115)	2	248	-	all_lung(78;2.22e-29)|Lung NSC(65;3.66e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.0997)		16					B1AQQ9|B1AQR0|D3DV76|O15223|O43859|O43860|Q9BYM3|Q9BYM4	Silent	SNP	ENST00000368474.4	37	c.48A>G	CCDS1071.1																																																																																				PASS	0.507	ADAR-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000090691.2	NM_001111		66	42	66	42	---	---	---	---
ZBTB7B	51043	broad.mit.edu	37	1	154987802	154987802	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2756-01A-01D-1522-08	TCGA-66-2756-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	472c95e6-eccb-4988-be16-fdace73b2ed8	ff4f5936-f847-42ad-aedf-6a6a7fff6002	g.chr1:154987802G>T	ENST00000368426.3	+	3	803	c.666G>T	c.(664-666)gaG>gaT	p.E222D	ZBTB7B_ENST00000417934.2_Missense_Mutation_p.E256D|ZBTB7B_ENST00000292176.2_Missense_Mutation_p.E222D|ZBTB7B_ENST00000535420.1_Missense_Mutation_p.E222D	NM_001256455.1	NP_001243384.1	O15156	ZBT7B_HUMAN	zinc finger and BTB domain containing 7B	222					cell differentiation (GO:0030154)|ectoderm development (GO:0007398)|multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.E222D(1)		endometrium(4)|kidney(1)|large_intestine(2)|liver(1)|lung(14)|ovary(1)|prostate(3)|skin(3)	29	all_epithelial(22;2.77e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			TAGTCCCTGAGGTGCCCACAG	0.687																																						uc001fgk.3																			1	Substitution - Missense(1)		lung(1)		0						c.(664-666)GAG>GAT		zinc finger and BTB domain containing 7B							32.0	36.0	35.0					1																	154987802		2203	4300	6503	SO:0001583	missense	51043				cell differentiation|ectoderm development|multicellular organismal development|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	DNA binding|zinc ion binding	g.chr1:154987802G>T	AF007833	CCDS1081.1, CCDS58030.1	1q21.2	2013-01-08		2005-04-07	ENSG00000160685	ENSG00000160685		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	18668	protein-coding gene	gene with protein product	"""zinc finger and BTB domain containing 15"""	607646	"""zinc finger protein 67 homolog (mouse)"""	ZFP67		9370309, 7937772	Standard	NR_045515		Approved	ZBTB15, c-Krox, hcKrox, ZNF857B	uc010peq.3	O15156	OTTHUMG00000037414	ENST00000368426.3:c.666G>T	1.37:g.154987802G>T	ENSP00000357411:p.Glu222Asp					ZBTB7B_uc009wpa.2_Missense_Mutation_p.E222D|ZBTB7B_uc001fgj.3_Missense_Mutation_p.E256D|ZBTB7B_uc010peq.1_Missense_Mutation_p.E256D|ZBTB7B_uc001fgl.3_Missense_Mutation_p.E222D	p.E222D	NM_015872	NP_056956	O15156	ZBT7B_HUMAN	BRCA - Breast invasive adenocarcinoma(34;0.00034)		3	824	+	all_epithelial(22;2.77e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		222					B4E3K5|D3DV83|J3KQQ3|Q68DR2|Q96EP2	Missense_Mutation	SNP	ENST00000368426.3	37	c.666G>T	CCDS1081.1	.	.	.	.	.	.	.	.	.	.	G	5.957	0.360486	0.11296	.	.	ENSG00000160685	ENST00000535420;ENST00000368426;ENST00000417934;ENST00000292176	T;T;T;T	0.09255	3.03;3.03;3.0;3.03	3.93	-0.828	0.10799	.	0.677286	0.13628	N	0.373934	T	0.01092	0.0036	N	0.08118	0	0.25527	N	0.987313	B;B;B	0.14012	0.009;0.005;0.009	B;B;B	0.10450	0.005;0.003;0.005	T	0.47341	-0.9125	10	0.21014	T	0.42	.	2.9802	0.05951	0.3548:0.0:0.4373:0.2079	.	222;222;256	A8K6F4;O15156;B4E3K5	.;ZBT7B_HUMAN;.	D	222;222;256;222	ENSP00000438647:E222D;ENSP00000357411:E222D;ENSP00000406286:E256D;ENSP00000292176:E222D	ENSP00000292176:E222D	E	+	3	2	ZBTB7B	153254426	0.997000	0.39634	0.330000	0.25442	0.660000	0.38997	0.321000	0.19558	0.022000	0.15160	0.462000	0.41574	GAG		PASS	0.687	ZBTB7B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091083.1	NM_015872		15	75	15	75	---	---	---	---
BCAN	63827	broad.mit.edu	37	1	156617450	156617450	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2756-01A-01D-1522-08	TCGA-66-2756-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	472c95e6-eccb-4988-be16-fdace73b2ed8	ff4f5936-f847-42ad-aedf-6a6a7fff6002	g.chr1:156617450G>T	ENST00000329117.5	+	4	953	c.617G>T	c.(616-618)gGc>gTc	p.G206V	RP11-284F21.10_ENST00000605886.1_RNA|BCAN_ENST00000361588.5_Missense_Mutation_p.G206V|RP11-284F21.7_ENST00000448869.1_RNA	NM_021948.4	NP_068767.3	Q96GW7	PGCB_HUMAN	brevican	206	Link 1. {ECO:0000255|PROSITE- ProRule:PRU00323}.				carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glycosaminoglycan metabolic process (GO:0030203)|hippocampus development (GO:0021766)|small molecule metabolic process (GO:0044281)	anchored component of membrane (GO:0031225)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|proteinaceous extracellular matrix (GO:0005578)	carbohydrate binding (GO:0030246)|hyaluronic acid binding (GO:0005540)	p.G206V(2)|p.G206D(2)		cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	55	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					TGTGATGCTGGCTGGCTGTCG	0.657																																						uc001fpp.2																			4	Substitution - Missense(4)		lung(4)	ovary(1)|pancreas(1)	2						c.(616-618)GGC>GTC		brevican isoform 1							81.0	85.0	84.0					1																	156617450		2203	4300	6503	SO:0001583	missense	63827				cell adhesion	anchored to membrane|proteinaceous extracellular matrix	hyaluronic acid binding|sugar binding	g.chr1:156617450G>T	BC027971	CCDS1149.1, CCDS1150.1	1q31	2013-05-07			ENSG00000132692	ENSG00000132692		"""Immunoglobulin superfamily / V-set domain containing"", ""Proteoglycans / Extracellular Matrix : Hyalectans"""	23059	protein-coding gene	gene with protein product	"""chondroitin sulfate proteoglycan 7"", ""brevican proteoglycan"""	600347				11054543, 11873941	Standard	NM_021948		Approved	BEHAB, MGC13038, CSPG7	uc001fpp.3	Q96GW7	OTTHUMG00000033322	ENST00000329117.5:c.617G>T	1.37:g.156617450G>T	ENSP00000331210:p.Gly206Val					BCAN_uc001fpo.2_Missense_Mutation_p.G206V	p.G206V	NM_021948	NP_068767	Q96GW7	PGCB_HUMAN			4	953	+	all_hematologic(923;0.088)|Hepatocellular(266;0.158)		206			Link 1.		D3DVC2|Q5SZ10|Q5T3I5|Q8TBB9|Q9HBK1|Q9HBK4	Missense_Mutation	SNP	ENST00000329117.5	37	c.617G>T	CCDS1149.1	.	.	.	.	.	.	.	.	.	.	G	25.3	4.626842	0.87560	.	.	ENSG00000132692	ENST00000329117;ENST00000457777;ENST00000424639;ENST00000361588	T;T;T;T	0.28666	1.6;1.6;1.6;1.6	4.28	4.28	0.50868	C-type lectin fold (1);Link (5);C-type lectin-like (1);	0.000000	0.64402	D	0.000015	T	0.59445	0.2194	M	0.93854	3.465	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	T	0.72481	-0.4280	10	0.87932	D	0	-24.6257	15.4434	0.75208	0.0:0.0:1.0:0.0	.	206;206	Q96GW7;Q96GW7-2	PGCB_HUMAN;.	V	206;206;104;206	ENSP00000331210:G206V;ENSP00000389898:G206V;ENSP00000401709:G104V;ENSP00000354925:G206V	ENSP00000331210:G206V	G	+	2	0	BCAN	154884074	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	9.564000	0.98151	2.196000	0.70406	0.455000	0.32223	GGC		PASS	0.657	BCAN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000081844.2	NM_021948		28	170	28	170	---	---	---	---
BCAN	63827	broad.mit.edu	37	1	156626883	156626883	+	Missense_Mutation	SNP	T	T	G			TCGA-66-2756-01A-01D-1522-08	TCGA-66-2756-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	472c95e6-eccb-4988-be16-fdace73b2ed8	ff4f5936-f847-42ad-aedf-6a6a7fff6002	g.chr1:156626883T>G	ENST00000329117.5	+	10	2540	c.2204T>G	c.(2203-2205)aTc>aGc	p.I735S	RP11-284F21.7_ENST00000448869.1_RNA	NM_021948.4	NP_068767.3	Q96GW7	PGCB_HUMAN	brevican	735	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glycosaminoglycan metabolic process (GO:0030203)|hippocampus development (GO:0021766)|small molecule metabolic process (GO:0044281)	anchored component of membrane (GO:0031225)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|proteinaceous extracellular matrix (GO:0005578)	carbohydrate binding (GO:0030246)|hyaluronic acid binding (GO:0005540)	p.I735S(1)		cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	55	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					CAGGACTTCATCAACAGTGGG	0.592																																						uc001fpp.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|pancreas(1)	2						c.(2203-2205)ATC>AGC		brevican isoform 1							46.0	50.0	48.0					1																	156626883		2203	4300	6503	SO:0001583	missense	63827				cell adhesion	anchored to membrane|proteinaceous extracellular matrix	hyaluronic acid binding|sugar binding	g.chr1:156626883T>G	BC027971	CCDS1149.1, CCDS1150.1	1q31	2013-05-07			ENSG00000132692	ENSG00000132692		"""Immunoglobulin superfamily / V-set domain containing"", ""Proteoglycans / Extracellular Matrix : Hyalectans"""	23059	protein-coding gene	gene with protein product	"""chondroitin sulfate proteoglycan 7"", ""brevican proteoglycan"""	600347				11054543, 11873941	Standard	NM_021948		Approved	BEHAB, MGC13038, CSPG7	uc001fpp.3	Q96GW7	OTTHUMG00000033322	ENST00000329117.5:c.2204T>G	1.37:g.156626883T>G	ENSP00000331210:p.Ile735Ser						p.I735S	NM_021948	NP_068767	Q96GW7	PGCB_HUMAN			10	2540	+	all_hematologic(923;0.088)|Hepatocellular(266;0.158)		735			C-type lectin.		D3DVC2|Q5SZ10|Q5T3I5|Q8TBB9|Q9HBK1|Q9HBK4	Missense_Mutation	SNP	ENST00000329117.5	37	c.2204T>G	CCDS1149.1	.	.	.	.	.	.	.	.	.	.	T	26.0	4.691910	0.88735	.	.	ENSG00000132692	ENST00000329117	T	0.21734	1.99	5.05	5.05	0.67936	C-type lectin fold (1);C-type lectin-like (1);C-type lectin (3);	0.188408	0.31020	N	0.008414	T	0.27765	0.0683	M	0.73430	2.235	0.80722	D	1	P	0.51147	0.942	P	0.52386	0.697	T	0.07501	-1.0769	10	0.87932	D	0	-10.6217	13.7626	0.62975	0.0:0.0:0.0:1.0	.	735	Q96GW7	PGCB_HUMAN	S	735	ENSP00000331210:I735S	ENSP00000331210:I735S	I	+	2	0	BCAN	154893507	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.849000	0.86908	2.134000	0.65973	0.459000	0.35465	ATC		PASS	0.592	BCAN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000081844.2	NM_021948		47	19	47	19	---	---	---	---
PEAR1	375033	broad.mit.edu	37	1	156883542	156883542	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2756-01A-01D-1522-08	TCGA-66-2756-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	472c95e6-eccb-4988-be16-fdace73b2ed8	ff4f5936-f847-42ad-aedf-6a6a7fff6002	g.chr1:156883542C>G	ENST00000338302.3	+	22	2928	c.2703C>G	c.(2701-2703)ttC>ttG	p.F901L	PEAR1_ENST00000292357.7_Missense_Mutation_p.F901L			Q5VY43	PEAR1_HUMAN	platelet endothelial aggregation receptor 1	901	Pro-rich.				recognition of apoptotic cell (GO:0043654)	integral component of membrane (GO:0016021)|phagocytic cup (GO:0001891)		p.F901L(1)		breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(6)|lung(22)|ovary(4)|skin(3)|upper_aerodigestive_tract(1)	43	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					CAGGCCCATTCTACAATAAAG	0.577																																						uc001fqj.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)|central_nervous_system(1)	3						c.(2701-2703)TTC>TTG		platelet endothelial aggregation receptor 1							51.0	53.0	53.0					1																	156883542		2203	4300	6503	SO:0001583	missense	375033					integral to membrane		g.chr1:156883542C>G	AK098809	CCDS30892.1	1q23.1	2008-02-05	2007-10-25	2007-10-25	ENSG00000187800	ENSG00000187800			33631	protein-coding gene	gene with protein product		610278	"""multiple EGF-like-domains 12"""	MEGF12		15851471	Standard	NM_001080471		Approved	JEDI, FLJ00193	uc001fqj.1	Q5VY43	OTTHUMG00000041293	ENST00000338302.3:c.2703C>G	1.37:g.156883542C>G	ENSP00000344465:p.Phe901Leu					PEAR1_uc001fqk.1_Missense_Mutation_p.F526L	p.F901L	NM_001080471	NP_001073940	Q5VY43	PEAR1_HUMAN			21	2819	+	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)		901			Pro-rich.		Q8TEK2	Missense_Mutation	SNP	ENST00000338302.3	37	c.2703C>G	CCDS30892.1	.	.	.	.	.	.	.	.	.	.	C	12.16	1.855438	0.32791	.	.	ENSG00000187800	ENST00000338302;ENST00000292357	D;D	0.87650	-2.28;-2.28	5.49	4.54	0.55810	.	0.292982	0.24511	N	0.037897	T	0.56587	0.1995	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.34700	-0.9818	10	0.14656	T	0.56	.	12.3937	0.55373	0.0:0.8318:0.1682:0.0	.	901	Q5VY43	PEAR1_HUMAN	L	901	ENSP00000344465:F901L;ENSP00000292357:F901L	ENSP00000292357:F901L	F	+	3	2	PEAR1	155150166	0.000000	0.05858	0.128000	0.21923	0.173000	0.22820	0.016000	0.13377	2.584000	0.87258	0.563000	0.77884	TTC		PASS	0.577	PEAR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098937.2	NM_001080471		69	46	69	46	---	---	---	---
LRRC71	149499	broad.mit.edu	37	1	156902245	156902245	+	Missense_Mutation	SNP	G	G	A			TCGA-66-2756-01A-01D-1522-08	TCGA-66-2756-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	472c95e6-eccb-4988-be16-fdace73b2ed8	ff4f5936-f847-42ad-aedf-6a6a7fff6002	g.chr1:156902245G>A	ENST00000337428.7	+	14	1625	c.1471G>A	c.(1471-1473)Ggc>Agc	p.G491S	ARHGEF11_ENST00000487682.1_5'Flank|LRRC71_ENST00000490146.1_3'UTR	NM_144702.2	NP_653303.2	Q8N4P6	LRC71_HUMAN	leucine rich repeat containing 71	491								p.G491S(1)		endometrium(2)|large_intestine(3)|lung(5)|ovary(1)|stomach(1)	12						GGGGCTGGAGGGCTTCCTCGC	0.602																																						uc001fqm.2																			1	Substitution - Missense(1)		lung(1)		0						c.(1471-1473)GGC>AGC		hypothetical protein LOC149499							47.0	56.0	53.0					1																	156902245		2160	4255	6415	SO:0001583	missense	149499							g.chr1:156902245G>A	BC033790	CCDS44249.1	1q23.1	2011-02-14	2011-02-14	2011-02-14	ENSG00000160838	ENSG00000160838			26556	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 92"""	C1orf92		14702039	Standard	NM_144702		Approved	FLJ32884	uc001fqm.2	Q8N4P6	OTTHUMG00000041298	ENST00000337428.7:c.1471G>A	1.37:g.156902245G>A	ENSP00000336661:p.Gly491Ser					C1orf92_uc001fql.2_Missense_Mutation_p.G277S	p.G491S	NM_144702	NP_653303	Q8N4P6	LRC71_HUMAN			14	1643	+	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)		491					Q96M24	Missense_Mutation	SNP	ENST00000337428.7	37	c.1471G>A	CCDS44249.1	.	.	.	.	.	.	.	.	.	.	G	6.143	0.394523	0.11638	.	.	ENSG00000160838	ENST00000337428	T	0.51071	0.72	5.01	4.1	0.47936	.	0.569424	0.15892	N	0.239531	T	0.17492	0.0420	L	0.41236	1.265	0.29553	N	0.851203	B;B	0.16396	0.008;0.017	B;B	0.14578	0.005;0.011	T	0.12400	-1.0549	10	0.15952	T	0.53	-8.6176	10.646	0.45621	0.0898:0.0:0.9102:0.0	.	491;277	Q8N4P6;Q8N4P6-2	LRC71_HUMAN;.	S	491	ENSP00000336661:G491S	ENSP00000336661:G491S	G	+	1	0	LRRC71	155168869	1.000000	0.71417	0.999000	0.59377	0.359000	0.29487	2.283000	0.43470	1.326000	0.45319	0.563000	0.77884	GGC		PASS	0.602	LRRC71-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098961.1	NM_144702		8	56	8	56	---	---	---	---
FCRL5	83416	broad.mit.edu	37	1	157491042	157491042	+	Silent	SNP	C	C	A			TCGA-66-2756-01A-01D-1522-08	TCGA-66-2756-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	472c95e6-eccb-4988-be16-fdace73b2ed8	ff4f5936-f847-42ad-aedf-6a6a7fff6002	g.chr1:157491042C>A	ENST00000361835.3	-	11	2437	c.2280G>T	c.(2278-2280)ggG>ggT	p.G760G	FCRL5_ENST00000356953.4_Silent_p.G760G|FCRL5_ENST00000461387.1_5'UTR	NM_001195388.1|NM_031281.2	NP_001182317.1|NP_112571.2	Q96RD9	FCRL5_HUMAN	Fc receptor-like 5	760	Ig-like C2-type 8.				negative regulation of B cell receptor signaling pathway (GO:0050859)|negative regulation of release of sequestered calcium ion into cytosol (GO:0051280)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)		p.G760G(1)		breast(5)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(45)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	85	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.231)				CAGCATGGGTCCCGGGAGCCC	0.537																																						uc001fqu.2																			1	Substitution - coding silent(1)		lung(1)	ovary(3)|breast(2)|central_nervous_system(1)	6						c.(2278-2280)GGG>GGT		Fc receptor-like 5							32.0	36.0	35.0					1																	157491042		2203	4300	6503	SO:0001819	synonymous_variant	83416					integral to membrane|plasma membrane	receptor activity	g.chr1:157491042C>A	AF369794	CCDS1165.1	1q21	2013-01-11			ENSG00000143297	ENSG00000143297		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	18508	protein-coding gene	gene with protein product		605877				11027651, 11290337	Standard	NM_031281		Approved	FCRH5, IRTA2, BXMAS1, CD307e	uc009wsm.3	Q96RD9	OTTHUMG00000017481	ENST00000361835.3:c.2280G>T	1.37:g.157491042C>A						FCRL5_uc009wsm.2_Silent_p.G760G	p.G760G	NM_031281	NP_112571	Q96RD9	FCRL5_HUMAN			11	2438	-	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.231)	760			Extracellular (Potential).|Ig-like C2-type 8.		A0N0M2|B7WNT9|B7WP94|Q495Q2|Q495Q4|Q5VYK9|Q6UY46	Silent	SNP	ENST00000361835.3	37	c.2280G>T	CCDS1165.1																																																																																				PASS	0.537	FCRL5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000046263.1	NM_031281		19	82	19	82	---	---	---	---
OR10K1	391109	broad.mit.edu	37	1	158435624	158435624	+	Silent	SNP	C	C	A			TCGA-66-2756-01A-01D-1522-08	TCGA-66-2756-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	472c95e6-eccb-4988-be16-fdace73b2ed8	ff4f5936-f847-42ad-aedf-6a6a7fff6002	g.chr1:158435624C>A	ENST00000289451.2	+	1	353	c.273C>A	c.(271-273)acC>acA	p.T91T		NM_001004473.1	NP_001004473.1	Q8NGX5	O10K1_HUMAN	olfactory receptor, family 10, subfamily K, member 1	91						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.T91T(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	27	all_hematologic(112;0.0378)					AGAAGAAGACCATTTCTTTCC	0.483																																						uc010pij.1																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(271-273)ACC>ACA		olfactory receptor, family 10, subfamily K,							192.0	187.0	189.0					1																	158435624		2203	4298	6501	SO:0001819	synonymous_variant	391109				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:158435624C>A	AP002532	CCDS30897.1	1q23.1	2012-08-09			ENSG00000173285	ENSG00000173285		"""GPCR / Class A : Olfactory receptors"""	14693	protein-coding gene	gene with protein product							Standard	NM_001004473		Approved		uc010pij.2	Q8NGX5	OTTHUMG00000017517	ENST00000289451.2:c.273C>A	1.37:g.158435624C>A							p.T91T	NM_001004473	NP_001004473	Q8NGX5	O10K1_HUMAN			1	273	+	all_hematologic(112;0.0378)		91			Extracellular (Potential).		Q6IFS2	Silent	SNP	ENST00000289451.2	37	c.273C>A	CCDS30897.1																																																																																				PASS	0.483	OR10K1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046367.1			60	339	60	339	---	---	---	---
OR6N1	128372	broad.mit.edu	37	1	158736095	158736095	+	Silent	SNP	G	G	A	rs375506841		TCGA-66-2756-01A-01D-1522-08	TCGA-66-2756-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	472c95e6-eccb-4988-be16-fdace73b2ed8	ff4f5936-f847-42ad-aedf-6a6a7fff6002	g.chr1:158736095G>A	ENST00000335094.2	-	1	397	c.378C>T	c.(376-378)atC>atT	p.I126I		NM_001005185.1	NP_001005185.1	Q8NGY5	OR6N1_HUMAN	olfactory receptor, family 6, subfamily N, member 1	126						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.I126I(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(22)|ovary(1)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	54	all_hematologic(112;0.0378)					GGGGCCGGCAGATGGCTAAAT	0.527																																						uc010piq.1																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(376-378)ATC>ATT		olfactory receptor, family 6, subfamily N,		G		0,4406		0,0,2203	44.0	49.0	47.0		378	2.2	1.0	1		47	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	OR6N1	NM_001005185.1		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		126/313	158736095	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	128372				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:158736095G>A	BK004199	CCDS30905.1	1q23.1	2012-08-09			ENSG00000197403	ENSG00000197403		"""GPCR / Class A : Olfactory receptors"""	15034	protein-coding gene	gene with protein product							Standard	NM_001005185		Approved		uc010piq.2	Q8NGY5	OTTHUMG00000022774	ENST00000335094.2:c.378C>T	1.37:g.158736095G>A							p.I126I	NM_001005185	NP_001005185	Q8NGY5	OR6N1_HUMAN			1	378	-	all_hematologic(112;0.0378)		126			Cytoplasmic (Potential).		Q5VUU8|Q96R35	Silent	SNP	ENST00000335094.2	37	c.378C>T	CCDS30905.1																																																																																				PASS	0.527	OR6N1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059067.1	NM_001005185		12	49	12	49	---	---	---	---
CD84	8832	broad.mit.edu	37	1	160535366	160535366	+	Silent	SNP	G	G	C			TCGA-66-2756-01A-01D-1522-08	TCGA-66-2756-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	472c95e6-eccb-4988-be16-fdace73b2ed8	ff4f5936-f847-42ad-aedf-6a6a7fff6002	g.chr1:160535366G>C	ENST00000311224.4	-	2	282	c.216C>G	c.(214-216)ccC>ccG	p.P72P	CD84_ENST00000368047.3_5'UTR|RP11-528G1.2_ENST00000446952.1_RNA|CD84_ENST00000368051.3_Silent_p.P72P|CD84_ENST00000368048.3_Silent_p.P72P|CD84_ENST00000368054.3_Silent_p.P72P|CD84_ENST00000534968.1_Intron	NM_001184879.1	NP_001171808.1	Q9UIB8	SLAF5_HUMAN	CD84 molecule	72	Ig-like V-type.				blood coagulation (GO:0007596)|defense response (GO:0006952)|homophilic cell adhesion (GO:0007156)|leukocyte migration (GO:0050900)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)	p.P72P(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)|skin(1)	24	all_cancers(52;3.62e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.0175)			CAGTAACTACGGGTGCTGTTT	0.433																																						uc001fwh.3																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|central_nervous_system(1)|skin(1)	4						c.(214-216)CCC>CCG		CD84 molecule							204.0	189.0	194.0					1																	160535366		2203	4300	6503	SO:0001819	synonymous_variant	8832				blood coagulation|defense response|homophilic cell adhesion|leukocyte migration	integral to plasma membrane	receptor activity	g.chr1:160535366G>C	AF054816	CCDS1206.1, CCDS53395.1, CCDS53396.1, CCDS53397.1	1q24	2013-01-11	2006-03-31		ENSG00000066294	ENSG00000066294		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	1704	protein-coding gene	gene with protein product		604513	"""CD84 antigen (leukocyte antigen)"", ""CD84 molecule """			9310491	Standard	NM_003874		Approved	SLAMF5, hCD84, mCD84	uc001fwh.4	Q9UIB8	OTTHUMG00000022788	ENST00000311224.4:c.216C>G	1.37:g.160535366G>C						CD84_uc001fwf.3_Silent_p.P72P|CD84_uc001fwg.3_Silent_p.P72P|CD84_uc009wtn.2_Silent_p.P72P|CD84_uc001fwi.3_Intron|CD84_uc001fwj.2_Silent_p.P72P|CD84_uc001fwk.2_Silent_p.P72P	p.P72P	NM_003874	NP_003865	Q9UIB8	SLAF5_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.0175)		2	240	-	all_cancers(52;3.62e-17)|all_hematologic(112;0.093)		72			Extracellular (Potential).		B2R8T1|B7Z3R8|O15430|O95266|O95660|Q5H9R1|Q6FHA8|Q8WLP1|Q8WWI8|Q9UF04|Q9UIB6|Q9UIB7|Q9UIT7	Silent	SNP	ENST00000311224.4	37	c.216C>G	CCDS53396.1																																																																																				PASS	0.433	CD84-003	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000059092.1	NM_003874		278	176	278	176	---	---	---	---
C1orf192	257177	broad.mit.edu	37	1	161336228	161336228	+	Splice_Site	SNP	C	C	A			TCGA-66-2756-01A-01D-1522-08	TCGA-66-2756-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	472c95e6-eccb-4988-be16-fdace73b2ed8	ff4f5936-f847-42ad-aedf-6a6a7fff6002	g.chr1:161336228C>A	ENST00000367974.1	-	2	96		c.e2+1		RP11-122G18.5_ENST00000437833.2_lincRNA	NM_001013625.2	NP_001013647.2	Q5VTH2	CA192_HUMAN	chromosome 1 open reading frame 192									p.?(1)		endometrium(1)|large_intestine(3)|lung(5)|prostate(1)	10	all_cancers(52;4.64e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00376)			ACATGGAATACCTCTTTTGTT	0.433																																						uc001gal.2																			1	Unknown(1)		lung(1)		0						c.e2+1		hypothetical protein LOC257177							277.0	240.0	252.0					1																	161336228		2203	4300	6503	SO:0001630	splice_region_variant	257177							g.chr1:161336228C>A		CCDS30921.1	1q23.3	2014-02-21			ENSG00000188931	ENSG00000188931			32325	protein-coding gene	gene with protein product							Standard	NM_001013625		Approved	Flattop, Fltp	uc001gal.4	Q5VTH2	OTTHUMG00000034462	ENST00000367974.1:c.90+1G>T	1.37:g.161336228C>A							p.E30_splice	NM_001013625	NP_001013647	Q5VTH2	CA192_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.00376)		2	96	-	all_cancers(52;4.64e-17)|all_hematologic(112;0.093)								Splice_Site	SNP	ENST00000367974.1	37	c.90_splice	CCDS30921.1	.	.	.	.	.	.	.	.	.	.	c	16.01	3.000252	0.54147	.	.	ENSG00000188931	ENST00000367974	.	.	.	4.59	4.59	0.56863	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.2588	0.73606	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	C1orf192	159602852	1.000000	0.71417	0.998000	0.56505	0.739000	0.42172	4.164000	0.58190	2.546000	0.85860	0.467000	0.42956	.		PASS	0.433	C1orf192-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083309.1	NM_001013625	Intron	13	422	13	422	---	---	---	---
POU2F1	5451	broad.mit.edu	37	1	167370723	167370723	+	Silent	SNP	A	A	G			TCGA-66-2756-01A-01D-1522-08	TCGA-66-2756-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	472c95e6-eccb-4988-be16-fdace73b2ed8	ff4f5936-f847-42ad-aedf-6a6a7fff6002	g.chr1:167370723A>G	ENST00000541643.3	+	14	1578	c.1416A>G	c.(1414-1416)gcA>gcG	p.A472A	POU2F1_ENST00000420254.3_Silent_p.A472A|POU2F1_ENST00000429375.2_Silent_p.A432A|POU2F1_ENST00000367865.1_3'UTR|POU2F1_ENST00000367862.5_Silent_p.A484A|POU2F1_ENST00000367866.2_Silent_p.A495A			P14859	PO2F1_HUMAN	POU class 2 homeobox 1	472					gene expression (GO:0010467)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription from RNA polymerase III promoter (GO:0006383)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.A472A(1)|p.A495A(1)		breast(2)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(3)|liver(2)|lung(7)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	30						CTAGCAGTGCAGCAACTACCC	0.488											OREG0013970	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc001gec.2																			2	Substitution - coding silent(2)		lung(2)	central_nervous_system(2)|skin(2)|breast(1)	5						c.(1414-1416)GCA>GCG		POU class 2 homeobox 1							130.0	97.0	109.0					1																	167370723		2203	4300	6503	SO:0001819	synonymous_variant	5451				negative regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter	nucleoplasm	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr1:167370723A>G	BC001664	CCDS1259.1, CCDS1259.2, CCDS55655.1, CCDS55656.1	1q24.2	2011-06-20	2007-07-13		ENSG00000143190	ENSG00000143190		"""Homeoboxes / POU class"""	9212	protein-coding gene	gene with protein product		164175	"""POU domain class 2, transcription factor 1"""	OTF1		1887216	Standard	NM_002697		Approved	OCT1	uc001gee.3	P14859	OTTHUMG00000034436	ENST00000541643.3:c.1416A>G	1.37:g.167370723A>G			OREG0013970	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1861	POU2F1_uc001ged.2_Silent_p.A470A|POU2F1_uc001gee.2_Silent_p.A472A|POU2F1_uc010plh.1_Silent_p.A409A|POU2F1_uc001gef.2_Silent_p.A484A|POU2F1_uc001geg.2_Silent_p.A370A|POU2F1_uc009wvg.1_Intron	p.A472A	NM_002697	NP_002688	P14859	PO2F1_HUMAN			14	1578	+			472					B1AL91|B1AL93|B4E029|J3KP77|Q5TBT7|Q6PK46|Q8NEU9|Q9BPV1	Silent	SNP	ENST00000541643.3	37	c.1416A>G																																																																																					PASS	0.488	POU2F1-203	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_002697		8	49	8	49	---	---	---	---
XCL1	6375	broad.mit.edu	37	1	168549299	168549300	+	Splice_Site	DNP	AG	AG	TT			TCGA-66-2756-01A-01D-1522-08	TCGA-66-2756-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	472c95e6-eccb-4988-be16-fdace73b2ed8	ff4f5936-f847-42ad-aedf-6a6a7fff6002	g.chr1:168549299_168549300AG>TT	ENST00000367818.3	+	2	226		c.e2-1			NM_002995.2	NP_002986.1	P47992	XCL1_HUMAN	chemokine (C motif) ligand 1						cell-cell signaling (GO:0007267)|cellular response to interleukin-4 (GO:0071353)|cellular response to transforming growth factor beta stimulus (GO:0071560)|immune response (GO:0006955)|mature natural killer cell chemotaxis (GO:0035782)|negative regulation of CD4-positive, alpha-beta T cell proliferation (GO:2000562)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of interleukin-2 production (GO:0032703)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of T cell cytokine production (GO:0002725)|negative regulation of T-helper 1 cell activation (GO:2000518)|negative regulation of T-helper 1 type immune response (GO:0002826)|negative regulation of transcription, DNA-templated (GO:0045892)|neutrophil chemotaxis (GO:0030593)|positive regulation of B cell chemotaxis (GO:2000538)|positive regulation of CD4-positive, alpha-beta T cell proliferation (GO:2000563)|positive regulation of CD8-positive, alpha-beta T cell proliferation (GO:2000566)|positive regulation of granzyme A production (GO:2000513)|positive regulation of granzyme B production (GO:0071663)|positive regulation of immunoglobulin production in mucosal tissue (GO:2000558)|positive regulation of interleukin-10 production (GO:0032733)|positive regulation of leukocyte chemotaxis (GO:0002690)|positive regulation of natural killer cell chemotaxis (GO:2000503)|positive regulation of neutrophil chemotaxis (GO:0090023)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|positive regulation of T cell chemotaxis (GO:0010820)|positive regulation of T cell cytokine production (GO:0002726)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|positive regulation of T-helper 1 cell cytokine production (GO:2000556)|positive regulation of T-helper 2 cell cytokine production (GO:2000553)|positive regulation of thymocyte migration (GO:2000412)|positive regulation of transforming growth factor beta production (GO:0071636)|regulation of inflammatory response (GO:0050727)|release of sequestered calcium ion into cytosol (GO:0051209)|response to virus (GO:0009615)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	chemokine activity (GO:0008009)|chemokine receptor binding (GO:0042379)|protein homodimerization activity (GO:0042803)	p.?(3)		kidney(2)|lung(7)|upper_aerodigestive_tract(1)	10	all_hematologic(923;0.208)					TTTCCTCACCAGGTGTAGGGAG	0.421																																						uc001gfo.1																			3	Unknown(3)		lung(3)		0						c.e2-2|c.e2-1		chemokine (C motif) ligand 1																																				SO:0001630	splice_region_variant	6375				CD4-positive, alpha-beta T cell proliferation|CD8-positive, alpha-beta T cell proliferation|cell-cell signaling|cellular response to interleukin-4|cellular response to transforming growth factor beta stimulus|immunoglobulin production in mucosal tissue|lymphocyte chemotaxis|negative regulation of interferon-gamma production|negative regulation of interleukin-2 production|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of T cell cytokine production|negative regulation of T-helper 1 cell activation|negative regulation of transcription, DNA-dependent|neutrophil chemotaxis|positive regulation of activated T cell proliferation|positive regulation of B cell chemotaxis|positive regulation of granzyme A production|positive regulation of granzyme B production|positive regulation of interleukin-10 production|positive regulation of natural killer cell chemotaxis|positive regulation of neutrophil chemotaxis|positive regulation of release of sequestered calcium ion into cytosol|positive regulation of T cell chemotaxis|positive regulation of T cell cytokine production|positive regulation of T cell mediated cytotoxicity|positive regulation of thymocyte migration|positive regulation of transforming growth factor-beta production|regulation of inflammatory response|release of sequestered calcium ion into cytosol|response to virus|T-helper 1 cell cytokine production|T-helper 2 cell cytokine production	extracellular space	chemokine activity|protein homodimerization activity	g.chr1:168549299A>T|g.chr1:168549300G>T	D43768	CCDS1274.1	1q24.2	2014-01-30	2002-08-22	2002-08-23	ENSG00000143184	ENSG00000143184		"""Endogenous ligands"""	10645	protein-coding gene	gene with protein product		600250	"""small inducible cytokine subfamily C, member 1 (lymphotactin)"""	LTN, SCYC1		7602097, 7875320	Standard	NM_002995		Approved	LPTN, ATAC, SCM-1a, SCM-1, lymphotactin	uc001gfo.2	P47992	OTTHUMG00000034548	Exception_encountered	1.37:g.168549299_168549300delinsTT							p.G21_splice	NM_002995	NP_002986	P47992	XCL1_HUMAN			2	82	+	all_hematologic(923;0.208)							Q52MA8	Splice_Site	SNP	ENST00000367818.3	37	c.62_splice	CCDS1274.1																																																																																				PASS	0.421	XCL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083612.1	NM_002995	Intron	99	46	99	46	---	---	---	---
PAPPA2	60676	broad.mit.edu	37	1	176525531	176525531	+	Nonsense_Mutation	SNP	G	G	T			TCGA-66-2756-01A-01D-1522-08	TCGA-66-2756-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	472c95e6-eccb-4988-be16-fdace73b2ed8	ff4f5936-f847-42ad-aedf-6a6a7fff6002	g.chr1:176525531G>T	ENST00000367662.3	+	2	1237	c.73G>T	c.(73-75)Gag>Tag	p.E25*	PAPPA2_ENST00000367661.3_Nonsense_Mutation_p.E25*	NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	25					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.E25*(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						TGCCAACTCTGAGCTGGGCTG	0.517																																						uc001gkz.2																			2	Substitution - Nonsense(2)		lung(2)	ovary(7)|central_nervous_system(5)|skin(2)|lung(1)|breast(1)	16						c.(73-75)GAG>TAG		pappalysin 2 isoform 1							98.0	99.0	99.0					1																	176525531		2016	4197	6213	SO:0001587	stop_gained	60676				cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding	g.chr1:176525531G>T	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.73G>T	1.37:g.176525531G>T	ENSP00000356634:p.Glu25*					PAPPA2_uc001gky.1_Nonsense_Mutation_p.E25*|PAPPA2_uc009www.2_RNA	p.E25*	NM_020318	NP_064714	Q9BXP8	PAPP2_HUMAN			2	1237	+			25					A9Z1Y8|Q96PH7|Q96PH8|Q9H4C9	Nonsense_Mutation	SNP	ENST00000367662.3	37	c.73G>T	CCDS41438.1	.	.	.	.	.	.	.	.	.	.	G	46	12.096433	0.99635	.	.	ENSG00000116183	ENST00000367662;ENST00000367661	.	.	.	4.82	3.89	0.44902	.	0.093277	0.36628	U	0.002488	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	-19.6942	9.4373	0.38646	0.1012:0.0:0.8988:0.0	.	.	.	.	X	25	.	ENSP00000356633:E25X	E	+	1	0	PAPPA2	174792154	0.998000	0.40836	0.780000	0.31762	0.873000	0.50193	3.422000	0.52749	1.006000	0.39211	0.561000	0.74099	GAG		PASS	0.517	PAPPA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084763.1			183	90	183	90	---	---	---	---
PAPPA2	60676	broad.mit.edu	37	1	176661310	176661310	+	Missense_Mutation	SNP	A	A	T			TCGA-66-2756-01A-01D-1522-08	TCGA-66-2756-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	472c95e6-eccb-4988-be16-fdace73b2ed8	ff4f5936-f847-42ad-aedf-6a6a7fff6002	g.chr1:176661310A>T	ENST00000367662.3	+	6	3644	c.2480A>T	c.(2479-2481)cAt>cTt	p.H827L		NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	827					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.H827L(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						GCCCGAATGCATTGCTATTTG	0.483											OREG0014001	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc001gkz.2																			1	Substitution - Missense(1)		lung(1)	ovary(7)|central_nervous_system(5)|skin(2)|lung(1)|breast(1)	16						c.(2479-2481)CAT>CTT		pappalysin 2 isoform 1							150.0	151.0	151.0					1																	176661310		2031	4186	6217	SO:0001583	missense	60676				cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding	g.chr1:176661310A>T	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.2480A>T	1.37:g.176661310A>T	ENSP00000356634:p.His827Leu		OREG0014001	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1932	PAPPA2_uc009www.2_RNA	p.H827L	NM_020318	NP_064714	Q9BXP8	PAPP2_HUMAN			6	3644	+			827					A9Z1Y8|Q96PH7|Q96PH8|Q9H4C9	Missense_Mutation	SNP	ENST00000367662.3	37	c.2480A>T	CCDS41438.1	.	.	.	.	.	.	.	.	.	.	A	34	5.369793	0.95900	.	.	ENSG00000116183	ENST00000367662	T	0.80033	-1.33	5.81	5.81	0.92471	Peptidase M43, pregnancy-associated plasma-A (1);	0.000000	0.85682	D	0.000000	D	0.88351	0.6413	M	0.64676	1.99	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.89392	0.3689	10	0.87932	D	0	-20.5217	15.8314	0.78757	1.0:0.0:0.0:0.0	.	827	Q9BXP8	PAPP2_HUMAN	L	827	ENSP00000356634:H827L	ENSP00000356634:H827L	H	+	2	0	PAPPA2	174927933	1.000000	0.71417	0.998000	0.56505	0.998000	0.95712	9.168000	0.94781	2.217000	0.71921	0.533000	0.62120	CAT		PASS	0.483	PAPPA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084763.1			49	290	49	290	---	---	---	---
KIAA1614	57710	broad.mit.edu	37	1	180904462	180904462	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2756-01A-01D-1522-08	TCGA-66-2756-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	472c95e6-eccb-4988-be16-fdace73b2ed8	ff4f5936-f847-42ad-aedf-6a6a7fff6002	g.chr1:180904462C>T	ENST00000367588.4	+	5	1472	c.1417C>T	c.(1417-1419)Cgc>Tgc	p.R473C	KIAA1614_ENST00000367587.1_Missense_Mutation_p.R94C	NM_020950.1	NP_066001.1	Q5VZ46	K1614_HUMAN	KIAA1614	473								p.R473C(1)		NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(12)|ovary(5)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	33						GCAGCGCCAGCGCCAGGTGCT	0.731																																						uc001gok.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|skin(1)	4						c.(1417-1419)CGC>TGC		hypothetical protein LOC57710							5.0	8.0	7.0					1																	180904462		1897	4016	5913	SO:0001583	missense	57710							g.chr1:180904462C>T	AB046834	CCDS41442.1	1q25.3	2008-02-05			ENSG00000135835	ENSG00000135835			29327	protein-coding gene	gene with protein product							Standard	NM_020950		Approved		uc001gok.2	Q5VZ46	OTTHUMG00000035183	ENST00000367588.4:c.1417C>T	1.37:g.180904462C>T	ENSP00000356560:p.Arg473Cys					KIAA1614_uc001gol.1_Missense_Mutation_p.R94C|KIAA1614_uc001gom.1_Intron	p.R473C	NM_020950	NP_066001	Q5VZ46	K1614_HUMAN			5	1484	+			473					Q5VZ45|Q9HCF8	Missense_Mutation	SNP	ENST00000367588.4	37	c.1417C>T	CCDS41442.1	.	.	.	.	.	.	.	.	.	.	C	19.02	3.744950	0.69418	.	.	ENSG00000135835	ENST00000367588;ENST00000367587	T;T	0.35973	1.85;1.28	4.83	3.78	0.43462	.	0.122356	0.32593	N	0.005881	T	0.51652	0.1687	L	0.58101	1.795	0.28169	N	0.928648	D	0.89917	1.0	D	0.79108	0.992	T	0.64050	-0.6498	9	0.87932	D	0	-20.5245	9.4138	0.38507	0.3174:0.6826:0.0:0.0	.	473	Q5VZ46	K1614_HUMAN	C	473;94	ENSP00000356560:R473C;ENSP00000356559:R94C	ENSP00000356559:R94C	R	+	1	0	KIAA1614	179171085	0.968000	0.33430	1.000000	0.80357	0.697000	0.40408	1.061000	0.30542	2.383000	0.81215	0.457000	0.33378	CGC		PASS	0.731	KIAA1614-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000085151.1	XM_046531		5	5	5	5	---	---	---	---
CACNA1E	777	broad.mit.edu	37	1	181701923	181701923	+	Missense_Mutation	SNP	G	G	A			TCGA-66-2756-01A-01D-1522-08	TCGA-66-2756-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	472c95e6-eccb-4988-be16-fdace73b2ed8	ff4f5936-f847-42ad-aedf-6a6a7fff6002	g.chr1:181701923G>A	ENST00000367573.2	+	20	2701	c.2701G>A	c.(2701-2703)Gga>Aga	p.G901R	CACNA1E_ENST00000358338.5_Missense_Mutation_p.G833R|CACNA1E_ENST00000367570.1_Missense_Mutation_p.G901R|CACNA1E_ENST00000367567.4_Missense_Mutation_p.G508R|CACNA1E_ENST00000360108.3_Missense_Mutation_p.G882R|CACNA1E_ENST00000357570.5_Missense_Mutation_p.G852R|CACNA1E_ENST00000526775.1_Missense_Mutation_p.G882R	NM_001205293.1	NP_001192222.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	901					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.G901R(2)		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						GGAGGCAGGGGGAGGAGAGGC	0.667																																						uc001gow.2																			2	Substitution - Missense(2)		lung(2)	ovary(3)|central_nervous_system(2)|pancreas(1)	6						c.(2701-2703)GGA>AGA		calcium channel, voltage-dependent, R type,							37.0	45.0	42.0					1																	181701923		2105	4220	6325	SO:0001583	missense	777				energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity	g.chr1:181701923G>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.2701G>A	1.37:g.181701923G>A	ENSP00000356545:p.Gly901Arg					CACNA1E_uc009wxs.2_Missense_Mutation_p.G789R|CACNA1E_uc001gox.1_Missense_Mutation_p.G127R|CACNA1E_uc009wxt.2_Missense_Mutation_p.G127R	p.G901R	NM_000721	NP_000712	Q15878	CAC1E_HUMAN			20	2866	+			901			Cytoplasmic (Potential).		B1AM12|B1AM13|B1AM14|Q14580|Q14581	Missense_Mutation	SNP	ENST00000367573.2	37	c.2701G>A	CCDS55664.1	.	.	.	.	.	.	.	.	.	.	G	13.96	2.392110	0.42410	.	.	ENSG00000198216	ENST00000367570;ENST00000526775;ENST00000357570;ENST00000358338;ENST00000367567;ENST00000360108;ENST00000367573	D;D;D;D;D;D;D	0.96300	-3.9;-3.92;-3.9;-3.93;-3.97;-3.92;-3.9	4.13	3.22	0.36961	.	1.014720	0.07849	N	0.964343	D	0.90442	0.7007	N	0.08118	0	0.37055	D	0.897777	B;B;B	0.14805	0.011;0.0;0.011	B;B;B	0.17433	0.018;0.002;0.018	T	0.80547	-0.1334	10	0.15499	T	0.54	.	12.5553	0.56250	0.0837:0.0:0.9163:0.0	.	882;901;901	Q15878-2;Q15878;Q15878-3	.;CAC1E_HUMAN;.	R	901;882;852;833;508;882;901	ENSP00000356542:G901R;ENSP00000434814:G882R;ENSP00000350183:G852R;ENSP00000351101:G833R;ENSP00000356539:G508R;ENSP00000353222:G882R;ENSP00000356545:G901R	ENSP00000350183:G852R	G	+	1	0	CACNA1E	179968546	0.654000	0.27367	0.308000	0.25141	0.649000	0.38597	1.451000	0.35145	1.337000	0.45525	0.555000	0.69702	GGA		PASS	0.667	CACNA1E-003	KNOWN	non_canonical_U12|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000090793.2	NM_000721		24	52	24	52	---	---	---	---
LAMC1	3915	broad.mit.edu	37	1	183106930	183106930	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2756-01A-01D-1522-08	TCGA-66-2756-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	472c95e6-eccb-4988-be16-fdace73b2ed8	ff4f5936-f847-42ad-aedf-6a6a7fff6002	g.chr1:183106930G>T	ENST00000258341.4	+	26	4698	c.4441G>T	c.(4441-4443)Gac>Tac	p.D1481Y	RP11-181K3.4_ENST00000457852.3_RNA	NM_002293.3	NP_002284.3	P11047	LAMC1_HUMAN	laminin, gamma 1 (formerly LAMB2)	1481	Domain II and I.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|endoderm development (GO:0007492)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|positive regulation of epithelial cell proliferation (GO:0050679)|protein complex assembly (GO:0006461)|substrate adhesion-dependent cell spreading (GO:0034446)	basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|laminin-10 complex (GO:0043259)|laminin-11 complex (GO:0043260)	extracellular matrix structural constituent (GO:0005201)|glycosphingolipid binding (GO:0043208)	p.D1481Y(1)		NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(27)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	76						AAAACAAGATGACGCTGACCA	0.398																																						uc001gpy.3																			1	Substitution - Missense(1)		lung(1)	ovary(3)|large_intestine(1)|kidney(1)	5						c.(4441-4443)GAC>TAC		laminin, gamma 1 precursor	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)						94.0	91.0	92.0					1																	183106930		2203	4300	6503	SO:0001583	missense	3915				axon guidance|cell migration|endoderm development|extracellular matrix disassembly|hemidesmosome assembly|positive regulation of epithelial cell proliferation|protein complex assembly|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	extracellular matrix structural constituent	g.chr1:183106930G>T	J03202	CCDS1351.1	1q31	2013-03-01			ENSG00000135862	ENSG00000135862		"""Laminins"""	6492	protein-coding gene	gene with protein product		150290		LAMB2		3234037	Standard	NM_002293		Approved		uc001gpy.4	P11047	OTTHUMG00000035418	ENST00000258341.4:c.4441G>T	1.37:g.183106930G>T	ENSP00000258341:p.Asp1481Tyr						p.D1481Y	NM_002293	NP_002284	P11047	LAMC1_HUMAN			26	4698	+			1481			Potential.|Domain II and I.		Q5VYE7	Missense_Mutation	SNP	ENST00000258341.4	37	c.4441G>T	CCDS1351.1	.	.	.	.	.	.	.	.	.	.	G	17.25	3.342563	0.61073	.	.	ENSG00000135862	ENST00000258341	T	0.78126	-1.15	5.64	5.64	0.86602	.	0.151014	0.64402	D	0.000013	T	0.64216	0.2578	N	0.19112	0.55	0.51233	D	0.999917	B	0.33448	0.412	B	0.28232	0.087	T	0.67891	-0.5553	10	0.66056	D	0.02	.	13.936	0.64026	0.0725:0.0:0.9275:0.0	.	1481	P11047	LAMC1_HUMAN	Y	1481	ENSP00000258341:D1481Y	ENSP00000258341:D1481Y	D	+	1	0	LAMC1	181373553	1.000000	0.71417	0.917000	0.36280	0.980000	0.70556	4.823000	0.62694	2.647000	0.89833	0.655000	0.94253	GAC		PASS	0.398	LAMC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085954.2	NM_002293		75	38	75	38	---	---	---	---
CRB1	23418	broad.mit.edu	37	1	197390270	197390270	+	Missense_Mutation	SNP	T	T	A			TCGA-66-2756-01A-01D-1522-08	TCGA-66-2756-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	472c95e6-eccb-4988-be16-fdace73b2ed8	ff4f5936-f847-42ad-aedf-6a6a7fff6002	g.chr1:197390270T>A	ENST00000367400.3	+	6	1447	c.1312T>A	c.(1312-1314)Tgt>Agt	p.C438S	CRB1_ENST00000367397.1_5'UTR|CRB1_ENST00000476483.1_3'UTR|CRB1_ENST00000543483.1_Missense_Mutation_p.C137S|CRB1_ENST00000367399.2_Missense_Mutation_p.C326S|CRB1_ENST00000535699.1_Missense_Mutation_p.C369S|CRB1_ENST00000538660.1_Missense_Mutation_p.C438S|CRB1_ENST00000544212.1_5'UTR	NM_201253.2	NP_957705.1	P82279	CRUM1_HUMAN	crumbs family member 1, photoreceptor morphogenesis associated	438	EGF-like 10; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.		C -> Y (in LCA8). {ECO:0000269|PubMed:17724218}.		cell-cell signaling (GO:0007267)|establishment or maintenance of cell polarity (GO:0007163)|eye photoreceptor cell development (GO:0042462)|plasma membrane organization (GO:0007009)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|microvillus (GO:0005902)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.C438S(1)		NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(13)|kidney(4)|large_intestine(21)|lung(58)|ovary(7)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	132						AGGAAGGGACTGTTCTGATAT	0.448																																						uc001gtz.2																			1	Substitution - Missense(1)		lung(1)	ovary(5)|skin(3)|large_intestine(1)	9						c.(1312-1314)TGT>AGT		crumbs homolog 1 precursor							159.0	142.0	148.0					1																	197390270		2203	4300	6503	SO:0001583	missense	23418				cell-cell signaling|establishment or maintenance of cell polarity	apical plasma membrane|extracellular region|integral to membrane	calcium ion binding|protein binding	g.chr1:197390270T>A		CCDS1390.1, CCDS53454.1, CCDS58052.1, CCDS58053.1	1q31-q32.1	2014-02-06	2014-02-06		ENSG00000134376	ENSG00000134376			2343	protein-coding gene	gene with protein product		604210	"""crumbs (Drosophila) homolog 1"", ""crumbs homolog 1 (Drosophila)"""	RP12		10373321, 10508521	Standard	NM_201253		Approved	LCA8	uc001gtz.3	P82279	OTTHUMG00000035663	ENST00000367400.3:c.1312T>A	1.37:g.197390270T>A	ENSP00000356370:p.Cys438Ser					CRB1_uc010poz.1_Missense_Mutation_p.C369S|CRB1_uc010ppa.1_RNA|CRB1_uc009wza.2_Missense_Mutation_p.C326S|CRB1_uc010ppb.1_Missense_Mutation_p.C438S|CRB1_uc010ppc.1_RNA|CRB1_uc010ppd.1_5'UTR|CRB1_uc001gub.1_Missense_Mutation_p.C87S	p.C438S	NM_201253	NP_957705	P82279	CRUM1_HUMAN			6	1447	+			438			Extracellular (Potential).|EGF-like 10; calcium-binding (Potential).		A2A308|B7Z5T2|B9EG71|Q5K3A6|Q5TC28|Q5VUT1|Q6N027|Q8WWY0|Q8WWY1	Missense_Mutation	SNP	ENST00000367400.3	37	c.1312T>A	CCDS1390.1	.	.	.	.	.	.	.	.	.	.	T	25.8	4.676716	0.88445	.	.	ENSG00000134376	ENST00000535699;ENST00000538660;ENST00000367400;ENST00000367399;ENST00000543483;ENST00000367401	D;D;D;D;D	0.93307	-3.2;-3.2;-3.2;-3.2;-3.2	5.57	5.57	0.84162	EGF-like calcium-binding (1);Epidermal growth factor-like, type 3 (1);	.	.	.	.	D	0.97642	0.9227	H	0.94462	3.54	0.80722	D	1	D;D;D;D;D	0.89917	0.999;0.999;0.997;1.0;1.0	D;D;D;D;D	0.91635	0.997;0.998;0.995;0.999;0.996	D	0.98824	1.0748	9	0.87932	D	0	.	15.726	0.77761	0.0:0.0:0.0:1.0	.	438;369;326;87;438	B7Z5T2;F5H0L2;P82279-3;P82279-4;P82279	.;.;.;.;CRUM1_HUMAN	S	369;438;438;326;137;87	ENSP00000438786:C369S;ENSP00000438091:C438S;ENSP00000356370:C438S;ENSP00000356369:C326S;ENSP00000439579:C137S	ENSP00000356369:C326S	C	+	1	0	CRB1	195656893	1.000000	0.71417	0.891000	0.34965	0.919000	0.55068	7.613000	0.82986	2.107000	0.64212	0.477000	0.44152	TGT		PASS	0.448	CRB1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086565.2	NM_201253		136	90	136	90	---	---	---	---
CACNA1S	779	broad.mit.edu	37	1	201044687	201044687	+	Silent	SNP	G	G	T	rs200743095		TCGA-66-2756-01A-01D-1522-08	TCGA-66-2756-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	472c95e6-eccb-4988-be16-fdace73b2ed8	ff4f5936-f847-42ad-aedf-6a6a7fff6002	g.chr1:201044687G>T	ENST00000362061.3	-	13	2110	c.1884C>A	c.(1882-1884)ggC>ggA	p.G628G	CACNA1S_ENST00000367338.3_Silent_p.G628G	NM_000069.2	NP_000060.2	Q13698	CAC1S_HUMAN	calcium channel, voltage-dependent, L type, alpha 1S subunit	628				G -> R (in Ref. 2; AAB37235). {ECO:0000305}.|YG -> SS (in Ref. 1; AAA51902). {ECO:0000305}.	axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transport (GO:0006816)|endoplasmic reticulum organization (GO:0007029)|extraocular skeletal muscle development (GO:0002074)|membrane depolarization during action potential (GO:0086010)|muscle contraction (GO:0006936)|myoblast fusion (GO:0007520)|neuromuscular junction development (GO:0007528)|skeletal muscle adaptation (GO:0043501)|skeletal muscle fiber development (GO:0048741)|skeletal system development (GO:0001501)|striated muscle contraction (GO:0006941)	cytoplasm (GO:0005737)|I band (GO:0031674)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|T-tubule (GO:0030315)|voltage-gated calcium channel complex (GO:0005891)	high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)	p.G628G(1)		NS(2)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(19)|lung(37)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	102					Amlodipine(DB00381)|Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Felodipine(DB01023)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Verapamil(DB00661)	AGGACGGCCCGCCGTAGGCCA	0.542																																						uc001gvv.2																			1	Substitution - coding silent(1)		lung(1)	ovary(3)|central_nervous_system(1)|skin(1)	5						c.(1882-1884)GGC>GGA		calcium channel, voltage-dependent, L type,	Magnesium Sulfate(DB00653)|Verapamil(DB00661)						202.0	182.0	189.0					1																	201044687		2203	4300	6503	SO:0001819	synonymous_variant	779				axon guidance	I band|T-tubule|voltage-gated calcium channel complex	high voltage-gated calcium channel activity	g.chr1:201044687G>T	L33798	CCDS1407.1	1q32	2012-03-07			ENSG00000081248	ENSG00000081248		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1397	protein-coding gene	gene with protein product		114208		HOKPP, MHS5, CACNL1A3		7916735, 16382099	Standard	NM_000069		Approved	Cav1.1, hypoPP	uc001gvv.3	Q13698	OTTHUMG00000035784	ENST00000362061.3:c.1884C>A	1.37:g.201044687G>T							p.G628G	NM_000069	NP_000060	Q13698	CAC1S_HUMAN			13	2111	-			628	YG -> SS (in Ref. 1; AAA51902).|G -> R (in Ref. 2; AAB37235).		II.|Extracellular (Potential).		A4IF51|B1ALM2|Q12896|Q13934	Silent	SNP	ENST00000362061.3	37	c.1884C>A	CCDS1407.1																																																																																				PASS	0.542	CACNA1S-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087049.1	NM_000069		82	218	82	218	---	---	---	---
IPO9	55705	broad.mit.edu	37	1	201837922	201837922	+	Missense_Mutation	SNP	G	G	A			TCGA-66-2756-01A-01D-1522-08	TCGA-66-2756-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	472c95e6-eccb-4988-be16-fdace73b2ed8	ff4f5936-f847-42ad-aedf-6a6a7fff6002	g.chr1:201837922G>A	ENST00000361565.4	+	16	2071	c.2002G>A	c.(2002-2004)Gcg>Acg	p.A668T		NM_018085.4	NP_060555.2	Q96P70	IPO9_HUMAN	importin 9	668					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.A668T(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						AGGGCTTTGTGCGGTAAGTGG	0.517																																						uc001gwz.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(2002-2004)GCG>ACG		importin 9							102.0	83.0	89.0					1																	201837922		2203	4300	6503	SO:0001583	missense	55705				protein import into nucleus	cytoplasm|nucleus	histone binding|protein transporter activity	g.chr1:201837922G>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.2002G>A	1.37:g.201837922G>A	ENSP00000354742:p.Ala668Thr						p.A668T	NM_018085	NP_060555	Q96P70	IPO9_HUMAN			16	2052	+			668					B1ASV5|Q8N1Y1|Q8N3I2|Q8NCG9|Q96SU6|Q9NW01|Q9P0A8|Q9ULM8	Missense_Mutation	SNP	ENST00000361565.4	37	c.2002G>A	CCDS1415.1	.	.	.	.	.	.	.	.	.	.	G	18.92	3.725510	0.68959	.	.	ENSG00000198700	ENST00000361565	T	0.66995	-0.24	5.97	5.97	0.96955	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.56093	0.1962	L	0.38838	1.175	0.80722	D	1	B	0.28378	0.209	B	0.21360	0.034	T	0.51505	-0.8697	10	0.15499	T	0.54	-10.4137	17.9326	0.89002	0.0:0.0:1.0:0.0	.	668	Q96P70	IPO9_HUMAN	T	668	ENSP00000354742:A668T	ENSP00000354742:A668T	A	+	1	0	IPO9	200104545	1.000000	0.71417	1.000000	0.80357	0.955000	0.61496	9.335000	0.96500	2.836000	0.97738	0.655000	0.94253	GCG		PASS	0.517	IPO9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087088.1	NM_018085		22	17	22	17	---	---	---	---
TMEM206	55248	broad.mit.edu	37	1	212583782	212583782	+	Missense_Mutation	SNP	G	G	A			TCGA-66-2756-01A-01D-1522-08	TCGA-66-2756-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	472c95e6-eccb-4988-be16-fdace73b2ed8	ff4f5936-f847-42ad-aedf-6a6a7fff6002	g.chr1:212583782G>A	ENST00000261455.4	-	2	255	c.118C>T	c.(118-120)Ccg>Tcg	p.P40S	TMEM206_ENST00000535273.1_Missense_Mutation_p.P101S|TMEM206_ENST00000471937.1_5'UTR	NM_018252.2	NP_060722.2	Q9H813	TM206_HUMAN	transmembrane protein 206	40						cell surface (GO:0009986)|integral component of membrane (GO:0016021)		p.P40S(1)		breast(1)|kidney(3)|large_intestine(4)|lung(6)|prostate(1)|skin(2)	17				all cancers(67;0.012)|OV - Ovarian serous cystadenocarcinoma(81;0.0121)|GBM - Glioblastoma multiforme(131;0.0377)|Epithelial(68;0.148)		AAGATACCCGGACCTTGGACT	0.567																																						uc001hjc.3																			1	Substitution - Missense(1)		lung(1)	breast(1)	1						c.(118-120)CCG>TCG		transmembrane protein 206							349.0	298.0	315.0					1																	212583782		2203	4300	6503	SO:0001583	missense	55248					integral to membrane		g.chr1:212583782G>A	AK024066	CCDS1504.1, CCDS55687.1	1q32.3	2008-02-05	2008-01-17	2008-01-17	ENSG00000065600	ENSG00000065600			25593	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 75"""	C1orf75		12477932	Standard	NM_018252		Approved	FLJ10874	uc010pte.2	Q9H813	OTTHUMG00000036751	ENST00000261455.4:c.118C>T	1.37:g.212583782G>A	ENSP00000261455:p.Pro40Ser					TMEM206_uc010pte.1_Missense_Mutation_p.P101S	p.P40S	NM_018252	NP_060722	Q9H813	TM206_HUMAN		all cancers(67;0.012)|OV - Ovarian serous cystadenocarcinoma(81;0.0121)|GBM - Glioblastoma multiforme(131;0.0377)|Epithelial(68;0.148)	2	286	-			40			Cytoplasmic (Potential).		B7Z4D6|Q6IA87|Q9NV85	Missense_Mutation	SNP	ENST00000261455.4	37	c.118C>T	CCDS1504.1	.	.	.	.	.	.	.	.	.	.	G	2.198	-0.383689	0.04966	.	.	ENSG00000065600	ENST00000261455;ENST00000535273	.	.	.	5.11	1.45	0.22620	.	0.792722	0.11865	N	0.521951	T	0.13927	0.0337	N	0.03608	-0.345	0.09310	N	1	B;B	0.12013	0.005;0.0	B;B	0.12156	0.007;0.0	T	0.29336	-1.0015	9	0.20046	T	0.44	-25.0735	5.1096	0.14802	0.2388:0.1731:0.5881:0.0	.	101;40	B7Z4D6;Q9H813	.;TM206_HUMAN	S	40;101	.	ENSP00000261455:P40S	P	-	1	0	TMEM206	210650405	0.179000	0.23135	0.306000	0.25113	0.393000	0.30537	0.806000	0.27126	0.454000	0.26884	0.563000	0.77884	CCG		PASS	0.567	TMEM206-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089306.1	NM_018252		407	305	407	305	---	---	---	---
VASH2	79805	broad.mit.edu	37	1	213146147	213146147	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2756-01A-01D-1522-08	TCGA-66-2756-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	472c95e6-eccb-4988-be16-fdace73b2ed8	ff4f5936-f847-42ad-aedf-6a6a7fff6002	g.chr1:213146147C>A	ENST00000517399.1	+	5	723	c.723C>A	c.(721-723)caC>caA	p.H241Q	VASH2_ENST00000366966.2_Missense_Mutation_p.H176Q|VASH2_ENST00000366967.2_Missense_Mutation_p.H137Q|VASH2_ENST00000366964.3_Missense_Mutation_p.H99Q|VASH2_ENST00000366965.2_Missense_Mutation_p.H197Q|VASH2_ENST00000366968.4_Missense_Mutation_p.H176Q|VASH2_ENST00000271776.4_3'UTR			Q86V25	VASH2_HUMAN	vasohibin 2	241					positive regulation of angiogenesis (GO:0045766)|positive regulation of endothelial cell proliferation (GO:0001938)	cytoplasm (GO:0005737)		p.H176Q(1)|p.H197Q(1)		endometrium(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	7				OV - Ovarian serous cystadenocarcinoma(81;0.00479)|all cancers(67;0.00844)|GBM - Glioblastoma multiforme(131;0.0496)|Epithelial(68;0.0986)		AATACCTGCACACAGTCAAGA	0.512																																						uc001hjy.2																			2	Substitution - Missense(2)		lung(2)		0						c.(721-723)CAC>CAA		vasohibin 2 isoform 3							123.0	108.0	113.0					1																	213146147		2203	4300	6503	SO:0001583	missense	79805				positive regulation of angiogenesis|positive regulation of endothelial cell proliferation	cytoplasm		g.chr1:213146147C>A	AK022567	CCDS1511.1, CCDS44315.1, CCDS44316.1, CCDS73026.1	1q23	2008-02-05			ENSG00000143494	ENSG00000143494			25723	protein-coding gene	gene with protein product		610471				16528006	Standard	XR_247041		Approved	FLJ12505	uc001hjw.3	Q86V25	OTTHUMG00000036925	ENST00000517399.1:c.723C>A	1.37:g.213146147C>A	ENSP00000428324:p.His241Gln					VASH2_uc001hjv.2_RNA|VASH2_uc001hjx.2_Missense_Mutation_p.H176Q|VASH2_uc010ptn.1_Missense_Mutation_p.H137Q|VASH2_uc001hjw.2_Missense_Mutation_p.H197Q	p.H241Q	NM_001136475	NP_001129947	Q86V25	VASH2_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.00479)|all cancers(67;0.00844)|GBM - Glioblastoma multiforme(131;0.0496)|Epithelial(68;0.0986)	5	927	+			241					B4DYZ5|Q2VT46|Q5VTE7|Q5VTE9|Q7Z6E3|Q8IZ24|Q9H9W5	Missense_Mutation	SNP	ENST00000517399.1	37	c.723C>A	CCDS1511.1	.	.	.	.	.	.	.	.	.	.	C	19.78	3.891066	0.72524	.	.	ENSG00000143494	ENST00000366966;ENST00000366964;ENST00000366968;ENST00000366965;ENST00000366967;ENST00000517399	.	.	.	5.26	4.35	0.52113	.	0.000000	0.85682	D	0.000000	T	0.77418	0.4127	M	0.79258	2.445	0.58432	D	0.999996	D;D	0.76494	0.999;0.999	D;D	0.85130	0.982;0.997	T	0.79754	-0.1670	9	0.87932	D	0	-18.7245	10.9591	0.47374	0.0:0.8364:0.0:0.1636	.	241;197	Q86V25;Q86V25-5	VASH2_HUMAN;.	Q	176;99;176;197;137;241	.	ENSP00000355931:H99Q	H	+	3	2	VASH2	211212770	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	3.165000	0.50778	1.347000	0.45714	0.655000	0.94253	CAC		PASS	0.512	VASH2-013	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381686.1	NM_024749		66	59	66	59	---	---	---	---
USH2A	7399	broad.mit.edu	37	1	216061815	216061815	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2756-01A-01D-1522-08	TCGA-66-2756-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	472c95e6-eccb-4988-be16-fdace73b2ed8	ff4f5936-f847-42ad-aedf-6a6a7fff6002	g.chr1:216061815C>A	ENST00000307340.3	-	41	8562	c.8176G>T	c.(8176-8178)Ggg>Tgg	p.G2726W	USH2A_ENST00000366943.2_Missense_Mutation_p.G2726W|RP5-1111A8.3_ENST00000414995.1_RNA	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	2726	Fibronectin type-III 14. {ECO:0000255|PROSITE-ProRule:PRU00316}.				hair cell differentiation (GO:0035315)|inner ear receptor cell differentiation (GO:0060113)|maintenance of organ identity (GO:0048496)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|stereocilia ankle link complex (GO:0002142)|stereocilium bundle (GO:0032421)|stereocilium membrane (GO:0060171)	collagen binding (GO:0005518)|myosin binding (GO:0017022)	p.G2726W(1)		NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		GGCTGCACCCCAGCAGGTCGT	0.498										HNSCC(13;0.011)																												uc001hku.1																			1	Substitution - Missense(1)		lung(1)	ovary(20)|upper_aerodigestive_tract(2)|skin(2)|kidney(1)|central_nervous_system(1)	26						c.(8176-8178)GGG>TGG		usherin isoform B							72.0	68.0	69.0					1																	216061815		2203	4300	6503	SO:0001583	missense	7399				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding	g.chr1:216061815C>A	AF055580	CCDS1516.1, CCDS31025.1	1q41	2013-02-11			ENSG00000042781	ENSG00000042781		"""Fibronectin type III domain containing"""	12601	protein-coding gene	gene with protein product	"""usherin"""	608400		USH2		9624053, 10729113	Standard	NM_007123		Approved	RP39	uc001hku.1	O75445	OTTHUMG00000037079	ENST00000307340.3:c.8176G>T	1.37:g.216061815C>A	ENSP00000305941:p.Gly2726Trp	HNSCC(13;0.011)					p.G2726W	NM_206933	NP_996816	O75445	USH2A_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)	41	8563	-			2726			Fibronectin type-III 14.|Extracellular (Potential).		Q5VVM9|Q6S362|Q9NS27	Missense_Mutation	SNP	ENST00000307340.3	37	c.8176G>T	CCDS31025.1	.	.	.	.	.	.	.	.	.	.	C	19.48	3.836326	0.71373	.	.	ENSG00000042781	ENST00000307340;ENST00000366943	T;T	0.54675	0.56;0.56	5.73	5.73	0.89815	Fibronectin, type III (3);Immunoglobulin-like fold (1);	0.000000	0.43579	D	0.000556	T	0.78175	0.4242	M	0.86343	2.81	0.58432	D	0.999999	D	0.89917	1.0	D	0.91635	0.999	T	0.80968	-0.1145	10	0.72032	D	0.01	.	19.8966	0.96963	0.0:1.0:0.0:0.0	.	2726	O75445	USH2A_HUMAN	W	2726	ENSP00000305941:G2726W;ENSP00000355910:G2726W	ENSP00000305941:G2726W	G	-	1	0	USH2A	214128438	0.991000	0.36638	0.220000	0.23810	0.473000	0.32948	5.382000	0.66213	2.700000	0.92200	0.655000	0.94253	GGG		PASS	0.498	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128138.1	NM_007123		74	42	74	42	---	---	---	---
USH2A	7399	broad.mit.edu	37	1	216373149	216373149	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2756-01A-01D-1522-08	TCGA-66-2756-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	472c95e6-eccb-4988-be16-fdace73b2ed8	ff4f5936-f847-42ad-aedf-6a6a7fff6002	g.chr1:216373149C>A	ENST00000307340.3	-	17	4017	c.3631G>T	c.(3631-3633)Gtt>Ttt	p.V1211F	RP5-1099E6.3_ENST00000420867.1_RNA|USH2A_ENST00000366943.2_Missense_Mutation_p.V1211F|USH2A_ENST00000366942.3_Missense_Mutation_p.V1211F	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	1211	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				hair cell differentiation (GO:0035315)|inner ear receptor cell differentiation (GO:0060113)|maintenance of organ identity (GO:0048496)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|stereocilia ankle link complex (GO:0002142)|stereocilium bundle (GO:0032421)|stereocilium membrane (GO:0060171)	collagen binding (GO:0005518)|myosin binding (GO:0017022)	p.V1211F(1)		NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		GCAAATGGAACCAGATTCCAG	0.507										HNSCC(13;0.011)																												uc001hku.1																			1	Substitution - Missense(1)		lung(1)	ovary(20)|upper_aerodigestive_tract(2)|skin(2)|kidney(1)|central_nervous_system(1)	26						c.(3631-3633)GTT>TTT		usherin isoform B							93.0	96.0	95.0					1																	216373149		2203	4300	6503	SO:0001583	missense	7399				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding	g.chr1:216373149C>A	AF055580	CCDS1516.1, CCDS31025.1	1q41	2013-02-11			ENSG00000042781	ENSG00000042781		"""Fibronectin type III domain containing"""	12601	protein-coding gene	gene with protein product	"""usherin"""	608400		USH2		9624053, 10729113	Standard	NM_007123		Approved	RP39	uc001hku.1	O75445	OTTHUMG00000037079	ENST00000307340.3:c.3631G>T	1.37:g.216373149C>A	ENSP00000305941:p.Val1211Phe	HNSCC(13;0.011)				USH2A_uc001hkv.2_Missense_Mutation_p.V1211F	p.V1211F	NM_206933	NP_996816	O75445	USH2A_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)	17	4018	-			1211			Extracellular (Potential).|Fibronectin type-III 2.		Q5VVM9|Q6S362|Q9NS27	Missense_Mutation	SNP	ENST00000307340.3	37	c.3631G>T	CCDS31025.1	.	.	.	.	.	.	.	.	.	.	C	13.39	2.223553	0.39300	.	.	ENSG00000042781	ENST00000307340;ENST00000366943;ENST00000366942	T;T;T	0.57907	0.37;0.37;0.37	5.87	-2.97	0.05530	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.765083	0.11000	N	0.610561	T	0.43255	0.1239	L	0.51422	1.61	0.19300	N	0.999979	P;P	0.36438	0.553;0.487	B;B	0.41619	0.223;0.361	T	0.43228	-0.9404	10	0.52906	T	0.07	.	3.3598	0.07182	0.103:0.248:0.4079:0.2411	.	1211;1211	O75445-2;O75445	.;USH2A_HUMAN	F	1211	ENSP00000305941:V1211F;ENSP00000355910:V1211F;ENSP00000355909:V1211F	ENSP00000305941:V1211F	V	-	1	0	USH2A	214439772	0.023000	0.18921	0.135000	0.22099	0.980000	0.70556	-0.446000	0.06837	-0.304000	0.08843	0.655000	0.94253	GTT		PASS	0.507	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128138.1	NM_007123		76	175	76	175	---	---	---	---
SPATA17	128153	broad.mit.edu	37	1	217915365	217915365	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2756-01A-01D-1522-08	TCGA-66-2756-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	472c95e6-eccb-4988-be16-fdace73b2ed8	ff4f5936-f847-42ad-aedf-6a6a7fff6002	g.chr1:217915365G>T	ENST00000366933.4	+	6	499	c.444G>T	c.(442-444)aaG>aaT	p.K148N		NM_138796.2	NP_620151.1	Q96L03	SPT17_HUMAN	spermatogenesis associated 17	148						cytoplasm (GO:0005737)		p.K148N(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)		AAGAGAAGAAGGCTAACCTCG	0.418																																						uc001hlh.1																			1	Substitution - Missense(1)		lung(1)	pancreas(1)	1						c.(442-444)AAG>AAT		spermatogenesis associated 17							141.0	130.0	134.0					1																	217915365		2203	4300	6503	SO:0001583	missense	128153					cytoplasm	calmodulin binding	g.chr1:217915365G>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.444G>T	1.37:g.217915365G>T	ENSP00000355900:p.Lys148Asn					SPATA17_uc009xdr.1_RNA|SPATA17_uc001hli.2_Missense_Mutation_p.K148N	p.K148N	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)	6	470	+			148					A5D6N2	Missense_Mutation	SNP	ENST00000366933.4	37	c.444G>T	CCDS1519.1	.	.	.	.	.	.	.	.	.	.	G	17.41	3.381553	0.61845	.	.	ENSG00000162814	ENST00000366933	T	0.50548	0.74	5.84	0.751	0.18392	.	0.166718	0.52532	D	0.000070	T	0.61311	0.2337	M	0.77820	2.39	0.25590	N	0.986709	D	0.65815	0.995	P	0.58721	0.844	T	0.58934	-0.7548	10	0.51188	T	0.08	-6.6264	12.7933	0.57547	0.3611:0.0:0.6389:0.0	.	148	Q96L03	SPT17_HUMAN	N	148	ENSP00000355900:K148N	ENSP00000355900:K148N	K	+	3	2	SPATA17	215981988	0.999000	0.42202	0.753000	0.31225	0.922000	0.55478	0.690000	0.25451	-0.075000	0.12798	-0.797000	0.03246	AAG		PASS	0.418	SPATA17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092433.2	NM_138796		109	52	109	52	---	---	---	---
RAB3GAP2	25782	broad.mit.edu	37	1	220325052	220325052	+	Missense_Mutation	SNP	T	T	G			TCGA-66-2756-01A-01D-1522-08	TCGA-66-2756-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	472c95e6-eccb-4988-be16-fdace73b2ed8	ff4f5936-f847-42ad-aedf-6a6a7fff6002	g.chr1:220325052T>G	ENST00000358951.2	-	34	4038	c.3922A>C	c.(3922-3924)Acg>Ccg	p.T1308P		NM_012414.3	NP_036546.2	Q9H2M9	RBGPR_HUMAN	RAB3 GTPase activating protein subunit 2 (non-catalytic)	1308					establishment of protein localization to endoplasmic reticulum membrane (GO:0097051)|intracellular protein transport (GO:0006886)|positive regulation of catalytic activity (GO:0043085)|positive regulation of endoplasmic reticulum tubular network organization (GO:1903373)|positive regulation of GTPase activity (GO:0043547)|positive regulation of Rab GTPase activity (GO:0032851)|regulation of GTPase activity (GO:0043087)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	enzyme activator activity (GO:0008047)|enzyme regulator activity (GO:0030234)|GTPase activator activity (GO:0005096)|protein heterodimerization activity (GO:0046982)|Rab GTPase binding (GO:0017137)	p.T1308P(1)		breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(4)|skin(1)|urinary_tract(1)	39				GBM - Glioblastoma multiforme(131;0.0443)		CTTTGCCCCGTGAGCACCAGC	0.512																																						uc010puk.1																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1						c.(3922-3924)ACG>CCG		rab3 GTPase-activating protein, non-catalytic							109.0	107.0	108.0					1																	220325052		2203	4300	6503	SO:0001583	missense	25782				intracellular protein transport	cytoplasm|soluble fraction	GTPase activator activity|protein heterodimerization activity	g.chr1:220325052T>G	AB020646	CCDS31028.1	1q41	2014-03-03			ENSG00000118873	ENSG00000118873			17168	protein-coding gene	gene with protein product		609275				15696165, 16532399, 24482476	Standard	NM_012414		Approved	RAB3-GAP150, KIAA0839, DKFZP434D245, SPG69	uc010puk.1	Q9H2M9	OTTHUMG00000037139	ENST00000358951.2:c.3922A>C	1.37:g.220325052T>G	ENSP00000351832:p.Thr1308Pro					RAB3GAP2_uc001hmf.2_RNA|RAB3GAP2_uc001hmg.2_Missense_Mutation_p.T888P|RAB3GAP2_uc001hmh.2_Missense_Mutation_p.T252P	p.T1308P	NM_012414	NP_036546	Q9H2M9	RBGPR_HUMAN		GBM - Glioblastoma multiforme(131;0.0443)	34	4086	-			1308					A6H8V0|O75872|Q9HAB0|Q9UFJ7|Q9UQ15	Missense_Mutation	SNP	ENST00000358951.2	37	c.3922A>C	CCDS31028.1	.	.	.	.	.	.	.	.	.	.	T	12.88	2.071236	0.36566	.	.	ENSG00000118873	ENST00000358951	T	0.33654	1.4	5.83	4.71	0.59529	.	0.317606	0.36591	N	0.002520	T	0.30665	0.0772	L	0.29908	0.895	0.38039	D	0.935411	P;P	0.35192	0.489;0.489	B;B	0.40375	0.327;0.327	T	0.23833	-1.0177	10	0.59425	D	0.04	.	9.5346	0.39216	0.0:0.1521:0.0:0.8479	.	1308;1308	Q9H2M9;A6H8V0	RBGPR_HUMAN;.	P	1308	ENSP00000351832:T1308P	ENSP00000351832:T1308P	T	-	1	0	RAB3GAP2	218391675	1.000000	0.71417	0.033000	0.17914	0.280000	0.26924	4.259000	0.58828	1.027000	0.39758	0.528000	0.53228	ACG		PASS	0.512	RAB3GAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090205.2	NM_012414		42	175	42	175	---	---	---	---
DISP1	84976	broad.mit.edu	37	1	223176741	223176741	+	Missense_Mutation	SNP	A	A	T			TCGA-66-2756-01A-01D-1522-08	TCGA-66-2756-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	472c95e6-eccb-4988-be16-fdace73b2ed8	ff4f5936-f847-42ad-aedf-6a6a7fff6002	g.chr1:223176741A>T	ENST00000284476.6	+	8	2166	c.2002A>T	c.(2002-2004)Act>Tct	p.T668S		NM_032890.3	NP_116279.2	Q96F81	DISP1_HUMAN	dispatched homolog 1 (Drosophila)	668					determination of left/right symmetry (GO:0007368)|diaphragm development (GO:0060539)|dorsal/ventral pattern formation (GO:0009953)|embryonic pattern specification (GO:0009880)|patched ligand maturation (GO:0007225)|peptide transport (GO:0015833)|protein homotrimerization (GO:0070207)|regulation of protein secretion (GO:0050708)|smoothened signaling pathway (GO:0007224)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)	hedgehog receptor activity (GO:0008158)|peptide transporter activity (GO:0015197)	p.T668S(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(20)|lung(25)|prostate(4)|skin(1)|stomach(1)|urinary_tract(5)	69				GBM - Glioblastoma multiforme(131;0.102)		TAATATATTCACTTGCTTCAA	0.438																																						uc001hnu.1																			1	Substitution - Missense(1)		lung(1)		0						c.(2002-2004)ACT>TCT		dispatched A							52.0	52.0	52.0					1																	223176741		2203	4299	6502	SO:0001583	missense	84976				diaphragm development|protein homotrimerization|regulation of protein secretion|smoothened signaling pathway	basolateral plasma membrane|integral to membrane	hedgehog receptor activity|peptide transporter activity	g.chr1:223176741A>T	AK056569	CCDS1536.1	1q42.12	2008-02-05			ENSG00000154309	ENSG00000154309			19711	protein-coding gene	gene with protein product		607502				10619433	Standard	NM_032890		Approved	DISPA, MGC13130, DKFZP434I0428, MGC16796	uc001hnu.2	Q96F81	OTTHUMG00000037893	ENST00000284476.6:c.2002A>T	1.37:g.223176741A>T	ENSP00000284476:p.Thr668Ser						p.T668S	NM_032890	NP_116279	Q96F81	DISP1_HUMAN		GBM - Glioblastoma multiforme(131;0.102)	8	2149	+			668					Q8N7C2|Q96I92|Q9H698|Q9H8H9|Q9UFA2	Missense_Mutation	SNP	ENST00000284476.6	37	c.2002A>T	CCDS1536.1	.	.	.	.	.	.	.	.	.	.	A	0.268	-0.994887	0.02145	.	.	ENSG00000154309	ENST00000284476	D	0.85088	-1.94	5.91	4.78	0.61160	.	0.479365	0.26899	N	0.021935	T	0.66703	0.2816	N	0.04508	-0.205	0.30611	N	0.759531	B	0.02656	0.0	B	0.04013	0.001	T	0.56836	-0.7913	10	0.09843	T	0.71	-10.208	11.7955	0.52098	0.9316:0.0:0.0684:0.0	.	668	Q96F81	DISP1_HUMAN	S	668	ENSP00000284476:T668S	ENSP00000284476:T668S	T	+	1	0	DISP1	221243364	0.455000	0.25736	0.855000	0.33649	0.977000	0.68977	1.589000	0.36644	1.058000	0.40530	0.533000	0.62120	ACT		PASS	0.438	DISP1-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092512.1	NM_032890		14	212	14	212	---	---	---	---
PARP1	142	broad.mit.edu	37	1	226567665	226567665	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2756-01A-01D-1522-08	TCGA-66-2756-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	472c95e6-eccb-4988-be16-fdace73b2ed8	ff4f5936-f847-42ad-aedf-6a6a7fff6002	g.chr1:226567665C>T	ENST00000366794.5	-	10	1644	c.1501G>A	c.(1501-1503)Gct>Act	p.A501T		NM_001618.3	NP_001609.2	P09874	PARP1_HUMAN	poly (ADP-ribose) polymerase 1	501	Automodification domain.				base-excision repair (GO:0006284)|cellular response to insulin stimulus (GO:0032869)|DNA damage response, detection of DNA damage (GO:0042769)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|gene expression (GO:0010467)|macrophage differentiation (GO:0030225)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of SMAD protein import into nucleus (GO:0060391)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription regulatory region DNA binding (GO:2000679)|protein ADP-ribosylation (GO:0006471)|protein autoprocessing (GO:0016540)|protein poly-ADP-ribosylation (GO:0070212)|regulation of growth rate (GO:0040009)|signal transduction involved in regulation of gene expression (GO:0023019)|telomere maintenance (GO:0000723)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	membrane (GO:0016020)|nuclear envelope (GO:0005635)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|NAD binding (GO:0051287)|NAD+ ADP-ribosyltransferase activity (GO:0003950)|poly(A) RNA binding (GO:0044822)|protein N-terminus binding (GO:0047485)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)	p.A501T(1)		breast(2)|endometrium(4)|kidney(4)|large_intestine(8)|lung(15)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	44	Breast(184;0.133)			GBM - Glioblastoma multiforme(131;0.0531)		GAGAGCGCAGCCCCTGACTTC	0.602								Poly(ADP-ribose) polymerase (PARP) enzymes that bind to DNA																														uc001hqd.3																			1	Substitution - Missense(1)		lung(1)	lung(3)|ovary(2)|breast(2)|skin(2)|upper_aerodigestive_tract(1)	10						c.(1501-1503)GCT>ACT	Direct_reversal_of_damage|PARP_enzymes_that_bind_to_DNA	poly (ADP-ribose) polymerase family, member 1							78.0	85.0	83.0					1																	226567665		2203	4300	6503	SO:0001583	missense	142				cellular response to insulin stimulus|protein ADP-ribosylation|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nuclear envelope|nucleolus|transcription factor complex	DNA binding|identical protein binding|NAD+ ADP-ribosyltransferase activity|protein N-terminus binding|transcription factor binding|zinc ion binding	g.chr1:226567665C>T	BC037545	CCDS1554.1	1q41-q42	2010-02-16	2008-07-28	2004-08-26	ENSG00000143799	ENSG00000143799	2.4.2.30	"""Poly (ADP-ribose) polymerases"""	270	protein-coding gene	gene with protein product		173870	"""ADP-ribosyltransferase (NAD+; poly (ADP-ribose) polymerase)"", ""poly (ADP-ribose) polymerase family, member 1"""	PPOL, ADPRT		10964595	Standard	NM_001618		Approved	PARP	uc001hqd.4	P09874	OTTHUMG00000037556	ENST00000366794.5:c.1501G>A	1.37:g.226567665C>T	ENSP00000355759:p.Ala501Thr						p.A501T	NM_001618	NP_001609	P09874	PARP1_HUMAN		GBM - Glioblastoma multiforme(131;0.0531)	10	1672	-	Breast(184;0.133)		501			Automodification domain.		B1ANJ4|Q8IUZ9	Missense_Mutation	SNP	ENST00000366794.5	37	c.1501G>A	CCDS1554.1	.	.	.	.	.	.	.	.	.	.	C	4.254	0.046210	0.08243	.	.	ENSG00000143799	ENST00000366794	T	0.09255	3.0	4.71	-2.87	0.05700	.	0.583457	0.18905	N	0.127931	T	0.05044	0.0135	L	0.34521	1.04	0.09310	N	1	B	0.28820	0.224	B	0.27076	0.076	T	0.37126	-0.9719	10	0.16896	T	0.51	.	1.5248	0.02523	0.3294:0.3637:0.1079:0.1991	.	501	P09874	PARP1_HUMAN	T	501	ENSP00000355759:A501T	ENSP00000355759:A501T	A	-	1	0	PARP1	224634288	0.000000	0.05858	0.000000	0.03702	0.016000	0.09150	-0.094000	0.11094	-0.536000	0.06298	-1.014000	0.02459	GCT		PASS	0.602	PARP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091519.1	NM_001618		10	244	10	244	---	---	---	---
ACTA1	58	broad.mit.edu	37	1	229568451	229568451	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2756-01A-01D-1522-08	TCGA-66-2756-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	472c95e6-eccb-4988-be16-fdace73b2ed8	ff4f5936-f847-42ad-aedf-6a6a7fff6002	g.chr1:229568451C>A	ENST00000366684.3	-	3	408	c.306G>T	c.(304-306)gaG>gaT	p.E102D	ACTA1_ENST00000366683.2_Missense_Mutation_p.E102D	NM_001100.3	NP_001091.1	P68133	ACTS_HUMAN	actin, alpha 1, skeletal muscle	102					cell growth (GO:0016049)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|response to extracellular stimulus (GO:0009991)|response to lithium ion (GO:0010226)|response to mechanical stimulus (GO:0009612)|response to steroid hormone (GO:0048545)|skeletal muscle fiber adaptation (GO:0043503)|skeletal muscle fiber development (GO:0048741)|skeletal muscle thin filament assembly (GO:0030240)	actin cytoskeleton (GO:0015629)|actin filament (GO:0005884)|blood microparticle (GO:0072562)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|sarcomere (GO:0030017)|stress fiber (GO:0001725)|striated muscle thin filament (GO:0005865)	ADP binding (GO:0043531)|ATP binding (GO:0005524)|myosin binding (GO:0017022)|structural constituent of cytoskeleton (GO:0005200)	p.E102D(1)		endometrium(4)|large_intestine(4)|lung(18)|prostate(1)|urinary_tract(1)	28	Breast(184;0.0858)|Ovarian(103;0.103)	Prostate(94;0.167)				GGGTGGGGTGCTCCTCGGGAG	0.582																																						uc001htm.2																			1	Substitution - Missense(1)		lung(1)		0						c.(304-306)GAG>GAT		actin, alpha 1, skeletal muscle	Dornase Alfa(DB00003)						83.0	84.0	84.0					1																	229568451		2203	4300	6503	SO:0001583	missense	58				muscle filament sliding|skeletal muscle fiber development|skeletal muscle thin filament assembly	actin filament|cytosol|stress fiber|striated muscle thin filament	ADP binding|ATP binding|myosin binding|structural constituent of cytoskeleton	g.chr1:229568451C>A	J00068	CCDS1578.1	1q42.13	2014-09-17			ENSG00000143632	ENSG00000143632			129	protein-coding gene	gene with protein product	"""nemaline myopathy type 3"""	102610		ACTA		10072583, 6865942	Standard	NM_001100		Approved	NEM3	uc001htm.3	P68133	OTTHUMG00000038006	ENST00000366684.3:c.306G>T	1.37:g.229568451C>A	ENSP00000355645:p.Glu102Asp						p.E102D	NM_001100	NP_001091	P68133	ACTS_HUMAN			3	411	-	Breast(184;0.0858)|Ovarian(103;0.103)	Prostate(94;0.167)	102					P02568|P99020|Q5T8M9	Missense_Mutation	SNP	ENST00000366684.3	37	c.306G>T	CCDS1578.1	.	.	.	.	.	.	.	.	.	.	C	12.50	1.956678	0.34565	.	.	ENSG00000143632	ENST00000366684;ENST00000308794;ENST00000366683;ENST00000342787	D;D	0.94862	-3.54;-3.54	4.54	3.63	0.41609	.	0.000000	0.85682	D	0.000000	D	0.96178	0.8754	L	0.55213	1.73	0.32535	N	0.534437	B	0.33238	0.403	D	0.63113	0.911	D	0.95533	0.8605	10	0.27082	T	0.32	.	12.3155	0.54953	0.0:0.9168:0.0:0.0832	.	102	P68133	ACTS_HUMAN	D	102	ENSP00000355645:E102D;ENSP00000355644:E102D	ENSP00000312351:E102D	E	-	3	2	ACTA1	227635074	1.000000	0.71417	1.000000	0.80357	0.956000	0.61745	2.575000	0.46025	1.145000	0.42336	0.655000	0.94253	GAG		PASS	0.582	ACTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092781.1	NM_001100		156	61	156	61	---	---	---	---
DISC1	27185	broad.mit.edu	37	1	232144658	232144658	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2756-01A-01D-1522-08	TCGA-66-2756-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	472c95e6-eccb-4988-be16-fdace73b2ed8	ff4f5936-f847-42ad-aedf-6a6a7fff6002	g.chr1:232144658G>T	ENST00000439617.2	+	11	2223	c.2170G>T	c.(2170-2172)Gac>Tac	p.D724Y	DISC1_ENST00000427560.1_3'UTR|DISC1_ENST00000537876.1_3'UTR|DISC1_ENST00000535983.1_3'UTR|DISC1_ENST00000366637.3_Missense_Mutation_p.D56Y	NM_001164537.1|NM_001164540.1|NM_018662.2	NP_001158009.1|NP_001158012.1|NP_061132.2	Q9NRI5	DISC1_HUMAN	disrupted in schizophrenia 1	724	Interaction with ATF4 and ATF5.|Necessary and sufficient for interaction with PCNT and localization at the centrosome.				canonical Wnt signaling pathway (GO:0060070)|cell proliferation in forebrain (GO:0021846)|cellular protein localization (GO:0034613)|cerebral cortex radially oriented cell migration (GO:0021799)|microtubule cytoskeleton organization (GO:0000226)|mitochondrial calcium ion homeostasis (GO:0051560)|neuron migration (GO:0001764)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of neuron projection development (GO:0010975)|regulation of synapse maturation (GO:0090128)|TOR signaling (GO:0031929)	cell junction (GO:0030054)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|microtubule (GO:0005874)|mitochondrion (GO:0005739)|postsynaptic membrane (GO:0045211)		p.D756Y(1)		breast(1)|cervix(1)|kidney(1)|large_intestine(1)|liver(2)|lung(6)|skin(2)|upper_aerodigestive_tract(1)	15		all_cancers(173;0.0208)|Prostate(94;0.0975)				GCAGATGGATGACTTAGAGGG	0.522																																						uc001huz.2																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(2170-2172)GAC>TAC		disrupted in schizophrenia 1 isoform L							70.0	70.0	70.0					1																	232144658		1943	4154	6097	SO:0001583	missense	27185				microtubule cytoskeleton organization|neuron migration|positive regulation of neuroblast proliferation|positive regulation of Wnt receptor signaling pathway|Wnt receptor signaling pathway	centrosome|microtubule	protein binding	g.chr1:232144658G>T	AF222980	CCDS31055.1, CCDS31056.1, CCDS53482.1, CCDS53483.1, CCDS53484.1, CCDS59205.1, CCDS59206.1, CCDS59207.1	1q42.1	2008-02-05			ENSG00000162946	ENSG00000162946			2888	protein-coding gene	gene with protein product		605210				10814723	Standard	NM_001164550		Approved		uc010pxh.2	Q9NRI5	OTTHUMG00000037835	ENST00000439617.2:c.2170G>T	1.37:g.232144658G>T	ENSP00000403888:p.Asp724Tyr					TSNAX-DISC1_uc010pwl.1_RNA|DISC1_uc010pxd.1_Missense_Mutation_p.D369Y|DISC1_uc010pxe.1_Missense_Mutation_p.D724Y|DISC1_uc009xfr.2_Missense_Mutation_p.D679Y|DISC1_uc010pxf.1_3'UTR|DISC1_uc010pxg.1_3'UTR|DISC1_uc010pxh.1_Missense_Mutation_p.D756Y|DISC1_uc010pxi.1_RNA|DISC1_uc010pxj.1_Missense_Mutation_p.D369Y|DISC1_uc010pxk.1_RNA|DISC1_uc010pxl.1_RNA|DISC1_uc010pxm.1_Missense_Mutation_p.D602Y|DISC1_uc010pxn.1_Missense_Mutation_p.D369Y|DISC1_uc001hva.2_Missense_Mutation_p.D724Y	p.D724Y	NM_018662	NP_061132	Q9NRI5	DISC1_HUMAN			11	2223	+		all_cancers(173;0.0208)|Prostate(94;0.0975)	724			Necessary and sufficient for interaction with PCNT and localization at the centrosome.|Interaction with ATF4 and ATF5.		A6NLH2|C4P091|C4P095|C4P0A1|C4P0A3|C4P0B3|C4P0B6|C4P0C1|C9J6D0|O75045|Q5VT44|Q5VT45|Q8IXJ0|Q8IXJ1|Q9BX19|Q9NRI3|Q9NRI4	Missense_Mutation	SNP	ENST00000439617.2	37	c.2170G>T		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	13.86|13.86	2.361751|2.361751	0.41801|0.41801	.|.	.|.	ENSG00000162946|ENSG00000162946	ENST00000439617;ENST00000366637;ENST00000366638;ENST00000532576;ENST00000427560|ENST00000422590	T|.	0.10668|.	2.85|.	4.37|4.37	2.4|2.4	0.29515|0.29515	.|.	0.846288|.	0.10246|.	N|.	0.697733|.	T|T	0.34978|0.34978	0.0916|0.0916	L|L	0.38175|0.38175	1.15|1.15	0.09310|0.09310	N|N	1|1	P;P;P;D;B;P;D|.	0.57257|.	0.946;0.938;0.946;0.978;0.384;0.873;0.979|.	P;P;P;P;P;P;P|.	0.58873|.	0.694;0.632;0.789;0.847;0.478;0.606;0.742|.	T|T	0.21075|0.21075	-1.0256|-1.0256	10|5	0.56958|.	D|.	0.05|.	-7.1594|-7.1594	7.6971|7.6971	0.28600|0.28600	0.2146:0.0:0.7854:0.0|0.2146:0.0:0.7854:0.0	.|.	756;602;756;724;602;724;724|.	C4P096;C4P094;E2QRA4;C4P098;F5H1F1;Q9NRI5-2;Q9NRI5|.	.;.;.;.;.;.;DISC1_HUMAN|.	Y|I	724;724;756;602;56|126	ENSP00000403888:D724Y|.	ENSP00000355597:D724Y|.	D|M	+|+	1|3	0|0	DISC1|DISC1	230211281|230211281	0.152000|0.152000	0.22762|0.22762	0.001000|0.001000	0.08648|0.08648	0.033000|0.033000	0.12548|0.12548	1.818000|1.818000	0.39012|0.39012	1.010000|1.010000	0.39314|0.39314	0.650000|0.650000	0.86243|0.86243	GAC|ATG		PASS	0.522	DISC1-001	KNOWN	non_canonical_conserved|basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000092351.2	NM_018662		49	14	49	14	---	---	---	---
PCNXL2	80003	broad.mit.edu	37	1	233270786	233270786	+	Silent	SNP	G	G	A			TCGA-66-2756-01A-01D-1522-08	TCGA-66-2756-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	472c95e6-eccb-4988-be16-fdace73b2ed8	ff4f5936-f847-42ad-aedf-6a6a7fff6002	g.chr1:233270786G>A	ENST00000258229.9	-	21	4044	c.3810C>T	c.(3808-3810)ttC>ttT	p.F1270F	PCNXL2_ENST00000520463.1_5'UTR|PCNXL2_ENST00000488780.2_Silent_p.F403F	NM_014801.3	NP_055616.3	A6NKB5	PCX2_HUMAN	pecanex-like 2 (Drosophila)	1270						integral component of membrane (GO:0016021)		p.F1270F(1)		NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(7)|large_intestine(19)|lung(30)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86		all_cancers(173;0.0347)|Prostate(94;0.137)				ACACCATGAAGAAATCCAGTA	0.338																																						uc001hvl.2																			1	Substitution - coding silent(1)		lung(1)	central_nervous_system(1)|pancreas(1)	2						c.(3808-3810)TTC>TTT		pecanex-like 2							88.0	86.0	86.0					1																	233270786		1817	4079	5896	SO:0001819	synonymous_variant	80003					integral to membrane		g.chr1:233270786G>A	AK055374	CCDS44335.1	1q42.2	2008-02-05	2001-11-28		ENSG00000135749	ENSG00000135749			8736	protein-coding gene	gene with protein product			"""pecanex (Drosophila)-like 2"""			12477932	Standard	NM_014801		Approved	KIAA0435, FLJ11383	uc001hvl.2	A6NKB5	OTTHUMG00000037824	ENST00000258229.9:c.3810C>T	1.37:g.233270786G>A						PCNXL2_uc001hvm.1_RNA|PCNXL2_uc009xfu.2_RNA|PCNXL2_uc001hvp.1_RNA|PCNXL2_uc009xfv.1_RNA	p.F1270F	NM_014801	NP_055616	A6NKB5	PCX2_HUMAN			21	4045	-		all_cancers(173;0.0347)|Prostate(94;0.137)	1270			Helical; (Potential).		O43162|Q5T9Z8|Q5TDF1|Q8TEP4|Q96HP9|Q9HAL8	Silent	SNP	ENST00000258229.9	37	c.3810C>T	CCDS44335.1																																																																																				PASS	0.338	PCNXL2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092480.3	NM_014801		23	149	23	149	---	---	---	---
GNG4	2786	broad.mit.edu	37	1	235747064	235747064	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2756-01A-01D-1522-08	TCGA-66-2756-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	472c95e6-eccb-4988-be16-fdace73b2ed8	ff4f5936-f847-42ad-aedf-6a6a7fff6002	g.chr1:235747064C>A	ENST00000366598.4	-	2	290	c.75G>T	c.(73-75)atG>atT	p.M25I	GNG4_ENST00000484517.1_5'UTR|GNG4_ENST00000366597.1_Missense_Mutation_p.M25I|GNG4_ENST00000450593.1_Missense_Mutation_p.M25I|GNG4_ENST00000391854.2_Missense_Mutation_p.M25I			P50150	GBG4_HUMAN	guanine nucleotide binding protein (G protein), gamma 4	25					cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of cell growth (GO:0030308)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	extracellular vesicular exosome (GO:0070062)|heterotrimeric G-protein complex (GO:0005834)|plasma membrane (GO:0005886)	signal transducer activity (GO:0004871)	p.M25I(1)		NS(1)|endometrium(2)|large_intestine(1)|lung(3)|prostate(1)	8	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00168)|Prostate(94;0.0776)|Acute lymphoblastic leukemia(190;0.23)	OV - Ovarian serous cystadenocarcinoma(106;0.000882)			TACAGGCTTCCATCTTTAGCT	0.517																																						uc001hxe.3																			1	Substitution - Missense(1)		lung(1)		0						c.(73-75)ATG>ATT		guanine nucleotide binding protein (G protein),							184.0	169.0	174.0					1																	235747064		2203	4300	6503	SO:0001583	missense	2786				cellular response to glucagon stimulus|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|negative regulation of cell growth|regulation of G-protein coupled receptor protein signaling pathway|synaptic transmission	heterotrimeric G-protein complex	signal transducer activity	g.chr1:235747064C>A	BC022485	CCDS1607.1	1q42.3	2008-02-05			ENSG00000168243	ENSG00000168243			4407	protein-coding gene	gene with protein product		604388				7665596	Standard	NM_001098721		Approved		uc001hxh.4	P50150	OTTHUMG00000040740	ENST00000366598.4:c.75G>T	1.37:g.235747064C>A	ENSP00000355557:p.Met25Ile					GNG4_uc009xfz.2_Missense_Mutation_p.M25I|GNG4_uc001hxh.3_Missense_Mutation_p.M25I	p.M25I	NM_001098722	NP_001092192	P50150	GBG4_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.000882)		3	529	-	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00168)|Prostate(94;0.0776)|Acute lymphoblastic leukemia(190;0.23)	25						Missense_Mutation	SNP	ENST00000366598.4	37	c.75G>T	CCDS1607.1	.	.	.	.	.	.	.	.	.	.	C	14.91	2.677382	0.47886	.	.	ENSG00000168243	ENST00000450593;ENST00000391854;ENST00000366598;ENST00000366597	T;T;T;T	0.20881	2.04;2.04;2.04;2.04	5.52	5.52	0.82312	G-protein gamma domain (5);	0.000000	0.85682	D	0.000000	T	0.14614	0.0353	.	.	.	0.45607	D	0.998545	B	0.09022	0.002	B	0.15052	0.012	T	0.10222	-1.0639	9	0.12766	T	0.61	-17.1837	16.3418	0.83084	0.0:1.0:0.0:0.0	.	25	P50150	GBG4_HUMAN	I	25	ENSP00000398629:M25I;ENSP00000375727:M25I;ENSP00000355557:M25I;ENSP00000355556:M25I	ENSP00000355556:M25I	M	-	3	0	GNG4	233813687	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	6.622000	0.74233	2.580000	0.87095	0.655000	0.94253	ATG		PASS	0.517	GNG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097906.1	NM_004485		192	103	192	103	---	---	---	---
RYR2	6262	broad.mit.edu	37	1	237955441	237955441	+	Missense_Mutation	SNP	C	C	A	rs199624074		TCGA-66-2756-01A-01D-1522-08	TCGA-66-2756-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	472c95e6-eccb-4988-be16-fdace73b2ed8	ff4f5936-f847-42ad-aedf-6a6a7fff6002	g.chr1:237955441C>A	ENST00000366574.2	+	94	13917	c.13600C>A	c.(13600-13602)Ccc>Acc	p.P4534T	RYR2_ENST00000542537.1_Missense_Mutation_p.P4518T|RYR2_ENST00000360064.6_Missense_Mutation_p.P4540T	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	4534					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.P4532T(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)			AAAGGAGCTCCCCACGAGAAG	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.(13600-13602)CCC>ACC		cardiac muscle ryanodine receptor							52.0	50.0	51.0					1																	237955441		1968	4162	6130	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.chr1:237955441C>A	X91869	CCDS55691.1	1q43	2014-09-17			ENSG00000198626	ENSG00000198626		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10484	protein-coding gene	gene with protein product		180902	"""arrhythmogenic right ventricular dysplasia 2"""	ARVD2		2380170, 8406504, 11159936	Standard	NM_001035		Approved	ARVC2, VTSIP	uc001hyl.1	Q92736	OTTHUMG00000039543	ENST00000366574.2:c.13600C>A	1.37:g.237955441C>A	ENSP00000355533:p.Pro4534Thr					RYR2_uc010pyb.1_5'UTR	p.P4534T	NM_001035	NP_001026	Q92736	RYR2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00606)		94	13720	+	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	4534					Q15411|Q546N8|Q5T3P2	Missense_Mutation	SNP	ENST00000366574.2	37	c.13600C>A	CCDS55691.1	.	.	.	.	.	.	.	.	.	.	C	10.16	1.273501	0.23221	.	.	ENSG00000198626	ENST00000366574;ENST00000360064;ENST00000542537	D;D;D	0.93189	-3.18;-3.18;-3.18	5.34	3.45	0.39498	Ryanodine Receptor TM 4-6 (1);	0.324918	0.24215	U	0.040484	D	0.85383	0.5684	N	0.22421	0.69	0.31776	N	0.631514	B	0.06786	0.001	B	0.08055	0.003	T	0.78086	-0.2341	10	0.12430	T	0.62	.	10.1059	0.42533	0.0:0.8445:0.0:0.1555	.	4534	Q92736	RYR2_HUMAN	T	4534;4540;4518	ENSP00000355533:P4534T;ENSP00000353174:P4540T;ENSP00000443798:P4518T	ENSP00000353174:P4540T	P	+	1	0	RYR2	236022064	0.002000	0.14202	0.897000	0.35233	0.968000	0.65278	1.200000	0.32247	1.379000	0.46325	0.650000	0.86243	CCC		PASS	0.453	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2	NM_001035		6	32	6	32	---	---	---	---
RNF144A	9781	broad.mit.edu	37	2	7154903	7154903	+	Splice_Site	SNP	G	G	C			TCGA-66-2756-01A-01D-1522-08	TCGA-66-2756-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	472c95e6-eccb-4988-be16-fdace73b2ed8	ff4f5936-f847-42ad-aedf-6a6a7fff6002	g.chr2:7154903G>C	ENST00000320892.6	+	5	743	c.301G>C	c.(301-303)Gag>Cag	p.E101Q	RNF144A_ENST00000467276.1_Intron	NM_014746.3	NP_055561.2	P50876	R144A_HUMAN	ring finger protein 144A	101					protein ubiquitination (GO:0016567)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)	p.E101Q(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(15)|ovary(1)|prostate(1)	25	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)	all_cancers(51;0.226)		OV - Ovarian serous cystadenocarcinoma(76;0.195)		ATTTGAAAGAGGTAGGTGCCT	0.363																																						uc002qys.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|kidney(1)	2						c.(301-303)GAG>CAG		ring finger protein 144							99.0	103.0	102.0					2																	7154903		2203	4300	6503	SO:0001630	splice_region_variant	9781					Golgi apparatus|integral to membrane	ligase activity|zinc ion binding	g.chr2:7154903G>C	D79983	CCDS1657.1	2p25.2	2008-02-05	2007-08-20	2007-08-20	ENSG00000151692	ENSG00000151692		"""RING-type (C3HC4) zinc fingers"""	20457	protein-coding gene	gene with protein product			"""ring finger protein 144"""	RNF144		8724849, 10431818	Standard	NM_014746		Approved	UBCE7IP4, KIAA0161	uc002qys.3	P50876	OTTHUMG00000090353	ENST00000320892.6:c.301+1G>C	2.37:g.7154903G>C						RNF144A_uc002qyt.2_Intron	p.E101Q	NM_014746	NP_055561	P50876	R144A_HUMAN		OV - Ovarian serous cystadenocarcinoma(76;0.195)	5	743	+	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)	all_cancers(51;0.226)	101			IBR-type.		D6W4Y6|Q585H5	Missense_Mutation	SNP	ENST00000320892.6	37	c.301G>C	CCDS1657.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	25.6|25.6	4.649894|4.649894	0.87958|0.87958	.|.	.|.	ENSG00000151692|ENSG00000151692	ENST00000432850|ENST00000320892;ENST00000427092	.|T	.|0.80909	.|-1.43	5.52|5.52	5.52|5.52	0.82312|0.82312	.|Zinc finger, C6HC-type (2);	0.000000|0.000000	0.85682|0.85682	D|D	0.000000|0.000000	D|D	0.89336|0.89336	0.6686|0.6686	M|M	0.75447|0.75447	2.3|2.3	0.80722|0.80722	D|D	1|1	.|D	.|0.62365	.|0.991	.|D	.|0.74023	.|0.982	D|D	0.86577|0.86577	0.1851|0.1851	6|10	.|0.30078	.|T	.|0.28	.|.	19.8125|19.8125	0.96553|0.96553	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|101	.|P50876	.|R144A_HUMAN	D|Q	96|101	.|ENSP00000321330:E101Q	.|ENSP00000321330:E101Q	E|E	+|+	3|1	2|0	RNF144A|RNF144A	7072354|7072354	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.992000|0.992000	0.81027|0.81027	8.874000|8.874000	0.92363|0.92363	2.745000|2.745000	0.94114|0.94114	0.655000|0.655000	0.94253|0.94253	GAG|GAG		PASS	0.363	RNF144A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206725.2	NM_014746	Missense_Mutation	16	130	16	130	---	---	---	---
GEN1	348654	broad.mit.edu	37	2	17941244	17941244	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2756-01A-01D-1522-08	TCGA-66-2756-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	472c95e6-eccb-4988-be16-fdace73b2ed8	ff4f5936-f847-42ad-aedf-6a6a7fff6002	g.chr2:17941244C>A	ENST00000381254.2	+	2	248	c.34C>A	c.(34-36)Cct>Act	p.P12T	SMC6_ENST00000402989.1_Intron|GEN1_ENST00000317402.7_Missense_Mutation_p.P12T	NM_001130009.1	NP_001123481.1	Q17RS7	GEN_HUMAN	GEN1 Holliday junction 5' flap endonuclease	12	N-domain.				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.P12T(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)					AATTTTGGAGCCTGTTAAGCA	0.403								Homologous recombination																														uc002rct.2																			1	Substitution - Missense(1)		lung(1)	breast(5)|kidney(1)|central_nervous_system(1)|skin(1)	8						c.(34-36)CCT>ACT	Homologous_recombination	Gen homolog 1, endonuclease							157.0	154.0	155.0					2																	17941244		2203	4300	6503	SO:0001583	missense	348654				DNA repair	nucleus	DNA binding|endonuclease activity|metal ion binding	g.chr2:17941244C>A	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.34C>A	2.37:g.17941244C>A	ENSP00000370653:p.Pro12Thr					SMC6_uc010exo.2_Intron|GEN1_uc010yjs.1_Missense_Mutation_p.P12T|GEN1_uc002rcu.2_Missense_Mutation_p.P12T	p.P12T	NM_182625	NP_872431	Q17RS7	GEN_HUMAN			2	107	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)		12			N-domain.		Q17RS9|Q6ZN37	Missense_Mutation	SNP	ENST00000381254.2	37	c.34C>A	CCDS1691.1	.	.	.	.	.	.	.	.	.	.	C	25.8	4.675239	0.88445	.	.	ENSG00000178295	ENST00000317402;ENST00000381254;ENST00000524465;ENST00000532257	T;T;T;T	0.52526	0.66;0.66;0.66;0.66	5.37	5.37	0.77165	XPG N-terminal (2);	0.000000	0.64402	D	0.000002	T	0.78071	0.4226	M	0.93550	3.43	0.58432	D	0.999995	D	0.89917	1.0	D	0.85130	0.997	T	0.83301	-0.0028	10	0.72032	D	0.01	-14.1409	19.2974	0.94128	0.0:1.0:0.0:0.0	.	12	Q17RS7	GEN_HUMAN	T	12	ENSP00000318977:P12T;ENSP00000370653:P12T;ENSP00000435143:P12T;ENSP00000433180:P12T	ENSP00000318977:P12T	P	+	1	0	GEN1	17804725	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	7.264000	0.78432	2.802000	0.96397	0.650000	0.86243	CCT		PASS	0.403	GEN1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241661.2	NM_182625		215	164	215	164	---	---	---	---
GCKR	2646	broad.mit.edu	37	2	27728609	27728609	+	Missense_Mutation	SNP	C	C	T	rs138410297	byFrequency	TCGA-66-2756-01A-01D-1522-08	TCGA-66-2756-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	472c95e6-eccb-4988-be16-fdace73b2ed8	ff4f5936-f847-42ad-aedf-6a6a7fff6002	g.chr2:27728609C>T	ENST00000264717.2	+	10	838	c.775C>T	c.(775-777)Cgg>Tgg	p.R259W	GCKR_ENST00000424318.2_Missense_Mutation_p.R69W	NM_001486.3	NP_001477.2	Q14397	GCKR_HUMAN	glucokinase (hexokinase 4) regulator	259	SIS 1. {ECO:0000255|PROSITE- ProRule:PRU00797}.				carbohydrate metabolic process (GO:0005975)|cellular glucose homeostasis (GO:0001678)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|negative regulation of glucokinase activity (GO:0033132)|positive regulation of glucokinase activity (GO:0033133)|protein import into nucleus, translocation (GO:0000060)|regulation of glucose transport (GO:0010827)|response to fructose (GO:0009750)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|triglyceride homeostasis (GO:0070328)|urate metabolic process (GO:0046415)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)	carbohydrate binding (GO:0030246)|enzyme inhibitor activity (GO:0004857)|fructose-6-phosphate binding (GO:0070095)	p.R259W(1)		breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|liver(2)|lung(13)|ovary(2)	29	Acute lymphoblastic leukemia(172;0.155)					CGGCTCCTCCCGGATGAAAGG	0.552																																						uc002rky.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(775-777)CGG>TGG		glucokinase regulatory protein		C	TRP/ARG	0,4406		0,0,2203	74.0	70.0	71.0		775	-0.3	0.8	2	dbSNP_134	71	4,8596	3.7+/-12.6	0,4,4296	yes	missense	GCKR	NM_001486.3	101	0,4,6499	TT,TC,CC		0.0465,0.0,0.0308	possibly-damaging	259/626	27728609	4,13002	2203	4300	6503	SO:0001583	missense	2646				carbohydrate metabolic process|glucose transport|negative regulation of glucokinase activity|positive regulation of gene expression|protein import into nucleus, translocation|regulation of glucose transport|response to fructose stimulus|transmembrane transport|triglyceride homeostasis|urate metabolic process	cytosol|nucleoplasm	fructose-6-phosphate binding|protein binding	g.chr2:27728609C>T	Z48475	CCDS1757.1	2p23	2008-05-21	2004-05-20		ENSG00000084734	ENSG00000084734			4196	protein-coding gene	gene with protein product		600842	"""glucokinase (hexokinase 4) regulatory protein"""			9570959, 8662230	Standard	NM_001486		Approved		uc002rky.3	Q14397	OTTHUMG00000128426	ENST00000264717.2:c.775C>T	2.37:g.27728609C>T	ENSP00000264717:p.Arg259Trp					GCKR_uc010ezd.2_Missense_Mutation_p.R259W|GCKR_uc010ylu.1_Missense_Mutation_p.R69W	p.R259W	NM_001486	NP_001477	Q14397	GCKR_HUMAN			10	841	+	Acute lymphoblastic leukemia(172;0.155)		259			SIS 1.		A1L4C2|B4DPQ2|Q53RY6|Q99522	Missense_Mutation	SNP	ENST00000264717.2	37	c.775C>T	CCDS1757.1	.	.	.	.	.	.	.	.	.	.	C	16.76	3.212254	0.58452	0.0	4.65E-4	ENSG00000084734	ENST00000264717;ENST00000424318	T;T	0.66995	-0.24;-0.24	3.88	-0.316	0.12743	Glucokinase regulatory, conserved site (1);Sugar isomerase (SIS) (1);	0.073994	0.51477	N	0.000098	T	0.74183	0.3683	M	0.83483	2.645	0.28518	N	0.913208	D;D;D	0.76494	0.995;0.999;0.997	P;P;P	0.60541	0.668;0.764;0.876	T	0.66500	-0.5908	10	0.87932	D	0	-0.8747	4.4823	0.11773	0.1576:0.5468:0.0:0.2956	.	69;259;259	F5H1P6;A8K731;Q14397	.;.;GCKR_HUMAN	W	259;69	ENSP00000264717:R259W;ENSP00000409109:R69W	ENSP00000264717:R259W	R	+	1	2	GCKR	27582113	0.958000	0.32768	0.806000	0.32338	0.909000	0.53808	-0.163000	0.09997	0.097000	0.17492	-0.136000	0.14681	CGG		PASS	0.552	GCKR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250214.1	NM_001486		21	46	21	46	---	---	---	---
SLC4A1AP	22950	broad.mit.edu	37	2	27890251	27890251	+	Nonsense_Mutation	SNP	C	C	T			TCGA-66-2756-01A-01D-1522-08	TCGA-66-2756-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	472c95e6-eccb-4988-be16-fdace73b2ed8	ff4f5936-f847-42ad-aedf-6a6a7fff6002	g.chr2:27890251C>T	ENST00000326019.6	+	3	1420	c.1138C>T	c.(1138-1140)Cga>Tga	p.R380*		NM_018158.2	NP_060628.2	Q9BWU0	NADAP_HUMAN	solute carrier family 4 (anion exchanger), member 1, adaptor protein	380						cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.R380*(1)		breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|upper_aerodigestive_tract(1)	23	Acute lymphoblastic leukemia(172;0.155)					CTTTTTTGACCGAGAAGGTAT	0.408																																						uc002rlk.3																			1	Substitution - Nonsense(1)		lung(1)		0						c.(1138-1140)CGA>TGA		solute carrier family 4 (anion exchanger),							68.0	71.0	70.0					2																	27890251		2203	4300	6503	SO:0001587	stop_gained	22950					cytoplasm|nucleus	double-stranded RNA binding|protein binding	g.chr2:27890251C>T		CCDS33166.1	2p23.3	2010-03-11	2001-11-28		ENSG00000163798	ENSG00000163798			13813	protein-coding gene	gene with protein product	"""lung cancer oncogene 3"""	602655	"""solute carrier family 4 (anion exchanger), member 1, adapter protein"""			9422766	Standard	NM_018158		Approved	kanadaptin, HLC3	uc002rlk.4	Q9BWU0	OTTHUMG00000151944	ENST00000326019.6:c.1138C>T	2.37:g.27890251C>T	ENSP00000323837:p.Arg380*						p.R380*	NM_018158	NP_060628	Q9BWU0	NADAP_HUMAN			3	1420	+	Acute lymphoblastic leukemia(172;0.155)		380					A6NJ39|Q4KMT1|Q4KMX0|Q7Z5Q9|Q9NVN2	Nonsense_Mutation	SNP	ENST00000326019.6	37	c.1138C>T	CCDS33166.1	.	.	.	.	.	.	.	.	.	.	C	39	7.817549	0.98507	.	.	ENSG00000163798	ENST00000326019	.	.	.	5.27	3.26	0.37387	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-9.1153	11.7609	0.51903	0.5953:0.4047:0.0:0.0	.	.	.	.	X	380	.	ENSP00000323837:R380X	R	+	1	2	SLC4A1AP	27743755	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.778000	0.47726	1.176000	0.42840	0.655000	0.94253	CGA		PASS	0.408	SLC4A1AP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324550.1	NM_018158		37	73	37	73	---	---	---	---
WDR43	23160	broad.mit.edu	37	2	29152529	29152529	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2756-01A-01D-1522-08	TCGA-66-2756-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	472c95e6-eccb-4988-be16-fdace73b2ed8	ff4f5936-f847-42ad-aedf-6a6a7fff6002	g.chr2:29152529G>T	ENST00000407426.3	+	11	1446	c.1390G>T	c.(1390-1392)Gtt>Ttt	p.V464F	Y_RNA_ENST00000410292.1_RNA|SNORD53_SNORD92_ENST00000577887.1_RNA|SNORD53_ENST00000579969.1_RNA	NM_015131.1	NP_055946.1	Q15061	WDR43_HUMAN	WD repeat domain 43	464						nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)	p.V507F(1)		breast(3)|endometrium(2)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)	20	Acute lymphoblastic leukemia(172;0.155)					TAGCTTTCCAGTTCTTCTTAC	0.348																																						uc002rmo.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1390-1392)GTT>TTT		WD repeat domain 43							105.0	104.0	104.0					2																	29152529		1832	4095	5927	SO:0001583	missense	23160					nucleolus		g.chr2:29152529G>T	D87716	CCDS46251.1	2p23.3	2013-01-09			ENSG00000163811	ENSG00000163811		"""WD repeat domain containing"""	28945	protein-coding gene	gene with protein product	"""UTP5, small subunit (SSU) processome component, homolog (yeast)"""					7584026, 7584028, 17699751	Standard	NM_015131		Approved	KIAA0007, NET12, UTP5	uc002rmo.2	Q15061	OTTHUMG00000152015	ENST00000407426.3:c.1390G>T	2.37:g.29152529G>T	ENSP00000384302:p.Val464Phe						p.V464F	NM_015131	NP_055946	Q15061	WDR43_HUMAN			11	1422	+	Acute lymphoblastic leukemia(172;0.155)		464					Q15395|Q92577	Missense_Mutation	SNP	ENST00000407426.3	37	c.1390G>T	CCDS46251.1	.	.	.	.	.	.	.	.	.	.	G	24.9	4.576614	0.86645	.	.	ENSG00000163811	ENST00000407426	T	0.76186	-1.0	5.81	5.81	0.92471	.	0.000000	0.85682	D	0.000000	D	0.85270	0.5658	M	0.73598	2.24	0.80722	D	1	D	0.61697	0.99	P	0.59948	0.866	D	0.85657	0.1286	10	0.62326	D	0.03	-17.8075	20.0782	0.97758	0.0:0.0:1.0:0.0	.	464	Q15061	WDR43_HUMAN	F	464	ENSP00000384302:V464F	ENSP00000384302:V464F	V	+	1	0	WDR43	29006033	1.000000	0.71417	1.000000	0.80357	0.954000	0.61252	4.284000	0.58983	2.746000	0.94184	0.655000	0.94253	GTT		PASS	0.348	WDR43-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324865.1	XM_087089		12	114	12	114	---	---	---	---
CLIP4	79745	broad.mit.edu	37	2	29404720	29404720	+	Silent	SNP	G	G	T			TCGA-66-2756-01A-01D-1522-08	TCGA-66-2756-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	472c95e6-eccb-4988-be16-fdace73b2ed8	ff4f5936-f847-42ad-aedf-6a6a7fff6002	g.chr2:29404720G>T	ENST00000320081.5	+	16	2334	c.2079G>T	c.(2077-2079)cgG>cgT	p.R693R	CLIP4_ENST00000401617.2_Intron|CLIP4_ENST00000404424.1_Silent_p.R693R	NM_024692.4	NP_078968.3	Q8N3C7	CLIP4_HUMAN	CAP-GLY domain containing linker protein family, member 4	693								p.R693R(1)		endometrium(4)|kidney(2)|large_intestine(9)|lung(8)|ovary(1)|prostate(1)|skin(1)	26	Acute lymphoblastic leukemia(172;0.155)					TGACCTATCGGGGAATTAATG	0.403																																						uc002rmv.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(2077-2079)CGG>CGT		CAP-GLY domain containing linker protein family,							87.0	90.0	89.0					2																	29404720		2203	4300	6503	SO:0001819	synonymous_variant	79745							g.chr2:29404720G>T	AK024722	CCDS1770.1, CCDS74502.1	2p23	2013-01-10	2007-01-04	2007-01-04	ENSG00000115295	ENSG00000115295		"""Ankyrin repeat domain containing"""	26108	protein-coding gene	gene with protein product			"""restin-like 2"""	RSNL2			Standard	XM_005264562		Approved	FLJ21069	uc002rmv.3	Q8N3C7	OTTHUMG00000097837	ENST00000320081.5:c.2079G>T	2.37:g.29404720G>T						CLIP4_uc002rmw.2_RNA	p.R693R	NM_024692	NP_078968	Q8N3C7	CLIP4_HUMAN			16	2318	+	Acute lymphoblastic leukemia(172;0.155)		693					A0AV10|B2RMQ3|B7Z7N8|Q7Z4U3|Q96BR7|Q96MA5|Q9H7C0	Silent	SNP	ENST00000320081.5	37	c.2079G>T	CCDS1770.1																																																																																				PASS	0.403	CLIP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215123.2	NM_024692		181	107	181	107	---	---	---	---
XDH	7498	broad.mit.edu	37	2	31587050	31587050	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2756-01A-01D-1522-08	TCGA-66-2756-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	472c95e6-eccb-4988-be16-fdace73b2ed8	ff4f5936-f847-42ad-aedf-6a6a7fff6002	g.chr2:31587050C>A	ENST00000379416.3	-	24	2653	c.2605G>T	c.(2605-2607)Ggg>Tgg	p.G869W		NM_000379.3	NP_000370.2	P47989	XDH_HUMAN	xanthine dehydrogenase	869					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|lactation (GO:0007595)|negative regulation of endothelial cell differentiation (GO:0045602)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of gene expression (GO:0010629)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of vascular endothelial growth factor signaling pathway (GO:1900747)|negative regulation of vasculogenesis (GO:2001213)|nucleobase-containing small molecule metabolic process (GO:0055086)|positive regulation of p38MAPK cascade (GO:1900745)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|purine nucleobase metabolic process (GO:0006144)|purine nucleotide catabolic process (GO:0006195)|small molecule metabolic process (GO:0044281)|xanthine catabolic process (GO:0009115)	cytosol (GO:0005829)|extracellular space (GO:0005615)|peroxisome (GO:0005777)	2 iron, 2 sulfur cluster binding (GO:0051537)|electron carrier activity (GO:0009055)|flavin adenine dinucleotide binding (GO:0050660)|iron ion binding (GO:0005506)|molybdopterin cofactor binding (GO:0043546)|protein homodimerization activity (GO:0042803)|UDP-N-acetylmuramate dehydrogenase activity (GO:0008762)|xanthine dehydrogenase activity (GO:0004854)|xanthine oxidase activity (GO:0004855)	p.G869W(1)		breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(31)|ovary(1)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(1)	74	Acute lymphoblastic leukemia(172;0.155)				Aldesleukin(DB00041)|Allopurinol(DB00437)|Azathioprine(DB00993)|Carboplatin(DB00958)|Carvedilol(DB01136)|Chlorphenesin(DB00856)|Cisplatin(DB00515)|Daunorubicin(DB00694)|Deferoxamine(DB00746)|Doxorubicin(DB00997)|Flavin adenine dinucleotide(DB03147)|L-Carnitine(DB00583)|Menadione(DB00170)|Mercaptopurine(DB01033)|Nitrofural(DB00336)|Procarbazine(DB01168)|Pyrazinamide(DB00339)|Spermine(DB00127)|Trifluoperazine(DB00831)	TGGGTGTTCCCCACATTGCTG	0.552																																					Colon(66;682 1445 30109 40147)	uc002rnv.1																			1	Substitution - Missense(1)		lung(1)	skin(4)|breast(2)|ovary(1)|central_nervous_system(1)	8						c.(2605-2607)GGG>TGG		xanthine dehydrogenase	Allopurinol(DB00437)|Carvedilol(DB01136)|Daunorubicin(DB00694)|Deferoxamine(DB00746)|Desflurane(DB01189)|Menadione(DB00170)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|NADH(DB00157)|Nitrofurazone(DB00336)|Papaverine(DB01113)|Procarbazine(DB01168)|Pyrazinamide(DB00339)|Rasburicase(DB00049)|Spermine(DB00127)|Trifluoperazine(DB00831)|Vitamin E(DB00163)						163.0	145.0	151.0					2																	31587050		2203	4300	6503	SO:0001583	missense	7498				purine nucleotide catabolic process|xanthine catabolic process	cytosol|extracellular region|peroxisome	2 iron, 2 sulfur cluster binding|electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|molybdopterin cofactor binding|protein homodimerization activity|xanthine dehydrogenase activity|xanthine oxidase activity	g.chr2:31587050C>A	D11456	CCDS1775.1	2p23.1	2009-07-10	2003-03-20		ENSG00000158125	ENSG00000158125	1.17.1.4		12805	protein-coding gene	gene with protein product		607633	"""xanthene dehydrogenase"""			8224915	Standard	NM_000379		Approved	XOR, XO	uc002rnv.1	P47989	OTTHUMG00000099385	ENST00000379416.3:c.2605G>T	2.37:g.31587050C>A	ENSP00000368727:p.Gly869Trp						p.G869W	NM_000379	NP_000370	P47989	XDH_HUMAN			24	2684	-	Acute lymphoblastic leukemia(172;0.155)		869					Q16681|Q16712|Q4PJ16	Missense_Mutation	SNP	ENST00000379416.3	37	c.2605G>T	CCDS1775.1	.	.	.	.	.	.	.	.	.	.	C	27.4	4.830779	0.91036	.	.	ENSG00000158125	ENST00000379416	T	0.79454	-1.27	6.17	6.17	0.99709	Aldehyde oxidase/xanthine dehydrogenase, molybdopterin binding (3);	0.000000	0.85682	D	0.000000	D	0.93367	0.7885	H	0.98218	4.175	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.94752	0.7928	10	0.87932	D	0	.	20.4898	0.99202	0.0:1.0:0.0:0.0	.	869	P47989	XDH_HUMAN	W	869	ENSP00000368727:G869W	ENSP00000368727:G869W	G	-	1	0	XDH	31440554	1.000000	0.71417	0.748000	0.31131	0.825000	0.46686	7.509000	0.81698	2.941000	0.99782	0.655000	0.94253	GGG		PASS	0.552	XDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216840.1	NM_000379		16	45	16	45	---	---	---	---
BIRC6	57448	broad.mit.edu	37	2	32750665	32750665	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2756-01A-01D-1522-08	TCGA-66-2756-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	472c95e6-eccb-4988-be16-fdace73b2ed8	ff4f5936-f847-42ad-aedf-6a6a7fff6002	g.chr2:32750665G>T	ENST00000421745.2	+	59	12024	c.11890G>T	c.(11890-11892)Gtg>Ttg	p.V3964L		NM_016252.3	NP_057336	Q9NR09	BIRC6_HUMAN	baculoviral IAP repeat containing 6	3964					apoptotic process (GO:0006915)|labyrinthine layer development (GO:0060711)|mitotic nuclear division (GO:0007067)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|positive regulation of cell proliferation (GO:0008284)|protein phosphorylation (GO:0006468)|protein ubiquitination (GO:0016567)|regulation of cell proliferation (GO:0042127)|regulation of cytokinesis (GO:0032465)|spongiotrophoblast layer development (GO:0060712)	endosome (GO:0005768)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)|midbody (GO:0030496)|spindle pole (GO:0000922)|trans-Golgi network (GO:0005802)	acid-amino acid ligase activity (GO:0016881)|cysteine-type endopeptidase inhibitor activity (GO:0004869)|ubiquitin-protein transferase activity (GO:0004842)	p.V3964L(1)|p.V3936L(1)		NS(4)|breast(8)|central_nervous_system(3)|endometrium(21)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(31)|lung(65)|ovary(7)|pancreas(1)|prostate(5)|skin(5)|stomach(1)|urinary_tract(5)	172	Acute lymphoblastic leukemia(172;0.155)					TACTGTCCCAGTGTTTCACCT	0.418																																					Pancreas(94;175 1509 16028 18060 45422)	uc010ezu.2																			2	Substitution - Missense(2)		lung(2)	ovary(5)|skin(4)|lung(2)|central_nervous_system(1)|breast(1)|pancreas(1)	14						c.(11890-11892)GTG>TTG		baculoviral IAP repeat-containing 6							74.0	74.0	74.0					2																	32750665		2203	4300	6503	SO:0001583	missense	57448				anti-apoptosis|apoptosis	intracellular	acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding	g.chr2:32750665G>T	AF265555	CCDS33175.2	2p22.3	2011-01-25	2011-01-25		ENSG00000115760	ENSG00000115760		"""Baculoviral IAP repeat containing"", ""Ubiquitin-conjugating enzymes E2"""	13516	protein-coding gene	gene with protein product	"""apollon"""	605638	"""baculoviral IAP repeat-containing 6"""			10544019	Standard	NM_016252		Approved	BRUCE	uc010ezu.3	Q9NR09	OTTHUMG00000150528	ENST00000421745.2:c.11890G>T	2.37:g.32750665G>T	ENSP00000393596:p.Val3964Leu						p.V3964L	NM_016252	NP_057336	Q9NR09	BIRC6_HUMAN			59	12024	+	Acute lymphoblastic leukemia(172;0.155)		3964					Q9ULD1	Missense_Mutation	SNP	ENST00000421745.2	37	c.11890G>T	CCDS33175.2	.	.	.	.	.	.	.	.	.	.	G	33	5.277508	0.95459	.	.	ENSG00000115760	ENST00000421745	T	0.74737	-0.87	5.61	5.61	0.85477	.	0.063745	0.64402	D	0.000008	T	0.65238	0.2672	L	0.27053	0.805	0.80722	D	1	P	0.36683	0.565	B	0.33890	0.172	T	0.66360	-0.5943	10	0.45353	T	0.12	.	19.6295	0.95694	0.0:0.0:1.0:0.0	.	3964	Q9NR09	BIRC6_HUMAN	L	3964	ENSP00000393596:V3964L	ENSP00000393596:V3964L	V	+	1	0	BIRC6	32604169	1.000000	0.71417	0.966000	0.40874	0.984000	0.73092	9.160000	0.94734	2.647000	0.89833	0.655000	0.94253	GTG		PASS	0.418	BIRC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318769.3	NM_016252		86	31	86	31	---	---	---	---
STRN	6801	broad.mit.edu	37	2	37143248	37143248	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2756-01A-01D-1522-08	TCGA-66-2756-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	472c95e6-eccb-4988-be16-fdace73b2ed8	ff4f5936-f847-42ad-aedf-6a6a7fff6002	g.chr2:37143248C>A	ENST00000263918.4	-	3	393	c.385G>T	c.(385-387)Gat>Tat	p.D129Y	STRN_ENST00000379213.2_Missense_Mutation_p.D117Y	NM_003162.3	NP_003153.2	O43815	STRN_HUMAN	striatin, calmodulin binding protein	129					dendrite development (GO:0016358)|locomotory behavior (GO:0007626)|negative regulation of cell proliferation (GO:0008285)|tight junction assembly (GO:0070830)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|tight junction (GO:0005923)	armadillo repeat domain binding (GO:0070016)|calmodulin binding (GO:0005516)|estrogen receptor binding (GO:0030331)|protein complex binding (GO:0032403)|protein phosphatase 2A binding (GO:0051721)	p.D129Y(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(16)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	33		Ovarian(717;0.0129)|all_hematologic(82;0.21)				GGCTTCATATCTCCCTGATTC	0.308																																						uc002rpn.2																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(385-387)GAT>TAT		striatin, calmodulin binding protein							73.0	66.0	68.0					2																	37143248		2203	4300	6503	SO:0001583	missense	6801				dendrite development|locomotory behavior|negative regulation of cell proliferation|tight junction assembly|Wnt receptor signaling pathway	cytoplasm|dendritic spine|neuronal cell body|postsynaptic density|postsynaptic membrane|tight junction	armadillo repeat domain binding|calmodulin binding|estrogen receptor binding|protein complex binding|protein phosphatase 2A binding	g.chr2:37143248C>A	AJ223814	CCDS1784.1	2p22.2	2013-01-10	2001-11-28		ENSG00000115808	ENSG00000115808		"""WD repeat domain containing"""	11424	protein-coding gene	gene with protein product		614765	"""striatin, calmodulin-binding protein"""			9693043, 8769426	Standard	NM_003162		Approved	SG2NA	uc002rpn.3	O43815	OTTHUMG00000100959	ENST00000263918.4:c.385G>T	2.37:g.37143248C>A	ENSP00000263918:p.Asp129Tyr					STRN_uc010ezx.2_Missense_Mutation_p.D129Y	p.D129Y	NM_003162	NP_003153	O43815	STRN_HUMAN			3	394	-		Ovarian(717;0.0129)|all_hematologic(82;0.21)	129					Q3KP65|Q53TQ8|Q9NP38	Missense_Mutation	SNP	ENST00000263918.4	37	c.385G>T	CCDS1784.1	.	.	.	.	.	.	.	.	.	.	C	25.2	4.614952	0.87359	.	.	ENSG00000115808	ENST00000263918;ENST00000538092;ENST00000379213	T;T	0.68765	-0.35;-0.3	5.65	5.65	0.86999	Striatin, N-terminal (1);	0.148584	0.64402	D	0.000013	T	0.81602	0.4857	M	0.69823	2.125	0.80722	D	1	D;D	0.63880	0.991;0.993	P;D	0.70016	0.891;0.967	T	0.82520	-0.0416	10	0.87932	D	0	-19.1796	18.8456	0.92205	0.0:1.0:0.0:0.0	.	117;129	O43815-2;O43815	.;STRN_HUMAN	Y	129;104;117	ENSP00000263918:D129Y;ENSP00000368513:D117Y	ENSP00000263918:D129Y	D	-	1	0	STRN	36996752	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	5.444000	0.66587	2.826000	0.97356	0.491000	0.48974	GAT		PASS	0.308	STRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000218568.1			25	33	25	33	---	---	---	---
SLC8A1	6546	broad.mit.edu	37	2	40657159	40657159	+	Missense_Mutation	SNP	T	T	G			TCGA-66-2756-01A-01D-1522-08	TCGA-66-2756-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	472c95e6-eccb-4988-be16-fdace73b2ed8	ff4f5936-f847-42ad-aedf-6a6a7fff6002	g.chr2:40657159T>G	ENST00000403092.1	-	2	295	c.262A>C	c.(262-264)Atg>Ctg	p.M88L	SLC8A1_ENST00000406391.2_Missense_Mutation_p.M88L|SLC8A1_ENST00000542024.1_Missense_Mutation_p.M88L|SLC8A1_ENST00000332839.4_Missense_Mutation_p.M88L|SLC8A1_ENST00000542756.1_Missense_Mutation_p.M88L|SLC8A1_ENST00000405901.3_Missense_Mutation_p.M88L|SLC8A1_ENST00000402441.1_Missense_Mutation_p.M88L|SLC8A1_ENST00000405269.1_Missense_Mutation_p.M88L|SLC8A1_ENST00000408028.2_Missense_Mutation_p.M88L|SLC8A1_ENST00000406785.2_Missense_Mutation_p.M88L			P32418	NAC1_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 1	88					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.M88L(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)	CCAAGAAACATGTAGACCATG	0.413																																						uc002rrx.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|kidney(1)|central_nervous_system(1)|skin(1)	4						c.(262-264)ATG>CTG		solute carrier family 8 (sodium/calcium	Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159)						101.0	102.0	102.0					2																	40657159		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.chr2:40657159T>G		CCDS1806.1, CCDS46264.1, CCDS46265.1, CCDS59430.1	2p22.1	2013-07-15			ENSG00000183023	ENSG00000183023		"""Solute carriers"""	11068	protein-coding gene	gene with protein product	"""Na+/Ca++ exchanger"""	182305		NCX1		1559714	Standard	NM_021097		Approved		uc002rrx.3	P32418	OTTHUMG00000102183	ENST00000403092.1:c.262A>C	2.37:g.40657159T>G	ENSP00000384763:p.Met88Leu					SLC8A1_uc002rry.2_Missense_Mutation_p.M88L|SLC8A1_uc002rrz.2_Missense_Mutation_p.M88L|SLC8A1_uc002rsa.2_Missense_Mutation_p.M88L|SLC8A1_uc002rsd.3_Missense_Mutation_p.M88L|SLC8A1_uc002rsb.1_Missense_Mutation_p.M88L|SLC8A1_uc010fan.1_Missense_Mutation_p.M88L|SLC8A1_uc002rsc.1_Missense_Mutation_p.M88L	p.M88L	NM_021097	NP_066920	P32418	NAC1_HUMAN			1	286	-			88			Helical; (Potential).		A8K6N1|D6W595|O95849|Q4QQG6|Q587I6|Q59GN4|Q9UBL8|Q9UD55|Q9UDN1|Q9UDN2|Q9UKX6	Missense_Mutation	SNP	ENST00000403092.1	37	c.262A>C	CCDS1806.1	.	.	.	.	.	.	.	.	.	.	T	10.48	1.362914	0.24684	.	.	ENSG00000183023	ENST00000406785;ENST00000378715;ENST00000542756;ENST00000542640;ENST00000403092;ENST00000405901;ENST00000402441;ENST00000405269;ENST00000332839;ENST00000408028;ENST00000535962;ENST00000406391;ENST00000542024	T;T;T;T;T;T;T;T;T;T	0.27256	1.69;1.73;1.73;1.73;1.69;1.69;1.73;1.68;1.69;1.69	5.59	5.59	0.84812	.	0.000000	0.85682	D	0.000000	T	0.22399	0.0540	L	0.34521	1.04	0.80722	D	1	B;B;B;B;B	0.27765	0.017;0.188;0.006;0.001;0.01	B;B;B;B;B	0.33846	0.017;0.171;0.017;0.014;0.011	T	0.06789	-1.0807	10	0.18710	T	0.47	.	13.7389	0.62836	0.0:0.0:0.0:1.0	.	88;88;88;88;88	P32418-4;P32418-2;P32418-3;F6VPY9;P32418	.;.;.;.;NAC1_HUMAN	L	88	ENSP00000383886:M88L;ENSP00000440727:M88L;ENSP00000384763:M88L;ENSP00000385678:M88L;ENSP00000385188:M88L;ENSP00000385535:M88L;ENSP00000332931:M88L;ENSP00000384908:M88L;ENSP00000385811:M88L;ENSP00000443515:M88L	ENSP00000332931:M88L	M	-	1	0	SLC8A1	40510663	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.881000	0.87252	2.140000	0.66376	0.460000	0.39030	ATG		PASS	0.413	SLC8A1-010	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326065.1	NM_021097		60	92	60	92	---	---	---	---
THADA	63892	broad.mit.edu	37	2	43804383	43804383	+	Splice_Site	SNP	T	T	C			TCGA-66-2756-01A-01D-1522-08	TCGA-66-2756-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	472c95e6-eccb-4988-be16-fdace73b2ed8	ff4f5936-f847-42ad-aedf-6a6a7fff6002	g.chr2:43804383T>C	ENST00000405006.4	-	10	1168		c.e10-2		THADA_ENST00000404790.1_Splice_Site|THADA_ENST00000330266.7_5'Flank|THADA_ENST00000402360.2_Splice_Site|THADA_ENST00000415080.2_Splice_Site|THADA_ENST00000405975.2_Splice_Site|THADA_ENST00000403856.1_Splice_Site	NM_001083953.1|NM_001271643.1	NP_001077422.1|NP_001258572.1	Q6YHU6	THADA_HUMAN	thyroid adenoma associated									p.?(1)		breast(1)|endometrium(9)|kidney(5)|large_intestine(9)|liver(1)|lung(28)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	66		Acute lymphoblastic leukemia(82;0.00361)|all_hematologic(82;0.00837)				ACTGCTAATCTGGAAAAATAT	0.428											OREG0014580	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc002rsw.3																			1	Unknown(1)		lung(1)	ovary(2)|skin(1)	3						c.e10-1		thyroid adenoma associated							19.0	19.0	19.0					2																	43804383		1921	4122	6043	SO:0001630	splice_region_variant	63892						binding	g.chr2:43804383T>C	AY149629	CCDS46268.1, CCDS62901.1, CCDS62902.1	2p21	2008-02-05			ENSG00000115970	ENSG00000115970			19217	protein-coding gene	gene with protein product		611800				12063398, 11214970	Standard	NM_022065		Approved	FLJ21877, KIAA1767, GITA	uc002rsx.4	Q6YHU6	OTTHUMG00000152398	ENST00000405006.4:c.817-2A>G	2.37:g.43804383T>C			OREG0014580	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	919	THADA_uc002rsx.3_Splice_Site_p.I273_splice|THADA_uc002rsy.3_Intron|THADA_uc010fas.1_5'Flank|THADA_uc002rsz.2_Intron|THADA_uc002rta.2_Intron|THADA_uc002rtb.1_Splice_Site_p.I273_splice|THADA_uc002rtc.3_Splice_Site_p.I273_splice|THADA_uc002rtd.2_Splice_Site_p.I273_splice	p.I273_splice	NM_001083953	NP_001077422	Q6YHU6	THADA_HUMAN			10	1169	-		Acute lymphoblastic leukemia(82;0.00361)|all_hematologic(82;0.00837)						A8K1V8|B7WNS6|Q3KR04|Q53RC6|Q53TB2|Q6YHU2|Q6ZU38|Q8IY32|Q8TAU8|Q96I88|Q9BZF7|Q9C096|Q9H6U0|Q9H6W7	Splice_Site	SNP	ENST00000405006.4	37	c.817_splice	CCDS46268.1	.	.	.	.	.	.	.	.	.	.	T	13.13	2.145478	0.37825	.	.	ENSG00000115970	ENST00000405975;ENST00000356975;ENST00000405006;ENST00000402360;ENST00000404790;ENST00000403856	.	.	.	5.28	4.14	0.48551	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	10.4834	0.44706	0.0:0.0759:0.0:0.924	.	.	.	.	.	-1	.	.	.	-	.	.	THADA	43657887	1.000000	0.71417	0.908000	0.35775	0.136000	0.21042	5.162000	0.64942	1.995000	0.58328	0.459000	0.35465	.		PASS	0.428	THADA-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326070.3	NM_022065	Intron	5	13	5	13	---	---	---	---
FSHR	2492	broad.mit.edu	37	2	49189894	49189894	+	Missense_Mutation	SNP	A	A	G	rs547208879		TCGA-66-2756-01A-01D-1522-08	TCGA-66-2756-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	472c95e6-eccb-4988-be16-fdace73b2ed8	ff4f5936-f847-42ad-aedf-6a6a7fff6002	g.chr2:49189894A>G	ENST00000406846.2	-	10	2185	c.2066T>C	c.(2065-2067)cTa>cCa	p.L689P	FSHR_ENST00000304421.4_Missense_Mutation_p.L663P|FSHR_ENST00000541117.1_Missense_Mutation_p.L425P|FSHR_ENST00000346173.3_Missense_Mutation_p.L627P	NM_000145.3	NP_000136.2	P23945	FSHR_HUMAN	follicle stimulating hormone receptor	689					female gamete generation (GO:0007292)|female gonad development (GO:0008585)|follicle-stimulating hormone signaling pathway (GO:0042699)|G-protein coupled receptor signaling pathway (GO:0007186)|gonad development (GO:0008406)|male gonad development (GO:0008584)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	follicle-stimulating hormone receptor activity (GO:0004963)	p.L689P(1)		NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(10)|liver(1)|lung(45)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	73		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.181)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		Choriogonadotropin alfa(DB00097)|Follitropin beta(DB00066)|Menotropins(DB00032)|Suramin(DB04786)|Urofollitropin(DB00094)	TAAATGACTTAGAGGGACAAG	0.428									Gonadal Dysgenesis, 46 XX				A|||	1	0.000199681	0.0	0.0014	5008	,	,		20286	0.0		0.0	False		,,,				2504	0.0					uc002rww.2																			1	Substitution - Missense(1)		lung(1)	ovary(4)|lung(2)|central_nervous_system(1)|skin(1)	8						c.(2065-2067)CTA>CCA		follicle stimulating hormone receptor isoform 1	Choriogonadotropin alfa(DB00097)|Follitropin beta(DB00066)|Menotropins(DB00032)|Urofollitropin(DB00094)						128.0	124.0	125.0					2																	49189894		2203	4300	6503	SO:0001583	missense	2492	Gonadal_Dysgenesis_46_XX	Familial Cancer Database		female gamete generation|male gonad development|spermatogenesis	integral to membrane|plasma membrane	follicle-stimulating hormone receptor activity|protein binding	g.chr2:49189894A>G		CCDS1843.1, CCDS1844.1, CCDS1844.2	2p21-p16	2014-09-17			ENSG00000170820	ENSG00000170820		"""GPCR / Class A : Gonadotropin and TSH receptors"""	3969	protein-coding gene	gene with protein product		136435		ODG1		8230163, 8855829	Standard	NM_000145		Approved	FSHRO, LGR1	uc002rww.3	P23945	OTTHUMG00000129259	ENST00000406846.2:c.2066T>C	2.37:g.49189894A>G	ENSP00000384708:p.Leu689Pro					FSHR_uc002rwx.2_Missense_Mutation_p.L627P|FSHR_uc010fbn.2_Missense_Mutation_p.L663P	p.L689P	NM_000145	NP_000136	P23945	FSHR_HUMAN	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		10	2140	-		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.181)	689			Cytoplasmic (Potential).		A8K947|G5CBS7|G5E967|J3KQ00|Q05AH0|Q16225|Q4QRJ3|Q4ZFZ2|Q53RW2	Missense_Mutation	SNP	ENST00000406846.2	37	c.2066T>C	CCDS1843.1	.	.	.	.	.	.	.	.	.	.	A	13.29	2.192642	0.38707	.	.	ENSG00000170820	ENST00000406846;ENST00000346173;ENST00000304421;ENST00000541117	T;T;T;T	0.74002	-0.63;-0.77;-0.62;-0.8	5.35	5.35	0.76521	.	0.243172	0.34411	N	0.003985	D	0.86209	0.5878	M	0.80982	2.52	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.999	D	0.87030	0.2134	9	.	.	.	.	14.958	0.71131	1.0:0.0:0.0:0.0	.	663;627;689	Q05AH0;G5E967;P23945	.;.;FSHR_HUMAN	P	689;627;663;425	ENSP00000384708:L689P;ENSP00000333908:L627P;ENSP00000306780:L663P;ENSP00000444172:L425P	.	L	-	2	0	FSHR	49043398	1.000000	0.71417	0.998000	0.56505	0.738000	0.42128	4.286000	0.58995	2.371000	0.80710	0.533000	0.62120	CTA		PASS	0.428	FSHR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251367.2			43	178	43	178	---	---	---	---
CCDC88A	55704	broad.mit.edu	37	2	55522967	55522967	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2756-01A-01D-1522-08	TCGA-66-2756-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	472c95e6-eccb-4988-be16-fdace73b2ed8	ff4f5936-f847-42ad-aedf-6a6a7fff6002	g.chr2:55522967G>T	ENST00000436346.1	-	31	6158	c.5317C>A	c.(5317-5319)Cct>Act	p.P1773T	CCDC88A_ENST00000336838.6_Missense_Mutation_p.P1772T|CCDC88A_ENST00000422883.2_Missense_Mutation_p.P274T|CCDC88A_ENST00000263630.8_Missense_Mutation_p.P1745T|CCDC88A_ENST00000413716.2_Intron	NM_001135597.1|NM_001254943.1	NP_001129069.1|NP_001241872.1	Q3V6T2	GRDN_HUMAN	coiled-coil domain containing 88A	1773					activation of protein kinase B activity (GO:0032148)|cell migration (GO:0016477)|DNA replication (GO:0006260)|lamellipodium assembly (GO:0030032)|membrane organization (GO:0061024)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cell proliferation (GO:0042127)|regulation of DNA replication (GO:0006275)|regulation of neuron projection development (GO:0010975)|regulation of protein phosphorylation (GO:0001932)|TOR signaling (GO:0031929)	cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)|membrane (GO:0016020)|plasma membrane (GO:0005886)	actin binding (GO:0003779)|microtubule binding (GO:0008017)|phosphatidylinositol binding (GO:0035091)|protein homodimerization activity (GO:0042803)|protein kinase B binding (GO:0043422)	p.P1745T(1)|p.P1772T(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(22)|lung(23)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|urinary_tract(1)	69						CCTGGTGTAGGTTTTCCCGCA	0.413																																						uc002ryv.2																			2	Substitution - Missense(2)		lung(2)	ovary(2)|skin(2)	4						c.(5314-5316)CCT>ACT		coiled-coil domain containing 88A isoform 1							91.0	90.0	90.0					2																	55522967		2203	4300	6503	SO:0001583	missense	55704				activation of protein kinase B activity|cell migration|cellular membrane organization|DNA replication|lamellipodium assembly|microtubule cytoskeleton organization|regulation of actin cytoskeleton organization|regulation of cell proliferation|regulation of DNA replication|regulation of neuron projection development|TOR signaling cascade	cytoplasmic membrane-bounded vesicle|cytosol|endoplasmic reticulum|Golgi apparatus|lamellipodium|plasma membrane	actin binding|microtubule binding|phosphatidylinositol binding|protein homodimerization activity|protein kinase B binding	g.chr2:55522967G>T	AB033038, AF112218	CCDS33203.1, CCDS46288.1, CCDS58710.1	2p16.3	2013-03-13	2007-05-31	2007-05-31	ENSG00000115355	ENSG00000115355			25523	protein-coding gene	gene with protein product	"""Galpha-interacting vesicle-associated protein"", ""Akt-phosphorylation enhancer"", ""girdin"", ""girders of actin filaments"""	609736	"""KIAA1212"""	KIAA1212		15749703, 15753085	Standard	NM_001135597		Approved	FLJ10392, APE, GIV, HkRP1, GRDN	uc002ryv.2	Q3V6T2	OTTHUMG00000151915	ENST00000436346.1:c.5317C>A	2.37:g.55522967G>T	ENSP00000410608:p.Pro1773Thr					CCDC88A_uc010yoz.1_Missense_Mutation_p.P1745T|CCDC88A_uc010ypa.1_Intron|CCDC88A_uc002ryt.2_Missense_Mutation_p.P63T|CCDC88A_uc010fbw.2_Missense_Mutation_p.P274T|CCDC88A_uc002ryu.2_Missense_Mutation_p.P1027T|CCDC88A_uc002rys.2_Missense_Mutation_p.P730T|CCDC88A_uc002ryw.2_Missense_Mutation_p.P1056T|CCDC88A_uc010fby.1_Missense_Mutation_p.P624T	p.P1772T	NM_001135597	NP_001129069	Q3V6T2	GRDN_HUMAN			31	6156	-			1773					A1IGE7|B7ZM78|C9JG83|Q53SF1|Q581G3|Q5HYD0|Q7Z339|Q7Z3C5	Missense_Mutation	SNP	ENST00000436346.1	37	c.5314C>A		.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	G|G|G	3.341|3.341|3.341	-0.134566|-0.134566|-0.134566	0.06711|0.06711|0.06711	.|.|.	.|.|.	ENSG00000115355|ENSG00000115355|ENSG00000115355	ENST00000444458|ENST00000336838;ENST00000263630;ENST00000436346;ENST00000422883;ENST00000412148;ENST00000426576|ENST00000456975	.|T;T;T;T;T|.	.|0.44482|.	.|2.47;2.72;2.69;0.92;1.41|.	5.24|5.24|5.24	-3.77|-3.77|-3.77	0.04346|0.04346|0.04346	.|.|.	.|0.568215|.	.|0.14628|.	.|U|.	.|0.307993|.	T|T|T	0.20700|0.20700|0.20700	0.0498|0.0498|0.0498	N|N|N	0.24115|0.24115|0.24115	0.695|0.695|0.695	0.09310|0.09310|0.09310	N|N|N	1|1|1	.|B;B;P;B;B;B|.	.|0.42296|.	.|0.0;0.0;0.775;0.0;0.0;0.0|.	.|B;B;B;B;B;B|.	.|0.41412|.	.|0.0;0.0;0.356;0.001;0.001;0.0|.	T|T|T	0.30504|0.30504|0.30504	-0.9976|-0.9976|-0.9976	5|10|5	.|0.27785|.	.|T|.	.|0.31|.	0.0037|0.0037|0.0037	6.0664|6.0664|6.0664	0.19866|0.19866|0.19866	0.5097:0.0:0.2813:0.209|0.5097:0.0:0.2813:0.209|0.5097:0.0:0.2813:0.209	.|.|.	.|1745;1690;274;1773;1772;1744|.	.|Q3V6T2-2;D6W5D1;B3KW94;Q3V6T2;Q3V6T2-3;Q3V6T2-4|.	.|.;.;.;GRDN_HUMAN;.;.|.	K|T|N	275|1772;1745;1773;274;790;948|725	.|ENSP00000338728:P1772T;ENSP00000263630:P1745T;ENSP00000410608:P1773T;ENSP00000390012:P790T;ENSP00000405080:P948T|.	.|ENSP00000263630:P1745T|.	N|P|T	-|-|-	3|1|2	2|0|0	CCDC88A|CCDC88A|CCDC88A	55376471|55376471|55376471	0.870000|0.870000|0.870000	0.30015|0.30015|0.30015	0.011000|0.011000|0.011000	0.14972|0.14972|0.14972	0.884000|0.884000|0.884000	0.51177|0.51177|0.51177	0.039000|0.039000|0.039000	0.13884|0.13884|0.13884	-0.810000|-0.810000|-0.810000	0.04375|0.04375|0.04375	-0.251000|-0.251000|-0.251000	0.11542|0.11542|0.11542	AAC|CCT|ACC		PASS	0.413	CCDC88A-203	KNOWN	basic	protein_coding	protein_coding		NM_017571		27	143	27	143	---	---	---	---
CCDC88A	55704	broad.mit.edu	37	2	55544718	55544718	+	Missense_Mutation	SNP	T	T	C			TCGA-66-2756-01A-01D-1522-08	TCGA-66-2756-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	472c95e6-eccb-4988-be16-fdace73b2ed8	ff4f5936-f847-42ad-aedf-6a6a7fff6002	g.chr2:55544718T>C	ENST00000436346.1	-	20	4425	c.3584A>G	c.(3583-3585)cAt>cGt	p.H1195R	AC012358.8_ENST00000608103.1_RNA|CCDC88A_ENST00000336838.6_Missense_Mutation_p.H1194R|AC012358.8_ENST00000599352.1_RNA|AC012358.8_ENST00000594078.1_RNA|AC012358.8_ENST00000600219.1_RNA|AC012358.8_ENST00000366287.4_RNA|CCDC88A_ENST00000263630.8_Missense_Mutation_p.H1195R|CCDC88A_ENST00000413716.2_Missense_Mutation_p.H1194R|AC012358.8_ENST00000599475.1_RNA	NM_001135597.1|NM_001254943.1	NP_001129069.1|NP_001241872.1	Q3V6T2	GRDN_HUMAN	coiled-coil domain containing 88A	1195					activation of protein kinase B activity (GO:0032148)|cell migration (GO:0016477)|DNA replication (GO:0006260)|lamellipodium assembly (GO:0030032)|membrane organization (GO:0061024)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cell proliferation (GO:0042127)|regulation of DNA replication (GO:0006275)|regulation of neuron projection development (GO:0010975)|regulation of protein phosphorylation (GO:0001932)|TOR signaling (GO:0031929)	cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)|membrane (GO:0016020)|plasma membrane (GO:0005886)	actin binding (GO:0003779)|microtubule binding (GO:0008017)|phosphatidylinositol binding (GO:0035091)|protein homodimerization activity (GO:0042803)|protein kinase B binding (GO:0043422)	p.H1194R(1)|p.H1195R(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(22)|lung(23)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|urinary_tract(1)	69						AAGGTCTCTATGTTCCACCTC	0.318																																						uc002ryv.2																			2	Substitution - Missense(2)		lung(2)	ovary(2)|skin(2)	4						c.(3580-3582)CAT>CGT		coiled-coil domain containing 88A isoform 1							48.0	53.0	51.0					2																	55544718		2203	4297	6500	SO:0001583	missense	55704				activation of protein kinase B activity|cell migration|cellular membrane organization|DNA replication|lamellipodium assembly|microtubule cytoskeleton organization|regulation of actin cytoskeleton organization|regulation of cell proliferation|regulation of DNA replication|regulation of neuron projection development|TOR signaling cascade	cytoplasmic membrane-bounded vesicle|cytosol|endoplasmic reticulum|Golgi apparatus|lamellipodium|plasma membrane	actin binding|microtubule binding|phosphatidylinositol binding|protein homodimerization activity|protein kinase B binding	g.chr2:55544718T>C	AB033038, AF112218	CCDS33203.1, CCDS46288.1, CCDS58710.1	2p16.3	2013-03-13	2007-05-31	2007-05-31	ENSG00000115355	ENSG00000115355			25523	protein-coding gene	gene with protein product	"""Galpha-interacting vesicle-associated protein"", ""Akt-phosphorylation enhancer"", ""girdin"", ""girders of actin filaments"""	609736	"""KIAA1212"""	KIAA1212		15749703, 15753085	Standard	NM_001135597		Approved	FLJ10392, APE, GIV, HkRP1, GRDN	uc002ryv.2	Q3V6T2	OTTHUMG00000151915	ENST00000436346.1:c.3584A>G	2.37:g.55544718T>C	ENSP00000410608:p.His1195Arg					CCDC88A_uc010yoz.1_Missense_Mutation_p.H1195R|CCDC88A_uc010ypa.1_Missense_Mutation_p.H1194R|CCDC88A_uc002ryu.2_Missense_Mutation_p.H477R|CCDC88A_uc002rys.2_Missense_Mutation_p.H180R|CCDC88A_uc002ryw.2_Missense_Mutation_p.H478R|CCDC88A_uc010fby.1_Missense_Mutation_p.H74R	p.H1194R	NM_001135597	NP_001129069	Q3V6T2	GRDN_HUMAN			20	4423	-			1195			Potential.		A1IGE7|B7ZM78|C9JG83|Q53SF1|Q581G3|Q5HYD0|Q7Z339|Q7Z3C5	Missense_Mutation	SNP	ENST00000436346.1	37	c.3581A>G		.	.	.	.	.	.	.	.	.	.	T	21.8	4.206695	0.79127	.	.	ENSG00000115355	ENST00000336838;ENST00000263630;ENST00000436346;ENST00000412148;ENST00000413716;ENST00000426576	T;T;T;T;T;T	0.52295	2.2;2.46;2.42;0.67;2.21;1.25	5.92	5.92	0.95590	.	0.000000	0.49916	U	0.000137	T	0.68869	0.3048	M	0.75085	2.285	0.80722	D	1	D;D;D;D;D;D	0.76494	0.996;0.997;0.999;0.996;0.999;0.999	D;D;D;D;D;D	0.79784	0.917;0.993;0.918;0.917;0.977;0.943	T	0.69577	-0.5108	10	0.45353	T	0.12	-18.3889	16.3604	0.83263	0.0:0.0:0.0:1.0	.	1194;1195;1140;1195;1194;1194	B7ZM78;Q3V6T2-2;D6W5D1;Q3V6T2;Q3V6T2-3;Q3V6T2-4	.;.;.;GRDN_HUMAN;.;.	R	1194;1195;1195;240;1194;370	ENSP00000338728:H1194R;ENSP00000263630:H1195R;ENSP00000410608:H1195R;ENSP00000390012:H240R;ENSP00000404431:H1194R;ENSP00000405080:H370R	ENSP00000263630:H1195R	H	-	2	0	CCDC88A	55398222	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	7.819000	0.86621	2.260000	0.74910	0.528000	0.53228	CAT		PASS	0.318	CCDC88A-203	KNOWN	basic	protein_coding	protein_coding		NM_017571		80	74	80	74	---	---	---	---
BCL11A	53335	broad.mit.edu	37	2	60688134	60688134	+	Missense_Mutation	SNP	A	A	T			TCGA-66-2756-01A-01D-1522-08	TCGA-66-2756-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	472c95e6-eccb-4988-be16-fdace73b2ed8	ff4f5936-f847-42ad-aedf-6a6a7fff6002	g.chr2:60688134A>T	ENST00000335712.6	-	4	2140	c.1913T>A	c.(1912-1914)cTc>cAc	p.L638H	BCL11A_ENST00000356842.4_Missense_Mutation_p.L638H|BCL11A_ENST00000477659.1_5'UTR|BCL11A_ENST00000538214.1_Missense_Mutation_p.L604H|BCL11A_ENST00000358510.4_Missense_Mutation_p.L604H|BCL11A_ENST00000537768.1_Missense_Mutation_p.L307H|BCL11A_ENST00000359629.5_Intron	NM_022893.3	NP_075044.2	Q9H165	BC11A_HUMAN	B-cell CLL/lymphoma 11A (zinc finger protein)	638					B cell differentiation (GO:0030183)|negative regulation of axon extension (GO:0030517)|negative regulation of collateral sprouting (GO:0048671)|negative regulation of dendrite development (GO:2000171)|negative regulation of neuron projection development (GO:0010977)|negative regulation of protein homooligomerization (GO:0032463)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of collateral sprouting (GO:0048672)|positive regulation of neuron projection development (GO:0010976)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein sumoylation (GO:0016925)|regulation of dendrite development (GO:0050773)|T cell differentiation (GO:0030217)	cytoplasm (GO:0005737)|nuclear body (GO:0016604)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|transcription corepressor activity (GO:0003714)	p.L638H(2)		NS(1)|breast(6)|central_nervous_system(6)|endometrium(4)|kidney(1)|large_intestine(8)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	59			LUSC - Lung squamous cell carcinoma(5;9.29e-08)|Lung(5;1.34e-06)|Epithelial(17;0.0562)|all cancers(80;0.199)			CTCCTTCTCGAGCTTGATGCG	0.677			T	IGH@	B-CLL																																	uc002sae.1				Dom	yes		2	2p13	53335	T	B-cell CLL/lymphoma 11A			L	IGH@		B-CLL		2	Substitution - Missense(2)		lung(2)	central_nervous_system(6)|breast(3)|ovary(2)|skin(2)	13						c.(1912-1914)CTC>CAC		B-cell CLL/lymphoma 11A isoform 1							22.0	25.0	24.0					2																	60688134		2197	4297	6494	SO:0001583	missense	53335				negative regulation of axon extension|negative regulation of collateral sprouting|negative regulation of dendrite development|positive regulation of collateral sprouting|positive regulation of neuron projection development|positive regulation of transcription from RNA polymerase II promoter|protein sumoylation|regulation of dendrite development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|cytoplasm|nucleus|nucleus	nucleic acid binding|protein heterodimerization activity|protein homodimerization activity|zinc ion binding	g.chr2:60688134A>T	AJ404611	CCDS1861.1, CCDS1862.1, CCDS46295.1	2p16.1	2013-01-08	2002-05-08		ENSG00000119866	ENSG00000119866		"""Zinc fingers, C2H2-type"""	13221	protein-coding gene	gene with protein product		606557	"""ecotropic viral integration site 9"""	EVI9		11719382, 18245381	Standard	NM_018014		Approved	BCL11A-XL, BCL11A-L, BCL11A-S, CTIP1, HBFQTL5, ZNF856	uc002sae.1	Q9H165	OTTHUMG00000129420	ENST00000335712.6:c.1913T>A	2.37:g.60688134A>T	ENSP00000338774:p.Leu638His					BCL11A_uc002sab.2_Missense_Mutation_p.L638H|BCL11A_uc002sac.2_Intron|BCL11A_uc010ypi.1_Missense_Mutation_p.L307H|BCL11A_uc010ypj.1_Missense_Mutation_p.L604H|BCL11A_uc002sad.1_Missense_Mutation_p.L486H|BCL11A_uc002saf.1_Missense_Mutation_p.L604H	p.L638H	NM_022893	NP_075044	Q9H165	BC11A_HUMAN	LUSC - Lung squamous cell carcinoma(5;9.29e-08)|Lung(5;1.34e-06)|Epithelial(17;0.0562)|all cancers(80;0.199)		4	2141	-			638					D6W5D7|Q86W14|Q8WU92|Q96JL6|Q9H163|Q9H164|Q9H3G9|Q9NWA7	Missense_Mutation	SNP	ENST00000335712.6	37	c.1913T>A	CCDS1862.1	.	.	.	.	.	.	.	.	.	.	A	13.78	2.339466	0.41398	.	.	ENSG00000119866	ENST00000356842;ENST00000378117;ENST00000538214;ENST00000537768;ENST00000335712;ENST00000358510	T;T;T;T;T	0.10573	2.86;3.15;2.97;3.16;3.09	6.07	6.07	0.98685	.	0.502775	0.20612	N	0.088943	T	0.19685	0.0473	L	0.29908	0.895	0.58432	D	0.999993	D;D;D;D;D	0.89917	1.0;0.998;0.997;0.997;0.997	D;P;P;P;P	0.65573	0.936;0.84;0.873;0.864;0.894	T	0.08576	-1.0715	10	0.12430	T	0.62	-2.5929	16.6406	0.85098	1.0:0.0:0.0:0.0	.	604;307;604;638;638	F5H2Y4;B4DT16;Q9H165-6;Q9H165;D9YZV9	.;.;.;BC11A_HUMAN;.	H	638;663;604;307;638;604	ENSP00000349300:L638H;ENSP00000438303:L604H;ENSP00000443712:L307H;ENSP00000338774:L638H;ENSP00000351307:L604H	ENSP00000338774:L638H	L	-	2	0	BCL11A	60541638	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.339000	0.96797	2.326000	0.78906	0.533000	0.62120	CTC		PASS	0.677	BCL11A-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000251579.2	NM_022893		30	18	30	18	---	---	---	---
VPS54	51542	broad.mit.edu	37	2	64160937	64160937	+	Nonsense_Mutation	SNP	G	G	A			TCGA-66-2756-01A-01D-1522-08	TCGA-66-2756-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	472c95e6-eccb-4988-be16-fdace73b2ed8	ff4f5936-f847-42ad-aedf-6a6a7fff6002	g.chr2:64160937G>A	ENST00000272322.4	-	12	1763	c.1609C>T	c.(1609-1611)Caa>Taa	p.Q537*	VPS54_ENST00000409558.4_Nonsense_Mutation_p.Q525*|VPS54_ENST00000354504.3_Nonsense_Mutation_p.Q384*			Q9P1Q0	VPS54_HUMAN	vacuolar protein sorting 54 homolog (S. cerevisiae)	537					growth (GO:0040007)|homeostasis of number of cells within a tissue (GO:0048873)|musculoskeletal movement (GO:0050881)|neurofilament cytoskeleton organization (GO:0060052)|protein transport (GO:0015031)|retrograde transport, endosome to Golgi (GO:0042147)	GARP complex (GO:0000938)		p.Q537*(1)		endometrium(3)|kidney(4)|large_intestine(8)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)	27						GCATTTCTTTGAGAGGTAGTG	0.443																																						uc002scq.2																			1	Substitution - Nonsense(1)		lung(1)		0						c.(1609-1611)CAA>TAA		vacuolar protein sorting 54 isoform 1							148.0	131.0	137.0					2																	64160937		2203	4300	6503	SO:0001587	stop_gained	51542				protein transport|retrograde transport, endosome to Golgi			g.chr2:64160937G>A	AF102177	CCDS33208.1, CCDS46302.1	2p15-p14	2014-06-13	2006-12-19		ENSG00000143952	ENSG00000143952			18652	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 164"""	614633	"""vacuolar protein sorting 54 (yeast)"""			12039048	Standard	NM_016516		Approved	HCC8, PPP1R164	uc002scq.3	Q9P1Q0	OTTHUMG00000152627	ENST00000272322.4:c.1609C>T	2.37:g.64160937G>A	ENSP00000272322:p.Gln537*					VPS54_uc002scp.2_Nonsense_Mutation_p.Q525*|VPS54_uc002sco.2_Nonsense_Mutation_p.Q22*|VPS54_uc010fct.2_Nonsense_Mutation_p.Q384*	p.Q537*	NM_016516	NP_057600	Q9P1Q0	VPS54_HUMAN			12	1772	-			537					Q5VIR5|Q86YF7|Q8N6G3|Q9NPV0|Q9NT07|Q9NUJ0	Nonsense_Mutation	SNP	ENST00000272322.4	37	c.1609C>T	CCDS33208.1	.	.	.	.	.	.	.	.	.	.	G	42	9.577701	0.99210	.	.	ENSG00000143952	ENST00000354504;ENST00000272322;ENST00000409558;ENST00000483277;ENST00000394400	.	.	.	5.27	4.38	0.52667	.	0.398249	0.28921	N	0.013702	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.07990	T	0.79	.	15.8167	0.78608	0.0:0.1364:0.8636:0.0	.	.	.	.	X	384;537;525;525;537	.	ENSP00000272322:Q537X	Q	-	1	0	VPS54	64014441	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	5.688000	0.68227	1.195000	0.43115	0.563000	0.77884	CAA		PASS	0.443	VPS54-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327062.2	NM_016516		38	83	38	83	---	---	---	---
ARHGAP25	9938	broad.mit.edu	37	2	69002433	69002433	+	Missense_Mutation	SNP	A	A	G			TCGA-66-2756-01A-01D-1522-08	TCGA-66-2756-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	472c95e6-eccb-4988-be16-fdace73b2ed8	ff4f5936-f847-42ad-aedf-6a6a7fff6002	g.chr2:69002433A>G	ENST00000295381.3	+	2	561	c.142A>G	c.(142-144)Atc>Gtc	p.I48V	ARHGAP25_ENST00000409202.3_Missense_Mutation_p.I48V|ARHGAP25_ENST00000497079.1_Missense_Mutation_p.I41V|ARHGAP25_ENST00000544262.1_Missense_Mutation_p.I22V|ARHGAP25_ENST00000409030.3_Missense_Mutation_p.I41V|ARHGAP25_ENST00000409220.1_Missense_Mutation_p.I41V|ARHGAP25_ENST00000467265.1_Missense_Mutation_p.I48V|ARHGAP25_ENST00000456116.2_3'UTR	NM_001007231.2	NP_001007232.2	P42331	RHG25_HUMAN	Rho GTPase activating protein 25	48	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	GTPase activator activity (GO:0005096)	p.I41V(1)|p.I48V(1)		breast(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(20)|ovary(3)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1)	52						GGAGAGGCCCATCAAGATGGG	0.562																																						uc002seu.2																			2	Substitution - Missense(2)		lung(2)	ovary(2)|breast(2)	4						c.(142-144)ATC>GTC		Rho GTPase activating protein 25 isoform a							172.0	180.0	177.0					2																	69002433		2203	4300	6503	SO:0001583	missense	9938				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity	g.chr2:69002433A>G	D29642	CCDS33214.1, CCDS46312.1, CCDS33214.2, CCDS54363.1, CCDS54364.1	2p13.3	2013-01-10			ENSG00000163219	ENSG00000163219		"""Rho GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"""	28951	protein-coding gene	gene with protein product		610587				7584044	Standard	NM_001007231		Approved	KIAA0053	uc010fdg.3	P42331	OTTHUMG00000152621	ENST00000295381.3:c.142A>G	2.37:g.69002433A>G	ENSP00000295381:p.Ile48Val					ARHGAP25_uc010yqk.1_Missense_Mutation_p.I22V|ARHGAP25_uc010fdg.2_Missense_Mutation_p.I48V|ARHGAP25_uc010yql.1_Missense_Mutation_p.I48V|ARHGAP25_uc002sev.2_Missense_Mutation_p.I41V|ARHGAP25_uc002sew.2_Missense_Mutation_p.I41V|ARHGAP25_uc002sex.2_Missense_Mutation_p.I41V|ARHGAP25_uc010fdh.1_RNA	p.I48V	NM_001007231	NP_001007232	P42331	RHG25_HUMAN			2	506	+			48			PH.		A8K2Y1|B7Z498|E9PFQ7|G5E9G2|Q8IXQ2	Missense_Mutation	SNP	ENST00000295381.3	37	c.142A>G		.	.	.	.	.	.	.	.	.	.	A	13.93	2.384454	0.42308	.	.	ENSG00000163219	ENST00000544262;ENST00000295381;ENST00000409202;ENST00000467265;ENST00000409030;ENST00000409220;ENST00000482106;ENST00000497079;ENST00000543533	T;T;T;T;T;T;T	0.12774	2.65;2.65;2.65;2.65;2.65;2.65;2.65	5.58	3.3	0.37823	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.218038	0.39909	N	0.001224	T	0.04227	0.0117	N	0.04669	-0.19	0.30725	N	0.747831	B;B;B;B;B;B;B	0.12013	0.005;0.0;0.0;0.0;0.0;0.0;0.0	B;B;B;B;B;B;B	0.10450	0.005;0.003;0.0;0.0;0.0;0.001;0.001	T	0.37731	-0.9693	10	0.02654	T	1	.	4.8704	0.13629	0.5582:0.2508:0.191:0.0	.	48;22;48;41;41;41;48	E9PFQ7;B7Z8K7;P42331-4;G5E9G2;P42331-3;P42331-2;P42331	.;.;.;.;.;.;RHG25_HUMAN	V	22;48;48;48;41;41;41;41;41	ENSP00000439917:I22V;ENSP00000295381:I48V;ENSP00000386911:I48V;ENSP00000420583:I48V;ENSP00000386863:I41V;ENSP00000386241:I41V;ENSP00000417139:I41V	ENSP00000295381:I48V	I	+	1	0	ARHGAP25	68855937	0.490000	0.26012	1.000000	0.80357	0.998000	0.95712	1.193000	0.32162	0.948000	0.37687	0.460000	0.39030	ATC		PASS	0.562	ARHGAP25-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_014882		60	168	60	168	---	---	---	---
ZNF638	27332	broad.mit.edu	37	2	71607696	71607696	+	Splice_Site	SNP	G	G	T			TCGA-66-2756-01A-01D-1522-08	TCGA-66-2756-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	472c95e6-eccb-4988-be16-fdace73b2ed8	ff4f5936-f847-42ad-aedf-6a6a7fff6002	g.chr2:71607696G>T	ENST00000409544.1	+	10	3007		c.e10+1		RNU6-105P_ENST00000363909.1_RNA|ZNF638_ENST00000377802.2_Splice_Site|ZNF638_ENST00000264447.4_Splice_Site|ZNF638_ENST00000355812.3_Splice_Site|ZNF638_ENST00000410075.1_Splice_Site	NM_001252612.1	NP_001239541.1	Q14966	ZN638_HUMAN	zinc finger protein 638						regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	double-stranded DNA binding (GO:0003690)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)	p.?(1)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|lung(28)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|urinary_tract(1)	63						ACTTCTGCTGGTAAGTTGTTA	0.308																																						uc002shx.2																			1	Unknown(1)		lung(1)	pancreas(2)|ovary(1)|skin(1)	4						c.e10+1		zinc finger protein 638							61.0	56.0	57.0					2																	71607696		2200	4296	6496	SO:0001630	splice_region_variant	27332				RNA splicing	cytoplasm|nuclear speck	double-stranded DNA binding|nucleotide binding|RNA binding|zinc ion binding	g.chr2:71607696G>T	D83032	CCDS1917.1	2p13.1	2013-02-12	2004-07-29	2004-07-30	ENSG00000075292	ENSG00000075292		"""RNA binding motif (RRM) containing"""	17894	protein-coding gene	gene with protein product		614349	"""zinc finger, matrin-like"""	ZFML		8647861	Standard	NM_014497		Approved	NP220, MGC26130, Zfp638	uc002shy.3	Q14966	OTTHUMG00000129735	ENST00000409544.1:c.2377+1G>T	2.37:g.71607696G>T						ZNF638_uc010fec.2_Splice_Site_p.E899_splice|ZNF638_uc010yqw.1_Splice_Site_p.A372_splice|ZNF638_uc002shw.2_Splice_Site_p.G793_splice|ZNF638_uc002shy.2_Splice_Site_p.A793_splice|ZNF638_uc002shz.2_Splice_Site_p.A793_splice|ZNF638_uc002sia.2_Splice_Site_p.A793_splice|ZNF638_uc002sib.1_Splice_Site_p.A793_splice|ZNF638_uc010fed.2_Splice_Site	p.A793_splice	NM_014497	NP_055312	Q14966	ZN638_HUMAN			10	2696	+								B5MDV1|B7ZLD1|Q53R34|Q5XJ05|Q68DP3|Q6P2H2|Q7Z3T7|Q8NF92|Q8TCA1|Q9H2G1|Q9NP37	Splice_Site	SNP	ENST00000409544.1	37	c.2377_splice	CCDS1917.1	.	.	.	.	.	.	.	.	.	.	G	15.47	2.844369	0.51164	.	.	ENSG00000075292	ENST00000410075;ENST00000544512;ENST00000394137;ENST00000355812;ENST00000377802;ENST00000264447;ENST00000409544	.	.	.	4.42	4.42	0.53409	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.8403	0.57797	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	ZNF638	71461204	1.000000	0.71417	0.995000	0.50966	0.870000	0.49936	4.082000	0.57635	2.750000	0.94351	0.585000	0.79938	.		PASS	0.308	ZNF638-002	NOVEL	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000327431.1	NM_014497	Intron	14	45	14	45	---	---	---	---
M1AP	130951	broad.mit.edu	37	2	74802644	74802644	+	Missense_Mutation	SNP	G	G	A			TCGA-66-2756-01A-01D-1522-08	TCGA-66-2756-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	472c95e6-eccb-4988-be16-fdace73b2ed8	ff4f5936-f847-42ad-aedf-6a6a7fff6002	g.chr2:74802644G>A	ENST00000290536.5	-	7	1111	c.995C>T	c.(994-996)cCt>cTt	p.P332L	M1AP_ENST00000536235.1_Missense_Mutation_p.P332L|M1AP_ENST00000409585.1_Missense_Mutation_p.P332L|M1AP_ENST00000464686.1_5'UTR|M1AP_ENST00000358434.2_Missense_Mutation_p.P50L	NM_001281296.1|NM_138804.3	NP_001268225.1|NP_620159.2	Q8TC57	M1AP_HUMAN	meiosis 1 associated protein	332					cell differentiation (GO:0030154)|chromatin assembly (GO:0031497)|female gamete generation (GO:0007292)|male meiosis chromosome separation (GO:0051308)|RNA processing (GO:0006396)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)		p.P332L(1)									ACAGCTTGTAGGTCTGAGGAT	0.493																																						uc002smy.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|pancreas(1)	2						c.(994-996)CCT>CTT		hypothetical protein LOC130951							132.0	123.0	126.0					2																	74802644		2203	4300	6503	SO:0001583	missense	130951				chromatin assembly|female gamete generation|RNA processing|spermatogenesis	integral to membrane		g.chr2:74802644G>A		CCDS33229.1, CCDS62941.1	2p13.1	2013-02-05	2013-02-05	2013-01-16	ENSG00000159374	ENSG00000159374			25183	protein-coding gene	gene with protein product	"""meiosis 1 arresting protein"", ""spermatogenesis associated 37"""		"""chromosome 2 open reading frame 65"""	C2orf65		16881047, 23269666	Standard	NM_138804		Approved	D6Mm5e, SPATA37	uc002smy.3	Q8TC57	OTTHUMG00000152918	ENST00000290536.5:c.995C>T	2.37:g.74802644G>A	ENSP00000290536:p.Pro332Leu					C2orf65_uc010ysa.1_Missense_Mutation_p.P332L|C2orf65_uc002smz.2_Missense_Mutation_p.P332L|C2orf65_uc010ffp.2_Missense_Mutation_p.P50L|C2orf65_uc002smx.2_Missense_Mutation_p.P88L	p.P332L	NM_138804	NP_620159	Q8TC57	CB065_HUMAN			7	1112	-			332					B7Z6E7|E9PGG8|Q6ZP30|Q96L07	Missense_Mutation	SNP	ENST00000290536.5	37	c.995C>T	CCDS33229.1	.	.	.	.	.	.	.	.	.	.	G	24.3	4.521245	0.85600	.	.	ENSG00000159374	ENST00000290536;ENST00000409585;ENST00000536235;ENST00000358434	T;T;T;T	0.47869	0.83;0.83;0.83;0.83	4.96	4.96	0.65561	.	0.000000	0.85682	D	0.000000	T	0.66723	0.2818	M	0.71581	2.175	0.52501	D	0.999959	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.91635	0.999;0.998;0.999;0.999;0.999	T	0.69606	-0.5100	10	0.72032	D	0.01	-14.2028	13.5675	0.61826	0.0:0.0:1.0:0.0	.	332;50;332;332;88	E9PGG8;Q8TC57-3;Q8TC57-2;Q8TC57;B3KX03	.;.;.;CB065_HUMAN;.	L	332;332;332;50	ENSP00000290536:P332L;ENSP00000386793:P332L;ENSP00000445662:P332L;ENSP00000351213:P50L	ENSP00000290536:P332L	P	-	2	0	C2orf65	74656152	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.747000	0.85070	2.550000	0.86006	0.655000	0.94253	CCT		PASS	0.493	M1AP-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000328569.1	NM_138804		64	129	64	129	---	---	---	---
REG3A	5068	broad.mit.edu	37	2	79385853	79385853	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2756-01A-01D-1522-08	TCGA-66-2756-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	472c95e6-eccb-4988-be16-fdace73b2ed8	ff4f5936-f847-42ad-aedf-6a6a7fff6002	g.chr2:79385853C>A	ENST00000409839.3	-	3	155	c.119G>T	c.(118-120)tGt>tTt	p.C40F	AC011754.1_ENST00000415201.1_RNA|REG3A_ENST00000393878.1_Missense_Mutation_p.C40F|REG3A_ENST00000305165.2_Missense_Mutation_p.C40F	NM_002580.2|NM_138937.2	NP_002571.1|NP_620354.1	Q06141	REG3A_HUMAN	regenerating islet-derived 3 alpha	40					acute-phase response (GO:0006953)|cell proliferation (GO:0008283)|heterophilic cell-cell adhesion (GO:0007157)|multicellular organismal development (GO:0007275)|negative regulation of keratinocyte differentiation (GO:0045617)|positive regulation of keratinocyte proliferation (GO:0010838)|positive regulation of wound healing (GO:0090303)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)	carbohydrate binding (GO:0030246)	p.C40F(1)		breast(2)|large_intestine(4)|lung(41)|prostate(2)|skin(1)	50						GCCTTTGGGACAGCGGATCCG	0.547																																						uc002sod.1																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(118-120)TGT>TTT		pancreatitis-associated protein precursor							96.0	87.0	90.0					2																	79385853		2203	4300	6503	SO:0001583	missense	5068				acute-phase response|cell proliferation|heterophilic cell-cell adhesion|multicellular organismal development	cytoplasm|extracellular space|soluble fraction	sugar binding	g.chr2:79385853C>A	S51768	CCDS1965.1	2p12	2008-02-05	2005-02-11	2005-02-11	ENSG00000172016	ENSG00000172016			8601	protein-coding gene	gene with protein product		167805	"""pancreatitis-associated protein"""	PAP		8188210	Standard	NM_002580		Approved	HIP, REG-III, REG3, PBCGF, PAP1	uc002sof.2	Q06141	OTTHUMG00000130017	ENST00000409839.3:c.119G>T	2.37:g.79385853C>A	ENSP00000386630:p.Cys40Phe					REG3A_uc002soe.1_Missense_Mutation_p.C40F|REG3A_uc002sof.1_Missense_Mutation_p.C40F	p.C40F	NM_138938	NP_620355	Q06141	REG3A_HUMAN			2	374	-			40			C-type lectin.			Missense_Mutation	SNP	ENST00000409839.3	37	c.119G>T	CCDS1965.1	.	.	.	.	.	.	.	.	.	.	C	14.01	2.408693	0.42715	.	.	ENSG00000172016	ENST00000409839;ENST00000393878;ENST00000305165	T;T;T	0.51574	0.7;0.7;0.7	3.83	3.83	0.44106	C-type lectin fold (1);C-type lectin-like (1);C-type lectin (1);	0.000000	0.64402	D	0.000013	T	0.78868	0.4351	H	0.98426	4.23	0.42558	D	0.993139	D	0.89917	1.0	D	0.85130	0.997	D	0.85567	0.1231	10	0.87932	D	0	.	11.5945	0.50964	0.0:1.0:0.0:0.0	.	40	Q06141	REG3A_HUMAN	F	40	ENSP00000386630:C40F;ENSP00000377456:C40F;ENSP00000304311:C40F	ENSP00000304311:C40F	C	-	2	0	REG3A	79239361	0.947000	0.32204	0.940000	0.37924	0.022000	0.10575	3.105000	0.50314	2.443000	0.82685	0.597000	0.82753	TGT		PASS	0.547	REG3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252290.2	NM_002580		48	27	48	27	---	---	---	---
POLR1A	25885	broad.mit.edu	37	2	86258514	86258514	+	Missense_Mutation	SNP	C	C	A	rs371198043		TCGA-66-2756-01A-01D-1522-08	TCGA-66-2756-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	472c95e6-eccb-4988-be16-fdace73b2ed8	ff4f5936-f847-42ad-aedf-6a6a7fff6002	g.chr2:86258514C>A	ENST00000263857.6	-	30	4895	c.4517G>T	c.(4516-4518)cGt>cTt	p.R1506L	POLR1A_ENST00000409681.1_Intron			O95602	RPA1_HUMAN	polymerase (RNA) I polypeptide A, 194kDa	1506					gene expression (GO:0010467)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription from RNA polymerase I promoter (GO:0006360)|transcription initiation from RNA polymerase I promoter (GO:0006361)	cytoplasm (GO:0005737)|DNA-directed RNA polymerase I complex (GO:0005736)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)|zinc ion binding (GO:0008270)	p.R1506H(1)|p.R1506L(1)		NS(1)|breast(4)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(12)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	63						GTGGATCTCACGCACAGCCTG	0.677																																						uc002sqs.2																			2	Substitution - Missense(2)		upper_aerodigestive_tract(1)|lung(1)	ovary(2)|skin(1)	3						c.(4516-4518)CGT>CTT		DNA-directed RNA polymerase I A		C	LEU/ARG	1,4147		0,1,2073	110.0	119.0	116.0		4517	4.2	0.6	2		116	0,8392		0,0,4196	no	missense	POLR1A	NM_015425.3	102	0,1,6269	AA,AC,CC		0.0,0.0241,0.0080	benign	1506/1721	86258514	1,12539	2074	4196	6270	SO:0001583	missense	25885				termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter	DNA-directed RNA polymerase I complex|nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|protein binding|zinc ion binding	g.chr2:86258514C>A	AK025568	CCDS42706.1	2p11.2	2013-01-21			ENSG00000068654	ENSG00000068654		"""RNA polymerase subunits"""	17264	protein-coding gene	gene with protein product						9236775	Standard	NM_015425		Approved	DKFZP586M0122, FLJ21915, RPO1-4, RPA1	uc002sqs.3	O95602	OTTHUMG00000153165	ENST00000263857.6:c.4517G>T	2.37:g.86258514C>A	ENSP00000263857:p.Arg1506Leu					POLR1A_uc010ytb.1_Missense_Mutation_p.R872L	p.R1506L	NM_015425	NP_056240	O95602	RPA1_HUMAN			30	4896	-			1506					B7Z7T0|D6W5M0|Q0VG05|Q9UEH0|Q9UFT9	Missense_Mutation	SNP	ENST00000263857.6	37	c.4517G>T	CCDS42706.1	.	.	.	.	.	.	.	.	.	.	C	12.13	1.846883	0.32606	2.41E-4	0.0	ENSG00000068654	ENST00000263857	T	0.65732	-0.17	5.11	4.22	0.49857	RNA polymerase Rpb1, domain 5 (1);	0.275121	0.35040	N	0.003487	T	0.28200	0.0696	N	0.01417	-0.88	0.24293	N	0.995159	B	0.09022	0.002	B	0.11329	0.006	T	0.10359	-1.0633	10	0.24483	T	0.36	-0.7325	6.41	0.21686	0.3106:0.5995:0.0:0.0898	.	1506	O95602	RPA1_HUMAN	L	1506	ENSP00000263857:R1506L	ENSP00000263857:R1506L	R	-	2	0	POLR1A	86112025	0.007000	0.16637	0.570000	0.28473	0.584000	0.36387	1.598000	0.36740	2.534000	0.85438	0.555000	0.69702	CGT		PASS	0.677	POLR1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329830.2	NM_015425		82	160	82	160	---	---	---	---
IGKV2-24	28923	broad.mit.edu	37	2	89476590	89476590	+	RNA	SNP	C	C	A			TCGA-66-2756-01A-01D-1522-08	TCGA-66-2756-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	472c95e6-eccb-4988-be16-fdace73b2ed8	ff4f5936-f847-42ad-aedf-6a6a7fff6002	g.chr2:89476590C>A	ENST00000484817.1	-	0	54									immunoglobulin kappa variable 2-24																		ATTAGCAGCCCCAGAAGCTGA	0.542																																						uc010ytr.1																			0													Parts of antibodies, mostly variable regions.							16.0	18.0	17.0					2																	89476590		1454	3488	4942			0							g.chr2:89476590C>A	X12684		2p11.2	2012-02-08			ENSG00000241294	ENSG00000241294		"""Immunoglobulins / IGK locus"""	5781	other	immunoglobulin gene							Standard	NG_000834		Approved				OTTHUMG00000151655		2.37:g.89476590C>A						uc002stl.2_Intron								27		-									RNA	SNP	ENST00000484817.1	37	c.3334G>T																																																																																					PASS	0.542	IGKV2-24-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IG_V_gene	OTTHUMT00000323404.1	NG_000834		6	13	6	13	---	---	---	---
IGKV3D-15	28875	broad.mit.edu	37	2	90154149	90154149	+	RNA	SNP	C	C	A			TCGA-66-2756-01A-01D-1522-08	TCGA-66-2756-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	472c95e6-eccb-4988-be16-fdace73b2ed8	ff4f5936-f847-42ad-aedf-6a6a7fff6002	g.chr2:90154149C>A	ENST00000417279.2	+	0	285									immunoglobulin kappa variable 3D-15 (gene/pseudogene)																		ACTGGCATCCCAGCCAGGTTC	0.532																																						uc010fhm.2																			0													Parts of antibodies, mostly variable regions.							18.0	19.0	18.0					2																	90154149		1840	4060	5900			0							g.chr2:90154149C>A	X72815		2p11.2	2012-02-08	2008-09-12		ENSG00000224041	ENSG00000224041		"""Immunoglobulins / IGK locus"""	5824	other	immunoglobulin gene			"""immunoglobulin kappa variable 3D-15"""				Standard	NG_000833		Approved				OTTHUMG00000151568		2.37:g.90154149C>A														20		+									RNA	SNP	ENST00000417279.2	37	c.2614C>A																																																																																					PASS	0.532	IGKV3D-15-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IG_V_gene	OTTHUMT00000323143.2	NG_000833		38	53	38	53	---	---	---	---
ACTR1B	10120	broad.mit.edu	37	2	98274445	98274445	+	Missense_Mutation	SNP	C	C	T	rs138142670	byFrequency	TCGA-66-2756-01A-01D-1522-08	TCGA-66-2756-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	472c95e6-eccb-4988-be16-fdace73b2ed8	ff4f5936-f847-42ad-aedf-6a6a7fff6002	g.chr2:98274445C>T	ENST00000289228.5	-	8	1102	c.886G>A	c.(886-888)Gcc>Acc	p.A296T		NM_005735.3	NP_005726.1	P42025	ACTY_HUMAN	ARP1 actin-related protein 1 homolog B, centractin beta (yeast)	296					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dynactin complex (GO:0005869)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	ATP binding (GO:0005524)	p.A296T(1)		endometrium(1)|large_intestine(5)|lung(7)|ovary(1)|skin(1)	15						ACGATGTTGGCGAACAGCGTC	0.607													C|||	4	0.000798722	0.003	0.0	5008	,	,		16978	0.0		0.0	False		,,,				2504	0.0					uc002syb.2																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(886-888)GCC>ACC		ARP1 actin-related protein 1 homolog B,		C	THR/ALA	3,4403		0,3,2200	92.0	83.0	86.0		886	1.5	0.9	2	dbSNP_134	86	2,8598		0,2,4298	no	missense	ACTR1B	NM_005735.3	58	0,5,6498	TT,TC,CC		0.0233,0.0681,0.0384	benign	296/377	98274445	5,13001	2203	4300	6503	SO:0001583	missense	10120					centrosome|dynactin complex	ATP binding|protein binding	g.chr2:98274445C>T	X82207	CCDS2033.1	2q11.1-q11.2	2008-05-20	2001-11-28		ENSG00000115073	ENSG00000115073			168	protein-coding gene	gene with protein product		605144	"""ARP1 (actin-related protein 1, yeast) homolog B (centractin beta)"""	CTRN2		7696711, 10343100	Standard	NM_005735		Approved		uc002syb.2	P42025	OTTHUMG00000130549	ENST00000289228.5:c.886G>A	2.37:g.98274445C>T	ENSP00000289228:p.Ala296Thr						p.A296T	NM_005735	NP_005726	P42025	ACTY_HUMAN			8	1094	-			296					D3DVH2|Q53SK5|Q9BRB7	Missense_Mutation	SNP	ENST00000289228.5	37	c.886G>A	CCDS2033.1	.	.	.	.	.	.	.	.	.	.	.	14.18	2.458219	0.43634	6.81E-4	2.33E-4	ENSG00000115073	ENST00000289228	T	0.08370	3.1	4.46	1.45	0.22620	.	0.385803	0.23710	N	0.045321	T	0.06325	0.0163	N	0.21448	0.665	0.29940	N	0.821183	B	0.02656	0.0	B	0.08055	0.003	T	0.12734	-1.0536	10	0.72032	D	0.01	.	11.3849	0.49778	0.6562:0.3438:0.0:0.0	.	296	P42025	ACTY_HUMAN	T	296	ENSP00000289228:A296T	ENSP00000289228:A296T	A	-	1	0	ACTR1B	97640877	0.993000	0.37304	0.867000	0.34043	0.961000	0.63080	1.031000	0.30165	0.087000	0.17167	0.655000	0.94253	GCC		PASS	0.607	ACTR1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252973.1	NM_005735		39	200	39	200	---	---	---	---
CNGA3	1261	broad.mit.edu	37	2	99013001	99013001	+	Silent	SNP	G	G	C	rs369892428		TCGA-66-2756-01A-01D-1522-08	TCGA-66-2756-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	472c95e6-eccb-4988-be16-fdace73b2ed8	ff4f5936-f847-42ad-aedf-6a6a7fff6002	g.chr2:99013001G>C	ENST00000272602.2	+	7	1407	c.1368G>C	c.(1366-1368)gtG>gtC	p.V456V	CNGA3_ENST00000436404.2_Silent_p.V438V|CNGA3_ENST00000409937.1_Silent_p.V460V|CNGA3_ENST00000393504.1_Silent_p.V456V			Q16281	CNGA3_HUMAN	cyclic nucleotide gated channel alpha 3	456					cation transport (GO:0006812)|phototransduction, visible light (GO:0007603)|potassium ion transmembrane transport (GO:0071805)|regulation of membrane potential (GO:0042391)|response to cAMP (GO:0051591)|response to corticosteroid (GO:0031960)|response to magnesium ion (GO:0032026)|retinal cone cell development (GO:0046549)|signal transduction (GO:0007165)|transport (GO:0006810)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|perikaryon (GO:0043204)|photoreceptor outer segment membrane (GO:0042622)|transmembrane transporter complex (GO:1902495)	cGMP binding (GO:0030553)|intracellular cAMP activated cation channel activity (GO:0005222)|intracellular cGMP activated cation channel activity (GO:0005223)|ligand-gated ion channel activity (GO:0015276)|voltage-gated potassium channel activity (GO:0005249)	p.V456V(1)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(10)|lung(17)|ovary(5)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)	49						AGAAGGAGGTGCTCAAGAGCC	0.567																																						uc002syt.2																			1	Substitution - coding silent(1)		lung(1)	ovary(5)|upper_aerodigestive_tract(1)	6						c.(1366-1368)GTG>GTC		cyclic nucleotide gated channel alpha 3 isoform							62.0	59.0	60.0					2																	99013001		2203	4300	6503	SO:0001819	synonymous_variant	1261				signal transduction|visual perception	integral to membrane	cGMP binding	g.chr2:99013001G>C	S76069	CCDS2034.1, CCDS42719.1	2q11.2	2013-01-08			ENSG00000144191	ENSG00000144191		"""Voltage-gated ion channels / Cyclic nucleotide-regulated channels"""	2150	protein-coding gene	gene with protein product		600053		CNCG3, ACHM2		7532814, 9517456, 16382102	Standard	NM_001298		Approved	CCNC1, CCNCa, CNG3	uc002syt.3	Q16281	OTTHUMG00000130561	ENST00000272602.2:c.1368G>C	2.37:g.99013001G>C						CNGA3_uc002syu.2_Silent_p.V438V|CNGA3_uc010fij.2_Silent_p.V460V	p.V456V	NM_001298	NP_001289	Q16281	CNGA3_HUMAN			8	1785	+			456					E9PF93|Q4VAP7|Q53RD2|Q6ZNA7|Q9UP64	Silent	SNP	ENST00000272602.2	37	c.1368G>C	CCDS2034.1																																																																																				PASS	0.567	CNGA3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252986.1	NM_001298		58	27	58	27	---	---	---	---
MFSD9	84804	broad.mit.edu	37	2	103335075	103335075	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2756-01A-01D-1522-08	TCGA-66-2756-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	472c95e6-eccb-4988-be16-fdace73b2ed8	ff4f5936-f847-42ad-aedf-6a6a7fff6002	g.chr2:103335075G>T	ENST00000258436.5	-	6	1272	c.1229C>A	c.(1228-1230)aCc>aAc	p.T410N	MFSD9_ENST00000496253.1_5'Flank	NM_032718.3	NP_116107.3	Q8NBP5	MFSD9_HUMAN	major facilitator superfamily domain containing 9	410					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)	p.T410N(1)		breast(3)|large_intestine(7)|liver(1)|lung(6)|ovary(2)|skin(1)	20						GCCAATAAGGGTGCCGCTGGC	0.672																																						uc002tcb.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|breast(2)	4						c.(1228-1230)ACC>AAC		major facilitator superfamily domain containing							24.0	29.0	27.0					2																	103335075		2203	4299	6502	SO:0001583	missense	84804				transmembrane transport	integral to membrane|plasma membrane	transporter activity	g.chr2:103335075G>T		CCDS2063.1	2q12.1	2007-01-12			ENSG00000135953	ENSG00000135953			28158	protein-coding gene	gene with protein product							Standard	NM_032718		Approved	MGC11332	uc002tcb.2	Q8NBP5	OTTHUMG00000130781	ENST00000258436.5:c.1229C>A	2.37:g.103335075G>T	ENSP00000258436:p.Thr410Asn					MFSD9_uc010fja.2_RNA	p.T410N	NM_032718	NP_116107	Q8NBP5	MFSD9_HUMAN			6	1297	-			410					Q4ZG89|Q53TU0|Q96GQ4|Q9BRI8	Missense_Mutation	SNP	ENST00000258436.5	37	c.1229C>A	CCDS2063.1	.	.	.	.	.	.	.	.	.	.	G	18.42	3.620257	0.66787	.	.	ENSG00000135953	ENST00000258436	D	0.82984	-1.67	5.03	3.2	0.36748	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.221539	0.46442	D	0.000295	D	0.84042	0.5385	M	0.68952	2.095	0.42964	D	0.994413	D	0.56287	0.975	P	0.55455	0.776	T	0.79455	-0.1796	10	0.18276	T	0.48	-16.4765	7.8508	0.29453	0.1481:0.1343:0.7176:0.0	.	410	Q8NBP5	MFSD9_HUMAN	N	410	ENSP00000258436:T410N	ENSP00000258436:T410N	T	-	2	0	MFSD9	102701507	1.000000	0.71417	0.154000	0.22540	0.773000	0.43773	5.177000	0.65032	0.608000	0.30000	0.650000	0.86243	ACC		PASS	0.672	MFSD9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253295.2	NM_032718		11	21	11	21	---	---	---	---
C2orf40	84417	broad.mit.edu	37	2	106690371	106690371	+	Missense_Mutation	SNP	G	G	A	rs191272593	byFrequency	TCGA-66-2756-01A-01D-1522-08	TCGA-66-2756-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	472c95e6-eccb-4988-be16-fdace73b2ed8	ff4f5936-f847-42ad-aedf-6a6a7fff6002	g.chr2:106690371G>A	ENST00000238044.3	+	3	266	c.157G>A	c.(157-159)Gtt>Att	p.V53I	C2orf40_ENST00000489174.1_3'UTR|C2orf40_ENST00000409944.1_Missense_Mutation_p.V17I	NM_032411.2	NP_115787.1	Q9H1Z8	AUGN_HUMAN	chromosome 2 open reading frame 40	53					cellular senescence (GO:0090398)|cyclin catabolic process (GO:0008054)|G1 to G0 transition (GO:0070314)	cytoplasmic vesicle (GO:0031410)|extracellular space (GO:0005615)		p.V53I(1)		lung(7)|urinary_tract(1)	8						TAAAGTGGCCGTTGATGAGAA	0.527													.|||	7	0.00139776	0.0	0.0	5008	,	,		20252	0.0		0.007	False		,,,				2504	0.0					uc010fjf.2																			1	Substitution - Missense(1)		lung(1)		0						c.(157-159)GTT>ATT		esophageal cancer related gene 4 protein		G	ILE/VAL	0,4406		0,0,2203	125.0	138.0	134.0		157	2.3	0.0	2		134	3,8597	3.0+/-9.4	0,3,4297	yes	missense	C2orf40	NM_032411.2	29	0,3,6500	AA,AG,GG		0.0349,0.0,0.0231	possibly-damaging	53/149	106690371	3,13003	2203	4300	6503	SO:0001583	missense	84417					extracellular region|transport vesicle		g.chr2:106690371G>A	BC021742	CCDS2072.1	2q12.2	2014-01-28			ENSG00000119147	ENSG00000119147			24642	protein-coding gene	gene with protein product	"""esophageal cancer related gene 4 protein"""	611752				12800218	Standard	NM_032411		Approved	ECRG4, augurin	uc010fjf.3	Q9H1Z8	OTTHUMG00000130921	ENST00000238044.3:c.157G>A	2.37:g.106690371G>A	ENSP00000238044:p.Val53Ile						p.V53I	NM_032411	NP_115787	Q9H1Z8	AUGN_HUMAN			3	265	+			53					D3DVK2	Missense_Mutation	SNP	ENST00000238044.3	37	c.157G>A	CCDS2072.1	7	0.003205128205128205	0	0.0	0	0.0	0	0.0	7	0.009234828496042216	G	13.59	2.283563	0.40394	0.0	3.49E-4	ENSG00000119147	ENST00000409944;ENST00000238044;ENST00000437659	T;T;T	0.52526	0.66;0.66;0.66	5.62	2.34	0.29019	.	0.345009	0.28641	N	0.014631	T	0.32164	0.0820	M	0.62016	1.91	0.09310	N	0.999998	P	0.38370	0.628	B	0.34931	0.192	T	0.17289	-1.0374	10	0.48119	T	0.1	-11.148	8.7413	0.34558	0.1643:0.1162:0.7195:0.0	.	53	Q9H1Z8	AUGN_HUMAN	I	17;53;55	ENSP00000386421:V17I;ENSP00000238044:V53I;ENSP00000388664:V55I	ENSP00000238044:V53I	V	+	1	0	C2orf40	106056803	0.818000	0.29161	0.023000	0.16930	0.098000	0.18820	1.616000	0.36933	0.151000	0.19162	-0.150000	0.13652	GTT		PASS	0.527	C2orf40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253515.2	NM_032411		76	103	76	103	---	---	---	---
STEAP3	55240	broad.mit.edu	37	2	120005289	120005289	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2756-01A-01D-1522-08	TCGA-66-2756-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	472c95e6-eccb-4988-be16-fdace73b2ed8	ff4f5936-f847-42ad-aedf-6a6a7fff6002	g.chr2:120005289G>T	ENST00000354888.5	+	4	1031	c.527G>T	c.(526-528)cGt>cTt	p.R176L	STEAP3-AS1_ENST00000454260.1_RNA|STEAP3_ENST00000425223.2_Missense_Mutation_p.R176L|STEAP3_ENST00000393106.2_Missense_Mutation_p.R176L|STEAP3_ENST00000393107.2_Missense_Mutation_p.R176L|STEAP3_ENST00000393108.2_Missense_Mutation_p.R176L|STEAP3_ENST00000409811.1_Missense_Mutation_p.R176L|STEAP3_ENST00000393110.2_Missense_Mutation_p.R186L|STEAP3_ENST00000450943.2_Missense_Mutation_p.R176L	NM_182915.2	NP_878919.2	Q658P3	STEA3_HUMAN	STEAP family member 3, metalloreductase	176					apoptotic process (GO:0006915)|cell cycle (GO:0007049)|cellular iron ion homeostasis (GO:0006879)|copper ion import (GO:0015677)|exosomal secretion (GO:1990182)|ferric iron import into cell (GO:0097461)|positive regulation of apoptotic process (GO:0043065)|positive regulation of intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:1902167)|protein secretion (GO:0009306)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)	endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)|multivesicular body (GO:0005771)|plasma membrane (GO:0005886)	cupric reductase activity (GO:0008823)|ferric-chelate reductase (NADPH) activity (GO:0052851)|ferric-chelate reductase activity (GO:0000293)|metal ion binding (GO:0046872)	p.R176L(1)		breast(1)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(2)|lung(4)|skin(1)	17						GAAGCCAAGCGTGCTGTCTCG	0.667																																						uc002tlp.2																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(2)|skin(1)	3						c.(526-528)CGT>CTT		dudulin 2 isoform b							25.0	27.0	26.0					2																	120005289		2203	4300	6503	SO:0001583	missense	55240				apoptosis|cell cycle|cellular iron ion homeostasis|protein secretion|transferrin transport|transmembrane transport	endosome membrane|integral to membrane|multivesicular body	electron carrier activity|flavin adenine dinucleotide binding|iron ion binding	g.chr2:120005289G>T	AY029585	CCDS2125.1, CCDS42738.1	2q14.2	2011-09-30	2011-09-30		ENSG00000115107	ENSG00000115107			24592	protein-coding gene	gene with protein product		609671				12606722	Standard	NM_182915		Approved	TSAP6, dudlin-2, STMP3	uc002tlr.3	Q658P3	OTTHUMG00000131402	ENST00000354888.5:c.527G>T	2.37:g.120005289G>T	ENSP00000346961:p.Arg176Leu					STEAP3_uc002tlq.2_Missense_Mutation_p.R186L|STEAP3_uc002tlr.2_Missense_Mutation_p.R176L|STEAP3_uc010fle.2_Missense_Mutation_p.R176L	p.R176L	NM_018234	NP_060704	Q658P3	STEA3_HUMAN			4	684	+			176			Cytoplasmic (Potential).		A8K6E3|Q4VBR2|Q4ZG36|Q53SQ8|Q7Z389|Q86SF6|Q8NEW6|Q8TDP3|Q8TF03|Q9NVB5	Missense_Mutation	SNP	ENST00000354888.5	37	c.527G>T	CCDS2125.1	.	.	.	.	.	.	.	.	.	.	G	13.02	2.113012	0.37242	.	.	ENSG00000115107	ENST00000393108;ENST00000354888;ENST00000450943;ENST00000393110;ENST00000393106;ENST00000409811;ENST00000393107;ENST00000425223	T;T;T;T;T;T;T;T	0.17854	2.25;2.25;2.25;2.25;2.25;2.25;2.25;2.25	4.59	1.78	0.24846	NAD(P)-binding domain (1);	0.332477	0.32563	N	0.005932	T	0.20740	0.0499	M	0.82132	2.575	0.37269	D	0.907327	B;B;B	0.22683	0.073;0.043;0.025	B;B;B	0.24155	0.051;0.049;0.013	T	0.06162	-1.0842	9	.	.	.	-12.5367	9.0632	0.36447	0.2361:0.0:0.7639:0.0	.	176;186;176	B8ZZX6;Q658P3-2;Q658P3	.;.;STEA3_HUMAN	L	176;176;176;186;176;176;176;176	ENSP00000376820:R176L;ENSP00000346961:R176L;ENSP00000396873:R176L;ENSP00000376822:R186L;ENSP00000376818:R176L;ENSP00000386510:R176L;ENSP00000376819:R176L;ENSP00000396214:R176L	.	R	+	2	0	STEAP3	119721759	0.894000	0.30519	0.278000	0.24718	0.749000	0.42624	1.510000	0.35790	0.186000	0.20125	0.558000	0.71614	CGT		PASS	0.667	STEAP3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254193.1	NM_018234		5	36	5	36	---	---	---	---
HS6ST1	9394	broad.mit.edu	37	2	129026314	129026314	+	Nonsense_Mutation	SNP	C	C	A			TCGA-66-2756-01A-01D-1522-08	TCGA-66-2756-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	472c95e6-eccb-4988-be16-fdace73b2ed8	ff4f5936-f847-42ad-aedf-6a6a7fff6002	g.chr2:129026314C>A	ENST00000259241.6	-	2	671	c.658G>T	c.(658-660)Gag>Tag	p.E220*		NM_004807.2	NP_004798.3	O60243	H6ST1_HUMAN	heparan sulfate 6-O-sulfotransferase 1	220					angiogenesis (GO:0001525)|carbohydrate metabolic process (GO:0005975)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan metabolic process (GO:0030203)|heparan sulfate proteoglycan biosynthetic process, enzymatic modification (GO:0015015)|labyrinthine layer blood vessel development (GO:0060716)|lung alveolus development (GO:0048286)|neuron development (GO:0048666)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)	heparan sulfate 6-O-sulfotransferase activity (GO:0017095)|sulfotransferase activity (GO:0008146)	p.E220*(1)		endometrium(3)|liver(1)|lung(7)|pancreas(1)|prostate(2)|skin(1)	15	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.117)		GGCGGCAGCTCCTCAGGCGTG	0.657																																						uc002tpt.3																			1	Substitution - Nonsense(1)		lung(1)	pancreas(1)	1						c.(658-660)GAG>TAG		heparan sulfate 6-O-sulfotransferase 1							53.0	65.0	61.0					2																	129026314		2172	4280	6452	SO:0001587	stop_gained	9394				heparan sulfate proteoglycan biosynthetic process, enzymatic modification	integral to plasma membrane	sulfotransferase activity	g.chr2:129026314C>A	AB006179	CCDS42748.1	2q21	2010-03-19		2002-08-23	ENSG00000136720	ENSG00000136720		"""Sulfotransferases, membrane-bound"""	5201	protein-coding gene	gene with protein product		604846		HS6ST		9535912	Standard	NM_004807		Approved		uc002tpt.4	O60243	OTTHUMG00000153542	ENST00000259241.6:c.658G>T	2.37:g.129026314C>A	ENSP00000259241:p.Glu220*						p.E220*	NM_004807	NP_004798	O60243	H6ST1_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.117)	2	692	-	Colorectal(110;0.1)		220			Lumenal (Potential).		B4DEP2|B4DJ29|Q53SL2|Q9BVI1	Nonsense_Mutation	SNP	ENST00000259241.6	37	c.658G>T	CCDS42748.1	.	.	.	.	.	.	.	.	.	.	C	18.27	3.587060	0.66105	.	.	ENSG00000136720	ENST00000259241	.	.	.	4.85	4.85	0.62838	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.9666	0.89101	0.0:1.0:0.0:0.0	.	.	.	.	X	220	.	.	E	-	1	0	HS6ST1	128742784	1.000000	0.71417	1.000000	0.80357	0.539000	0.34962	7.487000	0.81328	2.235000	0.73313	0.462000	0.41574	GAG		PASS	0.657	HS6ST1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331572.1	NM_004807		4	73	4	73	---	---	---	---
AMER3	205147	broad.mit.edu	37	2	131520279	131520279	+	Missense_Mutation	SNP	G	G	A	rs201458012		TCGA-66-2756-01A-01D-1522-08	TCGA-66-2756-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	472c95e6-eccb-4988-be16-fdace73b2ed8	ff4f5936-f847-42ad-aedf-6a6a7fff6002	g.chr2:131520279G>A	ENST00000423981.1	+	2	744	c.634G>A	c.(634-636)Ggc>Agc	p.G212S	AMER3_ENST00000321420.4_Missense_Mutation_p.G212S	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	212					Wnt signaling pathway (GO:0016055)	plasma membrane (GO:0005886)	lipid binding (GO:0008289)	p.G212S(1)									GGGGCTGGACGGCCTGTGCCA	0.692																																						uc002trw.2																			1	Substitution - Missense(1)		lung(1)	pancreas(2)|ovary(1)	3						c.(634-636)GGC>AGC		hypothetical protein LOC205147							28.0	35.0	33.0					2																	131520279		2190	4285	6475	SO:0001583	missense	205147							g.chr2:131520279G>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.634G>A	2.37:g.131520279G>A	ENSP00000392700:p.Gly212Ser					FAM123C_uc010fmv.2_Missense_Mutation_p.G212S|FAM123C_uc010fms.1_Missense_Mutation_p.G212S|FAM123C_uc010fmt.1_Missense_Mutation_p.G212S|FAM123C_uc010fmu.1_Missense_Mutation_p.G212S	p.G212S	NM_152698	NP_689911	Q8N944	F123C_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.13)	2	824	+	Colorectal(110;0.1)		212					B7ZLH6	Missense_Mutation	SNP	ENST00000423981.1	37	c.634G>A	CCDS2164.1	.	.	.	.	.	.	.	.	.	.	G	0.175	-1.067961	0.01934	.	.	ENSG00000178171	ENST00000321420;ENST00000423981	T;T	0.12984	2.63;2.63	5.21	-8.62	0.00881	.	0.874332	0.10091	N	0.717202	T	0.02688	0.0081	N	0.01267	-0.92	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.44590	-0.9318	10	0.07482	T	0.82	.	8.0694	0.30680	0.6114:0.0:0.2865:0.1021	.	212	Q8N944	F123C_HUMAN	S	212	ENSP00000314914:G212S;ENSP00000392700:G212S	ENSP00000314914:G212S	G	+	1	0	FAM123C	131236749	0.007000	0.16637	0.001000	0.08648	0.369000	0.29798	-0.247000	0.08866	-1.056000	0.03205	-0.340000	0.08031	GGC		PASS	0.692	AMER3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254531.3	NM_152698		20	45	20	45	---	---	---	---
POTEE	445582	broad.mit.edu	37	2	132021849	132021849	+	Missense_Mutation	SNP	G	G	C	rs543390483		TCGA-66-2756-01A-01D-1522-08	TCGA-66-2756-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	472c95e6-eccb-4988-be16-fdace73b2ed8	ff4f5936-f847-42ad-aedf-6a6a7fff6002	g.chr2:132021849G>C	ENST00000356920.5	+	15	2915	c.2821G>C	c.(2821-2823)Gag>Cag	p.E941Q	PLEKHB2_ENST00000303908.3_Intron|POTEE_ENST00000358087.5_3'UTR|PLEKHB2_ENST00000404460.1_Intron	NM_001083538.1	NP_001077007.1	Q6S8J3	POTEE_HUMAN	POTE ankyrin domain family, member E	941	Actin-like.				retina homeostasis (GO:0001895)|substantia nigra development (GO:0021762)	blood microparticle (GO:0072562)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)		p.E941Q(1)									GAAGAGCTACGAGCTGCCCGA	0.607																																						uc002tsn.2																			1	Substitution - Missense(1)		lung(1)		0						c.(2821-2823)GAG>CAG		protein expressed in prostate, ovary, testis,							70.0	81.0	77.0					2																	132021849		2201	4294	6495	SO:0001583	missense	445582						ATP binding	g.chr2:132021849G>C	AY462868	CCDS46414.1	2q21.1	2014-04-10	2008-11-26	2008-11-26	ENSG00000188219	ENSG00000188219		"""POTE ankyrin domain containing"", ""Ankyrin repeat domain containing"""	33895	protein-coding gene	gene with protein product	"""cancer/testis antigen family 104, member 2"""	608914	"""ANKRD26-like family C, member 1A"""	A26C1A			Standard	NM_001083538		Approved	POTE2, POTE-2, A26C1, POTE2gamma, CT104.2	uc002tsn.2	Q6S8J3	OTTHUMG00000186974	ENST00000356920.5:c.2821G>C	2.37:g.132021849G>C	ENSP00000439189:p.Glu941Gln					PLEKHB2_uc002tsh.2_Intron|POTEE_uc002tsk.2_Missense_Mutation_p.E541Q|POTEE_uc002tsl.2_Missense_Mutation_p.E523Q|POTEE_uc010fmy.1_Missense_Mutation_p.E405Q	p.E941Q	NM_001083538	NP_001077007	Q6S8J3	POTEE_HUMAN			15	2873	+			941			Actin-like.		Q6S8J4|Q6S8J5|Q6S8J8	Missense_Mutation	SNP	ENST00000356920.5	37	c.2821G>C	CCDS46414.1	.	.	.	.	.	.	.	.	.	.	.	13.87	2.364953	0.41902	.	.	ENSG00000188219	ENST00000356920	D	0.95238	-3.65	.	.	.	.	.	.	.	.	D	0.96318	0.8799	M	0.86420	2.815	0.80722	D	1	D	0.89917	1.0	D	0.66716	0.946	D	0.94064	0.7329	8	0.87932	D	0	.	5.9051	0.18992	8.0E-4:0.0:0.9992:0.0	.	941	Q6S8J3	POTEE_HUMAN	Q	941	ENSP00000439189:E941Q	ENSP00000439189:E941Q	E	+	1	0	AC131180.1	131738319	1.000000	0.71417	0.366000	0.25914	0.371000	0.29859	6.504000	0.73704	0.119000	0.18210	0.121000	0.15741	GAG		PASS	0.607	POTEE-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001083538		7	156	7	156	---	---	---	---
CCDC74A	90557	broad.mit.edu	37	2	132289288	132289288	+	Missense_Mutation	SNP	A	A	T			TCGA-66-2756-01A-01D-1522-08	TCGA-66-2756-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	472c95e6-eccb-4988-be16-fdace73b2ed8	ff4f5936-f847-42ad-aedf-6a6a7fff6002	g.chr2:132289288A>T	ENST00000295171.6	+	4	734	c.596A>T	c.(595-597)gAc>gTc	p.D199V	CCDC74A_ENST00000409856.3_Missense_Mutation_p.D133V|CCDC74A_ENST00000467992.2_Missense_Mutation_p.D301V	NM_001258304.1|NM_001258305.1|NM_138770.2	NP_001245233.1|NP_001245234.1|NP_620125.1	Q96AQ1	CC74A_HUMAN	coiled-coil domain containing 74A	199								p.D199V(1)		endometrium(4)|large_intestine(3)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19						TCAAAAGCTGACGTCTCCCAG	0.587																																						uc002tta.2																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(595-597)GAC>GTC		coiled-coil domain containing 74A							53.0	93.0	81.0					2																	132289288		1854	4192	6046	SO:0001583	missense	90557							g.chr2:132289288A>T		CCDS2167.1, CCDS58732.1, CCDS74578.1	2q21.1	2008-02-05		2006-02-16	ENSG00000163040	ENSG00000163040			25197	protein-coding gene	gene with protein product						12477932	Standard	NM_138770		Approved	FLJ40345	uc002ttb.4	Q96AQ1	OTTHUMG00000131667	ENST00000295171.6:c.596A>T	2.37:g.132289288A>T	ENSP00000295171:p.Asp199Val					CCDC74A_uc002ttb.2_Missense_Mutation_p.D133V	p.D199V	NM_138770	NP_620125	Q96AQ1	CC74A_HUMAN			4	648	+			199					Q6P4I5	Missense_Mutation	SNP	ENST00000295171.6	37	c.596A>T	CCDS2167.1	.	.	.	.	.	.	.	.	.	.	.	8.200	0.797944	0.16327	.	.	ENSG00000163040	ENST00000295171;ENST00000409856;ENST00000434330;ENST00000467992	T;T;T;T	0.60424	1.53;1.56;0.29;0.19	2.13	0.974	0.19715	.	0.874624	0.09377	U	0.810467	T	0.62024	0.2394	L	0.47716	1.5	0.09310	N	1	P;D	0.71674	0.867;0.998	P;D	0.63703	0.544;0.917	T	0.50294	-0.8845	10	0.72032	D	0.01	-6.344	3.3991	0.07316	0.7793:0.0:0.2207:0.0	.	133;199	Q96AQ1-2;Q96AQ1	.;CC74A_HUMAN	V	199;133;128;301	ENSP00000295171:D199V;ENSP00000387009:D133V;ENSP00000406839:D128V;ENSP00000444610:D301V	ENSP00000295171:D199V	D	+	2	0	CCDC74A	132005758	0.017000	0.18338	0.069000	0.20011	0.219000	0.24729	1.536000	0.36072	0.982000	0.38575	0.163000	0.16589	GAC		PASS	0.587	CCDC74A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254570.2	NM_138770		44	77	44	77	---	---	---	---
LRP1B	53353	broad.mit.edu	37	2	141128330	141128330	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2756-01A-01D-1522-08	TCGA-66-2756-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	472c95e6-eccb-4988-be16-fdace73b2ed8	ff4f5936-f847-42ad-aedf-6a6a7fff6002	g.chr2:141128330C>T	ENST00000389484.3	-	71	11928	c.10957G>A	c.(10957-10959)Gat>Aat	p.D3653N		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	3653	LDL-receptor class A 29. {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.D3653N(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)		TGAATTCCATCACACAGCCAT	0.393										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.(10957-10959)GAT>AAT		low density lipoprotein-related protein 1B							250.0	233.0	239.0					2																	141128330		2203	4300	6503	SO:0001583	missense	53353				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	g.chr2:141128330C>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.10957G>A	2.37:g.141128330C>T	ENSP00000374135:p.Asp3653Asn	TSP Lung(27;0.18)					p.D3653N	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)	71	11929	-		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)	3653			Extracellular (Potential).|LDL-receptor class A 29.		Q8WY29|Q8WY30|Q8WY31	Missense_Mutation	SNP	ENST00000389484.3	37	c.10957G>A	CCDS2182.1	.	.	.	.	.	.	.	.	.	.	C	35	5.526650	0.96431	.	.	ENSG00000168702	ENST00000389484;ENST00000544579	D	0.98362	-4.89	5.19	5.19	0.71726	Low-density lipoprotein (LDL) receptor class A, conserved site (1);	0.000000	0.85682	U	0.000000	D	0.98498	0.9499	L	0.49256	1.55	0.58432	D	0.999995	D	0.69078	0.997	D	0.83275	0.996	D	0.99875	1.1102	10	0.59425	D	0.04	.	18.7039	0.91630	0.0:1.0:0.0:0.0	.	3653	Q9NZR2	LRP1B_HUMAN	N	3653;3591	ENSP00000374135:D3653N	ENSP00000374135:D3653N	D	-	1	0	LRP1B	140844800	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.372000	0.79612	2.427000	0.82271	0.491000	0.48974	GAT		PASS	0.393	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254736.2	NM_018557		405	171	405	171	---	---	---	---
LRP1B	53353	broad.mit.edu	37	2	141214043	141214043	+	Missense_Mutation	SNP	G	G	C			TCGA-66-2756-01A-01D-1522-08	TCGA-66-2756-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	472c95e6-eccb-4988-be16-fdace73b2ed8	ff4f5936-f847-42ad-aedf-6a6a7fff6002	g.chr2:141214043G>C	ENST00000389484.3	-	62	10915	c.9944C>G	c.(9943-9945)tCc>tGc	p.S3315C		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	3315					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.S3315C(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)		TGTGCAGTTGGATAAGCAAGT	0.443										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.(9943-9945)TCC>TGC		low density lipoprotein-related protein 1B							102.0	97.0	98.0					2																	141214043		2203	4300	6503	SO:0001583	missense	53353				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	g.chr2:141214043G>C	AF176832	CCDS2182.1	2q21.2	2013-05-29	2010-01-26		ENSG00000168702	ENSG00000168702		"""Low density lipoprotein receptors"""	6693	protein-coding gene	gene with protein product	"""LRP-deleted in tumors"""	608766				10766186	Standard	NM_018557		Approved	LRP-DIT, LRPDIT	uc002tvj.1	Q9NZR2	OTTHUMG00000131799	ENST00000389484.3:c.9944C>G	2.37:g.141214043G>C	ENSP00000374135:p.Ser3315Cys	TSP Lung(27;0.18)					p.S3315C	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)	62	10916	-		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)	3315			Extracellular (Potential).		Q8WY29|Q8WY30|Q8WY31	Missense_Mutation	SNP	ENST00000389484.3	37	c.9944C>G	CCDS2182.1	.	.	.	.	.	.	.	.	.	.	G	24.4	4.532900	0.85812	.	.	ENSG00000168702	ENST00000389484;ENST00000544579	D	0.96011	-3.88	5.21	5.21	0.72293	Growth factor, receptor (1);	0.000000	0.64402	U	0.000001	D	0.97648	0.9229	M	0.77406	2.37	0.58432	D	0.999999	D	0.89917	1.0	D	0.91635	0.999	D	0.97940	1.0325	10	0.54805	T	0.06	.	18.7594	0.91845	0.0:0.0:1.0:0.0	.	3315	Q9NZR2	LRP1B_HUMAN	C	3315;3253	ENSP00000374135:S3315C	ENSP00000374135:S3315C	S	-	2	0	LRP1B	140930513	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.835000	0.99442	2.414000	0.81942	0.585000	0.79938	TCC		PASS	0.443	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254736.2	NM_018557		219	66	219	66	---	---	---	---
KIF5C	3800	broad.mit.edu	37	2	149840148	149840148	+	Silent	SNP	C	C	A			TCGA-66-2756-01A-01D-1522-08	TCGA-66-2756-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	472c95e6-eccb-4988-be16-fdace73b2ed8	ff4f5936-f847-42ad-aedf-6a6a7fff6002	g.chr2:149840148C>A	ENST00000435030.1	+	15	1952	c.1584C>A	c.(1582-1584)acC>acA	p.T528T	KIF5C_ENST00000414838.2_Silent_p.T433T|KIF5C_ENST00000397413.1_Silent_p.T296T|KIF5C_ENST00000464066.1_3'UTR			O60282	KIF5C_HUMAN	kinesin family member 5C	528					ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|cytoskeleton-dependent intracellular transport (GO:0030705)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|mRNA transport (GO:0051028)|organelle organization (GO:0006996)|protein localization (GO:0008104)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|plus-end-directed microtubule motor activity (GO:0008574)	p.T528T(1)|p.T431T(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(12)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36				BRCA - Breast invasive adenocarcinoma(221;0.108)		CATTGACAACCACACAGAGAG	0.408																																						uc010zbu.1																			2	Substitution - coding silent(2)		lung(2)	skin(1)	1						c.(1582-1584)ACC>ACA		kinesin family member 5C							88.0	86.0	86.0					2																	149840148		1904	4131	6035	SO:0001819	synonymous_variant	3800				microtubule-based movement|organelle organization	cytoplasm|kinesin complex|microtubule	ATP binding|microtubule motor activity	g.chr2:149840148C>A	AB011103	CCDS74586.1	2q23	2008-02-05			ENSG00000168280	ENSG00000168280		"""Kinesins"""	6325	protein-coding gene	gene with protein product		604593				7514426	Standard	NM_004522		Approved		uc010zbu.2	O60282	OTTHUMG00000153779	ENST00000435030.1:c.1584C>A	2.37:g.149840148C>A						KIF5C_uc002tws.1_RNA|KIF5C_uc002twt.2_Silent_p.T80T	p.T528T	NM_004522	NP_004513	O60282	KIF5C_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.108)	15	1952	+			528					O95079|Q2YDC5	Silent	SNP	ENST00000435030.1	37	c.1584C>A																																																																																					PASS	0.408	KIF5C-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000332562.3	NM_004522		10	55	10	55	---	---	---	---
RPRM	56475	broad.mit.edu	37	2	154334943	154334943	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2756-01A-01D-1522-08	TCGA-66-2756-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	472c95e6-eccb-4988-be16-fdace73b2ed8	ff4f5936-f847-42ad-aedf-6a6a7fff6002	g.chr2:154334943G>T	ENST00000325926.3	-	1	379	c.137C>A	c.(136-138)cCg>cAg	p.P46Q	AC012501.2_ENST00000424322.1_RNA	NM_019845.2	NP_062819.1	Q9NS64	RPRM_HUMAN	reprimo, TP53 dependent G2 arrest mediator candidate	46					cell cycle arrest (GO:0007050)|regulation of mitotic cell cycle (GO:0007346)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)		p.P46Q(1)		large_intestine(2)|lung(1)|prostate(1)	4						ACGCTCGTCCGGGCCTCCCTC	0.657																																						uc002tyq.1																			1	Substitution - Missense(1)		lung(1)		0						c.(136-138)CCG>CAG		reprimo, TP53 dependant G2 arrest mediator							92.0	64.0	73.0					2																	154334943		2203	4300	6503	SO:0001583	missense	56475				cell cycle arrest	cytoplasm|integral to membrane	protein binding	g.chr2:154334943G>T	AK074808	CCDS2198.1	2q24.1	2011-01-26	2005-12-01		ENSG00000177519	ENSG00000177519			24201	protein-coding gene	gene with protein product	"""candidate mediator of the p53 dependent G2 arrest"", ""REPRIMO"""	612171	"""reprimo, TP53 dependant G2 arrest mediator candidate"""			10930422	Standard	NM_019845		Approved	FLJ90327, REPRIMO	uc002tyq.1	Q9NS64	OTTHUMG00000131905	ENST00000325926.3:c.137C>A	2.37:g.154334943G>T	ENSP00000314946:p.Pro46Gln						p.P46Q	NM_019845	NP_062819	Q9NS64	RPRM_HUMAN			1	380	-			46					B2R4V1	Missense_Mutation	SNP	ENST00000325926.3	37	c.137C>A	CCDS2198.1	.	.	.	.	.	.	.	.	.	.	G	12.97	2.097139	0.37048	.	.	ENSG00000177519	ENST00000325926	.	.	.	5.02	4.05	0.47172	.	0.125962	0.53938	D	0.000045	T	0.39172	0.1068	N	0.26130	0.795	0.43919	D	0.996561	B	0.02656	0.0	B	0.06405	0.002	T	0.24621	-1.0155	9	0.29301	T	0.29	-12.53	7.1202	0.25440	0.0984:0.0:0.7184:0.1832	.	46	Q9NS64	RPRM_HUMAN	Q	46	.	ENSP00000314946:P46Q	P	-	2	0	RPRM	154043189	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.235000	0.65348	2.317000	0.78254	0.591000	0.81541	CCG		PASS	0.657	RPRM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254856.1	NM_019845		19	20	19	20	---	---	---	---
BAZ2B	29994	broad.mit.edu	37	2	160242947	160242947	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2756-01A-01D-1522-08	TCGA-66-2756-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	472c95e6-eccb-4988-be16-fdace73b2ed8	ff4f5936-f847-42ad-aedf-6a6a7fff6002	g.chr2:160242947C>A	ENST00000392783.2	-	22	3883	c.3388G>T	c.(3388-3390)Gac>Tac	p.D1130Y	BAZ2B_ENST00000392782.1_Missense_Mutation_p.D1094Y|AC008277.1_ENST00000420020.1_RNA|BAZ2B_ENST00000355831.2_Missense_Mutation_p.D1096Y|BAZ2B_ENST00000343439.5_Missense_Mutation_p.D1030Y	NM_013450.2	NP_038478.2	Q9UIF8	BAZ2B_HUMAN	bromodomain adjacent to zinc finger domain, 2B	1130	DDT. {ECO:0000255|PROSITE- ProRule:PRU00063}.				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.D1130Y(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						CCCATGCTGTCCCCTATATTT	0.403																																						uc002uao.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|skin(1)	4						c.(3388-3390)GAC>TAC		bromodomain adjacent to zinc finger domain, 2B							100.0	91.0	94.0					2																	160242947		1888	4128	6016	SO:0001583	missense	29994				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding	g.chr2:160242947C>A	AB032255	CCDS2209.2, CCDS74594.1	2q24.2	2013-01-28			ENSG00000123636	ENSG00000123636		"""Zinc fingers, PHD-type"""	963	protein-coding gene	gene with protein product		605683				10662543	Standard	XM_005246488		Approved	WALp4	uc002uao.3	Q9UIF8	OTTHUMG00000132027	ENST00000392783.2:c.3388G>T	2.37:g.160242947C>A	ENSP00000376534:p.Asp1130Tyr					BAZ2B_uc002uap.2_Missense_Mutation_p.D1094Y	p.D1130Y	NM_013450	NP_038478	Q9UIF8	BAZ2B_HUMAN			22	3740	-			1130			DDT.		D3DPA8|Q96EA1|Q96SQ8|Q9P252|Q9Y4N8	Missense_Mutation	SNP	ENST00000392783.2	37	c.3388G>T	CCDS2209.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	22.7|22.7	4.328077|4.328077	0.81690|0.81690	.|.	.|.	ENSG00000123636|ENSG00000123636	ENST00000392782;ENST00000392783;ENST00000355831;ENST00000343439|ENST00000294905	T;T;T;T|T	0.64260|0.47177	-0.09;-0.04;-0.09;-0.09|0.85	5.97|5.97	5.97|5.97	0.96955|0.96955	DDT domain superfamily (1);DDT domain, subgroup (1);DDT domain (1);|.	0.000000|.	0.39020|.	U|.	0.001491|.	T|T	0.64549|0.64549	0.2608|0.2608	M|M	0.62723|0.62723	1.935|1.935	0.58432|0.58432	D|D	0.999999|0.999999	D;D|.	0.89917|.	1.0;1.0|.	D;D|.	0.85130|.	0.988;0.997|.	T|T	0.58907|0.58907	-0.7553|-0.7553	10|7	0.87932|0.41790	D|T	0|0.15	-13.1243|-13.1243	20.4135|20.4135	0.99023|0.99023	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	1094;1130|.	Q9UIF8-5;Q9UIF8|.	.;BAZ2B_HUMAN|.	Y|V	1094;1130;1096;1030|190	ENSP00000376533:D1094Y;ENSP00000376534:D1130Y;ENSP00000348087:D1096Y;ENSP00000339670:D1030Y|ENSP00000294905:G190V	ENSP00000339670:D1030Y|ENSP00000294905:G190V	D|G	-|-	1|2	0|0	BAZ2B|BAZ2B	159951193|159951193	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	4.496000|4.496000	0.60360|0.60360	2.835000|2.835000	0.97688|0.97688	0.591000|0.591000	0.81541|0.81541	GAC|GGA		PASS	0.403	BAZ2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255037.2			40	275	40	275	---	---	---	---
RBMS1	5937	broad.mit.edu	37	2	161133862	161133862	+	Silent	SNP	G	G	A			TCGA-66-2756-01A-01D-1522-08	TCGA-66-2756-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	472c95e6-eccb-4988-be16-fdace73b2ed8	ff4f5936-f847-42ad-aedf-6a6a7fff6002	g.chr2:161133862G>A	ENST00000348849.3	-	12	1525	c.1095C>T	c.(1093-1095)gcC>gcT	p.A365A	RBMS1_ENST00000409972.1_Silent_p.A329A|RBMS1_ENST00000392753.3_Silent_p.A378A|RBMS1_ENST00000409075.1_Silent_p.A329A|RBMS1_ENST00000409289.2_Silent_p.A329A|RBMS1_ENST00000474820.1_5'UTR	NM_002897.4|NM_016836.3	NP_002888.1|NP_058520.1	P29558	RBMS1_HUMAN	RNA binding motif, single stranded interacting protein 1	365					DNA replication (GO:0006260)|RNA processing (GO:0006396)	nucleus (GO:0005634)	double-stranded DNA binding (GO:0003690)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|single-stranded DNA binding (GO:0003697)	p.A365A(1)	PLA2R1/RBMS1(2)								GTGGCAAGTAGGCTCCTTGCA	0.468																																						uc002ubo.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(1093-1095)GCC>GCT		RNA binding motif, single stranded interacting							141.0	106.0	118.0					2																	161133862		2203	4300	6503	SO:0001819	synonymous_variant	5937				DNA replication|RNA processing	nucleus	double-stranded DNA binding|nucleotide binding|protein binding|RNA binding|single-stranded DNA binding	g.chr2:161133862G>A	D28482	CCDS2213.1	2q24.2	2013-02-12			ENSG00000153250	ENSG00000153250		"""RNA binding motif (RRM) containing"""	9907	protein-coding gene	gene with protein product	"""suppressor of cdc 2 (cdc13) with RNA binding motif 2"", ""c-myc gene single strand binding protein 2"""	602310	"""chromosome 2 open reading frame 12"""	C2orf12		8041632, 8134115, 7838710	Standard	NM_016836		Approved	SCR2, MSSP-1, MSSP-2, MSSP-3, YC1, HCC-4, DKFZp564H0764	uc002ubo.3	P29558	OTTHUMG00000132031	ENST00000348849.3:c.1095C>T	2.37:g.161133862G>A						RBMS1_uc002ubj.2_Silent_p.A345A|RBMS1_uc002ubk.2_Silent_p.A329A|RBMS1_uc002ubl.2_Silent_p.A360A|RBMS1_uc002ubn.2_Silent_p.A362A|RBMS1_uc002ubi.3_Silent_p.A378A|RBMS1_uc002ubm.2_Silent_p.A348A|RBMS1_uc002ubp.2_Silent_p.A381A	p.A365A	NM_016836	NP_058520	P29558	RBMS1_HUMAN			12	1539	-			365					Q14869|Q15433|Q53P46|Q53QX8|Q53RG6|Q8WV20	Silent	SNP	ENST00000348849.3	37	c.1095C>T	CCDS2213.1																																																																																				PASS	0.468	RBMS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255043.4	NM_016836		163	120	163	120	---	---	---	---
TBR1	10716	broad.mit.edu	37	2	162274732	162274732	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2756-01A-01D-1522-08	TCGA-66-2756-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	472c95e6-eccb-4988-be16-fdace73b2ed8	ff4f5936-f847-42ad-aedf-6a6a7fff6002	g.chr2:162274732C>T	ENST00000389554.3	+	3	1185	c.868C>T	c.(868-870)Ccg>Tcg	p.P290S	TBR1_ENST00000410035.1_Missense_Mutation_p.P3S	NM_006593.2	NP_006584.1	Q16650	TBR1_HUMAN	T-box, brain, 1	290					axon guidance (GO:0007411)|brain development (GO:0007420)|hindbrain development (GO:0030902)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of neuron projection development (GO:0010975)|specification of organ identity (GO:0010092)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.P290S(1)|p.P290T(1)		central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|prostate(1)|skin(3)	30						CTATATGCATCCGGATTCCCC	0.463																																						uc002ubw.1																			2	Substitution - Missense(2)		lung(2)	ovary(1)|central_nervous_system(1)	2						c.(868-870)CCG>TCG		T-box, brain, 1							59.0	63.0	62.0					2																	162274732		2203	4300	6503	SO:0001583	missense	10716					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr2:162274732C>T	U49250	CCDS33310.1	2q24.2	2011-06-13			ENSG00000136535	ENSG00000136535		"""T-boxes"""	11590	protein-coding gene	gene with protein product		604616				7619531	Standard	NM_006593		Approved		uc002ubw.1	Q16650	OTTHUMG00000153888	ENST00000389554.3:c.868C>T	2.37:g.162274732C>T	ENSP00000374205:p.Pro290Ser					TBR1_uc010foy.2_Missense_Mutation_p.P3S	p.P290S	NM_006593	NP_006584	Q16650	TBR1_HUMAN			3	1170	+			290			T-box.		B0AZS4|B2R6G5|Q14DC5|Q53TH0|Q56A81	Missense_Mutation	SNP	ENST00000389554.3	37	c.868C>T	CCDS33310.1	.	.	.	.	.	.	.	.	.	.	C	18.74	3.687589	0.68157	.	.	ENSG00000136535	ENST00000389554;ENST00000539334;ENST00000411412;ENST00000410035	D;D;D	0.81908	-1.55;-1.55;-1.55	5.07	5.07	0.68467	Transcription factor, T-box, conserved site (1);p53-like transcription factor, DNA-binding (1);	0.110414	0.64402	D	0.000007	D	0.93585	0.7952	M	0.93594	3.435	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.94783	0.7955	10	0.87932	D	0	.	18.6122	0.91290	0.0:1.0:0.0:0.0	.	290	Q16650	TBR1_HUMAN	S	290;3;25;3	ENSP00000374205:P290S;ENSP00000393934:P25S;ENSP00000387023:P3S	ENSP00000374205:P290S	P	+	1	0	TBR1	161982978	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.564000	0.82326	2.790000	0.95986	0.650000	0.86243	CCG		PASS	0.463	TBR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000332845.1	NM_006593		26	134	26	134	---	---	---	---
SLC4A10	57282	broad.mit.edu	37	2	162804144	162804144	+	Silent	SNP	T	T	C			TCGA-66-2756-01A-01D-1522-08	TCGA-66-2756-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	472c95e6-eccb-4988-be16-fdace73b2ed8	ff4f5936-f847-42ad-aedf-6a6a7fff6002	g.chr2:162804144T>C	ENST00000446997.1	+	17	2265	c.2172T>C	c.(2170-2172)gaT>gaC	p.D724D	SLC4A10_ENST00000375514.5_Silent_p.D705D|SLC4A10_ENST00000421911.1_Silent_p.D724D|SLC4A10_ENST00000272716.5_Silent_p.D694D|SLC4A10_ENST00000415876.2_Silent_p.D694D	NM_001178015.1	NP_001171486.1	Q6U841	S4A10_HUMAN	solute carrier family 4, sodium bicarbonate transporter, member 10	724					bicarbonate transport (GO:0015701)|chloride transport (GO:0006821)|ion transport (GO:0006811)|regulation of pH (GO:0006885)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	inorganic anion exchanger activity (GO:0005452)|symporter activity (GO:0015293)	p.D694D(1)|p.D724D(1)		endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(35)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	60					Sodium bicarbonate(DB01390)	ATGTTCCAGATGTTCTATTTT	0.443																																						uc002ubx.3																			2	Substitution - coding silent(2)		lung(2)	ovary(2)|lung(2)|pancreas(1)	5						c.(2170-2172)GAT>GAC		solute carrier family 4, sodium bicarbonate							184.0	179.0	180.0					2																	162804144		1943	4130	6073	SO:0001819	synonymous_variant	57282				bicarbonate transport|chloride transport|sodium ion transport	integral to membrane|plasma membrane	inorganic anion exchanger activity|symporter activity	g.chr2:162804144T>C		CCDS46438.1, CCDS54411.1, CCDS54412.1	2q24.2	2013-05-22	2008-09-15		ENSG00000144290	ENSG00000144290		"""Solute carriers"""	13811	protein-coding gene	gene with protein product		605556	"""solute carrier family 4, sodium bicarbonate transporter-like, member 10"""			10964153, 18319254	Standard	NM_022058		Approved	NBCn2, NCBE	uc002ubx.4	Q6U841	OTTHUMG00000153938	ENST00000446997.1:c.2172T>C	2.37:g.162804144T>C						SLC4A10_uc002uby.3_Silent_p.D694D|SLC4A10_uc010zcs.1_Silent_p.D705D	p.D724D	NM_022058	NP_071341	Q6U841	S4A10_HUMAN			17	2356	+			724			Helical; (Potential).		B7Z1R0|B7Z2J0|B7ZLC5|B9EG69|F8W675|Q4ZFX6|Q8TCP2|Q9HCQ6	Silent	SNP	ENST00000446997.1	37	c.2172T>C	CCDS54411.1																																																																																				PASS	0.443	SLC4A10-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000333090.1	NM_022058		12	331	12	331	---	---	---	---
KCNH7	90134	broad.mit.edu	37	2	163291984	163291984	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2756-01A-01D-1522-08	TCGA-66-2756-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	472c95e6-eccb-4988-be16-fdace73b2ed8	ff4f5936-f847-42ad-aedf-6a6a7fff6002	g.chr2:163291984C>A	ENST00000332142.5	-	8	1777	c.1678G>T	c.(1678-1680)Gcc>Tcc	p.A560S	KCNH7_ENST00000328032.4_Missense_Mutation_p.A553S	NM_033272.3	NP_150375.2	Q9NS40	KCNH7_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 7	560					circadian rhythm (GO:0007623)|potassium ion transmembrane transport (GO:0071805)|protein heterooligomerization (GO:0051291)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	inward rectifier potassium channel activity (GO:0005242)|signal transducer activity (GO:0004871)|voltage-gated potassium channel activity (GO:0005249)	p.A553S(1)|p.A560S(1)		NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(22)|lung(53)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	108					Doxazosin(DB00590)|Ibutilide(DB00308)|Miconazole(DB01110)|Prazosin(DB00457)|Terazosin(DB01162)	GCAATCAGGGCAAAGATGCAC	0.493																																					GBM(196;1492 2208 17507 24132 45496)	uc002uch.1																			2	Substitution - Missense(2)		lung(2)	ovary(3)|skin(2)	5						c.(1678-1680)GCC>TCC		potassium voltage-gated channel, subfamily H,	Ibutilide(DB00308)						88.0	84.0	86.0					2																	163291984		2203	4300	6503	SO:0001583	missense	90134				regulation of transcription, DNA-dependent	integral to membrane	protein binding|signal transducer activity	g.chr2:163291984C>A	AF032897	CCDS2219.1, CCDS2220.1	2q24.3	2012-07-05			ENSG00000184611	ENSG00000184611		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	18863	protein-coding gene	gene with protein product		608169				16382104	Standard	NM_173162		Approved	Kv11.3, HERG3, erg3	uc002uch.2	Q9NS40	OTTHUMG00000132069	ENST00000332142.5:c.1678G>T	2.37:g.163291984C>A	ENSP00000331727:p.Ala560Ser					KCNH7_uc002uci.2_Missense_Mutation_p.A553S	p.A560S	NM_033272	NP_150375	Q9NS40	KCNH7_HUMAN			8	1890	-			560			Helical; Name=Segment S5; (Potential).		Q53QU4|Q53TB7|Q53TP9|Q8IV15	Missense_Mutation	SNP	ENST00000332142.5	37	c.1678G>T	CCDS2219.1	.	.	.	.	.	.	.	.	.	.	C	33	5.244881	0.95272	.	.	ENSG00000184611	ENST00000332142;ENST00000328032	D;D	0.97529	-4.42;-4.42	5.9	5.9	0.94986	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.98143	0.9387	M	0.62723	1.935	0.80722	D	1	D;D	0.71674	0.998;0.987	D;D	0.72982	0.979;0.966	D	0.98494	1.0611	10	0.62326	D	0.03	.	20.2789	0.98501	0.0:1.0:0.0:0.0	.	553;560	Q9NS40-2;Q9NS40	.;KCNH7_HUMAN	S	560;553	ENSP00000331727:A560S;ENSP00000333781:A553S	ENSP00000333781:A553S	A	-	1	0	KCNH7	163000230	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.818000	0.86416	2.788000	0.95919	0.650000	0.86243	GCC		PASS	0.493	KCNH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255093.1	NM_033272		104	46	104	46	---	---	---	---
FASTKD1	79675	broad.mit.edu	37	2	170417051	170417051	+	Missense_Mutation	SNP	T	T	A			TCGA-66-2756-01A-01D-1522-08	TCGA-66-2756-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	472c95e6-eccb-4988-be16-fdace73b2ed8	ff4f5936-f847-42ad-aedf-6a6a7fff6002	g.chr2:170417051T>A	ENST00000453153.2	-	5	1163	c.817A>T	c.(817-819)Agt>Tgt	p.S273C	FASTKD1_ENST00000453929.2_Missense_Mutation_p.S273C	NM_024622.3	NP_078898.3	Q53R41	FAKD1_HUMAN	FAST kinase domains 1	273					cellular respiration (GO:0045333)	mitochondrion (GO:0005739)	poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)	p.S273C(1)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(5)|large_intestine(10)|lung(9)|ovary(4)|prostate(3)	37						TTGTATACACTAAGTATTTTA	0.284																																						uc002uev.3																			1	Substitution - Missense(1)		lung(1)	ovary(4)	4						c.(817-819)AGT>TGT		FAST kinase domains 1							52.0	57.0	55.0					2																	170417051		2198	4295	6493	SO:0001583	missense	79675				apoptosis|cellular respiration	mitochondrion	ATP binding|protein kinase activity	g.chr2:170417051T>A	AL832058	CCDS33318.1, CCDS63051.1	2q31.1	2008-02-05			ENSG00000138399	ENSG00000138399			26150	protein-coding gene	gene with protein product						11347906	Standard	NM_024622		Approved	FLJ21901	uc002uev.4	Q53R41	OTTHUMG00000154953	ENST00000453153.2:c.817A>T	2.37:g.170417051T>A	ENSP00000400513:p.Ser273Cys					FASTKD1_uc002uew.3_RNA|FASTKD1_uc002uex.3_Missense_Mutation_p.S259C|FASTKD1_uc002uey.2_Missense_Mutation_p.S236C	p.S273C	NM_024622	NP_078898	Q53R41	FAKD1_HUMAN			5	1205	-			273					Q8N583|Q8TEA9|Q96JM5|Q96N71|Q9H6T4	Missense_Mutation	SNP	ENST00000453153.2	37	c.817A>T	CCDS33318.1	.	.	.	.	.	.	.	.	.	.	T	13.64	2.296787	0.40594	.	.	ENSG00000138399	ENST00000453153;ENST00000453929;ENST00000417376;ENST00000438035;ENST00000445210	T;T	0.18810	2.2;2.19	5.61	2.42	0.29668	.	1.247540	0.05857	N	0.622243	T	0.29945	0.0749	L	0.54323	1.7	0.20074	N	0.999939	P;P;P	0.48503	0.856;0.911;0.856	P;P;P	0.48627	0.497;0.584;0.497	T	0.19192	-1.0313	10	0.66056	D	0.02	-0.172	7.8338	0.29358	0.0:0.7749:0.0:0.2251	.	250;273;273	D3DPC4;Q53R41-2;Q53R41	.;.;FAKD1_HUMAN	C	273;273;101;250;273	ENSP00000400513:S273C;ENSP00000403229:S273C	ENSP00000408667:S101C	S	-	1	0	FASTKD1	170125297	0.106000	0.21978	0.194000	0.23346	0.437000	0.31866	0.470000	0.22084	0.132000	0.18615	0.528000	0.53228	AGT		PASS	0.284	FASTKD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000337788.2	NM_024622		49	57	49	57	---	---	---	---
MYO3B	140469	broad.mit.edu	37	2	171225765	171225765	+	Silent	SNP	C	C	G	rs367830596		TCGA-66-2756-01A-01D-1522-08	TCGA-66-2756-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	472c95e6-eccb-4988-be16-fdace73b2ed8	ff4f5936-f847-42ad-aedf-6a6a7fff6002	g.chr2:171225765C>G	ENST00000408978.4	+	9	992	c.849C>G	c.(847-849)tcC>tcG	p.S283S	MYO3B_ENST00000409044.3_Silent_p.S283S|MYO3B_ENST00000334231.6_Silent_p.S292S|MYO3B_ENST00000602629.1_3'UTR	NM_138995.4	NP_620482.3	Q8WXR4	MYO3B_HUMAN	myosin IIIB	283	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of filopodium assembly (GO:0051491)|protein autophosphorylation (GO:0046777)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|filopodium tip (GO:0032433)|myosin complex (GO:0016459)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)|stereocilium bundle tip (GO:0032426)	ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)|protein serine/threonine kinase activity (GO:0004674)	p.S283S(2)		breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(25)|ovary(6)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	59						GGCGACCTTCCGTCACACATC	0.418																																						uc002ufy.2																			2	Substitution - coding silent(2)		lung(2)	lung(8)|ovary(6)|skin(4)|central_nervous_system(1)	19						c.(847-849)TCC>TCG		myosin IIIB isoform 2							154.0	136.0	141.0					2																	171225765		1851	4106	5957	SO:0001819	synonymous_variant	140469				response to stimulus|visual perception	cytoplasm|myosin complex	actin binding|ATP binding|motor activity|protein serine/threonine kinase activity	g.chr2:171225765C>G		CCDS42773.1, CCDS46446.1	2q31.1-q31.2	2011-09-27			ENSG00000071909	ENSG00000071909		"""Myosins / Myosin superfamily : Class III"""	15576	protein-coding gene	gene with protein product		610040					Standard	NM_001083615		Approved		uc002ufy.3	Q8WXR4	OTTHUMG00000154002	ENST00000408978.4:c.849C>G	2.37:g.171225765C>G						MYO3B_uc002ufv.2_Silent_p.S270S|MYO3B_uc010fqb.1_Silent_p.S270S|MYO3B_uc002ufz.2_Silent_p.S283S|MYO3B_uc002ufw.2_RNA|MYO3B_uc002ufx.2_RNA|MYO3B_uc002uga.2_Silent_p.S270S|MYO3B_uc002ugb.2_RNA	p.S283S	NM_138995	NP_620482	Q8WXR4	MYO3B_HUMAN			9	992	+			283			Protein kinase.		B8ZZR2|Q53QE1|Q53T08|Q8IX64|Q8IX65|Q8IX66|Q8IX67|Q8IX68|Q96N94	Silent	SNP	ENST00000408978.4	37	c.849C>G	CCDS42773.1	.	.	.	.	.	.	.	.	.	.	C	7.519	0.656266	0.14580	.	.	ENSG00000071909	ENST00000442690	.	.	.	6.06	-11.2	0.00127	.	.	.	.	.	T	0.30198	0.0757	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.39921	-0.9590	4	.	.	.	.	0.4686	0.00528	0.3192:0.1285:0.2004:0.3519	.	.	.	.	G	283	.	.	R	+	1	0	MYO3B	170934011	0.000000	0.05858	0.288000	0.24862	0.877000	0.50540	-3.012000	0.00647	-2.046000	0.00909	-1.340000	0.01251	CGT		PASS	0.418	MYO3B-004	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000333410.1			53	82	53	82	---	---	---	---
GAD1	2571	broad.mit.edu	37	2	171686061	171686061	+	Missense_Mutation	SNP	G	G	C			TCGA-66-2756-01A-01D-1522-08	TCGA-66-2756-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	472c95e6-eccb-4988-be16-fdace73b2ed8	ff4f5936-f847-42ad-aedf-6a6a7fff6002	g.chr2:171686061G>C	ENST00000358196.3	+	4	772	c.222G>C	c.(220-222)aaG>aaC	p.K74N	GAD1_ENST00000375272.1_Missense_Mutation_p.K74N|GAD1_ENST00000344257.5_Missense_Mutation_p.K74N|GAD1_ENST00000429023.1_3'UTR	NM_000817.2	NP_000808.2	Q99259	DCE1_HUMAN	glutamate decarboxylase 1 (brain, 67kDa)	74					gamma-aminobutyric acid biosynthetic process (GO:0009449)|glutamate catabolic process (GO:0006538)|glutamate decarboxylation to succinate (GO:0006540)|neurotransmitter biosynthetic process (GO:0042136)|neurotransmitter secretion (GO:0007269)|protein-pyridoxal-5-phosphate linkage (GO:0018352)|response to drug (GO:0042493)|synaptic transmission (GO:0007268)	clathrin-sculpted gamma-aminobutyric acid transport vesicle membrane (GO:0061202)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|vesicle membrane (GO:0012506)	glutamate binding (GO:0016595)|glutamate decarboxylase activity (GO:0004351)|pyridoxal phosphate binding (GO:0030170)	p.K74N(2)		endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(15)|ovary(1)|urinary_tract(2)	35						AATCCTCCAAGAACCTGCTTT	0.547																																						uc002ugi.2																			2	Substitution - Missense(2)		large_intestine(1)|lung(1)	ovary(1)	1						c.(220-222)AAG>AAC		glutamate decarboxylase 1 isoform GAD67	L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)						79.0	86.0	84.0					2																	171686061		2203	4300	6503	SO:0001583	missense	2571				glutamate decarboxylation to succinate|neurotransmitter biosynthetic process|neurotransmitter secretion|protein-pyridoxal-5-phosphate linkage	clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|plasma membrane	glutamate decarboxylase activity|protein binding|pyridoxal phosphate binding	g.chr2:171686061G>C		CCDS2239.1, CCDS2240.1	2q31	2008-02-05	2002-08-29		ENSG00000128683	ENSG00000128683	4.1.1.15		4092	protein-coding gene	gene with protein product		605363	"""glutamate decarboxylase 1 (brain, 67kD)"""	GAD		1549570	Standard	XM_005246443		Approved		uc002ugi.3	Q99259	OTTHUMG00000044175	ENST00000358196.3:c.222G>C	2.37:g.171686061G>C	ENSP00000350928:p.Lys74Asn					GAD1_uc002ugh.2_Missense_Mutation_p.K74N	p.K74N	NM_000817	NP_000808	Q99259	DCE1_HUMAN			4	644	+			74					Q49AK1|Q53TQ7|Q9BU91|Q9UHH4	Missense_Mutation	SNP	ENST00000358196.3	37	c.222G>C	CCDS2239.1	.	.	.	.	.	.	.	.	.	.	G	16.14	3.039254	0.55003	.	.	ENSG00000128683	ENST00000454603;ENST00000358196;ENST00000375272;ENST00000344257;ENST00000455008;ENST00000456864	T;T;T;T;T;T	0.80994	-1.44;2.23;0.37;0.37;-1.25;-1.25	5.37	4.49	0.54785	.	0.147219	0.46758	D	0.000279	T	0.73110	0.3545	L	0.50333	1.59	0.54753	D	0.999982	B;B	0.32467	0.078;0.372	B;B	0.29077	0.091;0.098	T	0.70963	-0.4729	10	0.42905	T	0.14	-7.0344	10.238	0.43294	0.1516:0.0:0.8484:0.0	.	74;74	Q99259;Q99259-3	DCE1_HUMAN;.	N	74	ENSP00000402366:K74N;ENSP00000350928:K74N;ENSP00000364421:K74N;ENSP00000341167:K74N;ENSP00000405917:K74N;ENSP00000394255:K74N	ENSP00000341167:K74N	K	+	3	2	GAD1	171394307	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.592000	0.53993	1.244000	0.43870	0.542000	0.68232	AAG		PASS	0.547	GAD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000102664.2			54	100	54	100	---	---	---	---
PDE11A	50940	broad.mit.edu	37	2	178592440	178592440	+	Nonsense_Mutation	SNP	G	G	T			TCGA-66-2756-01A-01D-1522-08	TCGA-66-2756-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	472c95e6-eccb-4988-be16-fdace73b2ed8	ff4f5936-f847-42ad-aedf-6a6a7fff6002	g.chr2:178592440G>T	ENST00000286063.6	-	12	2306	c.1989C>A	c.(1987-1989)taC>taA	p.Y663*	PDE11A_ENST00000358450.4_Nonsense_Mutation_p.Y413*|PDE11A_ENST00000497003.1_5'UTR|PDE11A_ENST00000389683.3_Nonsense_Mutation_p.Y219*|PDE11A_ENST00000449286.2_Nonsense_Mutation_p.Y305*|PDE11A_ENST00000409504.1_Nonsense_Mutation_p.Y305*	NM_016953.3	NP_058649.3	Q9HCR9	PDE11_HUMAN	phosphodiesterase 11A	663	Catalytic. {ECO:0000250}.				blood coagulation (GO:0007596)|cAMP catabolic process (GO:0006198)|cGMP catabolic process (GO:0046069)|signal transduction (GO:0007165)	cytosol (GO:0005829)|perikaryon (GO:0043204)	3',5'-cyclic-GMP phosphodiesterase activity (GO:0047555)|3',5'-cyclic-nucleotide phosphodiesterase activity (GO:0004114)|cAMP binding (GO:0030552)|cGMP binding (GO:0030553)|cGMP-stimulated cyclic-nucleotide phosphodiesterase activity (GO:0004118)|cyclic-nucleotide phosphodiesterase activity (GO:0004112)|metal ion binding (GO:0046872)	p.Y663*(1)|p.Y413*(1)		breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(3)	58			OV - Ovarian serous cystadenocarcinoma(117;0.00121)|Epithelial(96;0.00455)|all cancers(119;0.02)		Caffeine(DB00201)|Tadalafil(DB00820)	TCCAGTTGTGGTATAGAACCA	0.463									Primary Pigmented Nodular Adrenocortical Disease, Familial																													uc002ulq.2																			2	Substitution - Nonsense(2)		lung(2)	ovary(3)|large_intestine(1)	4						c.(1987-1989)TAC>TAA		phosphodiesterase 11A isoform 4							200.0	160.0	174.0					2																	178592440		2203	4300	6503	SO:0001587	stop_gained	50940	Primary_Pigmented_Nodular_Adrenocortical_Disease_Familial	Familial Cancer Database	iPPNAD, PPNAD1, incl. familial micronodular adrenocortical hyperplasia, PPNAD2	platelet activation|signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding	g.chr2:178592440G>T	AJ251509	CCDS33334.1, CCDS42785.1, CCDS42786.1, CCDS46459.1	2q31.3	2010-06-22			ENSG00000128655	ENSG00000128655	3.1.4.17	"""Phosphodiesterases"""	8773	protein-coding gene	gene with protein product		604961				10725373	Standard	NM_001077196		Approved		uc002ulq.3	Q9HCR9	OTTHUMG00000154188	ENST00000286063.6:c.1989C>A	2.37:g.178592440G>T	ENSP00000286063:p.Tyr663*					PDE11A_uc002ulp.2_Nonsense_Mutation_p.Y219*|PDE11A_uc002ulr.2_Nonsense_Mutation_p.Y413*|PDE11A_uc002uls.1_Nonsense_Mutation_p.Y305*|PDE11A_uc002ult.1_Nonsense_Mutation_p.Y413*|PDE11A_uc002ulu.1_Nonsense_Mutation_p.Y305*	p.Y663*	NM_016953	NP_058649	Q9HCR9	PDE11_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.00121)|Epithelial(96;0.00455)|all cancers(119;0.02)		12	2307	-			663			Catalytic (By similarity).		Q14CD1|Q53T16|Q96S76|Q9GZY7|Q9HB46|Q9NY45	Nonsense_Mutation	SNP	ENST00000286063.6	37	c.1989C>A	CCDS33334.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	28.1|28.1	4.893450|4.893450	0.91889|0.91889	.|.	.|.	ENSG00000128655|ENSG00000128655	ENST00000433879|ENST00000286063;ENST00000358450;ENST00000409504;ENST00000389683;ENST00000449286	.|.	.|.	.|.	5.67|5.67	4.79|4.79	0.61399|0.61399	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|.	0.28067|.	0.0692|.	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.17501|.	-1.0367|.	4|.	.|0.02654	.|T	.|1	.|.	7.0165|7.0165	0.24890|0.24890	0.2854:0.0:0.7146:0.0|0.2854:0.0:0.7146:0.0	.|.	.|.	.|.	.|.	N|X	271|663;413;305;219;305	.|.	.|ENSP00000286063:Y663X	T|Y	-|-	2|3	0|2	PDE11A|PDE11A	178300686|178300686	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.984000|0.984000	0.73092|0.73092	0.952000|0.952000	0.29149|0.29149	1.418000|1.418000	0.47098|0.47098	-0.122000|-0.122000	0.15005|0.15005	ACC|TAC		PASS	0.463	PDE11A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334313.2			25	67	25	67	---	---	---	---
TTN	7273	broad.mit.edu	37	2	179447926	179447926	+	Silent	SNP	A	A	G	rs200825430		TCGA-66-2756-01A-01D-1522-08	TCGA-66-2756-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	472c95e6-eccb-4988-be16-fdace73b2ed8	ff4f5936-f847-42ad-aedf-6a6a7fff6002	g.chr2:179447926A>G	ENST00000591111.1	-	263	60905	c.60681T>C	c.(60679-60681)gcT>gcC	p.A20227A	TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000585451.1_RNA|RP11-171I2.2_ENST00000603521.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN_ENST00000342175.6_Silent_p.A12995A|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590743.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000359218.5_Silent_p.A12928A|TTN_ENST00000460472.2_Silent_p.A12803A|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000589042.1_Silent_p.A21868A|TTN_ENST00000342992.6_Silent_p.A19300A			Q8WZ42	TITIN_HUMAN	titin	20227	Ig-like 111.				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.A19300A(1)|p.A19298A(1)|p.A12995A(1)|p.A12928A(1)|p.A12803A(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)			AAGATTTCATAGCCACACTCA	0.378																																						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.(57898-57900)GCT>GCC		titin isoform N2-A		A	,,,	0,3734		0,0,1867	52.0	51.0	51.0		38409,57900,38784,38985	-1.3	1.0	2		51	9,8217		0,9,4104	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	TTN	NM_003319.4,NM_133378.4,NM_133432.3,NM_133437.3	,,,	0,9,5971	GG,GA,AA		0.1094,0.0,0.0753	,,,	12803/26927,19300/33424,12928/27052,12995/27119	179447926	9,11951	1867	4113	5980	SO:0001819	synonymous_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179447926A>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.60681T>C	2.37:g.179447926A>G						uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Silent_p.A12995A|TTN_uc010zfi.1_Silent_p.A12928A|TTN_uc010zfj.1_Silent_p.A12803A	p.A19300A	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		262	58124	-			20227					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.57900T>C																																																																																					PASS	0.378	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		18	27	18	27	---	---	---	---
CDK15	65061	broad.mit.edu	37	2	202700416	202700416	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2756-01A-01D-1522-08	TCGA-66-2756-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	472c95e6-eccb-4988-be16-fdace73b2ed8	ff4f5936-f847-42ad-aedf-6a6a7fff6002	g.chr2:202700416G>T	ENST00000374598.4	+	8	781	c.781G>T	c.(781-783)Gtg>Ttg	p.V261L	CDK15_ENST00000488419.1_3'UTR|CDK15_ENST00000260967.2_Missense_Mutation_p.V210L|CDK15_ENST00000450471.2_Missense_Mutation_p.V261L|CDK15_ENST00000434439.1_Missense_Mutation_p.V261L|CDK15_ENST00000410091.3_Missense_Mutation_p.V210L			Q96Q40	CDK15_HUMAN	cyclin-dependent kinase 15	261	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.						ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|metal ion binding (GO:0046872)	p.V210L(1)|p.V210M(1)		breast(3)|endometrium(2)|kidney(5)|large_intestine(1)|lung(14)|ovary(1)	26					Adenosine triphosphate(DB00171)	TTCAGAAGTCGTGACCCTCTG	0.527																																						uc002uyt.2																			2	Substitution - Missense(2)	p.V210M(1)	ovary(1)|lung(1)	breast(2)|ovary(1)|lung(1)|kidney(1)	5						c.(781-783)GTG>TTG		PFTAIRE protein kinase 2	Adenosine triphosphate(DB00171)						82.0	78.0	79.0					2																	202700416		2203	4300	6503	SO:0001583	missense	65061						ATP binding|cyclin-dependent protein kinase activity|metal ion binding|protein binding	g.chr2:202700416G>T	AB053308	CCDS2350.1, CCDS58746.1, CCDS58747.1	2q33.2	2011-11-08	2009-12-16	2009-12-16	ENSG00000138395	ENSG00000138395		"""Cyclin-dependent kinases"""	14434	protein-coding gene	gene with protein product			"""amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 7"", ""PFTAIRE protein kinase 2"""	ALS2CR7, PFTK2		11586298, 16236519, 19884882	Standard	NM_139158		Approved	PFTAIRE2	uc002uyt.3	Q96Q40	OTTHUMG00000132838	ENST00000374598.4:c.781G>T	2.37:g.202700416G>T	ENSP00000363726:p.Val261Leu					CDK15_uc010ftm.2_Missense_Mutation_p.V126L|CDK15_uc002uys.2_Missense_Mutation_p.V210L|CDK15_uc010ftn.1_Missense_Mutation_p.V210L|CDK15_uc010fto.1_Missense_Mutation_p.V240L	p.V261L	NM_139158	NP_631897	Q96Q40	CDK15_HUMAN			8	830	+			261			Protein kinase.		A8K8R9|B8ZZX0|C9J1N8|C9K003|F8W6H8|Q4ZG86|Q53TV1|Q6ZMR9|Q8IUP1	Missense_Mutation	SNP	ENST00000374598.4	37	c.781G>T		.	.	.	.	.	.	.	.	.	.	G	36	5.664042	0.96745	.	.	ENSG00000138395	ENST00000410091;ENST00000260967;ENST00000450471;ENST00000434439;ENST00000374598	T;T;T;T;T	0.66099	-0.19;-0.19;-0.19;-0.19;-0.19	5.62	5.62	0.85841	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	0.79713	0.4493	M	0.75615	2.305	0.80722	D	1	D;D;D	0.76494	0.997;0.999;0.999	D;D;D	0.67103	0.93;0.949;0.915	T	0.80876	-0.1186	10	0.87932	D	0	-16.7409	20.02	0.97489	0.0:0.0:1.0:0.0	.	240;261;261	Q96Q40-2;Q96Q40;F8W6H8	.;CDK15_HUMAN;.	L	210;210;261;261;261	ENSP00000386901:V210L;ENSP00000260967:V210L;ENSP00000406472:V261L;ENSP00000412775:V261L;ENSP00000363726:V261L	ENSP00000260967:V210L	V	+	1	0	CDK15	202408661	1.000000	0.71417	0.991000	0.47740	0.979000	0.70002	9.605000	0.98321	2.809000	0.96659	0.557000	0.71058	GTG		PASS	0.527	CDK15-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000336053.2			29	35	29	35	---	---	---	---
FAM117B	150864	broad.mit.edu	37	2	203624028	203624028	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2756-01A-01D-1522-08	TCGA-66-2756-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	472c95e6-eccb-4988-be16-fdace73b2ed8	ff4f5936-f847-42ad-aedf-6a6a7fff6002	g.chr2:203624028G>T	ENST00000392238.2	+	7	1403	c.1403G>T	c.(1402-1404)aGg>aTg	p.R468M	FAM117B_ENST00000303116.6_Missense_Mutation_p.R224M			Q6P1L5	F117B_HUMAN	family with sequence similarity 117, member B	468								p.R468M(1)|p.R224M(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(4)|lung(5)|ovary(1)	17						ATGTTCAAAAGGGAACCTCCT	0.393																																						uc010zhx.1																			2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(1402-1404)AGG>ATG		amyotrophic lateral sclerosis 2 (juvenile)							99.0	96.0	97.0					2																	203624028		2203	4300	6503	SO:0001583	missense	150864							g.chr2:203624028G>T	AB053315	CCDS33362.1, CCDS33362.2	2q33	2008-08-18	2008-08-18	2008-08-18	ENSG00000138439	ENSG00000138439			14440	protein-coding gene	gene with protein product			"""amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 13"""	ALS2CR13		11586298	Standard	NM_173511		Approved	FLJ38771	uc010zhx.2	Q6P1L5	OTTHUMG00000154550	ENST00000392238.2:c.1403G>T	2.37:g.203624028G>T	ENSP00000376071:p.Arg468Met						p.R468M	NM_173511	NP_775782	Q6P1L5	F117B_HUMAN			7	1413	+			468					Q53QZ5|Q585T9|Q8N8W1|Q96Q34	Missense_Mutation	SNP	ENST00000392238.2	37	c.1403G>T	CCDS33362.2	.	.	.	.	.	.	.	.	.	.	G	32	5.160540	0.94727	.	.	ENSG00000138439	ENST00000303116;ENST00000392238	.	.	.	5.52	5.52	0.82312	.	0.000000	0.85682	D	0.000000	D	0.83700	0.5311	M	0.81942	2.565	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.85111	0.0963	9	0.87932	D	0	-13.3495	19.7987	0.96497	0.0:0.0:1.0:0.0	.	468	Q6P1L5	F117B_HUMAN	M	224;468	.	ENSP00000306299:R224M	R	+	2	0	FAM117B	203332273	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.813000	0.99286	2.767000	0.95098	0.655000	0.94253	AGG		PASS	0.393	FAM117B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000335888.3	NM_173511		45	67	45	67	---	---	---	---
ICOS	29851	broad.mit.edu	37	2	204822597	204822597	+	Missense_Mutation	SNP	A	A	G			TCGA-66-2756-01A-01D-1522-08	TCGA-66-2756-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	472c95e6-eccb-4988-be16-fdace73b2ed8	ff4f5936-f847-42ad-aedf-6a6a7fff6002	g.chr2:204822597A>G	ENST00000316386.6	+	4	644	c.577A>G	c.(577-579)Aga>Gga	p.R193G	ICOS_ENST00000435193.1_Intron	NM_012092.3	NP_036224.1	Q9Y6W8	ICOS_HUMAN	inducible T-cell co-stimulator	193					immune response (GO:0006955)|single organismal cell-cell adhesion (GO:0016337)|T cell costimulation (GO:0031295)|T cell tolerance induction (GO:0002517)	external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)		p.R193G(1)		breast(1)|large_intestine(1)|lung(4)	6						CAAAAAATCTAGACTCACAGG	0.388																																						uc002vam.2																			1	Substitution - Missense(1)		lung(1)		0						c.(577-579)AGA>GGA		inducible T-cell co-stimulator precursor							85.0	84.0	84.0					2																	204822597		2203	4300	6503	SO:0001583	missense	29851				immune response|T cell costimulation	extracellular region		g.chr2:204822597A>G	AB023135	CCDS2363.1	2q33	2014-09-17			ENSG00000163600	ENSG00000163600		"""CD molecules"""	5351	protein-coding gene	gene with protein product	"""activation-inducible lymphocyte immunomediatory molecule"""	604558				9930702, 10617205	Standard	NM_012092		Approved	AILIM, CD278	uc002vam.3	Q9Y6W8	OTTHUMG00000132880	ENST00000316386.6:c.577A>G	2.37:g.204822597A>G	ENSP00000319476:p.Arg193Gly					ICOS_uc010zip.1_Missense_Mutation_p.R193G|ICOS_uc010fua.2_Intron	p.R193G	NM_012092	NP_036224	Q9Y6W8	ICOS_HUMAN			4	644	+			193			Cytoplasmic (Potential).		Q8N6W8	Missense_Mutation	SNP	ENST00000316386.6	37	c.577A>G	CCDS2363.1	.	.	.	.	.	.	.	.	.	.	A	7.389	0.630371	0.14322	.	.	ENSG00000163600	ENST00000316386	.	.	.	5.73	0.326	0.15908	.	1.032320	0.07666	N	0.934544	T	0.24236	0.0587	N	0.16307	0.4	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.21586	-1.0241	9	0.36615	T	0.2	-12.1308	4.397	0.11367	0.5326:0.1814:0.286:0.0	.	193;193	Q53QY6;Q9Y6W8	.;ICOS_HUMAN	G	193	.	ENSP00000319476:R193G	R	+	1	2	ICOS	204530842	0.000000	0.05858	0.000000	0.03702	0.122000	0.20287	0.253000	0.18296	-0.234000	0.09782	0.383000	0.25322	AGA		PASS	0.388	ICOS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256369.1	NM_012092		31	59	31	59	---	---	---	---
SPEG	10290	broad.mit.edu	37	2	220346141	220346141	+	Silent	SNP	C	C	A	rs376444717		TCGA-66-2756-01A-01D-1522-08	TCGA-66-2756-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	472c95e6-eccb-4988-be16-fdace73b2ed8	ff4f5936-f847-42ad-aedf-6a6a7fff6002	g.chr2:220346141C>A	ENST00000312358.7	+	27	5617	c.5485C>A	c.(5485-5487)Cgg>Agg	p.R1829R	AC053503.11_ENST00000429882.1_RNA|SPEG_ENST00000485813.1_3'UTR	NM_005876.4	NP_005867.3	Q15772	SPEG_HUMAN	SPEG complex locus	1829	Protein kinase 1. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cardiac muscle cell development (GO:0055013)|in utero embryonic development (GO:0001701)|muscle organ development (GO:0007517)|negative regulation of cell proliferation (GO:0008285)|respiratory system development (GO:0060541)	nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)	p.R1829R(1)		breast(2)|central_nervous_system(3)|endometrium(10)|kidney(2)|large_intestine(9)|lung(42)|ovary(5)|pancreas(1)|prostate(8)|skin(1)|stomach(9)|upper_aerodigestive_tract(4)|urinary_tract(4)	100		Renal(207;0.0183)		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)		CAGGGAGGCCCGGGGCTTCCT	0.582																																						uc010fwg.2																			1	Substitution - coding silent(1)		lung(1)	stomach(9)|ovary(4)|central_nervous_system(1)	14						c.(5485-5487)CGG>AGG		SPEG complex locus							60.0	68.0	66.0					2																	220346141		2007	4158	6165	SO:0001819	synonymous_variant	10290				muscle organ development|negative regulation of cell proliferation	nucleus	ATP binding|protein serine/threonine kinase activity	g.chr2:220346141C>A	BC006346	CCDS42824.1, CCDS54432.1	2q35	2013-01-11	2006-04-27	2006-04-27	ENSG00000072195	ENSG00000072195		"""Immunoglobulin superfamily / I-set domain containing"""	16901	protein-coding gene	gene with protein product		615950	"""aortic preferentially expressed gene 1"""	APEG1		8663449, 10973969	Standard	NM_005876		Approved	MGC12676, KIAA1297, SPEGalpha, SPEGbeta, BPEG	uc010fwg.3	Q15772	OTTHUMG00000058925	ENST00000312358.7:c.5485C>A	2.37:g.220346141C>A							p.R1829R	NM_005876	NP_005867	Q15772	SPEG_HUMAN		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)	27	5485	+		Renal(207;0.0183)	1829			Protein kinase 1.		A8K0G6|A8MRU0|Q27J74|Q695L1|Q6FGA6|Q6ZQW1|Q6ZTL8|Q9P2P9	Silent	SNP	ENST00000312358.7	37	c.5485C>A	CCDS42824.1																																																																																				PASS	0.582	SPEG-004	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130252.2	NM_005876		25	38	25	38	---	---	---	---
PAX3	5077	broad.mit.edu	37	2	223066851	223066851	+	Missense_Mutation	SNP	G	G	T	rs1042051		TCGA-66-2756-01A-01D-1522-08	TCGA-66-2756-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	472c95e6-eccb-4988-be16-fdace73b2ed8	ff4f5936-f847-42ad-aedf-6a6a7fff6002	g.chr2:223066851G>T	ENST00000350526.4	-	8	1368	c.1232C>A	c.(1231-1233)gCg>gAg	p.A411E	PAX3_ENST00000392069.2_Missense_Mutation_p.A411E|PAX3_ENST00000409551.3_Missense_Mutation_p.A410E|PAX3_ENST00000392070.2_Missense_Mutation_p.A411E|PAX3_ENST00000336840.6_Intron|PAX3_ENST00000344493.4_Intron|PAX3_ENST00000464706.1_5'UTR	NM_181457.3	NP_852122.1	P23760	PAX3_HUMAN	paired box 3	411					apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|developmental pigmentation (GO:0048066)|heart development (GO:0007507)|mammary gland specification (GO:0060594)|muscle organ development (GO:0007517)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural crest cell migration (GO:0001755)|neural tube closure (GO:0001843)|neuron fate commitment (GO:0048663)|organ morphogenesis (GO:0009887)|positive regulation of cell proliferation (GO:0008284)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of somitogenesis (GO:0014807)|sensory perception of sound (GO:0007605)|spinal cord association neuron differentiation (GO:0021527)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.A411E(1)	PAX3/NCOA2(4)|PAX3/NCOA1(8)|PAX3/FOXO1(749)	NS(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(13)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	38		Renal(207;0.0183)		Epithelial(121;4.13e-10)|all cancers(144;1.85e-07)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		AGGGGAGAGCGCGTAATCAGT	0.542			T	"""FOXO1A, NCOA1"""	alveolar rhabdomyosarcoma		Waardenburg syndrome; craniofacial-deafness-hand syndrome																															uc010fwo.2				Dom	yes		2	2q35	5077	T	paired box gene 3	yes	Waardenburg syndrome; craniofacial-deafness-hand syndrome	M	FOXO1A|NCOA1		alveolar rhabdomyosarcoma	PAX3/FOXO1(749)|PAX3/NCOA1(8)|PAX3/NCOA2(4)	1	Substitution - Missense(1)		lung(1)	soft_tissue(761)|ovary(4)|skin(1)	766						c.(1231-1233)GCG>GAG		paired box 3 isoform PAX3							71.0	69.0	70.0					2																	223066851		2203	4300	6503	SO:0001583	missense	5077				apoptosis|organ morphogenesis|positive regulation of transcription from RNA polymerase II promoter|sensory perception of sound|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr2:223066851G>T		CCDS2449.1, CCDS2450.1, CCDS2451.1, CCDS42825.1, CCDS2448.1, CCDS42826.1, CCDS46522.1, CCDS46523.1	2q36.1	2011-06-20	2007-07-12		ENSG00000135903	ENSG00000135903		"""Paired boxes"", ""Homeoboxes / PRD class"""	8617	protein-coding gene	gene with protein product		606597	"""Waardenburg syndrome 1"", ""paired box gene 3 (Waardenburg syndrome 1)"""	WS1		1347149	Standard	NM_181461		Approved	HUP2	uc002vmt.2	P23760	OTTHUMG00000133157	ENST00000350526.4:c.1232C>A	2.37:g.223066851G>T	ENSP00000343052:p.Ala411Glu					PAX3_uc002vmt.1_Missense_Mutation_p.A411E|PAX3_uc002vmy.1_Missense_Mutation_p.A410E|PAX3_uc002vmv.1_Missense_Mutation_p.A411E|PAX3_uc002vmw.1_Intron|PAX3_uc002vmx.1_Intron	p.A411E	NM_181457	NP_852122	P23760	PAX3_HUMAN		Epithelial(121;4.13e-10)|all cancers(144;1.85e-07)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	8	1598	-		Renal(207;0.0183)	411					G5E9C1|Q16448|Q494Z3|Q494Z4|Q53T90|Q6GSJ9|Q86UQ2|Q86UQ3	Missense_Mutation	SNP	ENST00000350526.4	37	c.1232C>A	CCDS42826.1	.	.	.	.	.	.	.	.	.	.	G	27.0	4.792214	0.90453	.	.	ENSG00000135903	ENST00000392069;ENST00000350526;ENST00000392070;ENST00000409551;ENST00000464706	D;D;D;D	0.94576	-3.46;-3.46;-3.44;-3.45	5.81	5.81	0.92471	.	0.051283	0.85682	D	0.000000	D	0.95633	0.8580	L	0.46157	1.445	0.80722	D	1	P;D;D	0.64830	0.884;0.994;0.989	B;P;P	0.58620	0.424;0.78;0.842	D	0.95075	0.8208	10	0.49607	T	0.09	.	20.0784	0.97758	0.0:0.0:1.0:0.0	.	411;410;411	P23760;Q494Z4;G5E9C1	PAX3_HUMAN;.;.	E	411;411;411;410;128	ENSP00000375921:A411E;ENSP00000343052:A411E;ENSP00000375922:A411E;ENSP00000386750:A410E	ENSP00000343052:A411E	A	-	2	0	PAX3	222775095	1.000000	0.71417	0.708000	0.30435	0.566000	0.35808	9.476000	0.97823	2.736000	0.93811	0.655000	0.94253	GCG		PASS	0.542	PAX3-006	KNOWN	not_organism_supported|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000328670.1			15	24	15	24	---	---	---	---
SCG2	7857	broad.mit.edu	37	2	224462367	224462367	+	Missense_Mutation	SNP	T	T	A			TCGA-66-2756-01A-01D-1522-08	TCGA-66-2756-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	472c95e6-eccb-4988-be16-fdace73b2ed8	ff4f5936-f847-42ad-aedf-6a6a7fff6002	g.chr2:224462367T>A	ENST00000305409.2	-	2	1866	c.1634A>T	c.(1633-1635)cAg>cTg	p.Q545L		NM_003469.4	NP_003460.2	O00255	MEN1_HUMAN	secretogranin II	0			P -> S (in MEN1). {ECO:0000269|PubMed:12652570}.		brain development (GO:0007420)|cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|chromatin remodeling (GO:0006338)|DNA repair (GO:0006281)|embryonic skeletal system morphogenesis (GO:0048704)|gene expression (GO:0010467)|hemopoiesis (GO:0030097)|histone lysine methylation (GO:0034968)|leukocyte homeostasis (GO:0001776)|MAPK cascade (GO:0000165)|maternal process involved in female pregnancy (GO:0060135)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of JNK cascade (GO:0046329)|negative regulation of organ growth (GO:0046621)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of telomerase activity (GO:0051974)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|osteoblast development (GO:0002076)|osteoblast fate commitment (GO:0002051)|palate development (GO:0060021)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell division (GO:0051781)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of histone methylation (GO:0031062)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of protein binding (GO:0032092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|regulation of activin receptor signaling pathway (GO:0032925)|response to gamma radiation (GO:0010332)|response to UV (GO:0009411)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	chromatin (GO:0000785)|cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|histone methyltransferase complex (GO:0035097)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|four-way junction DNA binding (GO:0000400)|protein binding, bridging (GO:0030674)|protein N-terminus binding (GO:0047485)|R-SMAD binding (GO:0070412)|sequence-specific DNA binding (GO:0043565)|transcription regulatory region DNA binding (GO:0044212)|Y-form DNA binding (GO:0000403)	p.Q545L(1)		NS(1)|breast(1)|endometrium(1)|kidney(6)|large_intestine(10)|liver(1)|lung(16)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	44		Renal(207;0.0112)|Lung NSC(271;0.0185)|all_lung(227;0.0271)		Epithelial(121;8.16e-11)|all cancers(144;4.66e-08)|Lung(261;0.00714)|LUSC - Lung squamous cell carcinoma(224;0.008)		TTTGATGGCCTGCTCAATTTG	0.488																																						uc002vnm.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1633-1635)CAG>CTG		secretogranin II precursor							111.0	103.0	106.0					2																	224462367		2203	4300	6503	SO:0001583	missense	7857				angiogenesis|endothelial cell migration|eosinophil chemotaxis|induction of positive chemotaxis|inflammatory response|MAPKKK cascade|negative regulation of apoptosis|negative regulation of endothelial cell proliferation|positive regulation of endothelial cell proliferation|protein secretion	extracellular space|stored secretory granule	chemoattractant activity|cytokine activity	g.chr2:224462367T>A	M25756	CCDS2457.1	2q35-q36	2010-04-27	2010-04-27		ENSG00000171951	ENSG00000171951			10575	protein-coding gene	gene with protein product	"""secretoneurin"", ""chromogranin C"""	118930				8617499, 16101435	Standard	NM_003469		Approved	CHGC, SgII, SN	uc002vnm.3	P13521	OTTHUMG00000133166	ENST00000305409.2:c.1634A>T	2.37:g.224462367T>A	ENSP00000304133:p.Gln545Leu						p.Q545L	NM_003469	NP_003460	P13521	SCG2_HUMAN		Epithelial(121;8.16e-11)|all cancers(144;4.66e-08)|Lung(261;0.00714)|LUSC - Lung squamous cell carcinoma(224;0.008)	2	1767	-		Renal(207;0.0112)|Lung NSC(271;0.0185)|all_lung(227;0.0271)	545					A5HBC6|A5HBC7|A5HBC8|A5HBC9|A5HBD0|A5HBD1|A5HBD2|O00632|Q9BUF0|Q9BUK2	Missense_Mutation	SNP	ENST00000305409.2	37	c.1634A>T	CCDS2457.1	.	.	.	.	.	.	.	.	.	.	T	13.25	2.179929	0.38511	.	.	ENSG00000171951	ENST00000305409;ENST00000450330	T	0.01838	4.61	5.77	5.77	0.91146	.	0.144593	0.47455	D	0.000231	T	0.07279	0.0184	M	0.62723	1.935	0.48395	D	0.999647	P	0.47841	0.901	P	0.49999	0.628	T	0.02190	-1.1198	10	0.87932	D	0	.	16.0934	0.81106	0.0:0.0:0.0:1.0	.	545	P13521	SCG2_HUMAN	L	545;405	ENSP00000304133:Q545L	ENSP00000304133:Q545L	Q	-	2	0	SCG2	224170611	1.000000	0.71417	1.000000	0.80357	0.138000	0.21146	3.706000	0.54830	2.207000	0.71202	0.477000	0.44152	CAG		PASS	0.488	SCG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256870.2	NM_003469		42	75	42	75	---	---	---	---
DOCK10	55619	broad.mit.edu	37	2	225657779	225657779	+	Missense_Mutation	SNP	T	T	G			TCGA-66-2756-01A-01D-1522-08	TCGA-66-2756-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	472c95e6-eccb-4988-be16-fdace73b2ed8	ff4f5936-f847-42ad-aedf-6a6a7fff6002	g.chr2:225657779T>G	ENST00000258390.7	-	47	5290	c.5223A>C	c.(5221-5223)aaA>aaC	p.K1741N	DOCK10_ENST00000409592.3_Missense_Mutation_p.K1735N	NM_014689.2	NP_055504.2	Q96BY6	DOC10_HUMAN	dedicator of cytokinesis 10	1741	DHR-2.				regulation of cell migration (GO:0030334)|small GTPase mediated signal transduction (GO:0007264)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.K1739N(1)		NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(10)|large_intestine(16)|lung(40)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	87		Renal(207;0.0113)|all_lung(227;0.0486)|Lung NSC(271;0.0653)|all_hematologic(139;0.14)		Epithelial(121;2.37e-10)|all cancers(144;2.26e-07)|Lung(261;0.0143)|LUSC - Lung squamous cell carcinoma(224;0.0178)		TCTTTTCCACTTTCCAGTAAC	0.433																																						uc010fwz.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(5221-5223)AAA>AAC		dedicator of cytokinesis 10							190.0	174.0	179.0					2																	225657779		1856	4085	5941	SO:0001583	missense	55619						GTP binding	g.chr2:225657779T>G	AB014594	CCDS46528.1, CCDS74661.1	2q36.3	2013-01-10			ENSG00000135905	ENSG00000135905		"""Pleckstrin homology (PH) domain containing"""	23479	protein-coding gene	gene with protein product	"""zizimin3"""	611518				12432077	Standard	NM_014689		Approved	ZIZ3, KIAA0694	uc010fwz.1	Q96BY6	OTTHUMG00000153428	ENST00000258390.7:c.5223A>C	2.37:g.225657779T>G	ENSP00000258390:p.Lys1741Asn					DOCK10_uc002vob.2_Missense_Mutation_p.K1735N|DOCK10_uc002voa.2_Missense_Mutation_p.K397N|DOCK10_uc002voc.2_Intron	p.K1741N	NM_014689	NP_055504	Q96BY6	DOC10_HUMAN		Epithelial(121;2.37e-10)|all cancers(144;2.26e-07)|Lung(261;0.0143)|LUSC - Lung squamous cell carcinoma(224;0.0178)	47	5462	-		Renal(207;0.0113)|all_lung(227;0.0486)|Lung NSC(271;0.0653)|all_hematologic(139;0.14)	1741			DHR-2.		B3FL70|O75178|Q9NW06|Q9NXI8	Missense_Mutation	SNP	ENST00000258390.7	37	c.5223A>C	CCDS46528.1	.	.	.	.	.	.	.	.	.	.	T	14.76	2.630439	0.46944	.	.	ENSG00000135905	ENST00000409592;ENST00000258390	T;T	0.21031	3.53;2.03	5.6	5.6	0.85130	.	0.244489	0.42294	D	0.000737	T	0.14270	0.0345	N	0.14661	0.345	0.44175	D	0.996989	B;B;B	0.12630	0.001;0.006;0.002	B;B;B	0.08055	0.001;0.003;0.001	T	0.07328	-1.0778	10	0.30078	T	0.28	.	15.7852	0.78297	0.0:0.0:0.0:1.0	.	1741;1735;403	Q96BY6;B3FL70;B4DEY4	DOC10_HUMAN;.;.	N	1735;1741	ENSP00000386694:K1735N;ENSP00000258390:K1741N	ENSP00000258390:K1741N	K	-	3	2	DOCK10	225366023	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	3.782000	0.55401	2.128000	0.65567	0.455000	0.32223	AAA		PASS	0.433	DOCK10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331246.1			82	192	82	192	---	---	---	---
DNER	92737	broad.mit.edu	37	2	230456334	230456334	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2756-01A-01D-1522-08	TCGA-66-2756-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	472c95e6-eccb-4988-be16-fdace73b2ed8	ff4f5936-f847-42ad-aedf-6a6a7fff6002	g.chr2:230456334C>A	ENST00000341772.4	-	2	681	c.547G>T	c.(547-549)Ggg>Tgg	p.G183W		NM_139072.3	NP_620711.3	Q8NFT8	DNER_HUMAN	delta/notch-like EGF repeat containing	183					central nervous system development (GO:0007417)|endocytosis (GO:0006897)|glial cell differentiation (GO:0010001)|neuron migration (GO:0001764)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|skeletal muscle fiber development (GO:0048741)|synapse assembly (GO:0007416)	dendrite (GO:0030425)|early endosome (GO:0005769)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|clathrin binding (GO:0030276)|transmembrane signaling receptor activity (GO:0004888)	p.G183W(1)		NS(2)|breast(1)|endometrium(7)|kidney(1)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	63		all_lung(227;0.00413)|Renal(207;0.0113)|Lung NSC(271;0.0211)|all_hematologic(139;0.105)|Acute lymphoblastic leukemia(138;0.175)		Epithelial(121;1.4e-11)|all cancers(144;7.7e-09)|LUSC - Lung squamous cell carcinoma(224;0.034)|Lung(119;0.0375)		ACTTTCTGCCCTGTTTTCGGC	0.478																																						uc002vpv.2																			1	Substitution - Missense(1)		lung(1)	lung(5)|ovary(2)|skin(1)	8						c.(547-549)GGG>TGG		delta-notch-like EGF repeat-containing							77.0	74.0	75.0					2																	230456334		2203	4300	6503	SO:0001583	missense	92737				central nervous system development|endocytosis|neuron migration|Notch signaling pathway|synapse assembly	dendrite|early endosome|integral to membrane|plasma membrane	calcium ion binding|clathrin binding|transmembrane receptor activity	g.chr2:230456334C>A	AY358891	CCDS33390.1	2q36.3	2006-10-26			ENSG00000187957	ENSG00000187957			24456	protein-coding gene	gene with protein product		607299				11950833, 11997712	Standard	NM_139072		Approved	UNQ26, bet	uc002vpv.3	Q8NFT8	OTTHUMG00000153637	ENST00000341772.4:c.547G>T	2.37:g.230456334C>A	ENSP00000345229:p.Gly183Trp						p.G183W	NM_139072	NP_620711	Q8NFT8	DNER_HUMAN		Epithelial(121;1.4e-11)|all cancers(144;7.7e-09)|LUSC - Lung squamous cell carcinoma(224;0.034)|Lung(119;0.0375)	2	694	-		all_lung(227;0.00413)|Renal(207;0.0113)|Lung NSC(271;0.0211)|all_hematologic(139;0.105)|Acute lymphoblastic leukemia(138;0.175)	183			Extracellular (Potential).		A6NP39|Q53R88|Q53TP7|Q53TQ5|Q8IYT0|Q8TB42|Q9NTF1|Q9UDM2	Missense_Mutation	SNP	ENST00000341772.4	37	c.547G>T	CCDS33390.1	.	.	.	.	.	.	.	.	.	.	C	25.3	4.619331	0.87460	.	.	ENSG00000187957	ENST00000341772	D	0.91894	-2.93	5.75	5.75	0.90469	.	0.000000	0.85682	D	0.000000	D	0.93729	0.7996	L	0.27053	0.805	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.94396	0.7618	10	0.72032	D	0.01	.	19.9405	0.97159	0.0:1.0:0.0:0.0	.	183	Q8NFT8	DNER_HUMAN	W	183	ENSP00000345229:G183W	ENSP00000345229:G183W	G	-	1	0	DNER	230164578	1.000000	0.71417	0.994000	0.49952	0.998000	0.95712	6.734000	0.74801	2.708000	0.92522	0.655000	0.94253	GGG		PASS	0.478	DNER-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331902.1	NM_139072		24	45	24	45	---	---	---	---
ECEL1	9427	broad.mit.edu	37	2	233348877	233348877	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2756-01A-01D-1522-08	TCGA-66-2756-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	472c95e6-eccb-4988-be16-fdace73b2ed8	ff4f5936-f847-42ad-aedf-6a6a7fff6002	g.chr2:233348877G>T	ENST00000304546.1	-	7	1451	c.1241C>A	c.(1240-1242)tCc>tAc	p.S414Y	ECEL1_ENST00000409941.1_Missense_Mutation_p.S414Y	NM_004826.2	NP_004817.2	O95672	ECEL1_HUMAN	endothelin converting enzyme-like 1	414					neuropeptide signaling pathway (GO:0007218)|respiratory system process (GO:0003016)	integral component of plasma membrane (GO:0005887)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)	p.S414Y(1)		breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;7.17e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000771)|Lung(119;0.00213)|LUSC - Lung squamous cell carcinoma(224;0.00746)		GAATGGCGGGGACAGGTGTTC	0.647																																						uc002vsv.2																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(2)	2						c.(1240-1242)TCC>TAC		endothelin converting enzyme-like 1							44.0	43.0	43.0					2																	233348877		2203	4300	6503	SO:0001583	missense	9427				neuropeptide signaling pathway|proteolysis	integral to plasma membrane	metal ion binding|metalloendopeptidase activity	g.chr2:233348877G>T	Y16187	CCDS2493.1	2q37.1	2010-09-29			ENSG00000171551	ENSG00000171551			3147	protein-coding gene	gene with protein product	"""damage induced neuronal endopeptidase"""	605896				9931490, 11352565	Standard	NM_004826		Approved	XCE, DINE	uc002vsv.2	O95672	OTTHUMG00000133262	ENST00000304546.1:c.1241C>A	2.37:g.233348877G>T	ENSP00000302051:p.Ser414Tyr					ECEL1_uc010fya.1_Missense_Mutation_p.S414Y|ECEL1_uc010fyb.1_Missense_Mutation_p.S121Y	p.S414Y	NM_004826	NP_004817	O95672	ECEL1_HUMAN		Epithelial(121;7.17e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000771)|Lung(119;0.00213)|LUSC - Lung squamous cell carcinoma(224;0.00746)	7	1446	-		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)	414			Lumenal (Potential).		Q45UD9|Q53RF9|Q6UW86|Q86TH4|Q9NY95	Missense_Mutation	SNP	ENST00000304546.1	37	c.1241C>A	CCDS2493.1	.	.	.	.	.	.	.	.	.	.	G	15.88	2.963194	0.53507	.	.	ENSG00000171551	ENST00000304546;ENST00000409941	T;T	0.76968	-1.06;-1.06	5.34	4.46	0.54185	Peptidase M13 (1);	0.000000	0.85682	D	0.000000	D	0.87458	0.6182	M	0.79614	2.46	0.80722	D	1	D;D	0.89917	1.0;0.997	D;D	0.83275	0.996;0.915	D	0.88499	0.3081	10	0.59425	D	0.04	-16.8505	14.2812	0.66213	0.0719:0.0:0.9281:0.0	.	414;414	O95672-2;O95672	.;ECEL1_HUMAN	Y	414	ENSP00000302051:S414Y;ENSP00000386333:S414Y	ENSP00000302051:S414Y	S	-	2	0	ECEL1	233057121	1.000000	0.71417	0.847000	0.33407	0.114000	0.19823	9.869000	0.99810	1.273000	0.44346	-0.217000	0.12591	TCC		PASS	0.647	ECEL1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257039.2	NM_004826		10	36	10	36	---	---	---	---
OXTR	5021	broad.mit.edu	37	3	8809113	8809113	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2756-01A-01D-1522-08	TCGA-66-2756-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	472c95e6-eccb-4988-be16-fdace73b2ed8	ff4f5936-f847-42ad-aedf-6a6a7fff6002	g.chr3:8809113C>A	ENST00000316793.3	-	3	1385	c.761G>T	c.(760-762)cGc>cTc	p.R254L	CAV3_ENST00000472766.1_Intron	NM_000916.3	NP_000907.2	P30559	OXYR_HUMAN	oxytocin receptor	254					cell surface receptor signaling pathway (GO:0007166)|digestive tract development (GO:0048565)|eating behavior (GO:0042755)|ERK1 and ERK2 cascade (GO:0070371)|estrous cycle phase (GO:0060206)|female pregnancy (GO:0007565)|heart development (GO:0007507)|lactation (GO:0007595)|maternal behavior (GO:0042711)|maternal process involved in parturition (GO:0060137)|memory (GO:0007613)|muscle contraction (GO:0006936)|negative regulation of gastric acid secretion (GO:0060455)|positive regulation of blood pressure (GO:0045777)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of norepinephrine secretion (GO:0010701)|positive regulation of penile erection (GO:0060406)|positive regulation of synapse assembly (GO:0051965)|positive regulation of synaptic transmission, GABAergic (GO:0032230)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of uterine smooth muscle contraction (GO:0070474)|response to amphetamine (GO:0001975)|response to anoxia (GO:0034059)|response to cocaine (GO:0042220)|response to cytokine (GO:0034097)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to peptide hormone (GO:0043434)|response to progesterone (GO:0032570)|sleep (GO:0030431)|social behavior (GO:0035176)|sperm ejaculation (GO:0042713)|suckling behavior (GO:0001967)|telencephalon development (GO:0021537)	apical plasma membrane (GO:0016324)|cell-cell adherens junction (GO:0005913)|integral component of plasma membrane (GO:0005887)|microvillus (GO:0005902)|plasma membrane (GO:0005886)	oxytocin receptor activity (GO:0004990)|peptide hormone binding (GO:0017046)|vasopressin receptor activity (GO:0005000)	p.R254L(1)		NS(1)|endometrium(2)|large_intestine(4)|lung(5)|urinary_tract(1)	13				OV - Ovarian serous cystadenocarcinoma(96;0.15)	Carbetocin(DB01282)|Oxytocin(DB00107)	CAGGGCCACGCGCCCCCCATC	0.652																																						uc003brc.2																			1	Substitution - Missense(1)		lung(1)		0						c.(760-762)CGC>CTC		oxytocin receptor	Carbetocin(DB01282)						19.0	17.0	18.0					3																	8809113		2195	4300	6495	SO:0001583	missense	5021				female pregnancy|lactation|muscle contraction	integral to plasma membrane	oxytocin receptor activity|vasopressin receptor activity	g.chr3:8809113C>A		CCDS2570.1	3p25	2012-08-08			ENSG00000180914	ENSG00000180914		"""GPCR / Class A : Vasopressin and oxytocin receptors"""	8529	protein-coding gene	gene with protein product		167055				1313946	Standard	NM_000916		Approved		uc003brc.3	P30559	OTTHUMG00000090537	ENST00000316793.3:c.761G>T	3.37:g.8809113C>A	ENSP00000324270:p.Arg254Leu						p.R254L	NM_000916	NP_000907	P30559	OXYR_HUMAN		OV - Ovarian serous cystadenocarcinoma(96;0.15)	3	1383	-			254			Cytoplasmic (Potential).		Q15071	Missense_Mutation	SNP	ENST00000316793.3	37	c.761G>T	CCDS2570.1	.	.	.	.	.	.	.	.	.	.	C	0.010	-1.782622	0.00634	.	.	ENSG00000180914	ENST00000316793	T	0.63580	-0.05	4.75	-0.456	0.12190	GPCR, rhodopsin-like superfamily (1);	0.723775	0.14066	N	0.343736	T	0.40171	0.1106	L	0.33245	0.995	0.09310	N	1	B	0.09022	0.002	B	0.12156	0.007	T	0.14117	-1.0484	10	0.21540	T	0.41	-8.1859	1.0859	0.01652	0.1575:0.4151:0.1535:0.2738	.	254	P30559	OXYR_HUMAN	L	254	ENSP00000324270:R254L	ENSP00000324270:R254L	R	-	2	0	OXTR	8784113	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.798000	0.04565	-0.034000	0.13713	-0.258000	0.10820	CGC		PASS	0.652	OXTR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207061.2			5	5	5	5	---	---	---	---
C3orf20	84077	broad.mit.edu	37	3	14801436	14801437	+	Missense_Mutation	DNP	GG	GG	CT			TCGA-66-2756-01A-01D-1522-08	TCGA-66-2756-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	472c95e6-eccb-4988-be16-fdace73b2ed8	ff4f5936-f847-42ad-aedf-6a6a7fff6002	g.chr3:14801436_14801437GG>CT	ENST00000253697.3	+	14	2735_2736	c.2283_2284GG>CT	c.(2281-2286)ctGGac>ctCTac	p.D762Y	C3orf20_ENST00000412910.1_Missense_Mutation_p.D640Y|C3orf20_ENST00000435614.1_Missense_Mutation_p.D640Y	NM_032137.4	NP_115513.4	Q8ND61	CC020_HUMAN	chromosome 3 open reading frame 20	762						cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)		p.D762Y(2)|p.L761L(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(13)|lung(11)|ovary(4)|skin(2)	40						AGTATGACCTGGACAGCCCCCT	0.559																																						uc003byy.2																			3	Substitution - Missense(2)|Substitution - coding silent(1)		lung(3)	ovary(3)|skin(1)	4						c.(2281-2283)CTG>CTC|c.(2284-2286)GAC>TAC		hypothetical protein LOC84077																																				SO:0001583	missense	84077					cytoplasm|integral to membrane		g.chr3:14801436G>C|g.chr3:14801437G>T	AL136781	CCDS33706.1, CCDS54555.1	3p25.1	2011-01-25			ENSG00000131379	ENSG00000131379			25320	protein-coding gene	gene with protein product						11230166	Standard	NM_032137		Approved	DKFZP434N1817	uc003byy.3	Q8ND61	OTTHUMG00000155545	Exception_encountered	3.37:g.14801436_14801437delinsCT	ENSP00000253697:p.Asp762Tyr					C3orf20_uc003byz.2_Silent_p.L639L|C3orf20_uc003bza.2_Silent_p.L639L|C3orf20_uc003bzb.1_Silent_p.L262L|C3orf20_uc011avj.1_Silent_p.L88L|C3orf20_uc003byz.2_Missense_Mutation_p.D640Y|C3orf20_uc003bza.2_Missense_Mutation_p.D640Y|C3orf20_uc003bzb.1_Missense_Mutation_p.D263Y|C3orf20_uc011avj.1_Missense_Mutation_p.D89Y	p.L761L|p.D762Y	NM_032137	NP_115513	Q8ND61	CC020_HUMAN			14	2687|2688	+			761|762					Q7L0U6|Q8NCP2|Q9H0I7	Silent|Missense_Mutation	SNP	ENST00000253697.3	37	c.2283G>C|c.2284G>T	CCDS33706.1																																																																																				PASS	0.559	C3orf20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340586.1	NM_032137		5	35	5	35	---	---	---	---
KCNH8	131096	broad.mit.edu	37	3	19389265	19389265	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2756-01A-01D-1522-08	TCGA-66-2756-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	472c95e6-eccb-4988-be16-fdace73b2ed8	ff4f5936-f847-42ad-aedf-6a6a7fff6002	g.chr3:19389265G>T	ENST00000328405.2	+	5	885	c.619G>T	c.(619-621)Gca>Tca	p.A207S	KCNH8_ENST00000475063.1_3'UTR	NM_144633.2	NP_653234.2	Q96L42	KCNH8_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 8	207					potassium ion transmembrane transport (GO:0071805)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	phosphorelay sensor kinase activity (GO:0000155)|voltage-gated potassium channel activity (GO:0005249)	p.A207S(1)		NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(3)|lung(37)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	77						AGTTTCTGATGCAAAAAAGTC	0.368																																					NSCLC(124;1625 1765 8018 24930 42026)	uc003cbk.1																			1	Substitution - Missense(1)		lung(1)	lung(4)|ovary(1)	5						c.(619-621)GCA>TCA		potassium voltage-gated channel, subfamily H,							140.0	130.0	134.0					3																	19389265		2203	4300	6503	SO:0001583	missense	131096					integral to membrane	two-component sensor activity	g.chr3:19389265G>T	AY053503	CCDS2632.1	3p24.3	2012-07-05			ENSG00000183960	ENSG00000183960		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	18864	protein-coding gene	gene with protein product		608260				16382104	Standard	NM_144633		Approved	Kv12.1, elk3	uc003cbk.1	Q96L42	OTTHUMG00000129891	ENST00000328405.2:c.619G>T	3.37:g.19389265G>T	ENSP00000328813:p.Ala207Ser					KCNH8_uc011awe.1_Missense_Mutation_p.A207S|KCNH8_uc010hex.1_5'UTR	p.A207S	NM_144633	NP_653234	Q96L42	KCNH8_HUMAN			5	814	+			207			Cytoplasmic (Potential).		B7Z2I7|Q59GQ6	Missense_Mutation	SNP	ENST00000328405.2	37	c.619G>T	CCDS2632.1	.	.	.	.	.	.	.	.	.	.	G	16.67	3.187127	0.57909	.	.	ENSG00000183960	ENST00000328405	D	0.98512	-4.97	5.89	5.89	0.94794	.	0.000000	0.31358	U	0.007796	D	0.96103	0.8730	L	0.36672	1.1	0.80722	D	1	B;B	0.33345	0.049;0.409	B;B	0.31495	0.01;0.131	D	0.94622	0.7814	9	.	.	.	.	20.2561	0.98419	0.0:0.0:1.0:0.0	.	207;207	B7Z398;Q96L42	.;KCNH8_HUMAN	S	207	ENSP00000328813:A207S	.	A	+	1	0	KCNH8	19364269	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	5.779000	0.68948	2.797000	0.96272	0.563000	0.77884	GCA		PASS	0.368	KCNH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252139.2	NM_144633		60	94	60	94	---	---	---	---
TOP2B	7155	broad.mit.edu	37	3	25686809	25686809	+	Silent	SNP	T	T	C			TCGA-66-2756-01A-01D-1522-08	TCGA-66-2756-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	472c95e6-eccb-4988-be16-fdace73b2ed8	ff4f5936-f847-42ad-aedf-6a6a7fff6002	g.chr3:25686809T>C	ENST00000264331.4	-	2	221	c.222A>G	c.(220-222)tcA>tcG	p.S74S	TOP2B_ENST00000435706.2_Silent_p.S69S	NM_001068.2	NP_001059.2	Q02880	TOP2B_HUMAN	topoisomerase (DNA) II beta 180kDa	74					ATP catabolic process (GO:0006200)|axonogenesis (GO:0007409)|DNA topological change (GO:0006265)|DNA unwinding involved in DNA replication (GO:0006268)|forebrain development (GO:0030900)|mitotic DNA integrity checkpoint (GO:0044774)|mitotic recombination (GO:0006312)|neuron migration (GO:0001764)|resolution of meiotic recombination intermediates (GO:0000712)|sister chromatid segregation (GO:0000819)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|DNA topoisomerase complex (ATP-hydrolyzing) (GO:0009330)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding, bending (GO:0008301)|DNA topoisomerase type II (ATP-hydrolyzing) activity (GO:0003918)|enzyme binding (GO:0019899)|histone deacetylase binding (GO:0042826)|metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)|protein heterodimerization activity (GO:0046982)|protein kinase C binding (GO:0005080)	p.S69S(1)		breast(2)|endometrium(5)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|skin(2)|stomach(1)	36					Dactinomycin(DB00970)|Daunorubicin(DB00694)|Dexrazoxane(DB00380)|Etoposide(DB00773)	ATGGCTCCACTGACCCAATAT	0.313																																						uc011awn.1																			1	Substitution - coding silent(1)		lung(1)	breast(2)|ovary(1)|lung(1)|skin(1)	5						c.(220-222)TCA>TCG		DNA topoisomerase II, beta isozyme							180.0	167.0	171.0					3																	25686809		1861	4100	5961	SO:0001819	synonymous_variant	7155				DNA topological change|DNA-dependent DNA replication|mitotic cell cycle G2/M transition decatenation checkpoint|mitotic recombination|resolution of meiotic recombination intermediates|sister chromatid segregation	cytosol|DNA topoisomerase complex (ATP-hydrolyzing)|nucleolus|nucleoplasm|synaptonemal complex|WINAC complex	ATP binding|chromatin binding|DNA topoisomerase (ATP-hydrolyzing) activity|DNA-dependent ATPase activity|histone deacetylase binding|protein C-terminus binding|protein heterodimerization activity|protein kinase C binding|sequence-specific DNA binding transcription factor activity	g.chr3:25686809T>C	X68060	CCDS46776.1	3p24.2	2012-08-30	2002-08-29		ENSG00000077097	ENSG00000077097	5.99.1.3		11990	protein-coding gene	gene with protein product		126431	"""topoisomerase (DNA) II beta (180kD)"""			1309226, 1333583	Standard	NM_001068		Approved		uc003cdj.3	Q02880	OTTHUMG00000155596	ENST00000264331.4:c.222A>G	3.37:g.25686809T>C						TOP2B_uc003cdj.2_Silent_p.S69S	p.S74S	NM_001068	NP_001059	Q02880	TOP2B_HUMAN			2	265	-			74					Q13600|Q9UMG8|Q9UQP8	Silent	SNP	ENST00000264331.4	37	c.222A>G																																																																																					PASS	0.313	TOP2B-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding				33	115	33	115	---	---	---	---
UBP1	7342	broad.mit.edu	37	3	33481291	33481291	+	Missense_Mutation	SNP	T	T	A			TCGA-66-2756-01A-01D-1522-08	TCGA-66-2756-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	472c95e6-eccb-4988-be16-fdace73b2ed8	ff4f5936-f847-42ad-aedf-6a6a7fff6002	g.chr3:33481291T>A	ENST00000283629.3	-	1	579	c.50A>T	c.(49-51)cAc>cTc	p.H17L	UBP1_ENST00000283628.5_Missense_Mutation_p.H17L|UBP1_ENST00000447368.2_Missense_Mutation_p.H17L	NM_001128161.1|NM_014517.4	NP_001121633.1|NP_055332.3	Q9NZI7	UBIP1_HUMAN	upstream binding protein 1 (LBP-1a)	17					angiogenesis (GO:0001525)|negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)|viral genome replication (GO:0019079)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)	p.H17L(1)		breast(2)|kidney(4)|large_intestine(6)|lung(6)|ovary(2)|prostate(1)|urinary_tract(2)	23						GTCGAAGTCGTGCACCAGCCC	0.697																																						uc003cfq.3																			1	Substitution - Missense(1)		lung(1)	kidney(2)	2						c.(49-51)CAC>CTC		upstream binding protein 1 (LBP-1a) isoform a							52.0	56.0	54.0					3																	33481291		2203	4299	6502	SO:0001583	missense	7342				negative regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|viral genome replication	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity	g.chr3:33481291T>A	AF198487	CCDS2659.1, CCDS46788.1	3p22.3	2004-03-02			ENSG00000153560	ENSG00000153560			12507	protein-coding gene	gene with protein product		609784				8114710	Standard	NM_014517		Approved	LBP-1a	uc010hga.3	Q9NZI7	OTTHUMG00000130749	ENST00000283629.3:c.50A>T	3.37:g.33481291T>A	ENSP00000283629:p.His17Leu					UBP1_uc003cfr.3_Missense_Mutation_p.H17L|UBP1_uc010hga.2_Missense_Mutation_p.H17L	p.H17L	NM_014517	NP_055332	Q9NZI7	UBIP1_HUMAN			1	580	-			17					Q68CT0|Q86Y57|Q9H8V0|Q9UD76|Q9UD78	Missense_Mutation	SNP	ENST00000283629.3	37	c.50A>T	CCDS2659.1	.	.	.	.	.	.	.	.	.	.	T	17.34	3.363962	0.61513	.	.	ENSG00000153560	ENST00000283629;ENST00000447368;ENST00000283628;ENST00000456378	T;T;T;T	0.41758	2.31;2.32;2.31;0.99	3.93	2.74	0.32292	.	0.115701	0.64402	D	0.000015	T	0.22742	0.0549	N	0.08118	0	0.58432	D	0.999996	B;B	0.16396	0.0;0.017	B;B	0.23150	0.002;0.044	T	0.04593	-1.0940	10	0.52906	T	0.07	-11.8907	9.2334	0.37450	0.1622:0.0:0.0:0.8378	.	17;17	Q9NZI7-4;Q9NZI7	.;UBIP1_HUMAN	L	17	ENSP00000283629:H17L;ENSP00000395558:H17L;ENSP00000283628:H17L;ENSP00000401614:H17L	ENSP00000283628:H17L	H	-	2	0	UBP1	33456295	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	5.659000	0.68010	0.554000	0.29061	0.454000	0.30748	CAC		PASS	0.697	UBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253249.2	NM_014517		13	36	13	36	---	---	---	---
SLC22A13	9390	broad.mit.edu	37	3	38318955	38318955	+	Nonstop_Mutation	SNP	G	G	C			TCGA-66-2756-01A-01D-1522-08	TCGA-66-2756-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	472c95e6-eccb-4988-be16-fdace73b2ed8	ff4f5936-f847-42ad-aedf-6a6a7fff6002	g.chr3:38318955G>C	ENST00000311856.4	+	10	1704	c.1655G>C	c.(1654-1656)tGa>tCa	p.*552S		NM_004256.3	NP_004247.2	Q9Y226	S22AD_HUMAN	solute carrier family 22 (organic anion/urate transporter), member 13	0					nicotinate transport (GO:2001142)|organic cation transport (GO:0015695)|urate transport (GO:0015747)	apical plasma membrane (GO:0016324)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	nicotinate transporter activity (GO:0090416)|organic cation transmembrane transporter activity (GO:0015101)	p.*552S(1)		cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(7)|skin(1)|urinary_tract(1)	20				KIRC - Kidney renal clear cell carcinoma(284;0.0533)|Kidney(284;0.067)		ACATACTTCTGATTGAGGTCT	0.567																																						uc003chz.3																			1	Nonstop extension(1)		lung(1)	skin(1)	1						c.(1654-1656)TGA>TCA		solute carrier family 22 (organic anion							89.0	96.0	94.0					3																	38318955		2203	4300	6503	SO:0001578	stop_lost	9390					integral to plasma membrane	organic cation transmembrane transporter activity	g.chr3:38318955G>C	AB010438	CCDS2676.1	3p22.2	2013-07-18	2013-07-18	2003-10-15	ENSG00000172940	ENSG00000172940		"""Solute carriers"""	8494	protein-coding gene	gene with protein product		604047	"""organic cationic transporter-like 3"", ""solute carrier family 22 (organic anion transporter), member 13"""	ORCTL3		10072596, 18411268	Standard	NM_004256		Approved	OCTL1, OCTL3, OAT10	uc003chz.3	Q9Y226	OTTHUMG00000131086	ENST00000311856.4:c.1655G>C	3.37:g.38318955G>C	ENSP00000310241:p.*552Serext*85						p.*552S	NM_004256	NP_004247	Q9Y226	S22AD_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0533)|Kidney(284;0.067)	10	1709	+			552					B2RCV9|Q8IYG1	Nonstop_Mutation	SNP	ENST00000311856.4	37	c.1655G>C	CCDS2676.1	.	.	.	.	.	.	.	.	.	.	G	4.834	0.155024	0.09236	.	.	ENSG00000172940	ENST00000311856	.	.	.	2.84	2.84	0.33178	.	.	.	.	.	.	.	.	.	.	.	0.53688	D	0.999976	.	.	.	.	.	.	.	.	.	.	.	.	.	.	9.3931	0.38386	0.0:0.0:1.0:0.0	.	.	.	.	S	552	.	.	X	+	2	2	SLC22A13	38293959	0.416000	0.25424	0.475000	0.27278	0.029000	0.11900	0.262000	0.18460	1.907000	0.55213	0.655000	0.94253	TGA		PASS	0.567	SLC22A13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253746.2	NM_004256		26	45	26	45	---	---	---	---
SCN10A	6336	broad.mit.edu	37	3	38830446	38830446	+	Splice_Site	SNP	C	C	T			TCGA-66-2756-01A-01D-1522-08	TCGA-66-2756-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	472c95e6-eccb-4988-be16-fdace73b2ed8	ff4f5936-f847-42ad-aedf-6a6a7fff6002	g.chr3:38830446C>T	ENST00000449082.2	-	3	470		c.e3+1			NM_006514.2	NP_006505.2	Q9Y5Y9	SCNAA_HUMAN	sodium channel, voltage-gated, type X, alpha subunit						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.?(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)	AATCTACTCACTCAATTTTCT	0.383																																						uc003ciq.2																			1	Unknown(1)		lung(1)	ovary(5)|skin(3)|large_intestine(1)|kidney(1)	10						c.e3+1		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)						124.0	119.0	121.0					3																	38830446		2203	4300	6503	SO:0001630	splice_region_variant	6336				sensory perception	voltage-gated sodium channel complex		g.chr3:38830446C>T	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.470+1G>A	3.37:g.38830446C>T							p.E157_splice	NM_006514	NP_006505	Q9Y5Y9	SCNAA_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	3	470	-								A6NDQ1	Splice_Site	SNP	ENST00000449082.2	37	c.470_splice	CCDS33736.1	.	.	.	.	.	.	.	.	.	.	C	18.58	3.654797	0.67472	.	.	ENSG00000185313	ENST00000449082	.	.	.	5.19	5.19	0.71726	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.5106	0.90914	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	SCN10A	38805450	1.000000	0.71417	1.000000	0.80357	0.919000	0.55068	6.062000	0.71155	2.705000	0.92388	0.655000	0.94253	.		PASS	0.383	SCN10A-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109745.3	NM_006514	Intron	22	42	22	42	---	---	---	---
KLHL40	131377	broad.mit.edu	37	3	42728173	42728173	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2756-01A-01D-1522-08	TCGA-66-2756-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	472c95e6-eccb-4988-be16-fdace73b2ed8	ff4f5936-f847-42ad-aedf-6a6a7fff6002	g.chr3:42728173G>T	ENST00000287777.4	+	1	1163	c.1063G>T	c.(1063-1065)Gtt>Ttt	p.V355F		NM_152393.2	NP_689606.2	Q2TBA0	KLH40_HUMAN	kelch-like family member 40	355					multicellular organismal development (GO:0007275)	cytoplasm (GO:0005737)		p.V355F(1)									CGTCAGCCTGGTTACCAAGGA	0.572																																						uc003clv.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1063-1065)GTT>TTT		kelch repeat and BTB (POZ) domain containing 5							68.0	60.0	63.0					3																	42728173		2203	4300	6503	SO:0001583	missense	131377							g.chr3:42728173G>T	AK056577	CCDS2703.1	3p21.33	2013-07-30	2013-02-22	2013-01-08	ENSG00000157119	ENSG00000157119		"""Kelch-like"", ""BTB/POZ domain containing"""	30372	protein-coding gene	gene with protein product	"""sarcosynapsin"", ""nemaline myopathy type 8"""	615340	"""kelch repeat and BTB (POZ) domain containing 5"", ""kelch-like 40 (Drosophila)"""	KBTBD5		23746549	Standard	NM_152393		Approved	SRYP, NEM8	uc003clv.1	Q2TBA0	OTTHUMG00000133045	ENST00000287777.4:c.1063G>T	3.37:g.42728173G>T	ENSP00000287777:p.Val355Phe						p.V355F	NM_152393	NP_689606	Q2TBA0	KBTB5_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.214)	1	1163	+			355					Q86SI1|Q96MR2	Missense_Mutation	SNP	ENST00000287777.4	37	c.1063G>T	CCDS2703.1	.	.	.	.	.	.	.	.	.	.	G	18.09	3.547346	0.65311	.	.	ENSG00000157119	ENST00000287777;ENST00000452129	T	0.71222	-0.55	4.95	4.07	0.47477	Kelch-type beta propeller (1);	0.179098	0.48767	D	0.000167	T	0.81079	0.4748	M	0.76170	2.325	0.58432	D	0.999995	D	0.61697	0.99	P	0.62089	0.898	T	0.82995	-0.0180	10	0.72032	D	0.01	.	12.7982	0.57569	0.0791:0.0:0.9209:0.0	.	355	Q2TBA0	KBTB5_HUMAN	F	355;100	ENSP00000287777:V355F	ENSP00000287777:V355F	V	+	1	0	KBTBD5	42703177	1.000000	0.71417	0.558000	0.28319	0.930000	0.56654	8.025000	0.88777	1.099000	0.41499	0.557000	0.71058	GTT		PASS	0.572	KLHL40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256651.1	NM_152393		14	46	14	46	---	---	---	---
SEMA3F	6405	broad.mit.edu	37	3	50224169	50224169	+	Missense_Mutation	SNP	G	G	A			TCGA-66-2756-01A-01D-1522-08	TCGA-66-2756-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	472c95e6-eccb-4988-be16-fdace73b2ed8	ff4f5936-f847-42ad-aedf-6a6a7fff6002	g.chr3:50224169G>A	ENST00000002829.3	+	18	2421	c.1937G>A	c.(1936-1938)cGg>cAg	p.R646Q	SEMA3F_ENST00000413852.1_Missense_Mutation_p.R547Q|SEMA3F_ENST00000434342.1_Missense_Mutation_p.R615Q	NM_004186.3	NP_004177.3	Q13275	SEM3F_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3F	646	Ig-like C2-type.				axon extension involved in axon guidance (GO:0048846)|axon guidance (GO:0007411)|branchiomotor neuron axon guidance (GO:0021785)|facial nerve structural organization (GO:0021612)|negative regulation of axon extension involved in axon guidance (GO:0048843)|nerve development (GO:0021675)|neural crest cell migration (GO:0001755)|semaphorin-plexin signaling pathway involved in axon guidance (GO:1902287)|semaphorin-plexin signaling pathway involved in neuron projection guidance (GO:1902285)|sympathetic ganglion development (GO:0061549)|sympathetic neuron projection extension (GO:0097490)|sympathetic neuron projection guidance (GO:0097491)|trigeminal nerve structural organization (GO:0021637)	extracellular space (GO:0005615)|membrane (GO:0016020)	chemorepellent activity (GO:0045499)|receptor activity (GO:0004872)	p.R646Q(1)		central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)|skin(2)	17				BRCA - Breast invasive adenocarcinoma(193;0.00013)|KIRC - Kidney renal clear cell carcinoma(197;0.00599)|Kidney(197;0.00688)		CCTGGTGACCGGCGCCGAGAG	0.612																																						uc003cyj.2																			1	Substitution - Missense(1)		lung(1)	lung(1)|skin(1)	2						c.(1936-1938)CGG>CAG		semaphorin 3F precursor							29.0	27.0	27.0					3																	50224169		2203	4300	6503	SO:0001583	missense	6405				axon guidance	extracellular space|membrane	chemorepellent activity|receptor activity	g.chr3:50224169G>A	U33920	CCDS2811.1	3p21.3	2013-01-11			ENSG00000001617	ENSG00000001617		"""Semaphorins"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	10728	protein-coding gene	gene with protein product	"""sema IV"""	601124				8786119, 8649831	Standard	NM_004186		Approved	SEMAK, Sema4	uc003cyj.3	Q13275	OTTHUMG00000156806	ENST00000002829.3:c.1937G>A	3.37:g.50224169G>A	ENSP00000002829:p.Arg646Gln					SEMA3F_uc003cyk.2_Missense_Mutation_p.R615Q	p.R646Q	NM_004186	NP_004177	Q13275	SEM3F_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.00013)|KIRC - Kidney renal clear cell carcinoma(197;0.00599)|Kidney(197;0.00688)	18	2135	+			646			Ig-like C2-type.		C9JQ85|Q13274|Q13372|Q15704|Q6GTR4	Missense_Mutation	SNP	ENST00000002829.3	37	c.1937G>A	CCDS2811.1	.	.	.	.	.	.	.	.	.	.	G	35	5.582319	0.96578	.	.	ENSG00000001617	ENST00000413852;ENST00000002829;ENST00000434342	T;T;T	0.01548	4.78;4.78;4.78	6.08	6.08	0.98989	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.08044	0.0201	M	0.62088	1.915	0.44323	D	0.997208	D;D	0.69078	0.997;0.979	P;P	0.56823	0.807;0.602	T	0.00817	-1.1554	10	0.59425	D	0.04	.	20.2738	0.98482	0.0:0.0:1.0:0.0	.	615;646	C9JQ85;Q13275	.;SEM3F_HUMAN	Q	547;646;615	ENSP00000388931:R547Q;ENSP00000002829:R646Q;ENSP00000409859:R615Q	ENSP00000002829:R646Q	R	+	2	0	SEMA3F	50199173	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.951000	0.63610	2.894000	0.99253	0.655000	0.94253	CGG		PASS	0.612	SEMA3F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345929.1	NM_004186		5	15	5	15	---	---	---	---
CACNA1D	776	broad.mit.edu	37	3	53815622	53815622	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2756-01A-01D-1522-08	TCGA-66-2756-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	472c95e6-eccb-4988-be16-fdace73b2ed8	ff4f5936-f847-42ad-aedf-6a6a7fff6002	g.chr3:53815622C>T	ENST00000350061.5	+	39	5231	c.4720C>T	c.(4720-4722)Cgg>Tgg	p.R1574W	CACNA1D_ENST00000422281.2_Missense_Mutation_p.R1559W|CACNA1D_ENST00000288139.4_Missense_Mutation_p.R1594W|CACNA1D_ENST00000540742.1_Missense_Mutation_p.R466W	NM_001128840.1	NP_001122312.1	Q01668	CAC1D_HUMAN	calcium channel, voltage-dependent, L type, alpha 1D subunit	1574					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|energy reserve metabolic process (GO:0006112)|membrane depolarization during action potential (GO:0086010)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|membrane repolarization during SA node cell action potential (GO:0086052)|positive regulation of calcium ion transport (GO:0051928)|regulation of atrial cardiac muscle cell membrane repolarization (GO:0060372)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of insulin secretion (GO:0050796)|regulation of potassium ion transmembrane transport (GO:1901379)|regulation of potassium ion transmembrane transporter activity (GO:1901016)|sensory perception of sound (GO:0007605)|small molecule metabolic process (GO:0044281)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)|Z disc (GO:0030018)	alpha-actinin binding (GO:0051393)|ankyrin binding (GO:0030506)|high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)|voltage-gated calcium channel activity involved in cardiac muscle cell action potential (GO:0086007)|voltage-gated calcium channel activity involved SA node cell action potential (GO:0086059)	p.R1594W(1)		breast(3)|central_nervous_system(9)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(13)|liver(1)|lung(29)|ovary(6)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	90				BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	Amlodipine(DB00381)|Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Felodipine(DB01023)|Isradipine(DB00270)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Verapamil(DB00661)	TGAAGAACTTCGGGCTGTGAT	0.453																																						uc003dgv.3																			1	Substitution - Missense(1)		lung(1)	ovary(6)|upper_aerodigestive_tract(2)|liver(1)|central_nervous_system(1)|skin(1)	11						c.(4720-4722)CGG>TGG		calcium channel, voltage-dependent, L type,	Verapamil(DB00661)						89.0	93.0	92.0					3																	53815622		2203	4300	6503	SO:0001583	missense	776				axon guidance|energy reserve metabolic process|regulation of insulin secretion	voltage-gated calcium channel complex	voltage-gated calcium channel activity	g.chr3:53815622C>T	AB209171	CCDS2872.1, CCDS46848.1, CCDS46849.1	3p14.3	2012-03-07			ENSG00000157388	ENSG00000157388		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1391	protein-coding gene	gene with protein product		114206		CCHL1A2, CACNL1A2		1664412	Standard	NM_000720		Approved	Cav1.3, CACH3, CACN4	uc003dgu.5	Q01668	OTTHUMG00000158278	ENST00000350061.5:c.4720C>T	3.37:g.53815622C>T	ENSP00000288133:p.Arg1574Trp					CACNA1D_uc003dgu.3_Missense_Mutation_p.R1594W|CACNA1D_uc003dgy.3_Missense_Mutation_p.R1559W|CACNA1D_uc003dgw.3_Missense_Mutation_p.R1241W|CACNA1D_uc003dgx.1_Missense_Mutation_p.R750W	p.R1574W	NM_001128840	NP_001122312	Q01668	CAC1D_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	39	4883	+			1574			Cytoplasmic (Potential).		B0FYA3|Q13916|Q13931|Q71UT1|Q9UDC3	Missense_Mutation	SNP	ENST00000350061.5	37	c.4720C>T	CCDS46848.1	.	.	.	.	.	.	.	.	.	.	C	20.6	4.021485	0.75275	.	.	ENSG00000157388	ENST00000350061;ENST00000288139;ENST00000422281;ENST00000481478;ENST00000540742	D;D;D;T;T	0.97232	-4.25;-4.3;-4.27;2.74;2.74	5.39	5.39	0.77823	.	0.251590	0.32935	N	0.005466	D	0.98741	0.9577	M	0.92738	3.34	0.80722	D	1	D;D;D;D;D	0.89917	0.997;0.998;0.999;1.0;0.996	P;D;D;D;P	0.87578	0.726;0.97;0.953;0.998;0.88	D	0.99421	1.0933	10	0.87932	D	0	.	15.2594	0.73610	0.1488:0.8512:0.0:0.0	.	1559;466;1267;1574;1594	B0FYA3;F5H313;Q59GD8;Q01668;Q01668-2	.;.;.;CAC1D_HUMAN;.	W	1574;1594;1559;1267;466	ENSP00000288133:R1574W;ENSP00000288139:R1594W;ENSP00000409174:R1559W;ENSP00000418014:R1267W;ENSP00000438229:R466W	ENSP00000288139:R1594W	R	+	1	2	CACNA1D	53790662	0.110000	0.22057	0.996000	0.52242	0.997000	0.91878	0.633000	0.24598	2.699000	0.92147	0.650000	0.86243	CGG		PASS	0.453	CACNA1D-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350557.1	NM_000720		16	39	16	39	---	---	---	---
PTPRG	5793	broad.mit.edu	37	3	62187209	62187209	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2756-01A-01D-1522-08	TCGA-66-2756-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	472c95e6-eccb-4988-be16-fdace73b2ed8	ff4f5936-f847-42ad-aedf-6a6a7fff6002	g.chr3:62187209G>T	ENST00000474889.1	+	11	1735	c.1358G>T	c.(1357-1359)aGa>aTa	p.R453I	PTPRG_ENST00000295874.10_Missense_Mutation_p.R453I	NM_002841.3	NP_002832.3	P23470	PTPRG_HUMAN	protein tyrosine phosphatase, receptor type, G	453					brain development (GO:0007420)|negative regulation of epithelial cell migration (GO:0010633)|negative regulation of neuron projection development (GO:0010977)|peptidyl-tyrosine dephosphorylation (GO:0035335)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	identical protein binding (GO:0042802)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)	p.R453I(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|liver(2)|lung(15)|ovary(7)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	62				BRCA - Breast invasive adenocarcinoma(55;0.000376)|KIRC - Kidney renal clear cell carcinoma(10;0.0499)|Kidney(10;0.065)		CAAGGGACCAGAATAGTGAAA	0.373																																						uc003dlb.2																			1	Substitution - Missense(1)		lung(1)	ovary(5)|lung(2)	7						c.(1357-1359)AGA>ATA		protein tyrosine phosphatase, receptor type, G							179.0	178.0	178.0					3																	62187209		2203	4300	6503	SO:0001583	missense	5793				transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	identical protein binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr3:62187209G>T	L09247	CCDS2895.1	3p21-p14	2013-02-11			ENSG00000144724	ENSG00000144724		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9671	protein-coding gene	gene with protein product		176886		PTPG		1711217	Standard	NM_002841		Approved	RPTPG	uc003dlb.3	P23470	OTTHUMG00000158660	ENST00000474889.1:c.1358G>T	3.37:g.62187209G>T	ENSP00000418112:p.Arg453Ile					PTPRG_uc003dlc.2_Missense_Mutation_p.R453I	p.R453I	NM_002841	NP_002832	P23470	PTPRG_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.000376)|KIRC - Kidney renal clear cell carcinoma(10;0.0499)|Kidney(10;0.065)	11	2077	+			453			Extracellular (Potential).		B2RU12|B7ZLX5|Q15623|Q59EE0|Q68DU5	Missense_Mutation	SNP	ENST00000474889.1	37	c.1358G>T	CCDS2895.1	.	.	.	.	.	.	.	.	.	.	G	26.9	4.784968	0.90282	.	.	ENSG00000144724	ENST00000474889;ENST00000295874	T;T	0.64803	-0.1;-0.12	5.41	5.41	0.78517	.	0.000000	0.85682	D	0.000000	T	0.78848	0.4348	M	0.70275	2.135	0.80722	D	1	D;D	0.71674	0.998;0.998	P;D	0.66847	0.905;0.947	T	0.80511	-0.1350	10	0.87932	D	0	.	19.5668	0.95397	0.0:0.0:1.0:0.0	.	453;453	P23470-2;P23470	.;PTPRG_HUMAN	I	453	ENSP00000418112:R453I;ENSP00000295874:R453I	ENSP00000295874:R453I	R	+	2	0	PTPRG	62162249	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	9.078000	0.94023	2.700000	0.92200	0.650000	0.86243	AGA		PASS	0.373	PTPRG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351674.1	NM_002841		15	29	15	29	---	---	---	---
EOGT	285203	broad.mit.edu	37	3	69028822	69028822	+	Missense_Mutation	SNP	T	T	A			TCGA-66-2756-01A-01D-1522-08	TCGA-66-2756-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	472c95e6-eccb-4988-be16-fdace73b2ed8	ff4f5936-f847-42ad-aedf-6a6a7fff6002	g.chr3:69028822T>A	ENST00000383701.3	-	16	2073	c.1331A>T	c.(1330-1332)gAa>gTa	p.E444V	EOGT_ENST00000295571.5_Missense_Mutation_p.E360V|EOGT_ENST00000540955.1_Missense_Mutation_p.E168V|EOGT_ENST00000540764.1_Missense_Mutation_p.E343V	NM_001278689.1	NP_001265618.1	Q5NDL2	EOGT_HUMAN	EGF domain-specific O-linked N-acetylglucosamine (GlcNAc) transferase	444					protein O-linked glycosylation (GO:0006493)	endoplasmic reticulum (GO:0005783)	protein N-acetylglucosaminyltransferase activity (GO:0016262)	p.E360V(1)									CACTTACAGTTCAAATACAGC	0.393																																						uc003dnl.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1330-1332)GAA>GTA		AER61 glycosyltransferase							155.0	145.0	148.0					3																	69028822		2203	4300	6503	SO:0001583	missense	285203					extracellular region	transferase activity, transferring glycosyl groups	g.chr3:69028822T>A	AK091089	CCDS2908.1, CCDS63684.1	3p14.1	2013-10-11	2012-05-21	2012-05-21	ENSG00000163378	ENSG00000163378	2.4.1.255		28526	protein-coding gene	gene with protein product	"""AER61 glycosyltransferase"""	614789	"""chromosome 3 open reading frame 64"""	C3orf64		22310717	Standard	NM_001278689		Approved	AER61, FLJ33770	uc003dnk.3	Q5NDL2	OTTHUMG00000156279	ENST00000383701.3:c.1331A>T	3.37:g.69028822T>A	ENSP00000373206:p.Glu444Val					C3orf64_uc003dnj.2_Missense_Mutation_p.E123V|C3orf64_uc003dnk.2_Missense_Mutation_p.E360V|C3orf64_uc011bfw.1_RNA	p.E444V	NM_173654	NP_775925	Q5NDL2	AER61_HUMAN		BRCA - Breast invasive adenocarcinoma(55;4.61e-05)|Epithelial(33;0.000291)|LUSC - Lung squamous cell carcinoma(21;0.0127)|KIRC - Kidney renal clear cell carcinoma(39;0.216)	16	1736	-		Lung NSC(201;0.126)	444					A8K2U1|B4DFH5|L7X1M5|Q6MZY0|Q6P985|Q6ZTV0	Missense_Mutation	SNP	ENST00000383701.3	37	c.1331A>T		.	.	.	.	.	.	.	.	.	.	T	31	5.071774	0.93950	.	.	ENSG00000163378	ENST00000383701;ENST00000295571;ENST00000540955;ENST00000540764	.	.	.	5.78	5.78	0.91487	.	0.000000	0.85682	D	0.000000	D	0.86062	0.5843	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	D	0.89469	0.3742	9	0.87932	D	0	.	16.099	0.81152	0.0:0.0:0.0:1.0	.	444;360	Q5NDL2;Q5NDL2-3	AER61_HUMAN;.	V	444;360;168;343	.	ENSP00000295571:E360V	E	-	2	0	C3orf64	69111512	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.693000	0.84214	2.210000	0.71456	0.482000	0.46254	GAA		PASS	0.393	EOGT-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000343722.1	NM_173654		16	51	16	51	---	---	---	---
LMOD3	56203	broad.mit.edu	37	3	69168128	69168128	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2756-01A-01D-1522-08	TCGA-66-2756-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	472c95e6-eccb-4988-be16-fdace73b2ed8	ff4f5936-f847-42ad-aedf-6a6a7fff6002	g.chr3:69168128C>T	ENST00000420581.2	-	2	1557	c.1378G>A	c.(1378-1380)Gtc>Atc	p.V460I	LMOD3_ENST00000489031.1_Missense_Mutation_p.V460I|LMOD3_ENST00000475434.1_Missense_Mutation_p.V460I	NM_198271.3	NP_938012.2	Q0VAK6	LMOD3_HUMAN	leiomodin 3 (fetal)	460						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)		p.V460I(2)		breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(3)|ovary(1)	13		Lung NSC(201;0.0193)|Prostate(884;0.174)		BRCA - Breast invasive adenocarcinoma(55;7.88e-05)|Epithelial(33;0.000839)|LUSC - Lung squamous cell carcinoma(21;0.0119)|Lung(16;0.0191)|KIRC - Kidney renal clear cell carcinoma(39;0.205)|Kidney(39;0.24)		CTAAAGGGGACATTTTGGGGG	0.567																																						uc003dns.2																			2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(1378-1380)GTC>ATC		leiomodin 3 (fetal)							60.0	64.0	62.0					3																	69168128		1992	4174	6166	SO:0001583	missense	56203					cytoplasm|cytoskeleton	tropomyosin binding	g.chr3:69168128C>T	AK096900	CCDS46862.1	3p14.1	2003-03-07			ENSG00000163380	ENSG00000163380			6649	protein-coding gene	gene with protein product							Standard	NM_198271		Approved		uc003dns.2	Q0VAK6	OTTHUMG00000158774	ENST00000420581.2:c.1378G>A	3.37:g.69168128C>T	ENSP00000414670:p.Val460Ile					LMOD3_uc003dnt.2_Missense_Mutation_p.V460I	p.V460I	NM_198271	NP_938012	Q0VAK6	LMOD3_HUMAN		BRCA - Breast invasive adenocarcinoma(55;7.88e-05)|Epithelial(33;0.000839)|LUSC - Lung squamous cell carcinoma(21;0.0119)|Lung(16;0.0191)|KIRC - Kidney renal clear cell carcinoma(39;0.205)|Kidney(39;0.24)	2	1587	-		Lung NSC(201;0.0193)|Prostate(884;0.174)	460					B4DT85|Q0JTT2|Q5JPG6|Q8IUK4|Q96LS4	Missense_Mutation	SNP	ENST00000420581.2	37	c.1378G>A	CCDS46862.1	.	.	.	.	.	.	.	.	.	.	C	1.294	-0.606706	0.03717	.	.	ENSG00000163380	ENST00000420581;ENST00000489031;ENST00000475434	D;D;D	0.92099	-2.97;-2.97;-2.97	5.84	1.77	0.24775	.	0.832053	0.11369	N	0.571116	T	0.81927	0.4926	N	0.22421	0.69	0.09310	N	1	B	0.28128	0.201	B	0.16722	0.016	T	0.68938	-0.5277	10	0.27785	T	0.31	-5.4578	3.8083	0.08786	0.1168:0.4851:0.2512:0.1469	.	460	Q0VAK6	LMOD3_HUMAN	I	460	ENSP00000414670:V460I;ENSP00000417210:V460I;ENSP00000418645:V460I	ENSP00000414670:V460I	V	-	1	0	LMOD3	69250818	0.000000	0.05858	0.002000	0.10522	0.002000	0.02628	0.148000	0.16224	0.788000	0.33755	0.591000	0.81541	GTC		PASS	0.567	LMOD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352138.1	XM_067529		14	38	14	38	---	---	---	---
MITF	4286	broad.mit.edu	37	3	70008496	70008496	+	Silent	SNP	G	G	A			TCGA-66-2756-01A-01D-1522-08	TCGA-66-2756-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	472c95e6-eccb-4988-be16-fdace73b2ed8	ff4f5936-f847-42ad-aedf-6a6a7fff6002	g.chr3:70008496G>A	ENST00000448226.2	+	9	1231	c.1104G>A	c.(1102-1104)caG>caA	p.Q368Q	MITF_ENST00000352241.4_Silent_p.Q362Q|MITF_ENST00000314589.5_Silent_p.Q346Q|MITF_ENST00000328528.6_Silent_p.Q361Q|MITF_ENST00000394351.3_Silent_p.Q261Q|MITF_ENST00000314557.6_Silent_p.Q255Q|MITF_ENST00000531774.1_Silent_p.Q199Q|MITF_ENST00000394355.2_Silent_p.Q337Q|MITF_ENST00000472437.1_Silent_p.Q310Q			O75030	MITF_HUMAN	microphthalmia-associated transcription factor	368					bone remodeling (GO:0046849)|camera-type eye development (GO:0043010)|canonical Wnt signaling pathway involved in negative regulation of apoptotic process (GO:0044336)|cell fate commitment (GO:0045165)|melanocyte differentiation (GO:0030318)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|osteoclast differentiation (GO:0030316)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|regulation of cell proliferation (GO:0042127)|regulation of osteoclast differentiation (GO:0045670)|regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)|protein complex (GO:0043234)	chromatin binding (GO:0003682)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001227)	p.Q362Q(1)|p.Q261Q(1)		NS(1)|autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(5)|ovary(2)|skin(6)|stomach(1)|urinary_tract(2)	30		Lung NSC(201;0.0384)|Prostate(884;0.0526)		BRCA - Breast invasive adenocarcinoma(55;3.07e-05)|Epithelial(33;0.000138)|LUSC - Lung squamous cell carcinoma(21;0.008)|Lung(16;0.0107)|KIRC - Kidney renal clear cell carcinoma(39;0.204)|Kidney(39;0.239)		AACGAGAACAGCAACGCGCAA	0.463			A		melanoma		"""Waardenburg syndrome type 2, Tietz syndrome"""																														Melanoma(29;269 969 31479 41502 42961)	uc003dnz.2				Dom	yes		3	3p14.1	4286	A	microphthalmia-associated transcription factor	yes	Waardenburg syndrome type 2|Tietz syndrome	E			melanoma 		2	Substitution - coding silent(2)		lung(2)	ovary(2)	2						c.(1084-1086)CAG>CAA		microphthalmia-associated transcription factor							92.0	81.0	85.0					3																	70008496		2203	4300	6503	SO:0001819	synonymous_variant	4286				melanocyte differentiation|multicellular organismal development|protein complex assembly	nucleus|protein complex	DNA binding|protein binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription	g.chr3:70008496G>A		CCDS2913.1, CCDS43106.1, CCDS43107.1, CCDS46865.1, CCDS46866.1, CCDS46866.2, CCDS54607.1, CCDS74962.1	3p14.1-p12.3	2014-09-17			ENSG00000187098	ENSG00000187098		"""Basic helix-loop-helix proteins"""	7105	protein-coding gene	gene with protein product	"""homolog of mouse microphthalmia"""	156845	"""Waardenburg syndrome, type 2A"""	WS2A, WS2		8069297, 7874167, 7951321	Standard	NM_198159		Approved	MI, bHLHe32	uc003dnz.3	O75030	OTTHUMG00000149921	ENST00000448226.2:c.1104G>A	3.37:g.70008496G>A						MITF_uc011bgb.1_Silent_p.Q310Q|MITF_uc003doa.2_Silent_p.Q361Q|MITF_uc003dob.2_Silent_p.Q346Q|MITF_uc003dod.2_Silent_p.Q337Q|MITF_uc003doe.2_Silent_p.Q255Q|MITF_uc003dof.2_Silent_p.Q261Q	p.Q362Q	NM_198159	NP_937802	O75030	MITF_HUMAN		BRCA - Breast invasive adenocarcinoma(55;3.07e-05)|Epithelial(33;0.000138)|LUSC - Lung squamous cell carcinoma(21;0.008)|Lung(16;0.0107)|KIRC - Kidney renal clear cell carcinoma(39;0.204)|Kidney(39;0.239)	9	1202	+		Lung NSC(201;0.0384)|Prostate(884;0.0526)	368					B4DJL2|D3K197|E9PFN0|Q14841|Q9P2V0|Q9P2V1|Q9P2V2|Q9P2Y8	Silent	SNP	ENST00000448226.2	37	c.1086G>A																																																																																					PASS	0.463	MITF-007	KNOWN	not_organism_supported|basic	protein_coding	protein_coding	OTTHUMT00000313947.1	NM_198159		16	21	16	21	---	---	---	---
ROBO1	6091	broad.mit.edu	37	3	79174626	79174626	+	Missense_Mutation	SNP	T	T	A			TCGA-66-2756-01A-01D-1522-08	TCGA-66-2756-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	472c95e6-eccb-4988-be16-fdace73b2ed8	ff4f5936-f847-42ad-aedf-6a6a7fff6002	g.chr3:79174626T>A	ENST00000464233.1	-	3	265	c.152A>T	c.(151-153)gAc>gTc	p.D51V		NM_002941.3	NP_002932.1	Q9Y6N7	ROBO1_HUMAN	roundabout, axon guidance receptor, homolog 1 (Drosophila)	51					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|axon guidance (GO:0007411)|axon midline choice point recognition (GO:0016199)|cell adhesion (GO:0007155)|cell migration involved in sprouting angiogenesis (GO:0002042)|chemorepulsion involved in postnatal olfactory bulb interneuron migration (GO:0021836)|homophilic cell adhesion (GO:0007156)|mammary duct terminal end bud growth (GO:0060763)|negative regulation of chemokine-mediated signaling pathway (GO:0070100)|negative regulation of mammary gland epithelial cell proliferation (GO:0033600)|negative regulation of negative chemotaxis (GO:0050925)|nervous system development (GO:0007399)|positive regulation of axonogenesis (GO:0050772)|Roundabout signaling pathway (GO:0035385)	axolemma (GO:0030673)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	axon guidance receptor activity (GO:0008046)|identical protein binding (GO:0042802)|LRR domain binding (GO:0030275)	p.D51V(2)|p.D28V(1)		breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(25)|urinary_tract(1)	44		Lung SC(41;0.0257)|Lung NSC(201;0.0439)		LUSC - Lung squamous cell carcinoma(21;0.008)|Epithelial(33;0.00999)|Lung(72;0.0177)|BRCA - Breast invasive adenocarcinoma(55;0.0274)		CAGCGAATTGTCATCGTTATC	0.502																																						uc003dqe.2																			3	Substitution - Missense(3)		lung(3)	large_intestine(2)	2						c.(151-153)GAC>GTC		roundabout 1 isoform a							145.0	140.0	142.0					3																	79174626		1987	4149	6136	SO:0001583	missense	6091				activation of caspase activity|axon midline choice point recognition|cell migration involved in sprouting angiogenesis|chemorepulsion involved in postnatal olfactory bulb interneuron migration|homophilic cell adhesion|negative regulation of chemokine-mediated signaling pathway|negative regulation of mammary gland epithelial cell proliferation|negative regulation of negative chemotaxis|positive regulation of axonogenesis|Roundabout signaling pathway	cell surface|cytoplasm|integral to plasma membrane	axon guidance receptor activity|identical protein binding|LRR domain binding	g.chr3:79174626T>A	AF040990	CCDS46872.1, CCDS46872.2, CCDS54610.1, CCDS54611.1	3p12.3	2013-02-11	2001-11-28		ENSG00000169855	ENSG00000169855		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	10249	protein-coding gene	gene with protein product		602430	"""roundabout (axon guidance receptor, Drosophila) homolog 1"""			9458045, 9608531	Standard	NM_002941		Approved	DUTT1, FLJ21882, SAX3	uc003dqe.2	Q9Y6N7	OTTHUMG00000158843	ENST00000464233.1:c.152A>T	3.37:g.79174626T>A	ENSP00000420321:p.Asp51Val						p.D51V	NM_002941	NP_002932	Q9Y6N7	ROBO1_HUMAN		LUSC - Lung squamous cell carcinoma(21;0.008)|Epithelial(33;0.00999)|Lung(72;0.0177)|BRCA - Breast invasive adenocarcinoma(55;0.0274)	3	360	-		Lung SC(41;0.0257)|Lung NSC(201;0.0439)	51			Extracellular (Potential).		B2RXI1|D3DU36|E9PD49|Q1RMC7|Q7Z300|Q9BUS7	Missense_Mutation	SNP	ENST00000464233.1	37	c.152A>T	CCDS54611.1	.	.	.	.	.	.	.	.	.	.	T	18.05	3.538016	0.65085	.	.	ENSG00000169855	ENST00000464233;ENST00000398414	T	0.61510	0.1	5.43	5.43	0.79202	.	1.309670	0.05155	N	0.496747	T	0.62768	0.2455	N	0.08118	0	0.80722	D	1	D	0.71674	0.998	D	0.76071	0.987	T	0.54098	-0.8344	9	.	.	.	.	15.7693	0.78152	0.0:0.0:0.0:1.0	.	51	Q9Y6N7	ROBO1_HUMAN	V	51	ENSP00000420321:D51V	.	D	-	2	0	ROBO1	79257316	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.663000	0.68038	2.180000	0.69256	0.533000	0.62120	GAC		PASS	0.502	ROBO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352610.1	NM_002941		9	23	9	23	---	---	---	---
ARL13B	200894	broad.mit.edu	37	3	93722670	93722670	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2756-01A-01D-1522-08	TCGA-66-2756-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	472c95e6-eccb-4988-be16-fdace73b2ed8	ff4f5936-f847-42ad-aedf-6a6a7fff6002	g.chr3:93722670G>T	ENST00000394222.3	+	3	573	c.298G>T	c.(298-300)Gat>Tat	p.D100Y	ARL13B_ENST00000539730.1_Intron|ARL13B_ENST00000535334.1_5'UTR|ARL13B_ENST00000486562.1_Intron|ARL13B_ENST00000471138.1_Missense_Mutation_p.D100Y|ARL13B_ENST00000303097.7_Intron	NM_001174150.1	NP_001167621.1	Q3SXY8	AR13B_HUMAN	ADP-ribosylation factor-like 13B	100					cilium assembly (GO:0042384)|dorsal/ventral pattern formation (GO:0009953)|formation of radial glial scaffolds (GO:0021943)|heart looping (GO:0001947)|interneuron migration from the subpallium to the cortex (GO:0021830)|left/right axis specification (GO:0070986)|neural tube patterning (GO:0021532)|nonmotile primary cilium assembly (GO:0035058)|small GTPase mediated signal transduction (GO:0007264)|smoothened signaling pathway (GO:0007224)	ciliary membrane (GO:0060170)|cilium (GO:0005929)|intracellular (GO:0005622)|primary cilium (GO:0072372)	GTP binding (GO:0005525)	p.D100Y(1)		endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|urinary_tract(2)	10						GGATTCCAGTGATGAAGAGAG	0.403																																						uc003drc.2																			1	Substitution - Missense(1)		lung(1)		0						c.(298-300)GAT>TAT		ADP-ribosylation factor-like 2-like 1 isoform 1							142.0	148.0	146.0					3																	93722670		2203	4300	6503	SO:0001583	missense	200894						GTP binding	g.chr3:93722670G>T	AL713789	CCDS2924.1, CCDS2925.1, CCDS54615.1	3q11	2014-05-09	2005-11-18	2005-11-18	ENSG00000169379	ENSG00000169379		"""ADP-ribosylation factors-like"", ""ADP-ribosylation factors"""	25419	protein-coding gene	gene with protein product		608922	"""ADP-ribosylation factor-like 2-like 1"""	ARL2L1		15314642, 18674751	Standard	NR_033427		Approved	DKFZp761H079, JBTS8	uc003drf.3	Q3SXY8	OTTHUMG00000159012	ENST00000394222.3:c.298G>T	3.37:g.93722670G>T	ENSP00000377769:p.Asp100Tyr					ARL13B_uc010hop.2_Intron|ARL13B_uc003drd.2_Intron|ARL13B_uc003dre.2_Missense_Mutation_p.D85Y|ARL13B_uc003drf.2_Missense_Mutation_p.D100Y|ARL13B_uc003drg.2_5'UTR	p.D100Y	NM_182896	NP_878899	Q3SXY8	AR13B_HUMAN			3	584	+			100					D3DN29|G3V1S8|Q504W8|Q8TCL5	Missense_Mutation	SNP	ENST00000394222.3	37	c.298G>T	CCDS2925.1	.	.	.	.	.	.	.	.	.	.	G	31	5.081170	0.94050	.	.	ENSG00000169379	ENST00000394222;ENST00000471138	T;T	0.80123	-1.34;-1.34	5.93	5.93	0.95920	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.94443	0.8212	H	0.98333	4.205	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.81914	0.995;0.995	D	0.95880	0.8898	10	0.87932	D	0	-5.7558	20.3495	0.98807	0.0:0.0:1.0:0.0	.	100;100	B4DLH1;Q3SXY8	.;AR13B_HUMAN	Y	100	ENSP00000377769:D100Y;ENSP00000420780:D100Y	ENSP00000377769:D100Y	D	+	1	0	ARL13B	95205360	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.832000	0.99423	2.814000	0.96858	0.591000	0.81541	GAT		PASS	0.403	ARL13B-005	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352904.1	NM_182896		6	162	6	162	---	---	---	---
SENP7	57337	broad.mit.edu	37	3	101062529	101062529	+	Splice_Site	SNP	C	C	A			TCGA-66-2756-01A-01D-1522-08	TCGA-66-2756-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	472c95e6-eccb-4988-be16-fdace73b2ed8	ff4f5936-f847-42ad-aedf-6a6a7fff6002	g.chr3:101062529C>A	ENST00000394095.2	-	14	2160		c.e14+1		SENP7_ENST00000394091.1_Splice_Site|SENP7_ENST00000314261.7_Splice_Site|SENP7_ENST00000394094.2_Splice_Site|SENP7_ENST00000358203.3_Splice_Site|SENP7_ENST00000348610.3_Splice_Site	NM_001282802.1|NM_020654.3	NP_001269731.1|NP_065705.3	Q9BQF6	SENP7_HUMAN	SUMO1/sentrin specific peptidase 7							intracellular (GO:0005622)|nucleus (GO:0005634)	cysteine-type peptidase activity (GO:0008234)	p.?(2)		breast(2)|endometrium(1)|kidney(1)|large_intestine(16)|lung(15)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						GATATGCTAACCTGAGATACT	0.343																																						uc003dut.2																			2	Unknown(2)		lung(2)	ovary(3)|lung(2)	5						c.e14+1		sentrin/SUMO-specific protease 7 isoform 1							81.0	84.0	83.0					3																	101062529		2203	4300	6503	SO:0001630	splice_region_variant	57337				proteolysis	nucleus	cysteine-type peptidase activity	g.chr3:101062529C>A		CCDS2941.2, CCDS43121.1, CCDS63704.1, CCDS63705.1, CCDS63706.1	3q12	2008-02-05	2005-08-17		ENSG00000138468	ENSG00000138468			30402	protein-coding gene	gene with protein product		612846	"""SUMO1/sentrin specific protease 7"""			11214970, 11230166	Standard	NM_001282802		Approved		uc003dut.3	Q9BQF6	OTTHUMG00000149927	ENST00000394095.2:c.2106+1G>T	3.37:g.101062529C>A						SENP7_uc003duu.2_Splice_Site_p.Q637_splice|SENP7_uc003duv.2_Splice_Site_p.Q669_splice|SENP7_uc003duw.2_Splice_Site_p.Q636_splice|SENP7_uc003dux.2_Splice_Site_p.Q538_splice	p.Q702_splice	NM_020654	NP_065705	Q9BQF6	SENP7_HUMAN			14	2217	-								A1L3A5|A8MW39|B7WNW8|Q7Z3F4|Q96PS5|Q9C0F6|Q9HBT5	Splice_Site	SNP	ENST00000394095.2	37	c.2106_splice	CCDS2941.2	.	.	.	.	.	.	.	.	.	.	C	17.68	3.449759	0.63290	.	.	ENSG00000138468	ENST00000394095;ENST00000394094;ENST00000314261;ENST00000394091;ENST00000358203;ENST00000348610	.	.	.	4.23	4.23	0.50019	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.975	0.53087	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	SENP7	102545219	1.000000	0.71417	1.000000	0.80357	0.417000	0.31264	2.341000	0.43983	2.176000	0.68965	0.650000	0.86243	.		PASS	0.343	SENP7-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000313957.2	NM_020654	Intron	27	145	27	145	---	---	---	---
DIRC2	84925	broad.mit.edu	37	3	122591354	122591354	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2756-01A-01D-1522-08	TCGA-66-2756-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	472c95e6-eccb-4988-be16-fdace73b2ed8	ff4f5936-f847-42ad-aedf-6a6a7fff6002	g.chr3:122591354G>T	ENST00000261038.5	+	8	1629	c.1231G>T	c.(1231-1233)Gtt>Ttt	p.V411F		NM_032839.2	NP_116228.1	Q96SL1	DIRC2_HUMAN	disrupted in renal carcinoma 2	411					transport (GO:0006810)	integral component of membrane (GO:0016021)|lysosome (GO:0005764)		p.V411F(1)		endometrium(2)|large_intestine(1)|lung(14)|prostate(1)	18				GBM - Glioblastoma multiforme(114;0.0614)		TGTCTACCCAGTTCCAGAAGG	0.343																																						uc003efw.3																			1	Substitution - Missense(1)		lung(1)		0						c.(1231-1233)GTT>TTT		disrupted in renal carcinoma 2							161.0	166.0	164.0					3																	122591354		2203	4300	6503	SO:0001583	missense	84925				transport	integral to membrane		g.chr3:122591354G>T	AK027690	CCDS3018.1	3q21.1	2013-05-22			ENSG00000138463	ENSG00000138463		"""Solute carriers"""	16628	protein-coding gene	gene with protein product	"""renal cell carcinoma 4"", ""disrupted in renal cancer protein 2"""	602773				11912179	Standard	NM_032839		Approved	FLJ14784, RCC4	uc003efw.4	Q96SL1	OTTHUMG00000159553	ENST00000261038.5:c.1231G>T	3.37:g.122591354G>T	ENSP00000261038:p.Val411Phe					DIRC2_uc010hrl.2_RNA|DIRC2_uc010hrm.2_Missense_Mutation_p.V249F	p.V411F	NM_032839	NP_116228	Q96SL1	DIRC2_HUMAN		GBM - Glioblastoma multiforme(114;0.0614)	8	1370	+			411					A8K561|Q8NBX9	Missense_Mutation	SNP	ENST00000261038.5	37	c.1231G>T	CCDS3018.1	.	.	.	.	.	.	.	.	.	.	G	23.8	4.462840	0.84425	.	.	ENSG00000138463	ENST00000261038	T	0.58652	0.32	6.16	6.16	0.99307	Major facilitator superfamily domain, general substrate transporter (1);	0.053090	0.85682	D	0.000000	T	0.70971	0.3285	M	0.68593	2.085	0.80722	D	1	D	0.63046	0.992	P	0.62014	0.897	T	0.71388	-0.4608	10	0.56958	D	0.05	.	13.0629	0.59018	0.0724:0.0:0.9276:0.0	.	411	Q96SL1	DIRC2_HUMAN	F	411	ENSP00000261038:V411F	ENSP00000261038:V411F	V	+	1	0	DIRC2	124074044	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	7.138000	0.77305	2.937000	0.99478	0.650000	0.86243	GTT		PASS	0.343	DIRC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356180.2	NM_032839		58	355	58	355	---	---	---	---
SEMA5B	54437	broad.mit.edu	37	3	122632822	122632822	+	Nonsense_Mutation	SNP	G	G	T			TCGA-66-2756-01A-01D-1522-08	TCGA-66-2756-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	472c95e6-eccb-4988-be16-fdace73b2ed8	ff4f5936-f847-42ad-aedf-6a6a7fff6002	g.chr3:122632822G>T	ENST00000357599.3	-	15	2401	c.2015C>A	c.(2014-2016)tCg>tAg	p.S672*	SEMA5B_ENST00000195173.4_Nonsense_Mutation_p.S672*|SEMA5B_ENST00000451055.2_Nonsense_Mutation_p.S726*	NM_001031702.3|NM_001256348.1	NP_001026872.2|NP_001243277.1	Q9P283	SEM5B_HUMAN	sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5B	672	TSP type-1 1. {ECO:0000255|PROSITE- ProRule:PRU00210}.				cell differentiation (GO:0030154)|nervous system development (GO:0007399)	integral component of membrane (GO:0016021)	receptor activity (GO:0004872)	p.S726*(1)|p.S672*(1)		breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(13)|lung(26)|ovary(2)|pancreas(3)|skin(2)|upper_aerodigestive_tract(3)	55				GBM - Glioblastoma multiforme(114;0.0367)		CAGCGCCCACGATGACCACGG	0.667																																						uc003efz.1																			2	Substitution - Nonsense(2)		lung(2)	ovary(2)|breast(2)|pancreas(2)|central_nervous_system(1)	7						c.(2014-2016)TCG>TAG		semaphorin 5B isoform 1							37.0	40.0	39.0					3																	122632822		2203	4297	6500	SO:0001587	stop_gained	54437				cell differentiation|nervous system development	integral to membrane	receptor activity	g.chr3:122632822G>T	AB040878	CCDS35491.1, CCDS58848.1, CCDS74995.1	3q21.1	2008-07-18			ENSG00000082684	ENSG00000082684		"""Semaphorins"""	10737	protein-coding gene	gene with protein product		609298		SEMAG		8817451	Standard	NM_001256346		Approved	SemG, KIAA1445, FLJ10372	uc031sbm.1	Q9P283	OTTHUMG00000140392	ENST00000357599.3:c.2015C>A	3.37:g.122632822G>T	ENSP00000350215:p.Ser672*					SEMA5B_uc011bju.1_Nonsense_Mutation_p.S614*|SEMA5B_uc003ega.1_RNA|SEMA5B_uc003egb.1_Nonsense_Mutation_p.S672*|SEMA5B_uc010hro.1_Nonsense_Mutation_p.S614*|SEMA5B_uc003efy.1_5'Flank	p.S672*	NM_001031702	NP_001026872	Q9P283	SEM5B_HUMAN		GBM - Glioblastoma multiforme(114;0.0367)	15	2319	-			672			Extracellular (Potential).|TSP type-1 1.		A8K5U2|B7Z393|F8W9U8|Q6DD89|Q6UY12|Q9NW17	Nonsense_Mutation	SNP	ENST00000357599.3	37	c.2015C>A	CCDS35491.1	.	.	.	.	.	.	.	.	.	.	G	42	9.816429	0.99271	.	.	ENSG00000082684	ENST00000357599;ENST00000195173;ENST00000418793;ENST00000451055;ENST00000393583	.	.	.	5.02	4.13	0.48395	.	0.134462	0.52532	D	0.000064	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	14.5024	0.67732	0.0:0.1475:0.8525:0.0	.	.	.	.	X	672;672;614;726;672	.	ENSP00000195173:S672X	S	-	2	0	SEMA5B	124115512	1.000000	0.71417	0.955000	0.39395	0.997000	0.91878	9.633000	0.98432	1.298000	0.44778	0.555000	0.69702	TCG		PASS	0.667	SEMA5B-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000277165.1	NM_001031702		13	82	13	82	---	---	---	---
CHCHD6	84303	broad.mit.edu	37	3	126571494	126571494	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2756-01A-01D-1522-08	TCGA-66-2756-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	472c95e6-eccb-4988-be16-fdace73b2ed8	ff4f5936-f847-42ad-aedf-6a6a7fff6002	g.chr3:126571494G>T	ENST00000290913.3	+	5	509	c.416G>T	c.(415-417)aGg>aTg	p.R139M	CHCHD6_ENST00000508789.1_Missense_Mutation_p.R140M	NM_032343.2	NP_115719.1	Q9BRQ6	MIC25_HUMAN	coiled-coil-helix-coiled-coil-helix domain containing 6	139					cellular response to DNA damage stimulus (GO:0006974)|cristae formation (GO:0042407)	mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)		p.R139M(1)		endometrium(2)|large_intestine(3)|lung(3)	8						AAGCAGGCCAGGGAGCTGGAG	0.567																																						uc003ejf.1																			1	Substitution - Missense(1)		lung(1)		0						c.(415-417)AGG>ATG		coiled-coil-helix-coiled-coil-helix domain							113.0	92.0	99.0					3																	126571494		2203	4300	6503	SO:0001583	missense	84303							g.chr3:126571494G>T	BC006123	CCDS3041.1	3q21.3	2012-04-17			ENSG00000159685	ENSG00000159685		"""Coiled-coil-helix-coiled-coil-helix domain containing"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	28184	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 23"", ""coiled-coil-helix cristae morphology 1"""	615634				17624330, 22228767	Standard	NM_032343		Approved	MGC13016, PPP1R23, CHCM1	uc003ejf.2	Q9BRQ6	OTTHUMG00000159601	ENST00000290913.3:c.416G>T	3.37:g.126571494G>T	ENSP00000290913:p.Arg139Met					CHCHD6_uc010hsj.1_Missense_Mutation_p.R140M	p.R139M	NM_032343	NP_115719	Q9BRQ6	CHCH6_HUMAN			5	454	+			139					D6R9U0|D6RIB4|H8Y0Y7	Missense_Mutation	SNP	ENST00000290913.3	37	c.416G>T	CCDS3041.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	18.00|18.00	3.524983|3.524983	0.64747|0.64747	.|.	.|.	ENSG00000159685|ENSG00000159685	ENST00000513253|ENST00000290913;ENST00000508789	.|T;T	.|0.57273	.|0.41;0.41	4.8|4.8	1.8|1.8	0.24995|0.24995	.|.	.|0.236023	.|0.41294	.|D	.|0.000902	T|T	0.57917|0.57917	0.2086|0.2086	M|M	0.62723|0.62723	1.935|1.935	0.52501|0.52501	D|D	0.999953|0.999953	.|D;D	.|0.60575	.|0.988;0.988	.|P;P	.|0.60473	.|0.708;0.875	T|T	0.57394|0.57394	-0.7819|-0.7819	5|10	.|0.66056	.|D	.|0.02	-8.5168|-8.5168	2.9432|2.9432	0.05837|0.05837	0.3244:0.0:0.4608:0.2148|0.3244:0.0:0.4608:0.2148	.|.	.|140;139	.|D6R9U0;Q9BRQ6	.|.;CHCH6_HUMAN	W|M	73|139;140	.|ENSP00000290913:R139M;ENSP00000422912:R140M	.|ENSP00000290913:R139M	G|R	+|+	1|2	0|0	CHCHD6|CHCHD6	128054184|128054184	0.772000|0.772000	0.28567|0.28567	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	0.518000|0.518000	0.22847|0.22847	0.637000|0.637000	0.30526|0.30526	0.591000|0.591000	0.81541|0.81541	GGG|AGG		PASS	0.567	CHCHD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356432.1	NM_032343		50	45	50	45	---	---	---	---
ZBTB38	253461	broad.mit.edu	37	3	141161800	141161800	+	Silent	SNP	A	A	G			TCGA-66-2756-01A-01D-1522-08	TCGA-66-2756-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	472c95e6-eccb-4988-be16-fdace73b2ed8	ff4f5936-f847-42ad-aedf-6a6a7fff6002	g.chr3:141161800A>G	ENST00000514251.1	+	4	849	c.570A>G	c.(568-570)aaA>aaG	p.K190K	ZBTB38_ENST00000321464.5_Silent_p.K191K|ZBTB38_ENST00000441582.2_Silent_p.K190K					zinc finger and BTB domain containing 38									p.K190K(1)		breast(3)|cervix(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(3)|lung(14)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	41						CAAGTTTCAAAAAGGTCTCCG	0.502																																						uc003etw.2																			1	Substitution - coding silent(1)		lung(1)	ovary(3)	3						c.(568-570)AAA>AAG		zinc finger and BTB domain containing 38							85.0	80.0	82.0					3																	141161800		1977	4154	6131	SO:0001819	synonymous_variant	253461				positive regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr3:141161800A>G	BC015444	CCDS43157.1	3q23	2014-06-13			ENSG00000177311	ENSG00000177311		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	26636	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 171"""	612218				12477932	Standard	NM_001080412		Approved	FLJ35036, CIBZ, ZNF921, PPP1R171	uc003etw.3	Q8NAP3	OTTHUMG00000160128	ENST00000514251.1:c.570A>G	3.37:g.141161800A>G						ZBTB38_uc010hun.2_Silent_p.K187K|ZBTB38_uc010huo.2_Silent_p.K190K|ZBTB38_uc003ety.2_Silent_p.K190K|ZBTB38_uc010hup.2_Silent_p.K191K	p.K190K	NM_001080412	NP_001073881	Q8NAP3	ZBT38_HUMAN			8	1552	+			190						Silent	SNP	ENST00000514251.1	37	c.570A>G	CCDS43157.1																																																																																				PASS	0.502	ZBTB38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359329.2			192	67	192	67	---	---	---	---
ATP1B3	483	broad.mit.edu	37	3	141626098	141626098	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2756-01A-01D-1522-08	TCGA-66-2756-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	472c95e6-eccb-4988-be16-fdace73b2ed8	ff4f5936-f847-42ad-aedf-6a6a7fff6002	g.chr3:141626098C>A	ENST00000286371.3	+	3	516	c.328C>A	c.(328-330)Ctt>Att	p.L110I	ATP1B3_ENST00000462082.1_Intron|ATP1B3_ENST00000539728.1_Missense_Mutation_p.L96I	NM_001679.2	NP_001670.1	P54709	AT1B3_HUMAN	ATPase, Na+/K+ transporting, beta 3 polypeptide	110					blood coagulation (GO:0007596)|cellular potassium ion homeostasis (GO:0030007)|cellular sodium ion homeostasis (GO:0006883)|ion transmembrane transport (GO:0034220)|leukocyte migration (GO:0050900)|membrane repolarization (GO:0086009)|positive regulation of ATP catabolic process (GO:1903291)|positive regulation of ATPase activity (GO:0032781)|positive regulation of potassium ion import (GO:1903288)|positive regulation of potassium ion transmembrane transporter activity (GO:1901018)|positive regulation of sodium ion export from cell (GO:1903278)|potassium ion import (GO:0010107)|protein localization to plasma membrane (GO:0072659)|protein stabilization (GO:0050821)|sodium ion export from cell (GO:0036376)|transmembrane transport (GO:0055085)|transport (GO:0006810)	caveola (GO:0005901)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|sodium:potassium-exchanging ATPase complex (GO:0005890)	ATPase activator activity (GO:0001671)|ATPase binding (GO:0051117)|sodium:potassium-exchanging ATPase activity (GO:0005391)	p.L110I(1)		cervix(1)|endometrium(1)|lung(2)	4						CATTGAAGACCTTAAGAAGTT	0.393																																						uc003eug.1																			1	Substitution - Missense(1)		lung(1)		0						c.(328-330)CTT>ATT		Na+/K+ -ATPase beta 3 subunit							79.0	79.0	79.0					3																	141626098		2203	4300	6503	SO:0001583	missense	483				ATP biosynthetic process|blood coagulation|leukocyte migration	melanosome|sodium:potassium-exchanging ATPase complex	protein binding|sodium:potassium-exchanging ATPase activity	g.chr3:141626098C>A	BC011835	CCDS3121.1	3q23	2012-10-22			ENSG00000069849	ENSG00000069849		"""CD molecules"", ""ATPases / P-type"""	806	protein-coding gene	gene with protein product	"""sodium/potassium-transporting ATPase subunit beta-3"", ""sodium pump subunit beta-3"", ""sodium-potassium ATPase subunit beta 3 (non-catalytic)"""	601867				8798450, 9457675	Standard	NM_001679		Approved	FLJ29027, CD298	uc003eug.1	P54709	OTTHUMG00000159081	ENST00000286371.3:c.328C>A	3.37:g.141626098C>A	ENSP00000286371:p.Leu110Ile					ATP1B3_uc011bne.1_RNA|ATP1B3_uc003euh.1_Missense_Mutation_p.L96I	p.L110I	NM_001679	NP_001670	P54709	AT1B3_HUMAN			3	502	+			110			Extracellular (Potential).		B7Z1N7	Missense_Mutation	SNP	ENST00000286371.3	37	c.328C>A	CCDS3121.1	.	.	.	.	.	.	.	.	.	.	C	21.7	4.184884	0.78677	.	.	ENSG00000069849	ENST00000475483;ENST00000286371;ENST00000539728;ENST00000495216	T;T;T;T	0.44482	0.92;0.92;0.92;0.92	5.31	4.41	0.53225	.	0.061403	0.64402	N	0.000002	T	0.54398	0.1856	M	0.66378	2.025	0.58432	D	0.999998	D;D	0.56521	0.976;0.976	P;P	0.57371	0.819;0.819	T	0.52056	-0.8626	10	0.22109	T	0.4	-38.7829	13.7283	0.62771	0.154:0.846:0.0:0.0	.	96;110	D3DNF9;P54709	.;AT1B3_HUMAN	I	53;110;96;96	ENSP00000417522:L53I;ENSP00000286371:L110I;ENSP00000440307:L96I;ENSP00000419962:L96I	ENSP00000286371:L110I	L	+	1	0	ATP1B3	143108788	0.988000	0.35896	0.476000	0.27291	0.390000	0.30446	3.282000	0.51693	1.320000	0.45209	0.655000	0.94253	CTT		PASS	0.393	ATP1B3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353218.1	NM_001679		43	166	43	166	---	---	---	---
SI	6476	broad.mit.edu	37	3	164781244	164781244	+	Missense_Mutation	SNP	T	T	C			TCGA-66-2756-01A-01D-1522-08	TCGA-66-2756-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	472c95e6-eccb-4988-be16-fdace73b2ed8	ff4f5936-f847-42ad-aedf-6a6a7fff6002	g.chr3:164781244T>C	ENST00000264382.3	-	8	955	c.893A>G	c.(892-894)aAt>aGt	p.N298S		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	298	Isomaltase.				carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)	brush border (GO:0005903)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-1,4-glucosidase activity (GO:0004558)|carbohydrate binding (GO:0030246)|oligo-1,6-glucosidase activity (GO:0004574)|sucrose alpha-glucosidase activity (GO:0004575)	p.N298S(1)		NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)|Scopolamine(DB00747)	TGCATTGCTATTCATTAAAAA	0.259										HNSCC(35;0.089)																												uc003fei.2																			1	Substitution - Missense(1)		lung(1)	ovary(7)|upper_aerodigestive_tract(4)|skin(2)|pancreas(1)	14						c.(892-894)AAT>AGT		sucrase-isomaltase	Acarbose(DB00284)						42.0	50.0	47.0					3																	164781244		2175	4239	6414	SO:0001583	missense	6476				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|brush border|Golgi apparatus|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity	g.chr3:164781244T>C	X63597	CCDS3196.1	3q25.2-q26.2	2004-04-06	2004-04-06		ENSG00000090402	ENSG00000090402	3.2.1.10		10856	protein-coding gene	gene with protein product	"""Oligosaccharide alpha-1,6-glucosidase"""	609845	"""sucrase-isomaltase"""			2962903, 1353958	Standard	NM_001041		Approved		uc003fei.3	P14410	OTTHUMG00000158065	ENST00000264382.3:c.893A>G	3.37:g.164781244T>C	ENSP00000264382:p.Asn298Ser	HNSCC(35;0.089)					p.N298S	NM_001041	NP_001032	P14410	SUIS_HUMAN			8	955	-		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)	298			Lumenal.|Isomaltase.		A2RUC3|Q1JQ80|Q1RMC2	Missense_Mutation	SNP	ENST00000264382.3	37	c.893A>G	CCDS3196.1	.	.	.	.	.	.	.	.	.	.	T	19.63	3.863795	0.71949	.	.	ENSG00000090402	ENST00000264382	D	0.89196	-2.48	5.1	5.1	0.69264	Glycoside hydrolase-type carbohydrate-binding (1);	0.000000	0.85682	D	0.000000	D	0.94725	0.8298	M	0.89968	3.075	0.51482	D	0.99992	D	0.76494	0.999	P	0.62435	0.902	D	0.95739	0.8781	10	0.87932	D	0	.	14.8918	0.70614	0.0:0.0:0.0:1.0	.	298	P14410	SUIS_HUMAN	S	298	ENSP00000264382:N298S	ENSP00000264382:N298S	N	-	2	0	SI	166263938	1.000000	0.71417	1.000000	0.80357	0.894000	0.52154	7.207000	0.77899	1.931000	0.55961	0.477000	0.44152	AAT		PASS	0.259	SI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350116.1	NM_001041		6	151	6	151	---	---	---	---
ZFYVE28	57732	broad.mit.edu	37	4	2343282	2343282	+	Missense_Mutation	SNP	G	G	A			TCGA-66-2756-01A-01D-1522-08	TCGA-66-2756-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	472c95e6-eccb-4988-be16-fdace73b2ed8	ff4f5936-f847-42ad-aedf-6a6a7fff6002	g.chr4:2343282G>A	ENST00000290974.2	-	3	580	c.241C>T	c.(241-243)Ccc>Tcc	p.P81S	ZFYVE28_ENST00000511071.1_Missense_Mutation_p.P81S|ZFYVE28_ENST00000515312.1_Missense_Mutation_p.P11S|ZFYVE28_ENST00000509171.1_Missense_Mutation_p.P34S|ZFYVE28_ENST00000515169.1_Missense_Mutation_p.P11S|ZFYVE28_ENST00000505421.1_5'Flank|ZFYVE28_ENST00000503000.1_Missense_Mutation_p.P81S	NM_020972.2	NP_066023.2	Q9HCC9	LST2_HUMAN	zinc finger, FYVE domain containing 28	81					negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of epidermal growth factor-activated receptor activity (GO:0007175)	cytosol (GO:0005829)|early endosome membrane (GO:0031901)	metal ion binding (GO:0046872)|phosphatidylinositol-3-phosphate binding (GO:0032266)	p.P81S(1)		NS(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(4)	31						AAATCTCTGGGGGCGCGGTCC	0.582																																						uc003gex.1																			1	Substitution - Missense(1)		lung(1)	skin(2)|ovary(1)	3						c.(241-243)CCC>TCC		zinc finger, FYVE domain containing 28							62.0	60.0	60.0					4																	2343282		2203	4300	6503	SO:0001583	missense	57732				negative regulation of epidermal growth factor receptor activity	cytosol|early endosome membrane	metal ion binding|phosphatidylinositol-3-phosphate binding|protein binding	g.chr4:2343282G>A	AK126692	CCDS33942.1, CCDS54708.1, CCDS54709.1, CCDS54710.1, CCDS54711.1, CCDS54712.1	4p16.3	2008-05-02			ENSG00000159733	ENSG00000159733		"""Zinc fingers, FYVE domain containing"""	29334	protein-coding gene	gene with protein product		614176				10997877	Standard	NM_020972		Approved	KIAA1643	uc003gex.2	Q9HCC9	OTTHUMG00000160292	ENST00000290974.2:c.241C>T	4.37:g.2343282G>A	ENSP00000290974:p.Pro81Ser					ZFYVE28_uc011bvk.1_Missense_Mutation_p.P11S|ZFYVE28_uc011bvl.1_Missense_Mutation_p.P81S|ZFYVE28_uc003gey.3_Missense_Mutation_p.P11S|ZFYVE28_uc003gez.2_Missense_Mutation_p.P34S|ZFYVE28_uc003gew.1_5'Flank	p.P81S	NM_020972	NP_066023	Q9HCC9	LST2_HUMAN			3	560	-			81					B2RP83|B3KX50|B7Z1Q7|B7Z2G9|B7Z2M2|B7ZB19|E9PB54|E9PB64|E9PG77|Q7Z6J3	Missense_Mutation	SNP	ENST00000290974.2	37	c.241C>T	CCDS33942.1	.	.	.	.	.	.	.	.	.	.	G	7.917	0.737673	0.15574	.	.	ENSG00000159733	ENST00000290974;ENST00000511071;ENST00000515312;ENST00000515169;ENST00000509171;ENST00000503000;ENST00000508184	T;T;T;T;T;T;T	0.39997	1.05;1.05;1.05;1.05;1.05;1.05;1.05	4.77	2.81	0.32909	.	0.159169	0.53938	D	0.000056	T	0.17789	0.0427	N	0.14661	0.345	0.32374	N	0.55541	B;B;P	0.40431	0.063;0.264;0.717	B;B;B	0.35813	0.013;0.085;0.211	T	0.16719	-1.0393	10	0.09843	T	0.71	.	5.4451	0.16531	0.1094:0.0:0.4899:0.4007	.	81;34;81	Q9HCC9-2;E9PB54;Q9HCC9	.;.;LST2_HUMAN	S	81;81;11;11;34;81;11	ENSP00000290974:P81S;ENSP00000425706:P81S;ENSP00000426299:P11S;ENSP00000425766:P11S;ENSP00000422638:P34S;ENSP00000423694:P81S;ENSP00000427471:P11S	ENSP00000290974:P81S	P	-	1	0	ZFYVE28	2313080	1.000000	0.71417	0.713000	0.30519	0.592000	0.36648	3.261000	0.51530	1.002000	0.39104	0.591000	0.81541	CCC		PASS	0.582	ZFYVE28-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000360078.1	XM_035371		29	42	29	42	---	---	---	---
LDB2	9079	broad.mit.edu	37	4	16510279	16510279	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2756-01A-01D-1522-08	TCGA-66-2756-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	472c95e6-eccb-4988-be16-fdace73b2ed8	ff4f5936-f847-42ad-aedf-6a6a7fff6002	g.chr4:16510279C>T	ENST00000304523.5	-	7	1093	c.770G>A	c.(769-771)cGg>cAg	p.R257Q	LDB2_ENST00000515064.1_Missense_Mutation_p.R257Q|LDB2_ENST00000503178.2_Missense_Mutation_p.R133Q|LDB2_ENST00000441778.2_Missense_Mutation_p.R257Q|RP11-446J8.1_ENST00000512370.1_RNA|LDB2_ENST00000502640.1_Missense_Mutation_p.R257Q	NM_001290.3	NP_001281.1	O43679	LDB2_HUMAN	LIM domain binding 2	257					epithelial structure maintenance (GO:0010669)|hair follicle development (GO:0001942)|positive regulation of cellular component biogenesis (GO:0044089)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|somatic stem cell maintenance (GO:0035019)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	LIM domain binding (GO:0030274)|transcription cofactor activity (GO:0003712)	p.R257Q(2)		breast(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(23)|urinary_tract(1)	33						CCTTTTTCTCCGTTTGGTTGT	0.478																																						uc003goz.2																			2	Substitution - Missense(2)		lung(2)		0						c.(769-771)CGG>CAG		LIM domain binding 2 isoform a							251.0	205.0	221.0					4																	16510279		2203	4300	6503	SO:0001583	missense	9079						LIM domain binding|transcription cofactor activity	g.chr4:16510279C>T	AF068651	CCDS3420.1, CCDS47031.1	4p16	2008-08-01			ENSG00000169744	ENSG00000169744			6533	protein-coding gene	gene with protein product		603450				9853615, 9880598, 10861853	Standard	NM_001290		Approved	CLIM1, LDB1	uc003goz.3	O43679	OTTHUMG00000048212	ENST00000304523.5:c.770G>A	4.37:g.16510279C>T	ENSP00000306772:p.Arg257Gln					LDB2_uc003gpa.2_Missense_Mutation_p.R257Q|LDB2_uc003gpb.2_Missense_Mutation_p.R257Q|LDB2_uc011bxh.1_Missense_Mutation_p.R229Q|LDB2_uc010iee.2_Missense_Mutation_p.R257Q|LDB2_uc003goy.2_Missense_Mutation_p.R132Q|LDB2_uc011bxi.1_Missense_Mutation_p.R133Q	p.R257Q	NM_001290	NP_001281	O43679	LDB2_HUMAN			7	1086	-			257					O60619|O75480	Missense_Mutation	SNP	ENST00000304523.5	37	c.770G>A	CCDS3420.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	36|36	5.691075|5.691075	0.96793|0.96793	.|.	.|.	ENSG00000169744|ENSG00000169744	ENST00000507464|ENST00000515064;ENST00000441778;ENST00000304523;ENST00000502640;ENST00000503178	.|T;T;T;T;T	.|0.25250	.|1.81;1.81;1.81;1.81;1.81	5.83|5.83	5.83|5.83	0.93111|0.93111	.|.	.|0.000000	.|0.64402	.|D	.|0.000010	T|T	0.55497|0.55497	0.1924|0.1924	M|M	0.81497|0.81497	2.545|2.545	0.80722|0.80722	D|D	1|1	.|D;D;D;P;D;D;D	.|0.89917	.|0.999;0.994;0.968;0.716;1.0;0.998;1.0	.|D;P;B;B;D;D;D	.|0.83275	.|0.974;0.885;0.269;0.169;0.996;0.99;0.996	T|T	0.51276|0.51276	-0.8726|-0.8726	5|10	.|0.38643	.|T	.|0.18	-17.6274|-17.6274	19.1044|19.1044	0.93287|0.93287	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|133;223;257;257;257;257;233	.|B7Z2D3;B7Z6D0;E9PFI4;G5E9Y7;O43679-2;O43679;O43679-3	.|.;.;.;.;.;LDB2_HUMAN;.	R|Q	178|257;257;257;257;133	.|ENSP00000422552:R257Q;ENSP00000392089:R257Q;ENSP00000306772:R257Q;ENSP00000423963:R257Q;ENSP00000440940:R133Q	.|ENSP00000306772:R257Q	G|R	-|-	1|2	0|0	LDB2|LDB2	16119377|16119377	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.988000|0.988000	0.76386|0.76386	7.818000|7.818000	0.86416|0.86416	2.756000|2.756000	0.94617|0.94617	0.655000|0.655000	0.94253|0.94253	GGA|CGG		PASS	0.478	LDB2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000250321.2			45	54	45	54	---	---	---	---
LGI2	55203	broad.mit.edu	37	4	25014047	25014047	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2756-01A-01D-1522-08	TCGA-66-2756-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	472c95e6-eccb-4988-be16-fdace73b2ed8	ff4f5936-f847-42ad-aedf-6a6a7fff6002	g.chr4:25014047C>A	ENST00000382114.4	-	7	915	c.730G>T	c.(730-732)Gtg>Ttg	p.V244L		NM_018176.3	NP_060646.2	Q8N0V4	LGI2_HUMAN	leucine-rich repeat LGI family, member 2	244						extracellular region (GO:0005576)		p.V244L(1)		breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(15)|prostate(1)|skin(3)|stomach(2)	33		Breast(46;0.173)				GCGATGGCCACGTACACATCG	0.468																																						uc003grf.2																			1	Substitution - Missense(1)		lung(1)		0						c.(730-732)GTG>TTG		leucine-rich repeat LGI family, member 2							148.0	124.0	132.0					4																	25014047		2203	4300	6503	SO:0001583	missense	55203					extracellular region		g.chr4:25014047C>A	AJ487516	CCDS3431.1	4p15.31	2008-07-28			ENSG00000153012	ENSG00000153012			18710	protein-coding gene	gene with protein product		608301				12023020, 16014869	Standard	NM_018176		Approved	KIAA1916, FLJ10675	uc003grf.2	Q8N0V4	OTTHUMG00000097749	ENST00000382114.4:c.730G>T	4.37:g.25014047C>A	ENSP00000371548:p.Val244Leu						p.V244L	NM_018176	NP_060646	Q8N0V4	LGI2_HUMAN			7	829	-		Breast(46;0.173)	244			EAR 1.		Q3MIN2|Q8NDW6|Q96PX2|Q9NVK4	Missense_Mutation	SNP	ENST00000382114.4	37	c.730G>T	CCDS3431.1	.	.	.	.	.	.	.	.	.	.	C	18.05	3.537685	0.65085	.	.	ENSG00000153012	ENST00000382114	T	0.75704	-0.96	4.81	4.81	0.61882	.	0.000000	0.85682	D	0.000000	T	0.73055	0.3538	L	0.59436	1.845	0.80722	D	1	B	0.26902	0.163	B	0.31495	0.131	T	0.69442	-0.5144	10	0.25106	T	0.35	-17.4691	18.2456	0.89984	0.0:1.0:0.0:0.0	.	244	Q8N0V4	LGI2_HUMAN	L	244	ENSP00000371548:V244L	ENSP00000371548:V244L	V	-	1	0	LGI2	24623145	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.644000	0.83416	2.373000	0.80994	0.555000	0.69702	GTG		PASS	0.468	LGI2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214978.1			81	76	81	76	---	---	---	---
PCDH7	5099	broad.mit.edu	37	4	30724143	30724143	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2756-01A-01D-1522-08	TCGA-66-2756-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	472c95e6-eccb-4988-be16-fdace73b2ed8	ff4f5936-f847-42ad-aedf-6a6a7fff6002	g.chr4:30724143C>A	ENST00000361762.2	+	1	2107	c.1099C>A	c.(1099-1101)Ctc>Atc	p.L367I	PCDH7_ENST00000543491.1_Missense_Mutation_p.L367I	NM_002589.2	NP_002580.2	O60245	PCDH7_HUMAN	protocadherin 7	367	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.L367I(1)|p.L320I(1)		NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(8)|liver(1)|lung(26)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	55						GTCCGGCTGGCTCAGCGTCCT	0.692																																						uc003gsk.1																			2	Substitution - Missense(2)		lung(2)	upper_aerodigestive_tract(1)|ovary(1)|liver(1)|skin(1)	4						c.(1099-1101)CTC>ATC		protocadherin 7 isoform a precursor							28.0	32.0	31.0					4																	30724143		2198	4288	6486	SO:0001583	missense	5099				homophilic cell adhesion	integral to plasma membrane	calcium ion binding	g.chr4:30724143C>A	AB006755	CCDS33971.1, CCDS75116.1	4p15	2014-06-13	2007-02-12			ENSG00000169851		"""Cadherins / Protocadherins : Non-clustered"""	8659	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 120"""	602988	"""BH-protocadherin (brain-heart)"""			9615233	Standard	NM_002589		Approved	BH-Pcdh, PPP1R120	uc021xnd.1	O60245		ENST00000361762.2:c.1099C>A	4.37:g.30724143C>A	ENSP00000355243:p.Leu367Ile					PCDH7_uc011bxw.1_Missense_Mutation_p.L320I|PCDH7_uc011bxx.1_Missense_Mutation_p.L367I	p.L367I	NM_002589	NP_002580	O60245	PCDH7_HUMAN			1	2107	+			367			Cadherin 3.|Extracellular (Potential).		O60246|O60247|Q4W5C4	Missense_Mutation	SNP	ENST00000361762.2	37	c.1099C>A	CCDS33971.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	0.351|0.351	-0.944781|-0.944781	0.02304|0.02304	.|.	.|.	ENSG00000169851|ENSG00000169851	ENST00000511884|ENST00000361762;ENST00000543491;ENST00000333135	.|T;T	.|0.57752	.|0.38;0.38	5.69|5.69	4.85|4.85	0.62838|0.62838	.|Cadherin (5);Cadherin-like (1);	.|.	.|.	.|.	.|.	T|T	0.31009|0.31009	0.0783|0.0783	N|N	0.00754|0.00754	-1.215|-1.215	0.52501|0.52501	D|D	0.999958|0.999958	.|B;B;B	.|0.20261	.|0.035;0.035;0.043	.|B;B;B	.|0.43301	.|0.291;0.154;0.415	T|T	0.38993|0.38993	-0.9635|-0.9635	5|9	.|0.02654	.|T	.|1	.|.	14.6284|14.6284	0.68638|0.68638	0.0:0.9301:0.0:0.0699|0.0:0.9301:0.0:0.0699	.|.	.|367;320;367	.|F5GWJ1;O60245-3;O60245	.|.;.;PCDH7_HUMAN	D|I	56|367;367;320	.|ENSP00000355243:L367I;ENSP00000441802:L367I	.|ENSP00000330302:L320I	A|L	+|+	2|1	0|0	PCDH7|PCDH7	30333241|30333241	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.059000|0.059000	0.15707|0.15707	3.450000|3.450000	0.52957|0.52957	1.411000|1.411000	0.46957|0.46957	-0.136000|-0.136000	0.14681|0.14681	GCT|CTC		PASS	0.692	PCDH7-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000360366.1	NM_032457, NM_002589		21	15	21	15	---	---	---	---
PCDH7	5099	broad.mit.edu	37	4	30725461	30725461	+	Missense_Mutation	SNP	A	A	C			TCGA-66-2756-01A-01D-1522-08	TCGA-66-2756-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	472c95e6-eccb-4988-be16-fdace73b2ed8	ff4f5936-f847-42ad-aedf-6a6a7fff6002	g.chr4:30725461A>C	ENST00000361762.2	+	1	3425	c.2417A>C	c.(2416-2418)aAa>aCa	p.K806T	PCDH7_ENST00000543491.1_Missense_Mutation_p.K806T	NM_002589.2	NP_002580.2	O60245	PCDH7_HUMAN	protocadherin 7	806	Cadherin 7. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.K806T(1)|p.K759T(1)		NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(8)|liver(1)|lung(26)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	55						TTAGTGGGAAAACTCACCCAA	0.498																																						uc003gsk.1																			2	Substitution - Missense(2)		lung(2)	upper_aerodigestive_tract(1)|ovary(1)|liver(1)|skin(1)	4						c.(2416-2418)AAA>ACA		protocadherin 7 isoform a precursor							48.0	50.0	49.0					4																	30725461		2203	4300	6503	SO:0001583	missense	5099				homophilic cell adhesion	integral to plasma membrane	calcium ion binding	g.chr4:30725461A>C	AB006755	CCDS33971.1, CCDS75116.1	4p15	2014-06-13	2007-02-12			ENSG00000169851		"""Cadherins / Protocadherins : Non-clustered"""	8659	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 120"""	602988	"""BH-protocadherin (brain-heart)"""			9615233	Standard	NM_002589		Approved	BH-Pcdh, PPP1R120	uc021xnd.1	O60245		ENST00000361762.2:c.2417A>C	4.37:g.30725461A>C	ENSP00000355243:p.Lys806Thr					PCDH7_uc011bxw.1_Missense_Mutation_p.K759T|PCDH7_uc011bxx.1_Missense_Mutation_p.K806T	p.K806T	NM_002589	NP_002580	O60245	PCDH7_HUMAN			1	3425	+			806			Extracellular (Potential).|Cadherin 7.		O60246|O60247|Q4W5C4	Missense_Mutation	SNP	ENST00000361762.2	37	c.2417A>C	CCDS33971.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	10.80|10.80	1.452614|1.452614	0.26074|0.26074	.|.	.|.	ENSG00000169851|ENSG00000169851	ENST00000511884|ENST00000361762;ENST00000543491;ENST00000333135	.|T;T	.|0.52057	.|0.68;0.68	4.96|4.96	4.96|4.96	0.65561|0.65561	.|Cadherin (4);Cadherin-like (1);	.|.	.|.	.|.	.|.	T|T	0.37073|0.37073	0.0990|0.0990	N|N	0.17674|0.17674	0.51|0.51	0.48975|0.48975	D|D	0.999738|0.999738	.|B;B;B	.|0.20459	.|0.02;0.02;0.045	.|B;B;B	.|0.25405	.|0.007;0.007;0.06	T|T	0.29058|0.29058	-1.0024|-1.0024	5|9	.|0.87932	.|D	.|0	.|.	14.7983|14.7983	0.69894|0.69894	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	.|806;759;806	.|F5GWJ1;O60245-3;O60245	.|.;.;PCDH7_HUMAN	N|T	495|806;806;759	.|ENSP00000355243:K806T;ENSP00000441802:K806T	.|ENSP00000330302:K759T	K|K	+|+	3|2	2|0	PCDH7|PCDH7	30334559|30334559	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	5.916000|5.916000	0.69981|0.69981	2.084000|2.084000	0.62774|0.62774	0.533000|0.533000	0.62120|0.62120	AAA|AAA		PASS	0.498	PCDH7-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000360366.1	NM_032457, NM_002589		11	26	11	26	---	---	---	---
ARAP2	116984	broad.mit.edu	37	4	36160997	36160997	+	Missense_Mutation	SNP	C	C	A	rs112661490		TCGA-66-2756-01A-01D-1522-08	TCGA-66-2756-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	472c95e6-eccb-4988-be16-fdace73b2ed8	ff4f5936-f847-42ad-aedf-6a6a7fff6002	g.chr4:36160997C>A	ENST00000303965.4	-	14	3062	c.2573G>T	c.(2572-2574)gGg>gTg	p.G858V		NM_015230.3	NP_056045.2	Q8WZ64	ARAP2_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 2	858					regulation of ARF GTPase activity (GO:0032312)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	ARF GTPase activator activity (GO:0008060)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|zinc ion binding (GO:0008270)	p.G858V(1)|p.G858L(1)		breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(32)|ovary(2)|pancreas(1)|prostate(3)|skin(7)|urinary_tract(1)	82						CAGACTTTGCCCAGCTTTCTT	0.468																																						uc003gsq.1																			2	Substitution - Missense(2)		lung(2)	ovary(1)|pancreas(1)|skin(1)	3						c.(2572-2574)GGG>GTG		ArfGAP with RhoGAP domain, ankyrin repeat and PH							117.0	123.0	121.0					4																	36160997		2203	4300	6503	SO:0001583	missense	116984				regulation of ARF GTPase activity|small GTPase mediated signal transduction	cytosol	ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|zinc ion binding	g.chr4:36160997C>A	AF411982	CCDS3441.1	4p15.1	2013-01-11	2008-09-22	2008-09-22	ENSG00000047365	ENSG00000047365		"""ADP-ribosylation factor GTPase activating proteins"", ""Sterile alpha motif (SAM) domain containing"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	16924	protein-coding gene	gene with protein product		606645	"""centaurin, delta 1"""	CENTD1			Standard	NM_015230		Approved	PARX	uc003gsq.2	Q8WZ64	OTTHUMG00000097811	ENST00000303965.4:c.2573G>T	4.37:g.36160997C>A	ENSP00000302895:p.Gly858Val						p.G858V	NM_015230	NP_056045	Q8WZ64	ARAP2_HUMAN			14	2911	-			858					Q4W5D2|Q7Z2L5|Q96L70|Q96P49|Q9Y4E4	Missense_Mutation	SNP	ENST00000303965.4	37	c.2573G>T	CCDS3441.1	.	.	.	.	.	.	.	.	.	.	C	24.5	4.536447	0.85812	.	.	ENSG00000047365	ENST00000303965	T	0.13901	2.55	6.08	6.08	0.98989	.	0.000000	0.85682	D	0.000000	T	0.39759	0.1090	M	0.66939	2.045	0.80722	D	1	D	0.89917	1.0	D	0.74674	0.984	T	0.02925	-1.1093	10	0.87932	D	0	.	20.6721	0.99693	0.0:1.0:0.0:0.0	.	858	Q8WZ64	ARAP2_HUMAN	V	858	ENSP00000302895:G858V	ENSP00000302895:G858V	G	-	2	0	ARAP2	35837392	1.000000	0.71417	0.930000	0.37139	0.589000	0.36550	5.625000	0.67770	2.894000	0.99253	0.591000	0.81541	GGG		PASS	0.468	ARAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215074.2	NM_015230		32	114	32	114	---	---	---	---
FRYL	285527	broad.mit.edu	37	4	48584729	48584729	+	Nonsense_Mutation	SNP	C	C	A			TCGA-66-2756-01A-01D-1522-08	TCGA-66-2756-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	472c95e6-eccb-4988-be16-fdace73b2ed8	ff4f5936-f847-42ad-aedf-6a6a7fff6002	g.chr4:48584729C>A	ENST00000503238.1	-	17	1770	c.1771G>T	c.(1771-1773)Gaa>Taa	p.E591*	FRYL_ENST00000264319.7_5'UTR|FRYL_ENST00000358350.4_Nonsense_Mutation_p.E591*|FRYL_ENST00000537810.1_Nonsense_Mutation_p.E591*|FRYL_ENST00000507711.1_Nonsense_Mutation_p.E591*|FRYL_ENST00000506685.1_Nonsense_Mutation_p.E297*			O94915	FRYL_HUMAN	FRY-like	591					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)			p.E591*(1)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(21)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	91						GCACGCAGTTCTTCATCCATA	0.368																																						uc003gyh.1																			1	Substitution - Nonsense(1)		lung(1)	skin(1)	1						c.(1771-1773)GAA>TAA		furry-like							94.0	89.0	90.0					4																	48584729		1858	4106	5964	SO:0001587	stop_gained	285527				regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding	g.chr4:48584729C>A	AL833170	CCDS43227.1	4p12	2011-08-03	2006-11-17	2005-11-24	ENSG00000075539	ENSG00000075539			29127	protein-coding gene	gene with protein product			"""KIAA0826"", ""furry homolog-like (Drosophila)"""	KIAA0826		10048485	Standard	NM_015030		Approved	DKFZp686E205	uc003gyh.1	O94915	OTTHUMG00000160608	ENST00000503238.1:c.1771G>T	4.37:g.48584729C>A	ENSP00000426064:p.Glu591*					FRYL_uc003gyk.2_Nonsense_Mutation_p.E591*	p.E591*	NM_015030	NP_055845	O94915	FRYL_HUMAN			20	2376	-			591					O95640|Q8WTZ5|Q9NT40	Nonsense_Mutation	SNP	ENST00000503238.1	37	c.1771G>T	CCDS43227.1	.	.	.	.	.	.	.	.	.	.	C	37	6.177242	0.97352	.	.	ENSG00000075539	ENST00000503238;ENST00000358350;ENST00000537810;ENST00000507711;ENST00000506685	.	.	.	5.63	5.63	0.86233	.	0.000000	0.85682	U	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.27082	T	0.32	.	20.0499	0.97621	0.0:1.0:0.0:0.0	.	.	.	.	X	591;591;591;591;297	.	ENSP00000351113:E591X	E	-	1	0	FRYL	48279486	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.445000	0.80570	2.798000	0.96311	0.655000	0.94253	GAA		PASS	0.368	FRYL-011	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000369265.2			30	118	30	118	---	---	---	---
NMU	10874	broad.mit.edu	37	4	56465343	56465343	+	Silent	SNP	C	C	T			TCGA-66-2756-01A-01D-1522-08	TCGA-66-2756-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	472c95e6-eccb-4988-be16-fdace73b2ed8	ff4f5936-f847-42ad-aedf-6a6a7fff6002	g.chr4:56465343C>T	ENST00000264218.3	-	9	600	c.495G>A	c.(493-495)cgG>cgA	p.R165R	NMU_ENST00000515325.1_5'UTR|NMU_ENST00000507338.1_Silent_p.R140R|NMU_ENST00000511469.1_Silent_p.R149R|NMU_ENST00000505262.1_Silent_p.R138R	NM_006681.2	NP_006672.1	P48645	NMU_HUMAN	neuromedin U	165					digestion (GO:0007586)|eating behavior (GO:0042755)|G-protein coupled receptor signaling pathway (GO:0007186)|gastric acid secretion (GO:0001696)|neuropeptide signaling pathway (GO:0007218)|photoperiodism (GO:0009648)|positive regulation of hormone secretion (GO:0046887)|positive regulation of smooth muscle contraction (GO:0045987)|positive regulation of synaptic transmission (GO:0050806)|regulation of smooth muscle contraction (GO:0006940)|sensory perception of pain (GO:0019233)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|terminal bouton (GO:0043195)	receptor binding (GO:0005102)	p.R165R(1)		lung(3)|ovary(1)|urinary_tract(1)	5	Lung NSC(11;0.00256)|all_epithelial(27;0.075)|Glioma(25;0.08)|all_neural(26;0.101)	all_hematologic(202;0.103)	LUSC - Lung squamous cell carcinoma(4;6.72e-08)|Lung(4;6.22e-07)|Epithelial(7;0.00559)	LUSC - Lung squamous cell carcinoma(721;0.0115)		TTCTTCCATTCCGTGGCTGAA	0.303																																						uc003hbc.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(493-495)CGG>CGA		neuromedin U precursor							49.0	50.0	49.0					4																	56465343		2203	4300	6503	SO:0001819	synonymous_variant	10874				neuropeptide signaling pathway	extracellular region		g.chr4:56465343C>T	X76029	CCDS3501.1, CCDS75125.1	4q12	2013-02-26			ENSG00000109255	ENSG00000109255		"""Endogenous ligands"""	7859	protein-coding gene	gene with protein product	"""prepro-NMU"""	605103				7619205	Standard	XM_005265713		Approved		uc003hbc.3	P48645	OTTHUMG00000102161	ENST00000264218.3:c.495G>A	4.37:g.56465343C>T						NMU_uc003hbd.1_RNA|NMU_uc010igv.1_RNA|NMU_uc010igw.1_Silent_p.R80R|NMU_uc010igx.1_RNA	p.R165R	NM_006681	NP_006672	P48645	NMU_HUMAN	LUSC - Lung squamous cell carcinoma(4;6.72e-08)|Lung(4;6.22e-07)|Epithelial(7;0.00559)	LUSC - Lung squamous cell carcinoma(721;0.0115)	9	601	-	Lung NSC(11;0.00256)|all_epithelial(27;0.075)|Glioma(25;0.08)|all_neural(26;0.101)	all_hematologic(202;0.103)	165						Silent	SNP	ENST00000264218.3	37	c.495G>A	CCDS3501.1																																																																																				PASS	0.303	NMU-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000220006.2			4	33	4	33	---	---	---	---
KIAA1211	57482	broad.mit.edu	37	4	57181602	57181602	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2756-01A-01D-1522-08	TCGA-66-2756-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	472c95e6-eccb-4988-be16-fdace73b2ed8	ff4f5936-f847-42ad-aedf-6a6a7fff6002	g.chr4:57181602C>T	ENST00000504228.1	+	6	2039	c.1934C>T	c.(1933-1935)gCg>gTg	p.A645V	KIAA1211_ENST00000541073.1_Missense_Mutation_p.A638V|KIAA1211_ENST00000264229.6_Missense_Mutation_p.A645V			Q6ZU35	K1211_HUMAN	KIAA1211	645								p.A645V(1)		endometrium(7)|large_intestine(10)|lung(39)|ovary(2)|prostate(3)|skin(3)|stomach(1)	65	Glioma(25;0.08)|all_neural(26;0.101)					CCCGGCGACGCGAGGGCGGGC	0.667																																						uc003hbk.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(1933-1935)GCG>GTG		hypothetical protein LOC57482							13.0	17.0	16.0					4																	57181602		1868	4041	5909	SO:0001583	missense	57482							g.chr4:57181602C>T	AB033037	CCDS43230.1	4q12	2012-08-03			ENSG00000109265	ENSG00000109265			29219	protein-coding gene	gene with protein product						10574462, 11230166	Standard	NM_020722		Approved		uc003hbk.2	Q6ZU35	OTTHUMG00000160749	ENST00000504228.1:c.1934C>T	4.37:g.57181602C>T	ENSP00000423366:p.Ala645Val					KIAA1211_uc010iha.2_Missense_Mutation_p.A638V|KIAA1211_uc011bzz.1_Missense_Mutation_p.A555V|KIAA1211_uc003hbm.1_Missense_Mutation_p.A531V	p.A645V	NM_020722	NP_065773	Q6ZU35	K1211_HUMAN			8	2325	+	Glioma(25;0.08)|all_neural(26;0.101)		645					Q9NTE2|Q9NTP8|Q9ULK9	Missense_Mutation	SNP	ENST00000504228.1	37	c.1934C>T	CCDS43230.1	.	.	.	.	.	.	.	.	.	.	C	12.49	1.954414	0.34471	.	.	ENSG00000109265	ENST00000264229;ENST00000504228;ENST00000541073;ENST00000546221	T;T;T	0.02085	4.46;4.46;4.46	5.01	2.16	0.27623	.	.	.	.	.	T	0.01800	0.0057	L	0.29908	0.895	0.09310	N	1	P;P;P	0.38745	0.645;0.645;0.625	B;B;B	0.28305	0.044;0.044;0.088	T	0.49234	-0.8961	9	0.66056	D	0.02	-2.3757	7.7939	0.29135	0.0:0.7175:0.1331:0.1493	.	638;638;645	B7ZVZ4;F5H1N7;Q6ZU35	.;.;K1211_HUMAN	V	645;645;638;555	ENSP00000264229:A645V;ENSP00000423366:A645V;ENSP00000444006:A638V	ENSP00000264229:A645V	A	+	2	0	KIAA1211	56876359	0.293000	0.24371	0.013000	0.15412	0.073000	0.16967	2.320000	0.43797	0.515000	0.28320	0.561000	0.74099	GCG		PASS	0.667	KIAA1211-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362097.2	NM_020722		6	11	6	11	---	---	---	---
LPHN3	23284	broad.mit.edu	37	4	62812663	62812663	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2756-01A-01D-1522-08	TCGA-66-2756-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	472c95e6-eccb-4988-be16-fdace73b2ed8	ff4f5936-f847-42ad-aedf-6a6a7fff6002	g.chr4:62812663C>A	ENST00000514591.1	+	15	2576	c.2247C>A	c.(2245-2247)aaC>aaA	p.N749K	LPHN3_ENST00000514996.1_Missense_Mutation_p.N749K|LPHN3_ENST00000545650.1_Missense_Mutation_p.N749K|LPHN3_ENST00000508078.1_3'UTR|LPHN3_ENST00000514157.1_Missense_Mutation_p.N749K|LPHN3_ENST00000506746.1_Missense_Mutation_p.N817K|LPHN3_ENST00000509896.1_Missense_Mutation_p.N817K|LPHN3_ENST00000507164.1_Missense_Mutation_p.N817K|LPHN3_ENST00000508946.1_Missense_Mutation_p.N749K|LPHN3_ENST00000504896.1_Missense_Mutation_p.N749K|LPHN3_ENST00000511324.1_Missense_Mutation_p.N817K|LPHN3_ENST00000506700.1_Missense_Mutation_p.N749K|LPHN3_ENST00000508693.1_Missense_Mutation_p.N817K|LPHN3_ENST00000512091.2_Missense_Mutation_p.N749K|LPHN3_ENST00000507625.1_Missense_Mutation_p.N817K|LPHN3_ENST00000506720.1_Missense_Mutation_p.N817K			Q9HAR2	LPHN3_HUMAN	latrophilin 3	736					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|G-protein coupled receptor activity (GO:0004930)	p.N749K(3)		breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(21)|lung(73)|ovary(1)|pancreas(1)|prostate(6)|upper_aerodigestive_tract(1)	125						TCCTGTATAACAACTTGGGTC	0.373																																						uc010ihh.2																			3	Substitution - Missense(3)		lung(3)	lung(15)|ovary(1)|central_nervous_system(1)|pancreas(1)	18						c.(2245-2247)AAC>AAA		latrophilin 3 precursor							254.0	237.0	243.0					4																	62812663		1874	4117	5991	SO:0001583	missense	23284				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|sugar binding	g.chr4:62812663C>A	AB018311	CCDS54768.1	4q13.1	2014-08-08				ENSG00000150471		"""-"", ""GPCR / Class B : Orphans"""	20974	protein-coding gene	gene with protein product						10994649	Standard	NM_015236		Approved	KIAA0768, LEC3	uc010ihh.3	Q9HAR2		ENST00000514591.1:c.2247C>A	4.37:g.62812663C>A	ENSP00000422533:p.Asn749Lys					LPHN3_uc003hcq.3_Missense_Mutation_p.N749K|LPHN3_uc003hct.2_Missense_Mutation_p.N142K	p.N749K	NM_015236	NP_056051	Q9HAR2	LPHN3_HUMAN			13	2420	+			736			Extracellular (Potential).		E9PE04|O94867|Q9NWK5	Missense_Mutation	SNP	ENST00000514591.1	37	c.2247C>A	CCDS54768.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	4.170|4.170	0.030125|0.030125	0.08101|0.08101	.|.	.|.	ENSG00000150471|ENSG00000150471	ENST00000512091;ENST00000514591;ENST00000509896;ENST00000511324;ENST00000506700;ENST00000545650;ENST00000295349;ENST00000280009;ENST00000507164;ENST00000508693;ENST00000507625;ENST00000514157;ENST00000504896;ENST00000508946;ENST00000506720;ENST00000506746;ENST00000514996|ENST00000502815	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T|.	0.06768|.	3.26;3.26;3.26;3.26;3.26;3.26;3.26;3.26;3.26;3.26;3.26;3.26;3.26;3.26;3.26|.	5.51|5.51	0.748|0.748	0.18376|0.18376	Domain of unknown function DUF3497 (1);|.	0.098054|.	0.64402|.	D|.	0.000002|.	T|T	0.13415|0.13415	0.0325|0.0325	N|N	0.00771|0.00771	-1.2|-1.2	0.38384|0.38384	D|D	0.945217|0.945217	B;B;B|.	0.09022|.	0.001;0.002;0.002|.	B;B;B|.	0.10450|.	0.005;0.005;0.004|.	T|T	0.10590|0.10590	-1.0623|-1.0623	10|5	0.20519|.	T|.	0.43|.	.|.	5.644|5.644	0.17579|0.17579	0.12:0.5446:0.0:0.3354|0.12:0.5446:0.0:0.3354	.|.	749;736;749|.	E9PE04;Q9HAR2;Q9HAR2-2|.	.;LPHN3_HUMAN;.|.	K|K	749;749;817;817;749;749;736;749;817;817;817;749;749;749;817;817;749|207	ENSP00000423388:N749K;ENSP00000422533:N749K;ENSP00000423787:N817K;ENSP00000425033:N817K;ENSP00000424120:N749K;ENSP00000439831:N749K;ENSP00000421476:N817K;ENSP00000424030:N817K;ENSP00000421372:N817K;ENSP00000425201:N749K;ENSP00000423434:N749K;ENSP00000421627:N749K;ENSP00000420931:N817K;ENSP00000425884:N817K;ENSP00000424258:N749K|.	ENSP00000280009:N749K|.	N|Q	+|+	3|1	2|0	LPHN3|LPHN3	62495258|62495258	0.792000|0.792000	0.28813|0.28813	0.998000|0.998000	0.56505|0.56505	0.889000|0.889000	0.51656|0.51656	-0.033000|-0.033000	0.12246|0.12246	0.019000|0.019000	0.15079|0.15079	-0.252000|-0.252000	0.11476|0.11476	AAC|CAA		PASS	0.373	LPHN3-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000361765.1			59	202	59	202	---	---	---	---
TECRL	253017	broad.mit.edu	37	4	65175635	65175635	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2756-01A-01D-1522-08	TCGA-66-2756-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	472c95e6-eccb-4988-be16-fdace73b2ed8	ff4f5936-f847-42ad-aedf-6a6a7fff6002	g.chr4:65175635C>A	ENST00000381210.3	-	6	676	c.566G>T	c.(565-567)tGt>tTt	p.C189F	TECRL_ENST00000513125.1_5'UTR|TECRL_ENST00000507440.1_Missense_Mutation_p.C189F	NM_001010874.4	NP_001010874.2	Q5HYJ1	TECRL_HUMAN	trans-2,3-enoyl-CoA reductase-like	189					lipid metabolic process (GO:0006629)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)	oxidoreductase activity, acting on the CH-CH group of donors (GO:0016627)	p.C189F(1)		endometrium(2)|kidney(5)|large_intestine(7)|lung(30)|prostate(1)|skin(1)|stomach(1)	47						TATACAATGACAGAAGCAAGC	0.333																																						uc003hcv.2																			1	Substitution - Missense(1)		lung(1)		0						c.(565-567)TGT>TTT		steroid 5 alpha-reductase 2-like 2							78.0	82.0	81.0					4																	65175635		2203	4300	6503	SO:0001583	missense	253017				lipid metabolic process	cytoplasm|integral to membrane	oxidoreductase activity, acting on the CH-CH group of donors	g.chr4:65175635C>A	AL833108	CCDS33990.1	4q13.1	2009-07-21			ENSG00000205678	ENSG00000205678			27365	protein-coding gene	gene with protein product	"""glycoprotein, synaptic 2-like"""					12477932	Standard	NM_001010874		Approved	GPSN2L, SRD5A2L2, DKFZp313D0829, DKFZp313B2333, TERL	uc003hcv.3	Q5HYJ1	OTTHUMG00000160680	ENST00000381210.3:c.566G>T	4.37:g.65175635C>A	ENSP00000370607:p.Cys189Phe					TECRL_uc003hcw.2_Missense_Mutation_p.C189F	p.C189F	NM_001010874	NP_001010874	Q5HYJ1	TECRL_HUMAN			6	675	-			189						Missense_Mutation	SNP	ENST00000381210.3	37	c.566G>T	CCDS33990.1	.	.	.	.	.	.	.	.	.	.	C	12.08	1.830958	0.32329	.	.	ENSG00000205678	ENST00000507440;ENST00000381210	T;T	0.46819	0.86;0.86	5.11	4.26	0.50523	.	0.053086	0.85682	N	0.000000	T	0.63510	0.2517	M	0.62723	1.935	0.51767	D	0.999938	D;D	0.76494	0.999;0.998	D;D	0.83275	0.996;0.941	T	0.63125	-0.6707	10	0.45353	T	0.12	-10.2461	11.9481	0.52940	0.1741:0.8259:0.0:0.0	.	189;189	Q6IN47;Q5HYJ1	.;TECRL_HUMAN	F	189	ENSP00000426043:C189F;ENSP00000370607:C189F	ENSP00000370607:C189F	C	-	2	0	TECRL	64858230	1.000000	0.71417	0.910000	0.35882	0.121000	0.20230	3.342000	0.52159	1.118000	0.41863	0.555000	0.69702	TGT		PASS	0.333	TECRL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361705.4	NM_001010874		39	55	39	55	---	---	---	---
UGT2B4	7363	broad.mit.edu	37	4	70351093	70351093	+	Silent	SNP	A	A	G			TCGA-66-2756-01A-01D-1522-08	TCGA-66-2756-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	472c95e6-eccb-4988-be16-fdace73b2ed8	ff4f5936-f847-42ad-aedf-6a6a7fff6002	g.chr4:70351093A>G	ENST00000305107.6	-	5	1189	c.1143T>C	c.(1141-1143)taT>taC	p.Y381Y	UGT2B4_ENST00000512583.1_Intron|UGT2B4_ENST00000381096.3_Silent_p.Y245Y|UGT2B4_ENST00000506580.1_Intron	NM_021139.2	NP_066962.2	P06133	UD2B4_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B4	381					cellular glucuronidation (GO:0052695)|estrogen catabolic process (GO:0006711)|metabolic process (GO:0008152)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	glucuronosyltransferase activity (GO:0015020)	p.Y381Y(1)		autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(29)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	47					Canagliflozin(DB08907)|Codeine(DB00318)|Dapagliflozin(DB06292)|Flurbiprofen(DB00712)|Ibuprofen(DB01050)|Morphine(DB00295)	AGATTGCCTCATAGATGCCAT	0.418																																						uc003hek.3																			1	Substitution - coding silent(1)		lung(1)	skin(2)	2						c.(1141-1143)TAT>TAC		UDP glucuronosyltransferase 2B4 precursor							143.0	144.0	144.0					4																	70351093		2203	4300	6503	SO:0001819	synonymous_variant	7363				estrogen catabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity	g.chr4:70351093A>G	BC026264	CCDS43234.1, CCDS75137.1	4q13	2008-02-05	2005-07-20			ENSG00000156096		"""UDP glucuronosyltransferases"""	12553	protein-coding gene	gene with protein product		600067	"""UDP glycosyltransferase 2 family, polypeptide B4"""			3109396, 7835904	Standard	NM_021139		Approved	UGT2B11	uc003hek.4	P06133		ENST00000305107.6:c.1143T>C	4.37:g.70351093A>G						UGT2B4_uc011cap.1_Silent_p.Y245Y|UGT2B4_uc003hel.3_Intron	p.Y381Y	NM_021139	NP_066962	P06133	UD2B4_HUMAN			5	1190	-			381					A6NCP7|B4DT75|G5E9X8|O60731|O60867|O75614|P36538|Q1HBF9|Q6QQX7	Silent	SNP	ENST00000305107.6	37	c.1143T>C	CCDS43234.1																																																																																				PASS	0.418	UGT2B4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365526.1	NM_021139		74	208	74	208	---	---	---	---
UGT2B4	7363	broad.mit.edu	37	4	70361501	70361501	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2756-01A-01D-1522-08	TCGA-66-2756-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	472c95e6-eccb-4988-be16-fdace73b2ed8	ff4f5936-f847-42ad-aedf-6a6a7fff6002	g.chr4:70361501G>T	ENST00000305107.6	-	1	125	c.79C>A	c.(79-81)Ctg>Atg	p.L27M	UGT2B4_ENST00000512583.1_Missense_Mutation_p.L27M|UGT2B4_ENST00000381096.3_Intron|UGT2B4_ENST00000506580.1_5'UTR	NM_021139.2	NP_066962.2	P06133	UD2B4_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B4	27					cellular glucuronidation (GO:0052695)|estrogen catabolic process (GO:0006711)|metabolic process (GO:0008152)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	glucuronosyltransferase activity (GO:0015020)	p.L27M(1)		autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(29)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	47					Canagliflozin(DB08907)|Codeine(DB00318)|Dapagliflozin(DB06292)|Flurbiprofen(DB00712)|Ibuprofen(DB01050)|Morphine(DB00295)	GGCCACACCAGCACCTTTCCA	0.463																																						uc003hek.3																			1	Substitution - Missense(1)		lung(1)	skin(2)	2						c.(79-81)CTG>ATG		UDP glucuronosyltransferase 2B4 precursor							153.0	153.0	153.0					4																	70361501		2203	4300	6503	SO:0001583	missense	7363				estrogen catabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity	g.chr4:70361501G>T	BC026264	CCDS43234.1, CCDS75137.1	4q13	2008-02-05	2005-07-20			ENSG00000156096		"""UDP glucuronosyltransferases"""	12553	protein-coding gene	gene with protein product		600067	"""UDP glycosyltransferase 2 family, polypeptide B4"""			3109396, 7835904	Standard	NM_021139		Approved	UGT2B11	uc003hek.4	P06133		ENST00000305107.6:c.79C>A	4.37:g.70361501G>T	ENSP00000305221:p.Leu27Met					UGT2B4_uc011cap.1_Intron|UGT2B4_uc003hel.3_Missense_Mutation_p.L27M	p.L27M	NM_021139	NP_066962	P06133	UD2B4_HUMAN			1	126	-			27					A6NCP7|B4DT75|G5E9X8|O60731|O60867|O75614|P36538|Q1HBF9|Q6QQX7	Missense_Mutation	SNP	ENST00000305107.6	37	c.79C>A	CCDS43234.1	.	.	.	.	.	.	.	.	.	.	G	8.097	0.775763	0.16051	.	.	ENSG00000156096	ENST00000512583;ENST00000305107;ENST00000510114	T;T;T	0.72282	-0.64;-0.64;-0.64	2.41	0.511	0.16989	.	0.149444	0.26075	U	0.026481	D	0.86029	0.5835	H	0.97186	3.955	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.97110	0.981;1.0	T	0.82438	-0.0457	10	0.87932	D	0	.	5.8145	0.18486	0.3141:0.0:0.6859:0.0	.	27;27	G5E9X8;P06133	.;UD2B4_HUMAN	M	27	ENSP00000421290:L27M;ENSP00000305221:L27M;ENSP00000421113:L27M	ENSP00000305221:L27M	L	-	1	2	UGT2B4	70396090	0.003000	0.15002	0.983000	0.44433	0.019000	0.09904	-0.083000	0.11286	-0.048000	0.13401	-0.699000	0.03677	CTG		PASS	0.463	UGT2B4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365526.1	NM_021139		47	184	47	184	---	---	---	---
CDKL2	8999	broad.mit.edu	37	4	76522207	76522207	+	Missense_Mutation	SNP	T	T	C			TCGA-66-2756-01A-01D-1522-08	TCGA-66-2756-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	472c95e6-eccb-4988-be16-fdace73b2ed8	ff4f5936-f847-42ad-aedf-6a6a7fff6002	g.chr4:76522207T>C	ENST00000429927.2	-	9	1937	c.1234A>G	c.(1234-1236)Att>Gtt	p.I412V	CDKL2_ENST00000307465.4_Missense_Mutation_p.I412V	NM_003948.3	NP_003939.1	Q92772	CDKL2_HUMAN	cyclin-dependent kinase-like 2 (CDC2-related kinase)	412					sex differentiation (GO:0007548)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|protein kinase activity (GO:0004672)	p.I412V(1)		breast(3)|endometrium(1)|large_intestine(4)|lung(6)|ovary(2)|prostate(2)|skin(2)|stomach(2)	22			Lung(101;0.0973)|LUSC - Lung squamous cell carcinoma(112;0.122)			AGTGGGGGAATTGCCACGCTT	0.463																																						uc003hiq.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|stomach(2)|breast(2)|skin(1)	7						c.(1234-1236)ATT>GTT		cyclin-dependent kinase-like 2							256.0	227.0	237.0					4																	76522207		2203	4300	6503	SO:0001583	missense	8999				sex differentiation|signal transduction	cytoplasm|nucleus	ATP binding|cyclin-dependent protein kinase activity	g.chr4:76522207T>C	U35146	CCDS3570.1	4q21.21	2011-11-04			ENSG00000138769	ENSG00000138769		"""Cyclin-dependent kinases"""	1782	protein-coding gene	gene with protein product		603442				9000130	Standard	NM_003948		Approved	P56, KKIAMRE	uc003hiq.3	Q92772	OTTHUMG00000130103	ENST00000429927.2:c.1234A>G	4.37:g.76522207T>C	ENSP00000412365:p.Ile412Val					CDKL2_uc011cbp.1_Missense_Mutation_p.I412V	p.I412V	NM_003948	NP_003939	Q92772	CDKL2_HUMAN	Lung(101;0.0973)|LUSC - Lung squamous cell carcinoma(112;0.122)		9	1759	-			412					B2R695	Missense_Mutation	SNP	ENST00000429927.2	37	c.1234A>G	CCDS3570.1	.	.	.	.	.	.	.	.	.	.	T	11.91	1.778203	0.31502	.	.	ENSG00000138769	ENST00000429927;ENST00000307465	T;T	0.73363	1.01;-0.74	4.74	3.54	0.40534	.	.	.	.	.	T	0.76821	0.4041	L	0.34521	1.04	0.25215	N	0.989948	D;D	0.64830	0.994;0.979	D;P	0.72625	0.978;0.625	T	0.63959	-0.6519	9	0.44086	T	0.13	-14.8481	8.24	0.31654	0.0:0.0933:0.0:0.9067	.	412;412	B4DH08;Q92772	.;CDKL2_HUMAN	V	412	ENSP00000412365:I412V;ENSP00000306340:I412V	ENSP00000306340:I412V	I	-	1	0	CDKL2	76741231	0.997000	0.39634	0.682000	0.30024	0.019000	0.09904	4.090000	0.57693	0.821000	0.34540	0.482000	0.46254	ATT		PASS	0.463	CDKL2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000252409.2	NM_003948		108	133	108	133	---	---	---	---
PPEF2	5470	broad.mit.edu	37	4	76811182	76811182	+	Silent	SNP	C	C	A	rs201158555		TCGA-66-2756-01A-01D-1522-08	TCGA-66-2756-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	472c95e6-eccb-4988-be16-fdace73b2ed8	ff4f5936-f847-42ad-aedf-6a6a7fff6002	g.chr4:76811182C>A	ENST00000286719.7	-	5	701	c.345G>T	c.(343-345)acG>acT	p.T115T	PPEF2_ENST00000510607.1_5'Flank	NM_006239.2	NP_006230.2	O14830	PPE2_HUMAN	protein phosphatase, EF-hand calcium binding domain 2	115					detection of stimulus involved in sensory perception (GO:0050906)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of peptidyl-threonine phosphorylation (GO:0010801)|protein dephosphorylation (GO:0006470)|regulation of JUN kinase activity (GO:0043506)|regulation of MAP kinase activity (GO:0043405)|visual perception (GO:0007601)	cilium (GO:0005929)|cytoplasm (GO:0005737)	calcium ion binding (GO:0005509)|Hsp70 protein binding (GO:0030544)|Hsp90 protein binding (GO:0051879)|iron ion binding (GO:0005506)|manganese ion binding (GO:0030145)|mitogen-activated protein kinase kinase kinase binding (GO:0031435)|protein serine/threonine phosphatase activity (GO:0004722)	p.T115T(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(25)|ovary(2)|pancreas(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	50			Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)			GGCGTGGCCCCGTGTAACTGT	0.537																																					NSCLC(105;1359 1603 15961 44567 47947)	uc003hix.2																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|lung(1)|central_nervous_system(1)	4						c.(343-345)ACG>ACT		serine/threonine protein phosphatase with							247.0	215.0	226.0					4																	76811182		2203	4300	6503	SO:0001819	synonymous_variant	5470				detection of stimulus involved in sensory perception|negative regulation of MAPKKK cascade|negative regulation of peptidyl-threonine phosphorylation|protein dephosphorylation|visual perception	cytoplasm|photoreceptor inner segment|photoreceptor outer segment	calcium ion binding|Hsp70 protein binding|Hsp90 protein binding|iron ion binding|manganese ion binding|mitogen-activated protein kinase kinase kinase binding|protein serine/threonine phosphatase activity	g.chr4:76811182C>A	AF023456	CCDS34013.1	4q21.1	2013-01-10			ENSG00000156194	ENSG00000156194		"""Serine/threonine phosphatases / Protein phosphatase, catalytic subunits"", ""EF-hand domain containing"""	9244	protein-coding gene	gene with protein product	"""protein phosphatase 7, catalytic subunit, beta isozyme"""	602256				9326663, 12051765	Standard	NM_006239		Approved	PPP7CB	uc003hix.3	O14830	OTTHUMG00000160915	ENST00000286719.7:c.345G>T	4.37:g.76811182C>A						PPEF2_uc003hiy.2_RNA|PPEF2_uc003hiz.1_Silent_p.T115T	p.T115T	NM_006239	NP_006230	O14830	PPE2_HUMAN	Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)		5	702	-			115					O14831	Silent	SNP	ENST00000286719.7	37	c.345G>T	CCDS34013.1																																																																																				PASS	0.537	PPEF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362929.1	NM_006239		63	143	63	143	---	---	---	---
FGF5	2250	broad.mit.edu	37	4	81207620	81207620	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2756-01A-01D-1522-08	TCGA-66-2756-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	472c95e6-eccb-4988-be16-fdace73b2ed8	ff4f5936-f847-42ad-aedf-6a6a7fff6002	g.chr4:81207620G>T	ENST00000312465.7	+	3	827	c.601G>T	c.(601-603)Ggg>Tgg	p.G201W	FGF5_ENST00000503413.1_3'UTR|FGF5_ENST00000456523.3_3'UTR	NM_004464.3	NP_004455.2	P12034	FGF5_HUMAN	fibroblast growth factor 5	201					cell proliferation (GO:0008283)|cell-cell signaling (GO:0007267)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glial cell differentiation (GO:0010001)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|nervous system development (GO:0007399)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell division (GO:0051781)|positive regulation of cell proliferation (GO:0008284)|signal transduction involved in regulation of gene expression (GO:0023019)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	fibroblast growth factor receptor binding (GO:0005104)	p.G201W(1)		breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	22						AGCCAAACGAGGGTGCAGCCC	0.468																																						uc003hmd.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|breast(1)	2						c.(601-603)GGG>TGG		fibroblast growth factor 5 isoform 1 precursor							79.0	87.0	85.0					4																	81207620		2203	4300	6503	SO:0001583	missense	2250				cell proliferation|cell-cell signaling|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|positive regulation of cell division|positive regulation of cell proliferation	extracellular space	fibroblast growth factor receptor binding|growth factor activity	g.chr4:81207620G>T	M23534	CCDS3586.1, CCDS34021.1	4q21	2014-01-30			ENSG00000138675	ENSG00000138675		"""Endogenous ligands"""	3683	protein-coding gene	gene with protein product		165190				3211147, 2577873	Standard	NM_001291812		Approved		uc003hmd.3	P12034	OTTHUMG00000130288	ENST00000312465.7:c.601G>T	4.37:g.81207620G>T	ENSP00000311697:p.Gly201Trp					FGF5_uc003hme.2_3'UTR	p.G201W	NM_004464	NP_004455	P12034	FGF5_HUMAN			3	838	+			201					B2R554|O75846|Q3Y8M3|Q8NF90	Missense_Mutation	SNP	ENST00000312465.7	37	c.601G>T	CCDS34021.1	.	.	.	.	.	.	.	.	.	.	G	21.5	4.161620	0.78226	.	.	ENSG00000138675	ENST00000312465	D	0.85013	-1.93	5.82	5.82	0.92795	.	0.000000	0.85682	D	0.000000	D	0.94644	0.8273	M	0.93062	3.375	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.95136	0.8259	10	0.87932	D	0	.	20.0851	0.97797	0.0:0.0:1.0:0.0	.	201	P12034	FGF5_HUMAN	W	201	ENSP00000311697:G201W	ENSP00000311697:G201W	G	+	1	0	FGF5	81426644	1.000000	0.71417	0.967000	0.41034	0.497000	0.33675	9.800000	0.99124	2.758000	0.94735	0.650000	0.86243	GGG		PASS	0.468	FGF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252627.2			71	93	71	93	---	---	---	---
RASGEF1B	153020	broad.mit.edu	37	4	82369222	82369223	+	Splice_Site	DNP	CC	CC	AA			TCGA-66-2756-01A-01D-1522-08	TCGA-66-2756-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	472c95e6-eccb-4988-be16-fdace73b2ed8	ff4f5936-f847-42ad-aedf-6a6a7fff6002	g.chr4:82369222_82369223CC>AA	ENST00000264400.2	-	5	805_806	c.654_655GG>TT	c.(652-657)ctGGag>ctTTag	p.E219*	RASGEF1B_ENST00000335927.7_Splice_Site_p.E177*|RASGEF1B_ENST00000509081.1_Splice_Site_p.E218*	NM_152545.1	NP_689758.1	Q0VAM2	RGF1B_HUMAN	RasGEF domain family, member 1B	219	Ras-GEF. {ECO:0000255|PROSITE- ProRule:PRU00168}.				positive regulation of Ras GTPase activity (GO:0032320)|small GTPase mediated signal transduction (GO:0007264)	endosome (GO:0005768)	Ras guanyl-nucleotide exchange factor activity (GO:0005088)	p.?(2)|p.L218L(1)		endometrium(2)|kidney(5)|large_intestine(4)|lung(13)|prostate(1)|skin(1)	26						AACGGCCTTACCAGCTCTATAT	0.46																																						uc003hmi.1																			3	Unknown(2)|Substitution - coding silent(1)		lung(3)		0						c.e5+1|c.(652-654)CTG>CTT		RasGEF domain family, member 1B																																				SO:0001630	splice_region_variant	153020				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	intracellular	Ras guanyl-nucleotide exchange factor activity	g.chr4:82369222C>A|g.chr4:82369223C>A	AK056257	CCDS34022.1, CCDS75151.1, CCDS75152.1	4q21.21	2013-09-24				ENSG00000138670			24881	protein-coding gene	gene with protein product		614532				12488504	Standard	XM_005262776		Approved	GPIG4, FLJ31695	uc003hmi.1	Q0VAM2		ENST00000264400.2:c.654_655delinsAA	4.37:g.82369222_82369223delinsAA						RASGEF1B_uc003hmj.1_Splice_Site_p.L217_splice|RASGEF1B_uc010ijq.1_Splice_Site_p.L176_splice|RASGEF1B_uc003hmj.1_Silent_p.L217L|RASGEF1B_uc010ijq.1_Silent_p.L176L	p.L218_splice|p.L218L	NM_152545	NP_689758	Q0VAM2	RGF1B_HUMAN			5	798	-			|218			|Ras-GEF.		Q0VAM1|Q4W5L7|Q4W5M3|Q96MY8	Splice_Site|Silent	SNP	ENST00000264400.2	37	c.654_splice|c.654G>T	CCDS34022.1																																																																																				PASS	0.460	RASGEF1B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000362830.1	NM_152545	Nonsense_Mutation	59	56	59	56	---	---	---	---
ENOPH1	58478	broad.mit.edu	37	4	83369094	83369094	+	Missense_Mutation	SNP	G	G	C	rs374821138		TCGA-66-2756-01A-01D-1522-08	TCGA-66-2756-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	472c95e6-eccb-4988-be16-fdace73b2ed8	ff4f5936-f847-42ad-aedf-6a6a7fff6002	g.chr4:83369094G>C	ENST00000273920.3	+	2	374	c.106G>C	c.(106-108)Gaa>Caa	p.E36Q	ENOPH1_ENST00000509635.1_5'UTR	NM_021204.3	NP_067027.1			enolase-phosphatase 1									p.E36K(1)|p.E36Q(1)		central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(3)|skin(1)	13						TCCTTACATCGAAGAAAATGT	0.368																																						uc003hmv.2																			2	Substitution - Missense(2)		large_intestine(1)|lung(1)		0						c.(106-108)GAA>CAA		enolase-phosphatase 1							78.0	76.0	77.0					4																	83369094		2203	4300	6503	SO:0001583	missense	58478				L-methionine salvage from methylthioadenosine	cytoplasm|nucleus	2,3-diketo-5-methylthiopentyl-1-phosphate enolase activity|2-hydroxy-3-keto-5-methylthiopentenyl-1-phosphate phosphatase activity|acireductone synthase activity|magnesium ion binding|phosphoglycolate phosphatase activity	g.chr4:83369094G>C		CCDS3594.1, CCDS75154.1	4q21.3	2013-05-29			ENSG00000145293	ENSG00000145293	3.1.3.77		24599	protein-coding gene	gene with protein product	"""Enolase-phosphatase E1"", ""acireductone synthase"""					15843022	Standard	XM_005263168		Approved	MASA, E1, mtnC	uc003hmv.3	Q9UHY7	OTTHUMG00000130295	ENST00000273920.3:c.106G>C	4.37:g.83369094G>C	ENSP00000273920:p.Glu36Gln					ENOPH1_uc003hmw.2_5'UTR|ENOPH1_uc003hmx.2_5'UTR	p.E36Q	NM_021204	NP_067027	Q9UHY7	ENOPH_HUMAN			2	363	+			36						Missense_Mutation	SNP	ENST00000273920.3	37	c.106G>C	CCDS3594.1	.	.	.	.	.	.	.	.	.	.	g	8.965	0.971578	0.18736	.	.	ENSG00000145293	ENST00000273920;ENST00000456931	T	0.05513	3.43	5.62	0.0525	0.14302	Haloacid dehalogenase-like hydrolase (1);HAD-like domain (1);2,3-diketo-5-methylthio-1-phosphopentane phosphatase (1);	0.229809	0.48286	D	0.000190	T	0.03178	0.0093	N	0.14661	0.345	0.80722	D	1	B	0.06786	0.001	B	0.06405	0.002	T	0.48581	-0.9023	10	0.29301	T	0.29	-3.2829	6.4836	0.22077	0.6221:0.2423:0.1356:0.0	.	36	Q9UHY7	ENOPH_HUMAN	Q	36	ENSP00000273920:E36Q	ENSP00000273920:E36Q	E	+	1	0	ENOPH1	83588118	1.000000	0.71417	0.997000	0.53966	0.128000	0.20619	3.333000	0.52090	0.154000	0.19237	-1.078000	0.02229	GAA		PASS	0.368	ENOPH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252638.2	NM_021204		20	22	20	22	---	---	---	---
PTPN13	5783	broad.mit.edu	37	4	87671973	87671973	+	Nonsense_Mutation	SNP	G	G	T			TCGA-66-2756-01A-01D-1522-08	TCGA-66-2756-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	472c95e6-eccb-4988-be16-fdace73b2ed8	ff4f5936-f847-42ad-aedf-6a6a7fff6002	g.chr4:87671973G>T	ENST00000411767.2	+	18	3064	c.3001G>T	c.(3001-3003)Gga>Tga	p.G1001*	PTPN13_ENST00000436978.1_Nonsense_Mutation_p.G1001*|PTPN13_ENST00000316707.6_Intron|PTPN13_ENST00000511467.1_Nonsense_Mutation_p.G1001*|PTPN13_ENST00000427191.2_Nonsense_Mutation_p.G1001*			Q12923	PTN13_HUMAN	protein tyrosine phosphatase, non-receptor type 13 (APO-1/CD95 (Fas)-associated phosphatase)	1001					peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	cell body (GO:0044297)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|lamellipodium (GO:0030027)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein tyrosine phosphatase activity (GO:0004725)	p.G1001*(1)		NS(4)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(23)|lung(24)|ovary(4)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	93		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.00082)		AGAGTTGGTGGGAAAACCTTC	0.398																																						uc003hpz.2																			1	Substitution - Nonsense(1)		lung(1)	ovary(4)|breast(1)|kidney(1)	6						c.(3001-3003)GGA>TGA		protein tyrosine phosphatase, non-receptor type							51.0	48.0	49.0					4																	87671973		1866	4095	5961	SO:0001587	stop_gained	5783					cytoplasm|cytoskeleton|plasma membrane	protein binding|protein binding|protein tyrosine phosphatase activity	g.chr4:87671973G>T		CCDS47093.1, CCDS47094.1, CCDS47095.1, CCDS47096.1	4q21.3	2011-06-09			ENSG00000163629	ENSG00000163629		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"""	9646	protein-coding gene	gene with protein product		600267				8287977	Standard	NM_006264		Approved	PTP1E, PTP-BAS, PTPL1, PTP-BL	uc003hpy.3	Q12923	OTTHUMG00000160968	ENST00000411767.2:c.3001G>T	4.37:g.87671973G>T	ENSP00000407249:p.Gly1001*					PTPN13_uc003hpy.2_Nonsense_Mutation_p.G1001*|PTPN13_uc003hqa.2_Nonsense_Mutation_p.G1001*|PTPN13_uc003hqb.2_Intron	p.G1001*	NM_080683	NP_542414	Q12923	PTN13_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.00082)	18	3481	+		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)	1001					B2RTR0|Q15159|Q15263|Q15264|Q15265|Q15674|Q16826|Q8IWH7|Q9NYN9|Q9UDA8	Nonsense_Mutation	SNP	ENST00000411767.2	37	c.3001G>T	CCDS47094.1	.	.	.	.	.	.	.	.	.	.	G	45	11.825196	0.99607	.	.	ENSG00000163629	ENST00000427191;ENST00000436978;ENST00000411767;ENST00000511467;ENST00000357349	.	.	.	6.16	6.16	0.99307	.	0.000000	0.50627	D	0.000118	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.62326	D	0.03	.	13.9788	0.64291	0.0686:0.0:0.9314:0.0	.	.	.	.	X	1001;1001;1001;1001;969	.	ENSP00000349909:G969X	G	+	1	0	PTPN13	87890997	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	5.133000	0.64764	2.937000	0.99478	0.650000	0.86243	GGA		PASS	0.398	PTPN13-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000363191.1			13	29	13	29	---	---	---	---
PDLIM5	10611	broad.mit.edu	37	4	95583637	95583637	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2756-01A-01D-1522-08	TCGA-66-2756-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	472c95e6-eccb-4988-be16-fdace73b2ed8	ff4f5936-f847-42ad-aedf-6a6a7fff6002	g.chr4:95583637G>T	ENST00000317968.4	+	12	1786	c.1650G>T	c.(1648-1650)atG>atT	p.M550I	PDLIM5_ENST00000542407.1_Missense_Mutation_p.M428I|PDLIM5_ENST00000437932.1_Missense_Mutation_p.M441I|PDLIM5_ENST00000514743.1_Missense_Mutation_p.M579I|PDLIM5_ENST00000380176.3_3'UTR	NM_001256428.1|NM_006457.4	NP_001243357.1|NP_006448	Q96HC4	PDLI5_HUMAN	PDZ and LIM domain 5	550	LIM zinc-binding 3. {ECO:0000255|PROSITE- ProRule:PRU00125}.				regulation of dendritic spine morphogenesis (GO:0061001)|regulation of synapse assembly (GO:0051963)	actin cytoskeleton (GO:0015629)|cell junction (GO:0030054)|cytosol (GO:0005829)|membrane (GO:0016020)|neuron projection (GO:0043005)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	actin binding (GO:0003779)|actinin binding (GO:0042805)|protein kinase C binding (GO:0005080)|zinc ion binding (GO:0008270)	p.M550I(1)		central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(3)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	22		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;1.84e-09)		CTGGTGACATGTTCCTGGAAG	0.413																																						uc003hti.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(1648-1650)ATG>ATT		PDZ and LIM domain 5 isoform a							160.0	154.0	156.0					4																	95583637		2203	4300	6503	SO:0001583	missense	10611				regulation of dendritic spine morphogenesis|regulation of synaptogenesis	actin cytoskeleton|cell junction|cytosol|postsynaptic density|postsynaptic membrane|synaptosome	actin binding|actinin binding|protein kinase C binding|zinc ion binding	g.chr4:95583637G>T	AF061258	CCDS3641.1, CCDS47103.1, CCDS47104.1, CCDS58915.1, CCDS58916.1, CCDS58917.1, CCDS75166.1	4q22	2006-04-12			ENSG00000163110	ENSG00000163110			17468	protein-coding gene	gene with protein product		605904				15346770	Standard	NM_006457		Approved	LIM, Enh	uc003htk.4	Q96HC4	OTTHUMG00000130973	ENST00000317968.4:c.1650G>T	4.37:g.95583637G>T	ENSP00000321746:p.Met550Ile					PDLIM5_uc011cdx.1_Missense_Mutation_p.M447I|PDLIM5_uc003hth.2_Missense_Mutation_p.M441I|PDLIM5_uc003htj.2_Missense_Mutation_p.M225I|PDLIM5_uc003htk.2_Missense_Mutation_p.M579I|PDLIM5_uc011cdy.1_Missense_Mutation_p.M428I|PDLIM5_uc003htl.2_Missense_Mutation_p.M225I	p.M550I	NM_006457	NP_006448	Q96HC4	PDLI5_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;1.84e-09)	12	1801	+		Hepatocellular(203;0.114)	550			LIM zinc-binding 3.		A8K6F9|D6RB78|E9PBF5|O60705|Q56VN4|Q5UW38|Q8WVK0	Missense_Mutation	SNP	ENST00000317968.4	37	c.1650G>T	CCDS3641.1	.	.	.	.	.	.	.	.	.	.	G	20.8	4.055368	0.75960	.	.	ENSG00000163110	ENST00000437932;ENST00000317968;ENST00000503974;ENST00000542407;ENST00000514743	D;D;D;D;D	0.86562	-2.14;-2.14;-2.14;-2.14;-2.14	5.93	5.93	0.95920	Zinc finger, LIM-type (5);	0.246208	0.47093	D	0.000256	D	0.83261	0.5216	N	0.17082	0.46	0.43564	D	0.995881	B;P;B;B	0.35656	0.053;0.514;0.156;0.039	B;B;B;B	0.40329	0.1;0.326;0.216;0.038	D	0.83608	0.0132	10	0.66056	D	0.02	.	20.3539	0.98825	0.0:0.0:1.0:0.0	.	447;579;550;441	E9PBF5;D6RB78;Q96HC4;Q96HC4-4	.;.;PDLI5_HUMAN;.	I	441;550;447;428;579	ENSP00000398469:M441I;ENSP00000321746:M550I;ENSP00000424297:M447I;ENSP00000442187:M428I;ENSP00000424360:M579I	ENSP00000321746:M550I	M	+	3	0	PDLIM5	95802660	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.905000	0.48727	2.826000	0.97356	0.655000	0.94253	ATG		PASS	0.413	PDLIM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253586.1			72	89	72	89	---	---	---	---
MTTP	4547	broad.mit.edu	37	4	100542253	100542253	+	Missense_Mutation	SNP	A	A	T			TCGA-66-2756-01A-01D-1522-08	TCGA-66-2756-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	472c95e6-eccb-4988-be16-fdace73b2ed8	ff4f5936-f847-42ad-aedf-6a6a7fff6002	g.chr4:100542253A>T	ENST00000265517.5	+	17	2581	c.2378A>T	c.(2377-2379)gAc>gTc	p.D793V	MTTP_ENST00000457717.1_Missense_Mutation_p.D793V|MTTP_ENST00000511045.1_Missense_Mutation_p.D820V|RP11-766F14.1_ENST00000508578.1_RNA			P55157	MTP_HUMAN	microsomal triglyceride transfer protein	793					cholesterol homeostasis (GO:0042632)|lipid metabolic process (GO:0006629)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|protein lipidation (GO:0006497)|response to calcium ion (GO:0051592)|small molecule metabolic process (GO:0044281)|triglyceride metabolic process (GO:0006641)	basolateral plasma membrane (GO:0016323)|brush border membrane (GO:0031526)|endoplasmic reticulum lumen (GO:0005788)|Golgi apparatus (GO:0005794)|membrane-bounded vesicle (GO:0031988)|microvillus membrane (GO:0031528)|receptor complex (GO:0043235)|rough endoplasmic reticulum (GO:0005791)	lipid binding (GO:0008289)|lipid transporter activity (GO:0005319)	p.D793V(1)		breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(14)|lung(19)|ovary(4)|prostate(5)|skin(1)|urinary_tract(1)	57				OV - Ovarian serous cystadenocarcinoma(123;6.04e-09)	Hesperetin(DB01094)|Lomitapide(DB08827)	ATCACAGTGGACTCCTCTTTT	0.388																																						uc003hvc.3																			1	Substitution - Missense(1)		lung(1)	ovary(3)|central_nervous_system(1)	4						c.(2377-2379)GAC>GTC		microsomal triglyceride transfer protein large	Hesperetin(DB01094)						97.0	93.0	95.0					4																	100542253		2203	4300	6503	SO:0001583	missense	4547				lipid metabolic process|lipoprotein metabolic process	endoplasmic reticulum lumen	lipid binding|lipid transporter activity	g.chr4:100542253A>T		CCDS3651.1, CCDS75169.1	4q24	2008-02-05	2005-11-04	2005-11-04	ENSG00000138823	ENSG00000138823			7467	protein-coding gene	gene with protein product		157147	"""microsomal triglyceride transfer protein (large polypeptide, 88kD)"", ""microsomal triglyceride transfer protein (large polypeptide, 88kDa)"""	MTP		8111381	Standard	XM_005263025		Approved	ABL	uc003hvc.4	P55157	OTTHUMG00000131023	ENST00000265517.5:c.2378A>T	4.37:g.100542253A>T	ENSP00000265517:p.Asp793Val					MTTP_uc011cej.1_Missense_Mutation_p.D820V	p.D793V	NM_000253	NP_000244	P55157	MTP_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;6.04e-09)	18	2634	+			793					A8K428|Q08AM4|Q6P5T3	Missense_Mutation	SNP	ENST00000265517.5	37	c.2378A>T	CCDS3651.1	.	.	.	.	.	.	.	.	.	.	A	23.2	4.390492	0.82902	.	.	ENSG00000138823	ENST00000511045;ENST00000457717;ENST00000265517	T;T;T	0.64618	-0.11;-0.1;-0.1	5.56	5.56	0.83823	.	0.000000	0.85682	D	0.000000	T	0.78489	0.4291	M	0.72894	2.215	0.80722	D	1	D;D	0.89917	0.968;1.0	P;D	0.87578	0.721;0.998	T	0.81147	-0.1065	10	0.87932	D	0	-15.8199	15.7012	0.77544	1.0:0.0:0.0:0.0	.	820;793	E9PBP6;P55157	.;MTP_HUMAN	V	820;793;793	ENSP00000427679:D820V;ENSP00000400821:D793V;ENSP00000265517:D793V	ENSP00000265517:D793V	D	+	2	0	MTTP	100761276	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	8.697000	0.91307	2.107000	0.64212	0.533000	0.62120	GAC		PASS	0.388	MTTP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253662.3			62	70	62	70	---	---	---	---
CFI	3426	broad.mit.edu	37	4	110663664	110663664	+	Missense_Mutation	SNP	T	T	G			TCGA-66-2756-01A-01D-1522-08	TCGA-66-2756-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	472c95e6-eccb-4988-be16-fdace73b2ed8	ff4f5936-f847-42ad-aedf-6a6a7fff6002	g.chr4:110663664T>G	ENST00000394634.2	-	12	1724	c.1517A>C	c.(1516-1518)aAa>aCa	p.K506T	CFI_ENST00000512148.1_Missense_Mutation_p.K499T|CFI_ENST00000394635.3_Missense_Mutation_p.K514T	NM_000204.3	NP_000195	P05156	CFAI_HUMAN	complement factor I	506	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				complement activation, classical pathway (GO:0006958)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	metal ion binding (GO:0046872)|scavenger receptor activity (GO:0005044)|serine-type endopeptidase activity (GO:0004252)	p.K506T(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|skin(2)|stomach(1)	27		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000331)		TTCCATTTCTTTTTCATAGAA	0.393																																						uc003hzr.3																			1	Substitution - Missense(1)		lung(1)		0						c.(1516-1518)AAA>ACA		complement factor I preproprotein							116.0	107.0	110.0					4																	110663664		2203	4299	6502	SO:0001583	missense	3426				complement activation, classical pathway|innate immune response|proteolysis	extracellular space|membrane	scavenger receptor activity|serine-type endopeptidase activity	g.chr4:110663664T>G	J02770	CCDS34049.1	4q25	2014-09-17	2006-02-10	2006-02-10		ENSG00000205403	3.4.21.45	"""Complement system"""	5394	protein-coding gene	gene with protein product	"""Konglutinogen-activating factor"", ""C3b-inactivator"""	217030	"""I factor (complement)"""	IF		2956252	Standard	NM_000204		Approved	FI, C3b-INA, KAF	uc003hzr.4	P05156		ENST00000394634.2:c.1517A>C	4.37:g.110663664T>G	ENSP00000378130:p.Lys506Thr					CFI_uc003hzq.2_Missense_Mutation_p.K303T|CFI_uc011cft.1_Missense_Mutation_p.K514T|CFI_uc003hzs.3_Missense_Mutation_p.K499T	p.K506T	NM_000204	NP_000195	P05156	CFAI_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000331)	12	1725	-		Hepatocellular(203;0.217)	506			Peptidase S1.		O60442	Missense_Mutation	SNP	ENST00000394634.2	37	c.1517A>C	CCDS34049.1	.	.	.	.	.	.	.	.	.	.	T	15.04	2.715389	0.48622	.	.	ENSG00000205403	ENST00000394635;ENST00000394634;ENST00000512148	D;D;D	0.92911	-3.13;-3.13;-3.13	4.78	3.57	0.40892	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.468899	0.24901	N	0.034698	D	0.89181	0.6642	N	0.12637	0.245	0.30577	N	0.762948	D;B;D	0.71674	0.998;0.196;0.998	D;B;D	0.69654	0.947;0.143;0.965	D	0.83966	0.0324	10	0.25106	T	0.35	-20.8701	7.7747	0.29030	0.1859:0.0:0.0:0.8141	.	514;499;506	E7ETH0;G3XAM2;P05156	.;.;CFAI_HUMAN	T	514;506;499	ENSP00000378131:K514T;ENSP00000378130:K506T;ENSP00000427438:K499T	ENSP00000378130:K506T	K	-	2	0	CFI	110883113	1.000000	0.71417	0.742000	0.31022	0.958000	0.62258	3.234000	0.51320	0.668000	0.31126	0.524000	0.50904	AAA		PASS	0.393	CFI-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		NM_000204		56	40	56	40	---	---	---	---
ENPEP	2028	broad.mit.edu	37	4	111482577	111482577	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2756-01A-01D-1522-08	TCGA-66-2756-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	472c95e6-eccb-4988-be16-fdace73b2ed8	ff4f5936-f847-42ad-aedf-6a6a7fff6002	g.chr4:111482577G>T	ENST00000265162.5	+	20	3079	c.2737G>T	c.(2737-2739)Gca>Tca	p.A913S	ENPEP_ENST00000504100.1_3'UTR	NM_001977.3	NP_001968.3	Q07075	AMPE_HUMAN	glutamyl aminopeptidase (aminopeptidase A)	913					angiogenesis (GO:0001525)|angiotensin catabolic process in blood (GO:0002005)|angiotensin maturation (GO:0002003)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cell-cell signaling (GO:0007267)|cellular protein metabolic process (GO:0044267)|glomerulus development (GO:0032835)|regulation of systemic arterial blood pressure by renin-angiotensin (GO:0003081)	apical part of cell (GO:0045177)|apical plasma membrane (GO:0016324)|brush border (GO:0005903)|cytoplasmic vesicle (GO:0031410)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	aminopeptidase activity (GO:0004177)|metalloaminopeptidase activity (GO:0070006)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.A913S(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(22)|ovary(1)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(1)	54		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.0031)		GAGCTTTTTTGCAAAATATCC	0.363																																						uc003iab.3																			1	Substitution - Missense(1)		lung(1)	skin(3)|ovary(1)|breast(1)	5						c.(2737-2739)GCA>TCA		glutamyl aminopeptidase	L-Glutamic Acid(DB00142)						67.0	67.0	67.0					4																	111482577		2203	4300	6503	SO:0001583	missense	2028				cell migration|cell proliferation|cell-cell signaling|proteolysis	integral to plasma membrane	aminopeptidase activity|metalloexopeptidase activity|zinc ion binding	g.chr4:111482577G>T	L12468	CCDS3691.1	4q25	2008-02-05			ENSG00000138792	ENSG00000138792	3.4.11.7	"""CD molecules"""	3355	protein-coding gene	gene with protein product		138297				9268642	Standard	NM_001977		Approved	gp160, CD249	uc003iab.4	Q07075	OTTHUMG00000132546	ENST00000265162.5:c.2737G>T	4.37:g.111482577G>T	ENSP00000265162:p.Ala913Ser						p.A913S	NM_001977	NP_001968	Q07075	AMPE_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.0031)	20	3079	+		Hepatocellular(203;0.217)	913			Extracellular (Potential).		Q504U2	Missense_Mutation	SNP	ENST00000265162.5	37	c.2737G>T	CCDS3691.1	.	.	.	.	.	.	.	.	.	.	G	14.06	2.421656	0.43020	.	.	ENSG00000138792	ENST00000265162	T	0.05925	3.37	5.14	0.117	0.14652	.	1.195440	0.05551	N	0.567555	T	0.07818	0.0196	L	0.47016	1.485	0.29214	N	0.874375	B	0.21520	0.057	B	0.24848	0.056	T	0.47873	-0.9083	10	0.13108	T	0.6	.	11.2949	0.49272	0.3206:0.0:0.6794:0.0	.	913	Q07075	AMPE_HUMAN	S	913	ENSP00000265162:A913S	ENSP00000265162:A913S	A	+	1	0	ENPEP	111702026	0.015000	0.18098	0.686000	0.30086	0.995000	0.86356	0.981000	0.29526	0.128000	0.18479	0.655000	0.94253	GCA		PASS	0.363	ENPEP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255747.2			15	34	15	34	---	---	---	---
PRSS12	8492	broad.mit.edu	37	4	119219991	119219991	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2756-01A-01D-1522-08	TCGA-66-2756-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	472c95e6-eccb-4988-be16-fdace73b2ed8	ff4f5936-f847-42ad-aedf-6a6a7fff6002	g.chr4:119219991G>T	ENST00000296498.3	-	9	2016	c.1734C>A	c.(1732-1734)gaC>gaA	p.D578E	PRSS12_ENST00000510903.1_5'Flank	NM_003619.3	NP_003610.2	P56730	NETR_HUMAN	protease, serine, 12 (neurotrypsin, motopsin)	578	SRCR 4. {ECO:0000255|PROSITE- ProRule:PRU00196}.				exocytosis (GO:0006887)|zymogen activation (GO:0031638)	axon (GO:0030424)|cytoplasmic vesicle (GO:0031410)|dendrite (GO:0030425)|extracellular region (GO:0005576)|plasma membrane (GO:0005886)|synaptic cleft (GO:0043083)|terminal bouton (GO:0043195)	scavenger receptor activity (GO:0005044)|serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)	p.D578E(1)		endometrium(3)|kidney(1)|large_intestine(9)|lung(11)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	29						GCTTGATACAGTCAGCCAAGG	0.453																																						uc003ica.1																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(1732-1734)GAC>GAA		neurotrypsin precursor							175.0	157.0	163.0					4																	119219991		2203	4300	6503	SO:0001583	missense	8492					membrane	scavenger receptor activity	g.chr4:119219991G>T	AJ001531	CCDS3709.1	4q25-q26	2010-05-07			ENSG00000164099	ENSG00000164099		"""Serine peptidases / Serine peptidases"""	9477	protein-coding gene	gene with protein product		606709				9540828, 9245503	Standard	NM_003619		Approved	BSSP-3, MRT1	uc003ica.2	P56730	OTTHUMG00000161166	ENST00000296498.3:c.1734C>A	4.37:g.119219991G>T	ENSP00000296498:p.Asp578Glu						p.D578E	NM_003619	NP_003610	P56730	NETR_HUMAN			9	1781	-			578			SRCR 4.		Q9UP16	Missense_Mutation	SNP	ENST00000296498.3	37	c.1734C>A	CCDS3709.1	.	.	.	.	.	.	.	.	.	.	G	13.72	2.320323	0.41096	.	.	ENSG00000164099	ENST00000296498	T	0.24908	1.83	5.55	4.7	0.59300	Speract/scavenger receptor (2);Speract/scavenger receptor-related (2);	0.085411	0.85682	D	0.000000	T	0.12732	0.0309	N	0.03281	-0.365	0.43688	D	0.996131	P	0.38863	0.65	P	0.45610	0.487	T	0.17319	-1.0373	10	0.10902	T	0.67	.	7.0149	0.24883	0.1404:0.0:0.7193:0.1403	.	578	P56730	NETR_HUMAN	E	578	ENSP00000296498:D578E	ENSP00000296498:D578E	D	-	3	2	PRSS12	119439439	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.314000	0.43743	2.621000	0.88768	0.591000	0.81541	GAC		PASS	0.453	PRSS12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256516.2			58	67	58	67	---	---	---	---
PRDM5	11107	broad.mit.edu	37	4	121774680	121774680	+	Nonsense_Mutation	SNP	C	C	A			TCGA-66-2756-01A-01D-1522-08	TCGA-66-2756-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	472c95e6-eccb-4988-be16-fdace73b2ed8	ff4f5936-f847-42ad-aedf-6a6a7fff6002	g.chr4:121774680C>A	ENST00000264808.3	-	3	433	c.193G>T	c.(193-195)Gga>Tga	p.G65*	PRDM5_ENST00000515109.1_Nonsense_Mutation_p.G65*|PRDM5_ENST00000428209.2_Nonsense_Mutation_p.G65*|PRDM5_ENST00000394435.2_Nonsense_Mutation_p.G65*	NM_018699.2	NP_061169.2	Q9NQX1	PRDM5_HUMAN	PR domain containing 5	65	SET. {ECO:0000255|PROSITE- ProRule:PRU00190}.				histone deacetylation (GO:0016575)|histone H3-K9 methylation (GO:0051567)|mitotic cell cycle (GO:0000278)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|methyltransferase activity (GO:0008168)|repressing transcription factor binding (GO:0070491)|sequence-specific DNA binding (GO:0043565)|transcription regulatory region DNA binding (GO:0044212)|transcription regulatory region sequence-specific DNA binding (GO:0000976)	p.G65*(1)		central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(17)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						AAAACTTCTCCCTTACTCCCA	0.448																																						uc003idn.2																			1	Substitution - Nonsense(1)		lung(1)	central_nervous_system(1)|pancreas(1)	2						c.(193-195)GGA>TGA		PR domain containing 5							244.0	240.0	241.0					4																	121774680		2203	4300	6503	SO:0001587	stop_gained	11107				histone deacetylation|histone H3-K9 methylation|mitotic cell cycle|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	repressing transcription factor binding|sequence-specific DNA binding|transcription regulatory region DNA binding|zinc ion binding	g.chr4:121774680C>A	AF272897	CCDS3716.1, CCDS75187.1, CCDS75188.1	4q25-q26	2013-01-08			ENSG00000138738	ENSG00000138738		"""Zinc fingers, C2H2-type"""	9349	protein-coding gene	gene with protein product		614161					Standard	XM_005262706		Approved	PFM2	uc003idn.3	Q9NQX1	OTTHUMG00000132970	ENST00000264808.3:c.193G>T	4.37:g.121774680C>A	ENSP00000264808:p.Gly65*					PRDM5_uc003ido.2_Nonsense_Mutation_p.G65*|PRDM5_uc010ine.2_Nonsense_Mutation_p.G65*|PRDM5_uc010inf.2_Nonsense_Mutation_p.G65*|PRDM5_uc003idp.1_Nonsense_Mutation_p.G65*	p.G65*	NM_018699	NP_061169	Q9NQX1	PRDM5_HUMAN			3	443	-			65			SET.		Q0VAI9|Q0VAJ0|Q6NXQ7	Nonsense_Mutation	SNP	ENST00000264808.3	37	c.193G>T	CCDS3716.1	.	.	.	.	.	.	.	.	.	.	C	39	7.753753	0.98471	.	.	ENSG00000138738	ENST00000264808;ENST00000515109;ENST00000428209;ENST00000394435	.	.	.	5.72	5.72	0.89469	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	-24.328	19.011	0.92872	0.0:1.0:0.0:0.0	.	.	.	.	X	65	.	ENSP00000264808:G65X	G	-	1	0	PRDM5	121994130	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.998000	0.76277	2.857000	0.98124	0.650000	0.86243	GGA		PASS	0.448	PRDM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256528.2			97	238	97	238	---	---	---	---
FAT4	79633	broad.mit.edu	37	4	126242174	126242174	+	Silent	SNP	T	T	A			TCGA-66-2756-01A-01D-1522-08	TCGA-66-2756-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	472c95e6-eccb-4988-be16-fdace73b2ed8	ff4f5936-f847-42ad-aedf-6a6a7fff6002	g.chr4:126242174T>A	ENST00000394329.3	+	1	4621	c.4608T>A	c.(4606-4608)gcT>gcA	p.A1536A		NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	1536	Cadherin 15. {ECO:0000255|PROSITE- ProRule:PRU00043}.				branching involved in ureteric bud morphogenesis (GO:0001658)|cerebral cortex development (GO:0021987)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|inner ear receptor stereocilium organization (GO:0060122)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|plasma membrane organization (GO:0007009)|regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072307)	apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.A1536A(2)		NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						ACGCCCTTGCTGCAGACCCAT	0.428																																						uc003ifj.3																			2	Substitution - coding silent(2)		lung(2)	ovary(9)|skin(5)|upper_aerodigestive_tract(2)|pancreas(2)	18						c.(4606-4608)GCT>GCA		FAT tumor suppressor homolog 4 precursor							158.0	145.0	149.0					4																	126242174		1952	4157	6109	SO:0001819	synonymous_variant	79633				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:126242174T>A	AY356402	CCDS3732.3	4q28.1	2013-05-31	2013-05-31		ENSG00000196159	ENSG00000196159		"""Cadherins / Cadherin-related"""	23109	protein-coding gene	gene with protein product	"""cadherin-related family member 11"""	612411	"""FAT tumor suppressor homolog 4 (Drosophila)"""			15003449	Standard	NM_024582		Approved	CDHF14, FAT-J, CDHR11	uc003ifj.4	Q6V0I7	OTTHUMG00000133100	ENST00000394329.3:c.4608T>A	4.37:g.126242174T>A							p.A1536A	NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN			1	4608	+			1536			Cadherin 15.|Extracellular (Potential).		A8K5Z6|B5MDG4|Q3LIA6|Q8TCK7|Q9H5T6	Silent	SNP	ENST00000394329.3	37	c.4608T>A	CCDS3732.3																																																																																				PASS	0.428	FAT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256765.2	NM_024582		56	205	56	205	---	---	---	---
FAT4	79633	broad.mit.edu	37	4	126369706	126369706	+	Missense_Mutation	SNP	A	A	T			TCGA-66-2756-01A-01D-1522-08	TCGA-66-2756-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	472c95e6-eccb-4988-be16-fdace73b2ed8	ff4f5936-f847-42ad-aedf-6a6a7fff6002	g.chr4:126369706A>T	ENST00000394329.3	+	9	7548	c.7535A>T	c.(7534-7536)aAa>aTa	p.K2512I	FAT4_ENST00000335110.5_Missense_Mutation_p.K810I	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	2512	Cadherin 24. {ECO:0000255|PROSITE- ProRule:PRU00043}.				branching involved in ureteric bud morphogenesis (GO:0001658)|cerebral cortex development (GO:0021987)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|inner ear receptor stereocilium organization (GO:0060122)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|plasma membrane organization (GO:0007009)|regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072307)	apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.K2512I(2)		NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						AATTCTGAAAAATTTCACATT	0.428																																						uc003ifj.3																			2	Substitution - Missense(2)		lung(2)	ovary(9)|skin(5)|upper_aerodigestive_tract(2)|pancreas(2)	18						c.(7534-7536)AAA>ATA		FAT tumor suppressor homolog 4 precursor							63.0	66.0	65.0					4																	126369706		2203	4299	6502	SO:0001583	missense	79633				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:126369706A>T	AY356402	CCDS3732.3	4q28.1	2013-05-31	2013-05-31		ENSG00000196159	ENSG00000196159		"""Cadherins / Cadherin-related"""	23109	protein-coding gene	gene with protein product	"""cadherin-related family member 11"""	612411	"""FAT tumor suppressor homolog 4 (Drosophila)"""			15003449	Standard	NM_024582		Approved	CDHF14, FAT-J, CDHR11	uc003ifj.4	Q6V0I7	OTTHUMG00000133100	ENST00000394329.3:c.7535A>T	4.37:g.126369706A>T	ENSP00000377862:p.Lys2512Ile					FAT4_uc011cgp.1_Missense_Mutation_p.K810I|FAT4_uc003ifi.1_5'UTR	p.K2512I	NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN			9	7535	+			2512			Extracellular (Potential).|Cadherin 24.		A8K5Z6|B5MDG4|Q3LIA6|Q8TCK7|Q9H5T6	Missense_Mutation	SNP	ENST00000394329.3	37	c.7535A>T	CCDS3732.3	.	.	.	.	.	.	.	.	.	.	A	18.48	3.632289	0.67015	.	.	ENSG00000196159	ENST00000394329;ENST00000335110	T;T	0.52754	0.65;0.65	5.92	4.76	0.60689	Cadherin (4);Cadherin-like (1);	0.000000	0.36482	U	0.002566	T	0.51517	0.1679	L	0.27053	0.805	0.50039	D	0.999845	D;D	0.89917	0.999;1.0	D;D	0.91635	0.982;0.999	T	0.40961	-0.9535	10	0.21540	T	0.41	.	11.4554	0.50179	0.9306:0.0:0.0694:0.0	.	810;2512	Q6V0I7-2;Q6V0I7	.;FAT4_HUMAN	I	2512;810	ENSP00000377862:K2512I;ENSP00000335169:K810I	ENSP00000335169:K810I	K	+	2	0	FAT4	126589156	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.408000	0.59761	2.277000	0.76020	0.528000	0.53228	AAA		PASS	0.428	FAT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256765.2	NM_024582		25	83	25	83	---	---	---	---
TRIM2	23321	broad.mit.edu	37	4	154197105	154197105	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2756-01A-01D-1522-08	TCGA-66-2756-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	472c95e6-eccb-4988-be16-fdace73b2ed8	ff4f5936-f847-42ad-aedf-6a6a7fff6002	g.chr4:154197105G>T	ENST00000437508.2	+	3	396	c.195G>T	c.(193-195)caG>caT	p.Q65H	TRIM2_ENST00000338700.5_Missense_Mutation_p.Q92H|TRIM2_ENST00000494872.1_3'UTR	NM_001130067.1	NP_001123539.1	Q9C040	TRIM2_HUMAN	tripartite motif containing 2	65					cell death (GO:0008219)|regulation of neuron apoptotic process (GO:0043523)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.Q92H(1)|p.Q65H(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|prostate(1)	19	all_hematologic(180;0.093)	Medulloblastoma(177;0.00225)		GBM - Glioblastoma multiforme(119;0.0102)|LUSC - Lung squamous cell carcinoma(193;0.0703)		TGTGCCGCCAGACCTCCATCC	0.577																																						uc003ing.2																			2	Substitution - Missense(2)		lung(2)	central_nervous_system(1)	1						c.(193-195)CAG>CAT		tripartite motif-containing 2 isoform 2							88.0	80.0	83.0					4																	154197105		2203	4300	6503	SO:0001583	missense	23321					cytoplasm	zinc ion binding	g.chr4:154197105G>T	AF220018	CCDS3781.2, CCDS47147.1	4q31.3	2013-01-09	2011-01-25		ENSG00000109654	ENSG00000109654		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	15974	protein-coding gene	gene with protein product		614141	"""tripartite motif-containing 2"""			9628581, 11331580	Standard	NM_015271		Approved	KIAA0517, RNF86	uc003inh.2	Q9C040	OTTHUMG00000155991	ENST00000437508.2:c.195G>T	4.37:g.154197105G>T	ENSP00000415812:p.Gln65His					TRIM2_uc003inh.2_Missense_Mutation_p.Q92H|TRIM2_uc003ini.1_Missense_Mutation_p.Q83H	p.Q65H	NM_001130067	NP_001123539	Q9C040	TRIM2_HUMAN		GBM - Glioblastoma multiforme(119;0.0102)|LUSC - Lung squamous cell carcinoma(193;0.0703)	3	396	+	all_hematologic(180;0.093)	Medulloblastoma(177;0.00225)	65					D3DP09|O60272|Q9BSI9|Q9UFZ1	Missense_Mutation	SNP	ENST00000437508.2	37	c.195G>T	CCDS47147.1	.	.	.	.	.	.	.	.	.	.	G	22.0	4.227935	0.79576	.	.	ENSG00000109654	ENST00000441616;ENST00000437508;ENST00000338700	T;T;T	0.70631	2.22;-0.47;-0.5	5.62	4.78	0.61160	Zinc finger, RING/FYVE/PHD-type (1);	0.000000	0.85682	D	0.000000	T	0.77239	0.4101	L	0.42686	1.345	0.80722	D	1	D;D;D	0.67145	0.996;0.996;0.996	D;D;D	0.81914	0.995;0.992;0.992	T	0.73560	-0.3944	10	0.22706	T	0.39	-0.0978	14.3923	0.66989	0.0708:0.0:0.9292:0.0	.	65;92;65	C9JVI3;D3DP09;Q9C040	.;.;TRIM2_HUMAN	H	65;65;92	ENSP00000400879:Q65H;ENSP00000415812:Q65H;ENSP00000339659:Q92H	ENSP00000339659:Q92H	Q	+	3	2	TRIM2	154416555	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.393000	0.73217	1.373000	0.46208	0.563000	0.77884	CAG		PASS	0.577	TRIM2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342652.1			15	87	15	87	---	---	---	---
DCHS2	54798	broad.mit.edu	37	4	155156620	155156620	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2756-01A-01D-1522-08	TCGA-66-2756-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	472c95e6-eccb-4988-be16-fdace73b2ed8	ff4f5936-f847-42ad-aedf-6a6a7fff6002	g.chr4:155156620C>T	ENST00000357232.4	-	25	7818	c.7819G>A	c.(7819-7821)Gtg>Atg	p.V2607M		NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2	2607					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.V2607M(1)		NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		ACAGGGACCACCTCGTTACTG	0.483																																						uc003inw.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|pancreas(1)	4						c.(7819-7821)GTG>ATG		dachsous 2 isoform 1							125.0	126.0	125.0					4																	155156620		2203	4300	6503	SO:0001583	missense	54798				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:155156620C>T	BC140919	CCDS3785.1, CCDS47150.1	4q32.1	2014-06-04	2013-10-04	2004-09-03		ENSG00000197410		"""Cadherins / Cadherin-related"""	23111	protein-coding gene	gene with protein product	"""cadherin-related family member 7"""	612486	"""cadherin-like 27"", ""dachsous 2 (Drosophila)"""	CDH27, PCDH23		15003449	Standard	NM_017639		Approved	CDHJ, FLJ20047, PCDHJ, CDHR7	uc003inw.2	Q6V1P9		ENST00000357232.4:c.7819G>A	4.37:g.155156620C>T	ENSP00000349768:p.Val2607Met						p.V2607M	NM_017639	NP_060109	Q6V1P9	PCD23_HUMAN		LUSC - Lung squamous cell carcinoma(193;0.107)	25	7819	-	all_hematologic(180;0.208)	Renal(120;0.0854)	2607					B2RU14|E9PC11|Q4W5P9|Q6ZS61|Q9NXU8	Missense_Mutation	SNP	ENST00000357232.4	37	c.7819G>A	CCDS3785.1	.	.	.	.	.	.	.	.	.	.	C	2.236	-0.374899	0.05034	.	.	ENSG00000197410	ENST00000357232	T	0.54279	0.58	5.82	-1.32	0.09201	.	1.398270	0.04344	N	0.354568	T	0.39911	0.1096	L	0.43152	1.355	0.09310	N	1	B	0.18863	0.031	B	0.11329	0.006	T	0.18147	-1.0346	10	0.35671	T	0.21	.	1.8774	0.03221	0.1473:0.1941:0.1464:0.5122	.	2607	Q6V1P9	PCD23_HUMAN	M	2607	ENSP00000349768:V2607M	ENSP00000349768:V2607M	V	-	1	0	DCHS2	155376070	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-0.917000	0.04025	0.023000	0.15187	0.467000	0.42956	GTG		PASS	0.483	DCHS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365281.2	NM_001142552		39	123	39	123	---	---	---	---
NPY2R	4887	broad.mit.edu	37	4	156135540	156135540	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2756-01A-01D-1522-08	TCGA-66-2756-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	472c95e6-eccb-4988-be16-fdace73b2ed8	ff4f5936-f847-42ad-aedf-6a6a7fff6002	g.chr4:156135540G>T	ENST00000329476.3	+	2	938	c.449G>T	c.(448-450)aGg>aTg	p.R150M	NPY2R_ENST00000506608.1_Missense_Mutation_p.R150M	NM_000910.2	NP_000901.1	P49146	NPY2R_HUMAN	neuropeptide Y receptor Y2	150					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|behavioral fear response (GO:0001662)|cardiac left ventricle morphogenesis (GO:0003214)|locomotory behavior (GO:0007626)|negative regulation of cAMP biosynthetic process (GO:0030818)|negative regulation of excitatory postsynaptic membrane potential (GO:0090394)|negative regulation of feeding behavior (GO:2000252)|negative regulation of neurological system process (GO:0031645)|negative regulation of secretion (GO:0051048)|negative regulation of synaptic transmission, glutamatergic (GO:0051967)|neuropeptide signaling pathway (GO:0007218)|nitric oxide mediated signal transduction (GO:0007263)|outflow tract morphogenesis (GO:0003151)|positive regulation of cell adhesion (GO:0045785)|positive regulation of circadian sleep/wake cycle, non-REM sleep (GO:0046010)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of dopamine secretion (GO:0033603)|positive regulation of peptide secretion (GO:0002793)|positive regulation of smooth muscle contraction (GO:0045987)|regulation of sensory perception of pain (GO:0051930)|secretion (GO:0046903)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium channel regulator activity (GO:0005246)|neuropeptide Y receptor activity (GO:0004983)|peptide YY receptor activity (GO:0001601)|receptor activity (GO:0004872)	p.R150M(1)		breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(17)|prostate(1)|skin(5)|urinary_tract(1)	36	all_hematologic(180;0.24)	Renal(120;0.0854)			Cysteamine(DB00847)	GACCGGCACAGGTGCATCGTC	0.562																																						uc003ioq.2																			1	Substitution - Missense(1)		lung(1)	lung(2)|skin(1)	3						c.(448-450)AGG>ATG		neuropeptide Y receptor Y2							56.0	51.0	53.0					4																	156135540		2203	4300	6503	SO:0001583	missense	4887				cardiac left ventricle morphogenesis|inhibition of adenylate cyclase activity by G-protein signaling pathway|locomotory behavior|outflow tract morphogenesis	integral to plasma membrane	calcium channel regulator activity	g.chr4:156135540G>T	U42766	CCDS3791.1	4q31	2012-08-08				ENSG00000185149		"""GPCR / Class A : Neuropeptide receptors : Y"""	7957	protein-coding gene	gene with protein product		162642				7559383	Standard	NM_000910		Approved		uc003ioq.3	P49146		ENST00000329476.3:c.449G>T	4.37:g.156135540G>T	ENSP00000332591:p.Arg150Met					NPY2R_uc003ior.2_Missense_Mutation_p.R150M	p.R150M	NM_000910	NP_000901	P49146	NPY2R_HUMAN			2	944	+	all_hematologic(180;0.24)	Renal(120;0.0854)	150			Cytoplasmic (Potential).		Q13281|Q13457|Q4W5G7|Q6AZZ6|Q9UE67	Missense_Mutation	SNP	ENST00000329476.3	37	c.449G>T	CCDS3791.1	.	.	.	.	.	.	.	.	.	.	G	14.47	2.545043	0.45280	.	.	ENSG00000185149	ENST00000329476;ENST00000506608	T;T	0.36878	1.23;1.23	5.74	4.9	0.64082	GPCR, rhodopsin-like superfamily (1);	0.049671	0.85682	D	0.000000	T	0.55178	0.1904	M	0.62016	1.91	0.53005	D	0.999968	D	0.89917	1.0	D	0.81914	0.995	T	0.52895	-0.8514	10	0.33940	T	0.23	.	13.5995	0.62011	0.074:0.0:0.926:0.0	.	150	P49146	NPY2R_HUMAN	M	150	ENSP00000332591:R150M;ENSP00000426366:R150M	ENSP00000332591:R150M	R	+	2	0	NPY2R	156354990	1.000000	0.71417	0.901000	0.35422	0.653000	0.38743	5.398000	0.66308	1.431000	0.47355	0.643000	0.83706	AGG		PASS	0.562	NPY2R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365128.1	NM_000910		34	26	34	26	---	---	---	---
FSTL5	56884	broad.mit.edu	37	4	162402218	162402218	+	Nonsense_Mutation	SNP	A	A	T			TCGA-66-2756-01A-01D-1522-08	TCGA-66-2756-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	472c95e6-eccb-4988-be16-fdace73b2ed8	ff4f5936-f847-42ad-aedf-6a6a7fff6002	g.chr4:162402218A>T	ENST00000306100.5	-	13	1998	c.1562T>A	c.(1561-1563)tTg>tAg	p.L521*	FSTL5_ENST00000379164.4_Nonsense_Mutation_p.L520*|FSTL5_ENST00000427802.2_Nonsense_Mutation_p.L511*|FSTL5_ENST00000536695.1_Nonsense_Mutation_p.L520*	NM_001128427.2|NM_020116.4	NP_001121899.1|NP_064501.2	Q8N475	FSTL5_HUMAN	follistatin-like 5	521						extracellular region (GO:0005576)	calcium ion binding (GO:0005509)	p.L521*(1)		central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(18)|lung(43)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	91	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.179)		GACTCTGTCCAAAGTTGGCTG	0.358																																						uc003iqh.2																			1	Substitution - Nonsense(1)		lung(1)	ovary(2)|pancreas(2)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)|skin(1)	8						c.(1561-1563)TTG>TAG		follistatin-like 5 isoform a							138.0	132.0	134.0					4																	162402218		2203	4300	6503	SO:0001587	stop_gained	56884					extracellular region	calcium ion binding	g.chr4:162402218A>T	BC036502	CCDS3802.1, CCDS47157.1, CCDS47158.1	4q32.3	2013-01-11			ENSG00000168843	ENSG00000168843		"""EF-hand domain containing"", ""Immunoglobulin superfamily / I-set domain containing"""	21386	protein-coding gene	gene with protein product						10574462, 15527507	Standard	NM_020116		Approved	DKFZp566D234, KIAA1263	uc003iqh.4	Q8N475	OTTHUMG00000161397	ENST00000306100.5:c.1562T>A	4.37:g.162402218A>T	ENSP00000305334:p.Leu521*					FSTL5_uc003iqi.2_Nonsense_Mutation_p.L520*|FSTL5_uc010iqv.2_Nonsense_Mutation_p.L511*	p.L521*	NM_020116	NP_064501	Q8N475	FSTL5_HUMAN		COAD - Colon adenocarcinoma(41;0.179)	13	1998	-	all_hematologic(180;0.24)		521					E9PCP6|Q9NSW7|Q9ULF7	Nonsense_Mutation	SNP	ENST00000306100.5	37	c.1562T>A	CCDS3802.1	.	.	.	.	.	.	.	.	.	.	A	41	8.565724	0.98866	.	.	ENSG00000168843	ENST00000306100;ENST00000379164;ENST00000427802;ENST00000536695	.	.	.	5.51	5.51	0.81932	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.15066	T	0.55	.	14.7971	0.69886	1.0:0.0:0.0:0.0	.	.	.	.	X	521;520;511;520	.	ENSP00000305334:L521X	L	-	2	0	FSTL5	162621668	1.000000	0.71417	0.977000	0.42913	0.573000	0.36030	8.682000	0.91232	2.075000	0.62263	0.528000	0.53228	TTG		PASS	0.358	FSTL5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000364773.2	NM_020116		53	206	53	206	---	---	---	---
ZDHHC11	79844	broad.mit.edu	37	5	801262	801262	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2756-01A-01D-1522-08	TCGA-66-2756-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	472c95e6-eccb-4988-be16-fdace73b2ed8	ff4f5936-f847-42ad-aedf-6a6a7fff6002	g.chr5:801262G>T	ENST00000283441.8	-	12	1582	c.1199C>A	c.(1198-1200)aCa>aAa	p.T400K	ZDHHC11_ENST00000503758.2_5'UTR|ZDHHC11_ENST00000424784.2_Missense_Mutation_p.T400K	NM_024786.2	NP_079062.1	Q9H8X9	ZDH11_HUMAN	zinc finger, DHHC-type containing 11	400						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	protein-cysteine S-palmitoyltransferase activity (GO:0019706)|zinc ion binding (GO:0008270)	p.T400K(2)		haematopoietic_and_lymphoid_tissue(1)|liver(1)|lung(10)|pancreas(1)|prostate(5)|skin(2)|urinary_tract(1)	21			Epithelial(17;0.000445)|all cancers(22;0.00176)|OV - Ovarian serous cystadenocarcinoma(19;0.00227)|Lung(60;0.0863)			CATGGGCTCTGTTGTTTCTTG	0.403																																						uc011cma.1																			2	Substitution - Missense(2)		lung(2)	skin(1)|pancreas(1)	2						c.(1198-1200)ACA>AAA		zinc finger, DHHC-type containing 11							139.0	103.0	115.0					5																	801262		2202	4294	6496	SO:0001583	missense	79844					integral to membrane	acyltransferase activity|zinc ion binding	g.chr5:801262G>T	AK023215	CCDS3857.1	5p15.2	2011-02-09			ENSG00000188818	ENSG00000188818		"""Zinc fingers, DHHC-type"""	19158	protein-coding gene	gene with protein product							Standard	NM_024786		Approved	ZNF399, FLJ13153	uc011cma.1	Q9H8X9	OTTHUMG00000090319	ENST00000283441.8:c.1199C>A	5.37:g.801262G>T	ENSP00000283441:p.Thr400Lys					ZDHHC11_uc010itc.2_RNA|ZDHHC11_uc003jbj.2_RNA	p.T400K	NM_024786	NP_079062	Q9H8X9	ZDH11_HUMAN	Epithelial(17;0.000445)|all cancers(22;0.00176)|OV - Ovarian serous cystadenocarcinoma(19;0.00227)|Lung(60;0.0863)		12	1583	-			400					Q6UWR9	Missense_Mutation	SNP	ENST00000283441.8	37	c.1199C>A	CCDS3857.1	.	.	.	.	.	.	.	.	.	.	N	5.330	0.246253	0.10130	.	.	ENSG00000188818	ENST00000424784;ENST00000283441	T;T	0.40476	1.03;1.03	1.57	-3.15	0.05233	.	.	.	.	.	T	0.16085	0.0387	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.22556	-1.0213	9	0.10377	T	0.69	-15.6232	4.5662	0.12187	0.0:0.2584:0.1807:0.5609	.	400	Q9H8X9	ZDH11_HUMAN	K	400	ENSP00000397719:T400K;ENSP00000283441:T400K	ENSP00000283441:T400K	T	-	2	0	ZDHHC11	854262	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-2.833000	0.00742	-1.834000	0.01193	-0.940000	0.02684	ACA		PASS	0.403	ZDHHC11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206681.3	NM_024786		31	358	31	358	---	---	---	---
TAS2R1	50834	broad.mit.edu	37	5	9629530	9629530	+	Silent	SNP	G	G	A			TCGA-66-2756-01A-01D-1522-08	TCGA-66-2756-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	472c95e6-eccb-4988-be16-fdace73b2ed8	ff4f5936-f847-42ad-aedf-6a6a7fff6002	g.chr5:9629530G>A	ENST00000382492.2	-	1	933	c.615C>T	c.(613-615)acC>acT	p.T205T	CTD-2001E22.1_ENST00000504182.2_RNA	NM_019599.2	NP_062545.1	Q9NYW7	TA2R1_HUMAN	taste receptor, type 2, member 1	205					chemosensory behavior (GO:0007635)|detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)|G-protein coupled receptor signaling pathway (GO:0007186)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	bitter taste receptor activity (GO:0033038)|taste receptor activity (GO:0008527)	p.T205T(1)		breast(5)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(19)|ovary(3)|prostate(1)|skin(1)|stomach(1)	39						TCATTTGCCGGGTGTGCCTCC	0.502																																						uc003jem.1																			1	Substitution - coding silent(1)		lung(1)	ovary(3)	3						c.(613-615)ACC>ACT		taste receptor T2R1							48.0	56.0	53.0					5																	9629530		2203	4300	6503	SO:0001819	synonymous_variant	50834				chemosensory behavior|sensory perception of taste	integral to membrane	taste receptor activity	g.chr5:9629530G>A	AF227129	CCDS3876.1	5p15	2012-08-22			ENSG00000169777	ENSG00000169777		"""Taste receptors / Type 2"", ""GPCR / Unclassified : Taste receptors"""	14909	protein-coding gene	gene with protein product		604796				10761934, 10766242	Standard	NM_019599		Approved	T2R1, TRB7	uc003jem.1	Q9NYW7	OTTHUMG00000090500	ENST00000382492.2:c.615C>T	5.37:g.9629530G>A							p.T205T	NM_019599	NP_062545	Q9NYW7	TA2R1_HUMAN			1	934	-			205			Cytoplasmic (Potential).		Q646G8	Silent	SNP	ENST00000382492.2	37	c.615C>T	CCDS3876.1																																																																																				PASS	0.502	TAS2R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206988.2			5	171	5	171	---	---	---	---
MARCH6	10299	broad.mit.edu	37	5	10414598	10414598	+	Silent	SNP	C	C	T			TCGA-66-2756-01A-01D-1522-08	TCGA-66-2756-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	472c95e6-eccb-4988-be16-fdace73b2ed8	ff4f5936-f847-42ad-aedf-6a6a7fff6002	g.chr5:10414598C>T	ENST00000274140.5	+	20	2082	c.1950C>T	c.(1948-1950)atC>atT	p.I650I	MARCH6_ENST00000510792.1_Silent_p.I348I|MARCH6_ENST00000503788.1_Silent_p.I545I|MARCH6_ENST00000449913.2_Silent_p.I602I	NM_005885.3	NP_005876.2	O60337	MARH6_HUMAN	membrane-associated ring finger (C3HC4) 6, E3 ubiquitin protein ligase	650					protein K48-linked ubiquitination (GO:0070936)	integral component of endoplasmic reticulum membrane (GO:0030176)|membrane (GO:0016020)	enzyme binding (GO:0019899)|ligase activity (GO:0016874)|ubiquitin conjugating enzyme binding (GO:0031624)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.I650I(1)		breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(35)|ovary(1)|urinary_tract(3)	54						CCAGCCTCATCTGCCTTACTT	0.383																																						uc003jet.1																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|breast(1)	2						c.(1948-1950)ATC>ATT		membrane-associated ring finger (C3HC4) 6							223.0	196.0	205.0					5																	10414598		2203	4300	6503	SO:0001819	synonymous_variant	10299				protein K48-linked ubiquitination	integral to endoplasmic reticulum membrane	ubiquitin conjugating enzyme binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr5:10414598C>T	AB011169	CCDS34135.1, CCDS59487.1, CCDS59488.1	5p15.2	2013-01-09	2012-02-23		ENSG00000145495	ENSG00000145495		"""MARCH membrane-associated ring fingers"", ""RING-type (C3HC4) zinc fingers"""	30550	protein-coding gene	gene with protein product		613297	"""membrane-associated ring finger (C3HC4) 6"""			14722266	Standard	NM_001270660		Approved	TEB4, MARCH-VI, RNF176	uc003jet.2	O60337	OTTHUMG00000162027	ENST00000274140.5:c.1950C>T	5.37:g.10414598C>T						MARCH6_uc011cmu.1_Silent_p.I602I|MARCH6_uc003jeu.1_Silent_p.I348I|MARCH6_uc011cmv.1_Silent_p.I545I	p.I650I	NM_005885	NP_005876	O60337	MARH6_HUMAN			20	2133	+			650			Helical; (Potential).		A5PKZ4|B4DKJ2|B4DT33|D3DTC8|O14670|Q86X77	Silent	SNP	ENST00000274140.5	37	c.1950C>T	CCDS34135.1																																																																																				PASS	0.383	MARCH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366919.2	NM_005885		288	121	288	121	---	---	---	---
CTNND2	1501	broad.mit.edu	37	5	11384928	11384928	+	Silent	SNP	G	G	A	rs377310627		TCGA-66-2756-01A-01D-1522-08	TCGA-66-2756-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	472c95e6-eccb-4988-be16-fdace73b2ed8	ff4f5936-f847-42ad-aedf-6a6a7fff6002	g.chr5:11384928G>A	ENST00000304623.8	-	7	1215	c.1026C>T	c.(1024-1026)tcC>tcT	p.S342S	CTNND2_ENST00000458100.2_Intron|CTNND2_ENST00000495388.2_5'Flank|CTNND2_ENST00000359640.2_Silent_p.S342S|CTNND2_ENST00000511377.1_Silent_p.S251S|CTNND2_ENST00000503622.1_Intron	NM_001332.2	NP_001323.1	Q9UQB3	CTND2_HUMAN	catenin (cadherin-associated protein), delta 2	342					cell adhesion (GO:0007155)|learning (GO:0007612)|morphogenesis of a branching structure (GO:0001763)|multicellular organismal development (GO:0007275)|regulation of synaptic plasticity (GO:0048167)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.S342S(1)		NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|liver(1)|lung(71)|ovary(4)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	136						TGGGCGAGGAGGAGATGGTGG	0.667																																						uc003jfa.1																			1	Substitution - coding silent(1)		lung(1)	large_intestine(2)|ovary(2)|skin(2)|pancreas(1)|lung(1)	8						c.(1024-1026)TCC>TCT		catenin (cadherin-associated protein), delta 2		G		0,4400		0,0,2200	88.0	84.0	86.0		1026	1.9	1.0	5		86	1,8597	1.2+/-3.3	0,1,4298	no	coding-synonymous	CTNND2	NM_001332.2		0,1,6498	AA,AG,GG		0.0116,0.0,0.0077		342/1226	11384928	1,12997	2200	4299	6499	SO:0001819	synonymous_variant	1501				multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	adherens junction|cytoplasm|nucleus	protein binding	g.chr5:11384928G>A	U52828	CCDS3881.1, CCDS75227.1, CCDS75228.1	5p15.2	2013-02-14	2012-08-15		ENSG00000169862	ENSG00000169862		"""Armadillo repeat containing"""	2516	protein-coding gene	gene with protein product	"""neural plakophilin-related arm-repeat protein"""	604275	"""catenin (cadherin-associated protein), delta 2 (neural plakophilin-related arm-repeat protein)"""			9342840, 9223106	Standard	XM_005248251		Approved	NPRAP, GT24	uc003jfa.1	Q9UQB3	OTTHUMG00000090511	ENST00000304623.8:c.1026C>T	5.37:g.11384928G>A						CTNND2_uc010itt.2_Silent_p.S251S|CTNND2_uc011cmy.1_Intron|CTNND2_uc011cmz.1_Intron|CTNND2_uc010itu.1_Intron|CTNND2_uc011cmx.1_5'UTR	p.S342S	NM_001332	NP_001323	Q9UQB3	CTND2_HUMAN			7	1171	-			342					B0FTZ7|O00379|O15390|O43206|O43840|Q13589|Q9UM66|Q9UPM3	Silent	SNP	ENST00000304623.8	37	c.1026C>T	CCDS3881.1																																																																																				PASS	0.667	CTNND2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206999.1	NM_001332		74	24	74	24	---	---	---	---
DNAH5	1767	broad.mit.edu	37	5	13811766	13811766	+	Missense_Mutation	SNP	A	A	C			TCGA-66-2756-01A-01D-1522-08	TCGA-66-2756-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	472c95e6-eccb-4988-be16-fdace73b2ed8	ff4f5936-f847-42ad-aedf-6a6a7fff6002	g.chr5:13811766A>C	ENST00000265104.4	-	44	7501	c.7397T>G	c.(7396-7398)aTt>aGt	p.I2466S		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	2466					cilium movement (GO:0003341)|lateral ventricle development (GO:0021670)|left/right axis specification (GO:0070986)	axonemal dynein complex (GO:0005858)|axoneme (GO:0005930)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.I2466S(1)		NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					CTTCAGAGGAATCAGGCCTTG	0.403									Kartagener syndrome																													uc003jfd.2																			1	Substitution - Missense(1)		lung(1)	ovary(14)|skin(13)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)|pancreas(1)	31						c.(7396-7398)ATT>AGT		dynein, axonemal, heavy chain 5							88.0	87.0	87.0					5																	13811766		2203	4300	6503	SO:0001583	missense	1767	Kartagener_syndrome	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr5:13811766A>C	AJ132090	CCDS3882.1	5p15.2	2008-07-18	2006-09-04		ENSG00000039139	ENSG00000039139		"""Axonemal dyneins"""	2950	protein-coding gene	gene with protein product	"""dynein heavy chain 5"""	603335	"""dynein, axonemal, heavy polypeptide 5"""			9256245, 11788826	Standard	NM_001369		Approved	Dnahc5, HL1, PCD, CILD3, KTGNR	uc003jfd.2	Q8TE73	OTTHUMG00000090533	ENST00000265104.4:c.7397T>G	5.37:g.13811766A>C	ENSP00000265104:p.Ile2466Ser						p.I2466S	NM_001369	NP_001360	Q8TE73	DYH5_HUMAN			44	7439	-	Lung NSC(4;0.00476)		2466					Q92860|Q96L74|Q9H5S7|Q9HCG9	Missense_Mutation	SNP	ENST00000265104.4	37	c.7397T>G	CCDS3882.1	.	.	.	.	.	.	.	.	.	.	A	19.25	3.791663	0.70452	.	.	ENSG00000039139	ENST00000265104	T	0.25579	1.79	5.78	5.78	0.91487	.	0.000000	0.85682	D	0.000000	T	0.43897	0.1268	M	0.81179	2.53	0.80722	D	1	P	0.50443	0.935	P	0.49561	0.615	T	0.50591	-0.8810	10	0.87932	D	0	.	16.1193	0.81336	1.0:0.0:0.0:0.0	.	2466	Q8TE73	DYH5_HUMAN	S	2466	ENSP00000265104:I2466S	ENSP00000265104:I2466S	I	-	2	0	DNAH5	13864766	1.000000	0.71417	1.000000	0.80357	0.403000	0.30841	9.257000	0.95545	2.204000	0.70986	0.528000	0.53228	ATT		PASS	0.403	DNAH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207057.2	NM_001369		7	468	7	468	---	---	---	---
TRIO	7204	broad.mit.edu	37	5	14465677	14465677	+	Silent	SNP	C	C	T			TCGA-66-2756-01A-01D-1522-08	TCGA-66-2756-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	472c95e6-eccb-4988-be16-fdace73b2ed8	ff4f5936-f847-42ad-aedf-6a6a7fff6002	g.chr5:14465677C>T	ENST00000344204.4	+	37	5715	c.5691C>T	c.(5689-5691)cgC>cgT	p.R1897R	TRIO_ENST00000537187.1_Silent_p.R1897R|TRIO_ENST00000515710.1_3'UTR	NM_007118.2	NP_009049.2	O75962	TRIO_HUMAN	trio Rho guanine nucleotide exchange factor	1897					apoptotic signaling pathway (GO:0097190)|axon guidance (GO:0007411)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	cytosol (GO:0005829)	ATP binding (GO:0005524)|guanyl-nucleotide exchange factor activity (GO:0005085)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.R1897R(1)		NS(2)|breast(6)|central_nervous_system(4)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(21)|lung(34)|ovary(4)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	118	Lung NSC(4;0.000742)					TATTAGTCCGCCCCACCAGCT	0.517																																						uc003jff.2																			1	Substitution - coding silent(1)		lung(1)	skin(4)|central_nervous_system(3)|ovary(3)|large_intestine(2)|stomach(2)|breast(2)|upper_aerodigestive_tract(1)|kidney(1)	18						c.(5689-5691)CGC>CGT		triple functional domain (PTPRF interacting)							81.0	77.0	78.0					5																	14465677		2203	4300	6503	SO:0001819	synonymous_variant	7204				apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine phosphatase signaling pathway	cytosol	ATP binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity	g.chr5:14465677C>T	AF091395	CCDS3883.1	5p14-p15.1	2013-01-11	2012-07-12		ENSG00000038382	ENSG00000038382		"""Rho guanine nucleotide exchange factors"", ""Immunoglobulin superfamily / I-set domain containing"""	12303	protein-coding gene	gene with protein product		601893	"""triple functional domain (PTPRF interacting)"""			8643598	Standard	NM_007118		Approved	ARHGEF23	uc003jff.3	O75962	OTTHUMG00000131057	ENST00000344204.4:c.5691C>T	5.37:g.14465677C>T						TRIO_uc003jfg.2_RNA|TRIO_uc003jfh.1_Silent_p.R1546R|TRIO_uc003jfi.1_Silent_p.R200R	p.R1897R	NM_007118	NP_009049	O75962	TRIO_HUMAN			37	5697	+	Lung NSC(4;0.000742)		1897					D3DTD1|Q13458|Q59EQ7|Q6PJC9|Q6ZN05|Q8IWK8	Silent	SNP	ENST00000344204.4	37	c.5691C>T	CCDS3883.1																																																																																				PASS	0.517	TRIO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253711.2	NM_007118		14	223	14	223	---	---	---	---
ZNF622	90441	broad.mit.edu	37	5	16465700	16465700	+	Silent	SNP	C	C	G			TCGA-66-2756-01A-01D-1522-08	TCGA-66-2756-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	472c95e6-eccb-4988-be16-fdace73b2ed8	ff4f5936-f847-42ad-aedf-6a6a7fff6002	g.chr5:16465700C>G	ENST00000308683.2	-	1	201	c.75G>C	c.(73-75)acG>acC	p.T25T		NM_033414.2	NP_219482.1	Q969S3	ZN622_HUMAN	zinc finger protein 622	25					intrinsic apoptotic signaling pathway in response to oxidative stress (GO:0008631)|positive regulation of apoptotic process (GO:0043065)|positive regulation of JNK cascade (GO:0046330)|positive regulation of kinase activity (GO:0033674)|positive regulation of MAPK cascade (GO:0043410)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)	p.T25T(1)		endometrium(2)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|prostate(2)|urinary_tract(1)	25						GGTGCCAGTCCGTCTTATAGT	0.672																																						uc003jfq.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(73-75)ACG>ACC		zinc finger protein 622							31.0	34.0	33.0					5																	16465700		2203	4299	6502	SO:0001819	synonymous_variant	90441					cytoplasm|nucleus	nucleic acid binding|zinc ion binding	g.chr5:16465700C>G	AY046059	CCDS3886.1	5p15.1	2012-10-05			ENSG00000173545	ENSG00000173545			30958	protein-coding gene	gene with protein product		608694				11802789, 12645566	Standard	NM_033414		Approved	MGC2485, MGC17552, ZPR9	uc003jfq.3	Q969S3	OTTHUMG00000090567	ENST00000308683.2:c.75G>C	5.37:g.16465700C>G							p.T25T	NM_033414	NP_219482	Q969S3	ZN622_HUMAN			1	195	-			25			U1-type 1.			Silent	SNP	ENST00000308683.2	37	c.75G>C	CCDS3886.1																																																																																				PASS	0.672	ZNF622-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207105.1	NM_033414		18	147	18	147	---	---	---	---
CDH12	1010	broad.mit.edu	37	5	21975465	21975465	+	Silent	SNP	G	G	A			TCGA-66-2756-01A-01D-1522-08	TCGA-66-2756-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	472c95e6-eccb-4988-be16-fdace73b2ed8	ff4f5936-f847-42ad-aedf-6a6a7fff6002	g.chr5:21975465G>A	ENST00000382254.1	-	6	1347	c.261C>T	c.(259-261)ggC>ggT	p.G87G	CDH12_ENST00000522262.1_Silent_p.G87G|CDH12_ENST00000504376.2_Silent_p.G87G	NM_004061.3	NP_004052.2	P55289	CAD12_HUMAN	cadherin 12, type 2 (N-cadherin 2)	87	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.G87G(1)		NS(2)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(19)|lung(75)|ovary(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	120						ATTTCACAGTGCCCTCTCCCT	0.463										HNSCC(59;0.17)																												uc010iuc.2																			1	Substitution - coding silent(1)		lung(1)	ovary(2)	2						c.(259-261)GGC>GGT		cadherin 12, type 2 preproprotein							65.0	65.0	65.0					5																	21975465		2046	3892	5938	SO:0001819	synonymous_variant	1010				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:21975465G>A	L33477	CCDS3890.1	5p14.3	2010-01-26			ENSG00000154162	ENSG00000154162		"""Cadherins / Major cadherins"""	1751	protein-coding gene	gene with protein product		600562				7731968	Standard	NM_004061		Approved	Br-cadherin, CDHB	uc003jgk.2	P55289	OTTHUMG00000090591	ENST00000382254.1:c.261C>T	5.37:g.21975465G>A		HNSCC(59;0.17)				CDH12_uc011cno.1_Silent_p.G87G|CDH12_uc003jgk.2_Silent_p.G87G	p.G87G	NM_004061	NP_004052	P55289	CAD12_HUMAN			3	719	-			87			Cadherin 1.|Extracellular (Potential).		B2RBT1|B7Z2U6|Q86UD2	Silent	SNP	ENST00000382254.1	37	c.261C>T	CCDS3890.1																																																																																				PASS	0.463	CDH12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207139.1	NM_004061		318	142	318	142	---	---	---	---
PDZD2	23037	broad.mit.edu	37	5	32087950	32087950	+	Missense_Mutation	SNP	G	G	C			TCGA-66-2756-01A-01D-1522-08	TCGA-66-2756-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	472c95e6-eccb-4988-be16-fdace73b2ed8	ff4f5936-f847-42ad-aedf-6a6a7fff6002	g.chr5:32087950G>C	ENST00000438447.1	+	20	4784	c.4396G>C	c.(4396-4398)Ggt>Cgt	p.G1466R	PDZD2_ENST00000282493.3_Missense_Mutation_p.G1466R			O15018	PDZD2_HUMAN	PDZ domain containing 2	1466					cell adhesion (GO:0007155)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|nucleus (GO:0005634)		p.G1466R(1)		NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	148						CGGGGCTGGAGGTGGGAGCTC	0.706																																						uc003jhl.2																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(4)|ovary(2)|skin(2)|large_intestine(1)	9						c.(4396-4398)GGT>CGT		PDZ domain containing 2							9.0	11.0	10.0					5																	32087950		2181	4286	6467	SO:0001583	missense	23037				cell adhesion	cell-cell junction|endoplasmic reticulum|extracellular region|nucleus		g.chr5:32087950G>C	AB002298	CCDS34137.1	5p14.1	2008-02-05	2006-01-24	2006-01-24		ENSG00000133401			18486	protein-coding gene	gene with protein product		610697	"""PDZ domain containing 3"""	PDZK3		9205841	Standard	XM_005248271		Approved	KIAA0300	uc003jhm.3	O15018		ENST00000438447.1:c.4396G>C	5.37:g.32087950G>C	ENSP00000402033:p.Gly1466Arg					PDZD2_uc003jhm.2_Missense_Mutation_p.G1466R	p.G1466R	NM_178140	NP_835260	O15018	PDZD2_HUMAN			20	4784	+			1466					Q9BXD4	Missense_Mutation	SNP	ENST00000438447.1	37	c.4396G>C	CCDS34137.1	.	.	.	.	.	.	.	.	.	.	G	12.26	1.883309	0.33255	.	.	ENSG00000133401	ENST00000438447;ENST00000382161;ENST00000282493	T;T	0.07114	3.22;3.22	4.78	-0.867	0.10655	.	0.609206	0.13633	N	0.373543	T	0.06781	0.0173	L	0.34521	1.04	0.09310	N	1	B	0.20052	0.041	B	0.21360	0.034	T	0.31613	-0.9937	10	0.72032	D	0.01	.	8.6361	0.33948	0.5014:0.0:0.4986:0.0	.	1466	O15018	PDZD2_HUMAN	R	1466;1267;1466	ENSP00000402033:G1466R;ENSP00000282493:G1466R	ENSP00000282493:G1466R	G	+	1	0	PDZD2	32123707	0.000000	0.05858	0.000000	0.03702	0.108000	0.19459	0.034000	0.13776	-0.197000	0.10350	-0.448000	0.05591	GGT		PASS	0.706	PDZD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366608.1			31	14	31	14	---	---	---	---
NPR3	4883	broad.mit.edu	37	5	32774933	32774933	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2756-01A-01D-1522-08	TCGA-66-2756-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	472c95e6-eccb-4988-be16-fdace73b2ed8	ff4f5936-f847-42ad-aedf-6a6a7fff6002	g.chr5:32774933G>T	ENST00000265074.8	+	4	1522	c.1179G>T	c.(1177-1179)tgG>tgT	p.W393C	NPR3_ENST00000434067.2_Missense_Mutation_p.W177C|NPR3_ENST00000415685.2_Missense_Mutation_p.W177C|NPR3_ENST00000415167.2_Missense_Mutation_p.W393C	NM_000908.3|NM_001204375.1	NP_000899.1|NP_001191304.1	P17342	ANPRC_HUMAN	natriuretic peptide receptor 3	393					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|negative regulation of adenylate cyclase activity (GO:0007194)|negative regulation of smooth muscle cell proliferation (GO:0048662)|osteoclast proliferation (GO:0002158)|pancreatic juice secretion (GO:0030157)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of urine volume (GO:0035810)|regulation of blood pressure (GO:0008217)|regulation of osteoblast proliferation (GO:0033688)|skeletal system development (GO:0001501)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	G-protein coupled peptide receptor activity (GO:0008528)|hormone binding (GO:0042562)|natriuretic peptide receptor activity (GO:0016941)|peptide hormone binding (GO:0017046)	p.W393C(1)		autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	24					Nesiritide(DB04899)	AGCAGACTTGGAACAGAACAT	0.453																																						uc003jhv.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.(1177-1179)TGG>TGT		natriuretic peptide receptor C/guanylate cyclase	Nesiritide(DB04899)						157.0	143.0	147.0					5																	32774933		1862	4113	5975	SO:0001583	missense	4883				osteoclast proliferation|positive regulation of urine volume|regulation of blood pressure|regulation of osteoblast proliferation|skeletal system development	integral to membrane	hormone binding|natriuretic peptide receptor activity	g.chr5:32774933G>T		CCDS47196.1, CCDS56356.1, CCDS56357.1	5p13.3	2014-03-03	2014-03-03		ENSG00000113389	ENSG00000113389			7945	protein-coding gene	gene with protein product	"""guanylate cyclase C"""	108962	"""chromosome 5 open reading frame 23"", ""atrionatriuretic peptide receptor C"", ""natriuretic peptide receptor C/guanylate cyclase C (atrionatriuretic peptide receptor C)"", ""natriuretic peptide receptor C"""	NPRC, ANPRC, C5orf23		2162522, 1979052	Standard	NM_000908		Approved	GUCY2B, FLJ14054	uc003jhv.3	P17342	OTTHUMG00000150316	ENST00000265074.8:c.1179G>T	5.37:g.32774933G>T	ENSP00000265074:p.Trp393Cys					NPR3_uc010iuo.2_Missense_Mutation_p.W177C|NPR3_uc011cnz.1_Missense_Mutation_p.W177C|NPR3_uc003jhu.2_Missense_Mutation_p.W393C	p.W393C	NM_000908	NP_000899	P17342	ANPRC_HUMAN			4	1397	+			393			Extracellular (Potential).		A2RRD1|B4DT84|E7EPG9	Missense_Mutation	SNP	ENST00000265074.8	37	c.1179G>T	CCDS56357.1	.	.	.	.	.	.	.	.	.	.	G	19.68	3.872500	0.72180	.	.	ENSG00000113389	ENST00000509104;ENST00000434067;ENST00000415685;ENST00000265074;ENST00000415167	D;D;D;D;D	0.83506	-1.73;-1.73;-1.73;-1.73;-1.73	5.71	5.71	0.89125	Extracellular ligand-binding receptor (1);	0.118089	0.64402	D	0.000006	D	0.91546	0.7330	M	0.86502	2.82	0.80722	D	1	D;D;D;D	0.76494	0.999;0.999;0.993;0.993	D;D;P;P	0.68943	0.947;0.961;0.866;0.866	D	0.91054	0.4880	10	0.39692	T	0.17	-12.9683	16.1742	0.81840	0.0:0.0:0.8664:0.1336	.	177;177;393;393	E7EPG9;B4DT84;P17342;Q60I31	.;.;ANPRC_HUMAN;.	C	170;177;177;393;393	ENSP00000425325:W170C;ENSP00000388408:W177C;ENSP00000402490:W177C;ENSP00000265074:W393C;ENSP00000398028:W393C	ENSP00000265074:W393C	W	+	3	0	NPR3	32810690	1.000000	0.71417	1.000000	0.80357	0.954000	0.61252	4.552000	0.60747	2.687000	0.91594	0.655000	0.94253	TGG		PASS	0.453	NPR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317550.3	NM_000908		58	350	58	350	---	---	---	---
TARS	6897	broad.mit.edu	37	5	33461108	33461108	+	Missense_Mutation	SNP	G	G	C			TCGA-66-2756-01A-01D-1522-08	TCGA-66-2756-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	472c95e6-eccb-4988-be16-fdace73b2ed8	ff4f5936-f847-42ad-aedf-6a6a7fff6002	g.chr5:33461108G>C	ENST00000265112.3	+	12	1663	c.1352G>C	c.(1351-1353)gGa>gCa	p.G451A	TARS_ENST00000541634.1_Missense_Mutation_p.G347A|TARS_ENST00000455217.2_Missense_Mutation_p.G484A|TARS_ENST00000414361.2_Missense_Mutation_p.G330A|TARS_ENST00000502553.1_Missense_Mutation_p.G451A	NM_152295.4	NP_689508.3	P26639	SYTC_HUMAN	threonyl-tRNA synthetase	451					gene expression (GO:0010467)|threonyl-tRNA aminoacylation (GO:0006435)|translation (GO:0006412)|tRNA aminoacylation for protein translation (GO:0006418)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|protein homodimerization activity (GO:0042803)|threonine-tRNA ligase activity (GO:0004829)	p.G451A(1)		NS(1)|biliary_tract(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(7)|lung(11)|ovary(2)|prostate(1)	29					L-Threonine(DB00156)	GCACTCACAGGACTCACCCGG	0.493																																						uc003jhy.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(1351-1353)GGA>GCA		threonyl-tRNA synthetase	L-Threonine(DB00156)						91.0	92.0	92.0					5																	33461108		2203	4300	6503	SO:0001583	missense	6897				threonyl-tRNA aminoacylation	cytosol	ATP binding|protein homodimerization activity|threonine-tRNA ligase activity	g.chr5:33461108G>C	AK095852	CCDS3899.1, CCDS58943.1	5p13.2	2012-10-02			ENSG00000113407	ENSG00000113407	6.1.1.3	"""Aminoacyl tRNA synthetases / Class II"""	11572	protein-coding gene	gene with protein product	"""threonine tRNA ligase 1, cytoplasmic"""	187790					Standard	NM_152295		Approved		uc011coc.3	P26639	OTTHUMG00000090683	ENST00000265112.3:c.1352G>C	5.37:g.33461108G>C	ENSP00000265112:p.Gly451Ala					TARS_uc011cob.1_Missense_Mutation_p.G439A|TARS_uc010iup.1_Missense_Mutation_p.G392A|TARS_uc011coc.1_Missense_Mutation_p.G472A|TARS_uc003jhz.2_Missense_Mutation_p.G347A|TARS_uc011cod.1_Missense_Mutation_p.G330A	p.G451A	NM_152295	NP_689508	P26639	SYTC_HUMAN			12	1647	+			451					A8K8I1|B4DEG8|Q96FP5|Q9BWA6	Missense_Mutation	SNP	ENST00000265112.3	37	c.1352G>C	CCDS3899.1	.	.	.	.	.	.	.	.	.	.	G	33	5.283296	0.95489	.	.	ENSG00000113407	ENST00000502553;ENST00000265112;ENST00000541634;ENST00000455217;ENST00000414361	T;T;T;T;T	0.80738	-1.41;-1.41;-1.41;-1.41;-1.41	6.17	6.17	0.99709	Aminoacyl-tRNA synthetase, class II (1);Aminoacyl-tRNA synthetase, class II (G/ H/ P/ S), conserved domain (1);	0.093219	0.85682	D	0.000000	D	0.96231	0.8771	H	0.99993	5.365	0.80722	D	1	D;D;D;D	0.76494	0.999;0.999;0.993;0.999	D;D;D;D	0.79108	0.992;0.984;0.926;0.984	D	0.97802	1.0245	10	0.87932	D	0	-0.2329	20.8794	0.99867	0.0:0.0:1.0:0.0	.	330;484;347;451	E7ERI3;B4DEG8;G3XAN9;P26639	.;.;.;SYTC_HUMAN	A	451;451;347;484;330	ENSP00000424387:G451A;ENSP00000265112:G451A;ENSP00000438469:G347A;ENSP00000387710:G484A;ENSP00000394291:G330A	ENSP00000265112:G451A	G	+	2	0	TARS	33496865	1.000000	0.71417	0.952000	0.39060	0.991000	0.79684	9.835000	0.99442	2.941000	0.99782	0.655000	0.94253	GGA		PASS	0.493	TARS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207367.1	NM_152295		46	286	46	286	---	---	---	---
IL7R	3575	broad.mit.edu	37	5	35873682	35873682	+	Missense_Mutation	SNP	T	T	G			TCGA-66-2756-01A-01D-1522-08	TCGA-66-2756-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	472c95e6-eccb-4988-be16-fdace73b2ed8	ff4f5936-f847-42ad-aedf-6a6a7fff6002	g.chr5:35873682T>G	ENST00000303115.3	+	5	767	c.638T>G	c.(637-639)tTt>tGt	p.F213C	IL7R_ENST00000343305.4_Missense_Mutation_p.F213C|IL7R_ENST00000506850.1_Missense_Mutation_p.F213C	NM_002185.3	NP_002176.2	P16871	IL7RA_HUMAN	interleukin 7 receptor	213	Fibronectin type-III. {ECO:0000255|PROSITE-ProRule:PRU00316}.				B cell proliferation (GO:0042100)|cell growth (GO:0016049)|cell morphogenesis (GO:0000902)|cell surface receptor signaling pathway (GO:0007166)|homeostasis of number of cells (GO:0048872)|immune response (GO:0006955)|immunoglobulin production (GO:0002377)|interleukin-7-mediated signaling pathway (GO:0038111)|lymph node development (GO:0048535)|negative regulation of T cell mediated cytotoxicity (GO:0001915)|positive regulation of gene expression (GO:0010628)|positive regulation of T cell differentiation in thymus (GO:0033089)|regulation of cell size (GO:0008361)|regulation of DNA recombination (GO:0000018)|signal transduction (GO:0007165)|T cell differentiation (GO:0030217)	external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	antigen binding (GO:0003823)|interleukin-7 receptor activity (GO:0004917)	p.F213C(1)		NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(78)|kidney(2)|large_intestine(6)|lung(25)|ovary(3)|pancreas(1)|skin(5)|stomach(3)	126	all_lung(31;0.00015)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.187)|Colorectal(62;0.202)			GATCACTATTTTAAAGGCTTC	0.423			"""Mis, O"""		"""ALL, ETP ALL"""		Severe combined immune deficiency																															uc003jjs.2				Dom	yes		5	5p13	146661		interleukin 7 receptor	yes		L					1	Substitution - Missense(1)		lung(1)	ovary(3)|breast(1)|skin(1)	5						c.(637-639)TTT>TGT		interleukin 7 receptor precursor							92.0	88.0	89.0					5																	35873682		2203	4300	6503	SO:0001583	missense	3575				immune response|regulation of DNA recombination	extracellular region|integral to membrane	antigen binding|interleukin-7 receptor activity	g.chr5:35873682T>G	M29696	CCDS3911.1	5p13	2014-09-17			ENSG00000168685	ENSG00000168685		"""Interleukins and interleukin receptors"", ""CD molecules"", ""Fibronectin type III domain containing"""	6024	protein-coding gene	gene with protein product		146661				2317865	Standard	NM_002185		Approved	CD127	uc003jjs.4	P16871	OTTHUMG00000090791	ENST00000303115.3:c.638T>G	5.37:g.35873682T>G	ENSP00000306157:p.Phe213Cys					IL7R_uc011coo.1_Missense_Mutation_p.F213C|IL7R_uc011cop.1_Intron	p.F213C	NM_002185	NP_002176	P16871	IL7RA_HUMAN	Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.187)|Colorectal(62;0.202)		5	727	+	all_lung(31;0.00015)		213			Extracellular (Potential).|Fibronectin type-III.		B2RCS6|B4DVT1|Q05CU8|Q6NSP4|Q6NWM0|Q6NWM1|Q6NWM2|Q6NWM3|Q6SV45|Q9UPC1	Missense_Mutation	SNP	ENST00000303115.3	37	c.638T>G	CCDS3911.1	.	.	.	.	.	.	.	.	.	.	T	13.72	2.321273	0.41096	.	.	ENSG00000168685	ENST00000303115;ENST00000343305;ENST00000506850;ENST00000505093	D;T;T;T	0.95554	-3.74;-0.3;-0.3;-1.02	5.97	2.02	0.26589	Short hematopoietin receptor, family 1, conserved site (1);Fibronectin, type III (2);Immunoglobulin-like fold (1);	0.125308	0.56097	D	0.000033	D	0.96485	0.8853	M	0.68952	2.095	0.29814	N	0.831374	D;D	0.89917	1.0;1.0	D;D	0.83275	0.992;0.996	D	0.92889	0.6329	10	0.87932	D	0	-10.3729	8.9084	0.35537	0.4307:0.0:0.0:0.5693	.	213;213	D6RGV2;P16871	.;IL7RA_HUMAN	C	213;213;213;16	ENSP00000306157:F213C;ENSP00000345819:F213C;ENSP00000421207:F213C;ENSP00000426069:F16C	ENSP00000306157:F213C	F	+	2	0	IL7R	35909439	0.454000	0.25728	0.157000	0.22605	0.494000	0.33585	0.504000	0.22626	0.090000	0.17273	0.533000	0.62120	TTT		PASS	0.423	IL7R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207577.2			9	310	9	310	---	---	---	---
C5orf51	285636	broad.mit.edu	37	5	41909865	41909865	+	Silent	SNP	A	A	T			TCGA-66-2756-01A-01D-1522-08	TCGA-66-2756-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	472c95e6-eccb-4988-be16-fdace73b2ed8	ff4f5936-f847-42ad-aedf-6a6a7fff6002	g.chr5:41909865A>T	ENST00000381647.2	+	3	244	c.225A>T	c.(223-225)acA>acT	p.T75T	C5orf51_ENST00000505931.2_3'UTR	NM_175921.4	NP_787117.3	A6NDU8	CE051_HUMAN	chromosome 5 open reading frame 51	75								p.T75T(1)		endometrium(1)|large_intestine(5)|lung(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	11						TGGACATGACATATTTTGAGG	0.294																																						uc003jmo.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(223-225)ACA>ACT		hypothetical protein LOC285636							36.0	38.0	37.0					5																	41909865		2190	4276	6466	SO:0001819	synonymous_variant	285636							g.chr5:41909865A>T	AL833916, AK094002	CCDS34151.1	5p13.1	2008-07-18			ENSG00000205765	ENSG00000205765			27750	protein-coding gene	gene with protein product						14702039	Standard	NM_175921		Approved	LOC285636	uc003jmo.3	A6NDU8	OTTHUMG00000162084	ENST00000381647.2:c.225A>T	5.37:g.41909865A>T							p.T75T	NM_175921	NP_787117	A6NDU8	CE051_HUMAN			3	225	+			75					A2RRM9	Silent	SNP	ENST00000381647.2	37	c.225A>T	CCDS34151.1																																																																																				PASS	0.294	C5orf51-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367144.1	NM_175921		25	129	25	129	---	---	---	---
HTR1A	3350	broad.mit.edu	37	5	63257019	63257019	+	Silent	SNP	G	G	T			TCGA-66-2756-01A-01D-1522-08	TCGA-66-2756-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	472c95e6-eccb-4988-be16-fdace73b2ed8	ff4f5936-f847-42ad-aedf-6a6a7fff6002	g.chr5:63257019G>T	ENST00000323865.3	-	1	761	c.528C>A	c.(526-528)cgC>cgA	p.R176R	RP11-158J3.2_ENST00000502882.1_RNA	NM_000524.3	NP_000515.2	P08908	5HT1A_HUMAN	5-hydroxytryptamine (serotonin) receptor 1A, G protein-coupled	176					adenylate cyclase-inhibiting serotonin receptor signaling pathway (GO:0007198)|behavioral fear response (GO:0001662)|cell proliferation (GO:0008283)|exploration behavior (GO:0035640)|G-protein coupled receptor signaling pathway (GO:0007186)|positive regulation of cell proliferation (GO:0008284)|regulation of behavior (GO:0050795)|regulation of dopamine metabolic process (GO:0042053)|regulation of hormone secretion (GO:0046883)|regulation of serotonin secretion (GO:0014062)|serotonin metabolic process (GO:0042428)|serotonin receptor signaling pathway (GO:0007210)|vasoconstriction (GO:0042310)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	serotonin receptor activity (GO:0004993)	p.R176R(1)		cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(29)|ovary(2)|pancreas(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	56		Lung NSC(810;3.55e-06)|Prostate(74;0.0352)|Ovarian(174;0.0545)|Breast(144;0.0575)|Colorectal(97;0.234)		Lung(70;0.105)	Acepromazine(DB01614)|Alprenolol(DB00866)|Alverine(DB01616)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Asenapine(DB06216)|Bopindolol(DB08807)|Bromocriptine(DB01200)|Buspirone(DB00490)|Cabergoline(DB00248)|Chlorpromazine(DB00477)|Cinitapride(DB08810)|Clozapine(DB00363)|Desipramine(DB01151)|Dopamine(DB00988)|Doxepin(DB01142)|Eletriptan(DB00216)|Ergoloid mesylate(DB01049)|Ergotamine(DB00696)|Iloperidone(DB04946)|Imipramine(DB00458)|Ketamine(DB01221)|Lisuride(DB00589)|Loxapine(DB00408)|Lurasidone(DB08815)|Methysergide(DB00247)|Mianserin(DB06148)|Molindone(DB01618)|Naratriptan(DB00952)|Nefazodone(DB01149)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Ondansetron(DB00904)|Paliperidone(DB01267)|Penbutolol(DB01359)|Pergolide(DB01186)|Pindolol(DB00960)|Pipotiazine(DB01621)|Pramipexole(DB00413)|Propranolol(DB00571)|Quetiapine(DB01224)|Risperidone(DB00734)|Ropinirole(DB00268)|Rotigotine(DB05271)|Sumatriptan(DB00669)|Thioproperazine(DB01622)|Trazodone(DB00656)|Trimipramine(DB00726)|Vilazodone(DB06684)|Yohimbine(DB01392)|Ziprasidone(DB00246)|Zolmitriptan(DB00315)	CTTCCGGGGTGCGCCAGCCCA	0.597																																						uc011cqt.1																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|pancreas(2)	4						c.(526-528)CGC>CGA		5-hydroxytryptamine (serotonin) receptor 1A	Alprenolol(DB00866)|Aripiprazole(DB01238)|Buspirone(DB00490)|Clozapine(DB00363)|Eletriptan(DB00216)|Ergoloid mesylate(DB01049)|Fluvoxamine(DB00176)|Lisuride(DB00589)|Methysergide(DB00247)|Mirtazapine(DB00370)|Pindolol(DB00960)|Propranolol(DB00571)|Quetiapine(DB01224)|Sertraline(DB01104)|Tegaserod(DB01079)|Trazodone(DB00656)|Venlafaxine(DB00285)|Ziprasidone(DB00246)						105.0	122.0	116.0					5																	63257019		2203	4300	6503	SO:0001819	synonymous_variant	3350				behavior|positive regulation of cell proliferation	integral to plasma membrane	serotonin receptor activity	g.chr5:63257019G>T	AF498978	CCDS34168.1	5q11.2-q13	2012-08-08	2012-02-03			ENSG00000178394		"""5-HT (serotonin) receptors"", ""GPCR / Class A : 5-HT (serotonin) receptors, GPCR only"""	5286	protein-coding gene	gene with protein product		109760	"""5-hydroxytryptamine (serotonin) receptor 1A"""	ADRB2RL1, ADRBRL1		2591972, 12969265	Standard	NM_000524		Approved	5-HT1A	uc011cqt.3	P08908		ENST00000323865.3:c.528C>A	5.37:g.63257019G>T							p.R176R	NM_000524	NP_000515	P08908	5HT1A_HUMAN		Lung(70;0.105)	1	528	-		Lung NSC(810;3.55e-06)|Prostate(74;0.0352)|Ovarian(174;0.0545)|Breast(144;0.0575)|Colorectal(97;0.234)	176			Helical; Name=4; (By similarity).		Q6LAE7	Silent	SNP	ENST00000323865.3	37	c.528C>A	CCDS34168.1																																																																																				PASS	0.597	HTR1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368397.1	NM_000524		59	58	59	58	---	---	---	---
IQGAP2	10788	broad.mit.edu	37	5	75954376	75954376	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2756-01A-01D-1522-08	TCGA-66-2756-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	472c95e6-eccb-4988-be16-fdace73b2ed8	ff4f5936-f847-42ad-aedf-6a6a7fff6002	g.chr5:75954376G>T	ENST00000274364.6	+	21	2710	c.2413G>T	c.(2413-2415)Gca>Tca	p.A805S	IQGAP2_ENST00000502745.1_Missense_Mutation_p.A301S|IQGAP2_ENST00000379730.3_Missense_Mutation_p.A307S|IQGAP2_ENST00000396234.3_Missense_Mutation_p.A301S	NM_006633.2	NP_006624	Q13576	IQGA2_HUMAN	IQ motif containing GTPase activating protein 2	805					negative regulation of catalytic activity (GO:0043086)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	actin cytoskeleton (GO:0015629)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|microvillus (GO:0005902)	actin binding (GO:0003779)|GTPase inhibitor activity (GO:0005095)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|Ras GTPase activator activity (GO:0005099)	p.A805S(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(23)|ovary(6)|prostate(1)|skin(3)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	68		all_lung(232;0.000514)|Lung NSC(167;0.00135)|Prostate(461;0.00838)|Ovarian(174;0.0149)		all cancers(79;1.38e-36)		ACTAGAGGTTGCACGATTAAG	0.448																																						uc003kek.2																			1	Substitution - Missense(1)		lung(1)	ovary(6)|central_nervous_system(1)	7						c.(2413-2415)GCA>TCA		IQ motif containing GTPase activating protein 2							121.0	113.0	116.0					5																	75954376		2203	4300	6503	SO:0001583	missense	10788				small GTPase mediated signal transduction	actin cytoskeleton	actin binding|calmodulin binding|GTPase inhibitor activity|Ras GTPase activator activity	g.chr5:75954376G>T	U51903	CCDS34188.1, CCDS68897.1, CCDS68898.1, CCDS75262.1	5q	2008-07-18			ENSG00000145703	ENSG00000145703			6111	protein-coding gene	gene with protein product		605401				8756646	Standard	XM_005248409		Approved		uc003kek.3	Q13576	OTTHUMG00000162432	ENST00000274364.6:c.2413G>T	5.37:g.75954376G>T	ENSP00000274364:p.Ala805Ser					IQGAP2_uc010izv.2_Missense_Mutation_p.A358S|IQGAP2_uc011csv.1_Missense_Mutation_p.A301S|IQGAP2_uc003kel.2_Missense_Mutation_p.A301S	p.A805S	NM_006633	NP_006624	Q13576	IQGA2_HUMAN		all cancers(79;1.38e-36)	21	2635	+		all_lung(232;0.000514)|Lung NSC(167;0.00135)|Prostate(461;0.00838)|Ovarian(174;0.0149)	805					A8K4V1|B7Z8A4|J3KR91	Missense_Mutation	SNP	ENST00000274364.6	37	c.2413G>T	CCDS34188.1	.	.	.	.	.	.	.	.	.	.	G	11.64	1.698516	0.30142	.	.	ENSG00000145703	ENST00000274364;ENST00000379730;ENST00000514350;ENST00000505766;ENST00000514001;ENST00000396234;ENST00000545384;ENST00000502745	T;T;T;T;T;T;T	0.04317	4.36;4.22;3.77;4.36;3.65;4.22;4.22	6.06	4.26	0.50523	.	0.238172	0.42548	D	0.000685	T	0.02230	0.0069	N	0.03608	-0.345	0.35561	D	0.804708	B;B;B;B	0.22541	0.055;0.071;0.055;0.032	B;B;B;B	0.28385	0.089;0.065;0.089;0.041	T	0.49890	-0.8891	10	0.17832	T	0.49	-24.3671	7.1138	0.25405	0.2001:0.0:0.7999:0.0	.	307;755;301;805	F5H7S7;E7EWC2;Q13576-2;Q13576	.;.;.;IQGA2_HUMAN	S	805;307;778;755;358;301;358;301	ENSP00000274364:A805S;ENSP00000442313:A307S;ENSP00000423672:A778S;ENSP00000421097:A755S;ENSP00000422661:A358S;ENSP00000379535:A301S;ENSP00000426027:A301S	ENSP00000274364:A805S	A	+	1	0	IQGAP2	75990132	1.000000	0.71417	0.676000	0.29932	0.844000	0.47949	6.368000	0.73104	2.882000	0.98803	0.655000	0.94253	GCA		PASS	0.448	IQGAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368877.1	NM_006633		78	28	78	28	---	---	---	---
YTHDC2	64848	broad.mit.edu	37	5	112915353	112915353	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2756-01A-01D-1522-08	TCGA-66-2756-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	472c95e6-eccb-4988-be16-fdace73b2ed8	ff4f5936-f847-42ad-aedf-6a6a7fff6002	g.chr5:112915353G>T	ENST00000161863.4	+	24	3528	c.3315G>T	c.(3313-3315)ttG>ttT	p.L1105F		NM_022828.3	NP_073739.3	Q9H6S0	YTDC2_HUMAN	YTH domain containing 2	1105					ATP catabolic process (GO:0006200)|positive regulation by host of viral genome replication (GO:0044829)|response to interleukin-1 (GO:0070555)|response to tumor necrosis factor (GO:0034612)	endoplasmic reticulum (GO:0005783)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)|RNA polymerase binding (GO:0070063)|RNA-dependent ATPase activity (GO:0008186)	p.L1105F(1)		NS(2)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(13)|lung(10)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	43		all_cancers(142;7.69e-05)|all_epithelial(76;6.42e-07)|Colorectal(10;0.00278)|Prostate(80;0.00955)|Ovarian(225;0.0444)|Lung NSC(810;0.143)|all_lung(232;0.163)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;7.2e-08)|Epithelial(69;8.83e-08)|all cancers(49;6.9e-06)|COAD - Colon adenocarcinoma(37;0.0458)|Colorectal(14;0.0594)		TGGCAGCCTTGAAACTTGATG	0.368																																						uc003kqn.2																			1	Substitution - Missense(1)		lung(1)	skin(2)|central_nervous_system(1)	3						c.(3313-3315)TTG>TTT		YTH domain containing 2							155.0	156.0	156.0					5																	112915353		2202	4300	6502	SO:0001583	missense	64848						ATP binding|ATP-dependent helicase activity|nucleic acid binding	g.chr5:112915353G>T	AK000915	CCDS4113.1	5q22.3	2008-02-05			ENSG00000047188	ENSG00000047188			24721	protein-coding gene	gene with protein product						12477932	Standard	NM_022828		Approved	FLJ2194, FLJ10053, DKFZp564A186	uc003kqn.3	Q9H6S0	OTTHUMG00000128837	ENST00000161863.4:c.3315G>T	5.37:g.112915353G>T	ENSP00000161863:p.Leu1105Phe						p.L1105F	NM_022828	NP_073739	Q9H6S0	YTDC2_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;7.2e-08)|Epithelial(69;8.83e-08)|all cancers(49;6.9e-06)|COAD - Colon adenocarcinoma(37;0.0458)|Colorectal(14;0.0594)	24	3498	+		all_cancers(142;7.69e-05)|all_epithelial(76;6.42e-07)|Colorectal(10;0.00278)|Prostate(80;0.00955)|Ovarian(225;0.0444)|Lung NSC(810;0.143)|all_lung(232;0.163)|Breast(839;0.244)	1105					B2RP66	Missense_Mutation	SNP	ENST00000161863.4	37	c.3315G>T	CCDS4113.1	.	.	.	.	.	.	.	.	.	.	G	13.35	2.210568	0.39102	.	.	ENSG00000047188	ENST00000161863;ENST00000511372	T	0.03496	3.91	5.82	3.96	0.45880	.	0.184142	0.37219	N	0.002194	T	0.02888	0.0086	N	0.21194	0.64	0.80722	D	1	B	0.23591	0.088	B	0.23275	0.045	T	0.51733	-0.8668	10	0.44086	T	0.13	.	6.6117	0.22755	0.1559:0.0:0.7033:0.1409	.	1105	Q9H6S0	YTDC2_HUMAN	F	1105;1015	ENSP00000161863:L1105F	ENSP00000161863:L1105F	L	+	3	2	YTHDC2	112943252	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.109000	0.41863	0.723000	0.32274	0.655000	0.94253	TTG		PASS	0.368	YTHDC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250776.2	NM_022828		90	45	90	45	---	---	---	---
PCDHA1	56147	broad.mit.edu	37	5	140166631	140166631	+	Silent	SNP	A	A	G			TCGA-66-2756-01A-01D-1522-08	TCGA-66-2756-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	472c95e6-eccb-4988-be16-fdace73b2ed8	ff4f5936-f847-42ad-aedf-6a6a7fff6002	g.chr5:140166631A>G	ENST00000504120.2	+	1	756	c.756A>G	c.(754-756)ttA>ttG	p.L252L	PCDHA1_ENST00000394633.3_Silent_p.L252L|PCDHA1_ENST00000378133.3_Silent_p.L252L	NM_018900.2	NP_061723.1	Q9Y5I3	PCDA1_HUMAN	protocadherin alpha 1	252	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.L252L(2)		breast(3)|endometrium(3)|kidney(2)|large_intestine(13)|lung(34)|prostate(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(3)	70			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCCACTTGTTAGAGACTACAG	0.463																																						uc003lhb.2																			2	Substitution - coding silent(2)		lung(2)	skin(1)	1						c.(754-756)TTA>TTG		protocadherin alpha 1 isoform 1 precursor							122.0	116.0	118.0					5																	140166631		2203	4300	6503	SO:0001819	synonymous_variant	56147				homophilic cell adhesion|nervous system development	extracellular region|integral to plasma membrane	calcium ion binding|protein binding	g.chr5:140166631A>G	AF152479	CCDS54912.1, CCDS54913.1	5q31	2010-11-26				ENSG00000204970		"""Cadherins / Protocadherins : Clustered"""	8663	other	complex locus constituent	"""KIAA0345-like 13"""	606307				10380929	Standard	NM_018900		Approved			Q9Y5I3		ENST00000504120.2:c.756A>G	5.37:g.140166631A>G						PCDHA1_uc003lha.2_Silent_p.L252L|PCDHA1_uc003lgz.2_Silent_p.L252L	p.L252L	NM_018900	NP_061723	Q9Y5I3	PCDA1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	756	+			252			Cadherin 3.|Extracellular (Potential).		O75288|Q9NRT7	Silent	SNP	ENST00000504120.2	37	c.756A>G	CCDS54913.1																																																																																				PASS	0.463	PCDHA1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000389127.1	NM_018900		49	64	49	64	---	---	---	---
PCDHA1	56147	broad.mit.edu	37	5	140167155	140167155	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2756-01A-01D-1522-08	TCGA-66-2756-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	472c95e6-eccb-4988-be16-fdace73b2ed8	ff4f5936-f847-42ad-aedf-6a6a7fff6002	g.chr5:140167155C>A	ENST00000504120.2	+	1	1280	c.1280C>A	c.(1279-1281)gCg>gAg	p.A427E	PCDHA1_ENST00000394633.3_Missense_Mutation_p.A427E|PCDHA1_ENST00000378133.3_Missense_Mutation_p.A427E	NM_018900.2	NP_061723.1	Q9Y5I3	PCDA1_HUMAN	protocadherin alpha 1	427	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.A427E(2)		breast(3)|endometrium(3)|kidney(2)|large_intestine(13)|lung(34)|prostate(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(3)	70			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTGGTGACCGCGCGGGACGGG	0.647																																						uc003lhb.2																			2	Substitution - Missense(2)		lung(2)	skin(1)	1						c.(1279-1281)GCG>GAG		protocadherin alpha 1 isoform 1 precursor							95.0	99.0	98.0					5																	140167155		2203	4300	6503	SO:0001583	missense	56147				homophilic cell adhesion|nervous system development	extracellular region|integral to plasma membrane	calcium ion binding|protein binding	g.chr5:140167155C>A	AF152479	CCDS54912.1, CCDS54913.1	5q31	2010-11-26				ENSG00000204970		"""Cadherins / Protocadherins : Clustered"""	8663	other	complex locus constituent	"""KIAA0345-like 13"""	606307				10380929	Standard	NM_018900		Approved			Q9Y5I3		ENST00000504120.2:c.1280C>A	5.37:g.140167155C>A	ENSP00000420840:p.Ala427Glu					PCDHA1_uc003lha.2_Missense_Mutation_p.A427E|PCDHA1_uc003lgz.2_Missense_Mutation_p.A427E	p.A427E	NM_018900	NP_061723	Q9Y5I3	PCDA1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1280	+			427			Cadherin 4.|Extracellular (Potential).		O75288|Q9NRT7	Missense_Mutation	SNP	ENST00000504120.2	37	c.1280C>A	CCDS54913.1	.	.	.	.	.	.	.	.	.	.	c	16.54	3.150727	0.57151	.	.	ENSG00000204970	ENST00000504120;ENST00000394633;ENST00000378133	T;T;T	0.71934	-0.61;-0.61;-0.61	3.89	3.89	0.44902	Cadherin (5);Cadherin-like (1);	0.000000	0.41097	U	0.000942	D	0.88793	0.6533	H	0.97918	4.105	0.41898	D	0.990402	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.993;0.993	D	0.91595	0.5290	10	0.87932	D	0	.	11.0243	0.47736	0.0:0.9067:0.0:0.0933	.	427;427;427	Q9Y5I3;Q9Y5I3-2;Q9Y5I3-3	PCDA1_HUMAN;.;.	E	427	ENSP00000420840:A427E;ENSP00000378129:A427E;ENSP00000367373:A427E	ENSP00000367373:A427E	A	+	2	0	PCDHA1	140147339	0.999000	0.42202	0.035000	0.18076	0.479000	0.33129	3.984000	0.56923	1.913000	0.55393	0.449000	0.29647	GCG		PASS	0.647	PCDHA1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000389127.1	NM_018900		50	30	50	30	---	---	---	---
PCDHA8	56140	broad.mit.edu	37	5	140223247	140223247	+	Missense_Mutation	SNP	G	G	A			TCGA-66-2756-01A-01D-1522-08	TCGA-66-2756-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	472c95e6-eccb-4988-be16-fdace73b2ed8	ff4f5936-f847-42ad-aedf-6a6a7fff6002	g.chr5:140223247G>A	ENST00000531613.1	+	1	2341	c.2341G>A	c.(2341-2343)Gga>Aga	p.G781R	PCDHA8_ENST00000378123.3_Missense_Mutation_p.G781R|PCDHA5_ENST00000529859.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA5_ENST00000529619.1_Intron	NM_018911.2	NP_061734.1	Q9Y5H6	PCDA8_HUMAN	protocadherin alpha 8	781	5 X 4 AA repeats of P-X-X-P.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)	p.G781R(2)		NS(2)|breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(31)|ovary(2)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(6)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCCTGATCTGGGATCAGTTGA	0.473																																						uc003lhs.2																			2	Substitution - Missense(2)		lung(2)	upper_aerodigestive_tract(1)|ovary(1)	2						c.(2341-2343)GGA>AGA		protocadherin alpha 8 isoform 1 precursor							55.0	56.0	56.0					5																	140223247		2196	4264	6460	SO:0001583	missense	56140				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding|protein binding	g.chr5:140223247G>A	AF152486	CCDS54919.1	5q31	2010-11-26				ENSG00000204962		"""Cadherins / Protocadherins : Clustered"""	8674	other	complex locus constituent	"""KIAA0345-like 6"""	606314				10380929	Standard	NM_018911		Approved			Q9Y5H6		ENST00000531613.1:c.2341G>A	5.37:g.140223247G>A	ENSP00000434655:p.Gly781Arg					PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhr.1_Missense_Mutation_p.G781R	p.G781R	NM_018911	NP_061734	Q9Y5H6	PCDA8_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	2341	+			781			Cytoplasmic (Potential).|5 X 4 AA repeats of P-X-X-P.		B9EGT7|O75281	Missense_Mutation	SNP	ENST00000531613.1	37	c.2341G>A	CCDS54919.1	.	.	.	.	.	.	.	.	.	.	G	4.659	0.122538	0.08931	.	.	ENSG00000204962	ENST00000531613;ENST00000378123	T;T	0.11063	2.81;2.81	3.06	-0.0488	0.13837	.	645.603000	0.01115	U	0.005670	T	0.11410	0.0278	L	0.49778	1.585	0.09310	N	1	B;B	0.06786	0.001;0.001	B;B	0.12156	0.002;0.007	T	0.33085	-0.9882	10	0.16420	T	0.52	.	6.2344	0.20754	0.1197:0.4048:0.4755:0.0	.	781;781	Q9Y5H6;Q9Y5H6-2	PCDA8_HUMAN;.	R	781	ENSP00000434655:G781R;ENSP00000367363:G781R	ENSP00000367363:G781R	G	+	1	0	PCDHA8	140203431	0.134000	0.22483	0.000000	0.03702	0.067000	0.16453	0.820000	0.27323	0.093000	0.17368	0.460000	0.39030	GGA		PASS	0.473	PCDHA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372830.2	NM_018911		39	26	39	26	---	---	---	---
PCDHB5	26167	broad.mit.edu	37	5	140515490	140515490	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2756-01A-01D-1522-08	TCGA-66-2756-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	472c95e6-eccb-4988-be16-fdace73b2ed8	ff4f5936-f847-42ad-aedf-6a6a7fff6002	g.chr5:140515490G>T	ENST00000231134.5	+	1	691	c.474G>T	c.(472-474)caG>caT	p.Q158H		NM_015669.2	NP_056484.1	Q9Y5E4	PCDB5_HUMAN	protocadherin beta 5	158	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|homophilic cell adhesion (GO:0007156)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.Q158H(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)			AAATAGCCCAGGACTTTGACA	0.453																																						uc003liq.2																			1	Substitution - Missense(1)		lung(1)	skin(3)|ovary(2)	5						c.(472-474)CAG>CAT		protocadherin beta 5 precursor							97.0	102.0	100.0					5																	140515490		2203	4300	6503	SO:0001583	missense	26167				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding|protein binding	g.chr5:140515490G>T	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.474G>T	5.37:g.140515490G>T	ENSP00000231134:p.Gln158His						p.Q158H	NM_015669	NP_056484	Q9Y5E4	PCDB5_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	691	+			158			Cadherin 2.|Extracellular (Potential).		Q549F4|Q9UFU9	Missense_Mutation	SNP	ENST00000231134.5	37	c.474G>T	CCDS4247.1	.	.	.	.	.	.	.	.	.	.	G	9.861	1.196306	0.22037	.	.	ENSG00000113209	ENST00000231134	T	0.51325	0.71	5.18	4.29	0.51040	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.43765	0.1262	L	0.53249	1.67	0.34102	D	0.661958	B	0.17465	0.022	B	0.26770	0.073	T	0.51679	-0.8675	9	0.35671	T	0.21	.	10.5604	0.45142	0.2035:0.0:0.7965:0.0	.	158	Q9Y5E4	PCDB5_HUMAN	H	158	ENSP00000231134:Q158H	ENSP00000231134:Q158H	Q	+	3	2	PCDHB5	140495674	0.000000	0.05858	0.999000	0.59377	0.962000	0.63368	-2.209000	0.01228	2.581000	0.87130	0.555000	0.69702	CAG		PASS	0.453	PCDHB5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251811.1	NM_015669		77	36	77	36	---	---	---	---
PCDHB7	56129	broad.mit.edu	37	5	140553340	140553340	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2756-01A-01D-1522-08	TCGA-66-2756-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	472c95e6-eccb-4988-be16-fdace73b2ed8	ff4f5936-f847-42ad-aedf-6a6a7fff6002	g.chr5:140553340C>A	ENST00000231137.3	+	1	1098	c.924C>A	c.(922-924)gaC>gaA	p.D308E		NM_018940.2	NP_061763.1	Q9Y5E2	PCDB7_HUMAN	protocadherin beta 7	308	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.D308E(1)		NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	119			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CGCAATTGGACTATGAGGCAA	0.408																																						uc003lit.2																			1	Substitution - Missense(1)		lung(1)	ovary(4)|central_nervous_system(1)|skin(1)	6						c.(922-924)GAC>GAA		protocadherin beta 7 precursor							79.0	83.0	82.0					5																	140553340		2203	4300	6503	SO:0001583	missense	56129				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140553340C>A	AF152500	CCDS4249.1	5q31	2010-01-26			ENSG00000113212	ENSG00000113212		"""Cadherins / Protocadherins : Clustered"""	8692	other	protocadherin		606333				10380929	Standard	NM_018940		Approved	PCDH-BETA7	uc003lit.3	Q9Y5E2	OTTHUMG00000129608	ENST00000231137.3:c.924C>A	5.37:g.140553340C>A	ENSP00000231137:p.Asp308Glu						p.D308E	NM_018940	NP_061763	Q9Y5E2	PCDB7_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	1098	+			308			Extracellular (Potential).|Cadherin 3.		A1L3Y8	Missense_Mutation	SNP	ENST00000231137.3	37	c.924C>A	CCDS4249.1	.	.	.	.	.	.	.	.	.	.	C	14.63	2.591465	0.46214	.	.	ENSG00000113212	ENST00000231137;ENST00000543636	T	0.63255	-0.03	4.61	1.19	0.21007	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.80352	0.4607	H	0.95365	3.66	0.23023	N	0.998413	P	0.52463	0.953	P	0.59761	0.863	T	0.68439	-0.5408	9	0.87932	D	0	.	7.5338	0.27697	0.0:0.5168:0.0:0.4832	.	308	Q9Y5E2	PCDB7_HUMAN	E	308;91	ENSP00000231137:D308E	ENSP00000231137:D308E	D	+	3	2	PCDHB7	140533524	0.002000	0.14202	0.851000	0.33527	0.615000	0.37417	-1.214000	0.02988	0.450000	0.26774	0.655000	0.94253	GAC		PASS	0.408	PCDHB7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251803.2	NM_018940		63	24	63	24	---	---	---	---
PCDHB11	56125	broad.mit.edu	37	5	140580788	140580788	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2756-01A-01D-1522-08	TCGA-66-2756-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	472c95e6-eccb-4988-be16-fdace73b2ed8	ff4f5936-f847-42ad-aedf-6a6a7fff6002	g.chr5:140580788G>T	ENST00000354757.3	+	1	1441	c.1441G>T	c.(1441-1443)Ggc>Tgc	p.G481C	PCDHB11_ENST00000536699.1_Missense_Mutation_p.G116C	NM_018931.2	NP_061754.1	Q9Y5F2	PCDBB_HUMAN	protocadherin beta 11	481	Cadherin 5. {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.G481C(1)		NS(2)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	63			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CAGAGACTCAGGCACCAACGC	0.632																																						uc003liy.2																			1	Substitution - Missense(1)		lung(1)	skin(3)|ovary(2)|upper_aerodigestive_tract(1)	6						c.(1441-1443)GGC>TGC		protocadherin beta 11 precursor							137.0	132.0	134.0					5																	140580788		2203	4300	6503	SO:0001583	missense	56125				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding	g.chr5:140580788G>T	AF152490	CCDS4253.1	5q31	2010-01-26			ENSG00000197479	ENSG00000197479		"""Cadherins / Protocadherins : Clustered"""	8682	other	protocadherin	"""cadherin ME2"""	606337				10380929	Standard	NM_018931		Approved	PCDH-BETA11, ME2	uc003liy.3	Q9Y5F2	OTTHUMG00000129618	ENST00000354757.3:c.1441G>T	5.37:g.140580788G>T	ENSP00000346802:p.Gly481Cys					PCDHB11_uc011daj.1_Missense_Mutation_p.G116C	p.G481C	NM_018931	NP_061754	Q9Y5F2	PCDBB_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	1441	+			481			Extracellular (Potential).|Cadherin 5.		B4DSF7|Q2M223	Missense_Mutation	SNP	ENST00000354757.3	37	c.1441G>T	CCDS4253.1	.	.	.	.	.	.	.	.	.	.	g	15.15	2.747340	0.49257	.	.	ENSG00000197479	ENST00000536699;ENST00000354757	T;T	0.01821	4.62;4.62	2.41	2.41	0.29592	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.16471	0.0396	H	0.98111	4.15	0.09310	N	0.999999	D	0.89917	1.0	D	0.97110	1.0	T	0.06862	-1.0803	9	0.87932	D	0	.	8.258	0.31769	0.1294:0.0:0.8706:0.0	.	481	Q9Y5F2	PCDBB_HUMAN	C	116;481	ENSP00000440344:G116C;ENSP00000346802:G481C	ENSP00000346802:G481C	G	+	1	0	PCDHB11	140560972	0.187000	0.23238	0.036000	0.18154	0.136000	0.21042	2.635000	0.46537	1.348000	0.45733	0.298000	0.19748	GGC		PASS	0.632	PCDHB11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251813.1	NM_018931		83	37	83	37	---	---	---	---
PCDHGA2	56113	broad.mit.edu	37	5	140720359	140720359	+	Silent	SNP	C	C	T			TCGA-66-2756-01A-01D-1522-08	TCGA-66-2756-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	472c95e6-eccb-4988-be16-fdace73b2ed8	ff4f5936-f847-42ad-aedf-6a6a7fff6002	g.chr5:140720359C>T	ENST00000394576.2	+	1	1821	c.1821C>T	c.(1819-1821)caC>caT	p.H607H	PCDHGA1_ENST00000517417.1_Intron	NM_018915.2	NP_061738.1	Q9Y5H1	PCDG2_HUMAN	protocadherin gamma subfamily A, 2	607	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.H607H(2)		breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(32)|ovary(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGTCTTACCACCTGCTCAAGG	0.692																																						uc003ljk.1																			2	Substitution - coding silent(2)		lung(2)	skin(2)|ovary(1)	3						c.(1819-1821)CAC>CAT		protocadherin gamma subfamily A, 2 isoform 1							59.0	69.0	66.0					5																	140720359		2203	4299	6502	SO:0001819	synonymous_variant	56113				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140720359C>T	AF152508	CCDS47289.1	5q31	2011-03-28			ENSG00000081853	ENSG00000081853		"""Cadherins / Protocadherins : Clustered"""	8700	other	protocadherin		606289				10380929	Standard	NM_018915		Approved	PCDH-GAMMA-A2		Q9Y5H1	OTTHUMG00000163679	ENST00000394576.2:c.1821C>T	5.37:g.140720359C>T						PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc011dao.1_Silent_p.H607H	p.H607H	NM_018915	NP_061738	Q9Y5H1	PCDG2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	2006	+			607			Extracellular (Potential).|Cadherin 6.		Q52LL6|Q9Y5D5	Silent	SNP	ENST00000394576.2	37	c.1821C>T	CCDS47289.1																																																																																				PASS	0.692	PCDHGA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374738.1	NM_018915		19	55	19	55	---	---	---	---
PDGFRB	5159	broad.mit.edu	37	5	149503824	149503824	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2756-01A-01D-1522-08	TCGA-66-2756-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	472c95e6-eccb-4988-be16-fdace73b2ed8	ff4f5936-f847-42ad-aedf-6a6a7fff6002	g.chr5:149503824C>T	ENST00000261799.4	-	14	2481	c.2012G>A	c.(2011-2013)tGc>tAc	p.C671Y		NM_002609.3	NP_002600.1	P09619	PGFRB_HUMAN	platelet-derived growth factor receptor, beta polypeptide	671	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				adrenal gland development (GO:0030325)|aorta morphogenesis (GO:0035909)|cardiac myofibril assembly (GO:0055003)|cell chemotaxis (GO:0060326)|cell migration (GO:0016477)|cell migration involved in coronary angiogenesis (GO:0060981)|cell migration involved in vasculogenesis (GO:0035441)|cellular response to platelet-derived growth factor stimulus (GO:0036120)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G-protein coupled receptor signaling pathway (GO:0007186)|glycosaminoglycan biosynthetic process (GO:0006024)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|inner ear development (GO:0048839)|metanephric comma-shaped body morphogenesis (GO:0072278)|metanephric glomerular capillary formation (GO:0072277)|metanephric glomerular mesangial cell proliferation involved in metanephros development (GO:0072262)|metanephric mesenchymal cell migration (GO:0035789)|metanephric mesenchyme development (GO:0072075)|metanephric S-shaped body morphogenesis (GO:0072284)|negative regulation of apoptotic process (GO:0043066)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol metabolic process (GO:0046488)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|platelet-derived growth factor receptor-beta signaling pathway (GO:0035791)|positive regulation of calcium ion import (GO:0090280)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell proliferation by VEGF-activated platelet derived growth factor receptor signaling pathway (GO:0038091)|positive regulation of chemotaxis (GO:0050921)|positive regulation of collagen biosynthetic process (GO:0032967)|positive regulation of DNA biosynthetic process (GO:2000573)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of metanephric mesenchymal cell migration by platelet-derived growth factor receptor-beta signaling pathway (GO:0035793)|positive regulation of mitosis (GO:0045840)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of phospholipase C activity (GO:0010863)|positive regulation of phosphoprotein phosphatase activity (GO:0032516)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of smooth muscle cell migration (GO:0014911)|positive regulation of smooth muscle cell proliferation (GO:0048661)|protein autophosphorylation (GO:0046777)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|response to estradiol (GO:0032355)|response to fluid shear stress (GO:0034405)|response to hydrogen peroxide (GO:0042542)|response to hyperoxia (GO:0055093)|response to retinoic acid (GO:0032526)|response to toxic substance (GO:0009636)|retina vasculature development in camera-type eye (GO:0061298)|signal transduction (GO:0007165)|skeletal system morphogenesis (GO:0048705)|smooth muscle cell chemotaxis (GO:0071670)|smooth muscle tissue development (GO:0048745)|tissue homeostasis (GO:0001894)|transforming growth factor beta receptor signaling pathway (GO:0007179)|wound healing (GO:0042060)	apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intrinsic component of plasma membrane (GO:0031226)|lysosome (GO:0005764)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|platelet activating factor receptor activity (GO:0004992)|platelet-derived growth factor beta-receptor activity (GO:0005019)|platelet-derived growth factor binding (GO:0048407)|platelet-derived growth factor receptor binding (GO:0005161)|platelet-derived growth factor-activated receptor activity (GO:0005017)|protein kinase binding (GO:0019901)|protein tyrosine kinase activity (GO:0004713)|receptor binding (GO:0005102)|vascular endothelial growth factor binding (GO:0038085)	p.C671Y(1)		breast(3)|central_nervous_system(5)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(9)|kidney(3)|large_intestine(12)|lung(20)|ovary(3)|prostate(3)|skin(3)|stomach(6)|urinary_tract(1)	75		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		Becaplermin(DB00102)|Dasatinib(DB01254)|Imatinib(DB00619)|Pazopanib(DB06589)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	TCCTTTGGTGCAGGCCCCCAA	0.642			T	"""ETV6, TRIP11, HIP1, RAB5EP, H4, NIN, HCMOGT-1, PDE4DIP"""	"""MPD, AML, CMML, CML"""																																	uc003lro.2				Dom	yes		5	5q31-q32	5159	T	"""platelet-derived growth factor receptor, beta polypeptide"""			L	ETV6|TRIP11|HIP1|RAB5EP|H4|NIN|HCMOGT-1|PDE4DIP		MPD|AML|CMML|CML		1	Substitution - Missense(1)		lung(1)	central_nervous_system(4)|lung(4)|breast(3)|stomach(2)|prostate(2)|large_intestine(1)|ovary(1)	17						c.(2011-2013)TGC>TAC		platelet-derived growth factor receptor beta	Becaplermin(DB00102)|Dasatinib(DB01254)|Imatinib(DB00619)|Sorafenib(DB00398)|Sunitinib(DB01268)						70.0	57.0	61.0					5																	149503824		2203	4300	6503	SO:0001583	missense	5159				aorta morphogenesis|cardiac myofibril assembly|hemopoiesis|metanephric glomerular capillary formation|metanephric glomerular mesangial cell proliferation involved in metanephros development|peptidyl-tyrosine phosphorylation|positive regulation of calcium ion import|positive regulation of chemotaxis|positive regulation of DNA biosynthetic process|positive regulation of ERK1 and ERK2 cascade|positive regulation of MAP kinase activity|positive regulation of metanephric mesenchymal cell migration by platelet-derived growth factor receptor-beta signaling pathway|positive regulation of mitosis|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of reactive oxygen species metabolic process|positive regulation of smooth muscle cell migration|positive regulation of smooth muscle cell proliferation|protein autophosphorylation|regulation of actin cytoskeleton organization|retina vasculature development in camera-type eye|smooth muscle cell chemotaxis	apical plasma membrane|cytoplasm|integral to plasma membrane|nucleus	ATP binding|platelet activating factor receptor activity|platelet-derived growth factor beta-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|vascular endothelial growth factor receptor activity	g.chr5:149503824C>T	M21616	CCDS4303.1	5q33.1	2013-01-29			ENSG00000113721	ENSG00000113721		"""CD molecules"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	8804	protein-coding gene	gene with protein product		173410		PDGFR			Standard	XM_005268464		Approved	JTK12, CD140b, PDGFR1	uc003lro.3	P09619	OTTHUMG00000130053	ENST00000261799.4:c.2012G>A	5.37:g.149503824C>T	ENSP00000261799:p.Cys671Tyr					PDGFRB_uc010jhd.2_Missense_Mutation_p.C510Y	p.C671Y	NM_002609	NP_002600	P09619	PGFRB_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		14	2481	-		all_hematologic(541;0.224)	671			Cytoplasmic (Potential).|Protein kinase.		B5A957|Q8N5L4	Missense_Mutation	SNP	ENST00000261799.4	37	c.2012G>A	CCDS4303.1	.	.	.	.	.	.	.	.	.	.	C	27.2	4.809429	0.90707	.	.	ENSG00000113721	ENST00000261799;ENST00000544453	D	0.84442	-1.85	5.18	5.18	0.71444	Serine-threonine/tyrosine-protein kinase (1);Tyrosine-protein kinase, receptor class III, conserved site (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.56097	D	0.000028	D	0.90366	0.6985	L	0.46819	1.47	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.91373	0.5121	10	0.87932	D	0	.	18.685	0.91560	0.0:1.0:0.0:0.0	.	671;671	A8KAM8;P09619	.;PGFRB_HUMAN	Y	671;341	ENSP00000261799:C671Y	ENSP00000261799:C671Y	C	-	2	0	PDGFRB	149484017	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	7.818000	0.86416	2.397000	0.81536	0.462000	0.41574	TGC		PASS	0.642	PDGFRB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252332.1	NM_002609		20	12	20	12	---	---	---	---
ZNF300	91975	broad.mit.edu	37	5	150277688	150277688	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2756-01A-01D-1522-08	TCGA-66-2756-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	472c95e6-eccb-4988-be16-fdace73b2ed8	ff4f5936-f847-42ad-aedf-6a6a7fff6002	g.chr5:150277688C>A	ENST00000274599.5	-	5	621	c.201G>T	c.(199-201)tgG>tgT	p.W67C	ZNF300_ENST00000446148.2_Missense_Mutation_p.W83C|ZNF300_ENST00000394226.2_Missense_Mutation_p.W67C|ZNF300_ENST00000427179.1_Missense_Mutation_p.W67C|ZNF300_ENST00000418587.2_Missense_Mutation_p.W31C	NM_052860.2	NP_443092.1	Q96RE9	ZN300_HUMAN	zinc finger protein 300	67	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.W67C(1)		endometrium(4)|kidney(3)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(2)	27		Medulloblastoma(196;0.109)|all_hematologic(541;0.131)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CCTTTATGATCCATGGCTCTT	0.373																																						uc003lsy.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(199-201)TGG>TGT		zinc finger protein 300							169.0	150.0	157.0					5																	150277688		2203	4300	6503	SO:0001583	missense	91975				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr5:150277688C>A	AF395541	CCDS4311.2, CCDS54939.1, CCDS54940.1	5q33.1	2013-01-08			ENSG00000145908	ENSG00000145908		"""Zinc fingers, C2H2-type"", ""-"""	13091	protein-coding gene	gene with protein product		612429				14746915	Standard	NM_052860		Approved		uc021yfx.1	Q96RE9	OTTHUMG00000130076	ENST00000274599.5:c.201G>T	5.37:g.150277688C>A	ENSP00000274599:p.Trp67Cys					IRGM_uc011dcl.1_Intron	p.W67C	NM_052860	NP_443092	Q96RE9	ZN300_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		5	468	-		Medulloblastoma(196;0.109)|all_hematologic(541;0.131)	67			KRAB.		A8MY91|B3KU35|B4DU78|F5GWS1|Q06DQ3|Q17RP3|Q5H9N5	Missense_Mutation	SNP	ENST00000274599.5	37	c.201G>T	CCDS4311.2	.	.	.	.	.	.	.	.	.	.	C	8.902	0.956693	0.18507	.	.	ENSG00000145908	ENST00000446148;ENST00000274599;ENST00000418587;ENST00000427179;ENST00000394226	T;T;T;T;T	0.49139	0.79;0.79;2.58;0.79;0.79	3.49	1.63	0.23807	Krueppel-associated box (2);	.	.	.	.	T	0.61489	0.2351	M	0.76574	2.34	0.44454	D	0.997383	D	0.76494	0.999	D	0.77557	0.99	T	0.58047	-0.7705	9	0.54805	T	0.06	.	5.7359	0.18067	0.1931:0.6972:0.0:0.1097	.	67	Q96RE9	ZN300_HUMAN	C	83;67;31;67;67	ENSP00000397178:W83C;ENSP00000274599:W67C;ENSP00000392593:W31C;ENSP00000414195:W67C;ENSP00000377773:W67C	ENSP00000274599:W67C	W	-	3	0	ZNF300	150257881	0.869000	0.29996	0.998000	0.56505	0.907000	0.53573	1.929000	0.40114	0.283000	0.22279	-0.309000	0.09137	TGG		PASS	0.373	ZNF300-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		NM_052860		77	42	77	42	---	---	---	---
TRIM7	81786	broad.mit.edu	37	5	180625213	180625213	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2756-01A-01D-1522-08	TCGA-66-2756-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	472c95e6-eccb-4988-be16-fdace73b2ed8	ff4f5936-f847-42ad-aedf-6a6a7fff6002	g.chr5:180625213G>T	ENST00000274773.7	-	6	1055	c.994C>A	c.(994-996)Ctt>Att	p.L332I	TRIM7_ENST00000361809.3_Missense_Mutation_p.L124I|CTC-338M12.6_ENST00000511517.1_RNA|CTC-338M12.6_ENST00000509080.1_RNA|TRIM7_ENST00000422067.2_Missense_Mutation_p.L124I|TRIM7_ENST00000393319.3_Missense_Mutation_p.L150I|TRIM7_ENST00000393315.1_Missense_Mutation_p.L124I|CTC-338M12.6_ENST00000419707.2_RNA|CTC-338M12.6_ENST00000512508.1_RNA|TRIM7_ENST00000504241.1_5'UTR|CTC-338M12.6_ENST00000514784.1_RNA|CTC-338M12.6_ENST00000502812.2_RNA	NM_203293.1	NP_976038.1	Q9C029	TRIM7_HUMAN	tripartite motif containing 7	332	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.					cytoplasm (GO:0005737)|nucleus (GO:0005634)	zinc ion binding (GO:0008270)	p.L332I(2)		NS(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(6)|ovary(2)|skin(1)|stomach(1)	17	all_cancers(89;6.03e-06)|all_epithelial(37;7.1e-07)|Renal(175;0.000159)|Lung NSC(126;0.00354)|all_lung(126;0.00609)|Breast(19;0.0684)	all_cancers(40;0.000172)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_lung(500;0.0221)|all_hematologic(541;0.0433)|Lung NSC(249;0.132)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;2e-06)|Epithelial(171;1.35e-05)|OV - Ovarian serous cystadenocarcinoma(192;0.000128)|Kidney(146;0.0674)|GBM - Glioblastoma multiforme(465;0.0802)		TCTCCCCGAAGGTCCTCTGAG	0.522																																					Esophageal Squamous(128;2258 2308 35507 48647)	uc003mmz.1																			2	Substitution - Missense(2)		lung(2)	ovary(2)|skin(1)	3						c.(994-996)CTT>ATT		tripartite motif-containing 7 isoform 1							201.0	161.0	174.0					5																	180625213		2203	4300	6503	SO:0001583	missense	81786					cytoplasm|nucleus	zinc ion binding	g.chr5:180625213G>T	AF220032	CCDS4462.1, CCDS4463.1, CCDS4464.1, CCDS43414.1	5q35.3	2013-01-09	2011-01-25		ENSG00000146054	ENSG00000146054		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	16278	protein-coding gene	gene with protein product	"""glycogenin-interacting protein"", ""tripartite motif protein TRIM7"""	609315	"""tripartite motif-containing 7"""			11331580	Standard	NM_203294		Approved	RNF90, GNIP	uc003mmz.1	Q9C029	OTTHUMG00000130963	ENST00000274773.7:c.994C>A	5.37:g.180625213G>T	ENSP00000274773:p.Leu332Ile					TRIM7_uc003mmv.1_Missense_Mutation_p.L150I|TRIM7_uc003mmw.1_Missense_Mutation_p.L124I|TRIM7_uc003mmx.1_Missense_Mutation_p.L124I|TRIM7_uc003mmy.1_Missense_Mutation_p.L124I	p.L332I	NM_203293	NP_976038	Q9C029	TRIM7_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;2e-06)|Epithelial(171;1.35e-05)|OV - Ovarian serous cystadenocarcinoma(192;0.000128)|Kidney(146;0.0674)|GBM - Glioblastoma multiforme(465;0.0802)	6	1061	-	all_cancers(89;6.03e-06)|all_epithelial(37;7.1e-07)|Renal(175;0.000159)|Lung NSC(126;0.00354)|all_lung(126;0.00609)|Breast(19;0.0684)	all_cancers(40;0.000172)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_lung(500;0.0221)|all_hematologic(541;0.0433)|Lung NSC(249;0.132)|Ovarian(839;0.238)	332			B30.2/SPRY.		A2RUE4|D3DWR7|Q969F5|Q96F67|Q96J89|Q96J90	Missense_Mutation	SNP	ENST00000274773.7	37	c.994C>A	CCDS4462.1	.	.	.	.	.	.	.	.	.	.	G	13.08	2.131681	0.37630	.	.	ENSG00000146054	ENST00000274773;ENST00000393315;ENST00000361809;ENST00000393319;ENST00000422067	T;T;T;T;T	0.61510	0.55;0.14;0.14;0.1;0.14	5.22	4.34	0.51931	B30.2/SPRY domain (1);	0.330755	0.21452	N	0.074305	T	0.59702	0.2213	M	0.74647	2.275	0.33314	D	0.566401	P;P	0.38473	0.633;0.506	B;B	0.40782	0.34;0.319	T	0.71073	-0.4698	10	0.41790	T	0.15	.	11.5469	0.50698	0.0:0.0:0.8212:0.1788	.	332;150	Q9C029;Q9C029-4	TRIM7_HUMAN;.	I	332;124;124;150;124	ENSP00000274773:L332I;ENSP00000376991:L124I;ENSP00000355059:L124I;ENSP00000376994:L150I;ENSP00000391458:L124I	ENSP00000274773:L332I	L	-	1	0	TRIM7	180557819	1.000000	0.71417	0.993000	0.49108	0.008000	0.06430	3.871000	0.56077	1.313000	0.45069	-0.310000	0.09108	CTT		PASS	0.522	TRIM7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253569.3	NM_203296		23	7	23	7	---	---	---	---
KIAA0319	9856	broad.mit.edu	37	6	24564511	24564512	+	Missense_Mutation	DNP	CC	CC	AA			TCGA-66-2756-01A-01D-1522-08	TCGA-66-2756-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	472c95e6-eccb-4988-be16-fdace73b2ed8	ff4f5936-f847-42ad-aedf-6a6a7fff6002	g.chr6:24564511_24564512CC>AA	ENST00000378214.3	-	15	2873_2874	c.2349_2350GG>TT	c.(2347-2352)gaGGgg>gaTTgg	p.783_784EG>DW	KIAA0319_ENST00000543707.1_Missense_Mutation_p.783_784EG>DW|KIAA0319_ENST00000535378.1_Missense_Mutation_p.774_775EG>DW|KIAA0319_ENST00000537886.1_Missense_Mutation_p.783_784EG>DW|KIAA0319_ENST00000430948.2_Missense_Mutation_p.738_739EG>DW	NM_001168375.1|NM_014809.3	NP_001161847.1|NP_055624.2	Q5VV43	K0319_HUMAN	KIAA0319	783	PKD 5. {ECO:0000255|PROSITE- ProRule:PRU00151}.				negative regulation of dendrite development (GO:2000171)|neuron migration (GO:0001764)	early endosome (GO:0005769)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.E783D(1)|p.G784W(1)|p.E783_G784>DW(1)		breast(3)|endometrium(6)|kidney(3)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	53						GTGTACACCCCCTCCACCAGAT	0.584																																						uc011djo.1																			3	Substitution - Missense(2)|Complex - compound substitution(1)		lung(3)	ovary(1)|skin(1)	2						c.(2350-2352)GGG>TGG|c.(2347-2349)GAG>GAT		KIAA0319 precursor																																				SO:0001583	missense	9856				negative regulation of dendrite development|neuron migration	early endosome membrane|integral to membrane|plasma membrane	protein binding	g.chr6:24564511C>A|g.chr6:24564512C>A	AB002317	CCDS34348.1, CCDS54969.1, CCDS54970.1, CCDS54971.1, CCDS75409.1	6p22.3	2013-12-13			ENSG00000137261	ENSG00000137261			21580	protein-coding gene	gene with protein product	"""neuronal migration"""	609269				9205841, 15514892	Standard	NM_014809		Approved	NMIG	uc003neh.1	Q5VV43	OTTHUMG00000014358	ENST00000378214.3:c.2349_2350delinsAA	6.37:g.24564511_24564512delinsAA	ENSP00000367459:p.E783_G784delinsDW					KIAA0319_uc011djp.1_Missense_Mutation_p.G739W|KIAA0319_uc003neh.1_Missense_Mutation_p.G784W|KIAA0319_uc011djq.1_Missense_Mutation_p.G775W|KIAA0319_uc011djr.1_Missense_Mutation_p.G784W|KIAA0319_uc010jpt.1_Missense_Mutation_p.G195W|KIAA0319_uc011djp.1_Missense_Mutation_p.E738D|KIAA0319_uc003neh.1_Missense_Mutation_p.E783D|KIAA0319_uc011djq.1_Missense_Mutation_p.E774D|KIAA0319_uc011djr.1_Missense_Mutation_p.E783D|KIAA0319_uc010jpt.1_Missense_Mutation_p.E194D	p.G784W|p.E783D	NM_014809	NP_055624	Q5VV43	K0319_HUMAN			15	2587|2586	-			784|783			PKD 5.|Extracellular (Potential).		A7MD37|B2RTU7|B4DHA7|B4DK75|B7ZML3|F5H123|Q9UJC8|Q9Y4G7	Missense_Mutation	SNP	ENST00000378214.3	37	c.2350G>T|c.2349G>T	CCDS34348.1																																																																																				PASS	0.584	KIAA0319-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040009.1	NM_014809		29	18	29	18	---	---	---	---
SLC17A1	6568	broad.mit.edu	37	6	25820133	25820133	+	Missense_Mutation	SNP	T	T	C			TCGA-66-2756-01A-01D-1522-08	TCGA-66-2756-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	472c95e6-eccb-4988-be16-fdace73b2ed8	ff4f5936-f847-42ad-aedf-6a6a7fff6002	g.chr6:25820133T>C	ENST00000244527.4	-	4	333	c.218A>G	c.(217-219)tAt>tGt	p.Y73C	SLC17A1_ENST00000468082.1_Missense_Mutation_p.Y73C|SLC17A1_ENST00000427328.1_Missense_Mutation_p.Y73C|SLC17A1_ENST00000476801.1_Missense_Mutation_p.Y73C	NM_005074.3	NP_005065.2	Q14916	NPT1_HUMAN	solute carrier family 17 (organic anion transporter), member 1	73					ion transport (GO:0006811)|phosphate ion transport (GO:0006817)|sodium ion transport (GO:0006814)|sodium-dependent phosphate transport (GO:0044341)|transmembrane transport (GO:0055085)|urate metabolic process (GO:0046415)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	sodium-dependent phosphate transmembrane transporter activity (GO:0015321)|symporter activity (GO:0015293)	p.Y73C(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(14)|ovary(3)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	36						GCTCCAATTATACATAGGGTT	0.423																																						uc003nfh.3																			1	Substitution - Missense(1)		lung(1)	ovary(3)|pancreas(1)	4						c.(217-219)TAT>TGT		solute carrier family 17 (sodium phosphate),							60.0	64.0	63.0					6																	25820133		2201	4300	6501	SO:0001583	missense	6568				sodium ion transport|urate metabolic process	integral to plasma membrane|membrane fraction	sodium-dependent phosphate transmembrane transporter activity|symporter activity	g.chr6:25820133T>C		CCDS4565.1	6p22.2	2013-07-18	2013-07-18		ENSG00000124568	ENSG00000124568		"""Solute carriers"""	10929	protein-coding gene	gene with protein product		182308	"""solute carrier family 17 (sodium phosphate), member 1"""	NPT1		8288239	Standard	NM_005074		Approved	NAPI-1	uc003nfh.4	Q14916	OTTHUMG00000016297	ENST00000244527.4:c.218A>G	6.37:g.25820133T>C	ENSP00000244527:p.Tyr73Cys					SLC17A1_uc011djy.1_RNA|SLC17A1_uc010jqb.1_Missense_Mutation_p.Y71C|SLC17A1_uc010jqc.1_Missense_Mutation_p.Y71C	p.Y73C	NM_005074	NP_005065	Q14916	NPT1_HUMAN			4	334	-			73					A8K418|O60761|Q13783|Q3MIP5|Q5MJP8|Q5TB83|Q96KL8	Missense_Mutation	SNP	ENST00000244527.4	37	c.218A>G	CCDS4565.1	.	.	.	.	.	.	.	.	.	.	T	12.28	1.891824	0.33442	.	.	ENSG00000124568	ENST00000244527;ENST00000427328;ENST00000476801;ENST00000468082	T;T;T;T	0.59772	0.24;0.24;0.24;0.24	4.33	4.33	0.51752	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.000000	0.41823	D	0.000818	T	0.67183	0.2866	M	0.89715	3.055	0.24876	N	0.992255	P;D	0.63880	0.862;0.993	P;P	0.60012	0.573;0.867	T	0.63897	-0.6533	10	0.87932	D	0	.	10.081	0.42391	0.0:0.0:0.0:1.0	.	73;73	Q14916-2;Q14916	.;NPT1_HUMAN	C	73	ENSP00000244527:Y73C;ENSP00000410549:Y73C;ENSP00000420614:Y73C;ENSP00000420546:Y73C	ENSP00000244527:Y73C	Y	-	2	0	SLC17A1	25928112	0.997000	0.39634	0.303000	0.25071	0.318000	0.28184	4.587000	0.60991	1.961000	0.56991	0.528000	0.53228	TAT		PASS	0.423	SLC17A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043647.2			68	25	68	25	---	---	---	---
ZBED9	114821	broad.mit.edu	37	6	28543354	28543354	+	Silent	SNP	T	T	C			TCGA-66-2756-01A-01D-1522-08	TCGA-66-2756-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	472c95e6-eccb-4988-be16-fdace73b2ed8	ff4f5936-f847-42ad-aedf-6a6a7fff6002	g.chr6:28543354T>C	ENST00000452236.2	-	3	1745	c.1128A>G	c.(1126-1128)caA>caG	p.Q376Q	SCAND3_ENST00000530247.1_5'Flank	NM_052923.1	NP_443155.1												p.Q376Q(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						TAAGATCTACTTGGCATCTTG	0.348																																						uc003nlo.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(1126-1128)CAA>CAG		SCAN domain containing 3							107.0	111.0	110.0					6																	28543354		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.chr6:28543354T>C																												ENST00000452236.2:c.1128A>G	6.37:g.28543354T>C							p.Q376Q	NM_052923	NP_443155	Q6R2W3	SCND3_HUMAN			3	1746	-			376			Integrase catalytic.			Silent	SNP	ENST00000452236.2	37	c.1128A>G	CCDS34355.1																																																																																				PASS	0.348	SCAND3-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000043551.3			166	48	166	48	---	---	---	---
ZNF311	282890	broad.mit.edu	37	6	28962925	28962926	+	Missense_Mutation	DNP	TT	TT	AG			TCGA-66-2756-01A-01D-1522-08	TCGA-66-2756-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	472c95e6-eccb-4988-be16-fdace73b2ed8	ff4f5936-f847-42ad-aedf-6a6a7fff6002	g.chr6:28962925_28962926TT>AG	ENST00000377179.3	-	7	2365_2366	c.1853_1854AA>CT	c.(1852-1854)aAA>aCT	p.K618T	ZNF311_ENST00000483450.1_5'UTR	NM_001010877.2	NP_001010877.2	Q5JNZ3	ZN311_HUMAN	zinc finger protein 311	618					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.K618T(2)|p.K618N(1)		NS(1)|breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(11)|skin(3)|upper_aerodigestive_tract(2)	28						CTCTAAAAGCTTTTCCACATTC	0.45																																						uc003nlu.2																			3	Substitution - Missense(3)		lung(3)		0						c.(1852-1854)AAA>AAT|c.(1852-1854)AAA>ACA		zinc finger protein 311																																				SO:0001583	missense	282890				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding	g.chr6:28962925T>A|g.chr6:28962926T>G	AL833166	CCDS34357.1	6p21.33	2013-01-08			ENSG00000197935	ENSG00000197935		"""Zinc fingers, C2H2-type"", ""-"""	13847	protein-coding gene	gene with protein product							Standard	XM_006715067		Approved		uc003nlu.2	Q5JNZ3	OTTHUMG00000031292	ENST00000377179.3:c.1853_1854delinsAG	6.37:g.28962925_28962926delinsAG	ENSP00000366384:p.Lys618Thr					ZNF311_uc011dlk.1_Missense_Mutation_p.K526N|ZNF311_uc003nlv.2_Missense_Mutation_p.K526N|ZNF311_uc011dlk.1_Missense_Mutation_p.K526T|ZNF311_uc003nlv.2_Missense_Mutation_p.K526T	p.K618N|p.K618T	NM_001010877	NP_001010877	Q5JNZ3	ZN311_HUMAN			7	2367|2366	-			618			C2H2-type 14.		A2BFK5|B0S7Y4|Q92971	Missense_Mutation	SNP	ENST00000377179.3	37	c.1854A>T|c.1853A>C	CCDS34357.1																																																																																				PASS	0.450	ZNF311-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076631.3	XM_212581		94	29|30	94	29	---	---	---	---
MDC1	9656	broad.mit.edu	37	6	30672713	30672713	+	Missense_Mutation	SNP	G	G	A			TCGA-66-2756-01A-01D-1522-08	TCGA-66-2756-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	472c95e6-eccb-4988-be16-fdace73b2ed8	ff4f5936-f847-42ad-aedf-6a6a7fff6002	g.chr6:30672713G>A	ENST00000376406.3	-	10	4894	c.4247C>T	c.(4246-4248)cCt>cTt	p.P1416L	MDC1_ENST00000376405.2_Missense_Mutation_p.P1152L|MDC1-AS1_ENST00000442150.1_RNA	NM_014641.2	NP_055456.2	Q14676	MDC1_HUMAN	mediator of DNA-damage checkpoint 1	1416	Interaction with the PRKDC complex.|Pro-rich.				DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|intra-S DNA damage checkpoint (GO:0031573)	chromosome (GO:0005694)|focal adhesion (GO:0005925)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	FHA domain binding (GO:0070975)|protein C-terminus binding (GO:0008022)	p.P1416L(1)		breast(2)|kidney(1)|ovary(1)	4						GGAAGTGGAAGGCTCGAGCTT	0.557								Other conserved DNA damage response genes																														uc003nrg.3																			1	Substitution - Missense(1)		lung(1)	breast(2)|ovary(1)|kidney(1)	4						c.(4246-4248)CCT>CTT	Other_conserved_DNA_damage_response_genes	mediator of DNA-damage checkpoint 1							93.0	101.0	98.0					6																	30672713		2203	4300	6503	SO:0001583	missense	9656				cell cycle|double-strand break repair via homologous recombination|intra-S DNA damage checkpoint	focal adhesion|nucleoplasm	FHA domain binding|protein C-terminus binding	g.chr6:30672713G>A	D79992	CCDS34384.1	6p21.3	2010-02-17	2009-06-12		ENSG00000137337	ENSG00000137337			21163	protein-coding gene	gene with protein product		607593				10975465, 12607005	Standard	NM_014641		Approved	NFBD1, KIAA0170, Em:AB023051.5	uc003nrg.4	Q14676	OTTHUMG00000031075	ENST00000376406.3:c.4247C>T	6.37:g.30672713G>A	ENSP00000365588:p.Pro1416Leu					MDC1_uc003nrf.3_Intron|MDC1_uc011dmp.1_Missense_Mutation_p.P1023L	p.P1416L	NM_014641	NP_055456	Q14676	MDC1_HUMAN			10	4687	-			1416			Pro-rich.|Interaction with the PRKDC complex.		A2AB04|A2BF04|A2RRA8|A7YY86|B0S8A2|Q0EFC2|Q2L6H7|Q2TAZ4|Q5JP55|Q5JP56|Q5ST83|Q68CQ3|Q86Z06|Q96QC2	Missense_Mutation	SNP	ENST00000376406.3	37	c.4247C>T	CCDS34384.1	.	.	.	.	.	.	.	.	.	.	G	10.16	1.274636	0.23307	.	.	ENSG00000137337	ENST00000376406;ENST00000376405;ENST00000429610;ENST00000422104	T;T	0.13778	2.56;2.56	3.43	1.58	0.23477	.	0.257199	0.20604	N	0.089100	T	0.04452	0.0122	M	0.65975	2.015	0.09310	N	1	B;P	0.41366	0.291;0.747	B;B	0.33799	0.049;0.17	T	0.26430	-1.0103	10	0.54805	T	0.06	-4.3427	5.6204	0.17453	0.2652:0.0:0.7348:0.0	.	1152;1416	Q14676-2;Q14676	.;MDC1_HUMAN	L	1416;1152;1129;982	ENSP00000365588:P1416L;ENSP00000365587:P1152L	ENSP00000365587:P1152L	P	-	2	0	MDC1	30780692	0.016000	0.18221	0.005000	0.12908	0.008000	0.06430	1.917000	0.39996	0.263000	0.21812	0.298000	0.19748	CCT		PASS	0.557	MDC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000076103.1	NM_014641		153	28	153	28	---	---	---	---
ZNF318	24149	broad.mit.edu	37	6	43322911	43322911	+	Missense_Mutation	SNP	G	G	A			TCGA-66-2756-01A-01D-1522-08	TCGA-66-2756-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	472c95e6-eccb-4988-be16-fdace73b2ed8	ff4f5936-f847-42ad-aedf-6a6a7fff6002	g.chr6:43322911G>A	ENST00000361428.2	-	4	2238	c.2161C>T	c.(2161-2163)Cat>Tat	p.H721Y	ZNF318_ENST00000318149.3_Missense_Mutation_p.H721Y	NM_014345.2	NP_055160.2	Q5VUA4	ZN318_HUMAN	zinc finger protein 318	721					meiotic nuclear division (GO:0007126)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)	p.H721Y(1)		autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(21)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	61			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0171)|OV - Ovarian serous cystadenocarcinoma(102;0.0579)			CCTGAAATATGACCCACTGGA	0.517																																						uc003oux.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|breast(2)|central_nervous_system(1)|skin(1)	7						c.(2161-2163)CAT>TAT		zinc finger protein 318							104.0	97.0	100.0					6																	43322911		2203	4300	6503	SO:0001583	missense	24149				meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|zinc ion binding	g.chr6:43322911G>A	AF090114	CCDS4895.2	6p21.1	2013-09-19			ENSG00000171467	ENSG00000171467		"""Zinc fingers, C2H2-type"""	13578	protein-coding gene	gene with protein product						10873617	Standard	NM_014345		Approved	HRIHFB2436, ZFP318	uc003oux.3	Q5VUA4	OTTHUMG00000014732	ENST00000361428.2:c.2161C>T	6.37:g.43322911G>A	ENSP00000354964:p.His721Tyr					ZNF318_uc003ouw.2_RNA	p.H721Y	NM_014345	NP_055160	Q5VUA4	ZN318_HUMAN	Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0171)|OV - Ovarian serous cystadenocarcinoma(102;0.0579)		4	2239	-			721					O94796|Q4G0E4|Q8NEM6|Q9UNU8|Q9Y2W9	Missense_Mutation	SNP	ENST00000361428.2	37	c.2161C>T	CCDS4895.2	.	.	.	.	.	.	.	.	.	.	G	14.40	2.524084	0.44866	.	.	ENSG00000171467	ENST00000318149;ENST00000361428	T;T	0.31769	1.48;2.69	6.17	6.17	0.99709	.	0.494207	0.23413	N	0.048446	T	0.18130	0.0435	N	0.14661	0.345	0.35963	D	0.834751	D	0.58268	0.982	P	0.50708	0.648	T	0.02173	-1.1201	10	0.39692	T	0.17	-3.9357	15.4463	0.75232	0.0:0.0:0.8297:0.1703	.	721	Q5VUA4	ZN318_HUMAN	Y	721	ENSP00000323032:H721Y;ENSP00000354964:H721Y	ENSP00000323032:H721Y	H	-	1	0	ZNF318	43430889	0.677000	0.27577	1.000000	0.80357	0.984000	0.73092	2.142000	0.42177	2.941000	0.99782	0.655000	0.94253	CAT		PASS	0.517	ZNF318-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040601.2	NM_014345		57	16	57	16	---	---	---	---
BMP5	653	broad.mit.edu	37	6	55638864	55638864	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2756-01A-01D-1522-08	TCGA-66-2756-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	472c95e6-eccb-4988-be16-fdace73b2ed8	ff4f5936-f847-42ad-aedf-6a6a7fff6002	g.chr6:55638864C>G	ENST00000370830.3	-	4	1708	c.1010G>C	c.(1009-1011)aGa>aCa	p.R337T	BMP5_ENST00000446683.2_Missense_Mutation_p.R337T	NM_021073.2	NP_066551.1	P22003	BMP5_HUMAN	bone morphogenetic protein 5	337					cartilage development (GO:0051216)|growth (GO:0040007)|male genitalia development (GO:0030539)|negative regulation of aldosterone biosynthetic process (GO:0032348)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cortisol biosynthetic process (GO:2000065)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of insulin-like growth factor receptor signaling pathway (GO:0043569)|negative regulation of mononuclear cell migration (GO:0071676)|negative regulation of steroid biosynthetic process (GO:0010894)|ossification (GO:0001503)|pattern specification process (GO:0007389)|positive regulation of dendrite development (GO:1900006)|positive regulation of DNA-dependent DNA replication (GO:2000105)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|skeletal system development (GO:0001501)|type B pancreatic cell development (GO:0003323)	extracellular space (GO:0005615)|membrane-bounded vesicle (GO:0031988)	BMP receptor binding (GO:0070700)	p.R337T(1)		cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(6)|lung(19)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)	45	Lung NSC(77;0.0462)		LUSC - Lung squamous cell carcinoma(124;0.181)			ACTGGACATTCTGGAGGAGTC	0.448																																						uc003pcq.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(1009-1011)AGA>ACA		bone morphogenetic protein 5 preproprotein							151.0	132.0	139.0					6																	55638864		2203	4299	6502	SO:0001583	missense	653				cartilage development|cell differentiation|growth|ossification	extracellular space	BMP receptor binding|cytokine activity|growth factor activity	g.chr6:55638864C>G		CCDS4958.1	6p12.1	2014-01-30			ENSG00000112175	ENSG00000112175		"""Bone morphogenetic proteins"", ""Endogenous ligands"""	1072	protein-coding gene	gene with protein product		112265				1427904, 11580864	Standard	NM_021073		Approved		uc003pcq.3	P22003	OTTHUMG00000014903	ENST00000370830.3:c.1010G>C	6.37:g.55638864C>G	ENSP00000359866:p.Arg337Thr					BMP5_uc011dxf.1_Missense_Mutation_p.R337T	p.R337T	NM_021073	NP_066551	P22003	BMP5_HUMAN	LUSC - Lung squamous cell carcinoma(124;0.181)		4	1722	-	Lung NSC(77;0.0462)		337					B4E0Y4|Q9H547|Q9NTM5	Missense_Mutation	SNP	ENST00000370830.3	37	c.1010G>C	CCDS4958.1	.	.	.	.	.	.	.	.	.	.	C	19.56	3.850395	0.71719	.	.	ENSG00000112175	ENST00000370830;ENST00000446683	T;T	0.74421	-0.84;-0.54	5.74	5.74	0.90152	Transforming growth factor-beta, C-terminal (1);	0.244486	0.47093	D	0.000259	T	0.71693	0.3370	L	0.34521	1.04	0.46336	D	0.998999	P;P	0.48640	0.913;0.913	P;P	0.52823	0.71;0.71	T	0.74731	-0.3566	10	0.66056	D	0.02	.	19.9351	0.97137	0.0:1.0:0.0:0.0	.	337;337	B4E0Y4;P22003	.;BMP5_HUMAN	T	337	ENSP00000359866:R337T;ENSP00000391818:R337T	ENSP00000359866:R337T	R	-	2	0	BMP5	55746823	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	1.750000	0.38329	2.703000	0.92315	0.655000	0.94253	AGA		PASS	0.448	BMP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041000.1			18	161	18	161	---	---	---	---
COL9A1	1297	broad.mit.edu	37	6	71004007	71004007	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2756-01A-01D-1522-08	TCGA-66-2756-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	472c95e6-eccb-4988-be16-fdace73b2ed8	ff4f5936-f847-42ad-aedf-6a6a7fff6002	g.chr6:71004007C>A	ENST00000357250.6	-	5	717	c.559G>T	c.(559-561)Gtg>Ttg	p.V187L	COL9A1_ENST00000370496.3_Missense_Mutation_p.V187L	NM_001851.4	NP_001842.3	P20849	CO9A1_HUMAN	collagen, type IX, alpha 1	187	Laminin G-like.|Nonhelical region (NC4).				axon guidance (GO:0007411)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|growth plate cartilage development (GO:0003417)|organ morphogenesis (GO:0009887)|tissue homeostasis (GO:0001894)	collagen type IX trimer (GO:0005594)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent conferring tensile strength (GO:0030020)|metal ion binding (GO:0046872)	p.V187L(1)		breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(44)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)	80						CTCCTCTCCACGCCAATCATG	0.433																																						uc003pfg.3																			1	Substitution - Missense(1)		lung(1)	ovary(4)	4						c.(559-561)GTG>TTG		alpha 1 type IX collagen isoform 1 precursor							135.0	131.0	132.0					6																	71004007		2203	4300	6503	SO:0001583	missense	1297				axon guidance|cell adhesion|organ morphogenesis	collagen type IX	metal ion binding	g.chr6:71004007C>A		CCDS4971.1, CCDS47447.1	6q13	2013-05-07			ENSG00000112280	ENSG00000112280		"""Proteoglycans / Extracellular Matrix : Collagen proteoglycans"", ""Collagens"""	2217	protein-coding gene	gene with protein product		120210				1429648	Standard	NM_001851		Approved		uc003pfg.4	P20849	OTTHUMG00000014988	ENST00000357250.6:c.559G>T	6.37:g.71004007C>A	ENSP00000349790:p.Val187Leu						p.V187L	NM_001851	NP_001842	P20849	CO9A1_HUMAN			5	718	-			187			Nonhelical region (NC4).|TSP N-terminal.		Q13699|Q13700|Q5TF52|Q6P467|Q96BM8|Q99225|Q9H151|Q9H152|Q9Y6P2|Q9Y6P3	Missense_Mutation	SNP	ENST00000357250.6	37	c.559G>T	CCDS4971.1	.	.	.	.	.	.	.	.	.	.	C	20.7	4.039061	0.75617	.	.	ENSG00000112280	ENST00000357250;ENST00000370496	T;T	0.02916	4.11;4.11	5.77	5.77	0.91146	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G, thrombospondin-type, N-terminal (1);	0.000000	0.64402	D	0.000001	T	0.04907	0.0132	M	0.79258	2.445	0.80722	D	1	D	0.56035	0.974	P	0.47705	0.555	T	0.06899	-1.0801	10	0.66056	D	0.02	.	14.5133	0.67802	0.0:0.9299:0.0:0.0701	.	187	P20849	CO9A1_HUMAN	L	187	ENSP00000349790:V187L;ENSP00000359527:V187L	ENSP00000349790:V187L	V	-	1	0	COL9A1	71060728	0.997000	0.39634	0.996000	0.52242	0.863000	0.49368	3.594000	0.54008	2.890000	0.99128	0.650000	0.86243	GTG		PASS	0.433	COL9A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041131.2			90	112	90	112	---	---	---	---
TTK	7272	broad.mit.edu	37	6	80737728	80737728	+	Splice_Site	SNP	G	G	T			TCGA-66-2756-01A-01D-1522-08	TCGA-66-2756-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	472c95e6-eccb-4988-be16-fdace73b2ed8	ff4f5936-f847-42ad-aedf-6a6a7fff6002	g.chr6:80737728G>T	ENST00000369798.2	+	13	1632	c.1521G>T	c.(1519-1521)caG>caT	p.Q507H	TTK_ENST00000509894.1_Splice_Site_p.Q506H|TTK_ENST00000230510.3_Splice_Site_p.Q506H	NM_001166691.1|NM_003318.4	NP_001160163.1|NP_003309.2	P33981	TTK_HUMAN	TTK protein kinase	507					chromosome separation (GO:0051304)|mitotic spindle assembly checkpoint (GO:0007094)|mitotic spindle organization (GO:0007052)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cell proliferation (GO:0008284)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|spindle organization (GO:0007051)	membrane (GO:0016020)|spindle (GO:0005819)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)	p.Q507H(1)|p.Q491H(1)		endometrium(4)|kidney(2)|large_intestine(12)|lung(22)|ovary(7)|pancreas(1)|prostate(1)|stomach(3)|urinary_tract(1)	53		all_cancers(76;0.00177)|Acute lymphoblastic leukemia(125;1.24e-05)|all_hematologic(105;0.00223)|all_epithelial(107;0.2)		BRCA - Breast invasive adenocarcinoma(397;0.0321)		AAAATTTACAGGTTCGATAAG	0.373																																						uc003pjc.2																			2	Substitution - Missense(2)		lung(2)	ovary(4)|stomach(2)|lung(2)|large_intestine(2)|pancreas(1)	11						c.(1519-1521)CAG>CAT		TTK protein kinase							91.0	86.0	88.0					6																	80737728		2203	4300	6503	SO:0001630	splice_region_variant	7272				mitotic cell cycle spindle assembly checkpoint|mitotic spindle organization|positive regulation of cell proliferation|positive regulation of pathway-restricted SMAD protein phosphorylation	spindle	ATP binding|identical protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr6:80737728G>T		CCDS4993.1, CCDS55040.1	6q14.1	2014-04-07			ENSG00000112742	ENSG00000112742			12401	protein-coding gene	gene with protein product	"""cancer/testis antigen 96"", ""monopolar spindle 1 kinase"""	604092				1639825	Standard	NM_003318		Approved	MPS1, MPS1L1, CT96, MPH1	uc003pjc.3	P33981	OTTHUMG00000015088	ENST00000369798.2:c.1521+1G>T	6.37:g.80737728G>T						TTK_uc003pjb.3_Missense_Mutation_p.Q506H	p.Q507H	NM_003318	NP_003309	P33981	TTK_HUMAN		BRCA - Breast invasive adenocarcinoma(397;0.0321)	13	1595	+		all_cancers(76;0.00177)|Acute lymphoblastic leukemia(125;1.24e-05)|all_hematologic(105;0.00223)|all_epithelial(107;0.2)	507					A8K8U5|B2RDW2|E1P543|Q15272|Q5TCS0|Q9BW51|Q9NTM0	Missense_Mutation	SNP	ENST00000369798.2	37	c.1521G>T	CCDS4993.1	.	.	.	.	.	.	.	.	.	.	G	11.86	1.763899	0.31228	.	.	ENSG00000112742	ENST00000509894;ENST00000230510;ENST00000369798	T;T;T	0.69685	-0.4;-0.4;-0.42	5.87	5.87	0.94306	.	0.123604	0.56097	D	0.000026	T	0.73273	0.3566	M	0.62723	1.935	0.45747	D	0.998641	D;D	0.64830	0.994;0.994	P;P	0.62813	0.864;0.907	T	0.73439	-0.3982	10	0.51188	T	0.08	.	15.7193	0.77694	0.0:0.0:1.0:0.0	.	507;506	P33981;A8K8U5	TTK_HUMAN;.	H	506;506;507	ENSP00000422936:Q506H;ENSP00000230510:Q506H;ENSP00000358813:Q507H	ENSP00000230510:Q506H	Q	+	3	2	TTK	80794447	1.000000	0.71417	1.000000	0.80357	0.107000	0.19398	5.445000	0.66594	2.780000	0.95670	0.655000	0.94253	CAG		PASS	0.373	TTK-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000041316.2		Missense_Mutation	34	33	34	33	---	---	---	---
FAM46A	55603	broad.mit.edu	37	6	82461468	82461468	+	Nonsense_Mutation	SNP	G	G	A			TCGA-66-2756-01A-01D-1522-08	TCGA-66-2756-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	472c95e6-eccb-4988-be16-fdace73b2ed8	ff4f5936-f847-42ad-aedf-6a6a7fff6002	g.chr6:82461468G>A	ENST00000320172.6	-	2	705	c.391C>T	c.(391-393)Cag>Tag	p.Q131*	FAM46A_ENST00000369756.3_Nonsense_Mutation_p.Q212*|FAM46A_ENST00000369754.3_Nonsense_Mutation_p.Q150*	NM_017633.2	NP_060103.2	Q96IP4	FA46A_HUMAN	family with sequence similarity 46, member A	131					regulation of blood coagulation (GO:0030193)|regulation of gene expression (GO:0010468)		poly(A) RNA binding (GO:0044822)	p.Q131*(1)		endometrium(2)|large_intestine(3)|lung(5)|skin(1)|urinary_tract(1)	12		all_cancers(76;6.74e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000282)|all_epithelial(107;0.0104)		BRCA - Breast invasive adenocarcinoma(397;0.0428)		CCGCTGTCCTGGTGCAGGACA	0.667																																						uc003pjg.2																			1	Substitution - Nonsense(1)		lung(1)		0						c.(391-393)CAG>TAG		hypothetical protein LOC55603							39.0	40.0	39.0					6																	82461468		2202	4300	6502	SO:0001587	stop_gained	55603							g.chr6:82461468G>A	AF350451	CCDS34489.1	6q14	2008-07-03	2004-08-19	2004-08-26	ENSG00000112773	ENSG00000112773			18345	protein-coding gene	gene with protein product		611357	"""chromosome 6 open reading frame 37"""	C6orf37		12054608, 17803723	Standard	NM_017633		Approved	FLJ20037	uc003pjg.3	Q96IP4	OTTHUMG00000015097	ENST00000320172.6:c.391C>T	6.37:g.82461468G>A	ENSP00000318298:p.Gln131*					FAM46A_uc003pjf.2_Nonsense_Mutation_p.Q150*|FAM46A_uc003pjh.1_Nonsense_Mutation_p.Q131*	p.Q131*	NM_017633	NP_060103	Q96IP4	FA46A_HUMAN		BRCA - Breast invasive adenocarcinoma(397;0.0428)	2	709	-		all_cancers(76;6.74e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000282)|all_epithelial(107;0.0104)	131					A8K7U4|Q5TF86|Q8NFZ9|Q9BW32|Q9NXV5	Nonsense_Mutation	SNP	ENST00000320172.6	37	c.391C>T	CCDS34489.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	26.3|26.3	4.728890|4.728890	0.89390|0.89390	.|.	.|.	ENSG00000112773|ENSG00000112773	ENST00000412306|ENST00000369754;ENST00000320172;ENST00000369756	.|.	.|.	.|.	5.38|5.38	4.5|4.5	0.54988|0.54988	.|.	.|0.437596	.|0.27122	.|N	.|0.020839	T|.	0.14570|.	0.0352|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.05451|.	-1.0884|.	3|.	.|0.07175	.|T	.|0.84	-5.0973|-5.0973	10.9117|10.9117	0.47112|0.47112	0.0:0.1411:0.7123:0.1466|0.0:0.1411:0.7123:0.1466	.|.	.|.	.|.	.|.	L|X	21|150;131;212	.|.	.|ENSP00000318298:Q131X	P|Q	-|-	2|1	0|0	FAM46A|FAM46A	82518187|82518187	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.432000|0.432000	0.31715|0.31715	5.530000|5.530000	0.67141|0.67141	1.474000|1.474000	0.48178|0.48178	-0.311000|-0.311000	0.09066|0.09066	CCA|CAG		PASS	0.667	FAM46A-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000041331.1			26	25	26	25	---	---	---	---
MDN1	23195	broad.mit.edu	37	6	90415838	90415838	+	Silent	SNP	T	T	A			TCGA-66-2756-01A-01D-1522-08	TCGA-66-2756-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	472c95e6-eccb-4988-be16-fdace73b2ed8	ff4f5936-f847-42ad-aedf-6a6a7fff6002	g.chr6:90415838T>A	ENST00000369393.3	-	53	8203	c.8088A>T	c.(8086-8088)gcA>gcT	p.A2696A	MDN1_ENST00000428876.1_Silent_p.A2696A			Q9NU22	MDN1_HUMAN	MDN1, midasin homolog (yeast)	2696					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.A2696A(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)		GCAGGACTAGTGCATCACAAA	0.408																																						uc003pnn.1																			1	Substitution - coding silent(1)		lung(1)	ovary(8)|skin(2)	10						c.(8086-8088)GCA>GCT		MDN1, midasin homolog							98.0	91.0	94.0					6																	90415838		2203	4300	6503	SO:0001819	synonymous_variant	23195				protein complex assembly|regulation of protein complex assembly	nucleus	ATP binding|ATPase activity|unfolded protein binding	g.chr6:90415838T>A	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.8088A>T	6.37:g.90415838T>A							p.A2696A	NM_014611	NP_055426	Q9NU22	MDN1_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0193)	53	8204	-		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)	2696					O15019|Q5T794	Silent	SNP	ENST00000369393.3	37	c.8088A>T	CCDS5024.1																																																																																				PASS	0.408	MDN1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041514.2			39	39	39	39	---	---	---	---
FUT9	10690	broad.mit.edu	37	6	96652006	96652006	+	Missense_Mutation	SNP	T	T	A			TCGA-66-2756-01A-01D-1522-08	TCGA-66-2756-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	472c95e6-eccb-4988-be16-fdace73b2ed8	ff4f5936-f847-42ad-aedf-6a6a7fff6002	g.chr6:96652006T>A	ENST00000302103.5	+	3	1301	c.975T>A	c.(973-975)aaT>aaA	p.N325K		NM_006581.3	NP_006572.2	Q9Y231	FUT9_HUMAN	fucosyltransferase 9 (alpha (1,3) fucosyltransferase)	325					carbohydrate metabolic process (GO:0005975)|fucosylation (GO:0036065)|L-fucose catabolic process (GO:0042355)|nervous system development (GO:0007399)|protein glycosylation (GO:0006486)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	alpha-(1->3)-fucosyltransferase activity (GO:0046920)|fucosyltransferase activity (GO:0008417)	p.N325K(1)		NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(6)|liver(2)|lung(10)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(2)	34		all_cancers(76;4.77e-07)|Acute lymphoblastic leukemia(125;4.01e-09)|all_hematologic(75;1.25e-06)|all_epithelial(107;0.00279)|Colorectal(196;0.0356)		BRCA - Breast invasive adenocarcinoma(108;0.08)		TCACTGTAAATCTTCCACGAT	0.368																																					Melanoma(98;1369 1476 6592 22940 26587)	uc003pop.3																			1	Substitution - Missense(1)		lung(1)	skin(4)|ovary(1)	5						c.(973-975)AAT>AAA		fucosyltransferase 9 (alpha (1,3)							92.0	93.0	92.0					6																	96652006		2203	4300	6503	SO:0001583	missense	10690				L-fucose catabolic process|protein glycosylation	Golgi cisterna membrane|integral to membrane	alpha(1,3)-fucosyltransferase activity	g.chr6:96652006T>A	AB023021	CCDS5033.1	6q16	2013-02-26			ENSG00000172461	ENSG00000172461		"""Fucosyltransferases"""	4020	protein-coding gene	gene with protein product		606865				10386598, 10575236	Standard	NM_006581		Approved	Fuc-TIX	uc003pop.4	Q9Y231	OTTHUMG00000015236	ENST00000302103.5:c.975T>A	6.37:g.96652006T>A	ENSP00000302599:p.Asn325Lys						p.N325K	NM_006581	NP_006572	Q9Y231	FUT9_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.08)	3	1316	+		all_cancers(76;4.77e-07)|Acute lymphoblastic leukemia(125;4.01e-09)|all_hematologic(75;1.25e-06)|all_epithelial(107;0.00279)|Colorectal(196;0.0356)	325			Lumenal (Potential).		Q5T0W4	Missense_Mutation	SNP	ENST00000302103.5	37	c.975T>A	CCDS5033.1	.	.	.	.	.	.	.	.	.	.	T	0.432	-0.902747	0.02453	.	.	ENSG00000172461	ENST00000302103	T	0.20881	2.04	5.5	-0.133	0.13485	.	0.306697	0.38663	N	0.001620	T	0.01254	0.0041	N	0.01267	-0.92	0.27273	N	0.958314	B	0.02656	0.0	B	0.06405	0.002	T	0.45338	-0.9268	10	0.05620	T	0.96	-11.6495	8.9316	0.35675	0.0:0.3653:0.0:0.6347	.	325	Q9Y231	FUT9_HUMAN	K	325	ENSP00000302599:N325K	ENSP00000302599:N325K	N	+	3	2	FUT9	96758727	1.000000	0.71417	0.998000	0.56505	0.994000	0.84299	0.745000	0.26259	-0.020000	0.14032	0.383000	0.25322	AAT		PASS	0.368	FUT9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041554.2	NM_006581		30	102	30	102	---	---	---	---
BEND3	57673	broad.mit.edu	37	6	107391664	107391664	+	Missense_Mutation	SNP	G	G	A			TCGA-66-2756-01A-01D-1522-08	TCGA-66-2756-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	472c95e6-eccb-4988-be16-fdace73b2ed8	ff4f5936-f847-42ad-aedf-6a6a7fff6002	g.chr6:107391664G>A	ENST00000369042.1	-	4	921	c.731C>T	c.(730-732)cCt>cTt	p.P244L	BEND3_ENST00000429433.2_Missense_Mutation_p.P244L			Q5T5X7	BEND3_HUMAN	BEN domain containing 3	244	BEN 1. {ECO:0000255|PROSITE- ProRule:PRU00784}.							p.P244L(1)		central_nervous_system(1)|cervix(2)|endometrium(3)|large_intestine(7)|lung(10)|ovary(4)|prostate(3)	30						CTGGTACTCAGGGGGCGGCTG	0.637																																						uc003prs.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)	3						c.(730-732)CCT>CTT		BEN domain containing 3							47.0	41.0	43.0					6																	107391664		2203	4300	6503	SO:0001583	missense	57673							g.chr6:107391664G>A	AB046773	CCDS34507.1	6q21	2012-11-22	2008-10-03	2008-10-03	ENSG00000178409	ENSG00000178409		"""BEN domain containing"""	23040	protein-coding gene	gene with protein product			"""KIAA1553"""	KIAA1553			Standard	NM_001080450		Approved		uc003prs.2	Q5T5X7	OTTHUMG00000015308	ENST00000369042.1:c.731C>T	6.37:g.107391664G>A	ENSP00000358038:p.Pro244Leu						p.P244L	NM_001080450	NP_001073919	Q5T5X7	BEND3_HUMAN			5	1381	-			244			BEN 1.		A2RRH2|Q9HCL9	Missense_Mutation	SNP	ENST00000369042.1	37	c.731C>T	CCDS34507.1	.	.	.	.	.	.	.	.	.	.	G	17.24	3.339989	0.60963	.	.	ENSG00000178409	ENST00000369042;ENST00000429433	.	.	.	5.32	5.32	0.75619	BEN domain (1);	0.000000	0.85682	D	0.000000	T	0.43100	0.1232	L	0.57536	1.79	0.80722	D	1	P	0.42409	0.779	B	0.32149	0.141	T	0.57837	-0.7742	9	0.87932	D	0	-0.8159	19.1834	0.93632	0.0:0.0:1.0:0.0	.	244	Q5T5X7	BEND3_HUMAN	L	244	.	ENSP00000358038:P244L	P	-	2	0	BEND3	107498357	1.000000	0.71417	0.878000	0.34440	0.894000	0.52154	7.311000	0.78958	2.774000	0.95407	0.561000	0.74099	CCT		PASS	0.637	BEND3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041686.1	NM_020913		9	33	9	33	---	---	---	---
GPRC6A	222545	broad.mit.edu	37	6	117130548	117130548	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2756-01A-01D-1522-08	TCGA-66-2756-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	472c95e6-eccb-4988-be16-fdace73b2ed8	ff4f5936-f847-42ad-aedf-6a6a7fff6002	g.chr6:117130548C>A	ENST00000310357.3	-	2	448	c.427G>T	c.(427-429)Gtc>Ttc	p.V143F	GPRC6A_ENST00000368549.3_Missense_Mutation_p.V143F|GPRC6A_ENST00000530250.1_Missense_Mutation_p.V143F	NM_148963.2	NP_683766.2	Q5T6X5	GPC6A_HUMAN	G protein-coupled receptor, class C, group 6, member A	143					calcium-mediated signaling (GO:0019722)|response to amino acid (GO:0043200)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.V143F(1)		autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|liver(1)|lung(24)|ovary(5)|pancreas(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(3)	65		all_cancers(87;0.0314)|all_epithelial(87;0.0216)|Colorectal(196;0.234)		GBM - Glioblastoma multiforme(226;0.0265)|all cancers(137;0.0554)|OV - Ovarian serous cystadenocarcinoma(136;0.07)		GAACCTATGACAGCCTTAACT	0.438																																						uc003pxj.1																			1	Substitution - Missense(1)		lung(1)	ovary(4)|skin(2)	6						c.(427-429)GTC>TTC		G protein-coupled receptor, family C, group 6,							95.0	91.0	92.0					6																	117130548		2203	4300	6503	SO:0001583	missense	222545				response to amino acid stimulus		G-protein coupled receptor activity	g.chr6:117130548C>A	AF502962	CCDS5112.1, CCDS69184.1, CCDS69185.1	6q22.31	2014-01-30	2014-01-30		ENSG00000173612	ENSG00000173612		"""GPCR / Class C : Calcium-sensing receptors"""	18510	protein-coding gene	gene with protein product			"""G protein-coupled receptor, family C, group 6, member A"""				Standard	NM_001286354		Approved	bA86F4.3	uc003pxj.1	Q5T6X5	OTTHUMG00000015447	ENST00000310357.3:c.427G>T	6.37:g.117130548C>A	ENSP00000309493:p.Val143Phe					GPRC6A_uc003pxk.1_Missense_Mutation_p.V143F|GPRC6A_uc003pxl.1_Missense_Mutation_p.V143F	p.V143F	NM_148963	NP_683766	Q5T6X5	GPC6A_HUMAN		GBM - Glioblastoma multiforme(226;0.0265)|all cancers(137;0.0554)|OV - Ovarian serous cystadenocarcinoma(136;0.07)	2	449	-		all_cancers(87;0.0314)|all_epithelial(87;0.0216)|Colorectal(196;0.234)	143			Extracellular (Potential).		Q6JK43|Q6JK44|Q8NGU8|Q8NHZ9|Q8TDT6	Missense_Mutation	SNP	ENST00000310357.3	37	c.427G>T	CCDS5112.1	.	.	.	.	.	.	.	.	.	.	C	18.02	3.529734	0.64860	.	.	ENSG00000173612	ENST00000310357;ENST00000368549;ENST00000530250	D;D;D	0.85484	-1.99;-1.99;-1.99	4.86	3.06	0.35304	Extracellular ligand-binding receptor (1);	0.173648	0.35615	N	0.003097	D	0.84151	0.5409	M	0.71920	2.185	0.28086	N	0.932012	D;D;P	0.60575	0.988;0.973;0.909	P;P;P	0.61800	0.894;0.811;0.641	T	0.77472	-0.2575	10	0.51188	T	0.08	.	8.7873	0.34830	0.0:0.7677:0.0:0.2323	.	143;143;143	Q5T6X5-3;Q5T6X5-2;Q5T6X5	.;.;GPC6A_HUMAN	F	143	ENSP00000309493:V143F;ENSP00000357537:V143F;ENSP00000433465:V143F	ENSP00000309493:V143F	V	-	1	0	GPRC6A	117237241	0.987000	0.35691	1.000000	0.80357	0.978000	0.69477	2.669000	0.46825	0.635000	0.30488	0.585000	0.79938	GTC		PASS	0.438	GPRC6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041966.2			43	59	43	59	---	---	---	---
RFX6	222546	broad.mit.edu	37	6	117240430	117240430	+	Nonsense_Mutation	SNP	C	C	T	rs369489227		TCGA-66-2756-01A-01D-1522-08	TCGA-66-2756-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	472c95e6-eccb-4988-be16-fdace73b2ed8	ff4f5936-f847-42ad-aedf-6a6a7fff6002	g.chr6:117240430C>T	ENST00000332958.2	+	11	1169	c.1153C>T	c.(1153-1155)Cga>Tga	p.R385*		NM_173560.3	NP_775831.2	Q8HWS3	RFX6_HUMAN	regulatory factor X, 6	385					endocrine pancreas development (GO:0031018)|glucose homeostasis (GO:0042593)|pancreatic A cell differentiation (GO:0003310)|pancreatic D cell differentiation (GO:0003311)|pancreatic epsilon cell differentiation (GO:0090104)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of insulin secretion (GO:0050796)|transcription, DNA-templated (GO:0006351)|type B pancreatic cell differentiation (GO:0003309)	nucleus (GO:0005634)	transcription regulatory region DNA binding (GO:0044212)	p.R385*(1)		cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(29)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	59						TTCTCTGAAACGACAAACATC	0.383																																						uc003pxm.2																			1	Substitution - Nonsense(1)		lung(1)	ovary(1)|pancreas(1)|skin(1)	3						c.(1153-1155)CGA>TGA		regulatory factor X, 6							109.0	107.0	108.0					6																	117240430		2203	4300	6503	SO:0001587	stop_gained	222546				glucose homeostasis|pancreatic A cell differentiation|pancreatic D cell differentiation|pancreatic E cell differentiation|positive regulation of transcription, DNA-dependent|regulation of insulin secretion|transcription, DNA-dependent|type B pancreatic cell differentiation	nucleus	protein binding|transcription regulatory region DNA binding	g.chr6:117240430C>T	BC039248	CCDS5113.1	6q22.31	2008-08-04	2008-08-04	2008-08-04	ENSG00000185002	ENSG00000185002			21478	protein-coding gene	gene with protein product		612659	"""regulatory factor X domain containing 1"""	RFXDC1			Standard	NM_173560		Approved	MGC33442, dJ955L16.1	uc003pxm.3	Q8HWS3	OTTHUMG00000015449	ENST00000332958.2:c.1153C>T	6.37:g.117240430C>T	ENSP00000332208:p.Arg385*						p.R385*	NM_173560	NP_775831	Q8HWS3	RFX6_HUMAN			11	1216	+			385					Q5T6B3	Nonsense_Mutation	SNP	ENST00000332958.2	37	c.1153C>T	CCDS5113.1	.	.	.	.	.	.	.	.	.	.	C	36	5.885160	0.97068	.	.	ENSG00000185002	ENST00000332958	.	.	.	6.08	4.26	0.50523	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-14.9338	15.0236	0.71650	0.4831:0.5169:0.0:0.0	.	.	.	.	X	385	.	ENSP00000332208:R385X	R	+	1	2	RFX6	117347123	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	0.928000	0.28831	0.851000	0.35264	0.591000	0.81541	CGA		PASS	0.383	RFX6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041970.2	NM_173560		14	88	14	88	---	---	---	---
ROS1	6098	broad.mit.edu	37	6	117681563	117681563	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2756-01A-01D-1522-08	TCGA-66-2756-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	472c95e6-eccb-4988-be16-fdace73b2ed8	ff4f5936-f847-42ad-aedf-6a6a7fff6002	g.chr6:117681563C>A	ENST00000368508.3	-	22	3585	c.3387G>T	c.(3385-3387)agG>agT	p.R1129S	GOPC_ENST00000467125.1_Intron|ROS1_ENST00000368507.3_Missense_Mutation_p.R1124S	NM_002944.2	NP_002935.2	P08922	ROS1_HUMAN	ROS proto-oncogene 1 , receptor tyrosine kinase	1129	Fibronectin type-III 5. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell differentiation (GO:0030154)|cell growth (GO:0016049)|cell proliferation (GO:0008283)|columnar/cuboidal epithelial cell development (GO:0002066)|negative regulation of gene expression (GO:0010629)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein phosphorylation (GO:0006468)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of phosphate transport (GO:0010966)|regulation of TOR signaling (GO:0032006)|spermatogenesis (GO:0007283)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)	p.R1129S(2)	TPM3_ENST00000368530/ROS1(4)|LRIG3/ROS1(2)|CD74_ENST00000009530/ROS1(32)|SLC34A2/ROS1(14)|EZR/ROS1(4)|GOPC/ROS1(14)|SDC4/ROS1(7)	NS(2)|breast(7)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(28)|lung(56)|ovary(8)|prostate(5)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	162		all_cancers(87;0.00846)|all_epithelial(87;0.0242)		GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137)		ATGTAAAGGCCCTAACCTAAA	0.358			T	"""GOPC, SDC4, SLC34A2, EZR, LRIG3"""	"""glioblastoma, NSCLC"""																																	uc003pxp.1				Dom	yes		6	6q22	6098	T	v-ros UR2 sarcoma virus oncogene homolog 1 (avian)			"""O, E"""	GOPC|ROS1		glioblastoma|NSCLC		2	Substitution - Missense(2)		lung(2)	lung(8)|ovary(6)|central_nervous_system(3)|skin(3)|stomach(2)|breast(2)|large_intestine(1)	25						c.(3385-3387)AGG>AGT		proto-oncogene c-ros-1 protein precursor							82.0	77.0	79.0					6																	117681563		2203	4300	6503	SO:0001583	missense	6098				transmembrane receptor protein tyrosine kinase signaling pathway	membrane fraction|sodium:potassium-exchanging ATPase complex	ATP binding|transmembrane receptor protein tyrosine kinase activity	g.chr6:117681563C>A	M13599	CCDS5116.1	6q21-q22	2014-06-26	2014-06-26		ENSG00000047936	ENSG00000047936		"""Fibronectin type III domain containing"""	10261	protein-coding gene	gene with protein product		165020	"""v-ros avian UR2 sarcoma virus oncogene homolog 1"", ""v-ros UR2 sarcoma virus oncogene homolog 1 (avian)"", ""c-ros oncogene 1 , receptor tyrosine kinase"""			1611909	Standard	NM_002944		Approved	MCF3, ROS, c-ros-1	uc003pxp.1	P08922	OTTHUMG00000016188	ENST00000368508.3:c.3387G>T	6.37:g.117681563C>A	ENSP00000357494:p.Arg1129Ser					ROS1_uc011ebi.1_RNA|GOPC_uc003pxq.1_Intron	p.R1129S	NM_002944	NP_002935	P08922	ROS_HUMAN		GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137)	22	3586	-		all_cancers(87;0.00846)|all_epithelial(87;0.0242)	1129			Fibronectin type-III 5.|Extracellular (Potential).		Q15368|Q5TDB5	Missense_Mutation	SNP	ENST00000368508.3	37	c.3387G>T	CCDS5116.1	.	.	.	.	.	.	.	.	.	.	C	8.936	0.964600	0.18583	.	.	ENSG00000047936	ENST00000368508;ENST00000368507	T;T	0.58210	0.35;0.35	5.14	-1.89	0.07689	.	0.262955	0.27039	N	0.021222	T	0.30355	0.0762	M	0.71581	2.175	0.46167	D	0.998904	B	0.21905	0.062	B	0.27608	0.081	T	0.22730	-1.0208	10	0.72032	D	0.01	.	6.3445	0.21341	0.12:0.3946:0.0:0.4853	.	1129	P08922	ROS1_HUMAN	S	1129;1124	ENSP00000357494:R1129S;ENSP00000357493:R1124S	ENSP00000357493:R1124S	R	-	3	2	ROS1	117788256	0.977000	0.34250	0.951000	0.38953	0.058000	0.15608	0.141000	0.16076	-0.243000	0.09653	-0.345000	0.07892	AGG		PASS	0.358	ROS1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000043464.1			37	34	37	34	---	---	---	---
MCM9	254394	broad.mit.edu	37	6	119252620	119252620	+	Missense_Mutation	SNP	A	A	C			TCGA-66-2756-01A-01D-1522-08	TCGA-66-2756-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	472c95e6-eccb-4988-be16-fdace73b2ed8	ff4f5936-f847-42ad-aedf-6a6a7fff6002	g.chr6:119252620A>C	ENST00000316316.6	-	2	555	c.269T>G	c.(268-270)gTt>gGt	p.V90G	MCM9_ENST00000316068.3_Missense_Mutation_p.V90G	NM_017696.2	NP_060166.2	Q9NXL9	MCM9_HUMAN	minichromosome maintenance complex component 9	90					cellular response to DNA damage stimulus (GO:0006974)|DNA replication (GO:0006260)|double-strand break repair via homologous recombination (GO:0000724)|female gamete generation (GO:0007292)	MCM8-MCM9 complex (GO:0097362)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)	p.V90G(2)		cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18		all_cancers(87;0.122)|all_epithelial(87;0.179)		GBM - Glioblastoma multiforme(226;0.0676)|OV - Ovarian serous cystadenocarcinoma(136;0.194)		TTTCATGGAAACAGCCTCAGG	0.393																																						uc003pyh.2																			2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(268-270)GTT>GGT		minichromosome maintenance complex component 9							64.0	60.0	61.0					6																	119252620		2203	4300	6503	SO:0001583	missense	254394				DNA replication		ATP binding|DNA binding|nucleoside-triphosphatase activity	g.chr6:119252620A>C	BC031658	CCDS5121.1, CCDS56447.1	6q22.31	2009-11-16	2007-04-04	2007-04-04	ENSG00000111877	ENSG00000111877			21484	protein-coding gene	gene with protein product		610098	"""minichromosome maintenance deficient domain containing 1"", ""chromosome 6 open reading frame 61"""	MCMDC1, C6orf61		16226853, 15850810, 16495042	Standard	NM_153255		Approved	MGC35304, dJ329L24.3, FLJ20170	uc021zeh.1	Q9NXL9	OTTHUMG00000015468	ENST00000316316.6:c.269T>G	6.37:g.119252620A>C	ENSP00000314505:p.Val90Gly						p.V90G	NM_153255	NP_694987	Q9NXL9	MCM9_HUMAN		GBM - Glioblastoma multiforme(226;0.0676)|OV - Ovarian serous cystadenocarcinoma(136;0.194)	2	532	-		all_cancers(87;0.122)|all_epithelial(87;0.179)	90					B4DR30|B9DI77|Q2KHJ0|Q8N5S5|Q9HCV5	Missense_Mutation	SNP	ENST00000316316.6	37	c.269T>G	CCDS56447.1	.	.	.	.	.	.	.	.	.	.	A	4.913	0.169621	0.09339	.	.	ENSG00000111877	ENST00000316316;ENST00000316068;ENST00000425154	T;T	0.05786	3.79;3.39	5.91	2.12	0.27331	.	.	.	.	.	T	0.00998	0.0033	N	0.08118	0	0.09310	N	1	B	0.06786	0.001	B	0.15052	0.012	T	0.47837	-0.9086	9	0.22706	T	0.39	.	9.5075	0.39056	0.7926:0.0:0.2074:0.0	.	90	Q9NXL9-2	.	G	90	ENSP00000314505:V90G;ENSP00000312870:V90G	ENSP00000312870:V90G	V	-	2	0	MCM9	119294319	0.364000	0.24997	0.005000	0.12908	0.255000	0.26057	1.926000	0.40084	0.124000	0.18369	0.533000	0.62120	GTT		PASS	0.393	MCM9-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042005.4	NM_153255		40	32	40	32	---	---	---	---
TRDN	10345	broad.mit.edu	37	6	123892145	123892145	+	Missense_Mutation	SNP	A	A	T			TCGA-66-2756-01A-01D-1522-08	TCGA-66-2756-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	472c95e6-eccb-4988-be16-fdace73b2ed8	ff4f5936-f847-42ad-aedf-6a6a7fff6002	g.chr6:123892145A>T	ENST00000398178.3	-	2	176	c.155T>A	c.(154-156)cTg>cAg	p.L52Q	TRDN_ENST00000546248.1_Missense_Mutation_p.L52Q|TRDN_ENST00000334268.4_Missense_Mutation_p.L52Q|TRDN_ENST00000542443.1_Missense_Mutation_p.L52Q	NM_006073.3	NP_006064.2	Q13061	TRDN_HUMAN	triadin	52					cellular calcium ion homeostasis (GO:0006874)|cytoplasmic microtubule organization (GO:0031122)|endoplasmic reticulum membrane organization (GO:0090158)|heart contraction (GO:0060047)|ion transmembrane transport (GO:0034220)|muscle contraction (GO:0006936)|myotube differentiation (GO:0014902)|negative regulation of ryanodine-sensitive calcium-release channel activity (GO:0060315)|positive regulation of cell communication by electrical coupling involved in cardiac conduction (GO:1901846)|positive regulation of ryanodine-sensitive calcium-release channel activity (GO:0060316)|regulation of cardiac muscle cell membrane potential (GO:0086036)|regulation of cell communication by electrical coupling (GO:0010649)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to organic cyclic compound (GO:0014070)|transmembrane transport (GO:0055085)	calcium channel complex (GO:0034704)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|junctional membrane complex (GO:0030314)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum lumen (GO:0033018)|sarcoplasmic reticulum membrane (GO:0033017)	ion channel binding (GO:0044325)|protein binding, bridging (GO:0030674)|protein homodimerization activity (GO:0042803)	p.L52Q(1)		NS(1)|endometrium(1)|kidney(1)|large_intestine(8)|liver(1)|lung(22)|ovary(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	41				GBM - Glioblastoma multiforme(226;0.184)		GGCAATGACCAGAAGCCAGGC	0.453																																						uc003pzj.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(154-156)CTG>CAG		triadin							107.0	111.0	110.0					6																	123892145		2049	4199	6248	SO:0001583	missense	10345				muscle contraction	integral to membrane|plasma membrane|sarcoplasmic reticulum membrane	receptor binding	g.chr6:123892145A>T	U18985	CCDS59035.1, CCDS75511.1	6q22.31	2008-05-15			ENSG00000186439	ENSG00000186439			12261	protein-coding gene	gene with protein product		603283				7588753	Standard	NM_001251987		Approved		uc003pzj.2	Q13061	OTTHUMG00000015497	ENST00000398178.3:c.155T>A	6.37:g.123892145A>T	ENSP00000381240:p.Leu52Gln					TRDN_uc003pzk.1_Missense_Mutation_p.L52Q|TRDN_uc003pzl.1_Missense_Mutation_p.L52Q|TRDN_uc010ken.2_Missense_Mutation_p.L52Q|TRDN_uc010keo.1_Missense_Mutation_p.L52Q	p.L52Q	NM_006073	NP_006064	Q13061	TRDN_HUMAN		GBM - Glioblastoma multiforme(226;0.184)	2	177	-			52			Helical; (Potential).		A5D6W5|F5H2W7|Q6NSB8	Missense_Mutation	SNP	ENST00000398178.3	37	c.155T>A	CCDS55053.1	.	.	.	.	.	.	.	.	.	.	A	24.1	4.490436	0.84962	.	.	ENSG00000186439	ENST00000398178;ENST00000398161;ENST00000334268;ENST00000542014;ENST00000543022;ENST00000546248;ENST00000542443	T;T;T;T	0.75367	0.17;0.17;0.17;-0.93	5.82	5.82	0.92795	Aspartyl beta-hydroxylase/Triadin domain (1);	0.000000	0.85682	D	0.000000	D	0.84566	0.5500	M	0.81942	2.565	0.48395	D	0.999642	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	0.999;0.999;1.0;1.0;1.0	D	0.87090	0.2172	10	0.87932	D	0	-5.5165	16.1778	0.81874	1.0:0.0:0.0:0.0	.	52;52;52;52;52	F5H6E3;F5H2W7;Q5SWK9;Q8IVK2;Q13061	.;.;.;.;TRDN_HUMAN	Q	52	ENSP00000381240:L52Q;ENSP00000333984:L52Q;ENSP00000439281:L52Q;ENSP00000437684:L52Q	ENSP00000333984:L52Q	L	-	2	0	TRDN	123933844	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	8.930000	0.92872	2.222000	0.72286	0.455000	0.32223	CTG		PASS	0.453	TRDN-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding				14	84	14	84	---	---	---	---
L3MBTL3	84456	broad.mit.edu	37	6	130378584	130378584	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2756-01A-01D-1522-08	TCGA-66-2756-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	472c95e6-eccb-4988-be16-fdace73b2ed8	ff4f5936-f847-42ad-aedf-6a6a7fff6002	g.chr6:130378584G>T	ENST00000529410.1	+	11	1180	c.701G>T	c.(700-702)tGg>tTg	p.W234L	L3MBTL3_ENST00000368136.2_Missense_Mutation_p.W234L|L3MBTL3_ENST00000361794.2_Missense_Mutation_p.W234L|L3MBTL3_ENST00000526019.1_Missense_Mutation_p.W209L|L3MBTL3_ENST00000533560.1_Missense_Mutation_p.W209L|L3MBTL3_ENST00000368139.2_Missense_Mutation_p.W209L			Q96JM7	LMBL3_HUMAN	l(3)mbt-like 3 (Drosophila)	234					chromatin modification (GO:0016568)|erythrocyte maturation (GO:0043249)|granulocyte differentiation (GO:0030851)|macrophage differentiation (GO:0030225)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)		p.W234L(1)		cervix(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(22)|ovary(5)|skin(4)|stomach(1)|urinary_tract(1)	43				GBM - Glioblastoma multiforme(226;0.0266)|OV - Ovarian serous cystadenocarcinoma(155;0.154)		GCGTGGTGCTGGGCATCCTAC	0.527																																						uc003qbt.2																			1	Substitution - Missense(1)		lung(1)	ovary(5)|skin(1)	6						c.(700-702)TGG>TTG		l(3)mbt-like 3 isoform a							74.0	69.0	70.0					6																	130378584		2203	4300	6503	SO:0001583	missense	84456				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus		g.chr6:130378584G>T	AB058701	CCDS34537.1, CCDS34538.1	6q23	2013-01-10			ENSG00000198945	ENSG00000198945		"""Sterile alpha motif (SAM) domain containing"""	23035	protein-coding gene	gene with protein product							Standard	NM_032438		Approved	KIAA1798	uc003qbt.3	Q96JM7	OTTHUMG00000015554	ENST00000529410.1:c.701G>T	6.37:g.130378584G>T	ENSP00000431962:p.Trp234Leu					L3MBTL3_uc003qbu.2_Missense_Mutation_p.W209L	p.W234L	NM_032438	NP_115814	Q96JM7	LMBL3_HUMAN		GBM - Glioblastoma multiforme(226;0.0266)|OV - Ovarian serous cystadenocarcinoma(155;0.154)	9	871	+			234			MBT 1.		Q4VXE1|Q5VUM9|Q6P9B5	Missense_Mutation	SNP	ENST00000529410.1	37	c.701G>T	CCDS34537.1	.	.	.	.	.	.	.	.	.	.	G	24.5	4.541168	0.85917	.	.	ENSG00000198945	ENST00000529410;ENST00000533560;ENST00000361794;ENST00000368139;ENST00000526019;ENST00000368136	D;D;D;D;D;D	0.94280	-3.39;-3.39;-3.39;-3.39;-3.39;-3.39	5.2	5.2	0.72013	.	0.000000	0.85682	D	0.000000	D	0.96470	0.8848	M	0.77406	2.37	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.997	D	0.96501	0.9371	10	0.66056	D	0.02	.	19.0971	0.93257	0.0:0.0:1.0:0.0	.	209;234	Q96JM7-2;Q96JM7	.;LMBL3_HUMAN	L	234;209;234;209;209;234	ENSP00000431962:W234L;ENSP00000437185:W209L;ENSP00000354526:W234L;ENSP00000357121:W209L;ENSP00000436706:W209L;ENSP00000357118:W234L	ENSP00000354526:W234L	W	+	2	0	L3MBTL3	130420277	1.000000	0.71417	1.000000	0.80357	0.916000	0.54674	7.516000	0.81772	2.578000	0.87016	0.551000	0.68910	TGG		PASS	0.527	L3MBTL3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042195.2	XM_027074		7	14	7	14	---	---	---	---
TAAR5	9038	broad.mit.edu	37	6	132910476	132910476	+	Missense_Mutation	SNP	A	A	T			TCGA-66-2756-01A-01D-1522-08	TCGA-66-2756-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	472c95e6-eccb-4988-be16-fdace73b2ed8	ff4f5936-f847-42ad-aedf-6a6a7fff6002	g.chr6:132910476A>T	ENST00000258034.2	-	1	401	c.350T>A	c.(349-351)tTc>tAc	p.F117Y		NM_003967.2	NP_003958.2	O14804	TAAR5_HUMAN	trace amine associated receptor 5	117					G-protein coupled receptor signaling pathway (GO:0007186)|sensory perception of chemical stimulus (GO:0007606)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)|trimethylamine receptor activity (GO:1990081)	p.F117Y(1)		breast(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	32	Breast(56;0.112)			OV - Ovarian serous cystadenocarcinoma(155;0.00604)|GBM - Glioblastoma multiforme(226;0.015)		GGTGAGGCAGAAGAGGGTGTC	0.582																																						uc003qdk.2																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(349-351)TTC>TAC		trace amine associated receptor 5							140.0	148.0	145.0					6																	132910476		2203	4300	6503	SO:0001583	missense	9038				synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity	g.chr6:132910476A>T	AF021818	CCDS5156.1	6q23.2	2012-08-08			ENSG00000135569	ENSG00000135569		"""GPCR / Class A : Trace amine associated receptors"""	30236	protein-coding gene	gene with protein product		607405				9464258, 15718104	Standard	NM_003967		Approved	PNR	uc003qdk.2	O14804	OTTHUMG00000015581	ENST00000258034.2:c.350T>A	6.37:g.132910476A>T	ENSP00000258034:p.Phe117Tyr						p.F117Y	NM_003967	NP_003958	O14804	TAAR5_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;0.00604)|GBM - Glioblastoma multiforme(226;0.015)	1	402	-	Breast(56;0.112)		117			Helical; Name=3; (Potential).		D8KZS1|Q2M1V1|Q4VBL1|Q5VUQ3|Q6NTA8	Missense_Mutation	SNP	ENST00000258034.2	37	c.350T>A	CCDS5156.1	.	.	.	.	.	.	.	.	.	.	A	24.1	4.488723	0.84962	.	.	ENSG00000135569	ENST00000258034	T	0.41400	1.0	5.43	5.43	0.79202	GPCR, rhodopsin-like superfamily (1);	0.000000	0.64402	D	0.000003	T	0.62024	0.2394	M	0.84948	2.725	0.44762	D	0.997761	D	0.76494	0.999	D	0.72982	0.979	T	0.69343	-0.5170	10	0.72032	D	0.01	-22.2449	15.6558	0.77133	1.0:0.0:0.0:0.0	.	117	O14804	TAAR5_HUMAN	Y	117	ENSP00000258034:F117Y	ENSP00000258034:F117Y	F	-	2	0	TAAR5	132952169	0.905000	0.30787	0.990000	0.47175	0.995000	0.86356	7.199000	0.77831	2.280000	0.76307	0.533000	0.62120	TTC		PASS	0.582	TAAR5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042257.1	NM_003967		21	80	21	80	---	---	---	---
VNN2	8875	broad.mit.edu	37	6	133077158	133077158	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2756-01A-01D-1522-08	TCGA-66-2756-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	472c95e6-eccb-4988-be16-fdace73b2ed8	ff4f5936-f847-42ad-aedf-6a6a7fff6002	g.chr6:133077158C>A	ENST00000326499.6	-	3	485	c.361G>T	c.(361-363)Gta>Tta	p.V121L	VNN2_ENST00000526192.1_5'UTR|VNN2_ENST00000525289.1_Missense_Mutation_p.V121L|VNN2_ENST00000525270.1_Missense_Mutation_p.V68L|RP1-55C23.7_ENST00000430895.1_RNA	NM_004665.2	NP_004656	O95498	VNN2_HUMAN	vanin 2	121	CN hydrolase. {ECO:0000255|PROSITE- ProRule:PRU00054}.				cellular component movement (GO:0006928)|pantothenate metabolic process (GO:0015939)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)	pantetheine hydrolase activity (GO:0017159)	p.V121L(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(14)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				OV - Ovarian serous cystadenocarcinoma(155;0.00237)|GBM - Glioblastoma multiforme(226;0.0267)		CTTGCTTGTACTGGTGTGTGA	0.373																																						uc003qdt.2																			1	Substitution - Missense(1)		lung(1)		0						c.(361-363)GTA>TTA		vanin 2 isoform 1 precursor							80.0	69.0	72.0					6																	133077158		2203	4300	6503	SO:0001583	missense	8875				cellular component movement|pantothenate metabolic process	anchored to membrane|plasma membrane	pantetheine hydrolase activity	g.chr6:133077158C>A	AB026705	CCDS5161.1, CCDS5162.1, CCDS56451.1	6q23-q24	2013-02-13			ENSG00000112303	ENSG00000112303	3.5.1.92	"""Vanins"""	12706	protein-coding gene	gene with protein product	"""pantetheinase"""	603571				9790769, 11491533	Standard	NM_078488		Approved	FOAP-4, GPI-80	uc003qdt.3	O95498	OTTHUMG00000015588	ENST00000326499.6:c.361G>T	6.37:g.133077158C>A	ENSP00000322276:p.Val121Leu					VNN2_uc003qds.2_5'UTR|VNN2_uc010kgb.2_Missense_Mutation_p.V121L|VNN2_uc003qdv.2_Missense_Mutation_p.V68L	p.V121L	NM_004665	NP_004656	O95498	VNN2_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;0.00237)|GBM - Glioblastoma multiforme(226;0.0267)	3	372	-			121			CN hydrolase.		A0AUZ3|A6NDY1|A8K4E3|A8K7W0|B2DFZ0|B2DFZ1|B2DFZ2|B2DFZ3|F6XL73|Q2XUN1|Q9UJF3|Q9UMW2	Missense_Mutation	SNP	ENST00000326499.6	37	c.361G>T	CCDS5161.1	.	.	.	.	.	.	.	.	.	.	C	14.12	2.440984	0.43326	.	.	ENSG00000112303	ENST00000326499;ENST00000525270;ENST00000525289;ENST00000524919;ENST00000530536	D;D;D;D;D	0.88586	-2.4;-2.4;-2.4;-1.98;-1.98	5.05	2.21	0.28008	Nitrilase/cyanide hydratase and apolipoprotein N-acyltransferase (4);	0.213965	0.31041	N	0.008376	D	0.87334	0.6151	M	0.71206	2.165	0.31173	N	0.702958	P;P	0.51791	0.875;0.948	B;P	0.56278	0.341;0.795	T	0.83353	-0.0002	10	0.52906	T	0.07	-6.7547	9.7347	0.40382	0.0:0.6979:0.0:0.3021	.	121;121	O95498-2;O95498	.;VNN2_HUMAN	L	121;68;121;121;68	ENSP00000322276:V121L;ENSP00000436822:V68L;ENSP00000436935:V121L;ENSP00000431451:V121L;ENSP00000434210:V68L	ENSP00000322276:V121L	V	-	1	0	VNN2	133118851	0.062000	0.20869	0.962000	0.40283	0.806000	0.45545	0.372000	0.20467	0.222000	0.20900	0.603000	0.83216	GTA		PASS	0.373	VNN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042264.2			7	32	7	32	---	---	---	---
PHACTR2	9749	broad.mit.edu	37	6	144098473	144098473	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2756-01A-01D-1522-08	TCGA-66-2756-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	472c95e6-eccb-4988-be16-fdace73b2ed8	ff4f5936-f847-42ad-aedf-6a6a7fff6002	g.chr6:144098473G>T	ENST00000427704.2	+	9	1695	c.1565G>T	c.(1564-1566)aGc>aTc	p.S522I	PHACTR2_ENST00000367582.3_Missense_Mutation_p.S453I|PHACTR2_ENST00000305766.6_Missense_Mutation_p.S442I|PHACTR2_ENST00000440869.2_Missense_Mutation_p.S533I|PHACTR2_ENST00000367584.4_Missense_Mutation_p.S510I	NM_001100166.1|NM_014721.2	NP_001093636.1|NP_055536.2	O75167	PHAR2_HUMAN	phosphatase and actin regulator 2	522							protein phosphatase inhibitor activity (GO:0004864)	p.S442I(1)|p.S533I(1)		NS(3)|breast(1)|cervix(1)|endometrium(3)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	30				OV - Ovarian serous cystadenocarcinoma(155;1.58e-05)|GBM - Glioblastoma multiforme(68;0.0386)		AGGAGGCTGAGCCAGAGGCCC	0.373																																					Pancreas(12;292 433 7358 48260 52635)|Ovarian(20;501 618 3485 36581 49208)	uc003qjq.3																			2	Substitution - Missense(2)		lung(2)	ovary(2)	2						c.(1564-1566)AGC>ATC		phosphatase and actin regulator 2 isoform 3							70.0	67.0	68.0					6																	144098473		1843	4089	5932	SO:0001583	missense	9749						actin binding|protein phosphatase inhibitor activity	g.chr6:144098473G>T	AB014580	CCDS43512.1, CCDS47492.1, CCDS47493.1, CCDS47494.1	6q24.1	2013-01-24	2004-05-20	2004-05-20	ENSG00000112419	ENSG00000112419		"""Phosphatase and actin regulators"""	20956	protein-coding gene	gene with protein product		608724	"""chromosome 6 open reading frame 56"""	C6orf56		9734811, 15107502	Standard	NM_001100164		Approved	KIAA0680	uc010khi.3	O75167	OTTHUMG00000015732	ENST00000427704.2:c.1565G>T	6.37:g.144098473G>T	ENSP00000391763:p.Ser522Ile					PHACTR2_uc010khh.2_Missense_Mutation_p.S442I|PHACTR2_uc010khi.2_Missense_Mutation_p.S533I|PHACTR2_uc003qjr.3_Missense_Mutation_p.S453I	p.S522I	NM_014721	NP_055536	O75167	PHAR2_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;1.58e-05)|GBM - Glioblastoma multiforme(68;0.0386)	9	1695	+			522			RPEL 3.		A6NKP5|A7MCZ5|A8MZC0|B2RWP7|B4DN76|B4DPB5|B4DTH7|Q5TFA0|Q68DM2	Missense_Mutation	SNP	ENST00000427704.2	37	c.1565G>T	CCDS47492.1	.	.	.	.	.	.	.	.	.	.	G	29.0	4.972073	0.92919	.	.	ENSG00000112419	ENST00000367584;ENST00000427704;ENST00000305766;ENST00000440869;ENST00000367582	T;T;T;T;T	0.38722	1.12;1.53;1.15;1.52;1.15	5.78	5.78	0.91487	.	0.000000	0.85682	D	0.000000	T	0.65249	0.2673	M	0.84326	2.69	0.80722	D	1	D;D;D;D	0.89917	0.979;1.0;1.0;0.999	D;D;D;D	0.87578	0.936;0.998;0.998;0.998	T	0.67860	-0.5561	10	0.62326	D	0.03	.	20.0137	0.97470	0.0:0.0:1.0:0.0	.	533;442;453;522	O75167-4;O75167-5;O75167-2;O75167	.;.;.;PHAR2_HUMAN	I	510;522;442;533;453	ENSP00000356556:S510I;ENSP00000391763:S522I;ENSP00000305530:S442I;ENSP00000417038:S533I;ENSP00000356554:S453I	ENSP00000305530:S442I	S	+	2	0	PHACTR2	144140166	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	9.330000	0.96422	2.734000	0.93682	0.563000	0.77884	AGC		PASS	0.373	PHACTR2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000042528.2	NM_014721		11	33	11	33	---	---	---	---
SASH1	23328	broad.mit.edu	37	6	148864899	148864899	+	Missense_Mutation	SNP	A	A	G			TCGA-66-2756-01A-01D-1522-08	TCGA-66-2756-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	472c95e6-eccb-4988-be16-fdace73b2ed8	ff4f5936-f847-42ad-aedf-6a6a7fff6002	g.chr6:148864899A>G	ENST00000367467.3	+	18	2768	c.2293A>G	c.(2293-2295)Aat>Gat	p.N765D		NM_015278.3	NP_056093.3	O94885	SASH1_HUMAN	SAM and SH3 domain containing 1	765					positive regulation of angiogenesis (GO:0045766)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of lipopolysaccharide-mediated signaling pathway (GO:0031666)|positive regulation of NIK/NF-kappaB signaling (GO:1901224)|positive regulation of p38MAPK cascade (GO:1900745)|protein polyubiquitination (GO:0000209)|regulation of protein autoubiquitination (GO:1902498)|regulation of protein K63-linked ubiquitination (GO:1900044)	membrane (GO:0016020)|protein complex (GO:0043234)	mitogen-activated protein kinase kinase kinase binding (GO:0031435)|protein C-terminus binding (GO:0008022)|protein complex scaffold (GO:0032947)|protein kinase binding (GO:0019901)	p.N765D(1)		breast(4)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(11)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	52		Ovarian(120;0.0169)		OV - Ovarian serous cystadenocarcinoma(155;5.63e-11)|GBM - Glioblastoma multiforme(68;0.0701)		CCAGTTGGGCAATTACCCAAC	0.537																																						uc003qme.1																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1						c.(2293-2295)AAT>GAT		SAM and SH3 domain containing 1							73.0	73.0	73.0					6																	148864899		2203	4300	6503	SO:0001583	missense	23328						protein binding	g.chr6:148864899A>G	AB018333	CCDS5212.1	6q24.3	2013-01-10			ENSG00000111961	ENSG00000111961		"""SAM and SH3 domain containing"", ""Sterile alpha motif (SAM) domain containing"""	19182	protein-coding gene	gene with protein product		607955				9872452, 12771949	Standard	NM_015278		Approved	KIAA0790, dJ323M4.1, SH3D6A	uc003qme.1	O94885	OTTHUMG00000015773	ENST00000367467.3:c.2293A>G	6.37:g.148864899A>G	ENSP00000356437:p.Asn765Asp					SASH1_uc011eeb.1_Missense_Mutation_p.N526D|SASH1_uc003qmf.1_Missense_Mutation_p.N175D	p.N765D	NM_015278	NP_056093	O94885	SASH1_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;5.63e-11)|GBM - Glioblastoma multiforme(68;0.0701)	18	2768	+		Ovarian(120;0.0169)	765					Q5TGN5|Q8TAI0|Q9H7R7	Missense_Mutation	SNP	ENST00000367467.3	37	c.2293A>G	CCDS5212.1	.	.	.	.	.	.	.	.	.	.	A	6.228	0.410223	0.11812	.	.	ENSG00000111961	ENST00000367467;ENST00000535767;ENST00000537769	T	0.36520	1.25	4.83	4.83	0.62350	.	0.289036	0.37483	N	0.002076	T	0.14700	0.0355	L	0.42245	1.32	0.29419	N	0.860706	B;B	0.06786	0.001;0.0	B;B	0.06405	0.002;0.002	T	0.08066	-1.0740	10	0.26408	T	0.33	-18.1137	13.0085	0.58718	1.0:0.0:0.0:0.0	.	746;765	Q6P4R9;O94885	.;SASH1_HUMAN	D	765;526;175	ENSP00000356437:N765D	ENSP00000356437:N765D	N	+	1	0	SASH1	148906592	0.858000	0.29795	1.000000	0.80357	0.112000	0.19704	2.144000	0.42197	1.820000	0.53075	0.528000	0.53228	AAT		PASS	0.537	SASH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042619.1	NM_015278		85	74	85	74	---	---	---	---
PDE10A	10846	broad.mit.edu	37	6	165792838	165792838	+	Silent	SNP	G	G	T			TCGA-66-2756-01A-01D-1522-08	TCGA-66-2756-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	472c95e6-eccb-4988-be16-fdace73b2ed8	ff4f5936-f847-42ad-aedf-6a6a7fff6002	g.chr6:165792838G>T	ENST00000366882.1	-	19	1954	c.1800C>A	c.(1798-1800)atC>atA	p.I600I	PDE10A_ENST00000539869.2_Silent_p.I610I|PDE10A_ENST00000354448.4_Silent_p.I600I			Q9Y233	PDE10_HUMAN	phosphodiesterase 10A	600					blood coagulation (GO:0007596)|cAMP catabolic process (GO:0006198)|cGMP catabolic process (GO:0046069)|regulation of cAMP-mediated signaling (GO:0043949)|regulation of protein kinase A signaling (GO:0010738)|signal transduction (GO:0007165)	cytosol (GO:0005829)	3',5'-cyclic-GMP phosphodiesterase activity (GO:0047555)|3',5'-cyclic-nucleotide phosphodiesterase activity (GO:0004114)|cAMP binding (GO:0030552)|cGMP binding (GO:0030553)|cGMP-stimulated cyclic-nucleotide phosphodiesterase activity (GO:0004118)|metal ion binding (GO:0046872)	p.I600I(1)		breast(4)|endometrium(5)|kidney(1)|large_intestine(13)|liver(1)|lung(39)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	71		Breast(66;0.000425)|Prostate(117;0.104)|Ovarian(120;0.221)		OV - Ovarian serous cystadenocarcinoma(33;1.5e-17)|BRCA - Breast invasive adenocarcinoma(81;1.8e-06)|GBM - Glioblastoma multiforme(31;1.92e-05)	Caffeine(DB00201)|Dipyridamole(DB00975)|Papaverine(DB01113)|Tofisopam(DB08811)|Triflusal(DB08814)	GAGTGGAGAAGATATTGTGCC	0.383																																					Esophageal Squamous(22;308 615 5753 12038 40624)	uc003qun.2																			1	Substitution - coding silent(1)		lung(1)	ovary(3)|skin(2)	5						c.(1798-1800)ATC>ATA		phosphodiesterase 10A isoform 2	Dipyridamole(DB00975)						103.0	96.0	98.0					6																	165792838		2203	4300	6503	SO:0001819	synonymous_variant	10846				platelet activation|signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cAMP binding|cGMP binding|metal ion binding	g.chr6:165792838G>T	AB020593	CCDS47513.1	6q26	2008-03-18			ENSG00000112541	ENSG00000112541	3.1.4.17	"""Phosphodiesterases"""	8772	protein-coding gene	gene with protein product		610652				10373451	Standard	NM_001130690		Approved		uc003quo.3	Q9Y233	OTTHUMG00000015986	ENST00000366882.1:c.1800C>A	6.37:g.165792838G>T						PDE10A_uc011egj.1_RNA|PDE10A_uc011egk.1_Silent_p.I530I|PDE10A_uc003quo.2_Silent_p.I610I	p.I600I	NM_006661	NP_006652	Q9Y233	PDE10_HUMAN		OV - Ovarian serous cystadenocarcinoma(33;1.5e-17)|BRCA - Breast invasive adenocarcinoma(81;1.8e-06)|GBM - Glioblastoma multiforme(31;1.92e-05)	19	2041	-		Breast(66;0.000425)|Prostate(117;0.104)|Ovarian(120;0.221)	600					Q6FHX1|Q9HCP9|Q9NTV4|Q9ULW9|Q9Y5T1	Silent	SNP	ENST00000366882.1	37	c.1800C>A																																																																																					PASS	0.383	PDE10A-001	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000043031.1			14	64	14	64	---	---	---	---
SNX8	29886	broad.mit.edu	37	7	2302977	2302977	+	Missense_Mutation	SNP	G	G	T	rs10229132	byFrequency	TCGA-66-2756-01A-01D-1522-08	TCGA-66-2756-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	472c95e6-eccb-4988-be16-fdace73b2ed8	ff4f5936-f847-42ad-aedf-6a6a7fff6002	g.chr7:2302977G>T	ENST00000222990.3	-	7	845	c.803C>A	c.(802-804)aCc>aAc	p.T268N		NM_013321.2	NP_037453.1	Q9Y5X2	SNX8_HUMAN	sorting nexin 8	268					early endosome to Golgi transport (GO:0034498)|intracellular protein transport (GO:0006886)	early endosome membrane (GO:0031901)	identical protein binding (GO:0042802)|phosphatidylinositol binding (GO:0035091)	p.T268N(1)		breast(2)|endometrium(5)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|prostate(2)|skin(3)	26		Ovarian(82;0.11)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0853)|OV - Ovarian serous cystadenocarcinoma(56;3.79e-14)		GGGCAGCGGGGTCGTGTCAGA	0.632																																						uc003slw.2																			1	Substitution - Missense(1)		lung(1)	large_intestine(1)|ovary(1)	2						c.(802-804)ACC>AAC		sorting nexin 8							38.0	36.0	37.0					7																	2302977		2203	4300	6503	SO:0001583	missense	29886				cell communication|early endosome to Golgi transport|intracellular protein transport	early endosome membrane	phosphatidylinositol binding|protein binding	g.chr7:2302977G>T	AF121858	CCDS5331.1	7p22.3	2010-08-05			ENSG00000106266	ENSG00000106266		"""Sorting nexins"""	14972	protein-coding gene	gene with protein product		614905					Standard	NM_013321		Approved	Mvp1	uc003slw.3	Q9Y5X2	OTTHUMG00000151512	ENST00000222990.3:c.803C>A	7.37:g.2302977G>T	ENSP00000222990:p.Thr268Asn						p.T268N	NM_013321	NP_037453	Q9Y5X2	SNX8_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0853)|OV - Ovarian serous cystadenocarcinoma(56;3.79e-14)	7	846	-		Ovarian(82;0.11)	268					A4D207|Q96I67	Missense_Mutation	SNP	ENST00000222990.3	37	c.803C>A	CCDS5331.1	.	.	.	.	.	.	.	.	.	.	G	12.03	1.815188	0.32053	.	.	ENSG00000106266	ENST00000222990	T	0.22336	1.96	5.47	5.47	0.80525	.	0.060125	0.64402	D	0.000002	T	0.14270	0.0345	N	0.14661	0.345	0.50171	D	0.999857	B	0.13145	0.007	B	0.16722	0.016	T	0.11916	-1.0568	10	0.16420	T	0.52	.	17.5154	0.87771	0.0:0.0:1.0:0.0	.	268	Q9Y5X2	SNX8_HUMAN	N	268	ENSP00000222990:T268N	ENSP00000222990:T268N	T	-	2	0	SNX8	2269503	1.000000	0.71417	0.968000	0.41197	0.655000	0.38815	7.061000	0.76699	2.570000	0.86706	0.655000	0.94253	ACC		PASS	0.632	SNX8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322949.2			7	14	7	14	---	---	---	---
SDK1	221935	broad.mit.edu	37	7	4249700	4249700	+	Silent	SNP	C	C	T			TCGA-66-2756-01A-01D-1522-08	TCGA-66-2756-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	472c95e6-eccb-4988-be16-fdace73b2ed8	ff4f5936-f847-42ad-aedf-6a6a7fff6002	g.chr7:4249700C>T	ENST00000404826.2	+	38	5584	c.5445C>T	c.(5443-5445)tcC>tcT	p.S1815S	SDK1_ENST00000389531.3_Silent_p.S1795S	NM_152744.3	NP_689957.3	Q7Z5N4	SDK1_HUMAN	sidekick cell adhesion molecule 1	1815	Fibronectin type-III 12. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)		p.S1815S(1)		NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)		AAATAACCTCCACCACGCTCA	0.572																																						uc003smx.2																			1	Substitution - coding silent(1)		lung(1)	large_intestine(3)|ovary(2)|skin(1)	6						c.(5443-5445)TCC>TCT		sidekick 1 precursor							61.0	67.0	65.0					7																	4249700		2203	4300	6503	SO:0001819	synonymous_variant	221935				cell adhesion	integral to membrane		g.chr7:4249700C>T	AK074077	CCDS34590.1	7p22.3	2013-02-11	2011-12-09		ENSG00000146555	ENSG00000146555		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	19307	protein-coding gene	gene with protein product		607216	"""sidekick homolog 1 (chicken)"", ""sidekick homolog 1, cell adhesion molecule (chicken)"""			12230981, 17307840, 15213259	Standard	NM_001079653		Approved	FLJ31425	uc003smx.3	Q7Z5N4	OTTHUMG00000151733	ENST00000404826.2:c.5445C>T	7.37:g.4249700C>T						SDK1_uc010kso.2_Silent_p.S1071S|SDK1_uc003smy.2_Silent_p.S302S	p.S1815S	NM_152744	NP_689957	Q7Z5N4	SDK1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)	38	5584	+		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)	1815			Fibronectin type-III 12.		Q8TEN9|Q8TEP5|Q96N44	Silent	SNP	ENST00000404826.2	37	c.5445C>T	CCDS34590.1																																																																																				PASS	0.572	SDK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323702.1	NM_152744		58	64	58	64	---	---	---	---
FBXL18	80028	broad.mit.edu	37	7	5540380	5540380	+	Missense_Mutation	SNP	C	C	A	rs199936573		TCGA-66-2756-01A-01D-1522-08	TCGA-66-2756-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	472c95e6-eccb-4988-be16-fdace73b2ed8	ff4f5936-f847-42ad-aedf-6a6a7fff6002	g.chr7:5540380C>A	ENST00000382368.3	-	3	1643	c.1520G>T	c.(1519-1521)cGc>cTc	p.R507L	FBXL18_ENST00000453700.3_Missense_Mutation_p.R507L	NM_024963.4	NP_079239.3	Q96ME1	FXL18_HUMAN	F-box and leucine-rich repeat protein 18	507								p.R507L(2)	FBXL18/RNF216(2)	central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(3)	21		Ovarian(82;0.0607)		UCEC - Uterine corpus endometrioid carcinoma (126;0.181)|OV - Ovarian serous cystadenocarcinoma(56;3.64e-13)		GAGCGAGTTGCGGATGGCGGG	0.662																																						uc003soo.2																			2	Substitution - Missense(2)		lung(2)	central_nervous_system(2)|ovary(1)	3						c.(1519-1521)CGC>CTC		F-box and leucine-rich repeat protein 18							12.0	16.0	15.0					7																	5540380		2063	4191	6254	SO:0001583	missense	80028							g.chr7:5540380C>A	AK057042	CCDS43546.1	7p22.2	2011-06-09			ENSG00000155034	ENSG00000155034		"""F-boxes / Leucine-rich repeats"""	21874	protein-coding gene	gene with protein product		609084					Standard	NM_024963		Approved	FLJ11467, Fbl18	uc003son.4	Q96ME1	OTTHUMG00000151832	ENST00000382368.3:c.1520G>T	7.37:g.5540380C>A	ENSP00000371805:p.Arg507Leu					FBXL18_uc003son.3_Missense_Mutation_p.R507L	p.R507L	NM_024963	NP_079239	Q96ME1	FXL18_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.181)|OV - Ovarian serous cystadenocarcinoma(56;3.64e-13)	3	1614	-		Ovarian(82;0.0607)	507					Q9BR90|Q9BTC7|Q9HAK7	Missense_Mutation	SNP	ENST00000382368.3	37	c.1520G>T	CCDS43546.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	23.8|23.8	4.462209|4.462209	0.84425|0.84425	.|.	.|.	ENSG00000155034|ENSG00000155034	ENST00000458142|ENST00000382368;ENST00000312577;ENST00000453700	.|T;T	.|0.41758	.|0.99;0.99	5.29|5.29	5.29|5.29	0.74685|0.74685	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.55545|0.55545	0.1927|0.1927	L|L	0.32530|0.32530	0.975|0.975	0.80722|0.80722	D|D	1|1	.|D;D	.|0.89917	.|1.0;1.0	.|D;D	.|0.87578	.|0.998;0.998	T|T	0.54636|0.54636	-0.8264|-0.8264	5|10	.|0.49607	.|T	.|0.09	.|.	18.2766|18.2766	0.90085|0.90085	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|507;507	.|F5H4Z4;Q96ME1-4	.|.;.	S|L	391|507	.|ENSP00000371805:R507L;ENSP00000444797:R507L	.|ENSP00000311990:R507L	A|R	-|-	1|2	0|0	FBXL18|FBXL18	5506906|5506906	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.979000|0.979000	0.70002|0.70002	5.738000|5.738000	0.68613|0.68613	2.650000|2.650000	0.89964|0.89964	0.585000|0.585000	0.79938|0.79938	GCA|CGC		PASS	0.662	FBXL18-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324093.1	NM_024963		20	8	20	8	---	---	---	---
ZNF12	7559	broad.mit.edu	37	7	6730591	6730591	+	Missense_Mutation	SNP	T	T	C			TCGA-66-2756-01A-01D-1522-08	TCGA-66-2756-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	472c95e6-eccb-4988-be16-fdace73b2ed8	ff4f5936-f847-42ad-aedf-6a6a7fff6002	g.chr7:6730591T>C	ENST00000405858.1	-	5	2523	c.1982A>G	c.(1981-1983)tAt>tGt	p.Y661C	ZNF12_ENST00000404360.1_Missense_Mutation_p.Y587C|ZNF12_ENST00000342651.5_Missense_Mutation_p.Y623C|AC073343.2_ENST00000577401.1_RNA|AC073343.13_ENST00000366167.2_RNA	NM_006956.2|NM_016265.3	NP_008887.2|NP_057349.2	P17014	ZNF12_HUMAN	zinc finger protein 12	661					negative regulation of transcription, DNA-templated (GO:0045892)|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.Y661C(1)		NS(2)|endometrium(1)|large_intestine(1)|lung(7)|prostate(2)|upper_aerodigestive_tract(3)	16		Ovarian(82;0.0776)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0231)		AGTACACTCATAGGGTTTCTC	0.393																																						uc003sqt.1																			1	Substitution - Missense(1)		lung(1)		0						c.(1981-1983)TAT>TGT		zinc finger protein 12 isoform a							77.0	82.0	80.0					7																	6730591		2180	4296	6476	SO:0001583	missense	7559				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr7:6730591T>C	X52334, AB021643	CCDS47538.1, CCDS47539.1	7p21.1	2013-01-08	2005-06-09		ENSG00000164631	ENSG00000164631		"""Zinc fingers, C2H2-type"", ""-"""	12902	protein-coding gene	gene with protein product		194536	"""zinc finger protein 325"""	ZNF325			Standard	NM_016265		Approved	KOX3, GIOT-3	uc003sqt.1	P17014	OTTHUMG00000151910	ENST00000405858.1:c.1982A>G	7.37:g.6730591T>C	ENSP00000385939:p.Tyr661Cys					ZNF12_uc011jxa.1_Missense_Mutation_p.Y499C|ZNF12_uc003sqs.1_Missense_Mutation_p.Y623C	p.Y661C	NM_016265	NP_057349	P17014	ZNF12_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.0231)	5	2536	-		Ovarian(82;0.0776)	661			C2H2-type 15.		A8MYC4|A8WFQ8|B2RNQ7|B4DF45|Q6N016|Q8NHZ0|Q9H9P0|Q9ULZ6	Missense_Mutation	SNP	ENST00000405858.1	37	c.1982A>G	CCDS47538.1	.	.	.	.	.	.	.	.	.	.	T	14.14	2.445632	0.43429	.	.	ENSG00000164631	ENST00000404360;ENST00000405858;ENST00000342651;ENST00000399476	T;T;T	0.25414	1.8;1.8;1.8	4.18	4.18	0.49190	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.36815	N	0.002391	T	0.48822	0.1521	M	0.83384	2.64	0.36789	D	0.88473	D;P	0.89917	1.0;0.931	D;B	0.91635	0.999;0.395	T	0.58674	-0.7595	10	0.54805	T	0.06	.	7.2007	0.25879	0.1981:0.0:0.0:0.8018	.	661;623	P17014;P17014-5	ZNF12_HUMAN;.	C	587;661;623;719	ENSP00000384405:Y587C;ENSP00000385939:Y661C;ENSP00000344745:Y623C	ENSP00000344745:Y623C	Y	-	2	0	ZNF12	6697116	0.026000	0.19158	1.000000	0.80357	0.967000	0.64934	0.174000	0.16743	2.119000	0.64992	0.533000	0.62120	TAT		PASS	0.393	ZNF12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000324373.2	NM_016265		18	91	18	91	---	---	---	---
ICA1	3382	broad.mit.edu	37	7	8167591	8167591	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2756-01A-01D-1522-08	TCGA-66-2756-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	472c95e6-eccb-4988-be16-fdace73b2ed8	ff4f5936-f847-42ad-aedf-6a6a7fff6002	g.chr7:8167591C>A	ENST00000402384.3	-	13	1508	c.1242G>T	c.(1240-1242)gaG>gaT	p.E414D	ICA1_ENST00000265577.7_Missense_Mutation_p.E413D|ICA1_ENST00000401396.1_Missense_Mutation_p.E402D|ICA1_ENST00000422063.2_Missense_Mutation_p.E443D|ICA1_ENST00000406470.2_Missense_Mutation_p.E414D|ICA1_ENST00000396675.3_Missense_Mutation_p.E414D			Q05084	ICA69_HUMAN	islet cell autoantigen 1, 69kDa	414					neurotransmitter transport (GO:0006836)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi membrane (GO:0000139)|secretory granule membrane (GO:0030667)|synaptic vesicle membrane (GO:0030672)		p.E414D(1)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(8)|urinary_tract(1)	23		Ovarian(82;0.0612)		UCEC - Uterine corpus endometrioid carcinoma (126;0.246)		TGGGGTCTGGCTCTCCCAGGG	0.552																																						uc003srm.2																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1						c.(1240-1242)GAG>GAT		islet cell autoantigen 1							129.0	139.0	135.0					7																	8167591		2203	4300	6503	SO:0001583	missense	3382				neurotransmitter transport	cell junction|cytosol|Golgi membrane|nucleus|secretory granule membrane|synaptic vesicle membrane|transport vesicle membrane		g.chr7:8167591C>A		CCDS34602.1, CCDS64595.1	7p22	2006-12-13	2002-08-29		ENSG00000003147	ENSG00000003147			5343	protein-coding gene	gene with protein product		147625	"""islet cell autoantigen 1 (69kD)"""			7918678, 8777998	Standard	NM_001276478		Approved	ICAp69	uc003srm.3	Q05084	OTTHUMG00000152008	ENST00000402384.3:c.1242G>T	7.37:g.8167591C>A	ENSP00000385570:p.Glu414Asp					ICA1_uc010ktr.2_Missense_Mutation_p.E443D|ICA1_uc003srl.2_Missense_Mutation_p.E402D|ICA1_uc003srn.3_Missense_Mutation_p.E340D|ICA1_uc003srp.3_Missense_Mutation_p.E413D|ICA1_uc010kts.2_RNA|ICA1_uc003srq.2_Missense_Mutation_p.E414D|ICA1_uc003srr.2_Missense_Mutation_p.E413D|ICA1_uc003sro.3_Missense_Mutation_p.E414D	p.E414D	NM_022307	NP_071682	Q05084	ICA69_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.246)	13	1309	-		Ovarian(82;0.0612)	414					A8K7U1|B3FTQ2|P78506|Q13824|Q96HG3	Missense_Mutation	SNP	ENST00000402384.3	37	c.1242G>T	CCDS34602.1	.	.	.	.	.	.	.	.	.	.	C	9.402	1.078221	0.20227	.	.	ENSG00000003147	ENST00000402384;ENST00000406470;ENST00000265577;ENST00000396675;ENST00000401396;ENST00000422063	.	.	.	5.64	2.69	0.31865	Islet cell autoantigen Ica1, C-terminal (1);	0.334775	0.31909	N	0.006868	T	0.18425	0.0442	N	0.08118	0	0.31465	N	0.669096	B;B;B;B	0.17268	0.015;0.007;0.005;0.021	B;B;B;B	0.21360	0.034;0.022;0.022;0.012	T	0.16571	-1.0398	9	0.15066	T	0.55	-24.1155	6.019	0.19618	0.0:0.6408:0.1375:0.2217	.	443;413;414;402	B3FTQ2;Q96HG3;Q05084;E9PDL4	.;.;ICA69_HUMAN;.	D	414;414;413;414;402;443	.	ENSP00000265577:E413D	E	-	3	2	ICA1	8134116	0.112000	0.22096	1.000000	0.80357	0.156000	0.22039	-0.086000	0.11233	0.861000	0.35504	0.591000	0.81541	GAG		PASS	0.552	ICA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000324793.1	NM_004968		157	153	157	153	---	---	---	---
OSBPL3	26031	broad.mit.edu	37	7	24874224	24874224	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2756-01A-01D-1522-08	TCGA-66-2756-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	472c95e6-eccb-4988-be16-fdace73b2ed8	ff4f5936-f847-42ad-aedf-6a6a7fff6002	g.chr7:24874224C>A	ENST00000313367.2	-	15	2078	c.1627G>T	c.(1627-1629)Gtg>Ttg	p.V543L	OSBPL3_ENST00000353930.1_Missense_Mutation_p.V507L|OSBPL3_ENST00000396429.1_Missense_Mutation_p.V507L|OSBPL3_ENST00000396431.1_Missense_Mutation_p.V512L|OSBPL3_ENST00000431825.2_Missense_Mutation_p.V476L|OSBPL3_ENST00000352860.1_Missense_Mutation_p.V512L|OSBPL3_ENST00000409069.1_Missense_Mutation_p.V476L	NM_015550.2	NP_056365.1	Q9H4L5	OSBL3_HUMAN	oxysterol binding protein-like 3	543					lipid transport (GO:0006869)	cytosol (GO:0005829)|membrane (GO:0016020)|nuclear membrane (GO:0031965)|perinuclear endoplasmic reticulum (GO:0097038)|plasma membrane (GO:0005886)	cholesterol binding (GO:0015485)	p.V543L(1)		breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(19)|prostate(1)|skin(3)|urinary_tract(1)	43						GGCATGGCCACCTTGGACAGG	0.632																																						uc003sxf.2																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(1627-1629)GTG>TTG		oxysterol-binding protein-like protein 3 isoform							98.0	82.0	87.0					7																	24874224		2203	4300	6503	SO:0001583	missense	26031				lipid transport		lipid binding|protein binding	g.chr7:24874224C>A	AB014604	CCDS5390.1, CCDS5391.1, CCDS5392.1, CCDS47564.1	7p15.3	2013-01-10			ENSG00000070882	ENSG00000070882		"""Oxysterol binding proteins"", ""Pleckstrin homology (PH) domain containing"""	16370	protein-coding gene	gene with protein product		606732		OSBP3		9734811	Standard	XM_005249698		Approved	ORP-3, ORP3, KIAA0704	uc003sxf.3	Q9H4L5	OTTHUMG00000023277	ENST00000313367.2:c.1627G>T	7.37:g.24874224C>A	ENSP00000315410:p.Val543Leu					OSBPL3_uc003sxd.2_RNA|OSBPL3_uc003sxe.2_RNA|OSBPL3_uc003sxg.2_Missense_Mutation_p.V507L|OSBPL3_uc003sxh.2_Missense_Mutation_p.V512L|OSBPL3_uc003sxi.2_Missense_Mutation_p.V476L|OSBPL3_uc003sxj.1_Missense_Mutation_p.V272L|OSBPL3_uc003sxk.1_Missense_Mutation_p.V241L	p.V543L	NM_015550	NP_056365	Q9H4L5	OSBL3_HUMAN			15	2032	-			543					A4D167|A4D168|A4D169|A4D170|A4D171|A4D172|B8ZZ79|B8ZZP0|O14591|O43357|O43358|Q8N702|Q8N703|Q8N704|Q8NFH0|Q8NFH1|Q8NI12|Q8NI13|Q9BZF4|Q9UED6	Missense_Mutation	SNP	ENST00000313367.2	37	c.1627G>T	CCDS5390.1	.	.	.	.	.	.	.	.	.	.	C	37	6.158326	0.97334	.	.	ENSG00000070882	ENST00000313367;ENST00000352860;ENST00000353930;ENST00000431825;ENST00000396431;ENST00000396429;ENST00000409069	T;T;T;T;T;T;T	0.31769	1.48;1.48;1.48;1.48;1.48;1.48;1.48	5.85	5.85	0.93711	.	0.000000	0.85682	D	0.000000	T	0.58680	0.2139	M	0.70903	2.155	0.80722	D	1	D;D;D;D;D;D	0.89917	0.993;1.0;1.0;1.0;0.994;1.0	D;D;D;D;P;D	0.91635	0.972;0.999;0.998;0.999;0.891;0.999	T	0.58601	-0.7608	10	0.72032	D	0.01	-0.7152	20.17	0.98157	0.0:1.0:0.0:0.0	.	476;507;476;512;507;543	Q9H4L5-8;Q9H4L5-7;Q9H4L5-4;Q9H4L5-2;Q9H4L5-3;Q9H4L5	.;.;.;.;.;OSBL3_HUMAN	L	543;512;507;476;512;507;476	ENSP00000315410:V543L;ENSP00000315331:V512L;ENSP00000315277:V507L;ENSP00000389779:V476L;ENSP00000379708:V512L;ENSP00000379706:V507L;ENSP00000386953:V476L	ENSP00000315410:V543L	V	-	1	0	OSBPL3	24840749	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.764000	0.85297	2.775000	0.95449	0.467000	0.42956	GTG		PASS	0.632	OSBPL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214085.2			51	50	51	50	---	---	---	---
NOD1	10392	broad.mit.edu	37	7	30475671	30475671	+	Missense_Mutation	SNP	T	T	C			TCGA-66-2756-01A-01D-1522-08	TCGA-66-2756-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	472c95e6-eccb-4988-be16-fdace73b2ed8	ff4f5936-f847-42ad-aedf-6a6a7fff6002	g.chr7:30475671T>C	ENST00000222823.4	-	11	3089	c.2564A>G	c.(2563-2565)gAa>gGa	p.E855G		NM_006092.2	NP_006083.1	Q9Y239	NOD1_HUMAN	nucleotide-binding oligomerization domain containing 1	855					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of MAPK activity (GO:0000187)|apoptotic process (GO:0006915)|defense response (GO:0006952)|defense response to bacterium (GO:0042742)|defense response to Gram-positive bacterium (GO:0050830)|detection of bacterium (GO:0016045)|detection of biotic stimulus (GO:0009595)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|interleukin-8 biosynthetic process (GO:0042228)|intracellular signal transduction (GO:0035556)|JNK cascade (GO:0007254)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of dendritic cell antigen processing and presentation (GO:0002606)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of JNK cascade (GO:0046330)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of tumor necrosis factor production (GO:0032760)|protein oligomerization (GO:0051259)|signal transduction (GO:0007165)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|cytosol (GO:0005829)	ATP binding (GO:0005524)|CARD domain binding (GO:0050700)|cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)|identical protein binding (GO:0042802)|peptidoglycan binding (GO:0042834)|protein homodimerization activity (GO:0042803)	p.E855G(1)		breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(2)|prostate(1)|skin(2)	39						CTTTCCTCCTTCTGTGGAGAT	0.438																																						uc003tav.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(2563-2565)GAA>GGA		nucleotide-binding oligomerization domain							120.0	99.0	106.0					7																	30475671		2203	4300	6503	SO:0001583	missense	10392				activation of MAPK activity|detection of bacterium|induction of apoptosis|inflammatory response|innate immune response|interleukin-8 biosynthetic process|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of dendritic cell antigen processing and presentation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|protein oligomerization|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	basolateral plasma membrane|cytosol	ATP binding|CARD domain binding|caspase activator activity|peptidoglycan binding|protein homodimerization activity	g.chr7:30475671T>C	AF126484	CCDS5427.1	7p15-p14	2006-12-08	2006-12-08	2006-12-08	ENSG00000106100	ENSG00000106100		"""Nucleotide-binding domain and leucine rich repeat containing"""	16390	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and CARD domain containing 1"", ""NLR family, CARD domain containing 1"""	605980	"""caspase recruitment domain family, member 4"""	CARD4		10224040, 10329646	Standard	NM_006092		Approved	NLRC1, CLR7.1	uc003tav.3	Q9Y239	OTTHUMG00000023923	ENST00000222823.4:c.2564A>G	7.37:g.30475671T>C	ENSP00000222823:p.Glu855Gly						p.E855G	NM_006092	NP_006083	Q9Y239	NOD1_HUMAN			11	3087	-			855			LRR 6.		B4DTU3|Q549U4|Q8IWF5	Missense_Mutation	SNP	ENST00000222823.4	37	c.2564A>G	CCDS5427.1	.	.	.	.	.	.	.	.	.	.	T	18.22	3.575258	0.65878	.	.	ENSG00000106100	ENST00000222823	T	0.55930	0.49	5.34	5.34	0.76211	.	0.156711	0.56097	D	0.000027	T	0.71134	0.3304	M	0.85945	2.785	0.80722	D	1	D	0.69078	0.997	D	0.64042	0.921	T	0.72343	-0.4322	10	0.30854	T	0.27	.	12.7069	0.57065	0.0:0.0:0.0:1.0	.	855	Q9Y239	NOD1_HUMAN	G	855	ENSP00000222823:E855G	ENSP00000222823:E855G	E	-	2	0	NOD1	30442196	1.000000	0.71417	0.996000	0.52242	0.693000	0.40251	3.059000	0.49947	2.030000	0.59900	0.533000	0.62120	GAA		PASS	0.438	NOD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250443.2			14	50	14	50	---	---	---	---
SFRP4	6424	broad.mit.edu	37	7	37955994	37955994	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2756-01A-01D-1522-08	TCGA-66-2756-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	472c95e6-eccb-4988-be16-fdace73b2ed8	ff4f5936-f847-42ad-aedf-6a6a7fff6002	g.chr7:37955994C>T	ENST00000436072.2	-	1	523	c.146G>A	c.(145-147)aGc>aAc	p.S49N	EPDR1_ENST00000476620.1_Intron	NM_003014.3	NP_003005.2	Q6FHJ7	SFRP4_HUMAN	secreted frizzled-related protein 4	49	FZ. {ECO:0000255|PROSITE- ProRule:PRU00090}.				brain development (GO:0007420)|cell differentiation (GO:0030154)|decidualization (GO:0046697)|epithelium development (GO:0060429)|gonad development (GO:0008406)|mammary gland involution (GO:0060056)|menstrual cycle phase (GO:0022601)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell proliferation (GO:0008285)|negative regulation of JNK cascade (GO:0046329)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of sodium-dependent phosphate transport (GO:2000119)|phosphate ion homeostasis (GO:0055062)|positive regulation of apoptotic process (GO:0043065)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of epidermal cell differentiation (GO:0045606)|positive regulation of gene expression (GO:0010628)|positive regulation of keratinocyte apoptotic process (GO:1902174)|positive regulation of receptor internalization (GO:0002092)|response to hormone (GO:0009725)|vasculature development (GO:0001944)|Wnt signaling pathway (GO:0016055)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|nucleus (GO:0005634)	PDZ domain binding (GO:0030165)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)	p.S49N(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	29						CTCCTGCGTGCTGTGGTGCAG	0.672																																						uc003tfo.3																			1	Substitution - Missense(1)		lung(1)	lung(1)	1						c.(145-147)AGC>AAC		secreted frizzled-related  protein 4 precursor							162.0	129.0	140.0					7																	37955994		2203	4300	6503	SO:0001583	missense	6424				brain development|cell differentiation|decidualization|embryo development|epithelium development|gonad development|mammary gland involution|menstrual cycle phase|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cell proliferation|negative regulation of JNK cascade|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of sodium-dependent phosphate transport|phosphate ion homeostasis|positive regulation of apoptosis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of epidermal cell differentiation|positive regulation of gene expression|positive regulation of receptor internalization|vasculature development|Wnt receptor signaling pathway	cell surface|cytoplasm|extracellular space|nucleus	PDZ domain binding|Wnt receptor activity|Wnt-protein binding	g.chr7:37955994C>T	AF026692	CCDS5453.1	7p14.1	2008-07-18			ENSG00000106483	ENSG00000106483		"""Secreted frizzled-related proteins"""	10778	protein-coding gene	gene with protein product		606570				10211996	Standard	NM_003014		Approved	frpHE, FRP-4, FRPHE	uc003tfo.4	Q6FHJ7	OTTHUMG00000023026	ENST00000436072.2:c.146G>A	7.37:g.37955994C>T	ENSP00000410715:p.Ser49Asn						p.S49N	NM_003014	NP_003005	Q6FHJ7	SFRP4_HUMAN			1	532	-			49			FZ.		B4DYC1|O14877|Q05BG7|Q1ZYW2|Q4G124|Q6FHM0|Q6PD64	Missense_Mutation	SNP	ENST00000436072.2	37	c.146G>A	CCDS5453.1	.	.	.	.	.	.	.	.	.	.	C	32	5.148592	0.94603	.	.	ENSG00000106483	ENST00000436072;ENST00000446575	T	0.75821	-0.97	4.62	4.62	0.57501	Frizzled domain (5);	0.000000	0.85682	D	0.000000	T	0.81842	0.4908	L	0.52126	1.63	0.53688	D	0.999978	P	0.45569	0.861	P	0.61132	0.884	D	0.83695	0.0179	10	0.72032	D	0.01	.	16.3894	0.83528	0.0:1.0:0.0:0.0	.	49	Q6FHJ7	SFRP4_HUMAN	N	49;71	ENSP00000410715:S49N	ENSP00000410715:S49N	S	-	2	0	SFRP4	37922519	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	4.649000	0.61433	2.376000	0.81061	0.557000	0.71058	AGC		PASS	0.672	SFRP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000220017.2	NM_003014		55	49	55	49	---	---	---	---
SFRP4	6424	broad.mit.edu	37	7	37956126	37956126	+	Missense_Mutation	SNP	A	A	T			TCGA-66-2756-01A-01D-1522-08	TCGA-66-2756-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	472c95e6-eccb-4988-be16-fdace73b2ed8	ff4f5936-f847-42ad-aedf-6a6a7fff6002	g.chr7:37956126A>T	ENST00000436072.2	-	1	391	c.14T>A	c.(13-15)aTc>aAc	p.I5N	EPDR1_ENST00000476620.1_Intron	NM_003014.3	NP_003005.2	Q6FHJ7	SFRP4_HUMAN	secreted frizzled-related protein 4	5					brain development (GO:0007420)|cell differentiation (GO:0030154)|decidualization (GO:0046697)|epithelium development (GO:0060429)|gonad development (GO:0008406)|mammary gland involution (GO:0060056)|menstrual cycle phase (GO:0022601)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell proliferation (GO:0008285)|negative regulation of JNK cascade (GO:0046329)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of sodium-dependent phosphate transport (GO:2000119)|phosphate ion homeostasis (GO:0055062)|positive regulation of apoptotic process (GO:0043065)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of epidermal cell differentiation (GO:0045606)|positive regulation of gene expression (GO:0010628)|positive regulation of keratinocyte apoptotic process (GO:1902174)|positive regulation of receptor internalization (GO:0002092)|response to hormone (GO:0009725)|vasculature development (GO:0001944)|Wnt signaling pathway (GO:0016055)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|nucleus (GO:0005634)	PDZ domain binding (GO:0030165)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)	p.I5N(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	29						CGCCACTAGGATGGAGAGGAA	0.677																																						uc003tfo.3																			1	Substitution - Missense(1)		lung(1)	lung(1)	1						c.(13-15)ATC>AAC		secreted frizzled-related  protein 4 precursor							31.0	29.0	30.0					7																	37956126		2203	4294	6497	SO:0001583	missense	6424				brain development|cell differentiation|decidualization|embryo development|epithelium development|gonad development|mammary gland involution|menstrual cycle phase|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cell proliferation|negative regulation of JNK cascade|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of sodium-dependent phosphate transport|phosphate ion homeostasis|positive regulation of apoptosis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of epidermal cell differentiation|positive regulation of gene expression|positive regulation of receptor internalization|vasculature development|Wnt receptor signaling pathway	cell surface|cytoplasm|extracellular space|nucleus	PDZ domain binding|Wnt receptor activity|Wnt-protein binding	g.chr7:37956126A>T	AF026692	CCDS5453.1	7p14.1	2008-07-18			ENSG00000106483	ENSG00000106483		"""Secreted frizzled-related proteins"""	10778	protein-coding gene	gene with protein product		606570				10211996	Standard	NM_003014		Approved	frpHE, FRP-4, FRPHE	uc003tfo.4	Q6FHJ7	OTTHUMG00000023026	ENST00000436072.2:c.14T>A	7.37:g.37956126A>T	ENSP00000410715:p.Ile5Asn						p.I5N	NM_003014	NP_003005	Q6FHJ7	SFRP4_HUMAN			1	400	-			5					B4DYC1|O14877|Q05BG7|Q1ZYW2|Q4G124|Q6FHM0|Q6PD64	Missense_Mutation	SNP	ENST00000436072.2	37	c.14T>A	CCDS5453.1	.	.	.	.	.	.	.	.	.	.	A	15.08	2.725940	0.48833	.	.	ENSG00000106483	ENST00000436072;ENST00000446575	T	0.65732	-0.17	4.62	2.1	0.27182	.	1.386070	0.04259	N	0.340028	T	0.45377	0.1339	N	0.08118	0	0.09310	N	1	B	0.12630	0.006	B	0.06405	0.002	T	0.41840	-0.9486	10	0.72032	D	0.01	.	9.7258	0.40330	0.6523:0.3477:0.0:0.0	.	5	Q6FHJ7	SFRP4_HUMAN	N	5;27	ENSP00000410715:I5N	ENSP00000410715:I5N	I	-	2	0	SFRP4	37922651	0.036000	0.19791	0.001000	0.08648	0.070000	0.16714	2.122000	0.41987	0.748000	0.32831	0.455000	0.32223	ATC		PASS	0.677	SFRP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000220017.2	NM_003014		14	13	14	13	---	---	---	---
C7orf57	136288	broad.mit.edu	37	7	48086126	48086126	+	Silent	SNP	C	C	T			TCGA-66-2756-01A-01D-1522-08	TCGA-66-2756-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	472c95e6-eccb-4988-be16-fdace73b2ed8	ff4f5936-f847-42ad-aedf-6a6a7fff6002	g.chr7:48086126C>T	ENST00000348904.3	+	5	632	c.420C>T	c.(418-420)agC>agT	p.S140S	C7orf57_ENST00000435376.1_Silent_p.S18S|C7orf57_ENST00000539619.1_Silent_p.S140S|C7orf57_ENST00000420324.1_Silent_p.S185S|C7orf57_ENST00000430738.1_Silent_p.S185S	NM_001100159.2	NP_001093629.1	Q8NEG2	CG057_HUMAN	chromosome 7 open reading frame 57	140								p.S140S(2)		breast(1)|endometrium(2)|large_intestine(1)|lung(4)|ovary(1)	9						CCAATGGTAGCTATGCATCCA	0.498																																						uc003toh.3																			2	Substitution - coding silent(2)		lung(2)	ovary(1)	1						c.(418-420)AGC>AGT		hypothetical protein LOC136288							67.0	63.0	64.0					7																	48086126		1989	4153	6142	SO:0001819	synonymous_variant	136288							g.chr7:48086126C>T	BC031107	CCDS47583.1, CCDS59054.1, CCDS75594.1	7p12.3	2011-11-25			ENSG00000164746	ENSG00000164746			22247	protein-coding gene	gene with protein product							Standard	NM_001100159		Approved		uc003toh.5	Q8NEG2	OTTHUMG00000155808	ENST00000348904.3:c.420C>T	7.37:g.48086126C>T						C7orf57_uc003toi.3_Silent_p.S14S	p.S140S	NM_001100159	NP_001093629	Q8NEG2	CG057_HUMAN			5	632	+			140					C9JBJ8	Silent	SNP	ENST00000348904.3	37	c.420C>T	CCDS47583.1																																																																																				PASS	0.498	C7orf57-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000341745.1	NM_001100159		6	16	6	16	---	---	---	---
DDC	1644	broad.mit.edu	37	7	50531071	50531071	+	Missense_Mutation	SNP	T	T	A			TCGA-66-2756-01A-01D-1522-08	TCGA-66-2756-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	472c95e6-eccb-4988-be16-fdace73b2ed8	ff4f5936-f847-42ad-aedf-6a6a7fff6002	g.chr7:50531071T>A	ENST00000444124.2	-	14	1501	c.1301A>T	c.(1300-1302)cAc>cTc	p.H434L	DDC_ENST00000357936.5_Missense_Mutation_p.H434L|DDC_ENST00000426377.1_Missense_Mutation_p.H356L|DDC_ENST00000431062.1_Missense_Mutation_p.H341L	NM_001082971.1	NP_001076440	P20711	DDC_HUMAN	dopa decarboxylase (aromatic L-amino acid decarboxylase)	434					catecholamine biosynthetic process (GO:0042423)|cellular amino acid metabolic process (GO:0006520)|cellular nitrogen compound metabolic process (GO:0034641)|cellular response to alkaloid (GO:0071312)|cellular response to drug (GO:0035690)|cellular response to growth factor stimulus (GO:0071363)|circadian rhythm (GO:0007623)|dopamine biosynthetic process (GO:0042416)|indolalkylamine biosynthetic process (GO:0046219)|isoquinoline alkaloid metabolic process (GO:0033076)|multicellular organismal aging (GO:0010259)|phytoalexin metabolic process (GO:0052314)|response to pyrethroid (GO:0046684)|serotonin biosynthetic process (GO:0042427)|small molecule metabolic process (GO:0044281)|synaptic vesicle amine transport (GO:0015842)	axon (GO:0030424)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|neuronal cell body (GO:0043025)|synaptic vesicle (GO:0008021)	amino acid binding (GO:0016597)|aromatic-L-amino-acid decarboxylase activity (GO:0004058)|enzyme binding (GO:0019899)|L-dopa decarboxylase activity (GO:0036468)|pyridoxal phosphate binding (GO:0030170)	p.H434L(1)		breast(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(23)|ovary(4)|skin(2)|stomach(1)	40	Glioma(55;0.08)|all_neural(89;0.245)				Amantadine(DB00915)|Carbidopa(DB00190)|Cycloserine(DB00260)|Droxidopa(DB06262)|Flupentixol(DB00875)|L-DOPA(DB01235)|L-Tryptophan(DB00150)|Methyldopa(DB00968)	TGGAACCAAGTGGATTTTTTT	0.502																																						uc003tpf.3																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(1300-1302)CAC>CTC		dopa decarboxylase (aromatic L-amino acid	Amantadine(DB00915)|Carbidopa(DB00190)|Flupenthixol(DB00875)|L-Tryptophan(DB00150)|Levodopa(DB01235)|Pimozide(DB01100)|Pyridoxal Phosphate(DB00114)|Remoxipride(DB00409)						169.0	156.0	161.0					7																	50531071		2203	4300	6503	SO:0001583	missense	1644				cellular amino acid metabolic process|hormone biosynthetic process|neurotransmitter secretion	cytosol	aromatic-L-amino-acid decarboxylase activity|protein binding|pyridoxal phosphate binding	g.chr7:50531071T>A		CCDS5511.1, CCDS56485.1, CCDS56486.1, CCDS56487.1, CCDS75598.1, CCDS75599.1	7p12.1	2012-08-30			ENSG00000132437	ENSG00000132437	4.1.1.28		2719	protein-coding gene	gene with protein product		107930				1612608	Standard	NM_001082971		Approved	AADC	uc003tpf.4	P20711	OTTHUMG00000023353	ENST00000444124.2:c.1301A>T	7.37:g.50531071T>A	ENSP00000403644:p.His434Leu					DDC_uc010kza.2_Missense_Mutation_p.H349L|DDC_uc003tpg.3_Missense_Mutation_p.H434L	p.H434L	NM_000790	NP_000781	P20711	DDC_HUMAN			14	1387	-	Glioma(55;0.08)|all_neural(89;0.245)		434					C9IYA0|E7ER62|E7EU95|Q16723|Q5W5T9|Q75MJ6	Missense_Mutation	SNP	ENST00000444124.2	37	c.1301A>T	CCDS5511.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	24.2|24.2	4.502517|4.502517	0.85176|0.85176	.|.	.|.	ENSG00000132437|ENSG00000132437	ENST00000357936;ENST00000431062;ENST00000426377;ENST00000444124|ENST00000430300	T;T;T;T|.	0.34859|.	1.34;1.34;1.34;1.34|.	5.44|5.44	5.44|5.44	0.79542|0.79542	Pyridoxal phosphate-dependent transferase, major region, subdomain 2 (1);Pyridoxal phosphate-dependent transferase, major domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|D	0.84325|0.84325	0.5447|0.5447	M|M	0.91038|0.91038	3.17|3.17	0.80722|0.80722	D|D	1|1	P;P|.	0.47962|.	0.903;0.903|.	B;B|.	0.40165|.	0.321;0.321|.	D|D	0.87995|0.87995	0.2752|0.2752	10|5	0.87932|.	D|.	0|.	-34.7086|-34.7086	15.4966|15.4966	0.75658|0.75658	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	434;434|.	Q53Y41;P20711|.	.;DDC_HUMAN|.	L|S	434;341;356;434|315	ENSP00000350616:H434L;ENSP00000399184:H341L;ENSP00000395069:H356L;ENSP00000403644:H434L|.	ENSP00000350616:H434L|.	H|T	-|-	2|1	0|0	DDC|DDC	50498565|50498565	1.000000|1.000000	0.71417|0.71417	0.996000|0.996000	0.52242|0.52242	0.804000|0.804000	0.45430|0.45430	7.576000|7.576000	0.82467|0.82467	2.054000|2.054000	0.61138|0.61138	0.533000|0.533000	0.62120|0.62120	CAC|ACT		PASS	0.502	DDC-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342593.1			18	55	18	55	---	---	---	---
VSTM2A	222008	broad.mit.edu	37	7	54636708	54636708	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2756-01A-01D-1522-08	TCGA-66-2756-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	472c95e6-eccb-4988-be16-fdace73b2ed8	ff4f5936-f847-42ad-aedf-6a6a7fff6002	g.chr7:54636708G>T	ENST00000407838.3	+	5	1047	c.641G>T	c.(640-642)aGg>aTg	p.R214M	GS1-18A18.1_ENST00000456049.1_RNA|VSTM2A_ENST00000404951.1_Intron|VSTM2A_ENST00000402613.3_Intron|VSTM2A_ENST00000498834.1_Intron	NM_182546.2	NP_872352.2	Q8TAG5	VTM2A_HUMAN	V-set and transmembrane domain containing 2A	214						extracellular region (GO:0005576)		p.R214M(1)		endometrium(1)|large_intestine(2)|lung(12)|prostate(1)	16			STAD - Stomach adenocarcinoma(5;0.0525)			GCAGGTGCGAGGATAGCTACA	0.368																																						uc010kzf.2																			1	Substitution - Missense(1)		lung(1)		0						c.(640-642)AGG>ATG		V-set and transmembrane domain containing 2							181.0	169.0	173.0					7																	54636708		1878	4102	5980	SO:0001583	missense	222008					extracellular region		g.chr7:54636708G>T	BC028404	CCDS5512.2, CCDS75604.1	7p11.2	2013-01-11	2007-08-10	2007-08-10	ENSG00000170419	ENSG00000170419		"""Immunoglobulin superfamily / V-set domain containing"""	28499	protein-coding gene	gene with protein product			"""V-set and transmembrane domain containing 2"""	VSTM2		12477932	Standard	XM_006715663		Approved	MGC33530	uc010kzf.3	Q8TAG5	OTTHUMG00000129271	ENST00000407838.3:c.641G>T	7.37:g.54636708G>T	ENSP00000384967:p.Arg214Met					VSTM2A_uc003tqc.3_Intron|uc003tqd.2_5'Flank	p.R214M	NM_182546	NP_872352	Q8TAG5	VTM2A_HUMAN	STAD - Stomach adenocarcinoma(5;0.0525)		5	1046	+			214					A4D2E9|B5MC94	Missense_Mutation	SNP	ENST00000407838.3	37	c.641G>T	CCDS5512.2	.	.	.	.	.	.	.	.	.	.	G	14.53	2.561640	0.45590	.	.	ENSG00000170419	ENST00000407838	T	0.47177	0.85	6.09	6.09	0.99107	.	.	.	.	.	T	0.57330	0.2046	L	0.29908	0.895	0.80722	D	1	D	0.61697	0.99	D	0.71656	0.974	T	0.54159	-0.8335	9	0.46703	T	0.11	.	16.195	0.82021	0.0:0.0:1.0:0.0	.	214	Q8TAG5	VTM2A_HUMAN	M	214	ENSP00000384967:R214M	ENSP00000384967:R214M	R	+	2	0	VSTM2A	54604202	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.050000	0.76620	2.899000	0.99337	0.655000	0.94253	AGG		PASS	0.368	VSTM2A-003	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318694.1	NM_182546		3	8	3	8	---	---	---	---
SEPT14	346288	broad.mit.edu	37	7	55910723	55910723	+	Missense_Mutation	SNP	C	C	A	rs377272369		TCGA-66-2756-01A-01D-1522-08	TCGA-66-2756-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	472c95e6-eccb-4988-be16-fdace73b2ed8	ff4f5936-f847-42ad-aedf-6a6a7fff6002	g.chr7:55910723C>A	ENST00000388975.3	-	5	586	c.470G>T	c.(469-471)cGc>cTc	p.R157L	SEPT14_ENST00000477628.1_5'Flank	NM_207366.2	NP_997249.2	Q6ZU15	SEP14_HUMAN	septin 14	157	Septin-type G.				cell cycle (GO:0007049)|cell division (GO:0051301)	septin complex (GO:0031105)	GTP binding (GO:0005525)	p.R157L(1)		haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(15)|skin(2)	23	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			CACGTGGACGCGAGAATCATG	0.398																																						uc003tqz.2																			1	Substitution - Missense(1)		lung(1)		0						c.(469-471)CGC>CTC		septin 14							99.0	90.0	93.0					7																	55910723		1902	4131	6033	SO:0001583	missense	346288				cell cycle|cell division	septin complex	GTP binding|protein binding	g.chr7:55910723C>A	AK126048	CCDS5519.2	7p11.2	2013-01-21			ENSG00000154997	ENSG00000154997		"""Septins"""	33280	protein-coding gene	gene with protein product		612140					Standard	NM_207366		Approved	FLJ44060	uc003tqz.2	Q6ZU15	OTTHUMG00000129341	ENST00000388975.3:c.470G>T	7.37:g.55910723C>A	ENSP00000373627:p.Arg157Leu						p.R157L	NM_207366	NP_997249	Q6ZU15	SEP14_HUMAN	Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)		5	587	-	Breast(14;0.214)		157					A6NCC2|B4DXD6	Missense_Mutation	SNP	ENST00000388975.3	37	c.470G>T	CCDS5519.2	.	.	.	.	.	.	.	.	.	.	c	13.61	2.289370	0.40494	.	.	ENSG00000154997	ENST00000388975	T	0.69561	-0.41	4.33	3.45	0.39498	.	0.118949	0.36303	N	0.002680	D	0.86657	0.5985	H	0.97491	4.015	0.44719	D	0.997711	D	0.89917	1.0	D	0.97110	1.0	D	0.89217	0.3568	10	0.87932	D	0	.	10.9306	0.47215	0.0:0.9035:0.0:0.0965	.	157	Q6ZU15	SEP14_HUMAN	L	157	ENSP00000373627:R157L	ENSP00000373627:R157L	R	-	2	0	SEPT14	55878217	0.999000	0.42202	0.021000	0.16686	0.002000	0.02628	6.412000	0.73303	1.116000	0.41820	-0.119000	0.15052	CGC		PASS	0.398	SEPT14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251489.2	NM_207366		11	12	11	12	---	---	---	---
HGF	3082	broad.mit.edu	37	7	81331912	81331912	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2756-01A-01D-1522-08	TCGA-66-2756-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	472c95e6-eccb-4988-be16-fdace73b2ed8	ff4f5936-f847-42ad-aedf-6a6a7fff6002	g.chr7:81331912C>A	ENST00000222390.5	-	18	2398	c.2172G>T	c.(2170-2172)aaG>aaT	p.K724N	HGF_ENST00000457544.2_Missense_Mutation_p.K719N	NM_000601.4	NP_000592.3	P14210	HGF_HUMAN	hepatocyte growth factor (hepapoietin A; scatter factor)	724					activation of MAPK activity (GO:0000187)|blood coagulation (GO:0007596)|cell chemotaxis (GO:0060326)|cellular response to hepatocyte growth factor stimulus (GO:0035729)|epithelial to mesenchymal transition (GO:0001837)|hepatocyte growth factor receptor signaling pathway (GO:0048012)|hyaluronan metabolic process (GO:0030212)|liver development (GO:0001889)|mitotic nuclear division (GO:0007067)|myoblast proliferation (GO:0051450)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of hydrogen peroxide-mediated programmed cell death (GO:1901299)|negative regulation of release of cytochrome c from mitochondria (GO:0090201)|organ regeneration (GO:0031100)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive chemotaxis (GO:0050918)|positive regulation of cell migration (GO:0030335)|positive regulation of DNA biosynthetic process (GO:2000573)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of branching involved in salivary gland morphogenesis by mesenchymal-epithelial signaling (GO:0060665)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)|platelet alpha granule lumen (GO:0031093)	catalytic activity (GO:0003824)|chemoattractant activity (GO:0042056)|growth factor activity (GO:0008083)|identical protein binding (GO:0042802)	p.K724N(1)		NS(2)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(41)|ovary(2)|prostate(2)|skin(6)|urinary_tract(1)	75						ACTGTGGTACCTTATATGTTA	0.368																																						uc003uhl.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|central_nervous_system(2)	4						c.(2170-2172)AAG>AAT		hepatocyte growth factor isoform 1							133.0	129.0	130.0					7																	81331912		2203	4300	6503	SO:0001583	missense	3082				epithelial to mesenchymal transition|mitosis|platelet activation|platelet degranulation|proteolysis|regulation of branching involved in salivary gland morphogenesis by mesenchymal-epithelial signaling	platelet alpha granule lumen	growth factor activity|serine-type endopeptidase activity	g.chr7:81331912C>A		CCDS5597.1, CCDS47626.1, CCDS47627.1, CCDS47628.1, CCDS47629.1	7q21.1	2009-09-11			ENSG00000019991	ENSG00000019991			4893	protein-coding gene	gene with protein product	"""hepatopoietin A"", ""fibroblast-derived tumor cytotoxic factor"", ""scatter factor"", ""lung fibroblast-derived mitogen"""	142409	"""deafness, autosomal recessive 39"""	DFNB39		1837206, 19576567	Standard	XM_006715956		Approved	SF, F-TCF, HGFB, HPTA	uc003uhl.3	P14210	OTTHUMG00000023804	ENST00000222390.5:c.2172G>T	7.37:g.81331912C>A	ENSP00000222390:p.Lys724Asn					HGF_uc003uhm.2_Missense_Mutation_p.K719N	p.K724N	NM_000601	NP_000592	P14210	HGF_HUMAN			18	2337	-			724					A1L3U6|Q02935|Q13494|Q14519|Q3KRB2|Q8TCE2|Q9BYL9|Q9BYM0|Q9UDU6	Missense_Mutation	SNP	ENST00000222390.5	37	c.2172G>T	CCDS5597.1	.	.	.	.	.	.	.	.	.	.	C	13.33	2.204598	0.38905	.	.	ENSG00000019991	ENST00000222390;ENST00000457544	D;D	0.88431	-2.38;-2.36	5.3	-0.0089	0.14003	.	0.303370	0.34245	N	0.004127	D	0.83732	0.5318	N	0.11064	0.09	0.37718	D	0.924807	D;D	0.59357	0.985;0.975	P;P	0.57057	0.812;0.654	D	0.83539	0.0095	10	0.72032	D	0.01	.	10.4223	0.44356	0.0:0.4714:0.0:0.5286	.	719;724	P14210-3;P14210	.;HGF_HUMAN	N	724;719	ENSP00000222390:K724N;ENSP00000391238:K719N	ENSP00000222390:K724N	K	-	3	2	HGF	81169848	0.938000	0.31826	0.194000	0.23346	0.688000	0.40055	0.327000	0.19663	0.012000	0.14892	-0.136000	0.14681	AAG		PASS	0.368	HGF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253315.2	NM_000601		39	55	39	55	---	---	---	---
COL1A2	1278	broad.mit.edu	37	7	94039044	94039044	+	Missense_Mutation	SNP	G	G	T	rs72656392		TCGA-66-2756-01A-01D-1522-08	TCGA-66-2756-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	472c95e6-eccb-4988-be16-fdace73b2ed8	ff4f5936-f847-42ad-aedf-6a6a7fff6002	g.chr7:94039044G>T	ENST00000297268.6	+	19	1417	c.946G>T	c.(946-948)Ggc>Tgc	p.G316C		NM_000089.3	NP_000080.2	P08123	CO1A2_HUMAN	collagen, type I, alpha 2	316					blood coagulation (GO:0007596)|blood vessel development (GO:0001568)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|leukocyte migration (GO:0050900)|odontogenesis (GO:0042476)|platelet activation (GO:0030168)|protein heterotrimerization (GO:0070208)|regulation of blood pressure (GO:0008217)|Rho protein signal transduction (GO:0007266)|skeletal system development (GO:0001501)|skin morphogenesis (GO:0043589)|transforming growth factor beta receptor signaling pathway (GO:0007179)	collagen type I trimer (GO:0005584)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	extracellular matrix structural constituent (GO:0005201)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)|protein binding, bridging (GO:0030674)	p.G316C(1)	COL1A2/PLAG1(3)	NS(2)|breast(2)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(21)|lung(51)|ovary(2)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	115	all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08)		STAD - Stomach adenocarcinoma(171;0.0031)		Collagenase(DB00048)	GGGCCTTCCCGGCGTTGCTGG	0.567										HNSCC(75;0.22)																												uc003ung.1																		COL1A2/PLAG1(3)	1	Substitution - Missense(1)		lung(1)	soft_tissue(3)|central_nervous_system(3)|ovary(2)|skin(1)	9	GRCh37	CM070785	COL1A2	M	rs72656392	c.(946-948)GGC>TGC		alpha 2 type I collagen precursor	Collagenase(DB00048)						93.0	99.0	97.0					7																	94039044		2203	4300	6503	SO:0001583	missense	1278				axon guidance|blood vessel development|collagen fibril organization|leukocyte migration|odontogenesis|platelet activation|regulation of blood pressure|Rho protein signal transduction|skeletal system development|skin morphogenesis|transforming growth factor beta receptor signaling pathway	collagen type I|extracellular space|plasma membrane	extracellular matrix structural constituent|identical protein binding|platelet-derived growth factor binding|protein binding, bridging	g.chr7:94039044G>T	Z74616	CCDS34682.1	7q21.3	2014-09-17	2002-02-13		ENSG00000164692	ENSG00000164692		"""Collagens"""	2198	protein-coding gene	gene with protein product	"""alpha 2(I)-collagen"", ""alpha-2 collagen type I"", ""type I procollagen"", ""collagen I, alpha-2 polypeptide"", ""collagen of skin, tendon and bone, alpha-2 chain"""	120160	"""osteogenesis imperfecta type IV"""	OI4		3857213, 2897363	Standard	NM_000089		Approved		uc003ung.1	P08123	OTTHUMG00000148675	ENST00000297268.6:c.946G>T	7.37:g.94039044G>T	ENSP00000297268:p.Gly316Cys	HNSCC(75;0.22)				COL1A2_uc011kib.1_Intron	p.G316C	NM_000089	NP_000080	P08123	CO1A2_HUMAN	STAD - Stomach adenocarcinoma(171;0.0031)		19	1417	+	all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08)		316					P02464|Q13897|Q13997|Q13998|Q14038|Q14057|Q15177|Q15947|Q16480|Q16511|Q7Z5S6|Q9UEB6|Q9UEF9|Q9UM83|Q9UMI1|Q9UML5|Q9UMM6|Q9UPH0	Missense_Mutation	SNP	ENST00000297268.6	37	c.946G>T	CCDS34682.1	.	.	.	.	.	.	.	.	.	.	G	19.87	3.907200	0.72868	.	.	ENSG00000164692	ENST00000297268;ENST00000545487	D	0.99637	-6.29	5.58	5.58	0.84498	.	0.000000	0.85682	D	0.000000	D	0.99819	0.9920	H	0.97540	4.025	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.97019	0.9742	10	0.87932	D	0	.	19.966	0.97266	0.0:0.0:1.0:0.0	.	316	P08123	CO1A2_HUMAN	C	316;317	ENSP00000297268:G316C	ENSP00000297268:G316C	G	+	1	0	COL1A2	93876980	1.000000	0.71417	0.981000	0.43875	0.731000	0.41821	9.439000	0.97543	2.802000	0.96397	0.655000	0.94253	GGC		PASS	0.567	COL1A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000309045.2	NM_000089		51	68	51	68	---	---	---	---
C7orf43	55262	broad.mit.edu	37	7	99754531	99754531	+	Silent	SNP	C	C	T			TCGA-66-2756-01A-01D-1522-08	TCGA-66-2756-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	472c95e6-eccb-4988-be16-fdace73b2ed8	ff4f5936-f847-42ad-aedf-6a6a7fff6002	g.chr7:99754531C>T	ENST00000316937.3	-	6	1115	c.930G>A	c.(928-930)ctG>ctA	p.L310L	C7orf43_ENST00000394035.2_5'Flank|MIR4658_ENST00000584344.1_RNA|C7orf43_ENST00000419841.1_Silent_p.L78L|C7orf43_ENST00000457641.1_Silent_p.L41L|C7orf43_ENST00000498638.1_5'UTR	NM_018275.3	NP_060745.3	Q8WVR3	CG043_HUMAN	chromosome 7 open reading frame 43	310								p.L310L(1)		breast(1)|endometrium(3)|large_intestine(3)|lung(2)|prostate(1)	10	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					TGTGTTCCTCCAGGGCATTCA	0.592																																						uc003utr.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(928-930)CTG>CTA		hypothetical protein LOC55262							59.0	69.0	66.0					7																	99754531		2203	4300	6503	SO:0001819	synonymous_variant	55262							g.chr7:99754531C>T		CCDS5687.1	7q22.1	2011-11-25			ENSG00000146826	ENSG00000146826			25604	protein-coding gene	gene with protein product						12477932	Standard	NM_018275		Approved	FLJ10925	uc003utr.3	Q8WVR3	OTTHUMG00000154862	ENST00000316937.3:c.930G>A	7.37:g.99754531C>T						C7orf43_uc010lgo.2_5'Flank|C7orf43_uc010lgp.2_5'UTR|C7orf43_uc011kjj.1_Silent_p.L78L|C7orf43_uc003uts.2_Silent_p.L41L	p.L310L	NM_018275	NP_060745	Q8WVR3	CG043_HUMAN			6	1110	-	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)		310					A4D2A9|D6W5U4|Q9BQJ1|Q9BUB6|Q9NV47	Silent	SNP	ENST00000316937.3	37	c.930G>A	CCDS5687.1	.	.	.	.	.	.	.	.	.	.	c	8.154	0.788075	0.16258	.	.	ENSG00000146826	ENST00000456769	.	.	.	5.58	2.84	0.33178	.	.	.	.	.	T	0.57286	0.2043	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.49163	-0.8968	4	.	.	.	-14.7854	8.0644	0.30652	0.0:0.7464:0.0:0.2536	.	.	.	.	R	216	.	.	G	-	1	0	C7orf43	99592467	1.000000	0.71417	1.000000	0.80357	0.933000	0.57130	1.044000	0.30329	0.335000	0.23614	-0.355000	0.07637	GGA		PASS	0.592	C7orf43-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337395.2	NM_018275		29	159	29	159	---	---	---	---
ARMC10	83787	broad.mit.edu	37	7	102738950	102738951	+	Missense_Mutation	DNP	CA	CA	AT			TCGA-66-2756-01A-01D-1522-08	TCGA-66-2756-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	472c95e6-eccb-4988-be16-fdace73b2ed8	ff4f5936-f847-42ad-aedf-6a6a7fff6002	g.chr7:102738950_102738951CA>AT	ENST00000323716.3	+	7	1374_1375	c.982_983CA>AT	c.(982-984)CAt>ATt	p.H328I	ARMC10_ENST00000441711.2_Missense_Mutation_p.H293I|ARMC10_ENST00000425331.1_Missense_Mutation_p.H269I|ARMC10_ENST00000454559.1_Missense_Mutation_p.H234I|ARMC10_ENST00000428183.2_Missense_Mutation_p.H269I|ARMC10_ENST00000541300.1_Missense_Mutation_p.H210I	NM_031905.4	NP_114111.2	Q8N2F6	ARM10_HUMAN	armadillo repeat containing 10	328					regulation of growth (GO:0040008)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)		p.H328I(1)|p.H328N(1)|p.H328L(1)		NS(1)|breast(1)|central_nervous_system(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|urinary_tract(1)	11						AGTTGATCACCATGATGCAGAG	0.376																																						uc003vaw.1																			3	Substitution - Missense(3)		lung(3)	ovary(1)	1						c.(982-984)CAT>AAT|c.(982-984)CAT>CTT		SVH protein isoform a																																				SO:0001583	missense	83787				regulation of growth	endoplasmic reticulum membrane|integral to membrane	binding	g.chr7:102738950C>A|g.chr7:102738951A>T	AY150853	CCDS5728.1, CCDS55145.1, CCDS55146.1, CCDS55147.1, CCDS55148.1, CCDS55149.1	7q22.1	2013-02-14			ENSG00000170632	ENSG00000170632		"""Armadillo repeat containing"""	21706	protein-coding gene	gene with protein product	"""specific Splicing Variant involved in Hepatocarcinogenesis"""	611864				12839973	Standard	NM_031905		Approved	MGC3195, SVH	uc003vaw.2	Q8N2F6	OTTHUMG00000157201	Exception_encountered	7.37:g.102738950_102738951delinsAT	ENSP00000319412:p.His328Ile					ARMC10_uc003vay.1_Missense_Mutation_p.H269N|ARMC10_uc003vax.1_Missense_Mutation_p.H293N|ARMC10_uc003vbb.1_Missense_Mutation_p.H234N|ARMC10_uc011kli.1_Missense_Mutation_p.H269N|ARMC10_uc010lis.1_Missense_Mutation_p.H210N|ARMC10_uc003vba.1_RNA|ARMC10_uc003vaz.1_Missense_Mutation_p.H206N|ARMC10_uc003vay.1_Missense_Mutation_p.H269L|ARMC10_uc003vax.1_Missense_Mutation_p.H293L|ARMC10_uc003vbb.1_Missense_Mutation_p.H234L|ARMC10_uc011kli.1_Missense_Mutation_p.H269L|ARMC10_uc010lis.1_Missense_Mutation_p.H210L|ARMC10_uc003vba.1_RNA|ARMC10_uc003vaz.1_Missense_Mutation_p.H206L	p.H328N|p.H328L	NM_031905	NP_114111	Q8N2F6	ARM10_HUMAN			7	1374|1375	+			328					A8K703|B4DWJ8|F5GX65|Q75K91|Q75MG6|Q75ML8|Q8IZC1|Q8IZC2|Q8IZC3|Q9BTM6	Missense_Mutation	SNP	ENST00000323716.3	37	c.982C>A|c.983A>T	CCDS5728.1																																																																																				PASS	0.376	ARMC10-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000347882.1	NM_031905		59	145|150	59	145	---	---	---	---
LAMB1	3912	broad.mit.edu	37	7	107603475	107603475	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2756-01A-01D-1522-08	TCGA-66-2756-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	472c95e6-eccb-4988-be16-fdace73b2ed8	ff4f5936-f847-42ad-aedf-6a6a7fff6002	g.chr7:107603475C>A	ENST00000222399.6	-	15	1962	c.1732G>T	c.(1732-1734)Gac>Tac	p.D578Y	LAMB1_ENST00000393561.1_Missense_Mutation_p.D602Y|LAMB1_ENST00000393560.1_Missense_Mutation_p.D578Y	NM_002291.2	NP_002282.2	P07942	LAMB1_HUMAN	laminin, beta 1	578	Laminin IV type B. {ECO:0000255|PROSITE- ProRule:PRU00462}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|embryo implantation (GO:0007566)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|negative regulation of cell adhesion (GO:0007162)|neuron projection development (GO:0031175)|neuronal-glial interaction involved in cerebral cortex radial glia guided migration (GO:0021812)|odontogenesis (GO:0042476)|positive regulation of cell migration (GO:0030335)|positive regulation of epithelial cell proliferation (GO:0050679)|substrate adhesion-dependent cell spreading (GO:0034446)	basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|laminin-10 complex (GO:0043259)|laminin-2 complex (GO:0005607)|laminin-8 complex (GO:0043257)|perinuclear region of cytoplasm (GO:0048471)	extracellular matrix structural constituent (GO:0005201)|glycosphingolipid binding (GO:0043208)|structural molecule activity (GO:0005198)	p.D578Y(1)		NS(3)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(37)|ovary(6)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)	82						GGAATCCGGTCCTGGATATAT	0.448																																						uc003vew.2																			1	Substitution - Missense(1)		lung(1)	ovary(4)|skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)	8						c.(1732-1734)GAC>TAC		laminin, beta 1 precursor	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)						98.0	100.0	99.0					7																	107603475		2203	4300	6503	SO:0001583	missense	3912				axon guidance|odontogenesis|positive regulation of cell migration|positive regulation of epithelial cell proliferation|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-2 complex|laminin-8 complex|perinuclear region of cytoplasm	extracellular matrix structural constituent	g.chr7:107603475C>A	M61916	CCDS5750.1	7q22	2013-03-01			ENSG00000091136	ENSG00000091136		"""Laminins"""	6486	protein-coding gene	gene with protein product		150240	"""cutis laxa with marfanoid phenotype"""	CLM		2563160, 2704655, 1864606	Standard	NM_002291		Approved		uc003vew.2	P07942	OTTHUMG00000149966	ENST00000222399.6:c.1732G>T	7.37:g.107603475C>A	ENSP00000222399:p.Asp578Tyr					LAMB1_uc003vev.2_Missense_Mutation_p.D602Y|LAMB1_uc003vex.2_Missense_Mutation_p.D578Y|LAMB1_uc010ljn.1_Missense_Mutation_p.D664Y	p.D578Y	NM_002291	NP_002282	P07942	LAMB1_HUMAN			15	2067	-			578			Laminin IV type B.		Q14D91	Missense_Mutation	SNP	ENST00000222399.6	37	c.1732G>T	CCDS5750.1	.	.	.	.	.	.	.	.	.	.	C	18.62	3.664263	0.67700	.	.	ENSG00000091136	ENST00000393561;ENST00000222399;ENST00000393560	T;T;T	0.39406	1.35;1.35;1.08	4.83	4.83	0.62350	Laminin IV (1);	.	.	.	.	T	0.60209	0.2251	M	0.74258	2.255	0.80722	D	1	P;P;P	0.42337	0.694;0.716;0.776	B;P;P	0.52957	0.346;0.572;0.714	T	0.64993	-0.6276	9	0.62326	D	0.03	.	17.9008	0.88902	0.0:1.0:0.0:0.0	.	578;578;602	E7EPA6;P07942;G3XAI2	.;LAMB1_HUMAN;.	Y	602;578;578	ENSP00000377191:D602Y;ENSP00000222399:D578Y;ENSP00000377190:D578Y	ENSP00000222399:D578Y	D	-	1	0	LAMB1	107390711	1.000000	0.71417	1.000000	0.80357	0.545000	0.35147	7.373000	0.79623	2.238000	0.73509	0.563000	0.77884	GAC		PASS	0.448	LAMB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000314584.1	NM_002291		66	116	66	116	---	---	---	---
PAX4	5078	broad.mit.edu	37	7	127254600	127254600	+	Silent	SNP	G	G	A	rs267601272		TCGA-66-2756-01A-01D-1522-08	TCGA-66-2756-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	472c95e6-eccb-4988-be16-fdace73b2ed8	ff4f5936-f847-42ad-aedf-6a6a7fff6002	g.chr7:127254600G>A	ENST00000341640.2	-	3	553	c.348C>T	c.(346-348)atC>atT	p.I116I	PAX4_ENST00000338516.3_Silent_p.I124I|PAX4_ENST00000463946.1_Silent_p.I114I|PAX4_ENST00000378740.2_Silent_p.I116I	NM_006193.2	NP_006184.2	O43316	PAX4_HUMAN	paired box 4	124	Paired. {ECO:0000255|PROSITE- ProRule:PRU00381}.				cell differentiation (GO:0030154)|circadian rhythm (GO:0007623)|endocrine pancreas development (GO:0031018)|negative regulation of apoptotic process (GO:0043066)|organ morphogenesis (GO:0009887)|positive regulation of cell differentiation (GO:0045597)|response to cAMP (GO:0051591)|response to drug (GO:0042493)|retina development in camera-type eye (GO:0060041)	nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001206)	p.I116I(1)		cervix(1)|kidney(2)|large_intestine(6)|lung(20)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	35						GGACTCGGTTGATGGAGGAGA	0.562																																					Ovarian(113;737 1605 7858 27720 34092)	uc010lld.1																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(346-348)ATC>ATT		paired box 4							98.0	67.0	77.0					7																	127254600		2203	4299	6502	SO:0001819	synonymous_variant	5078				cell differentiation|endocrine pancreas development|organ morphogenesis	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr7:127254600G>A		CCDS5797.1	7q32.1	2011-06-20	2007-07-12		ENSG00000106331	ENSG00000106331		"""Paired boxes"", ""Homeoboxes / PRD class"""	8618	protein-coding gene	gene with protein product		167413	"""paired box gene 4"""				Standard	NM_006193		Approved	MODY9	uc010lld.1	O43316	OTTHUMG00000157562	ENST00000341640.2:c.348C>T	7.37:g.127254600G>A						PAX4_uc003vmf.2_Silent_p.I114I|PAX4_uc003vmg.1_Silent_p.I116I|PAX4_uc003vmh.2_Silent_p.I114I	p.I116I	NM_006193	NP_006184	O43316	PAX4_HUMAN			3	554	-			124			Paired.		O95161|Q6B0H0	Silent	SNP	ENST00000341640.2	37	c.348C>T	CCDS5797.1																																																																																				PASS	0.562	PAX4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000349165.1			11	4	11	4	---	---	---	---
STRIP2	57464	broad.mit.edu	37	7	129094344	129094344	+	Missense_Mutation	SNP	C	C	T	rs569854698		TCGA-66-2756-01A-01D-1522-08	TCGA-66-2756-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	472c95e6-eccb-4988-be16-fdace73b2ed8	ff4f5936-f847-42ad-aedf-6a6a7fff6002	g.chr7:129094344C>T	ENST00000249344.2	+	7	722	c.682C>T	c.(682-684)Cgg>Tgg	p.R228W	STRIP2_ENST00000435494.2_Missense_Mutation_p.R228W	NM_020704.2	NP_065755.1	Q9ULQ0	STRP2_HUMAN	striatin interacting protein 2	228					cell migration (GO:0016477)|cytoskeleton organization (GO:0007010)|regulation of cell shape (GO:0008360)	cytoplasm (GO:0005737)		p.R228W(1)									GAGAACAGCCCGGGAGACCTT	0.532													C|||	1	0.000199681	0.0	0.0	5008	,	,		19808	0.001		0.0	False		,,,				2504	0.0					uc011koy.1																			1	Substitution - Missense(1)		lung(1)		0						c.(682-684)CGG>TGG		hypothetical protein LOC57464 isoform a							91.0	84.0	86.0					7																	129094344		2203	4300	6503	SO:0001583	missense	57464							g.chr7:129094344C>T	AB032996	CCDS34752.1, CCDS47709.1	7q32.3	2012-11-05	2012-11-05	2012-11-05	ENSG00000128578	ENSG00000128578			22209	protein-coding gene	gene with protein product	"""FAR11 factor arrest 11 homolog B (yeast)"""		"""family with sequence similarity 40, member B"""	FAM40B		22782902, 22298706, 18782753	Standard	NM_020704		Approved	KIAA1170, FAR11B	uc011koy.2	Q9ULQ0	OTTHUMG00000157695	ENST00000249344.2:c.682C>T	7.37:g.129094344C>T	ENSP00000249344:p.Arg228Trp					FAM40B_uc003vow.2_Missense_Mutation_p.R228W	p.R228W	NM_020704	NP_065755	Q9ULQ0	FA40B_HUMAN			7	722	+			228					Q8WUZ4	Missense_Mutation	SNP	ENST00000249344.2	37	c.682C>T	CCDS34752.1	.	.	.	.	.	.	.	.	.	.	C	21.1	4.095361	0.76870	.	.	ENSG00000128578	ENST00000249344;ENST00000435494	T;T	0.53206	0.64;0.63	5.71	4.82	0.62117	.	0.056151	0.64402	D	0.000002	T	0.71134	0.3304	M	0.84511	2.7	0.58432	D	0.999999	D;D	0.89917	1.0;0.998	D;D	0.87578	0.998;0.963	T	0.76293	-0.3012	10	0.66056	D	0.02	-13.2924	13.8098	0.63256	0.1544:0.8456:0.0:0.0	.	228;228	Q9ULQ0;Q9ULQ0-2	FA40B_HUMAN;.	W	228	ENSP00000249344:R228W;ENSP00000392393:R228W	ENSP00000249344:R228W	R	+	1	2	FAM40B	128881580	0.973000	0.33851	1.000000	0.80357	0.998000	0.95712	2.364000	0.44187	1.393000	0.46605	0.561000	0.74099	CGG		PASS	0.532	STRIP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349418.1	NM_001134336		26	128	26	128	---	---	---	---
PODXL	5420	broad.mit.edu	37	7	131195746	131195746	+	Missense_Mutation	SNP	G	G	A	rs200572752		TCGA-66-2756-01A-01D-1522-08	TCGA-66-2756-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	472c95e6-eccb-4988-be16-fdace73b2ed8	ff4f5936-f847-42ad-aedf-6a6a7fff6002	g.chr7:131195746G>A	ENST00000378555.3	-	2	794	c.547C>T	c.(547-549)Cct>Tct	p.P183S	PODXL_ENST00000465001.1_5'Flank|PODXL_ENST00000537928.1_Missense_Mutation_p.P183S|PODXL_ENST00000541194.1_Missense_Mutation_p.P185S|PODXL_ENST00000322985.9_Missense_Mutation_p.P183S			O00592	PODXL_HUMAN	podocalyxin-like	183	Thr-rich.				cell adhesion (GO:0007155)|cell migration (GO:0016477)|epithelial tube formation (GO:0072175)|glomerular visceral epithelial cell development (GO:0072015)|leukocyte migration (GO:0050900)|negative regulation of cell adhesion (GO:0007162)|negative regulation of cell-cell adhesion (GO:0022408)|positive regulation of cell migration (GO:0030335)|positive regulation of cell-cell adhesion mediated by integrin (GO:0033634)|regulation of microvillus assembly (GO:0032534)	apical plasma membrane (GO:0016324)|cell body (GO:0044297)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|microvillus membrane (GO:0031528)|plasma membrane (GO:0005886)|ruffle (GO:0001726)|slit diaphragm (GO:0036057)		p.P183S(1)		NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(4)|lung(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	24	Melanoma(18;0.162)					GGACTTGTAGGGTGAGGGGTC	0.522																																						uc003vqw.3																			1	Substitution - Missense(1)		lung(1)	breast(2)|pancreas(1)	3						c.(547-549)CCT>TCT		podocalyxin-like isoform 1 precursor							301.0	258.0	272.0					7																	131195746		2203	4300	6503	SO:0001583	missense	5420				cell adhesion|epithelial tube formation|negative regulation of cell-cell adhesion|positive regulation of cell migration|positive regulation of cell-cell adhesion mediated by integrin|regulation of microvillus assembly	actin cytoskeleton|apical plasma membrane|centrosome|filopodium|integral to plasma membrane|lamellipodium|membrane raft|microvillus membrane|nucleolus|ruffle		g.chr7:131195746G>A		CCDS34755.1, CCDS47714.1	7q32-q33	2008-07-18			ENSG00000128567	ENSG00000128567			9171	protein-coding gene	gene with protein product		602632					Standard	NM_001018111		Approved	PCLP, Gp200, PC	uc003vqx.4	O00592	OTTHUMG00000154918	ENST00000378555.3:c.547C>T	7.37:g.131195746G>A	ENSP00000367817:p.Pro183Ser					PODXL_uc003vqx.3_Missense_Mutation_p.P183S	p.P183S	NM_001018111	NP_001018121	O00592	PODXL_HUMAN			2	805	-	Melanoma(18;0.162)		183			Thr-rich.|Extracellular (Potential).		A6NHX8|Q52LZ7|Q53ER6	Missense_Mutation	SNP	ENST00000378555.3	37	c.547C>T	CCDS34755.1	.	.	.	.	.	.	.	.	.	.	G	12.05	1.820630	0.32145	.	.	ENSG00000128567	ENST00000541194;ENST00000537928;ENST00000544955;ENST00000378555;ENST00000322985	T;T;T;T	0.10860	2.97;2.83;2.98;3.02	3.29	-2.0	0.07433	.	7739.210000	0.00166	N	0.000000	T	0.05823	0.0152	N	0.19112	0.55	0.09310	N	1	P;B	0.35745	0.518;0.259	B;B	0.29524	0.103;0.026	T	0.20338	-1.0278	10	0.22109	T	0.4	-0.0159	3.4496	0.07493	0.4507:0.0:0.3487:0.2007	.	183;183	O00592-2;O00592	.;PODXL_HUMAN	S	185;183;173;183;183	ENSP00000440518:P185S;ENSP00000442655:P183S;ENSP00000367817:P183S;ENSP00000319782:P183S	ENSP00000319782:P183S	P	-	1	0	PODXL	130846286	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-2.322000	0.01118	-0.495000	0.06659	0.561000	0.74099	CCT		PASS	0.522	PODXL-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000337627.2	NM_001018111		65	294	65	294	---	---	---	---
KDM7A	80853	broad.mit.edu	37	7	139826529	139826529	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2756-01A-01D-1522-08	TCGA-66-2756-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	472c95e6-eccb-4988-be16-fdace73b2ed8	ff4f5936-f847-42ad-aedf-6a6a7fff6002	g.chr7:139826529C>T	ENST00000397560.2	-	6	893	c.796G>A	c.(796-798)Gtt>Att	p.V266I	JHDM1D_ENST00000006967.5_Missense_Mutation_p.V266I	NM_030647.1	NP_085150.1	Q6ZMT4	KDM7A_HUMAN		266	JmjC. {ECO:0000255|PROSITE- ProRule:PRU00538}.				histone H3-K27 demethylation (GO:0071557)|histone H3-K36 demethylation (GO:0070544)|histone H3-K9 demethylation (GO:0033169)|histone H4-K20 demethylation (GO:0035574)|midbrain development (GO:0030901)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleolus (GO:0005730)|nucleus (GO:0005634)	histone demethylase activity (H3-K27 specific) (GO:0071558)|histone demethylase activity (H3-K36 specific) (GO:0051864)|histone demethylase activity (H3-K9 specific) (GO:0032454)|histone demethylase activity (H4-K20 specific) (GO:0035575)|iron ion binding (GO:0005506)|methylated histone binding (GO:0035064)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors (GO:0016706)|zinc ion binding (GO:0008270)	p.V266I(1)		central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(1)|stomach(1)	22	Melanoma(164;0.0142)					TATTTCTGAACAAATGGCTTG	0.418																																						uc003vvm.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(796-798)GTT>ATT		jumonji C domain containing histone demethylase							111.0	102.0	105.0					7																	139826529		1833	4100	5933	SO:0001583	missense	80853				midbrain development|transcription, DNA-dependent	nucleolus	histone demethylase activity (H3-K27 specific)|histone demethylase activity (H3-K36 specific)|histone demethylase activity (H3-K9 specific)|histone demethylase activity (H4-K20 specific)|iron ion binding|methylated histone residue binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding	g.chr7:139826529C>T																												ENST00000397560.2:c.796G>A	7.37:g.139826529C>T	ENSP00000380692:p.Val266Ile						p.V266I	NM_030647	NP_085150	Q6ZMT4	KDM7_HUMAN			6	800	-	Melanoma(164;0.0142)		266			JmjC.		A4D1S9|C9JJH9|C9JQU2|Q6MZL8|Q9C0E5	Missense_Mutation	SNP	ENST00000397560.2	37	c.796G>A	CCDS43658.1	.	.	.	.	.	.	.	.	.	.	C	34	5.401583	0.96030	.	.	ENSG00000006459	ENST00000397560;ENST00000006967	T;T	0.72282	-0.64;-0.64	5.9	5.9	0.94986	Transcription factor jumonji/aspartyl beta-hydroxylase (2);	0.000000	0.85682	D	0.000000	D	0.88865	0.6553	M	0.93328	3.405	0.80722	D	1	D	0.54207	0.965	D	0.69142	0.962	D	0.90613	0.4553	10	0.87932	D	0	-15.6706	20.2631	0.98458	0.0:1.0:0.0:0.0	.	266	Q6ZMT4	KDM7_HUMAN	I	266	ENSP00000380692:V266I;ENSP00000006967:V266I	ENSP00000006967:V266I	V	-	1	0	JHDM1D	139472998	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	7.818000	0.86416	2.788000	0.95919	0.655000	0.94253	GTT		PASS	0.418	JHDM1D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348460.1			106	213	106	213	---	---	---	---
TRPV5	56302	broad.mit.edu	37	7	142605694	142605694	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2756-01A-01D-1522-08	TCGA-66-2756-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	472c95e6-eccb-4988-be16-fdace73b2ed8	ff4f5936-f847-42ad-aedf-6a6a7fff6002	g.chr7:142605694C>T	ENST00000265310.1	-	15	2524	c.2176G>A	c.(2176-2178)Gtc>Atc	p.V726I		NM_019841.4	NP_062815.2	Q9NQA5	TRPV5_HUMAN	transient receptor potential cation channel, subfamily V, member 5	726	Involved in Ca(2+)-dependent inactivation. {ECO:0000250}.				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.V726I(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)					AAATGGTAGACCTCCTCTCCA	0.547																																						uc003wby.1																			1	Substitution - Missense(1)		lung(1)	ovary(3)|central_nervous_system(2)|skin(1)	6						c.(2176-2178)GTC>ATC		transient receptor potential cation channel,							113.0	107.0	109.0					7																	142605694		2203	4300	6503	SO:0001583	missense	56302				protein tetramerization	apical plasma membrane|integral to plasma membrane	calcium channel activity	g.chr7:142605694C>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.2176G>A	7.37:g.142605694C>T	ENSP00000265310:p.Val726Ile						p.V726I	NM_019841	NP_062815	Q9NQA5	TRPV5_HUMAN			15	2440	-	Melanoma(164;0.059)		726			Cytoplasmic (Potential).|Involved in Ca(2+)-dependent inactivation (By similarity).		A4D2H7|E9PBZ6|Q8N4C1|Q8NDW5|Q8NDX7|Q8NDX8|Q96PM6	Missense_Mutation	SNP	ENST00000265310.1	37	c.2176G>A	CCDS5875.1	.	.	.	.	.	.	.	.	.	.	C	4.124	0.021269	0.08006	.	.	ENSG00000127412	ENST00000265310;ENST00000439304	T;T	0.79352	-1.26;-1.24	4.99	-0.0868	0.13680	.	1.114910	0.06652	N	0.762961	T	0.55386	0.1917	N	0.12182	0.205	0.80722	D	1	B	0.02656	0.0	B	0.04013	0.001	T	0.51212	-0.8734	10	0.02654	T	1	-21.4957	8.1242	0.30988	0.0:0.588:0.0:0.412	.	726	Q9NQA5	TRPV5_HUMAN	I	726;671	ENSP00000265310:V726I;ENSP00000406361:V671I	ENSP00000265310:V726I	V	-	1	0	TRPV5	142315816	0.712000	0.27916	0.010000	0.14722	0.208000	0.24298	0.971000	0.29396	-0.209000	0.10156	0.655000	0.94253	GTC		PASS	0.547	TRPV5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347660.1	NM_019841		79	138	79	138	---	---	---	---
KEL	3792	broad.mit.edu	37	7	142654955	142654955	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2756-01A-01D-1522-08	TCGA-66-2756-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	472c95e6-eccb-4988-be16-fdace73b2ed8	ff4f5936-f847-42ad-aedf-6a6a7fff6002	g.chr7:142654955G>T	ENST00000355265.2	-	6	1105	c.631C>A	c.(631-633)Cta>Ata	p.L211I	KEL_ENST00000479768.2_5'UTR	NM_000420.2	NP_000411.1	P23276	KELL_HUMAN	Kell blood group, metallo-endopeptidase	211					vasoconstriction (GO:0042310)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)	p.L211I(1)		central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(34)|ovary(3)|prostate(2)|skin(1)	60	Melanoma(164;0.059)					TGAGGTCCTAGGTAGGCTCTG	0.522																																						uc003wcb.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|central_nervous_system(1)	4						c.(631-633)CTA>ATA		Kell blood group, metallo-endopeptidase							143.0	117.0	126.0					7																	142654955		2203	4300	6503	SO:0001583	missense	3792				proteolysis|vasoconstriction	integral to membrane|plasma membrane	metal ion binding|metalloendopeptidase activity|protein binding	g.chr7:142654955G>T	BC003135	CCDS34766.1	7q33	2014-07-19	2006-10-10		ENSG00000197993	ENSG00000197993		"""CD molecules"", ""Blood group antigens"""	6308	protein-coding gene	gene with protein product		613883	"""Kell blood group"", ""Kell blood group, metalloendopeptidase"""			1712490, 7683930	Standard	NM_000420		Approved	ECE3, CD238	uc003wcb.3	P23276	OTTHUMG00000157159	ENST00000355265.2:c.631C>A	7.37:g.142654955G>T	ENSP00000347409:p.Leu211Ile						p.L211I	NM_000420	NP_000411	P23276	KELL_HUMAN			6	841	-	Melanoma(164;0.059)		211			Extracellular (Potential).		B2RBV4|Q96RS8|Q99885	Missense_Mutation	SNP	ENST00000355265.2	37	c.631C>A	CCDS34766.1	.	.	.	.	.	.	.	.	.	.	G	16.67	3.188118	0.57909	.	.	ENSG00000197993	ENST00000355265;ENST00000467543	T;T	0.71698	-0.59;-0.59	5.81	1.67	0.24075	Peptidase M13 (1);	0.163700	0.28983	N	0.013510	T	0.66790	0.2825	M	0.68317	2.08	0.09310	N	1	P	0.48503	0.911	P	0.49752	0.621	T	0.54662	-0.8260	10	0.17832	T	0.49	-13.0114	3.9267	0.09267	0.2767:0.0:0.5572:0.166	.	211	P23276	KELL_HUMAN	I	211;192	ENSP00000347409:L211I;ENSP00000420011:L192I	ENSP00000347409:L211I	L	-	1	2	KEL	142365077	0.859000	0.29813	0.041000	0.18516	0.876000	0.50452	0.549000	0.23329	0.767000	0.33267	0.655000	0.94253	CTA		PASS	0.522	KEL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347671.2	NM_000420		83	77	83	77	---	---	---	---
ERICH1	157697	broad.mit.edu	37	8	623391	623391	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2756-01A-01D-1522-08	TCGA-66-2756-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	472c95e6-eccb-4988-be16-fdace73b2ed8	ff4f5936-f847-42ad-aedf-6a6a7fff6002	g.chr8:623391C>A	ENST00000262109.7	-	4	1038	c.961G>T	c.(961-963)Gac>Tac	p.D321Y	ERICH1_ENST00000522706.1_Missense_Mutation_p.D227Y|ERICH1_ENST00000518277.1_5'Flank	NM_207332.1	NP_997215.1	Q86X53	ERIC1_HUMAN	glutamate-rich 1	321	Glu-rich.							p.D321Y(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(9)|pancreas(1)	20		Colorectal(14;0.158)|Ovarian(12;0.17)|Myeloproliferative disorder(644;0.185)|Hepatocellular(245;0.236)		Epithelial(5;3.29e-14)|BRCA - Breast invasive adenocarcinoma(11;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(5;3.65e-06)|READ - Rectum adenocarcinoma(1;0.0325)		TCTGCACCGTCCTCCTCCCCG	0.517																																						uc003wph.2																			1	Substitution - Missense(1)		lung(1)	large_intestine(2)	2						c.(961-963)GAC>TAC		glutamate-rich 1							147.0	152.0	150.0					8																	623391		2203	4300	6503	SO:0001583	missense	157697							g.chr8:623391C>A		CCDS5955.1	8p23.3	2005-09-01			ENSG00000104714	ENSG00000104714			27234	protein-coding gene	gene with protein product							Standard	NM_207332		Approved		uc003wph.3	Q86X53	OTTHUMG00000129163	ENST00000262109.7:c.961G>T	8.37:g.623391C>A	ENSP00000262109:p.Asp321Tyr					ERICH1_uc011kwh.1_Missense_Mutation_p.D321Y|ERICH1_uc003wpe.1_Missense_Mutation_p.D227Y|ERICH1_uc003wpi.2_Missense_Mutation_p.D133Y	p.D321Y	NM_207332	NP_997215	Q86X53	ERIC1_HUMAN		Epithelial(5;3.29e-14)|BRCA - Breast invasive adenocarcinoma(11;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(5;3.65e-06)|READ - Rectum adenocarcinoma(1;0.0325)	4	1026	-		Colorectal(14;0.158)|Ovarian(12;0.17)|Myeloproliferative disorder(644;0.185)|Hepatocellular(245;0.236)	321			Glu-rich.		A8K2J9|Q9P063	Missense_Mutation	SNP	ENST00000262109.7	37	c.961G>T	CCDS5955.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	10.52|10.52	1.372742|1.372742	0.24857|0.24857	.|.	.|.	ENSG00000104714|ENSG00000104714	ENST00000543819;ENST00000522706;ENST00000262109|ENST00000522893	T;T|.	0.33865|.	1.39;1.41|.	2.53|2.53	0.655|0.655	0.17839|0.17839	.|.	1.704760|.	0.03019|.	N|.	0.150510|.	T|T	0.35480|0.35480	0.0933|0.0933	L|L	0.42245|0.42245	1.32|1.32	0.09310|0.09310	N|N	1|1	D;D;D|.	0.71674|.	0.997;0.962;0.998|.	D;P;D|.	0.68353|.	0.937;0.758;0.957|.	T|T	0.28396|0.28396	-1.0045|-1.0045	10|5	0.54805|.	T|.	0.06|.	-0.0017|-0.0017	6.5619|6.5619	0.22491|0.22491	0.0:0.7251:0.0:0.2749|0.0:0.7251:0.0:0.2749	.|.	321;321;227|.	B4DMI5;Q86X53;E5RHA3|.	.;ERIC1_HUMAN;.|.	Y|S	321;227;321|89	ENSP00000428635:D227Y;ENSP00000262109:D321Y|.	ENSP00000262109:D321Y|.	D|R	-|-	1|3	0|2	ERICH1|ERICH1	613391|613391	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.001000|0.001000	0.01503|0.01503	0.334000|0.334000	0.19787|0.19787	0.157000|0.157000	0.19338|0.19338	-0.136000|-0.136000	0.14681|0.14681	GAC|AGG		PASS	0.517	ERICH1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251228.3	NM_207332		96	52	96	52	---	---	---	---
CSMD1	64478	broad.mit.edu	37	8	3008929	3008929	+	Silent	SNP	G	G	T			TCGA-66-2756-01A-01D-1522-08	TCGA-66-2756-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	472c95e6-eccb-4988-be16-fdace73b2ed8	ff4f5936-f847-42ad-aedf-6a6a7fff6002	g.chr8:3008929G>T	ENST00000520002.1	-	41	6579	c.6024C>A	c.(6022-6024)ccC>ccA	p.P2008P	CSMD1_ENST00000523387.1_5'UTR|CSMD1_ENST00000602723.1_Silent_p.P2008P|CSMD1_ENST00000400186.3_Silent_p.P2008P|CSMD1_ENST00000537824.1_Silent_p.P2007P|CSMD1_ENST00000542608.1_Silent_p.P2007P|CSMD1_ENST00000539096.1_Silent_p.P2007P|CSMD1_ENST00000602557.1_Silent_p.P2008P			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	2008	CUB 12. {ECO:0000255|PROSITE- ProRule:PRU00059}.					integral component of membrane (GO:0016021)		p.P2007P(1)|p.P1736P(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)		CATAGCCGATGGGTAATGAGA	0.443																																						uc011kwk.1																			2	Substitution - coding silent(2)		lung(2)	breast(20)|large_intestine(5)	25						c.(6022-6024)CCC>CCA		CUB and Sushi multiple domains 1 precursor							98.0	100.0	99.0					8																	3008929		2006	4194	6200	SO:0001819	synonymous_variant	64478					integral to membrane		g.chr8:3008929G>T			8p23.2	2012-04-17			ENSG00000183117	ENSG00000183117		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	14026	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 24"""	608397					Standard	NM_033225		Approved	KIAA1890, PPP1R24	uc022aqr.1	Q96PZ7	OTTHUMG00000163605	ENST00000520002.1:c.6024C>A	8.37:g.3008929G>T						CSMD1_uc011kwj.1_Silent_p.P1400P|CSMD1_uc003wqe.2_Silent_p.P1164P|CSMD1_uc010lrg.2_Silent_p.P76P	p.P2008P	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)	40	6414	-		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)	2008			Extracellular (Potential).|CUB 12.		Q0H0J5|Q96QU9|Q96RM4	Silent	SNP	ENST00000520002.1	37	c.6024C>A		.	.	.	.	.	.	.	.	.	.	G	0.021	-1.419148	0.01136	.	.	ENSG00000183117	ENST00000335551	.	.	.	5.03	0.605	0.17553	.	.	.	.	.	T	0.50343	0.1610	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.35748	-0.9776	4	.	.	.	.	4.5606	0.12158	0.4578:0.0:0.3912:0.151	.	.	.	.	N	1488	.	.	H	-	1	0	CSMD1	2996336	0.087000	0.21565	0.190000	0.23270	0.007000	0.05969	0.475000	0.22164	0.157000	0.19338	0.650000	0.86243	CAT		PASS	0.443	CSMD1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000374500.2	NM_033225		22	12	22	12	---	---	---	---
NUGGC	389643	broad.mit.edu	37	8	27918117	27918117	+	Splice_Site	SNP	G	G	C			TCGA-66-2756-01A-01D-1522-08	TCGA-66-2756-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	472c95e6-eccb-4988-be16-fdace73b2ed8	ff4f5936-f847-42ad-aedf-6a6a7fff6002	g.chr8:27918117G>C	ENST00000413272.2	-	8	1065	c.923C>G	c.(922-924)aCc>aGc	p.T308S	NUGGC_ENST00000341513.6_Splice_Site_p.T308S	NM_001010906.1	NP_001010906.1	Q68CJ6	SLIP_HUMAN	nuclear GTPase, germinal center associated	308					cellular response to DNA damage stimulus (GO:0006974)|somatic hypermutation of immunoglobulin genes (GO:0016446)	nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)	p.T308S(2)									CTTGTCAATGGTCTGCAAAAC	0.532											OREG0018675	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc003xgm.3																			2	Substitution - Missense(2)		lung(2)	ovary(1)|central_nervous_system(1)	2						c.(922-924)ACC>AGC		speckled-like pattern in the germinal center							44.0	46.0	45.0					8																	27918117		2061	4210	6271	SO:0001630	splice_region_variant	389643					nucleus	GTP binding|GTPase activity	g.chr8:27918117G>C	AB075870	CCDS47833.1	8p21.1	2012-06-07	2012-06-07	2012-06-07	ENSG00000189233	ENSG00000189233			33550	protein-coding gene	gene with protein product	"""speckled-like pattern in the germinal center"""		"""chromosome 8 open reading frame 80"""	C8orf80		19734146	Standard	NM_001010906		Approved	HMFN0672, SLIP-GC	uc003xgm.4	Q68CJ6	OTTHUMG00000155970	ENST00000413272.2:c.922-1C>G	8.37:g.27918117G>C			OREG0018675	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	99		p.T308S	NM_001010906	NP_001010906	Q68CJ6	SLIP_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0228)|KIRC - Kidney renal clear cell carcinoma(542;0.126)|Kidney(114;0.15)|Colorectal(74;0.181)	8	1066	-		Ovarian(32;0.0218)	308					Q6ZP73	Missense_Mutation	SNP	ENST00000413272.2	37	c.923C>G	CCDS47833.1	.	.	.	.	.	.	.	.	.	.	G	11.29	1.595192	0.28445	.	.	ENSG00000189233	ENST00000413272;ENST00000341513	D;D	0.96856	-4.15;-4.15	5.71	5.71	0.89125	Dynamin, GTPase domain (1);	0.216151	0.40554	N	0.001075	D	0.92731	0.7689	L	0.41027	1.25	0.36660	D	0.877893	P	0.34934	0.476	B	0.29267	0.1	D	0.92967	0.6394	10	0.25751	T	0.34	-21.5925	15.3458	0.74337	0.0:0.0:1.0:0.0	.	308	Q68CJ6	SLIP_HUMAN	S	308	ENSP00000408697:T308S;ENSP00000345031:T308S	ENSP00000345031:T308S	T	-	2	0	C8orf80	27974036	1.000000	0.71417	1.000000	0.80357	0.768000	0.43524	1.356000	0.34079	2.686000	0.91538	0.585000	0.79938	ACC		PASS	0.532	NUGGC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000342494.1	NM_001010906	Missense_Mutation	18	10	18	10	---	---	---	---
DKK4	27121	broad.mit.edu	37	8	42233278	42233278	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2756-01A-01D-1522-08	TCGA-66-2756-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	472c95e6-eccb-4988-be16-fdace73b2ed8	ff4f5936-f847-42ad-aedf-6a6a7fff6002	g.chr8:42233278G>T	ENST00000220812.2	-	2	368	c.182C>A	c.(181-183)cCg>cAg	p.P61Q		NM_014420.2	NP_055235.1	Q9UBT3	DKK4_HUMAN	dickkopf WNT signaling pathway inhibitor 4	61	DKK-type Cys-1.				multicellular organismal development (GO:0007275)|negative regulation of Wnt signaling pathway (GO:0030178)|Wnt signaling pathway (GO:0016055)	extracellular region (GO:0005576)		p.P61Q(1)		NS(1)|endometrium(1)|large_intestine(7)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	14	all_cancers(6;1.42e-24)|all_epithelial(6;1.02e-25)|all_lung(13;2.58e-12)|Lung NSC(13;4.24e-11)|Ovarian(28;0.00769)|Prostate(17;0.0119)|Colorectal(14;0.1)|Lung SC(25;0.211)	all_lung(54;0.000434)|Lung NSC(58;0.00161)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954)	BRCA - Breast invasive adenocarcinoma(8;3.48e-10)|OV - Ovarian serous cystadenocarcinoma(14;0.00523)|Lung(22;0.00597)|LUSC - Lung squamous cell carcinoma(45;0.024)			AGCACAGAACGGCTTCTCATC	0.572																																						uc003xpb.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(181-183)CCG>CAG		dickkopf homolog 4 precursor							107.0	86.0	93.0					8																	42233278		2203	4300	6503	SO:0001583	missense	27121				multicellular organismal development|negative regulation of Wnt receptor signaling pathway|Wnt receptor signaling pathway	extracellular region		g.chr8:42233278G>T	AF177397	CCDS6130.1	8p11.2-p11.1	2013-05-15	2013-05-15		ENSG00000104371	ENSG00000104371			2894	protein-coding gene	gene with protein product		605417	"""dickkopf (Xenopus laevis) homolog 4"", ""dickkopf homolog 4 (Xenopus laevis)"""			10570958, 11701963	Standard	NM_014420		Approved		uc003xpb.3	Q9UBT3	OTTHUMG00000164167	ENST00000220812.2:c.182C>A	8.37:g.42233278G>T	ENSP00000220812:p.Pro61Gln						p.P61Q	NM_014420	NP_055235	Q9UBT3	DKK4_HUMAN	BRCA - Breast invasive adenocarcinoma(8;3.48e-10)|OV - Ovarian serous cystadenocarcinoma(14;0.00523)|Lung(22;0.00597)|LUSC - Lung squamous cell carcinoma(45;0.024)		2	293	-	all_cancers(6;1.42e-24)|all_epithelial(6;1.02e-25)|all_lung(13;2.58e-12)|Lung NSC(13;4.24e-11)|Ovarian(28;0.00769)|Prostate(17;0.0119)|Colorectal(14;0.1)|Lung SC(25;0.211)	all_lung(54;0.000434)|Lung NSC(58;0.00161)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954)	61			DKK-type Cys-1.		Q3KNX0|Q9Y4C3	Missense_Mutation	SNP	ENST00000220812.2	37	c.182C>A	CCDS6130.1	.	.	.	.	.	.	.	.	.	.	G	12.57	1.978928	0.34942	.	.	ENSG00000104371	ENST00000543914;ENST00000220812	T	0.27720	1.65	5.2	4.3	0.51218	Dickkopf, N-terminal cysteine-rich (1);	0.226724	0.31495	N	0.007558	T	0.31888	0.0811	L	0.31207	0.915	0.22880	N	0.998612	P	0.50272	0.933	P	0.51453	0.67	T	0.10428	-1.0630	10	0.28530	T	0.3	-2.1597	13.632	0.62200	0.0:0.1569:0.843:0.0	.	61	Q9UBT3	DKK4_HUMAN	Q	61	ENSP00000220812:P61Q	ENSP00000220812:P61Q	P	-	2	0	DKK4	42352435	0.830000	0.29337	0.560000	0.28344	0.008000	0.06430	5.012000	0.64017	1.267000	0.44247	0.491000	0.48974	CCG		PASS	0.572	DKK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377563.1			67	53	67	53	---	---	---	---
PXDNL	137902	broad.mit.edu	37	8	52321974	52321974	+	Missense_Mutation	SNP	A	A	T			TCGA-66-2756-01A-01D-1522-08	TCGA-66-2756-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	472c95e6-eccb-4988-be16-fdace73b2ed8	ff4f5936-f847-42ad-aedf-6a6a7fff6002	g.chr8:52321974A>T	ENST00000356297.4	-	17	2310	c.2210T>A	c.(2209-2211)cTg>cAg	p.L737Q	PXDNL_ENST00000543296.1_Missense_Mutation_p.L737Q	NM_144651.4	NP_653252	A1KZ92	PXDNL_HUMAN	peroxidasin homolog (Drosophila)-like	737					hydrogen peroxide catabolic process (GO:0042744)|oxidation-reduction process (GO:0055114)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)	endonuclease activity (GO:0004519)|heme binding (GO:0020037)|metal ion binding (GO:0046872)|peroxidase activity (GO:0004601)	p.L737Q(1)		NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	48		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)				GGGCTGCTGCAGGTTGTTGCA	0.687																																						uc003xqu.3																			1	Substitution - Missense(1)		lung(1)	ovary(1)|pancreas(1)	2						c.(2209-2211)CTG>CAG		peroxidasin homolog-like precursor							19.0	21.0	20.0					8																	52321974		2026	4170	6196	SO:0001583	missense	137902				hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity	g.chr8:52321974A>T		CCDS47855.1	8q11.21-q11.22	2013-02-18	2007-01-12		ENSG00000147485	ENSG00000147485		"""Immunoglobulin superfamily / I-set domain containing"""	26359	protein-coding gene	gene with protein product	"""polysomal ribonuclease 1 homolog (Xenopus)"""	615904	"""peroxidasin homolog-like (Drosophila)"""			22543864	Standard	NM_144651		Approved	FLJ25471, PMR1	uc003xqu.4	A1KZ92	OTTHUMG00000164244	ENST00000356297.4:c.2210T>A	8.37:g.52321974A>T	ENSP00000348645:p.Leu737Gln					PXDNL_uc003xqt.3_RNA	p.L737Q	NM_144651	NP_653252	A1KZ92	PXDNL_HUMAN			17	2311	-		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)	737					B5ME43|B6CGZ3|H0YBM9|Q6ZMR2|Q96LH9	Missense_Mutation	SNP	ENST00000356297.4	37	c.2210T>A	CCDS47855.1	.	.	.	.	.	.	.	.	.	.	A	19.49	3.836743	0.71373	.	.	ENSG00000147485	ENST00000356297;ENST00000543296	T;T	0.72615	-0.67;-0.67	3.71	3.71	0.42584	.	.	.	.	.	T	0.81950	0.4931	M	0.87456	2.885	0.33812	D	0.62797	P	0.51240	0.943	P	0.57548	0.823	D	0.87855	0.2660	9	0.66056	D	0.02	.	10.6049	0.45388	1.0:0.0:0.0:0.0	.	737	A1KZ92	PXDNL_HUMAN	Q	737	ENSP00000348645:L737Q;ENSP00000444865:L737Q	ENSP00000348645:L737Q	L	-	2	0	PXDNL	52484527	1.000000	0.71417	0.352000	0.25734	0.783000	0.44284	6.195000	0.72088	1.451000	0.47736	0.454000	0.30748	CTG		PASS	0.687	PXDNL-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377905.1	NM_144651		6	57	6	57	---	---	---	---
TRIM55	84675	broad.mit.edu	37	8	67040550	67040550	+	Silent	SNP	G	G	A			TCGA-66-2756-01A-01D-1522-08	TCGA-66-2756-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	472c95e6-eccb-4988-be16-fdace73b2ed8	ff4f5936-f847-42ad-aedf-6a6a7fff6002	g.chr8:67040550G>A	ENST00000315962.4	+	2	553	c.180G>A	c.(178-180)ccG>ccA	p.P60P	TRIM55_ENST00000276573.7_Silent_p.P60P|TRIM55_ENST00000353317.5_Silent_p.P60P|TRIM55_ENST00000350034.4_Silent_p.P60P	NM_184085.1	NP_908973.1	Q9BYV6	TRI55_HUMAN	tripartite motif containing 55	60					signal transduction (GO:0007165)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)	identical protein binding (GO:0042802)|signal transducer activity (GO:0004871)|zinc ion binding (GO:0008270)	p.P60P(1)		breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(13)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(2)	39		Lung NSC(129;0.138)|all_lung(136;0.221)	Epithelial(68;0.0136)|all cancers(69;0.0582)|BRCA - Breast invasive adenocarcinoma(89;0.0628)|OV - Ovarian serous cystadenocarcinoma(28;0.0904)			CCTCTAACCCGTATTTGCCCA	0.473																																						uc003xvv.2																			1	Substitution - coding silent(1)		lung(1)	skin(3)|ovary(1)|central_nervous_system(1)	5						c.(178-180)CCG>CCA		tripartite motif-containing 55 isoform 1							106.0	106.0	106.0					8																	67040550		2203	4300	6503	SO:0001819	synonymous_variant	84675					cytoplasm|microtubule|nucleus	signal transducer activity|zinc ion binding	g.chr8:67040550G>A	AJ291712	CCDS6184.1, CCDS6185.1, CCDS6186.1, CCDS6187.1	8q13.1	2013-01-09	2011-01-25	2004-11-17	ENSG00000147573	ENSG00000147573		"""RING-type (C3HC4) zinc fingers"", ""Tripartite motif containing / Tripartite motif containing"""	14215	protein-coding gene	gene with protein product		606469	"""ring finger protein 29"", ""tripartite motif-containing 55"""	RNF29		11243782	Standard	NM_033058		Approved	MURF-2	uc003xvv.3	Q9BYV6	OTTHUMG00000164473	ENST00000315962.4:c.180G>A	8.37:g.67040550G>A						TRIM55_uc003xvu.2_Silent_p.P60P|TRIM55_uc003xvw.2_Silent_p.P60P|TRIM55_uc003xvx.2_Silent_p.P60P	p.P60P	NM_184085	NP_908973	Q9BYV6	TRI55_HUMAN	Epithelial(68;0.0136)|all cancers(69;0.0582)|BRCA - Breast invasive adenocarcinoma(89;0.0628)|OV - Ovarian serous cystadenocarcinoma(28;0.0904)		2	406	+		Lung NSC(129;0.138)|all_lung(136;0.221)	60			RING-type.		B3KRC0|B3KRJ3|Q53XX3|Q8IUD9|Q8IUE4|Q96DV2|Q96DV3|Q9BYV5	Silent	SNP	ENST00000315962.4	37	c.180G>A	CCDS6184.1																																																																																				PASS	0.473	TRIM55-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378921.1	NM_184085		79	367	79	367	---	---	---	---
MCMDC2	157777	broad.mit.edu	37	8	67791064	67791064	+	Missense_Mutation	SNP	G	G	C			TCGA-66-2756-01A-01D-1522-08	TCGA-66-2756-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	472c95e6-eccb-4988-be16-fdace73b2ed8	ff4f5936-f847-42ad-aedf-6a6a7fff6002	g.chr8:67791064G>C	ENST00000422365.2	+	7	790	c.619G>C	c.(619-621)Gaa>Caa	p.E207Q	MCMDC2_ENST00000541540.1_Missense_Mutation_p.E144Q|MCMDC2_ENST00000492775.1_Missense_Mutation_p.E207Q|MCMDC2_ENST00000396592.3_Missense_Mutation_p.E207Q|MCMDC2_ENST00000313616.5_Missense_Mutation_p.E207Q	NM_173518.4	NP_775789.3	Q4G0Z9	MCMD2_HUMAN	minichromosome maintenance domain containing 2	207					DNA replication (GO:0006260)		ATP binding (GO:0005524)|DNA binding (GO:0003677)	p.E207Q(2)|p.E202Q(1)		endometrium(2)|kidney(2)|lung(5)	9						ACAAATAGTTGAAATAATTGC	0.269																																						uc003xwz.3																			3	Substitution - Missense(3)		lung(3)	ovary(1)	1						c.(619-621)GAA>CAA		minichromosome maintenance complex							33.0	35.0	34.0					8																	67791064		2201	4296	6497	SO:0001583	missense	157777				DNA replication		ATP binding|DNA binding	g.chr8:67791064G>C	BC034576	CCDS6197.2, CCDS47868.1, CCDS47869.1	8q13.1	2012-04-13	2012-04-13	2012-04-13	ENSG00000178460	ENSG00000178460			26368	protein-coding gene	gene with protein product			"""chromosome 8 open reading frame 45"""	C8orf45			Standard	NM_173518		Approved	FLJ25692	uc003xwz.4	Q4G0Z9	OTTHUMG00000157068	ENST00000422365.2:c.619G>C	8.37:g.67791064G>C	ENSP00000413632:p.Glu207Gln					C8orf45_uc003xwv.2_Missense_Mutation_p.E207Q|C8orf45_uc011lev.1_Missense_Mutation_p.E207Q|C8orf45_uc011lew.1_Missense_Mutation_p.E138Q|C8orf45_uc011lex.1_5'UTR|C8orf45_uc003xwy.3_Missense_Mutation_p.E207Q	p.E207Q	NM_173518	NP_775789	Q4G0Z9	CH045_HUMAN	Epithelial(68;0.00384)|OV - Ovarian serous cystadenocarcinoma(28;0.00913)|all cancers(69;0.0175)|BRCA - Breast invasive adenocarcinoma(89;0.206)		7	790	+	Breast(64;0.186)		207					B4DYZ3|B4DZM4|B4E293|Q6P533|Q7Z3P4	Missense_Mutation	SNP	ENST00000422365.2	37	c.619G>C	CCDS6197.2	.	.	.	.	.	.	.	.	.	.	G	25.7	4.662473	0.88251	.	.	ENSG00000178460	ENST00000379356;ENST00000396592;ENST00000422365;ENST00000492775;ENST00000313616;ENST00000541540	T;T;T;T;T	0.26957	3.65;3.65;3.65;3.65;1.7	5.66	5.66	0.87406	.	0.048673	0.85682	D	0.000000	T	0.50633	0.1627	M	0.61703	1.905	0.58432	D	0.999996	D;D;D;D	0.89917	1.0;0.999;0.998;0.999	D;D;P;D	0.71656	0.974;0.941;0.896;0.952	T	0.45160	-0.9280	10	0.56958	D	0.05	-19.6992	19.7375	0.96212	0.0:0.0:1.0:0.0	.	144;207;207;207	Q4G0Z9-4;Q4G0Z9;B4DXX4;G3XAN3	.;CH045_HUMAN;.;.	Q	79;207;207;207;207;144	ENSP00000379837:E207Q;ENSP00000413632:E207Q;ENSP00000428037:E207Q;ENSP00000317234:E207Q;ENSP00000445629:E144Q	ENSP00000317234:E207Q	E	+	1	0	C8orf45	67953618	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	8.218000	0.89768	2.649000	0.89929	0.591000	0.81541	GAA		PASS	0.269	MCMDC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347350.1	NM_173518		10	186	10	186	---	---	---	---
XKR9	389668	broad.mit.edu	37	8	71646107	71646107	+	Missense_Mutation	SNP	G	G	C			TCGA-66-2756-01A-01D-1522-08	TCGA-66-2756-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	472c95e6-eccb-4988-be16-fdace73b2ed8	ff4f5936-f847-42ad-aedf-6a6a7fff6002	g.chr8:71646107G>C	ENST00000408926.3	+	5	1104	c.570G>C	c.(568-570)ttG>ttC	p.L190F	XKR9_ENST00000520030.1_Missense_Mutation_p.L190F|XKR9_ENST00000520273.1_Intron	NM_001011720.1	NP_001011720.1	Q5GH70	XKR9_HUMAN	XK, Kell blood group complex subunit-related family, member 9	190						integral component of membrane (GO:0016021)		p.L190F(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(2)|lung(4)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	19	Breast(64;0.0716)		Epithelial(68;0.00301)|all cancers(69;0.0165)|OV - Ovarian serous cystadenocarcinoma(28;0.0524)|BRCA - Breast invasive adenocarcinoma(89;0.166)			GAAAATCCTTGCCTGACAAAA	0.338																																						uc003xyq.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(568-570)TTG>TTC		XK, Kell blood group complex subunit-related							98.0	93.0	94.0					8																	71646107		2203	4299	6502	SO:0001583	missense	389668					integral to membrane		g.chr8:71646107G>C	AY534247	CCDS34905.1	8q13.3	2006-01-12	2006-01-12			ENSG00000221947			20937	protein-coding gene	gene with protein product			"""X Kell blood group precursor-related family, member 9"""				Standard	NM_001287258		Approved		uc003xyq.3	Q5GH70		ENST00000408926.3:c.570G>C	8.37:g.71646107G>C	ENSP00000386141:p.Leu190Phe					XKR9_uc010lze.2_Missense_Mutation_p.L190F|XKR9_uc010lzd.2_Missense_Mutation_p.L58F	p.L190F	NM_001011720	NP_001011720	Q5GH70	XKR9_HUMAN	Epithelial(68;0.00301)|all cancers(69;0.0165)|OV - Ovarian serous cystadenocarcinoma(28;0.0524)|BRCA - Breast invasive adenocarcinoma(89;0.166)		5	1104	+	Breast(64;0.0716)		190					B2RNS9|B9EH74	Missense_Mutation	SNP	ENST00000408926.3	37	c.570G>C	CCDS34905.1	.	.	.	.	.	.	.	.	.	.	G	11.59	1.683055	0.29872	.	.	ENSG00000221947	ENST00000408926;ENST00000520030	T;T	0.65732	-0.17;-0.17	4.69	-1.36	0.09085	.	0.000000	0.64402	D	0.000002	T	0.71617	0.3361	M	0.82056	2.57	0.51482	D	0.999926	D	0.89917	1.0	D	0.97110	1.0	T	0.68481	-0.5397	10	0.16896	T	0.51	-11.6926	7.7909	0.29119	0.3889:0.0:0.5101:0.101	.	190	Q5GH70	XKR9_HUMAN	F	190	ENSP00000386141:L190F;ENSP00000431088:L190F	ENSP00000386141:L190F	L	+	3	2	XKR9	71808661	0.978000	0.34361	0.980000	0.43619	0.189000	0.23516	0.034000	0.13776	-0.412000	0.07519	-1.119000	0.02030	TTG		PASS	0.338	XKR9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378752.1	NM_001011720		30	177	30	177	---	---	---	---
EYA1	2138	broad.mit.edu	37	8	72128977	72128977	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2756-01A-01D-1522-08	TCGA-66-2756-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	472c95e6-eccb-4988-be16-fdace73b2ed8	ff4f5936-f847-42ad-aedf-6a6a7fff6002	g.chr8:72128977C>G	ENST00000340726.3	-	14	1949	c.1310G>C	c.(1309-1311)cGc>cCc	p.R437P	EYA1_ENST00000303824.7_Missense_Mutation_p.R431P|EYA1_ENST00000388742.4_Missense_Mutation_p.R437P|EYA1_ENST00000388740.3_Missense_Mutation_p.R404P|EYA1_ENST00000388741.2_Missense_Mutation_p.R403P|EYA1_ENST00000419131.1_Missense_Mutation_p.R402P|EYA1_ENST00000388743.2_Missense_Mutation_p.R436P	NM_000503.4	NP_000494.2	Q99502	EYA1_HUMAN	EYA transcriptional coactivator and phosphatase 1	437					anatomical structure morphogenesis (GO:0009653)|aorta morphogenesis (GO:0035909)|branching involved in ureteric bud morphogenesis (GO:0001658)|cellular protein localization (GO:0034613)|cochlea morphogenesis (GO:0090103)|double-strand break repair (GO:0006302)|embryonic skeletal system morphogenesis (GO:0048704)|establishment of mitotic spindle orientation (GO:0000132)|establishment or maintenance of apical/basal cell polarity (GO:0035088)|histone dephosphorylation (GO:0016576)|lung epithelial cell differentiation (GO:0060487)|metanephros development (GO:0001656)|middle ear morphogenesis (GO:0042474)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|neuron fate specification (GO:0048665)|otic vesicle morphogenesis (GO:0071600)|outer ear morphogenesis (GO:0042473)|outflow tract morphogenesis (GO:0003151)|pattern specification process (GO:0007389)|pharyngeal system development (GO:0060037)|positive regulation of DNA repair (GO:0045739)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of secondary heart field cardioblast proliferation (GO:0072513)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein sumoylation (GO:0016925)|regulation of neuron differentiation (GO:0045664)|response to ionizing radiation (GO:0010212)|semicircular canal morphogenesis (GO:0048752)|sensory perception of sound (GO:0007605)|striated muscle tissue development (GO:0014706)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|protein tyrosine phosphatase activity (GO:0004725)|RNA binding (GO:0003723)	p.R437P(1)		NS(2)|breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(15)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	44	Breast(64;0.046)		Epithelial(68;0.0837)|all cancers(69;0.247)			CCGTCTGTAGCGGAAGGCCAA	0.468																																						uc003xys.3																			1	Substitution - Missense(1)		lung(1)	ovary(2)|central_nervous_system(2)|upper_aerodigestive_tract(1)	5						c.(1309-1311)CGC>CCC		eyes absent 1 isoform b							194.0	169.0	177.0					8																	72128977		2203	4300	6503	SO:0001583	missense	2138				double-strand break repair|histone dephosphorylation|positive regulation of DNA repair|protein sumoylation|regulation of transcription, DNA-dependent|response to ionizing radiation|sensory perception of sound|transcription, DNA-dependent	cytoplasm|nucleus	metal ion binding|protein tyrosine phosphatase activity	g.chr8:72128977C>G	AJ000098	CCDS34906.1, CCDS34907.1, CCDS47873.1, CCDS75750.1	8q13.3	2014-06-19	2014-06-19		ENSG00000104313	ENSG00000104313		"""Protein tyrosine phosphatases / Asp-based PTPs"""	3519	protein-coding gene	gene with protein product		601653	"""eyes absent (Drosophila) homolog 1"", ""eyes absent homolog 1 (Drosophila)"""	BOR		9020840	Standard	XM_005251184		Approved		uc003xys.4	Q99502	OTTHUMG00000149894	ENST00000340726.3:c.1310G>C	8.37:g.72128977C>G	ENSP00000342626:p.Arg437Pro					EYA1_uc003xyr.3_Missense_Mutation_p.R402P|EYA1_uc003xyt.3_Missense_Mutation_p.R404P|EYA1_uc010lzf.2_Missense_Mutation_p.R364P|EYA1_uc003xyu.2_Missense_Mutation_p.R437P|EYA1_uc011lfe.1_Missense_Mutation_p.R431P|EYA1_uc003xyv.2_Missense_Mutation_p.R315P	p.R437P	NM_172058	NP_742055	Q99502	EYA1_HUMAN	Epithelial(68;0.0837)|all cancers(69;0.247)		13	1597	-	Breast(64;0.046)		437					A6NHQ0|G5E9R4|Q0P516|Q8WX80	Missense_Mutation	SNP	ENST00000340726.3	37	c.1310G>C	CCDS34906.1	.	.	.	.	.	.	.	.	.	.	C	26.1	4.705684	0.89018	.	.	ENSG00000104313	ENST00000388742;ENST00000340726;ENST00000388744;ENST00000388740;ENST00000303824;ENST00000388741;ENST00000388743;ENST00000419131	D;D;D;D;D;D;D	0.82893	-1.66;-1.66;-1.66;-1.66;-1.66;-1.66;-1.66	5.44	5.44	0.79542	EYA (1);Haloacid dehalogenase-like hydrolase (1);	0.095443	0.85682	D	0.000000	D	0.89880	0.6843	M	0.85197	2.74	0.80722	D	1	B;B;B;B;P	0.39250	0.159;0.186;0.43;0.159;0.665	B;P;P;B;B	0.48840	0.144;0.495;0.592;0.144;0.33	D	0.90663	0.4592	10	0.87932	D	0	-10.51	19.4568	0.94895	0.0:1.0:0.0:0.0	.	431;364;404;437;402	A6NCB9;Q0P517;Q99502-2;Q99502;G5E9R4	.;.;.;EYA1_HUMAN;.	P	437;437;405;404;431;403;436;402	ENSP00000373394:R437P;ENSP00000342626:R437P;ENSP00000373392:R404P;ENSP00000303221:R431P;ENSP00000373393:R403P;ENSP00000373395:R436P;ENSP00000410176:R402P	ENSP00000303221:R431P	R	-	2	0	EYA1	72291531	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.604000	0.82830	2.832000	0.97577	0.655000	0.94253	CGC		PASS	0.468	EYA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000313788.2	NM_000503, NM_172060		85	371	85	371	---	---	---	---
ZFHX4	79776	broad.mit.edu	37	8	77617652	77617652	+	Silent	SNP	C	C	T			TCGA-66-2756-01A-01D-1522-08	TCGA-66-2756-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	472c95e6-eccb-4988-be16-fdace73b2ed8	ff4f5936-f847-42ad-aedf-6a6a7fff6002	g.chr8:77617652C>T	ENST00000521891.2	+	2	1777	c.1329C>T	c.(1327-1329)aaC>aaT	p.N443N	ZFHX4_ENST00000050961.6_Silent_p.N443N|ZFHX4_ENST00000455469.2_Silent_p.N443N|ZFHX4_ENST00000518282.1_Silent_p.N443N|ZFHX4_ENST00000517683.1_Intron	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	443					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|zinc ion binding (GO:0008270)	p.N443N(1)		NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			ACCAAGAGAACAACTGTGAAA	0.483										HNSCC(33;0.089)																												uc003yav.2																			1	Substitution - coding silent(1)		lung(1)	ovary(8)|large_intestine(4)|breast(2)|lung(1)	15						c.(1327-1329)AAC>AAT		zinc finger homeodomain 4							61.0	59.0	60.0					8																	77617652		1992	4174	6166	SO:0001819	synonymous_variant	79776					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr8:77617652C>T		CCDS47878.1, CCDS47878.2	8q21.11	2012-07-02	2007-07-16		ENSG00000091656	ENSG00000091656		"""Homeoboxes / ZF class"""	30939	protein-coding gene	gene with protein product		606940	"""zinc finger homeodomain 4"""			10873665, 11935336	Standard	NM_024721		Approved	ZFH4, FLJ20980	uc003yau.2	Q86UP3	OTTHUMG00000164557	ENST00000521891.2:c.1329C>T	8.37:g.77617652C>T		HNSCC(33;0.089)				ZFHX4_uc003yat.1_Silent_p.N443N|ZFHX4_uc003yau.1_Silent_p.N443N|ZFHX4_uc003yaw.1_Silent_p.N443N	p.N443N	NM_024721	NP_078997	Q86UP3	ZFHX4_HUMAN	BRCA - Breast invasive adenocarcinoma(89;0.0895)		2	1716	+			443					G3V138|Q18PS0|Q6ZN20	Silent	SNP	ENST00000521891.2	37	c.1329C>T	CCDS47878.2																																																																																				PASS	0.483	ZFHX4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000379197.2	NM_024721		10	65	10	65	---	---	---	---
CDH17	1015	broad.mit.edu	37	8	95178149	95178149	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2756-01A-01D-1522-08	TCGA-66-2756-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	472c95e6-eccb-4988-be16-fdace73b2ed8	ff4f5936-f847-42ad-aedf-6a6a7fff6002	g.chr8:95178149G>T	ENST00000027335.3	-	10	1246	c.1122C>A	c.(1120-1122)aaC>aaA	p.N374K	CDH17_ENST00000450165.2_Missense_Mutation_p.N374K|CDH17_ENST00000441892.2_Missense_Mutation_p.N160K	NM_004063.3	NP_004054.3	Q12864	CAD17_HUMAN	cadherin 17, LI cadherin (liver-intestine)	374	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|oligopeptide transmembrane transport (GO:0035672)|oligopeptide transport (GO:0006857)|transport (GO:0006810)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|proton-dependent oligopeptide secondary active transmembrane transporter activity (GO:0005427)|transporter activity (GO:0005215)	p.N374K(1)		NS(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(18)|ovary(6)|prostate(3)|skin(4)|stomach(2)	52	Breast(36;4.65e-06)		BRCA - Breast invasive adenocarcinoma(8;0.00691)			TTAGAAAACTGTTGGCAGTAT	0.438																																						uc003ygh.2																			1	Substitution - Missense(1)		lung(1)	ovary(5)|skin(1)	6						c.(1120-1122)AAC>AAA		cadherin 17 precursor							100.0	100.0	100.0					8																	95178149		2203	4300	6503	SO:0001583	missense	1015					integral to membrane	calcium ion binding	g.chr8:95178149G>T	X83228	CCDS6260.1	8q22.1	2010-01-26			ENSG00000079112	ENSG00000079112		"""Cadherins / Major cadherins"""	1756	protein-coding gene	gene with protein product		603017				9615235, 10191097	Standard	NM_004063		Approved	HPT-1, cadherin	uc003ygh.2	Q12864	OTTHUMG00000164391	ENST00000027335.3:c.1122C>A	8.37:g.95178149G>T	ENSP00000027335:p.Asn374Lys					CDH17_uc011lgo.1_Missense_Mutation_p.N160K|CDH17_uc011lgp.1_Missense_Mutation_p.N374K	p.N374K	NM_004063	NP_004054	Q12864	CAD17_HUMAN	BRCA - Breast invasive adenocarcinoma(8;0.00691)		10	1247	-	Breast(36;4.65e-06)		374			Extracellular (Potential).|Cadherin 4.		Q15336|Q2M2E0	Missense_Mutation	SNP	ENST00000027335.3	37	c.1122C>A	CCDS6260.1	.	.	.	.	.	.	.	.	.	.	G	15.25	2.779211	0.49891	.	.	ENSG00000079112	ENST00000027335;ENST00000441892;ENST00000450165	T;T;T	0.59906	0.23;0.23;0.23	5.89	0.429	0.16506	Cadherin (4);Cadherin-like (1);	0.237165	0.29376	N	0.012326	T	0.77212	0.4097	M	0.93638	3.44	0.22571	N	0.998975	D;D	0.89917	1.0;0.998	D;P	0.79108	0.992;0.886	T	0.66787	-0.5835	10	0.87932	D	0	-8.7077	7.8302	0.29338	0.5964:0.0:0.4036:0.0	.	160;374	E7EN24;Q12864	.;CAD17_HUMAN	K	374;160;374	ENSP00000027335:N374K;ENSP00000392811:N160K;ENSP00000401468:N374K	ENSP00000027335:N374K	N	-	3	2	CDH17	95247325	0.871000	0.30034	0.024000	0.17045	0.001000	0.01503	0.107000	0.15375	0.125000	0.18397	-1.036000	0.02392	AAC		PASS	0.438	CDH17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378560.1	NM_004063		21	169	21	169	---	---	---	---
KCNS2	3788	broad.mit.edu	37	8	99440455	99440455	+	Missense_Mutation	SNP	A	A	G			TCGA-66-2756-01A-01D-1522-08	TCGA-66-2756-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	472c95e6-eccb-4988-be16-fdace73b2ed8	ff4f5936-f847-42ad-aedf-6a6a7fff6002	g.chr8:99440455A>G	ENST00000287042.4	+	2	598	c.248A>G	c.(247-249)cAt>cGt	p.H83R	KCNS2_ENST00000521839.1_Missense_Mutation_p.H83R	NM_020697.2	NP_065748.1	Q9ULS6	KCNS2_HUMAN	potassium voltage-gated channel, delayed-rectifier, subfamily S, member 2	83					protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)	p.H83R(1)		autonomic_ganglia(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	31	Breast(36;2.4e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.0448)			TACGTGCTGCATTTCTATCAC	0.557																																					Pancreas(138;844 2489 9202 24627)	uc003yin.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(247-249)CAT>CGT		potassium voltage-gated channel,							137.0	108.0	118.0					8																	99440455		2203	4300	6503	SO:0001583	missense	3788					voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr8:99440455A>G	AB032970	CCDS6279.1	8q22	2011-07-05			ENSG00000156486	ENSG00000156486		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6301	protein-coding gene	gene with protein product		602906				9305895, 16382104	Standard	NM_020697		Approved	Kv9.2	uc003yin.3	Q9ULS6	OTTHUMG00000044337	ENST00000287042.4:c.248A>G	8.37:g.99440455A>G	ENSP00000287042:p.His83Arg						p.H83R	NM_020697	NP_065748	Q9ULS6	KCNS2_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;0.0448)		2	598	+	Breast(36;2.4e-06)		83			Cytoplasmic (Potential).		A8KAN1	Missense_Mutation	SNP	ENST00000287042.4	37	c.248A>G	CCDS6279.1	.	.	.	.	.	.	.	.	.	.	A	20.6	4.019933	0.75275	.	.	ENSG00000156486	ENST00000287042;ENST00000521839	T;T	0.41400	1.0;1.0	5.41	5.41	0.78517	BTB/POZ-like (1);BTB/POZ fold (2);Potassium channel, voltage dependent, Kv, tetramerisation (1);	0.058079	0.64402	D	0.000002	T	0.43656	0.1257	M	0.67397	2.05	0.41698	D	0.989385	P	0.37914	0.611	B	0.34652	0.187	T	0.51371	-0.8714	10	0.72032	D	0.01	.	15.4442	0.75216	1.0:0.0:0.0:0.0	.	83	Q9ULS6	KCNS2_HUMAN	R	83	ENSP00000287042:H83R;ENSP00000430712:H83R	ENSP00000287042:H83R	H	+	2	0	KCNS2	99509631	1.000000	0.71417	0.996000	0.52242	0.990000	0.78478	9.339000	0.96797	2.044000	0.60594	0.460000	0.39030	CAT		PASS	0.557	KCNS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000103134.1	NM_020697		37	331	37	331	---	---	---	---
RGS22	26166	broad.mit.edu	37	8	101092427	101092427	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2756-01A-01D-1522-08	TCGA-66-2756-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	472c95e6-eccb-4988-be16-fdace73b2ed8	ff4f5936-f847-42ad-aedf-6a6a7fff6002	g.chr8:101092427C>A	ENST00000360863.6	-	4	468	c.274G>T	c.(274-276)Gtt>Ttt	p.V92F	RGS22_ENST00000523287.1_5'UTR|RGS22_ENST00000523437.1_Missense_Mutation_p.V92F	NM_015668.3	NP_056483.3	Q8NE09	RGS22_HUMAN	regulator of G-protein signaling 22	92					positive regulation of GTPase activity (GO:0043547)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)	p.V92F(2)	RGS22/SYCP1(2)	breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(33)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	68			Epithelial(11;6.71e-08)|all cancers(13;4.19e-06)|OV - Ovarian serous cystadenocarcinoma(57;0.000469)|STAD - Stomach adenocarcinoma(118;0.169)			ACAGGTTTAACCTCATTCTTT	0.338																																						uc003yjb.1																			2	Substitution - Missense(2)		lung(2)	ovary(3)|skin(2)|breast(1)|central_nervous_system(1)	7						c.(274-276)GTT>TTT		regulator of G-protein signaling 22							144.0	136.0	139.0					8																	101092427		1857	4086	5943	SO:0001583	missense	26166				negative regulation of signal transduction	cytoplasm|plasma membrane	GTPase activator activity|signal transducer activity	g.chr8:101092427C>A	AY009106	CCDS43758.1, CCDS69521.1, CCDS75775.1	8q22.2	2014-01-21	2007-08-14		ENSG00000132554	ENSG00000132554		"""Regulators of G-protein signaling"""	24499	protein-coding gene	gene with protein product		615650	"""regulator of G-protein signalling 22"""				Standard	XM_005250856		Approved	DKFZP434I092, PRTD-NY2, CT145	uc003yjb.1	Q8NE09	OTTHUMG00000164802	ENST00000360863.6:c.274G>T	8.37:g.101092427C>A	ENSP00000354109:p.Val92Phe					RGS22_uc003yja.1_5'UTR|RGS22_uc003yjc.1_Missense_Mutation_p.V92F|RGS22_uc010mbo.1_RNA	p.V92F	NM_015668	NP_056483	Q8NE09	RGS22_HUMAN	Epithelial(11;6.71e-08)|all cancers(13;4.19e-06)|OV - Ovarian serous cystadenocarcinoma(57;0.000469)|STAD - Stomach adenocarcinoma(118;0.169)		4	469	-			92					A8K944|Q569L2|Q86Y71|Q9BYZ4|Q9UFN6	Missense_Mutation	SNP	ENST00000360863.6	37	c.274G>T	CCDS43758.1	.	.	.	.	.	.	.	.	.	.	C	12.16	1.854897	0.32791	.	.	ENSG00000132554	ENST00000360863;ENST00000427793;ENST00000523437	T;T	0.64260	-0.09;-0.09	5.47	0.366	0.16136	.	1.560380	0.03650	N	0.240936	T	0.48978	0.1530	L	0.34521	1.04	0.09310	N	1	P;P	0.37864	0.61;0.61	B;B	0.33690	0.168;0.168	T	0.39881	-0.9592	10	0.52906	T	0.07	.	5.6035	0.17367	0.1236:0.4383:0.0:0.4381	.	92;92	A8K944;Q8NE09	.;RGS22_HUMAN	F	92	ENSP00000354109:V92F;ENSP00000428212:V92F	ENSP00000354109:V92F	V	-	1	0	RGS22	101161603	0.000000	0.05858	0.001000	0.08648	0.110000	0.19582	-0.065000	0.11617	-0.145000	0.11294	0.585000	0.79938	GTT		PASS	0.338	RGS22-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000380365.1	NM_015668		44	415	44	415	---	---	---	---
ANKRD46	157567	broad.mit.edu	37	8	101541821	101541821	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2756-01A-01D-1522-08	TCGA-66-2756-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	472c95e6-eccb-4988-be16-fdace73b2ed8	ff4f5936-f847-42ad-aedf-6a6a7fff6002	g.chr8:101541821C>T	ENST00000520552.1	-	3	402	c.241G>A	c.(241-243)Gct>Act	p.A81T	ANKRD46_ENST00000520311.1_Missense_Mutation_p.A81T|ANKRD46_ENST00000519316.1_Missense_Mutation_p.A81T|ANKRD46_ENST00000519597.1_Missense_Mutation_p.A81T|ANKRD46_ENST00000335659.3_Missense_Mutation_p.A81T	NM_001270379.1	NP_001257308.1	Q86W74	ANR46_HUMAN	ankyrin repeat domain 46	81						integral component of membrane (GO:0016021)		p.A81T(2)		kidney(1)|large_intestine(2)|lung(4)	7	all_cancers(14;5.07e-05)|all_epithelial(15;2.84e-07)|Lung NSC(17;0.000353)|all_lung(17;0.000998)		Epithelial(11;2.61e-11)|all cancers(13;5.03e-09)|OV - Ovarian serous cystadenocarcinoma(57;4.49e-06)|STAD - Stomach adenocarcinoma(118;0.0957)			AGGTGAAGAGCTGTGTTTCCT	0.433																																						uc003yjm.2																			2	Substitution - Missense(2)		lung(2)		0						c.(241-243)GCT>ACT		ankyrin repeat domain 46							123.0	113.0	117.0					8																	101541821		2203	4300	6503	SO:0001583	missense	157567					integral to membrane		g.chr8:101541821C>T	AB077205	CCDS6287.1, CCDS59109.1	8q22.3	2013-01-10						"""Ankyrin repeat domain containing"""	27229	protein-coding gene	gene with protein product							Standard	NM_001270377		Approved		uc003yjm.4	Q86W74		ENST00000520552.1:c.241G>A	8.37:g.101541821C>T	ENSP00000429015:p.Ala81Thr					ANKRD46_uc003yjn.1_Missense_Mutation_p.A81T|ANKRD46_uc003yjo.1_Missense_Mutation_p.A81T|ANKRD46_uc003yjp.1_Missense_Mutation_p.A81T	p.A81T	NM_198401	NP_940683	Q86W74	ANR46_HUMAN	Epithelial(11;2.61e-11)|all cancers(13;5.03e-09)|OV - Ovarian serous cystadenocarcinoma(57;4.49e-06)|STAD - Stomach adenocarcinoma(118;0.0957)		3	445	-	all_cancers(14;5.07e-05)|all_epithelial(15;2.84e-07)|Lung NSC(17;0.000353)|all_lung(17;0.000998)		81			ANK 3.		Q6P9B7	Missense_Mutation	SNP	ENST00000520552.1	37	c.241G>A	CCDS59109.1	.	.	.	.	.	.	.	.	.	.	C	36	5.626083	0.96671	.	.	ENSG00000186106	ENST00000520552;ENST00000335659;ENST00000519597;ENST00000520311;ENST00000519316;ENST00000358990;ENST00000524072;ENST00000523000;ENST00000521345	T;T;T;T;T;T;T;T;T	0.70986	0.88;0.88;0.88;0.88;0.88;0.88;0.88;-0.53;1.07	5.78	5.78	0.91487	Ankyrin repeat-containing domain (4);	0.000000	0.85682	D	0.000000	D	0.85296	0.5664	M	0.79614	2.46	0.80722	D	1	D;D	0.69078	0.988;0.997	P;D	0.79108	0.908;0.992	D	0.85773	0.1356	10	0.66056	D	0.02	-18.5074	20.0124	0.97464	0.0:1.0:0.0:0.0	.	81;81	Q86W74-2;Q86W74	.;ANR46_HUMAN	T	81	ENSP00000429015:A81T;ENSP00000335287:A81T;ENSP00000430056:A81T;ENSP00000428388:A81T;ENSP00000430827:A81T;ENSP00000351881:A81T;ENSP00000430357:A81T;ENSP00000430800:A81T;ENSP00000429647:A81T	ENSP00000335287:A81T	A	-	1	0	ANKRD46	101610997	1.000000	0.71417	0.998000	0.56505	0.991000	0.79684	7.363000	0.79516	2.749000	0.94314	0.655000	0.94253	GCT		PASS	0.433	ANKRD46-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000379899.1	NM_198401		22	240	22	240	---	---	---	---
RIMS2	9699	broad.mit.edu	37	8	104898440	104898440	+	Missense_Mutation	SNP	T	T	C			TCGA-66-2756-01A-01D-1522-08	TCGA-66-2756-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	472c95e6-eccb-4988-be16-fdace73b2ed8	ff4f5936-f847-42ad-aedf-6a6a7fff6002	g.chr8:104898440T>C	ENST00000436393.2	+	2	1188	c.947T>C	c.(946-948)gTa>gCa	p.V316A	RIMS2_ENST00000262231.10_Missense_Mutation_p.V346A|RIMS2_ENST00000507740.1_Missense_Mutation_p.V346A|RIMS2_ENST00000406091.3_Missense_Mutation_p.V538A			Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2	569					calcium ion-dependent exocytosis (GO:0017156)|calcium ion-dependent exocytosis of neurotransmitter (GO:0048791)|cAMP-mediated signaling (GO:0019933)|insulin secretion (GO:0030073)|intracellular protein transport (GO:0006886)|positive regulation of gene expression (GO:0010628)|positive regulation of inhibitory postsynaptic membrane potential (GO:0097151)|regulation of exocytosis (GO:0017157)	cell junction (GO:0030054)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)	metal ion binding (GO:0046872)	p.V346A(2)|p.V316A(1)|p.V538A(1)|p.V574A(1)		NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1)	144			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)			AGTGAGAGTGTAAGTGAAAAA	0.348										HNSCC(12;0.0054)																												uc003yls.2																			5	Substitution - Missense(5)		lung(5)	ovary(6)|lung(2)|breast(2)|skin(2)|large_intestine(1)|central_nervous_system(1)|pancreas(1)	15						c.(946-948)GTA>GCA		regulating synaptic membrane exocytosis 2							48.0	44.0	45.0					8																	104898440		1898	4089	5987	SO:0001583	missense	9699				intracellular protein transport	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding	g.chr8:104898440T>C	AB018294	CCDS43761.1, CCDS64948.1, CCDS64949.1	8q22.3	2008-08-08	2002-06-12	2002-06-14					17283	protein-coding gene	gene with protein product		606630	"""RAB3 interacting protein 3"""	RAB3IP3		9872452, 12578829	Standard	NM_014677		Approved	KIAA0751, RIM2, OBOE	uc003ylp.3	Q9UQ26		ENST00000436393.2:c.947T>C	8.37:g.104898440T>C	ENSP00000390665:p.Val316Ala	HNSCC(12;0.0054)				RIMS2_uc003ylp.2_Missense_Mutation_p.V538A|RIMS2_uc003ylw.2_Missense_Mutation_p.V346A|RIMS2_uc003ylq.2_Missense_Mutation_p.V346A|RIMS2_uc003ylr.2_Missense_Mutation_p.V346A	p.V316A	NM_014677	NP_055492	Q9UQ26	RIMS2_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)		2	1188	+			569					B3KX91|F8WD47|O43413|Q86XL9|Q8IWV9|Q8IWW1	Missense_Mutation	SNP	ENST00000436393.2	37	c.947T>C		.	.	.	.	.	.	.	.	.	.	T	22.4	4.281999	0.80692	.	.	ENSG00000176406	ENST00000504942;ENST00000329869;ENST00000406091;ENST00000402998;ENST00000515551;ENST00000262231;ENST00000507740;ENST00000408894;ENST00000436393	T;T;T;T;T;T;T	0.24151	1.87;2.35;1.98;1.92;1.99;1.92;2.3	5.54	5.54	0.83059	.	.	.	.	.	T	0.47322	0.1439	L	0.55213	1.73	0.80722	D	1	D;D;P;P;D	0.63046	0.964;0.992;0.708;0.907;0.962	P;D;P;P;P	0.75484	0.757;0.986;0.539;0.57;0.798	T	0.45338	-0.9268	9	0.72032	D	0.01	.	15.6758	0.77321	0.0:0.0:0.0:1.0	.	569;316;346;346;538	Q9UQ26;D6RA03;Q9UQ26-1;Q9UQ26-3;F8WD47	RIMS2_HUMAN;.;.;.;.	A	538;569;538;569;346;346;346;346;316	ENSP00000427018:V538A;ENSP00000384892:V538A;ENSP00000425205:V346A;ENSP00000262231:V346A;ENSP00000423559:V346A;ENSP00000386228:V346A;ENSP00000390665:V316A	ENSP00000262231:V346A	V	+	2	0	RIMS2	104967616	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.253000	0.72453	2.099000	0.63709	0.460000	0.39030	GTA		PASS	0.348	RIMS2-007	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000367217.1	NM_001100117		14	158	14	158	---	---	---	---
ZFPM2	23414	broad.mit.edu	37	8	106815488	106815488	+	Missense_Mutation	SNP	C	C	A	rs201190084		TCGA-66-2756-01A-01D-1522-08	TCGA-66-2756-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	472c95e6-eccb-4988-be16-fdace73b2ed8	ff4f5936-f847-42ad-aedf-6a6a7fff6002	g.chr8:106815488C>A	ENST00000407775.2	+	8	3428	c.3178C>A	c.(3178-3180)Caa>Aaa	p.Q1060K	RP11-152P17.2_ENST00000521622.1_RNA|ZFPM2_ENST00000378472.4_Missense_Mutation_p.Q791K|RP11-152P17.2_ENST00000518932.1_RNA|RP11-152P17.2_ENST00000520433.1_RNA|RP11-152P17.2_ENST00000524045.2_RNA|ZFPM2_ENST00000520492.1_Missense_Mutation_p.Q928K|RP11-152P17.2_ENST00000509144.2_RNA|ZFPM2_ENST00000522296.1_3'UTR|ZFPM2_ENST00000517361.1_Missense_Mutation_p.Q928K|RP11-152P17.2_ENST00000520594.1_RNA	NM_012082.3	NP_036214.2	Q8WW38	FOG2_HUMAN	zinc finger protein, FOG family member 2	1060					blood coagulation (GO:0007596)|embryonic organ development (GO:0048568)|gonadal mesoderm development (GO:0007506)|in utero embryonic development (GO:0001701)|lung development (GO:0030324)|negative regulation of cell death (GO:0060548)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of female gonad development (GO:2000195)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|outflow tract septum morphogenesis (GO:0003148)|positive regulation of male gonad development (GO:2000020)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|right ventricular cardiac muscle tissue morphogenesis (GO:0003221)|vasculogenesis (GO:0001570)|ventricular septum morphogenesis (GO:0060412)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|nucleic acid binding transcription factor activity (GO:0001071)|RNA polymerase II transcription coactivator activity (GO:0001105)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)	p.Q1060K(1)		NS(4)|breast(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(11)|liver(2)|lung(48)|ovary(4)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	99			OV - Ovarian serous cystadenocarcinoma(57;8.28e-08)			CAACCCACAGCAAGAGAACAT	0.478																																						uc003ymd.2																			1	Substitution - Missense(1)		lung(1)	ovary(4)|large_intestine(1)	5						c.(3178-3180)CAA>AAA		zinc finger protein, multitype 2							66.0	66.0	66.0					8																	106815488		1964	4150	6114	SO:0001583	missense	23414				blood coagulation|negative regulation of fat cell differentiation|outflow tract septum morphogenesis|right ventricular cardiac muscle tissue morphogenesis|ventricular septum morphogenesis	nucleoplasm	DNA binding|RNA polymerase II transcription coactivator activity|transcription corepressor activity|transcription factor binding|zinc ion binding	g.chr8:106815488C>A	AF119334	CCDS47908.1	8q23	2013-01-10	2012-11-27		ENSG00000169946	ENSG00000169946		"""Zinc fingers, C2H2-type"", ""Zinc fingers, C2HC-type containing"""	16700	protein-coding gene	gene with protein product		603693	"""zinc finger protein, multitype 2"""			9927675, 10438528	Standard	NM_012082		Approved	FOG2, hFOG-2, ZNF89B, ZC2HC11B	uc003ymd.3	Q8WW38	OTTHUMG00000164818	ENST00000407775.2:c.3178C>A	8.37:g.106815488C>A	ENSP00000384179:p.Gln1060Lys					ZFPM2_uc011lhs.1_Missense_Mutation_p.Q791K	p.Q1060K	NM_012082	NP_036214	Q8WW38	FOG2_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;8.28e-08)		8	3201	+			1060					Q32MA6|Q9NPL7|Q9NPS4|Q9UNI5	Missense_Mutation	SNP	ENST00000407775.2	37	c.3178C>A	CCDS47908.1	.	.	.	.	.	.	.	.	.	.	C	14.43	2.534335	0.45073	.	.	ENSG00000169946	ENST00000407775;ENST00000520492;ENST00000517361;ENST00000378472	T;T;T;T	0.19938	2.11;2.6;2.6;3.8	5.96	5.96	0.96718	.	0.000000	0.85682	D	0.000000	T	0.18257	0.0438	L	0.27053	0.805	0.80722	D	1	B	0.26483	0.15	B	0.24848	0.056	T	0.07102	-1.0790	10	0.18276	T	0.48	.	20.4192	0.99033	0.0:1.0:0.0:0.0	.	1060	Q8WW38	FOG2_HUMAN	K	1060;928;928;791	ENSP00000384179:Q1060K;ENSP00000430757:Q928K;ENSP00000428720:Q928K;ENSP00000367733:Q791K	ENSP00000367733:Q791K	Q	+	1	0	ZFPM2	106884664	1.000000	0.71417	1.000000	0.80357	0.902000	0.53008	7.487000	0.81328	2.831000	0.97527	0.650000	0.86243	CAA		PASS	0.478	ZFPM2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380614.1			39	72	39	72	---	---	---	---
PKHD1L1	93035	broad.mit.edu	37	8	110451189	110451189	+	Missense_Mutation	SNP	T	T	C	rs200212277		TCGA-66-2756-01A-01D-1522-08	TCGA-66-2756-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	472c95e6-eccb-4988-be16-fdace73b2ed8	ff4f5936-f847-42ad-aedf-6a6a7fff6002	g.chr8:110451189T>C	ENST00000378402.5	+	32	3928	c.3824T>C	c.(3823-3825)gTg>gCg	p.V1275A		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	1275	IPT/TIG 6.				immune response (GO:0006955)	cytosol (GO:0005829)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)	receptor activity (GO:0004872)	p.V1277A(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)			AACATGGCGGTGTATGTTGGA	0.333										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.(3823-3825)GTG>GCG		fibrocystin L precursor							77.0	74.0	75.0					8																	110451189		1815	4076	5891	SO:0001583	missense	93035				immune response	cytosol|extracellular space|integral to membrane	receptor activity	g.chr8:110451189T>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.3824T>C	8.37:g.110451189T>C	ENSP00000367655:p.Val1275Ala	HNSCC(38;0.096)					p.V1275A	NM_177531	NP_803875	Q86WI1	PKHL1_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)		32	3928	+			1275			Extracellular (Potential).|IPT/TIG 6.		Q567P2|Q9UF27	Missense_Mutation	SNP	ENST00000378402.5	37	c.3824T>C	CCDS47911.1	.	.	.	.	.	.	.	.	.	.	T	17.59	3.427070	0.62733	.	.	ENSG00000205038	ENST00000378402	D	0.83914	-1.78	5.7	5.7	0.88788	Cell surface receptor IPT/TIG (2);Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.000000	0.64402	D	0.000001	D	0.87645	0.6229	M	0.89095	3.005	0.35650	D	0.811715	P	0.37207	0.587	B	0.42112	0.376	D	0.92486	0.5996	10	0.87932	D	0	.	13.925	0.63958	0.0:0.0:0.0:1.0	.	1275	Q86WI1	PKHL1_HUMAN	A	1275	ENSP00000367655:V1275A	ENSP00000367655:V1275A	V	+	2	0	PKHD1L1	110520365	1.000000	0.71417	0.163000	0.22734	0.422000	0.31414	5.250000	0.65432	2.172000	0.68678	0.533000	0.62120	GTG		PASS	0.333	PKHD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381017.1	NM_177531		18	186	18	186	---	---	---	---
PKHD1L1	93035	broad.mit.edu	37	8	110539082	110539082	+	Missense_Mutation	SNP	T	T	C			TCGA-66-2756-01A-01D-1522-08	TCGA-66-2756-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	472c95e6-eccb-4988-be16-fdace73b2ed8	ff4f5936-f847-42ad-aedf-6a6a7fff6002	g.chr8:110539082T>C	ENST00000378402.5	+	77	12658	c.12554T>C	c.(12553-12555)cTg>cCg	p.L4185P		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	4185					immune response (GO:0006955)	cytosol (GO:0005829)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)	receptor activity (GO:0004872)	p.L4189P(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)			TTCAGCCTGCTGGCAGAGTCT	0.403										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.(12553-12555)CTG>CCG		fibrocystin L precursor							39.0	41.0	41.0					8																	110539082		1996	4187	6183	SO:0001583	missense	93035				immune response	cytosol|extracellular space|integral to membrane	receptor activity	g.chr8:110539082T>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.12554T>C	8.37:g.110539082T>C	ENSP00000367655:p.Leu4185Pro	HNSCC(38;0.096)					p.L4185P	NM_177531	NP_803875	Q86WI1	PKHL1_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)		77	12658	+			4185			Extracellular (Potential).		Q567P2|Q9UF27	Missense_Mutation	SNP	ENST00000378402.5	37	c.12554T>C	CCDS47911.1	.	.	.	.	.	.	.	.	.	.	T	0.265	-0.996814	0.02145	.	.	ENSG00000205038	ENST00000378402;ENST00000526472	D;D	0.85773	-2.03;-1.86	5.64	2.61	0.31194	.	0.864011	0.10227	N	0.700182	T	0.59649	0.2209	N	0.01048	-1.04	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.50939	-0.8768	10	0.30078	T	0.28	.	4.5059	0.11887	0.1646:0.6226:0.0:0.2127	.	4185	Q86WI1	PKHL1_HUMAN	P	4185;1113	ENSP00000367655:L4185P;ENSP00000437376:L1113P	ENSP00000367655:L4185P	L	+	2	0	PKHD1L1	110608258	0.000000	0.05858	0.000000	0.03702	0.019000	0.09904	-0.248000	0.08854	0.185000	0.20105	-1.385000	0.01166	CTG		PASS	0.403	PKHD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381017.1	NM_177531		4	20	4	20	---	---	---	---
CSMD3	114788	broad.mit.edu	37	8	113299427	113299427	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2756-01A-01D-1522-08	TCGA-66-2756-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	472c95e6-eccb-4988-be16-fdace73b2ed8	ff4f5936-f847-42ad-aedf-6a6a7fff6002	g.chr8:113299427G>T	ENST00000297405.5	-	58	9441	c.9197C>A	c.(9196-9198)tCt>tAt	p.S3066Y	CSMD3_ENST00000455883.2_Missense_Mutation_p.S2897Y|CSMD3_ENST00000343508.3_Missense_Mutation_p.S3026Y|CSMD3_ENST00000352409.3_Missense_Mutation_p.S2996Y	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	3066	Sushi 22. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.S3026Y(1)|p.S3066Y(1)		breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						TTCCTGTCTAGAGCCATGGCC	0.413										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																												uc003ynu.2																			2	Substitution - Missense(2)		lung(2)	ovary(21)|lung(11)|skin(11)|kidney(8)|large_intestine(6)|upper_aerodigestive_tract(2)|central_nervous_system(2)|urinary_tract(1)|breast(1)	63						c.(9196-9198)TCT>TAT		CUB and Sushi multiple domains 3 isoform 1							139.0	122.0	128.0					8																	113299427		2203	4300	6503	SO:0001583	missense	114788					integral to membrane|plasma membrane		g.chr8:113299427G>T	AY210419	CCDS6315.1, CCDS6316.2, CCDS6317.1	8q23.3	2007-01-06			ENSG00000164796	ENSG00000164796			19291	protein-coding gene	gene with protein product		608399					Standard	NM_052900		Approved		uc003ynu.3	Q7Z407	OTTHUMG00000157027	ENST00000297405.5:c.9197C>A	8.37:g.113299427G>T	ENSP00000297405:p.Ser3066Tyr	HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				CSMD3_uc003yns.2_Missense_Mutation_p.S2268Y|CSMD3_uc003ynt.2_Missense_Mutation_p.S3026Y|CSMD3_uc011lhx.1_Missense_Mutation_p.S2897Y	p.S3066Y	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN			58	9356	-			3066			Extracellular (Potential).|Sushi 22.		Q96PZ3	Missense_Mutation	SNP	ENST00000297405.5	37	c.9197C>A	CCDS6315.1	.	.	.	.	.	.	.	.	.	.	G	14.46	2.541073	0.45280	.	.	ENSG00000164796	ENST00000343508;ENST00000297405;ENST00000339701;ENST00000455883;ENST00000352409	T;T;T;T;T	0.64991	-0.13;-0.13;-0.13;-0.13;-0.13	5.26	5.26	0.73747	Complement control module (2);Sushi/SCR/CCP (3);	0.485962	0.20453	N	0.092054	T	0.69913	0.3164	L	0.51853	1.615	0.34996	D	0.755526	D;P;P	0.60160	0.987;0.767;0.903	P;P;P	0.62649	0.905;0.74;0.828	T	0.65615	-0.6125	10	0.02654	T	1	.	19.229	0.93829	0.0:0.0:1.0:0.0	.	2897;3066;3026	Q7Z407-3;Q7Z407;Q7Z407-2	.;CSMD3_HUMAN;.	Y	3026;3066;2336;2897;2996	ENSP00000345799:S3026Y;ENSP00000297405:S3066Y;ENSP00000341558:S2336Y;ENSP00000412263:S2897Y;ENSP00000343124:S2996Y	ENSP00000297405:S3066Y	S	-	2	0	CSMD3	113368603	0.983000	0.35010	1.000000	0.80357	0.579000	0.36224	2.838000	0.48199	2.618000	0.88619	0.650000	0.86243	TCT		PASS	0.413	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1	NM_052900		30	273	30	273	---	---	---	---
CSMD3	114788	broad.mit.edu	37	8	113314025	113314025	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2756-01A-01D-1522-08	TCGA-66-2756-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	472c95e6-eccb-4988-be16-fdace73b2ed8	ff4f5936-f847-42ad-aedf-6a6a7fff6002	g.chr8:113314025G>T	ENST00000297405.5	-	53	8681	c.8437C>A	c.(8437-8439)Cta>Ata	p.L2813I	CSMD3_ENST00000455883.2_Missense_Mutation_p.L2644I|CSMD3_ENST00000343508.3_Missense_Mutation_p.L2773I|CSMD3_ENST00000352409.3_Missense_Mutation_p.L2743I	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	2813	Sushi 17. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.L2813I(1)|p.L2773I(1)		breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						TCTGTACCTAGGCATCTGGTT	0.418										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																												uc003ynu.2																			2	Substitution - Missense(2)		lung(2)	ovary(21)|lung(11)|skin(11)|kidney(8)|large_intestine(6)|upper_aerodigestive_tract(2)|central_nervous_system(2)|urinary_tract(1)|breast(1)	63						c.(8437-8439)CTA>ATA		CUB and Sushi multiple domains 3 isoform 1							96.0	102.0	100.0					8																	113314025		2203	4300	6503	SO:0001583	missense	114788					integral to membrane|plasma membrane		g.chr8:113314025G>T	AY210419	CCDS6315.1, CCDS6316.2, CCDS6317.1	8q23.3	2007-01-06			ENSG00000164796	ENSG00000164796			19291	protein-coding gene	gene with protein product		608399					Standard	NM_052900		Approved		uc003ynu.3	Q7Z407	OTTHUMG00000157027	ENST00000297405.5:c.8437C>A	8.37:g.113314025G>T	ENSP00000297405:p.Leu2813Ile	HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				CSMD3_uc003yns.2_Missense_Mutation_p.L2015I|CSMD3_uc003ynt.2_Missense_Mutation_p.L2773I|CSMD3_uc011lhx.1_Missense_Mutation_p.L2644I	p.L2813I	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN			53	8596	-			2813			Extracellular (Potential).|Sushi 17.		Q96PZ3	Missense_Mutation	SNP	ENST00000297405.5	37	c.8437C>A	CCDS6315.1	.	.	.	.	.	.	.	.	.	.	G	20.6	4.014884	0.75161	.	.	ENSG00000164796	ENST00000343508;ENST00000297405;ENST00000339701;ENST00000455883;ENST00000352409	T;T;T;T;T	0.23950	1.88;1.88;1.88;1.88;1.88	5.62	0.101	0.14517	Complement control module (2);Sushi/SCR/CCP (1);	0.000000	0.52532	D	0.000076	T	0.22820	0.0551	L	0.38649	1.16	0.33602	D	0.602454	P;B;P	0.48162	0.906;0.335;0.732	P;B;P	0.50440	0.641;0.058;0.561	T	0.31806	-0.9930	10	0.22109	T	0.4	.	8.3346	0.32206	0.6744:0.0:0.3256:0.0	.	2644;2813;2773	Q7Z407-3;Q7Z407;Q7Z407-2	.;CSMD3_HUMAN;.	I	2773;2813;2083;2644;2743	ENSP00000345799:L2773I;ENSP00000297405:L2813I;ENSP00000341558:L2083I;ENSP00000412263:L2644I;ENSP00000343124:L2743I	ENSP00000297405:L2813I	L	-	1	2	CSMD3	113383201	1.000000	0.71417	0.999000	0.59377	0.991000	0.79684	0.932000	0.28884	0.126000	0.18424	0.655000	0.94253	CTA		PASS	0.418	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1	NM_052900		12	176	12	176	---	---	---	---
SLC30A8	169026	broad.mit.edu	37	8	118165221	118165221	+	Missense_Mutation	SNP	G	G	A			TCGA-66-2756-01A-01D-1522-08	TCGA-66-2756-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	472c95e6-eccb-4988-be16-fdace73b2ed8	ff4f5936-f847-42ad-aedf-6a6a7fff6002	g.chr8:118165221G>A	ENST00000456015.2	+	3	310	c.310G>A	c.(310-312)Gct>Act	p.A104T	SLC30A8_ENST00000427715.2_Missense_Mutation_p.A55T|SLC30A8_ENST00000519688.1_Missense_Mutation_p.A55T|SLC30A8_ENST00000521243.1_Missense_Mutation_p.A55T	NM_173851.2	NP_776250.2	Q8IWU4	ZNT8_HUMAN	solute carrier family 30 (zinc transporter), member 8	104					cellular zinc ion homeostasis (GO:0006882)|insulin secretion (GO:0030073)|positive regulation of insulin secretion (GO:0032024)|regulation of sequestering of zinc ion (GO:0061088)|regulation of vesicle-mediated transport (GO:0060627)|response to glucose (GO:0009749)|response to interferon-gamma (GO:0034341)|response to interleukin-1 (GO:0070555)|sequestering of zinc ion (GO:0032119)|transmembrane transport (GO:0055085)|zinc ion transmembrane transport (GO:0071577)|zinc ion transport (GO:0006829)	cytoplasmic membrane-bounded vesicle (GO:0016023)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|secretory granule (GO:0030141)|secretory granule membrane (GO:0030667)	protein homodimerization activity (GO:0042803)|zinc ion binding (GO:0008270)|zinc ion transmembrane transporter activity (GO:0005385)	p.A104T(1)		breast(1)|endometrium(2)|large_intestine(9)|liver(2)|lung(18)|ovary(2)|pancreas(2)|skin(5)	41	all_cancers(13;2.11e-22)|Lung NSC(37;6.08e-05)|Ovarian(258;0.0173)		STAD - Stomach adenocarcinoma(47;0.203)			TGTCACAGATGCTGCCCACCT	0.493																																					Ovarian(162;1202 1922 6011 16223 52092)	uc003yoh.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(2)	4						c.(310-312)GCT>ACT		solute carrier family 30 member 8							203.0	155.0	171.0					8																	118165221		2203	4300	6503	SO:0001583	missense	169026				insulin secretion|positive regulation of insulin secretion|regulation of sequestering of zinc ion|regulation of vesicle-mediated transport|response to glucose stimulus|sequestering of zinc ion	integral to membrane|plasma membrane|secretory granule membrane|transport vesicle membrane	protein homodimerization activity|zinc ion transmembrane transporter activity	g.chr8:118165221G>A		CCDS6322.1, CCDS55272.1	8q24.11	2014-08-12			ENSG00000164756			"""Solute carriers"""	20303	protein-coding gene	gene with protein product		611145					Standard	NM_001172811		Approved		uc003yoh.3	Q8IWU4	OTTHUMG00000164962	ENST00000456015.2:c.310G>A	8.37:g.118165221G>A	ENSP00000415011:p.Ala104Thr					SLC30A8_uc010mcz.2_Missense_Mutation_p.A55T|SLC30A8_uc011lia.1_Missense_Mutation_p.A55T|SLC30A8_uc003yog.2_Missense_Mutation_p.A55T	p.A104T	NM_173851	NP_776250	Q8IWU4	ZNT8_HUMAN	STAD - Stomach adenocarcinoma(47;0.203)		3	540	+	all_cancers(13;2.11e-22)|Lung NSC(37;6.08e-05)|Ovarian(258;0.0173)		104			Helical; (Potential).		A0AVP9|A5YM39|B4DPE0|Q8TCL3	Missense_Mutation	SNP	ENST00000456015.2	37	c.310G>A	CCDS6322.1	.	.	.	.	.	.	.	.	.	.	G	36	5.618025	0.96649	.	.	ENSG00000164756	ENST00000521243;ENST00000524274;ENST00000427715;ENST00000519688;ENST00000456015	T;T;T;T;T	0.71341	-0.56;-0.56;-0.56;-0.56;-0.56	5.16	5.16	0.70880	.	0.052468	0.85682	D	0.000000	D	0.83562	0.5281	M	0.83953	2.67	0.80722	D	1	P	0.39131	0.661	P	0.53549	0.729	D	0.85333	0.1091	10	0.87932	D	0	-11.6537	17.8242	0.88660	0.0:0.0:1.0:0.0	.	104	Q8IWU4	ZNT8_HUMAN	T	55;55;55;55;104	ENSP00000428545:A55T;ENSP00000427760:A55T;ENSP00000407505:A55T;ENSP00000431069:A55T;ENSP00000415011:A104T	ENSP00000407505:A55T	A	+	1	0	SLC30A8	118234402	1.000000	0.71417	1.000000	0.80357	0.854000	0.48673	9.589000	0.98235	2.694000	0.91930	0.655000	0.94253	GCT		PASS	0.493	SLC30A8-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381205.1	NM_173851		22	291	22	291	---	---	---	---
MAL2	114569	broad.mit.edu	37	8	120233905	120233905	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2756-01A-01D-1522-08	TCGA-66-2756-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	472c95e6-eccb-4988-be16-fdace73b2ed8	ff4f5936-f847-42ad-aedf-6a6a7fff6002	g.chr8:120233905G>T	ENST00000276681.6	+	3	313	c.211G>T	c.(211-213)Gtg>Ttg	p.V71L	MAL2_ENST00000521748.1_3'UTR|RP11-4K16.2_ENST00000522828.1_lincRNA	NM_052886.2	NP_443118.1	Q969L2	MAL2_HUMAN	mal, T-cell differentiation protein 2 (gene/pseudogene)	71	MARVEL. {ECO:0000255|PROSITE- ProRule:PRU00581}.					cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)						all_cancers(13;1.91e-26)|Lung NSC(37;8.61e-08)|Ovarian(258;0.018)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.000967)			GGTCATGTTTGTGTCCGTGAC	0.478																																						uc003yop.2																			0					0						c.(211-213)GTG>TTG		MAL2 proteolipid protein							247.0	246.0	246.0					8																	120233905		1983	4169	6152	SO:0001583	missense	114569					apical plasma membrane|endomembrane system|integral to membrane|perinuclear region of cytoplasm	protein binding	g.chr8:120233905G>T	AL117612	CCDS75780.1	8q23	2011-01-26	2011-01-26			ENSG00000147676			13634	protein-coding gene	gene with protein product	"""MAL proteolipid protein 2"""	609684				11549320	Standard	NM_052886		Approved		uc003yop.3	Q969L2		ENST00000276681.6:c.211G>T	8.37:g.120233905G>T	ENSP00000475434:p.Val71Leu						p.V71L	NM_052886	NP_443118	Q969L2	MAL2_HUMAN	STAD - Stomach adenocarcinoma(47;0.000967)		3	313	+	all_cancers(13;1.91e-26)|Lung NSC(37;8.61e-08)|Ovarian(258;0.018)|Hepatocellular(40;0.161)		71			MARVEL.|Helical; (Potential).		B2R520|Q6ZMD9	Missense_Mutation	SNP	ENST00000276681.6	37	c.211G>T																																																																																					PASS	0.478	MAL2-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_052886		98	719	98	719	---	---	---	---
ANXA13	312	broad.mit.edu	37	8	124714890	124714890	+	Missense_Mutation	SNP	A	A	G			TCGA-66-2756-01A-01D-1522-08	TCGA-66-2756-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	472c95e6-eccb-4988-be16-fdace73b2ed8	ff4f5936-f847-42ad-aedf-6a6a7fff6002	g.chr8:124714890A>G	ENST00000419625.1	-	3	250	c.178T>C	c.(178-180)Tac>Cac	p.Y60H	ANXA13_ENST00000262219.6_Missense_Mutation_p.Y101H	NM_004306.2	NP_004297.2	P27216	ANX13_HUMAN	annexin A13	60					cell differentiation (GO:0030154)|negative regulation of Golgi to plasma membrane protein transport (GO:0042997)|positive regulation of Golgi to plasma membrane protein transport (GO:0042998)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|exocytic vesicle (GO:0070382)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|phosphatidylglycerol binding (GO:1901611)|phosphatidylserine binding (GO:0001786)	p.Y101H(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(2)	25	Lung NSC(37;2.06e-11)|Ovarian(258;0.00579)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00288)			ACCTTGCCGTACGTTGCCTTG	0.512																																						uc003yqu.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|pancreas(1)|skin(1)	3						c.(178-180)TAC>CAC		annexin A13 isoform a							337.0	237.0	271.0					8																	124714890		2203	4300	6503	SO:0001583	missense	312				cell differentiation	plasma membrane	calcium ion binding|calcium-dependent phospholipid binding	g.chr8:124714890A>G	Z11502	CCDS34939.1, CCDS47917.1	8q24.13	2005-11-09			ENSG00000104537	ENSG00000104537		"""Annexins"""	536	protein-coding gene	gene with protein product		602573		ANX13		9503022	Standard	NM_004306		Approved		uc003yqt.3	P27216	OTTHUMG00000164987	ENST00000419625.1:c.178T>C	8.37:g.124714890A>G	ENSP00000390809:p.Tyr60His					ANXA13_uc003yqt.2_Missense_Mutation_p.Y101H	p.Y60H	NM_004306	NP_004297	P27216	ANX13_HUMAN	STAD - Stomach adenocarcinoma(47;0.00288)		3	251	-	Lung NSC(37;2.06e-11)|Ovarian(258;0.00579)|all_neural(195;0.0741)		60			Annexin 1.		Q9BQR5	Missense_Mutation	SNP	ENST00000419625.1	37	c.178T>C	CCDS47917.1	.	.	.	.	.	.	.	.	.	.	A	20.8	4.046842	0.75846	.	.	ENSG00000104537	ENST00000262219;ENST00000419625;ENST00000520519	T;T;T	0.04862	3.54;3.54;3.54	5.28	5.28	0.74379	Annexin repeat, conserved site (1);	0.112431	0.64402	D	0.000006	T	0.23766	0.0575	M	0.70842	2.15	0.58432	D	0.999998	D;D	0.89917	1.0;1.0	D;D	0.76575	0.981;0.988	T	0.00473	-1.1718	10	0.66056	D	0.02	.	14.2312	0.65892	1.0:0.0:0.0:0.0	.	60;101	P27216;P27216-2	ANX13_HUMAN;.	H	101;60;31	ENSP00000262219:Y101H;ENSP00000390809:Y60H;ENSP00000429358:Y31H	ENSP00000262219:Y101H	Y	-	1	0	ANXA13	124784071	1.000000	0.71417	0.315000	0.25238	0.840000	0.47671	7.865000	0.87049	2.008000	0.58898	0.533000	0.62120	TAC		PASS	0.512	ANXA13-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381308.1	NM_004306		20	321	20	321	---	---	---	---
ST3GAL1	6482	broad.mit.edu	37	8	134488264	134488264	+	Missense_Mutation	SNP	C	C	T	rs373146178		TCGA-66-2756-01A-01D-1522-08	TCGA-66-2756-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	472c95e6-eccb-4988-be16-fdace73b2ed8	ff4f5936-f847-42ad-aedf-6a6a7fff6002	g.chr8:134488264C>T	ENST00000319914.5	-	4	1031	c.4G>A	c.(4-6)Gtg>Atg	p.V2M	ST3GAL1_ENST00000522652.1_Missense_Mutation_p.V2M|ST3GAL1_ENST00000519435.1_5'Flank|ST3GAL1_ENST00000399640.2_Missense_Mutation_p.V2M|ST3GAL1_ENST00000521180.1_Missense_Mutation_p.V2M			Q11201	SIA4A_HUMAN	ST3 beta-galactoside alpha-2,3-sialyltransferase 1	2					carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|cellular protein modification process (GO:0006464)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate metabolic process (GO:0042339)|N-acetylneuraminate metabolic process (GO:0006054)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation (GO:0006487)|protein phosphorylation (GO:0006468)|sialylation (GO:0097503)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of Golgi membrane (GO:0030173)|membrane (GO:0016020)	beta-galactoside (CMP) alpha-2,3-sialyltransferase activity (GO:0003836)	p.V2M(1)		endometrium(3)|large_intestine(2)|lung(11)|prostate(1)	17	all_epithelial(106;1.53e-23)|Lung NSC(106;3.15e-07)|all_lung(105;1.26e-06)|Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.00721)			CGCAGGGTCACCATCTTCGCA	0.547																																						uc003yuk.2																			1	Substitution - Missense(1)		lung(1)		0						c.(4-6)GTG>ATG		ST3 beta-galactoside alpha-2,3-sialyltransferase		C	MET/VAL,MET/VAL	0,4406		0,0,2203	69.0	72.0	71.0		4,4	2.8	0.0	8		71	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	ST3GAL1	NM_173344.2,NM_003033.3	21,21	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign,benign	2/341,2/341	134488264	1,13005	2203	4300	6503	SO:0001583	missense	6482				protein glycosylation	extracellular region|Golgi cisterna membrane|integral to Golgi membrane	beta-galactoside alpha-2,3-sialyltransferase activity	g.chr8:134488264C>T	L29555	CCDS6373.1	8q24.22	2013-03-01	2003-01-14	2005-02-07	ENSG00000008513	ENSG00000008513	2.4.99.4	"""Sialyltransferases"""	10862	protein-coding gene	gene with protein product	"""ST3Gal I"""	607187	"""sialyltransferase 4A (beta-galactosidase alpha-2,3-sialytransferase)"""	SIAT4A		10504389, 7655169	Standard	NM_003033		Approved	ST3O, SIATFL, ST3GalA.1	uc003yuk.2	Q11201	OTTHUMG00000164534	ENST00000319914.5:c.4G>A	8.37:g.134488264C>T	ENSP00000318445:p.Val2Met					ST3GAL1_uc003yum.2_Missense_Mutation_p.V2M	p.V2M	NM_173344	NP_775479	Q11201	SIA4A_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.00721)		5	833	-	all_epithelial(106;1.53e-23)|Lung NSC(106;3.15e-07)|all_lung(105;1.26e-06)|Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)		2			Cytoplasmic (Potential).		O60677|Q9UN51	Missense_Mutation	SNP	ENST00000319914.5	37	c.4G>A	CCDS6373.1	.	.	.	.	.	.	.	.	.	.	C	12.44	1.938713	0.34189	0.0	1.16E-4	ENSG00000008513	ENST00000319914;ENST00000399640;ENST00000521180;ENST00000522652;ENST00000523634;ENST00000519924;ENST00000523855	T;T;T;T	0.19938	2.11;2.11;2.11;2.11	5.55	2.81	0.32909	.	0.802103	0.11326	N	0.575500	T	0.17959	0.0431	L	0.46157	1.445	0.32462	N	0.543919	B	0.06786	0.001	B	0.09377	0.004	T	0.25537	-1.0129	10	0.19147	T	0.46	-6.1119	8.8461	0.35170	0.0:0.7799:0.0:0.2201	.	2	Q11201	SIA4A_HUMAN	M	2	ENSP00000318445:V2M;ENSP00000414073:V2M;ENSP00000428540:V2M;ENSP00000430515:V2M	ENSP00000318445:V2M	V	-	1	0	ST3GAL1	134557446	0.342000	0.24809	0.018000	0.16275	0.099000	0.18886	0.648000	0.24828	0.323000	0.23307	-0.258000	0.10820	GTG		PASS	0.547	ST3GAL1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379132.1	NM_003033		19	154	19	154	---	---	---	---
BAI1	575	broad.mit.edu	37	8	143545865	143545865	+	Nonsense_Mutation	SNP	C	C	A			TCGA-66-2756-01A-01D-1522-08	TCGA-66-2756-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	472c95e6-eccb-4988-be16-fdace73b2ed8	ff4f5936-f847-42ad-aedf-6a6a7fff6002	g.chr8:143545865C>A	ENST00000517894.1	+	2	1200	c.306C>A	c.(304-306)taC>taA	p.Y102*	BAI1_ENST00000323289.5_Nonsense_Mutation_p.Y102*			O14514	BAI1_HUMAN	brain-specific angiogenesis inhibitor 1	102					axonogenesis (GO:0007409)|cell adhesion (GO:0007155)|G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell proliferation (GO:0008285)|neuropeptide signaling pathway (GO:0007218)|peripheral nervous system development (GO:0007422)|signal transduction (GO:0007165)	cell-cell junction (GO:0005911)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.Y102*(1)		NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(2)|lung(28)|ovary(4)|pancreas(1)|prostate(7)	57	all_cancers(97;2.84e-12)|all_epithelial(106;5.91e-09)|Lung NSC(106;0.000322)|all_lung(105;0.000616)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0315)|Acute lymphoblastic leukemia(118;0.155)					TGCGCACCTACCAGTTCGACT	0.701																																						uc003ywm.2																			1	Substitution - Nonsense(1)		lung(1)	lung(3)|ovary(2)|breast(1)|central_nervous_system(1)|pancreas(1)	8						c.(304-306)TAC>TAA		brain-specific angiogenesis inhibitor 1							6.0	7.0	7.0					8																	143545865		1939	4068	6007	SO:0001587	stop_gained	575				axonogenesis|cell adhesion|negative regulation of angiogenesis|negative regulation of cell proliferation|neuropeptide signaling pathway|peripheral nervous system development	cell-cell junction|integral to plasma membrane	G-protein coupled receptor activity|protein binding	g.chr8:143545865C>A	AB005297	CCDS64985.1	8q24.3	2014-08-08			ENSG00000181790	ENSG00000181790		"""-"", ""GPCR / Class B : Orphans"""	943	protein-coding gene	gene with protein product		602682				9533023	Standard	NM_001702		Approved		uc003ywm.3	O14514	OTTHUMG00000164732	ENST00000517894.1:c.306C>A	8.37:g.143545865C>A	ENSP00000430945:p.Tyr102*						p.Y102*	NM_001702	NP_001693	O14514	BAI1_HUMAN			1	489	+	all_cancers(97;2.84e-12)|all_epithelial(106;5.91e-09)|Lung NSC(106;0.000322)|all_lung(105;0.000616)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0315)|Acute lymphoblastic leukemia(118;0.155)		102			Extracellular (Potential).			Nonsense_Mutation	SNP	ENST00000517894.1	37	c.306C>A		.	.	.	.	.	.	.	.	.	.	C	39	7.326757	0.98214	.	.	ENSG00000181790	ENST00000517894;ENST00000323289	.	.	.	4.49	4.49	0.54785	.	0.192429	0.35151	U	0.003410	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	9.9344	0.41541	0.0:0.9054:0.0:0.0946	.	.	.	.	X	102	.	ENSP00000313046:Y102X	Y	+	3	2	BAI1	143542867	1.000000	0.71417	1.000000	0.80357	0.752000	0.42762	2.172000	0.42463	2.032000	0.59987	0.462000	0.41574	TAC		PASS	0.701	BAI1-001	KNOWN	non_canonical_conserved|not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000379963.3	NM_001702		12	4	12	4	---	---	---	---
PLEC	5339	broad.mit.edu	37	8	144991188	144991188	+	Silent	SNP	C	C	A			TCGA-66-2756-01A-01D-1522-08	TCGA-66-2756-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	472c95e6-eccb-4988-be16-fdace73b2ed8	ff4f5936-f847-42ad-aedf-6a6a7fff6002	g.chr8:144991188C>A	ENST00000322810.4	-	32	13381	c.13212G>T	c.(13210-13212)ctG>ctT	p.L4404L	PLEC_ENST00000436759.2_Silent_p.L4294L|PLEC_ENST00000527096.1_Silent_p.L4290L|PLEC_ENST00000354958.2_Silent_p.L4245L|PLEC_ENST00000357649.2_Silent_p.L4271L|PLEC_ENST00000398774.2_Silent_p.L4235L|PLEC_ENST00000354589.3_Silent_p.L4267L|PLEC_ENST00000356346.3_Silent_p.L4253L|PLEC_ENST00000345136.3_Silent_p.L4267L	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	4404	Globular 2.				apoptotic process (GO:0006915)|cell junction assembly (GO:0034329)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcoplasm (GO:0016528)	ankyrin binding (GO:0030506)|poly(A) RNA binding (GO:0044822)|structural constituent of muscle (GO:0008307)	p.L4294L(1)|p.L4404L(1)|p.L4267L(1)		NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						ACCAGGAGGCCAGCTGGGTCC	0.672																																						uc003zaf.1																			3	Substitution - coding silent(3)		lung(3)	large_intestine(2)|ovary(2)|pancreas(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	9						c.(13210-13212)CTG>CTT		plectin isoform 1							32.0	40.0	38.0					8																	144991188		1998	4156	6154	SO:0001819	synonymous_variant	5339				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle|structural constituent of muscle	g.chr8:144991188C>A	U53204	CCDS43769.1, CCDS43770.1, CCDS43771.1, CCDS43772.1, CCDS43773.1, CCDS43774.1, CCDS43775.1, CCDS47936.1	8q24	2010-02-04	2010-02-04	2010-02-04	ENSG00000178209	ENSG00000178209			9069	protein-coding gene	gene with protein product		601282	"""plectin 1, intermediate filament binding protein, 500kD"", ""epidermolysis bullosa simplex 1 (Ogna)"", ""plectin 1, intermediate filament binding protein 500kDa"""	EBS1, PLEC1		8633055, 8696340	Standard	XM_005250976		Approved	PCN, PLTN	uc003zaf.1	Q15149	OTTHUMG00000165291	ENST00000322810.4:c.13212G>T	8.37:g.144991188C>A						PLEC_uc003zab.1_Silent_p.L4267L|PLEC_uc003zac.1_Silent_p.L4271L|PLEC_uc003zad.2_Silent_p.L4267L|PLEC_uc003zae.1_Silent_p.L4235L|PLEC_uc003zag.1_Silent_p.L4245L|PLEC_uc003zah.2_Silent_p.L4253L|PLEC_uc003zaj.2_Silent_p.L4294L	p.L4404L	NM_201380	NP_958782	Q15149	PLEC_HUMAN			32	13382	-			4404			Globular 2.		Q15148|Q16640|Q6S376|Q6S377|Q6S378|Q6S379|Q6S380|Q6S381|Q6S382|Q6S383	Silent	SNP	ENST00000322810.4	37	c.13212G>T	CCDS43772.1																																																																																				PASS	0.672	PLEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383281.1	NM_000445		23	84	23	84	---	---	---	---
PLEC	5339	broad.mit.edu	37	8	144995483	144995483	+	Missense_Mutation	SNP	C	C	T	rs200814155	byFrequency	TCGA-66-2756-01A-01D-1522-08	TCGA-66-2756-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	472c95e6-eccb-4988-be16-fdace73b2ed8	ff4f5936-f847-42ad-aedf-6a6a7fff6002	g.chr8:144995483C>T	ENST00000322810.4	-	32	9086	c.8917G>A	c.(8917-8919)Gac>Aac	p.D2973N	PLEC_ENST00000436759.2_Missense_Mutation_p.D2863N|PLEC_ENST00000527096.1_Missense_Mutation_p.D2859N|PLEC_ENST00000354958.2_Missense_Mutation_p.D2814N|PLEC_ENST00000357649.2_Missense_Mutation_p.D2840N|PLEC_ENST00000398774.2_Missense_Mutation_p.D2804N|PLEC_ENST00000354589.3_Missense_Mutation_p.D2836N|PLEC_ENST00000356346.3_Missense_Mutation_p.D2822N|PLEC_ENST00000345136.3_Missense_Mutation_p.D2836N	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	2973	Globular 2.				apoptotic process (GO:0006915)|cell junction assembly (GO:0034329)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcoplasm (GO:0016528)	ankyrin binding (GO:0030506)|poly(A) RNA binding (GO:0044822)|structural constituent of muscle (GO:0008307)	p.D2973N(1)|p.D2836N(1)|p.D2863N(1)		NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						ATCTCCTCGTCGAAGTAGCCG	0.667													C|||	2	0.000399361	0.0008	0.0	5008	,	,		18707	0.0		0.001	False		,,,				2504	0.0					uc003zaf.1																			3	Substitution - Missense(3)		lung(3)	large_intestine(2)|ovary(2)|pancreas(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	9						c.(8917-8919)GAC>AAC		plectin isoform 1		C	ASN/ASP,ASN/ASP,ASN/ASP,ASN/ASP,ASN/ASP,ASN/ASP,ASN/ASP,ASN/ASP	3,4015		0,3,2006	63.0	70.0	68.0		8587,8464,8440,8917,8410,8506,8518,8506	3.2	1.0	8		68	20,8308		0,20,4144	no	missense,missense,missense,missense,missense,missense,missense,missense	PLEC	NM_000445.3,NM_201378.2,NM_201379.1,NM_201380.2,NM_201381.1,NM_201382.2,NM_201383.1,NM_201384.1	23,23,23,23,23,23,23,23	0,23,6150	TT,TC,CC		0.2402,0.0747,0.1863	probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging	2863/4575,2822/4534,2814/4526,2973/4685,2804/4516,2836/4548,2840/4552,2836/4548	144995483	23,12323	2009	4164	6173	SO:0001583	missense	5339				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle|structural constituent of muscle	g.chr8:144995483C>T	U53204	CCDS43769.1, CCDS43770.1, CCDS43771.1, CCDS43772.1, CCDS43773.1, CCDS43774.1, CCDS43775.1, CCDS47936.1	8q24	2010-02-04	2010-02-04	2010-02-04	ENSG00000178209	ENSG00000178209			9069	protein-coding gene	gene with protein product		601282	"""plectin 1, intermediate filament binding protein, 500kD"", ""epidermolysis bullosa simplex 1 (Ogna)"", ""plectin 1, intermediate filament binding protein 500kDa"""	EBS1, PLEC1		8633055, 8696340	Standard	XM_005250976		Approved	PCN, PLTN	uc003zaf.1	Q15149	OTTHUMG00000165291	ENST00000322810.4:c.8917G>A	8.37:g.144995483C>T	ENSP00000323856:p.Asp2973Asn					PLEC_uc003zab.1_Missense_Mutation_p.D2836N|PLEC_uc003zac.1_Missense_Mutation_p.D2840N|PLEC_uc003zad.2_Missense_Mutation_p.D2836N|PLEC_uc003zae.1_Missense_Mutation_p.D2804N|PLEC_uc003zag.1_Missense_Mutation_p.D2814N|PLEC_uc003zah.2_Missense_Mutation_p.D2822N|PLEC_uc003zaj.2_Missense_Mutation_p.D2863N	p.D2973N	NM_201380	NP_958782	Q15149	PLEC_HUMAN			32	9087	-			2973			Plectin 4.|Globular 2.		Q15148|Q16640|Q6S376|Q6S377|Q6S378|Q6S379|Q6S380|Q6S381|Q6S382|Q6S383	Missense_Mutation	SNP	ENST00000322810.4	37	c.8917G>A	CCDS43772.1	.	.	.	.	.	.	.	.	.	.	C	13.07	2.128415	0.37533	7.47E-4	0.002402	ENSG00000178209	ENST00000345136;ENST00000357649;ENST00000354589;ENST00000398774;ENST00000322810;ENST00000354958;ENST00000356346;ENST00000436759;ENST00000527096	T;T;T;T;T;T;T;T;T	0.81247	-1.47;-1.47;-1.47;-1.47;-1.47;-1.47;-1.47;-1.47;-1.47	4.95	3.16	0.36331	.	0.000000	0.64402	U	0.000004	T	0.73024	0.3534	L	0.46885	1.475	0.51767	D	0.999934	B;B;B;B;B;B;B;B	0.33826	0.295;0.427;0.427;0.343;0.427;0.427;0.295;0.295	B;B;B;B;B;B;B;B	0.32393	0.089;0.089;0.089;0.145;0.089;0.089;0.089;0.089	T	0.70568	-0.4836	10	0.52906	T	0.07	.	11.4324	0.50050	0.0:0.85:0.0:0.15	.	2863;2822;2814;2973;2804;2836;2840;2836	Q15149-2;Q15149-9;Q15149-8;Q15149;Q15149-7;Q15149-5;Q15149-6;Q15149-4	.;.;.;PLEC_HUMAN;.;.;.;.	N	2836;2840;2836;2804;2973;2814;2822;2863;2859	ENSP00000344848:D2836N;ENSP00000350277:D2840N;ENSP00000346602:D2836N;ENSP00000381756:D2804N;ENSP00000323856:D2973N;ENSP00000347044:D2814N;ENSP00000348702:D2822N;ENSP00000388180:D2863N;ENSP00000434583:D2859N	ENSP00000323856:D2973N	D	-	1	0	PLEC	145067471	0.998000	0.40836	0.995000	0.50966	0.660000	0.38997	3.898000	0.56281	0.642000	0.30620	-0.366000	0.07423	GAC		PASS	0.667	PLEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383281.1	NM_000445		15	134	15	134	---	---	---	---
SPATC1	375686	broad.mit.edu	37	8	145101592	145101592	+	Missense_Mutation	SNP	A	A	G			TCGA-66-2756-01A-01D-1522-08	TCGA-66-2756-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	472c95e6-eccb-4988-be16-fdace73b2ed8	ff4f5936-f847-42ad-aedf-6a6a7fff6002	g.chr8:145101592A>G	ENST00000377470.3	+	5	1613	c.1511A>G	c.(1510-1512)tAt>tGt	p.Y504C	CTD-3065J16.6_ENST00000561181.1_RNA|CTD-3065J16.6_ENST00000528912.1_RNA|SPATC1_ENST00000447830.2_3'UTR	NM_198572.2	NP_940974.2	Q76KD6	SPERI_HUMAN	spermatogenesis and centriole associated 1	504						centrosome (GO:0005813)|cytoplasm (GO:0005737)		p.Y504C(1)|p.Y413C(1)		NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	15	all_cancers(97;8.2e-11)|all_epithelial(106;1.1e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;6.79e-41)|Epithelial(56;1.02e-39)|all cancers(56;3.67e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			ACACAGCGCTATGTGAGCGTC	0.622																																						uc011lkw.1																			2	Substitution - Missense(2)		lung(2)	ovary(1)|central_nervous_system(1)	2						c.(1510-1512)TAT>TGT		spermatogenesis and centriole associated 1							64.0	56.0	59.0					8																	145101592		2202	4299	6501	SO:0001583	missense	375686							g.chr8:145101592A>G	BC053547	CCDS6413.2, CCDS47937.1	8q24.3	2005-01-11			ENSG00000186583	ENSG00000186583			30510	protein-coding gene	gene with protein product		610874				15280373	Standard	NM_198572		Approved	MGC61633, SPATA15, SPERIOLIN	uc011lkw.2	Q76KD6	OTTHUMG00000156976	ENST00000377470.3:c.1511A>G	8.37:g.145101592A>G	ENSP00000366690:p.Tyr504Cys					SPATC1_uc011lkx.1_3'UTR	p.Y504C	NM_198572	NP_940974	Q76KD6	SPERI_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;6.79e-41)|Epithelial(56;1.02e-39)|all cancers(56;3.67e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)		5	1613	+	all_cancers(97;8.2e-11)|all_epithelial(106;1.1e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		504					B4DWW9|Q5U5I8|Q7Z6L7	Missense_Mutation	SNP	ENST00000377470.3	37	c.1511A>G	CCDS6413.2	.	.	.	.	.	.	.	.	.	.	A	18.71	3.681371	0.68042	.	.	ENSG00000186583	ENST00000377470	T	0.53206	0.63	5.07	5.07	0.68467	.	0.000000	0.64402	D	0.000002	T	0.66665	0.2812	M	0.76328	2.33	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.70651	-0.4813	10	0.87932	D	0	-21.3748	11.2198	0.48848	1.0:0.0:0.0:0.0	.	504	Q76KD6	SPERI_HUMAN	C	504	ENSP00000366690:Y504C	ENSP00000366690:Y504C	Y	+	2	0	SPATC1	145173580	0.983000	0.35010	1.000000	0.80357	0.675000	0.39556	2.819000	0.48049	1.911000	0.55334	0.533000	0.62120	TAT		PASS	0.622	SPATC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000346926.1	NM_198572		24	96	24	96	---	---	---	---
KCNV2	169522	broad.mit.edu	37	9	2718879	2718879	+	Silent	SNP	C	C	A			TCGA-66-2756-01A-01D-1522-08	TCGA-66-2756-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	472c95e6-eccb-4988-be16-fdace73b2ed8	ff4f5936-f847-42ad-aedf-6a6a7fff6002	g.chr9:2718879C>A	ENST00000382082.3	+	1	1378	c.1140C>A	c.(1138-1140)cgC>cgA	p.R380R		NM_133497.3	NP_598004.1	Q8TDN2	KCNV2_HUMAN	potassium channel, subfamily V, member 2	380					protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)	p.R380R(1)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(5)|kidney(4)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(2)	35				GBM - Glioblastoma multiforme(50;0.0257)		GCGTCATGCGCCTCATGCGCA	0.672																																						uc003zho.1																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.(1138-1140)CGC>CGA		potassium channel, subfamily V, member 2							94.0	73.0	80.0					9																	2718879		2203	4300	6503	SO:0001819	synonymous_variant	169522					voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr9:2718879C>A	AF348983	CCDS6447.1	9p24.2	2011-07-05			ENSG00000168263	ENSG00000168263		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	19698	protein-coding gene	gene with protein product		607604				12060745, 16382104	Standard	NM_133497		Approved	Kv8.2	uc003zho.2	Q8TDN2	OTTHUMG00000019449	ENST00000382082.3:c.1140C>A	9.37:g.2718879C>A							p.R380R	NM_133497	NP_598004	Q8TDN2	KCNV2_HUMAN		GBM - Glioblastoma multiforme(50;0.0257)	1	1354	+			380			Helical; Voltage-sensor; Name=Segment S4; (Potential).		Q5T6X0	Silent	SNP	ENST00000382082.3	37	c.1140C>A	CCDS6447.1																																																																																				PASS	0.672	KCNV2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051528.1	NM_133497		28	41	28	41	---	---	---	---
FREM1	158326	broad.mit.edu	37	9	14746970	14746970	+	Missense_Mutation	SNP	A	A	G			TCGA-66-2756-01A-01D-1522-08	TCGA-66-2756-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	472c95e6-eccb-4988-be16-fdace73b2ed8	ff4f5936-f847-42ad-aedf-6a6a7fff6002	g.chr9:14746970A>G	ENST00000380880.3	-	34	6872	c.6089T>C	c.(6088-6090)cTg>cCg	p.L2030P	FREM1_ENST00000380881.4_Missense_Mutation_p.L2031P|FREM1_ENST00000422223.2_Missense_Mutation_p.L2030P|FREM1_ENST00000380894.1_Missense_Mutation_p.L566P			Q5H8C1	FREM1_HUMAN	FRAS1 related extracellular matrix 1	2030					cell communication (GO:0007154)|cell-matrix adhesion (GO:0007160)|craniofacial suture morphogenesis (GO:0097094)	basement membrane (GO:0005604)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)	p.L2031P(1)		breast(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(40)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	100				GBM - Glioblastoma multiforme(50;3.53e-06)		GCACTGATACAGCTTCTGGAT	0.493																																						uc003zlm.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|breast(2)|pancreas(1)	5						c.(6088-6090)CTG>CCG		FRAS1 related extracellular matrix 1 precursor							52.0	48.0	49.0					9																	14746970		1918	4127	6045	SO:0001583	missense	158326				cell communication|multicellular organismal development	basement membrane|integral to membrane	metal ion binding|sugar binding	g.chr9:14746970A>G	AK058190	CCDS47952.1, CCDS55293.1	9p22.3	2010-06-04	2004-12-15	2004-12-15	ENSG00000164946	ENSG00000164946			23399	protein-coding gene	gene with protein product		608944	"""chromosome 9 open reading frame 154"""	C9orf154		12838346, 15345741	Standard	NM_144966		Approved	FLJ25461, C9orf145, C9orf143, DKFZp686M16108, TILRR	uc003zlm.3	Q5H8C1	OTTHUMG00000019575	ENST00000380880.3:c.6089T>C	9.37:g.14746970A>G	ENSP00000370262:p.Leu2030Pro					FREM1_uc010mic.2_RNA|FREM1_uc003zlk.2_RNA|FREM1_uc003zll.2_Missense_Mutation_p.L566P	p.L2030P	NM_144966	NP_659403	Q5H8C1	FREM1_HUMAN		GBM - Glioblastoma multiforme(50;3.53e-06)	34	6679	-			2030					B7ZBX4|Q5VV00|Q5VV01|Q6MZI4|Q8NEG9|Q96LI3	Missense_Mutation	SNP	ENST00000380880.3	37	c.6089T>C	CCDS47952.1	.	.	.	.	.	.	.	.	.	.	A	15.84	2.950624	0.53186	.	.	ENSG00000164946	ENST00000380881;ENST00000422223;ENST00000380894;ENST00000380880	T;T;T;T	0.19938	2.11;2.11;2.11;2.11	5.76	5.76	0.90799	.	0.000000	0.64402	D	0.000001	T	0.45558	0.1348	M	0.68952	2.095	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.71414	0.973;0.963	T	0.41998	-0.9477	10	0.72032	D	0.01	-9.6052	16.0843	0.81031	1.0:0.0:0.0:0.0	.	2030;566	Q5H8C1;B7ZBX4	FREM1_HUMAN;.	P	2031;2030;566;2030	ENSP00000370263:L2031P;ENSP00000412940:L2030P;ENSP00000370278:L566P;ENSP00000370262:L2030P	ENSP00000370262:L2030P	L	-	2	0	FREM1	14736970	1.000000	0.71417	0.605000	0.28930	0.062000	0.15995	7.701000	0.84566	2.191000	0.70037	0.533000	0.62120	CTG		PASS	0.493	FREM1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000339474.2	NM_144966		6	34	6	34	---	---	---	---
FREM1	158326	broad.mit.edu	37	9	14846058	14846058	+	Silent	SNP	G	G	T			TCGA-66-2756-01A-01D-1522-08	TCGA-66-2756-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	472c95e6-eccb-4988-be16-fdace73b2ed8	ff4f5936-f847-42ad-aedf-6a6a7fff6002	g.chr9:14846058G>T	ENST00000380880.3	-	8	2076	c.1293C>A	c.(1291-1293)gcC>gcA	p.A431A	FREM1_ENST00000380881.4_Silent_p.A432A|FREM1_ENST00000422223.2_Silent_p.A431A			Q5H8C1	FREM1_HUMAN	FRAS1 related extracellular matrix 1	431					cell communication (GO:0007154)|cell-matrix adhesion (GO:0007160)|craniofacial suture morphogenesis (GO:0097094)	basement membrane (GO:0005604)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)	p.A432A(1)		breast(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(40)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	100				GBM - Glioblastoma multiforme(50;3.53e-06)		CCCAAGTGATGGCTCGAGACT	0.488																																						uc003zlm.2																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|breast(2)|pancreas(1)	5						c.(1291-1293)GCC>GCA		FRAS1 related extracellular matrix 1 precursor							52.0	57.0	56.0					9																	14846058		2061	4211	6272	SO:0001819	synonymous_variant	158326				cell communication|multicellular organismal development	basement membrane|integral to membrane	metal ion binding|sugar binding	g.chr9:14846058G>T	AK058190	CCDS47952.1, CCDS55293.1	9p22.3	2010-06-04	2004-12-15	2004-12-15	ENSG00000164946	ENSG00000164946			23399	protein-coding gene	gene with protein product		608944	"""chromosome 9 open reading frame 154"""	C9orf154		12838346, 15345741	Standard	NM_144966		Approved	FLJ25461, C9orf145, C9orf143, DKFZp686M16108, TILRR	uc003zlm.3	Q5H8C1	OTTHUMG00000019575	ENST00000380880.3:c.1293C>A	9.37:g.14846058G>T						FREM1_uc010mic.2_RNA	p.A431A	NM_144966	NP_659403	Q5H8C1	FREM1_HUMAN		GBM - Glioblastoma multiforme(50;3.53e-06)	8	1883	-			431			CSPG 2.		B7ZBX4|Q5VV00|Q5VV01|Q6MZI4|Q8NEG9|Q96LI3	Silent	SNP	ENST00000380880.3	37	c.1293C>A	CCDS47952.1																																																																																				PASS	0.488	FREM1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000339474.2	NM_144966		5	14	5	14	---	---	---	---
TEK	7010	broad.mit.edu	37	9	27213551	27213551	+	Missense_Mutation	SNP	T	T	A			TCGA-66-2756-01A-01D-1522-08	TCGA-66-2756-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	472c95e6-eccb-4988-be16-fdace73b2ed8	ff4f5936-f847-42ad-aedf-6a6a7fff6002	g.chr9:27213551T>A	ENST00000380036.4	+	18	3389	c.2947T>A	c.(2947-2949)Ttt>Att	p.F983I	TEK_ENST00000519097.1_Missense_Mutation_p.F835I|TEK_ENST00000406359.4_Missense_Mutation_p.F940I	NM_000459.3	NP_000450	Q02763	TIE2_HUMAN	TEK tyrosine kinase, endothelial	983	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cell-cell signaling (GO:0007267)|cell-matrix adhesion (GO:0007160)|definitive hemopoiesis (GO:0060216)|endochondral ossification (GO:0001958)|endothelial cell proliferation (GO:0001935)|glomerulus vasculature development (GO:0072012)|heart development (GO:0007507)|heart trabecula formation (GO:0060347)|intracellular signal transduction (GO:0035556)|leukocyte migration (GO:0050900)|negative regulation of angiogenesis (GO:0016525)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of inflammatory response (GO:0050728)|organ regeneration (GO:0031100)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of actin cytoskeleton reorganization (GO:2000251)|positive regulation of angiogenesis (GO:0045766)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of intracellular signal transduction (GO:1902533)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|protein autophosphorylation (GO:0046777)|protein oligomerization (GO:0051259)|regulation of endothelial cell apoptotic process (GO:2000351)|regulation of establishment or maintenance of cell polarity (GO:0032878)|regulation of vascular permeability (GO:0043114)|response to cAMP (GO:0051591)|response to estrogen (GO:0043627)|response to hypoxia (GO:0001666)|response to peptide hormone (GO:0043434)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|sprouting angiogenesis (GO:0002040)|substrate adhesion-dependent cell spreading (GO:0034446)|Tie signaling pathway (GO:0048014)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	apical plasma membrane (GO:0016324)|basal plasma membrane (GO:0009925)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|microvillus (GO:0005902)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein tyrosine kinase activity (GO:0004713)|receptor activity (GO:0004872)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)	p.F983I(1)		breast(3)|central_nervous_system(3)|kidney(1)|lung(2)|ovary(3)|skin(3)	15		all_neural(11;7.57e-10)|Myeloproliferative disorder(762;0.0255)		Lung(218;4.08e-05)|LUSC - Lung squamous cell carcinoma(38;0.00027)	Ponatinib(DB08901)|Regorafenib(DB08896)|Vandetanib(DB05294)	AATAGCAGATTTTGGATTGTC	0.413																																						uc003zqi.3																			1	Substitution - Missense(1)		lung(1)	ovary(3)|central_nervous_system(3)|breast(3)|lung(2)|kidney(1)	12						c.(2947-2949)TTT>ATT		TEK tyrosine kinase, endothelial precursor							127.0	127.0	127.0					9																	27213551		2203	4300	6503	SO:0001583	missense	7010				angiogenesis|blood coagulation|cell-cell signaling|leukocyte migration|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein kinase B signaling cascade|protein oligomerization|transmembrane receptor protein tyrosine kinase signaling pathway	apical plasma membrane|basolateral plasma membrane|cell surface|integral to plasma membrane|membrane raft|microvillus	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity	g.chr9:27213551T>A	L06139	CCDS6519.1, CCDS75825.1	9p21	2013-02-11	2008-07-31		ENSG00000120156	ENSG00000120156		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	11724	protein-coding gene	gene with protein product		600221	"""venous malformations, multiple cutaneous and mucosal"""	VMCM		1312667, 7833915	Standard	XM_005251561		Approved	TIE2, TIE-2, VMCM1, CD202b	uc003zqi.4	Q02763	OTTHUMG00000019712	ENST00000380036.4:c.2947T>A	9.37:g.27213551T>A	ENSP00000369375:p.Phe983Ile					TEK_uc011lno.1_Missense_Mutation_p.F940I|TEK_uc011lnp.1_Missense_Mutation_p.F835I	p.F983I	NM_000459	NP_000450	Q02763	TIE2_HUMAN		Lung(218;4.08e-05)|LUSC - Lung squamous cell carcinoma(38;0.00027)	18	3389	+		all_neural(11;7.57e-10)|Myeloproliferative disorder(762;0.0255)	983			Protein kinase.|Cytoplasmic (Potential).		A8K6W0|B4DH20|B4DHD3|D3DRK5|E7EWI2|Q5TCU2|Q8IV34	Missense_Mutation	SNP	ENST00000380036.4	37	c.2947T>A	CCDS6519.1	.	.	.	.	.	.	.	.	.	.	T	33	5.281981	0.95489	.	.	ENSG00000120156	ENST00000519097;ENST00000380036;ENST00000406359	D;D;D	0.83755	-1.76;-1.76;-1.76	5.8	5.8	0.92144	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.52532	D	0.000065	D	0.94079	0.8102	H	0.96460	3.825	0.80722	D	1	D;D;D	0.89917	0.999;1.0;0.999	D;D;D	0.97110	0.995;1.0;0.995	D	0.95789	0.8823	10	0.87932	D	0	.	16.1383	0.81506	0.0:0.0:0.0:1.0	.	835;1016;983	E7EWI2;Q59HG2;Q02763	.;.;TIE2_HUMAN	I	835;983;940	ENSP00000430686:F835I;ENSP00000369375:F983I;ENSP00000383977:F940I	ENSP00000369375:F983I	F	+	1	0	TEK	27203551	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	8.040000	0.89188	2.219000	0.72066	0.533000	0.62120	TTT		PASS	0.413	TEK-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051965.3			20	881	20	881	---	---	---	---
C9orf131	138724	broad.mit.edu	37	9	35043619	35043619	+	Missense_Mutation	SNP	G	G	C			TCGA-66-2756-01A-01D-1522-08	TCGA-66-2756-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	472c95e6-eccb-4988-be16-fdace73b2ed8	ff4f5936-f847-42ad-aedf-6a6a7fff6002	g.chr9:35043619G>C	ENST00000312292.5	+	2	1040	c.993G>C	c.(991-993)aaG>aaC	p.K331N	FLJ00273_ENST00000595331.1_5'Flank|C9orf131_ENST00000421362.2_Missense_Mutation_p.K283N|C9orf131_ENST00000354479.5_Missense_Mutation_p.K258N	NM_001040410.1|NM_203299.2	NP_001035500.1|NP_976044.2	Q5VYM1	CI131_HUMAN	chromosome 9 open reading frame 131	331								p.K331N(1)		cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(23)|prostate(2)|skin(2)|stomach(1)	39	all_epithelial(49;0.22)		LUSC - Lung squamous cell carcinoma(32;0.00117)|Lung(28;0.00309)			GACACAAAAAGATGCCCCAAG	0.527																																						uc003zvw.2																			1	Substitution - Missense(1)		lung(1)		0						c.(991-993)AAG>AAC		hypothetical protein LOC138724 isoform A							167.0	190.0	182.0					9																	35043619		2203	4300	6503	SO:0001583	missense	138724							g.chr9:35043619G>C	BC045643	CCDS6572.2, CCDS47961.1, CCDS47962.1	9p13.3	2008-02-05			ENSG00000174038	ENSG00000174038			31418	protein-coding gene	gene with protein product							Standard	NM_001287391		Approved	MGC41945	uc003zvw.3	Q5VYM1	OTTHUMG00000019853	ENST00000312292.5:c.993G>C	9.37:g.35043619G>C	ENSP00000308279:p.Lys331Asn					C9orf131_uc003zvu.2_Missense_Mutation_p.K283N|C9orf131_uc003zvv.2_Missense_Mutation_p.K258N|C9orf131_uc003zvx.2_Missense_Mutation_p.K296N	p.K331N	NM_203299	NP_976044	Q5VYM1	CI131_HUMAN	LUSC - Lung squamous cell carcinoma(32;0.00117)|Lung(28;0.00309)		2	1022	+	all_epithelial(49;0.22)		331					A6NLE6|E9PB26|Q86XC6|Q9UF74	Missense_Mutation	SNP	ENST00000312292.5	37	c.993G>C	CCDS6572.2	.	.	.	.	.	.	.	.	.	.	G	7.072	0.568535	0.13560	.	.	ENSG00000174038	ENST00000421362;ENST00000354479;ENST00000312292	T;T;T	0.14516	2.5;2.5;2.5	4.76	-2.35	0.06684	.	1.287110	0.05368	N	0.534843	T	0.08492	0.0211	L	0.29908	0.895	0.09310	N	1	B;B;B	0.32160	0.358;0.358;0.358	B;B;B	0.28139	0.086;0.058;0.086	T	0.36261	-0.9755	10	0.20046	T	0.44	0.3802	5.8678	0.18786	0.251:0.3934:0.3557:0.0	.	331;258;283	Q5VYM1;A6NLE6;E9PB26	CI131_HUMAN;.;.	N	283;258;331	ENSP00000393683:K283N;ENSP00000346472:K258N;ENSP00000308279:K331N	ENSP00000308279:K331N	K	+	3	2	C9orf131	35033619	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.540000	0.06106	-0.344000	0.08338	-0.140000	0.14226	AAG		PASS	0.527	C9orf131-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000052283.5	NM_203299		91	730	91	730	---	---	---	---
OR13J1	392309	broad.mit.edu	37	9	35870133	35870133	+	Missense_Mutation	SNP	C	C	T	rs140653664	byFrequency	TCGA-66-2756-01A-01D-1522-08	TCGA-66-2756-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	472c95e6-eccb-4988-be16-fdace73b2ed8	ff4f5936-f847-42ad-aedf-6a6a7fff6002	g.chr9:35870133C>T	ENST00000377981.2	-	1	328	c.266G>A	c.(265-267)cGg>cAg	p.R89Q		NM_001004487.1	NP_001004487.1	Q8NGT2	O13J1_HUMAN	olfactory receptor, family 13, subfamily J, member 1	89						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.R89Q(1)		central_nervous_system(1)|large_intestine(1)|lung(3)|skin(1)	6	all_epithelial(49;0.169)		LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00494)|STAD - Stomach adenocarcinoma(86;0.194)			GATGGTCTTCCGGGATGACAG	0.597													C|||	3	0.000599042	0.0015	0.0	5008	,	,		23135	0.0		0.0	False		,,,				2504	0.001					uc011lph.1																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1						c.(265-267)CGG>CAG		olfactory receptor, family 13, subfamily J,		C	GLN/ARG	3,4403	6.2+/-15.9	0,3,2200	119.0	114.0	116.0		266	-3.8	0.0	9	dbSNP_134	116	6,8594	5.0+/-18.6	0,6,4294	yes	missense	OR13J1	NM_001004487.1	43	0,9,6494	TT,TC,CC		0.0698,0.0681,0.0692	benign	89/313	35870133	9,12997	2203	4300	6503	SO:0001583	missense	392309				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr9:35870133C>T		CCDS35011.1	9p13.3	2013-09-24			ENSG00000168828	ENSG00000168828		"""GPCR / Class A : Olfactory receptors"""	15108	protein-coding gene	gene with protein product							Standard	NM_001004487		Approved		uc011lph.2	Q8NGT2	OTTHUMG00000019879	ENST00000377981.2:c.266G>A	9.37:g.35870133C>T	ENSP00000367219:p.Arg89Gln						p.R89Q	NM_001004487	NP_001004487	Q8NGT2	O13J1_HUMAN	LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00494)|STAD - Stomach adenocarcinoma(86;0.194)		1	266	-	all_epithelial(49;0.169)		89			Extracellular (Potential).		B2RN66|Q6IF20|Q96R40	Missense_Mutation	SNP	ENST00000377981.2	37	c.266G>A	CCDS35011.1	.	.	.	.	.	.	.	.	.	.	C	10.02	1.236900	0.22711	6.81E-4	6.98E-4	ENSG00000168828	ENST00000377981	T	0.01335	5.0	4.68	-3.78	0.04333	GPCR, rhodopsin-like superfamily (1);	0.707453	0.12461	N	0.466925	T	0.01156	0.0038	N	0.25789	0.76	0.09310	N	1	B	0.20671	0.047	B	0.09377	0.004	T	0.43893	-0.9363	10	0.19147	T	0.46	.	12.8954	0.58095	0.0:0.2149:0.0:0.7851	.	89	Q8NGT2	O13J1_HUMAN	Q	89	ENSP00000367219:R89Q	ENSP00000367219:R89Q	R	-	2	0	OR13J1	35860133	0.000000	0.05858	0.003000	0.11579	0.963000	0.63663	-1.751000	0.01821	-0.733000	0.04850	-0.142000	0.14014	CGG		PASS	0.597	OR13J1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052381.1			25	51	25	51	---	---	---	---
GRHPR	9380	broad.mit.edu	37	9	37436733	37436733	+	Missense_Mutation	SNP	T	T	A			TCGA-66-2756-01A-01D-1522-08	TCGA-66-2756-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	472c95e6-eccb-4988-be16-fdace73b2ed8	ff4f5936-f847-42ad-aedf-6a6a7fff6002	g.chr9:37436733T>A	ENST00000318158.6	+	9	1026	c.941T>A	c.(940-942)cTg>cAg	p.L314Q		NM_012203.1	NP_036335.1	Q9UBQ7	GRHPR_HUMAN	glyoxylate reductase/hydroxypyruvate reductase	314					cellular nitrogen compound metabolic process (GO:0034641)|dicarboxylic acid metabolic process (GO:0043648)|excretion (GO:0007588)|glyoxylate metabolic process (GO:0046487)|metabolic process (GO:0008152)|oxidation-reduction process (GO:0055114)|protein oligomerization (GO:0051259)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|peroxisomal matrix (GO:0005782)	carboxylic acid binding (GO:0031406)|glycerate dehydrogenase activity (GO:0008465)|glyoxylate reductase (NADP) activity (GO:0030267)|hydroxypyruvate reductase activity (GO:0016618)|NAD binding (GO:0051287)|NADPH binding (GO:0070402)|protein homodimerization activity (GO:0042803)	p.L314Q(1)		endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	12				GBM - Glioblastoma multiforme(29;0.00687)		AACAACTTGCTGGCTGGCCTG	0.557																																						uc003zzu.1																			1	Substitution - Missense(1)		lung(1)		0						c.(940-942)CTG>CAG		glyoxylate reductase/hydroxypyruvate reductase							179.0	170.0	173.0					9																	37436733		2203	4300	6503	SO:0001583	missense	9380				cellular nitrogen compound metabolic process|excretion|glyoxylate metabolic process	peroxisomal matrix	glycerate dehydrogenase activity|glyoxylate reductase (NADP) activity|hydroxypyruvate reductase activity|NAD binding|protein binding	g.chr9:37436733T>A	AF134895	CCDS6609.1	9q12	2012-07-13			ENSG00000137106	ENSG00000137106	1.1.1.79, 1.1.1.81		4570	protein-coding gene	gene with protein product	"""primary hyperoxaluria type 2"""	604296		GLXR		10524214, 10484776	Standard	XM_005251631		Approved	PH2	uc003zzu.1	Q9UBQ7	OTTHUMG00000019914	ENST00000318158.6:c.941T>A	9.37:g.37436733T>A	ENSP00000313432:p.Leu314Gln					GRHPR_uc003zzt.1_Missense_Mutation_p.L234Q|GRHPR_uc003zzw.1_Missense_Mutation_p.L171Q	p.L314Q	NM_012203	NP_036335	Q9UBQ7	GRHPR_HUMAN		GBM - Glioblastoma multiforme(29;0.00687)	9	982	+			314					Q5T945|Q9H3E9|Q9H636|Q9UKX1	Missense_Mutation	SNP	ENST00000318158.6	37	c.941T>A	CCDS6609.1	.	.	.	.	.	.	.	.	.	.	T	28.3	4.910650	0.92107	.	.	ENSG00000137106	ENST00000318158	D	0.84660	-1.88	5.76	5.76	0.90799	D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain (1);	.	.	.	.	D	0.91399	0.7286	M	0.66506	2.035	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.997	D	0.91348	0.5102	9	0.49607	T	0.09	.	16.3695	0.83350	0.0:0.0:0.0:1.0	.	327;314	Q5M7Z5;Q9UBQ7	.;GRHPR_HUMAN	Q	314	ENSP00000313432:L314Q	ENSP00000313432:L314Q	L	+	2	0	GRHPR	37426733	1.000000	0.71417	1.000000	0.80357	0.918000	0.54935	7.873000	0.87193	2.315000	0.78130	0.533000	0.62120	CTG		PASS	0.557	GRHPR-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052442.1	NM_012203		64	134	64	134	---	---	---	---
TMC1	117531	broad.mit.edu	37	9	75407227	75407227	+	Missense_Mutation	SNP	G	G	A			TCGA-66-2756-01A-01D-1522-08	TCGA-66-2756-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	472c95e6-eccb-4988-be16-fdace73b2ed8	ff4f5936-f847-42ad-aedf-6a6a7fff6002	g.chr9:75407227G>A	ENST00000297784.5	+	17	2065	c.1525G>A	c.(1525-1527)Gat>Aat	p.D509N	TMC1_ENST00000340019.3_Missense_Mutation_p.D509N|TMC1_ENST00000486417.1_3'UTR|TMC1_ENST00000396237.3_Missense_Mutation_p.D509N	NM_138691.2	NP_619636.2	Q8TDI8	TMC1_HUMAN	transmembrane channel-like 1	509					auditory receptor cell development (GO:0060117)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|vestibular reflex (GO:0060005)	external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|stereocilium bundle tip (GO:0032426)	voltage-gated calcium channel activity (GO:0005245)	p.D509N(1)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(21)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	36						TCACCCTGCAGATGTACCTCG	0.428																																					Pancreas(75;173 1345 14232 34245 43413)	uc004aiz.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1525-1527)GAT>AAT		transmembrane channel-like 1							248.0	230.0	236.0					9																	75407227		2203	4300	6503	SO:0001583	missense	117531				sensory perception of sound	integral to membrane		g.chr9:75407227G>A	AF417578	CCDS6643.1	9q21	2014-01-28			ENSG00000165091	ENSG00000165091			16513	protein-coding gene	gene with protein product		606706	"""transmembrane, cochlear expressed, 1"""	DFNA36, DFNB7, DFNB11		11850618, 11850623	Standard	NM_138691		Approved		uc004aiz.1	Q8TDI8	OTTHUMG00000020014	ENST00000297784.5:c.1525G>A	9.37:g.75407227G>A	ENSP00000297784:p.Asp509Asn					TMC1_uc010moz.1_Missense_Mutation_p.D467N|TMC1_uc004aja.1_RNA|TMC1_uc004ajb.1_RNA|TMC1_uc004ajc.1_Missense_Mutation_p.D363N|TMC1_uc010mpa.1_Missense_Mutation_p.D363N	p.D509N	NM_138691	NP_619636	Q8TDI8	TMC1_HUMAN			17	2065	+			509			Cytoplasmic (Potential).		A8MVZ2|B1AM91	Missense_Mutation	SNP	ENST00000297784.5	37	c.1525G>A	CCDS6643.1	.	.	.	.	.	.	.	.	.	.	G	34	5.355344	0.95854	.	.	ENSG00000165091	ENST00000297784;ENST00000340019;ENST00000396235;ENST00000537917;ENST00000538054;ENST00000542143;ENST00000396237	T;T;T	0.68765	-0.35;-0.35;-0.35	5.8	5.8	0.92144	.	0.000000	0.85682	D	0.000000	T	0.82245	0.4995	M	0.73962	2.25	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	0.79140	-0.1926	10	0.33940	T	0.23	-32.7663	20.051	0.97627	0.0:0.0:1.0:0.0	.	476;476;509	A5D8Y1;A4FUA6;Q8TDI8	.;.;TMC1_HUMAN	N	509;509;476;476;476;503;509	ENSP00000297784:D509N;ENSP00000341433:D509N;ENSP00000379538:D509N	ENSP00000297784:D509N	D	+	1	0	TMC1	74597047	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.737000	0.98831	2.740000	0.93945	0.650000	0.86243	GAT		PASS	0.428	TMC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052655.1			95	198	95	198	---	---	---	---
HEMGN	55363	broad.mit.edu	37	9	100693291	100693291	+	Missense_Mutation	SNP	G	G	C			TCGA-66-2756-01A-01D-1522-08	TCGA-66-2756-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	472c95e6-eccb-4988-be16-fdace73b2ed8	ff4f5936-f847-42ad-aedf-6a6a7fff6002	g.chr9:100693291G>C	ENST00000259456.3	-	4	529	c.386C>G	c.(385-387)cCt>cGt	p.P129R		NM_018437.3|NM_197978.2	NP_060907.2|NP_932095.1	Q9BXL5	HEMGN_HUMAN	hemogen	129					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)	nucleus (GO:0005634)		p.P129R(1)		NS(1)|kidney(2)|large_intestine(5)|lung(15)|ovary(1)|skin(2)|urinary_tract(1)	27		Acute lymphoblastic leukemia(62;0.0559)				GTGTTCCTCAGGCACAACTTT	0.393																																						uc004axy.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(385-387)CCT>CGT		hemogen							109.0	101.0	104.0					9																	100693291		2203	4300	6503	SO:0001583	missense	55363				cell differentiation|multicellular organismal development			g.chr9:100693291G>C	AF228713	CCDS6731.1	9q22.33	2014-01-21			ENSG00000136929	ENSG00000136929			17509	protein-coding gene	gene with protein product		610715					Standard	NM_018437		Approved	EDAG, CT155, NDR	uc004axy.4	Q9BXL5	OTTHUMG00000020336	ENST00000259456.3:c.386C>G	9.37:g.100693291G>C	ENSP00000259456:p.Pro129Arg					HEMGN_uc004axz.2_Missense_Mutation_p.P129R	p.P129R	NM_197978	NP_932095	Q9BXL5	HEMGN_HUMAN			3	494	-		Acute lymphoblastic leukemia(62;0.0559)	129					Q6XAR3|Q86XY5|Q9NPC0	Missense_Mutation	SNP	ENST00000259456.3	37	c.386C>G	CCDS6731.1	.	.	.	.	.	.	.	.	.	.	G	15.28	2.785903	0.49997	.	.	ENSG00000136929	ENST00000375112;ENST00000259456	.	.	.	4.63	3.73	0.42828	.	0.349486	0.29876	N	0.010977	T	0.55784	0.1942	M	0.63843	1.955	0.09310	N	1	D	0.67145	0.996	D	0.65573	0.936	T	0.46541	-0.9184	9	0.87932	D	0	-0.6467	9.0064	0.36115	0.1013:0.0:0.8987:0.0	.	129	Q9BXL5	HEMGN_HUMAN	R	129	.	ENSP00000259456:P129R	P	-	2	0	HEMGN	99733112	.	.	0.018000	0.16275	0.216000	0.24613	.	.	1.329000	0.45376	0.591000	0.81541	CCT		PASS	0.393	HEMGN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053344.2	NM_197978		59	165	59	165	---	---	---	---
SMC2	10592	broad.mit.edu	37	9	106889588	106889588	+	Missense_Mutation	SNP	G	G	A			TCGA-66-2756-01A-01D-1522-08	TCGA-66-2756-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	472c95e6-eccb-4988-be16-fdace73b2ed8	ff4f5936-f847-42ad-aedf-6a6a7fff6002	g.chr9:106889588G>A	ENST00000286398.7	+	20	2905	c.2617G>A	c.(2617-2619)Gaa>Aaa	p.E873K	SMC2_ENST00000374787.3_Missense_Mutation_p.E873K|SMC2_ENST00000303219.8_Missense_Mutation_p.E873K|SMC2_ENST00000374793.3_Missense_Mutation_p.E873K	NM_001042551.1|NM_001265602.1|NM_006444.2	NP_001036016.1|NP_001252531.1|NP_006435.2	O95347	SMC2_HUMAN	structural maintenance of chromosomes 2	873					kinetochore organization (GO:0051383)|meiotic chromosome condensation (GO:0010032)|meiotic chromosome segregation (GO:0045132)|mitotic cell cycle (GO:0000278)|mitotic chromosome condensation (GO:0007076)	condensed chromosome (GO:0000793)|condensin complex (GO:0000796)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nuclear chromosome (GO:0000228)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein heterodimerization activity (GO:0046982)	p.E873K(2)		breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(14)|ovary(5)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	48						TAAAGCTCAAGAAGAGGTGAC	0.318																																						uc004bbv.2																			2	Substitution - Missense(2)		lung(2)	ovary(4)|skin(2)|haematopoietic_and_lymphoid_tissue(1)|lung(1)|breast(1)	9						c.(2617-2619)GAA>AAA		structural maintenance of chromosomes 2							105.0	103.0	104.0					9																	106889588		2203	4300	6503	SO:0001583	missense	10592				cell division|mitotic chromosome condensation|symbiosis, encompassing mutualism through parasitism	condensin complex|cytoplasm|nuclear chromosome	ATP binding|protein heterodimerization activity	g.chr9:106889588G>A	AF092563	CCDS35086.1	9q31.1	2008-05-14	2006-07-06	2006-07-06	ENSG00000136824	ENSG00000136824		"""Structural maintenance of chromosomes proteins"""	14011	protein-coding gene	gene with protein product		605576	"""SMC2 (structural maintenance of chromosomes 2, yeast)-like 1"", ""SMC2 structural maintenance of chromosomes 2-like 1 (yeast)"""	SMC2L1		9789013	Standard	NM_006444		Approved	hCAP-E, CAP-E	uc011lvl.2	O95347	OTTHUMG00000020401	ENST00000286398.7:c.2617G>A	9.37:g.106889588G>A	ENSP00000286398:p.Glu873Lys					SMC2_uc004bbw.2_Missense_Mutation_p.E873K|SMC2_uc011lvl.1_Missense_Mutation_p.E873K|SMC2_uc004bbx.2_Missense_Mutation_p.E873K|SMC2_uc004bby.2_RNA	p.E873K	NM_001042551	NP_001036016	O95347	SMC2_HUMAN			20	2905	+			873			Potential.		Q6IEE0|Q9P1P2	Missense_Mutation	SNP	ENST00000286398.7	37	c.2617G>A	CCDS35086.1	.	.	.	.	.	.	.	.	.	.	G	13.96	2.393414	0.42410	.	.	ENSG00000136824	ENST00000286398;ENST00000374793;ENST00000303219;ENST00000374787	T;T;T;T	0.77877	-0.23;-0.23;-1.13;-0.23	6.05	5.14	0.70334	RecF/RecN/SMC (1);	0.187603	0.56097	D	0.000034	T	0.63803	0.2542	L	0.31845	0.965	0.37914	D	0.931475	B	0.06786	0.001	B	0.10450	0.005	T	0.58250	-0.7669	10	0.06365	T	0.9	-7.3985	11.5442	0.50683	0.1467:0.0:0.8533:0.0	.	873	O95347	SMC2_HUMAN	K	873	ENSP00000286398:E873K;ENSP00000363925:E873K;ENSP00000306152:E873K;ENSP00000363919:E873K	ENSP00000286398:E873K	E	+	1	0	SMC2	105929409	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	3.791000	0.55469	1.538000	0.49270	0.650000	0.86243	GAA		PASS	0.318	SMC2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053470.1			24	78	24	78	---	---	---	---
OR13F1	138805	broad.mit.edu	37	9	107267220	107267220	+	Missense_Mutation	SNP	T	T	A			TCGA-66-2756-01A-01D-1522-08	TCGA-66-2756-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	472c95e6-eccb-4988-be16-fdace73b2ed8	ff4f5936-f847-42ad-aedf-6a6a7fff6002	g.chr9:107267220T>A	ENST00000334726.2	+	1	766	c.677T>A	c.(676-678)cTg>cAg	p.L226Q		NM_001004485.1	NP_001004485.1	Q8NGS4	O13F1_HUMAN	olfactory receptor, family 13, subfamily F, member 1	226						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.L226Q(1)		endometrium(3)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	31						GCCAGTATCCTGAGAATCAGC	0.478																																						uc011lvm.1																			1	Substitution - Missense(1)		lung(1)	large_intestine(1)|ovary(1)|skin(1)	3						c.(676-678)CTG>CAG		olfactory receptor, family 13, subfamily F,							228.0	206.0	214.0					9																	107267220		2203	4300	6503	SO:0001583	missense	138805				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr9:107267220T>A		CCDS35087.1	9q31.1	2013-09-24			ENSG00000186881	ENSG00000186881		"""GPCR / Class A : Olfactory receptors"""	14723	protein-coding gene	gene with protein product							Standard	NM_001004485		Approved		uc011lvm.2	Q8NGS4	OTTHUMG00000020404	ENST00000334726.2:c.677T>A	9.37:g.107267220T>A	ENSP00000334452:p.Leu226Gln						p.L226Q	NM_001004485	NP_001004485	Q8NGS4	O13F1_HUMAN			1	677	+			226			Cytoplasmic (Potential).		Q6IF50	Missense_Mutation	SNP	ENST00000334726.2	37	c.677T>A	CCDS35087.1	.	.	.	.	.	.	.	.	.	.	T	9.253	1.041122	0.19669	.	.	ENSG00000186881	ENST00000334726	T	0.00316	8.13	4.3	1.88	0.25563	GPCR, rhodopsin-like superfamily (1);	0.000000	0.39834	N	0.001245	T	0.00580	0.0019	H	0.95950	3.745	0.09310	N	1	P	0.50272	0.933	P	0.50162	0.633	T	0.29549	-1.0008	10	0.87932	D	0	.	8.3244	0.32147	0.3137:0.0:0.0:0.6863	.	226	Q8NGS4	O13F1_HUMAN	Q	226	ENSP00000334452:L226Q	ENSP00000334452:L226Q	L	+	2	0	OR13F1	106307041	0.000000	0.05858	0.992000	0.48379	0.353000	0.29299	0.677000	0.25262	0.402000	0.25451	-0.259000	0.10710	CTG		PASS	0.478	OR13F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053475.1			71	220	71	220	---	---	---	---
CTNNAL1	8727	broad.mit.edu	37	9	111732694	111732694	+	Silent	SNP	C	C	A			TCGA-66-2756-01A-01D-1522-08	TCGA-66-2756-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	472c95e6-eccb-4988-be16-fdace73b2ed8	ff4f5936-f847-42ad-aedf-6a6a7fff6002	g.chr9:111732694C>A	ENST00000325551.4	-	10	1514	c.1428G>T	c.(1426-1428)gtG>gtT	p.V476V	CTNNAL1_ENST00000488130.1_5'Flank|CTNNAL1_ENST00000374595.4_Silent_p.V476V|CTNNAL1_ENST00000325580.6_Intron	NM_003798.2	NP_003789.1	Q9UBT7	CTNL1_HUMAN	catenin (cadherin-associated protein), alpha-like 1	476					cell adhesion (GO:0007155)|Rho protein signal transduction (GO:0007266)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	structural molecule activity (GO:0005198)	p.V476V(1)		cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(5)|ovary(1)|prostate(4)|urinary_tract(2)	25				STAD - Stomach adenocarcinoma(157;0.0768)		GTTGGCCAGTCACCTGAAATG	0.403																																						uc004bdo.1																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(1426-1428)GTG>GTT		catenin, alpha-like 1							175.0	132.0	147.0					9																	111732694		2203	4300	6503	SO:0001819	synonymous_variant	8727				cell adhesion|Rho protein signal transduction	actin cytoskeleton|cytosol|plasma membrane	cadherin binding|structural molecule activity	g.chr9:111732694C>A	AF030233	CCDS6775.1, CCDS69638.1	9q31.2	2008-07-21			ENSG00000119326	ENSG00000119326			2512	protein-coding gene	gene with protein product	"""alpha-catulin"", ""alpha2-catulin"""	604785				9806841	Standard	XM_005252291		Approved	CLLP, alpha-CATU	uc004bdo.1	Q9UBT7	OTTHUMG00000020466	ENST00000325551.4:c.1428G>T	9.37:g.111732694C>A						CTNNAL1_uc010mts.1_Intron|CTNNAL1_uc010mtt.1_Silent_p.V476V|CTNNAL1_uc004bdp.1_Silent_p.V476V|CTNNAL1_uc004bdq.1_5'UTR	p.V476V	NM_003798	NP_003789	Q9UBT7	CTNL1_HUMAN		STAD - Stomach adenocarcinoma(157;0.0768)	10	1470	-			476					B5BU47|O76084|Q53FQ2|Q5JTQ7|Q5JTQ8|Q9Y401	Silent	SNP	ENST00000325551.4	37	c.1428G>T	CCDS6775.1																																																																																				PASS	0.403	CTNNAL1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000053577.1	NM_003798		16	35	16	35	---	---	---	---
AKNA	80709	broad.mit.edu	37	9	117120444	117120444	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2756-01A-01D-1522-08	TCGA-66-2756-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	472c95e6-eccb-4988-be16-fdace73b2ed8	ff4f5936-f847-42ad-aedf-6a6a7fff6002	g.chr9:117120444C>A	ENST00000307564.4	-	12	2657	c.2496G>T	c.(2494-2496)gaG>gaT	p.E832D	AKNA_ENST00000223791.3_Missense_Mutation_p.E292D|AKNA_ENST00000374088.3_Missense_Mutation_p.E832D|AKNA_ENST00000374075.5_Missense_Mutation_p.E751D	NM_030767.4	NP_110394.3	Q7Z591	AKNA_HUMAN	AT-hook transcription factor	832					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	membrane (GO:0016020)|nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)	p.E832D(1)		breast(3)|central_nervous_system(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(7)|liver(2)|lung(22)|ovary(4)|stomach(2)	51						TCTCCGTGGCCTCCCTGGCAT	0.622																																						uc004biq.3																			1	Substitution - Missense(1)		lung(1)	ovary(4)|central_nervous_system(2)	6						c.(2494-2496)GAG>GAT		AT-hook transcription factor							67.0	56.0	60.0					9																	117120444		2203	4300	6503	SO:0001583	missense	80709				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	g.chr9:117120444C>A	AK024431	CCDS6805.1	9q32	2008-02-05			ENSG00000106948	ENSG00000106948			24108	protein-coding gene	gene with protein product		605729				11268217, 11853319	Standard	NM_030767		Approved	KIAA1968	uc004bis.3	Q7Z591	OTTHUMG00000020538	ENST00000307564.4:c.2496G>T	9.37:g.117120444C>A	ENSP00000303769:p.Glu832Asp					AKNA_uc004bin.3_Missense_Mutation_p.E79D|AKNA_uc004bio.3_Missense_Mutation_p.E292D|AKNA_uc004bip.3_Missense_Mutation_p.E751D|AKNA_uc004bir.3_Missense_Mutation_p.E832D|AKNA_uc004bis.3_Missense_Mutation_p.E832D|AKNA_uc010mve.2_Missense_Mutation_p.E713D	p.E832D	NM_030767	NP_110394	Q7Z591	AKNA_HUMAN			11	2631	-			832					Q05BK5|Q5T535|Q5T536|Q5T537|Q64FX6|Q64FX7|Q64FX8|Q64FY2|Q6ZMK0|Q6ZNL2|Q6ZTX0|Q8TET1|Q8TF33|Q96RR9|Q9H7P7	Missense_Mutation	SNP	ENST00000307564.4	37	c.2496G>T	CCDS6805.1	.	.	.	.	.	.	.	.	.	.	C	14.09	2.431406	0.43122	.	.	ENSG00000106948	ENST00000307564;ENST00000374088;ENST00000223791;ENST00000374075	T;T;T;T	0.28895	1.85;1.85;1.59;1.84	3.88	-1.84	0.07809	.	0.121250	0.37304	N	0.002153	T	0.15003	0.0362	N	0.24115	0.695	0.35003	D	0.756175	B;B	0.20052	0.024;0.041	B;B	0.20184	0.012;0.028	T	0.03863	-1.0997	10	0.41790	T	0.15	-8.7203	4.1225	0.10112	0.1524:0.3052:0.4477:0.0948	.	832;751	Q7Z591;Q7Z591-2	AKNA_HUMAN;.	D	832;832;292;751	ENSP00000303769:E832D;ENSP00000363201:E832D;ENSP00000223791:E292D;ENSP00000363188:E751D	ENSP00000223791:E292D	E	-	3	2	AKNA	116160265	0.205000	0.23458	0.028000	0.17463	0.105000	0.19272	0.221000	0.17680	-0.327000	0.08551	0.442000	0.29010	GAG		PASS	0.622	AKNA-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053767.2	NM_030767		18	41	18	41	---	---	---	---
OR1J4	26219	broad.mit.edu	37	9	125281568	125281568	+	Missense_Mutation	SNP	G	G	T	rs146642294		TCGA-66-2756-01A-01D-1522-08	TCGA-66-2756-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	472c95e6-eccb-4988-be16-fdace73b2ed8	ff4f5936-f847-42ad-aedf-6a6a7fff6002	g.chr9:125281568G>T	ENST00000340750.1	+	1	149	c.149G>T	c.(148-150)cGg>cTg	p.R50L		NM_001004452.1	NP_001004452.1	Q8NGS1	OR1J4_HUMAN	olfactory receptor, family 1, subfamily J, member 4	50						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.R50L(1)		large_intestine(5)|lung(11)|skin(3)|upper_aerodigestive_tract(1)	20						CTGCTCATCCGGCTGGACTCT	0.537																																						uc011lyw.1																			1	Substitution - Missense(1)		lung(1)		0						c.(148-150)CGG>CTG		olfactory receptor, family 1, subfamily J,							295.0	238.0	257.0					9																	125281568		2203	4300	6503	SO:0001583	missense	26219				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr9:125281568G>T	X64979	CCDS35122.1	9q33.2	2013-09-20			ENSG00000239590	ENSG00000239590		"""GPCR / Class A : Olfactory receptors"""	8211	protein-coding gene	gene with protein product						1370859	Standard	NM_001004452		Approved	HTPCRX01, HSHTPCRX01	uc011lyw.2	Q8NGS1	OTTHUMG00000020606	ENST00000340750.1:c.149G>T	9.37:g.125281568G>T	ENSP00000343521:p.Arg50Leu						p.R50L	NM_001004452	NP_001004452	Q8NGS1	OR1J4_HUMAN			1	149	+			50			Cytoplasmic (Potential).		A3KFM0|Q6IEZ3|Q96R89	Missense_Mutation	SNP	ENST00000340750.1	37	c.149G>T	CCDS35122.1	.	.	.	.	.	.	.	.	.	.	G	14.44	2.535392	0.45176	.	.	ENSG00000197233;ENSG00000239590	ENST00000444856;ENST00000340750	T	0.01981	4.52	5.42	1.4	0.22301	GPCR, rhodopsin-like superfamily (1);	0.265241	0.20003	U	0.101284	T	0.03220	0.0094	L	0.33189	0.99	0.09310	N	0.999992	P	0.47302	0.893	P	0.53266	0.722	T	0.46062	-0.9218	10	0.23302	T	0.38	.	6.0455	0.19758	0.2201:0.2391:0.5408:0.0	.	50	Q8NGS1	OR1J4_HUMAN	L	216;50	ENSP00000343521:R50L	ENSP00000407987:R216L	R	+	2	0	OR1J2;OR1J4	124321389	0.000000	0.05858	0.990000	0.47175	0.860000	0.49131	-0.216000	0.09266	0.438000	0.26450	-0.157000	0.13467	CGG		PASS	0.537	OR1J4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053936.1			122	237	122	237	---	---	---	---
OR1L8	138881	broad.mit.edu	37	9	125330162	125330162	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2756-01A-01D-1522-08	TCGA-66-2756-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	472c95e6-eccb-4988-be16-fdace73b2ed8	ff4f5936-f847-42ad-aedf-6a6a7fff6002	g.chr9:125330162C>A	ENST00000304865.2	-	1	676	c.595G>T	c.(595-597)Gtg>Ttg	p.V199L		NM_001004454.1	NP_001004454.1	Q8NGR8	OR1L8_HUMAN	olfactory receptor, family 1, subfamily L, member 8	199						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.V199L(2)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20						GTCATCTGCACAATTTCATTG	0.428																																						uc004bmp.1																			2	Substitution - Missense(2)		lung(2)	ovary(2)|central_nervous_system(1)	3						c.(595-597)GTG>TTG		olfactory receptor, family 1, subfamily L,							88.0	77.0	81.0					9																	125330162		2203	4300	6503	SO:0001583	missense	138881				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr9:125330162C>A		CCDS35124.1	9q33.2	2013-09-20			ENSG00000171496	ENSG00000171496		"""GPCR / Class A : Olfactory receptors"""	15110	protein-coding gene	gene with protein product							Standard	NM_001004454		Approved		uc004bmp.1	Q8NGR8	OTTHUMG00000020609	ENST00000304865.2:c.595G>T	9.37:g.125330162C>A	ENSP00000306607:p.Val199Leu						p.V199L	NM_001004454	NP_001004454	Q8NGR8	OR1L8_HUMAN			1	595	-			199			Helical; Name=5; (Potential).		A3KFM3|B9EIR6|Q6IF15|Q96R79	Missense_Mutation	SNP	ENST00000304865.2	37	c.595G>T	CCDS35124.1	.	.	.	.	.	.	.	.	.	.	C	3.619	-0.077892	0.07184	.	.	ENSG00000171496	ENST00000304865	T	0.35789	1.29	4.49	1.53	0.23141	GPCR, rhodopsin-like superfamily (1);	0.560799	0.14566	N	0.311746	T	0.20700	0.0498	L	0.31845	0.965	0.09310	N	1	B	0.11235	0.004	B	0.15870	0.014	T	0.15435	-1.0437	10	0.26408	T	0.33	-0.1547	1.2815	0.02042	0.1801:0.45:0.1744:0.1955	.	199	Q8NGR8	OR1L8_HUMAN	L	199	ENSP00000306607:V199L	ENSP00000306607:V199L	V	-	1	0	OR1L8	124369983	0.000000	0.05858	0.002000	0.10522	0.518000	0.34316	-1.130000	0.03241	0.623000	0.30267	0.449000	0.29647	GTG		PASS	0.428	OR1L8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053939.1			18	22	18	22	---	---	---	---
DENND1A	57706	broad.mit.edu	37	9	126392755	126392755	+	Splice_Site	SNP	G	G	A			TCGA-66-2756-01A-01D-1522-08	TCGA-66-2756-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	472c95e6-eccb-4988-be16-fdace73b2ed8	ff4f5936-f847-42ad-aedf-6a6a7fff6002	g.chr9:126392755G>A	ENST00000373624.2	-	10	820	c.619C>T	c.(619-621)Ctg>Ttg	p.L207L	DENND1A_ENST00000373618.1_Splice_Site_p.L175L|DENND1A_ENST00000394215.2_Splice_Site_p.L177L|DENND1A_ENST00000542603.1_5'UTR|DENND1A_ENST00000473039.1_5'UTR|DENND1A_ENST00000373620.3_Splice_Site_p.L207L|DENND1A_ENST00000394219.3_Splice_Site_p.L175L	NM_020946.1	NP_065997.1	Q8TEH3	DEN1A_HUMAN	DENN/MADD domain containing 1A	207	DENN. {ECO:0000255|PROSITE- ProRule:PRU00304}.				endocytosis (GO:0006897)|positive regulation of Rab GTPase activity (GO:0032851)|protein transport (GO:0015031)|regulation of Rab protein signal transduction (GO:0032483)|synaptic vesicle endocytosis (GO:0048488)	cell junction (GO:0030054)|clathrin-coated vesicle (GO:0030136)|clathrin-coated vesicle membrane (GO:0030665)|dendrite (GO:0030425)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|synapse (GO:0045202)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)	p.L207L(1)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|liver(2)|lung(18)|ovary(2)|prostate(1)|skin(1)|stomach(1)	43						CAGGCAGTCAGCTGGAACAGA	0.507																																						uc004bnz.1																			1	Substitution - coding silent(1)		lung(1)	ovary(2)	2						c.(619-621)CTG>TTG		DENN/MADD domain containing 1A isoform 1							29.0	26.0	27.0					9																	126392755		2202	4298	6500	SO:0001630	splice_region_variant	57706					cell junction|clathrin coated vesicle membrane|presynaptic membrane	guanyl-nucleotide exchange factor activity	g.chr9:126392755G>A	AB046828	CCDS35133.1, CCDS35134.1	9q34.11	2012-10-03	2005-08-17	2005-08-17	ENSG00000119522	ENSG00000119522		"""DENN/MADD domain containing"""	29324	protein-coding gene	gene with protein product		613633	"""KIAA1608"""	KIAA1608		10997877	Standard	XM_005252109		Approved	FLJ21129, FAM31A	uc004bnz.1	Q8TEH3	OTTHUMG00000020643	ENST00000373624.2:c.619-1C>T	9.37:g.126392755G>A						DENND1A_uc011lzl.1_Silent_p.L24L|DENND1A_uc004bny.1_Silent_p.L24L|DENND1A_uc011lzm.1_Silent_p.L175L|DENND1A_uc004boa.1_Silent_p.L207L|DENND1A_uc004bob.1_Silent_p.L177L|DENND1A_uc004boc.2_Silent_p.L175L	p.L207L	NM_020946	NP_065997	Q8TEH3	DEN1A_HUMAN			10	852	-			207			DENN.		A8MZA3|B1AM80|B7Z3C8|B7Z669|D3PFD3|Q05C88|Q5VWF0|Q6PJZ5|Q8IVD6|Q9H796	Silent	SNP	ENST00000373624.2	37	c.619C>T	CCDS35133.1																																																																																				PASS	0.507	DENND1A-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000053997.1	NM_024820	Silent	4	1	4	1	---	---	---	---
DENND1A	57706	broad.mit.edu	37	9	126520021	126520021	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2756-01A-01D-1522-08	TCGA-66-2756-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	472c95e6-eccb-4988-be16-fdace73b2ed8	ff4f5936-f847-42ad-aedf-6a6a7fff6002	g.chr9:126520021C>T	ENST00000373624.2	-	5	464	c.263G>A	c.(262-264)cGc>cAc	p.R88H	DENND1A_ENST00000373618.1_Missense_Mutation_p.R56H|DENND1A_ENST00000394215.2_Missense_Mutation_p.R58H|DENND1A_ENST00000473039.1_5'UTR|DENND1A_ENST00000373620.3_Missense_Mutation_p.R88H|DENND1A_ENST00000394219.3_Missense_Mutation_p.R56H	NM_020946.1	NP_065997.1	Q8TEH3	DEN1A_HUMAN	DENN/MADD domain containing 1A	88	UDENN.				endocytosis (GO:0006897)|positive regulation of Rab GTPase activity (GO:0032851)|protein transport (GO:0015031)|regulation of Rab protein signal transduction (GO:0032483)|synaptic vesicle endocytosis (GO:0048488)	cell junction (GO:0030054)|clathrin-coated vesicle (GO:0030136)|clathrin-coated vesicle membrane (GO:0030665)|dendrite (GO:0030425)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|synapse (GO:0045202)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)	p.R88H(1)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|liver(2)|lung(18)|ovary(2)|prostate(1)|skin(1)|stomach(1)	43						TGAAGATAAGCGGCAGAACCC	0.493																																						uc004bnz.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(262-264)CGC>CAC		DENN/MADD domain containing 1A isoform 1							95.0	85.0	88.0					9																	126520021		2203	4300	6503	SO:0001583	missense	57706					cell junction|clathrin coated vesicle membrane|presynaptic membrane	guanyl-nucleotide exchange factor activity	g.chr9:126520021C>T	AB046828	CCDS35133.1, CCDS35134.1	9q34.11	2012-10-03	2005-08-17	2005-08-17	ENSG00000119522	ENSG00000119522		"""DENN/MADD domain containing"""	29324	protein-coding gene	gene with protein product		613633	"""KIAA1608"""	KIAA1608		10997877	Standard	XM_005252109		Approved	FLJ21129, FAM31A	uc004bnz.1	Q8TEH3	OTTHUMG00000020643	ENST00000373624.2:c.263G>A	9.37:g.126520021C>T	ENSP00000362727:p.Arg88His					DENND1A_uc004bny.1_5'UTR|DENND1A_uc011lzm.1_Missense_Mutation_p.R56H|DENND1A_uc004boa.1_Missense_Mutation_p.R88H|DENND1A_uc004bob.1_Missense_Mutation_p.R58H|DENND1A_uc004boc.2_Missense_Mutation_p.R56H	p.R88H	NM_020946	NP_065997	Q8TEH3	DEN1A_HUMAN			5	496	-			88			UDENN.		A8MZA3|B1AM80|B7Z3C8|B7Z669|D3PFD3|Q05C88|Q5VWF0|Q6PJZ5|Q8IVD6|Q9H796	Missense_Mutation	SNP	ENST00000373624.2	37	c.263G>A	CCDS35133.1	.	.	.	.	.	.	.	.	.	.	C	28.7	4.944974	0.92593	.	.	ENSG00000119522	ENST00000373624;ENST00000394219;ENST00000373620;ENST00000394215;ENST00000373618	T;T;T;T;T	0.49720	0.77;0.77;0.77;0.77;0.77	5.84	5.84	0.93424	uDENN (3);	0.000000	0.85682	D	0.000000	T	0.76118	0.3943	M	0.90309	3.105	0.80722	D	1	D;D;D;D;D	0.89917	0.994;1.0;1.0;0.998;0.999	P;P;D;P;D	0.97110	0.785;0.848;1.0;0.848;0.95	T	0.79926	-0.1597	10	0.66056	D	0.02	-15.877	19.1433	0.93455	0.0:1.0:0.0:0.0	.	56;56;58;88;88	Q8TEH3-6;Q8TEH3-4;Q8TEH3-5;Q8TEH3-2;Q8TEH3	.;.;.;.;DEN1A_HUMAN	H	88;56;88;58;56	ENSP00000362727:R88H;ENSP00000377766:R56H;ENSP00000362722:R88H;ENSP00000377763:R58H;ENSP00000362720:R56H	ENSP00000362720:R56H	R	-	2	0	DENND1A	125559842	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.487000	0.81328	2.760000	0.94817	0.655000	0.94253	CGC		PASS	0.493	DENND1A-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000053997.1	NM_024820		24	60	24	60	---	---	---	---
LHX2	9355	broad.mit.edu	37	9	126794783	126794783	+	Missense_Mutation	SNP	G	G	A			TCGA-66-2756-01A-01D-1522-08	TCGA-66-2756-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	472c95e6-eccb-4988-be16-fdace73b2ed8	ff4f5936-f847-42ad-aedf-6a6a7fff6002	g.chr9:126794783G>A	ENST00000373615.4	+	5	1757	c.1018G>A	c.(1018-1020)Gcg>Acg	p.A340T	RP11-85O21.5_ENST00000429482.1_RNA	NM_004789.3	NP_004780.3	P50458	LHX2_HUMAN	LIM homeobox 2	340					axon extension (GO:0048675)|axon guidance (GO:0007411)|cerebral cortex development (GO:0021987)|dorsal/ventral pattern formation (GO:0009953)|mesoderm development (GO:0007498)|negative regulation of transcription regulatory region DNA binding (GO:2000678)|neural tube closure (GO:0001843)|olfactory bulb development (GO:0021772)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|retina development in camera-type eye (GO:0060041)|telencephalon regionalization (GO:0021978)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II transcription factor binding transcription factor activity (GO:0001076)|sequence-specific DNA binding (GO:0043565)|zinc ion binding (GO:0008270)	p.A340T(1)		endometrium(1)|kidney(2)|large_intestine(2)|lung(4)|prostate(1)	10						GACAGACGCGGCGCTGCAGAC	0.667																																						uc004boe.1																			1	Substitution - Missense(1)		lung(1)		0						c.(1018-1020)GCG>ACG		LIM homeobox protein 2							53.0	57.0	56.0					9																	126794783		2203	4300	6503	SO:0001583	missense	9355					nucleus	sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr9:126794783G>A	U11701	CCDS6853.1	9q33.3	2011-06-20			ENSG00000106689	ENSG00000106689		"""Homeoboxes / LIM class"""	6594	protein-coding gene	gene with protein product		603759				8649822, 10051612	Standard	NM_004789		Approved	LH-2, hLhx2	uc004boe.1	P50458	OTTHUMG00000020647	ENST00000373615.4:c.1018G>A	9.37:g.126794783G>A	ENSP00000362717:p.Ala340Thr					LHX2_uc010mwi.1_Missense_Mutation_p.A348T	p.A340T	NM_004789	NP_004780	P50458	LHX2_HUMAN			5	1757	+			340					O95860|Q52M57|Q8N1Z3	Missense_Mutation	SNP	ENST00000373615.4	37	c.1018G>A	CCDS6853.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	10.09|10.09	1.254300|1.254300	0.22965|0.22965	.|.	.|.	ENSG00000106689|ENSG00000106689	ENST00000373615|ENST00000446480	D|.	0.84223|.	-1.82|.	5.67|5.67	3.58|3.58	0.41010|0.41010	.|.	0.187188|.	0.45126|.	N|.	0.000399|.	T|T	0.23806|0.23806	0.0576|0.0576	N|N	0.14661|0.14661	0.345|0.345	0.30736|0.30736	N|N	0.746694|0.746694	B;B|.	0.02656|.	0.0;0.0|.	B;B|.	0.04013|.	0.001;0.0|.	T|T	0.18650|0.18650	-1.0330|-1.0330	10|5	0.13108|.	T|.	0.6|.	.|.	4.2533|4.2533	0.10705|0.10705	0.4534:0.0:0.5466:0.0|0.4534:0.0:0.5466:0.0	.|.	340;340|.	B3KNJ5;P50458|.	.;LHX2_HUMAN|.	T|D	340|345	ENSP00000362717:A340T|.	ENSP00000362717:A340T|.	A|G	+|+	1|2	0|0	LHX2|LHX2	125834604|125834604	0.981000|0.981000	0.34729|0.34729	0.968000|0.968000	0.41197|0.41197	0.368000|0.368000	0.29767|0.29767	2.364000|2.364000	0.44187|0.44187	1.353000|1.353000	0.45828|0.45828	0.655000|0.655000	0.94253|0.94253	GCG|GGC		PASS	0.667	LHX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054010.2			25	32	25	32	---	---	---	---
ST6GALNAC4	27090	broad.mit.edu	37	9	130672250	130672250	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2756-01A-01D-1522-08	TCGA-66-2756-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	472c95e6-eccb-4988-be16-fdace73b2ed8	ff4f5936-f847-42ad-aedf-6a6a7fff6002	g.chr9:130672250C>A	ENST00000335791.5	-	5	974	c.699G>T	c.(697-699)atG>atT	p.M233I	ST6GALNAC4_ENST00000495983.1_5'UTR|ST6GALNAC4_ENST00000343609.2_Missense_Mutation_p.M149I	NM_175039.3	NP_778204.1	Q9H4F1	SIA7D_HUMAN	ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 4	233					cellular protein metabolic process (GO:0044267)|glycolipid metabolic process (GO:0006664)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|sialylation (GO:0097503)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	(alpha-N-acetylneuraminyl-2,3-beta-galactosyl-1,3)-N-acetyl-galactosaminide 6-alpha-sialyltransferase activity (GO:0047290)|sialyltransferase activity (GO:0008373)	p.M233I(1)		endometrium(1)|large_intestine(2)|lung(2)|prostate(2)	7						TGTCGCTGACCATCCCATAGA	0.652																																						uc004bss.2																			1	Substitution - Missense(1)		lung(1)		0						c.(697-699)ATG>ATT		sialyltransferase 7D isoform a							47.0	43.0	44.0					9																	130672250		2203	4299	6502	SO:0001583	missense	27090				glycolipid metabolic process|protein glycosylation	integral to Golgi membrane|nucleus|soluble fraction	(alpha-N-acetylneuraminyl-2,3-beta-galactosyl-1,3)-N-acetyl-galactosaminide 6-alpha-sialyltransferase activity	g.chr9:130672250C>A	AB035172	CCDS6883.1	9q34	2013-03-01	2005-02-07	2005-02-07	ENSG00000136840	ENSG00000136840	2.4.99.7	"""Sialyltransferases"""	17846	protein-coding gene	gene with protein product		606378	"""sialyltransferase 7D ((alpha-N-acetylneuraminyl-2,3-beta-galactosyl-1,3)-N-acetyl galactosaminide alpha-2,6-sialyltransferase)"""	SIAT7D		10207017, 11062056	Standard	XM_005251922		Approved	ST6GALNACIV, SIAT3C	uc004bss.3	Q9H4F1	OTTHUMG00000020724	ENST00000335791.5:c.699G>T	9.37:g.130672250C>A	ENSP00000336733:p.Met233Ile					ST6GALNAC4_uc004bst.2_Missense_Mutation_p.M149I	p.M233I	NM_175039	NP_778204	Q9H4F1	SIA7D_HUMAN			5	975	-			233			Lumenal (Potential).		Q5T9D0|Q9NWU6|Q9UKU1|Q9ULB9|Q9Y3G3|Q9Y3G4	Missense_Mutation	SNP	ENST00000335791.5	37	c.699G>T	CCDS6883.1	.	.	.	.	.	.	.	.	.	.	C	33	5.284915	0.95517	.	.	ENSG00000136840	ENST00000541933;ENST00000335791;ENST00000343609;ENST00000361444	T;T;T	0.29142	1.58;1.58;1.58	5.48	5.48	0.80851	.	0.000000	0.85682	D	0.000000	T	0.62732	0.2452	M	0.86343	2.81	0.80722	D	1	D	0.76494	0.999	D	0.83275	0.996	T	0.67952	-0.5537	10	0.59425	D	0.04	-8.0848	17.9075	0.88923	0.0:1.0:0.0:0.0	.	233	Q9H4F1	SIA7D_HUMAN	I	149;233;149;149	ENSP00000336733:M233I;ENSP00000340382:M149I;ENSP00000355130:M149I	ENSP00000336733:M233I	M	-	3	0	ST6GALNAC4	129712071	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.258000	0.78371	2.579000	0.87056	0.555000	0.69702	ATG		PASS	0.652	ST6GALNAC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054317.2	NM_175040		22	13	22	13	---	---	---	---
C9orf78	51759	broad.mit.edu	37	9	132595737	132595737	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2756-01A-01D-1522-08	TCGA-66-2756-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	472c95e6-eccb-4988-be16-fdace73b2ed8	ff4f5936-f847-42ad-aedf-6a6a7fff6002	g.chr9:132595737C>A	ENST00000372447.3	-	4	308	c.255G>T	c.(253-255)agG>agT	p.R85S	USP20_ENST00000358355.1_5'Flank|C9orf78_ENST00000461762.1_5'UTR|USP20_ENST00000315480.4_5'Flank|USP20_ENST00000372429.3_5'Flank	NM_016520.2	NP_057604.1	Q9NZ63	CI078_HUMAN	chromosome 9 open reading frame 78	85						cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.R85S(1)		kidney(2)|lung(7)|ovary(1)|prostate(1)|stomach(2)	13		Ovarian(14;0.00556)				TATCTTTGCCCCTTTCCTTCA	0.468																																						uc004byp.2																			1	Substitution - Missense(1)		lung(1)		0						c.(253-255)AGG>AGT		chromosome 9 open reading frame 78							218.0	179.0	192.0					9																	132595737		2203	4300	6503	SO:0001583	missense	51759							g.chr9:132595737C>A	BC017570	CCDS6931.1	9q34.2	2012-03-16			ENSG00000136819	ENSG00000136819			24932	protein-coding gene	gene with protein product	"""Hepatocellular carcinoma-associated antigen 59"""					11042152, 12097419	Standard	NM_016520		Approved	HSPC220, HCA59	uc004byp.3	Q9NZ63	OTTHUMG00000020796	ENST00000372447.3:c.255G>T	9.37:g.132595737C>A	ENSP00000361524:p.Arg85Ser					C9orf78_uc004byo.2_Missense_Mutation_p.R10S|C9orf78_uc004byq.1_Missense_Mutation_p.R31S|USP20_uc004bys.2_5'Flank|USP20_uc004byr.2_5'Flank|USP20_uc004byt.1_5'Flank	p.R85S	NM_016520	NP_057604	Q9NZ63	CI078_HUMAN			4	327	-		Ovarian(14;0.00556)	85					B3KPX8|Q8WVU6|Q9NT39	Missense_Mutation	SNP	ENST00000372447.3	37	c.255G>T	CCDS6931.1	.	.	.	.	.	.	.	.	.	.	C	17.71	3.456640	0.63401	.	.	ENSG00000136819	ENST00000372447;ENST00000435276	T	0.44482	0.92	5.1	2.02	0.26589	.	0.000000	0.85682	D	0.000000	T	0.52273	0.1724	M	0.77820	2.39	0.52501	D	0.999952	P;D;D	0.76494	0.792;0.999;0.998	B;D;D	0.80764	0.255;0.994;0.987	T	0.59521	-0.7439	10	0.10636	T	0.68	.	2.8792	0.05641	0.3806:0.3878:0.0:0.2316	.	10;85;6	E7EVT7;Q9NZ63;Q6GVN4	.;CI078_HUMAN;.	S	85;10	ENSP00000361524:R85S	ENSP00000361524:R85S	R	-	3	2	C9orf78	131635558	0.913000	0.31002	1.000000	0.80357	0.999000	0.98932	-0.011000	0.12721	0.728000	0.32382	0.655000	0.94253	AGG		PASS	0.468	C9orf78-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054625.1	NM_016520		48	67	48	67	---	---	---	---
SETX	23064	broad.mit.edu	37	9	135204637	135204637	+	Missense_Mutation	SNP	T	T	A			TCGA-66-2756-01A-01D-1522-08	TCGA-66-2756-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	472c95e6-eccb-4988-be16-fdace73b2ed8	ff4f5936-f847-42ad-aedf-6a6a7fff6002	g.chr9:135204637T>A	ENST00000224140.5	-	10	2530	c.2348A>T	c.(2347-2349)cAg>cTg	p.Q783L	SETX_ENST00000393220.1_Missense_Mutation_p.Q783L|SETX_ENST00000372169.2_Missense_Mutation_p.Q783L	NM_015046.5	NP_055861.3	Q7Z333	SETX_HUMAN	senataxin	783					cell death (GO:0008219)|circadian rhythm (GO:0007623)|DNA duplex unwinding (GO:0032508)|double-strand break repair (GO:0006302)|RNA processing (GO:0006396)|termination of RNA polymerase II transcription (GO:0006369)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)	p.Q783L(1)		breast(7)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(1)|lung(36)|ovary(2)|prostate(2)|skin(1)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	97		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;6.82e-06)|Epithelial(140;0.000171)		TTCATCTTTCTGTACCTTAGT	0.338																																						uc004cbk.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(1)	3						c.(2347-2349)CAG>CTG		senataxin							85.0	82.0	83.0					9																	135204637		2203	4298	6501	SO:0001583	missense	23064				cell death|double-strand break repair|RNA processing	cytoplasm|nucleolus|nucleoplasm	ATP binding|DNA helicase activity	g.chr9:135204637T>A	AB014525	CCDS6947.1	9q34	2014-09-17	2005-11-29	2005-11-29	ENSG00000107290	ENSG00000107290			445	protein-coding gene	gene with protein product		608465	"""amyotrophic lateral sclerosis 4"", ""spinocerebellar ataxia, recessive, non-Friedreich type 1"""	ALS4, SCAR1		9497266, 11022012	Standard	NM_015046		Approved	KIAA0625, AOA2	uc004cbk.3	Q7Z333	OTTHUMG00000020834	ENST00000224140.5:c.2348A>T	9.37:g.135204637T>A	ENSP00000224140:p.Gln783Leu					SETX_uc004cbj.2_Missense_Mutation_p.Q402L|SETX_uc010mzt.2_Missense_Mutation_p.Q402L	p.Q783L	NM_015046	NP_055861	Q7Z333	SETX_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;6.82e-06)|Epithelial(140;0.000171)	10	2531	-		Myeloproliferative disorder(178;0.204)	783					A2A396|B2RPB2|B5ME16|C9JQ10|O75120|Q3KQX4|Q5JUJ1|Q68DW5|Q6AZD7|Q7Z3J6|Q8WX33|Q9H9D1|Q9NVP9	Missense_Mutation	SNP	ENST00000224140.5	37	c.2348A>T	CCDS6947.1	.	.	.	.	.	.	.	.	.	.	T	17.05	3.290516	0.59976	.	.	ENSG00000107290	ENST00000224140;ENST00000372169;ENST00000393220	D;D;D	0.88124	-2.26;-2.34;-1.96	5.73	5.73	0.89815	.	4.634850	0.00166	N	0.000005	D	0.88040	0.6330	L	0.29908	0.895	0.32368	N	0.556266	D;P;D	0.53462	0.96;0.933;0.96	P;P;P	0.51229	0.663;0.462;0.663	T	0.76462	-0.2950	10	0.41790	T	0.15	.	12.4247	0.55540	0.0:0.0:0.0:1.0	.	783;783;783	Q7Z333-3;Q7Z333;Q7Z333-4	.;SETX_HUMAN;.	L	783	ENSP00000224140:Q783L;ENSP00000361242:Q783L;ENSP00000376913:Q783L	ENSP00000224140:Q783L	Q	-	2	0	SETX	134194458	0.941000	0.31946	0.736000	0.30914	0.980000	0.70556	1.564000	0.36375	2.197000	0.70478	0.533000	0.62120	CAG		PASS	0.338	SETX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054774.3	NM_015046		37	67	37	67	---	---	---	---
KCNT1	57582	broad.mit.edu	37	9	138645808	138645808	+	Missense_Mutation	SNP	T	T	C			TCGA-66-2756-01A-01D-1522-08	TCGA-66-2756-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	472c95e6-eccb-4988-be16-fdace73b2ed8	ff4f5936-f847-42ad-aedf-6a6a7fff6002	g.chr9:138645808T>C	ENST00000263604.3	+	5	403	c.403T>C	c.(403-405)Tcc>Ccc	p.S135P	KCNT1_ENST00000487664.1_Missense_Mutation_p.S106P|KCNT1_ENST00000486577.2_Missense_Mutation_p.S115P|KCNT1_ENST00000488444.2_Missense_Mutation_p.S135P|KCNT1_ENST00000490355.2_Missense_Mutation_p.S135P|KCNT1_ENST00000491806.2_Missense_Mutation_p.S121P|KCNT1_ENST00000371757.2_Missense_Mutation_p.S154P|KCNT1_ENST00000298480.5_Missense_Mutation_p.S154P			Q5JUK3	KCNT1_HUMAN	potassium channel, subfamily T, member 1	135					potassium ion transmembrane transport (GO:0071805)	voltage-gated potassium channel complex (GO:0008076)	calcium-activated potassium channel activity (GO:0015269)|voltage-gated potassium channel activity (GO:0005249)	p.S154P(1)		breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|pancreas(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;2.11e-07)|Epithelial(140;1.57e-06)|all cancers(34;9.22e-05)		GCAGAACTACTCCTTCAATGA	0.632																																						uc011mdq.1																			1	Substitution - Missense(1)		lung(1)	large_intestine(2)|ovary(1)|pancreas(1)	4						c.(460-462)TCC>CCC		potassium channel, subfamily T, member 1							83.0	75.0	78.0					9																	138645808		2203	4300	6503	SO:0001583	missense	57582					membrane	binding|calcium-activated potassium channel activity	g.chr9:138645808T>C	AB037843	CCDS35175.1, CCDS35175.2, CCDS65188.1	9q34.3	2012-07-05			ENSG00000107147	ENSG00000107147		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, calcium-activated"""	18865	protein-coding gene	gene with protein product		608167				10718198, 16382103	Standard	NM_020822		Approved	KCa4.1, KIAA1422	uc011mdq.2	Q5JUK3	OTTHUMG00000020917	ENST00000263604.3:c.403T>C	9.37:g.138645808T>C	ENSP00000263604:p.Ser135Pro					KCNT1_uc011mdr.1_5'UTR|KCNT1_uc010nbf.2_Missense_Mutation_p.S106P|KCNT1_uc004cgo.1_5'UTR	p.S154P	NM_020822	NP_065873	Q5JUK3	KCNT1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;2.11e-07)|Epithelial(140;1.57e-06)|all cancers(34;9.22e-05)	5	534	+		Myeloproliferative disorder(178;0.0821)	154					B3KXF7|B7ZVY4|B9EGP2|G5E9V0|Q9P2C5	Missense_Mutation	SNP	ENST00000263604.3	37	c.460T>C		.	.	.	.	.	.	.	.	.	.	.	9.148	1.015665	0.19355	.	.	ENSG00000107147	ENST00000487664;ENST00000298480;ENST00000371757;ENST00000473941;ENST00000486577;ENST00000491806;ENST00000488444;ENST00000490355;ENST00000263604	T;T;T;T;T	0.45276	1.88;1.88;1.88;0.9;1.88	3.85	1.32	0.21799	.	0.504341	0.18359	U	0.143630	T	0.27205	0.0667	L	0.39898	1.24	0.24711	N	0.993202	B;B	0.27117	0.0;0.168	B;B	0.22386	0.001;0.039	T	0.13656	-1.0501	10	0.39692	T	0.17	-34.1455	3.8779	0.09064	0.7036:0.0:0.1076:0.1887	.	154;106	B9EGP2;G5E9V0	.;.	P	106;154;154;101;115;121;135;135;135	ENSP00000417851:S106P;ENSP00000298480:S154P;ENSP00000360822:S154P;ENSP00000420764:S101P;ENSP00000263604:S135P	ENSP00000263604:S135P	S	+	1	0	KCNT1	137785629	1.000000	0.71417	0.995000	0.50966	0.759000	0.43091	2.177000	0.42509	0.067000	0.16545	-0.953000	0.02652	TCC		PASS	0.632	KCNT1-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_020822		20	36	20	36	---	---	---	---
CUBN	8029	broad.mit.edu	37	10	16916418	16916418	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2756-01A-01D-1522-08	TCGA-66-2756-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	472c95e6-eccb-4988-be16-fdace73b2ed8	ff4f5936-f847-42ad-aedf-6a6a7fff6002	g.chr10:16916418C>T	ENST00000377833.4	-	58	9256	c.9191G>A	c.(9190-9192)tGt>tAt	p.C3064Y		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	3064	CUB 23. {ECO:0000255|PROSITE- ProRule:PRU00059}.				cholesterol metabolic process (GO:0008203)|cobalamin metabolic process (GO:0009235)|cobalamin transport (GO:0015889)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|receptor-mediated endocytosis (GO:0006898)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|tissue homeostasis (GO:0001894)|vitamin D metabolic process (GO:0042359)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|extrinsic component of external side of plasma membrane (GO:0031232)|Golgi apparatus (GO:0005794)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|cobalamin binding (GO:0031419)|protein homodimerization activity (GO:0042803)|receptor activity (GO:0004872)|transporter activity (GO:0005215)	p.C3064Y(1)		breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	GGTATACAGACAGTGCATATC	0.408																																						uc001ioo.2																			1	Substitution - Missense(1)		lung(1)	ovary(9)|breast(4)|pancreas(2)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)|kidney(1)	19						c.(9190-9192)TGT>TAT		cubilin precursor	Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)						221.0	178.0	193.0					10																	16916418		2203	4300	6503	SO:0001583	missense	8029				cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity	g.chr10:16916418C>T	AF034611	CCDS7113.1	10p12	2014-09-17			ENSG00000107611	ENSG00000107611			2548	protein-coding gene	gene with protein product		602997		MGA1		9572993, 9478979	Standard	NM_001081		Approved	IFCR, gp280	uc001ioo.3	O60494	OTTHUMG00000017741	ENST00000377833.4:c.9191G>A	10.37:g.16916418C>T	ENSP00000367064:p.Cys3064Tyr					CUBN_uc009xjq.1_RNA|CUBN_uc009xjr.1_Missense_Mutation_p.C420Y	p.C3064Y	NM_001081	NP_001072	O60494	CUBN_HUMAN			58	9243	-			3064			CUB 23.		B0YIZ4|Q5VTA6|Q96RU9	Missense_Mutation	SNP	ENST00000377833.4	37	c.9191G>A	CCDS7113.1	.	.	.	.	.	.	.	.	.	.	C	14.40	2.525329	0.44969	.	.	ENSG00000107611	ENST00000377833	T	0.66280	-0.2	5.23	5.23	0.72850	CUB (5);	0.000000	0.45867	D	0.000330	D	0.84615	0.5511	M	0.93594	3.435	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	D	0.88636	0.3172	10	0.87932	D	0	.	17.9263	0.88985	0.0:1.0:0.0:0.0	.	3064	O60494	CUBN_HUMAN	Y	3064	ENSP00000367064:C3064Y	ENSP00000367064:C3064Y	C	-	2	0	CUBN	16956424	1.000000	0.71417	0.829000	0.32907	0.023000	0.10783	5.818000	0.69236	2.592000	0.87571	0.655000	0.94253	TGT		PASS	0.408	CUBN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047009.1	NM_001081		92	94	92	94	---	---	---	---
SLC39A12	221074	broad.mit.edu	37	10	18289742	18289742	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2756-01A-01D-1522-08	TCGA-66-2756-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	472c95e6-eccb-4988-be16-fdace73b2ed8	ff4f5936-f847-42ad-aedf-6a6a7fff6002	g.chr10:18289742C>A	ENST00000377369.2	+	11	2020	c.1747C>A	c.(1747-1749)Cca>Aca	p.P583T	SLC39A12_ENST00000539911.1_Missense_Mutation_p.P449T|SLC39A12_ENST00000377371.3_Missense_Mutation_p.P582T|SLC39A12-AS1_ENST00000439319.1_RNA|SLC39A12_ENST00000377374.4_Missense_Mutation_p.P546T|SLC39A12-AS1_ENST00000445287.1_RNA	NM_001145195.1|NM_001282733.1|NM_001282734.1	NP_001138667.1|NP_001269662.1|NP_001269663.1	Q504Y0	S39AC_HUMAN	solute carrier family 39 (zinc transporter), member 12	583					regulation of microtubule polymerization (GO:0031113)|regulation of neuron projection development (GO:0010975)|signal transduction (GO:0007165)|zinc ion transmembrane import (GO:0071578)	integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	zinc ion transmembrane transporter activity (GO:0005385)	p.P546T(1)		NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|kidney(3)|large_intestine(5)|lung(38)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	60						TCATGAAATCCCACATGAAAT	0.413																																						uc001ipo.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|breast(1)	2						c.(1747-1749)CCA>ACA		solute carrier family 39 (zinc transporter),							111.0	93.0	99.0					10																	18289742		2203	4300	6503	SO:0001583	missense	221074				zinc ion transport	integral to membrane	metal ion transmembrane transporter activity	g.chr10:18289742C>A		CCDS7124.1, CCDS44362.1, CCDS60493.1, CCDS60494.1	10p12.33	2013-05-22			ENSG00000148482	ENSG00000148482		"""Solute carriers"""	20860	protein-coding gene	gene with protein product		608734	"""solute carrier family 39 (metal ion transporter), member 12"""			12659941	Standard	NM_152725		Approved	FLJ30499	uc001ipo.2	Q504Y0	OTTHUMG00000017759	ENST00000377369.2:c.1747C>A	10.37:g.18289742C>A	ENSP00000366586:p.Pro583Thr					SLC39A12_uc001ipn.2_Missense_Mutation_p.P546T|SLC39A12_uc001ipp.2_Missense_Mutation_p.P582T|SLC39A12_uc010qck.1_Missense_Mutation_p.P449T	p.P583T	NM_001145195	NP_001138667	Q504Y0	S39AC_HUMAN			11	2020	+			583			XEXPHE-motif.|Cytoplasmic (Potential).		B7ZL35|C9JJL4|Q49AN8|Q4G0L3|Q5VWV8|Q5VWV9|Q6NZY5|Q96NN4	Missense_Mutation	SNP	ENST00000377369.2	37	c.1747C>A	CCDS44362.1	.	.	.	.	.	.	.	.	.	.	C	23.0	4.357957	0.82243	.	.	ENSG00000148482	ENST00000377369;ENST00000377374;ENST00000377371;ENST00000539911;ENST00000425219	T;T;T;T	0.58210	0.35;0.35;0.35;0.35	5.62	5.62	0.85841	.	0.000000	0.85682	D	0.000000	D	0.83124	0.5186	H	0.97077	3.935	0.80722	D	1	D;D;D	0.89917	1.0;0.999;1.0	D;D;D	0.97110	1.0;0.998;1.0	D	0.88126	0.2835	10	0.87932	D	0	-21.3518	20.0281	0.97530	0.0:1.0:0.0:0.0	.	582;583;546	Q504Y0-4;Q504Y0;Q504Y0-3	.;S39AC_HUMAN;.	T	583;546;582;449;503	ENSP00000366586:P583T;ENSP00000366591:P546T;ENSP00000366588:P582T;ENSP00000440445:P449T	ENSP00000366586:P583T	P	+	1	0	SLC39A12	18329748	1.000000	0.71417	1.000000	0.80357	0.658000	0.38924	7.776000	0.85560	2.818000	0.97014	0.655000	0.94253	CCA		PASS	0.413	SLC39A12-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_152725		20	54	20	54	---	---	---	---
SPAG6	9576	broad.mit.edu	37	10	22634681	22634681	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2756-01A-01D-1522-08	TCGA-66-2756-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	472c95e6-eccb-4988-be16-fdace73b2ed8	ff4f5936-f847-42ad-aedf-6a6a7fff6002	g.chr10:22634681C>G	ENST00000376624.3	+	2	197	c.55C>G	c.(55-57)Cag>Gag	p.Q19E	SPAG6_ENST00000538630.1_5'UTR|SPAG6_ENST00000376601.1_Missense_Mutation_p.Q19E|SPAG6_ENST00000376603.2_Missense_Mutation_p.Q19E|SPAG6_ENST00000313311.6_Missense_Mutation_p.Q19E	NM_001253855.1|NM_012443.3	NP_001240784.1|NP_036575.1	O75602	SPAG6_HUMAN	sperm associated antigen 6	19					cell projection organization (GO:0030030)|spermatid development (GO:0007286)	axoneme (GO:0005930)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|motile cilium (GO:0031514)|nucleus (GO:0005634)		p.Q19E(1)		breast(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(13)|prostate(1)|skin(2)	27						GGCCAGGACCCAGTTCGTGCA	0.672																																						uc001iri.2																			1	Substitution - Missense(1)		lung(1)	breast(1)	1						c.(55-57)CAG>GAG		sperm associated antigen 6 isoform 1							45.0	39.0	41.0					10																	22634681		2203	4299	6502	SO:0001583	missense	9576				cell projection organization|spermatid development	axoneme|cilium|cytoplasm|flagellum|microtubule	binding	g.chr10:22634681C>G	AF079363	CCDS7139.1, CCDS7140.1, CCDS58071.1, CCDS73072.1	10p12.31	2014-01-21			ENSG00000077327	ENSG00000077327		"""Armadillo repeat containing"""	11215	protein-coding gene	gene with protein product	"""axoneme central apparatus protein"""	605730				10493827	Standard	NM_012443		Approved	Repro-SA-1, pf16, CT141	uc001iri.3	O75602	OTTHUMG00000017808	ENST00000376624.3:c.55C>G	10.37:g.22634681C>G	ENSP00000365811:p.Gln19Glu					SPAG6_uc001irj.2_Missense_Mutation_p.Q19E|SPAG6_uc010qct.1_5'UTR|SPAG6_uc009xkh.2_5'UTR	p.Q19E	NM_012443	NP_036575	O75602	SPAG6_HUMAN			2	197	+			19					A8K1I8|B4DXZ4|Q5VUX5|Q5VUX6|Q5VUX7|Q6FI74|Q8NHQ6	Missense_Mutation	SNP	ENST00000376624.3	37	c.55C>G	CCDS7139.1	.	.	.	.	.	.	.	.	.	.	C	5.616	0.298443	0.10622	.	.	ENSG00000077327	ENST00000376624;ENST00000376603;ENST00000376601;ENST00000456231;ENST00000313311;ENST00000435326	T;T;T;T;T;T	0.64260	-0.09;2.84;0.82;0.82;-0.09;1.87	4.45	2.58	0.30949	Armadillo-type fold (1);	0.242548	0.43416	D	0.000564	T	0.52741	0.1753	M	0.63428	1.95	0.80722	D	1	B;B	0.02656	0.0;0.0	B;B	0.08055	0.003;0.001	T	0.40384	-0.9566	10	0.13108	T	0.6	-0.0889	9.4603	0.38781	0.0:0.7749:0.1444:0.0807	.	19;19	O75602-2;O75602	.;SPAG6_HUMAN	E	19	ENSP00000365811:Q19E;ENSP00000365788:Q19E;ENSP00000365786:Q19E;ENSP00000411111:Q19E;ENSP00000323599:Q19E;ENSP00000406594:Q19E	ENSP00000323599:Q19E	Q	+	1	0	SPAG6	22674687	1.000000	0.71417	0.789000	0.31954	0.279000	0.26890	3.639000	0.54339	0.451000	0.26802	-0.666000	0.03841	CAG		PASS	0.672	SPAG6-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047187.1			6	10	6	10	---	---	---	---
MYO3A	53904	broad.mit.edu	37	10	26359100	26359100	+	Missense_Mutation	SNP	G	G	C			TCGA-66-2756-01A-01D-1522-08	TCGA-66-2756-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	472c95e6-eccb-4988-be16-fdace73b2ed8	ff4f5936-f847-42ad-aedf-6a6a7fff6002	g.chr10:26359100G>C	ENST00000265944.5	+	13	1397	c.1231G>C	c.(1231-1233)Gct>Cct	p.A411P	MYO3A_ENST00000543632.1_Missense_Mutation_p.A411P	NM_017433.4	NP_059129.3	Q8NEV4	MYO3A_HUMAN	myosin IIIA	411	Myosin motor.				ATP catabolic process (GO:0006200)|inner ear development (GO:0048839)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of filopodium assembly (GO:0051491)|protein autophosphorylation (GO:0046777)|response to stimulus (GO:0050896)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|filamentous actin (GO:0031941)|filopodium (GO:0030175)|filopodium tip (GO:0032433)|myosin complex (GO:0016459)|photoreceptor inner segment (GO:0001917)|stereocilium bundle tip (GO:0032426)	actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)|plus-end directed microfilament motor activity (GO:0060002)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.A411P(1)		NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	146						TTTTGCAATGGCTGACTTAGG	0.328																																						uc001isn.2																			1	Substitution - Missense(1)		lung(1)	ovary(6)|stomach(3)|lung(3)|central_nervous_system(2)|breast(1)|skin(1)|kidney(1)|pancreas(1)	18						c.(1231-1233)GCT>CCT		myosin IIIA							68.0	69.0	69.0					10																	26359100		2202	4300	6502	SO:0001583	missense	53904				protein autophosphorylation|response to stimulus|sensory perception of sound|visual perception	cytoplasm|filamentous actin|filopodium|myosin complex	actin binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|plus-end directed microfilament motor activity|protein serine/threonine kinase activity	g.chr10:26359100G>C	AF229172	CCDS7148.1	10p11.1	2011-09-27	2004-05-19		ENSG00000095777	ENSG00000095777		"""Myosins / Myosin superfamily : Class III"""	7601	protein-coding gene	gene with protein product		606808	"""deafness, autosomal recessive 30"""	DFNB30		10936054	Standard	NM_017433		Approved		uc001isn.2	Q8NEV4	OTTHUMG00000017837	ENST00000265944.5:c.1231G>C	10.37:g.26359100G>C	ENSP00000265944:p.Ala411Pro					MYO3A_uc009xko.1_Missense_Mutation_p.A411P|MYO3A_uc009xkp.1_RNA|MYO3A_uc009xkq.1_Missense_Mutation_p.A411P	p.A411P	NM_017433	NP_059129	Q8NEV4	MYO3A_HUMAN			13	1591	+			411			Myosin head-like.		Q4G0X2|Q5VZ28|Q8WX17|Q9NYS8	Missense_Mutation	SNP	ENST00000265944.5	37	c.1231G>C	CCDS7148.1	.	.	.	.	.	.	.	.	.	.	G	25.5	4.640945	0.87859	.	.	ENSG00000095777	ENST00000265944;ENST00000543632	D;D	0.93712	-3.27;-3.27	5.79	5.79	0.91817	Myosin head, motor domain (2);	0.000000	0.85682	D	0.000000	D	0.98476	0.9492	H	0.99104	4.43	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;0.999;1.0	D	0.99293	1.0899	10	0.87932	D	0	.	20.0275	0.97527	0.0:0.0:1.0:0.0	.	411;411;411	F5H0U9;Q0VD65;Q8NEV4	.;.;MYO3A_HUMAN	P	411	ENSP00000265944:A411P;ENSP00000445909:A411P	ENSP00000265944:A411P	A	+	1	0	MYO3A	26399106	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	7.580000	0.82523	2.727000	0.93392	0.650000	0.86243	GCT		PASS	0.328	MYO3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047259.1	NM_017433		47	46	47	46	---	---	---	---
PTCHD3	374308	broad.mit.edu	37	10	27702174	27702174	+	Missense_Mutation	SNP	C	C	A	rs143991061		TCGA-66-2756-01A-01D-1522-08	TCGA-66-2756-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	472c95e6-eccb-4988-be16-fdace73b2ed8	ff4f5936-f847-42ad-aedf-6a6a7fff6002	g.chr10:27702174C>A	ENST00000438700.3	-	1	1123	c.1006G>T	c.(1006-1008)Gac>Tac	p.D336Y		NM_001034842.3	NP_001030014.2	Q3KNS1	PTHD3_HUMAN	patched domain containing 3	336					spermatid development (GO:0007286)	integral component of membrane (GO:0016021)|sperm midpiece (GO:0097225)	hedgehog receptor activity (GO:0008158)	p.D336Y(1)		NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	55						CTCTGCACGTCGTACTCAGGG	0.527																																						uc001itu.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|pancreas(1)|skin(1)	4						c.(1006-1008)GAC>TAC		patched domain containing 3							124.0	127.0	126.0					10																	27702174		2203	4300	6503	SO:0001583	missense	374308				spermatid development	integral to membrane	hedgehog receptor activity	g.chr10:27702174C>A	AK126025	CCDS31173.1	10p12.1	2006-05-26			ENSG00000182077	ENSG00000182077			24776	protein-coding gene	gene with protein product		611791					Standard	NM_001034842		Approved	FLJ44037, PTR	uc001itu.2	Q3KNS1	OTTHUMG00000017860	ENST00000438700.3:c.1006G>T	10.37:g.27702174C>A	ENSP00000417658:p.Asp336Tyr						p.D336Y	NM_001034842	NP_001030014	Q3KNS1	PTHD3_HUMAN			1	1124	-			336					I3L499|Q6ZU28	Missense_Mutation	SNP	ENST00000438700.3	37	c.1006G>T	CCDS31173.1	.	.	.	.	.	.	.	.	.	.	C	12.70	2.017690	0.35606	.	.	ENSG00000182077	ENST00000438700	D	0.86097	-2.07	3.98	-3.85	0.04243	.	3.422580	0.00698	N	0.000768	T	0.81683	0.4874	L	0.52011	1.625	0.09310	N	1	B	0.30741	0.293	B	0.36418	0.224	T	0.69057	-0.5246	10	0.72032	D	0.01	-0.1404	5.3299	0.15926	0.0:0.2655:0.2559:0.4786	.	336	Q3KNS1	PTHD3_HUMAN	Y	336	ENSP00000417658:D336Y	ENSP00000417658:D336Y	D	-	1	0	PTCHD3	27742180	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.547000	0.06055	-0.389000	0.07786	-2.612000	0.00159	GAC		PASS	0.527	PTCHD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047325.3	XM_370541		71	216	71	216	---	---	---	---
ARMC4	55130	broad.mit.edu	37	10	28233220	28233220	+	Silent	SNP	A	A	G			TCGA-66-2756-01A-01D-1522-08	TCGA-66-2756-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	472c95e6-eccb-4988-be16-fdace73b2ed8	ff4f5936-f847-42ad-aedf-6a6a7fff6002	g.chr10:28233220A>G	ENST00000305242.5	-	12	1766	c.1674T>C	c.(1672-1674)acT>acC	p.T558T	ARMC4_ENST00000545014.1_Silent_p.T83T|ARMC4_ENST00000480504.1_5'Flank|ARMC4_ENST00000537576.1_Silent_p.T250T	NM_018076.2	NP_060546.2	Q5T2S8	ARMC4_HUMAN	armadillo repeat containing 4	558					cell projection organization (GO:0030030)|cilium movement (GO:0003341)|left/right axis specification (GO:0070986)|outer dynein arm assembly (GO:0036158)|ventricular system development (GO:0021591)	axoneme (GO:0005930)|ciliary base (GO:0097546)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)		p.T558T(1)		NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(17)|liver(1)|lung(17)|ovary(5)|prostate(3)|skin(8)|stomach(2)|urinary_tract(3)	75						CATTCGCGATAGTCTCGGCTG	0.468																																						uc009xky.2																			1	Substitution - coding silent(1)		lung(1)	ovary(4)|skin(2)	6						c.(1672-1674)ACT>ACC		armadillo repeat containing 4							72.0	63.0	66.0					10																	28233220		2203	4300	6503	SO:0001819	synonymous_variant	55130						binding	g.chr10:28233220A>G	AL136859	CCDS7157.1	10p12.1-p11.23	2014-02-03			ENSG00000169126	ENSG00000169126		"""Armadillo repeat containing"""	25583	protein-coding gene	gene with protein product		615408				11230166	Standard	XM_005252485		Approved	FLJ10817, FLJ10376, DKFZP434P1735, CILD23	uc001itz.3	Q5T2S8	OTTHUMG00000017867	ENST00000305242.5:c.1674T>C	10.37:g.28233220A>G						ARMC4_uc010qds.1_Silent_p.T83T|ARMC4_uc010qdt.1_Silent_p.T250T|ARMC4_uc001itz.2_Silent_p.T558T|ARMC4_uc010qdu.1_Silent_p.T250T	p.T558T	NM_018076	NP_060546	Q5T2S8	ARMC4_HUMAN			12	1772	-			558			ARM 2.		A8K906|B7Z7I1|Q9H0C0	Silent	SNP	ENST00000305242.5	37	c.1674T>C	CCDS7157.1																																																																																				PASS	0.468	ARMC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047339.1	NM_018076		13	34	13	34	---	---	---	---
ZNF33A	7581	broad.mit.edu	37	10	38344866	38344866	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2756-01A-01D-1522-08	TCGA-66-2756-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	472c95e6-eccb-4988-be16-fdace73b2ed8	ff4f5936-f847-42ad-aedf-6a6a7fff6002	g.chr10:38344866G>T	ENST00000458705.2	+	5	1969	c.1811G>T	c.(1810-1812)gGg>gTg	p.G604V	ZNF33A_ENST00000432900.2_Missense_Mutation_p.G611V|ZNF33A_ENST00000469037.2_Intron|ZNF33A_ENST00000374618.3_Missense_Mutation_p.G605V|ZNF33A_ENST00000307441.9_Missense_Mutation_p.G604V			Q06730	ZN33A_HUMAN	zinc finger protein 33A	604					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.G604V(1)		cervix(2)|endometrium(2)|large_intestine(8)|liver(2)|lung(27)|ovary(2)|prostate(1)|skin(2)	46						ACACATACAGGGGAGAAACCC	0.373																																						uc001izh.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(1)	3						c.(1810-1812)GGG>GTG		zinc finger protein 33A isoform b							70.0	68.0	69.0					10																	38344866		2203	4300	6503	SO:0001583	missense	7581					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr10:38344866G>T	D31763	CCDS31182.1, CCDS60514.1, CCDS73088.1, CCDS73089.1	10p11.2	2013-01-08	2005-03-18		ENSG00000189180	ENSG00000189180		"""Zinc fingers, C2H2-type"", ""-"""	13096	protein-coding gene	gene with protein product	"""zinc finger and ZAK associated protein with KRAB domain"""	194521	"""zinc finger protein 33a (KOX 31)"", ""zinc finger protein 11A"""	ZNF33, ZNF11A		2014798, 8464732	Standard	NM_006974		Approved	KOX5, KOX31, KIAA0065, FLJ23404, ZZAPK	uc031pui.1	Q06730	OTTHUMG00000017983	ENST00000458705.2:c.1811G>T	10.37:g.38344866G>T	ENSP00000387713:p.Gly604Val					ZNF33A_uc001izg.2_Missense_Mutation_p.G605V|ZNF33A_uc010qev.1_Missense_Mutation_p.G611V|ZNF33A_uc001izi.1_Intron	p.G604V	NM_006974	NP_008905	Q06730	ZN33A_HUMAN			5	1989	+			604					A8K9X9|B4E0M8|F6TH33|F8WAJ5|P17013|Q5VZ86	Missense_Mutation	SNP	ENST00000458705.2	37	c.1811G>T	CCDS31182.1	.	.	.	.	.	.	.	.	.	.	G	13.83	2.353202	0.41700	.	.	ENSG00000189180	ENST00000374618;ENST00000432900;ENST00000458705;ENST00000307441	T;T;T;T	0.23552	1.9;1.9;1.9;1.9	1.69	1.69	0.24217	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.34652	N	0.003790	T	0.47820	0.1466	M	0.81179	2.53	0.47862	D	0.999533	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;0.999	T	0.50363	-0.8837	10	0.87932	D	0	.	8.8982	0.35479	0.0:0.0:1.0:0.0	.	611;604;605	F6TH33;Q06730;F8WAJ5	.;ZN33A_HUMAN;.	V	605;611;604;604	ENSP00000363747:G605V;ENSP00000402467:G611V;ENSP00000387713:G604V;ENSP00000304268:G604V	ENSP00000304268:G604V	G	+	2	0	ZNF33A	38384872	0.691000	0.27709	0.999000	0.59377	0.970000	0.65996	1.400000	0.34577	0.902000	0.36520	0.313000	0.20887	GGG		PASS	0.373	ZNF33A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000047614.1	NM_006974		64	64	64	64	---	---	---	---
ARHGAP22	58504	broad.mit.edu	37	10	49791061	49791061	+	Silent	SNP	G	G	C			TCGA-66-2756-01A-01D-1522-08	TCGA-66-2756-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	472c95e6-eccb-4988-be16-fdace73b2ed8	ff4f5936-f847-42ad-aedf-6a6a7fff6002	g.chr10:49791061G>C	ENST00000249601.4	-	2	467	c.171C>G	c.(169-171)cgC>cgG	p.R57R	ARHGAP22_ENST00000491108.1_5'UTR|ARHGAP22_ENST00000435790.2_Silent_p.R63R|ARHGAP22_ENST00000417912.2_Silent_p.R57R	NM_001256024.1|NM_021226.3	NP_001242953.1|NP_067049.2	Q7Z5H3	RHG22_HUMAN	Rho GTPase activating protein 22	57	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				angiogenesis (GO:0001525)|cell differentiation (GO:0030154)|regulation of small GTPase mediated signal transduction (GO:0051056)|regulation of transcription, DNA-templated (GO:0006355)|small GTPase mediated signal transduction (GO:0007264)|transcription, DNA-templated (GO:0006351)	cytosol (GO:0005829)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	GTPase activator activity (GO:0005096)	p.R57R(1)		endometrium(3)|large_intestine(3)|lung(7)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						GCACAAACCAGCGCTGCTGCC	0.607																																						uc001jgt.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(169-171)CGC>CGG		Rho GTPase activating protein 2							143.0	130.0	134.0					10																	49791061		2203	4300	6503	SO:0001819	synonymous_variant	58504				angiogenesis|cell differentiation|regulation of small GTPase mediated signal transduction|regulation of transcription, DNA-dependent|small GTPase mediated signal transduction|transcription, DNA-dependent	cytosol|nucleus	GTPase activator activity	g.chr10:49791061G>C	AY324801	CCDS7227.1, CCDS58079.1, CCDS58080.1, CCDS58081.1	10q11.23	2013-01-10			ENSG00000128805	ENSG00000128805		"""Rho GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"""	30320	protein-coding gene	gene with protein product		610585				8619474	Standard	NM_021226		Approved	RhoGAP2	uc010qgm.3	Q7Z5H3	OTTHUMG00000018176	ENST00000249601.4:c.171C>G	10.37:g.49791061G>C						ARHGAP22_uc001jgu.2_Silent_p.R57R|ARHGAP22_uc010qgl.1_Silent_p.R57R|ARHGAP22_uc010qgm.1_Silent_p.R63R|ARHGAP22_uc001jgv.2_5'UTR	p.R57R	NM_021226	NP_067049	Q7Z5H3	RHG22_HUMAN			2	468	-			57			PH.		A0AVP7|A5YM75|B4DED8|B9EGA0|C9JDM2|O00152|Q6ZSB0	Silent	SNP	ENST00000249601.4	37	c.171C>G	CCDS7227.1																																																																																				PASS	0.607	ARHGAP22-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000358767.1	NM_021226		48	151	48	151	---	---	---	---
CHAT	1103	broad.mit.edu	37	10	50835662	50835662	+	Silent	SNP	C	C	G			TCGA-66-2756-01A-01D-1522-08	TCGA-66-2756-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	472c95e6-eccb-4988-be16-fdace73b2ed8	ff4f5936-f847-42ad-aedf-6a6a7fff6002	g.chr10:50835662C>G	ENST00000337653.2	+	7	1095	c.942C>G	c.(940-942)gtC>gtG	p.V314V	CHAT_ENST00000455728.2_Silent_p.V196V|CHAT_ENST00000395562.2_Silent_p.V232V|CHAT_ENST00000351556.3_Silent_p.V196V|CHAT_ENST00000395559.2_Silent_p.V196V|CHAT_ENST00000339797.1_Silent_p.V196V	NM_001142929.1|NM_020549.4	NP_001136401.1|NP_065574	P28329	CLAT_HUMAN	choline O-acetyltransferase	314					adult walking behavior (GO:0007628)|dendrite development (GO:0016358)|establishment of synaptic specificity at neuromuscular junction (GO:0007529)|glycerophospholipid biosynthetic process (GO:0046474)|muscle organ development (GO:0007517)|neuromuscular synaptic transmission (GO:0007274)|neurotransmitter biosynthetic process (GO:0042136)|neurotransmitter secretion (GO:0007269)|phosphatidylcholine biosynthetic process (GO:0006656)|phospholipid metabolic process (GO:0006644)|rhythmic behavior (GO:0007622)|rhythmic excitation (GO:0043179)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	axon (GO:0030424)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)	choline O-acetyltransferase activity (GO:0004102)	p.V314V(1)		central_nervous_system(3)|endometrium(2)|kidney(2)|large_intestine(11)|lung(34)|prostate(3)|urinary_tract(1)	56		all_neural(218;0.107)		GBM - Glioblastoma multiforme(2;0.000585)	Choline(DB00122)|Nicotine(DB00184)	AGTTCTTTGTCTTGGATGTTG	0.512																																						uc001jhz.2																			1	Substitution - coding silent(1)		lung(1)	central_nervous_system(3)	3						c.(940-942)GTC>GTG		choline acetyltransferase isoform 2	Choline(DB00122)						223.0	184.0	197.0					10																	50835662		2203	4300	6503	SO:0001819	synonymous_variant	1103				neurotransmitter biosynthetic process|neurotransmitter secretion	cytosol|nucleus	choline O-acetyltransferase activity	g.chr10:50835662C>G	AF305907	CCDS7232.1, CCDS7233.1, CCDS44389.1	10q11.2	2010-05-11	2010-05-11		ENSG00000070748	ENSG00000070748	2.3.1.6		1912	protein-coding gene	gene with protein product		118490	"""choline acetyltransferase"""			1840566	Standard	NM_020984		Approved		uc001jhz.2	P28329	OTTHUMG00000018198	ENST00000337653.2:c.942C>G	10.37:g.50835662C>G						CHAT_uc001jhv.1_Silent_p.V196V|CHAT_uc001jhx.1_Silent_p.V196V|CHAT_uc001jhy.1_Silent_p.V196V|CHAT_uc001jia.2_Silent_p.V196V|CHAT_uc010qgs.1_Silent_p.V196V	p.V314V	NM_020549	NP_065574	P28329	CLAT_HUMAN		GBM - Glioblastoma multiforme(2;0.000585)	7	1095	+		all_neural(218;0.107)	314					A2BDF4|A2BDF5|Q16488|Q9BQ23|Q9BQ35|Q9BQE1	Silent	SNP	ENST00000337653.2	37	c.942C>G	CCDS7232.1																																																																																				PASS	0.512	CHAT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047997.1	NM_020549		56	147	56	147	---	---	---	---
RHOBTB1	9886	broad.mit.edu	37	10	62648482	62648482	+	Missense_Mutation	SNP	T	T	A			TCGA-66-2756-01A-01D-1522-08	TCGA-66-2756-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	472c95e6-eccb-4988-be16-fdace73b2ed8	ff4f5936-f847-42ad-aedf-6a6a7fff6002	g.chr10:62648482T>A	ENST00000337910.5	-	6	1281	c.944A>T	c.(943-945)aAg>aTg	p.K315M	RHOBTB1_ENST00000357917.4_Missense_Mutation_p.K315M	NM_001242359.1|NM_014836.4	NP_001229288.1|NP_055651.1	O94844	RHBT1_HUMAN	Rho-related BTB domain containing 1	315	BTB 1. {ECO:0000255|PROSITE- ProRule:PRU00037}.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)	p.K315M(1)		endometrium(4)|large_intestine(6)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)	23	Prostate(12;0.0112)					TCTGCTCTGCTTCTCTTTCTC	0.493																																						uc001jli.2																			1	Substitution - Missense(1)		lung(1)	upper_aerodigestive_tract(1)	1						c.(943-945)AAG>ATG		Rho-related BTB domain containing 1							60.0	67.0	65.0					10																	62648482		2203	4300	6503	SO:0001583	missense	9886				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|plasma membrane	GTP binding	g.chr10:62648482T>A	AB018283	CCDS7261.1	10q22.1	2013-01-08			ENSG00000072422	ENSG00000072422		"""BTB/POZ domain containing"""	18738	protein-coding gene	gene with protein product		607351				11222756	Standard	NM_014836		Approved	KIAA0740	uc001jlh.3	O94844	OTTHUMG00000018292	ENST00000337910.5:c.944A>T	10.37:g.62648482T>A	ENSP00000338671:p.Lys315Met					RHOBTB1_uc001jlh.2_Missense_Mutation_p.K315M|RHOBTB1_uc001jlj.2_Missense_Mutation_p.K315M|RHOBTB1_uc001jlk.2_Missense_Mutation_p.K315M|RHOBTB1_uc009xpe.1_Missense_Mutation_p.K253M|RHOBTB1_uc001jll.2_Missense_Mutation_p.K65M	p.K315M	NM_014836	NP_055651	O94844	RHBT1_HUMAN			7	1382	-	Prostate(12;0.0112)		315			BTB 1.			Missense_Mutation	SNP	ENST00000337910.5	37	c.944A>T	CCDS7261.1	.	.	.	.	.	.	.	.	.	.	T	11.20	1.569741	0.28003	.	.	ENSG00000072422	ENST00000357917;ENST00000337910	T;T	0.15603	2.41;2.41	5.91	2.14	0.27477	BTB/POZ-like (2);BTB/POZ fold (1);	0.315417	0.31461	N	0.007601	T	0.14141	0.0342	L	0.51422	1.61	0.41730	D	0.98955	B	0.14438	0.01	B	0.19148	0.024	T	0.07770	-1.0755	10	0.42905	T	0.14	.	5.6565	0.17644	0.1433:0.14:0.0:0.7167	.	315	O94844	RHBT1_HUMAN	M	315	ENSP00000350595:K315M;ENSP00000338671:K315M	ENSP00000338671:K315M	K	-	2	0	RHOBTB1	62318488	1.000000	0.71417	0.994000	0.49952	0.811000	0.45836	2.293000	0.43558	0.093000	0.17368	0.377000	0.23210	AAG		PASS	0.493	RHOBTB1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048220.1			35	143	35	143	---	---	---	---
ZCCHC24	219654	broad.mit.edu	37	10	81154191	81154191	+	Silent	SNP	G	G	C			TCGA-66-2756-01A-01D-1522-08	TCGA-66-2756-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	472c95e6-eccb-4988-be16-fdace73b2ed8	ff4f5936-f847-42ad-aedf-6a6a7fff6002	g.chr10:81154191G>C	ENST00000372336.3	-	3	639	c.453C>G	c.(451-453)cgC>cgG	p.R151R	ZCCHC24_ENST00000372333.3_Missense_Mutation_p.P92A|RP11-342M3.5_ENST00000438554.2_RNA	NM_153367.3	NP_699198.2	Q8N2G6	ZCH24_HUMAN	zinc finger, CCHC domain containing 24	151							poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)	p.R151R(1)		breast(1)|endometrium(3)|large_intestine(3)|lung(1)|skin(1)	9						CGCCTTTGGGGCGTGCCTACA	0.582																																						uc001kak.2																			1	Substitution - coding silent(1)		lung(1)	breast(1)	1						c.(451-453)CGC>CGG		zinc finger, CCHC domain containing 24							84.0	72.0	76.0					10																	81154191		2203	4300	6503	SO:0001819	synonymous_variant	219654						nucleic acid binding|zinc ion binding	g.chr10:81154191G>C	AK075279	CCDS7359.1	10q22.3	2014-02-20	2008-06-23	2008-06-23	ENSG00000165424	ENSG00000165424		"""Zinc fingers, CCHC domain containing"""	26911	protein-coding gene	gene with protein product	"""zinc finger, 3CxxC-type 8"""		"""chromosome 10 open reading frame 56"""	C10orf56		12477932	Standard	NM_153367		Approved	FLJ90798, Z3CXXC8	uc010qlr.2	Q8N2G6	OTTHUMG00000018561	ENST00000372336.3:c.453C>G	10.37:g.81154191G>C						ZCCHC24_uc010qlr.1_Missense_Mutation_p.P92A|ZCCHC24_uc009xrw.2_RNA	p.R151R	NM_153367	NP_699198	Q8N2G6	ZCH24_HUMAN			3	640	-			151					Q5U5T9|Q8TAG0	Silent	SNP	ENST00000372336.3	37	c.453C>G	CCDS7359.1	.	.	.	.	.	.	.	.	.	.	G	13.46	2.243778	0.39697	.	.	ENSG00000165424	ENST00000372333	.	.	.	5.31	3.34	0.38264	.	.	.	.	.	T	0.33323	0.0859	.	.	.	0.22571	N	0.998973	B	0.27625	0.183	B	0.30782	0.12	T	0.35251	-0.9796	7	0.87932	D	0	-1.7271	5.026	0.14385	0.174:0.3702:0.4558:0.0	.	92	Q5W133	.	A	92	.	ENSP00000361408:P92A	P	-	1	0	ZCCHC24	80824197	0.989000	0.36119	1.000000	0.80357	0.991000	0.79684	0.215000	0.17562	0.538000	0.28769	0.514000	0.50259	CCC		PASS	0.582	ZCCHC24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048947.1	NM_153367		15	100	15	100	---	---	---	---
WAPAL	23063	broad.mit.edu	37	10	88227065	88227065	+	Missense_Mutation	SNP	T	T	C			TCGA-66-2756-01A-01D-1522-08	TCGA-66-2756-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	472c95e6-eccb-4988-be16-fdace73b2ed8	ff4f5936-f847-42ad-aedf-6a6a7fff6002	g.chr10:88227065T>C	ENST00000298767.5	-	9	2813	c.2341A>G	c.(2341-2343)Aac>Gac	p.N781D	WAPAL_ENST00000263070.7_Missense_Mutation_p.N48D|WAPAL_ENST00000372075.1_Missense_Mutation_p.N48D	NM_015045.2	NP_055860.1	Q7Z5K2	WAPL_HUMAN	wings apart-like homolog (Drosophila)	781	WAPL. {ECO:0000255|PROSITE- ProRule:PRU00603}.				mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of chromatin binding (GO:0035562)|negative regulation of DNA replication (GO:0008156)|negative regulation of sister chromatid cohesion (GO:0045875)|positive regulation of fibroblast proliferation (GO:0048146)|protein localization to chromatin (GO:0071168)|regulation of chromosome condensation (GO:0060623)|regulation of cohesin localization to chromatin (GO:0071922)|response to toxic substance (GO:0009636)|viral process (GO:0016032)	chromatin (GO:0000785)|chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|cohesin complex (GO:0008278)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|microtubule cytoskeleton (GO:0015630)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|synaptonemal complex (GO:0000795)		p.N781D(1)		breast(2)|endometrium(2)|kidney(5)|large_intestine(6)|lung(13)|ovary(2)|stomach(1)	31						AGATGCTTGTTGTGTACAGTT	0.373																																						uc001kdo.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(2341-2343)AAC>GAC		wings apart-like homolog							175.0	162.0	167.0					10																	88227065		2203	4300	6503	SO:0001583	missense	23063				cell division|interspecies interaction between organisms|mitosis|negative regulation of chromatin binding|negative regulation of DNA replication|negative regulation of sister chromatid cohesion|protein localization to chromatin|regulation of cohesin localization to chromatin	chromatin|cohesin complex|cytoplasm	protein binding	g.chr10:88227065T>C	AB065003	CCDS7375.1	10q23.31	2006-12-08	2006-03-16	2006-03-16	ENSG00000062650	ENSG00000062650			23293	protein-coding gene	gene with protein product	"""friend of EBNA2"""	610754	"""KIAA0261"""	KIAA0261		9039502, 17112726	Standard	XM_006717726		Approved	FOE, WAPL	uc001kdo.3	Q7Z5K2	OTTHUMG00000018651	ENST00000298767.5:c.2341A>G	10.37:g.88227065T>C	ENSP00000298767:p.Asn781Asp					WAPAL_uc009xsv.2_Missense_Mutation_p.N95D|WAPAL_uc001kdn.2_Missense_Mutation_p.N818D|WAPAL_uc009xsw.2_Missense_Mutation_p.N775D	p.N781D	NM_015045	NP_055860	Q7Z5K2	WAPL_HUMAN			9	2783	-			781			Potential.|WAPL.		A7E2B5|Q5VSK5|Q8IX10|Q92549	Missense_Mutation	SNP	ENST00000298767.5	37	c.2341A>G	CCDS7375.1	.	.	.	.	.	.	.	.	.	.	T	26.1	4.708199	0.89018	.	.	ENSG00000062650	ENST00000342368;ENST00000298767;ENST00000372076;ENST00000372075;ENST00000263070	T	0.45276	0.9	5.99	5.99	0.97316	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.61198	0.2328	M	0.64997	1.995	0.80722	D	1	D;P;D;D	0.76494	0.999;0.851;0.999;0.998	D;P;D;D	0.83275	0.996;0.694;0.996;0.994	T	0.55860	-0.8074	10	0.22109	T	0.4	.	16.4943	0.84223	0.0:0.0:0.0:1.0	.	775;819;781;818	B2RTX8;E9PH12;Q7Z5K2;Q7Z5K2-2	.;.;WAPL_HUMAN;.	D	866;781;866;48;48	ENSP00000298767:N781D	ENSP00000263070:N48D	N	-	1	0	WAPAL	88217045	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.040000	0.89188	2.291000	0.77112	0.533000	0.62120	AAC		PASS	0.373	WAPAL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049151.2	NM_015045		32	70	32	70	---	---	---	---
HOGA1	112817	broad.mit.edu	37	10	99361612	99361612	+	Splice_Site	SNP	A	A	C			TCGA-66-2756-01A-01D-1522-08	TCGA-66-2756-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	472c95e6-eccb-4988-be16-fdace73b2ed8	ff4f5936-f847-42ad-aedf-6a6a7fff6002	g.chr10:99361612A>C	ENST00000370646.4	+	6	1061		c.e6-1		PI4K2A_ENST00000555577.1_Splice_Site|PI4K2A_ENST00000370649.3_Splice_Site|HOGA1_ENST00000370647.4_Splice_Site	NM_138413.3	NP_612422.2	Q86XE5	HOGA1_HUMAN	4-hydroxy-2-oxoglutarate aldolase 1						4-hydroxyproline catabolic process (GO:0019470)|glyoxylate catabolic process (GO:0009436)|glyoxylate metabolic process (GO:0046487)|oxalate metabolic process (GO:0033609)|pyruvate biosynthetic process (GO:0042866)	extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	4-hydroxy-2-oxoglutarate aldolase activity (GO:0008700)|protein homodimerization activity (GO:0042803)	p.?(2)		breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(5)|prostate(2)|skin(1)|stomach(1)	14						TACTTCGTGCAGGAGCTGTGG	0.627																																						uc010qoy.1																			2	Unknown(2)		lung(2)	lung(1)|skin(1)	2						c.e2-2		phosphatidylinositol 4-kinase type 2 alpha							42.0	45.0	44.0					10																	99361612		2203	4300	6503	SO:0001630	splice_region_variant	55361				phosphatidylinositol biosynthetic process	cytoplasm|integral to plasma membrane|membrane raft	1-phosphatidylinositol 4-kinase activity|ATP binding|magnesium ion binding	g.chr10:99361612A>C	BC011916	CCDS7467.1, CCDS44469.1	10q24.1	2010-12-19	2010-12-19	2010-12-19	ENSG00000241935	ENSG00000241935			25155	protein-coding gene	gene with protein product	"""dihydrodipicolinate synthetase homolog 2 (E. coli)"", ""N-acetylneuraminate pyruvate lyase 2 (putative)"""	613597	"""chromosome 10 open reading frame 65"", ""dihydrodipicolinate synthase-like, mitochondrial"""	C10orf65, DHDPSL		20797690	Standard	NM_001134670		Approved	FLJ37472, DHDPS2, NPL2		Q86XE5	OTTHUMG00000018859	ENST00000370646.4:c.701-1A>C	10.37:g.99361612A>C						DHDPSL_uc001kny.2_Splice_Site_p.G234_splice|DHDPSL_uc001knz.2_Splice_Site_p.G71_splice	p.G71_splice	NM_018425	NP_060895	Q9BTU6	P4K2A_HUMAN		Epithelial(162;1.24e-10)|all cancers(201;1.2e-08)	2	571	+		Colorectal(252;0.162)						A8K075|Q5T680|Q5T684|Q711P0|Q8N9F2|Q96EV5	Splice_Site	SNP	ENST00000370646.4	37	c.212_splice	CCDS7467.1	.	.	.	.	.	.	.	.	.	.	A	17.78	3.473021	0.63737	.	.	ENSG00000241935;ENSG00000241935;ENSG00000241935;ENSG00000155252;ENSG00000249967	ENST00000370647;ENST00000370646;ENST00000370642;ENST00000555577;ENST00000370649	.	.	.	5.07	5.07	0.68467	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.126	0.72483	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	PI4K2A;HOGA1;RP11-548K23.11	99351602	1.000000	0.71417	0.999000	0.59377	0.692000	0.40212	8.737000	0.91562	2.046000	0.60703	0.459000	0.35465	.		PASS	0.627	HOGA1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049726.1	NM_138413	Intron	5	23	5	23	---	---	---	---
HPS1	3257	broad.mit.edu	37	10	100195396	100195396	+	Missense_Mutation	SNP	T	T	A			TCGA-66-2756-01A-01D-1522-08	TCGA-66-2756-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	472c95e6-eccb-4988-be16-fdace73b2ed8	ff4f5936-f847-42ad-aedf-6a6a7fff6002	g.chr10:100195396T>A	ENST00000325103.6	-	4	484	c.251A>T	c.(250-252)cAc>cTc	p.H84L	HPS1_ENST00000467246.1_5'UTR|HPS1_ENST00000338546.5_Missense_Mutation_p.H84L|HPS1_ENST00000361490.4_Missense_Mutation_p.H84L	NM_000195.3	NP_000186.2	Q92902	HPS1_HUMAN	Hermansky-Pudlak syndrome 1	84					blood coagulation (GO:0007596)|eye pigmentation (GO:0048069)|lysosome organization (GO:0007040)|melanocyte differentiation (GO:0030318)|positive regulation of natural killer cell activation (GO:0032816)|retina development in camera-type eye (GO:0060041)|secretion of lysosomal enzymes (GO:0033299)|visual perception (GO:0007601)	BLOC-3 complex (GO:0031085)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|integral component of plasma membrane (GO:0005887)|lysosome (GO:0005764)	protein dimerization activity (GO:0046983)	p.H84L(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(9)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	23		Colorectal(252;0.234)		Epithelial(162;3.87e-12)|all cancers(201;5.63e-10)		ACTCACCAGGTGAAGGACATA	0.522									Hermansky-Pudlak syndrome																													uc010qpf.1																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(250-252)CAC>CTC		Hermansky-Pudlak syndrome 1 protein isoform a							110.0	110.0	110.0					10																	100195396		2203	4300	6503	SO:0001583	missense	3257	Hermansky-Pudlak_syndrome	Familial Cancer Database	HPS, HPS1-8	lysosome organization|response to stimulus|visual perception	cytoplasmic membrane-bounded vesicle|integral to plasma membrane|lysosome|membrane fraction|soluble fraction	protein dimerization activity	g.chr10:100195396T>A	U79136	CCDS7475.1, CCDS7476.1	10q23.1-q23.3	2014-06-18		2002-05-01	ENSG00000107521	ENSG00000107521			5163	protein-coding gene	gene with protein product		604982	"""Hermansky-Pudlak syndrome"""	HPS		8541858, 7573033	Standard	NM_182639		Approved		uc021pwv.1	Q92902	OTTHUMG00000018876	ENST00000325103.6:c.251A>T	10.37:g.100195396T>A	ENSP00000326649:p.His84Leu					HPS1_uc001kpi.1_Missense_Mutation_p.H84L|HPS1_uc001kpj.1_Missense_Mutation_p.H24L|HPS1_uc001kpk.1_Missense_Mutation_p.H84L|HPS1_uc009xwb.2_RNA|HPS1_uc010qph.1_Missense_Mutation_p.H84L|HPS1_uc001kpl.2_Missense_Mutation_p.H84L	p.H84L	NM_000195	NP_000186	Q92902	HPS1_HUMAN		Epithelial(162;3.87e-12)|all cancers(201;5.63e-10)	4	497	-		Colorectal(252;0.234)	84					A8MRT2|O15402|O15502|Q5TAA3|Q8WXE5	Missense_Mutation	SNP	ENST00000325103.6	37	c.251A>T	CCDS7475.1	.	.	.	.	.	.	.	.	.	.	T	20.3	3.970570	0.74246	.	.	ENSG00000107521	ENST00000325103;ENST00000361490;ENST00000407891;ENST00000338546	T;T;T	0.29142	1.58;1.58;1.58	4.96	4.96	0.65561	.	0.143577	0.64402	D	0.000007	T	0.53045	0.1772	M	0.77103	2.36	0.58432	D	0.999998	P;D;D;P;D	0.58620	0.919;0.973;0.983;0.919;0.983	P;P;P;P;P	0.60236	0.65;0.65;0.871;0.65;0.871	T	0.59456	-0.7451	10	0.66056	D	0.02	.	14.6435	0.68742	0.0:0.0:0.0:1.0	.	84;84;84;84;84	Q92902;Q92902-3;Q92902-2;Q8WXE5;D3DR62	HPS1_HUMAN;.;.;.;.	L	84	ENSP00000326649:H84L;ENSP00000355310:H84L;ENSP00000343638:H84L	ENSP00000326649:H84L	H	-	2	0	HPS1	100185386	1.000000	0.71417	1.000000	0.80357	0.725000	0.41563	4.508000	0.60441	1.870000	0.54199	0.454000	0.30748	CAC		PASS	0.522	HPS1-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049776.1	NM_000195, NM_182637, NM_182638, NM_182639		39	95	39	95	---	---	---	---
DNMBP	23268	broad.mit.edu	37	10	101715737	101715737	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2756-01A-01D-1522-08	TCGA-66-2756-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	472c95e6-eccb-4988-be16-fdace73b2ed8	ff4f5936-f847-42ad-aedf-6a6a7fff6002	g.chr10:101715737C>A	ENST00000324109.4	-	4	1585	c.1494G>T	c.(1492-1494)caG>caT	p.Q498H	DNMBP-AS1_ENST00000434409.1_RNA|DNMBP_ENST00000342239.3_Missense_Mutation_p.Q498H	NM_015221.2	NP_056036.1	Q6XZF7	DNMBP_HUMAN	dynamin binding protein	498					intracellular signal transduction (GO:0035556)	cell junction (GO:0030054)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|synapse (GO:0045202)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.Q498H(1)		central_nervous_system(1)|cervix(4)|endometrium(9)|large_intestine(14)|lung(19)|ovary(5)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	61		Colorectal(252;0.234)		Epithelial(162;2.94e-10)|all cancers(201;3.15e-08)		GGTTGTGGAGCTGAGGACTTG	0.488																																						uc001kqj.2																			1	Substitution - Missense(1)		lung(1)	ovary(5)|skin(1)	6						c.(1492-1494)CAG>CAT		dynamin binding protein							108.0	115.0	113.0					10																	101715737		2203	4300	6503	SO:0001583	missense	23268				intracellular signal transduction|regulation of Rho protein signal transduction	cell junction|cytoskeleton|Golgi stack|synapse	protein binding|Rho guanyl-nucleotide exchange factor activity	g.chr10:101715737C>A	AL833283	CCDS7485.1	10q24.31	2012-07-24			ENSG00000107554	ENSG00000107554		"""Rho guanine nucleotide exchange factors"""	30373	protein-coding gene	gene with protein product	"""scaffold protein TUBA"""	611282				10231032, 14506234	Standard	NM_015221		Approved	KIAA1010, Tuba, ARHGEF36	uc001kqj.2	Q6XZF7	OTTHUMG00000018897	ENST00000324109.4:c.1494G>T	10.37:g.101715737C>A	ENSP00000315659:p.Gln498His					NCRNA00093_uc001kqk.1_Intron	p.Q498H	NM_015221	NP_056036	Q6XZF7	DNMBP_HUMAN		Epithelial(162;2.94e-10)|all cancers(201;3.15e-08)	4	1586	-		Colorectal(252;0.234)	498					Q8IVY3|Q9Y2L3	Missense_Mutation	SNP	ENST00000324109.4	37	c.1494G>T	CCDS7485.1	.	.	.	.	.	.	.	.	.	.	C	12.77	2.038872	0.35989	.	.	ENSG00000107554	ENST00000342239;ENST00000324109	T;T	0.12465	2.74;2.68	5.92	2.62	0.31277	.	0.297590	0.24191	N	0.040701	T	0.10895	0.0266	L	0.47716	1.5	0.09310	N	0.999999	P	0.44877	0.845	B	0.37780	0.258	T	0.18147	-1.0346	10	0.27785	T	0.31	-4.3755	9.6169	0.39696	0.0:0.6856:0.0:0.3144	.	498	Q6XZF7	DNMBP_HUMAN	H	498	ENSP00000344914:Q498H;ENSP00000315659:Q498H	ENSP00000315659:Q498H	Q	-	3	2	DNMBP	101705727	0.000000	0.05858	0.280000	0.24747	0.068000	0.16541	-0.235000	0.09016	0.829000	0.34733	0.561000	0.74099	CAG		PASS	0.488	DNMBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049832.2	NM_015221		61	116	61	116	---	---	---	---
MGEA5	10724	broad.mit.edu	37	10	103559213	103559213	+	Splice_Site	SNP	C	C	T			TCGA-66-2756-01A-01D-1522-08	TCGA-66-2756-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	472c95e6-eccb-4988-be16-fdace73b2ed8	ff4f5936-f847-42ad-aedf-6a6a7fff6002	g.chr10:103559213C>T	ENST00000361464.3	-	9	1591		c.e9-1		MGEA5_ENST00000439817.1_Splice_Site|MGEA5_ENST00000357797.5_Splice_Site|MGEA5_ENST00000482611.1_5'Flank|MGEA5_ENST00000370094.3_Splice_Site	NM_012215.3	NP_036347.1	O60502	OGA_HUMAN	meningioma expressed antigen 5 (hyaluronidase)						aging (GO:0007568)|dATP metabolic process (GO:0046060)|glycoprotein catabolic process (GO:0006516)|N-acetylglucosamine metabolic process (GO:0006044)|necrotic cell death (GO:0070265)|negative regulation of cardiac muscle adaptation (GO:0010616)|negative regulation of protein glycosylation (GO:0060051)|positive regulation of calcium ion transport into cytosol (GO:0010524)|positive regulation of cell killing (GO:0031343)|positive regulation of DNA metabolic process (GO:0051054)|positive regulation of glucose import (GO:0046326)|positive regulation of growth hormone secretion (GO:0060124)|positive regulation of insulin secretion (GO:0032024)|positive regulation of mitochondrial depolarization (GO:0051901)|positive regulation of protein complex disassembly (GO:0043243)|positive regulation of proteolysis (GO:0045862)|protein targeting to membrane (GO:0006612)|response to steroid hormone (GO:0048545)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	histone acetyltransferase activity (GO:0004402)|hyalurononglucosaminidase activity (GO:0004415)	p.?(1)		central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(11)|ovary(2)|skin(1)|urinary_tract(1)	23		Colorectal(252;0.207)		Epithelial(162;4.67e-09)|all cancers(201;2.54e-07)		ACTTGCCTACCTACAAAAATA	0.348																																						uc001ktv.2																			1	Unknown(1)		lung(1)	ovary(2)|skin(1)	3						c.e9-1		meningioma expressed antigen 5 (hyaluronidase)							59.0	67.0	65.0					10																	103559213		2202	4299	6501	SO:0001630	splice_region_variant	10724				glycoprotein catabolic process	cytoplasm|nucleus	histone acetyltransferase activity|hyalurononglucosaminidase activity	g.chr10:103559213C>T	AF036144	CCDS7520.1, CCDS44471.1	10q24.1-q24.3	2008-08-01			ENSG00000198408	ENSG00000198408			7056	protein-coding gene	gene with protein product	"""nuclear cytoplasmic O-GlcNAcase and acetyltransferase"""	604039				9811929, 16356930	Standard	NM_012215		Approved	MEA5, NCOAT, OGA	uc001ktv.2	O60502	OTTHUMG00000018939	ENST00000361464.3:c.1196-1G>A	10.37:g.103559213C>T						MGEA5_uc001ktu.2_Splice_Site|MGEA5_uc010qqe.1_Splice_Site_p.S346_splice|MGEA5_uc009xws.2_Splice_Site_p.S346_splice|MGEA5_uc001ktw.2_Splice_Site_p.S399_splice|MGEA5_uc009xwt.2_Intron	p.S399_splice	NM_012215	NP_036347	O60502	NCOAT_HUMAN		Epithelial(162;4.67e-09)|all cancers(201;2.54e-07)	9	1639	-		Colorectal(252;0.207)						B7WPB9|D3DR79|E9PGF9|O75166|Q86WV0|Q8IV98|Q9BVA5|Q9HAR0	Splice_Site	SNP	ENST00000361464.3	37	c.1196_splice	CCDS7520.1	.	.	.	.	.	.	.	.	.	.	C	16.82	3.227662	0.58668	.	.	ENSG00000198408	ENST00000439817;ENST00000361464;ENST00000357797;ENST00000370094	.	.	.	6.16	6.16	0.99307	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.8598	0.99761	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	MGEA5	103549203	1.000000	0.71417	1.000000	0.80357	0.685000	0.39939	6.966000	0.76073	2.937000	0.99478	0.650000	0.86243	.		PASS	0.348	MGEA5-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049987.1	NM_012215	Intron	39	69	39	69	---	---	---	---
PPRC1	23082	broad.mit.edu	37	10	103909051	103909051	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2756-01A-01D-1522-08	TCGA-66-2756-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	472c95e6-eccb-4988-be16-fdace73b2ed8	ff4f5936-f847-42ad-aedf-6a6a7fff6002	g.chr10:103909051G>T	ENST00000278070.2	+	13	4895	c.4856G>T	c.(4855-4857)cGa>cTa	p.R1619L	PPRC1_ENST00000413464.2_Missense_Mutation_p.R1355L|NOLC1_ENST00000405356.1_5'Flank|PPRC1_ENST00000370012.1_Missense_Mutation_p.R586L|NOLC1_ENST00000605788.1_5'Flank	NM_015062.3	NP_055877.3	Q5VV67	PPRC1_HUMAN	peroxisome proliferator-activated receptor gamma, coactivator-related 1	1619	RRM. {ECO:0000255|PROSITE- ProRule:PRU00176}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.R1619L(1)		central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(10)|lung(19)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	56		Colorectal(252;0.122)		Epithelial(162;4.97e-08)|all cancers(201;8.99e-07)		TTTGGGGGCCGAAGGCAGTTC	0.552																																						uc001kum.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)|skin(1)	3						c.(4855-4857)CGA>CTA		peroxisome proliferator-activated receptor							85.0	87.0	86.0					10																	103909051		2203	4300	6503	SO:0001583	missense	23082				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleotide binding|RNA binding	g.chr10:103909051G>T	AF325193	CCDS7529.1, CCDS73186.1	10q24.32	2013-02-12	2006-10-17		ENSG00000148840	ENSG00000148840		"""RNA binding motif (RRM) containing"""	30025	protein-coding gene	gene with protein product			"""peroxisome proliferative activated receptor, gamma, coactivator-related 1"""			9628581, 11340167	Standard	XM_005269656		Approved	PRC, KIAA0595, MGC74642	uc001kum.3	Q5VV67	OTTHUMG00000018948	ENST00000278070.2:c.4856G>T	10.37:g.103909051G>T	ENSP00000278070:p.Arg1619Leu					PPRC1_uc001kun.2_Missense_Mutation_p.R1497L|PPRC1_uc010qqj.1_Missense_Mutation_p.R1355L|PPRC1_uc009xxa.2_RNA|NOLC1_uc001kuo.2_5'Flank|NOLC1_uc001kup.2_5'Flank|NOLC1_uc001kuq.2_5'Flank|NOLC1_uc009xxb.1_5'Flank|NOLC1_uc001kur.2_5'Flank	p.R1619L	NM_015062	NP_055877	Q5VV67	PPRC1_HUMAN		Epithelial(162;4.97e-08)|all cancers(201;8.99e-07)	13	4895	+		Colorectal(252;0.122)	1619			RRM.		Q5VV66|Q6P3U5|Q6P3W1|Q76N31|Q9BUJ3|Q9BZE5|Q9Y4E0	Missense_Mutation	SNP	ENST00000278070.2	37	c.4856G>T	CCDS7529.1	.	.	.	.	.	.	.	.	.	.	g	27.5	4.838193	0.91117	.	.	ENSG00000148840	ENST00000278070;ENST00000413464;ENST00000370012	T;T;T	0.47528	1.17;1.61;0.84	5.49	5.49	0.81192	RNA recognition motif domain (1);	0.000000	0.85682	D	0.000000	T	0.67439	0.2893	M	0.64997	1.995	0.58432	D	0.999999	D;D;D	0.89917	1.0;1.0;0.98	D;D;D	0.91635	0.999;0.999;0.953	T	0.63883	-0.6536	10	0.36615	T	0.2	.	19.377	0.94514	0.0:0.0:1.0:0.0	.	1355;1497;1619	E7EVG6;Q5VV67-2;Q5VV67	.;.;PPRC1_HUMAN	L	1619;1355;586	ENSP00000278070:R1619L;ENSP00000399743:R1355L;ENSP00000359029:R586L	ENSP00000278070:R1619L	R	+	2	0	PPRC1	103899041	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	8.009000	0.88606	2.575000	0.86900	0.442000	0.29010	CGA		PASS	0.552	PPRC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050021.1	NM_015062		17	43	17	43	---	---	---	---
ABLIM1	3983	broad.mit.edu	37	10	116331078	116331078	+	Silent	SNP	C	C	A			TCGA-66-2756-01A-01D-1522-08	TCGA-66-2756-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	472c95e6-eccb-4988-be16-fdace73b2ed8	ff4f5936-f847-42ad-aedf-6a6a7fff6002	g.chr10:116331078C>A	ENST00000277895.5	-	4	748	c.651G>T	c.(649-651)ccG>ccT	p.P217P	ABLIM1_ENST00000369252.4_Silent_p.P157P|ABLIM1_ENST00000533213.2_Silent_p.P157P	NM_002313.5	NP_002304.3	O14639	ABLM1_HUMAN	actin binding LIM protein 1	217					axon guidance (GO:0007411)|cilium assembly (GO:0042384)|cytoskeleton organization (GO:0007010)|lamellipodium assembly (GO:0030032)|organ morphogenesis (GO:0009887)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|visual perception (GO:0007601)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|lamellipodium (GO:0030027)|stress fiber (GO:0001725)	actin binding (GO:0003779)|zinc ion binding (GO:0008270)	p.P157P(1)|p.P217P(1)		breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	30		Colorectal(252;0.0373)|Breast(234;0.231)		Epithelial(162;0.0132)|all cancers(201;0.0383)		TGGTTTCTTTCGGACTGGACG	0.552																																						uc010qsg.1																			2	Substitution - coding silent(2)		lung(2)	breast(1)	1						c.(649-651)CCG>CCT		actin-binding LIM protein 1 isoform a							147.0	143.0	145.0					10																	116331078		2203	4300	6503	SO:0001819	synonymous_variant	3983				axon guidance|cytoskeleton organization|organ morphogenesis|visual perception	actin cytoskeleton|cytoplasm	actin binding|zinc ion binding	g.chr10:116331078C>A	AF005654	CCDS7590.1, CCDS31289.1	10q25	2008-07-07		2002-09-13	ENSG00000099204	ENSG00000099204			78	protein-coding gene	gene with protein product		602330		LIMAB1, ABLIM		9245787	Standard	NM_002313		Approved	abLIM, limatin	uc021pyw.1	O14639	OTTHUMG00000019088	ENST00000277895.5:c.651G>T	10.37:g.116331078C>A						ABLIM1_uc010qsh.1_Silent_p.P157P|ABLIM1_uc010qsi.1_Silent_p.P157P|ABLIM1_uc010qsk.1_Silent_p.P141P|ABLIM1_uc009xyp.2_Silent_p.P151P|ABLIM1_uc009xyo.2_Silent_p.P65P	p.P217P	NM_002313	NP_002304	O14639	ABLM1_HUMAN		Epithelial(162;0.0132)|all cancers(201;0.0383)	4	750	-		Colorectal(252;0.0373)|Breast(234;0.231)	217					A6NI16|A6NJ06|A8MXA9|B3KVH2|Q15039|Q5JVV1|Q5JVV2|Q5T6N2|Q5T6N3|Q5T6N5|Q68CQ9|Q9BUP1	Silent	SNP	ENST00000277895.5	37	c.651G>T	CCDS7590.1	.	.	.	.	.	.	.	.	.	.	C	7.677	0.688240	0.14973	.	.	ENSG00000099204	ENST00000392955	.	.	.	5.97	-9.57	0.00562	.	.	.	.	.	T	0.33206	0.0855	.	.	.	0.43222	D	0.995109	.	.	.	.	.	.	T	0.38824	-0.9643	4	.	.	.	.	1.8295	0.03127	0.2785:0.2217:0.3272:0.1726	.	.	.	.	L	126	.	.	R	-	2	0	ABLIM1	116321068	0.000000	0.05858	0.108000	0.21378	0.900000	0.52787	-2.938000	0.00684	-2.403000	0.00577	-2.504000	0.00190	CGA		PASS	0.552	ABLIM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050469.3			3	43	3	43	---	---	---	---
CACUL1	143384	broad.mit.edu	37	10	120460919	120460919	+	Splice_Site	SNP	T	T	C			TCGA-66-2756-01A-01D-1522-08	TCGA-66-2756-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	472c95e6-eccb-4988-be16-fdace73b2ed8	ff4f5936-f847-42ad-aedf-6a6a7fff6002	g.chr10:120460919T>C	ENST00000369151.3	-	5	1178	c.695A>G	c.(694-696)aAt>aGt	p.N232S	CACUL1_ENST00000340214.4_Splice_Site_p.N232S|CACUL1_ENST00000544392.1_5'UTR	NM_153810.4	NP_722517.3	Q86Y37	CACL1_HUMAN	CDK2-associated, cullin domain 1	232					G1/S transition of mitotic cell cycle (GO:0000082)|positive regulation of cell proliferation (GO:0008284)|positive regulation of protein kinase activity (GO:0045860)|ubiquitin-dependent protein catabolic process (GO:0006511)	cullin-RING ubiquitin ligase complex (GO:0031461)	protein kinase binding (GO:0019901)	p.N232S(1)									GTAAAACTTATTCTGAAAAAT	0.299																																						uc001lds.1																			1	Substitution - Missense(1)		lung(1)		0						c.(694-696)AAT>AGT		chromosome 10 open reading frame 46							74.0	66.0	68.0					10																	120460919		1802	4059	5861	SO:0001630	splice_region_variant	143384				ubiquitin-dependent protein catabolic process	cullin-RING ubiquitin ligase complex	ubiquitin protein ligase binding	g.chr10:120460919T>C	AK097728	CCDS41570.1	10q26.13	2012-06-12	2012-06-12	2012-06-12	ENSG00000151893	ENSG00000151893			23727	protein-coding gene	gene with protein product	"""Cdk-Associated Cullin1"""		"""chromosome 10 open reading frame 46"""	C10orf46		19829063	Standard	NM_153810		Approved	FLJ40409, MGC33215, CAC1	uc001lds.1	Q86Y37	OTTHUMG00000019138	ENST00000369151.3:c.694-1A>G	10.37:g.120460919T>C						C10orf46_uc010qst.1_RNA	p.N232S	NM_153810	NP_722517	Q86Y37	CJ046_HUMAN		all cancers(201;0.0131)	5	1179	-		Lung NSC(174;0.142)|all_lung(145;0.175)	232					Q5XPL7|Q8IY11|Q8N7S4	Missense_Mutation	SNP	ENST00000369151.3	37	c.695A>G	CCDS41570.1	.	.	.	.	.	.	.	.	.	.	T	20.6	4.021481	0.75275	.	.	ENSG00000151893	ENST00000544392;ENST00000369156;ENST00000369151;ENST00000340214	T;T	0.79033	-1.23;-1.23	5.29	5.29	0.74685	Cullin, N-terminal (1);Cullin repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.79770	0.4503	L	0.51422	1.61	0.53688	D	0.999973	P	0.48089	0.905	P	0.50825	0.651	T	0.79736	-0.1678	10	0.41790	T	0.15	-22.0455	15.5057	0.75739	0.0:0.0:0.0:1.0	.	232	Q86Y37	CJ046_HUMAN	S	43;109;232;232	ENSP00000358147:N232S;ENSP00000342487:N232S	ENSP00000342487:N232S	N	-	2	0	C10orf46	120450909	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.899000	0.69846	2.127000	0.65507	0.533000	0.62120	AAT		PASS	0.299	CACUL1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000050612.2	NM_153810	Missense_Mutation	19	46	19	46	---	---	---	---
HTRA1	5654	broad.mit.edu	37	10	124271486	124271486	+	Splice_Site	SNP	C	C	A			TCGA-66-2756-01A-01D-1522-08	TCGA-66-2756-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	472c95e6-eccb-4988-be16-fdace73b2ed8	ff4f5936-f847-42ad-aedf-6a6a7fff6002	g.chr10:124271486C>A	ENST00000368984.3	+	8	1307	c.1179C>A	c.(1177-1179)agC>agA	p.S393R		NM_002775.4	NP_002766.1	Q92743	HTRA1_HUMAN	HtrA serine peptidase 1	393	PDZ. {ECO:0000255|PROSITE- ProRule:PRU00143}.				negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|proteolysis (GO:0006508)|regulation of cell growth (GO:0001558)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)	p.S393R(1)		endometrium(1)|kidney(1)|large_intestine(8)|lung(7)	17		all_neural(114;0.0765)|Lung NSC(174;0.133)|all_lung(145;0.163)|Breast(234;0.238)				TCTGGAGCAGCAAAGCCAAAG	0.512																																						uc001lgj.2																			1	Substitution - Missense(1)		lung(1)		0						c.(1177-1179)AGC>AGA		HtrA serine peptidase 1 precursor							78.0	79.0	79.0					10																	124271486		2203	4300	6503	SO:0001630	splice_region_variant	5654				proteolysis|regulation of cell growth	extracellular space	insulin-like growth factor binding|serine-type endopeptidase activity	g.chr10:124271486C>A	AF097709	CCDS7630.1	10q26.3	2014-01-28	2005-08-18	2005-08-18	ENSG00000166033	ENSG00000166033		"""Serine peptidases / Serine peptidases"""	9476	protein-coding gene	gene with protein product		602194	"""protease, serine, 11 (IGF binding)"""	PRSS11		8977104	Standard	NM_002775		Approved	HtrA, IGFBP5-protease, ARMD7	uc001lgj.2	Q92743	OTTHUMG00000019186	ENST00000368984.3:c.1179-1C>A	10.37:g.124271486C>A							p.S393R	NM_002775	NP_002766	Q92743	HTRA1_HUMAN			8	1307	+		all_neural(114;0.0765)|Lung NSC(174;0.133)|all_lung(145;0.163)|Breast(234;0.238)	393			PDZ.		D3DRE4|Q9UNS5	Missense_Mutation	SNP	ENST00000368984.3	37	c.1179C>A	CCDS7630.1	.	.	.	.	.	.	.	.	.	.	C	13.43	2.235884	0.39498	.	.	ENSG00000166033	ENST00000368984;ENST00000435263;ENST00000420892	T;T	0.34072	1.38;1.38	5.33	4.32	0.51571	PDZ/DHR/GLGF (4);	0.157292	0.64402	D	0.000018	T	0.30947	0.0781	L	0.42632	1.34	0.47659	D	0.999483	B	0.24317	0.101	B	0.36335	0.222	T	0.13072	-1.0523	9	.	.	.	.	6.0227	0.19638	0.0:0.6535:0.1866:0.1599	.	393	Q92743	HTRA1_HUMAN	R	393;360;134	ENSP00000357980:S393R;ENSP00000412676:S134R	.	S	+	3	2	HTRA1	124261476	1.000000	0.71417	1.000000	0.80357	0.888000	0.51559	0.996000	0.29719	2.483000	0.83821	0.561000	0.74099	AGC		PASS	0.512	HTRA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128327.1	NM_002775	Missense_Mutation	23	53	23	53	---	---	---	---
C10orf90	118611	broad.mit.edu	37	10	128153489	128153489	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2756-01A-01D-1522-08	TCGA-66-2756-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	472c95e6-eccb-4988-be16-fdace73b2ed8	ff4f5936-f847-42ad-aedf-6a6a7fff6002	g.chr10:128153489G>T	ENST00000284694.7	-	4	1430	c.1310C>A	c.(1309-1311)gCt>gAt	p.A437D	C10orf90_ENST00000544758.1_Missense_Mutation_p.A534D|C10orf90_ENST00000454341.1_Intron|C10orf90_ENST00000356858.3_Missense_Mutation_p.A390D|C10orf90_ENST00000480379.1_5'Flank	NM_001004298.2	NP_001004298.2	Q96M02	CJ090_HUMAN	chromosome 10 open reading frame 90	437					mitotic G2 DNA damage checkpoint (GO:0007095)|negative regulation of cell growth (GO:0030308)|protein stabilization (GO:0050821)|response to ionizing radiation (GO:0010212)|response to UV (GO:0009411)	actin cytoskeleton (GO:0015629)|centrosome (GO:0005813)|cytoplasm (GO:0005737)		p.A437D(1)		NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(19)|liver(1)|lung(29)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	65		all_epithelial(44;4.51e-05)|all_lung(145;0.0068)|Lung NSC(174;0.0105)|Colorectal(57;0.0848)|all_neural(114;0.0936)|Breast(234;0.203)		COAD - Colon adenocarcinoma(40;0.0442)|Colorectal(40;0.0479)		CACTGGAGGAGCAGACACAGT	0.453																																						uc001ljq.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(1309-1311)GCT>GAT		hypothetical protein LOC118611							122.0	114.0	117.0					10																	128153489		2203	4300	6503	SO:0001583	missense	118611							g.chr10:128153489G>T	BC034828	CCDS31310.1	10q26.2	2012-05-31			ENSG00000154493	ENSG00000154493			26563	protein-coding gene	gene with protein product	"""fragile-site associated tumor suppressor"""					20843368, 20154723	Standard	NM_001004298		Approved	FLJ32938, bA422P15.2, FATS	uc001ljq.3	Q96M02	OTTHUMG00000019245	ENST00000284694.7:c.1310C>A	10.37:g.128153489G>T	ENSP00000284694:p.Ala437Asp					C10orf90_uc001ljp.2_Intron|C10orf90_uc010qum.1_Missense_Mutation_p.A534D|C10orf90_uc009yao.2_3'UTR|C10orf90_uc001ljo.2_5'Flank	p.A437D	NM_001004298	NP_001004298	Q96M02	CJ090_HUMAN		COAD - Colon adenocarcinoma(40;0.0442)|Colorectal(40;0.0479)	4	1431	-		all_epithelial(44;4.51e-05)|all_lung(145;0.0068)|Lung NSC(174;0.0105)|Colorectal(57;0.0848)|all_neural(114;0.0936)|Breast(234;0.203)	437					B9EIQ9|Q5JRP6|Q5T023|Q8NCV5|Q8WU75	Missense_Mutation	SNP	ENST00000284694.7	37	c.1310C>A	CCDS31310.1	.	.	.	.	.	.	.	.	.	.	G	12.73	2.026981	0.35797	.	.	ENSG00000154493	ENST00000356858;ENST00000284694;ENST00000544758;ENST00000432642	T;T;T	0.26518	1.74;1.78;1.73	4.34	3.44	0.39384	.	0.000000	0.46442	D	0.000299	T	0.42810	0.1219	M	0.65498	2.005	0.52501	D	0.999957	D;D	0.76494	0.999;0.989	D;P	0.70016	0.967;0.858	T	0.32561	-0.9902	10	0.87932	D	0	-2.5997	6.5835	0.22609	0.2121:0.0:0.7879:0.0	.	534;437	F5GZL2;Q96M02	.;CJ090_HUMAN	D	390;437;534;437	ENSP00000284694:A437D;ENSP00000444369:A534D;ENSP00000405995:A437D	ENSP00000284694:A437D	A	-	2	0	C10orf90	128143479	0.991000	0.36638	0.946000	0.38457	0.249000	0.25844	2.607000	0.46300	1.054000	0.40438	-0.154000	0.13518	GCT		PASS	0.453	C10orf90-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001004298		34	61	34	61	---	---	---	---
TUBGCP2	10844	broad.mit.edu	37	10	135112994	135112994	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2756-01A-01D-1522-08	TCGA-66-2756-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	472c95e6-eccb-4988-be16-fdace73b2ed8	ff4f5936-f847-42ad-aedf-6a6a7fff6002	g.chr10:135112994C>A	ENST00000252936.3	-	3	432	c.393G>T	c.(391-393)atG>atT	p.M131I	TUBGCP2_ENST00000543663.1_Missense_Mutation_p.M131I|TUBGCP2_ENST00000417178.2_Start_Codon_SNP_p.M1I|TUBGCP2_ENST00000368563.2_Missense_Mutation_p.M131I|TUBGCP2_ENST00000470829.1_5'UTR			Q9BSJ2	GCP2_HUMAN	tubulin, gamma complex associated protein 2	131					G2/M transition of mitotic cell cycle (GO:0000086)|microtubule nucleation (GO:0007020)|mitotic cell cycle (GO:0000278)|protein complex assembly (GO:0006461)	centrosome (GO:0005813)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)|spindle pole (GO:0000922)		p.M131I(1)		breast(2)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(16)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	35		all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;8.87e-06)|all cancers(32;8.98e-06)|Epithelial(32;1.15e-05)		CAAGCTCCTGCATGGAGATCT	0.597																																						uc001lmg.1																			1	Substitution - Missense(1)		lung(1)		0						c.(391-393)ATG>ATT		tubulin, gamma complex associated protein 2							70.0	59.0	63.0					10																	135112994		2203	4300	6503	SO:0001583	missense	10844				G2/M transition of mitotic cell cycle|microtubule nucleation|protein complex assembly	centrosome|cytoplasmic microtubule|cytosol|spindle pole	protein binding	g.chr10:135112994C>A	AF042379	CCDS7676.1, CCDS58104.1, CCDS58105.1	10q26.3	2008-07-28			ENSG00000130640	ENSG00000130640			18599	protein-coding gene	gene with protein product						9566967	Standard	NM_001256617		Approved	GCP2, Spc97p, SPBC97	uc010qvc.2	Q9BSJ2	OTTHUMG00000019319	ENST00000252936.3:c.393G>T	10.37:g.135112994C>A	ENSP00000252936:p.Met131Ile					TUBGCP2_uc010qvc.1_Missense_Mutation_p.M131I|TUBGCP2_uc009ybk.1_Missense_Mutation_p.M131I|TUBGCP2_uc010qvd.1_Missense_Mutation_p.M1I|TUBGCP2_uc001lmh.1_RNA	p.M131I	NM_006659	NP_006650	Q9BSJ2	GCP2_HUMAN		OV - Ovarian serous cystadenocarcinoma(35;8.87e-06)|all cancers(32;8.98e-06)|Epithelial(32;1.15e-05)	4	750	-		all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)	131					B4DM18|B7ZKL8|F5H4E0|F5H4L0|O43632|Q5VWX7	Missense_Mutation	SNP	ENST00000252936.3	37	c.393G>T	CCDS7676.1	.	.	.	.	.	.	.	.	.	.	C	17.13	3.310954	0.60414	.	.	ENSG00000130640	ENST00000252936;ENST00000417178;ENST00000368563;ENST00000543663	T;T;T;T	0.16457	2.56;2.34;2.56;2.52	5.42	3.55	0.40652	.	0.300125	0.41194	D	0.000940	T	0.13927	0.0337	L	0.42245	1.32	0.80722	D	1	B;B;B	0.11235	0.004;0.002;0.001	B;B;B	0.12156	0.007;0.003;0.002	T	0.06356	-1.0831	10	0.36615	T	0.2	-20.6446	7.8046	0.29195	0.0:0.7408:0.0:0.2592	.	131;131;131	F5H4L0;B7ZKL8;Q9BSJ2	.;.;GCP2_HUMAN	I	131;1;131;131	ENSP00000252936:M131I;ENSP00000395666:M1I;ENSP00000357551:M131I;ENSP00000446093:M131I	ENSP00000252936:M131I	M	-	3	0	TUBGCP2	134962984	1.000000	0.71417	0.982000	0.44146	0.997000	0.91878	1.533000	0.36040	0.766000	0.33244	0.655000	0.94253	ATG		PASS	0.597	TUBGCP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051148.1			29	28	29	28	---	---	---	---
FRG2B	441581	broad.mit.edu	37	10	135440163	135440163	+	Silent	SNP	G	G	T			TCGA-66-2756-01A-01D-1522-08	TCGA-66-2756-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	472c95e6-eccb-4988-be16-fdace73b2ed8	ff4f5936-f847-42ad-aedf-6a6a7fff6002	g.chr10:135440163G>T	ENST00000425520.1	-	1	136	c.84C>A	c.(82-84)tcC>tcA	p.S28S	FRG2B_ENST00000443774.1_Silent_p.S28S	NM_001080998.1	NP_001074467.1	Q96QU4	FRG2B_HUMAN	FSHD region gene 2 family, member B	28						nucleus (GO:0005634)		p.S28S(1)		endometrium(2)|kidney(2)|lung(14)|ovary(1)|prostate(1)	20		all_cancers(35;7.01e-07)|all_epithelial(44;1.45e-05)|Lung NSC(174;0.027)|all_lung(145;0.0384)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)		OV - Ovarian serous cystadenocarcinoma(35;1.12e-06)|all cancers(32;1.43e-06)|Epithelial(32;1.71e-06)		TTTCTGTAAAGGAGATCTGTT	0.488																																						uc010qvg.1																			1	Substitution - coding silent(1)		lung(1)		0						c.(82-84)TCC>TCA		FSHD region gene 2 family, member B							29.0	40.0	36.0					10																	135440163		2077	4165	6242	SO:0001819	synonymous_variant	441581					nucleus		g.chr10:135440163G>T	AY744466	CCDS44502.1	10q26.3	2012-10-02			ENSG00000225899	ENSG00000225899			33518	protein-coding gene	gene with protein product						15520407	Standard	NM_001080998		Approved		uc010qvg.2	Q96QU4	OTTHUMG00000019328	ENST00000425520.1:c.84C>A	10.37:g.135440163G>T							p.S28S	NM_001080998	NP_001074467	Q96QU4	FRG2B_HUMAN		OV - Ovarian serous cystadenocarcinoma(35;1.12e-06)|all cancers(32;1.43e-06)|Epithelial(32;1.71e-06)	1	137	-		all_cancers(35;7.01e-07)|all_epithelial(44;1.45e-05)|Lung NSC(174;0.027)|all_lung(145;0.0384)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)	28					Q5VSQ1	Silent	SNP	ENST00000425520.1	37	c.84C>A	CCDS44502.1																																																																																				PASS	0.488	FRG2B-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000467780.1	NM_001080998		9	241	9	241	---	---	---	---
RASSF7	8045	broad.mit.edu	37	11	562207	562207	+	Missense_Mutation	SNP	A	A	G			TCGA-66-2756-01A-01D-1522-08	TCGA-66-2756-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	472c95e6-eccb-4988-be16-fdace73b2ed8	ff4f5936-f847-42ad-aedf-6a6a7fff6002	g.chr11:562207A>G	ENST00000397583.3	+	3	686	c.253A>G	c.(253-255)Agg>Ggg	p.R85G	RP11-496I9.1_ENST00000527113.1_RNA|RASSF7_ENST00000397582.3_Missense_Mutation_p.R85G|RP11-496I9.1_ENST00000527620.1_RNA|C11orf35_ENST00000329451.3_5'Flank|RASSF7_ENST00000431809.1_Missense_Mutation_p.R85G|RASSF7_ENST00000344375.4_Missense_Mutation_p.R85G|RASSF7_ENST00000454668.2_Missense_Mutation_p.R85G|RASSF7_ENST00000524468.1_3'UTR	NM_003475.3	NP_003466.1	Q02833	RASF7_HUMAN	Ras association (RalGDS/AF-6) domain family (N-terminal) member 7	85	Ras-associating. {ECO:0000255|PROSITE- ProRule:PRU00166}.				apoptotic process (GO:0006915)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)		p.R85G(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(3)|skin(3)	8		all_cancers(49;2.16e-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;7.18e-28)|Epithelial(43;6.93e-27)|OV - Ovarian serous cystadenocarcinoma(40;6.97e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)		GTTTGTCCTGAGGCGCACAGG	0.657																																					Pancreas(184;1170 3913 7268)	uc001lqc.2																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(253-255)AGG>GGG		Ras association (RalGDS/AF-6) domain family							46.0	45.0	45.0					11																	562207		2203	4300	6503	SO:0001583	missense	8045				regulation of transcription, DNA-dependent|signal transduction	nucleus	DNA binding|protein binding	g.chr11:562207A>G	M91083	CCDS7702.1, CCDS44505.1, CCDS44506.1	11p15.5	2008-02-22	2008-02-22	2005-09-14	ENSG00000099849	ENSG00000099849			1166	protein-coding gene	gene with protein product		143023	"""chromosome 11 open reading frame 13"""	C11orf13		1339391	Standard	NM_001143993		Approved	HRC1, HRAS1	uc001lqc.3	Q02833	OTTHUMG00000132004	ENST00000397583.3:c.253A>G	11.37:g.562207A>G	ENSP00000380713:p.Arg85Gly					C11orf35_uc001lpx.2_5'Flank|RASSF7_uc001lqa.2_Missense_Mutation_p.R85G|RASSF7_uc001lqb.2_Missense_Mutation_p.R85G|RASSF7_uc001lqd.2_Missense_Mutation_p.R85G	p.R85G	NM_003475	NP_003466	Q02833	RASF7_HUMAN		all cancers(45;7.18e-28)|Epithelial(43;6.93e-27)|OV - Ovarian serous cystadenocarcinoma(40;6.97e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)	3	288	+		all_cancers(49;2.16e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)	85			Ras-associating.		G5E9N9|Q3KP41|Q3KP42	Missense_Mutation	SNP	ENST00000397583.3	37	c.253A>G	CCDS7702.1	.	.	.	.	.	.	.	.	.	.	A	16.81	3.226754	0.58668	.	.	ENSG00000099849	ENST00000431809;ENST00000397582;ENST00000344375;ENST00000397583;ENST00000454668	T;T;T;T;T	0.22743	1.94;1.94;1.94;1.94;1.94	3.81	-0.284	0.12870	Ras-association (3);	0.059566	0.64402	D	0.000004	T	0.42899	0.1223	M	0.80746	2.51	0.54753	D	0.999984	D;D;D	0.69078	0.996;0.997;0.996	P;D;P	0.65573	0.895;0.936;0.895	T	0.49960	-0.8883	10	0.66056	D	0.02	-0.044	13.1747	0.59619	0.5255:0.4745:0.0:0.0	.	85;85;85	G5E9N9;Q02833;Q02833-2	.;RASF7_HUMAN;.	G	85	ENSP00000403068:R85G;ENSP00000380712:R85G;ENSP00000344226:R85G;ENSP00000380713:R85G;ENSP00000405606:R85G	ENSP00000344226:R85G	R	+	1	2	RASSF7	552207	1.000000	0.71417	1.000000	0.80357	0.769000	0.43574	1.655000	0.37345	0.079000	0.16929	-0.488000	0.04728	AGG		PASS	0.657	RASSF7-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254972.2	NM_003475		21	38	21	38	---	---	---	---
MUC6	4588	broad.mit.edu	37	11	1016849	1016849	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2756-01A-01D-1522-08	TCGA-66-2756-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	472c95e6-eccb-4988-be16-fdace73b2ed8	ff4f5936-f847-42ad-aedf-6a6a7fff6002	g.chr11:1016849C>A	ENST00000421673.2	-	31	6002	c.5952G>T	c.(5950-5952)atG>atT	p.M1984I		NM_005961.2	NP_005952.2	Q6W4X9	MUC6_HUMAN	mucin 6, oligomeric mucus/gel-forming	1984	Thr-rich.				cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular region (GO:0005576)|Golgi lumen (GO:0005796)	extracellular matrix structural constituent (GO:0005201)	p.M1984I(2)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(10)|large_intestine(6)|lung(43)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	80		all_cancers(49;3.3e-08)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		ATGTTGCAGTCATAGGACCTG	0.582																																						uc001lsw.2																			2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(5950-5952)ATG>ATT		mucin 6, gastric							1544.0	1533.0	1537.0					11																	1016849		2203	4298	6501	SO:0001583	missense	4588				maintenance of gastrointestinal epithelium	extracellular region	extracellular matrix structural constituent	g.chr11:1016849C>A	U97698, AY312160	CCDS44513.1	11p15.5	2008-02-05	2006-03-14		ENSG00000184956	ENSG00000184956		"""Mucins"""	7517	protein-coding gene	gene with protein product		158374	"""mucin 6, gastric"""			7680650	Standard	NM_005961		Approved		uc001lsw.2	Q6W4X9	OTTHUMG00000165140	ENST00000421673.2:c.5952G>T	11.37:g.1016849C>A	ENSP00000406861:p.Met1984Ile						p.M1984I	NM_005961	NP_005952	Q6W4X9	MUC6_HUMAN		all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	31	6003	-		all_cancers(49;3.3e-08)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)	1984			Thr-rich.		O15329|Q14394|Q2TUQ5|Q4L207|Q8N8I1|Q8NAK1	Missense_Mutation	SNP	ENST00000421673.2	37	c.5952G>T	CCDS44513.1	.	.	.	.	.	.	.	.	.	.	c	0.446	-0.896076	0.02472	.	.	ENSG00000184956	ENST00000421673	T	0.17691	2.26	2.64	-5.29	0.02747	.	.	.	.	.	T	0.09598	0.0236	L	0.43152	1.355	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.27839	-1.0062	9	0.14656	T	0.56	.	1.5757	0.02624	0.1743:0.1847:0.3717:0.2692	.	1984	Q6W4X9	MUC6_HUMAN	I	1984	ENSP00000406861:M1984I	ENSP00000406861:M1984I	M	-	3	0	MUC6	1006849	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-1.496000	0.02291	-4.003000	0.00082	-2.547000	0.00178	ATG		PASS	0.582	MUC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382120.2	XM_290540		17	670	17	670	---	---	---	---
MUC5B	727897	broad.mit.edu	37	11	1268797	1268797	+	Missense_Mutation	SNP	A	A	G			TCGA-66-2756-01A-01D-1522-08	TCGA-66-2756-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	472c95e6-eccb-4988-be16-fdace73b2ed8	ff4f5936-f847-42ad-aedf-6a6a7fff6002	g.chr11:1268797A>G	ENST00000529681.1	+	31	10745	c.10687A>G	c.(10687-10689)Ata>Gta	p.I3563V	RP11-532E4.2_ENST00000532061.2_RNA|MUC5B_ENST00000447027.1_Missense_Mutation_p.I3566V	NM_002458.2	NP_002449.2	Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	3563	7 X Cys-rich subdomain repeats.|Thr-rich.			Missing (in Ref. 6; AAB61398). {ECO:0000305}.	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.I3542V(1)|p.I3563V(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)		ATCGGCCCCCATAACCACGGT	0.687																																						uc009ycr.1																			2	Substitution - Missense(2)		lung(2)		0						c.(12271-12273)ATA>GTA		SubName: Full=Mucin 5AC, oligomeric mucus/gel-forming;							31.0	47.0	42.0					11																	1268797		1948	4126	6074	SO:0001583	missense	727897				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding	g.chr11:1268797A>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.10687A>G	11.37:g.1268797A>G	ENSP00000436812:p.Ile3563Val					MUC5B_uc001ltb.2_Missense_Mutation_p.I3566V	p.I4091V	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)	50	12397	+		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)	3563	Missing (in Ref. 6; AAB61398).		7 X Cys-rich subdomain repeats.|Thr-rich.|HAT 2.		O00447|O00573|O14985|O15494|O95291|O95451|Q14881|Q7M4S5|Q99552|Q9UE28	Missense_Mutation	SNP	ENST00000529681.1	37	c.12271A>G	CCDS44515.2	.	.	.	.	.	.	.	.	.	.	a	1.812	-0.474465	0.04414	.	.	ENSG00000117983	ENST00000529681;ENST00000447027;ENST00000349637;ENST00000406844	T;T	0.15487	2.42;2.61	2.46	-4.91	0.03085	.	.	.	.	.	T	0.09069	0.0224	N	0.08118	0	0.09310	N	1	P;B	0.38565	0.637;0.0	P;B	0.46510	0.519;0.001	T	0.22626	-1.0211	9	0.87932	D	0	.	0.0667	0.00018	0.2572:0.2257:0.1913:0.3258	.	4091;3566	A7Y9J9;E9PBJ0	.;.	V	3563;3566;3535;3468	ENSP00000436812:I3563V;ENSP00000415793:I3566V	ENSP00000343037:I3535V	I	+	1	0	MUC5B	1225373	0.003000	0.15002	0.000000	0.03702	0.001000	0.01503	0.616000	0.24344	-2.342000	0.00624	-0.425000	0.05940	ATA		PASS	0.687	MUC5B-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000390041.2	XM_001126093		3	48	3	48	---	---	---	---
TH	7054	broad.mit.edu	37	11	2189848	2189848	+	Silent	SNP	C	C	T			TCGA-66-2756-01A-01D-1522-08	TCGA-66-2756-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	472c95e6-eccb-4988-be16-fdace73b2ed8	ff4f5936-f847-42ad-aedf-6a6a7fff6002	g.chr11:2189848C>T	ENST00000381178.1	-	4	471	c.453G>A	c.(451-453)agG>agA	p.R151R	TH_ENST00000352909.3_Silent_p.R120R|TH_ENST00000381175.1_Silent_p.R147R|TH_ENST00000333684.5_Silent_p.R124R	NM_199292.2	NP_954986.2	P07101	TY3H_HUMAN	tyrosine hydroxylase	151					anatomical structure morphogenesis (GO:0009653)|catecholamine biosynthetic process (GO:0042423)|cellular nitrogen compound metabolic process (GO:0034641)|cellular response to drug (GO:0035690)|cellular response to glucose stimulus (GO:0071333)|cellular response to growth factor stimulus (GO:0071363)|cellular response to manganese ion (GO:0071287)|cellular response to nicotine (GO:0071316)|cerebral cortex development (GO:0021987)|circadian sleep/wake cycle (GO:0042745)|dopamine biosynthetic process (GO:0042416)|dopamine biosynthetic process from tyrosine (GO:0006585)|eating behavior (GO:0042755)|embryonic camera-type eye morphogenesis (GO:0048596)|epinephrine biosynthetic process (GO:0042418)|eye photoreceptor cell development (GO:0042462)|fatty acid metabolic process (GO:0006631)|glycoside metabolic process (GO:0016137)|heart development (GO:0007507)|heart morphogenesis (GO:0003007)|isoquinoline alkaloid metabolic process (GO:0033076)|learning (GO:0007612)|locomotory behavior (GO:0007626)|mating behavior (GO:0007617)|memory (GO:0007613)|multicellular organismal aging (GO:0010259)|neurotransmitter biosynthetic process (GO:0042136)|norepinephrine biosynthetic process (GO:0042421)|organ morphogenesis (GO:0009887)|phthalate metabolic process (GO:0018963)|phytoalexin metabolic process (GO:0052314)|pigmentation (GO:0043473)|regulation of heart contraction (GO:0008016)|response to activity (GO:0014823)|response to amphetamine (GO:0001975)|response to corticosterone (GO:0051412)|response to electrical stimulus (GO:0051602)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to ether (GO:0045472)|response to herbicide (GO:0009635)|response to hypoxia (GO:0001666)|response to light stimulus (GO:0009416)|response to lipopolysaccharide (GO:0032496)|response to nutrient levels (GO:0031667)|response to peptide hormone (GO:0043434)|response to pyrethroid (GO:0046684)|response to salt stress (GO:0009651)|response to water deprivation (GO:0009414)|response to zinc ion (GO:0010043)|sensory perception of sound (GO:0007605)|small molecule metabolic process (GO:0044281)|social behavior (GO:0035176)|sphingolipid metabolic process (GO:0006665)|synaptic transmission, dopaminergic (GO:0001963)|synaptic vesicle amine transport (GO:0015842)|terpene metabolic process (GO:0042214)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|dendrite (GO:0030425)|melanosome membrane (GO:0033162)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|perikaryon (GO:0043204)|smooth endoplasmic reticulum (GO:0005790)|synaptic vesicle (GO:0008021)|terminal bouton (GO:0043195)	amino acid binding (GO:0016597)|dopamine binding (GO:0035240)|enzyme binding (GO:0019899)|ferric iron binding (GO:0008199)|ferrous iron binding (GO:0008198)|oxygen binding (GO:0019825)|tetrahydrobiopterin binding (GO:0034617)|tyrosine 3-monooxygenase activity (GO:0004511)	p.R151R(1)		NS(1)|endometrium(1)|large_intestine(1)|lung(7)|skin(1)	11		all_epithelial(84;1.46e-23)|Lung NSC(207;4.44e-11)|all_lung(207;1.11e-09)|Ovarian(85;1.78e-06)|Breast(177;1.78e-05)|Medulloblastoma(188;0.0208)|all_neural(188;0.0416)	Colorectal(5;0.00245)|COAD - Colon adenocarcinoma(6;0.0239)	BRCA - Breast invasive adenocarcinoma(625;8.45e-09)|Lung(200;0.000152)|LUSC - Lung squamous cell carcinoma(625;0.00154)	L-Phenylalanine(DB00120)|L-Tyrosine(DB00135)|Metyrosine(DB00765)|Tetrahydrobiopterin(DB00360)	CAGCTCGCGGCCTCTGGGCGG	0.627																																						uc001lvq.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(451-453)AGG>AGA		tyrosine hydroxylase isoform a	L-Phenylalanine(DB00120)|L-Tyrosine(DB00135)|Metyrosine(DB00765)|Tetrahydrobiopterin(DB00360)						11.0	15.0	14.0					11																	2189848		2173	4286	6459	SO:0001819	synonymous_variant	7054				dopamine biosynthetic process from tyrosine|embryonic camera-type eye morphogenesis|epinephrine biosynthetic process|eye photoreceptor cell development|heart morphogenesis|hormone biosynthetic process|learning|locomotory behavior|memory|neurotransmitter biosynthetic process|neurotransmitter secretion|norepinephrine biosynthetic process|pigmentation|regulation of heart contraction|response to ethanol|response to hypoxia|synaptic transmission, dopaminergic|visual perception	cytosol|internal side of plasma membrane|melanosome membrane|nucleus|perikaryon|smooth endoplasmic reticulum	protein binding|tyrosine 3-monooxygenase activity	g.chr11:2189848C>T	X05290	CCDS7730.1, CCDS7731.1, CCDS31338.1	11p15.5	2013-06-03			ENSG00000180176	ENSG00000180176	1.14.16.2		11782	protein-coding gene	gene with protein product	"""tyrosine 3-monooxygenase"""	191290					Standard	NM_199292		Approved	DYT5b	uc001lvq.3	P07101	OTTHUMG00000009559	ENST00000381178.1:c.453G>A	11.37:g.2189848C>T						TH_uc001lvp.2_Silent_p.R147R|TH_uc001lvr.2_Silent_p.R120R|TH_uc010qxj.1_Silent_p.R124R|TH_uc001lvs.2_Silent_p.R120R|TH_uc001lvt.2_Silent_p.R124R|TH_uc009ydh.1_5'Flank	p.R151R	NM_199292	NP_954986	P07101	TY3H_HUMAN	Colorectal(5;0.00245)|COAD - Colon adenocarcinoma(6;0.0239)	BRCA - Breast invasive adenocarcinoma(625;8.45e-09)|Lung(200;0.000152)|LUSC - Lung squamous cell carcinoma(625;0.00154)	4	472	-		all_epithelial(84;1.46e-23)|Lung NSC(207;4.44e-11)|all_lung(207;1.11e-09)|Ovarian(85;1.78e-06)|Breast(177;1.78e-05)|Medulloblastoma(188;0.0208)|all_neural(188;0.0416)	151					B7ZL70|B7ZL73|Q0PWM2|Q0PWM3|Q15585|Q15588|Q15589|Q2M3B4	Silent	SNP	ENST00000381178.1	37	c.453G>A	CCDS7731.1																																																																																				PASS	0.627	TH-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000026597.1	NM_000360		14	20	14	20	---	---	---	---
OR52K1	390036	broad.mit.edu	37	11	4510178	4510178	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2756-01A-01D-1522-08	TCGA-66-2756-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	472c95e6-eccb-4988-be16-fdace73b2ed8	ff4f5936-f847-42ad-aedf-6a6a7fff6002	g.chr11:4510178G>T	ENST00000307632.3	+	1	70	c.48G>T	c.(46-48)ttG>ttT	p.L16F		NM_001005171.2	NP_001005171.2	Q8NGK4	O52K1_HUMAN	olfactory receptor, family 52, subfamily K, member 1	16						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.L16F(1)		breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(18)|skin(2)|stomach(1)	32		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;1.76e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0836)|LUSC - Lung squamous cell carcinoma(625;0.192)		TCTTTTTGTTGGTAGGAATTC	0.463																																						uc001lza.1																			1	Substitution - Missense(1)		lung(1)		0						c.(46-48)TTG>TTT		olfactory receptor, family 52, subfamily K,							180.0	172.0	175.0					11																	4510178		2201	4298	6499	SO:0001583	missense	390036				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:4510178G>T	AB065790	CCDS31352.1	11p15.4	2012-08-09			ENSG00000196778	ENSG00000196778		"""GPCR / Class A : Olfactory receptors"""	15222	protein-coding gene	gene with protein product							Standard	NM_001005171		Approved		uc001lza.2	Q8NGK4	OTTHUMG00000165705	ENST00000307632.3:c.48G>T	11.37:g.4510178G>T	ENSP00000302422:p.Leu16Phe						p.L16F	NM_001005171	NP_001005171	Q8NGK4	O52K1_HUMAN		Epithelial(150;1.76e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0836)|LUSC - Lung squamous cell carcinoma(625;0.192)	1	48	+		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)	16			Extracellular (Potential).		B9EH54|Q6IFK5	Missense_Mutation	SNP	ENST00000307632.3	37	c.48G>T	CCDS31352.1	.	.	.	.	.	.	.	.	.	.	G	13.81	2.348585	0.41599	.	.	ENSG00000196778	ENST00000307632	T	0.00554	6.64	3.83	0.776	0.18532	.	0.000000	0.34362	N	0.004021	T	0.01730	0.0055	M	0.81682	2.555	0.09310	N	1	D	0.89917	1.0	D	0.85130	0.997	T	0.28933	-1.0028	10	0.87932	D	0	.	7.895	0.29702	0.3094:0.0:0.6906:0.0	.	16	Q8NGK4	O52K1_HUMAN	F	16	ENSP00000302422:L16F	ENSP00000302422:L16F	L	+	3	2	OR52K1	4466754	0.516000	0.26218	0.035000	0.18076	0.915000	0.54546	1.020000	0.30027	0.169000	0.19679	0.603000	0.83216	TTG		PASS	0.463	OR52K1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385846.1	NM_001005171		96	147	96	147	---	---	---	---
OR56A1	120796	broad.mit.edu	37	11	6048656	6048656	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2756-01A-01D-1522-08	TCGA-66-2756-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	472c95e6-eccb-4988-be16-fdace73b2ed8	ff4f5936-f847-42ad-aedf-6a6a7fff6002	g.chr11:6048656C>G	ENST00000316650.5	-	1	315	c.279G>C	c.(277-279)tgG>tgC	p.W93C		NM_001001917.2	NP_001001917.2	Q8NGH5	O56A1_HUMAN	olfactory receptor, family 56, subfamily A, member 1	93						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.W93C(1)		breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(22)|ovary(2)	33		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;7.01e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TAAGATCATACCAGAAGATGG	0.562																																						uc010qzw.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)|breast(1)	3						c.(277-279)TGG>TGC		olfactory receptor, family 56, subfamily A,							108.0	96.0	100.0					11																	6048656		2201	4296	6497	SO:0001583	missense	120796				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:6048656C>G	AB065821	CCDS31405.1	11p15.4	2012-08-09			ENSG00000180934	ENSG00000180934		"""GPCR / Class A : Olfactory receptors"""	14781	protein-coding gene	gene with protein product							Standard	NM_001001917		Approved		uc010qzw.2	Q8NGH5	OTTHUMG00000165377	ENST00000316650.5:c.279G>C	11.37:g.6048656C>G	ENSP00000321246:p.Trp93Cys						p.W93C	NM_001001917	NP_001001917	Q8NGH5	O56A1_HUMAN		Epithelial(150;7.01e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	1	279	-		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)	93			Extracellular (Potential).		B2RNI2|Q6IFL0	Missense_Mutation	SNP	ENST00000316650.5	37	c.279G>C	CCDS31405.1	.	.	.	.	.	.	.	.	.	.	C	11.58	1.682200	0.29872	.	.	ENSG00000180934	ENST00000316650	T	0.00873	5.59	4.06	3.13	0.36017	GPCR, rhodopsin-like superfamily (1);	0.000000	0.40302	N	0.001137	T	0.05593	0.0147	M	0.84948	2.725	0.42799	D	0.993925	D	0.89917	1.0	D	0.91635	0.999	T	0.04840	-1.0923	10	0.87932	D	0	.	11.1684	0.48556	0.0:0.9062:0.0:0.0937	.	93	Q8NGH5	O56A1_HUMAN	C	93	ENSP00000321246:W93C	ENSP00000321246:W93C	W	-	3	0	OR56A1	6005232	0.000000	0.05858	1.000000	0.80357	0.551000	0.35334	0.177000	0.16801	1.031000	0.39867	0.655000	0.94253	TGG		PASS	0.562	OR56A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383757.1	NM_001001917		41	90	41	90	---	---	---	---
WEE1	7465	broad.mit.edu	37	11	9608047	9608047	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2756-01A-01D-1522-08	TCGA-66-2756-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	472c95e6-eccb-4988-be16-fdace73b2ed8	ff4f5936-f847-42ad-aedf-6a6a7fff6002	g.chr11:9608047G>T	ENST00000450114.2	+	9	1775	c.1522G>T	c.(1522-1524)Gta>Tta	p.V508L	WEE1_ENST00000299613.6_Missense_Mutation_p.V294L	NM_003390.3	NP_003381.1	P30291	WEE1_HUMAN	WEE1 G2 checkpoint kinase	508	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				blood coagulation (GO:0007596)|establishment of cell polarity (GO:0030010)|G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule cytoskeleton organization (GO:0000226)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|neuron projection morphogenesis (GO:0048812)|regulation of cell cycle (GO:0051726)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein serine/threonine kinase activity (GO:0004674)|protein tyrosine kinase activity (GO:0004713)	p.V508L(1)		breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	23				all cancers(16;4.59e-09)|Epithelial(150;3.15e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0484)		CCTCACAGTGGTATGTGCTGC	0.393																																						uc001mhs.2																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(2)|ovary(1)|breast(1)|skin(1)	5						c.(1522-1524)GTA>TTA		WEE1 tyrosine kinase isoform 1							96.0	91.0	93.0					11																	9608047		2201	4294	6495	SO:0001583	missense	7465				blood coagulation|cell cycle checkpoint|cell division|G1/S transition of mitotic cell cycle|G2/M transition of mitotic cell cycle|mitosis|S phase of mitotic cell cycle	nucleoplasm	ATP binding|magnesium ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding|protein serine/threonine kinase activity	g.chr11:9608047G>T	X62048	CCDS7800.1, CCDS44536.1	11p15.4	2013-10-21	2013-10-21		ENSG00000166483	ENSG00000166483			12761	protein-coding gene	gene with protein product		193525	"""wee1+ (S. pombe) homolog"", ""WEE1 homolog (S. pombe)"""			1840647	Standard	NM_003390		Approved		uc001mhs.3	P30291	OTTHUMG00000165863	ENST00000450114.2:c.1522G>T	11.37:g.9608047G>T	ENSP00000402084:p.Val508Leu					WEE1_uc001mht.2_Missense_Mutation_p.V294L	p.V508L	NM_003390	NP_003381	P30291	WEE1_HUMAN		all cancers(16;4.59e-09)|Epithelial(150;3.15e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0484)	9	1775	+			508			Protein kinase.		B3KVE1|D3DQV0	Missense_Mutation	SNP	ENST00000450114.2	37	c.1522G>T	CCDS7800.1	.	.	.	.	.	.	.	.	.	.	G	11.53	1.665535	0.29604	.	.	ENSG00000166483	ENST00000450114;ENST00000299613;ENST00000524612;ENST00000530712	T;T;T;T	0.71817	1.24;1.24;1.18;-0.6	5.98	3.14	0.36123	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.120998	0.56097	D	0.000038	T	0.34774	0.0909	N	0.00771	-1.2	0.80722	D	1	B	0.10296	0.003	B	0.14023	0.01	T	0.10291	-1.0636	10	0.12766	T	0.61	-8.035	8.9281	0.35652	0.2772:0.0:0.7228:0.0	.	508	P30291	WEE1_HUMAN	L	508;294;136;114	ENSP00000402084:V508L;ENSP00000299613:V294L;ENSP00000434446:V136L;ENSP00000434148:V114L	ENSP00000299613:V294L	V	+	1	0	WEE1	9564623	1.000000	0.71417	0.980000	0.43619	0.993000	0.82548	2.818000	0.48041	0.880000	0.35969	-0.229000	0.12294	GTA		PASS	0.393	WEE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386757.1	NM_003390		81	101	81	101	---	---	---	---
SPON1	10418	broad.mit.edu	37	11	14157086	14157086	+	RNA	SNP	T	T	A			TCGA-66-2756-01A-01D-1522-08	TCGA-66-2756-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	472c95e6-eccb-4988-be16-fdace73b2ed8	ff4f5936-f847-42ad-aedf-6a6a7fff6002	g.chr11:14157086T>A	ENST00000310358.7	+	0	1332				RNA5SP332_ENST00000391063.1_RNA			Q9HCB6	SPON1_HUMAN	spondin 1, extracellular matrix protein						cell adhesion (GO:0007155)	extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)		p.V265E(1)		NS(1)|endometrium(1)|large_intestine(5)|lung(11)|prostate(2)|upper_aerodigestive_tract(1)	21				Epithelial(150;0.00898)		GGCTCACCCGTGAAAATGGAG	0.433																																						uc001mle.2																			1	Substitution - Missense(1)		lung(1)		0						c.(796-798)GTG>GAG		spondin 1, extracellular matrix protein							91.0	88.0	89.0					11																	14157086		1900	4126	6026			10418				cell adhesion	extracellular space|proteinaceous extracellular matrix	protein binding	g.chr11:14157086T>A	AB018305	CCDS73262.1	11p15.2	2014-05-06	2004-03-05		ENSG00000152268	ENSG00000262655			11252	protein-coding gene	gene with protein product		604989	"""spondin 1, (f-spondin) extracellular matrix protein"""			9872452	Standard	NM_006108		Approved	KIAA0762, f-spondin	uc001mle.3	Q9HCB6	OTTHUMG00000181576		11.37:g.14157086T>A							p.V266E	NM_006108	NP_006099	Q9HCB6	SPON1_HUMAN		Epithelial(150;0.00898)	7	1335	+			266			Spondin.		A8K6W5|O94862|Q8NCD7|Q8WUR5	Missense_Mutation	SNP	ENST00000310358.7	37	c.797T>A		.	.	.	.	.	.	.	.	.	.	T	17.90	3.502858	0.64298	.	.	ENSG00000152268	ENST00000310358	.	.	.	5.69	5.69	0.88448	Spondin, N-terminal (2);	0.000000	0.64402	D	0.000002	T	0.50956	0.1646	.	.	.	0.51233	D	0.999910	P	0.52061	0.95	P	0.50440	0.641	T	0.54282	-0.8317	7	0.14252	T	0.57	.	13.8997	0.63794	0.0:0.0:0.0:1.0	.	266	Q9HCB6	SPON1_HUMAN	E	265	.	ENSP00000309297:V265E	V	+	2	0	SPON1	14113662	1.000000	0.71417	1.000000	0.80357	0.956000	0.61745	7.698000	0.84413	2.179000	0.69175	0.460000	0.39030	GTG		PASS	0.433	SPON1-201	KNOWN	basic	processed_transcript	processed_transcript		NM_145584		48	58	48	58	---	---	---	---
MRGPRX4	117196	broad.mit.edu	37	11	18194982	18194982	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2756-01A-01D-1522-08	TCGA-66-2756-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	472c95e6-eccb-4988-be16-fdace73b2ed8	ff4f5936-f847-42ad-aedf-6a6a7fff6002	g.chr11:18194982C>A	ENST00000314254.3	+	1	599	c.179C>A	c.(178-180)gCt>gAt	p.A60D	RP11-113D6.6_ENST00000527671.1_Intron	NM_054032.3	NP_473373.2	Q96LA9	MRGX4_HUMAN	MAS-related GPR, member X4	60						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.A60D(1)		central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(18)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	32						CGCAGGAACGCTGTCTCCATC	0.547																																						uc001mnv.1																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(178-180)GCT>GAT		MAS-related GPR, member X4							124.0	107.0	113.0					11																	18194982		2199	4293	6492	SO:0001583	missense	117196					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr11:18194982C>A	AY042216	CCDS7831.1	11p15.1	2013-10-10			ENSG00000179817	ENSG00000179817		"""GPCR / Class A : Orphans"""	17617	protein-coding gene	gene with protein product		607230				11551509	Standard	NM_054032		Approved	MRGX4	uc001mnv.1	Q96LA9	OTTHUMG00000166442	ENST00000314254.3:c.179C>A	11.37:g.18194982C>A	ENSP00000314042:p.Ala60Asp						p.A60D	NM_054032	NP_473373	Q96LA9	MRGX4_HUMAN			1	599	+			60			Cytoplasmic (Potential).		Q3KNU3|Q3KNU4|Q502W0|Q8TDD6|Q8TDD7	Missense_Mutation	SNP	ENST00000314254.3	37	c.179C>A	CCDS7831.1	.	.	.	.	.	.	.	.	.	.	C	14.73	2.622763	0.46840	.	.	ENSG00000179817	ENST00000314254	T	0.09630	2.96	2.95	2.95	0.34219	GPCR, rhodopsin-like superfamily (1);	0.537818	0.18193	N	0.148752	T	0.33644	0.0870	M	0.90369	3.11	0.09310	N	1	D	0.57257	0.979	D	0.67103	0.949	T	0.07424	-1.0773	10	0.87932	D	0	.	7.3691	0.26792	0.2607:0.7393:0.0:0.0	.	60	Q96LA9	MRGX4_HUMAN	D	60	ENSP00000314042:A60D	ENSP00000314042:A60D	A	+	2	0	MRGPRX4	18151558	0.000000	0.05858	0.002000	0.10522	0.231000	0.25187	-0.275000	0.08525	1.671000	0.50874	0.511000	0.50034	GCT		PASS	0.547	MRGPRX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389788.1	NM_054032		70	73	70	73	---	---	---	---
ANO3	63982	broad.mit.edu	37	11	26463486	26463486	+	Missense_Mutation	SNP	A	A	C			TCGA-66-2756-01A-01D-1522-08	TCGA-66-2756-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	472c95e6-eccb-4988-be16-fdace73b2ed8	ff4f5936-f847-42ad-aedf-6a6a7fff6002	g.chr11:26463486A>C	ENST00000256737.3	+	2	920	c.68A>C	c.(67-69)gAg>gCg	p.E23A	ANO3_ENST00000531646.1_Missense_Mutation_p.E23A|ANO3_ENST00000525139.1_Missense_Mutation_p.E7A|ANO3_ENST00000537978.1_Missense_Mutation_p.E7A	NM_031418.2	NP_113606.2	Q9BYT9	ANO3_HUMAN	anoctamin 3	23					calcium activated galactosylceramide scrambling (GO:0061591)|calcium activated phosphatidylcholine scrambling (GO:0061590)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	phospholipid scramblase activity (GO:0017128)	p.E23A(1)		breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(33)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	68						AGCAAGAGTGAGATAACAAAA	0.388																																						uc001mqt.3																			1	Substitution - Missense(1)		lung(1)	ovary(2)|central_nervous_system(1)|pancreas(1)	4						c.(67-69)GAG>GCG		transmembrane protein 16C							103.0	110.0	108.0					11																	26463486		2203	4300	6503	SO:0001583	missense	63982					chloride channel complex	chloride channel activity	g.chr11:26463486A>C	AJ300461	CCDS31447.1	11p14.2	2014-04-09	2008-08-28	2008-08-28	ENSG00000134343	ENSG00000134343		"""Ion channels / Chloride channels : Calcium activated : Anoctamins"""	14004	protein-coding gene	gene with protein product	"""transmembrane protein 16C (eight membrane-spanning domains)"""	610110	"""chromosome 11 open reading frame 25"", ""transmembrane protein 16C"""	C11orf25, TMEM16C		12739008, 15067359, 23200863, 24692353	Standard	NM_031418		Approved	GENX-3947, DYT23	uc001mqt.4	Q9BYT9	OTTHUMG00000166096	ENST00000256737.3:c.68A>C	11.37:g.26463486A>C	ENSP00000256737:p.Glu23Ala					ANO3_uc010rdr.1_Missense_Mutation_p.E7A	p.E23A	NM_031418	NP_113606	Q9BYT9	ANO3_HUMAN			2	213	+			23			Cytoplasmic (Potential).		B7Z3F5	Missense_Mutation	SNP	ENST00000256737.3	37	c.68A>C	CCDS31447.1	.	.	.	.	.	.	.	.	.	.	A	21.1	4.098699	0.76870	.	.	ENSG00000134343	ENST00000537978;ENST00000525139;ENST00000256737;ENST00000531646	T;T;T;T	0.63580	-0.05;-0.05;-0.05;-0.05	5.64	5.64	0.86602	.	0.000000	0.85682	D	0.000000	T	0.61949	0.2388	N	0.24115	0.695	0.48236	D	0.999613	D	0.67145	0.996	P	0.57425	0.82	T	0.65360	-0.6187	10	0.56958	D	0.05	.	12.5519	0.56231	1.0:0.0:0.0:0.0	.	23	Q9BYT9	ANO3_HUMAN	A	7;7;23;23	ENSP00000440737:E7A;ENSP00000432576:E7A;ENSP00000256737:E23A;ENSP00000435275:E23A	ENSP00000256737:E23A	E	+	2	0	ANO3	26420062	1.000000	0.71417	1.000000	0.80357	0.936000	0.57629	4.996000	0.63914	2.284000	0.76573	0.528000	0.53228	GAG		PASS	0.388	ANO3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000387806.1	NM_031418		45	153	45	153	---	---	---	---
EHF	26298	broad.mit.edu	37	11	34668094	34668094	+	Missense_Mutation	SNP	A	A	T			TCGA-66-2756-01A-01D-1522-08	TCGA-66-2756-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	472c95e6-eccb-4988-be16-fdace73b2ed8	ff4f5936-f847-42ad-aedf-6a6a7fff6002	g.chr11:34668094A>T	ENST00000533754.1	+	3	423	c.206A>T	c.(205-207)gAt>gTt	p.D69V	EHF_ENST00000531794.1_Missense_Mutation_p.D91V|EHF_ENST00000450654.2_Missense_Mutation_p.D69V|EHF_ENST00000531728.1_Missense_Mutation_p.D69V|EHF_ENST00000527935.1_Missense_Mutation_p.D69V|EHF_ENST00000530286.1_Missense_Mutation_p.D69V|EHF_ENST00000527001.1_3'UTR|EHF_ENST00000257831.3_Missense_Mutation_p.D69V					ets homologous factor									p.D69V(1)	NFIA/EHF(2)	autonomic_ganglia(1)|cervix(1)|endometrium(3)|kidney(3)|lung(8)|upper_aerodigestive_tract(1)	17		all_hematologic(20;0.117)	Epithelial(1;0.055)|all cancers(1;0.137)|STAD - Stomach adenocarcinoma(6;0.235)			AACCAGCTGGATGCCAATTGT	0.577																																						uc001mvr.1																			1	Substitution - Missense(1)		lung(1)		0						c.(205-207)GAT>GTT		ets homologous factor							111.0	102.0	105.0					11																	34668094		2202	4298	6500	SO:0001583	missense	26298				cell proliferation|epithelial cell differentiation|multicellular organismal development|positive regulation of transcription, DNA-dependent		protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr11:34668094A>T	AF170583	CCDS7894.1, CCDS55752.1, CCDS55753.1	11p12	2008-07-18				ENSG00000135373			3246	protein-coding gene	gene with protein product	"""epithelium-specific ets factor 3"", ""ESE3 transcription factor"""	605439				10527851	Standard	NM_012153		Approved	ESE3, ESEJ	uc021qfu.1	Q9NZC4		ENST00000533754.1:c.206A>T	11.37:g.34668094A>T	ENSP00000435837:p.Asp69Val					EHF_uc009yke.1_Missense_Mutation_p.D69V|EHF_uc009ykf.1_Missense_Mutation_p.D72V	p.D69V	NM_012153	NP_036285	Q9NZC4	EHF_HUMAN	Epithelial(1;0.055)|all cancers(1;0.137)|STAD - Stomach adenocarcinoma(6;0.235)		3	317	+		all_hematologic(20;0.117)	69			PNT.			Missense_Mutation	SNP	ENST00000533754.1	37	c.206A>T	CCDS7894.1	.	.	.	.	.	.	.	.	.	.	A	24.9	4.586870	0.86851	.	.	ENSG00000135373	ENST00000257831;ENST00000450654;ENST00000530286;ENST00000533754;ENST00000529527;ENST00000531728;ENST00000525253;ENST00000531794;ENST00000532302;ENST00000527935	T;T;T;T;T;T;T;T;T;T	0.36340	1.26;1.26;1.26;1.26;1.26;1.26;1.26;1.26;1.26;1.26	5.24	5.24	0.73138	Sterile alpha motif/pointed domain (2);Pointed domain (3);	0.086643	0.85682	D	0.000000	T	0.59838	0.2223	M	0.72118	2.19	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.997;0.999	T	0.64241	-0.6454	10	0.72032	D	0.01	.	15.1519	0.72706	1.0:0.0:0.0:0.0	.	91;69;69	E9PSB2;Q9NZC4-2;Q9NZC4	.;.;EHF_HUMAN	V	69;69;69;69;69;69;69;91;69;69	ENSP00000257831:D69V;ENSP00000399733:D69V;ENSP00000433508:D69V;ENSP00000435837:D69V;ENSP00000432905:D69V;ENSP00000436357:D69V;ENSP00000434395:D69V;ENSP00000435835:D91V;ENSP00000432460:D69V;ENSP00000436158:D69V	ENSP00000257831:D69V	D	+	2	0	EHF	34624670	1.000000	0.71417	0.959000	0.39883	0.956000	0.61745	8.962000	0.93254	1.987000	0.57996	0.454000	0.30748	GAT		PASS	0.577	EHF-003	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000389855.1	NM_012153		99	171	99	171	---	---	---	---
SYT13	57586	broad.mit.edu	37	11	45277321	45277321	+	Missense_Mutation	SNP	A	A	C			TCGA-66-2756-01A-01D-1522-08	TCGA-66-2756-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	472c95e6-eccb-4988-be16-fdace73b2ed8	ff4f5936-f847-42ad-aedf-6a6a7fff6002	g.chr11:45277321A>C	ENST00000020926.3	-	2	416	c.305T>G	c.(304-306)cTg>cGg	p.L102R	CTD-2560E9.5_ENST00000534342.1_RNA|CTD-2560E9.5_ENST00000531663.1_RNA	NM_001247987.1|NM_020826.2	NP_001234916.1|NP_065877.1	Q7L8C5	SYT13_HUMAN	synaptotagmin XIII	102					vesicle-mediated transport (GO:0016192)	integral component of plasma membrane (GO:0005887)|transport vesicle (GO:0030133)		p.L102R(1)		breast(1)|large_intestine(3)|lung(16)|ovary(1)|skin(2)	23						CGTAGACCTCAGTGAATAGTC	0.592																																						uc001myq.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(304-306)CTG>CGG		synaptotagmin XIII							83.0	79.0	81.0					11																	45277321		2203	4299	6502	SO:0001583	missense	57586					transport vesicle		g.chr11:45277321A>C	AB037848	CCDS31470.1	11p12-p11	2013-01-21			ENSG00000019505	ENSG00000019505		"""Synaptotagmins"""	14962	protein-coding gene	gene with protein product		607716				11171101	Standard	NM_020826		Approved	KIAA1427	uc001myq.2	Q7L8C5	OTTHUMG00000166504	ENST00000020926.3:c.305T>G	11.37:g.45277321A>C	ENSP00000020926:p.Leu102Arg					SYT13_uc009yku.1_5'UTR	p.L102R	NM_020826	NP_065877	Q7L8C5	SYT13_HUMAN			2	431	-			102			Cytoplasmic (Potential).		A8K4P4|D3DQP1|Q9BQS3|Q9H041|Q9P2C0	Missense_Mutation	SNP	ENST00000020926.3	37	c.305T>G	CCDS31470.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	14.34|14.34	2.506232|2.506232	0.44558|0.44558	.|.	.|.	ENSG00000019505|ENSG00000019505	ENST00000020926|ENST00000528101	T|.	0.09255|.	3.0|.	5.39|5.39	5.39|5.39	0.77823|0.77823	.|.	0.199908|.	0.34580|.	N|.	0.003851|.	T|.	0.38719|.	0.1051|.	N|N	0.14661|0.14661	0.345|0.345	0.38678|0.38678	D|D	0.95246|0.95246	D|.	0.60575|.	0.988|.	P|.	0.49140|.	0.601|.	T|.	0.37197|.	-0.9716|.	10|.	0.17369|.	T|.	0.5|.	.|.	9.5559|9.5559	0.39339|0.39339	0.9204:0.0:0.0796:0.0|0.9204:0.0:0.0796:0.0	.|.	102|.	Q7L8C5|.	SYT13_HUMAN|.	R|G	102|62	ENSP00000020926:L102R|.	ENSP00000020926:L102R|.	L|X	-|-	2|1	0|0	SYT13|SYT13	45233897|45233897	1.000000|1.000000	0.71417|0.71417	0.979000|0.979000	0.43373|0.43373	0.184000|0.184000	0.23303|0.23303	4.706000|4.706000	0.61845|0.61845	2.163000|2.163000	0.67991|0.67991	0.459000|0.459000	0.35465|0.35465	CTG|TGA		PASS	0.592	SYT13-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390110.1	NM_020826		21	71	21	71	---	---	---	---
CRY2	1408	broad.mit.edu	37	11	45893667	45893667	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2756-01A-01D-1522-08	TCGA-66-2756-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	472c95e6-eccb-4988-be16-fdace73b2ed8	ff4f5936-f847-42ad-aedf-6a6a7fff6002	g.chr11:45893667C>G	ENST00000443527.2	+	11	1752	c.1730C>G	c.(1729-1731)cCa>cGa	p.P577R	CRY2_ENST00000417225.2_Missense_Mutation_p.P495R	NM_021117.3	NP_066940.2	Q49AN0	CRY2_HUMAN	cryptochrome circadian clock 2	556					blue light signaling pathway (GO:0009785)|circadian regulation of gene expression (GO:0032922)|circadian rhythm (GO:0007623)|DNA repair (GO:0006281)|entrainment of circadian clock by photoperiod (GO:0043153)|glucose homeostasis (GO:0042593)|negative regulation of circadian rhythm (GO:0042754)|negative regulation of glucocorticoid receptor signaling pathway (GO:2000323)|negative regulation of phosphoprotein phosphatase activity (GO:0032515)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|protein-chromophore linkage (GO:0018298)|regulation of circadian rhythm (GO:0042752)|regulation of sodium-dependent phosphate transport (GO:2000118)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|nucleus (GO:0005634)	blue light photoreceptor activity (GO:0009882)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|DNA photolyase activity (GO:0003913)|FAD binding (GO:0071949)|phosphatase binding (GO:0019902)|single-stranded DNA binding (GO:0003697)|transcription factor binding transcription factor activity (GO:0000989)|transcription regulatory region sequence-specific DNA binding (GO:0000976)|ubiquitin binding (GO:0043130)	p.P556R(1)		NS(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(2)	15						CCCAGTGGCCCAGCATCCCCC	0.597																																					Esophageal Squamous(106;91 1499 8126 12599 39610)	uc010rgn.1																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1						c.(1729-1731)CCA>CGA		cryptochrome 2 (photolyase-like) isoform 1							69.0	72.0	71.0					11																	45893667		2203	4299	6502	SO:0001583	missense	1408				DNA repair|protein-chromophore linkage|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	blue light photoreceptor activity|damaged DNA binding|DNA photolyase activity|nucleotide binding|protein binding|single-stranded DNA binding	g.chr11:45893667C>G	AB014558	CCDS7915.2, CCDS44576.1	11p11.2	2014-01-17	2014-01-17		ENSG00000121671	ENSG00000121671			2385	protein-coding gene	gene with protein product		603732	"""cryptochrome 2 (photolyase-like)"""			8909283	Standard	NM_021117		Approved		uc010rgn.2	Q49AN0	OTTHUMG00000153225	ENST00000443527.2:c.1730C>G	11.37:g.45893667C>G	ENSP00000406751:p.Pro577Arg					CRY2_uc009ykw.2_Missense_Mutation_p.P495R|CRY2_uc010rgo.1_Missense_Mutation_p.P299R	p.P577R	NM_021117	NP_066940	Q49AN0	CRY2_HUMAN			11	1752	+			556					B4DH32|B4DZD6|O75148|Q8IV71	Missense_Mutation	SNP	ENST00000443527.2	37	c.1730C>G	CCDS7915.2	.	.	.	.	.	.	.	.	.	.	C	13.70	2.316801	0.40996	.	.	ENSG00000121671	ENST00000417225;ENST00000443527	.	.	.	5.57	3.69	0.42338	.	1.126710	0.06467	N	0.730546	T	0.26484	0.0647	N	0.14661	0.345	0.27300	N	0.957596	B;B;B	0.23128	0.047;0.08;0.078	B;B;B	0.21917	0.027;0.027;0.037	T	0.27365	-1.0076	9	0.33940	T	0.23	-1.5519	4.9424	0.13973	0.3208:0.5223:0.0:0.1569	.	556;577;495	Q49AN0;B4DZD6;Q49AN0-2	CRY2_HUMAN;.;.	R	495;577	.	ENSP00000397419:P495R	P	+	2	0	CRY2	45850243	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	1.564000	0.36375	0.704000	0.31869	0.655000	0.94253	CCA		PASS	0.597	CRY2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000330235.2	NM_021117		21	65	21	65	---	---	---	---
LRP4	4038	broad.mit.edu	37	11	46897450	46897450	+	Missense_Mutation	SNP	G	G	A			TCGA-66-2756-01A-01D-1522-08	TCGA-66-2756-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	472c95e6-eccb-4988-be16-fdace73b2ed8	ff4f5936-f847-42ad-aedf-6a6a7fff6002	g.chr11:46897450G>A	ENST00000378623.1	-	26	3846	c.3604C>T	c.(3604-3606)Cgc>Tgc	p.R1202C	LRP4-AS1_ENST00000502049.2_RNA|LRP4-AS1_ENST00000531719.1_RNA	NM_002334.3	NP_002325.2	O75096	LRP4_HUMAN	low density lipoprotein receptor-related protein 4	1202					dendrite morphogenesis (GO:0048813)|dorsal/ventral pattern formation (GO:0009953)|embryonic digit morphogenesis (GO:0042733)|endocytosis (GO:0006897)|extracellular matrix organization (GO:0030198)|hair follicle development (GO:0001942)|kidney development (GO:0001822)|limb development (GO:0060173)|negative regulation of axonogenesis (GO:0050771)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of ossification (GO:0030279)|odontogenesis of dentin-containing tooth (GO:0042475)|positive regulation of presynaptic membrane organization (GO:1901631)|postsynaptic membrane assembly (GO:0097104)|presynaptic membrane assembly (GO:0097105)|protein heterotetramerization (GO:0051290)|proximal/distal pattern formation (GO:0009954)|regulation of protein phosphorylation (GO:0001932)|skeletal muscle acetylcholine-gated channel clustering (GO:0071340)|synapse organization (GO:0050808)|synaptic growth at neuromuscular junction (GO:0051124)|Wnt signaling pathway (GO:0016055)	cell surface (GO:0009986)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|neuromuscular junction (GO:0031594)|neuronal cell body (GO:0043025)|postsynaptic density (GO:0014069)|synaptic membrane (GO:0097060)	calcium ion binding (GO:0005509)|receptor tyrosine kinase binding (GO:0030971)|scaffold protein binding (GO:0097110)	p.R1202C(1)		breast(7)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(24)|ovary(3)|pancreas(2)|prostate(5)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	70				Lung(87;0.159)		AGCACCGCGCGGTCTGAGCCA	0.537																																						uc001ndn.3																			1	Substitution - Missense(1)		lung(1)	skin(2)|upper_aerodigestive_tract(1)|ovary(1)	4						c.(3604-3606)CGC>TGC		low density lipoprotein receptor-related protein							128.0	98.0	108.0					11																	46897450		2201	4299	6500	SO:0001583	missense	4038				endocytosis|negative regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	integral to membrane	calcium ion binding|receptor activity	g.chr11:46897450G>A	AB011540	CCDS31478.1	11p11.2	2013-05-29			ENSG00000134569	ENSG00000134569		"""Low density lipoprotein receptors"""	6696	protein-coding gene	gene with protein product		604270				9693030	Standard	NM_002334		Approved	MEGF7, CLSS, LRP-4, SOST2	uc001ndn.4	O75096	OTTHUMG00000166700	ENST00000378623.1:c.3604C>T	11.37:g.46897450G>A	ENSP00000367888:p.Arg1202Cys						p.R1202C	NM_002334	NP_002325	O75096	LRP4_HUMAN		Lung(87;0.159)	26	3750	-			1202			Extracellular (Potential).|LDL-receptor class B 13.		B2RN39|Q4AC85|Q5KTZ5	Missense_Mutation	SNP	ENST00000378623.1	37	c.3604C>T	CCDS31478.1	.	.	.	.	.	.	.	.	.	.	G	21.8	4.200696	0.79015	.	.	ENSG00000134569	ENST00000378623	D	0.97665	-4.48	5.71	5.71	0.89125	Six-bladed beta-propeller, TolB-like (1);	0.000000	0.85682	D	0.000000	D	0.98732	0.9574	H	0.95712	3.71	0.80722	D	1	P	0.46395	0.877	P	0.54706	0.759	D	0.98994	1.0809	10	0.52906	T	0.07	.	19.8574	0.96764	0.0:0.0:1.0:0.0	.	1202	O75096	LRP4_HUMAN	C	1202	ENSP00000367888:R1202C	ENSP00000367888:R1202C	R	-	1	0	LRP4	46854026	1.000000	0.71417	0.990000	0.47175	0.479000	0.33129	7.701000	0.84566	2.704000	0.92352	0.555000	0.69702	CGC		PASS	0.537	LRP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391133.1	NM_002334		32	39	32	39	---	---	---	---
AGBL2	79841	broad.mit.edu	37	11	47703571	47703571	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2756-01A-01D-1522-08	TCGA-66-2756-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	472c95e6-eccb-4988-be16-fdace73b2ed8	ff4f5936-f847-42ad-aedf-6a6a7fff6002	g.chr11:47703571C>A	ENST00000525123.1	-	12	2150	c.1865G>T	c.(1864-1866)gGa>gTa	p.G622V	AGBL2_ENST00000298861.4_Missense_Mutation_p.G622V|AGBL2_ENST00000357610.3_Missense_Mutation_p.G622V|AGBL2_ENST00000529712.1_5'UTR|AGBL2_ENST00000528244.1_Missense_Mutation_p.G584V	NM_024783.3	NP_079059.2	Q5U5Z8	CBPC2_HUMAN	ATP/GTP binding protein-like 2	622						cytosol (GO:0005829)	metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)	p.G622V(1)		NS(1)|endometrium(5)|kidney(1)|large_intestine(8)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(1)	34						GTTTAGGATTCCCATCCGCCA	0.418																																						uc001ngg.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(1864-1866)GGA>GTA		carboxypeptidase 2, cytosolic							106.0	102.0	104.0					11																	47703571		2201	4298	6499	SO:0001583	missense	79841				proteolysis	cytosol	metallocarboxypeptidase activity|zinc ion binding	g.chr11:47703571C>A		CCDS7944.1	11p11.2	2014-06-23			ENSG00000165923	ENSG00000165923			26296	protein-coding gene	gene with protein product	"""cytoplasmic carboxypeptidase 2"""					12738998, 21303978	Standard	NM_024783		Approved	FLJ23598, CCP2	uc001ngg.3	Q5U5Z8	OTTHUMG00000165368	ENST00000525123.1:c.1865G>T	11.37:g.47703571C>A	ENSP00000435582:p.Gly622Val					AGBL2_uc001ngf.2_RNA|AGBL2_uc010rhq.1_Missense_Mutation_p.G584V|AGBL2_uc001ngh.1_Missense_Mutation_p.G566V	p.G622V	NM_024783	NP_079059	Q5U5Z8	CBPC2_HUMAN			11	1965	-			622					A8MPX2|Q53FV5|Q8IV57|Q9H5C0	Missense_Mutation	SNP	ENST00000525123.1	37	c.1865G>T	CCDS7944.1	.	.	.	.	.	.	.	.	.	.	C	26.1	4.702331	0.88924	.	.	ENSG00000165923	ENST00000528609;ENST00000525123;ENST00000357610;ENST00000298861;ENST00000528244	T;T;T;T	0.09817	2.94;2.94;2.94;2.94	5.47	5.47	0.80525	Peptidase M14, carboxypeptidase A (1);	0.108661	0.64402	D	0.000005	T	0.48714	0.1515	H	0.95574	3.69	0.80722	D	1	D;D;D	0.89917	1.0;0.999;0.999	D;D;D	0.91635	0.999;0.995;0.993	T	0.64812	-0.6319	10	0.87932	D	0	-24.8176	19.333	0.94299	0.0:1.0:0.0:0.0	.	584;584;622	F6U0I4;B4DZS1;Q5U5Z8	.;.;CBPC2_HUMAN	V	5;622;622;622;584	ENSP00000435582:G622V;ENSP00000350228:G622V;ENSP00000298861:G622V;ENSP00000436630:G584V	ENSP00000298861:G622V	G	-	2	0	AGBL2	47660147	1.000000	0.71417	0.968000	0.41197	0.976000	0.68499	7.408000	0.80041	2.573000	0.86826	0.555000	0.69702	GGA		PASS	0.418	AGBL2-001	KNOWN	non_canonical_conserved|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000383726.2	NM_024783		14	71	14	71	---	---	---	---
NUP160	23279	broad.mit.edu	37	11	47825022	47825022	+	Missense_Mutation	SNP	T	T	A			TCGA-66-2756-01A-01D-1522-08	TCGA-66-2756-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	472c95e6-eccb-4988-be16-fdace73b2ed8	ff4f5936-f847-42ad-aedf-6a6a7fff6002	g.chr11:47825022T>A	ENST00000378460.2	-	22	2789	c.2743A>T	c.(2743-2745)Agg>Tgg	p.R915W	NUP160_ENST00000528071.1_Missense_Mutation_p.R801W|NUP160_ENST00000530326.1_Missense_Mutation_p.R801W|RNA5SP340_ENST00000517132.1_RNA	NM_015231.1	NP_056046.1	Q12769	NU160_HUMAN	nucleoporin 160kDa	915					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 export from nucleus (GO:0006406)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|nuclear envelope (GO:0005635)|nuclear pore (GO:0005643)|nuclear pore outer ring (GO:0031080)	nucleocytoplasmic transporter activity (GO:0005487)	p.R915W(1)		NS(1)|biliary_tract(2)|breast(7)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(15)|ovary(6)|prostate(2)|skin(2)|urinary_tract(2)	53						AGGTAACACCTTCCCAGCATA	0.373																																						uc001ngm.2																			1	Substitution - Missense(1)		lung(1)	ovary(4)|lung(1)|central_nervous_system(1)|skin(1)	7						c.(2743-2745)AGG>TGG		nucleoporin 160kDa							185.0	159.0	168.0					11																	47825022		2201	4298	6499	SO:0001583	missense	23279				carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA export from nucleus|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|Nup107-160 complex	nucleocytoplasmic transporter activity|protein binding	g.chr11:47825022T>A	D83781	CCDS31484.1	11p11.12	2008-07-21	2002-08-29		ENSG00000030066	ENSG00000030066			18017	protein-coding gene	gene with protein product		607614	"""nucleoporin 160kD"""			11684705	Standard	NM_015231		Approved	KIAA0197, FLJ22583	uc001ngm.3	Q12769	OTTHUMG00000166534	ENST00000378460.2:c.2743A>T	11.37:g.47825022T>A	ENSP00000367721:p.Arg915Trp					NUP160_uc009ylw.2_RNA	p.R915W	NM_015231	NP_056046	Q12769	NU160_HUMAN			22	2828	-			915					B4DYE8|B4E2J9|Q08AD3|Q7Z5X6|Q96GB3|Q9H660	Missense_Mutation	SNP	ENST00000378460.2	37	c.2743A>T	CCDS31484.1	.	.	.	.	.	.	.	.	.	.	T	21.6	4.179378	0.78564	.	.	ENSG00000030066	ENST00000378460;ENST00000530326;ENST00000528071	T;T;T	0.55234	0.53;0.53;0.53	5.75	2.73	0.32206	.	0.060970	0.64402	D	0.000003	T	0.59197	0.2176	L	0.44542	1.39	0.80722	D	1	D	0.65815	0.995	P	0.58577	0.841	T	0.58691	-0.7592	10	0.52906	T	0.07	.	14.0832	0.64939	0.0:0.0:0.4684:0.5316	.	915	Q12769	NU160_HUMAN	W	915;801;801	ENSP00000367721:R915W;ENSP00000433590:R801W;ENSP00000432367:R801W	ENSP00000367721:R915W	R	-	1	2	NUP160	47781598	1.000000	0.71417	0.979000	0.43373	0.950000	0.60333	4.019000	0.57181	0.284000	0.22305	-0.213000	0.12676	AGG		PASS	0.373	NUP160-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390239.2	NM_015231		76	119	76	119	---	---	---	---
OR4A15	81328	broad.mit.edu	37	11	55135929	55135929	+	Missense_Mutation	SNP	T	T	G	rs544358268	byFrequency	TCGA-66-2756-01A-01D-1522-08	TCGA-66-2756-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	472c95e6-eccb-4988-be16-fdace73b2ed8	ff4f5936-f847-42ad-aedf-6a6a7fff6002	g.chr11:55135929T>G	ENST00000314706.3	+	1	570	c.570T>G	c.(568-570)ttT>ttG	p.F190L		NM_001005275.1	NP_001005275.1	Q8NGL6	O4A15_HUMAN	olfactory receptor, family 4, subfamily A, member 15	190						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.F190L(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						AATTTCTCTTTATTTATCAGC	0.423																																						uc010rif.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(568-570)TTT>TTG		olfactory receptor, family 4, subfamily A,							148.0	137.0	140.0					11																	55135929		2201	4293	6494	SO:0001583	missense	81328				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55135929T>G	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.570T>G	11.37:g.55135929T>G	ENSP00000325065:p.Phe190Leu						p.F190L	NM_001005275	NP_001005275	Q8NGL6	O4A15_HUMAN			1	570	+			190			Extracellular (Potential).		Q6IFL4|Q96R65	Missense_Mutation	SNP	ENST00000314706.3	37	c.570T>G	CCDS31500.1	.	.	.	.	.	.	.	.	.	.	-	7.220	0.597131	0.13875	.	.	ENSG00000181958	ENST00000314706	T	0.00048	8.82	3.48	2.31	0.28768	GPCR, rhodopsin-like superfamily (1);	0.264640	0.26903	N	0.021902	T	0.00073	0.0002	N	0.11064	0.09	0.09310	N	1	B	0.06786	0.001	B	0.17979	0.02	T	0.15867	-1.0422	10	0.07325	T	0.83	.	4.0651	0.09856	0.2104:0.0:0.2177:0.572	.	190	Q8NGL6	O4A15_HUMAN	L	190	ENSP00000325065:F190L	ENSP00000325065:F190L	F	+	3	2	OR4A15	54892505	0.000000	0.05858	0.002000	0.10522	0.546000	0.35178	-3.484000	0.00455	0.410000	0.25675	0.403000	0.27427	TTT		PASS	0.423	OR4A15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391161.1	NM_001005275		87	304	87	304	---	---	---	---
OR8H1	219469	broad.mit.edu	37	11	56058536	56058536	+	Start_Codon_SNP	SNP	C	C	A	rs537282815		TCGA-66-2756-01A-01D-1522-08	TCGA-66-2756-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	472c95e6-eccb-4988-be16-fdace73b2ed8	ff4f5936-f847-42ad-aedf-6a6a7fff6002	g.chr11:56058536C>A	ENST00000313022.2	-	1	30	c.3G>T	c.(1-3)atG>atT	p.M1I		NM_001005199.1	NP_001005199.1	Q8NGG4	OR8H1_HUMAN	olfactory receptor, family 8, subfamily H, member 1	1						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.M1I(1)		NS(2)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Esophageal squamous(21;0.00448)					TTCTTCTACCCATGATGTTCA	0.353																																						uc010rje.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|pancreas(1)|skin(1)	3						c.(1-3)ATG>ATT		olfactory receptor, family 8, subfamily H,							77.0	72.0	74.0					11																	56058536		2201	4296	6497	SO:0001582	initiator_codon_variant	219469				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:56058536C>A	AB065836	CCDS31526.1	11q11	2012-08-09			ENSG00000181693	ENSG00000181693		"""GPCR / Class A : Olfactory receptors"""	14824	protein-coding gene	gene with protein product							Standard	NM_001005199		Approved		uc010rje.2	Q8NGG4	OTTHUMG00000162671	ENST00000313022.2:c.3G>T	11.37:g.56058536C>A	ENSP00000323595:p.Met1Ile						p.M1I	NM_001005199	NP_001005199	Q8NGG4	OR8H1_HUMAN			1	3	-	Esophageal squamous(21;0.00448)		1			Extracellular (Potential).		B2RNI7|Q6IFC5	Missense_Mutation	SNP	ENST00000313022.2	37	c.3G>T	CCDS31526.1	.	.	.	.	.	.	.	.	.	.	C	15.35	2.807863	0.50421	.	.	ENSG00000181693	ENST00000313022	T	0.01369	4.97	3.5	3.5	0.40072	.	0.000000	0.64402	D	0.000008	T	0.08044	0.0201	.	.	.	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.07347	-1.0777	9	0.87932	D	0	.	15.4885	0.75587	0.0:1.0:0.0:0.0	.	1	Q8NGG4	OR8H1_HUMAN	I	1	ENSP00000323595:M1I	ENSP00000323595:M1I	M	-	3	0	OR8H1	55815112	0.951000	0.32395	0.062000	0.19696	0.004000	0.04260	2.142000	0.42177	1.905000	0.55150	0.453000	0.30009	ATG		PASS	0.353	OR8H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370019.1	NM_001005199	Missense_Mutation	62	115	62	115	---	---	---	---
OR6Q1	219952	broad.mit.edu	37	11	57799186	57799186	+	Silent	SNP	C	C	A			TCGA-66-2756-01A-01D-1522-08	TCGA-66-2756-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	472c95e6-eccb-4988-be16-fdace73b2ed8	ff4f5936-f847-42ad-aedf-6a6a7fff6002	g.chr11:57799186C>A	ENST00000302622.3	+	1	785	c.762C>A	c.(760-762)ctC>ctA	p.L254L	OR9Q1_ENST00000335397.3_Intron	NM_001005186.2	NP_001005186.2	Q8NGQ2	OR6Q1_HUMAN	olfactory receptor, family 6, subfamily Q, member 1	254						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.L254L(1)		biliary_tract(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		Breast(21;0.0707)|all_epithelial(135;0.142)				TGGTGAGCCTCTTCTATGGCA	0.522																																						uc010rjz.1																			1	Substitution - coding silent(1)		lung(1)	kidney(1)	1						c.(760-762)CTC>CTA		olfactory receptor, family 6, subfamily Q,							183.0	158.0	167.0					11																	57799186		2201	4296	6497	SO:0001819	synonymous_variant	219952				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:57799186C>A	AB065737	CCDS31541.1	11q12.1	2012-08-09			ENSG00000172381	ENSG00000172381		"""GPCR / Class A : Olfactory receptors"""	15302	protein-coding gene	gene with protein product							Standard	NM_001005186		Approved		uc010rjz.2	Q8NGQ2	OTTHUMG00000168831	ENST00000302622.3:c.762C>A	11.37:g.57799186C>A						OR9Q1_uc001nmj.2_Intron	p.L254L	NM_001005186	NP_001005186	Q8NGQ2	OR6Q1_HUMAN			1	762	+		Breast(21;0.0707)|all_epithelial(135;0.142)	254			Helical; Name=6; (Potential).		B9EKW1|Q6IFH1|Q96R34	Silent	SNP	ENST00000302622.3	37	c.762C>A	CCDS31541.1																																																																																				PASS	0.522	OR6Q1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401257.1	NM_001005186		95	153	95	153	---	---	---	---
ZFP91	80829	broad.mit.edu	37	11	58377407	58377407	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2756-01A-01D-1522-08	TCGA-66-2756-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	472c95e6-eccb-4988-be16-fdace73b2ed8	ff4f5936-f847-42ad-aedf-6a6a7fff6002	g.chr11:58377407G>T	ENST00000316059.6	+	3	646	c.475G>T	c.(475-477)Gtt>Ttt	p.V159F	ZFP91-CNTF_ENST00000389919.4_Missense_Mutation_p.V159F	NM_001197051.1|NM_053023.4	NP_001183980.1|NP_444251.1	Q96JP5	ZFP91_HUMAN	ZFP91 zinc finger protein	159					activation of NF-kappaB-inducing kinase activity (GO:0007250)|protein K63-linked ubiquitination (GO:0070534)	nucleus (GO:0005634)	ligase activity (GO:0016874)|metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|ubiquitin-protein transferase activity (GO:0004842)	p.V159F(2)		cervix(1)|endometrium(4)|kidney(4)|large_intestine(4)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	26		Breast(21;0.00725)|all_epithelial(135;0.0101)|all_lung(304;0.24)				TAGGACATCTGTTTCTCGCCA	0.498																																						uc001nmx.3																			2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(475-477)GTT>TTT		zinc finger protein 91							139.0	126.0	131.0					11																	58377407		2201	4295	6496	SO:0001583	missense	80829				activation of NF-kappaB-inducing kinase activity|protein K63-linked ubiquitination	nucleus	nucleic acid binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr11:58377407G>T	AB056107	CCDS31553.1	11q12	2012-11-27	2012-11-27		ENSG00000186660	ENSG00000186660		"""Zinc fingers, C2H2-type"""	14983	protein-coding gene	gene with protein product			"""zinc finger protein homologous to Zfp91 in mouse"", ""zinc finger protein 91 homolog (mouse)"""			12738986, 20682767	Standard	NM_053023		Approved	PZF, ZNF757	uc001nmx.4	Q96JP5	OTTHUMG00000137391	ENST00000316059.6:c.475G>T	11.37:g.58377407G>T	ENSP00000339030:p.Val159Phe					ZFP91_uc001nmy.3_Missense_Mutation_p.V159F|ZFP91-CNTF_uc010rkm.1_RNA	p.V159F	NM_053023	NP_444251	Q96JP5	ZFP91_HUMAN			3	643	+		Breast(21;0.00725)|all_epithelial(135;0.0101)|all_lung(304;0.24)	159					A6NHC4|A8MSG7|Q86V47|Q96JP4|Q96QA3	Missense_Mutation	SNP	ENST00000316059.6	37	c.475G>T	CCDS31553.1	.	.	.	.	.	.	.	.	.	.	G	15.42	2.827429	0.50845	.	.	ENSG00000186660	ENST00000316059;ENST00000389918	T	0.11495	2.77	5.42	-1.19	0.09585	.	9.139550	0.00166	N	0.000000	T	0.06781	0.0173	N	0.14661	0.345	0.20489	N	0.999898	P;P	0.43701	0.815;0.578	B;B	0.36989	0.238;0.12	T	0.24119	-1.0169	10	0.52906	T	0.07	0.6675	6.0923	0.20001	0.2277:0.3873:0.3851:0.0	.	159;159	Q96JP5-2;Q96JP5	.;ZFP91_HUMAN	F	159	ENSP00000339030:V159F	ENSP00000374569:V159F	V	+	1	0	ZFP91	58133983	0.000000	0.05858	0.397000	0.26308	0.976000	0.68499	0.195000	0.17155	-0.379000	0.07906	-0.165000	0.13383	GTT		PASS	0.498	ZFP91-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268674.1	NM_053023		68	86	68	86	---	---	---	---
MPEG1	219972	broad.mit.edu	37	11	58979095	58979095	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2756-01A-01D-1522-08	TCGA-66-2756-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	472c95e6-eccb-4988-be16-fdace73b2ed8	ff4f5936-f847-42ad-aedf-6a6a7fff6002	g.chr11:58979095C>G	ENST00000361050.3	-	1	1329	c.1244G>C	c.(1243-1245)gGc>gCc	p.G415A	RN7SL42P_ENST00000579786.1_RNA	NM_001039396.1	NP_001034485.1	Q2M385	MPEG1_HUMAN	macrophage expressed 1	415						integral component of membrane (GO:0016021)		p.G415A(1)		NS(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(21)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39		all_epithelial(135;0.125)				CGGGGAGTAGCCAGAGGGGCA	0.537																																						uc001nnu.3																			1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(1243-1245)GGC>GCC		macrophage expressed gene 1 precursor							67.0	67.0	67.0					11																	58979095		1920	4135	6055	SO:0001583	missense	219972					integral to membrane		g.chr11:58979095C>G	AK097211	CCDS41650.1	11q12.1	2013-07-31				ENSG00000197629			29619	protein-coding gene	gene with protein product	"""macrophage expressed gene 1"""	610390				7888681, 23257510	Standard	NM_001039396		Approved	MPG1	uc001nnu.4	Q2M385		ENST00000361050.3:c.1244G>C	11.37:g.58979095C>G	ENSP00000354335:p.Gly415Ala						p.G415A	NM_001039396	NP_001034485	Q2M385	MPEG1_HUMAN			1	1400	-		all_epithelial(135;0.125)	415			Extracellular (Potential).		Q2M1T6|Q8TEF8	Missense_Mutation	SNP	ENST00000361050.3	37	c.1244G>C	CCDS41650.1	.	.	.	.	.	.	.	.	.	.	C	7.441	0.640734	0.14386	.	.	ENSG00000197629	ENST00000361050	T	0.41758	0.99	5.73	4.63	0.57726	.	0.319446	0.35040	N	0.003488	T	0.48003	0.1476	M	0.70275	2.135	0.29241	N	0.872628	P	0.52316	0.952	P	0.46885	0.53	T	0.54794	-0.8240	10	0.56958	D	0.05	-19.2969	12.5798	0.56383	0.0:0.9078:0.0:0.0922	.	415	Q2M385	MPEG1_HUMAN	A	415	ENSP00000354335:G415A	ENSP00000354335:G415A	G	-	2	0	MPEG1	58735671	0.974000	0.33945	1.000000	0.80357	0.045000	0.14185	1.792000	0.38754	2.722000	0.93159	0.655000	0.94253	GGC		PASS	0.537	MPEG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370027.1	NM_001039396		34	54	34	54	---	---	---	---
OSBP	5007	broad.mit.edu	37	11	59361714	59361714	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2756-01A-01D-1522-08	TCGA-66-2756-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	472c95e6-eccb-4988-be16-fdace73b2ed8	ff4f5936-f847-42ad-aedf-6a6a7fff6002	g.chr11:59361714C>A	ENST00000263847.1	-	8	1805	c.1326G>T	c.(1324-1326)gaG>gaT	p.E442D	MIR3162_ENST00000581818.1_RNA	NM_002556.2	NP_002547.1	P22059	OSBP1_HUMAN	oxysterol binding protein	442	Sterol binding. {ECO:0000250}.				lipid transport (GO:0006869)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	oxysterol binding (GO:0008142)	p.E442D(1)		NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	26		all_epithelial(135;0.000236)		BRCA - Breast invasive adenocarcinoma(625;0.00607)|LUSC - Lung squamous cell carcinoma(625;0.207)		TGGACAAGGGCTCATTAAAGT	0.373																																						uc001noc.1																			1	Substitution - Missense(1)		lung(1)	large_intestine(1)	1						c.(1324-1326)GAG>GAT		oxysterol binding protein							70.0	67.0	68.0					11																	59361714		2201	4295	6496	SO:0001583	missense	5007				lipid transport	Golgi membrane	oxysterol binding	g.chr11:59361714C>A	AF185696	CCDS7974.1	11q12-q13	2013-01-10			ENSG00000110048	ENSG00000110048		"""Oxysterol binding proteins"", ""Pleckstrin homology (PH) domain containing"""	8503	protein-coding gene	gene with protein product		167040					Standard	NM_002556		Approved	OSBP1	uc001noc.1	P22059	OTTHUMG00000167422	ENST00000263847.1:c.1326G>T	11.37:g.59361714C>A	ENSP00000263847:p.Glu442Asp					OSBP_uc009ymr.1_RNA	p.E442D	NM_002556	NP_002547	P22059	OSBP1_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.00607)|LUSC - Lung squamous cell carcinoma(625;0.207)	8	1806	-		all_epithelial(135;0.000236)	442			Sterol binding (By similarity).		Q6P524	Missense_Mutation	SNP	ENST00000263847.1	37	c.1326G>T	CCDS7974.1	.	.	.	.	.	.	.	.	.	.	C	22.8	4.335108	0.81801	.	.	ENSG00000110048	ENST00000263847	T	0.41065	1.01	6.02	3.14	0.36123	.	0.000000	0.85682	D	0.000000	T	0.74068	0.3668	H	0.98089	4.145	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.79188	-0.1906	10	0.87932	D	0	-30.9216	9.4062	0.38462	0.0:0.7248:0.0:0.2752	.	442	P22059	OSBP1_HUMAN	D	442	ENSP00000263847:E442D	ENSP00000263847:E442D	E	-	3	2	OSBP	59118290	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	2.148000	0.42235	0.893000	0.36288	0.650000	0.86243	GAG		PASS	0.373	OSBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394555.1			31	63	31	63	---	---	---	---
VWCE	220001	broad.mit.edu	37	11	61049333	61049333	+	Missense_Mutation	SNP	G	G	A			TCGA-66-2756-01A-01D-1522-08	TCGA-66-2756-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	472c95e6-eccb-4988-be16-fdace73b2ed8	ff4f5936-f847-42ad-aedf-6a6a7fff6002	g.chr11:61049333G>A	ENST00000335613.5	-	7	1098	c.712C>T	c.(712-714)Cac>Tac	p.H238Y		NM_152718.2	NP_689931.2	Q96DN2	VWCE_HUMAN	von Willebrand factor C and EGF domains	238	EGF-like 4; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.					extracellular region (GO:0005576)	calcium ion binding (GO:0005509)	p.H238Y(1)		biliary_tract(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(17)|ovary(3)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	37						ACGGTGTTGTGGCAGGAATGG	0.622																																						uc001nra.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(712-714)CAC>TAC		von Willebrand factor C and EGF domains							113.0	91.0	98.0					11																	61049333		2203	4299	6502	SO:0001583	missense	220001					extracellular region	calcium ion binding	g.chr11:61049333G>A	AK056571	CCDS8002.1	11q12.2	2006-08-04			ENSG00000167992	ENSG00000167992			26487	protein-coding gene	gene with protein product		611115				12869306	Standard	NM_152718		Approved	URG11, FLJ32009, VWC1	uc001nra.3	Q96DN2	OTTHUMG00000168208	ENST00000335613.5:c.712C>T	11.37:g.61049333G>A	ENSP00000334186:p.His238Tyr					VWCE_uc001nrb.2_RNA	p.H238Y	NM_152718	NP_689931	Q96DN2	VWCE_HUMAN			7	991	-			238			EGF-like 4; calcium-binding (Potential).		A5PKV0|Q7Z7L6|Q86WK8	Missense_Mutation	SNP	ENST00000335613.5	37	c.712C>T	CCDS8002.1	.	.	.	.	.	.	.	.	.	.	G	14.52	2.561180	0.45590	.	.	ENSG00000167992	ENST00000335613	D	0.85556	-2.0	4.71	3.79	0.43588	EGF-like calcium-binding, conserved site (1);EGF-like calcium-binding (2);Epidermal growth factor-like, type 3 (1);	0.244683	0.29822	N	0.011108	T	0.75155	0.3811	L	0.39397	1.21	0.80722	D	1	B	0.15719	0.014	B	0.19666	0.026	T	0.65274	-0.6208	10	0.02654	T	1	.	11.5776	0.50873	0.0897:0.0:0.9103:0.0	.	238	Q96DN2	VWCE_HUMAN	Y	238	ENSP00000334186:H238Y	ENSP00000334186:H238Y	H	-	1	0	VWCE	60805909	1.000000	0.71417	0.998000	0.56505	0.996000	0.88848	2.405000	0.44548	2.353000	0.79882	0.561000	0.74099	CAC		PASS	0.622	VWCE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398811.1	NM_152718		5	38	5	38	---	---	---	---
TUT1	64852	broad.mit.edu	37	11	62344195	62344195	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2756-01A-01D-1522-08	TCGA-66-2756-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	472c95e6-eccb-4988-be16-fdace73b2ed8	ff4f5936-f847-42ad-aedf-6a6a7fff6002	g.chr11:62344195C>A	ENST00000476907.1	-	8	2099	c.1408G>T	c.(1408-1410)Ggc>Tgc	p.G470C	EEF1G_ENST00000378019.3_5'Flank|EEF1G_ENST00000532986.1_5'Flank|MIR3654_ENST00000496634.2_Missense_Mutation_p.G470C|EEF1G_ENST00000329251.4_5'Flank|TUT1_ENST00000308436.7_Missense_Mutation_p.G508C			Q9H6E5	STPAP_HUMAN	terminal uridylyl transferase 1, U6 snRNA-specific	470					mRNA cleavage (GO:0006379)|mRNA polyadenylation (GO:0006378)|snRNA processing (GO:0016180)	intercellular bridge (GO:0045171)|nuclear speck (GO:0016607)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|enzyme binding (GO:0019899)|metal ion binding (GO:0046872)|mRNA 3'-UTR binding (GO:0003730)|polynucleotide adenylyltransferase activity (GO:0004652)|RNA binding (GO:0003723)|RNA uridylyltransferase activity (GO:0050265)	p.G470C(1)|p.G508C(1)		breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	29						CAGTCCCAGCCATCGACTTCC	0.527																																						uc001nto.2																			2	Substitution - Missense(2)		lung(2)	central_nervous_system(1)|skin(1)	2						c.(1522-1524)GGC>TGC		terminal uridylyl transferase 1, U6							89.0	79.0	82.0					11																	62344195		2202	4299	6501	SO:0001583	missense	64852				mRNA cleavage|mRNA polyadenylation|snRNA processing	nuclear speck|nucleolus	ATP binding|enzyme binding|mRNA 3'-UTR binding|polynucleotide adenylyltransferase activity|RNA uridylyltransferase activity|zinc ion binding	g.chr11:62344195C>A	BC005013	CCDS8021.1, CCDS8021.2	11q12.2	2014-03-05	2006-10-06	2006-10-06	ENSG00000149016	ENSG00000149016	2.7.7.52	"""RNA binding motif (RRM) containing"""	26184	protein-coding gene	gene with protein product	"""RNA uridylyltransferase"", ""U6 TUTase"", ""TUTase 6"""	610641	"""RNA binding motif protein 21"""	RBM21		16790842	Standard	NM_022830		Approved	FLJ22347, FLJ22267, FLJ21850, PAPD2, TUTase	uc001nto.2	Q9H6E5	OTTHUMG00000158564	ENST00000476907.1:c.1408G>T	11.37:g.62344195C>A	ENSP00000419607:p.Gly470Cys					EEF1G_uc001ntm.1_5'Flank|EEF1G_uc010rlw.1_5'Flank|TUT1_uc001ntp.1_5'UTR	p.G508C	NM_022830	NP_073741	Q9H6E5	STPAP_HUMAN			8	1560	-			470					A1A527|A8K995|Q2NL65|Q7L583|Q9H6H7	Missense_Mutation	SNP	ENST00000476907.1	37	c.1522G>T		.	.	.	.	.	.	.	.	.	.	C	31	5.098414	0.94197	.	.	ENSG00000149016	ENST00000308436;ENST00000476907	T;T	0.33654	1.4;1.4	5.33	5.33	0.75918	.	0.051720	0.85682	D	0.000000	T	0.68366	0.2993	M	0.93375	3.41	0.49213	D	0.999766	D	0.67145	0.996	D	0.64144	0.922	T	0.77558	-0.2543	10	0.87932	D	0	-17.7069	16.8861	0.86076	0.0:1.0:0.0:0.0	.	508	F5H0R1	.	C	508;470	ENSP00000308000:G508C;ENSP00000419607:G470C	ENSP00000441670:G470C	G	-	1	0	TUT1	62100771	1.000000	0.71417	0.999000	0.59377	0.949000	0.60115	6.895000	0.75660	2.665000	0.90641	0.655000	0.94253	GGC		PASS	0.527	TUT1-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000351319.2	NM_022830		37	72	37	72	---	---	---	---
EML3	256364	broad.mit.edu	37	11	62373335	62373335	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2756-01A-01D-1522-08	TCGA-66-2756-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	472c95e6-eccb-4988-be16-fdace73b2ed8	ff4f5936-f847-42ad-aedf-6a6a7fff6002	g.chr11:62373335C>T	ENST00000394773.2	-	14	2081	c.1774G>A	c.(1774-1776)Gta>Ata	p.V592I	EML3_ENST00000494176.2_Missense_Mutation_p.V564I|EML3_ENST00000529309.1_Missense_Mutation_p.V592I|EML3_ENST00000278845.4_Missense_Mutation_p.V593I|EML3_ENST00000531557.1_Missense_Mutation_p.V375I|EML3_ENST00000438258.1_5'Flank|RP11-831H9.3_ENST00000532626.1_RNA	NM_153265.2	NP_694997.2	Q32P44	EMAL3_HUMAN	echinoderm microtubule associated protein like 3	592						cytoplasm (GO:0005737)|microtubule (GO:0005874)		p.V592I(1)		biliary_tract(1)|breast(3)|endometrium(4)|kidney(2)|large_intestine(1)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26						ACCTGGATTACAGGGGAGAAG	0.612																																						uc001ntu.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1774-1776)GTA>ATA		echinoderm microtubule associated protein like							69.0	66.0	67.0					11																	62373335		2202	4299	6501	SO:0001583	missense	256364					cytoplasm|microtubule	protein binding	g.chr11:62373335C>T	AK093146	CCDS8023.2	11q12.3	2013-01-10			ENSG00000149499	ENSG00000149499		"""WD repeat domain containing"""	26666	protein-coding gene	gene with protein product						15225882, 14744259	Standard	NM_153265		Approved	FLJ35827, ELP95	uc001ntu.1	Q32P44	OTTHUMG00000149817	ENST00000394773.2:c.1774G>A	11.37:g.62373335C>T	ENSP00000378254:p.Val592Ile					EML3_uc001ntr.1_Missense_Mutation_p.V564I|EML3_uc001nts.1_Missense_Mutation_p.V564I|EML3_uc001ntt.1_Missense_Mutation_p.V476I|EML3_uc010rly.1_Missense_Mutation_p.V592I	p.V592I	NM_153265	NP_694997	Q32P44	EMAL3_HUMAN			14	2082	-			592					Q6ZQW7|Q8NA55	Missense_Mutation	SNP	ENST00000394773.2	37	c.1774G>A	CCDS8023.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	0.907|0.907	-0.720227|-0.720227	0.03182|0.03182	.|.	.|.	ENSG00000149499|ENSG00000149499	ENST00000394776|ENST00000394773;ENST00000278845;ENST00000531557;ENST00000494176;ENST00000529309	.|T;T;T;T;T	.|0.61040	.|1.04;1.04;0.14;0.14;0.14	5.05|5.05	4.13|4.13	0.48395|0.48395	.|WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	.|0.207580	.|0.39687	.|N	.|0.001285	T|T	0.32496|0.32496	0.0831|0.0831	N|N	0.13352|0.13352	0.335|0.335	0.26044|0.26044	N|N	0.981577|0.981577	.|B;B;B;B;B	.|0.33940	.|0.026;0.037;0.004;0.022;0.433	.|B;B;B;B;B	.|0.28305	.|0.023;0.088;0.009;0.049;0.05	T|T	0.26950|0.26950	-1.0088|-1.0088	5|10	.|0.02654	.|T	.|1	-11.5234|-11.5234	12.6858|12.6858	0.56946|0.56946	0.166:0.834:0.0:0.0|0.166:0.834:0.0:0.0	.|.	.|592;592;375;593;564	.|Q32P44-2;Q32P44;G3V195;B7WPE2;G3V1D0	.|.;EMAL3_HUMAN;.;.;.	Y|I	586|592;593;375;564;592	.|ENSP00000378254:V592I;ENSP00000278845:V593I;ENSP00000433417:V375I;ENSP00000435064:V564I;ENSP00000434513:V592I	.|ENSP00000278845:V593I	C|V	-|-	2|1	0|0	EML3|EML3	62129911|62129911	0.962000|0.962000	0.33011|0.33011	0.770000|0.770000	0.31555|0.31555	0.406000|0.406000	0.30931|0.30931	1.911000|1.911000	0.39937|0.39937	1.108000|1.108000	0.41662|0.41662	-0.310000|-0.310000	0.09108|0.09108	TGT|GTA		PASS	0.612	EML3-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000313432.1	NM_153265		26	82	26	82	---	---	---	---
INTS5	80789	broad.mit.edu	37	11	62415076	62415076	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2756-01A-01D-1522-08	TCGA-66-2756-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	472c95e6-eccb-4988-be16-fdace73b2ed8	ff4f5936-f847-42ad-aedf-6a6a7fff6002	g.chr11:62415076C>T	ENST00000330574.2	-	2	2528	c.2476G>A	c.(2476-2478)Ggt>Agt	p.G826S	GANAB_ENST00000346178.4_5'Flank|GANAB_ENST00000356638.3_5'Flank|GANAB_ENST00000534779.1_5'Flank|GANAB_ENST00000540933.1_5'Flank	NM_030628.1	NP_085131.1	Q6P9B9	INT5_HUMAN	integrator complex subunit 5	826					snRNA processing (GO:0016180)	integral component of membrane (GO:0016021)|integrator complex (GO:0032039)|membrane (GO:0016020)		p.G826S(1)		breast(1)|endometrium(4)|large_intestine(6)|lung(20)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	36						AGCTCTGCACCAGCTGCATCG	0.652																																						uc001nud.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(2476-2478)GGT>AGT		integrator complex subunit 5							66.0	70.0	69.0					11																	62415076		2202	4299	6501	SO:0001583	missense	80789				snRNA processing	integral to membrane|integrator complex	protein binding	g.chr11:62415076C>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.2476G>A	11.37:g.62415076C>T	ENSP00000327889:p.Gly826Ser					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.G826S	NM_030628	NP_085131	Q6P9B9	INT5_HUMAN			2	2529	-			826					Q8N6W5|Q9C0G5	Missense_Mutation	SNP	ENST00000330574.2	37	c.2476G>A	CCDS8027.1	.	.	.	.	.	.	.	.	.	.	C	9.998	1.232762	0.22626	.	.	ENSG00000185085	ENST00000330574	.	.	.	5.43	5.43	0.79202	.	0.121135	0.64402	D	0.000019	T	0.22589	0.0545	N	0.08118	0	0.37704	D	0.924323	B	0.33238	0.403	B	0.25405	0.06	T	0.22103	-1.0226	9	0.17369	T	0.5	.	10.0436	0.42173	0.0:0.9114:0.0:0.0886	.	826	Q6P9B9	INT5_HUMAN	S	826	.	ENSP00000327889:G826S	G	-	1	0	INTS5	62171652	1.000000	0.71417	1.000000	0.80357	0.901000	0.52897	3.948000	0.56660	2.823000	0.97156	0.650000	0.86243	GGT		PASS	0.652	INTS5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395327.1	NM_030628		49	102	49	102	---	---	---	---
SLC22A8	9376	broad.mit.edu	37	11	62760744	62760744	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2756-01A-01D-1522-08	TCGA-66-2756-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	472c95e6-eccb-4988-be16-fdace73b2ed8	ff4f5936-f847-42ad-aedf-6a6a7fff6002	g.chr11:62760744G>T	ENST00000336232.2	-	11	1729	c.1594C>A	c.(1594-1596)Cta>Ata	p.L532I	SLC22A8_ENST00000535878.1_Missense_Mutation_p.L409I|SLC22A8_ENST00000545207.1_Missense_Mutation_p.L441I|SLC22A8_ENST00000542795.1_5'Flank|SLC22A8_ENST00000311438.8_3'UTR|SLC22A8_ENST00000430500.2_Missense_Mutation_p.L532I	NM_001184732.1|NM_001184736.1|NM_004254.3	NP_001171661.1|NP_001171665.1|NP_004245.2	Q8TCC7	S22A8_HUMAN	solute carrier family 22 (organic anion transporter), member 8	532					glutathione transport (GO:0034635)|response to methotrexate (GO:0031427)|response to toxic substance (GO:0009636)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	inorganic anion exchanger activity (GO:0005452)|organic anion transmembrane transporter activity (GO:0008514)|quaternary ammonium group transmembrane transporter activity (GO:0015651)	p.L532I(1)		endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	28					Aciclovir(DB00787)|Adefovir Dipivoxil(DB00718)|Allopurinol(DB00437)|Aminohippurate(DB00345)|Aspartame(DB00168)|Baclofen(DB00181)|Benzylpenicillin(DB01053)|Bumetanide(DB00887)|Cefacetrile(DB01414)|Cefadroxil(DB01140)|Cefalotin(DB00456)|Cefamandole(DB01326)|Cefazolin(DB01327)|Cefoperazone(DB01329)|Cefotaxime(DB00493)|Ceftriaxone(DB01212)|Cephalexin(DB00567)|Cilastatin(DB01597)|Cimetidine(DB00501)|Conjugated Estrogens(DB00286)|Dabrafenib(DB08912)|Diclofenac(DB00586)|Digoxin(DB00390)|Dinoprost Tromethamine(DB01160)|Dinoprostone(DB00917)|Doxycycline(DB00254)|Enalapril(DB00584)|Estradiol(DB00783)|Famotidine(DB00927)|Furosemide(DB00695)|Ganciclovir(DB01004)|Guanidine(DB00536)|Ibuprofen(DB01050)|Indomethacin(DB00328)|Ketoprofen(DB01009)|L-Carnitine(DB00583)|Liothyronine(DB00279)|Liotrix(DB01583)|Melatonin(DB01065)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|Methyltestosterone(DB06710)|Minocycline(DB01017)|Novobiocin(DB01051)|Oseltamivir(DB00198)|Ouabain(DB01092)|Oxytetracycline(DB00595)|Phenylbutazone(DB00812)|Piroxicam(DB00554)|Pravastatin(DB00175)|Probenecid(DB01032)|Quinidine(DB00908)|Ranitidine(DB00863)|Salicylic acid(DB00936)|Saxagliptin(DB06335)|Succinic acid(DB00139)|Tenofovir(DB00300)|Tenoxicam(DB00469)|Testosterone(DB00624)|Tetracycline(DB00759)|Valaciclovir(DB00577)|Valproic Acid(DB00313)|Zidovudine(DB00495)	TGAGGCTGTAGAGGGATCCTC	0.602																																						uc001nwo.2																			1	Substitution - Missense(1)		lung(1)	skin(2)|ovary(1)	3						c.(1594-1596)CTA>ATA		solute carrier family 22 member 8							55.0	54.0	55.0					11																	62760744		2201	4298	6499	SO:0001583	missense	9376				response to toxin	basolateral plasma membrane|integral to plasma membrane|membrane fraction	inorganic anion exchanger activity|organic anion transmembrane transporter activity	g.chr11:62760744G>T	AF097491, BC022387	CCDS8042.1, CCDS53643.1, CCDS53644.1	11q12.3	2013-05-22			ENSG00000149452	ENSG00000149452		"""Solute carriers"""	10972	protein-coding gene	gene with protein product		607581				10049739	Standard	NM_004254		Approved	OAT3	uc001nwo.3	Q8TCC7	OTTHUMG00000167768	ENST00000336232.2:c.1594C>A	11.37:g.62760744G>T	ENSP00000337335:p.Leu532Ile					SLC22A8_uc001nwn.1_3'UTR|SLC22A8_uc001nwp.2_3'UTR|SLC22A8_uc009yom.2_Missense_Mutation_p.L409I|SLC22A8_uc010rmm.1_Missense_Mutation_p.L441I|SLC22A8_uc009yon.2_Missense_Mutation_p.L532I	p.L532I	NM_004254	NP_004245	Q8TCC7	S22A8_HUMAN			11	1730	-			532			Extracellular (Potential).		B4DPH7|F5GWA8|F5H5J1|O95820|Q59EW9|Q96TC1	Missense_Mutation	SNP	ENST00000336232.2	37	c.1594C>A	CCDS8042.1	.	.	.	.	.	.	.	.	.	.	G	20.1	3.934410	0.73442	.	.	ENSG00000149452	ENST00000336232;ENST00000540631;ENST00000545207;ENST00000535878;ENST00000430500	T;T;T;T	0.67865	-0.25;-0.29;-0.24;-0.25	4.93	4.93	0.64822	.	0.539313	0.17299	N	0.179326	T	0.65037	0.2653	N	0.08118	0	0.29048	N	0.884665	D	0.67145	0.996	D	0.67900	0.954	T	0.63559	-0.6610	10	0.52906	T	0.07	.	14.371	0.66840	0.0:0.0:1.0:0.0	.	532	Q8TCC7	S22A8_HUMAN	I	532;518;441;409;532	ENSP00000337335:L532I;ENSP00000441658:L441I;ENSP00000443368:L409I;ENSP00000398548:L532I	ENSP00000337335:L532I	L	-	1	2	SLC22A8	62517320	1.000000	0.71417	0.998000	0.56505	0.710000	0.40934	3.144000	0.50616	2.665000	0.90641	0.561000	0.74099	CTA		PASS	0.602	SLC22A8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396191.1	NM_004254		7	35	7	35	---	---	---	---
NRXN2	9379	broad.mit.edu	37	11	64419624	64419624	+	Missense_Mutation	SNP	T	T	C			TCGA-66-2756-01A-01D-1522-08	TCGA-66-2756-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	472c95e6-eccb-4988-be16-fdace73b2ed8	ff4f5936-f847-42ad-aedf-6a6a7fff6002	g.chr11:64419624T>C	ENST00000377551.1	-	12	2630	c.2419A>G	c.(2419-2421)Aaa>Gaa	p.K807E	AP001092.4_ENST00000433606.1_RNA|NRXN2_ENST00000409571.1_Missense_Mutation_p.K800E|NRXN2_ENST00000377559.3_Missense_Mutation_p.K767E|NRXN2_ENST00000265459.6_Missense_Mutation_p.K807E			Q9P2S2	NRX2A_HUMAN	neurexin 2	807	Laminin G-like 4. {ECO:0000255|PROSITE- ProRule:PRU00122}.				adult behavior (GO:0030534)|gephyrin clustering (GO:0097116)|neuroligin clustering (GO:0097118)|neuron cell-cell adhesion (GO:0007158)|neurotransmitter secretion (GO:0007269)|postsynaptic density protein 95 clustering (GO:0097119)|postsynaptic membrane assembly (GO:0097104)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)|vocal learning (GO:0042297)|vocalization behavior (GO:0071625)	integral component of membrane (GO:0016021)	calcium channel regulator activity (GO:0005246)|cell adhesion molecule binding (GO:0050839)|metal ion binding (GO:0046872)|neuroligin family protein binding (GO:0097109)	p.K807E(1)		breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(6)|urinary_tract(1)	71						TCGGGGCCTTTACCTGCGGCA	0.582																																						uc001oar.2																			1	Substitution - Missense(1)		lung(1)	upper_aerodigestive_tract(2)|central_nervous_system(2)|skin(2)|ovary(2)|kidney(1)|pancreas(1)	10						c.(2419-2421)AAA>GAA		neurexin 2 isoform alpha-1 precursor							62.0	47.0	52.0					11																	64419624		2201	4297	6498	SO:0001583	missense	9379				cell adhesion	integral to membrane		g.chr11:64419624T>C		CCDS8077.1, CCDS31597.1, CCDS8078.1	11q13	2008-07-18			ENSG00000110076	ENSG00000110076			8009	protein-coding gene	gene with protein product	"""neurexin II"""	600566				1621094	Standard	NM_015080		Approved		uc021qkw.1	P58401	OTTHUMG00000045214	ENST00000377551.1:c.2419A>G	11.37:g.64419624T>C	ENSP00000366774:p.Lys807Glu					NRXN2_uc001oas.2_Missense_Mutation_p.K767E|NRXN2_uc001oaq.2_Missense_Mutation_p.K474E	p.K807E	NM_015080	NP_055895	P58401	NRX2B_HUMAN			14	2858	-			Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					A7E2C1|Q9Y2D6	Missense_Mutation	SNP	ENST00000377551.1	37	c.2419A>G	CCDS8077.1	.	.	.	.	.	.	.	.	.	.	T	26.5	4.747759	0.89663	.	.	ENSG00000110076	ENST00000377551;ENST00000377559;ENST00000265459;ENST00000345863;ENST00000409571	T;T;T;T	0.79352	-1.05;-1.26;-1.05;-1.05	4.91	4.91	0.64330	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 2 (1);	0.316889	0.17296	U	0.179444	D	0.86037	0.5837	M	0.68593	2.085	0.54753	D	0.999989	D;D;D	0.89917	0.996;0.994;1.0	D;D;D	0.87578	0.996;0.932;0.998	D	0.86076	0.1541	10	0.56958	D	0.05	.	12.5232	0.56072	0.0:0.0:0.0:1.0	.	767;807;553	Q9P2S2-2;Q9P2S2;E7EV67	.;NRX2A_HUMAN;.	E	807;767;807;767;800	ENSP00000366774:K807E;ENSP00000366782:K767E;ENSP00000265459:K807E;ENSP00000386416:K800E	ENSP00000265459:K807E	K	-	1	0	NRXN2	64176200	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.826000	0.86716	2.063000	0.61619	0.459000	0.35465	AAA		PASS	0.582	NRXN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000104967.3	NM_015080		9	31	9	31	---	---	---	---
NPAS4	266743	broad.mit.edu	37	11	66191304	66191304	+	Splice_Site	SNP	A	A	T			TCGA-66-2756-01A-01D-1522-08	TCGA-66-2756-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	472c95e6-eccb-4988-be16-fdace73b2ed8	ff4f5936-f847-42ad-aedf-6a6a7fff6002	g.chr11:66191304A>T	ENST00000311034.2	+	7	1120		c.e7-1			NM_178864.3	NP_849195.2	Q8IUM7	NPAS4_HUMAN	neuronal PAS domain protein 4						positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|signal transducer activity (GO:0004871)	p.?(1)		breast(4)|endometrium(2)|kidney(3)|large_intestine(11)|liver(2)|lung(20)|ovary(1)|prostate(3)|skin(3)	49						TCTCCTCTCCAGTGACATGGA	0.577																																						uc001ohx.1																			1	Unknown(1)		lung(1)		0						c.e7-2		neuronal PAS domain protein 4							63.0	64.0	63.0					11																	66191304		2200	4295	6495	SO:0001630	splice_region_variant	266743				transcription, DNA-dependent		DNA binding|signal transducer activity	g.chr11:66191304A>T	AB049469	CCDS8138.1	11q13.2	2013-05-21			ENSG00000174576	ENSG00000174576		"""Basic helix-loop-helix proteins"""	18983	protein-coding gene	gene with protein product		608554				14701734	Standard	NM_178864		Approved	PASD10, NXF, Le-PAS, bHLHe79	uc001ohx.1	Q8IUM7	OTTHUMG00000167045	ENST00000311034.2:c.945-1A>T	11.37:g.66191304A>T						NPAS4_uc010rpc.1_Splice_Site_p.S105_splice	p.S315_splice	NM_178864	NP_849195	Q8IUM7	NPAS4_HUMAN			7	1121	+								B7ZL81|Q8N8S5|Q8N9Q9	Splice_Site	SNP	ENST00000311034.2	37	c.945_splice	CCDS8138.1	.	.	.	.	.	.	.	.	.	.	A	16.07	3.017887	0.54576	.	.	ENSG00000174576	ENST00000311034	.	.	.	4.71	4.71	0.59529	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.4518	0.55681	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	NPAS4	65947880	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	7.311000	0.78958	2.107000	0.64212	0.459000	0.35465	.		PASS	0.577	NPAS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392634.1	NM_178864	Intron	71	62	71	62	---	---	---	---
NPAS4	266743	broad.mit.edu	37	11	66192136	66192136	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2756-01A-01D-1522-08	TCGA-66-2756-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	472c95e6-eccb-4988-be16-fdace73b2ed8	ff4f5936-f847-42ad-aedf-6a6a7fff6002	g.chr11:66192136C>G	ENST00000311034.2	+	7	1951	c.1775C>G	c.(1774-1776)gCc>gGc	p.A592G		NM_178864.3	NP_849195.2	Q8IUM7	NPAS4_HUMAN	neuronal PAS domain protein 4	592					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|signal transducer activity (GO:0004871)	p.A592G(1)		breast(4)|endometrium(2)|kidney(3)|large_intestine(11)|liver(2)|lung(20)|ovary(1)|prostate(3)|skin(3)	49						TTGGCCCTAGCCCAGCTCCGG	0.587																																						uc001ohx.1																			1	Substitution - Missense(1)		lung(1)		0						c.(1774-1776)GCC>GGC		neuronal PAS domain protein 4							70.0	80.0	77.0					11																	66192136		2200	4295	6495	SO:0001583	missense	266743				transcription, DNA-dependent		DNA binding|signal transducer activity	g.chr11:66192136C>G	AB049469	CCDS8138.1	11q13.2	2013-05-21			ENSG00000174576	ENSG00000174576		"""Basic helix-loop-helix proteins"""	18983	protein-coding gene	gene with protein product		608554				14701734	Standard	NM_178864		Approved	PASD10, NXF, Le-PAS, bHLHe79	uc001ohx.1	Q8IUM7	OTTHUMG00000167045	ENST00000311034.2:c.1775C>G	11.37:g.66192136C>G	ENSP00000311196:p.Ala592Gly					NPAS4_uc010rpc.1_Missense_Mutation_p.A382G	p.A592G	NM_178864	NP_849195	Q8IUM7	NPAS4_HUMAN			7	1951	+			592					B7ZL81|Q8N8S5|Q8N9Q9	Missense_Mutation	SNP	ENST00000311034.2	37	c.1775C>G	CCDS8138.1	.	.	.	.	.	.	.	.	.	.	C	17.08	3.297808	0.60086	.	.	ENSG00000174576	ENST00000311034	T	0.49432	0.78	4.69	4.69	0.59074	.	0.000000	0.56097	D	0.000037	T	0.39064	0.1064	N	0.14661	0.345	0.40699	D	0.982462	D	0.53151	0.958	P	0.48552	0.581	T	0.35500	-0.9786	10	0.41790	T	0.15	-11.0232	15.1587	0.72764	0.0:1.0:0.0:0.0	.	592	Q8IUM7	NPAS4_HUMAN	G	592	ENSP00000311196:A592G	ENSP00000311196:A592G	A	+	2	0	NPAS4	65948712	1.000000	0.71417	1.000000	0.80357	1.000000	0.99986	6.364000	0.73086	2.443000	0.82685	0.655000	0.94253	GCC		PASS	0.587	NPAS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392634.1	NM_178864		73	103	73	103	---	---	---	---
MRPL11	65003	broad.mit.edu	37	11	66206131	66206131	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2756-01A-01D-1522-08	TCGA-66-2756-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	472c95e6-eccb-4988-be16-fdace73b2ed8	ff4f5936-f847-42ad-aedf-6a6a7fff6002	g.chr11:66206131C>A	ENST00000310999.7	-	1	188	c.95G>T	c.(94-96)gGg>gTg	p.G32V	MRPL11_ENST00000329819.4_Missense_Mutation_p.G32V|MRPL11_ENST00000524576.1_Intron|MRPL11_ENST00000430466.2_Intron	NM_016050.3	NP_057134.1	Q9Y3B7	RM11_HUMAN	mitochondrial ribosomal protein L11	32					translation (GO:0006412)	mitochondrial ribosome (GO:0005761)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)	p.G32V(2)		endometrium(3)|lung(2)|ovary(1)|prostate(1)	7						TAGTGGGGGCCCGGGCATGGC	0.721																																						uc001ohz.3																			2	Substitution - Missense(2)		lung(2)		0						c.(94-96)GGG>GTG		mitochondrial ribosomal protein L11 isoform a							14.0	18.0	16.0					11																	66206131		2040	4153	6193	SO:0001583	missense	65003				translation		structural constituent of ribosome	g.chr11:66206131C>A	AB051338	CCDS8139.1, CCDS8140.1, CCDS44655.1	11q13.2	2012-11-14			ENSG00000174547	ENSG00000174547		"""Mitochondrial ribosomal proteins / large subunits"""	14042	protein-coding gene	gene with protein product		611826					Standard	XR_247672		Approved		uc001ohz.4	Q9Y3B7	OTTHUMG00000167097	ENST00000310999.7:c.95G>T	11.37:g.66206131C>A	ENSP00000308897:p.Gly32Val					MRPL11_uc001ohy.3_Missense_Mutation_p.G32V|MRPL11_uc001oia.3_Intron	p.G32V	NM_016050	NP_057134	Q9Y3B7	RM11_HUMAN			1	180	-			32					A6NLT0|A8K219|Q32P46|Q96Q73	Missense_Mutation	SNP	ENST00000310999.7	37	c.95G>T	CCDS8139.1	.	.	.	.	.	.	.	.	.	.	C	21.7	4.187039	0.78789	.	.	ENSG00000174547	ENST00000310999;ENST00000329819	.	.	.	5.73	4.76	0.60689	Ribosomal protein L11, N-terminal (3);	0.000000	0.85682	D	0.000000	D	0.84151	0.5409	M	0.91920	3.255	0.80722	D	1	D;D	0.71674	0.998;0.998	D;D	0.79108	0.992;0.992	D	0.86801	0.1992	9	0.66056	D	0.02	-14.8265	13.2366	0.59972	0.1595:0.8405:0.0:0.0	.	32;32	Q9Y3B7;A6NLT0	RM11_HUMAN;.	V	32	.	ENSP00000308897:G32V	G	-	2	0	MRPL11	65962707	1.000000	0.71417	0.997000	0.53966	0.482000	0.33219	5.274000	0.65569	2.700000	0.92200	0.655000	0.94253	GGG		PASS	0.721	MRPL11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393098.2	NM_016050		14	18	14	18	---	---	---	---
CARNS1	57571	broad.mit.edu	37	11	67191123	67191123	+	Nonsense_Mutation	SNP	T	T	A			TCGA-66-2756-01A-01D-1522-08	TCGA-66-2756-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	472c95e6-eccb-4988-be16-fdace73b2ed8	ff4f5936-f847-42ad-aedf-6a6a7fff6002	g.chr11:67191123T>A	ENST00000307823.3	+	9	1987	c.1535T>A	c.(1534-1536)tTg>tAg	p.L512*	CARNS1_ENST00000423745.2_Nonsense_Mutation_p.L512*|CARNS1_ENST00000531040.1_Nonsense_Mutation_p.L609*|CARNS1_ENST00000445895.2_Nonsense_Mutation_p.L635*|CARNS1_ENST00000524740.1_3'UTR	NM_020811.1	NP_065862.1	A5YM72	CRNS1_HUMAN	carnosine synthase 1	512					ATP catabolic process (GO:0006200)|carnosine biosynthetic process (GO:0035499)		ATP binding (GO:0005524)|ATPase activity (GO:0016887)|carnosine synthase activity (GO:0047730)|metal ion binding (GO:0046872)	p.L70*(1)|p.L635*(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(7)	11						CTGCACCTGTTGCACCACCAT	0.662																																						uc009yrp.2																			2	Substitution - Nonsense(2)		lung(2)		0						c.(1534-1536)TTG>TAG		ATP-grasp domain containing 1							22.0	27.0	25.0					11																	67191123		2152	4247	6399	SO:0001587	stop_gained	57571				carnosine biosynthetic process		ATP binding|carnosine synthase activity|metal ion binding	g.chr11:67191123T>A		CCDS44658.1, CCDS53667.1	11q13.1	2010-03-25	2010-03-25	2010-03-25	ENSG00000172508	ENSG00000172508			29268	protein-coding gene	gene with protein product		613368	"""ATP-grasp domain containing 1"""	ATPGD1		20097752	Standard	NM_020811		Approved	KIAA1394	uc010rpr.2	A5YM72		ENST00000307823.3:c.1535T>A	11.37:g.67191123T>A	ENSP00000308268:p.Leu512*					PPP1CA_uc001okx.1_5'Flank|CARNS1_uc001olc.3_Nonsense_Mutation_p.L651*	p.L512*	NM_020811	NP_065862	A5YM72	CRNS1_HUMAN			9	1987	+			512					A8K1M3|B4DFC6|E9PK38|F5H427|Q8N467|Q9P2F3	Nonsense_Mutation	SNP	ENST00000307823.3	37	c.1535T>A	CCDS44658.1	.	.	.	.	.	.	.	.	.	.	T	32	5.176855	0.94846	.	.	ENSG00000172508	ENST00000531040;ENST00000307823;ENST00000542831;ENST00000423745;ENST00000445895	.	.	.	5.37	4.24	0.50183	.	0.000000	0.37304	N	0.002143	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-4.0722	10.0582	0.42259	0.0:0.081:0.0:0.919	.	.	.	.	X	609;512;609;512;635	.	ENSP00000308268:L512X	L	+	2	0	CARNS1	66947699	0.998000	0.40836	0.078000	0.20375	0.028000	0.11728	2.839000	0.48207	0.888000	0.36160	0.448000	0.29417	TTG		PASS	0.662	CARNS1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000395501.1	NM_020811		5	7	5	7	---	---	---	---
PRCP	5547	broad.mit.edu	37	11	82536067	82536067	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2756-01A-01D-1522-08	TCGA-66-2756-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	472c95e6-eccb-4988-be16-fdace73b2ed8	ff4f5936-f847-42ad-aedf-6a6a7fff6002	g.chr11:82536067C>G	ENST00000313010.3	-	9	1566	c.1372G>C	c.(1372-1374)Gat>Cat	p.D458H	PRCP_ENST00000525772.1_5'UTR|PRCP_ENST00000393399.2_Missense_Mutation_p.D479H|PRCP_ENST00000535099.1_Missense_Mutation_p.D353H	NM_005040.2	NP_005031.1	P42785	PCP_HUMAN	prolylcarboxypeptidase (angiotensinase C)	458					angiogenesis involved in wound healing (GO:0060055)|blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|energy homeostasis (GO:0097009)|glucose homeostasis (GO:0042593)|negative regulation of systemic arterial blood pressure (GO:0003085)|plasma kallikrein-kinin cascade (GO:0002353)|regulation of blood vessel endothelial cell migration (GO:0043535)|regulation of reactive oxygen species metabolic process (GO:2000377)|regulation of thyroid hormone mediated signaling pathway (GO:0002155)	basal part of cell (GO:0045178)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)|plasma membrane (GO:0005886)	serine-type carboxypeptidase activity (GO:0004185)	p.D458H(1)|p.D479H(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(7)|prostate(1)|skin(2)|urinary_tract(1)	17						GTGCGGAGATCTAAGTGGTGG	0.493																																						uc001ozs.2																			2	Substitution - Missense(2)		lung(2)	skin(1)	1						c.(1372-1374)GAT>CAT		prolylcarboxypeptidase isoform 1 preproprotein							102.0	95.0	98.0					11																	82536067		2203	4300	6503	SO:0001583	missense	5547				blood coagulation, intrinsic pathway|proteolysis	lysosome|plasma membrane	protein binding|serine-type carboxypeptidase activity	g.chr11:82536067C>G	BC001500, BI827978, L13977	CCDS8262.1, CCDS41695.1	11q14	2005-10-04				ENSG00000137509			9344	protein-coding gene	gene with protein product		176785				8344943	Standard	NM_199418		Approved	PCP, HUMPCP	uc001ozr.3	P42785		ENST00000313010.3:c.1372G>C	11.37:g.82536067C>G	ENSP00000317362:p.Asp458His					PRCP_uc001ozr.2_Missense_Mutation_p.D479H	p.D458H	NM_005040	NP_005031	P42785	PCP_HUMAN			9	1485	-			458					A8MU24|B2R7B7|B3KRK5|B5BU34	Missense_Mutation	SNP	ENST00000313010.3	37	c.1372G>C	CCDS8262.1	.	.	.	.	.	.	.	.	.	.	C	21.5	4.157019	0.78114	.	.	ENSG00000137509	ENST00000313010;ENST00000393399;ENST00000535099	T;T;T	0.29917	1.55;1.55;1.55	5.71	5.71	0.89125	.	0.000000	0.85682	D	0.000000	T	0.70666	0.3250	H	0.96430	3.82	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.80400	-0.1398	9	.	.	.	-28.7926	19.4522	0.94872	0.0:1.0:0.0:0.0	.	458;479	P42785;A8MU24	PCP_HUMAN;.	H	458;479;353	ENSP00000317362:D458H;ENSP00000377055:D479H;ENSP00000442077:D353H	.	D	-	1	0	PRCP	82213715	1.000000	0.71417	1.000000	0.80357	0.483000	0.33249	6.531000	0.73820	2.687000	0.91594	0.467000	0.42956	GAT		PASS	0.493	PRCP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391792.1	NM_005040		7	45	7	45	---	---	---	---
FAT3	120114	broad.mit.edu	37	11	92543101	92543101	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2756-01A-01D-1522-08	TCGA-66-2756-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	472c95e6-eccb-4988-be16-fdace73b2ed8	ff4f5936-f847-42ad-aedf-6a6a7fff6002	g.chr11:92543101C>A	ENST00000298047.6	+	12	9357	c.9340C>A	c.(9340-9342)Cag>Aag	p.Q3114K	FAT3_ENST00000409404.2_Missense_Mutation_p.Q3114K|FAT3_ENST00000525166.1_Missense_Mutation_p.Q2964K			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	3114	Cadherin 28. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)|multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.Q3114K(2)		NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				CAGGTTCTGCCAGTCCAACAT	0.532										TCGA Ovarian(4;0.039)																												uc001pdj.3																			2	Substitution - Missense(2)		lung(2)	ovary(4)|pancreas(1)	5						c.(9340-9342)CAG>AAG		FAT tumor suppressor homolog 3							78.0	80.0	79.0					11																	92543101		1925	4125	6050	SO:0001583	missense	120114				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding	g.chr11:92543101C>A	AB076400		11q14.3	2013-05-31	2013-05-31		ENSG00000165323	ENSG00000165323		"""Cadherins / Cadherin-related"""	23112	protein-coding gene	gene with protein product	"""cadherin-related family member 10"""	612483	"""FAT tumor suppressor homolog 3 (Drosophila)"""			11811999	Standard	NM_001008781		Approved	KIAA1989, CDHF15, CDHR10	uc001pdj.4	Q8TDW7	OTTHUMG00000154468	ENST00000298047.6:c.9340C>A	11.37:g.92543101C>A	ENSP00000298047:p.Gln3114Lys	TCGA Ovarian(4;0.039)					p.Q3114K	NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN			12	9357	+		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)	3114			Cadherin 28.|Extracellular (Potential).		B5MDB0|Q96AU6	Missense_Mutation	SNP	ENST00000298047.6	37	c.9340C>A		.	.	.	.	.	.	.	.	.	.	C	11.16	1.556952	0.27827	.	.	ENSG00000165323	ENST00000298047;ENST00000409404;ENST00000525166	T;T;T	0.01685	4.69;4.69;4.69	5.16	4.22	0.49857	.	.	.	.	.	T	0.01905	0.0060	N	0.21097	0.63	0.80722	D	1	B	0.16802	0.019	B	0.13407	0.009	T	0.58120	-0.7692	9	0.38643	T	0.18	.	14.5685	0.68197	0.1519:0.848:0.0:0.0	.	3114	Q8TDW7-3	.	K	3114;3114;2964	ENSP00000298047:Q3114K;ENSP00000387040:Q3114K;ENSP00000432586:Q2964K	ENSP00000298047:Q3114K	Q	+	1	0	FAT3	92182749	1.000000	0.71417	0.940000	0.37924	0.182000	0.23217	1.845000	0.39279	1.119000	0.41883	0.563000	0.77884	CAG		PASS	0.532	FAT3-201	KNOWN	basic	protein_coding	protein_coding		NM_001008781		58	59	58	59	---	---	---	---
FAT3	120114	broad.mit.edu	37	11	92616285	92616285	+	Silent	SNP	C	C	G			TCGA-66-2756-01A-01D-1522-08	TCGA-66-2756-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	472c95e6-eccb-4988-be16-fdace73b2ed8	ff4f5936-f847-42ad-aedf-6a6a7fff6002	g.chr11:92616285C>G	ENST00000298047.6	+	23	12680	c.12663C>G	c.(12661-12663)gtC>gtG	p.V4221V	FAT3_ENST00000533797.1_Silent_p.V556V|FAT3_ENST00000409404.2_Silent_p.V4221V|FAT3_ENST00000525166.1_Silent_p.V4071V			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	4221					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.V4221V(2)|p.V796V(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)				GCCGCAACGTCTACCAGGAGG	0.657										TCGA Ovarian(4;0.039)																												uc001pdj.3																			3	Substitution - coding silent(3)		lung(3)	ovary(4)|pancreas(1)	5						c.(12661-12663)GTC>GTG		FAT tumor suppressor homolog 3							57.0	71.0	66.0					11																	92616285		1961	4130	6091	SO:0001819	synonymous_variant	120114				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding	g.chr11:92616285C>G	AB076400		11q14.3	2013-05-31	2013-05-31		ENSG00000165323	ENSG00000165323		"""Cadherins / Cadherin-related"""	23112	protein-coding gene	gene with protein product	"""cadherin-related family member 10"""	612483	"""FAT tumor suppressor homolog 3 (Drosophila)"""			11811999	Standard	NM_001008781		Approved	KIAA1989, CDHF15, CDHR10	uc001pdj.4	Q8TDW7	OTTHUMG00000154468	ENST00000298047.6:c.12663C>G	11.37:g.92616285C>G		TCGA Ovarian(4;0.039)				FAT3_uc001pdi.3_Silent_p.V661V	p.V4221V	NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN			23	12680	+		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)	4221			Cytoplasmic (Potential).		B5MDB0|Q96AU6	Silent	SNP	ENST00000298047.6	37	c.12663C>G																																																																																					PASS	0.657	FAT3-201	KNOWN	basic	protein_coding	protein_coding		NM_001008781		47	76	47	76	---	---	---	---
MTNR1B	4544	broad.mit.edu	37	11	92715461	92715461	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2756-01A-01D-1522-08	TCGA-66-2756-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	472c95e6-eccb-4988-be16-fdace73b2ed8	ff4f5936-f847-42ad-aedf-6a6a7fff6002	g.chr11:92715461C>G	ENST00000257068.2	+	2	1078	c.1072C>G	c.(1072-1074)Cag>Gag	p.Q358E		NM_005959.3	NP_005950.1	P49286	MTR1B_HUMAN	melatonin receptor 1B	358					G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|glucose homeostasis (GO:0042593)|regulation of insulin secretion (GO:0050796)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|melatonin receptor activity (GO:0008502)	p.Q358E(1)		central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(19)|ovary(1)|prostate(2)|urinary_tract(1)	33		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)			Agomelatine(DB06594)|Melatonin(DB01065)|Ramelteon(DB00980)	TGTGCAGCACCAGGCAGATGC	0.597																																						uc001pdk.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.(1072-1074)CAG>GAG		melatonin receptor 1B	Ramelteon(DB00980)						38.0	40.0	39.0					11																	92715461		2201	4298	6499	SO:0001583	missense	4544				G-protein signaling, coupled to cyclic nucleotide second messenger|glucose homeostasis|regulation of insulin secretion|synaptic transmission	integral to plasma membrane	melatonin receptor activity	g.chr11:92715461C>G	AB033598	CCDS8290.1	11q21-q22	2012-08-08			ENSG00000134640	ENSG00000134640		"""GPCR / Class A : Melatonin receptors"""	7464	protein-coding gene	gene with protein product		600804					Standard	NM_005959		Approved		uc001pdk.1	P49286	OTTHUMG00000167364	ENST00000257068.2:c.1072C>G	11.37:g.92715461C>G	ENSP00000257068:p.Gln358Glu						p.Q358E	NM_005959	NP_005950	P49286	MTR1B_HUMAN			2	1175	+		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)	358			Cytoplasmic (Potential).			Missense_Mutation	SNP	ENST00000257068.2	37	c.1072C>G	CCDS8290.1	.	.	.	.	.	.	.	.	.	.	C	12.36	1.915688	0.33815	.	.	ENSG00000134640	ENST00000257068	T	0.72282	-0.64	4.13	-0.219	0.13135	.	1.003210	0.08040	N	0.994908	T	0.54367	0.1854	L	0.32530	0.975	0.09310	N	1	B	0.06786	0.001	B	0.01281	0.0	T	0.37686	-0.9695	10	0.35671	T	0.21	0.3183	3.9615	0.09413	0.3229:0.4804:0.0:0.1966	.	358	P49286	MTR1B_HUMAN	E	358	ENSP00000257068:Q358E	ENSP00000257068:Q358E	Q	+	1	0	MTNR1B	92355109	0.005000	0.15991	0.001000	0.08648	0.590000	0.36582	0.374000	0.20501	0.004000	0.14682	0.313000	0.20887	CAG		PASS	0.597	MTNR1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394323.1			39	68	39	68	---	---	---	---
FOXR1	283150	broad.mit.edu	37	11	118849876	118849876	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2756-01A-01D-1522-08	TCGA-66-2756-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	472c95e6-eccb-4988-be16-fdace73b2ed8	ff4f5936-f847-42ad-aedf-6a6a7fff6002	g.chr11:118849876C>A	ENST00000317011.3	+	3	571	c.346C>A	c.(346-348)Cct>Act	p.P116T		NM_181721.2	NP_859072.1	Q6PIV2	FOXR1_HUMAN	forkhead box R1	116					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.P116T(1)		NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(6)|prostate(1)|skin(1)	16	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.103)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.62e-05)		GCGGTCTCCCCCTCGGAAGCG	0.627																																						uc001pui.2																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(346-348)CCT>ACT		forkhead box R1							60.0	57.0	58.0					11																	118849876		2200	4294	6494	SO:0001583	missense	283150				embryo development|organ development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding	g.chr11:118849876C>A	AB094092	CCDS31688.1	11q23.3	2008-02-05			ENSG00000176302	ENSG00000176302		"""Forkhead boxes"""	29980	protein-coding gene	gene with protein product		615755				15067358	Standard	XM_005271514		Approved	DLNB13, FOXN5	uc001pui.3	Q6PIV2	OTTHUMG00000166347	ENST00000317011.3:c.346C>A	11.37:g.118849876C>A	ENSP00000314806:p.Pro116Thr					FOXR1_uc001puj.2_RNA|FOXR1_uc001puk.2_Silent_p.P22P	p.P116T	NM_181721	NP_859072	Q6PIV2	FOXR1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;7.62e-05)	3	571	+	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.103)|all_neural(223;0.112)	116					B0YJ15|Q08AS8|Q86UT9|Q8IXX2	Missense_Mutation	SNP	ENST00000317011.3	37	c.346C>A	CCDS31688.1	.	.	.	.	.	.	.	.	.	.	C	14.11	2.438039	0.43326	.	.	ENSG00000176302	ENST00000317011	D	0.95171	-3.63	4.54	-0.767	0.11016	.	1.715750	0.02770	N	0.119656	D	0.90878	0.7134	L	0.56769	1.78	0.09310	N	1	B	0.24186	0.099	B	0.22601	0.04	T	0.75425	-0.3322	10	0.10111	T	0.7	.	4.6778	0.12720	0.0:0.4778:0.1533:0.3689	.	116	Q6PIV2	FOXR1_HUMAN	T	116	ENSP00000314806:P116T	ENSP00000314806:P116T	P	+	1	0	FOXR1	118355086	0.004000	0.15560	0.001000	0.08648	0.045000	0.14185	0.455000	0.21843	-0.225000	0.09913	-0.150000	0.13652	CCT		PASS	0.627	FOXR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389312.1	NM_181721		121	33	121	33	---	---	---	---
TECTA	7007	broad.mit.edu	37	11	121060483	121060483	+	Missense_Mutation	SNP	G	G	C			TCGA-66-2756-01A-01D-1522-08	TCGA-66-2756-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	472c95e6-eccb-4988-be16-fdace73b2ed8	ff4f5936-f847-42ad-aedf-6a6a7fff6002	g.chr11:121060483G>C	ENST00000392793.1	+	23	6532	c.6261G>C	c.(6259-6261)tgG>tgC	p.W2087C	TECTA_ENST00000264037.2_Missense_Mutation_p.W2087C			O75443	TECTA_HUMAN	tectorin alpha	2087					cell-matrix adhesion (GO:0007160)|sensory perception of sound (GO:0007605)	anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)		p.W2087C(1)	TECTA/TBCEL(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|liver(1)|lung(46)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	135	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)		GGCTGGACTGGTGTGAGGACA	0.522																																						uc010rzo.1																			1	Substitution - Missense(1)		lung(1)	breast(6)|ovary(2)|skin(2)	10						c.(6259-6261)TGG>TGC		tectorin alpha precursor							151.0	141.0	144.0					11																	121060483		2203	4299	6502	SO:0001583	missense	7007				cell-matrix adhesion|sensory perception of sound	anchored to membrane|plasma membrane|proteinaceous extracellular matrix		g.chr11:121060483G>C	AF055136	CCDS8434.1	11q22-q24	2008-02-05			ENSG00000109927	ENSG00000109927			11720	protein-coding gene	gene with protein product		602574		DFNA12, DFNA8, DFNB21		9503015, 9590290	Standard	NM_005422		Approved		uc010rzo.2	O75443	OTTHUMG00000149908	ENST00000392793.1:c.6261G>C	11.37:g.121060483G>C	ENSP00000376543:p.Trp2087Cys						p.W2087C	NM_005422	NP_005413	O75443	TECTA_HUMAN		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)	22	6261	+	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)	2087						Missense_Mutation	SNP	ENST00000392793.1	37	c.6261G>C	CCDS8434.1	.	.	.	.	.	.	.	.	.	.	G	22.7	4.326619	0.81690	.	.	ENSG00000109927	ENST00000392793;ENST00000264037	D;D	0.95518	-3.73;-3.73	5.93	5.93	0.95920	Epidermal growth factor-like (1);	0.000000	0.85682	D	0.000000	D	0.96565	0.8879	L	0.38175	1.15	0.80722	D	1	D	0.76494	0.999	D	0.81914	0.995	D	0.96961	0.9701	10	0.87932	D	0	.	19.9541	0.97213	0.0:0.0:1.0:0.0	.	2087	O75443	TECTA_HUMAN	C	2087	ENSP00000376543:W2087C;ENSP00000264037:W2087C	ENSP00000264037:W2087C	W	+	3	0	TECTA	120565693	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	9.434000	0.97515	2.815000	0.96918	0.561000	0.74099	TGG		PASS	0.522	TECTA-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313850.1	NM_005422		45	34	45	34	---	---	---	---
GNB3	2784	broad.mit.edu	37	12	6952794	6952794	+	Splice_Site	SNP	A	A	T			TCGA-66-2756-01A-01D-1522-08	TCGA-66-2756-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	472c95e6-eccb-4988-be16-fdace73b2ed8	ff4f5936-f847-42ad-aedf-6a6a7fff6002	g.chr12:6952794A>T	ENST00000229264.3	+	8	835		c.e8-1		CDCA3_ENST00000604599.1_5'Flank|GNB3_ENST00000435982.2_Splice_Site	NM_002075.2	NP_002066.1	P16520	GBB3_HUMAN	guanine nucleotide binding protein (G protein), beta polypeptide 3						cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|G-protein coupled receptor signaling pathway (GO:0007186)|GTP catabolic process (GO:0006184)|regulation of blood pressure (GO:0008217)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	cell body (GO:0044297)|extracellular vesicular exosome (GO:0070062)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	GTPase activity (GO:0003924)|GTPase binding (GO:0051020)|signal transducer activity (GO:0004871)	p.?(1)		cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(7)|prostate(1)|stomach(1)	20						AACCGCCTCCAGGTTATCTCT	0.612																																						uc001qrd.2																			1	Unknown(1)		lung(1)		0						c.e8-2		guanine nucleotide-binding protein, beta-3							73.0	73.0	73.0					12																	6952794		2203	4300	6503	SO:0001630	splice_region_variant	2784				cellular response to glucagon stimulus|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|regulation of blood pressure|synaptic transmission	plasma membrane	GTPase activity|GTPase binding|signal transducer activity	g.chr12:6952794A>T		CCDS8564.1, CCDS73427.1	12p13	2013-01-10			ENSG00000111664	ENSG00000111664		"""WD repeat domain containing"""	4400	protein-coding gene	gene with protein product		139130				11770079, 16600389	Standard	XM_005253680		Approved		uc001qrd.3	P16520	OTTHUMG00000168517	ENST00000229264.3:c.431-1A>T	12.37:g.6952794A>T						GNB3_uc001qrc.2_Splice_Site_p.G100_splice|GNB3_uc009zfe.2_Splice_Site_p.G144_splice	p.G144_splice	NM_002075	NP_002066	P16520	GBB3_HUMAN			8	836	+								Q96B71|Q9BQC0	Splice_Site	SNP	ENST00000229264.3	37	c.431_splice	CCDS8564.1	.	.	.	.	.	.	.	.	.	.	A	11.95	1.791000	0.31685	.	.	ENSG00000111664	ENST00000229264;ENST00000541257;ENST00000541978;ENST00000435982;ENST00000537035	.	.	.	5.04	5.04	0.67666	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.9483	0.71050	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	GNB3	6823055	1.000000	0.71417	0.925000	0.36789	0.084000	0.17831	7.408000	0.80041	2.117000	0.64856	0.459000	0.35465	.		PASS	0.612	GNB3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400006.1	NM_002075	Intron	56	21	56	21	---	---	---	---
NANOG	79923	broad.mit.edu	37	12	7942241	7942241	+	Missense_Mutation	SNP	T	T	A			TCGA-66-2756-01A-01D-1522-08	TCGA-66-2756-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	472c95e6-eccb-4988-be16-fdace73b2ed8	ff4f5936-f847-42ad-aedf-6a6a7fff6002	g.chr12:7942241T>A	ENST00000229307.4	+	1	250	c.31T>A	c.(31-33)Ttg>Atg	p.L11M	NANOG_ENST00000526286.1_Missense_Mutation_p.L11M	NM_024865.2	NP_079141.2	Q9H9S0	NANOG_HUMAN	Nanog homeobox	11					cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|embryo development (GO:0009790)|embryonic pattern specification (GO:0009880)|endodermal cell fate specification (GO:0001714)|gonad development (GO:0008406)|mesodermal cell fate commitment (GO:0001710)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of cell fate commitment (GO:0010454)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cell proliferation (GO:0008284)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell differentiation (GO:0045595)|regulation of gene expression (GO:0010468)|regulation of transcription, DNA-templated (GO:0006355)|response to retinoic acid (GO:0032526)|somatic stem cell maintenance (GO:0035019)|stem cell division (GO:0017145)|transcription, DNA-templated (GO:0006351)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|enhancer sequence-specific DNA binding (GO:0001158)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)	p.L11M(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	14				Kidney(36;0.0872)		TCCCCAAAGCTTGCCTTGCTT	0.428																																						uc009zfy.1																			1	Substitution - Missense(1)		lung(1)		0						c.(31-33)TTG>ATG		Nanog homeobox							140.0	129.0	133.0					12																	7942241		2203	4300	6503	SO:0001583	missense	79923				cell proliferation|embryo development|somatic stem cell maintenance	nucleolus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr12:7942241T>A	AB093576	CCDS31736.1, CCDS73436.1	12p13.31	2011-06-20			ENSG00000111704	ENSG00000111704		"""Homeoboxes / ANTP class : NKL subclass"""	20857	protein-coding gene	gene with protein product		607937				12787505, 12787504	Standard	XM_005253484		Approved	FLJ12581, FLJ40451	uc009zfy.1	Q9H9S0		ENST00000229307.4:c.31T>A	12.37:g.7942241T>A	ENSP00000229307:p.Leu11Met						p.L11M	NM_024865	NP_079141	Q9H9S0	NANOG_HUMAN		Kidney(36;0.0872)	1	247	+			11					D3DUU4|Q2TTG0|Q6JZS5	Missense_Mutation	SNP	ENST00000229307.4	37	c.31T>A	CCDS31736.1	.	.	.	.	.	.	.	.	.	.	.	12.17	1.856230	0.32791	.	.	ENSG00000111704	ENST00000229307;ENST00000526286	D;D	0.92446	-3.04;-2.98	3.24	0.0104	0.14083	.	0.424017	0.19417	N	0.114790	D	0.92133	0.7506	L	0.59436	1.845	0.09310	N	1	D	0.65815	0.995	D	0.63033	0.91	D	0.83643	0.0151	10	0.33940	T	0.23	-0.3924	5.9422	0.19199	0.0:0.6231:0.0:0.3769	.	11	Q9H9S0	NANOG_HUMAN	M	11	ENSP00000229307:L11M;ENSP00000435288:L11M	ENSP00000229307:L11M	L	+	1	2	NANOG	7833508	0.000000	0.05858	0.000000	0.03702	0.051000	0.14879	-0.226000	0.09139	0.031000	0.15407	-0.624000	0.04008	TTG		PASS	0.428	NANOG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387480.2	NM_024865		97	103	97	103	---	---	---	---
A2ML1	144568	broad.mit.edu	37	12	9001331	9001331	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2756-01A-01D-1522-08	TCGA-66-2756-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	472c95e6-eccb-4988-be16-fdace73b2ed8	ff4f5936-f847-42ad-aedf-6a6a7fff6002	g.chr12:9001331C>A	ENST00000299698.7	+	16	2029	c.1849C>A	c.(1849-1851)Cca>Aca	p.P617T	A2ML1_ENST00000540049.1_3'UTR|A2ML1_ENST00000539547.1_Missense_Mutation_p.P126T	NM_001282424.1|NM_144670.4	NP_001269353.1|NP_653271			alpha-2-macroglobulin-like 1									p.P617T(1)		NS(2)|breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(2)|lung(36)|ovary(2)|skin(4)|stomach(1)|urinary_tract(1)	80						TGGGATGTTTCCATTCTGGTA	0.478																																						uc001quz.3																			1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(1)	3						c.(1849-1851)CCA>ACA		alpha-2-macroglobulin-like 1 precursor							141.0	132.0	135.0					12																	9001331		1935	4149	6084	SO:0001583	missense	144568					extracellular space	endopeptidase inhibitor activity	g.chr12:9001331C>A	AK057908	CCDS8596.2, CCDS73439.1	12p13	2010-12-14	2005-09-01	2005-09-01	ENSG00000166535	ENSG00000166535			23336	protein-coding gene	gene with protein product		610627	"""C3 and PZP-like, alpha-2-macroglobulin domain containing 9"""	CPAMD9		16298998	Standard	NM_144670		Approved	FLJ25179	uc001quz.5	A8K2U0	OTTHUMG00000128499	ENST00000299698.7:c.1849C>A	12.37:g.9001331C>A	ENSP00000299698:p.Pro617Thr					A2ML1_uc001qva.1_Missense_Mutation_p.P197T|A2ML1_uc010sgm.1_Missense_Mutation_p.P117T	p.P617T	NM_144670	NP_653271	A8K2U0	A2ML1_HUMAN			16	1947	+			461						Missense_Mutation	SNP	ENST00000299698.7	37	c.1849C>A	CCDS8596.2	.	.	.	.	.	.	.	.	.	.	C	10.35	1.326399	0.24080	.	.	ENSG00000166535	ENST00000299698;ENST00000539161;ENST00000541459;ENST00000539547;ENST00000545692	T;T;T;T	0.38887	1.37;1.5;2.05;1.11	2.82	1.92	0.25849	.	.	.	.	.	T	0.36276	0.0961	L	0.57536	1.79	0.23371	N	0.997813	B	0.06786	0.001	B	0.09377	0.004	T	0.36792	-0.9733	9	0.72032	D	0.01	.	5.7385	0.18079	0.0:0.8487:0.0:0.1513	.	617	A8K2U0	A2ML1_HUMAN	T	617;617;167;126;129	ENSP00000299698:P617T;ENSP00000443174:P167T;ENSP00000438292:P126T;ENSP00000440057:P129T	ENSP00000299698:P617T	P	+	1	0	A2ML1	8892598	0.076000	0.21285	0.999000	0.59377	0.840000	0.47671	0.076000	0.14712	0.767000	0.33267	0.456000	0.33151	CCA		PASS	0.478	A2ML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250304.3	NM_144670		55	221	55	221	---	---	---	---
A2M	2	broad.mit.edu	37	12	9227156	9227156	+	Splice_Site	SNP	C	C	A			TCGA-66-2756-01A-01D-1522-08	TCGA-66-2756-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	472c95e6-eccb-4988-be16-fdace73b2ed8	ff4f5936-f847-42ad-aedf-6a6a7fff6002	g.chr12:9227156C>A	ENST00000318602.7	-	29	4063	c.3756G>T	c.(3754-3756)caG>caT	p.Q1252H		NM_000014.4	NP_000005	P01023	A2MG_HUMAN	alpha-2-macroglobulin	1252					blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|negative regulation of complement activation, lectin pathway (GO:0001869)|negative regulation of endopeptidase activity (GO:0010951)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|stem cell differentiation (GO:0048863)	blood microparticle (GO:0072562)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|platelet alpha granule lumen (GO:0031093)	calcium-dependent protein binding (GO:0048306)|enzyme binding (GO:0019899)|growth factor binding (GO:0019838)|interleukin-1 binding (GO:0019966)|interleukin-8 binding (GO:0019959)|protease binding (GO:0002020)|receptor binding (GO:0005102)|serine-type endopeptidase inhibitor activity (GO:0004867)|tumor necrosis factor binding (GO:0043120)	p.Q1252H(1)		breast(1)|central_nervous_system(6)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(17)|lung(30)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	77					Bacitracin(DB00626)|Becaplermin(DB00102)|Ocriplasmin(DB08888)	AATCACCAACCTGGGTGGAGG	0.468																																						uc001qvk.1																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(4)|skin(1)	5						c.(3754-3756)CAG>CAT		alpha-2-macroglobulin precursor	Bacitracin(DB00626)|Becaplermin(DB00102)						39.0	40.0	40.0					12																	9227156		2203	4299	6502	SO:0001630	splice_region_variant	2				blood coagulation, intrinsic pathway|negative regulation of complement activation, lectin pathway|platelet activation|platelet degranulation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|extracellular space|platelet alpha granule lumen	enzyme binding|GTPase activator activity|interleukin-1 binding|interleukin-8 binding|serine-type endopeptidase inhibitor activity|tumor necrosis factor binding	g.chr12:9227156C>A	BX647329, X68728, M11313	CCDS44827.1	12p13.31	2010-02-24			ENSG00000175899	ENSG00000175899			7	protein-coding gene	gene with protein product		103950					Standard	XM_006719056		Approved	FWP007, S863-7, CPAMD5	uc001qvk.1	P01023	OTTHUMG00000150267	ENST00000318602.7:c.3756+1G>T	12.37:g.9227156C>A						A2M_uc001qvj.1_Missense_Mutation_p.Q294H|A2M_uc009zgk.1_Missense_Mutation_p.Q1102H	p.Q1252H	NM_000014	NP_000005	P01023	A2MG_HUMAN			29	3869	-			1252					Q13677|Q59F47|Q5QTS0|Q68DN2|Q6PIY3|Q6PN97	Missense_Mutation	SNP	ENST00000318602.7	37	c.3756G>T	CCDS44827.1	.	.	.	.	.	.	.	.	.	.	C	20.3	3.966139	0.74131	.	.	ENSG00000175899	ENST00000318602;ENST00000540099	T	0.55052	0.54	4.79	4.79	0.61399	Terpenoid cylases/protein prenyltransferase alpha-alpha toroid (1);A-macroglobulin complement component (1);	0.071971	0.53938	N	0.000045	D	0.83603	0.5290	H	0.98542	4.26	0.58432	D	0.999996	D	0.89917	1.0	D	0.97110	1.0	D	0.90427	0.4421	9	.	.	.	.	17.6259	0.88093	0.0:1.0:0.0:0.0	.	1252	P01023	A2MG_HUMAN	H	1252;1267	ENSP00000323929:Q1252H	.	Q	-	3	2	A2M	9118423	1.000000	0.71417	1.000000	0.80357	0.583000	0.36354	7.640000	0.83355	2.492000	0.84095	0.313000	0.20887	CAG		PASS	0.468	A2M-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317233.2	NM_000014	Missense_Mutation	12	11	12	11	---	---	---	---
GRIN2B	2904	broad.mit.edu	37	12	13716971	13716971	+	Silent	SNP	G	G	A			TCGA-66-2756-01A-01D-1522-08	TCGA-66-2756-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	472c95e6-eccb-4988-be16-fdace73b2ed8	ff4f5936-f847-42ad-aedf-6a6a7fff6002	g.chr12:13716971G>A	ENST00000609686.1	-	13	3410	c.3201C>T	c.(3199-3201)acC>acT	p.T1067T		NM_000834.3	NP_000825.2	Q13224	NMDE2_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2B	1067					behavioral fear response (GO:0001662)|behavioral response to pain (GO:0048266)|detection of mechanical stimulus involved in sensory perception of pain (GO:0050966)|glutamate receptor signaling pathway (GO:0007215)|in utero embryonic development (GO:0001701)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|learning (GO:0007612)|learning or memory (GO:0007611)|memory (GO:0007613)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of synaptic plasticity (GO:0048167)|response to ethanol (GO:0045471)|sensory organ development (GO:0007423)|startle response (GO:0001964)|suckling behavior (GO:0001967)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuron projection (GO:0043005)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|synaptic vesicle (GO:0008021)	calcium channel activity (GO:0005262)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glycine binding (GO:0016594)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)|zinc ion binding (GO:0008270)	p.T1067T(1)		NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1)	143					Acamprosate(DB00659)|Acetylcysteine(DB06151)|Atomoxetine(DB00289)|Felbamate(DB00949)|Gabapentin(DB00996)|Haloperidol(DB00502)|Ketobemidone(DB06738)|Memantine(DB01043)|Milnacipran(DB04896)|Pentobarbital(DB00312)|Pethidine(DB00454)|Phenobarbital(DB01174)|Secobarbital(DB00418)	CATAGGTGACGGTGTGGGTTG	0.577																																						uc001rbt.2																			1	Substitution - coding silent(1)		lung(1)	central_nervous_system(4)|ovary(3)|skin(3)|lung(2)	12						c.(3199-3201)ACC>ACT		N-methyl-D-aspartate receptor subunit 2B	Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)						61.0	53.0	56.0					12																	13716971		2203	4300	6503	SO:0001819	synonymous_variant	2904				response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	glycine binding|N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding	g.chr12:13716971G>A		CCDS8662.1	12p13.1	2014-07-16			ENSG00000273079			"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4586	protein-coding gene	gene with protein product		138252		NMDAR2B		1350383	Standard	NM_000834		Approved	GluN2B	uc001rbt.2	Q13224	OTTHUMG00000137373	ENST00000609686.1:c.3201C>T	12.37:g.13716971G>A							p.T1067T	NM_000834	NP_000825	Q13224	NMDE2_HUMAN			13	3380	-			1067			Cytoplasmic (Potential).		Q12919|Q13220|Q13225|Q14CU4|Q9UM56	Silent	SNP	ENST00000609686.1	37	c.3201C>T	CCDS8662.1																																																																																				PASS	0.577	GRIN2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268014.2			41	24	41	24	---	---	---	---
PTPRO	5800	broad.mit.edu	37	12	15722408	15722408	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2756-01A-01D-1522-08	TCGA-66-2756-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	472c95e6-eccb-4988-be16-fdace73b2ed8	ff4f5936-f847-42ad-aedf-6a6a7fff6002	g.chr12:15722408C>A	ENST00000281171.4	+	19	3135	c.2805C>A	c.(2803-2805)gaC>gaA	p.D935E	PTPRO_ENST00000445537.2_Missense_Mutation_p.D124E|PTPRO_ENST00000544244.1_Missense_Mutation_p.D96E|PTPRO_ENST00000542557.1_Missense_Mutation_p.D96E|PTPRO_ENST00000348962.2_Missense_Mutation_p.D907E|PTPRO_ENST00000442921.2_Missense_Mutation_p.D124E	NM_030667.2	NP_109592.1	Q16827	PTPRO_HUMAN	protein tyrosine phosphatase, receptor type, O	935					axon guidance (GO:0007411)|cell morphogenesis (GO:0000902)|glomerular visceral epithelial cell differentiation (GO:0072112)|glomerulus development (GO:0032835)|lamellipodium assembly (GO:0030032)|monocyte chemotaxis (GO:0002548)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of glomerular filtration (GO:0003105)|negative regulation of neuron projection development (GO:0010977)|negative regulation of retinal ganglion cell axon guidance (GO:0090260)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|regulation of glomerular filtration (GO:0003093)|slit diaphragm assembly (GO:0036060)	apical plasma membrane (GO:0016324)|axon (GO:0030424)|dendritic spine (GO:0043197)|extracellular vesicular exosome (GO:0070062)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|lateral plasma membrane (GO:0016328)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	phosphatase activity (GO:0016791)|protein homodimerization activity (GO:0042803)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)|Wnt-protein binding (GO:0017147)	p.D935E(1)		NS(2)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(11)|lung(30)|ovary(2)|prostate(1)|skin(17)|upper_aerodigestive_tract(1)	74		Hepatocellular(102;0.244)				AAGACTCTGACTATAAATTTT	0.393																																						uc001rcv.1																			1	Substitution - Missense(1)		lung(1)	skin(5)|ovary(2)|upper_aerodigestive_tract(1)|lung(1)	9						c.(2803-2805)GAC>GAA		receptor-type protein tyrosine phosphatase O							184.0	189.0	187.0					12																	15722408		2203	4300	6503	SO:0001583	missense	5800					integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr12:15722408C>A	U20489	CCDS8674.1, CCDS8675.1, CCDS44837.1, CCDS53754.1	12p13-p12	2013-02-11			ENSG00000151490	ENSG00000151490		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9678	protein-coding gene	gene with protein product	"""osteoclastic transmembrane protein-tyrosine phosphatase"""	600579				7519601, 7665166, 21722858	Standard	NM_030667		Approved	PTPU2, GLEPP1, PTP-U2, PTP-oc, NPHS6	uc001rcv.2	Q16827	OTTHUMG00000168786	ENST00000281171.4:c.2805C>A	12.37:g.15722408C>A	ENSP00000281171:p.Asp935Glu					PTPRO_uc001rcw.1_Missense_Mutation_p.D907E|PTPRO_uc001rcx.1_Missense_Mutation_p.D124E|PTPRO_uc001rcy.1_Missense_Mutation_p.D124E|PTPRO_uc001rcz.1_Missense_Mutation_p.D96E|PTPRO_uc001rda.1_Missense_Mutation_p.D96E	p.D935E	NM_030667	NP_109592	Q16827	PTPRO_HUMAN			19	2979	+		Hepatocellular(102;0.244)	935			Cytoplasmic (Potential).		A0AV39|Q13101|Q8IYG3|Q9UBF0|Q9UBT5	Missense_Mutation	SNP	ENST00000281171.4	37	c.2805C>A	CCDS8675.1	.	.	.	.	.	.	.	.	.	.	C	14.40	2.522709	0.44866	.	.	ENSG00000151490	ENST00000281171;ENST00000348962;ENST00000442921;ENST00000542557;ENST00000445537;ENST00000544244	T;T;T;T;T;T	0.10763	2.84;2.84;2.84;2.84;2.84;2.84	4.75	2.77	0.32553	.	0.000000	0.48286	D	0.000186	T	0.06234	0.0161	N	0.24115	0.695	0.49582	D	0.999805	B;B;B	0.31968	0.017;0.349;0.283	B;B;B	0.25140	0.008;0.058;0.036	T	0.30268	-0.9984	10	0.72032	D	0.01	.	6.5185	0.22262	0.0:0.6445:0.0:0.3555	.	96;907;935	Q9UBT5;Q16827-2;Q16827	.;.;PTPRO_HUMAN	E	935;907;124;96;124;96	ENSP00000281171:D935E;ENSP00000343434:D907E;ENSP00000404188:D124E;ENSP00000437571:D96E;ENSP00000393449:D124E;ENSP00000439234:D96E	ENSP00000281171:D935E	D	+	3	2	PTPRO	15613675	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.410000	0.44592	1.239000	0.43787	0.563000	0.77884	GAC		PASS	0.393	PTPRO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401079.1			31	144	31	144	---	---	---	---
SLCO1B3	28234	broad.mit.edu	37	12	21069122	21069122	+	Missense_Mutation	SNP	G	G	A			TCGA-66-2756-01A-01D-1522-08	TCGA-66-2756-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	472c95e6-eccb-4988-be16-fdace73b2ed8	ff4f5936-f847-42ad-aedf-6a6a7fff6002	g.chr12:21069122G>A	ENST00000381545.3	+	16	2269	c.2050G>A	c.(2050-2052)Gct>Act	p.A684T	SLCO1B3_ENST00000553473.1_Intron|SLCO1B3_ENST00000261196.2_Missense_Mutation_p.A684T|SLCO1B7_ENST00000554957.1_Intron|LST3_ENST00000381541.3_Intron|LST3_ENST00000540229.1_Intron	NM_019844.3	NP_062818.1	Q9NPD5	SO1B3_HUMAN	solute carrier organic anion transporter family, member 1B3	684					bile acid and bile salt transport (GO:0015721)|bile acid metabolic process (GO:0008206)|organic anion transport (GO:0015711)|small molecule metabolic process (GO:0044281)|sodium-independent organic anion transport (GO:0043252)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	organic anion transmembrane transporter activity (GO:0008514)	p.A684T(1)		breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(23)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(2)	63	Esophageal squamous(101;0.149)				Atorvastatin(DB01076)|Cabazitaxel(DB06772)|Caspofungin(DB00520)|Conjugated Estrogens(DB00286)|Dabrafenib(DB08912)|Digoxin(DB00390)|Docetaxel(DB01248)|Estradiol(DB00783)|Fexofenadine(DB00950)|Fluvastatin(DB01095)|Gadoxetate(DB08884)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Liotrix(DB01583)|Methotrexate(DB00563)|Mycophenolate mofetil(DB00688)|Olmesartan(DB00275)|Ouabain(DB01092)|Paclitaxel(DB01229)|Pioglitazone(DB01132)|Pitavastatin(DB08860)|Pravastatin(DB00175)|Rifampicin(DB01045)|Rilpivirine(DB08864)|Rosuvastatin(DB01098)|Valsartan(DB00177)	TGTACCTTCTGCTGGAACAGA	0.343																																						uc001rek.2																			1	Substitution - Missense(1)		lung(1)	large_intestine(2)|ovary(1)|skin(1)	4						c.(2050-2052)GCT>ACT		solute carrier organic anion transporter family,							94.0	92.0	93.0					12																	21069122		2203	4300	6503	SO:0001583	missense	28234				bile acid metabolic process|sodium-independent organic anion transport	basolateral plasma membrane|cytoplasm|integral to plasma membrane	bile acid transmembrane transporter activity|organic anion transmembrane transporter activity	g.chr12:21069122G>A		CCDS8684.1	12p12	2013-05-22	2003-11-25	2003-11-26		ENSG00000111700		"""Solute carriers"""	10961	protein-coding gene	gene with protein product		605495	"""solute carrier family 21 (organic anion transporter), member 8"""	SLC21A8			Standard	NM_019844		Approved	OATP8, OATP1B3	uc001rel.4	Q9NPD5	OTTHUMG00000169011	ENST00000381545.3:c.2050G>A	12.37:g.21069122G>A	ENSP00000370956:p.Ala684Thr					SLCO1B3_uc001rel.2_Missense_Mutation_p.A684T|SLCO1B3_uc010sil.1_Intron|LST-3TM12_uc010sim.1_Intron	p.A684T	NM_019844	NP_062818	Q9NPD5	SO1B3_HUMAN			15	2176	+	Esophageal squamous(101;0.149)		684			Cytoplasmic (Potential).		E7EMT8|Q5JAR4	Missense_Mutation	SNP	ENST00000381545.3	37	c.2050G>A	CCDS8684.1	.	.	.	.	.	.	.	.	.	.	.	10.96	1.499898	0.26861	.	.	ENSG00000111700	ENST00000261196;ENST00000381545	T;T	0.37915	1.17;1.17	3.48	1.47	0.22746	.	2.429900	0.01982	N	0.044910	T	0.30885	0.0779	L	0.54323	1.7	0.09310	N	0.999998	B	0.24618	0.107	B	0.25140	0.058	T	0.14364	-1.0475	10	0.07175	T	0.84	.	4.2267	0.10584	0.1398:0.2439:0.6163:0.0	.	684	Q9NPD5	SO1B3_HUMAN	T	684	ENSP00000261196:A684T;ENSP00000370956:A684T	ENSP00000261196:A684T	A	+	1	0	SLCO1B3	20960389	0.000000	0.05858	0.042000	0.18584	0.052000	0.14988	-1.011000	0.03652	0.525000	0.28522	0.453000	0.30009	GCT		PASS	0.343	SLCO1B3-001	KNOWN	upstream_ATG|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000401936.1	NM_019844		17	79	17	79	---	---	---	---
ARID2	196528	broad.mit.edu	37	12	46245498	46245498	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2756-01A-01D-1522-08	TCGA-66-2756-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	472c95e6-eccb-4988-be16-fdace73b2ed8	ff4f5936-f847-42ad-aedf-6a6a7fff6002	g.chr12:46245498C>G	ENST00000334344.6	+	15	3764	c.3592C>G	c.(3592-3594)Cca>Gca	p.P1198A	ARID2_ENST00000444670.1_Missense_Mutation_p.P808A|ARID2_ENST00000422737.1_Missense_Mutation_p.P1049A|ARID2_ENST00000457135.1_5'Flank|ARID2_ENST00000479608.1_3'UTR	NM_152641.2	NP_689854.2	Q68CP9	ARID2_HUMAN	AT rich interactive domain 2 (ARID, RFX-like)	1198					chromatin modification (GO:0016568)|nucleosome disassembly (GO:0006337)|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.P1198A(1)		NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|liver(20)|lung(34)|ovary(7)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	116	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.106)|all_lung(34;0.22)	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.0153)		GCTCATTGCTCCAGCAGGAAT	0.498			"""N, S, F"""		hepatocellular carcinoma																																	uc001ros.1				Rec	yes		12	12q12	196528		AT rich interactive domain 2			E					1	Substitution - Missense(1)		lung(1)	ovary(6)|skin(3)|upper_aerodigestive_tract(1)	10						c.(3592-3594)CCA>GCA		AT rich interactive domain 2 (ARID, RFX-like)							71.0	68.0	69.0					12																	46245498		2203	4300	6503	SO:0001583	missense	196528				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding	g.chr12:46245498C>G		CCDS31783.1	12q13.11	2013-02-07			ENSG00000189079	ENSG00000189079		"""-"""	18037	protein-coding gene	gene with protein product		609539					Standard	NM_152641		Approved	KIAA1557, DKFZp686G052, FLJ30619, BAF200	uc001ros.1	Q68CP9	OTTHUMG00000150487	ENST00000334344.6:c.3592C>G	12.37:g.46245498C>G	ENSP00000335044:p.Pro1198Ala					ARID2_uc001ror.2_Missense_Mutation_p.P1198A|ARID2_uc009zkg.1_Missense_Mutation_p.P654A|ARID2_uc009zkh.1_Missense_Mutation_p.P825A|ARID2_uc001rou.1_Missense_Mutation_p.P532A	p.P1198A	NM_152641	NP_689854	Q68CP9	ARID2_HUMAN	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.0153)	15	3592	+	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.106)|all_lung(34;0.22)	1198					Q15KG9|Q5EB51|Q645I3|Q6ZRY5|Q7Z3I5|Q86T28|Q96SJ6|Q9HCL5	Missense_Mutation	SNP	ENST00000334344.6	37	c.3592C>G	CCDS31783.1	.	.	.	.	.	.	.	.	.	.	C	8.381	0.837634	0.16891	.	.	ENSG00000189079	ENST00000334344;ENST00000549153;ENST00000338636;ENST00000422737;ENST00000444670	T	0.35421	1.31	6.17	4.35	0.52113	.	0.225505	0.45867	D	0.000337	T	0.44095	0.1277	L	0.29908	0.895	0.80722	D	1	B;D;B	0.63880	0.144;0.993;0.026	B;D;B	0.63488	0.066;0.915;0.018	T	0.34030	-0.9845	10	0.54805	T	0.06	-4.915	11.9676	0.53044	0.1221:0.8152:0.0:0.0627	.	1198;808;1198	Q68CP9-3;F8W108;Q68CP9	.;.;ARID2_HUMAN	A	1198;315;315;1049;808	ENSP00000335044:P1198A	ENSP00000335044:P1198A	P	+	1	0	ARID2	44531765	1.000000	0.71417	1.000000	0.80357	0.046000	0.14306	4.220000	0.58567	0.931000	0.37242	0.655000	0.94253	CCA		PASS	0.498	ARID2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318380.2	XM_350875		55	45	55	45	---	---	---	---
COL2A1	1280	broad.mit.edu	37	12	48387259	48387259	+	Silent	SNP	G	G	A			TCGA-66-2756-01A-01D-1522-08	TCGA-66-2756-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	472c95e6-eccb-4988-be16-fdace73b2ed8	ff4f5936-f847-42ad-aedf-6a6a7fff6002	g.chr12:48387259G>A	ENST00000380518.3	-	15	1115	c.951C>T	c.(949-951)aaC>aaT	p.N317N	COL2A1_ENST00000337299.6_Silent_p.N248N	NM_001844.4|NM_033150.2	NP_001835.3|NP_149162.2	P02458	CO2A1_HUMAN	collagen, type II, alpha 1	317	Triple-helical region.				axon guidance (GO:0007411)|cartilage condensation (GO:0001502)|cartilage development (GO:0051216)|cartilage development involved in endochondral bone morphogenesis (GO:0060351)|cellular response to BMP stimulus (GO:0071773)|central nervous system development (GO:0007417)|chondrocyte differentiation (GO:0002062)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|embryonic skeletal joint morphogenesis (GO:0060272)|endochondral ossification (GO:0001958)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|heart morphogenesis (GO:0003007)|inner ear morphogenesis (GO:0042472)|limb bud formation (GO:0060174)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|notochord development (GO:0030903)|otic vesicle development (GO:0071599)|palate development (GO:0060021)|proteoglycan metabolic process (GO:0006029)|regulation of gene expression (GO:0010468)|sensory perception of sound (GO:0007605)|skeletal system development (GO:0001501)|tissue homeostasis (GO:0001894)|visual perception (GO:0007601)	basement membrane (GO:0005604)|collagen type II trimer (GO:0005585)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	extracellular matrix structural constituent conferring tensile strength (GO:0030020)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)	p.N317N(1)|p.N248N(1)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(25)|ovary(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(3)	64		Acute lymphoblastic leukemia(13;0.108)|all_hematologic(14;0.214)			Collagenase(DB00048)	CCGGAGATCCGTTCTCACCCG	0.532																																						uc001rqu.2																			2	Substitution - coding silent(2)		lung(2)	ovary(1)|skin(1)	2						c.(949-951)AAC>AAT		collagen, type II, alpha 1 isoform 1 precursor	Collagenase(DB00048)						91.0	84.0	86.0					12																	48387259		2203	4300	6503	SO:0001819	synonymous_variant	1280				axon guidance|collagen fibril organization|embryonic skeletal joint morphogenesis|sensory perception of sound|visual perception	collagen type II	identical protein binding|platelet-derived growth factor binding	g.chr12:48387259G>A	X16468	CCDS8759.1, CCDS41778.1	12q12-q13.2	2013-11-14	2008-02-04		ENSG00000139219	ENSG00000139219		"""Collagens"""	2200	protein-coding gene	gene with protein product		120140	"""collagen, type II, alpha 1 (primary osteoarthritis, spondyloepiphyseal dysplasia, congenital)"", ""arthroophthalmopathy, progressive (Stickler syndrome)"""	SEDC, AOM		1677770	Standard	NM_033150		Approved	STL1	uc001rqu.3	P02458	OTTHUMG00000149896	ENST00000380518.3:c.951C>T	12.37:g.48387259G>A						COL2A1_uc001rqv.2_Silent_p.N248N	p.N317N	NM_001844	NP_001835	P02458	CO2A1_HUMAN			15	1132	-		Acute lymphoblastic leukemia(13;0.108)|all_hematologic(14;0.214)	317			Triple-helical region.		A6NGA0|Q12985|Q14009|Q14044|Q14045|Q14046|Q14047|Q14056|Q14058|Q16672|Q1JQ82|Q2V4X7|Q6LBY1|Q6LBY2|Q6LBY3|Q96IT5|Q99227|Q9UE38|Q9UE39|Q9UE40|Q9UE41|Q9UE42|Q9UE43	Silent	SNP	ENST00000380518.3	37	c.951C>T	CCDS41778.1																																																																																				PASS	0.532	COL2A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313810.2	NM_001844		16	74	16	74	---	---	---	---
FMNL3	91010	broad.mit.edu	37	12	50050949	50050949	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2756-01A-01D-1522-08	TCGA-66-2756-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	472c95e6-eccb-4988-be16-fdace73b2ed8	ff4f5936-f847-42ad-aedf-6a6a7fff6002	g.chr12:50050949C>A	ENST00000293590.5	-	7	863	c.630G>T	c.(628-630)agG>agT	p.R210S	FMNL3_ENST00000352151.5_Missense_Mutation_p.R159S|FMNL3_ENST00000550488.1_Missense_Mutation_p.R210S|FMNL3_ENST00000335154.5_Missense_Mutation_p.R210S			Q8IVF7	FMNL3_HUMAN	formin-like 3	210	GBD/FH3. {ECO:0000255|PROSITE- ProRule:PRU00579}.				actin cytoskeleton organization (GO:0030036)|cell migration (GO:0016477)|cytoskeleton organization (GO:0007010)|regulation of cell shape (GO:0008360)	cytoplasm (GO:0005737)	GTPase activating protein binding (GO:0032794)	p.R210S(2)		breast(4)|endometrium(7)|kidney(2)|large_intestine(6)|lung(11)|ovary(2)|pancreas(2)|prostate(2)|skin(2)|stomach(1)	39						TCTTCAGGGCCCTGCGCCCAG	0.582																																						uc001ruv.1																			2	Substitution - Missense(2)		lung(2)	breast(2)|pancreas(2)	4						c.(628-630)AGG>AGT		formin-like 3 isoform 1							88.0	89.0	88.0					12																	50050949		2022	4192	6214	SO:0001583	missense	91010				actin cytoskeleton organization		actin binding|Rho GTPase binding	g.chr12:50050949C>A	AK128195	CCDS41780.1, CCDS44874.1	12q13.12	2006-04-10							23698	protein-coding gene	gene with protein product						12684686	Standard	NM_198900		Approved	DKFZp762B245, MGC45819, WBP3	uc001ruv.1	Q8IVF7	OTTHUMG00000169651	ENST00000293590.5:c.630G>T	12.37:g.50050949C>A	ENSP00000293590:p.Arg210Ser					FMNL3_uc001ruw.1_Missense_Mutation_p.R159S|FMNL3_uc001ruu.1_Missense_Mutation_p.R60S	p.R210S	NM_175736	NP_783863	Q8IVF7	FMNL3_HUMAN			7	864	-			210			GBD/FH3.		B0JZA7|Q6ZRJ1	Missense_Mutation	SNP	ENST00000293590.5	37	c.630G>T		.	.	.	.	.	.	.	.	.	.	C	15.01	2.705117	0.48412	.	.	ENSG00000161791	ENST00000335154;ENST00000550488;ENST00000352151;ENST00000293590	T;T;T;T	0.80909	-1.31;-1.31;-1.43;-1.31	5.26	3.45	0.39498	.	0.162284	0.49916	D	0.000135	T	0.71745	0.3376	L	0.53249	1.67	0.41352	D	0.987371	P;B	0.37330	0.59;0.01	B;B	0.33690	0.168;0.022	T	0.65890	-0.6058	10	0.26408	T	0.33	.	9.2814	0.37731	0.0:0.7628:0.0:0.2372	.	159;210	Q8IVF7-2;Q8IVF7-3	.;.	S	210;210;159;210	ENSP00000335655:R210S;ENSP00000447479:R210S;ENSP00000344311:R159S;ENSP00000293590:R210S	ENSP00000293590:R210S	R	-	3	2	FMNL3	48337216	0.999000	0.42202	1.000000	0.80357	0.971000	0.66376	1.129000	0.31381	0.744000	0.32741	-0.258000	0.10820	AGG		PASS	0.582	FMNL3-201	KNOWN	basic	protein_coding	protein_coding		NM_175736		9	154	9	154	---	---	---	---
AQP5	362	broad.mit.edu	37	12	50357895	50357895	+	Silent	SNP	C	C	A	rs376989326		TCGA-66-2756-01A-01D-1522-08	TCGA-66-2756-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	472c95e6-eccb-4988-be16-fdace73b2ed8	ff4f5936-f847-42ad-aedf-6a6a7fff6002	g.chr12:50357895C>A	ENST00000293599.6	+	3	697	c.549C>A	c.(547-549)tcC>tcA	p.S183S	RP11-469H8.6_ENST00000552379.1_RNA|RP11-469H8.6_ENST00000550530.1_RNA|RP11-469H8.6_ENST00000550214.1_RNA	NM_001651.2	NP_001642.1	P55064	AQP5_HUMAN	aquaporin 5	183					camera-type eye morphogenesis (GO:0048593)|carbon dioxide transport (GO:0015670)|excretion (GO:0007588)|odontogenesis (GO:0042476)|pancreatic juice secretion (GO:0030157)|saliva secretion (GO:0046541)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	apical plasma membrane (GO:0016324)|basal plasma membrane (GO:0009925)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|microvillus (GO:0005902)|plasma membrane (GO:0005886)	water channel activity (GO:0015250)	p.S183S(1)		large_intestine(1)|lung(3)	4						CTGGCTGCTCCATGAACCCAG	0.577																																						uc001rvo.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(547-549)TCC>TCA		aquaporin 5							126.0	104.0	112.0					12																	50357895		2203	4300	6503	SO:0001819	synonymous_variant	362				carbon dioxide transport|excretion|odontogenesis|pancreatic juice secretion	apical plasma membrane|integral to plasma membrane	protein binding|water channel activity	g.chr12:50357895C>A	U46569	CCDS8793.1	12q13	2013-09-10				ENSG00000161798		"""Ion channels / Aquaporins"""	638	protein-coding gene	gene with protein product		600442				8621489, 23830519	Standard	NM_001651		Approved		uc001rvo.3	P55064	OTTHUMG00000169710	ENST00000293599.6:c.549C>A	12.37:g.50357895C>A							p.S183S	NM_001651	NP_001642	P55064	AQP5_HUMAN			3	1071	+			183			Extracellular (Potential).		Q6FGW8	Silent	SNP	ENST00000293599.6	37	c.549C>A	CCDS8793.1																																																																																				PASS	0.577	AQP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405542.2	NM_001651		41	27	41	27	---	---	---	---
OR6C74	254783	broad.mit.edu	37	12	55641480	55641480	+	Nonsense_Mutation	SNP	A	A	T			TCGA-66-2756-01A-01D-1522-08	TCGA-66-2756-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	472c95e6-eccb-4988-be16-fdace73b2ed8	ff4f5936-f847-42ad-aedf-6a6a7fff6002	g.chr12:55641480A>T	ENST00000343870.4	+	1	499	c.409A>T	c.(409-411)Aga>Tga	p.R137*		NM_001005490.1	NP_001005490.1	A6NCV1	O6C74_HUMAN	olfactory receptor, family 6, subfamily C, member 74	137						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.R137*(1)		central_nervous_system(1)|large_intestine(3)|lung(7)|prostate(1)	12						CATGAGCAGCAGAGTTTGCAG	0.498																																						uc010spg.1																			1	Substitution - Nonsense(1)		lung(1)	central_nervous_system(1)	1						c.(409-411)AGA>TGA		olfactory receptor, family 6, subfamily C,							84.0	85.0	85.0					12																	55641480		2203	4300	6503	SO:0001587	stop_gained	254783				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr12:55641480A>T		CCDS31816.1	12q13.13	2012-08-09			ENSG00000197706	ENSG00000197706		"""GPCR / Class A : Olfactory receptors"""	31303	protein-coding gene	gene with protein product							Standard	NM_001005490		Approved		uc010spg.2	A6NCV1	OTTHUMG00000165162	ENST00000343870.4:c.409A>T	12.37:g.55641480A>T	ENSP00000342836:p.Arg137*						p.R137*	NM_001005490	NP_001005490	A6NCV1	O6C74_HUMAN			1	409	+			137			Cytoplasmic (Potential).			Nonsense_Mutation	SNP	ENST00000343870.4	37	c.409A>T	CCDS31816.1	.	.	.	.	.	.	.	.	.	.	a	14.82	2.650348	0.47362	.	.	ENSG00000197706	ENST00000343870	.	.	.	5.45	4.29	0.51040	.	0.700447	0.13319	N	0.396835	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	11.7082	0.51610	0.8671:0.0:0.0:0.1328	.	.	.	.	X	137	.	ENSP00000342836:R137X	R	+	1	2	OR6C74	53927747	0.000000	0.05858	0.002000	0.10522	0.017000	0.09413	0.536000	0.23129	0.984000	0.38629	0.456000	0.33151	AGA		PASS	0.498	OR6C74-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382312.1			49	167	49	167	---	---	---	---
MMP19	4327	broad.mit.edu	37	12	56231417	56231417	+	Silent	SNP	G	G	C			TCGA-66-2756-01A-01D-1522-08	TCGA-66-2756-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	472c95e6-eccb-4988-be16-fdace73b2ed8	ff4f5936-f847-42ad-aedf-6a6a7fff6002	g.chr12:56231417G>C	ENST00000322569.4	-	8	1201	c.1110C>G	c.(1108-1110)ccC>ccG	p.P370P	TMEM198B_ENST00000478241.1_RNA|MMP19_ENST00000409200.3_Intron|MMP19_ENST00000548629.1_Silent_p.P347P|MMP19_ENST00000394182.1_Silent_p.P84P	NM_002429.4	NP_002420.1	Q99542	MMP19_HUMAN	matrix metallopeptidase 19	370					angiogenesis (GO:0001525)|cell differentiation (GO:0030154)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|luteolysis (GO:0001554)|ovarian follicle development (GO:0001541)|ovulation from ovarian follicle (GO:0001542)|proteolysis (GO:0006508)|response to cAMP (GO:0051591)|response to hormone (GO:0009725)	extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.P370P(1)		endometrium(1)|kidney(2)|large_intestine(7)|lung(12)|ovary(2)|skin(2)	26					Marimastat(DB00786)	TCAGCTTCTTGGGGAAGCCAG	0.468																																						uc001sib.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(1108-1110)CCC>CCG		matrix metalloproteinase 19 isoform rasi-1							100.0	102.0	101.0					12																	56231417		2203	4300	6503	SO:0001819	synonymous_variant	4327				angiogenesis|cell differentiation|collagen catabolic process|proteolysis	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding	g.chr12:56231417G>C	X92521	CCDS8895.1, CCDS61146.1	12q14	2005-08-08	2005-08-08			ENSG00000123342			7165	protein-coding gene	gene with protein product		601807	"""matrix metalloproteinase 19"""	MMP18		9232430	Standard	NM_002429		Approved	RASI-1	uc001sib.4	Q99542	OTTHUMG00000170216	ENST00000322569.4:c.1110C>G	12.37:g.56231417G>C						MMP19_uc001sia.2_Silent_p.P84P|MMP19_uc001sid.2_RNA|MMP19_uc010spw.1_Intron	p.P370P	NM_002429	NP_002420	Q99542	MMP19_HUMAN			8	1231	-			370			Hemopexin-like 2.		B4E030|O15278|O95606|Q99580	Silent	SNP	ENST00000322569.4	37	c.1110C>G	CCDS8895.1																																																																																				PASS	0.468	MMP19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408023.1	NM_002429		24	143	24	143	---	---	---	---
IL23A	51561	broad.mit.edu	37	12	56733876	56733876	+	Silent	SNP	C	C	T			TCGA-66-2756-01A-01D-1522-08	TCGA-66-2756-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	472c95e6-eccb-4988-be16-fdace73b2ed8	ff4f5936-f847-42ad-aedf-6a6a7fff6002	g.chr12:56733876C>T	ENST00000228534.4	+	4	724	c.558C>T	c.(556-558)acC>acT	p.T186T	STAT2_ENST00000556539.1_5'Flank	NM_016584.2	NP_057668.1	Q9NPF7	IL23A_HUMAN	interleukin 23, alpha subunit p19	186					defense response to Gram-negative bacterium (GO:0050829)|defense response to virus (GO:0051607)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|negative regulation of interleukin-10 production (GO:0032693)|positive regulation of activated T cell proliferation (GO:0042104)|positive regulation of activation of JAK2 kinase activity (GO:0010535)|positive regulation of defense response to virus by host (GO:0002230)|positive regulation of granulocyte macrophage colony-stimulating factor production (GO:0032725)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-10 production (GO:0032733)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-17 production (GO:0032740)|positive regulation of memory T cell differentiation (GO:0043382)|positive regulation of natural killer cell activation (GO:0032816)|positive regulation of natural killer cell proliferation (GO:0032819)|positive regulation of neutrophil chemotaxis (GO:0090023)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|positive regulation of NK T cell activation (GO:0051135)|positive regulation of NK T cell proliferation (GO:0051142)|positive regulation of osteoclast differentiation (GO:0045672)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|positive regulation of T cell proliferation (GO:0042102)|positive regulation of T-helper 1 type immune response (GO:0002827)|positive regulation of T-helper 17 cell lineage commitment (GO:2000330)|positive regulation of T-helper 17 type immune response (GO:2000318)|positive regulation of tissue remodeling (GO:0034105)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|positive regulation of tyrosine phosphorylation of Stat4 protein (GO:0042520)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|regulation of tyrosine phosphorylation of Stat1 protein (GO:0042510)|T cell proliferation (GO:0042098)|tissue remodeling (GO:0048771)	interleukin-23 complex (GO:0070743)		p.T186T(1)		kidney(1)|lung(2)|prostate(1)|upper_aerodigestive_tract(1)	5						GAGCAGCAACCCTGAGTCCCT	0.592																																						uc001sla.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(556-558)ACC>ACT		interleukin 23, alpha subunit p19 precursor							59.0	61.0	60.0					12																	56733876		2203	4300	6503	SO:0001819	synonymous_variant	51561				defense response to Gram-negative bacterium|inflammatory response|innate immune response|negative regulation of interleukin-10 production|positive regulation of activated T cell proliferation|positive regulation of activation of JAK2 kinase activity|positive regulation of defense response to virus by host|positive regulation of granulocyte macrophage colony-stimulating factor production|positive regulation of interferon-gamma production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 production|positive regulation of interleukin-17 production|positive regulation of memory T cell differentiation|positive regulation of natural killer cell proliferation|positive regulation of NF-kappaB import into nucleus|positive regulation of NK T cell activation|positive regulation of NK T cell proliferation|positive regulation of osteoclast differentiation|positive regulation of T cell mediated cytotoxicity|positive regulation of T-helper 1 type immune response|positive regulation of T-helper 17 cell lineage commitment|positive regulation of T-helper 17 type immune response|positive regulation of tumor necrosis factor production|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat4 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|regulation of tyrosine phosphorylation of Stat1 protein|response to virus|tissue remodeling	interleukin-23 complex	cytokine activity	g.chr12:56733876C>T	AB030000	CCDS8916.1	12q13.13	2011-07-15				ENSG00000110944		"""Interleukins and interleukin receptors"""	15488	protein-coding gene	gene with protein product	"""interleukin-six, G-CSF related factor"""	605580				11114383	Standard	NM_016584		Approved	SGRF, IL23P19, IL-23, IL-23A, P19	uc001sla.3	Q9NPF7		ENST00000228534.4:c.558C>T	12.37:g.56733876C>T							p.T186T	NM_016584	NP_057668	Q9NPF7	IL23A_HUMAN			4	724	+			186					Q6NZ80|Q6NZ82|Q9H2A5	Silent	SNP	ENST00000228534.4	37	c.558C>T	CCDS8916.1																																																																																				PASS	0.592	IL23A-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_016584		20	115	20	115	---	---	---	---
USP15	9958	broad.mit.edu	37	12	62749201	62749201	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2756-01A-01D-1522-08	TCGA-66-2756-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	472c95e6-eccb-4988-be16-fdace73b2ed8	ff4f5936-f847-42ad-aedf-6a6a7fff6002	g.chr12:62749201G>T	ENST00000280377.5	+	8	918	c.860G>T	c.(859-861)gGc>gTc	p.G287V	USP15_ENST00000353364.3_Missense_Mutation_p.G258V|USP15_ENST00000393654.3_Missense_Mutation_p.G262V	NM_001252078.1	NP_001239007.1	Q9Y4E8	UBP15_HUMAN	ubiquitin specific peptidase 15	287					BMP signaling pathway (GO:0030509)|monoubiquitinated protein deubiquitination (GO:0035520)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|pathway-restricted SMAD protein phosphorylation (GO:0060389)|protein deubiquitination (GO:0016579)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	cysteine-type endopeptidase activity (GO:0004197)|identical protein binding (GO:0042802)|SMAD binding (GO:0046332)|transforming growth factor beta receptor binding (GO:0005160)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)	p.G258V(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(8)|lung(15)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	37			GBM - Glioblastoma multiforme(1;0.000276)	GBM - Glioblastoma multiforme(28;0.0622)		GAACAGCCAGGCCTCTGTGGC	0.373																																					Melanoma(181;615 2041 39364 49691 50001)	uc001src.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)|lung(1)	3						c.(859-861)GGC>GTC		ubiquitin specific peptidase 15							99.0	93.0	95.0					12																	62749201		2203	4300	6503	SO:0001583	missense	9958				protein deubiquitination|ubiquitin-dependent protein catabolic process		cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chr12:62749201G>T	AB011101	CCDS8963.1, CCDS58250.1, CCDS58251.1	12q14	2006-07-18	2005-08-08					"""Ubiquitin-specific peptidases"""	12613	protein-coding gene	gene with protein product		604731	"""ubiquitin specific protease 15"""			12838346	Standard	NM_001252078		Approved	KIAA0529, UNPH4	uc001src.2	Q9Y4E8	OTTHUMG00000170186	ENST00000280377.5:c.860G>T	12.37:g.62749201G>T	ENSP00000280377:p.Gly287Val					USP15_uc001srb.1_Missense_Mutation_p.G258V	p.G287V	NM_006313	NP_006304	Q9Y4E8	UBP15_HUMAN	GBM - Glioblastoma multiforme(1;0.000276)	GBM - Glioblastoma multiforme(28;0.0622)	8	869	+			287					Q08AL5|Q9H8G9|Q9HCA6|Q9UNP0|Q9Y5B5	Missense_Mutation	SNP	ENST00000280377.5	37	c.860G>T	CCDS58251.1	.	.	.	.	.	.	.	.	.	.	G	27.7	4.858125	0.91433	.	.	ENSG00000135655	ENST00000353364;ENST00000280377;ENST00000393654	T;T;T	0.34472	3.9;3.9;1.36	5.6	5.6	0.85130	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (1);	0.000000	0.85682	D	0.000000	T	0.72637	0.3485	H	0.94183	3.505	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.80665	-0.1281	9	.	.	.	-6.6712	19.6137	0.95619	0.0:0.0:1.0:0.0	.	287;258	Q9Y4E8;Q9Y4E8-2	UBP15_HUMAN;.	V	258;287;262	ENSP00000258123:G258V;ENSP00000280377:G287V;ENSP00000377264:G262V	.	G	+	2	0	USP15	61035468	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.916000	0.92745	2.650000	0.89964	0.557000	0.71058	GGC		PASS	0.373	USP15-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000407831.2	NM_006313		26	34	26	34	---	---	---	---
CLLU1OS	574016	broad.mit.edu	37	12	92821879	92821879	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2756-01A-01D-1522-08	TCGA-66-2756-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	472c95e6-eccb-4988-be16-fdace73b2ed8	ff4f5936-f847-42ad-aedf-6a6a7fff6002	g.chr12:92821879G>T	ENST00000378487.2	-	1	45	c.44C>A	c.(43-45)aCt>aAt	p.T15N	CLLU1_ENST00000472839.2_Intron|CLLU1OS_ENST00000538965.1_Missense_Mutation_p.T15N|RP11-693J15.4_ENST00000508671.1_RNA|CLLU1_ENST00000378485.1_Intron	NM_001025232.1	NP_001020403.1	Q5K130	CLU1O_HUMAN	chronic lymphocytic leukemia up-regulated 1 opposite strand	15								p.T15N(1)		large_intestine(1)|lung(7)	8						accagtggcagtcttaaggca	0.438																																						uc001tcb.1																			1	Substitution - Missense(1)		lung(1)		0						c.(43-45)ACT>AAT		chronic lymphocytic leukemia up-regulated 1							230.0	191.0	204.0					12																	92821879		2203	4300	6503	SO:0001583	missense	574016							g.chr12:92821879G>T	AJ845168	CCDS31871.1	12q22	2006-03-30	2006-03-30		ENSG00000205057	ENSG00000205057			24070	protein-coding gene	gene with protein product			"""chronic lymphocytic leukemia up-regulated 1 overlapping strand"""				Standard	NM_001025232		Approved		uc001tcb.1	Q5K130	OTTHUMG00000161990	ENST00000378487.2:c.44C>A	12.37:g.92821879G>T	ENSP00000367748:p.Thr15Asn					CLLU1_uc001tcc.2_Intron|CLLU1_uc001tcd.2_Intron|CLLU1_uc001tce.1_Intron|CLLU1_uc001tcf.2_Intron	p.T15N	NM_001025232	NP_001020403	Q5K130	CLU1O_HUMAN			1	46	-			15						Missense_Mutation	SNP	ENST00000378487.2	37	c.44C>A	CCDS31871.1	.	.	.	.	.	.	.	.	.	.	G	3.513	-0.099455	0.07010	.	.	ENSG00000205057	ENST00000378487;ENST00000538965	.	.	.	2.87	-0.536	0.11876	.	.	.	.	.	T	0.25232	0.0613	N	0.08118	0	0.09310	N	1	D	0.69078	0.997	D	0.63793	0.918	T	0.11991	-1.0565	8	0.87932	D	0	.	2.8186	0.05465	0.359:0.2433:0.3978:0.0	.	15	Q5K130	CLU1O_HUMAN	N	15	.	ENSP00000367748:T15N	T	-	2	0	CLLU1OS	91346010	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-1.553000	0.02174	-0.109000	0.12044	-0.234000	0.12200	ACT		PASS	0.438	CLLU1OS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366646.1			114	61	114	61	---	---	---	---
ANKS1B	56899	broad.mit.edu	37	12	99793515	99793515	+	Silent	SNP	G	G	T			TCGA-66-2756-01A-01D-1522-08	TCGA-66-2756-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	472c95e6-eccb-4988-be16-fdace73b2ed8	ff4f5936-f847-42ad-aedf-6a6a7fff6002	g.chr12:99793515G>T	ENST00000547776.2	-	12	1649	c.1650C>A	c.(1648-1650)atC>atA	p.I550I	ANKS1B_ENST00000329257.7_Silent_p.I550I|ANKS1B_ENST00000547010.1_Silent_p.I130I	NM_152788.4	NP_690001.3	Q7Z6G8	ANS1B_HUMAN	ankyrin repeat and sterile alpha motif domain containing 1B	550						cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)	ephrin receptor binding (GO:0046875)	p.I550I(1)		NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(15)|lung(38)|pancreas(1)|prostate(2)|skin(1)	70		all_cancers(3;0.0197)|all_epithelial(3;0.0101)|Esophageal squamous(3;0.0559)|Breast(359;0.209)		OV - Ovarian serous cystadenocarcinoma(2;2.89e-08)|Epithelial(2;6.12e-08)|all cancers(2;4.07e-06)		TAGATGTGTTGATTTCAAAAT	0.438																																						uc001tge.1																			1	Substitution - coding silent(1)		lung(1)		0						c.(1648-1650)ATC>ATA		cajalin 2 isoform a							192.0	210.0	204.0					12																	99793515		1898	4117	6015	SO:0001819	synonymous_variant	56899					Cajal body|cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane		g.chr12:99793515G>T	AF145204	CCDS55864.1, CCDS55865.1, CCDS55866.1, CCDS55867.1, CCDS55868.1, CCDS55869.1, CCDS55870.1, CCDS55871.1, CCDS55872.1	12q23.1	2013-01-10						"""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	24600	protein-coding gene	gene with protein product		607815				10490826, 12415113	Standard	NM_020140		Approved	EB-1, AIDA-1, cajalin-2, ANKS2	uc001tge.2	Q7Z6G8		ENST00000547776.2:c.1650C>A	12.37:g.99793515G>T						ANKS1B_uc001tgf.1_Silent_p.I130I|ANKS1B_uc009ztt.1_Silent_p.I516I	p.I550I	NM_152788	NP_690001	Q7Z6G8	ANS1B_HUMAN		OV - Ovarian serous cystadenocarcinoma(2;2.89e-08)|Epithelial(2;6.12e-08)|all cancers(2;4.07e-06)	12	2067	-		all_cancers(3;0.0197)|all_epithelial(3;0.0101)|Esophageal squamous(3;0.0559)|Breast(359;0.209)	550					A5PKY5|A7E259|A8K153|A8MSN4|B4DFP6|B4DH98|F8VPM3|F8VZR9|F8WC27|Q5XLJ0|Q6IVB5|Q6NUS4|Q7Z6G6|Q7Z6G7|Q8TAP3|Q9NRX7|Q9Y5K9	Silent	SNP	ENST00000547776.2	37	c.1650C>A	CCDS55872.1																																																																																				PASS	0.438	ANKS1B-003	KNOWN	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000408421.3	NM_020140		44	176	44	176	---	---	---	---
TCTN1	79600	broad.mit.edu	37	12	111057646	111057646	+	Missense_Mutation	SNP	G	G	C			TCGA-66-2756-01A-01D-1522-08	TCGA-66-2756-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	472c95e6-eccb-4988-be16-fdace73b2ed8	ff4f5936-f847-42ad-aedf-6a6a7fff6002	g.chr12:111057646G>C	ENST00000551590.1	+	2	382	c.226G>C	c.(226-228)Gtt>Ctt	p.V76L	TCTN1_ENST00000397655.3_Missense_Mutation_p.V76L|TCTN1_ENST00000550703.2_Missense_Mutation_p.V76L|TCTN1_ENST00000551555.2_3'UTR|TCTN1_ENST00000471804.2_Missense_Mutation_p.V76L|TCTN1_ENST00000397659.4_Missense_Mutation_p.V76L|TCTN1_ENST00000377654.3_5'UTR			Q2MV58	TECT1_HUMAN	tectonic family member 1	76					central nervous system interneuron axonogenesis (GO:0021956)|cilium morphogenesis (GO:0060271)|dorsal/ventral neural tube patterning (GO:0021904)|in utero embryonic development (GO:0001701)|neural tube formation (GO:0001841)|regulation of smoothened signaling pathway (GO:0008589)|somatic motor neuron differentiation (GO:0021523)|telencephalon development (GO:0021537)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular space (GO:0005615)|membrane (GO:0016020)|TCTN-B9D complex (GO:0036038)		p.V76L(1)		NS(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(9)|urinary_tract(1)	15						TGCAGTTGCTGTTCTCTGTGT	0.502																																						uc009zvs.2																			1	Substitution - Missense(1)		lung(1)		0						c.(226-228)GTT>CTT		tectonic family member 1 isoform 2							194.0	184.0	188.0					12																	111057646		1991	4168	6159	SO:0001583	missense	79600				multicellular organismal development	extracellular region		g.chr12:111057646G>C	AK055891	CCDS41833.1, CCDS41834.1, CCDS41835.1	12q24.11	2011-09-07			ENSG00000204852	ENSG00000204852		"""Tectonic proteins"""	26113	protein-coding gene	gene with protein product		609863				16357211	Standard	NM_001082537		Approved	FLJ21127, TECT1, JBTS13	uc001trn.4	Q2MV58	OTTHUMG00000150051	ENST00000551590.1:c.226G>C	12.37:g.111057646G>C	ENSP00000448735:p.Val76Leu					TCTN1_uc010syb.1_Missense_Mutation_p.V76L|TCTN1_uc009zvr.1_RNA|TCTN1_uc001trl.2_RNA|TCTN1_uc001trm.2_Missense_Mutation_p.V16L|TCTN1_uc010syc.1_RNA|TCTN1_uc001tro.2_RNA|TCTN1_uc001trp.3_Missense_Mutation_p.V76L|TCTN1_uc001trn.3_Missense_Mutation_p.V76L|TCTN1_uc001tri.2_Missense_Mutation_p.V20L|TCTN1_uc001trj.1_Missense_Mutation_p.V20L|TCTN1_uc001trk.3_RNA	p.V76L	NM_001082537	NP_001076006	Q2MV58	TECT1_HUMAN			2	334	+			76					A8MX11|Q49A60|Q6P5X1|Q6UXW2|Q8NAE9|Q96N72|Q9H798	Missense_Mutation	SNP	ENST00000551590.1	37	c.226G>C	CCDS41835.1	.	.	.	.	.	.	.	.	.	.	G	14.20	2.463754	0.43736	.	.	ENSG00000204852	ENST00000397650;ENST00000551590;ENST00000397655;ENST00000548095;ENST00000397659;ENST00000397652	T;T;T	0.76316	-1.01;-1.01;-1.01	5.54	4.66	0.58398	.	0.648670	0.13186	U	0.407097	T	0.58906	0.2155	N	0.08118	0	0.80722	D	1	B;B;B;B;B;B;B	0.17852	0.002;0.003;0.024;0.024;0.007;0.014;0.017	B;B;B;B;B;B;B	0.17979	0.001;0.009;0.02;0.02;0.009;0.009;0.014	T	0.55237	-0.8172	10	0.52906	T	0.07	-15.3597	7.6168	0.28163	0.2461:0.0:0.7539:0.0	.	76;76;76;76;16;20;20	B4DIB9;Q2MV58;Q2MV58-3;Q2MV58-2;C9J1H5;C9J1H4;Q05BR9	.;TECT1_HUMAN;.;.;.;.;.	L	16;76;76;76;76;20	ENSP00000448735:V76L;ENSP00000380775:V76L;ENSP00000380779:V76L	ENSP00000380771:V16L	V	+	1	0	TCTN1	109542029	1.000000	0.71417	1.000000	0.80357	0.934000	0.57294	2.518000	0.45537	1.351000	0.45789	-0.136000	0.14681	GTT		PASS	0.502	TCTN1-001	KNOWN	non_canonical_TEC|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000316016.2	NM_024549		139	57	139	57	---	---	---	---
EDNRB	1910	broad.mit.edu	37	13	78474025	78474025	+	Nonsense_Mutation	SNP	A	A	T			TCGA-66-2756-01A-01D-1522-08	TCGA-66-2756-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	472c95e6-eccb-4988-be16-fdace73b2ed8	ff4f5936-f847-42ad-aedf-6a6a7fff6002	g.chr13:78474025A>T	ENST00000334286.5	-	6	1399	c.1163T>A	c.(1162-1164)tTg>tAg	p.L388*	EDNRB_ENST00000446573.1_Nonsense_Mutation_p.L388*|EDNRB_ENST00000377211.4_Nonsense_Mutation_p.L478*	NM_000115.3|NM_001122659.2	NP_000106.1|NP_001116131.1	P24530	EDNRB_HUMAN	endothelin receptor type B	388					aging (GO:0007568)|cell surface receptor signaling pathway (GO:0007166)|cellular response to lipopolysaccharide (GO:0071222)|cGMP-mediated signaling (GO:0019934)|endothelin receptor signaling pathway (GO:0086100)|enteric nervous system development (GO:0048484)|enteric smooth muscle cell differentiation (GO:0035645)|epithelial fluid transport (GO:0042045)|macrophage chemotaxis (GO:0048246)|melanocyte differentiation (GO:0030318)|negative regulation of adenylate cyclase activity (GO:0007194)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cellular protein metabolic process (GO:0032269)|negative regulation of neuron maturation (GO:0014043)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|neural crest cell migration (GO:0001755)|peripheral nervous system development (GO:0007422)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of penile erection (GO:0060406)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of renal sodium excretion (GO:0035815)|positive regulation of urine volume (GO:0035810)|posterior midgut development (GO:0007497)|regulation of blood pressure (GO:0008217)|regulation of epithelial cell proliferation (GO:0050678)|regulation of fever generation (GO:0031620)|regulation of pH (GO:0006885)|regulation of sensory perception of pain (GO:0051930)|response to organic cyclic compound (GO:0014070)|response to pain (GO:0048265)|sensory perception of pain (GO:0019233)|vasoconstriction (GO:0042310)|vasodilation (GO:0042311)|vein smooth muscle contraction (GO:0014826)	integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|nuclear membrane (GO:0031965)|plasma membrane (GO:0005886)	endothelin receptor activity (GO:0004962)|peptide hormone binding (GO:0017046)	p.L478*(1)|p.L388*(1)		breast(2)|endometrium(2)|kidney(1)|large_intestine(18)|lung(16)|skin(3)	42		Acute lymphoblastic leukemia(28;0.0279)|Breast(118;0.037)		GBM - Glioblastoma multiforme(99;0.0933)	Bosentan(DB00559)|MACITENTAN(DB08932)|Sitaxentan(DB06268)	TTTGCTCACCAAATACAGAGC	0.343																																						uc001vko.2																			2	Substitution - Nonsense(2)		lung(2)		0						c.(1162-1164)TTG>TAG		endothelin receptor type B isoform 1 precursor	Bosentan(DB00559)						93.0	87.0	89.0					13																	78474025		2203	4299	6502	SO:0001587	stop_gained	1910				activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|enteric nervous system development|enteric smooth muscle cell differentiation|macrophage chemotaxis|negative regulation of adenylate cyclase activity|negative regulation of cellular protein metabolic process|negative regulation of neuron maturation|negative regulation of transcription from RNA polymerase II promoter|vein smooth muscle contraction	integral to plasma membrane	endothelin-B receptor activity|peptide hormone binding	g.chr13:78474025A>T	L06623	CCDS9461.1, CCDS55902.1	13q22	2012-08-08			ENSG00000136160	ENSG00000136160		"""GPCR / Class A : Endothelin receptors"""	3180	protein-coding gene	gene with protein product		131244		HSCR2, HSCR		1659806, 9556633	Standard	NM_000115		Approved	ETB	uc001vkp.1	P24530	OTTHUMG00000017111	ENST00000334286.5:c.1163T>A	13.37:g.78474025A>T	ENSP00000335311:p.Leu388*					EDNRB_uc001vkq.1_Nonsense_Mutation_p.L388*|uc001vkn.1_Intron|EDNRB_uc010aez.1_Nonsense_Mutation_p.L388*|EDNRB_uc001vkp.1_Nonsense_Mutation_p.L471*	p.L388*	NM_001122659	NP_001116131	P24530	EDNRB_HUMAN		GBM - Glioblastoma multiforme(99;0.0933)	6	1421	-		Acute lymphoblastic leukemia(28;0.0279)|Breast(118;0.037)	388			Helical; Name=7; (Potential).		A2A2Z8|A8K3T4|O15343|Q59GB1|Q5W0G9|Q8NHM6|Q8NHM7|Q8NHM8|Q8NHM9|Q9UD23|Q9UQK3	Nonsense_Mutation	SNP	ENST00000334286.5	37	c.1163T>A	CCDS9461.1	.	.	.	.	.	.	.	.	.	.	A	40	8.005020	0.98605	.	.	ENSG00000136160	ENST00000377211;ENST00000446573;ENST00000334286	.	.	.	6.06	6.06	0.98353	.	0.158783	0.56097	D	0.000034	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-8.8307	16.6245	0.84952	1.0:0.0:0.0:0.0	.	.	.	.	X	478;388;388	.	ENSP00000335311:L388X	L	-	2	0	EDNRB	77372026	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.339000	0.96797	2.323000	0.78572	0.528000	0.53228	TTG		PASS	0.343	EDNRB-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276505.1			41	22	41	22	---	---	---	---
UBAC2	337867	broad.mit.edu	37	13	100020152	100020152	+	Missense_Mutation	SNP	G	G	A			TCGA-66-2756-01A-01D-1522-08	TCGA-66-2756-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	472c95e6-eccb-4988-be16-fdace73b2ed8	ff4f5936-f847-42ad-aedf-6a6a7fff6002	g.chr13:100020152G>A	ENST00000403766.3	+	8	1054	c.919G>A	c.(919-921)Gag>Aag	p.E307K	UBAC2_ENST00000376440.2_Missense_Mutation_p.E272K|UBAC2_ENST00000460562.1_3'UTR	NM_001144072.1	NP_001137544.1	Q8NBM4	UBAC2_HUMAN	UBA domain containing 2	307	UBA. {ECO:0000255|PROSITE- ProRule:PRU00212}.				protein localization to endoplasmic reticulum (GO:0070972)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)		p.E272K(1)		breast(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(2)	10	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					AGAAGTTTCTGAGGAACAGGT	0.443																																						uc001voa.3																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(919-921)GAG>AAG		UBA domain containing 2 isoform 1							62.0	67.0	66.0					13																	100020152		2203	4300	6503	SO:0001583	missense	337867					integral to membrane		g.chr13:100020152G>A	AK055110	CCDS9490.1, CCDS45064.1	13q32.3	2012-02-01	2007-04-20	2007-04-20	ENSG00000134882	ENSG00000134882			20486	protein-coding gene	gene with protein product			"""phosphoglycerate dehydrogenase like 1"""	PHGDHL1			Standard	NM_177967		Approved	FLJ30548, RP11-178C10.1	uc001voa.4	Q8NBM4	OTTHUMG00000017267	ENST00000403766.3:c.919G>A	13.37:g.100020152G>A	ENSP00000383911:p.Glu307Lys					UBAC2_uc010tiu.1_Missense_Mutation_p.E329K|UBAC2_uc001vob.3_Missense_Mutation_p.E280K|UBAC2_uc010tiv.1_RNA|UBAC2_uc001vod.2_Missense_Mutation_p.E194K|UBAC2_uc001voc.2_Missense_Mutation_p.E272K|UBAC2_uc010tiw.1_RNA|UBAC2_uc001voh.2_Missense_Mutation_p.E111K	p.E307K	NM_001144072	NP_001137544	Q8NBM4	UBAC2_HUMAN			8	1403	+	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)		307			UBA.|Cytoplasmic (Potential).		B3KNV7|Q0VAB5|Q5W0W6|Q5W0W9|Q6GQR2|Q6P4B0|Q8N2E8|Q96NW2	Missense_Mutation	SNP	ENST00000403766.3	37	c.919G>A	CCDS45064.1	.	.	.	.	.	.	.	.	.	.	G	18.91	3.724129	0.68959	.	.	ENSG00000134882	ENST00000403766;ENST00000355700;ENST00000376440	T;T;T	0.28666	1.6;1.6;1.6	5.67	5.67	0.87782	Ubiquitin-associated/translation elongation factor EF1B, N-terminal, eukaryote (2);Ubiquitin-associated/translation elongation factor EF1B, N-terminal (1);UBA-like (1);	0.052145	0.85682	D	0.000000	T	0.59918	0.2229	M	0.85197	2.74	0.58432	D	0.999995	D;D;D;D	0.89917	1.0;0.998;1.0;1.0	D;D;D;D	0.81914	0.995;0.937;0.991;0.981	T	0.63475	-0.6629	9	.	.	.	-17.3462	15.2784	0.73760	0.0:0.0:1.0:0.0	.	237;272;307;307	B7Z6T7;Q8NBM4-2;A8K2S7;Q8NBM4	.;.;.;UBAC2_HUMAN	K	307;173;272	ENSP00000383911:E307K;ENSP00000347928:E173K;ENSP00000365623:E272K	.	E	+	1	0	UBAC2	98818153	1.000000	0.71417	0.994000	0.49952	0.245000	0.25701	5.457000	0.66672	2.667000	0.90743	0.561000	0.74099	GAG		PASS	0.443	UBAC2-002	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045588.1	NM_177967		37	16	37	16	---	---	---	---
POTEG	404785	broad.mit.edu	37	14	19563501	19563501	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2756-01A-01D-1522-08	TCGA-66-2756-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	472c95e6-eccb-4988-be16-fdace73b2ed8	ff4f5936-f847-42ad-aedf-6a6a7fff6002	g.chr14:19563501C>A	ENST00000409832.3	+	5	1067	c.1015C>A	c.(1015-1017)Cag>Aag	p.Q339K	CTD-2311B13.5_ENST00000548748.1_lincRNA|RNU6-1239P_ENST00000391310.1_RNA	NM_001005356.2	NP_001005356.1	Q6S5H5	POTEG_HUMAN	POTE ankyrin domain family, member G	339								p.Q339K(1)		cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(31)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	47						TCTATCTGGACAGACGGCCAG	0.358																																						uc001vuz.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1015-1017)CAG>AAG		POTE ankyrin domain family, member G							55.0	92.0	80.0					14																	19563501		1129	2407	3536	SO:0001583	missense	404785							g.chr14:19563501C>A		CCDS73610.1	14q11.2	2013-01-10	2008-11-26	2008-11-26	ENSG00000222036	ENSG00000222036		"""POTE ankyrin domain containing"", ""Ankyrin repeat domain containing"""	33896	protein-coding gene	gene with protein product	"""cancer/testis antigen family 104, member 4"""	608916	"""ANKRD26-like family C, member 2"""	A26C2			Standard	NR_027480		Approved	POTE14, POTE-14, POTE14alpha, CT104.4	uc001vuz.1	Q6S5H5	OTTHUMG00000170340	ENST00000409832.3:c.1015C>A	14.37:g.19563501C>A	ENSP00000386971:p.Gln339Lys					POTEG_uc001vva.1_RNA|POTEG_uc010ahc.1_RNA|uc001vvb.2_RNA	p.Q339K	NM_001005356	NP_001005356	Q6S5H5	POTEG_HUMAN			5	1067	+			339					A1L153|A6NMI9|Q6S5H6|Q6S8J2	Missense_Mutation	SNP	ENST00000409832.3	37	c.1015C>A	CCDS32018.1	.	.	.	.	.	.	.	.	.	.	c	1.185	-0.637136	0.03557	.	.	ENSG00000222036	ENST00000409832	T	0.63096	-0.02	1.09	-2.19	0.07015	Ankyrin repeat-containing domain (4);	1.132100	0.07045	U	0.830956	T	0.47284	0.1437	N	0.11789	0.175	0.09310	N	1	D	0.65815	0.995	P	0.58721	0.844	T	0.27297	-1.0078	10	0.06625	T	0.88	.	2.4176	0.04440	0.2556:0.4272:0.0:0.3172	.	339	Q6S5H5	POTEG_HUMAN	K	339	ENSP00000386971:Q339K	ENSP00000386971:Q339K	Q	+	1	0	POTEG	18633501	0.008000	0.16893	0.001000	0.08648	0.023000	0.10783	-0.699000	0.05087	-1.371000	0.02141	0.184000	0.17185	CAG		PASS	0.358	POTEG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408579.1	NM_001005356		156	511	156	511	---	---	---	---
MYH7	4625	broad.mit.edu	37	14	23886518	23886518	+	Nonsense_Mutation	SNP	C	C	A			TCGA-66-2756-01A-01D-1522-08	TCGA-66-2756-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	472c95e6-eccb-4988-be16-fdace73b2ed8	ff4f5936-f847-42ad-aedf-6a6a7fff6002	g.chr14:23886518C>A	ENST00000355349.3	-	32	4525	c.4363G>T	c.(4363-4365)Gag>Tag	p.E1455*	MIR208B_ENST00000401172.1_RNA|CTD-2201G16.1_ENST00000557368.1_RNA	NM_000257.2	NP_000248.2	P12883	MYH7_HUMAN	myosin, heavy chain 7, cardiac muscle, beta	1455					adult heart development (GO:0007512)|ATP catabolic process (GO:0006200)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|regulation of heart rate (GO:0002027)|regulation of the force of heart contraction (GO:0002026)|striated muscle contraction (GO:0006941)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|muscle myosin complex (GO:0005859)|myosin complex (GO:0016459)|myosin filament (GO:0032982)|nucleus (GO:0005634)|sarcomere (GO:0030017)|stress fiber (GO:0001725)|Z disc (GO:0030018)	actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)	p.E1455*(1)		NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	137	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00725)		TGCTTCCACTCGGCCAGGATC	0.622																																						uc001wjx.2																			1	Substitution - Nonsense(1)		lung(1)	ovary(3)|skin(1)	4						c.(4363-4365)GAG>TAG		myosin, heavy chain 7, cardiac muscle, beta							58.0	58.0	58.0					14																	23886518		2203	4300	6503	SO:0001587	stop_gained	4625				adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis	focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	g.chr14:23886518C>A	M58018	CCDS9601.1	14q11.2-q13	2014-09-17	2006-09-29		ENSG00000092054	ENSG00000092054		"""Myosins / Myosin superfamily : Class II"""	7577	protein-coding gene	gene with protein product		160760	"""myopathy, distal 1"", ""myosin, heavy polypeptide 7, cardiac muscle, beta"""	CMH1, MPD1		2494889, 8483915, 15322983	Standard	XM_005267696		Approved	CMD1S	uc001wjx.3	P12883	OTTHUMG00000028755	ENST00000355349.3:c.4363G>T	14.37:g.23886518C>A	ENSP00000347507:p.Glu1455*						p.E1455*	NM_000257	NP_000248	P12883	MYH7_HUMAN		GBM - Glioblastoma multiforme(265;0.00725)	32	4469	-	all_cancers(95;2.54e-05)		1455			Potential.		A2TDB6|B6D424|Q14836|Q14837|Q14904|Q16579|Q2M1Y6|Q92679|Q9H1D5|Q9UDA2|Q9UMM8	Nonsense_Mutation	SNP	ENST00000355349.3	37	c.4363G>T	CCDS9601.1	.	.	.	.	.	.	.	.	.	.	C	46	12.447916	0.99668	.	.	ENSG00000092054	ENST00000355349;ENST00000544444	.	.	.	5.37	5.37	0.77165	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	17.4655	0.87631	0.0:1.0:0.0:0.0	.	.	.	.	X	1455;1460	.	ENSP00000347507:E1455X	E	-	1	0	MYH7	22956358	0.998000	0.40836	1.000000	0.80357	0.991000	0.79684	3.481000	0.53179	2.793000	0.96121	0.655000	0.94253	GAG		PASS	0.622	MYH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071798.3	NM_000257		47	33	47	33	---	---	---	---
ADCY4	196883	broad.mit.edu	37	14	24787706	24787706	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2756-01A-01D-1522-08	TCGA-66-2756-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	472c95e6-eccb-4988-be16-fdace73b2ed8	ff4f5936-f847-42ad-aedf-6a6a7fff6002	g.chr14:24787706C>A	ENST00000310677.4	-	26	3263	c.3150G>T	c.(3148-3150)aaG>aaT	p.K1050N	ADCY4_ENST00000554068.2_Missense_Mutation_p.K1050N|ADCY4_ENST00000418030.2_Missense_Mutation_p.K1050N	NM_001198568.1|NM_001198592.1|NM_139247.3	NP_001185497.1|NP_001185521.1|NP_640340.2	Q8NFM4	ADCY4_HUMAN	adenylate cyclase 4	1050					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.K1050N(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)		TGCCTTTCACCTTGATGACAC	0.567																																						uc001wov.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|lung(1)|pancreas(1)	3						c.(3148-3150)AAG>AAT		adenylate cyclase 4							133.0	119.0	124.0					14																	24787706		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.chr14:24787706C>A	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.3150G>T	14.37:g.24787706C>A	ENSP00000312126:p.Lys1050Asn					ADCY4_uc001wow.2_Missense_Mutation_p.K1050N|ADCY4_uc010toh.1_Missense_Mutation_p.K736N|ADCY4_uc001wox.2_Missense_Mutation_p.K1050N|ADCY4_uc001woy.2_Missense_Mutation_p.K1050N	p.K1050N	NM_139247	NP_640340	Q8NFM4	ADCY4_HUMAN		GBM - Glioblastoma multiforme(265;0.0192)	25	3156	-			1050			Cytoplasmic (Potential).		B3KV74|D3DS75|Q17R40|Q6ZTM6|Q96ML7	Missense_Mutation	SNP	ENST00000310677.4	37	c.3150G>T	CCDS9627.1	.	.	.	.	.	.	.	.	.	.	C	7.408	0.634129	0.14322	.	.	ENSG00000129467	ENST00000310677;ENST00000554068;ENST00000418030	T;T;T	0.81247	-1.47;-1.47;-1.47	5.52	1.16	0.20824	Adenylyl cyclase class-3/4/guanylyl cyclase (3);	0.000000	0.48767	D	0.000162	T	0.48714	0.1515	N	0.02674	-0.535	0.80722	D	1	B	0.17667	0.023	B	0.25291	0.059	T	0.46803	-0.9165	10	0.02654	T	1	.	5.4829	0.16733	0.0:0.5741:0.1455:0.2804	.	1050	Q8NFM4	ADCY4_HUMAN	N	1050	ENSP00000312126:K1050N;ENSP00000452250:K1050N;ENSP00000393177:K1050N	ENSP00000312126:K1050N	K	-	3	2	ADCY4	23857546	0.247000	0.23920	1.000000	0.80357	0.995000	0.86356	-0.317000	0.08060	0.607000	0.29982	0.655000	0.94253	AAG		PASS	0.567	ADCY4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073200.4			63	49	63	49	---	---	---	---
NFATC4	4776	broad.mit.edu	37	14	24842951	24842951	+	Missense_Mutation	SNP	G	G	A			TCGA-66-2756-01A-01D-1522-08	TCGA-66-2756-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	472c95e6-eccb-4988-be16-fdace73b2ed8	ff4f5936-f847-42ad-aedf-6a6a7fff6002	g.chr14:24842951G>A	ENST00000250373.4	+	5	1751	c.1610G>A	c.(1609-1611)cGg>cAg	p.R537Q	NFATC4_ENST00000555393.1_5'Flank|NFATC4_ENST00000553469.1_Missense_Mutation_p.R569Q|NFATC4_ENST00000553879.1_Missense_Mutation_p.R467Q|NFATC4_ENST00000554473.1_Missense_Mutation_p.R72Q|NFATC4_ENST00000557451.1_Missense_Mutation_p.R467Q|NFATC4_ENST00000554591.1_Missense_Mutation_p.R600Q|NFATC4_ENST00000555802.1_5'Flank|NFATC4_ENST00000413692.2_Missense_Mutation_p.R600Q|NFATC4_ENST00000555453.1_Missense_Mutation_p.R525Q|NFATC4_ENST00000555590.1_Missense_Mutation_p.R550Q|NFATC4_ENST00000556169.1_Missense_Mutation_p.R525Q|NFATC4_ENST00000555167.1_Missense_Mutation_p.R72Q|NFATC4_ENST00000554344.1_Missense_Mutation_p.R467Q|NFATC4_ENST00000424781.2_Missense_Mutation_p.R550Q|NFATC4_ENST00000553708.1_Missense_Mutation_p.R537Q|NFATC4_ENST00000422617.3_Missense_Mutation_p.R525Q|NFATC4_ENST00000554050.1_Missense_Mutation_p.R537Q|NFATC4_ENST00000556279.1_Missense_Mutation_p.R569Q|NFATC4_ENST00000554966.1_Missense_Mutation_p.R550Q|NFATC4_ENST00000539237.2_Missense_Mutation_p.R569Q|NFATC4_ENST00000557767.1_5'Flank|NFATC4_ENST00000556759.1_Missense_Mutation_p.R72Q|NFATC4_ENST00000554661.1_Missense_Mutation_p.R467Q	NM_004554.4	NP_004545.2	Q14934	NFAC4_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 4	537	RHD. {ECO:0000255|PROSITE- ProRule:PRU00265}.				cellular respiration (GO:0045333)|cellular response to lithium ion (GO:0071285)|cellular response to UV (GO:0034644)|heart development (GO:0007507)|inflammatory response (GO:0006954)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|muscle cell development (GO:0055001)|patterning of blood vessels (GO:0001569)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|regulation of synaptic plasticity (GO:0048167)|smooth muscle cell differentiation (GO:0051145)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intermediate filament cytoskeleton (GO:0045111)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|transcription coactivator activity (GO:0003713)	p.R600Q(1)|p.R537Q(1)		breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(7)|liver(4)|lung(12)|ovary(1)|skin(2)	34				GBM - Glioblastoma multiforme(265;0.018)		ATTGAGCTTCGGAAGGGTGAG	0.577																																						uc001wpc.2																			2	Substitution - Missense(2)		lung(2)	ovary(1)|central_nervous_system(1)|skin(1)	3						c.(1609-1611)CGG>CAG		nuclear factor of activated T-cells,							106.0	105.0	105.0					14																	24842951		2203	4300	6503	SO:0001583	missense	4776				cell differentiation|inflammatory response|transcription from RNA polymerase II promoter	cytoplasm|intermediate filament cytoskeleton|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity	g.chr14:24842951G>A	BC053855	CCDS9629.1, CCDS45089.1, CCDS55909.1, CCDS55910.1, CCDS55911.1, CCDS73625.1	14q11.2	2009-11-24			ENSG00000100968	ENSG00000100968		"""Nuclear factor of activated T-cells"""	7778	protein-coding gene	gene with protein product		602699				7749981	Standard	NM_004554		Approved	NFAT3	uc010tok.2	Q14934	OTTHUMG00000029351	ENST00000250373.4:c.1610G>A	14.37:g.24842951G>A	ENSP00000250373:p.Arg537Gln					NFATC4_uc010tok.1_Missense_Mutation_p.R600Q|NFATC4_uc010tol.1_Missense_Mutation_p.R600Q|NFATC4_uc010alr.2_Missense_Mutation_p.R600Q|NFATC4_uc010als.2_Missense_Mutation_p.R550Q|NFATC4_uc010tom.1_Missense_Mutation_p.R550Q|NFATC4_uc010ton.1_Missense_Mutation_p.R550Q|NFATC4_uc010too.1_Missense_Mutation_p.R550Q|NFATC4_uc010alt.2_Missense_Mutation_p.R569Q|NFATC4_uc010top.1_Missense_Mutation_p.R569Q|NFATC4_uc010toq.1_Missense_Mutation_p.R569Q|NFATC4_uc010alu.2_Missense_Mutation_p.R229Q|NFATC4_uc010tor.1_Missense_Mutation_p.R537Q|NFATC4_uc010tos.1_Missense_Mutation_p.R467Q|NFATC4_uc010tot.1_Missense_Mutation_p.R525Q|NFATC4_uc010tou.1_Missense_Mutation_p.R467Q|NFATC4_uc010tov.1_Missense_Mutation_p.R525Q|NFATC4_uc010tow.1_Missense_Mutation_p.R467Q|NFATC4_uc010alv.2_Missense_Mutation_p.R525Q|NFATC4_uc010tox.1_Missense_Mutation_p.R467Q|NFATC4_uc001wpd.2_Missense_Mutation_p.R72Q|NFATC4_uc010toy.1_Missense_Mutation_p.R72Q|NFATC4_uc010toz.1_Missense_Mutation_p.R72Q|NFATC4_uc010tpa.1_5'UTR|NFATC4_uc010tpb.1_5'UTR	p.R537Q	NM_004554	NP_004545	Q14934	NFAC4_HUMAN		GBM - Glioblastoma multiforme(265;0.018)	5	1931	+			537			RHD.		B4DDG5|B4DY55|B5B2U7|B5B2U8|B5B2U9|B5B2V0|B5B2V1|B5B2V2|B5B2V3|B5B2V4|B5B2V5|B5B2V7|B5B2V8|B5B2V9|B5B2W0|B5B2W1|B5B2W2|B5B2W3|B5B2W4|B5B2W5|B5B2W6|B5B2W7|B5B2W8|B5B2W9|B5B2X0|Q7Z598|Q96H68	Missense_Mutation	SNP	ENST00000250373.4	37	c.1610G>A	CCDS9629.1	.	.	.	.	.	.	.	.	.	.	G	33	5.251682	0.95336	.	.	ENSG00000100968	ENST00000413692;ENST00000554591;ENST00000555590;ENST00000554966;ENST00000424781;ENST00000539237;ENST00000556279;ENST00000553469;ENST00000554050;ENST00000250373;ENST00000553708;ENST00000553879;ENST00000554344;ENST00000554661;ENST00000556169;ENST00000557451;ENST00000422617;ENST00000555453;ENST00000554473;ENST00000556759;ENST00000555167	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.85629	-2.01;-2.01;-2.01;-2.01;-2.01;-2.01;-2.01;-2.01;-2.01;-2.01;-2.01;-2.01;-2.01;-2.01;-2.01;-2.01;-2.01;-2.01;-2.01;-2.01;-2.01	4.88	4.88	0.63580	Rel homology (3);p53-like transcription factor, DNA-binding (1);	0.000000	0.85682	D	0.000000	D	0.92948	0.7756	M	0.86651	2.83	0.80722	D	1	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.81914	0.927;0.927;0.992;0.949;0.992;0.992;0.949;0.949;0.965;0.927;0.992;0.992;0.97;0.992;0.995	D	0.94011	0.7284	10	0.87932	D	0	-5.7517	15.5774	0.76404	0.0:0.0:1.0:0.0	.	525;525;569;569;550;550;550;600;600;525;467;569;514;600;537	Q14934-17;Q14934-9;Q14934-14;Q14934-4;Q14934-15;Q14934-6;Q14934-7;Q14934-2;Q14934-3;Q14934-10;Q14934-12;Q14934-5;B4DU09;Q14934-11;Q14934	.;.;.;.;.;.;.;.;.;.;.;.;.;.;NFAC4_HUMAN	Q	600;600;550;550;550;569;569;569;537;537;537;467;467;467;525;467;525;525;72;72;72	ENSP00000388910:R600Q;ENSP00000452039:R600Q;ENSP00000451224:R550Q;ENSP00000450644:R550Q;ENSP00000388668:R550Q;ENSP00000439350:R569Q;ENSP00000452270:R569Q;ENSP00000451502:R569Q;ENSP00000451151:R537Q;ENSP00000250373:R537Q;ENSP00000450590:R537Q;ENSP00000452349:R467Q;ENSP00000450469:R467Q;ENSP00000450733:R467Q;ENSP00000451454:R525Q;ENSP00000451284:R467Q;ENSP00000396788:R525Q;ENSP00000450686:R525Q;ENSP00000450810:R72Q;ENSP00000451183:R72Q;ENSP00000451395:R72Q	ENSP00000250373:R537Q	R	+	2	0	NFATC4	23912791	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.802000	0.85969	2.515000	0.84797	0.655000	0.94253	CGG		PASS	0.577	NFATC4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000073206.6	NM_004554		26	190	26	190	---	---	---	---
MBIP	51562	broad.mit.edu	37	14	36786011	36786011	+	Missense_Mutation	SNP	A	A	C			TCGA-66-2756-01A-01D-1522-08	TCGA-66-2756-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	472c95e6-eccb-4988-be16-fdace73b2ed8	ff4f5936-f847-42ad-aedf-6a6a7fff6002	g.chr14:36786011A>C	ENST00000416007.4	-	2	224	c.137T>G	c.(136-138)cTc>cGc	p.L46R	MBIP_ENST00000359527.7_Missense_Mutation_p.L46R|MBIP_ENST00000318473.7_Missense_Mutation_p.L46R|MBIP_ENST00000603913.1_5'Flank	NM_001144891.1|NM_016586.2	NP_001138363.1|NP_057670.2	Q9NS73	MBIP1_HUMAN	MAP3K12 binding inhibitory protein 1	46					chromatin organization (GO:0006325)|histone H3 acetylation (GO:0043966)|inactivation of MAPK activity involved in osmosensory signaling pathway (GO:0000173)	Ada2/Gcn5/Ada3 transcription activator complex (GO:0005671)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	identical protein binding (GO:0042802)|protein kinase inhibitor activity (GO:0004860)	p.L46R(1)		breast(2)|large_intestine(1)|lung(5)	8	all_cancers(3;1.55e-52)|all_epithelial(1;2.69e-62)|Breast(36;0.0505)|Hepatocellular(127;0.158)|Esophageal squamous(585;0.164)		Lung(8;1.28e-07)|LUAD - Lung adenocarcinoma(9;3e-07)|Epithelial(34;0.0303)|all cancers(34;0.0781)	GBM - Glioblastoma multiforme(112;0.0191)		ATCATCTCTGAGGTCAAGCTT	0.413																																						uc001wtm.2																			1	Substitution - Missense(1)		lung(1)		0						c.(136-138)CTC>CGC		MAP3K12 binding inhibitory protein 1 isoform 1							80.0	71.0	74.0					14																	36786011		2203	4300	6503	SO:0001583	missense	51562				histone H3 acetylation|inactivation of MAPK activity involved in osmosensory signaling pathway	Ada2/Gcn5/Ada3 transcription activator complex|cytoplasm|nucleolus	identical protein binding|protein kinase inhibitor activity	g.chr14:36786011A>C	BC016821	CCDS9658.1, CCDS45096.1	14q13.2	2005-01-10			ENSG00000151332	ENSG00000151332			20427	protein-coding gene	gene with protein product		609431				10801814	Standard	NM_016586		Approved		uc001wtm.2	Q9NS73	OTTHUMG00000140222	ENST00000416007.4:c.137T>G	14.37:g.36786011A>C	ENSP00000399718:p.Leu46Arg					MBIP_uc001wto.2_Missense_Mutation_p.L46R|MBIP_uc010tpy.1_5'UTR|MBIP_uc001wtn.2_Missense_Mutation_p.L46R	p.L46R	NM_016586	NP_057670	Q9NS73	MBIP1_HUMAN	Lung(8;1.28e-07)|LUAD - Lung adenocarcinoma(9;3e-07)|Epithelial(34;0.0303)|all cancers(34;0.0781)	GBM - Glioblastoma multiforme(112;0.0191)	2	225	-	all_cancers(3;1.55e-52)|all_epithelial(1;2.69e-62)|Breast(36;0.0505)|Hepatocellular(127;0.158)|Esophageal squamous(585;0.164)		46					Q86TZ2|Q96AS5|Q9BS93|Q9NZE1	Missense_Mutation	SNP	ENST00000416007.4	37	c.137T>G	CCDS9658.1	.	.	.	.	.	.	.	.	.	.	A	21.0	4.088823	0.76756	.	.	ENSG00000151332	ENST00000416007;ENST00000318473;ENST00000359527;ENST00000396329;ENST00000556427	T;T;T	0.31247	1.5;1.5;1.5	5.32	5.32	0.75619	.	0.130638	0.53938	D	0.000057	T	0.51041	0.1651	L	0.55481	1.735	0.44702	D	0.997694	D;P;D	0.89917	1.0;0.912;1.0	D;P;D	0.74674	0.984;0.76;0.984	T	0.53315	-0.8456	10	0.87932	D	0	-10.0925	15.5874	0.76495	1.0:0.0:0.0:0.0	.	46;46;46	Q9NS73-5;Q9NS73-3;Q9NS73	.;.;MBIP1_HUMAN	R	46;46;46;46;4	ENSP00000399718:L46R;ENSP00000324444:L46R;ENSP00000352517:L46R	ENSP00000324444:L46R	L	-	2	0	MBIP	35855762	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	6.667000	0.74451	2.153000	0.67306	0.477000	0.44152	CTC		PASS	0.413	MBIP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000276685.2	NM_016586		18	91	18	91	---	---	---	---
WDHD1	11169	broad.mit.edu	37	14	55493433	55493433	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2756-01A-01D-1522-08	TCGA-66-2756-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	472c95e6-eccb-4988-be16-fdace73b2ed8	ff4f5936-f847-42ad-aedf-6a6a7fff6002	g.chr14:55493433C>A	ENST00000360586.3	-	2	138	c.73G>T	c.(73-75)Ggg>Tgg	p.G25W	SOCS4_ENST00000339298.2_5'Flank|WDHD1_ENST00000421192.1_5'UTR|SOCS4_ENST00000555846.1_5'Flank|WDHD1_ENST00000420358.2_Intron|SOCS4_ENST00000395472.2_5'Flank	NM_007086.3	NP_009017.1	O75717	WDHD1_HUMAN	WD repeat and HMG-box DNA binding protein 1	25					heterochromatin maintenance (GO:0070829)|regulation of chromosome organization (GO:0033044)|RNA processing (GO:0006396)	chromosome, centromeric region (GO:0000775)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|RNA binding (GO:0003723)	p.G25W(1)		breast(3)|endometrium(4)|kidney(3)|large_intestine(9)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(2)	42						CCTTACCTCCCAGAATCATCA	0.398																																						uc001xbm.1																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(73-75)GGG>TGG		WD repeat and HMG-box DNA binding protein 1							160.0	154.0	156.0					14																	55493433		2203	4300	6503	SO:0001583	missense	11169					cytoplasm|nucleoplasm	DNA binding	g.chr14:55493433C>A	AJ006266	CCDS9721.1, CCDS41955.1	14q22.2	2013-01-09			ENSG00000198554	ENSG00000198554		"""WD repeat domain containing"""	23170	protein-coding gene	gene with protein product	"""CTF4, chromosome transmission fidelity factor 4 homolog (S. cerevisiae)"""	608126				9175701, 20028748	Standard	NM_007086		Approved	AND-1, CTF4, CHTF4	uc001xbm.2	O75717	OTTHUMG00000140304	ENST00000360586.3:c.73G>T	14.37:g.55493433C>A	ENSP00000353793:p.Gly25Trp					WDHD1_uc001xbn.1_Intron|SOCS4_uc001xbo.2_5'Flank|SOCS4_uc001xbp.2_5'Flank	p.G25W	NM_007086	NP_009017	O75717	WDHD1_HUMAN			2	151	-			25			WD 1.		C9JW18|F6W0U7	Missense_Mutation	SNP	ENST00000360586.3	37	c.73G>T	CCDS9721.1	.	.	.	.	.	.	.	.	.	.	C	19.57	3.852777	0.71719	.	.	ENSG00000198554	ENST00000360586;ENST00000455555	T;T	0.66815	4.45;-0.23	5.41	5.41	0.78517	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	D	0.88603	0.6481	H	0.97852	4.09	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.92456	0.5974	10	0.72032	D	0.01	.	15.915	0.79508	0.0:1.0:0.0:0.0	.	25	O75717	WDHD1_HUMAN	W	25	ENSP00000353793:G25W;ENSP00000413435:G25W	ENSP00000353793:G25W	G	-	1	0	WDHD1	54563183	1.000000	0.71417	1.000000	0.80357	0.651000	0.38670	5.046000	0.64226	2.533000	0.85409	0.467000	0.42956	GGG		PASS	0.398	WDHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276897.2	NM_007086		91	73	91	73	---	---	---	---
C14orf39	317761	broad.mit.edu	37	14	60928127	60928127	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2756-01A-01D-1522-08	TCGA-66-2756-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	472c95e6-eccb-4988-be16-fdace73b2ed8	ff4f5936-f847-42ad-aedf-6a6a7fff6002	g.chr14:60928127C>A	ENST00000321731.3	-	13	1221	c.1062G>T	c.(1060-1062)ttG>ttT	p.L354F		NM_174978.2	NP_777638	Q8N1H7	S6OS1_HUMAN	chromosome 14 open reading frame 39	354					multicellular organismal development (GO:0007275)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)			p.L354F(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	30				OV - Ovarian serous cystadenocarcinoma(108;0.0448)		GTGGGGTTAACAATCTAAAAT	0.279																																						uc001xez.3																			1	Substitution - Missense(1)		lung(1)	ovary(2)|haematopoietic_and_lymphoid_tissue(1)|skin(1)	4						c.(1060-1062)TTG>TTT		hypothetical protein LOC317761							54.0	51.0	52.0					14																	60928127		2203	4296	6499	SO:0001583	missense	317761							g.chr14:60928127C>A	AK098187	CCDS9746.1	14q23.1	2012-11-05	2012-11-05	2012-11-05	ENSG00000179008	ENSG00000179008			19849	protein-coding gene	gene with protein product							Standard	NM_174978		Approved	SIX6OS1	uc001xez.4	Q8N1H7	OTTHUMG00000140332	ENST00000321731.3:c.1062G>T	14.37:g.60928127C>A	ENSP00000324920:p.Leu354Phe					C14orf39_uc010apo.2_Missense_Mutation_p.L65F	p.L354F	NM_174978	NP_777638	Q08AQ4	Q08AQ4_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0448)	13	1172	-			354					Q08AQ4	Missense_Mutation	SNP	ENST00000321731.3	37	c.1062G>T	CCDS9746.1	.	.	.	.	.	.	.	.	.	.	C	10.70	1.424453	0.25639	.	.	ENSG00000179008	ENST00000321731	T	0.31247	1.5	4.93	-2.31	0.06765	.	0.000000	0.48767	D	0.000165	T	0.42921	0.1224	M	0.67953	2.075	0.09310	N	0.999998	D	0.76494	0.999	D	0.87578	0.998	T	0.20840	-1.0263	10	0.51188	T	0.08	-6.6961	5.4839	0.16739	0.0:0.3851:0.1429:0.472	.	354	Q8N1H7	S6OS1_HUMAN	F	354	ENSP00000324920:L354F	ENSP00000324920:L354F	L	-	3	2	C14orf39	59997880	0.254000	0.23992	0.093000	0.20910	0.237000	0.25408	0.825000	0.27393	-0.139000	0.11414	-0.157000	0.13467	TTG		PASS	0.279	C14orf39-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276948.1	NM_174978		12	47	12	47	---	---	---	---
RHOJ	57381	broad.mit.edu	37	14	63671679	63671679	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2756-01A-01D-1522-08	TCGA-66-2756-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	472c95e6-eccb-4988-be16-fdace73b2ed8	ff4f5936-f847-42ad-aedf-6a6a7fff6002	g.chr14:63671679C>A	ENST00000316754.3	+	1	554	c.92C>A	c.(91-93)gCc>gAc	p.A31D	RHOJ_ENST00000555125.1_Missense_Mutation_p.A31D|RHOJ_ENST00000557133.1_3'UTR	NM_020663.4	NP_065714.1	Q9H4E5	RHOJ_HUMAN	ras homolog family member J	31					actin cytoskeleton organization (GO:0030036)|GTP catabolic process (GO:0006184)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|retina vasculature morphogenesis in camera-type eye (GO:0061299)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)	p.A31E(1)|p.A31D(1)		NS(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|upper_aerodigestive_tract(1)	21				OV - Ovarian serous cystadenocarcinoma(108;0.00326)|all cancers(60;0.031)|BRCA - Breast invasive adenocarcinoma(234;0.119)		GGGGACGGTGCCGTGGGGAAA	0.562																																						uc001xgb.1																			2	Substitution - Missense(2)		lung(2)		0						c.(91-93)GCC>GAC		ras homolog gene family, member J precursor							127.0	96.0	106.0					14																	63671679		2203	4300	6503	SO:0001583	missense	57381				actin cytoskeleton organization|regulation of cell shape|regulation of small GTPase mediated signal transduction	cytosol|plasma membrane	GTP binding|GTPase activity	g.chr14:63671679C>A	AK027351	CCDS9757.1	14q23.1	2012-02-27	2012-02-27	2004-03-24	ENSG00000126785	ENSG00000126785			688	protein-coding gene	gene with protein product		607653	"""RAS-like, family 7, member B"", ""ras homolog gene family, member J"""	RASL7B, ARHJ		10967094	Standard	NM_020663		Approved	FLJ14445, TCL	uc001xgb.2	Q9H4E5	OTTHUMG00000140342	ENST00000316754.3:c.92C>A	14.37:g.63671679C>A	ENSP00000316729:p.Ala31Asp						p.A31D	NM_020663	NP_065714	Q9H4E5	RHOJ_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.00326)|all cancers(60;0.031)|BRCA - Breast invasive adenocarcinoma(234;0.119)	1	535	+			31			GTP (By similarity).		Q96KC1	Missense_Mutation	SNP	ENST00000316754.3	37	c.92C>A	CCDS9757.1	.	.	.	.	.	.	.	.	.	.	C	33	5.252218	0.95336	.	.	ENSG00000126785	ENST00000316754;ENST00000555125	T;T	0.69926	-0.44;-0.44	4.65	4.65	0.58169	Small GTP-binding protein domain (1);	0.000000	0.64402	D	0.000001	D	0.83317	0.5228	M	0.86953	2.85	0.80722	D	1	D	0.69078	0.997	D	0.64410	0.925	D	0.86841	0.2017	10	0.87932	D	0	.	18.0653	0.89389	0.0:1.0:0.0:0.0	.	31	Q9H4E5	RHOJ_HUMAN	D	31	ENSP00000316729:A31D;ENSP00000451643:A31D	ENSP00000316729:A31D	A	+	2	0	RHOJ	62741432	1.000000	0.71417	0.617000	0.29091	0.993000	0.82548	7.491000	0.81471	2.562000	0.86427	0.563000	0.77884	GCC		PASS	0.562	RHOJ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276975.3			8	39	8	39	---	---	---	---
SYNE2	23224	broad.mit.edu	37	14	64610582	64610582	+	Silent	SNP	G	G	A			TCGA-66-2756-01A-01D-1522-08	TCGA-66-2756-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	472c95e6-eccb-4988-be16-fdace73b2ed8	ff4f5936-f847-42ad-aedf-6a6a7fff6002	g.chr14:64610582G>A	ENST00000344113.4	+	83	15611	c.15399G>A	c.(15397-15399)aaG>aaA	p.K5133K	SYNE2_ENST00000554584.1_Silent_p.K5050K|SYNE2_ENST00000555002.1_Silent_p.K1767K|SYNE2_ENST00000357395.3_Silent_p.K1518K|SYNE2_ENST00000394768.2_Silent_p.K1518K|SYNE2_ENST00000358025.3_Silent_p.K5133K|ESR2_ENST00000542956.1_Intron	NM_015180.4	NP_055995.4	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	5133					centrosome localization (GO:0051642)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment or maintenance of cell polarity (GO:0007163)|fibroblast migration (GO:0010761)|nuclear envelope organization (GO:0006998)|nuclear migration (GO:0007097)|nuclear migration along microfilament (GO:0031022)|positive regulation of cell migration (GO:0030335)|protein localization to nucleus (GO:0034504)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|filopodium membrane (GO:0031527)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intermediate filament cytoskeleton (GO:0045111)|lamellipodium membrane (GO:0031258)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)|nuclear lumen (GO:0031981)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|sarcoplasmic reticulum (GO:0016529)|SUN-KASH complex (GO:0034993)|Z disc (GO:0030018)	actin binding (GO:0003779)	p.K5133K(1)		NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		TAGAAAGCAAGCGCTATGAAA	0.448																																						uc001xgm.2																			1	Substitution - coding silent(1)		lung(1)	ovary(8)|breast(4)|central_nervous_system(1)|pancreas(1)	14						c.(15397-15399)AAG>AAA		spectrin repeat containing, nuclear envelope 2							280.0	281.0	281.0					14																	64610582		2203	4300	6503	SO:0001819	synonymous_variant	23224				centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc	actin binding|protein binding	g.chr14:64610582G>A	AB023228	CCDS9761.2, CCDS41963.1, CCDS45124.1, CCDS45125.1	14q22.1-q22.3	2014-09-17			ENSG00000054654	ENSG00000054654			17084	protein-coding gene	gene with protein product	"""nuclear envelope spectrin repeat-2"", ""nucleus and actin connecting element"""	608442				10231032, 10878022	Standard	NM_182910		Approved	SYNE-2, DKFZP434H2235, Nesprin-2, NUANCE, NUA, KIAA1011, Nesp2	uc001xgl.3	Q8WXH0	OTTHUMG00000140349	ENST00000344113.4:c.15399G>A	14.37:g.64610582G>A						SYNE2_uc001xgl.2_Silent_p.K5133K|SYNE2_uc010apy.2_Silent_p.K1518K|SYNE2_uc001xgn.2_Silent_p.K95K|SYNE2_uc001xgo.2_RNA	p.K5133K	NM_015180	NP_055995	Q8WXH0	SYNE2_HUMAN		all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)	83	15629	+			5133			Spectrin 2.|Cytoplasmic (Potential).		Q540G1|Q8N1S3|Q8NF49|Q8TER7|Q8WWW3|Q8WWW4|Q8WWW5|Q8WXH1|Q9NU50|Q9UFQ4|Q9Y2L4|Q9Y4R1	Silent	SNP	ENST00000344113.4	37	c.15399G>A	CCDS41963.1																																																																																				PASS	0.448	SYNE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276994.2	NM_182914		206	164	206	164	---	---	---	---
DCAF5	8816	broad.mit.edu	37	14	69584943	69584943	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2756-01A-01D-1522-08	TCGA-66-2756-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	472c95e6-eccb-4988-be16-fdace73b2ed8	ff4f5936-f847-42ad-aedf-6a6a7fff6002	g.chr14:69584943C>A	ENST00000341516.5	-	4	595	c.448G>T	c.(448-450)Gtg>Ttg	p.V150L	DCAF5_ENST00000554215.1_Missense_Mutation_p.V68L|DCAF5_ENST00000553293.1_5'Flank|DCAF5_ENST00000557386.1_Missense_Mutation_p.V149L|DCAF5_ENST00000556847.1_Missense_Mutation_p.V68L|DCAF5_ENST00000389997.6_Missense_Mutation_p.V150L	NM_001284206.1|NM_001284207.1|NM_003861.2	NP_001271135.1|NP_001271136.1|NP_003852.1	Q96JK2	DCAF5_HUMAN	DDB1 and CUL4 associated factor 5	150					protein ubiquitination (GO:0016567)	Cul4-RING E3 ubiquitin ligase complex (GO:0080008)|mitochondrion (GO:0005739)		p.V150L(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|upper_aerodigestive_tract(2)	29						ACTGGGCTCACAGACAAGCCA	0.493																																						uc001xkp.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.(448-450)GTG>TTG		WD repeat domain 22							122.0	96.0	105.0					14																	69584943		2203	4300	6503	SO:0001583	missense	8816					CUL4 RING ubiquitin ligase complex		g.chr14:69584943C>A	AB058727	CCDS32106.1, CCDS61480.1, CCDS61481.1, CCDS73646.1	14q23-q24.1	2013-01-09	2009-07-17	2009-07-17				"""WD repeat domain containing"", ""DDB1 and CUL4 associated factors"""	20224	protein-coding gene	gene with protein product		603812	"""WD repeat domain 22"""	WDR22		9740667, 9521877	Standard	NM_003861		Approved	BCRP2, D14S1461E, BCRG2, KIAA1824	uc001xkp.3	Q96JK2		ENST00000341516.5:c.448G>T	14.37:g.69584943C>A	ENSP00000341351:p.Val150Leu					DCAF5_uc001xkq.2_Missense_Mutation_p.V149L|DCAF5_uc001xkr.3_Missense_Mutation_p.V150L|DCAF5_uc001xks.2_3'UTR	p.V150L	NM_003861	NP_003852	Q96JK2	DCAF5_HUMAN			4	667	-			150			WD 3.		B2RN31|G3V4J7|O60559|Q8N3V3|Q8N3V5	Missense_Mutation	SNP	ENST00000341516.5	37	c.448G>T	CCDS32106.1	.	.	.	.	.	.	.	.	.	.	C	24.2	4.509387	0.85282	.	.	ENSG00000139990	ENST00000341516;ENST00000554215;ENST00000556847;ENST00000557386;ENST00000389997;ENST00000554681	T;T;T;T;T;T	0.60171	0.21;0.21;0.21;0.21;0.21;0.21	5.74	5.74	0.90152	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.51007	0.1649	N	0.04636	-0.2	0.80722	D	1	B;P;P	0.48162	0.273;0.663;0.906	B;B;P	0.52646	0.187;0.374;0.705	T	0.59500	-0.7443	10	0.45353	T	0.12	-10.506	19.9173	0.97066	0.0:1.0:0.0:0.0	.	150;149;150	Q8TBB7;G3V4J7;Q96JK2	.;.;DCAF5_HUMAN	L	150;68;68;149;150;67	ENSP00000341351:V150L;ENSP00000451551:V68L;ENSP00000452052:V68L;ENSP00000451845:V149L;ENSP00000374647:V150L;ENSP00000451394:V67L	ENSP00000341351:V150L	V	-	1	0	DCAF5	68654696	1.000000	0.71417	0.972000	0.41901	0.959000	0.62525	7.487000	0.81328	2.707000	0.92482	0.563000	0.77884	GTG		PASS	0.493	DCAF5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000414806.2	NM_003861		31	36	31	36	---	---	---	---
SLC8A3	6547	broad.mit.edu	37	14	70634927	70634927	+	Silent	SNP	C	C	A			TCGA-66-2756-01A-01D-1522-08	TCGA-66-2756-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	472c95e6-eccb-4988-be16-fdace73b2ed8	ff4f5936-f847-42ad-aedf-6a6a7fff6002	g.chr14:70634927C>A	ENST00000381269.2	-	2	966	c.213G>T	c.(211-213)ggG>ggT	p.G71G	SLC8A3_ENST00000528359.1_Silent_p.G71G|SLC8A3_ENST00000357887.3_Silent_p.G71G|SLC8A3_ENST00000534137.1_Silent_p.G71G|SLC8A3_ENST00000356921.2_Silent_p.G71G	NM_058240.2|NM_183002.1	NP_489479.1|NP_892114.1	P57103	NAC3_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 3	71					blood coagulation (GO:0007596)|calcium ion export from cell (GO:1990034)|calcium ion import into cell (GO:1990035)|calcium ion transport into cytosol (GO:0060402)|cell communication (GO:0007154)|cellular response to cAMP (GO:0071320)|hematopoietic progenitor cell differentiation (GO:0002244)|ion transport (GO:0006811)|telencephalon development (GO:0021537)|transmembrane transport (GO:0055085)	dendritic spine (GO:0043197)|integral component of membrane (GO:0016021)|microtubule (GO:0005874)|mitochondrion (GO:0005739)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)	calcium:sodium antiporter activity (GO:0005432)	p.G71G(2)		NS(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(12)|lung(18)|ovary(2)|pancreas(2)|prostate(3)|skin(6)	54				BRCA - Breast invasive adenocarcinoma(234;0.0079)|all cancers(60;0.0102)|OV - Ovarian serous cystadenocarcinoma(108;0.0555)		CAATCTTGTCCCCAAGGGAAG	0.517																																						uc001xly.2																			2	Substitution - coding silent(2)		lung(2)	skin(3)|ovary(2)|breast(2)	7						c.(211-213)GGG>GGT		solute carrier family 8 (sodium/calcium							72.0	63.0	66.0					14																	70634927		2203	4300	6503	SO:0001819	synonymous_variant	6547				cell communication|platelet activation	integral to membrane|plasma membrane	calcium:sodium antiporter activity|calmodulin binding	g.chr14:70634927C>A	AJ304852	CCDS9799.1, CCDS9800.1, CCDS35498.1, CCDS41967.1, CCDS45131.1, CCDS53904.1	14q24.1	2013-05-22	2008-09-02		ENSG00000100678	ENSG00000100678		"""Solute carriers"""	11070	protein-coding gene	gene with protein product		607991				8798769	Standard	XM_005268017		Approved	NCX3	uc001xly.3	P57103	OTTHUMG00000152342	ENST00000381269.2:c.213G>T	14.37:g.70634927C>A						SLC8A3_uc001xlw.2_Silent_p.G71G|SLC8A3_uc001xlx.2_Silent_p.G71G|SLC8A3_uc001xlz.2_Silent_p.G71G|SLC8A3_uc010ara.2_RNA	p.G71G	NM_183002	NP_892114	P57103	NAC3_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.0079)|all cancers(60;0.0102)|OV - Ovarian serous cystadenocarcinoma(108;0.0555)	2	967	-			71			Extracellular (Potential).		Q5K3P6|Q5K3P7|Q8IUE9|Q8IUF0|Q8NFI7|Q96QG1|Q96QG2	Silent	SNP	ENST00000381269.2	37	c.213G>T	CCDS35498.1																																																																																				PASS	0.517	SLC8A3-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000390736.1			12	54	12	54	---	---	---	---
RBM25	58517	broad.mit.edu	37	14	73550249	73550249	+	Silent	SNP	A	A	T			TCGA-66-2756-01A-01D-1522-08	TCGA-66-2756-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	472c95e6-eccb-4988-be16-fdace73b2ed8	ff4f5936-f847-42ad-aedf-6a6a7fff6002	g.chr14:73550249A>T	ENST00000261973.7	+	5	657	c.372A>T	c.(370-372)ggA>ggT	p.G124G	RBM25_ENST00000527432.1_Silent_p.G124G|RBM25_ENST00000525321.1_Silent_p.G124G|RBM25_ENST00000540173.1_Silent_p.G124G|RBM25_ENST00000526754.1_Silent_p.G124G	NM_021239.2	NP_067062.1	P49756	RBM25_HUMAN	RNA binding motif protein 25	124	RRM. {ECO:0000255|PROSITE- ProRule:PRU00176}.				mRNA processing (GO:0006397)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|regulation of apoptotic process (GO:0042981)|RNA splicing (GO:0008380)	cytoplasm (GO:0005737)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.G124G(1)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(6)|ovary(2)|pancreas(1)	31				BRCA - Breast invasive adenocarcinoma(234;0.00362)|OV - Ovarian serous cystadenocarcinoma(108;0.0688)		GTGCTTCCGGAAAGCTTCAAG	0.323																																						uc001xno.2																			1	Substitution - coding silent(1)		lung(1)	central_nervous_system(2)|ovary(1)|breast(1)	4						c.(370-372)GGA>GGT		RNA binding motif protein 25							151.0	148.0	149.0					14																	73550249		2203	4300	6503	SO:0001819	synonymous_variant	58517				apoptosis|mRNA processing|regulation of alternative nuclear mRNA splicing, via spliceosome|RNA splicing	cytoplasm|nuclear speck	mRNA binding|nucleotide binding|protein binding	g.chr14:73550249A>T	BX647116	CCDS32113.1	14q24.3	2013-02-12	2004-04-23	2004-04-29	ENSG00000119707	ENSG00000119707		"""RNA binding motif (RRM) containing"""	23244	protein-coding gene	gene with protein product	"""functional spliceosome-associated protein 94"""	612427	"""RNA-binding region (RNP1, RRM) containing 7"""	RNPC7		9847074, 7596406	Standard	NM_021239		Approved	S164, fSAP94, NET52, Snu71	uc001xno.3	P49756	OTTHUMG00000167540	ENST00000261973.7:c.372A>T	14.37:g.73550249A>T						RBM25_uc001xnn.3_Silent_p.G124G|RBM25_uc010ttu.1_Silent_p.G124G|RBM25_uc001xnp.2_Intron	p.G124G	NM_021239	NP_067062	P49756	RBM25_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.00362)|OV - Ovarian serous cystadenocarcinoma(108;0.0688)	5	580	+			124			RRM.		A0PJL9|B2RNA8|B3KT03|Q2TA72|Q5XJ17|Q6P665|Q9H6A1|Q9UEQ5|Q9UIE9	Silent	SNP	ENST00000261973.7	37	c.372A>T	CCDS32113.1																																																																																				PASS	0.323	RBM25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394966.1	XM_027330		13	54	13	54	---	---	---	---
LTBP2	4053	broad.mit.edu	37	14	74969447	74969447	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2756-01A-01D-1522-08	TCGA-66-2756-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	472c95e6-eccb-4988-be16-fdace73b2ed8	ff4f5936-f847-42ad-aedf-6a6a7fff6002	g.chr14:74969447G>T	ENST00000261978.4	-	34	5465	c.5079C>A	c.(5077-5079)aaC>aaA	p.N1693K	LTBP2_ENST00000556690.1_Missense_Mutation_p.N1649K	NM_000428.2	NP_000419.1	Q14767	LTBP2_HUMAN	latent transforming growth factor beta binding protein 2	1693					protein secretion (GO:0009306)|protein targeting (GO:0006605)|transforming growth factor beta receptor signaling pathway (GO:0007179)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|heparin binding (GO:0008201)	p.N1693K(1)		breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|liver(1)|lung(29)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58				BRCA - Breast invasive adenocarcinoma(234;0.00219)|READ - Rectum adenocarcinoma(1;0.0649)		GACCGGCTGTGTTGGGGAAGG	0.627																																						uc001xqa.2																			1	Substitution - Missense(1)		lung(1)	liver(1)|skin(1)	2						c.(5077-5079)AAC>AAA		latent transforming growth factor beta binding							94.0	94.0	94.0					14																	74969447		2203	4300	6503	SO:0001583	missense	4053				protein secretion|protein targeting|transforming growth factor beta receptor signaling pathway	extracellular space|proteinaceous extracellular matrix	calcium ion binding|growth factor binding	g.chr14:74969447G>T		CCDS9831.1	14q24.3	2011-10-20	2001-12-04			ENSG00000119681		"""Latent transforming growth factor, beta binding proteins"""	6715	protein-coding gene	gene with protein product		602091	"""chromosome 14 open reading frame 141"""	LTBP3, C14orf141		7798248	Standard	NM_000428		Approved		uc001xqa.3	Q14767		ENST00000261978.4:c.5079C>A	14.37:g.74969447G>T	ENSP00000261978:p.Asn1693Lys						p.N1693K	NM_000428	NP_000419	Q14767	LTBP2_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.00219)|READ - Rectum adenocarcinoma(1;0.0649)	34	5466	-			1693					Q99907|Q9NS51	Missense_Mutation	SNP	ENST00000261978.4	37	c.5079C>A	CCDS9831.1	.	.	.	.	.	.	.	.	.	.	G	4.885	0.164506	0.09287	.	.	ENSG00000119681	ENST00000261978;ENST00000556690	T;T	0.77098	-1.07;-1.07	4.9	2.89	0.33648	.	0.157867	0.29280	N	0.012613	T	0.60235	0.2253	L	0.27053	0.805	0.09310	N	1	B	0.33964	0.434	B	0.32864	0.154	T	0.46871	-0.9160	10	0.19147	T	0.46	.	8.2193	0.31532	0.093:0.3258:0.5812:0.0	.	1693	Q14767	LTBP2_HUMAN	K	1693;1649	ENSP00000261978:N1693K;ENSP00000451477:N1649K	ENSP00000261978:N1693K	N	-	3	2	LTBP2	74039200	0.796000	0.28864	0.685000	0.30070	0.108000	0.19459	0.998000	0.29744	1.242000	0.43836	0.561000	0.74099	AAC		PASS	0.627	LTBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413595.1	NM_000428		102	53	102	53	---	---	---	---
SPTLC2	9517	broad.mit.edu	37	14	78063612	78063612	+	Missense_Mutation	SNP	T	T	C			TCGA-66-2756-01A-01D-1522-08	TCGA-66-2756-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	472c95e6-eccb-4988-be16-fdace73b2ed8	ff4f5936-f847-42ad-aedf-6a6a7fff6002	g.chr14:78063612T>C	ENST00000216484.2	-	2	437	c.244A>G	c.(244-246)Acc>Gcc	p.T82A		NM_004863.3	NP_004854.1	O15270	SPTC2_HUMAN	serine palmitoyltransferase, long chain base subunit 2	82					ceramide biosynthetic process (GO:0046513)|small molecule metabolic process (GO:0044281)|sphinganine biosynthetic process (GO:0046511)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)|sphingomyelin biosynthetic process (GO:0006686)|sphingosine biosynthetic process (GO:0046512)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)|serine C-palmitoyltransferase complex (GO:0017059)	pyridoxal phosphate binding (GO:0030170)|serine C-palmitoyltransferase activity (GO:0004758)	p.T82A(1)		kidney(1)|large_intestine(5)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(5)	19			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0346)	L-Serine(DB00133)	CCAAAGAGGGTGAGTACGCCA	0.398																																						uc001xub.2																			1	Substitution - Missense(1)		lung(1)	upper_aerodigestive_tract(1)|ovary(1)	2						c.(244-246)ACC>GCC		serine palmitoyltransferase, long chain base	L-Serine(DB00133)|Pyridoxal Phosphate(DB00114)						125.0	107.0	113.0					14																	78063612		2203	4300	6503	SO:0001583	missense	9517					integral to membrane|serine C-palmitoyltransferase complex	pyridoxal phosphate binding|serine C-palmitoyltransferase activity|transferase activity, transferring nitrogenous groups	g.chr14:78063612T>C	AB011098	CCDS9865.1	14q24.3	2014-09-17			ENSG00000100596	ENSG00000100596	2.3.1.50		11278	protein-coding gene	gene with protein product		605713				8921873, 9363775	Standard	NM_004863		Approved	KIAA0526, LCB2, LCB2A, hLCB2a	uc001xub.3	O15270		ENST00000216484.2:c.244A>G	14.37:g.78063612T>C	ENSP00000216484:p.Thr82Ala						p.T82A	NM_004863	NP_004854	O15270	SPTC2_HUMAN	Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0346)	2	432	-			82			Helical; (Potential).		Q16685	Missense_Mutation	SNP	ENST00000216484.2	37	c.244A>G	CCDS9865.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	18.24|18.24	3.580479|3.580479	0.65992|0.65992	.|.	.|.	ENSG00000100596|ENSG00000100596	ENST00000554901|ENST00000216484	.|T	.|0.69435	.|-0.4	4.88|4.88	4.88|4.88	0.63580|0.63580	.|.	.|0.047605	.|0.85682	.|D	.|0.000000	T|T	0.66228|0.66228	0.2768|0.2768	M|M	0.70595|0.70595	2.14|2.14	0.80722|0.80722	D|D	1|1	.|B	.|0.20780	.|0.048	.|B	.|0.16289	.|0.015	T|T	0.66520|0.66520	-0.5903|-0.5903	5|10	.|0.54805	.|T	.|0.06	-16.5909|-16.5909	14.7812|14.7812	0.69769|0.69769	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	.|82	.|O15270	.|SPTC2_HUMAN	R|A	18|82	.|ENSP00000216484:T82A	.|ENSP00000216484:T82A	H|T	-|-	2|1	0|0	SPTLC2|SPTLC2	77133365|77133365	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	7.907000|7.907000	0.87430|0.87430	1.953000|1.953000	0.56701|0.56701	0.482000|0.482000	0.46254|0.46254	CAC|ACC		PASS	0.398	SPTLC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414030.1	NM_004863		67	56	67	56	---	---	---	---
GALC	2581	broad.mit.edu	37	14	88454509	88454509	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2756-01A-01D-1522-08	TCGA-66-2756-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	472c95e6-eccb-4988-be16-fdace73b2ed8	ff4f5936-f847-42ad-aedf-6a6a7fff6002	g.chr14:88454509C>A	ENST00000261304.2	-	3	413	c.307G>T	c.(307-309)Ggt>Tgt	p.G103C	GALC_ENST00000554916.1_5'UTR|GALC_ENST00000393568.4_Missense_Mutation_p.G80C|GALC_ENST00000393569.2_Missense_Mutation_p.G77C|GALC_ENST00000544807.2_Missense_Mutation_p.G47C	NM_000153.3|NM_001201401.1	NP_000144.2|NP_001188330.1	P54803	GALC_HUMAN	galactosylceramidase	103					carbohydrate metabolic process (GO:0005975)|galactosylceramide catabolic process (GO:0006683)|glycosphingolipid metabolic process (GO:0006687)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	extracellular vesicular exosome (GO:0070062)|lysosomal lumen (GO:0043202)|lysosome (GO:0005764)	galactosylceramidase activity (GO:0004336)	p.G103C(1)		endometrium(2)|kidney(2)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						CCATCACCACCTATTTCCACT	0.368																																						uc001xvt.2																			1	Substitution - Missense(1)		lung(1)		0						c.(307-309)GGT>TGT		galactosylceramidase isoform a precursor							96.0	86.0	89.0					14																	88454509		1857	4079	5936	SO:0001583	missense	2581				carbohydrate metabolic process|galactosylceramide catabolic process	lysosome	cation binding|galactosylceramidase activity	g.chr14:88454509C>A	L23116	CCDS9878.2, CCDS55936.1, CCDS55937.1	14q31	2009-01-06	2005-11-29		ENSG00000054983	ENSG00000054983	3.2.1.46		4115	protein-coding gene	gene with protein product	"""Krabbe disease"""	606890	"""galactosylceramidase (Krabbe disease)"""				Standard	NM_000153		Approved		uc001xvt.3	P54803	OTTHUMG00000028646	ENST00000261304.2:c.307G>T	14.37:g.88454509C>A	ENSP00000261304:p.Gly103Cys					GALC_uc010tvx.1_Missense_Mutation_p.G77C|GALC_uc010tvy.1_Missense_Mutation_p.G80C|GALC_uc010tvz.1_Missense_Mutation_p.G47C|GALC_uc001xvu.1_Missense_Mutation_p.G103C	p.G103C	NM_000153	NP_000144	P54803	GALC_HUMAN			3	706	-			103					B4DKE8|B4DYN1|B4DZJ8|B7Z7Z2|J3KN25|J3KPP8|Q8J030	Missense_Mutation	SNP	ENST00000261304.2	37	c.307G>T	CCDS9878.2	.	.	.	.	.	.	.	.	.	.	C	21.8	4.199246	0.79015	.	.	ENSG00000054983	ENST00000261304;ENST00000544807;ENST00000393569;ENST00000393568;ENST00000445021	D;D;D;D	0.95821	-3.82;-3.82;-3.82;-3.82	5.69	4.81	0.61882	Glycoside hydrolase, superfamily (1);	0.101059	0.64402	D	0.000002	D	0.98090	0.9370	M	0.92219	3.285	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;1.0	D	0.98860	1.0762	10	0.87932	D	0	-21.1221	13.4518	0.61176	0.0:0.9237:0.0:0.0763	.	47;80;77;103;103	P54803-5;E7EPA4;P54803-4;G3XAI6;P54803	.;.;.;.;GALC_HUMAN	C	103;47;77;80;103	ENSP00000261304:G103C;ENSP00000437513:G47C;ENSP00000377199:G77C;ENSP00000377198:G80C	ENSP00000261304:G103C	G	-	1	0	GALC	87524262	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	6.898000	0.75676	1.411000	0.46957	0.585000	0.79938	GGT		PASS	0.368	GALC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071559.2			15	90	15	90	---	---	---	---
RIN3	79890	broad.mit.edu	37	14	93043795	93043795	+	Nonsense_Mutation	SNP	G	G	T	rs139542247		TCGA-66-2756-01A-01D-1522-08	TCGA-66-2756-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	472c95e6-eccb-4988-be16-fdace73b2ed8	ff4f5936-f847-42ad-aedf-6a6a7fff6002	g.chr14:93043795G>T	ENST00000216487.7	+	3	499	c.340G>T	c.(340-342)Gaa>Taa	p.E114*	RIN3_ENST00000418924.2_3'UTR	NM_024832.3	NP_079108.3	Q8TB24	RIN3_HUMAN	Ras and Rab interactor 3	114	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				endocytosis (GO:0006897)|positive regulation of Rab GTPase activity (GO:0032851)|signal transduction (GO:0007165)	cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)	GTPase activator activity (GO:0005096)|Rab GTPase binding (GO:0017137)|Rab guanyl-nucleotide exchange factor activity (GO:0017112)	p.E114*(1)|p.E114K(1)		endometrium(4)|kidney(2)|large_intestine(7)|lung(19)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	36		all_cancers(154;0.0701)				CGAGGTGCTCGAATACACCAT	0.522																																						uc001yap.2																			2	Substitution - Nonsense(1)|Substitution - Missense(1)		large_intestine(1)|lung(1)	lung(2)|ovary(1)	3						c.(340-342)GAA>TAA		Ras and Rab interactor 3							107.0	103.0	104.0					14																	93043795		2203	4300	6503	SO:0001587	stop_gained	79890				endocytosis|signal transduction	cytoplasmic membrane-bounded vesicle|early endosome	GTPase activator activity|Ras GTPase binding	g.chr14:93043795G>T	BC025248	CCDS32144.1	14q32.13	2008-08-29				ENSG00000100599			18751	protein-coding gene	gene with protein product		610223				11733506	Standard	NM_024832		Approved	FLJ22439	uc001yap.3	Q8TB24		ENST00000216487.7:c.340G>T	14.37:g.93043795G>T	ENSP00000216487:p.Glu114*					RIN3_uc010auk.2_5'UTR|RIN3_uc001yaq.2_Nonsense_Mutation_p.E39*	p.E114*	NM_024832	NP_079108	Q8TB24	RIN3_HUMAN			3	492	+		all_cancers(154;0.0701)	114			SH2.		Q76LB3|Q8NF30|Q8TEE8|Q8WYP4|Q9H6A5|Q9HAG1	Nonsense_Mutation	SNP	ENST00000216487.7	37	c.340G>T	CCDS32144.1	.	.	.	.	.	.	.	.	.	.	G	25.1	4.598155	0.87055	.	.	ENSG00000100599	ENST00000216487;ENST00000428147	.	.	.	4.91	4.01	0.46588	.	0.338794	0.29273	N	0.012623	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	-15.2306	11.5957	0.50972	0.0:0.18:0.82:0.0	.	.	.	.	X	114	.	ENSP00000216487:E114X	E	+	1	0	RIN3	92113548	0.993000	0.37304	0.233000	0.24025	0.004000	0.04260	2.689000	0.46993	1.184000	0.42957	0.655000	0.94253	GAA		PASS	0.522	RIN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412269.1			39	151	39	151	---	---	---	---
MOAP1	64112	broad.mit.edu	37	14	93650150	93650150	+	Silent	SNP	C	C	T			TCGA-66-2756-01A-01D-1522-08	TCGA-66-2756-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	472c95e6-eccb-4988-be16-fdace73b2ed8	ff4f5936-f847-42ad-aedf-6a6a7fff6002	g.chr14:93650150C>T	ENST00000556883.1	-	2	922	c.438G>A	c.(436-438)ttG>ttA	p.L146L	MOAP1_ENST00000298894.4_Silent_p.L146L|RP11-371E8.4_ENST00000557574.1_5'Flank|TMEM251_ENST00000283534.4_5'Flank|TMEM251_ENST00000415050.2_5'Flank			Q96BY2	MOAP1_HUMAN	modulator of apoptosis 1	146					apoptotic signaling pathway (GO:0097190)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|positive regulation of apoptotic process (GO:0043065)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:0001844)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	ubiquitin protein ligase binding (GO:0031625)	p.L146L(1)		central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|ovary(1)|skin(2)	13		all_cancers(154;0.00528)|Acute lymphoblastic leukemia(33;0.0497)|all_epithelial(191;0.125)|all_neural(303;0.13)		Epithelial(152;0.178)|all cancers(159;0.2)|COAD - Colon adenocarcinoma(157;0.204)		atgcctgtgccaacatagggg	0.532																																						uc001ybj.2																			1	Substitution - coding silent(1)		lung(1)	skin(2)|ovary(1)	3						c.(436-438)TTG>TTA		modulator of apoptosis 1							98.0	100.0	99.0					14																	93650150		2203	4300	6503	SO:0001819	synonymous_variant	64112				activation of caspase activity|apoptotic nuclear change	cytoplasm	protein homodimerization activity	g.chr14:93650150C>T	BC015044	CCDS9908.1	14q32.12	2012-02-09			ENSG00000165943	ENSG00000165943		"""Paraneoplastic Ma antigens"""	16658	protein-coding gene	gene with protein product	"""paraneoplastic Ma antigen family member 4"""	609485				11060313	Standard	NM_022151		Approved	MAP-1, PNMA4	uc001ybj.3	Q96BY2	OTTHUMG00000169184	ENST00000556883.1:c.438G>A	14.37:g.93650150C>T						C14orf109_uc001ybk.3_5'Flank|C14orf109_uc010auo.2_5'Flank	p.L146L	NM_022151	NP_071434	Q96BY2	MOAP1_HUMAN		Epithelial(152;0.178)|all cancers(159;0.2)|COAD - Colon adenocarcinoma(157;0.204)	3	808	-		all_cancers(154;0.00528)|Acute lymphoblastic leukemia(33;0.0497)|all_epithelial(191;0.125)|all_neural(303;0.13)	146					B2RDF6|Q9H833|Q9HAS1	Silent	SNP	ENST00000556883.1	37	c.438G>A	CCDS9908.1																																																																																				PASS	0.532	MOAP1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412685.1			16	229	16	229	---	---	---	---
UNC79	57578	broad.mit.edu	37	14	94129013	94129013	+	Missense_Mutation	SNP	G	G	A			TCGA-66-2756-01A-01D-1522-08	TCGA-66-2756-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	472c95e6-eccb-4988-be16-fdace73b2ed8	ff4f5936-f847-42ad-aedf-6a6a7fff6002	g.chr14:94129013G>A	ENST00000393151.2	+	41	6706	c.6706G>A	c.(6706-6708)Gcc>Acc	p.A2236T	UNC79_ENST00000555664.1_Missense_Mutation_p.A2197T|UNC79_ENST00000553484.1_Missense_Mutation_p.A2258T|UNC79_ENST00000256339.4_Missense_Mutation_p.A2059T			Q9P2D8	UNC79_HUMAN	unc-79 homolog (C. elegans)	2236					behavioral response to ethanol (GO:0048149)|ion transmembrane transport (GO:0034220)|multicellular organism growth (GO:0035264)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.A2258T(1)|p.A2059T(1)		breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4)	118						CTTCACTCTGGCCTACCTGGT	0.433																																						uc001ybv.1																			2	Substitution - Missense(2)		lung(2)	ovary(10)|skin(4)|large_intestine(3)	17						c.(6241-6243)GCC>ACC		hypothetical protein LOC57578							142.0	122.0	129.0					14																	94129013		2203	4300	6503	SO:0001583	missense	57578					integral to membrane		g.chr14:94129013G>A	AB037830	CCDS9911.2	14q32.13	2011-08-18	2011-08-18	2011-08-18	ENSG00000133958	ENSG00000133958			19966	protein-coding gene	gene with protein product			"""KIAA1409"""	KIAA1409		20714347, 21040849	Standard	NM_020818		Approved		uc001ybs.1	Q9P2D8	OTTHUMG00000029783	ENST00000393151.2:c.6706G>A	14.37:g.94129013G>A	ENSP00000376858:p.Ala2236Thr					KIAA1409_uc001ybs.1_Missense_Mutation_p.A2059T	p.A2081T	NM_020818	NP_065869	Q9P2D8	UNC79_HUMAN		Epithelial(152;0.188)	39	6324	+		all_cancers(154;0.0354)|all_epithelial(191;0.216)	2236			Helical; (Potential).		B5MDL6|Q6ZUT7	Missense_Mutation	SNP	ENST00000393151.2	37	c.6241G>A		.	.	.	.	.	.	.	.	.	.	G	17.03	3.284877	0.59867	.	.	ENSG00000133958	ENST00000256339;ENST00000555664;ENST00000553484;ENST00000393151;ENST00000393153	T;T;T;T	0.34275	1.37;1.37;1.37;1.37	5.69	5.69	0.88448	.	0.050728	0.85682	D	0.000000	T	0.30008	0.0751	L	0.29908	0.895	0.51482	D	0.999923	B	0.15141	0.012	B	0.17098	0.017	T	0.10019	-1.0648	10	0.13108	T	0.6	-14.9719	19.8193	0.96586	0.0:0.0:1.0:0.0	.	2258	C9JQL1	.	T	2059;2197;2258;2236;2258	ENSP00000256339:A2059T;ENSP00000450868:A2197T;ENSP00000451360:A2258T;ENSP00000376858:A2236T	ENSP00000256339:A2059T	A	+	1	0	KIAA1409	93198766	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.074000	0.76791	2.690000	0.91761	0.555000	0.69702	GCC		PASS	0.433	UNC79-006	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000412766.1	XM_028395		12	54	12	54	---	---	---	---
MIR377	494326	broad.mit.edu	37	14	101526921	101526921	+	RNA	SNP	T	T	C			TCGA-66-2756-01A-01D-1522-08	TCGA-66-2756-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	472c95e6-eccb-4988-be16-fdace73b2ed8	ff4f5936-f847-42ad-aedf-6a6a7fff6002	g.chr14:101526921T>C	ENST00000362145.2	+	0	0				MIR496_ENST00000385226.1_RNA|MIR154_ENST00000385243.1_RNA	NR_029869.1				microRNA 377																		CCAAGTCAGGTACTCGAATGG	0.507																																						hsa-mir-496|MI0003136																			0					0															71.0	66.0	68.0					14																	101526921		1566	3581	5147			574454							g.chr14:101526921T>C			14q32.31	2011-09-12		2008-12-18	ENSG00000199015	ENSG00000199015		"""ncRNAs / Micro RNAs"""	31870	non-coding RNA	RNA, micro				MIRN377			Standard	NR_029869		Approved	hsa-mir-377	uc010awh.1				14.37:g.101526921T>C						uc010awh.1_5'Flank|MIR377_hsa-mir-377|MI0000785_5'Flank										+									RNA	SNP	ENST00000362145.2	37	c.12T>C																																																																																					PASS	0.507	MIR377-201	KNOWN	basic	miRNA	miRNA		NR_029869		9	13	9	13	---	---	---	---
IGHD	3495	broad.mit.edu	37	14	106311806	106311806	+	RNA	SNP	T	T	C			TCGA-66-2756-01A-01D-1522-08	TCGA-66-2756-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	472c95e6-eccb-4988-be16-fdace73b2ed8	ff4f5936-f847-42ad-aedf-6a6a7fff6002	g.chr14:106311806T>C	ENST00000390556.2	-	0	204							P01880	IGHD_HUMAN	immunoglobulin heavy constant delta						immune response (GO:0006955)	blood microparticle (GO:0072562)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	antigen binding (GO:0003823)										GGTGGAGAGCTGGCTGCTTGT	0.587																																						uc010tyt.1																			0					0								Parts of antibodies, mostly variable regions.							125.0	126.0	126.0					14																	106311806		2194	4273	6467			8755							g.chr14:106311806T>C	K02875		14q32.33	2012-03-09			ENSG00000211898	ENSG00000211898		"""Immunoglobulins / IGH locus"""	5480	other	immunoglobulin gene	"""immunoglobulin delta"", ""constant region of heavy chain of IgD"""	147170				3922054	Standard	NG_001019		Approved	FLJ00382, FLJ46727, MGC29633	uc001ysj.3	P01880	OTTHUMG00000152538		14.37:g.106311806T>C						uc001yrs.2_Intron|uc001yrt.2_Intron|uc001yrw.1_Intron|uc001yrx.1_Intron|uc001yrz.1_Intron|uc001yse.2_Intron|uc001ysf.2_Intron|uc001ysj.2_Missense_Mutation_p.Q83R|uc001ysk.1_Missense_Mutation_p.Q83R|uc001ysl.1_Missense_Mutation_p.Q83R|uc001ysm.1_Missense_Mutation_p.Q26R|uc001ysn.1_Missense_Mutation_p.Q26R|uc001yso.1_Missense_Mutation_p.Q26R								3608		-								Q6P4I8|Q8WU38	RNA	SNP	ENST00000390556.2	37	c.57117A>G																																																																																					PASS	0.587	IGHD-001	KNOWN	mRNA_start_NF|cds_start_NF|basic|appris_principal	IG_C_gene	IG_C_gene	OTTHUMT00000326652.1	NG_001019		42	36	42	36	---	---	---	---
IGHV4-28	28400	broad.mit.edu	37	14	106780656	106780656	+	RNA	SNP	A	A	T			TCGA-66-2756-01A-01D-1522-08	TCGA-66-2756-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	472c95e6-eccb-4988-be16-fdace73b2ed8	ff4f5936-f847-42ad-aedf-6a6a7fff6002	g.chr14:106780656A>T	ENST00000390612.2	-	0	279									immunoglobulin heavy variable 4-28																		TAATAGATGTACCCAATCCAC	0.557																																						uc010tyt.1																			0					0								Parts of antibodies, mostly variable regions.							145.0	150.0	148.0					14																	106780656		1977	4145	6122			8755							g.chr14:106780656A>T	X05714		14q32.33	2012-02-08			ENSG00000211952	ENSG00000211952		"""Immunoglobulins / IGH locus"""	5645	other	immunoglobulin gene							Standard	NG_001019		Approved				OTTHUMG00000152062		14.37:g.106780656A>T														413		-									RNA	SNP	ENST00000390612.2	37	c.15206T>A																																																																																					PASS	0.557	IGHV4-28-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IG_V_gene	OTTHUMT00000325156.1	NG_001019		29	122	29	122	---	---	---	---
IGHV1-58	28464	broad.mit.edu	37	14	107078494	107078494	+	RNA	SNP	G	G	A			TCGA-66-2756-01A-01D-1522-08	TCGA-66-2756-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	472c95e6-eccb-4988-be16-fdace73b2ed8	ff4f5936-f847-42ad-aedf-6a6a7fff6002	g.chr14:107078494G>A	ENST00000390628.2	-	0	290									immunoglobulin heavy variable 1-58																		TGCGTAGTTTGTGTTACCACT	0.532																																						uc010tyt.1																			0					0								Parts of antibodies, mostly variable regions.							147.0	156.0	153.0					14																	107078494		2092	4216	6308			8755							g.chr14:107078494G>A	M29809		14q32.33	2012-02-08			ENSG00000211968	ENSG00000211968		"""Immunoglobulins / IGH locus"""	5555	other	immunoglobulin gene							Standard	NG_001019		Approved				OTTHUMG00000151953		14.37:g.107078494G>A														117		-									RNA	SNP	ENST00000390628.2	37	c.5796C>T																																																																																					PASS	0.532	IGHV1-58-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IG_V_gene	OTTHUMT00000324599.1	NG_001019		69	100	69	100	---	---	---	---
GABRB3	2562	broad.mit.edu	37	15	26792999	26792999	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2756-01A-01D-1522-08	TCGA-66-2756-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	472c95e6-eccb-4988-be16-fdace73b2ed8	ff4f5936-f847-42ad-aedf-6a6a7fff6002	g.chr15:26792999C>G	ENST00000311550.5	-	9	1474	c.1363G>C	c.(1363-1365)Gtg>Ctg	p.V455L	GABRB3_ENST00000541819.2_Missense_Mutation_p.V511L|GABRB3_ENST00000400188.3_Missense_Mutation_p.V384L|GABRB3_ENST00000299267.4_Missense_Mutation_p.V455L|GABRB3_ENST00000545868.1_Missense_Mutation_p.V370L	NM_000814.5|NM_001278631.1	NP_000805.1|NP_001265560.1	P28472	GBRB3_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta 3	455					cellular response to histamine (GO:0071420)|chloride transmembrane transport (GO:1902476)|cochlea development (GO:0090102)|inner ear receptor cell development (GO:0060119)|innervation (GO:0060384)|ion transmembrane transport (GO:0034220)|negative regulation of neuron apoptotic process (GO:0043524)|palate development (GO:0060021)|sensory perception of sound (GO:0007605)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|GABA-A receptor complex (GO:1902711)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)|GABA-gated chloride ion channel activity (GO:0022851)	p.V455L(2)|p.V511L(1)		NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|liver(1)|lung(41)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	68		all_cancers(20;1.89e-22)|all_lung(180;6.35e-15)|Breast(32;0.000279)|Colorectal(260;0.232)		all cancers(64;1.46e-07)|Epithelial(43;2.89e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0251)|COAD - Colon adenocarcinoma(236;0.235)|Lung(196;0.243)	Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Fospropofol(DB06716)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Ivermectin(DB00602)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Piperazine(DB00592)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	AATGGAAACACGATCCTGGAC	0.398																																						uc001zaz.2																			3	Substitution - Missense(3)		lung(3)	upper_aerodigestive_tract(1)|ovary(1)|lung(1)|liver(1)|central_nervous_system(1)	5						c.(1363-1365)GTG>CTG		gamma-aminobutyric acid (GABA) A receptor, beta	Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)						124.0	103.0	110.0					15																	26792999		2203	4300	6503	SO:0001583	missense	2562				synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity	g.chr15:26792999C>G		CCDS10018.1, CCDS10019.1, CCDS53920.1, CCDS53921.1	15q12	2012-06-22			ENSG00000166206	ENSG00000166206		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4083	protein-coding gene	gene with protein product	"""GABA(A) receptor, beta 3"""	137192					Standard	NM_000814		Approved		uc001zaz.3	P28472	OTTHUMG00000129231	ENST00000311550.5:c.1363G>C	15.37:g.26792999C>G	ENSP00000308725:p.Val455Leu					GABRB3_uc010uae.1_Missense_Mutation_p.V370L|GABRB3_uc001zba.2_Missense_Mutation_p.V455L|GABRB3_uc001zbb.2_Missense_Mutation_p.V511L	p.V455L	NM_000814	NP_000805	P28472	GBRB3_HUMAN		all cancers(64;1.46e-07)|Epithelial(43;2.89e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0251)|COAD - Colon adenocarcinoma(236;0.235)|Lung(196;0.243)	9	1505	-		all_cancers(20;1.89e-22)|all_lung(180;6.35e-15)|Breast(32;0.000279)|Colorectal(260;0.232)	455			Helical; (Probable).		B7Z2W1|B7Z825|F5H3D2|H7BYV8|Q14352|Q96FM5	Missense_Mutation	SNP	ENST00000311550.5	37	c.1363G>C	CCDS10019.1	.	.	.	.	.	.	.	.	.	.	C	11.08	1.533673	0.27387	.	.	ENSG00000166206	ENST00000311550;ENST00000541819;ENST00000299267;ENST00000400188;ENST00000545868	D;D;D;D;D	0.81499	-1.5;-1.5;-1.5;-1.5;-1.5	6.03	6.03	0.97812	Neurotransmitter-gated ion-channel transmembrane domain (2);	0.049791	0.85682	D	0.000000	T	0.72938	0.3523	N	0.25647	0.755	0.58432	D	0.999999	B;B;B	0.16396	0.011;0.017;0.012	B;B;B	0.25614	0.025;0.037;0.062	T	0.65594	-0.6130	10	0.15499	T	0.54	.	19.545	0.95291	0.0:1.0:0.0:0.0	.	511;455;455	F5H7N0;P28472-2;P28472	.;.;GBRB3_HUMAN	L	455;511;455;384;370	ENSP00000308725:V455L;ENSP00000442408:V511L;ENSP00000299267:V455L;ENSP00000383049:V384L;ENSP00000439169:V370L	ENSP00000299267:V455L	V	-	1	0	GABRB3	24344092	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.438000	0.59961	2.861000	0.98227	0.655000	0.94253	GTG		PASS	0.398	GABRB3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251352.2			44	79	44	79	---	---	---	---
CHRM5	1133	broad.mit.edu	37	15	34355547	34355547	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2756-01A-01D-1522-08	TCGA-66-2756-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	472c95e6-eccb-4988-be16-fdace73b2ed8	ff4f5936-f847-42ad-aedf-6a6a7fff6002	g.chr15:34355547C>T	ENST00000383263.5	+	3	1299	c.629C>T	c.(628-630)aCc>aTc	p.T210I	CHRM5_ENST00000557872.1_Missense_Mutation_p.T210I	NM_012125.3	NP_036257.1	P08912	ACM5_HUMAN	cholinergic receptor, muscarinic 5	210					adenylate cyclase-inhibiting G-protein coupled acetylcholine receptor signaling pathway (GO:0007197)|cell proliferation (GO:0008283)|dopamine transport (GO:0015872)|G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)|gastric acid secretion (GO:0001696)|metabolic process (GO:0008152)|regulation of phosphatidylinositol dephosphorylation (GO:0060304)|transmission of nerve impulse (GO:0019226)	cell junction (GO:0030054)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	G-protein coupled acetylcholine receptor activity (GO:0016907)|phosphatidylinositol phospholipase C activity (GO:0004435)	p.T210I(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|skin(1)	20		all_lung(180;1.76e-08)		all cancers(64;4.82e-17)|GBM - Glioblastoma multiforme(113;2.58e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0262)	Aclidinium(DB08897)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Aripiprazole(DB01238)|Atropine(DB00572)|Brompheniramine(DB00835)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clozapine(DB00363)|Cryptenamine(DB00785)|Darifenacin(DB00496)|Desipramine(DB01151)|Doxepin(DB01142)|Fesoterodine(DB06702)|Homatropine Methylbromide(DB00725)|Imipramine(DB00458)|Ketamine(DB01221)|Loxapine(DB00408)|Maprotiline(DB00934)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Nicardipine(DB00622)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Paroxetine(DB00715)|Pethidine(DB00454)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Scopolamine(DB00747)|Solifenacin(DB01591)|Tolterodine(DB01036)|Trihexyphenidyl(DB00376)|Trimipramine(DB00726)|Ziprasidone(DB00246)	TCTGTCATGACCATCCTCTAC	0.512																																						uc001zhk.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.(628-630)ACC>ATC		cholinergic receptor, muscarinic 5	Atropine(DB00572)|Benzquinamide(DB00767)|Cryptenamine(DB00785)|Homatropine Methylbromide(DB00725)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Olanzapine(DB00334)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Thiethylperazine(DB00372)						240.0	249.0	246.0					15																	34355547		2201	4298	6499	SO:0001583	missense	1133				cell proliferation|inhibition of adenylate cyclase activity by muscarinic acetylcholine receptor signaling pathway	cell junction|integral to plasma membrane|postsynaptic membrane	muscarinic acetylcholine receptor activity|phosphatidylinositol phospholipase C activity	g.chr15:34355547C>T		CCDS10031.1	15q26	2012-08-08			ENSG00000184984	ENSG00000184984		"""Cholinergic receptors"", ""GPCR / Class A : Cholinergic receptors, muscarinic"""	1954	protein-coding gene	gene with protein product	"""acetylcholine receptor, muscarinic 5"""	118496					Standard	NM_012125		Approved		uc001zhk.1	P08912	OTTHUMG00000129369	ENST00000383263.5:c.629C>T	15.37:g.34355547C>T	ENSP00000372750:p.Thr210Ile					CHRM5_uc001zhl.1_Missense_Mutation_p.T210I	p.T210I	NM_012125	NP_036257	P08912	ACM5_HUMAN		all cancers(64;4.82e-17)|GBM - Glioblastoma multiforme(113;2.58e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0262)	3	1299	+		all_lung(180;1.76e-08)	210			Helical; Name=5; (By similarity).		Q96RG7	Missense_Mutation	SNP	ENST00000383263.5	37	c.629C>T	CCDS10031.1	.	.	.	.	.	.	.	.	.	.	C	15.22	2.768566	0.49680	.	.	ENSG00000184984	ENST00000383263	T	0.71341	-0.56	5.32	5.32	0.75619	GPCR, rhodopsin-like superfamily (1);	0.052676	0.85682	D	0.000000	T	0.73048	0.3537	N	0.16233	0.39	0.80722	D	1	P	0.50943	0.94	P	0.62014	0.897	T	0.74028	-0.3796	10	0.42905	T	0.14	-21.588	19.1883	0.93653	0.0:1.0:0.0:0.0	.	210	P08912	ACM5_HUMAN	I	210	ENSP00000372750:T210I	ENSP00000372750:T210I	T	+	2	0	CHRM5	32142839	1.000000	0.71417	0.994000	0.49952	0.998000	0.95712	5.932000	0.70121	2.764000	0.94973	0.650000	0.86243	ACC		PASS	0.512	CHRM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251521.2			178	100	178	100	---	---	---	---
SLC12A1	6557	broad.mit.edu	37	15	48548064	48548064	+	Missense_Mutation	SNP	G	G	A			TCGA-66-2756-01A-01D-1522-08	TCGA-66-2756-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	472c95e6-eccb-4988-be16-fdace73b2ed8	ff4f5936-f847-42ad-aedf-6a6a7fff6002	g.chr15:48548064G>A	ENST00000558405.1	+	15	2013	c.1999G>A	c.(1999-2001)Gct>Act	p.A667T	SLC12A1_ENST00000380993.3_Missense_Mutation_p.A667T|SLC12A1_ENST00000396577.3_Missense_Mutation_p.A667T			Q13621	S12A1_HUMAN	solute carrier family 12 (sodium/potassium/chloride transporter), member 1	667					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.A667T(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)	TTTAGACAATGCTCTGGAATT	0.463																																						uc001zwn.3																			2	Substitution - Missense(2)		lung(2)	ovary(1)|central_nervous_system(1)	2						c.(1999-2001)GCT>ACT		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)						82.0	70.0	74.0					15																	48548064		2198	4297	6495	SO:0001583	missense	6557				potassium ion transport|sodium ion transport	integral to membrane|membrane fraction	sodium:potassium:chloride symporter activity	g.chr15:48548064G>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.1999G>A	15.37:g.48548064G>A	ENSP00000453409:p.Ala667Thr					SLC12A1_uc010uew.1_Missense_Mutation_p.A473T|SLC12A1_uc010bem.2_Missense_Mutation_p.A667T|SLC12A1_uc001zwq.3_Missense_Mutation_p.A438T|SLC12A1_uc001zwr.3_Missense_Mutation_p.A394T	p.A667T	NM_000338	NP_000329	Q13621	S12A1_HUMAN		all cancers(107;1.76e-09)|GBM - Glioblastoma multiforme(94;1.48e-06)	16	2215	+		all_lung(180;0.00219)	667					A8JYA2|E9PDW4	Missense_Mutation	SNP	ENST00000558405.1	37	c.1999G>A	CCDS10129.2	.	.	.	.	.	.	.	.	.	.	G	17.95	3.512801	0.64522	.	.	ENSG00000074803	ENST00000428362;ENST00000380993;ENST00000396577;ENST00000546071	D;D	0.98777	-5.13;-5.13	6.06	6.06	0.98353	Amino acid permease domain (1);	0.000000	0.85682	D	0.000000	D	0.96423	0.8833	N	0.25201	0.72	0.80722	D	1	P;B	0.39601	0.68;0.345	B;B	0.40066	0.318;0.163	D	0.95404	0.8492	10	0.15499	T	0.54	.	20.6208	0.99490	0.0:0.0:1.0:0.0	.	667;667	E9PDW4;Q13621	.;S12A1_HUMAN	T	480;667;667;61	ENSP00000370381:A667T;ENSP00000379822:A667T	ENSP00000370381:A667T	A	+	1	0	SLC12A1	46335356	1.000000	0.71417	0.996000	0.52242	0.937000	0.57800	6.621000	0.74228	2.882000	0.98803	0.655000	0.94253	GCT		PASS	0.463	SLC12A1-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417131.1			7	6	7	6	---	---	---	---
FBN1	2200	broad.mit.edu	37	15	48826374	48826374	+	Silent	SNP	C	C	A			TCGA-66-2756-01A-01D-1522-08	TCGA-66-2756-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	472c95e6-eccb-4988-be16-fdace73b2ed8	ff4f5936-f847-42ad-aedf-6a6a7fff6002	g.chr15:48826374C>A	ENST00000316623.5	-	8	1220	c.765G>T	c.(763-765)ggG>ggT	p.G255G		NM_000138.4	NP_000129	P35555	FBN1_HUMAN	fibrillin 1	255	EGF-like 4; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|heart development (GO:0007507)|kidney development (GO:0001822)|sequestering of BMP in extracellular matrix (GO:0035582)|sequestering of TGFbeta in extracellular matrix (GO:0035583)|skeletal system development (GO:0001501)	basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|microfibril (GO:0001527)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)	p.G255G(1)		NS(1)|breast(5)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|liver(1)|lung(49)|ovary(4)|pancreas(1)|prostate(9)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	139		all_lung(180;0.00279)		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)		CCTGACAGAGCCCGGGGATGG	0.393																																						uc001zwx.1																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|large_intestine(1)	3						c.(763-765)GGG>GGT		fibrillin 1 precursor							182.0	194.0	190.0					15																	48826374		2197	4296	6493	SO:0001819	synonymous_variant	2200				heart development|negative regulation of BMP signaling pathway by extracellular sequestering of BMP|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|skeletal system development	basement membrane|extracellular space|microfibril	calcium ion binding|extracellular matrix structural constituent|protein binding	g.chr15:48826374C>A	X63556	CCDS32232.1	15q21.1	2014-09-17	2006-04-25			ENSG00000166147			3603	protein-coding gene	gene with protein product	"""Marfan syndrome"""	134797	"""fibrillin 1 (Marfan syndrome)"""	FBN, MFS1, WMS		10036187, 12525539	Standard	NM_000138		Approved	MASS, OCTD, SGS	uc001zwx.2	P35555		ENST00000316623.5:c.765G>T	15.37:g.48826374C>A							p.G255G	NM_000138	NP_000129	P35555	FBN1_HUMAN		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)	8	1093	-		all_lung(180;0.00279)	255			EGF-like 4; calcium-binding.		B2RUU0|D2JYH6|Q15972|Q75N87	Silent	SNP	ENST00000316623.5	37	c.765G>T	CCDS32232.1																																																																																				PASS	0.393	FBN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417355.1			162	104	162	104	---	---	---	---
CILP	8483	broad.mit.edu	37	15	65491427	65491427	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2756-01A-01D-1522-08	TCGA-66-2756-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	472c95e6-eccb-4988-be16-fdace73b2ed8	ff4f5936-f847-42ad-aedf-6a6a7fff6002	g.chr15:65491427C>A	ENST00000261883.4	-	9	1363	c.1197G>T	c.(1195-1197)gaG>gaT	p.E399D		NM_003613.3	NP_003604	O75339	CILP1_HUMAN	cartilage intermediate layer protein, nucleotide pyrophosphohydrolase	399					negative regulation of insulin-like growth factor receptor signaling pathway (GO:0043569)	extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)		p.E399D(1)		breast(5)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(17)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(1)	55						TGCAAGGAGTCTCATCAGATG	0.468																																						uc002aon.2																			1	Substitution - Missense(1)		lung(1)	ovary(4)|pancreas(2)|skin(1)	7						c.(1195-1197)GAG>GAT		cartilage intermediate layer protein							39.0	38.0	38.0					15																	65491427		2199	4276	6475	SO:0001583	missense	8483				negative regulation of insulin-like growth factor receptor signaling pathway	extracellular matrix part|extracellular space|proteinaceous extracellular matrix		g.chr15:65491427C>A	AY358904	CCDS10203.1	15q22	2013-01-14			ENSG00000138615	ENSG00000138615		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	1980	protein-coding gene	gene with protein product		603489				9722584, 9722583	Standard	NM_003613		Approved	HsT18872	uc002aon.2	O75339	OTTHUMG00000133140	ENST00000261883.4:c.1197G>T	15.37:g.65491427C>A	ENSP00000261883:p.Glu399Asp						p.E399D	NM_003613	NP_003604	O75339	CILP1_HUMAN			9	1378	-			399					B2R8F7|Q6UW99|Q8IYI5	Missense_Mutation	SNP	ENST00000261883.4	37	c.1197G>T	CCDS10203.1	.	.	.	.	.	.	.	.	.	.	C	10.94	1.492031	0.26774	.	.	ENSG00000138615	ENST00000261883	T	0.37915	1.17	5.93	4.06	0.47325	.	0.150498	0.64402	D	0.000016	T	0.25717	0.0626	L	0.41710	1.295	0.36029	D	0.839249	B	0.09022	0.002	B	0.12156	0.007	T	0.17684	-1.0361	10	0.21014	T	0.42	-11.8974	7.0274	0.24948	0.139:0.7185:0.0:0.1426	.	399	O75339	CILP1_HUMAN	D	399	ENSP00000261883:E399D	ENSP00000261883:E399D	E	-	3	2	CILP	63278480	0.998000	0.40836	0.052000	0.19188	0.084000	0.17831	2.342000	0.43992	0.852000	0.35287	-0.150000	0.13652	GAG		PASS	0.468	CILP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256829.1	NM_003613		35	21	35	21	---	---	---	---
UACA	55075	broad.mit.edu	37	15	70959875	70959875	+	Missense_Mutation	SNP	G	G	C			TCGA-66-2756-01A-01D-1522-08	TCGA-66-2756-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	472c95e6-eccb-4988-be16-fdace73b2ed8	ff4f5936-f847-42ad-aedf-6a6a7fff6002	g.chr15:70959875G>C	ENST00000322954.6	-	16	3333	c.3148C>G	c.(3148-3150)Ctc>Gtc	p.L1050V	UACA_ENST00000379983.2_Missense_Mutation_p.L1037V|UACA_ENST00000560441.1_Missense_Mutation_p.L1035V|UACA_ENST00000539319.1_Missense_Mutation_p.L941V	NM_018003.2	NP_060473.2	Q9BZF9	UACA_HUMAN	uveal autoantigen with coiled-coil domains and ankyrin repeats	1050					intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|intrinsic apoptotic signaling pathway in response to oxidative stress (GO:0008631)|negative regulation of inflammatory response (GO:0050728)|negative regulation of NF-kappaB import into nucleus (GO:0042347)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of protein import into nucleus (GO:0042307)|response to UV (GO:0009411)	apoptosome (GO:0043293)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)		p.L1050V(1)|p.L1037V(1)		breast(2)|endometrium(7)|kidney(4)|large_intestine(13)|lung(17)|ovary(2)|pancreas(1)|prostate(2)|skin(2)	50						TTCTCAATGAGAACTGTCTTA	0.348																																						uc002asr.2																			2	Substitution - Missense(2)		lung(2)	ovary(2)|pancreas(1)|skin(1)	4						c.(3148-3150)CTC>GTC		uveal autoantigen with coiled-coil domains and							110.0	102.0	105.0					15																	70959875		2198	4298	6496	SO:0001583	missense	55075					cytoskeleton|extracellular region		g.chr15:70959875G>C	AF322916	CCDS10235.1, CCDS32280.1	15q22-q24	2013-01-10			ENSG00000137831	ENSG00000137831		"""Ankyrin repeat domain containing"""	15947	protein-coding gene	gene with protein product		612516				11162650, 10997877	Standard	NM_001008224		Approved	FLJ10128, KIAA1561	uc002asr.3	Q9BZF9	OTTHUMG00000133363	ENST00000322954.6:c.3148C>G	15.37:g.70959875G>C	ENSP00000314556:p.Leu1050Val					UACA_uc010uke.1_Missense_Mutation_p.L941V|UACA_uc002asq.2_Missense_Mutation_p.L1037V|UACA_uc010bin.1_Missense_Mutation_p.L1025V	p.L1050V	NM_018003	NP_060473	Q9BZF9	UACA_HUMAN			16	3252	-			1050			Potential.		G3XAG2|Q14DD3|Q8N3B8|Q96NH6|Q9HCL1|Q9NWC6	Missense_Mutation	SNP	ENST00000322954.6	37	c.3148C>G	CCDS10235.1	.	.	.	.	.	.	.	.	.	.	G	8.188	0.795421	0.16327	.	.	ENSG00000137831	ENST00000322954;ENST00000379983;ENST00000539319	T;T;T	0.35789	1.29;1.31;1.78	5.82	2.9	0.33743	.	0.111071	0.40469	N	0.001100	T	0.36082	0.0954	M	0.63428	1.95	0.09310	N	1	P;P;P;P	0.39352	0.619;0.485;0.626;0.669	B;B;B;B	0.43536	0.204;0.101;0.101;0.423	T	0.17592	-1.0364	10	0.14252	T	0.57	-0.1373	9.959	0.41684	0.069:0.2612:0.6698:0.0	.	941;1050;1050;1037	F5H2B9;B7ZKM6;Q9BZF9;G3XAG2	.;.;UACA_HUMAN;.	V	1050;1037;941	ENSP00000314556:L1050V;ENSP00000369319:L1037V;ENSP00000438667:L941V	ENSP00000314556:L1050V	L	-	1	0	UACA	68746929	0.124000	0.22315	0.000000	0.03702	0.771000	0.43674	1.080000	0.30779	0.360000	0.24265	0.561000	0.74099	CTC		PASS	0.348	UACA-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257199.2			68	32	68	32	---	---	---	---
TMEM202	338949	broad.mit.edu	37	15	72690670	72690670	+	Start_Codon_SNP	SNP	G	G	A			TCGA-66-2756-01A-01D-1522-08	TCGA-66-2756-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	472c95e6-eccb-4988-be16-fdace73b2ed8	ff4f5936-f847-42ad-aedf-6a6a7fff6002	g.chr15:72690670G>A	ENST00000341689.3	+	1	57	c.3G>A	c.(1-3)atG>atA	p.M1I	TMEM202_ENST00000567679.1_Start_Codon_SNP_p.M1I	NM_001080462.1	NP_001073931.1	A6NGA9	TM202_HUMAN	transmembrane protein 202	1						integral component of membrane (GO:0016021)		p.M1I(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(4)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	18						CTGCCAAGATGGAGCGAAGGG	0.473																																						uc002auq.2																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)|skin(1)	2						c.(1-3)ATG>ATA		transmembrane protein 202							47.0	47.0	47.0					15																	72690670		2199	4297	6496	SO:0001582	initiator_codon_variant	338949					integral to membrane		g.chr15:72690670G>A		CCDS32287.1	15q24.1	2007-12-18				ENSG00000187806			33733	protein-coding gene	gene with protein product							Standard	NM_001080462		Approved	FLJ27523	uc002auq.3	A6NGA9		ENST00000341689.3:c.3G>A	15.37:g.72690670G>A	ENSP00000340212:p.Met1Ile					TMEM202_uc002aur.2_RNA	p.M1I	NM_001080462	NP_001073931	A6NGA9	TM202_HUMAN			1	3	+			1						Missense_Mutation	SNP	ENST00000341689.3	37	c.3G>A	CCDS32287.1	.	.	.	.	.	.	.	.	.	.	G	10.59	1.392326	0.25118	.	.	ENSG00000187806	ENST00000341689	T	0.50277	0.75	4.16	4.16	0.48862	.	0.583906	0.14537	U	0.313508	T	0.66036	0.2749	.	.	.	0.80722	D	1	D	0.61697	0.99	D	0.66351	0.943	T	0.68349	-0.5432	9	0.87932	D	0	0.0131	12.1497	0.54044	0.0:0.0:1.0:0.0	.	1	A6NGA9	TM202_HUMAN	I	1	ENSP00000340212:M1I	ENSP00000340212:M1I	M	+	3	0	TMEM202	70477724	1.000000	0.71417	1.000000	0.80357	0.115000	0.19883	2.252000	0.43196	2.296000	0.77279	0.467000	0.42956	ATG		PASS	0.473	TMEM202-003	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000435756.1	NM_001080462	Missense_Mutation	6	8	6	8	---	---	---	---
ISLR2	57611	broad.mit.edu	37	15	74426101	74426101	+	Missense_Mutation	SNP	G	G	C			TCGA-66-2756-01A-01D-1522-08	TCGA-66-2756-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	472c95e6-eccb-4988-be16-fdace73b2ed8	ff4f5936-f847-42ad-aedf-6a6a7fff6002	g.chr15:74426101G>C	ENST00000361742.3	+	4	1775	c.1006G>C	c.(1006-1008)Gca>Cca	p.A336P	ISLR2_ENST00000435464.1_Missense_Mutation_p.A336P|ISLR2_ENST00000453268.2_Missense_Mutation_p.A336P|ISLR2_ENST00000419208.1_Missense_Mutation_p.A336P|ISLR2_ENST00000445793.1_Missense_Mutation_p.A336P|ISLR2_ENST00000561975.1_Intron|ISLR2_ENST00000565159.1_Missense_Mutation_p.A336P|ISLR2_ENST00000565540.1_Missense_Mutation_p.A336P	NM_001130136.1|NM_020851.2	NP_001123608.1|NP_065902.1	Q6UXK2	ISLR2_HUMAN	immunoglobulin superfamily containing leucine-rich repeat 2	336	Ig-like.				positive regulation of axon extension (GO:0045773)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.A336P(1)		breast(3)|endometrium(6)|large_intestine(7)|lung(17)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	36						CCTGGCCCTCGCAAATGGCTC	0.642																																						uc002axd.2																			1	Substitution - Missense(1)		lung(1)		0						c.(1006-1008)GCA>CCA		immunoglobulin superfamily containing							21.0	22.0	22.0					15																	74426101		2198	4297	6495	SO:0001583	missense	57611				positive regulation of axon extension	cell surface|integral to membrane|plasma membrane		g.chr15:74426101G>C		CCDS10259.1	15q24.1	2013-01-11			ENSG00000167178	ENSG00000167178		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	29286	protein-coding gene	gene with protein product		614179				10819331, 12975309	Standard	NM_001130136		Approved	KIAA1465	uc010bjf.3	Q6UXK2	OTTHUMG00000137624	ENST00000361742.3:c.1006G>C	15.37:g.74426101G>C	ENSP00000355402:p.Ala336Pro					ISLR2_uc002axe.2_Missense_Mutation_p.A336P|ISLR2_uc010bjg.2_Missense_Mutation_p.A336P|ISLR2_uc010bjf.2_Missense_Mutation_p.A336P	p.A336P	NM_001130136	NP_001123608	Q6UXK2	ISLR2_HUMAN			4	1775	+			336			Ig-like.|Extracellular (Potential).		A8K352|Q9P263	Missense_Mutation	SNP	ENST00000361742.3	37	c.1006G>C	CCDS10259.1	.	.	.	.	.	.	.	.	.	.	G	5.584	0.292573	0.10567	.	.	ENSG00000167178	ENST00000445793;ENST00000361742;ENST00000435464;ENST00000453268;ENST00000419208	T;T;T;T;T	0.27402	1.67;1.67;1.67;1.67;1.67	4.7	0.893	0.19236	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.591333	0.16795	N	0.199204	T	0.11324	0.0276	N	0.11927	0.2	0.09310	N	1	P	0.41524	0.753	B	0.36244	0.22	T	0.10776	-1.0615	10	0.22109	T	0.4	.	1.9626	0.03389	0.3129:0.1302:0.4102:0.1467	.	336	Q6UXK2	ISLR2_HUMAN	P	336	ENSP00000403244:A336P;ENSP00000355402:A336P;ENSP00000411443:A336P;ENSP00000411834:A336P;ENSP00000408872:A336P	ENSP00000355402:A336P	A	+	1	0	ISLR2	72213154	0.000000	0.05858	0.022000	0.16811	0.534000	0.34807	0.182000	0.16900	0.290000	0.22444	0.195000	0.17529	GCA		PASS	0.642	ISLR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269046.1	NM_020851		6	4	6	4	---	---	---	---
BCL2A1	597	broad.mit.edu	37	15	80263171	80263171	+	Silent	SNP	A	A	G	rs566210172		TCGA-66-2756-01A-01D-1522-08	TCGA-66-2756-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	472c95e6-eccb-4988-be16-fdace73b2ed8	ff4f5936-f847-42ad-aedf-6a6a7fff6002	g.chr15:80263171A>G	ENST00000267953.3	-	1	617	c.291T>C	c.(289-291)ggT>ggC	p.G97G	BCL2A1_ENST00000335661.6_Silent_p.G97G	NM_004049.3	NP_004040.1	Q16548	B2LA1_HUMAN	BCL2-related protein A1	97					extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|negative regulation of apoptotic process (GO:0043066)|negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)	mitochondrial outer membrane (GO:0005741)	protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)	p.G97G(2)		endometrium(1)|kidney(2)|large_intestine(4)|lung(3)|pancreas(1)|upper_aerodigestive_tract(1)	12						TGATGAGAATACCTTCAAATG	0.388																																						uc002bfc.3																			2	Substitution - coding silent(2)		lung(2)	pancreas(1)	1						c.(289-291)GGT>GGC		BCL2-related protein A1 isoform 1							187.0	182.0	184.0					15																	80263171		2203	4300	6503	SO:0001819	synonymous_variant	597				anti-apoptosis|apoptosis	cytoplasm	protein binding	g.chr15:80263171A>G		CCDS10312.1, CCDS45322.1	15q24.3	2014-05-20			ENSG00000140379	ENSG00000140379			991	protein-coding gene	gene with protein product		601056		HBPA1		8589678, 12771180	Standard	NM_004049		Approved	GRS, BFL1, BCL2L5, ACC-1, ACC-2	uc002bfc.4	Q16548	OTTHUMG00000144173	ENST00000267953.3:c.291T>C	15.37:g.80263171A>G						BCL2A1_uc002bfd.3_Silent_p.G97G	p.G97G	NM_004049	NP_004040	Q16548	B2LA1_HUMAN			1	473	-			97			BH1.		Q6FGZ4|Q6FH19|Q86W13|Q99524	Silent	SNP	ENST00000267953.3	37	c.291T>C	CCDS10312.1																																																																																				PASS	0.388	BCL2A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000291372.1	NM_004049		130	87	130	87	---	---	---	---
KCTD5	54442	broad.mit.edu	37	16	2749842	2749842	+	Silent	SNP	C	C	T			TCGA-66-2756-01A-01D-1522-08	TCGA-66-2756-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	472c95e6-eccb-4988-be16-fdace73b2ed8	ff4f5936-f847-42ad-aedf-6a6a7fff6002	g.chr16:2749842C>T	ENST00000301738.4	+	4	548	c.474C>T	c.(472-474)taC>taT	p.Y158Y	KCTD5_ENST00000564195.1_Missense_Mutation_p.P128S	NM_018992.3	NP_061865.1	Q9NXV2	KCTD5_HUMAN	potassium channel tetramerization domain containing 5	158					protein homooligomerization (GO:0051260)|viral process (GO:0016032)	cytosol (GO:0005829)|nucleus (GO:0005634)	protein complex binding (GO:0032403)	p.Y158Y(1)		haematopoietic_and_lymphoid_tissue(1)|lung(1)	2						AGCATGTGTACCGTGTGCTGC	0.652																																					Ovarian(56;981 1456 4301 50892)	uc002crd.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(472-474)TAC>TAT		potassium channel tetramerisation domain							168.0	120.0	136.0					16																	2749842		2198	4300	6498	SO:0001819	synonymous_variant	54442				interspecies interaction between organisms	cytosol|nucleus|voltage-gated potassium channel complex	protein binding|voltage-gated potassium channel activity	g.chr16:2749842C>T	AK000047	CCDS10475.1	16p13.3	2013-06-20	2013-06-20		ENSG00000167977	ENSG00000167977			21423	protein-coding gene	gene with protein product		611285	"""potassium channel tetramerisation domain containing 5"""			12477932	Standard	NM_018992		Approved	FLJ20040	uc002crd.3	Q9NXV2	OTTHUMG00000128930	ENST00000301738.4:c.474C>T	16.37:g.2749842C>T							p.Y158Y	NM_018992	NP_061865	Q9NXV2	KCTD5_HUMAN			4	529	+			158					D3DU96	Silent	SNP	ENST00000301738.4	37	c.474C>T	CCDS10475.1																																																																																				PASS	0.652	KCTD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250909.2	NM_018992		42	61	42	61	---	---	---	---
METTL22	79091	broad.mit.edu	37	16	8722823	8722823	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2756-01A-01D-1522-08	TCGA-66-2756-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	472c95e6-eccb-4988-be16-fdace73b2ed8	ff4f5936-f847-42ad-aedf-6a6a7fff6002	g.chr16:8722823G>T	ENST00000381920.3	+	3	628	c.370G>T	c.(370-372)Gtg>Ttg	p.V124L	METTL22_ENST00000561758.1_Intron	NM_024109.2	NP_077014.2	Q9BUU2	MET22_HUMAN	methyltransferase like 22	124						nucleus (GO:0005634)	methyltransferase activity (GO:0008168)	p.V124L(1)		large_intestine(5)|lung(4)	9						GGATTTGGACGTGGTGAGAAG	0.567																																						uc002cyz.2																			1	Substitution - Missense(1)		lung(1)		0						c.(370-372)GTG>TTG		hypothetical protein LOC79091							84.0	94.0	91.0					16																	8722823		2004	4186	6190	SO:0001583	missense	79091						methyltransferase activity	g.chr16:8722823G>T	AK022495	CCDS10533.2	16p13.2	2014-07-15	2011-03-03	2011-03-03	ENSG00000067365	ENSG00000067365			28368	protein-coding gene	gene with protein product		615261	"""chromosome 16 open reading frame 68"""	C16orf68		24140279	Standard	XM_005255570		Approved	FLJ12433,MGC2654	uc002cyz.3	Q9BUU2	OTTHUMG00000129694	ENST00000381920.3:c.370G>T	16.37:g.8722823G>T	ENSP00000371345:p.Val124Leu					C16orf68_uc002cza.2_Intron	p.V124L	NM_024109	NP_077014	Q9BUU2	MET22_HUMAN			3	646	+			124					B2RD29|D3DUF2|Q6XYB4|Q9HA03	Missense_Mutation	SNP	ENST00000381920.3	37	c.370G>T	CCDS10533.2	.	.	.	.	.	.	.	.	.	.	G	20.9	4.066044	0.76187	.	.	ENSG00000067365	ENST00000381920;ENST00000163678	T;T	0.61274	2.04;0.12	5.43	4.46	0.54185	.	0.076827	0.52532	D	0.000068	T	0.70780	0.3263	M	0.71581	2.175	0.80722	D	1	D	0.76494	0.999	D	0.63957	0.92	T	0.74006	-0.3803	10	0.87932	D	0	-28.0816	11.6604	0.51343	0.0852:0.0:0.9148:0.0	.	124	Q9BUU2	MET22_HUMAN	L	124	ENSP00000371345:V124L;ENSP00000163678:V124L	ENSP00000163678:V124L	V	+	1	0	METTL22	8630324	1.000000	0.71417	0.999000	0.59377	0.568000	0.35870	5.519000	0.67074	2.545000	0.85829	0.561000	0.74099	GTG		PASS	0.567	METTL22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251901.1	NM_024109		75	67	75	67	---	---	---	---
GRIN2A	2903	broad.mit.edu	37	16	9857766	9857766	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2756-01A-01D-1522-08	TCGA-66-2756-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	472c95e6-eccb-4988-be16-fdace73b2ed8	ff4f5936-f847-42ad-aedf-6a6a7fff6002	g.chr16:9857766G>T	ENST00000396573.2	-	14	3944	c.3635C>A	c.(3634-3636)aCg>aAg	p.T1212K	GRIN2A_ENST00000562109.1_Missense_Mutation_p.T1212K|GRIN2A_ENST00000330684.3_Missense_Mutation_p.T1212K|GRIN2A_ENST00000396575.2_Missense_Mutation_p.T1212K|GRIN2A_ENST00000404927.2_Missense_Mutation_p.T1212K|GRIN2A_ENST00000535259.1_Missense_Mutation_p.T1055K	NM_000833.3	NP_000824.1	Q12879	NMDE1_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2A	1212					directional locomotion (GO:0033058)|dopamine metabolic process (GO:0042417)|glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|learning or memory (GO:0007611)|memory (GO:0007613)|negative regulation of protein catabolic process (GO:0042177)|neurogenesis (GO:0022008)|positive regulation of apoptotic process (GO:0043065)|protein localization (GO:0008104)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of sensory perception of pain (GO:0051930)|regulation of synaptic plasticity (GO:0048167)|response to amphetamine (GO:0001975)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to wounding (GO:0009611)|sensory perception of pain (GO:0019233)|serotonin metabolic process (GO:0042428)|sleep (GO:0030431)|startle response (GO:0001964)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)|visual learning (GO:0008542)	cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)|synaptic vesicle (GO:0008021)	calcium channel activity (GO:0005262)|extracellular-glutamate-gated ion channel activity (GO:0005234)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)|zinc ion binding (GO:0008270)	p.T1212K(1)		NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198					Acamprosate(DB00659)|Acetylcysteine(DB06151)|Atomoxetine(DB00289)|Felbamate(DB00949)|Gabapentin(DB00996)|Glycine(DB00145)|Halothane(DB01159)|Ketobemidone(DB06738)|Memantine(DB01043)|Milnacipran(DB04896)|Pentobarbital(DB00312)|Pethidine(DB00454)|Phenobarbital(DB01174)|Secobarbital(DB00418)	TCTGCAGTGCGTGGAGTTCTG	0.557																																						uc002czo.3																			1	Substitution - Missense(1)		lung(1)	skin(32)|NS(5)|ovary(4)|large_intestine(1)|lung(1)|breast(1)|kidney(1)	45						c.(3634-3636)ACG>AAG		N-methyl-D-aspartate receptor subunit 2A isoform	Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)						276.0	267.0	270.0					16																	9857766		2197	4300	6497	SO:0001583	missense	2903				response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding	g.chr16:9857766G>T		CCDS10539.1, CCDS45407.1	16p13.2	2012-08-29			ENSG00000183454	ENSG00000183454		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4585	protein-coding gene	gene with protein product		138253		NMDAR2A		9480759	Standard	XM_005255267		Approved	GluN2A	uc002czo.4	Q12879	OTTHUMG00000129721	ENST00000396573.2:c.3635C>A	16.37:g.9857766G>T	ENSP00000379818:p.Thr1212Lys					GRIN2A_uc010uym.1_Missense_Mutation_p.T1212K|GRIN2A_uc010uyn.1_Missense_Mutation_p.T1055K|GRIN2A_uc002czr.3_Missense_Mutation_p.T1212K	p.T1212K	NM_001134407	NP_001127879	Q12879	NMDE1_HUMAN			13	4183	-			1212			Cytoplasmic (Potential).		O00669|Q17RZ6	Missense_Mutation	SNP	ENST00000396573.2	37	c.3635C>A	CCDS10539.1	.	.	.	.	.	.	.	.	.	.	G	19.07	3.756483	0.69648	.	.	ENSG00000183454	ENST00000396573;ENST00000404927;ENST00000535259;ENST00000330684;ENST00000396575	T;T;T;T;T	0.12672	2.66;2.66;2.67;2.66;2.66	5.32	5.32	0.75619	Glutamate [NMDA] receptor, epsilon subunit, C-terminal (1);	0.091242	0.85682	D	0.000000	T	0.39600	0.1084	M	0.76002	2.32	0.80722	D	1	D;D;D	0.76494	0.977;0.982;0.999	D;D;D	0.85130	0.917;0.95;0.997	T	0.10847	-1.0612	9	.	.	.	.	17.9952	0.89181	0.0:0.0:1.0:0.0	.	1055;1212;1212	F5GZ52;Q17RZ6;Q12879	.;.;NMDE1_HUMAN	K	1212;1212;1055;1212;1212	ENSP00000379818:T1212K;ENSP00000385872:T1212K;ENSP00000441572:T1055K;ENSP00000332549:T1212K;ENSP00000379820:T1212K	.	T	-	2	0	GRIN2A	9765267	1.000000	0.71417	0.957000	0.39632	0.956000	0.61745	6.226000	0.72277	2.476000	0.83614	0.655000	0.94253	ACG		PASS	0.557	GRIN2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251930.3			184	206	184	206	---	---	---	---
ACSM3	6296	broad.mit.edu	37	16	20802007	20802007	+	Nonsense_Mutation	SNP	C	C	G	rs34381224	byFrequency	TCGA-66-2756-01A-01D-1522-08	TCGA-66-2756-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	472c95e6-eccb-4988-be16-fdace73b2ed8	ff4f5936-f847-42ad-aedf-6a6a7fff6002	g.chr16:20802007C>G	ENST00000289416.5	+	10	1798	c.1323C>G	c.(1321-1323)taC>taG	p.Y441*	ERI2_ENST00000300005.3_Intron|ACSM3_ENST00000567387.1_3'UTR|ACSM3_ENST00000450120.2_Nonsense_Mutation_p.Y433*	NM_005622.3	NP_005613.2	Q53FZ2	ACSM3_HUMAN	acyl-CoA synthetase medium-chain family member 3	441					cholesterol homeostasis (GO:0042632)|fatty acid biosynthetic process (GO:0006633)|regulation of blood pressure (GO:0008217)	mitochondrial matrix (GO:0005759)	ATP binding (GO:0005524)|butyrate-CoA ligase activity (GO:0047760)|fatty acid ligase activity (GO:0015645)|metal ion binding (GO:0046872)	p.Y441*(1)		breast(1)|endometrium(5)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)	21						TTACTCATTACGTAGTAAGTG	0.373													C|||	18	0.00359425	0.0008	0.0101	5008	,	,		18831	0.0		0.007	False		,,,				2504	0.0031					uc002dhr.2																			1	Substitution - Nonsense(1)		lung(1)	ovary(1)	1						c.(1321-1323)TAC>TAG		SA hypertension-associated homolog isoform 1		C	stop/TYR,	11,4391	17.9+/-39.9	0,11,2190	116.0	106.0	110.0		1323,	0.2	0.9	16	dbSNP_126	110	69,8531	41.7+/-99.0	1,67,4232	yes	stop-gained,intron	ACSM3,ERI2	NM_005622.3,NM_080663.2	,	1,78,6422	GG,GC,CC		0.8023,0.2499,0.6153	,	441/587,	20802007	80,12922	2201	4300	6501	SO:0001587	stop_gained	6296				regulation of blood pressure	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|metal ion binding	g.chr16:20802007C>G	D16350	CCDS10589.1, CCDS45435.1	16p13.11	2006-02-08	2005-09-08	2005-09-08	ENSG00000005187	ENSG00000005187		"""Acyl-CoA synthetase family"""	10522	protein-coding gene	gene with protein product		145505	"""SA (rat hypertension-associated) homolog"", ""SA hypertension-associated homolog (rat)"""	SAH		7843754, 7907320, 11470804	Standard	NM_005622		Approved	SA	uc002dhr.3	Q53FZ2	OTTHUMG00000131552	ENST00000289416.5:c.1323C>G	16.37:g.20802007C>G	ENSP00000289416:p.Tyr441*					ACSM3_uc010vba.1_Nonsense_Mutation_p.Y470*|ERI2_uc002dhs.2_Intron	p.Y441*	NM_005622	NP_005613	Q53FZ2	ACSM3_HUMAN			10	1510	+			441					O60363|Q13732|Q15425|Q7KYM6|Q9BUA2	Nonsense_Mutation	SNP	ENST00000289416.5	37	c.1323C>G	CCDS10589.1	8	0.003663003663003663	0	0.0	5	0.013812154696132596	0	0.0	3	0.00395778364116095	C	8.542	0.873414	0.17322	0.002499	0.008023	ENSG00000005187	ENST00000289416;ENST00000450120	.	.	.	5.11	0.217	0.15264	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.47476	D	0.999434	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-22.3753	10.9739	0.47454	0.0:0.4224:0.0:0.5776	rs34381224	.	.	.	X	441;433	.	ENSP00000289416:Y441X	Y	+	3	2	ACSM3	20709508	0.069000	0.21087	0.910000	0.35882	0.067000	0.16453	0.211000	0.17474	0.005000	0.14708	-0.295000	0.09555	TAC		PASS	0.373	ACSM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254414.2	NM_005622		55	125	55	125	---	---	---	---
GTF3C1	2975	broad.mit.edu	37	16	27509984	27509984	+	Missense_Mutation	SNP	C	C	A	rs370662691		TCGA-66-2756-01A-01D-1522-08	TCGA-66-2756-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	472c95e6-eccb-4988-be16-fdace73b2ed8	ff4f5936-f847-42ad-aedf-6a6a7fff6002	g.chr16:27509984C>A	ENST00000356183.4	-	13	2147	c.2132G>T	c.(2131-2133)cGc>cTc	p.R711L	GTF3C1_ENST00000561623.1_Missense_Mutation_p.R711L	NM_001520.3	NP_001511.2	Q12789	TF3C1_HUMAN	general transcription factor IIIC, polypeptide 1, alpha 220kDa	711					5S class rRNA transcription from RNA polymerase III type 1 promoter (GO:0042791)|gene expression (GO:0010467)|rRNA transcription (GO:0009303)|transcription from RNA polymerase III promoter (GO:0006383)|transcription, DNA-templated (GO:0006351)|tRNA transcription (GO:0009304)|tRNA transcription from RNA polymerase III promoter (GO:0042797)	membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|transcription factor TFIIIC complex (GO:0000127)	DNA binding (GO:0003677)	p.R711L(1)		breast(2)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|liver(3)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	80						GATCCGGAAGCGGACCTGCTC	0.582																																						uc002dov.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)|pancreas(1)|breast(1)|skin(1)	5						c.(2131-2133)CGC>CTC		general transcription factor IIIC, polypeptide							190.0	169.0	176.0					16																	27509984		2197	4300	6497	SO:0001583	missense	2975					transcription factor TFIIIC complex	DNA binding|protein binding	g.chr16:27509984C>A	U06485	CCDS32414.1, CCDS66988.1	16p12	2010-03-23	2002-08-29			ENSG00000077235		"""General transcription factors"""	4664	protein-coding gene	gene with protein product		603246	"""general transcription factor IIIC, polypeptide 1 (alpha subunit, 220kD )"""			8164661, 8127861	Standard	NM_001520		Approved	TFIIIC220	uc002dov.2	Q12789		ENST00000356183.4:c.2132G>T	16.37:g.27509984C>A	ENSP00000348510:p.Arg711Leu					GTF3C1_uc002dou.2_Missense_Mutation_p.R711L	p.R711L	NM_001520	NP_001511	Q12789	TF3C1_HUMAN			13	2172	-			711					B2RP21|Q12838|Q6DKN9|Q9Y4W9	Missense_Mutation	SNP	ENST00000356183.4	37	c.2132G>T	CCDS32414.1	.	.	.	.	.	.	.	.	.	.	C	33	5.201514	0.94997	.	.	ENSG00000077235	ENST00000356183;ENST00000388971	T	0.27720	1.65	5.3	5.3	0.74995	.	0.000000	0.85682	D	0.000000	T	0.58380	0.2118	M	0.76574	2.34	0.58432	D	0.999997	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.62134	-0.6918	10	0.72032	D	0.01	-22.4169	18.584	0.91182	0.0:1.0:0.0:0.0	.	711;711	Q12789;Q12789-3	TF3C1_HUMAN;.	L	711;709	ENSP00000348510:R711L	ENSP00000348510:R711L	R	-	2	0	GTF3C1	27417485	1.000000	0.71417	0.938000	0.37757	0.996000	0.88848	7.336000	0.79245	2.478000	0.83669	0.563000	0.77884	CGC		PASS	0.582	GTF3C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433856.1	NM_001520		118	137	118	137	---	---	---	---
KIAA0556	23247	broad.mit.edu	37	16	27752197	27752197	+	Missense_Mutation	SNP	A	A	C			TCGA-66-2756-01A-01D-1522-08	TCGA-66-2756-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	472c95e6-eccb-4988-be16-fdace73b2ed8	ff4f5936-f847-42ad-aedf-6a6a7fff6002	g.chr16:27752197A>C	ENST00000261588.4	+	15	2598	c.2579A>C	c.(2578-2580)gAt>gCt	p.D860A		NM_015202.2	NP_056017.2	O60303	K0556_HUMAN	KIAA0556	860						extracellular space (GO:0005615)|nucleus (GO:0005634)|plasma membrane (GO:0005886)		p.D860A(2)		breast(4)|endometrium(7)|kidney(8)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	76						TCAAGGAAGGATGCTGGCAGC	0.582																																						uc002dow.2																			2	Substitution - Missense(2)		lung(2)	ovary(4)|large_intestine(2)|upper_aerodigestive_tract(1)|skin(1)	8						c.(2578-2580)GAT>GCT		hypothetical protein LOC23247							34.0	31.0	32.0					16																	27752197		2197	4300	6497	SO:0001583	missense	23247							g.chr16:27752197A>C	AB011128	CCDS32415.1	16p12.1-p11.2	2012-11-30			ENSG00000047578	ENSG00000047578			29068	protein-coding gene	gene with protein product						9628581	Standard	NM_015202		Approved		uc002dow.3	O60303	OTTHUMG00000176780	ENST00000261588.4:c.2579A>C	16.37:g.27752197A>C	ENSP00000261588:p.Asp860Ala						p.D860A	NM_015202	NP_056017	O60303	K0556_HUMAN			15	2603	+			860					A7E2C2	Missense_Mutation	SNP	ENST00000261588.4	37	c.2579A>C	CCDS32415.1	.	.	.	.	.	.	.	.	.	.	A	8.263	0.811617	0.16537	.	.	ENSG00000047578	ENST00000261588	T	0.09255	3.0	5.15	4.06	0.47325	.	0.358226	0.30293	N	0.009956	T	0.08179	0.0204	L	0.40543	1.245	0.23003	N	0.998448	B	0.28933	0.228	B	0.30855	0.121	T	0.36335	-0.9752	10	0.09843	T	0.71	-9.9124	7.5463	0.27768	0.8296:0.0:0.1704:0.0	.	860	O60303	K0556_HUMAN	A	860	ENSP00000261588:D860A	ENSP00000261588:D860A	D	+	2	0	KIAA0556	27659698	0.991000	0.36638	0.719000	0.30619	0.486000	0.33341	2.927000	0.48900	0.812000	0.34326	0.459000	0.35465	GAT		PASS	0.582	KIAA0556-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433724.1	NM_015202		3	11	3	11	---	---	---	---
SRCAP	10847	broad.mit.edu	37	16	30719027	30719027	+	Silent	SNP	G	G	T			TCGA-66-2756-01A-01D-1522-08	TCGA-66-2756-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	472c95e6-eccb-4988-be16-fdace73b2ed8	ff4f5936-f847-42ad-aedf-6a6a7fff6002	g.chr16:30719027G>T	ENST00000262518.4	+	6	1012	c.627G>T	c.(625-627)gtG>gtT	p.V209V	SNORA30_ENST00000384028.1_RNA|SRCAP_ENST00000395059.2_Silent_p.V209V|SRCAP_ENST00000344771.4_Silent_p.V209V	NM_006662.2	NP_006653.2	Q6ZRS2	SRCAP_HUMAN	Snf2-related CREBBP activator protein	209					histone acetylation (GO:0016573)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|protein complex (GO:0043234)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|histone acetyltransferase activity (GO:0004402)|transcription coactivator activity (GO:0003713)	p.V209V(1)		NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	136			Colorectal(24;0.198)			GGAGCAATGTGGAGAAGGTAG	0.522																																						uc002dze.1																			1	Substitution - coding silent(1)		lung(1)	ovary(3)|skin(1)	4						c.(625-627)GTG>GTT		Snf2-related CBP activator protein							159.0	110.0	127.0					16																	30719027		2197	4300	6497	SO:0001819	synonymous_variant	10847				interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|nucleus|protein complex	ATP binding|DNA binding|helicase activity|histone acetyltransferase activity|transcription coactivator activity	g.chr16:30719027G>T	AB002307	CCDS10689.2	16p11.2	2009-08-06			ENSG00000080603	ENSG00000080603			16974	protein-coding gene	gene with protein product	"""Swi2/Snf2-related ATPase homolog (S. cerevisiae)"", ""domino homolog 1 (Drosophila)"""	611421				10347196, 9205841	Standard	NM_006662		Approved	KIAA0309, EAF1, SWR1, DOMO1	uc002dze.1	Q6ZRS2	OTTHUMG00000132393	ENST00000262518.4:c.627G>T	16.37:g.30719027G>T						SRCAP_uc002dzf.2_RNA|SRCAP_uc002dzg.1_Silent_p.V66V|SRCAP_uc010bzz.1_5'Flank|SNORA30_uc002dzh.1_5'Flank	p.V209V	NM_006662	NP_006653	Q6ZRS2	SRCAP_HUMAN	Colorectal(24;0.198)		6	1012	+			209					B0JZA6|O15026|Q7Z744|Q9Y5L9	Silent	SNP	ENST00000262518.4	37	c.627G>T	CCDS10689.2																																																																																				PASS	0.522	SRCAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255523.1	NM_006662		26	35	26	35	---	---	---	---
ITGAM	3684	broad.mit.edu	37	16	31309148	31309148	+	Missense_Mutation	SNP	T	T	A			TCGA-66-2756-01A-01D-1522-08	TCGA-66-2756-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	472c95e6-eccb-4988-be16-fdace73b2ed8	ff4f5936-f847-42ad-aedf-6a6a7fff6002	g.chr16:31309148T>A	ENST00000287497.8	+	14	1655	c.1580T>A	c.(1579-1581)cTg>cAg	p.L527Q	ITGAM_ENST00000544665.3_Missense_Mutation_p.L528Q			P11215	ITAM_HUMAN	integrin, alpha M (complement component 3 receptor 3 subunit)	527					activated T cell proliferation (GO:0050798)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cellular extravasation (GO:0045123)|ectodermal cell differentiation (GO:0010668)|extracellular matrix organization (GO:0030198)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|leukocyte migration involved in inflammatory response (GO:0002523)|microglia development (GO:0014005)|neutrophil chemotaxis (GO:0030593)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)	cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integrin complex (GO:0008305)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	glycoprotein binding (GO:0001948)|heparin binding (GO:0008201)|metal ion binding (GO:0046872)	p.L527Q(1)		endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(1)|prostate(4)|skin(1)	56						CTAACAGTGCTGGGGGACGTA	0.607																																						uc002ebq.2																			1	Substitution - Missense(1)		lung(1)	kidney(1)	1						c.(1579-1581)CTG>CAG		integrin alpha M isoform 2 precursor							72.0	77.0	75.0					16																	31309148		2184	4291	6475	SO:0001583	missense	3684				blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration	integrin complex	glycoprotein binding|receptor activity	g.chr16:31309148T>A	J03925	CCDS45470.1, CCDS54004.1	16p11.2	2010-03-23	2006-02-10			ENSG00000169896		"""CD molecules"", ""Complement system"", ""Integrins"""	6149	protein-coding gene	gene with protein product		120980	"""integrin, alpha M (complement component receptor 3, alpha; also known as CD11b (p170), macrophage antigen alpha polypeptide)"""	CR3A, CD11B			Standard	NM_001145808		Approved	MAC-1, CD11b	uc002ebr.3	P11215		ENST00000287497.8:c.1580T>A	16.37:g.31309148T>A	ENSP00000287497:p.Leu527Gln					ITGAM_uc002ebr.2_Missense_Mutation_p.L528Q|ITGAM_uc010cam.1_Intron|ITGAM_uc010can.2_Intron	p.L527Q	NM_000632	NP_000623	P11215	ITAM_HUMAN			14	1678	+			527			FG-GAP 6.|Extracellular (Potential).		Q4VAK0|Q4VAK1|Q4VAK2	Missense_Mutation	SNP	ENST00000287497.8	37	c.1580T>A	CCDS45470.1	.	.	.	.	.	.	.	.	.	.	T	19.57	3.851606	0.71719	.	.	ENSG00000169896	ENST00000544665;ENST00000287497	T;T	0.68025	-0.3;-0.3	3.76	3.76	0.43208	.	.	.	.	.	D	0.85767	0.5773	H	0.96777	3.88	0.37604	D	0.920697	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.89387	0.3686	9	0.87932	D	0	.	9.0701	0.36486	0.0:0.0:0.0:1.0	.	527;527	Q4VAK1;P11215	.;ITAM_HUMAN	Q	528;527	ENSP00000441691:L528Q;ENSP00000287497:L527Q	ENSP00000287497:L527Q	L	+	2	0	ITGAM	31216649	1.000000	0.71417	1.000000	0.80357	0.913000	0.54294	5.960000	0.70348	1.700000	0.51204	0.533000	0.62120	CTG		PASS	0.607	ITGAM-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000432816.1	NM_000632		18	55	18	55	---	---	---	---
VPS35	55737	broad.mit.edu	37	16	46714640	46714640	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2756-01A-01D-1522-08	TCGA-66-2756-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	472c95e6-eccb-4988-be16-fdace73b2ed8	ff4f5936-f847-42ad-aedf-6a6a7fff6002	g.chr16:46714640C>T	ENST00000299138.7	-	5	507	c.449G>A	c.(448-450)cGa>cAa	p.R150Q	VPS35_ENST00000568642.1_5'Flank	NM_018206.4	NP_060676.2	Q96QK1	VPS35_HUMAN	vacuolar protein sorting 35 homolog (S. cerevisiae)	150					cell death (GO:0008219)|protein transport (GO:0015031)|retrograde transport, endosome to Golgi (GO:0042147)	cytosol (GO:0005829)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)|retromer complex (GO:0030904)		p.R150Q(1)		breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(11)|pancreas(1)|prostate(1)|urinary_tract(1)	23		all_cancers(37;7.65e-05)|all_epithelial(9;0.000154)|all_lung(18;0.00585)|Lung NSC(13;0.0496)|Breast(268;0.116)				AAGGTAATTTCGAAGAAACAG	0.378																																						uc002eef.3																			1	Substitution - Missense(1)		lung(1)		0						c.(448-450)CGA>CAA		vacuolar protein sorting 35							60.0	57.0	58.0					16																	46714640		2203	4299	6502	SO:0001583	missense	55737				protein transport|retrograde transport, endosome to Golgi	cytosol|endosome|membrane	protein binding	g.chr16:46714640C>T	AF175265	CCDS10721.1	16q12	2012-06-27	2006-12-19		ENSG00000069329	ENSG00000069329		"""Parkinson disease"""	13487	protein-coding gene	gene with protein product		601501	"""vacuolar protein sorting 35 (yeast homolog)"", ""vacuolar protein sorting 35 (yeast)"""			11112353, 21763482	Standard	NM_018206		Approved	FLJ10752, MEM3, PARK17	uc002eef.4	Q96QK1	OTTHUMG00000132542	ENST00000299138.7:c.449G>A	16.37:g.46714640C>T	ENSP00000299138:p.Arg150Gln					VPS35_uc002eed.2_5'Flank|VPS35_uc002eee.2_Missense_Mutation_p.R111Q	p.R150Q	NM_018206	NP_060676	Q96QK1	VPS35_HUMAN			5	548	-		all_cancers(37;7.65e-05)|all_epithelial(9;0.000154)|all_lung(18;0.00585)|Lung NSC(13;0.0496)|Breast(268;0.116)	150					Q561W2|Q9H016|Q9H096|Q9H4P3|Q9H8J0|Q9NRS7|Q9NVG2|Q9NX80|Q9NZK2	Missense_Mutation	SNP	ENST00000299138.7	37	c.449G>A	CCDS10721.1	.	.	.	.	.	.	.	.	.	.	.	36	5.830499	0.96996	.	.	ENSG00000069329	ENST00000299138;ENST00000541330	T	0.71103	-0.54	5.36	5.36	0.76844	.	0.000000	0.85682	D	0.000000	D	0.89491	0.6730	H	0.95187	3.635	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.92252	0.5809	10	0.87932	D	0	-9.3394	19.4427	0.94827	0.0:1.0:0.0:0.0	.	150	Q96QK1	VPS35_HUMAN	Q	150;15	ENSP00000299138:R150Q	ENSP00000299138:R150Q	R	-	2	0	VPS35	45272141	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.770000	0.85390	2.649000	0.89929	0.563000	0.77884	CGA		PASS	0.378	VPS35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255742.3			25	85	25	85	---	---	---	---
ABCC12	94160	broad.mit.edu	37	16	48138185	48138185	+	Missense_Mutation	SNP	A	A	T			TCGA-66-2756-01A-01D-1522-08	TCGA-66-2756-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	472c95e6-eccb-4988-be16-fdace73b2ed8	ff4f5936-f847-42ad-aedf-6a6a7fff6002	g.chr16:48138185A>T	ENST00000311303.3	-	20	3113	c.2768T>A	c.(2767-2769)cTg>cAg	p.L923Q	ABCC12_ENST00000416054.1_3'UTR|ABCC12_ENST00000448542.1_Intron	NM_033226.2	NP_150229.2	Q96J65	MRP9_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 12	923	ABC transmembrane type-1 2. {ECO:0000255|PROSITE-ProRule:PRU00441}.					integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)	p.L923Q(1)		NS(1)|breast(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|liver(1)|lung(43)|ovary(2)|prostate(3)|skin(7)|urinary_tract(1)	90		all_cancers(37;0.0474)|all_lung(18;0.047)				GTGAAACGGCAGCCTCACATC	0.483																																						uc002efc.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(1)	3						c.(2767-2769)CTG>CAG		ATP-binding cassette protein C12							173.0	161.0	165.0					16																	48138185		2201	4300	6501	SO:0001583	missense	94160					integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr16:48138185A>T	AY040220	CCDS10730.1	16q12.1	2012-03-14			ENSG00000140798	ENSG00000140798		"""ATP binding cassette transporters / subfamily C"""	14640	protein-coding gene	gene with protein product		607041				11435397, 11483364	Standard	NM_033226		Approved	MRP9	uc002efc.1	Q96J65	OTTHUMG00000133143	ENST00000311303.3:c.2768T>A	16.37:g.48138185A>T	ENSP00000311030:p.Leu923Gln					ABCC12_uc002eey.1_RNA|ABCC12_uc002eez.1_RNA|ABCC12_uc002efa.1_RNA|ABCC12_uc002efb.1_Intron|ABCC12_uc002efd.1_RNA	p.L923Q	NM_033226	NP_150229	Q96J65	MRP9_HUMAN			20	3114	-		all_cancers(37;0.0474)|all_lung(18;0.047)	923			ABC transmembrane type-1 2.		Q49AL2|Q8TAF0|Q8TEY2	Missense_Mutation	SNP	ENST00000311303.3	37	c.2768T>A	CCDS10730.1	.	.	.	.	.	.	.	.	.	.	A	23.8	4.461935	0.84425	.	.	ENSG00000140798	ENST00000311303;ENST00000449939	D	0.91945	-2.94	5.55	5.55	0.83447	ABC transporter, transmembrane domain, type 1 (1);ABC transporter, integral membrane type 1 (1);ABC transporter, transmembrane domain (1);	0.072732	0.53938	D	0.000042	D	0.96778	0.8948	M	0.92555	3.32	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.97546	1.0089	10	0.87932	D	0	.	13.2222	0.59894	1.0:0.0:0.0:0.0	.	923	Q96J65	MRP9_HUMAN	Q	923;841	ENSP00000311030:L923Q	ENSP00000311030:L923Q	L	-	2	0	ABCC12	46695686	1.000000	0.71417	1.000000	0.80357	0.948000	0.59901	8.191000	0.89716	2.097000	0.63578	0.533000	0.62120	CTG		PASS	0.483	ABCC12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256837.1	NM_033226		82	77	82	77	---	---	---	---
N4BP1	9683	broad.mit.edu	37	16	48594716	48594716	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2756-01A-01D-1522-08	TCGA-66-2756-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	472c95e6-eccb-4988-be16-fdace73b2ed8	ff4f5936-f847-42ad-aedf-6a6a7fff6002	g.chr16:48594716C>T	ENST00000262384.3	-	2	2074	c.1838G>A	c.(1837-1839)gGg>gAg	p.G613E	RP11-44I10.3_ENST00000563994.1_RNA	NM_153029.3	NP_694574.3	O75113	N4BP1_HUMAN	NEDD4 binding protein 1	613					cellular response to UV (GO:0034644)|negative regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032435)|negative regulation of protein ubiquitination (GO:0031397)	nucleolus (GO:0005730)|PML body (GO:0016605)		p.G613E(1)|p.G660E(1)		breast(3)|kidney(2)|lung(11)|urinary_tract(1)	17		all_cancers(37;0.179)|all_lung(18;0.11)				ATCCGTTCTCCCTGGTTCATT	0.368																																						uc002efp.2																			2	Substitution - Missense(2)		lung(2)		0						c.(1837-1839)GGG>GAG		Nedd4 binding protein 1							128.0	124.0	125.0					16																	48594716		1834	4091	5925	SO:0001583	missense	9683				negative regulation of proteasomal ubiquitin-dependent protein catabolic process|negative regulation of protein ubiquitination	nucleolus|PML body		g.chr16:48594716C>T	AK026937	CCDS45479.1	16q12.1	2008-01-18				ENSG00000102921			29850	protein-coding gene	gene with protein product						9734811, 11717310	Standard	NM_153029		Approved		uc002efp.3	O75113		ENST00000262384.3:c.1838G>A	16.37:g.48594716C>T	ENSP00000262384:p.Gly613Glu						p.G613E	NM_153029	NP_694574	O75113	N4BP1_HUMAN			2	2075	-		all_cancers(37;0.179)|all_lung(18;0.11)	613					A7MD49|Q2YDX1	Missense_Mutation	SNP	ENST00000262384.3	37	c.1838G>A	CCDS45479.1	.	.	.	.	.	.	.	.	.	.	C	23.0	4.360820	0.82353	.	.	ENSG00000102921	ENST00000262384	T	0.54071	0.59	5.93	5.93	0.95920	.	0.000000	0.85682	D	0.000000	T	0.52565	0.1742	L	0.45352	1.415	0.80722	D	1	B	0.32526	0.374	B	0.35550	0.205	T	0.52601	-0.8554	10	0.66056	D	0.02	-13.4523	20.3495	0.98807	0.0:1.0:0.0:0.0	.	613	O75113	N4BP1_HUMAN	E	613	ENSP00000262384:G613E	ENSP00000262384:G613E	G	-	2	0	N4BP1	47152217	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	6.957000	0.76019	2.814000	0.96858	0.591000	0.81541	GGG		PASS	0.368	N4BP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000429920.1	NM_014664		58	256	58	256	---	---	---	---
C16orf78	123970	broad.mit.edu	37	16	49433126	49433126	+	Silent	SNP	C	C	T			TCGA-66-2756-01A-01D-1522-08	TCGA-66-2756-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	472c95e6-eccb-4988-be16-fdace73b2ed8	ff4f5936-f847-42ad-aedf-6a6a7fff6002	g.chr16:49433126C>T	ENST00000299191.3	+	5	852	c.735C>T	c.(733-735)caC>caT	p.H245H		NM_144602.2	NP_653203.1	Q8WTQ4	CP078_HUMAN	chromosome 16 open reading frame 78	245						nucleus (GO:0005634)		p.H245H(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|upper_aerodigestive_tract(1)	22						TCCACCCCCACATGGTCGAAG	0.498																																						uc002efr.2																			1	Substitution - coding silent(1)		lung(1)	central_nervous_system(1)	1						c.(733-735)CAC>CAT		hypothetical protein LOC123970							144.0	118.0	127.0					16																	49433126		2199	4300	6499	SO:0001819	synonymous_variant	123970							g.chr16:49433126C>T	BC021181	CCDS10738.1	16q12.1	2008-02-05			ENSG00000166152	ENSG00000166152			28479	protein-coding gene	gene with protein product						12477932	Standard	NM_144602		Approved	MGC33367	uc002efr.3	Q8WTQ4	OTTHUMG00000133149	ENST00000299191.3:c.735C>T	16.37:g.49433126C>T							p.H245H	NM_144602	NP_653203	Q8WTQ4	CP078_HUMAN			5	778	+			245						Silent	SNP	ENST00000299191.3	37	c.735C>T	CCDS10738.1																																																																																				PASS	0.498	C16orf78-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256846.1	NM_144602		32	112	32	112	---	---	---	---
FTO	79068	broad.mit.edu	37	16	53913764	53913764	+	Silent	SNP	A	A	G			TCGA-66-2756-01A-01D-1522-08	TCGA-66-2756-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	472c95e6-eccb-4988-be16-fdace73b2ed8	ff4f5936-f847-42ad-aedf-6a6a7fff6002	g.chr16:53913764A>G	ENST00000471389.1	+	6	1206	c.984A>G	c.(982-984)acA>acG	p.T328T	FTO_ENST00000394647.3_Silent_p.T32T	NM_001080432.2	NP_001073901.1	Q9C0B1	FTO_HUMAN	fat mass and obesity associated	328					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.T328T(1)		endometrium(1)|kidney(2)|large_intestine(7)|lung(13)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	29						AGTGCTCAACAGGAACCTTGG	0.423																																						uc002ehr.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(982-984)ACA>ACG		fat mass and obesity associated							173.0	161.0	165.0					16																	53913764		2198	4300	6498	SO:0001819	synonymous_variant	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.chr16:53913764A>G	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.984A>G	16.37:g.53913764A>G						FTO_uc010vha.1_Silent_p.T32T	p.T328T	NM_001080432	NP_001073901	Q9C0B1	FTO_HUMAN			6	1206	+			328					A2RUH1|B2RNS0|Q0P676|Q7Z785	Silent	SNP	ENST00000471389.1	37	c.984A>G	CCDS32448.1																																																																																				PASS	0.423	FTO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352196.1	NM_001080432		142	100	142	100	---	---	---	---
CDH11	1009	broad.mit.edu	37	16	65038625	65038625	+	Missense_Mutation	SNP	G	G	A			TCGA-66-2756-01A-01D-1522-08	TCGA-66-2756-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	472c95e6-eccb-4988-be16-fdace73b2ed8	ff4f5936-f847-42ad-aedf-6a6a7fff6002	g.chr16:65038625G>A	ENST00000268603.4	-	3	763	c.148C>T	c.(148-150)Cgc>Tgc	p.R50C	CDH11_ENST00000569624.1_5'UTR|CDH11_ENST00000394156.3_Missense_Mutation_p.R50C|CDH11_ENST00000566827.1_Intron	NM_001797.2	NP_001788.2	P55287	CAD11_HUMAN	cadherin 11, type 2, OB-cadherin (osteoblast)	50					adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|corticospinal tract morphogenesis (GO:0021957)|homophilic cell adhesion (GO:0007156)|ossification (GO:0001503)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.R50C(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(19)|lung(40)|ovary(3)|prostate(3)|skin(2)|urinary_tract(2)	88		Ovarian(137;0.0973)		OV - Ovarian serous cystadenocarcinoma(108;0.205)		CGCTTGGAGCGCTGTAGCACC	0.647			T	USP6	aneurysmal bone cysts					TSP Lung(24;0.17)																												uc002eoi.2				Dom	yes		16	16q22.1	1009	T	"""cadherin 11, type 2, OB-cadherin (osteoblast)"""			M	USP6		aneurysmal bone cysts		1	Substitution - Missense(1)		lung(1)	lung(10)|ovary(3)|skin(1)	14						c.(148-150)CGC>TGC		cadherin 11, type 2 preproprotein							54.0	44.0	47.0					16																	65038625		2202	4300	6502	SO:0001583	missense	1009				adherens junction organization|cell junction assembly|homophilic cell adhesion|ossification|skeletal system development	integral to membrane|plasma membrane	calcium ion binding|protein binding	g.chr16:65038625G>A	D21255	CCDS10803.1	16q21	2010-01-26			ENSG00000140937	ENSG00000140937		"""Cadherins / Major cadherins"""	1750	protein-coding gene	gene with protein product	"""OB-Cadherin"""	600023				9615235	Standard	NM_001797		Approved	OB, CAD11	uc002eoi.3	P55287	OTTHUMG00000137494	ENST00000268603.4:c.148C>T	16.37:g.65038625G>A	ENSP00000268603:p.Arg50Cys	TSP Lung(24;0.17)				CDH11_uc010cdn.2_RNA|CDH11_uc002eoj.2_Missense_Mutation_p.R50C|CDH11_uc010vin.1_Intron|CDH11_uc010vio.1_Missense_Mutation_p.R50C	p.R50C	NM_001797	NP_001788	P55287	CAD11_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.205)	3	582	-		Ovarian(137;0.0973)	50					A8K5D6|A8MZC8|B7WP28|Q15065|Q15066|Q9UQ93|Q9UQ94	Missense_Mutation	SNP	ENST00000268603.4	37	c.148C>T	CCDS10803.1	.	.	.	.	.	.	.	.	.	.	G	22.0	4.232377	0.79688	.	.	ENSG00000140937	ENST00000268603;ENST00000394156;ENST00000536902	T;T	0.00587	6.38;6.38	5.62	5.62	0.85841	.	0.000000	0.85682	D	0.000000	T	0.02156	0.0067	L	0.58810	1.83	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.998;1.0	T	0.59883	-0.7370	10	0.87932	D	0	.	13.5901	0.61955	0.0:0.0:0.8449:0.1551	.	50;50	P55287-2;P55287	.;CAD11_HUMAN	C	50	ENSP00000268603:R50C;ENSP00000377711:R50C	ENSP00000268603:R50C	R	-	1	0	CDH11	63596126	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.709000	0.54853	2.662000	0.90505	0.591000	0.81541	CGC		PASS	0.647	CDH11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268755.1	NM_033664		3	26	3	26	---	---	---	---
LCAT	3931	broad.mit.edu	37	16	67976608	67976608	+	Silent	SNP	C	C	T	rs371551788		TCGA-66-2756-01A-01D-1522-08	TCGA-66-2756-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	472c95e6-eccb-4988-be16-fdace73b2ed8	ff4f5936-f847-42ad-aedf-6a6a7fff6002	g.chr16:67976608C>T	ENST00000264005.5	-	4	518	c.489G>A	c.(487-489)gtG>gtA	p.V163V	CTC-479C5.17_ENST00000590594.1_lincRNA	NM_000229.1	NP_000220.1	P04180	LCAT_HUMAN	lecithin-cholesterol acyltransferase	163					cholesterol esterification (GO:0034435)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|cholesterol transport (GO:0030301)|high-density lipoprotein particle remodeling (GO:0034375)|lipoprotein biosynthetic process (GO:0042158)|lipoprotein metabolic process (GO:0042157)|phosphatidylcholine biosynthetic process (GO:0006656)|phospholipid metabolic process (GO:0006644)|regulation of high-density lipoprotein particle assembly (GO:0090107)|reverse cholesterol transport (GO:0043691)|small molecule metabolic process (GO:0044281)|very-low-density lipoprotein particle remodeling (GO:0034372)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|high-density lipoprotein particle (GO:0034364)	apolipoprotein A-I binding (GO:0034186)|phosphatidylcholine-sterol O-acyltransferase activity (GO:0004607)	p.V163V(1)		cervix(4)|endometrium(4)|large_intestine(1)|lung(6)|ovary(1)	16		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00418)|Epithelial(162;0.0183)|all cancers(182;0.12)		GGGCGGCGCGCACAGTCTCGT	0.687																																						uc002euy.1																			1	Substitution - coding silent(1)		lung(1)		0	GRCh37	CD992520	LCAT	D		c.(487-489)GTG>GTA		lecithin-cholesterol acyltransferase precursor							61.0	68.0	66.0					16																	67976608		2195	4292	6487	SO:0001819	synonymous_variant	3931				cholesterol esterification|cholesterol homeostasis|cholesterol metabolic process|high-density lipoprotein particle remodeling|phosphatidylcholine biosynthetic process|reverse cholesterol transport|very-low-density lipoprotein particle remodeling	high-density lipoprotein particle	apolipoprotein A-I binding|phosphatidylcholine-sterol O-acyltransferase activity	g.chr16:67976608C>T		CCDS10854.1	16q22.1	2012-10-02			ENSG00000213398	ENSG00000213398	2.3.1.43		6522	protein-coding gene	gene with protein product		606967					Standard	NM_000229		Approved		uc002euy.1	P04180	OTTHUMG00000137551	ENST00000264005.5:c.489G>A	16.37:g.67976608C>T							p.V163V	NM_000229	NP_000220	P04180	LCAT_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.00418)|Epithelial(162;0.0183)|all cancers(182;0.12)	4	500	-		Ovarian(137;0.0563)	163					Q53XQ3	Silent	SNP	ENST00000264005.5	37	c.489G>A	CCDS10854.1																																																																																				PASS	0.687	LCAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268885.3			13	145	13	145	---	---	---	---
DHX38	9785	broad.mit.edu	37	16	72142741	72142741	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2756-01A-01D-1522-08	TCGA-66-2756-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	472c95e6-eccb-4988-be16-fdace73b2ed8	ff4f5936-f847-42ad-aedf-6a6a7fff6002	g.chr16:72142741C>T	ENST00000268482.3	+	24	3807	c.3298C>T	c.(3298-3300)Cac>Tac	p.H1100Y	DHX38_ENST00000536867.1_Missense_Mutation_p.H412Y	NM_014003.3	NP_054722.2	Q92620	PRP16_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 38	1100					gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA export from nucleus (GO:0006406)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	catalytic step 2 spliceosome (GO:0071013)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)	p.H1100Y(1)		endometrium(5)|kidney(1)|large_intestine(16)|lung(15)|pancreas(1)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	48		Ovarian(137;0.125)				GATGCCCTGCCACTTGCACCC	0.542																																					Melanoma(97;711 1442 7855 13832 28836)	uc002fcb.2																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(3298-3300)CAC>TAC		DEAH (Asp-Glu-Ala-His) box polypeptide 38							83.0	64.0	71.0					16																	72142741		2198	4300	6498	SO:0001583	missense	9785				mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	catalytic step 2 spliceosome|nucleoplasm	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding	g.chr16:72142741C>T	AF038391	CCDS10907.1	16q22	2008-02-05	2003-06-13	2003-06-20	ENSG00000140829	ENSG00000140829		"""DEAH-boxes"""	17211	protein-coding gene	gene with protein product		605584	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 38"""	DDX38		9524131, 9039502	Standard	NM_014003		Approved	PRP16, KIAA0224, hPrp16, PRPF16	uc002fcb.3	Q92620	OTTHUMG00000137596	ENST00000268482.3:c.3298C>T	16.37:g.72142741C>T	ENSP00000268482:p.His1100Tyr					DHX38_uc010vmp.1_Missense_Mutation_p.H412Y	p.H1100Y	NM_014003	NP_054722	Q92620	PRP16_HUMAN			24	3653	+		Ovarian(137;0.125)	1100					B4DVG8|D3DWS7|O75212|Q96HN7	Missense_Mutation	SNP	ENST00000268482.3	37	c.3298C>T	CCDS10907.1	.	.	.	.	.	.	.	.	.	.	C	14.79	2.640931	0.47153	.	.	ENSG00000140829	ENST00000268482;ENST00000536867	T;T	0.02606	4.23;4.23	5.14	5.14	0.70334	Domain of unknown function DUF1605 (1);	0.000000	0.85682	D	0.000000	T	0.03477	0.0100	L	0.33710	1.025	0.80722	D	1	B;B	0.31640	0.118;0.333	B;B	0.34722	0.188;0.085	T	0.46803	-0.9165	10	0.06757	T	0.87	.	18.8078	0.92045	0.0:1.0:0.0:0.0	.	412;1100	B4DVG8;Q92620	.;PRP16_HUMAN	Y	1100;412	ENSP00000268482:H1100Y;ENSP00000437898:H412Y	ENSP00000268482:H1100Y	H	+	1	0	DHX38	70700242	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.097000	0.76967	2.677000	0.91161	0.655000	0.94253	CAC		PASS	0.542	DHX38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269004.3	NM_014003		87	10	87	10	---	---	---	---
RFWD3	55159	broad.mit.edu	37	16	74678506	74678506	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2756-01A-01D-1522-08	TCGA-66-2756-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	472c95e6-eccb-4988-be16-fdace73b2ed8	ff4f5936-f847-42ad-aedf-6a6a7fff6002	g.chr16:74678506C>A	ENST00000361070.4	-	5	1017	c.920G>T	c.(919-921)tGt>tTt	p.C307F	RFWD3_ENST00000571750.1_Missense_Mutation_p.C307F	NM_018124.3	NP_060594.3	Q6PCD5	RFWD3_HUMAN	ring finger and WD repeat domain 3	307					DNA repair (GO:0006281)|mitotic G1 DNA damage checkpoint (GO:0031571)|protein ubiquitination (GO:0016567)|regulation of DNA damage checkpoint (GO:2000001)|response to ionizing radiation (GO:0010212)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|MDM2/MDM4 family protein binding (GO:0097371)|p53 binding (GO:0002039)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.C307F(1)		NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	26						GAGATGCCCACAGCGTAATGC	0.483																																						uc002fda.2																			1	Substitution - Missense(1)		lung(1)	lung(2)|breast(1)	3						c.(919-921)TGT>TTT		ring finger and WD repeat domain 3							114.0	104.0	107.0					16																	74678506		2198	4300	6498	SO:0001583	missense	55159				DNA repair|mitotic cell cycle G1/S transition DNA damage checkpoint|response to ionizing radiation	nucleus	MDM2 binding|p53 binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr16:74678506C>A	AK001382	CCDS32486.1	16q22.3	2013-01-09						"""WD repeat domain containing"", ""RING-type (C3HC4) zinc fingers"""	25539	protein-coding gene	gene with protein product		614151				21504906	Standard	XM_005256021		Approved	FLJ10520, RNF201	uc002fda.3	Q6PCD5		ENST00000361070.4:c.920G>T	16.37:g.74678506C>A	ENSP00000354361:p.Cys307Phe					RFWD3_uc010cgq.2_Missense_Mutation_p.C307F	p.C307F	NM_018124	NP_060594	Q6PCD5	RFWD3_HUMAN			5	1018	-			307			RING-type; degenerate.		A8K585|B2RE35|D3DUJ8|Q5XKR3|Q9H9Q3|Q9NVT4	Missense_Mutation	SNP	ENST00000361070.4	37	c.920G>T	CCDS32486.1	.	.	.	.	.	.	.	.	.	.	C	28.1	4.894010	0.91889	.	.	ENSG00000168411	ENST00000361070	D	0.99741	-6.6	5.93	5.93	0.95920	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-type (2);Zinc finger, C3HC4 RING-type (1);	0.000000	0.85682	D	0.000000	D	0.99894	0.9949	H	0.99705	4.715	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.96240	0.9175	10	0.87932	D	0	-1.3292	20.328	0.98708	0.0:1.0:0.0:0.0	.	307	Q6PCD5	RFWD3_HUMAN	F	307	ENSP00000354361:C307F	ENSP00000354361:C307F	C	-	2	0	RFWD3	73236007	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	7.239000	0.78182	2.802000	0.96397	0.561000	0.74099	TGT		PASS	0.483	RFWD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000436506.2	NM_018124		20	185	20	185	---	---	---	---
FAM92B	339145	broad.mit.edu	37	16	85132794	85132794	+	Silent	SNP	G	G	C			TCGA-66-2756-01A-01D-1522-08	TCGA-66-2756-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	472c95e6-eccb-4988-be16-fdace73b2ed8	ff4f5936-f847-42ad-aedf-6a6a7fff6002	g.chr16:85132794G>C	ENST00000539556.1	-	9	1067	c.912C>G	c.(910-912)ctC>ctG	p.L304L		NM_198491.1	NP_940893.1	Q6ZTR7	FA92B_HUMAN	family with sequence similarity 92, member B	304								p.L304L(1)		breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)	16						TACGTCGTTAGAGAGAATGTC	0.478																																						uc010vok.1																			1	Substitution - coding silent(1)		lung(1)	central_nervous_system(1)	1						c.(910-912)CTC>CTG		hypothetical protein LOC339145							101.0	91.0	95.0					16																	85132794		2198	4300	6498	SO:0001819	synonymous_variant	339145							g.chr16:85132794G>C		CCDS32500.1	16q24.1	2005-09-22				ENSG00000153789			24781	protein-coding gene	gene with protein product						12477932	Standard	NM_198491		Approved	FLJ44299	uc021tlz.1	Q6ZTR7		ENST00000539556.1:c.912C>G	16.37:g.85132794G>C							p.L304L	NM_198491	NP_940893	Q6ZTR7	FA92B_HUMAN			8	1068	-			304						Silent	SNP	ENST00000539556.1	37	c.912C>G	CCDS32500.1																																																																																				PASS	0.478	FAM92B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_198491		5	142	5	142	---	---	---	---
SLC7A5	8140	broad.mit.edu	37	16	87874694	87874694	+	Silent	SNP	C	C	G			TCGA-66-2756-01A-01D-1522-08	TCGA-66-2756-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	472c95e6-eccb-4988-be16-fdace73b2ed8	ff4f5936-f847-42ad-aedf-6a6a7fff6002	g.chr16:87874694C>G	ENST00000261622.4	-	3	797	c.732G>C	c.(730-732)gtG>gtC	p.V244V	SLC7A5_ENST00000565644.1_5'UTR	NM_003486.5	NP_003477.4	Q01650	LAT1_HUMAN	solute carrier family 7 (amino acid transporter light chain, L system), member 5	244					amino acid transport (GO:0006865)|blood coagulation (GO:0007596)|cell differentiation (GO:0030154)|cellular amino acid metabolic process (GO:0006520)|ion transport (GO:0006811)|leukocyte migration (GO:0050900)|nervous system development (GO:0007399)|neutral amino acid transport (GO:0015804)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	amino acid transmembrane transporter activity (GO:0015171)|L-amino acid transmembrane transporter activity (GO:0015179)|neutral amino acid transmembrane transporter activity (GO:0015175)|peptide antigen binding (GO:0042605)	p.V244V(1)		endometrium(3)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	10				BRCA - Breast invasive adenocarcinoma(80;0.049)	Dextrothyroxine(DB00509)|L-DOPA(DB01235)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Melphalan(DB01042)	ATAATGCCAGCACAATGTTCC	0.517																																						uc002fkm.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(730-732)GTG>GTC		solute carrier family 7 (cationic amino acid							216.0	187.0	197.0					16																	87874694		2198	4300	6498	SO:0001819	synonymous_variant	8140				blood coagulation|cell differentiation|cellular amino acid metabolic process|ion transport|leukocyte migration|nervous system development	apical plasma membrane|cytosol|integral to membrane	neutral amino acid transmembrane transporter activity|peptide antigen binding	g.chr16:87874694C>G	AF077866	CCDS10964.1	16q24.3	2013-05-22	2011-07-12		ENSG00000103257	ENSG00000103257		"""CD molecules"", ""Solute carriers"""	11063	protein-coding gene	gene with protein product		600182				9751058, 7829099	Standard	XM_006721286		Approved	LAT1, E16, D16S469E, MPE16, CD98	uc002fkm.3	Q01650	OTTHUMG00000137658	ENST00000261622.4:c.732G>C	16.37:g.87874694C>G							p.V244V	NM_003486	NP_003477	Q01650	LAT1_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.049)	3	804	-			244			Helical; (Potential).		Q8IV97|Q9UBN8|Q9UP15|Q9UQC0	Silent	SNP	ENST00000261622.4	37	c.732G>C	CCDS10964.1																																																																																				PASS	0.517	SLC7A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269110.2	NM_003486		41	77	41	77	---	---	---	---
CA5A	763	broad.mit.edu	37	16	87960508	87960508	+	Silent	SNP	G	G	A			TCGA-66-2756-01A-01D-1522-08	TCGA-66-2756-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	472c95e6-eccb-4988-be16-fdace73b2ed8	ff4f5936-f847-42ad-aedf-6a6a7fff6002	g.chr16:87960508G>A	ENST00000309893.2	-	2	251	c.186C>T	c.(184-186)acC>acT	p.T62T	CA5A_ENST00000568801.1_5'UTR	NM_001739.1	NP_001730.1	P35218	CAH5A_HUMAN	carbonic anhydrase VA, mitochondrial	62					bicarbonate transport (GO:0015701)|one-carbon metabolic process (GO:0006730)|small molecule metabolic process (GO:0044281)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	carbonate dehydratase activity (GO:0004089)|zinc ion binding (GO:0008270)	p.T62T(1)		large_intestine(4)|lung(8)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	16				BRCA - Breast invasive adenocarcinoma(80;0.0513)	Brinzolamide(DB01194)|Zonisamide(DB00909)	GAGACTGCCGGGTGCCCCCTG	0.602																																						uc002fkn.1																			1	Substitution - coding silent(1)		lung(1)		0						c.(184-186)ACC>ACT		carbonic anhydrase VA, mitochondrial precursor							31.0	30.0	30.0					16																	87960508		2196	4299	6495	SO:0001819	synonymous_variant	763				one-carbon metabolic process	mitochondrial matrix	carbonate dehydratase activity|zinc ion binding	g.chr16:87960508G>A	L19297	CCDS10965.1	16q24.2	2012-08-21			ENSG00000174990	ENSG00000174990	4.2.1.1	"""Carbonic anhydrases"""	1377	protein-coding gene	gene with protein product		114761		CA5		8356065, 7490083	Standard	NM_001739		Approved	CAV, CAVA	uc002fkn.1	P35218	OTTHUMG00000137677	ENST00000309893.2:c.186C>T	16.37:g.87960508G>A							p.T62T	NM_001739	NP_001730	P35218	CAH5A_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.0513)	2	242	-			62					B2RPF2	Silent	SNP	ENST00000309893.2	37	c.186C>T	CCDS10965.1																																																																																				PASS	0.602	CA5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269164.1	NM_001739		6	9	6	9	---	---	---	---
ACSF3	197322	broad.mit.edu	37	16	89169102	89169102	+	Missense_Mutation	SNP	G	G	T	rs534495046	byFrequency	TCGA-66-2756-01A-01D-1522-08	TCGA-66-2756-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	472c95e6-eccb-4988-be16-fdace73b2ed8	ff4f5936-f847-42ad-aedf-6a6a7fff6002	g.chr16:89169102G>T	ENST00000317447.4	+	4	1134	c.757G>T	c.(757-759)Gcg>Tcg	p.A253S	ACSF3_ENST00000378345.4_5'UTR|ACSF3_ENST00000406948.3_Missense_Mutation_p.A253S	NM_001127214.2|NM_001243279.1|NM_001284316.1|NM_174917.3	NP_001120686.1|NP_001230208.1|NP_001271245.1|NP_777577.2	Q4G176	ACSF3_HUMAN	acyl-CoA synthetase family member 3	253					fatty acid biosynthetic process (GO:0006633)|fatty acid metabolic process (GO:0006631)|malonate catabolic process (GO:0090410)	mitochondrion (GO:0005739)	acid-thiol ligase activity (GO:0016878)|ATP binding (GO:0005524)|malonyl-CoA synthetase activity (GO:0090409)	p.A253S(1)		central_nervous_system(1)|endometrium(1)|kidney(2)|lung(9)|prostate(1)|urinary_tract(1)	15				BRCA - Breast invasive adenocarcinoma(80;0.0281)		TGTGGTCAACGCGCTGCTCTG	0.627																																						uc002fmp.2																			1	Substitution - Missense(1)		lung(1)		0						c.(757-759)GCG>TCG		acyl-CoA synthetase family member 3 precursor							132.0	94.0	107.0					16																	89169102		2198	4300	6498	SO:0001583	missense	197322				fatty acid metabolic process	mitochondrion	acid-thiol ligase activity|ATP binding	g.chr16:89169102G>T	AK075499	CCDS10974.1, CCDS73926.1	16q24.3	2013-01-15			ENSG00000176715	ENSG00000176715		"""Acyl-CoA synthetase family"""	27288	protein-coding gene	gene with protein product	"""malonyl-CoA synthetase"""	614245				17762044, 21846720	Standard	XM_005256293		Approved		uc010cig.2	Q4G176	OTTHUMG00000138044	ENST00000317447.4:c.757G>T	16.37:g.89169102G>T	ENSP00000320646:p.Ala253Ser					ACSF3_uc010cig.1_Missense_Mutation_p.A253S|ACSF3_uc010cih.1_5'UTR|ACSF3_uc002fmq.1_RNA|ACSF3_uc010cii.1_RNA|ACSF3_uc002fmr.1_5'UTR	p.A253S	NM_174917	NP_777577	Q4G176	ACSF3_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.0281)	4	1097	+			253					A8K4J8|C9JQL6|Q6INA0|Q8N2F7	Missense_Mutation	SNP	ENST00000317447.4	37	c.757G>T	CCDS10974.1	.	.	.	.	.	.	.	.	.	.	G	14.61	2.588056	0.46110	.	.	ENSG00000176715	ENST00000317447;ENST00000406948;ENST00000538340	T;T;T	0.39787	1.06;1.06;1.06	5.02	3.92	0.45320	AMP-dependent synthetase/ligase (1);	0.090843	0.85682	D	0.000000	T	0.46249	0.1383	L	0.39514	1.22	0.80722	D	1	B	0.31548	0.328	P	0.48063	0.565	T	0.40646	-0.9552	10	0.42905	T	0.14	-30.6413	10.0078	0.41968	0.9174:0.0:0.0825:0.0	.	253	Q4G176	ACSF3_HUMAN	S	253;253;28	ENSP00000320646:A253S;ENSP00000384627:A253S;ENSP00000445870:A28S	ENSP00000320646:A253S	A	+	1	0	ACSF3	87696603	1.000000	0.71417	1.000000	0.80357	0.019000	0.09904	6.711000	0.74675	0.758000	0.33059	-0.373000	0.07131	GCG		PASS	0.627	ACSF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269919.1	NM_174917		10	67	10	67	---	---	---	---
OR1D2	4991	broad.mit.edu	37	17	2996172	2996172	+	Missense_Mutation	SNP	A	A	T			TCGA-66-2756-01A-01D-1522-08	TCGA-66-2756-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	472c95e6-eccb-4988-be16-fdace73b2ed8	ff4f5936-f847-42ad-aedf-6a6a7fff6002	g.chr17:2996172A>T	ENST00000331459.1	-	1	118	c.119T>A	c.(118-120)gTg>gAg	p.V40E		NM_002548.2	NP_002539.2	P34982	OR1D2_HUMAN	olfactory receptor, family 1, subfamily D, member 2	40					cellular component movement (GO:0006928)|chemotaxis (GO:0006935)|detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|G-protein coupled receptor signaling pathway (GO:0007186)|protein import into nucleus, translocation (GO:0000060)|sensory perception of smell (GO:0007608)|single fertilization (GO:0007338)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.V40E(1)		kidney(2)|large_intestine(2)|lung(10)|ovary(1)	15						CACATTTCCCACCACCGTGAC	0.542																																						uc010vrb.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(118-120)GTG>GAG		olfactory receptor, family 1, subfamily D,							131.0	122.0	125.0					17																	2996172		2203	4300	6503	SO:0001583	missense	4991				cellular component movement|chemotaxis|protein import into nucleus, translocation|sensory perception of smell|single fertilization	integral to plasma membrane	olfactory receptor activity	g.chr17:2996172A>T	U04678	CCDS11019.1	17p13.3	2012-08-09			ENSG00000184166	ENSG00000184166		"""GPCR / Class A : Olfactory receptors"""	8183	protein-coding gene	gene with protein product		164342		OLFR1		1370859, 1840504	Standard	NM_002548		Approved	OR17-4	uc010vrb.2	P34982	OTTHUMG00000090619	ENST00000331459.1:c.119T>A	17.37:g.2996172A>T	ENSP00000327585:p.Val40Glu						p.V40E	NM_002548	NP_002539	P34982	OR1D2_HUMAN			1	119	-			40			Helical; Name=1; (Potential).		Q6IFL8|Q96RA4|Q9UM78	Missense_Mutation	SNP	ENST00000331459.1	37	c.119T>A	CCDS11019.1	.	.	.	.	.	.	.	.	.	.	A	7.248	0.602652	0.13939	.	.	ENSG00000184166	ENST00000331459	T	0.00468	7.22	3.14	0.756	0.18421	.	.	.	.	.	T	0.00608	0.0020	M	0.87617	2.895	0.09310	N	1	P	0.36354	0.549	B	0.35727	0.209	T	0.33624	-0.9861	9	0.72032	D	0.01	.	6.7591	0.23530	0.7734:0.0:0.2266:0.0	.	40	P34982	OR1D2_HUMAN	E	40	ENSP00000327585:V40E	ENSP00000327585:V40E	V	-	2	0	OR1D2	2942922	0.001000	0.12720	0.003000	0.11579	0.287000	0.27160	1.542000	0.36137	0.314000	0.23086	0.443000	0.29094	GTG		PASS	0.542	OR1D2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207207.1	NM_002548		58	189	58	189	---	---	---	---
ZZEF1	23140	broad.mit.edu	37	17	3967877	3967877	+	Missense_Mutation	SNP	G	G	A			TCGA-66-2756-01A-01D-1522-08	TCGA-66-2756-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	472c95e6-eccb-4988-be16-fdace73b2ed8	ff4f5936-f847-42ad-aedf-6a6a7fff6002	g.chr17:3967877G>A	ENST00000381638.2	-	29	4620	c.4496C>T	c.(4495-4497)tCc>tTc	p.S1499F		NM_015113.3	NP_055928.3	O43149	ZZEF1_HUMAN	zinc finger, ZZ-type with EF-hand domain 1	1499							calcium ion binding (GO:0005509)|zinc ion binding (GO:0008270)	p.S1499F(1)		central_nervous_system(1)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	84						GCCACTGCTGGATGGCAGCTT	0.642																																						uc002fxe.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|central_nervous_system(1)|pancreas(1)	4						c.(4495-4497)TCC>TTC		zinc finger, ZZ type with EF hand domain 1							51.0	48.0	49.0					17																	3967877		2203	4300	6503	SO:0001583	missense	23140						calcium ion binding|zinc ion binding	g.chr17:3967877G>A	BC035319	CCDS11043.1	17p13.3	2013-01-10	2004-11-03		ENSG00000074755	ENSG00000074755		"""Zinc fingers, ZZ-type"", ""EF-hand domain containing"""	29027	protein-coding gene	gene with protein product			"""zinc finger, ZZ-type with EF hand domain 1"""			9455477	Standard	XM_005256560		Approved	KIAA0399, ZZZ4, FLJ10821	uc002fxe.3	O43149	OTTHUMG00000090741	ENST00000381638.2:c.4496C>T	17.37:g.3967877G>A	ENSP00000371051:p.Ser1499Phe					ZZEF1_uc002fxh.2_5'Flank|ZZEF1_uc002fxi.2_5'UTR|ZZEF1_uc002fxj.1_Missense_Mutation_p.S112F	p.S1499F	NM_015113	NP_055928	O43149	ZZEF1_HUMAN			29	4560	-			1499					A7MBM5|Q6NXG0|Q6ZRA1|Q6ZSF4|Q9NVB9	Missense_Mutation	SNP	ENST00000381638.2	37	c.4496C>T	CCDS11043.1	.	.	.	.	.	.	.	.	.	.	G	14.07	2.424959	0.43020	.	.	ENSG00000074755	ENST00000381638	T	0.22134	1.97	5.53	3.51	0.40186	.	0.682008	0.14989	N	0.286817	T	0.14313	0.0346	N	0.14661	0.345	0.09310	N	1	B;B	0.27117	0.168;0.105	B;B	0.30495	0.116;0.033	T	0.23655	-1.0182	10	0.72032	D	0.01	-3.2802	10.8593	0.46817	0.0685:0.0:0.8021:0.1294	.	1499;1499	O43149-2;O43149	.;ZZEF1_HUMAN	F	1499	ENSP00000371051:S1499F	ENSP00000371051:S1499F	S	-	2	0	ZZEF1	3914626	0.002000	0.14202	0.049000	0.19019	0.121000	0.20230	0.537000	0.23144	1.317000	0.45149	0.591000	0.81541	TCC		PASS	0.642	ZZEF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207480.1	NM_015113		6	60	6	60	---	---	---	---
GP1BA	2811	broad.mit.edu	37	17	4837541	4837541	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2756-01A-01D-1522-08	TCGA-66-2756-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	472c95e6-eccb-4988-be16-fdace73b2ed8	ff4f5936-f847-42ad-aedf-6a6a7fff6002	g.chr17:4837541C>T	ENST00000329125.5	+	2	1717	c.1642C>T	c.(1642-1644)Ctc>Ttc	p.L548F		NM_000173.5	NP_000164.5	P07359	GP1BA_HUMAN	glycoprotein Ib (platelet), alpha polypeptide	548					blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|cell adhesion (GO:0007155)|cell morphogenesis (GO:0000902)|cell surface receptor signaling pathway (GO:0007166)|fibrinolysis (GO:0042730)|platelet activation (GO:0030168)|regulation of blood coagulation (GO:0030193)|thrombin receptor signaling pathway (GO:0070493)	anchored component of external side of plasma membrane (GO:0031362)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	thrombin receptor activity (GO:0015057)	p.L548F(1)		central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(5)|stomach(1)|urinary_tract(1)	20						CTCTGTGGTCCTCATCCTGCT	0.577																																						uc010vsq.1																			1	Substitution - Missense(1)		lung(1)		0						c.(1603-1605)CTC>TTC		platelet glycoprotein Ib alpha polypeptide							77.0	85.0	82.0					17																	4837541		2059	4216	6275	SO:0001583	missense	2811							g.chr17:4837541C>T		CCDS54068.1	17p13.2	2014-09-17			ENSG00000185245	ENSG00000185245		"""CD molecules"""	4439	protein-coding gene	gene with protein product		606672		GP1B		3353370	Standard	NM_000173		Approved	CD42b	uc021tnz.1	P07359	OTTHUMG00000177946	ENST00000329125.5:c.1642C>T	17.37:g.4837541C>T	ENSP00000329380:p.Leu548Phe					uc002fzn.1_RNA	p.L535F	NM_000173	NP_000164	P07359	GP1BA_HUMAN			3	1678	+			548					E7ES66|Q14441|Q16469|Q8N1F3|Q8NG39|Q9HDC7|Q9UEK1|Q9UQS4	Missense_Mutation	SNP	ENST00000329125.5	37	c.1603C>T	CCDS54068.1	.	.	.	.	.	.	.	.	.	.	C	15.44	2.832934	0.50951	.	.	ENSG00000185245	ENST00000329125;ENST00000438881	T	0.60040	0.22	5.02	5.02	0.67125	.	.	.	.	.	T	0.66636	0.2809	L	0.36672	1.1	0.32817	D	0.502248	D	0.89917	1.0	D	0.72075	0.976	T	0.73238	-0.4046	9	0.56958	D	0.05	-14.359	13.8918	0.63744	0.0:1.0:0.0:0.0	.	535	A5CKE2	.	F	548;522	ENSP00000329380:L548F	ENSP00000329380:L548F	L	+	1	0	GP1BA	4778282	0.238000	0.23825	0.999000	0.59377	0.355000	0.29361	2.510000	0.45468	2.360000	0.80028	0.460000	0.39030	CTC		PASS	0.577	GP1BA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439889.1			66	30	66	30	---	---	---	---
ASGR2	433	broad.mit.edu	37	17	7011806	7011806	+	Silent	SNP	C	C	A			TCGA-66-2756-01A-01D-1522-08	TCGA-66-2756-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	472c95e6-eccb-4988-be16-fdace73b2ed8	ff4f5936-f847-42ad-aedf-6a6a7fff6002	g.chr17:7011806C>A	ENST00000380952.2	-	4	591	c.327G>T	c.(325-327)acG>acT	p.T109T	ASGR2_ENST00000446679.2_Silent_p.T90T|ASGR2_ENST00000254850.7_Silent_p.T85T|ASGR2_ENST00000355035.5_Silent_p.T109T	NM_001181.4|NM_001201352.1|NM_080912.3	NP_001172|NP_001188281.1|NP_550434	P07307	ASGR2_HUMAN	asialoglycoprotein receptor 2	109					bone mineralization (GO:0030282)|cell surface receptor signaling pathway (GO:0007166)|glycoprotein metabolic process (GO:0009100)|lipid homeostasis (GO:0055088)|receptor-mediated endocytosis (GO:0006898)|regulation of protein stability (GO:0031647)	integral component of membrane (GO:0016021)	asialoglycoprotein receptor activity (GO:0004873)|carbohydrate binding (GO:0030246)	p.T109T(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(3)|ovary(1)|skin(3)|stomach(4)	18					Antihemophilic Factor(DB00025)	CCTGGACCTCCGTCAGGGTGC	0.612																																						uc002gep.3																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(325-327)ACG>ACT		asialoglycoprotein receptor 2 isoform a	Antihemophilic Factor(DB00025)						62.0	52.0	55.0					17																	7011806		2203	4300	6503	SO:0001819	synonymous_variant	433				cell surface receptor linked signaling pathway|endocytosis	focal adhesion|integral to membrane|nucleolus	asialoglycoprotein receptor activity|protein binding|sugar binding	g.chr17:7011806C>A	M11025	CCDS11088.1, CCDS32544.1, CCDS45598.1	17p	2011-08-30			ENSG00000161944	ENSG00000161944		"""C-type lectin domain containing"""	743	protein-coding gene	gene with protein product		108361				3863106	Standard	NM_080912		Approved	CLEC4H2	uc002ger.3	P07307	OTTHUMG00000102158	ENST00000380952.2:c.327G>T	17.37:g.7011806C>A						ASGR2_uc010vtk.1_5'Flank|ASGR2_uc002gem.1_Silent_p.T49T|ASGR2_uc002gen.1_Silent_p.T90T|ASGR2_uc002geo.1_Silent_p.T104T|ASGR2_uc002ger.3_Silent_p.T109T|ASGR2_uc002geq.3_Silent_p.T85T|ASGR2_uc010clw.2_Silent_p.T85T|ASGR2_uc010vtl.1_RNA	p.T109T	NM_001181	NP_001172	P07307	ASGR2_HUMAN			4	592	-			109			Extracellular (Potential).		A6NLV8|A8MT12|D3DTM9|D3DTN0|O00448|Q03969	Silent	SNP	ENST00000380952.2	37	c.327G>T	CCDS32544.1																																																																																				PASS	0.612	ASGR2-201	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000220003.1	NM_080914		11	7	11	7	---	---	---	---
TP53	7157	broad.mit.edu	37	17	7578407	7578407	+	Missense_Mutation	SNP	G	G	C	rs138729528		TCGA-66-2756-01A-01D-1522-08	TCGA-66-2756-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	472c95e6-eccb-4988-be16-fdace73b2ed8	ff4f5936-f847-42ad-aedf-6a6a7fff6002	g.chr17:7578407G>C	ENST00000269305.4	-	5	712	c.523C>G	c.(523-525)Cgc>Ggc	p.R175G	TP53_ENST00000574684.1_5'UTR|TP53_ENST00000420246.2_Missense_Mutation_p.R175G|TP53_ENST00000445888.2_Missense_Mutation_p.R175G|TP53_ENST00000359597.4_Missense_Mutation_p.R175G|TP53_ENST00000455263.2_Missense_Mutation_p.R175G|TP53_ENST00000413465.2_Missense_Mutation_p.R175G	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	175	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		R -> C (in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; does not induce SNAI1 degradation; reduces interaction with ZNF385A; dbSNP:rs28934578). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:1868473, ECO:0000269|PubMed:7887414, ECO:0000269|PubMed:8825920}.|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in a sporadic cancer; somatic mutation).|R -> S (in sporadic cancers; somatic mutation).		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.R175G(20)|p.R175C(19)|p.0?(8)|p.R175S(5)|p.R43G(3)|p.R174fs*24(3)|p.R82G(3)|p.R175_E180delRCPHHE(3)|p.R43C(2)|p.V173fs*59(2)|p.R174fs*1(2)|p.R82C(2)|p.V157_C176del20(1)|p.V173fs*69(1)|p.E171fs*61(1)|p.V173fs*23(1)|p.R174_H178>S(1)|p.V172_E180delVVRRCPHHE(1)|p.R174_H179delRRCPHH(1)|p.E171fs*1(1)|p.R175_H178>X(1)|p.R175fs*5(1)|p.R175fs*6(1)|p.R42fs*24(1)|p.R174_C176delRRC(1)|p.H168fs*69(1)|p.R175fs*72(1)|p.R174fs*70(1)|p.E171_H179delEVVRRCPHH(1)|p.R81fs*24(1)|p.S149fs*72(1)|p.R174_E180>K(1)|p.R174fs*3(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)	TGGGGGCAGCGCCTCACAACC	0.657		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		93	Substitution - Missense(54)|Deletion - Frameshift(19)|Deletion - In frame(8)|Whole gene deletion(8)|Complex - deletion inframe(3)|Insertion - Frameshift(1)	p.R175H(721)|p.R175L(19)|p.R175C(12)|p.R175G(11)|p.0?(7)|p.R175P(5)|p.R175S(5)|p.R175R(4)|p.R174fs*24(3)|p.R175_E180delRCPHHE(3)|p.R175fs*5(2)|p.V173fs*59(2)|p.R174fs*1(2)|p.V157_C176del20(1)|p.K164_P219del(1)|p.V173fs*69(1)|p.E171fs*61(1)|p.V173fs*23(1)|p.R174_H178>S(1)|p.V172_E180delVVRRCPHHE(1)|p.R174_H179delRRCPHH(1)|p.E171fs*1(1)|p.R175_H178>X(1)|p.R175fs*6(1)|p.R42fs*24(1)|p.R174_C176delRRC(1)|p.H168fs*69(1)|p.R175fs*72(1)|p.R174fs*70(1)|p.E171_H179delEVVRRCPHH(1)|p.R81fs*24(1)|p.S149fs*72(1)|p.R174_E180>K(1)|p.R174fs*3(1)	large_intestine(25)|lung(19)|breast(11)|upper_aerodigestive_tract(8)|oesophagus(7)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(4)|liver(4)|bone(4)|stomach(2)|salivary_gland(2)|urinary_tract(2)|cervix(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	CM011013	TP53	M	rs138729528	c.(523-525)CGC>GGC	Other_conserved_DNA_damage_response_genes	tumor protein p53 isoform a							50.0	50.0	50.0					17																	7578407		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.chr17:7578407G>C	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.523C>G	17.37:g.7578407G>C	ENSP00000269305:p.Arg175Gly	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.R175G|TP53_uc002gih.2_Missense_Mutation_p.R175G|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.R43G|TP53_uc010cng.1_Missense_Mutation_p.R43G|TP53_uc002gii.1_Missense_Mutation_p.R43G|TP53_uc010cnh.1_Missense_Mutation_p.R175G|TP53_uc010cni.1_Missense_Mutation_p.R175G|TP53_uc002gij.2_Missense_Mutation_p.R175G|TP53_uc010cnj.1_RNA|TP53_uc002gin.2_Missense_Mutation_p.R82G|TP53_uc002gio.2_Missense_Mutation_p.R43G|TP53_uc010vug.1_Missense_Mutation_p.R136G	p.R175G	NM_001126112	NP_001119584	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	5	717	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	175		R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Q (in a sporadic cancer; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> C (in sporadic cancers; somatic mutation).|R -> S (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.523C>G	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	G	18.19	3.570086	0.65765	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315	D;D;D;D;D;D;D;D	0.99891	-7.56;-7.56;-7.56;-7.56;-7.56;-7.56;-7.56;-7.56	5.41	2.14	0.27477	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.101149	0.64402	D	0.000008	D	0.99862	0.9935	M	0.92784	3.345	0.58432	D	0.999991	D;D;D;D;D;D;D	0.89917	1.0;0.998;1.0;1.0;0.999;0.997;1.0	D;D;D;D;D;D;D	0.97110	1.0;0.987;1.0;0.999;0.992;0.975;1.0	D	0.98196	1.0465	10	0.87932	D	0	-11.8679	4.599	0.12343	0.171:0.0:0.5642:0.2648	.	136;175;175;82;175;175;175	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	G	175;175;175;175;175;175;164;82;43;82;43	ENSP00000410739:R175G;ENSP00000352610:R175G;ENSP00000269305:R175G;ENSP00000398846:R175G;ENSP00000391127:R175G;ENSP00000391478:R175G;ENSP00000425104:R43G;ENSP00000423862:R82G	ENSP00000269305:R175G	R	-	1	0	TP53	7519132	1.000000	0.71417	0.786000	0.31890	0.745000	0.42441	4.630000	0.61297	0.778000	0.33520	-0.140000	0.14226	CGC		PASS	0.657	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		42	12	42	12	---	---	---	---
KDM6B	23135	broad.mit.edu	37	17	7750033	7750033	+	Missense_Mutation	SNP	G	G	A			TCGA-66-2756-01A-01D-1522-08	TCGA-66-2756-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	472c95e6-eccb-4988-be16-fdace73b2ed8	ff4f5936-f847-42ad-aedf-6a6a7fff6002	g.chr17:7750033G>A	ENST00000448097.2	+	8	1017	c.686G>A	c.(685-687)cGa>cAa	p.R229Q	KDM6B_ENST00000254846.5_Missense_Mutation_p.R229Q			O15054	KDM6B_HUMAN	lysine (K)-specific demethylase 6B	229	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.R229Q(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						GGAGGCAAGCGAAGGAGAGGC	0.622																																						uc002giw.1																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)|pancreas(1)	2						c.(685-687)CGA>CAA		lysine (K)-specific demethylase 6B							71.0	70.0	70.0					17																	7750033		2203	4300	6503	SO:0001583	missense	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.chr17:7750033G>A	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.686G>A	17.37:g.7750033G>A	ENSP00000412513:p.Arg229Gln					KDM6B_uc002gix.2_5'Flank	p.R229Q	NM_001080424	NP_001073893	O15054	KDM6B_HUMAN			8	1062	+			229			Pro-rich.		C9IZ40|Q96G33	Missense_Mutation	SNP	ENST00000448097.2	37	c.686G>A		.	.	.	.	.	.	.	.	.	.	G	14.99	2.698865	0.48307	.	.	ENSG00000132510	ENST00000254846;ENST00000448097	T;T	0.39997	1.05;1.06	4.84	4.84	0.62591	.	0.000000	0.47455	D	0.000221	T	0.44201	0.1282	N	0.08118	0	0.42471	D	0.992827	D	0.89917	1.0	D	0.81914	0.995	T	0.50825	-0.8782	10	0.42905	T	0.14	-15.2329	15.8321	0.78760	0.0:0.0:1.0:0.0	.	229	O15054-1	.	Q	229	ENSP00000254846:R229Q;ENSP00000412513:R229Q	ENSP00000254846:R229Q	R	+	2	0	KDM6B	7690758	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	1.819000	0.39022	2.688000	0.91661	0.561000	0.74099	CGA		PASS	0.622	KDM6B-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000440248.1	XM_043272		81	18	81	18	---	---	---	---
DNAH9	1770	broad.mit.edu	37	17	11837289	11837289	+	Nonsense_Mutation	SNP	C	C	A			TCGA-66-2756-01A-01D-1522-08	TCGA-66-2756-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	472c95e6-eccb-4988-be16-fdace73b2ed8	ff4f5936-f847-42ad-aedf-6a6a7fff6002	g.chr17:11837289C>A	ENST00000262442.4	+	65	12458	c.12390C>A	c.(12388-12390)taC>taA	p.Y4130*	DNAH9_ENST00000608377.1_Nonsense_Mutation_p.Y442*|DNAH9_ENST00000396001.2_3'UTR|DNAH9_ENST00000454412.2_Nonsense_Mutation_p.Y4054*	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	4130					cell projection organization (GO:0030030)|cellular component movement (GO:0006928)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|spermatogenesis (GO:0007283)	axoneme (GO:0005930)|cytoskeleton (GO:0005856)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)	p.Y4130*(1)		NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		GCAGAACCTACCTGGGGGAAT	0.493																																						uc002gne.2																			1	Substitution - Nonsense(1)		lung(1)	skin(10)|ovary(4)|breast(3)|central_nervous_system(2)|pancreas(1)	20						c.(12388-12390)TAC>TAA		dynein, axonemal, heavy chain 9 isoform 2							98.0	96.0	97.0					17																	11837289		2203	4300	6503	SO:0001587	stop_gained	1770				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr17:11837289C>A	U61740	CCDS11160.1, CCDS11161.1	17p12	2009-05-07	2006-09-04		ENSG00000007174	ENSG00000007174		"""Axonemal dyneins"""	2953	protein-coding gene	gene with protein product		603330	"""dynein, axonemal, heavy polypeptide 17-like"", ""dynein, axonemal, heavy polypeptide 9"""	DNAH17L		8812413, 11247663	Standard	NM_001372		Approved	Dnahc9, KIAA0357, HL20, HL-20, DNAL1, DYH9	uc002gne.3	Q9NYC9	OTTHUMG00000130383	ENST00000262442.4:c.12390C>A	17.37:g.11837289C>A	ENSP00000262442:p.Tyr4130*					DNAH9_uc010coo.2_Nonsense_Mutation_p.Y3348*|DNAH9_uc002gnf.2_Nonsense_Mutation_p.Y442*	p.Y4130*	NM_001372	NP_001363	Q9NYC9	DYH9_HUMAN		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)	65	12458	+		Breast(5;0.0122)|all_epithelial(5;0.131)	4130					A2VCQ8|O15064|O95494|Q9NQ28	Nonsense_Mutation	SNP	ENST00000262442.4	37	c.12390C>A	CCDS11160.1	.	.	.	.	.	.	.	.	.	.	C	52	19.851941	0.99924	.	.	ENSG00000007174	ENST00000262442;ENST00000454412;ENST00000413703;ENST00000396001	.	.	.	5.0	-2.63	0.06133	.	0.251263	0.41500	D	0.000879	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	12.2619	0.54655	0.0:0.3321:0.0:0.6679	.	.	.	.	X	4130;4054;2636;442	.	ENSP00000262442:Y4130X	Y	+	3	2	DNAH9	11778014	0.883000	0.30277	0.985000	0.45067	0.656000	0.38851	0.096000	0.15147	-0.458000	0.07023	-0.157000	0.13467	TAC		PASS	0.493	DNAH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252756.2	NM_001372		83	33	83	33	---	---	---	---
TMEM199	147007	broad.mit.edu	37	17	26691546	26691546	+	IGR	SNP	G	G	A			TCGA-66-2756-01A-01D-1522-08	TCGA-66-2756-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	472c95e6-eccb-4988-be16-fdace73b2ed8	ff4f5936-f847-42ad-aedf-6a6a7fff6002	g.chr17:26691546G>A	ENST00000292114.3	+	0	3148				TMEM199_ENST00000509083.1_Intron|SARM1_ENST00000379061.4_Intron|VTN_ENST00000536498.1_Missense_Mutation_p.P131L|VTN_ENST00000438614.1_Missense_Mutation_p.P131L|VTN_ENST00000431468.1_Missense_Mutation_p.P132L|CTB-96E2.7_ENST00000577850.1_RNA|CTB-96E2.3_ENST00000591482.1_RNA|CTB-96E2.2_ENST00000555059.2_3'UTR	NM_152464.1	NP_689677.1	Q8N511	TM199_HUMAN	transmembrane protein 199							integral component of membrane (GO:0016021)		p.P132L(1)		endometrium(1)|kidney(2)|large_intestine(1)|lung(2)	6	all_lung(13;0.000354)|Lung NSC(42;0.00115)			UCEC - Uterine corpus endometrioid carcinoma (53;0.153)		TGGCATTTGGGGATCCCAGGG	0.582																																						uc010wai.1																			1	Substitution - Missense(1)		lung(1)		0						c.(394-396)CCC>CTC		SEBOX homeobox isoform 1							45.0	50.0	48.0					17																	26691546		2027	4183	6210	SO:0001628	intergenic_variant	645832				cell differentiation|multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr17:26691546G>A	AY074907	CCDS11228.1	17q11.2	2007-12-17	2007-12-17	2007-12-17	ENSG00000244045	ENSG00000244045			18085	protein-coding gene	gene with protein product			"""chromosome 17 open reading frame 32"""	C17orf32			Standard	NM_152464		Approved	MGC45714	uc002hba.3	Q8N511	OTTHUMG00000132498		17.37:g.26691546G>A						SARM1_uc010wah.1_Intron|SEBOX_uc010crk.1_Missense_Mutation_p.P131L|SARM1_uc010waj.1_Intron	p.P132L	NM_001080837	NP_001074306	Q9HB31	SEBOX_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (53;0.153)	3	409	-	all_lung(13;0.000354)|Lung NSC(42;0.00115)		132						Missense_Mutation	SNP	ENST00000292114.3	37	c.395C>T	CCDS11228.1	.	.	.	.	.	.	.	.	.	.	G	10.80	1.451532	0.26074	.	.	ENSG00000109072;ENSG00000109072;ENSG00000109072;ENSG00000109072;ENSG00000258852	ENST00000431468;ENST00000536498;ENST00000438614;ENST00000247029;ENST00000555059	D;D;D	0.93019	-3.1;-3.15;-3.15	4.36	3.36	0.38483	.	0.393472	0.22027	N	0.065647	D	0.87653	0.6231	L	0.34521	1.04	0.09310	N	0.999998	B;B	0.21905	0.062;0.025	B;B	0.18871	0.023;0.013	T	0.79938	-0.1592	10	0.54805	T	0.06	.	9.2833	0.37742	0.165:0.0:0.835:0.0	.	132;131	Q9HB31;C9JDG5	SEBOX_HUMAN;.	L	132;131;131;136;157	ENSP00000416240:P132L;ENSP00000444503:P131L;ENSP00000395142:P131L	ENSP00000247029:P136L	P	-	2	0	VTN;CTB-96E2.2	23715673	0.911000	0.30947	0.031000	0.17742	0.029000	0.11900	1.756000	0.38390	2.268000	0.75426	0.561000	0.74099	CCC		PASS	0.582	TMEM199-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255676.2	NM_152464		31	25	31	25	---	---	---	---
KIAA0100	9703	broad.mit.edu	37	17	26970223	26970224	+	Nonsense_Mutation	DNP	CC	CC	AA			TCGA-66-2756-01A-01D-1522-08	TCGA-66-2756-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	472c95e6-eccb-4988-be16-fdace73b2ed8	ff4f5936-f847-42ad-aedf-6a6a7fff6002	g.chr17:26970223_26970224CC>AA	ENST00000528896.2	-	4	428_429	c.354_355GG>TT	c.(352-357)aaGGaa>aaTTaa	p.118_119KE>N*	KIAA0100_ENST00000544884.1_5'UTR|KIAA0100_ENST00000389003.3_5'UTR	NM_014680.3	NP_055495.2	Q14667	K0100_HUMAN	KIAA0100	118						extracellular region (GO:0005576)		p.K118_E119>N*(1)|p.K118N(1)|p.E119*(1)		breast(3)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(23)|ovary(2)|prostate(2)|skin(6)|stomach(2)|urinary_tract(3)	68	Lung NSC(42;0.00431)					AAGGACAGTTCCTTTTGATCCA	0.49																																						uc002hbu.2																			3	Substitution - Nonsense(1)|Substitution - Missense(1)|Complex - compound substitution(1)		lung(3)	ovary(2)|breast(1)|skin(1)	4						c.(355-357)GAA>TAA|c.(352-354)AAG>AAT		hypothetical protein LOC9703 precursor																																				SO:0001587	stop_gained	9703					extracellular region		g.chr17:26970223C>A|g.chr17:26970224C>A	D43947	CCDS32595.1	17q11.2	2012-11-29			ENSG00000007202	ENSG00000007202			28960	protein-coding gene	gene with protein product	"""cancer/testis antigen 101"", ""breast cancer overexpressed gene 1"""	610664				16289875	Standard	NM_014680		Approved	DKFZp686M0843, MGC111488, BCOX1, CT101, BCOX	uc002hbu.3	Q14667	OTTHUMG00000166587	ENST00000528896.2:c.354_355delinsAA	17.37:g.26970223_26970224delinsAA	ENSP00000436773:p.K118_E119delinsN*					KIAA0100_uc002hbv.2_Nonsense_Mutation_p.E119*|KIAA0100_uc010crr.1_5'UTR|KIAA0100_uc002hbv.2_Missense_Mutation_p.K118N|KIAA0100_uc010crr.1_Translation_Start_Site	p.E119*|p.K118N	NM_014680	NP_055495	Q14667	K0100_HUMAN			4	454|453	-	Lung NSC(42;0.00431)		119|118					A6NCX3|Q3SYN5|Q49A07|Q5H9T4|Q6WG74|Q6ZP51|Q96HH8	Nonsense_Mutation|Missense_Mutation	SNP	ENST00000528896.2	37	c.355G>T|c.354G>T	CCDS32595.1																																																																																				PASS	0.490	KIAA0100-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390571.3	NM_014680		96	134|137	96	134	---	---	---	---
NF1	4763	broad.mit.edu	37	17	29541520	29541520	+	Missense_Mutation	SNP	A	A	G			TCGA-66-2756-01A-01D-1522-08	TCGA-66-2756-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	472c95e6-eccb-4988-be16-fdace73b2ed8	ff4f5936-f847-42ad-aedf-6a6a7fff6002	g.chr17:29541520A>G	ENST00000358273.4	+	13	1827	c.1444A>G	c.(1444-1446)Aca>Gca	p.T482A	NF1_ENST00000431387.4_Missense_Mutation_p.T482A|NF1_ENST00000356175.3_Missense_Mutation_p.T482A	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	482					actin cytoskeleton organization (GO:0030036)|adrenal gland development (GO:0030325)|artery morphogenesis (GO:0048844)|brain development (GO:0007420)|camera-type eye morphogenesis (GO:0048593)|cell communication (GO:0007154)|cerebral cortex development (GO:0021987)|cognition (GO:0050890)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|forebrain astrocyte development (GO:0021897)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|liver development (GO:0001889)|MAPK cascade (GO:0000165)|metanephros development (GO:0001656)|myelination in peripheral nervous system (GO:0022011)|negative regulation of angiogenesis (GO:0016525)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of cell migration (GO:0030336)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of neurotransmitter secretion (GO:0046929)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of Rac protein signal transduction (GO:0035021)|negative regulation of Ras protein signal transduction (GO:0046580)|negative regulation of transcription factor import into nucleus (GO:0042992)|neural tube development (GO:0021915)|osteoblast differentiation (GO:0001649)|peripheral nervous system development (GO:0007422)|phosphatidylinositol 3-kinase signaling (GO:0014065)|pigmentation (GO:0043473)|positive regulation of adenylate cyclase activity (GO:0045762)|positive regulation of apoptotic process (GO:0043065)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of Ras GTPase activity (GO:0032320)|Ras protein signal transduction (GO:0007265)|regulation of angiogenesis (GO:0045765)|regulation of blood vessel endothelial cell migration (GO:0043535)|regulation of bone resorption (GO:0045124)|regulation of cell-matrix adhesion (GO:0001952)|regulation of glial cell differentiation (GO:0045685)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of Ras GTPase activity (GO:0032318)|regulation of synaptic transmission, GABAergic (GO:0032228)|response to hypoxia (GO:0001666)|Schwann cell development (GO:0014044)|skeletal muscle tissue development (GO:0007519)|smooth muscle tissue development (GO:0048745)|spinal cord development (GO:0021510)|sympathetic nervous system development (GO:0048485)|visual learning (GO:0008542)|wound healing (GO:0042060)	axon (GO:0030424)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|membrane (GO:0016020)|nucleus (GO:0005634)	phosphatidylcholine binding (GO:0031210)|phosphatidylethanolamine binding (GO:0008429)|Ras GTPase activator activity (GO:0005099)	p.0?(8)|p.?(5)|p.T482A(2)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		AGAAAAACCTACAGACCTGGA	0.313			"""D, Mis, N, F, S, O"""		"""neurofibroma, glioma"""	"""neurofibroma, glioma"""			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)																												uc002hgg.2			yes	Rec	yes	Neurofibromatosis type 1	17	17q12	4763	D|Mis|N|F|S|O	neurofibromatosis type 1 gene			O		neurofibroma|glioma	neurofibroma|glioma		15	Whole gene deletion(8)|Unknown(5)|Substitution - Missense(2)	p.?(2)	soft_tissue(7)|lung(3)|autonomic_ganglia(3)|central_nervous_system(2)	soft_tissue(159)|central_nervous_system(56)|lung(28)|large_intestine(27)|haematopoietic_and_lymphoid_tissue(18)|ovary(18)|autonomic_ganglia(12)|breast(3)|skin(3)|stomach(2)|thyroid(1)|prostate(1)|kidney(1)|pancreas(1)	330						c.(1444-1446)ACA>GCA		neurofibromin isoform 1							36.0	38.0	37.0					17																	29541520		2201	4298	6499	SO:0001583	missense	4763	Neurofibromatosis_type_1	Familial Cancer Database	NF1, von Recklinghausen disease, incl.: Hereditary Spinal Neurofibromatosis, Neurofibromatosis-Noonan syndrome	actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	g.chr17:29541520A>G		CCDS11264.1, CCDS42292.1, CCDS45645.1	17q11.2	2014-09-17	2008-07-31		ENSG00000196712	ENSG00000196712			7765	protein-coding gene	gene with protein product	"""neurofibromatosis"", ""von Recklinghausen disease"", ""Watson disease"""	613113				1715669	Standard	NM_000267		Approved		uc002hgg.3	P21359	OTTHUMG00000132871	ENST00000358273.4:c.1444A>G	17.37:g.29541520A>G	ENSP00000351015:p.Thr482Ala	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)				NF1_uc002hge.1_Missense_Mutation_p.T482A|NF1_uc002hgf.1_Missense_Mutation_p.T482A|NF1_uc002hgh.2_Missense_Mutation_p.T482A|NF1_uc010csn.1_Missense_Mutation_p.T342A	p.T482A	NM_001042492	NP_001035957	P21359	NF1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)	13	1777	+		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)	482					O00662|Q14284|Q14930|Q14931|Q9UMK3	Missense_Mutation	SNP	ENST00000358273.4	37	c.1444A>G	CCDS42292.1	.	.	.	.	.	.	.	.	.	.	A	10.82	1.458207	0.26161	.	.	ENSG00000196712	ENST00000431387;ENST00000358273;ENST00000356175;ENST00000456735	T;T;T;T	0.09911	2.93;3.21;3.35;3.04	5.33	5.33	0.75918	Armadillo-type fold (1);	0.054930	0.64402	D	0.000001	T	0.06508	0.0167	N	0.20685	0.6	0.80722	D	1	B;B;B;B;B	0.06786	0.0;0.001;0.0;0.001;0.0	B;B;B;B;B	0.09377	0.001;0.004;0.001;0.002;0.001	T	0.29243	-1.0018	10	0.10377	T	0.69	.	9.7712	0.40591	0.923:0.0:0.077:0.0	.	482;482;482;482;482	E1P657;P21359-2;P21359;Q14931;P21359-3	.;.;NF1_HUMAN;.;.	A	482;482;482;148	ENSP00000412921:T482A;ENSP00000351015:T482A;ENSP00000348498:T482A;ENSP00000389907:T148A	ENSP00000348498:T482A	T	+	1	0	NF1	26565646	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.791000	0.69045	2.017000	0.59298	0.482000	0.46254	ACA		PASS	0.313	NF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256351.2	NM_000267		28	56	28	56	---	---	---	---
NF1	4763	broad.mit.edu	37	17	29676265	29676265	+	Missense_Mutation	SNP	A	A	T			TCGA-66-2756-01A-01D-1522-08	TCGA-66-2756-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	472c95e6-eccb-4988-be16-fdace73b2ed8	ff4f5936-f847-42ad-aedf-6a6a7fff6002	g.chr17:29676265A>T	ENST00000358273.4	+	49	7700	c.7317A>T	c.(7315-7317)ttA>ttT	p.L2439F	NF1_ENST00000356175.3_Missense_Mutation_p.L2418F|NF1_ENST00000417592.2_Missense_Mutation_p.L152F|NF1_ENST00000444181.2_Missense_Mutation_p.L232F	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	2439					actin cytoskeleton organization (GO:0030036)|adrenal gland development (GO:0030325)|artery morphogenesis (GO:0048844)|brain development (GO:0007420)|camera-type eye morphogenesis (GO:0048593)|cell communication (GO:0007154)|cerebral cortex development (GO:0021987)|cognition (GO:0050890)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|forebrain astrocyte development (GO:0021897)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|liver development (GO:0001889)|MAPK cascade (GO:0000165)|metanephros development (GO:0001656)|myelination in peripheral nervous system (GO:0022011)|negative regulation of angiogenesis (GO:0016525)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of cell migration (GO:0030336)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of neurotransmitter secretion (GO:0046929)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of Rac protein signal transduction (GO:0035021)|negative regulation of Ras protein signal transduction (GO:0046580)|negative regulation of transcription factor import into nucleus (GO:0042992)|neural tube development (GO:0021915)|osteoblast differentiation (GO:0001649)|peripheral nervous system development (GO:0007422)|phosphatidylinositol 3-kinase signaling (GO:0014065)|pigmentation (GO:0043473)|positive regulation of adenylate cyclase activity (GO:0045762)|positive regulation of apoptotic process (GO:0043065)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of Ras GTPase activity (GO:0032320)|Ras protein signal transduction (GO:0007265)|regulation of angiogenesis (GO:0045765)|regulation of blood vessel endothelial cell migration (GO:0043535)|regulation of bone resorption (GO:0045124)|regulation of cell-matrix adhesion (GO:0001952)|regulation of glial cell differentiation (GO:0045685)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of Ras GTPase activity (GO:0032318)|regulation of synaptic transmission, GABAergic (GO:0032228)|response to hypoxia (GO:0001666)|Schwann cell development (GO:0014044)|skeletal muscle tissue development (GO:0007519)|smooth muscle tissue development (GO:0048745)|spinal cord development (GO:0021510)|sympathetic nervous system development (GO:0048485)|visual learning (GO:0008542)|wound healing (GO:0042060)	axon (GO:0030424)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|membrane (GO:0016020)|nucleus (GO:0005634)	phosphatidylcholine binding (GO:0031210)|phosphatidylethanolamine binding (GO:0008429)|Ras GTPase activator activity (GO:0005099)	p.0?(8)|p.?(3)|p.L2439F(2)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		TGGCCTACTTAGCAGGTAAAA	0.338			"""D, Mis, N, F, S, O"""		"""neurofibroma, glioma"""	"""neurofibroma, glioma"""			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)																												uc002hgg.2			yes	Rec	yes	Neurofibromatosis type 1	17	17q12	4763	D|Mis|N|F|S|O	neurofibromatosis type 1 gene			O		neurofibroma|glioma	neurofibroma|glioma		13	Whole gene deletion(8)|Unknown(3)|Substitution - Missense(2)		soft_tissue(7)|lung(3)|autonomic_ganglia(2)|central_nervous_system(1)	soft_tissue(159)|central_nervous_system(56)|lung(28)|large_intestine(27)|haematopoietic_and_lymphoid_tissue(18)|ovary(18)|autonomic_ganglia(12)|breast(3)|skin(3)|stomach(2)|thyroid(1)|prostate(1)|kidney(1)|pancreas(1)	330						c.(7315-7317)TTA>TTT		neurofibromin isoform 1							69.0	63.0	65.0					17																	29676265		2203	4300	6503	SO:0001583	missense	4763	Neurofibromatosis_type_1	Familial Cancer Database	NF1, von Recklinghausen disease, incl.: Hereditary Spinal Neurofibromatosis, Neurofibromatosis-Noonan syndrome	actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	g.chr17:29676265A>T		CCDS11264.1, CCDS42292.1, CCDS45645.1	17q11.2	2014-09-17	2008-07-31		ENSG00000196712	ENSG00000196712			7765	protein-coding gene	gene with protein product	"""neurofibromatosis"", ""von Recklinghausen disease"", ""Watson disease"""	613113				1715669	Standard	NM_000267		Approved		uc002hgg.3	P21359	OTTHUMG00000132871	ENST00000358273.4:c.7317A>T	17.37:g.29676265A>T	ENSP00000351015:p.Leu2439Phe	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)				NF1_uc002hgh.2_Missense_Mutation_p.L2418F|NF1_uc010cso.2_Missense_Mutation_p.L627F|NF1_uc010wbt.1_5'UTR|NF1_uc010wbu.1_RNA	p.L2439F	NM_001042492	NP_001035957	P21359	NF1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)	49	7650	+		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)	2439					O00662|Q14284|Q14930|Q14931|Q9UMK3	Missense_Mutation	SNP	ENST00000358273.4	37	c.7317A>T	CCDS42292.1	.	.	.	.	.	.	.	.	.	.	A	17.73	3.461649	0.63513	.	.	ENSG00000196712	ENST00000358273;ENST00000356175;ENST00000456735;ENST00000444181;ENST00000417592	T;T;T;T	0.69175	2.13;2.29;1.97;-0.38	5.78	-2.17	0.07059	Armadillo-type fold (1);	0.153953	0.42420	N	0.000706	T	0.73218	0.3559	M	0.79123	2.44	0.53005	D	0.999964	B;D	0.89917	0.001;1.0	B;D	0.76071	0.004;0.987	T	0.67280	-0.5710	10	0.39692	T	0.17	.	3.5652	0.07897	0.2933:0.2133:0.3895:0.1039	.	2418;2439	P21359-2;P21359	.;NF1_HUMAN	F	2439;2418;2084;232;152	ENSP00000351015:L2439F;ENSP00000348498:L2418F;ENSP00000389907:L2084F;ENSP00000396481:L232F	ENSP00000348498:L2418F	L	+	3	2	NF1	26700391	0.993000	0.37304	0.147000	0.22382	0.980000	0.70556	0.348000	0.20031	-0.748000	0.04753	-0.250000	0.11733	TTA		PASS	0.338	NF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256351.2	NM_000267		19	28	19	28	---	---	---	---
RHOT1	55288	broad.mit.edu	37	17	30526045	30526045	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2756-01A-01D-1522-08	TCGA-66-2756-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	472c95e6-eccb-4988-be16-fdace73b2ed8	ff4f5936-f847-42ad-aedf-6a6a7fff6002	g.chr17:30526045G>T	ENST00000333942.6	+	12	1188	c.949G>T	c.(949-951)Gat>Tat	p.D317Y	RHOT1_ENST00000581094.1_Missense_Mutation_p.D317Y|RHOT1_ENST00000394692.2_Missense_Mutation_p.D317Y|RHOT1_ENST00000583994.1_Missense_Mutation_p.D190Y|RHOT1_ENST00000580976.1_3'UTR|RHOT1_ENST00000354266.3_Missense_Mutation_p.D296Y|RHOT1_ENST00000545287.2_Missense_Mutation_p.D317Y|RHOT1_ENST00000358365.3_Missense_Mutation_p.D317Y	NM_018307.3	NP_060777.3	Q8IXI2	MIRO1_HUMAN	ras homolog family member T1	317	EF-hand 2. {ECO:0000255|PROSITE- ProRule:PRU00448}.				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.D317Y(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)				TGACAAGCATGATTTGGTAAG	0.328																																						uc002hgz.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|central_nervous_system(1)	4						c.(949-951)GAT>TAT		ras homolog gene family, member T1 isoform 3							63.0	62.0	62.0					17																	30526045		2202	4296	6498	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.chr17:30526045G>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.949G>T	17.37:g.30526045G>T	ENSP00000334724:p.Asp317Tyr					RHOT1_uc002hgw.2_Missense_Mutation_p.D317Y|RHOT1_uc002hgy.2_Missense_Mutation_p.D317Y|RHOT1_uc002hha.2_Missense_Mutation_p.D190Y|RHOT1_uc010csv.2_RNA|RHOT1_uc002hgx.2_Missense_Mutation_p.D190Y|RHOT1_uc010wby.1_Missense_Mutation_p.D317Y|RHOT1_uc002hhb.2_Missense_Mutation_p.D296Y|RHOT1_uc002hgv.2_Missense_Mutation_p.D317Y	p.D317Y	NM_018307	NP_060777	Q8IXI2	MIRO1_HUMAN			12	1188	+		Myeloproliferative disorder(56;0.0255)|Breast(31;0.116)|Ovarian(249;0.182)	317			EF-hand 2.|2 (Probable).|Mitochondrial intermembrane (Potential).		A4FVB6|A6NFV0|B4DG48|J9JIH9|Q6NUR3|Q6P9F8|Q6PJG1|Q6YMW8|Q86UB0|Q8IW28|Q8IXJ7|Q9H067|Q9H9N8|Q9NUZ2	Missense_Mutation	SNP	ENST00000333942.6	37	c.949G>T	CCDS32612.1	.	.	.	.	.	.	.	.	.	.	G	15.41	2.826552	0.50739	.	.	ENSG00000126858	ENST00000358365;ENST00000354266;ENST00000394692;ENST00000333942	T;D;D	0.90004	1.46;-2.6;-2.6	5.56	5.56	0.83823	EF-hand-like domain (1);	0.000000	0.85682	D	0.000000	D	0.95781	0.8627	M	0.90595	3.13	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.998;1.0;1.0;1.0	D	0.96223	0.9162	10	0.87932	D	0	-13.0432	19.5295	0.95223	0.0:0.0:1.0:0.0	.	317;317;317;317	Q8IXI2-2;Q8IXI2;Q8IXI2-5;Q8IXI2-3	.;MIRO1_HUMAN;.;.	Y	317	ENSP00000351132:D317Y;ENSP00000378184:D317Y;ENSP00000334724:D317Y	ENSP00000334724:D317Y	D	+	1	0	RHOT1	27550158	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.487000	0.97945	2.598000	0.87819	0.650000	0.86243	GAT		PASS	0.328	RHOT1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000447097.1	NM_018307		117	92	117	92	---	---	---	---
SLC35G3	146861	broad.mit.edu	37	17	33520727	33520727	+	Silent	SNP	G	G	T	rs147862619		TCGA-66-2756-01A-01D-1522-08	TCGA-66-2756-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	472c95e6-eccb-4988-be16-fdace73b2ed8	ff4f5936-f847-42ad-aedf-6a6a7fff6002	g.chr17:33520727G>T	ENST00000297307.5	-	1	685	c.600C>A	c.(598-600)ggC>ggA	p.G200G	RP11-799D4.2_ENST00000590144.1_RNA	NM_152462.2	NP_689675.1	Q8N808	S35G3_HUMAN	solute carrier family 35, member G3	200						integral component of membrane (GO:0016021)		p.G200G(1)									ACAGCGCCAGGCCTCCCAGGA	0.602																																						uc002hjd.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(598-600)GGC>GGA		acyl-malonyl condensing enzyme 1		G		0,4406		0,0,2203	97.0	104.0	102.0		600		0.1	17	dbSNP_134	102	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	SLC35G3	NM_152462.2		0,1,6502	TT,TG,GG		0.0116,0.0,0.0077		200/339	33520727	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	146861					integral to membrane		g.chr17:33520727G>T	AK097473	CCDS11293.1	17q21.1	2013-05-22	2011-08-03	2011-08-03	ENSG00000164729	ENSG00000164729		"""Solute carriers"""	26848	protein-coding gene	gene with protein product			"""transmembrane protein 21A"", ""acyl-malonyl condensing enzyme 1"""	TMEM21A, AMAC1			Standard	NM_152462		Approved	FLJ40154	uc002hjd.2	Q8N808	OTTHUMG00000132929	ENST00000297307.5:c.600C>A	17.37:g.33520727G>T							p.G200G	NM_152462	NP_689675	Q8N808	AMAC1_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.0917)	1	686	-			200			Helical; (Potential).		B9EGE9	Silent	SNP	ENST00000297307.5	37	c.600C>A	CCDS11293.1																																																																																				PASS	0.602	SLC35G3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256445.2	NM_152462		65	119	65	119	---	---	---	---
KRTAP3-3	85293	broad.mit.edu	37	17	39150267	39150267	+	Missense_Mutation	SNP	C	C	A	rs369870393		TCGA-66-2756-01A-01D-1522-08	TCGA-66-2756-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	472c95e6-eccb-4988-be16-fdace73b2ed8	ff4f5936-f847-42ad-aedf-6a6a7fff6002	g.chr17:39150267C>A	ENST00000391586.1	-	1	118	c.83G>T	c.(82-84)tGt>tTt	p.C28F		NM_033185.2	NP_149441.1	Q9BYR6	KRA33_HUMAN	keratin associated protein 3-3	28	3 X 5 AA repeats of C-C-X(3).					keratin filament (GO:0045095)	structural molecule activity (GO:0005198)	p.C28F(1)		lung(2)|prostate(2)	4		Breast(137;0.00043)				GCAGACTCCACAGCGGCAGGA	0.612																																						uc002hvr.1																			1	Substitution - Missense(1)		lung(1)		0						c.(82-84)TGT>TTT		keratin associated protein 3-3							94.0	90.0	91.0					17																	39150267		2203	4296	6499	SO:0001583	missense	85293					keratin filament	structural molecule activity	g.chr17:39150267C>A	AJ406933	CCDS32643.1	17q21.2	2013-06-25			ENSG00000212899	ENSG00000212899		"""Keratin associated proteins"""	18890	protein-coding gene	gene with protein product						11279113	Standard	NM_033185		Approved	KAP3.3	uc002hvr.1	Q9BYR6	OTTHUMG00000133591	ENST00000391586.1:c.83G>T	17.37:g.39150267C>A	ENSP00000375428:p.Cys28Phe						p.C28F	NM_033185	NP_149441	Q9BYR6	KRA33_HUMAN			1	119	-		Breast(137;0.00043)	28			3 X 5 AA repeats of C-C-X(3).		Q52LP0|Q6NTD4	Missense_Mutation	SNP	ENST00000391586.1	37	c.83G>T	CCDS32643.1	.	.	.	.	.	.	.	.	.	.	C	14.54	2.565928	0.45694	.	.	ENSG00000212899	ENST00000391586	T	0.33654	1.4	5.62	5.62	0.85841	.	0.000000	0.64402	D	0.000006	T	0.60894	0.2304	.	.	.	0.32379	N	0.554779	D	0.69078	0.997	D	0.83275	0.996	T	0.70680	-0.4805	9	0.87932	D	0	.	15.232	0.73398	0.0:1.0:0.0:0.0	.	28	Q9BYR6	KRA33_HUMAN	F	28	ENSP00000375428:C28F	ENSP00000375428:C28F	C	-	2	0	KRTAP3-3	36403793	0.927000	0.31430	0.236000	0.24074	0.363000	0.29612	3.511000	0.53400	2.652000	0.90054	0.650000	0.86243	TGT		PASS	0.612	KRTAP3-3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257695.1			79	77	79	77	---	---	---	---
LEPREL4	10609	broad.mit.edu	37	17	39959557	39959557	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2756-01A-01D-1522-08	TCGA-66-2756-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	472c95e6-eccb-4988-be16-fdace73b2ed8	ff4f5936-f847-42ad-aedf-6a6a7fff6002	g.chr17:39959557C>G	ENST00000355468.3	-	8	1739	c.1273G>C	c.(1273-1275)Ggt>Cgt	p.G425R	LEPREL4_ENST00000393928.1_Missense_Mutation_p.G425R			Q92791	SC65_HUMAN	leprecan-like 4	425	Asp/Glu-rich (acidic).				synaptonemal complex assembly (GO:0007130)	condensed nuclear chromosome (GO:0000794)|nucleolus (GO:0005730)|synaptonemal complex (GO:0000795)		p.G425R(1)		endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|urinary_tract(1)	8						GCCTCGTCACCCTTGGCATCC	0.642																																						uc002hxt.2																			1	Substitution - Missense(1)		lung(1)		0						c.(1273-1275)GGT>CGT		synaptonemal complex protein SC65							159.0	120.0	133.0					17																	39959557		2203	4300	6503	SO:0001583	missense	10609				synaptonemal complex assembly	nucleolus|synaptonemal complex	binding	g.chr17:39959557C>G	BC001047	CCDS11408.1	17q12	2013-05-03	2002-08-29		ENSG00000141696	ENSG00000141696			16946	protein-coding gene	gene with protein product			"""nucleolar autoantigen (55kD)"", ""rat synaptonemal complex protein"""			8862517	Standard	NM_006455		Approved	SC65, NO55	uc002hxt.3	Q92791	OTTHUMG00000133501	ENST00000355468.3:c.1273G>C	17.37:g.39959557C>G	ENSP00000347649:p.Gly425Arg					SC65_uc002hxu.2_Missense_Mutation_p.G516R	p.G425R	NM_006455	NP_006446	Q92791	SC65_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.149)	7	1557	-		Breast(137;0.000162)	425			Asp/Glu-rich (acidic).		Q53GI6|Q9H4F6	Missense_Mutation	SNP	ENST00000355468.3	37	c.1273G>C	CCDS11408.1	.	.	.	.	.	.	.	.	.	.	C	14.84	2.656431	0.47467	.	.	ENSG00000141696	ENST00000355468;ENST00000393928;ENST00000545545	T;T	0.39229	1.09;1.09	5.78	4.82	0.62117	.	0.056069	0.64402	D	0.000001	T	0.51398	0.1672	L	0.32530	0.975	0.49389	D	0.999784	D;D	0.71674	0.998;0.998	D;D	0.66351	0.943;0.943	T	0.54997	-0.8209	10	0.72032	D	0.01	-22.27	13.7062	0.62641	0.0:0.9256:0.0:0.0744	.	414;425	B4DVZ5;Q92791	.;SC65_HUMAN	R	425;425;414	ENSP00000347649:G425R;ENSP00000377505:G425R	ENSP00000347649:G425R	G	-	1	0	LEPREL4	37213083	1.000000	0.71417	0.996000	0.52242	0.476000	0.33039	4.606000	0.61126	1.486000	0.48398	0.638000	0.83543	GGT		PASS	0.642	LEPREL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257439.2			18	85	18	85	---	---	---	---
KCNH4	23415	broad.mit.edu	37	17	40330849	40330849	+	Missense_Mutation	SNP	T	T	C			TCGA-66-2756-01A-01D-1522-08	TCGA-66-2756-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	472c95e6-eccb-4988-be16-fdace73b2ed8	ff4f5936-f847-42ad-aedf-6a6a7fff6002	g.chr17:40330849T>C	ENST00000264661.3	-	2	604	c.272A>G	c.(271-273)cAg>cGg	p.Q91R	KCNH4_ENST00000607371.1_Missense_Mutation_p.Q91R	NM_012285.2	NP_036417.1	Q9UQ05	KCNH4_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 4	91					potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	phosphorelay sensor kinase activity (GO:0000155)|voltage-gated potassium channel activity (GO:0005249)	p.Q91R(1)		autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(15)|skin(2)|urinary_tract(1)	32		all_cancers(22;1.24e-06)|all_epithelial(22;4.33e-05)|Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.126)		CCGGTGCTCCTGGTGGCCCTC	0.627																																					NSCLC(117;707 1703 2300 21308 31858)	uc002hzb.2																			1	Substitution - Missense(1)		lung(1)	large_intestine(1)	1						c.(271-273)CAG>CGG		potassium voltage-gated channel, subfamily H,							49.0	51.0	50.0					17																	40330849		2203	4300	6503	SO:0001583	missense	23415				regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	two-component sensor activity|voltage-gated potassium channel activity	g.chr17:40330849T>C	AB022698	CCDS11420.1	17q21	2012-07-05				ENSG00000089558		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6253	protein-coding gene	gene with protein product		604528				10455180, 16382104	Standard	NM_012285		Approved	Kv12.3, elk1	uc002hzb.2	Q9UQ05		ENST00000264661.3:c.272A>G	17.37:g.40330849T>C	ENSP00000264661:p.Gln91Arg						p.Q91R	NM_012285	NP_036417	Q9UQ05	KCNH4_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.126)	2	605	-		all_cancers(22;1.24e-06)|all_epithelial(22;4.33e-05)|Breast(137;0.000143)	91			Cytoplasmic (Potential).			Missense_Mutation	SNP	ENST00000264661.3	37	c.272A>G	CCDS11420.1	.	.	.	.	.	.	.	.	.	.	T	12.01	1.808139	0.31961	.	.	ENSG00000089558	ENST00000264661	D	0.99541	-6.12	4.88	4.88	0.63580	PAS fold-3 (1);PAS (1);	0.000000	0.38720	N	0.001599	D	0.96830	0.8965	N	0.04994	-0.135	0.32740	N	0.507869	B	0.24186	0.099	B	0.21708	0.036	D	0.98559	1.0640	10	0.33940	T	0.23	.	9.2159	0.37346	0.0:0.0808:0.0:0.9192	.	91	Q9UQ05	KCNH4_HUMAN	R	91	ENSP00000264661:Q91R	ENSP00000264661:Q91R	Q	-	2	0	KCNH4	37584375	1.000000	0.71417	1.000000	0.80357	0.958000	0.62258	3.372000	0.52387	2.044000	0.60594	0.460000	0.39030	CAG		PASS	0.627	KCNH4-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449791.2	NM_012285		29	82	29	82	---	---	---	---
RAMP2	10266	broad.mit.edu	37	17	40913878	40913878	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2756-01A-01D-1522-08	TCGA-66-2756-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	472c95e6-eccb-4988-be16-fdace73b2ed8	ff4f5936-f847-42ad-aedf-6a6a7fff6002	g.chr17:40913878G>T	ENST00000253796.5	+	2	192	c.124G>T	c.(124-126)Gct>Tct	p.A42S	RAMP2_ENST00000589683.1_5'UTR|RAMP2_ENST00000588576.1_Missense_Mutation_p.A42S|RAMP2_ENST00000587142.1_Missense_Mutation_p.A42S|RAMP2-AS1_ENST00000592670.1_lincRNA|RAMP2_ENST00000591972.1_3'UTR	NM_005854.2	NP_005845.2	O60895	RAMP2_HUMAN	receptor (G protein-coupled) activity modifying protein 2	42					adherens junction assembly (GO:0034333)|angiogenesis (GO:0001525)|basement membrane assembly (GO:0070831)|calcium ion transport (GO:0006816)|cAMP biosynthetic process (GO:0006171)|cellular response to hormone stimulus (GO:0032870)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|female pregnancy (GO:0007565)|G-protein coupled receptor signaling pathway (GO:0007186)|heart development (GO:0007507)|intracellular protein transport (GO:0006886)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of vascular permeability (GO:0043116)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of gene expression (GO:0010628)|positive regulation of vasculogenesis (GO:2001214)|protein localization to plasma membrane (GO:0072659)|protein transport (GO:0015031)|receptor internalization (GO:0031623)|regulation of blood pressure (GO:0008217)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|response to estradiol (GO:0032355)|response to hypoxia (GO:0001666)|response to progesterone (GO:0032570)|sprouting angiogenesis (GO:0002040)|tight junction assembly (GO:0070830)|vascular smooth muscle cell development (GO:0097084)|vasculogenesis (GO:0001570)	cell surface (GO:0009986)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	coreceptor activity (GO:0015026)|protein transporter activity (GO:0008565)	p.A42S(1)		endometrium(2)|lung(1)|stomach(1)	4		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.0741)	Pramlintide(DB01278)	CGAGGCCCTGGCTCAGCCTCT	0.647																																						uc002ibg.2																			1	Substitution - Missense(1)		lung(1)		0						c.(124-126)GCT>TCT		receptor activity modifying protein 2 precursor	Pramlintide(DB01278)						57.0	48.0	51.0					17																	40913878		2203	4300	6503	SO:0001583	missense	10266				intracellular protein transport|receptor-mediated endocytosis|regulation of G-protein coupled receptor protein signaling pathway	coated pit|integral to plasma membrane|lysosome	protein transporter activity	g.chr17:40913878G>T	AJ001015	CCDS11437.1	17q12-q21.1	2012-08-17	2006-11-21		ENSG00000131477	ENSG00000131477		"""Receptor (G protein-coupled) activity modifying proteins"""	9844	protein-coding gene	gene with protein product		605154	"""receptor activity modifying protein 2"", ""receptor (calcitonin) activity modifying protein 2"""				Standard	NM_005854		Approved		uc002ibg.3	O60895		ENST00000253796.5:c.124G>T	17.37:g.40913878G>T	ENSP00000253796:p.Ala42Ser					LOC100190938_uc002ibd.1_5'Flank|LOC100190938_uc002ibe.3_5'Flank|LOC100190938_uc002ibf.3_5'Flank|RAMP2_uc010cyt.2_Missense_Mutation_p.A42S|RAMP2_uc002ibh.2_Missense_Mutation_p.A42S	p.A42S	NM_005854	NP_005845	O60895	RAMP2_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.0741)	2	192	+		Breast(137;0.000143)	42					A7L9S6|K7EMD3|Q8N1F2	Missense_Mutation	SNP	ENST00000253796.5	37	c.124G>T	CCDS11437.1	.	.	.	.	.	.	.	.	.	.	G	17.70	3.455149	0.63401	.	.	ENSG00000131477	ENST00000253796	T	0.25250	1.81	4.29	2.17	0.27698	.	1.902170	0.02819	N	0.125345	T	0.21631	0.0521	L	0.59436	1.845	0.09310	N	1	P;P;B	0.48834	0.916;0.916;0.079	B;B;B	0.38842	0.283;0.283;0.025	T	0.24297	-1.0164	10	0.09590	T	0.72	-41.4178	3.2828	0.06921	0.2242:0.0:0.5674:0.2084	.	42;42;42	E7EM49;A7L9S6;O60895	.;.;RAMP2_HUMAN	S	42	ENSP00000253796:A42S	ENSP00000253796:A42S	A	+	1	0	RAMP2	38167404	0.658000	0.27402	0.662000	0.29724	0.553000	0.35397	1.027000	0.30115	0.489000	0.27749	0.467000	0.42956	GCT		PASS	0.647	RAMP2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000452380.1	NM_005854		12	27	12	27	---	---	---	---
BRCA1	672	broad.mit.edu	37	17	41246004	41246004	+	Missense_Mutation	SNP	T	T	A	rs397508881		TCGA-66-2756-01A-01D-1522-08	TCGA-66-2756-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	472c95e6-eccb-4988-be16-fdace73b2ed8	ff4f5936-f847-42ad-aedf-6a6a7fff6002	g.chr17:41246004T>A	ENST00000357654.3	-	10	1662	c.1544A>T	c.(1543-1545)gAg>gTg	p.E515V	BRCA1_ENST00000468300.1_Intron|BRCA1_ENST00000346315.3_Missense_Mutation_p.E515V|BRCA1_ENST00000591534.1_Intron|BRCA1_ENST00000352993.3_Intron|BRCA1_ENST00000493795.1_Missense_Mutation_p.E468V|BRCA1_ENST00000591849.1_Intron|BRCA1_ENST00000586385.1_Intron|BRCA1_ENST00000354071.3_Missense_Mutation_p.E515V|BRCA1_ENST00000491747.2_Intron|BRCA1_ENST00000471181.2_Missense_Mutation_p.E515V|BRCA1_ENST00000351666.3_Intron|BRCA1_ENST00000309486.4_Missense_Mutation_p.E219V	NM_007294.3	NP_009225.1	P38398	BRCA1_HUMAN	breast cancer 1, early onset	515					androgen receptor signaling pathway (GO:0030521)|apoptotic process (GO:0006915)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to indole-3-methanol (GO:0071681)|cellular response to tumor necrosis factor (GO:0071356)|chromosome segregation (GO:0007059)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|fatty acid biosynthetic process (GO:0006633)|G2 DNA damage checkpoint (GO:0031572)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|negative regulation of centriole replication (GO:0046600)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of fatty acid biosynthetic process (GO:0045717)|negative regulation of histone H3-K9 methylation (GO:0051573)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of DNA repair (GO:0045739)|positive regulation of gene expression (GO:0010628)|positive regulation of histone acetylation (GO:0035066)|positive regulation of histone H3-K4 methylation (GO:0051571)|positive regulation of histone H3-K9 acetylation (GO:2000617)|positive regulation of histone H4-K16 acetylation (GO:2000620)|positive regulation of histone H4-K20 methylation (GO:0070512)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation vascular endothelial growth factor production (GO:0010575)|postreplication repair (GO:0006301)|protein autoubiquitination (GO:0051865)|protein K6-linked ubiquitination (GO:0085020)|protein ubiquitination (GO:0016567)|regulation of apoptotic process (GO:0042981)|regulation of cell proliferation (GO:0042127)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription from RNA polymerase III promoter (GO:0006359)|response to estrogen (GO:0043627)|response to ionizing radiation (GO:0010212)	BRCA1-A complex (GO:0070531)|BRCA1-BARD1 complex (GO:0031436)|chromosome (GO:0005694)|cytoplasm (GO:0005737)|gamma-tubulin ring complex (GO:0008274)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|ribonucleoprotein complex (GO:0030529)|ubiquitin ligase complex (GO:0000151)	androgen receptor binding (GO:0050681)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|ligase activity (GO:0016874)|RNA binding (GO:0003723)|transcription coactivator activity (GO:0003713)|transcription regulatory region DNA binding (GO:0044212)|tubulin binding (GO:0015631)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.E515V(1)		NS(1)|breast(30)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(28)|ovary(36)|skin(2)|stomach(4)|urinary_tract(2)	120		Breast(137;0.000717)		BRCA - Breast invasive adenocarcinoma(366;0.126)		GATAAAATCCTCAGGATGAAG	0.388			"""D, Mis, N, F, S"""		ovarian	"""breast, ovarian"""		Homologous recombination	Hereditary Breast-Ovarian Cancer, BRCA1 type	TCGA Ovarian(2;0.000030)																												uc002icq.2			yes	Rec	yes	Hereditary breast/ovarian cancer	17	17q21	672	D|Mis|N|F|S	familial breast/ovarian cancer gene 1			E		breast|ovarian	ovarian		1	Substitution - Missense(1)		lung(1)	ovary(24)|breast(21)|lung(4)|central_nervous_system(1)|endometrium(1)|urinary_tract(1)	52	GRCh37	CM984015	BRCA1	M		c.(1543-1545)GAG>GTG	Homologous_recombination	breast cancer 1, early onset isoform 1							72.0	68.0	69.0					17																	41246004		2203	4300	6503	SO:0001583	missense	672	Hereditary_Breast-Ovarian_Cancer_BRCA1_type	Familial Cancer Database		androgen receptor signaling pathway|apoptosis|cellular response to indole-3-methanol|chromosome segregation|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|DNA damage response, signal transduction resulting in induction of apoptosis|double-strand break repair via homologous recombination|fatty acid biosynthetic process|G2/M transition DNA damage checkpoint|negative regulation of centriole replication|negative regulation of fatty acid biosynthetic process|negative regulation of histone H3-K9 methylation|negative regulation of transcription, DNA-dependent|positive regulation of cell cycle arrest|positive regulation of DNA repair|positive regulation of histone acetylation|positive regulation of histone H3-K4 methylation|positive regulation of histone H4-K20 methylation|positive regulation of protein ubiquitination|positive regulation of transcription from RNA polymerase II promoter|postreplication repair|protein autoubiquitination|protein K6-linked ubiquitination|regulation of cell motility|regulation of cell proliferation|regulation of transcription from RNA polymerase III promoter|response to estrogen stimulus|response to ionizing radiation|substrate adhesion-dependent cell spreading	BRCA1-A complex|BRCA1-BARD1 complex|gamma-tubulin ring complex|nucleoplasm|plasma membrane|ribonucleoprotein complex|ruffle	androgen receptor binding|identical protein binding|protein binding|RNA binding|transcription coactivator activity|transcription regulatory region DNA binding|tubulin binding|ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr17:41246004T>A	U14680	CCDS11453.1, CCDS11454.1, CCDS11455.1, CCDS11456.1, CCDS11459.1, CCDS11455.2, CCDS11456.2, CCDS11459.2, CCDS11454.2	17q21.31	2014-09-17			ENSG00000012048	ENSG00000012048		"""RING-type (C3HC4) zinc fingers"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	1100	protein-coding gene	gene with protein product	"""BRCA1/BRCA2-containing complex, subunit 1"", ""protein phosphatase 1, regulatory subunit 53"""	113705				1676470	Standard	NM_007300		Approved	RNF53, BRCC1, PPP1R53	uc002ict.3	P38398	OTTHUMG00000157426	ENST00000357654.3:c.1544A>T	17.37:g.41246004T>A	ENSP00000350283:p.Glu515Val	TCGA Ovarian(2;0.000030)				BRCA1_uc010whp.1_Intron|BRCA1_uc010whl.1_Intron|BRCA1_uc010whm.1_Intron|BRCA1_uc002icp.3_Missense_Mutation_p.E444V|BRCA1_uc002icu.2_Intron|BRCA1_uc010cyx.2_Missense_Mutation_p.E468V|BRCA1_uc002ict.2_Missense_Mutation_p.E515V|BRCA1_uc010whn.1_Intron|BRCA1_uc010who.1_Intron|BRCA1_uc010whq.1_Intron|BRCA1_uc002idc.1_Intron|BRCA1_uc010whr.1_Intron|BRCA1_uc002idd.2_Missense_Mutation_p.E515V|BRCA1_uc002ide.1_Missense_Mutation_p.E346V|BRCA1_uc010cyy.1_Missense_Mutation_p.E515V|BRCA1_uc010whs.1_Missense_Mutation_p.E515V|BRCA1_uc010cyz.2_Missense_Mutation_p.E468V|BRCA1_uc010cza.2_Missense_Mutation_p.E489V|BRCA1_uc010wht.1_Missense_Mutation_p.E219V	p.E515V	NM_007294	NP_009225	P38398	BRCA1_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.126)	10	1776	-		Breast(137;0.000717)	515					O15129|Q1RMC1|Q3LRJ0|Q3LRJ6|Q6IN79|Q7KYU9	Missense_Mutation	SNP	ENST00000357654.3	37	c.1544A>T	CCDS11453.1	.	.	.	.	.	.	.	.	.	.	T	14.65	2.600226	0.46423	.	.	ENSG00000012048	ENST00000357654;ENST00000412061;ENST00000354071;ENST00000346315;ENST00000309486;ENST00000471181;ENST00000493795;ENST00000470026;ENST00000477152	D;D;D;D;D;D;D;D	0.97731	-4.51;-4.51;-4.51;-4.51;-4.51;-4.51;-4.51;-4.51	4.62	4.62	0.57501	.	0.000000	0.53938	D	0.000047	D	0.99248	0.9738	H	0.98996	4.395	0.42578	D	0.993202	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.91635	0.993;0.984;0.999;0.994;0.996;0.997	D	0.98657	1.0682	10	0.87932	D	0	-14.7525	13.0375	0.58881	0.0:0.0:0.0:1.0	.	515;474;515;515;515;515	E7EMP0;E7ERL4;Q5YLB2;E9PFC7;P38398;P38398-2	.;.;.;.;BRCA1_HUMAN;.	V	515;515;515;515;219;515;468;515;489	ENSP00000350283:E515V;ENSP00000326002:E515V;ENSP00000246907:E515V;ENSP00000310938:E219V;ENSP00000418960:E515V;ENSP00000418775:E468V;ENSP00000419274:E515V;ENSP00000419988:E489V	ENSP00000310938:E219V	E	-	2	0	BRCA1	38499530	1.000000	0.71417	1.000000	0.80357	0.343000	0.28985	1.824000	0.39072	2.067000	0.61834	0.379000	0.24179	GAG		PASS	0.388	BRCA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348798.2	NM_007294		60	135	60	135	---	---	---	---
CRHR1	1394	broad.mit.edu	37	17	43893944	43893944	+	Silent	SNP	C	C	T			TCGA-66-2756-01A-01D-1522-08	TCGA-66-2756-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	472c95e6-eccb-4988-be16-fdace73b2ed8	ff4f5936-f847-42ad-aedf-6a6a7fff6002	g.chr17:43893944C>T	ENST00000398285.3	+	3	237	c.237C>T	c.(235-237)acC>acT	p.T79T	CRHR1_ENST00000339069.5_Missense_Mutation_p.P7L|CRHR1_ENST00000314537.5_Silent_p.T79T|CRHR1_ENST00000352855.5_Intron|RP11-105N13.4_ENST00000587305.1_RNA|CRHR1_ENST00000577353.1_Silent_p.T79T|CRHR1_ENST00000293493.7_5'UTR	NM_001145146.1	NP_001138618.1	P34998	CRFR1_HUMAN	corticotropin releasing hormone receptor 1	79					activation of adenylate cyclase activity (GO:0007190)|adrenal gland development (GO:0030325)|behavioral response to cocaine (GO:0048148)|behavioral response to ethanol (GO:0048149)|behavioral response to pain (GO:0048266)|cellular response to corticotropin-releasing hormone stimulus (GO:0071376)|corticotropin secretion (GO:0051458)|epithelial cell differentiation (GO:0030855)|fear response (GO:0042596)|female pregnancy (GO:0007565)|general adaptation syndrome, behavioral process (GO:0051867)|hypothalamus development (GO:0021854)|immune response (GO:0006955)|locomotory exploration behavior (GO:0035641)|long-term synaptic potentiation (GO:0060291)|memory (GO:0007613)|negative regulation of epinephrine secretion (GO:0032811)|negative regulation of feeding behavior (GO:2000252)|negative regulation of neuron death (GO:1901215)|negative regulation of voltage-gated calcium channel activity (GO:1901386)|neuropeptide signaling pathway (GO:0007218)|parturition (GO:0007567)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of adenylate cyclase activity involved in G-protein coupled receptor signaling pathway (GO:0010579)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of mast cell degranulation (GO:0043306)|regulation of adenylate cyclase activity involved in G-protein coupled receptor signaling pathway (GO:0010578)|regulation of corticosterone secretion (GO:2000852)|response to hypoxia (GO:0001666)|response to immobilization stress (GO:0035902)|visual learning (GO:0008542)	apical part of cell (GO:0045177)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intrinsic component of plasma membrane (GO:0031226)|multivesicular body (GO:0005771)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)|vesicle (GO:0031982)	corticotrophin-releasing factor receptor activity (GO:0015056)|corticotropin-releasing hormone binding (GO:0051424)|corticotropin-releasing hormone receptor activity (GO:0043404)	p.T79T(1)		NS(1)|breast(1)|endometrium(1)|large_intestine(4)|lung(15)|pancreas(1)|skin(1)	24	Colorectal(2;0.0416)			BRCA - Breast invasive adenocarcinoma(366;0.161)		GCTACAATACCACAAGTAAGG	0.587																																					Ovarian(110;57 1568 10207 38216 49865)	uc010dap.2																			1	Substitution - coding silent(1)		lung(1)	lung(3)	3						c.(235-237)ACC>ACT		corticotropin releasing hormone receptor 1							45.0	47.0	46.0					17																	43893944		1980	4145	6125	SO:0001819	synonymous_variant	1394				female pregnancy|immune response|parturition	integral to plasma membrane	corticotrophin-releasing factor receptor activity|protein binding	g.chr17:43893944C>T	L23332	CCDS42350.1, CCDS45712.1, CCDS45713.1, CCDS45714.1	17q12-q22	2012-08-14			ENSG00000120088	ENSG00000120088		"""GPCR / Class B : Corticotropin-releasing factor receptors"""	2357	protein-coding gene	gene with protein product	"""corticotropin-releasing factor receptor"""	122561		CRHR		7590738	Standard	NM_004382		Approved	CRF-R, CRF1	uc010dap.3	P34998		ENST00000398285.3:c.237C>T	17.37:g.43893944C>T						CRHR1_uc010wjx.1_5'UTR|CRHR1_uc002ijp.2_Missense_Mutation_p.P7L|CRHR1_uc002ijm.2_Silent_p.T79T|CRHR1_uc002ijn.2_Intron|CRHR1_uc010dar.2_Silent_p.T79T|CRHR1_uc010dao.2_Missense_Mutation_p.P7L|CRHR1_uc010daq.2_5'UTR|CRHR1_uc010das.1_RNA|CRHR1_uc002ijo.1_Intron	p.T79T	NM_001145146	NP_001138618	P34998	CRFR1_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.161)	3	502	+	Colorectal(2;0.0416)		79			Extracellular (Potential).		B4DIE9|Q13008|Q4QRJ1|Q9UK64	Silent	SNP	ENST00000398285.3	37	c.237C>T	CCDS45712.1	.	.	.	.	.	.	.	.	.	.	C	15.85	2.954365	0.53293	.	.	ENSG00000120088	ENST00000339069	T	0.43294	0.95	5.04	1.82	0.25136	.	.	.	.	.	T	0.27900	0.0687	.	.	.	0.80722	D	1	B;B	0.06786	0.0;0.001	B;B	0.06405	0.0;0.002	T	0.31166	-0.9953	8	0.72032	D	0.01	.	3.2427	0.06787	0.1806:0.5505:0.1743:0.0946	.	7;7	B3TIK8;B4DMR5	.;.	L	7	ENSP00000340522:P7L	ENSP00000340522:P7L	P	+	2	0	CRHR1	41249725	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	1.060000	0.30530	1.337000	0.45525	0.655000	0.94253	CCA		PASS	0.587	CRHR1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000441241.3			20	42	20	42	---	---	---	---
HOXB1	3211	broad.mit.edu	37	17	46608014	46608014	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2756-01A-01D-1522-08	TCGA-66-2756-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	472c95e6-eccb-4988-be16-fdace73b2ed8	ff4f5936-f847-42ad-aedf-6a6a7fff6002	g.chr17:46608014C>T	ENST00000239174.6	-	1	345	c.253G>A	c.(253-255)Gct>Act	p.A85T	HOXB1_ENST00000577092.1_Missense_Mutation_p.A85T	NM_002144.3	NP_002135.2	P14653	HXB1_HUMAN	homeobox B1	85					anatomical structure formation involved in morphogenesis (GO:0048646)|anterior/posterior pattern specification (GO:0009952)|embryonic skeletal system morphogenesis (GO:0048704)|facial nerve structural organization (GO:0021612)|facial nucleus development (GO:0021754)|multicellular organismal development (GO:0007275)|pattern specification process (GO:0007389)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|rhombomere 4 development (GO:0021570)|rhombomere 5 development (GO:0021571)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|protein domain specific binding (GO:0019904)|sequence-specific DNA binding (GO:0043565)	p.A85T(1)		central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						GCGGCAGGAGCATACCCCGAG	0.657																																						uc002ink.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(253-255)GCT>ACT		homeobox B1							44.0	49.0	47.0					17																	46608014		2203	4298	6501	SO:0001583	missense	3211					nucleus	protein domain specific binding|sequence-specific DNA binding transcription factor activity	g.chr17:46608014C>T		CCDS32675.1	17q21.32	2011-06-20	2005-12-22		ENSG00000120094	ENSG00000120094		"""Homeoboxes / ANTP class : HOXL subclass"""	5111	protein-coding gene	gene with protein product		142968	"""homeo box B1"""	HOX2, HOX2I		1973146, 1358459	Standard	NM_002144		Approved		uc002ink.1	P14653	OTTHUMG00000159929	ENST00000239174.6:c.253G>A	17.37:g.46608014C>T	ENSP00000355140:p.Ala85Thr						p.A85T	NM_002144	NP_002135	P14653	HXB1_HUMAN			1	259	-			85					Q4VB03	Missense_Mutation	SNP	ENST00000239174.6	37	c.253G>A	CCDS32675.1	.	.	.	.	.	.	.	.	.	.	C	0.735	-0.778407	0.02929	.	.	ENSG00000120094	ENST00000239174	D	0.89485	-2.52	4.57	1.15	0.20763	.	0.712177	0.12158	N	0.494252	T	0.68961	0.3058	N	0.08118	0	0.25851	N	0.983933	B	0.02656	0.0	B	0.04013	0.001	T	0.55431	-0.8142	10	0.07990	T	0.79	.	0.6792	0.00871	0.2343:0.3442:0.2309:0.1906	.	85	P14653	HXB1_HUMAN	T	85	ENSP00000355140:A85T	ENSP00000355140:A85T	A	-	1	0	HOXB1	43963013	0.993000	0.37304	0.595000	0.28798	0.282000	0.26991	0.497000	0.22514	0.511000	0.28236	0.551000	0.68910	GCT		PASS	0.657	HOXB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358383.3			40	78	40	78	---	---	---	---
TSEN54	283989	broad.mit.edu	37	17	73517538	73517538	+	Silent	SNP	G	G	T			TCGA-66-2756-01A-01D-1522-08	TCGA-66-2756-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	472c95e6-eccb-4988-be16-fdace73b2ed8	ff4f5936-f847-42ad-aedf-6a6a7fff6002	g.chr17:73517538G>T	ENST00000333213.6	+	7	606	c.570G>T	c.(568-570)gtG>gtT	p.V190V		NM_207346.2	NP_997229.2	Q7Z6J9	SEN54_HUMAN	TSEN54 tRNA splicing endonuclease subunit	190					mRNA processing (GO:0006397)|tRNA splicing, via endonucleolytic cleavage and ligation (GO:0006388)	nucleus (GO:0005634)		p.V190V(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(5)|ovary(2)	13	all_cancers(13;3.15e-09)|all_epithelial(9;5.78e-10)|Breast(9;5.8e-10)|all_lung(278;0.246)		all cancers(21;4.57e-07)|Epithelial(20;2.92e-06)|Lung(188;0.0809)|LUSC - Lung squamous cell carcinoma(166;0.154)			ATGCCAGCGTGCAGCACTTGG	0.632																																						uc002jof.1																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(568-570)GTG>GTT		tRNA splicing endonuclease 54 homolog							98.0	88.0	91.0					17																	73517538		2203	4300	6503	SO:0001819	synonymous_variant	283989				mRNA processing|tRNA splicing, via endonucleolytic cleavage and ligation	nucleolus		g.chr17:73517538G>T	AK097583	CCDS11724.1	17q25.1	2013-08-06	2013-08-06		ENSG00000182173	ENSG00000182173		"""tRNA splicing endonuclease subunits"""	27561	protein-coding gene	gene with protein product		608755	"""tRNA splicing endonuclease 54 homolog (SEN54, S. cerevisiae)"", ""tRNA splicing endonuclease 54 homolog (S. cerevisiae)"""			15109492	Standard	NM_207346		Approved	SEN54, SEN54L	uc002jof.1	Q7Z6J9		ENST00000333213.6:c.570G>T	17.37:g.73517538G>T						TSEN54_uc002joe.1_3'UTR	p.V190V	NM_207346	NP_997229	Q7Z6J9	SEN54_HUMAN	all cancers(21;4.57e-07)|Epithelial(20;2.92e-06)|Lung(188;0.0809)|LUSC - Lung squamous cell carcinoma(166;0.154)		7	603	+	all_cancers(13;3.15e-09)|all_epithelial(9;5.78e-10)|Breast(9;5.8e-10)|all_lung(278;0.246)		190					Q86WV3|Q86XE4|Q8N9H2	Silent	SNP	ENST00000333213.6	37	c.570G>T	CCDS11724.1																																																																																				PASS	0.632	TSEN54-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447618.1	NM_207346		20	57	20	57	---	---	---	---
DNAH17	8632	broad.mit.edu	37	17	76558032	76558032	+	Missense_Mutation	SNP	G	G	C			TCGA-66-2756-01A-01D-1522-08	TCGA-66-2756-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	472c95e6-eccb-4988-be16-fdace73b2ed8	ff4f5936-f847-42ad-aedf-6a6a7fff6002	g.chr17:76558032G>C	ENST00000585328.1	-	12	1724	c.1600C>G	c.(1600-1602)Cgg>Ggg	p.R534G	DNAH17_ENST00000389840.5_Missense_Mutation_p.R534G	NM_173628.3	NP_775899.3	Q9UFH2	DYH17_HUMAN	dynein, axonemal, heavy chain 17	534	Stem. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.R534G(1)		NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			ATCAGGGGCCGCTCCATGAGG	0.577																																						uc002jvv.1																			1	Substitution - Missense(1)		lung(1)	ovary(6)|breast(2)|skin(1)	9						c.(706-708)CGG>GGG		RecName: Full=Dynein heavy chain 17, axonemal; AltName: Full=Axonemal beta dynein heavy chain 17; AltName: Full=Ciliary dynein heavy chain 17; AltName: Full=Ciliary dynein heavy chain-like protein 1; AltName: Full=Axonemal dynein heavy chain-like protein 1; AltName: Full=Dynein light chain 2, axonemal;							27.0	29.0	28.0					17																	76558032		2201	4300	6501	SO:0001583	missense	8632							g.chr17:76558032G>C	AJ000522		17q25.3	2012-04-19	2006-09-04		ENSG00000187775	ENSG00000187775		"""Axonemal dyneins"""	2946	protein-coding gene	gene with protein product		610063	"""dynein, axonemal, heavy polypeptide 17"", ""dynein, axonemal, heavy chain like 1"", ""dynein, axonemal, heavy like 1"""	DNAHL1		9545504	Standard	NM_173628		Approved	DNEL2, FLJ40457	uc010dhp.2	Q9UFH2		ENST00000585328.1:c.1600C>G	17.37:g.76558032G>C	ENSP00000465516:p.Arg534Gly						p.R236G					BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)		8	812	-								O00431|O15206|Q2M2Y1|Q6ZRQ2|Q8N7Q7	Missense_Mutation	SNP	ENST00000585328.1	37	c.706C>G		.	.	.	.	.	.	.	.	.	.	G	12.45	1.940627	0.34283	.	.	ENSG00000187775	ENST00000300671;ENST00000389840	T	0.62788	0.0	5.01	4.02	0.46733	.	0.411729	0.18115	N	0.151227	T	0.76586	0.4008	M	0.88906	2.99	0.32714	N	0.511166	P	0.50272	0.933	P	0.54140	0.743	D	0.84052	0.0370	10	0.87932	D	0	.	11.7263	0.51712	0.0:0.0:0.6812:0.3188	.	236	Q9UFH2-4	.	G	534	ENSP00000374490:R534G	ENSP00000300671:R534G	R	-	1	2	DNAH17	74069627	1.000000	0.71417	1.000000	0.80357	0.109000	0.19521	5.777000	0.68931	1.073000	0.40885	-0.441000	0.05720	CGG		PASS	0.577	DNAH17-001	PUTATIVE	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000318962.2	NM_173628		35	26	35	26	---	---	---	---
BAHCC1	57597	broad.mit.edu	37	17	79409552	79409552	+	Missense_Mutation	SNP	A	A	G			TCGA-66-2756-01A-01D-1522-08	TCGA-66-2756-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	472c95e6-eccb-4988-be16-fdace73b2ed8	ff4f5936-f847-42ad-aedf-6a6a7fff6002	g.chr17:79409552A>G	ENST00000307745.7	+	9	1177	c.1177A>G	c.(1177-1179)Acc>Gcc	p.T393A															p.T393A(1)									CAGCGGGCCCACCTTCGTGCC	0.731																																						uc002kaf.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1177-1179)ACC>GCC		BAH domain and coiled-coil containing 1							8.0	10.0	10.0					17																	79409552		1829	3977	5806	SO:0001583	missense	57597						DNA binding	g.chr17:79409552A>G																												ENST00000307745.7:c.1177A>G	17.37:g.79409552A>G	ENSP00000303486:p.Thr393Ala					BAHCC1_uc002kae.2_5'Flank	p.T393A	NM_001080519	NP_001073988	Q9P281	BAHC1_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0224)|OV - Ovarian serous cystadenocarcinoma(97;0.116)		3	1177	+	all_neural(118;0.0804)|Melanoma(429;0.242)		393						Missense_Mutation	SNP	ENST00000307745.7	37	c.1177A>G		.	.	.	.	.	.	.	.	.	.	a	22.5	4.298672	0.81025	.	.	ENSG00000171282	ENST00000307745	T	0.30981	1.51	4.01	4.01	0.46588	.	.	.	.	.	T	0.51092	0.1654	M	0.66939	2.045	0.44048	D	0.996781	D	0.76494	0.999	D	0.78314	0.991	T	0.53872	-0.8377	9	0.59425	D	0.04	.	12.0944	0.53747	1.0:0.0:0.0:0.0	.	393	Q9P281	BAHC1_HUMAN	A	393	ENSP00000303486:T393A	ENSP00000303486:T393A	T	+	1	0	AC110285.1	77024147	1.000000	0.71417	1.000000	0.80357	0.913000	0.54294	6.468000	0.73551	1.708000	0.51301	0.235000	0.17854	ACC		PASS	0.731	RP11-1055B8.7-201	KNOWN	basic|appris_principal	protein_coding	protein_coding				9	10	9	10	---	---	---	---
WDR45B	56270	broad.mit.edu	37	17	80575231	80575231	+	Silent	SNP	G	G	A	rs145253791	byFrequency	TCGA-66-2756-01A-01D-1522-08	TCGA-66-2756-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	472c95e6-eccb-4988-be16-fdace73b2ed8	ff4f5936-f847-42ad-aedf-6a6a7fff6002	g.chr17:80575231G>A	ENST00000392325.4	-	8	941	c.747C>T	c.(745-747)agC>agT	p.S249S	WDR45B_ENST00000571835.1_5'UTR	NM_019613.3	NP_062559.2	Q5MNZ6	WIPI3_HUMAN	WD repeat domain 45B	249								p.S249S(1)									TGCCGTGGTCGCTGGATACGC	0.517																																						uc002kfq.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(745-747)AGC>AGT		WDR45-like		G		3,4403	6.2+/-15.9	0,3,2200	128.0	101.0	110.0		747	2.5	1.0	17	dbSNP_134	110	0,8600		0,0,4300	no	coding-synonymous	WDR45L	NM_019613.3		0,3,6500	AA,AG,GG		0.0,0.0681,0.0231		249/345	80575231	3,13003	2203	4300	6503	SO:0001819	synonymous_variant	56270				autophagy|response to starvation	organelle membrane	phosphatidylinositol-3,5-bisphosphate binding	g.chr17:80575231G>A	AF091083	CCDS11815.2	17q25.3	2013-01-11	2013-01-11	2013-01-11	ENSG00000141580	ENSG00000141580		"""WD repeat domain containing"""	25072	protein-coding gene	gene with protein product		609226	"""WDR45-like"""	WDR45L		12477932	Standard	NM_019613		Approved	WIPI3	uc002kfq.3	Q5MNZ6	OTTHUMG00000150146	ENST00000392325.4:c.747C>T	17.37:g.80575231G>A						WDR45L_uc002kfr.2_RNA	p.S249S	NM_019613	NP_062559	Q5MNZ6	WIPI3_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0262)|OV - Ovarian serous cystadenocarcinoma(97;0.0835)		8	942	-	Breast(20;0.00106)|all_neural(118;0.0952)	all_cancers(8;0.101)|all_epithelial(8;0.198)	249			WD 2.		O95328|Q2MCP6|Q6IBN2	Silent	SNP	ENST00000392325.4	37	c.747C>T	CCDS11815.2																																																																																				PASS	0.517	WDR45B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316536.1	NM_019613		14	50	14	50	---	---	---	---
LAMA1	284217	broad.mit.edu	37	18	6943296	6943296	+	Missense_Mutation	SNP	T	T	C			TCGA-66-2756-01A-01D-1522-08	TCGA-66-2756-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	472c95e6-eccb-4988-be16-fdace73b2ed8	ff4f5936-f847-42ad-aedf-6a6a7fff6002	g.chr18:6943296T>C	ENST00000389658.3	-	62	9043	c.8950A>G	c.(8950-8952)Aaa>Gaa	p.K2984E		NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN	laminin, alpha 1	2984	Laminin G-like 5. {ECO:0000255|PROSITE- ProRule:PRU00122}.				axon guidance (GO:0007411)|branching involved in salivary gland morphogenesis (GO:0060445)|cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|establishment of epithelial cell apical/basal polarity (GO:0045198)|extracellular matrix organization (GO:0030198)|morphogenesis of an epithelial sheet (GO:0002011)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)|retinal blood vessel morphogenesis (GO:0061304)	basement membrane (GO:0005604)|cell-cell junction (GO:0005911)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|laminin-1 complex (GO:0005606)|laminin-3 complex (GO:0005608)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|glycosphingolipid binding (GO:0043208)	p.K2984E(1)		NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205		Colorectal(10;0.172)				TGTTTGCTTTTGTTAGCTTGA	0.488																																						uc002knm.2																			1	Substitution - Missense(1)		lung(1)	ovary(8)|large_intestine(4)|upper_aerodigestive_tract(2)|breast(2)|skin(2)|pancreas(2)|central_nervous_system(1)	21						c.(8950-8952)AAA>GAA		laminin, alpha 1 precursor	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)						310.0	250.0	270.0					18																	6943296		2203	4300	6503	SO:0001583	missense	284217				axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	extracellular space|laminin-1 complex|laminin-3 complex	extracellular matrix structural constituent|receptor binding	g.chr18:6943296T>C	X58531	CCDS32787.1	18p11.3	2013-03-01			ENSG00000101680	ENSG00000101680		"""Laminins"""	6481	protein-coding gene	gene with protein product		150320		LAMA		2591971	Standard	NM_005559		Approved		uc002knm.3	P25391	OTTHUMG00000133478	ENST00000389658.3:c.8950A>G	18.37:g.6943296T>C	ENSP00000374309:p.Lys2984Glu					LAMA1_uc002knk.2_Missense_Mutation_p.K314E|LAMA1_uc002knl.2_Missense_Mutation_p.K437E|LAMA1_uc010wzj.1_Missense_Mutation_p.K2460E	p.K2984E	NM_005559	NP_005550	P25391	LAMA1_HUMAN			62	9044	-		Colorectal(10;0.172)	2984			Laminin G-like 5.			Missense_Mutation	SNP	ENST00000389658.3	37	c.8950A>G	CCDS32787.1	.	.	.	.	.	.	.	.	.	.	T	19.28	3.796929	0.70567	.	.	ENSG00000101680	ENST00000389658	T	0.42513	0.97	5.73	5.73	0.89815	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 1 (1);	0.201214	0.38897	N	0.001524	T	0.70474	0.3228	M	0.89287	3.02	0.41583	D	0.988756	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	T	0.76658	-0.2878	10	0.59425	D	0.04	.	16.0115	0.80406	0.0:0.0:0.0:1.0	.	2984;314	P25391;B3KSD8	LAMA1_HUMAN;.	E	2984	ENSP00000374309:K2984E	ENSP00000374309:K2984E	K	-	1	0	LAMA1	6933296	1.000000	0.71417	0.979000	0.43373	0.176000	0.22953	7.609000	0.82925	2.187000	0.69744	0.460000	0.39030	AAA		PASS	0.488	LAMA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257369.1	NM_005559		46	154	46	154	---	---	---	---
PPP4R1	9989	broad.mit.edu	37	18	9557338	9557338	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2756-01A-01D-1522-08	TCGA-66-2756-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	472c95e6-eccb-4988-be16-fdace73b2ed8	ff4f5936-f847-42ad-aedf-6a6a7fff6002	g.chr18:9557338C>A	ENST00000400556.3	-	15	2144	c.2071G>T	c.(2071-2073)Gca>Tca	p.A691S	PPP4R1_ENST00000400555.3_Missense_Mutation_p.A674S	NM_001042388.2	NP_001035847.1	Q8TF05	PP4R1_HUMAN	protein phosphatase 4, regulatory subunit 1	691					dephosphorylation (GO:0016311)|protein phosphorylation (GO:0006468)|regulation of catalytic activity (GO:0050790)|signal transduction (GO:0007165)	protein phosphatase 4 complex (GO:0030289)	protein phosphatase type 4 regulator activity (GO:0030362)	p.A691S(1)		large_intestine(1)|skin(2)	3						AGAATAACTGCAAGCTCGTGG	0.388																																					Melanoma(188;1232 2082 5061 11948 35994)	uc002koe.1																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(2071-2073)GCA>TCA		protein phosphatase 4, regulatory subunit 1							145.0	139.0	141.0					18																	9557338		1861	4096	5957	SO:0001583	missense	9989				protein phosphorylation|signal transduction	protein phosphatase 4 complex	protein binding|protein phosphatase type 4 regulator activity	g.chr18:9557338C>A	AF111106	CCDS42412.1, CCDS42413.1	18p11.22	2010-06-18			ENSG00000154845	ENSG00000154845		"""Serine/threonine phosphatases / Protein phosphatase 4, regulatory subunits"""	9320	protein-coding gene	gene with protein product		604908				10026142	Standard	NM_001042388		Approved	PP4R1	uc002koe.2	Q8TF05	OTTHUMG00000137466	ENST00000400556.3:c.2071G>T	18.37:g.9557338C>A	ENSP00000383402:p.Ala691Ser					PPP4R1_uc002kof.2_Missense_Mutation_p.A108S|PPP4R1_uc010wzo.1_Missense_Mutation_p.A537S|PPP4R1_uc002kod.1_Missense_Mutation_p.A674S	p.A691S	NM_001042388	NP_001035847	Q8TF05	PP4R1_HUMAN			15	2189	-			691					Q99774|Q9UNQ7	Missense_Mutation	SNP	ENST00000400556.3	37	c.2071G>T	CCDS42412.1	.	.	.	.	.	.	.	.	.	.	C	35	5.567821	0.96540	.	.	ENSG00000154845	ENST00000400556;ENST00000400555	T;T	0.35789	1.29;1.29	5.62	5.62	0.85841	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.68183	0.2973	M	0.88979	2.995	0.80722	D	1	D;D;D	0.76494	0.999;0.999;0.999	D;D;D	0.77557	0.943;0.967;0.99	T	0.72686	-0.4218	9	.	.	.	-14.8079	19.661	0.95871	0.0:1.0:0.0:0.0	.	674;691;674	A8K923;Q8TF05;Q8TF05-2	.;PP4R1_HUMAN;.	S	691;674	ENSP00000383402:A691S;ENSP00000383401:A674S	.	A	-	1	0	PPP4R1	9547338	1.000000	0.71417	0.825000	0.32803	0.985000	0.73830	7.487000	0.81328	2.659000	0.90383	0.655000	0.94253	GCA		PASS	0.388	PPP4R1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000268571.1	NM_005134		208	55	208	55	---	---	---	---
ANKRD20A5P	440482	broad.mit.edu	37	18	14183733	14183733	+	RNA	SNP	T	T	C			TCGA-66-2756-01A-01D-1522-08	TCGA-66-2756-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	472c95e6-eccb-4988-be16-fdace73b2ed8	ff4f5936-f847-42ad-aedf-6a6a7fff6002	g.chr18:14183733T>C	ENST00000581935.1	+	0	584							A0PJZ0	A20A5_HUMAN	ankyrin repeat domain 20 family, member A5, pseudogene									p.Y48H(1)		lung(3)	3						GATTGATATCTATGACAAAGA	0.378																																						uc010xag.1																			1	Substitution - Missense(1)		lung(1)								c.(286-288)TAT>CAT		RecName: Full=Putative ankyrin repeat domain-containing protein 20A5;							98.0	97.0	97.0					18																	14183733		2203	4300	6503			0							g.chr18:14183733T>C	BC022023		18p11.21	2011-06-01	2011-06-01	2011-06-01	ENSG00000186481	ENSG00000186481			33833	pseudogene	pseudogene			"""ankyrin repeat domain 20 family, member A5"""	ANKRD20A5			Standard	NR_040113		Approved	MGC26718	uc010xag.2	A0PJZ0	OTTHUMG00000157172		18.37:g.14183733T>C						uc002ksv.1_5'Flank	p.Y96H							2	584	+								Q4G1B6	Missense_Mutation	SNP	ENST00000581935.1	37	c.286T>C																																																																																					PASS	0.378	ANKRD20A5P-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000442833.1			33	157	33	157	---	---	---	---
ASXL3	80816	broad.mit.edu	37	18	31323871	31323871	+	Silent	SNP	C	C	T			TCGA-66-2756-01A-01D-1522-08	TCGA-66-2756-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	472c95e6-eccb-4988-be16-fdace73b2ed8	ff4f5936-f847-42ad-aedf-6a6a7fff6002	g.chr18:31323871C>T	ENST00000269197.5	+	12	4059	c.4059C>T	c.(4057-4059)ctC>ctT	p.L1353L		NM_030632.1	NP_085135.1	Q9C0F0	ASXL3_HUMAN	additional sex combs like transcriptional regulator 3	1353	Ser-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.L1353L(1)		breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	43						TGCCAAACCTCTCCACTAGCT	0.453											OREG0024911	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc010dmg.1																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|pancreas(1)	3						c.(4057-4059)CTC>CTT		additional sex combs like 3							153.0	155.0	154.0					18																	31323871		1970	4149	6119	SO:0001819	synonymous_variant	80816				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding	g.chr18:31323871C>T	AB051500	CCDS45847.1	18q11	2014-06-17	2014-06-17	2007-02-01		ENSG00000141431			29357	protein-coding gene	gene with protein product		615115	"""KIAA1713"", ""additional sex combs like 3 (Drosophila)"""	KIAA1713		11214970	Standard	NM_030632		Approved		uc010dmg.1	Q9C0F0		ENST00000269197.5:c.4059C>T	18.37:g.31323871C>T			OREG0024911	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	823	ASXL3_uc002kxq.2_Silent_p.L1060L	p.L1353L	NM_030632	NP_085135	Q9C0F0	ASXL3_HUMAN			12	4114	+			1353			Ser-rich.		Q6ZMX6|Q96MU3|Q9UFC5	Silent	SNP	ENST00000269197.5	37	c.4059C>T	CCDS45847.1																																																																																				PASS	0.453	ASXL3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441865.2			218	78	218	78	---	---	---	---
CDH20	28316	broad.mit.edu	37	18	59206307	59206307	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2756-01A-01D-1522-08	TCGA-66-2756-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	472c95e6-eccb-4988-be16-fdace73b2ed8	ff4f5936-f847-42ad-aedf-6a6a7fff6002	g.chr18:59206307G>T	ENST00000262717.4	+	9	1857	c.1459G>T	c.(1459-1461)Gtg>Ttg	p.V487L	CDH20_ENST00000536675.2_Missense_Mutation_p.V487L|CDH20_ENST00000538374.1_Missense_Mutation_p.V487L			Q9HBT6	CAD20_HUMAN	cadherin 20, type 2	487	Cadherin 4. {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.V487L(1)		breast(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(33)|ovary(1)|pancreas(1)|skin(3)	61		Colorectal(73;0.186)				AGTCTTAGATGTGAATGACAA	0.463																																						uc010dps.1																			1	Substitution - Missense(1)		lung(1)	breast(3)|ovary(1)|pancreas(1)	5						c.(1459-1461)GTG>TTG		cadherin 20, type 2 preproprotein							182.0	166.0	171.0					18																	59206307		2203	4300	6503	SO:0001583	missense	28316				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr18:59206307G>T	AF217289	CCDS11977.1	18q21.33	2010-01-26			ENSG00000101542	ENSG00000101542		"""Cadherins / Major cadherins"""	1760	protein-coding gene	gene with protein product		605807				10995570	Standard	NM_031891		Approved	CDH7L3, Cdh7	uc010dps.1	Q9HBT6	OTTHUMG00000132768	ENST00000262717.4:c.1459G>T	18.37:g.59206307G>T	ENSP00000262717:p.Val487Leu					CDH20_uc002lif.2_Missense_Mutation_p.V481L	p.V487L	NM_031891	NP_114097	Q9HBT6	CAD20_HUMAN			8	1471	+		Colorectal(73;0.186)	487			Cadherin 4.|Extracellular (Potential).		Q495S3	Missense_Mutation	SNP	ENST00000262717.4	37	c.1459G>T	CCDS11977.1	.	.	.	.	.	.	.	.	.	.	G	19.39	3.819135	0.71028	.	.	ENSG00000101542	ENST00000536675;ENST00000538374;ENST00000262717	T;T;T	0.62232	0.04;0.04;0.04	5.77	5.77	0.91146	Cadherin (4);Cadherin conserved site (1);Cadherin-like (1);	0.000000	0.85682	D	0.000000	T	0.66406	0.2786	M	0.78223	2.4	0.80722	D	1	P	0.45768	0.866	B	0.38921	0.285	T	0.73582	-0.3937	10	0.72032	D	0.01	.	19.9992	0.97404	0.0:0.0:1.0:0.0	.	487	Q9HBT6	CAD20_HUMAN	L	487	ENSP00000444767:V487L;ENSP00000442226:V487L;ENSP00000262717:V487L	ENSP00000262717:V487L	V	+	1	0	CDH20	57357287	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	6.337000	0.72958	2.724000	0.93272	0.643000	0.83706	GTG		PASS	0.463	CDH20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256141.2	NM_031891		154	48	154	48	---	---	---	---
SERPINB13	5275	broad.mit.edu	37	18	61256064	61256064	+	Nonsense_Mutation	SNP	G	G	T			TCGA-66-2756-01A-01D-1522-08	TCGA-66-2756-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	472c95e6-eccb-4988-be16-fdace73b2ed8	ff4f5936-f847-42ad-aedf-6a6a7fff6002	g.chr18:61256064G>T	ENST00000344731.5	+	2	265	c.163G>T	c.(163-165)Gag>Tag	p.E55*	SERPINB13_ENST00000269489.5_Nonsense_Mutation_p.E55*	NM_012397.3	NP_036529.1	Q9UIV8	SPB13_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 13	55					negative regulation of endopeptidase activity (GO:0010951)|regulation of proteolysis (GO:0030162)|response to UV (GO:0009411)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	serine-type endopeptidase inhibitor activity (GO:0004867)	p.E55*(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|prostate(2)|urinary_tract(1)	25						CCAGTTGGAGGAGGTTGGGCG	0.527																																						uc002ljc.2																			1	Substitution - Nonsense(1)		lung(1)	ovary(1)	1						c.(163-165)GAG>TAG		serine (or cysteine) proteinase inhibitor, clade							40.0	41.0	41.0					18																	61256064		2203	4300	6503	SO:0001587	stop_gained	5275				regulation of proteolysis|response to UV	cytoplasm|extracellular region	serine-type endopeptidase inhibitor activity	g.chr18:61256064G>T	AF169949, BC101821	CCDS11985.1	18q21.33	2014-02-18	2005-08-18		ENSG00000197641	ENSG00000197641		"""Serine (or cysteine) peptidase inhibitors"""	8944	protein-coding gene	gene with protein product		604445	"""serine (or cysteine) proteinase inhibitor, clade B (ovalbumin), member 13"""	PI13		9297979, 10512713, 24172014	Standard	NM_012397		Approved	HUR7, hurpin, headpin	uc002ljc.3	Q9UIV8	OTTHUMG00000060406	ENST00000344731.5:c.163G>T	18.37:g.61256064G>T	ENSP00000341584:p.Glu55*					SERPINB13_uc002ljd.2_5'UTR|SERPINB13_uc010xep.1_Nonsense_Mutation_p.E55*|SERPINB13_uc010xeq.1_5'UTR|SERPINB13_uc010xer.1_5'UTR	p.E55*	NM_012397	NP_036529	Q9UIV8	SPB13_HUMAN			2	331	+			55					A8K2Q8|Q3MII2|Q9HCX1|Q9UBW1|Q9UKG0	Nonsense_Mutation	SNP	ENST00000344731.5	37	c.163G>T	CCDS11985.1	.	.	.	.	.	.	.	.	.	.	G	15.17	2.754261	0.49362	.	.	ENSG00000197641	ENST00000431153;ENST00000269489;ENST00000539341;ENST00000344731;ENST00000415733	.	.	.	4.82	-0.86	0.10680	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	5.417	0.16380	0.6367:0.1367:0.2266:0.0	.	.	.	.	X	85;55;55;55;34	.	ENSP00000269489:E55X	E	+	1	0	SERPINB13	59407044	0.016000	0.18221	0.905000	0.35620	0.019000	0.09904	0.159000	0.16442	-0.219000	0.10003	-1.069000	0.02264	GAG		PASS	0.527	SERPINB13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000133798.1	NM_012397		4	78	4	78	---	---	---	---
ZNF560	147741	broad.mit.edu	37	19	9578078	9578078	+	Silent	SNP	G	G	A			TCGA-66-2756-01A-01D-1522-08	TCGA-66-2756-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	472c95e6-eccb-4988-be16-fdace73b2ed8	ff4f5936-f847-42ad-aedf-6a6a7fff6002	g.chr19:9578078G>A	ENST00000301480.4	-	10	1758	c.1545C>T	c.(1543-1545)ccC>ccT	p.P515P		NM_152476.2	NP_689689.2	Q96MR9	ZN560_HUMAN	zinc finger protein 560	515					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.P515P(1)		NS(1)|breast(3)|endometrium(3)|kidney(2)|large_intestine(16)|liver(2)|lung(24)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)	65						AACACTTAAAGGGCTTCTCAC	0.408																																						uc002mlp.1																			1	Substitution - coding silent(1)		lung(1)	skin(2)|ovary(1)|large_intestine(1)|pancreas(1)|liver(1)	6						c.(1543-1545)CCC>CCT		zinc finger protein 560							108.0	112.0	111.0					19																	9578078		2203	4300	6503	SO:0001819	synonymous_variant	147741				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:9578078G>A	AK056548	CCDS12214.1	19p13.2	2013-09-20			ENSG00000198028	ENSG00000198028		"""Zinc fingers, C2H2-type"", ""-"""	26484	protein-coding gene	gene with protein product							Standard	NM_152476		Approved	FLJ31986	uc002mlp.1	Q96MR9	OTTHUMG00000180130	ENST00000301480.4:c.1545C>T	19.37:g.9578078G>A						ZNF560_uc010dwr.1_Silent_p.P409P	p.P515P	NM_152476	NP_689689	Q96MR9	ZN560_HUMAN			10	1755	-			515					Q495S9|Q495T1	Silent	SNP	ENST00000301480.4	37	c.1545C>T	CCDS12214.1																																																																																				PASS	0.408	ZNF560-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449901.1	NM_152476		128	41	128	41	---	---	---	---
ZNF121	7675	broad.mit.edu	37	19	9677376	9677376	+	Missense_Mutation	SNP	T	T	G			TCGA-66-2756-01A-01D-1522-08	TCGA-66-2756-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	472c95e6-eccb-4988-be16-fdace73b2ed8	ff4f5936-f847-42ad-aedf-6a6a7fff6002	g.chr19:9677376T>G	ENST00000586602.1	-	6	829	c.413A>C	c.(412-414)cAt>cCt	p.H138P	ZNF121_ENST00000320451.6_Missense_Mutation_p.H138P			P58317	ZN121_HUMAN	zinc finger protein 121	138					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.H138P(1)		breast(3)|kidney(4)|large_intestine(8)|lung(6)|ovary(2)|prostate(1)	24						TTCTACAGTATGCATTTTAAC	0.388																																						uc010xkp.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(412-414)CAT>CCT		zinc finger protein 121							84.0	76.0	79.0					19																	9677376		2203	4300	6503	SO:0001583	missense	7675				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:9677376T>G	M99593	CCDS32902.1	19p13.2	2013-01-08	2006-08-22			ENSG00000197961		"""Zinc fingers, C2H2-type"""	12904	protein-coding gene	gene with protein product		194628	"""zinc finger protein 121 (clone ZHC32)"""	D19S204		8468057	Standard	NM_001008727		Approved	ZHC32, ZNF20	uc010xkp.1	P58317		ENST00000586602.1:c.413A>C	19.37:g.9677376T>G	ENSP00000468643:p.His138Pro					ZNF121_uc010dwt.2_Missense_Mutation_p.H138P|ZNF121_uc010xkq.1_Missense_Mutation_p.H138P	p.H138P	NM_001008727	NP_001008727	P58317	ZN121_HUMAN			4	645	-			138			C2H2-type 2; degenerate.			Missense_Mutation	SNP	ENST00000586602.1	37	c.413A>C		.	.	.	.	.	.	.	.	.	.	T	3.517	-0.098656	0.07010	.	.	ENSG00000197961	ENST00000538300;ENST00000320451	T	0.67698	-0.28	1.3	-2.61	0.06171	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.75693	0.3884	M	0.88310	2.945	0.09310	N	1	B	0.32573	0.376	P	0.49332	0.607	T	0.72846	-0.4169	9	0.87932	D	0	.	2.7379	0.05245	0.2029:0.2994:0.0:0.4977	.	138	P58317	ZN121_HUMAN	P	138	ENSP00000326967:H138P	ENSP00000326967:H138P	H	-	2	0	ZNF121	9538376	1.000000	0.71417	0.000000	0.03702	0.000000	0.00434	1.462000	0.35266	-1.277000	0.02411	-0.608000	0.04076	CAT		PASS	0.388	ZNF121-003	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000449910.1	NM_001008727		31	17	31	17	---	---	---	---
KEAP1	9817	broad.mit.edu	37	19	10602473	10602473	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2756-01A-01D-1522-08	TCGA-66-2756-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	472c95e6-eccb-4988-be16-fdace73b2ed8	ff4f5936-f847-42ad-aedf-6a6a7fff6002	g.chr19:10602473C>G	ENST00000171111.5	-	3	1652	c.1105G>C	c.(1105-1107)Gtg>Ctg	p.V369L	KEAP1_ENST00000393623.2_Missense_Mutation_p.V369L|CTC-429L19.3_ENST00000592671.1_RNA|KEAP1_ENST00000588024.1_5'Flank	NM_203500.1	NP_987096.1	Q14145	KEAP1_HUMAN	kelch-like ECH-associated protein 1	369					cellular response to interleukin-4 (GO:0071353)|in utero embryonic development (GO:0001701)|proteasomal ubiquitin-independent protein catabolic process (GO:0010499)|protein ubiquitination (GO:0016567)|regulation of epidermal cell differentiation (GO:0045604)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	Cul3-RING ubiquitin ligase complex (GO:0031463)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|microtubule organizing center (GO:0005815)|midbody (GO:0030496)|nucleus (GO:0005634)		p.V369L(1)		breast(3)|endometrium(2)|kidney(4)|large_intestine(4)|liver(2)|lung(69)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	92			OV - Ovarian serous cystadenocarcinoma(20;2.71e-09)|Epithelial(33;2.32e-06)|all cancers(31;1.42e-05)		Dimethyl fumarate(DB08908)	CCGCCCACCACGCAGCCGGCC	0.677																																						uc002moq.1																			1	Substitution - Missense(1)		lung(1)	lung(12)|breast(3)|ovary(1)|pancreas(1)	17						c.(1105-1107)GTG>CTG		kelch-like ECH-associated protein 1							18.0	17.0	17.0					19																	10602473		2172	4237	6409	SO:0001583	missense	9817				regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|midbody|nucleus	protein binding	g.chr19:10602473C>G	AF361886	CCDS12239.1	19p13.2	2013-01-30				ENSG00000079999		"""Kelch-like"", ""BTB/POZ domain containing"""	23177	protein-coding gene	gene with protein product	"""kelch-like family member 19"""	606016					Standard	NM_012289		Approved	KIAA0132, MGC10630, MGC1114, MGC20887, MGC4407, MGC9454, INrf2, KLHL19	uc002mor.1	Q14145		ENST00000171111.5:c.1105G>C	19.37:g.10602473C>G	ENSP00000171111:p.Val369Leu					KEAP1_uc002mop.1_Missense_Mutation_p.V87L|KEAP1_uc002mor.1_Missense_Mutation_p.V369L	p.V369L	NM_012289	NP_036421	Q14145	KEAP1_HUMAN	OV - Ovarian serous cystadenocarcinoma(20;2.71e-09)|Epithelial(33;2.32e-06)|all cancers(31;1.42e-05)		3	1261	-			369			Kelch 1.		B3KPD5|Q6LEP0|Q8WTX1|Q9BPY9	Missense_Mutation	SNP	ENST00000171111.5	37	c.1105G>C	CCDS12239.1	.	.	.	.	.	.	.	.	.	.	C	19.17	3.776416	0.70107	.	.	ENSG00000079999	ENST00000171111;ENST00000393623	D;D	0.82893	-1.66;-1.66	5.42	5.42	0.78866	Kelch-type beta propeller (1);	0.000000	0.85682	D	0.000000	D	0.85309	0.5667	M	0.83953	2.67	0.80722	D	1	B	0.17038	0.02	B	0.21917	0.037	T	0.83344	-0.0006	10	0.62326	D	0.03	.	16.7175	0.85400	0.0:1.0:0.0:0.0	.	369	Q14145	KEAP1_HUMAN	L	369	ENSP00000171111:V369L;ENSP00000377245:V369L	ENSP00000171111:V369L	V	-	1	0	KEAP1	10463473	1.000000	0.71417	1.000000	0.80357	0.773000	0.43773	7.190000	0.77755	2.560000	0.86352	0.655000	0.94253	GTG		PASS	0.677	KEAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452000.1	NM_012289		6	2	6	2	---	---	---	---
KANK2	25959	broad.mit.edu	37	19	11280921	11280921	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2756-01A-01D-1522-08	TCGA-66-2756-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	472c95e6-eccb-4988-be16-fdace73b2ed8	ff4f5936-f847-42ad-aedf-6a6a7fff6002	g.chr19:11280921C>G	ENST00000586659.1	-	11	2529	c.2215G>C	c.(2215-2217)Gga>Cga	p.G739R	KANK2_ENST00000589359.1_Missense_Mutation_p.G747R|KANK2_ENST00000587317.1_5'UTR|KANK2_ENST00000355150.5_Missense_Mutation_p.G739R|KANK2_ENST00000432929.2_Missense_Mutation_p.G747R|KANK2_ENST00000589894.1_Missense_Mutation_p.G739R			Q63ZY3	KANK2_HUMAN	KN motif and ankyrin repeat domains 2	739	Interaction with NCOA1.				apoptotic process (GO:0006915)|negative regulation of cell proliferation (GO:0008285)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)|negative regulation of programmed cell death (GO:0043069)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)		p.G739R(1)		endometrium(2)|large_intestine(1)|lung(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						GCCGTCTGTCCTGCCTGGGGA	0.612																																						uc010dxv.2																			1	Substitution - Missense(1)		lung(1)		0						c.(2215-2217)GGA>CGA		ankyrin repeat domain 25 isoform 1							43.0	41.0	42.0					19																	11280921		2203	4300	6503	SO:0001583	missense	25959							g.chr19:11280921C>G	AK000011	CCDS12255.1, CCDS54219.1	19p13.2	2013-01-10	2008-01-29	2008-01-29		ENSG00000197256		"""KN motif and ankyrin repeat domain containing"", ""Ankyrin repeat domain containing"""	29300	protein-coding gene	gene with protein product		614610	"""matrix-remodelling associated 3"", ""ankyrin repeat domain 25"""	MXRA3, ANKRD25		10819331, 17996375, 19554261	Standard	NM_015493		Approved	KIAA1518	uc002mqm.3	Q63ZY3		ENST00000586659.1:c.2215G>C	19.37:g.11280921C>G	ENSP00000465650:p.Gly739Arg					KANK2_uc002mqm.2_Missense_Mutation_p.G747R|KANK2_uc002mqo.3_Missense_Mutation_p.G739R|KANK2_uc002mqp.1_Missense_Mutation_p.G548R	p.G739R	NM_015493	NP_056308	Q63ZY3	KANK2_HUMAN			13	2773	-			739			ANK 3.		B0I1P4|Q3KQZ3|Q6GUF5|Q9H8S4|Q9NUP0|Q9P210	Missense_Mutation	SNP	ENST00000586659.1	37	c.2215G>C	CCDS12255.1	.	.	.	.	.	.	.	.	.	.	C	26.4	4.737488	0.89482	.	.	ENSG00000197256	ENST00000432929;ENST00000355150	T;T	0.64618	-0.11;-0.11	5.2	5.2	0.72013	Ankyrin repeat-containing domain (4);	0.000000	0.64402	D	0.000001	T	0.79499	0.4456	M	0.73962	2.25	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	T	0.81688	-0.0819	10	0.66056	D	0.02	-31.9261	17.4881	0.87694	0.0:1.0:0.0:0.0	.	739;747	Q63ZY3;Q63ZY3-2	KANK2_HUMAN;.	R	747;739	ENSP00000395650:G747R;ENSP00000347276:G739R	ENSP00000347276:G739R	G	-	1	0	KANK2	11141921	1.000000	0.71417	0.997000	0.53966	0.880000	0.50808	5.962000	0.70364	2.431000	0.82371	0.484000	0.47621	GGA		PASS	0.612	KANK2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000453066.2	NM_015493		22	10	22	10	---	---	---	---
PRKCSH	5589	broad.mit.edu	37	19	11547248	11547248	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2756-01A-01D-1522-08	TCGA-66-2756-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	472c95e6-eccb-4988-be16-fdace73b2ed8	ff4f5936-f847-42ad-aedf-6a6a7fff6002	g.chr19:11547248C>G	ENST00000589838.1	+	2	118	c.118C>G	c.(118-120)Ctg>Gtg	p.L40V	PRKCSH_ENST00000592741.1_Missense_Mutation_p.L40V|PRKCSH_ENST00000587327.1_Missense_Mutation_p.L40V|CCDC151_ENST00000586836.1_5'Flank|CCDC151_ENST00000356392.4_5'Flank|PRKCSH_ENST00000252455.2_Missense_Mutation_p.L40V|PRKCSH_ENST00000412601.1_Missense_Mutation_p.L40V|snoU13_ENST00000459022.1_RNA|CCDC151_ENST00000545100.1_5'Flank|CCDC151_ENST00000591179.1_5'Flank|PRKCSH_ENST00000591462.1_Missense_Mutation_p.L40V			P14314	GLU2B_HUMAN	protein kinase C substrate 80K-H	40					cellular protein metabolic process (GO:0044267)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|liver development (GO:0001889)|N-glycan processing (GO:0006491)|negative regulation of neuron projection development (GO:0010977)|nitrogen compound metabolic process (GO:0006807)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)|protein heterooligomerization (GO:0051291)|protein N-linked glycosylation via asparagine (GO:0018279)|renal system development (GO:0072001)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|intracellular (GO:0005622)	calcium ion binding (GO:0005509)|ion channel binding (GO:0044325)|phosphoprotein binding (GO:0051219)|protein kinase C binding (GO:0005080)|RNA binding (GO:0003723)	p.L40V(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|pancreas(1)|prostate(3)	19						TTTCACCTGCCTGGACGGTTC	0.542																																						uc002mrt.2																			1	Substitution - Missense(1)		lung(1)		0						c.(118-120)CTG>GTG		protein kinase C substrate 80K-H isoform 1							116.0	89.0	98.0					19																	11547248		2203	4300	6503	SO:0001583	missense	5589				innate immune response|intracellular protein kinase cascade|post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	endoplasmic reticulum lumen	calcium ion binding|protein kinase C binding	g.chr19:11547248C>G		CCDS32911.1, CCDS45977.1, CCDS74286.1	19p13.2	2014-01-30			ENSG00000130175	ENSG00000130175	2.7.11.1	"""EF-hand domain containing"""	9411	protein-coding gene	gene with protein product		177060	"""polycystic liver disease"""	G19P1, PCLD, PLD1		12529853	Standard	NM_002743		Approved		uc002mrt.3	P14314	OTTHUMG00000182029	ENST00000589838.1:c.118C>G	19.37:g.11547248C>G	ENSP00000465461:p.Leu40Val					CCDC151_uc002mrs.2_5'Flank|CCDC151_uc010dxz.2_5'Flank|PRKCSH_uc002mru.2_Missense_Mutation_p.L40V|PRKCSH_uc010xlz.1_Missense_Mutation_p.L40V|PRKCSH_uc010dya.2_Silent_p.A8A|PRKCSH_uc002mrv.1_Missense_Mutation_p.L40V|PRKCSH_uc010dyb.2_Missense_Mutation_p.L40V	p.L40V	NM_002743	NP_002734	P14314	GLU2B_HUMAN			3	454	+			40					A8K318|Q96BU9|Q96D06|Q9P0W9	Missense_Mutation	SNP	ENST00000589838.1	37	c.118C>G	CCDS32911.1	.	.	.	.	.	.	.	.	.	.	C	20.4	3.978169	0.74360	.	.	ENSG00000130175	ENST00000252455;ENST00000412601	T;T	0.80393	-1.37;-1.37	4.38	3.34	0.38264	.	0.000000	0.64402	D	0.000001	D	0.87026	0.6075	M	0.74546	2.27	0.80722	D	1	D;D;D	0.76494	0.999;0.975;0.997	D;D;D	0.68192	0.956;0.934;0.956	D	0.86253	0.1650	10	0.54805	T	0.06	-14.0281	10.2443	0.43332	0.0:0.8971:0.0:0.1029	.	40;40;40	E7EQZ9;A8K318;P14314	.;.;GLU2B_HUMAN	V	40	ENSP00000252455:L40V;ENSP00000395616:L40V	ENSP00000252455:L40V	L	+	1	2	PRKCSH	11408248	1.000000	0.71417	0.997000	0.53966	0.651000	0.38670	3.414000	0.52693	0.813000	0.34350	0.462000	0.41574	CTG		PASS	0.542	PRKCSH-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000458817.1			43	14	43	14	---	---	---	---
ZNF443	10224	broad.mit.edu	37	19	12542492	12542492	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2756-01A-01D-1522-08	TCGA-66-2756-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	472c95e6-eccb-4988-be16-fdace73b2ed8	ff4f5936-f847-42ad-aedf-6a6a7fff6002	g.chr19:12542492C>A	ENST00000301547.5	-	4	691	c.494G>T	c.(493-495)gGa>gTa	p.G165V	CTD-3105H18.16_ENST00000595562.1_Intron	NM_005815.4	NP_005806	Q9Y2A4	ZN443_HUMAN	zinc finger protein 443	165					apoptotic process (GO:0006915)|regulation of transcription, DNA-templated (GO:0006355)|response to stress (GO:0006950)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.G165V(1)		breast(3)|endometrium(1)|kidney(1)|large_intestine(11)|lung(10)|pancreas(1)|prostate(1)	28						TGGTTTCTTTCCAGTGTGAAG	0.428																																						uc002mtu.2																			1	Substitution - Missense(1)		lung(1)	pancreas(1)	1						c.(493-495)GGA>GTA		zinc finger protein 443							162.0	152.0	155.0					19																	12542492		2203	4300	6503	SO:0001583	missense	10224				induction of apoptosis|regulation of transcription, DNA-dependent|response to stress|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:12542492C>A	AB011414	CCDS32918.1	19p13.13	2013-01-08			ENSG00000180855	ENSG00000180855		"""Zinc fingers, C2H2-type"", ""-"""	20878	protein-coding gene	gene with protein product		606697				9731181	Standard	NM_005815		Approved	ZK1	uc002mtu.3	Q9Y2A4	OTTHUMG00000156404	ENST00000301547.5:c.494G>T	19.37:g.12542492C>A	ENSP00000301547:p.Gly165Val						p.G165V	NM_005815	NP_005806	Q9Y2A4	ZN443_HUMAN			4	692	-			165						Missense_Mutation	SNP	ENST00000301547.5	37	c.494G>T	CCDS32918.1	.	.	.	.	.	.	.	.	.	.	C	13.65	2.301944	0.40694	.	.	ENSG00000180855	ENST00000301547;ENST00000411622	T	0.23552	1.9	1.08	1.08	0.20341	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.50871	0.1641	M	0.87617	2.895	0.40705	D	0.982519	D	0.89917	1.0	D	0.77004	0.989	T	0.58440	-0.7636	9	0.66056	D	0.02	.	9.741	0.40418	0.0:1.0:0.0:0.0	.	165	Q9Y2A4	ZN443_HUMAN	V	165	ENSP00000301547:G165V	ENSP00000301547:G165V	G	-	2	0	ZNF443	12403492	0.000000	0.05858	0.012000	0.15200	0.159000	0.22180	-0.197000	0.09518	0.896000	0.36366	0.461000	0.40582	GGA		PASS	0.428	ZNF443-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344084.1	NM_005815		100	46	100	46	---	---	---	---
MAST1	22983	broad.mit.edu	37	19	12963060	12963060	+	Splice_Site	SNP	A	A	T			TCGA-66-2756-01A-01D-1522-08	TCGA-66-2756-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	472c95e6-eccb-4988-be16-fdace73b2ed8	ff4f5936-f847-42ad-aedf-6a6a7fff6002	g.chr19:12963060A>T	ENST00000251472.4	+	9	1047	c.1008A>T	c.(1006-1008)ccA>ccT	p.P336P	MAST1_ENST00000591495.1_Splice_Site_p.P332P	NM_014975.2	NP_055790.1			microtubule associated serine/threonine kinase 1									p.P336P(2)		NS(1)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|lung(20)|ovary(5)|prostate(5)|skin(3)	56						ACCCCTTTCCAGGTGCCGGCT	0.662																																						uc002mvm.2																			2	Substitution - coding silent(2)		lung(2)	ovary(3)|lung(2)|large_intestine(1)|skin(1)	7						c.(1006-1008)CCA>CCT		microtubule associated serine/threonine kinase							44.0	48.0	46.0					19																	12963060		2203	4300	6503	SO:0001630	splice_region_variant	22983				cytoskeleton organization|intracellular protein kinase cascade	cytoplasm|cytoskeleton|plasma membrane	ATP binding|magnesium ion binding|protein serine/threonine kinase activity	g.chr19:12963060A>T	AB023190	CCDS32921.1	19p13.2	2008-02-05				ENSG00000105613			19034	protein-coding gene	gene with protein product		612256					Standard	NM_014975		Approved	SAST, KIAA0973	uc002mvm.3	Q9Y2H9		ENST00000251472.4:c.1009+1A>T	19.37:g.12963060A>T						MAST1_uc002mvk.2_Silent_p.P332P	p.P336P	NM_014975	NP_055790	Q9Y2H9	MAST1_HUMAN			9	1136	+			336						Silent	SNP	ENST00000251472.4	37	c.1008A>T	CCDS32921.1																																																																																				PASS	0.662	MAST1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451733.2	NM_014975	Silent	26	13	26	13	---	---	---	---
KLHL26	55295	broad.mit.edu	37	19	18778777	18778777	+	Silent	SNP	G	G	C			TCGA-66-2756-01A-01D-1522-08	TCGA-66-2756-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	472c95e6-eccb-4988-be16-fdace73b2ed8	ff4f5936-f847-42ad-aedf-6a6a7fff6002	g.chr19:18778777G>C	ENST00000300976.4	+	3	660	c.570G>C	c.(568-570)cgG>cgC	p.R190R	KLHL26_ENST00000599006.1_Intron|KLHL26_ENST00000596843.1_3'UTR	NM_018316.1	NP_060786.1	Q53HC5	KLH26_HUMAN	kelch-like family member 26	190	BACK.							p.R190R(1)		breast(1)|central_nervous_system(1)|kidney(1)|lung(10)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	17						TCACCTTCCGGCACTTCCTGC	0.642																																						uc002njz.1																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(568-570)CGG>CGC		kelch-like 26							63.0	55.0	58.0					19																	18778777		2203	4300	6503	SO:0001819	synonymous_variant	55295							g.chr19:18778777G>C		CCDS12384.1	19p13.11	2013-10-15	2013-02-22		ENSG00000167487	ENSG00000167487		"""Kelch-like"", ""BTB/POZ domain containing"""	25623	protein-coding gene	gene with protein product			"""kelch-like 26 (Drosophila)"""				Standard	XM_006722785		Approved		uc002njz.1	Q53HC5	OTTHUMG00000183114	ENST00000300976.4:c.570G>C	19.37:g.18778777G>C							p.R190R	NM_018316	NP_060786	Q53HC5	KLH26_HUMAN			3	597	+			190			BACK.		Q8TAP0|Q9NUX3	Silent	SNP	ENST00000300976.4	37	c.570G>C	CCDS12384.1																																																																																				PASS	0.642	KLHL26-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465145.1	NM_018316		24	14	24	14	---	---	---	---
ZNF100	163227	broad.mit.edu	37	19	21910245	21910245	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2756-01A-01D-1522-08	TCGA-66-2756-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	472c95e6-eccb-4988-be16-fdace73b2ed8	ff4f5936-f847-42ad-aedf-6a6a7fff6002	g.chr19:21910245C>G	ENST00000358296.6	-	5	1067	c.869G>C	c.(868-870)aGa>aCa	p.R290T	ZNF100_ENST00000305570.6_Missense_Mutation_p.R226T	NM_173531.3	NP_775802.2	Q8IYN0	ZN100_HUMAN	zinc finger protein 100	290					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.R290T(1)		NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(11)|skin(1)|upper_aerodigestive_tract(1)	21						TTCTTCACATCTGTATGGTTT	0.398																																						uc002nqi.2																			1	Substitution - Missense(1)		lung(1)		0						c.(868-870)AGA>ACA		zinc finger protein 100							42.0	45.0	44.0					19																	21910245		2196	4293	6489	SO:0001583	missense	163227				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:21910245C>G	BC035579	CCDS42538.1	19p13.1	2013-01-08	2003-12-19		ENSG00000197020	ENSG00000197020		"""Zinc fingers, C2H2-type"", ""-"""	12880	protein-coding gene	gene with protein product		603982	"""zinc finger protein 100 (Y1)"""			12477932	Standard	NM_173531		Approved		uc002nqi.3	Q8IYN0		ENST00000358296.6:c.869G>C	19.37:g.21910245C>G	ENSP00000351042:p.Arg290Thr					ZNF100_uc002nqh.2_Missense_Mutation_p.R226T	p.R290T	NM_173531	NP_775802	Q8IYN0	ZN100_HUMAN			5	1068	-			290			C2H2-type 5.		Q7M4M0	Missense_Mutation	SNP	ENST00000358296.6	37	c.869G>C	CCDS42538.1	.	.	.	.	.	.	.	.	.	.	.	0.014	-1.606422	0.00842	.	.	ENSG00000197020	ENST00000358296	T	0.35421	1.31	0.841	-1.68	0.08212	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.22936	0.0554	N	0.25789	0.76	0.09310	N	1	B;B	0.09022	0.002;0.001	B;B	0.25405	0.006;0.06	T	0.24154	-1.0168	9	0.40728	T	0.16	.	5.6299	0.17504	0.0:0.4209:0.0:0.5791	.	290;344	Q8IYN0;Q4G131	ZN100_HUMAN;.	T	290	ENSP00000351042:R290T	ENSP00000351042:R290T	R	-	2	0	ZNF100	21702085	0.000000	0.05858	0.193000	0.23327	0.199000	0.23934	-2.454000	0.01004	-1.126000	0.02929	-1.125000	0.01998	AGA		PASS	0.398	ZNF100-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464087.1	NM_173531		42	20	42	20	---	---	---	---
ZNF536	9745	broad.mit.edu	37	19	30935660	30935660	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2756-01A-01D-1522-08	TCGA-66-2756-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	472c95e6-eccb-4988-be16-fdace73b2ed8	ff4f5936-f847-42ad-aedf-6a6a7fff6002	g.chr19:30935660C>A	ENST00000355537.3	+	2	1338	c.1191C>A	c.(1189-1191)aaC>aaA	p.N397K		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536	397					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.N397K(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)					TCCACCTCAACAAGCTGTCGG	0.612																																						uc002nsu.1																			1	Substitution - Missense(1)		lung(1)	ovary(7)|large_intestine(2)|skin(2)	11						c.(1189-1191)AAC>AAA		zinc finger protein 536							57.0	59.0	59.0					19																	30935660		2203	4300	6503	SO:0001583	missense	9745				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding	g.chr19:30935660C>A		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.1191C>A	19.37:g.30935660C>A	ENSP00000347730:p.Asn397Lys					ZNF536_uc010edd.1_Missense_Mutation_p.N397K	p.N397K	NM_014717	NP_055532	O15090	ZN536_HUMAN			2	1329	+	Esophageal squamous(110;0.0834)		397					A2RU18	Missense_Mutation	SNP	ENST00000355537.3	37	c.1191C>A	CCDS32984.1	.	.	.	.	.	.	.	.	.	.	C	13.22	2.172422	0.38315	.	.	ENSG00000198597	ENST00000355537	T	0.08193	3.12	5.44	5.44	0.79542	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.85682	D	0.000000	T	0.15739	0.0379	N	0.21194	0.64	0.54753	D	0.999988	D;D	0.76494	0.999;0.999	D;D	0.72338	0.977;0.977	T	0.02632	-1.1131	10	0.42905	T	0.14	-42.3623	13.0211	0.58787	0.0:0.9158:0.0:0.0842	.	397;397	A7E228;O15090	.;ZN536_HUMAN	K	397	ENSP00000347730:N397K	ENSP00000347730:N397K	N	+	3	2	ZNF536	35627500	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	2.508000	0.45450	2.535000	0.85469	0.591000	0.81541	AAC		PASS	0.612	ZNF536-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459667.2	NM_014717		47	70	47	70	---	---	---	---
ZNF382	84911	broad.mit.edu	37	19	37118176	37118176	+	Silent	SNP	G	G	T			TCGA-66-2756-01A-01D-1522-08	TCGA-66-2756-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	472c95e6-eccb-4988-be16-fdace73b2ed8	ff4f5936-f847-42ad-aedf-6a6a7fff6002	g.chr19:37118176G>T	ENST00000292928.2	+	5	1490	c.1377G>T	c.(1375-1377)acG>acT	p.T459T	ZNF382_ENST00000435416.1_Silent_p.T458T|CTD-3234P18.2_ENST00000585467.1_lincRNA|ZNF382_ENST00000423582.1_Silent_p.T410T|ZNF382_ENST00000439428.1_Silent_p.T458T	NM_001256838.1|NM_032825.4	NP_001243767.1|NP_116214.2	Q96SR6	ZN382_HUMAN	zinc finger protein 382	459	Required for transcriptional repression activity; probably mediates sequence- specific DNA-binding. {ECO:0000250}.				negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.T459T(3)		breast(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(9)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	34	Esophageal squamous(110;0.198)		COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065)			GAATTCACACGGGGGAAAAAC	0.438																																						uc002oek.2																			3	Substitution - coding silent(3)		lung(2)|large_intestine(1)		0						c.(1375-1377)ACG>ACT		zinc finger protein 382							46.0	51.0	49.0					19																	37118176		2203	4300	6503	SO:0001819	synonymous_variant	84911				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:37118176G>T	AF513816	CCDS33004.1, CCDS58659.1	19q13.13	2013-01-08			ENSG00000161298	ENSG00000161298		"""Zinc fingers, C2H2-type"", ""-"""	17409	protein-coding gene	gene with protein product		609516					Standard	NM_032825		Approved	FLJ14686, KS1	uc010efb.4	Q96SR6	OTTHUMG00000048153	ENST00000292928.2:c.1377G>T	19.37:g.37118176G>T						ZNF382_uc010efa.2_Silent_p.T410T|ZNF382_uc010efb.2_Silent_p.T458T|ZNF382_uc002oel.2_Silent_p.T458T	p.T459T	NM_032825	NP_116214	Q96SR6	ZN382_HUMAN	COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065)		5	1490	+	Esophageal squamous(110;0.198)		459			Required for transcriptional repression activity; probably mediates sequence- specific DNA-binding (By similarity).		A3KMP6|A8MT55|C9K0V5|Q53ZY8|Q5JPJ2	Silent	SNP	ENST00000292928.2	37	c.1377G>T	CCDS33004.1																																																																																				PASS	0.438	ZNF382-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000109562.2	NM_032825		32	65	32	65	---	---	---	---
ZNF461	92283	broad.mit.edu	37	19	37130209	37130209	+	Missense_Mutation	SNP	T	T	G			TCGA-66-2756-01A-01D-1522-08	TCGA-66-2756-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	472c95e6-eccb-4988-be16-fdace73b2ed8	ff4f5936-f847-42ad-aedf-6a6a7fff6002	g.chr19:37130209T>G	ENST00000588268.1	-	6	1265	c.1038A>C	c.(1036-1038)gaA>gaC	p.E346D	ZNF461_ENST00000360357.4_Missense_Mutation_p.E323D|ZNF461_ENST00000540605.2_5'UTR	NM_153257.2	NP_694989.2	Q8TAF7	ZN461_HUMAN	zinc finger protein 461	346					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.E219D(1)|p.E346D(1)		endometrium(4)|kidney(1)|large_intestine(4)|lung(17)|prostate(1)|urinary_tract(2)	29	Esophageal squamous(110;0.198)		COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065)			GTCGCAGGTGTTCAGTAAGTT	0.393																																						uc002oem.2																			2	Substitution - Missense(2)		lung(2)		0						c.(1036-1038)GAA>GAC		gonadotropin inducible transcription repressor							65.0	73.0	70.0					19																	37130209		2201	4298	6499	SO:0001583	missense	92283				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:37130209T>G	BX649031	CCDS54257.1, CCDS74348.1	19q13.13	2013-01-08				ENSG00000197808		"""Zinc fingers, C2H2-type"", ""-"""	21629	protein-coding gene	gene with protein product		608640				11579202, 15004467	Standard	XM_005259402		Approved	GIOT-1, MGC33911	uc002oem.3	Q8TAF7		ENST00000588268.1:c.1038A>C	19.37:g.37130209T>G	ENSP00000467931:p.Glu346Asp					ZNF461_uc002oen.2_Missense_Mutation_p.E315D|ZNF461_uc010xtj.1_Missense_Mutation_p.E323D	p.E346D	NM_153257	NP_694989	Q8TAF7	ZN461_HUMAN	COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065)		6	1266	-	Esophageal squamous(110;0.198)		346			C2H2-type 5.		A8K9W9|Q6VSF7|Q9ULZ8	Missense_Mutation	SNP	ENST00000588268.1	37	c.1038A>C	CCDS54257.1	.	.	.	.	.	.	.	.	.	.	T	5.184	0.219444	0.09863	.	.	ENSG00000197808	ENST00000396893;ENST00000396896;ENST00000360357;ENST00000540605	T	0.19394	2.15	3.48	1.25	0.21368	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.24851	0.0603	L	0.28400	0.85	0.21290	N	0.999739	P;P;B	0.41420	0.749;0.606;0.01	P;B;B	0.59546	0.859;0.253;0.009	T	0.20371	-1.0277	9	0.30854	T	0.27	.	3.1573	0.06509	0.1864:0.3332:0.0:0.4804	.	323;268;346	B4DRP8;Q59G30;Q8TAF7	.;.;ZN461_HUMAN	D	346;77;323;219	ENSP00000353515:E323D	ENSP00000353515:E323D	E	-	3	2	ZNF461	41822049	0.000000	0.05858	0.892000	0.35008	0.979000	0.70002	-1.719000	0.01873	0.074000	0.16767	0.402000	0.26972	GAA		PASS	0.393	ZNF461-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000453202.1	NM_153257		8	78	8	78	---	---	---	---
CATSPERG	57828	broad.mit.edu	37	19	38860826	38860826	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2756-01A-01D-1522-08	TCGA-66-2756-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	472c95e6-eccb-4988-be16-fdace73b2ed8	ff4f5936-f847-42ad-aedf-6a6a7fff6002	g.chr19:38860826C>G	ENST00000409235.3	+	28	3256	c.3141C>G	c.(3139-3141)aaC>aaG	p.N1047K	CATSPERG_ENST00000215069.4_3'UTR|CATSPERG_ENST00000410018.1_Missense_Mutation_p.N1007K	NM_021185.4	NP_067008.3	Q6ZRH7	CTSRG_HUMAN	catsper channel auxiliary subunit gamma	1047					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.N687K(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						CCTACTGCAACTACCAGCTCA	0.617																																						uc002oih.3																			1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(3139-3141)AAC>AAG		cation channel, sperm-associated, gamma							72.0	57.0	62.0					19																	38860826		2203	4300	6503	SO:0001583	missense	57828				cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane		g.chr19:38860826C>G	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.3141C>G	19.37:g.38860826C>G	ENSP00000386962:p.Asn1047Lys					CATSPERG_uc002oig.3_Missense_Mutation_p.N1007K|CATSPERG_uc002oif.3_Missense_Mutation_p.N687K|CATSPERG_uc010efw.2_RNA	p.N1047K	NM_021185	NP_067008	Q6ZRH7	CTSRG_HUMAN			28	3228	+			1047			Extracellular (Potential).		A6NEG6|Q659E1	Missense_Mutation	SNP	ENST00000409235.3	37	c.3141C>G	CCDS12514.2	.	.	.	.	.	.	.	.	.	.	C	18.93	3.728524	0.69074	.	.	ENSG00000099338	ENST00000410018;ENST00000409235;ENST00000409410	T;T	0.21543	2.01;2.0	5.89	3.45	0.39498	.	0.231161	0.30028	N	0.010599	T	0.11665	0.0284	N	0.14661	0.345	0.80722	D	1	B;B	0.32467	0.372;0.372	B;B	0.30316	0.114;0.114	T	0.10800	-1.0614	10	0.72032	D	0.01	-30.9966	8.8976	0.35474	0.0:0.8056:0.0:0.1944	.	1047;1007	Q6ZRH7;B8ZZI7	CTSRG_HUMAN;.	K	1007;1047;1047	ENSP00000387057:N1007K;ENSP00000386962:N1047K	ENSP00000386962:N1047K	N	+	3	2	CATSPERG	43552666	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	1.579000	0.36536	1.498000	0.48600	0.542000	0.68232	AAC		PASS	0.617	CATSPERG-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000330204.1	NM_021185		5	59	5	59	---	---	---	---
ACP7	390928	broad.mit.edu	37	19	39589135	39589135	+	Nonsense_Mutation	SNP	G	G	A			TCGA-66-2756-01A-01D-1522-08	TCGA-66-2756-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	472c95e6-eccb-4988-be16-fdace73b2ed8	ff4f5936-f847-42ad-aedf-6a6a7fff6002	g.chr19:39589135G>A	ENST00000331256.5	+	3	433	c.159G>A	c.(157-159)tgG>tgA	p.W53*	PAPL_ENST00000594229.1_Nonsense_Mutation_p.W53*	NM_001004318.2	NP_001004318.2	Q6ZNF0	PAPL_HUMAN		53						extracellular region (GO:0005576)	acid phosphatase activity (GO:0003993)|metal ion binding (GO:0046872)	p.W53*(1)									GGACCACATGGGTCCCAACCC	0.647																																						uc002oki.2																			1	Substitution - Nonsense(1)		lung(1)		0						c.(157-159)TGG>TGA		iron/zinc purple acid phosphatase-like protein							48.0	40.0	43.0					19																	39589135		2203	4300	6503	SO:0001587	stop_gained	390928					extracellular region	acid phosphatase activity|metal ion binding	g.chr19:39589135G>A																												ENST00000331256.5:c.159G>A	19.37:g.39589135G>A	ENSP00000327557:p.Trp53*					PAPL_uc010egl.2_Nonsense_Mutation_p.W53*	p.W53*	NM_001004318	NP_001004318	Q6ZNF0	PAPL_HUMAN			3	433	+			53					B2RN68	Nonsense_Mutation	SNP	ENST00000331256.5	37	c.159G>A	CCDS33018.1	.	.	.	.	.	.	.	.	.	.	G	37	6.129974	0.97310	.	.	ENSG00000183760	ENST00000331256	.	.	.	5.2	5.2	0.72013	.	0.203656	0.45126	D	0.000398	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.34782	T	0.22	-17.3855	11.3403	0.49529	0.0:0.0:0.8183:0.1817	.	.	.	.	X	53	.	ENSP00000327557:W53X	W	+	3	0	AC011443.1	44280975	1.000000	0.71417	0.998000	0.56505	0.683000	0.39861	2.146000	0.42216	2.418000	0.82041	0.655000	0.94253	TGG		PASS	0.647	PAPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463810.1			17	64	17	64	---	---	---	---
FCGBP	8857	broad.mit.edu	37	19	40357380	40357380	+	Silent	SNP	C	C	A			TCGA-66-2756-01A-01D-1522-08	TCGA-66-2756-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	472c95e6-eccb-4988-be16-fdace73b2ed8	ff4f5936-f847-42ad-aedf-6a6a7fff6002	g.chr19:40357380C>A	ENST00000221347.6	-	34	15940	c.15933G>T	c.(15931-15933)gtG>gtT	p.V5311V		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	5311	VWFD 13. {ECO:0000255|PROSITE- ProRule:PRU00580}.					extracellular vesicular exosome (GO:0070062)		p.V5311V(1)		NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			AACTTACCCACACACCCTTGT	0.527																																						uc002omp.3																			1	Substitution - coding silent(1)		lung(1)	ovary(4)|skin(4)|central_nervous_system(1)	9						c.(15931-15933)GTG>GTT		Fc fragment of IgG binding protein precursor							123.0	119.0	120.0					19																	40357380		2203	4300	6503	SO:0001819	synonymous_variant	8857					extracellular region	protein binding	g.chr19:40357380C>A	D84239		19q13.2	2013-09-20			ENSG00000090920	ENSG00000275395			13572	protein-coding gene	gene with protein product	"""IgG Fc binding protein"", ""Human Fc gamma BP"""					9182547	Standard	NM_003890		Approved	FC(GAMMA)BP	uc002omp.4	Q9Y6R7	OTTHUMG00000182580	ENST00000221347.6:c.15933G>T	19.37:g.40357380C>A							p.V5311V	NM_003890	NP_003881	Q9Y6R7	FCGBP_HUMAN	Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)		34	15941	-	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		5311			VWFD 13.		O95784	Silent	SNP	ENST00000221347.6	37	c.15933G>T	CCDS12546.1																																																																																				PASS	0.527	FCGBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462507.1	NM_003890		30	52	30	52	---	---	---	---
FCGBP	8857	broad.mit.edu	37	19	40368654	40368654	+	Missense_Mutation	SNP	T	T	C			TCGA-66-2756-01A-01D-1522-08	TCGA-66-2756-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	472c95e6-eccb-4988-be16-fdace73b2ed8	ff4f5936-f847-42ad-aedf-6a6a7fff6002	g.chr19:40368654T>C	ENST00000221347.6	-	28	12701	c.12694A>G	c.(12694-12696)Aat>Gat	p.N4232D		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	4232	VWFD 10. {ECO:0000255|PROSITE- ProRule:PRU00580}.					extracellular vesicular exosome (GO:0070062)		p.N4232D(1)		NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			AGTGTGCCATTAGGGAAGACC	0.642																																						uc002omp.3																			1	Substitution - Missense(1)		lung(1)	ovary(4)|skin(4)|central_nervous_system(1)	9						c.(12694-12696)AAT>GAT		Fc fragment of IgG binding protein precursor							24.0	27.0	26.0					19																	40368654		2202	4277	6479	SO:0001583	missense	8857					extracellular region	protein binding	g.chr19:40368654T>C	D84239		19q13.2	2013-09-20			ENSG00000090920	ENSG00000275395			13572	protein-coding gene	gene with protein product	"""IgG Fc binding protein"", ""Human Fc gamma BP"""					9182547	Standard	NM_003890		Approved	FC(GAMMA)BP	uc002omp.4	Q9Y6R7	OTTHUMG00000182580	ENST00000221347.6:c.12694A>G	19.37:g.40368654T>C	ENSP00000221347:p.Asn4232Asp						p.N4232D	NM_003890	NP_003881	Q9Y6R7	FCGBP_HUMAN	Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)		28	12702	-	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		4232			VWFD 10.		O95784	Missense_Mutation	SNP	ENST00000221347.6	37	c.12694A>G	CCDS12546.1	.	.	.	.	.	.	.	.	.	.	T	5.974	0.363648	0.11296	.	.	ENSG00000090920	ENST00000221347	T	0.58060	0.36	3.92	3.92	0.45320	von Willebrand factor, type D domain (3);	.	.	.	.	T	0.32224	0.0822	N	0.12961	0.28	0.19945	N	0.999949	B	0.20887	0.049	B	0.22386	0.039	T	0.14727	-1.0462	9	0.21014	T	0.42	.	7.1839	0.25789	0.0:0.1053:0.0:0.8947	.	4232	Q9Y6R7	FCGBP_HUMAN	D	4232	ENSP00000221347:N4232D	ENSP00000221347:N4232D	N	-	1	0	FCGBP	45060494	0.000000	0.05858	0.642000	0.29436	0.125000	0.20455	-0.075000	0.11431	1.785000	0.52413	0.254000	0.18369	AAT		PASS	0.642	FCGBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462507.1	NM_003890		28	245	28	245	---	---	---	---
CYP2F1	1572	broad.mit.edu	37	19	41630695	41630695	+	Missense_Mutation	SNP	A	A	T			TCGA-66-2756-01A-01D-1522-08	TCGA-66-2756-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	472c95e6-eccb-4988-be16-fdace73b2ed8	ff4f5936-f847-42ad-aedf-6a6a7fff6002	g.chr19:41630695A>T	ENST00000331105.2	+	8	1108	c.1036A>T	c.(1036-1038)Atg>Ttg	p.M346L		NM_000774.3	NP_000765.2	P24903	CP2F1_HUMAN	cytochrome P450, family 2, subfamily F, polypeptide 1	346					naphthalene metabolic process (GO:0018931)|response to toxic substance (GO:0009636)|small molecule metabolic process (GO:0044281)|trichloroethylene metabolic process (GO:0018979)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|intracellular membrane-bounded organelle (GO:0043231)	aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen (GO:0016712)|oxygen binding (GO:0019825)	p.M346L(1)		central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(4)|liver(2)|lung(11)|ovary(2)|skin(2)	29						CCGCGCGGCCATGCCTTACAC	0.677																																						uc002opu.1																			1	Substitution - Missense(1)		lung(1)		0						c.(1036-1038)ATG>TTG		cytochrome P450, family 2, subfamily F,							27.0	25.0	26.0					19																	41630695		2202	4300	6502	SO:0001583	missense	1572				naphthalene metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding	g.chr19:41630695A>T	J02906	CCDS12572.1	19q13.1-q13.2	2008-02-05	2003-01-14		ENSG00000197446	ENSG00000197446		"""Cytochrome P450s"""	2632	protein-coding gene	gene with protein product		124070	"""cytochrome P450, subfamily IIF, polypeptide 1"""	CYP2F			Standard	NM_000774		Approved		uc002opu.1	P24903	OTTHUMG00000167412	ENST00000331105.2:c.1036A>T	19.37:g.41630695A>T	ENSP00000333534:p.Met346Leu					CYP2F1_uc010xvw.1_Intron|CYP2F1_uc010xvv.1_3'UTR|CYP2F1_uc002opv.1_RNA	p.M346L	NM_000774	NP_000765	P24903	CP2F1_HUMAN			8	1092	+			346					A7KAU6|A7KAU7|A7KAU8|A7KAU9|A7KAV0|Q32MN5|Q8WWJ2	Missense_Mutation	SNP	ENST00000331105.2	37	c.1036A>T	CCDS12572.1	.	.	.	.	.	.	.	.	.	.	a	9.850	1.193294	0.22037	.	.	ENSG00000197446	ENST00000331105	T	0.67345	-0.26	3.13	3.13	0.36017	.	0.061276	0.64402	U	0.000005	T	0.47820	0.1466	N	0.17082	0.46	0.26314	N	0.977788	B	0.14805	0.011	B	0.15870	0.014	T	0.46582	-0.9181	10	0.56958	D	0.05	.	9.4531	0.38739	1.0:0.0:0.0:0.0	.	346	P24903	CP2F1_HUMAN	L	346	ENSP00000333534:M346L	ENSP00000333534:M346L	M	+	1	0	CYP2F1	46322535	0.472000	0.25870	0.982000	0.44146	0.418000	0.31294	1.165000	0.31822	1.322000	0.45245	0.076000	0.15429	ATG		PASS	0.677	CYP2F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394527.2			7	17	7	17	---	---	---	---
PSG7	5676	broad.mit.edu	37	19	43439811	43439811	+	RNA	SNP	G	G	C			TCGA-66-2756-01A-01D-1522-08	TCGA-66-2756-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	472c95e6-eccb-4988-be16-fdace73b2ed8	ff4f5936-f847-42ad-aedf-6a6a7fff6002	g.chr19:43439811G>C	ENST00000406070.2	-	0	271				PSG7_ENST00000446844.3_RNA|PSG7_ENST00000471557.1_RNA	NM_002783.2	NP_002774.2	Q13046	PSG7_HUMAN	pregnancy specific beta-1-glycoprotein 7 (gene/pseudogene)						female pregnancy (GO:0007565)	extracellular region (GO:0005576)							Prostate(69;0.00682)				AGATTCTGGGGCAAATTGTGG	0.448																																						uc002ovl.3																			0					0						c.(175-177)CCC>GCC		pregnancy specific beta-1-glycoprotein 7							145.0	152.0	150.0					19																	43439811		2201	4296	6497			5676				female pregnancy	extracellular region		g.chr19:43439811G>C			19q13.2	2013-01-29	2010-02-26		ENSG00000221878	ENSG00000221878		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	9524	protein-coding gene	gene with protein product		176396	"""pregnancy specific beta-1-glycoprotein 7"""				Standard	NM_002783		Approved		uc010xwl.2	Q13046	OTTHUMG00000151125		19.37:g.43439811G>C						PSG3_uc002ouf.2_Intron|PSG11_uc002ouw.2_Intron|PSG10_uc002ouv.1_Intron|PSG6_uc002ovh.1_Intron|PSG6_uc002ovi.2_Intron|PSG6_uc010xwk.1_Intron|PSG11_uc002ovk.1_Intron|PSG7_uc010xwl.1_Intron	p.P59A	NM_002783	NP_002774	Q13046	PSG7_HUMAN			2	277	-		Prostate(69;0.00682)	59			Ig-like V-type.		Q15232	Missense_Mutation	SNP	ENST00000406070.2	37	c.175C>G																																																																																					PASS	0.448	PSG7-001	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000321431.2	NM_001206650		109	204	109	204	---	---	---	---
PSG2	5670	broad.mit.edu	37	19	43585288	43585288	+	Missense_Mutation	SNP	G	G	C			TCGA-66-2756-01A-01D-1522-08	TCGA-66-2756-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	472c95e6-eccb-4988-be16-fdace73b2ed8	ff4f5936-f847-42ad-aedf-6a6a7fff6002	g.chr19:43585288G>C	ENST00000406487.1	-	2	273	c.175C>G	c.(175-177)Ccc>Gcc	p.P59A	PSG2_ENST00000491995.1_5'Flank	NM_031246.3	NP_112536.2	P11465	PSG2_HUMAN	pregnancy specific beta-1-glycoprotein 2	59	Ig-like V-type.				cell migration (GO:0016477)|female pregnancy (GO:0007565)	extracellular region (GO:0005576)		p.P59A(2)		central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(24)|ovary(1)|pancreas(2)|prostate(6)|stomach(2)|urinary_tract(2)	49		Prostate(69;0.00682)				AGATTCTGGGGCAAATTGTGG	0.448																																						uc002ovi.2																			2	Substitution - Missense(2)		lung(2)	ovary(1)|skin(1)	2						c.(175-177)CCC>GCC		SubName: Full=Putative uncharacterized protein PSG6;							113.0	115.0	114.0					19																	43585288		2203	4296	6499	SO:0001583	missense	5675				female pregnancy	extracellular region		g.chr19:43585288G>C		CCDS12616.1	19q13.1-q13.2	2013-01-29			ENSG00000242221	ENSG00000242221		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	9519	protein-coding gene	gene with protein product	"""pregnancy-specific beta-1 glycoprotein"", ""pregnancy-specific beta-1-glycoprotein 7"", ""carcinoembryonic antigen SG8"""	176391		PSBG2		2377620	Standard	NM_031246		Approved	PSGGB, PSG1, CEA	uc002ovr.3	P11465	OTTHUMG00000151547	ENST00000406487.1:c.175C>G	19.37:g.43585288G>C	ENSP00000385706:p.Pro59Ala					PSG6_uc010xwk.1_Intron|PSG2_uc002ovr.2_Missense_Mutation_p.P59A|PSG2_uc002ovq.3_Missense_Mutation_p.P59A|PSG2_uc010eiq.1_Missense_Mutation_p.P59A|PSG2_uc002ovs.3_Missense_Mutation_p.P59A|PSG2_uc002ovt.3_Missense_Mutation_p.P59A	p.P59A			Q00889	PSG6_HUMAN			2	268	-		Prostate(69;0.00899)	59			Ig-like V-type.		Q8TCD9|Q9UEA4|Q9UQ78	Missense_Mutation	SNP	ENST00000406487.1	37	c.175C>G	CCDS12616.1	.	.	.	.	.	.	.	.	.	.	N	9.751	1.167361	0.21621	.	.	ENSG00000242221	ENST00000406487;ENST00000329509;ENST00000401942;ENST00000406917	T	0.01584	4.75	0.569	0.569	0.17340	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.13500	0.0327	H	0.95187	3.635	0.09310	N	1	D;D	0.89917	0.993;1.0	D;D	0.97110	0.962;1.0	T	0.02333	-1.1175	8	0.87932	D	0	.	.	.	.	.	59;59	B5MCM8;P11465	.;PSG2_HUMAN	A	59	ENSP00000385706:P59A	ENSP00000332984:P59A	P	-	1	0	PSG2	48277128	0.000000	0.05858	0.030000	0.17652	0.078000	0.17371	0.018000	0.13422	0.567000	0.29293	0.184000	0.17185	CCC		PASS	0.448	PSG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323083.1	NM_031246		7	308	7	308	---	---	---	---
ZNF230	7773	broad.mit.edu	37	19	44514667	44514667	+	Missense_Mutation	SNP	A	A	T			TCGA-66-2756-01A-01D-1522-08	TCGA-66-2756-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	472c95e6-eccb-4988-be16-fdace73b2ed8	ff4f5936-f847-42ad-aedf-6a6a7fff6002	g.chr19:44514667A>T	ENST00000429154.2	+	5	704	c.476A>T	c.(475-477)cAg>cTg	p.Q159L		NM_006300.3	NP_006291.2	Q9UIE0	ZN230_HUMAN	zinc finger protein 230	159	KRNB.				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.Q159L(1)		NS(1)|breast(1)|endometrium(2)|large_intestine(2)|lung(10)|skin(1)|stomach(3)|urinary_tract(2)	22		Prostate(69;0.0352)				GATCCTCCTCAGCAGTTCCAC	0.433																																					GBM(175;914 2069 22996 47111 52600)	uc002oyb.1																			1	Substitution - Missense(1)		lung(1)		0						c.(475-477)CAG>CTG		zinc finger protein 230							149.0	144.0	146.0					19																	44514667		2203	4300	6503	SO:0001583	missense	7773				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:44514667A>T	U95044	CCDS33044.1	19q13.31	2013-01-08				ENSG00000159882		"""Zinc fingers, C2H2-type"", ""-"""	13024	protein-coding gene	gene with protein product							Standard	NM_006300		Approved	FDZF2	uc002oyb.1	Q9UIE0		ENST00000429154.2:c.476A>T	19.37:g.44514667A>T	ENSP00000409318:p.Gln159Leu						p.Q159L	NM_006300	NP_006291	Q9UIE0	ZN230_HUMAN			5	727	+		Prostate(69;0.0352)	159			KRNB.		O15322|Q504X7|Q86W84|Q9P1U6	Missense_Mutation	SNP	ENST00000429154.2	37	c.476A>T	CCDS33044.1	.	.	.	.	.	.	.	.	.	.	A	11.24	1.581150	0.28180	.	.	ENSG00000159882	ENST00000429154	T	0.15256	2.44	2.45	1.4	0.22301	.	.	.	.	.	T	0.15392	0.0371	L	0.45422	1.42	0.09310	N	0.99999	P	0.38020	0.615	B	0.41917	0.37	T	0.21280	-1.0250	9	0.56958	D	0.05	.	3.2403	0.06778	0.6625:0.0:0.1331:0.2044	.	159	Q9UIE0	ZN230_HUMAN	L	159	ENSP00000409318:Q159L	ENSP00000409318:Q159L	Q	+	2	0	ZNF230	49206507	0.003000	0.15002	0.001000	0.08648	0.177000	0.22998	1.305000	0.33493	0.172000	0.19760	0.172000	0.16884	CAG		PASS	0.433	ZNF230-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460456.1			95	154	95	154	---	---	---	---
PNMAL2	57469	broad.mit.edu	37	19	46998642	46998642	+	Silent	SNP	C	C	A			TCGA-66-2756-01A-01D-1522-08	TCGA-66-2756-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	472c95e6-eccb-4988-be16-fdace73b2ed8	ff4f5936-f847-42ad-aedf-6a6a7fff6002	g.chr19:46998642C>A	ENST00000377655.2	-	1	80	c.81G>T	c.(79-81)ccG>ccT	p.P27P	PNMAL2_ENST00000594749.1_Intron|AC011484.1_ENST00000377652.3_3'UTR|PNMAL2_ENST00000599531.1_Silent_p.P27P			Q9ULN7	PNML2_HUMAN	paraneoplastic Ma antigen family-like 2	27								p.P27P(1)		central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(4)	8		Ovarian(192;0.00965)|all_neural(266;0.0459)		OV - Ovarian serous cystadenocarcinoma(262;0.000322)|all cancers(93;0.00233)|GBM - Glioblastoma multiforme(486;0.0421)|Epithelial(262;0.0427)		ccaggccctccgggatgccgg	0.662																																						uc002pes.2																			1	Substitution - coding silent(1)		lung(1)	central_nervous_system(1)	1						c.(79-81)CCG>CCT		PNMA-like 2							37.0	41.0	40.0					19																	46998642		2076	4205	6281	SO:0001819	synonymous_variant	57469							g.chr19:46998642C>A	AB033009	CCDS59400.1	19q13.32	2014-02-12	2012-02-09		ENSG00000204851	ENSG00000204851		"""Paraneoplastic Ma antigens"""	29206	protein-coding gene	gene with protein product			"""PNMA-like 2"""			10574461	Standard	NM_020709		Approved	KIAA1183	uc002pes.2	Q9ULN7		ENST00000377655.2:c.81G>T	19.37:g.46998642C>A						uc002peu.1_3'UTR	p.P27P	NM_020709	NP_065760	Q9ULN7	PNML2_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000322)|all cancers(93;0.00233)|GBM - Glioblastoma multiforme(486;0.0421)|Epithelial(262;0.0427)	1	528	-		Ovarian(192;0.00965)|all_neural(266;0.0459)	27					C9JGD5|M0R374|Q08E79|Q0D2F9|Q6ZVD1	Silent	SNP	ENST00000377655.2	37	c.81G>T																																																																																					PASS	0.662	PNMAL2-201	KNOWN	basic	protein_coding	protein_coding		NM_020709		29	35	29	35	---	---	---	---
PRKD2	25865	broad.mit.edu	37	19	47207526	47207526	+	Silent	SNP	C	C	A			TCGA-66-2756-01A-01D-1522-08	TCGA-66-2756-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	472c95e6-eccb-4988-be16-fdace73b2ed8	ff4f5936-f847-42ad-aedf-6a6a7fff6002	g.chr19:47207526C>A	ENST00000291281.4	-	5	1014	c.789G>T	c.(787-789)gtG>gtT	p.V263V	PRKD2_ENST00000601806.1_Silent_p.V106V|PRKD2_ENST00000595515.1_Silent_p.V263V|PRKD2_ENST00000433867.1_Silent_p.V263V|PRKD2_ENST00000600194.1_Silent_p.V106V			Q9BZL6	KPCD2_HUMAN	protein kinase D2	263					angiogenesis (GO:0001525)|cell adhesion (GO:0007155)|cell death (GO:0008219)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|endothelial tube morphogenesis (GO:0061154)|intracellular signal transduction (GO:0035556)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of cell adhesion (GO:0045785)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of DNA biosynthetic process (GO:2000573)|positive regulation of endothelial cell chemotaxis (GO:2001028)|positive regulation of endothelial cell chemotaxis by VEGF-activated vascular endothelial growth factor receptor signaling pathway (GO:0038033)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast growth factor receptor signaling pathway (GO:0045743)|positive regulation of histone deacetylase activity (GO:1901727)|positive regulation of interleukin-2 production (GO:0032743)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of intracellular signal transduction (GO:1902533)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of T cell receptor signaling pathway (GO:0050862)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|T cell receptor signaling pathway (GO:0050852)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein kinase C activity (GO:0004697)|protein serine/threonine kinase activity (GO:0004674)	p.V263V(1)		central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(13)|ovary(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(1)	41		Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212)		OV - Ovarian serous cystadenocarcinoma(262;0.000189)|all cancers(93;0.000545)|Epithelial(262;0.0219)|GBM - Glioblastoma multiforme(486;0.0353)		AGGTGTGCGGCACCTTGACCT	0.597											OREG0025578	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc002pfh.2																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|central_nervous_system(2)|stomach(1)|large_intestine(1)|lung(1)	7						c.(787-789)GTG>GTT		protein kinase D2 isoform A							201.0	172.0	182.0					19																	47207526		2203	4300	6503	SO:0001819	synonymous_variant	25865				cell death|intracellular signal transduction|positive regulation of transcription from RNA polymerase II promoter|protein autophosphorylation|T cell receptor signaling pathway	cytoplasm|membrane|nucleus	ATP binding|metal ion binding|protein kinase C activity	g.chr19:47207526C>A	AF151021	CCDS12689.1, CCDS59401.1	19q13.2	2013-01-10				ENSG00000105287		"""Pleckstrin homology (PH) domain containing"""	17293	protein-coding gene	gene with protein product		607074				11042152, 11062248	Standard	NM_001079880		Approved	PKD2, HSPC187, DKFZP586E0820	uc002pfj.3	Q9BZL6		ENST00000291281.4:c.789G>T	19.37:g.47207526C>A			OREG0025578	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	945	PRKD2_uc002pfg.2_Silent_p.V106V|PRKD2_uc002pfi.2_Silent_p.V263V|PRKD2_uc002pfj.2_Silent_p.V263V|PRKD2_uc010xye.1_Silent_p.V263V|PRKD2_uc002pfk.2_Silent_p.V106V	p.V263V	NM_001079881	NP_001073350	Q9BZL6	KPCD2_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000189)|all cancers(93;0.000545)|Epithelial(262;0.0219)|GBM - Glioblastoma multiforme(486;0.0353)	6	1131	-		Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212)	263					Q8TB08|Q9P0T6|Q9Y3X8	Silent	SNP	ENST00000291281.4	37	c.789G>T	CCDS12689.1																																																																																				PASS	0.597	PRKD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466591.1	NM_016457		38	48	38	48	---	---	---	---
GRIN2D	2906	broad.mit.edu	37	19	48908234	48908234	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2756-01A-01D-1522-08	TCGA-66-2756-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	472c95e6-eccb-4988-be16-fdace73b2ed8	ff4f5936-f847-42ad-aedf-6a6a7fff6002	g.chr19:48908234C>A	ENST00000263269.3	+	3	797	c.709C>A	c.(709-711)Cgc>Agc	p.R237S		NM_000836.2	NP_000827.2	O15399	NMDE4_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2D	237					adult locomotory behavior (GO:0008344)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|regulation of sensory perception of pain (GO:0051930)|signal transduction (GO:0007165)|startle response (GO:0001964)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)	cell junction (GO:0030054)|dendrite (GO:0030425)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	extracellular-glutamate-gated ion channel activity (GO:0005234)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)	p.R237S(1)		autonomic_ganglia(1)|breast(6)|endometrium(2)|large_intestine(9)|lung(12)|ovary(5)|pancreas(1)|prostate(1)	37		all_epithelial(76;1.11e-06)|all_lung(116;5.79e-06)|Lung NSC(112;1.18e-05)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Breast(70;0.203)		all cancers(93;0.00014)|OV - Ovarian serous cystadenocarcinoma(262;0.000233)|Epithelial(262;0.0112)|GBM - Glioblastoma multiforme(486;0.0161)	Acamprosate(DB00659)|Acetylcysteine(DB06151)|Atomoxetine(DB00289)|Gabapentin(DB00996)|Ketobemidone(DB06738)|Milnacipran(DB04896)|Orphenadrine(DB01173)|Pentobarbital(DB00312)|Pethidine(DB00454)|Phenobarbital(DB01174)|Secobarbital(DB00418)	TGCCCAGCTCCGCAGTGTCAG	0.692																																						uc002pjc.3																			1	Substitution - Missense(1)		lung(1)	ovary(3)|breast(3)	6						c.(709-711)CGC>AGC		N-methyl-D-aspartate receptor subunit 2D	L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Orphenadrine(DB01173)						32.0	33.0	32.0					19																	48908234		2202	4298	6500	SO:0001583	missense	2906					cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|protein binding	g.chr19:48908234C>A	U77783	CCDS12719.1	19q13.33	2012-08-29			ENSG00000105464	ENSG00000105464		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4588	protein-coding gene	gene with protein product	"""N-methyl-d-aspartate receptor subunit 2D"""	602717		NMDAR2D		9480759, 9418891	Standard	NM_000836		Approved	GluN2D, EB11, NR2D	uc002pjc.4	O15399		ENST00000263269.3:c.709C>A	19.37:g.48908234C>A	ENSP00000263269:p.Arg237Ser						p.R237S	NM_000836	NP_000827	O15399	NMDE4_HUMAN		all cancers(93;0.00014)|OV - Ovarian serous cystadenocarcinoma(262;0.000233)|Epithelial(262;0.0112)|GBM - Glioblastoma multiforme(486;0.0161)	3	797	+		all_epithelial(76;1.11e-06)|all_lung(116;5.79e-06)|Lung NSC(112;1.18e-05)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Breast(70;0.203)	237			Extracellular (Potential).			Missense_Mutation	SNP	ENST00000263269.3	37	c.709C>A	CCDS12719.1	.	.	.	.	.	.	.	.	.	.	C	21.3	4.122116	0.77436	.	.	ENSG00000105464	ENST00000263269	D	0.83075	-1.68	4.94	3.82	0.43975	Extracellular ligand-binding receptor (1);	0.209163	0.35708	N	0.003039	T	0.72669	0.3489	L	0.38175	1.15	0.36444	D	0.865646	P	0.39964	0.697	B	0.33890	0.172	T	0.81111	-0.1081	10	0.87932	D	0	.	11.5259	0.50580	0.2972:0.7028:0.0:0.0	.	237	O15399	NMDE4_HUMAN	S	237	ENSP00000263269:R237S	ENSP00000263269:R237S	R	+	1	0	GRIN2D	53600046	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	2.749000	0.47492	2.457000	0.83068	0.561000	0.74099	CGC		PASS	0.692	GRIN2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466121.1			32	49	32	49	---	---	---	---
GRIN2D	2906	broad.mit.edu	37	19	48922880	48922880	+	Missense_Mutation	SNP	T	T	C			TCGA-66-2756-01A-01D-1522-08	TCGA-66-2756-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	472c95e6-eccb-4988-be16-fdace73b2ed8	ff4f5936-f847-42ad-aedf-6a6a7fff6002	g.chr19:48922880T>C	ENST00000263269.3	+	9	1988	c.1900T>C	c.(1900-1902)Tgg>Cgg	p.W634R		NM_000836.2	NP_000827.2	O15399	NMDE4_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2D	634					adult locomotory behavior (GO:0008344)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|regulation of sensory perception of pain (GO:0051930)|signal transduction (GO:0007165)|startle response (GO:0001964)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)	cell junction (GO:0030054)|dendrite (GO:0030425)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	extracellular-glutamate-gated ion channel activity (GO:0005234)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)	p.W634R(1)		autonomic_ganglia(1)|breast(6)|endometrium(2)|large_intestine(9)|lung(12)|ovary(5)|pancreas(1)|prostate(1)	37		all_epithelial(76;1.11e-06)|all_lung(116;5.79e-06)|Lung NSC(112;1.18e-05)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Breast(70;0.203)		all cancers(93;0.00014)|OV - Ovarian serous cystadenocarcinoma(262;0.000233)|Epithelial(262;0.0112)|GBM - Glioblastoma multiforme(486;0.0161)	Acamprosate(DB00659)|Acetylcysteine(DB06151)|Atomoxetine(DB00289)|Gabapentin(DB00996)|Ketobemidone(DB06738)|Milnacipran(DB04896)|Orphenadrine(DB01173)|Pentobarbital(DB00312)|Pethidine(DB00454)|Phenobarbital(DB01174)|Secobarbital(DB00418)	GAAATCCATCTGGCTGCTCTG	0.572																																						uc002pjc.3																			1	Substitution - Missense(1)		lung(1)	ovary(3)|breast(3)	6						c.(1900-1902)TGG>CGG		N-methyl-D-aspartate receptor subunit 2D	L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Orphenadrine(DB01173)						70.0	65.0	66.0					19																	48922880		2203	4300	6503	SO:0001583	missense	2906					cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|protein binding	g.chr19:48922880T>C	U77783	CCDS12719.1	19q13.33	2012-08-29			ENSG00000105464	ENSG00000105464		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4588	protein-coding gene	gene with protein product	"""N-methyl-d-aspartate receptor subunit 2D"""	602717		NMDAR2D		9480759, 9418891	Standard	NM_000836		Approved	GluN2D, EB11, NR2D	uc002pjc.4	O15399		ENST00000263269.3:c.1900T>C	19.37:g.48922880T>C	ENSP00000263269:p.Trp634Arg					GRIN2D_uc010elx.2_5'UTR	p.W634R	NM_000836	NP_000827	O15399	NMDE4_HUMAN		all cancers(93;0.00014)|OV - Ovarian serous cystadenocarcinoma(262;0.000233)|Epithelial(262;0.0112)|GBM - Glioblastoma multiforme(486;0.0161)	9	1988	+		all_epithelial(76;1.11e-06)|all_lung(116;5.79e-06)|Lung NSC(112;1.18e-05)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Breast(70;0.203)	634			Cytoplasmic (Potential).			Missense_Mutation	SNP	ENST00000263269.3	37	c.1900T>C	CCDS12719.1	.	.	.	.	.	.	.	.	.	.	T	22.8	4.331734	0.81690	.	.	ENSG00000105464	ENST00000263269	T	0.66280	-0.2	4.57	4.57	0.56435	Extracellular solute-binding protein, family 3 (1);Ionotropic glutamate receptor (2);	0.000000	0.85682	D	0.000000	T	0.81786	0.4896	M	0.90309	3.105	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.85799	0.1372	10	0.87932	D	0	.	13.3455	0.60571	0.0:0.0:0.0:1.0	.	634	O15399	NMDE4_HUMAN	R	634	ENSP00000263269:W634R	ENSP00000263269:W634R	W	+	1	0	GRIN2D	53614692	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.814000	0.86154	2.056000	0.61249	0.523000	0.50628	TGG		PASS	0.572	GRIN2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466121.1			39	64	39	64	---	---	---	---
DBP	1628	broad.mit.edu	37	19	49136751	49136751	+	Missense_Mutation	SNP	G	G	C			TCGA-66-2756-01A-01D-1522-08	TCGA-66-2756-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	472c95e6-eccb-4988-be16-fdace73b2ed8	ff4f5936-f847-42ad-aedf-6a6a7fff6002	g.chr19:49136751G>C	ENST00000222122.5	-	3	1155	c.712C>G	c.(712-714)Cag>Gag	p.Q238E	DBP_ENST00000601104.1_Missense_Mutation_p.Q238E|DBP_ENST00000593500.1_Missense_Mutation_p.Q36E|DBP_ENST00000599385.1_Missense_Mutation_p.Q36E	NM_001352.3	NP_001343.2	Q10586	DBP_HUMAN	D site of albumin promoter (albumin D-box) binding protein	238	Pro-rich (proline/acidic region (PAR)).				liver development (GO:0001889)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|rhythmic process (GO:0048511)	nucleus (GO:0005634)	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 regulatory region sequence-specific DNA binding (GO:0000977)	p.Q238E(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)	5		all_lung(116;0.000125)|Lung NSC(112;0.000202)|all_epithelial(76;0.000283)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;9.98e-05)|all cancers(93;0.000112)|GBM - Glioblastoma multiforme(486;0.00615)|Epithelial(262;0.0155)		ATGATTGGCTGGGGCTTAAGT	0.537																																						uc002pjx.3																			1	Substitution - Missense(1)		lung(1)		0						c.(712-714)CAG>GAG		D site of albumin promoter (albumin D-box)							247.0	251.0	249.0					19																	49136751		2203	4300	6503	SO:0001583	missense	1628				regulation of transcription from RNA polymerase II promoter|rhythmic process	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr19:49136751G>C	U06936	CCDS12728.1	19q13.33	2013-09-20			ENSG00000105516	ENSG00000105516			2697	protein-coding gene	gene with protein product		124097				1535333, 7835883	Standard	XR_243907		Approved	DABP	uc002pjx.4	Q10586	OTTHUMG00000183319	ENST00000222122.5:c.712C>G	19.37:g.49136751G>C	ENSP00000222122:p.Gln238Glu					DBP_uc002pjy.2_3'UTR|DBP_uc010elz.1_Missense_Mutation_p.Q238E	p.Q238E	NM_001352	NP_001343	Q10586	DBP_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;9.98e-05)|all cancers(93;0.000112)|GBM - Glioblastoma multiforme(486;0.00615)|Epithelial(262;0.0155)	3	1100	-		all_lung(116;0.000125)|Lung NSC(112;0.000202)|all_epithelial(76;0.000283)|all_neural(266;0.0506)|Ovarian(192;0.113)	238			Pro-rich (proline/acidic region (PAR)).		A2I2P4	Missense_Mutation	SNP	ENST00000222122.5	37	c.712C>G	CCDS12728.1	.	.	.	.	.	.	.	.	.	.	G	25.6	4.657834	0.88154	.	.	ENSG00000105516	ENST00000222122	.	.	.	4.9	4.9	0.64082	.	0.000000	0.85682	U	0.000000	T	0.79452	0.4448	M	0.84326	2.69	0.80722	D	1	D	0.62365	0.991	D	0.64877	0.93	T	0.83092	-0.0132	9	0.87932	D	0	-10.4714	15.9611	0.79930	0.0:0.0:1.0:0.0	.	238	Q10586	DBP_HUMAN	E	238	.	ENSP00000222122:Q238E	Q	-	1	0	DBP	53828563	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.808000	0.99193	2.443000	0.82685	0.655000	0.94253	CAG		PASS	0.537	DBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466167.1	NM_001352		100	494	100	494	---	---	---	---
TEAD2	8463	broad.mit.edu	37	19	49863137	49863137	+	Missense_Mutation	SNP	G	G	A			TCGA-66-2756-01A-01D-1522-08	TCGA-66-2756-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	472c95e6-eccb-4988-be16-fdace73b2ed8	ff4f5936-f847-42ad-aedf-6a6a7fff6002	g.chr19:49863137G>A	ENST00000311227.2	-	2	286	c.196C>T	c.(196-198)Cgg>Tgg	p.R66W	DKKL1_ENST00000594268.1_5'Flank|TEAD2_ENST00000598397.1_5'Flank|TEAD2_ENST00000593945.1_Missense_Mutation_p.R66W|TEAD2_ENST00000377214.4_Missense_Mutation_p.R66W|TEAD2_ENST00000598810.1_Missense_Mutation_p.R66W|TEAD2_ENST00000539846.1_Intron|TEAD2_ENST00000601519.1_Missense_Mutation_p.R66W|AC010524.4_ENST00000596488.1_RNA	NM_001256659.1|NM_003598.1	NP_001243588.1|NP_003589.1	Q15562	TEAD2_HUMAN	TEA domain family member 2	66					gene expression (GO:0010467)|hippo signaling (GO:0035329)|regulation of transcription, DNA-templated (GO:0006355)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.R66W(1)		central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)	29		all_lung(116;7.65e-05)|Lung NSC(112;0.000132)|all_neural(266;0.0506)|Ovarian(192;0.15)		OV - Ovarian serous cystadenocarcinoma(262;0.00093)|GBM - Glioblastoma multiforme(486;0.0467)		ATTATTTTCCGGCGGCCGCAG	0.557																																						uc002pnj.2																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(2)|ovary(1)	3						c.(196-198)CGG>TGG		TEA domain family member 2							89.0	109.0	102.0					19																	49863137		2203	4300	6503	SO:0001583	missense	8463				hippo signaling cascade		DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr19:49863137G>A	X94440	CCDS12761.1, CCDS58670.1, CCDS58671.1, CCDS59406.1	19q13.3	2008-07-22							11715	protein-coding gene	gene with protein product		601729				9889009, 8702974	Standard	NM_003598		Approved	TEF-4, ETF, TEF4	uc031rls.1	Q15562		ENST00000311227.2:c.196C>T	19.37:g.49863137G>A	ENSP00000310701:p.Arg66Trp					TEAD2_uc002png.2_Missense_Mutation_p.R66W|TEAD2_uc002pnh.2_Missense_Mutation_p.R66W|TEAD2_uc002pni.2_Missense_Mutation_p.R66W|TEAD2_uc010yao.1_Intron|TEAD2_uc010emw.2_Missense_Mutation_p.R66W	p.R66W	NM_003598	NP_003589	Q15562	TEAD2_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00093)|GBM - Glioblastoma multiforme(486;0.0467)	2	287	-		all_lung(116;7.65e-05)|Lung NSC(112;0.000132)|all_neural(266;0.0506)|Ovarian(192;0.15)	66			TEA.		B4DTJ6|M0R1T9|Q8NA25|Q96IG3	Missense_Mutation	SNP	ENST00000311227.2	37	c.196C>T	CCDS12761.1	.	.	.	.	.	.	.	.	.	.	G	20.2	3.942239	0.73672	.	.	ENSG00000074219	ENST00000311227;ENST00000377214	T;T	0.49432	0.78;0.78	5.54	4.49	0.54785	.	0.091222	0.46442	D	0.000285	T	0.68586	0.3017	M	0.79475	2.455	0.80722	D	1	D;D	0.89917	1.0;0.999	D;P	0.97110	1.0;0.873	T	0.73688	-0.3904	10	0.87932	D	0	-30.1957	13.8376	0.63419	0.0:0.0:0.8458:0.1542	.	66;66	Q15562;Q8NA25	TEAD2_HUMAN;.	W	66	ENSP00000310701:R66W;ENSP00000366419:R66W	ENSP00000310701:R66W	R	-	1	2	TEAD2	54554949	1.000000	0.71417	0.986000	0.45419	0.849000	0.48306	3.525000	0.53502	1.461000	0.47929	0.655000	0.94253	CGG		PASS	0.557	TEAD2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000465465.1	NM_003598		38	119	38	119	---	---	---	---
IL4I1	259307	broad.mit.edu	37	19	50393834	50393834	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2756-01A-01D-1522-08	TCGA-66-2756-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	472c95e6-eccb-4988-be16-fdace73b2ed8	ff4f5936-f847-42ad-aedf-6a6a7fff6002	g.chr19:50393834C>A	ENST00000391826.2	-	8	939	c.797G>T	c.(796-798)tGg>tTg	p.W266L	IL4I1_ENST00000341114.3_Missense_Mutation_p.W288L|MIR4750_ENST00000584564.1_RNA|IL4I1_ENST00000595948.1_Missense_Mutation_p.W288L	NM_152899.1	NP_690863.1	Q96RQ9	OXLA_HUMAN	interleukin 4 induced 1	266						extracellular region (GO:0005576)|lysosome (GO:0005764)	L-amino-acid oxidase activity (GO:0001716)	p.W288L(1)		endometrium(3)|large_intestine(3)|lung(6)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	16		all_lung(116;1.47e-05)|all_neural(266;0.0459)|Ovarian(192;0.0481)		GBM - Glioblastoma multiforme(134;0.00245)|OV - Ovarian serous cystadenocarcinoma(262;0.0169)	Flavin adenine dinucleotide(DB03147)	CAGCAGGTCCCAGCCACCCAC	0.736																																						uc002pqt.1																			1	Substitution - Missense(1)		lung(1)	lung(1)|ovary(1)|prostate(1)	3						c.(796-798)TGG>TTG		interleukin 4 induced 1 isoform 1 precursor							8.0	8.0	8.0					19																	50393834		2173	4246	6419	SO:0001583	missense	259307					lysosome	L-amino-acid oxidase activity	g.chr19:50393834C>A	AF293462	CCDS12786.1, CCDS12787.1	19q13.3-q13.4	2014-06-26				ENSG00000104951			19094	protein-coding gene	gene with protein product		609742				12031486	Standard	NM_152899		Approved	FIG1	uc002pqt.1	Q96RQ9		ENST00000391826.2:c.797G>T	19.37:g.50393834C>A	ENSP00000375702:p.Trp266Leu					IL4I1_uc002pqv.1_Missense_Mutation_p.W275L|IL4I1_uc010eno.1_Missense_Mutation_p.W274L|IL4I1_uc002pqw.1_Missense_Mutation_p.W274L|IL4I1_uc002pqu.1_Missense_Mutation_p.W288L	p.W266L	NM_152899	NP_690863	Q96RQ9	OXLA_HUMAN		GBM - Glioblastoma multiforme(134;0.00245)|OV - Ovarian serous cystadenocarcinoma(262;0.0169)	8	875	-		all_lung(116;1.47e-05)|all_neural(266;0.0459)|Ovarian(192;0.0481)	266					Q1WMJ3|Q4GZN1|Q4GZN2|Q6P2Q3|Q8TEM5|Q96RQ8	Missense_Mutation	SNP	ENST00000391826.2	37	c.797G>T	CCDS12787.1	.	.	.	.	.	.	.	.	.	.	C	15.49	2.849496	0.51270	.	.	ENSG00000104951	ENST00000341114;ENST00000391826	T;T	0.08008	3.14;3.14	4.24	3.18	0.36537	Amine oxidase (1);	0.543501	0.19465	N	0.113611	T	0.07683	0.0193	L	0.46157	1.445	0.33034	D	0.530529	P;P;P	0.38827	0.597;0.649;0.649	B;B;B	0.36244	0.14;0.22;0.22	T	0.21211	-1.0252	10	0.24483	T	0.36	-12.6054	9.1059	0.36698	0.2187:0.7813:0.0:0.0	.	288;288;266	Q96RQ9-2;Q1WMJ3;Q96RQ9	.;.;OXLA_HUMAN	L	288;266	ENSP00000342557:W288L;ENSP00000375702:W266L	ENSP00000342557:W288L	W	-	2	0	IL4I1	55085646	1.000000	0.71417	1.000000	0.80357	0.944000	0.59088	1.275000	0.33144	0.977000	0.38444	0.436000	0.28706	TGG		PASS	0.736	IL4I1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466413.1			4	3	4	3	---	---	---	---
LRRC4B	94030	broad.mit.edu	37	19	51021381	51021381	+	Missense_Mutation	SNP	G	G	A			TCGA-66-2756-01A-01D-1522-08	TCGA-66-2756-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	472c95e6-eccb-4988-be16-fdace73b2ed8	ff4f5936-f847-42ad-aedf-6a6a7fff6002	g.chr19:51021381G>A	ENST00000599957.1	-	3	1786	c.1589C>T	c.(1588-1590)gCg>gTg	p.A530V	LRRC4B_ENST00000389201.3_Missense_Mutation_p.A530V			Q9NT99	LRC4B_HUMAN	leucine rich repeat containing 4B	530	Gly-rich.				positive regulation of synapse assembly (GO:0051965)	cell junction (GO:0030054)|cerebellar mossy fiber (GO:0044300)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|synapse (GO:0045202)		p.A530V(1)		breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|liver(1)|lung(11)|prostate(4)|skin(1)|urinary_tract(1)	30		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.00284)|GBM - Glioblastoma multiforme(134;0.0188)		AGGGCCGGCCGCGTCCCCAGG	0.736																																						uc002pss.2																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)|skin(1)	2						c.(1588-1590)GCG>GTG		leucine rich repeat containing 4B precursor							7.0	9.0	9.0					19																	51021381		1867	4043	5910	SO:0001583	missense	94030					cell junction|integral to membrane|presynaptic membrane		g.chr19:51021381G>A	BC032460	CCDS42595.1	19q13.33	2014-01-30	2004-06-14	2004-06-16	ENSG00000131409	ENSG00000131409		"""Immunoglobulin superfamily / I-set domain containing"", ""Endogenous ligands"""	25042	protein-coding gene	gene with protein product	"""netrin-G3 ligand"""		"""leucine-rich repeats and immunoglobulin-like domains 4"""	LRIG4		11441184	Standard	NM_001080457		Approved	DKFZp761A179, HSM	uc002pss.3	Q9NT99		ENST00000599957.1:c.1589C>T	19.37:g.51021381G>A	ENSP00000471502:p.Ala530Val						p.A530V	NM_001080457	NP_001073926	Q9NT99	LRC4B_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00284)|GBM - Glioblastoma multiforme(134;0.0188)	3	1726	-		all_neural(266;0.131)	530			Gly-rich.|Extracellular (Potential).		Q3ZCQ4|Q58F20	Missense_Mutation	SNP	ENST00000599957.1	37	c.1589C>T	CCDS42595.1	.	.	.	.	.	.	.	.	.	.	G	0.108	-1.142547	0.01728	.	.	ENSG00000131409	ENST00000389201	T	0.59364	0.27	3.27	-3.28	0.05033	.	0.279029	0.21429	U	0.074681	T	0.25494	0.0620	N	0.08118	0	0.21782	N	0.999546	B	0.21225	0.053	B	0.08055	0.003	T	0.07616	-1.0763	10	0.27785	T	0.31	.	3.9796	0.09489	0.3481:0.3526:0.2994:0.0	.	530	Q9NT99	LRC4B_HUMAN	V	530	ENSP00000373853:A530V	ENSP00000373853:A530V	A	-	2	0	LRRC4B	55713193	0.588000	0.26799	0.016000	0.15963	0.018000	0.09664	2.262000	0.43285	-0.393000	0.07739	-1.474000	0.01003	GCG		PASS	0.736	LRRC4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464907.1	NM_001080457		5	5	5	5	---	---	---	---
CLEC11A	6320	broad.mit.edu	37	19	51226814	51226814	+	Missense_Mutation	SNP	T	T	A			TCGA-66-2756-01A-01D-1522-08	TCGA-66-2756-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	472c95e6-eccb-4988-be16-fdace73b2ed8	ff4f5936-f847-42ad-aedf-6a6a7fff6002	g.chr19:51226814T>A	ENST00000250340.4	+	1	229	c.32T>A	c.(31-33)gTg>gAg	p.V11E	CLEC11A_ENST00000599973.1_Missense_Mutation_p.V11E	NM_002975.2	NP_002966.1	Q9Y240	CLC11_HUMAN	C-type lectin domain family 11, member A	11					positive regulation of cell proliferation (GO:0008284)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	carbohydrate binding (GO:0030246)|growth factor activity (GO:0008083)	p.V11E(1)		kidney(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	7		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00641)|GBM - Glioblastoma multiforme(134;0.028)		GGGGCTTTGGTGGTCCCCCAG	0.652																																						uc002psy.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(31-33)GTG>GAG		stem cell growth factor precursor							68.0	69.0	69.0					19																	51226814		2203	4300	6503	SO:0001583	missense	6320				positive regulation of cell proliferation	cytoplasm|extracellular region	growth factor activity|sugar binding	g.chr19:51226814T>A	AF087658	CCDS12800.1	19q13.3	2010-04-27	2005-02-09	2005-02-11		ENSG00000105472		"""C-type lectin domain containing"""	10576	protein-coding gene	gene with protein product		604713	"""stem cell growth factor; lymphocyte secreted C-type lectin"""	SCGF		9207134, 9442024	Standard	NM_002975		Approved	P47, LSLCL, CLECSF3	uc002psy.3	Q9Y240		ENST00000250340.4:c.32T>A	19.37:g.51226814T>A	ENSP00000250340:p.Val11Glu						p.V11E	NM_002975	NP_002966	Q9Y240	CLC11_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00641)|GBM - Glioblastoma multiforme(134;0.028)	1	210	+		all_neural(266;0.057)	11					B2RAD4	Missense_Mutation	SNP	ENST00000250340.4	37	c.32T>A	CCDS12800.1	.	.	.	.	.	.	.	.	.	.	T	14.26	2.482228	0.44147	.	.	ENSG00000105472	ENST00000250340;ENST00000445858	T	0.51817	0.69	2.71	1.65	0.23941	.	0.297321	0.18315	N	0.144970	T	0.28699	0.0711	L	0.27053	0.805	0.29815	N	0.831329	P	0.35155	0.487	B	0.31869	0.137	T	0.23226	-1.0194	10	0.87932	D	0	-15.0829	4.9803	0.14162	0.2677:0.0:0.0:0.7323	.	11	Q9Y240	CLC11_HUMAN	E	11	ENSP00000250340:V11E	ENSP00000250340:V11E	V	+	2	0	CLEC11A	55918626	1.000000	0.71417	0.987000	0.45799	0.912000	0.54170	3.252000	0.51461	0.431000	0.26258	0.379000	0.24179	GTG		PASS	0.652	CLEC11A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464062.1	NM_002975		51	60	51	60	---	---	---	---
KLK13	26085	broad.mit.edu	37	19	51559890	51559890	+	Missense_Mutation	SNP	C	C	A	rs368127123		TCGA-66-2756-01A-01D-1522-08	TCGA-66-2756-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	472c95e6-eccb-4988-be16-fdace73b2ed8	ff4f5936-f847-42ad-aedf-6a6a7fff6002	g.chr19:51559890C>A	ENST00000595793.1	-	5	830	c.788G>T	c.(787-789)cGa>cTa	p.R263L	KLK13_ENST00000335422.3_Missense_Mutation_p.R111L|KLK13_ENST00000595547.1_Missense_Mutation_p.R190L	NM_015596.1	NP_056411.1	Q9UKR3	KLK13_HUMAN	kallikrein-related peptidase 13	263	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				protein processing (GO:0016485)|proteolysis (GO:0006508)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|secretory granule (GO:0030141)	hydrolase activity (GO:0016787)|serine-type endopeptidase activity (GO:0004252)	p.R263L(1)		central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(6)|prostate(1)|skin(1)	16		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00224)|GBM - Glioblastoma multiforme(134;0.00432)		TTCATATTTTCGGATTGTTTC	0.512																																						uc002pvn.2																			1	Substitution - Missense(1)		lung(1)		0						c.(787-789)CGA>CTA		kallikrein 13 precursor							251.0	236.0	241.0					19																	51559890		2203	4300	6503	SO:0001583	missense	26085				proteolysis		protein binding|serine-type endopeptidase activity	g.chr19:51559890C>A		CCDS12822.1	19q13.33	2008-02-05	2006-10-27			ENSG00000167759		"""Kallikreins"""	6361	protein-coding gene	gene with protein product		605505	"""kallikrein 13"""			16800724, 16800723	Standard	NM_015596		Approved	KLK-L4	uc002pvn.3	Q9UKR3		ENST00000595793.1:c.788G>T	19.37:g.51559890C>A	ENSP00000470555:p.Arg263Leu					KLK13_uc002pvl.2_RNA|KLK13_uc002pvm.2_RNA|KLK13_uc002pvo.2_RNA|KLK13_uc002pvp.2_RNA|KLK13_uc010eon.2_Missense_Mutation_p.R190L|KLK13_uc002pvq.2_RNA|KLK13_uc010eoo.2_Missense_Mutation_p.R111L	p.R263L	NM_015596	NP_056411	Q9UKR3	KLK13_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00224)|GBM - Glioblastoma multiforme(134;0.00432)	5	831	-		all_neural(266;0.026)	263			Peptidase S1.		A7UNK6|Q86VI8|Q9Y433	Missense_Mutation	SNP	ENST00000595793.1	37	c.788G>T	CCDS12822.1	.	.	.	.	.	.	.	.	.	.	C	13.02	2.111511	0.37242	.	.	ENSG00000167759	ENST00000156476;ENST00000335422	D	0.93366	-3.21	3.78	-3.39	0.04868	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (1);	1.340470	0.05170	N	0.499377	D	0.92061	0.7484	L	0.47016	1.485	0.09310	N	1	P;D;P	0.56287	0.678;0.975;0.671	B;P;B	0.50659	0.136;0.647;0.314	D	0.85149	0.0985	10	0.72032	D	0.01	.	8.6349	0.33941	0.0:0.3664:0.0:0.6336	.	111;190;263	Q86VI8;Q86VI7;Q9UKR3	.;.;KLK13_HUMAN	L	263;111	ENSP00000334079:R111L	ENSP00000156476:R263L	R	-	2	0	KLK13	56251702	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-0.309000	0.08145	-0.518000	0.06452	-0.781000	0.03364	CGA		PASS	0.512	KLK13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464298.2	NM_015596		148	228	148	228	---	---	---	---
SIGLEC9	27180	broad.mit.edu	37	19	51628465	51628465	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2756-01A-01D-1522-08	TCGA-66-2756-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	472c95e6-eccb-4988-be16-fdace73b2ed8	ff4f5936-f847-42ad-aedf-6a6a7fff6002	g.chr19:51628465C>G	ENST00000250360.3	+	1	301	c.234C>G	c.(232-234)aaC>aaG	p.N78K	SIGLEC9_ENST00000440804.3_Missense_Mutation_p.N78K	NM_014441.2	NP_055256.1	Q9Y336	SIGL9_HUMAN	sialic acid binding Ig-like lectin 9	78	Ig-like V-type.				cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)	integral component of plasma membrane (GO:0005887)	carbohydrate binding (GO:0030246)	p.N78K(1)		NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|liver(3)|lung(25)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	45		all_neural(266;0.0529)		GBM - Glioblastoma multiforme(134;0.000826)|OV - Ovarian serous cystadenocarcinoma(262;0.00295)		CCACAAACAACCCAGCTCGGG	0.577																																						uc002pvu.2																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(232-234)AAC>AAG		sialic acid binding Ig-like lectin 9 precursor							103.0	92.0	96.0					19																	51628465		2203	4300	6503	SO:0001583	missense	27180				cell adhesion|cell surface receptor linked signaling pathway	integral to plasma membrane	sugar binding	g.chr19:51628465C>G	AF135027	CCDS12825.1, CCDS56100.1	19q13.3-q13.4	2013-01-29			ENSG00000129450	ENSG00000129450		"""Sialic acid binding Ig-like lectins"", ""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	10878	protein-coding gene	gene with protein product		605640				10903842	Standard	NM_014441		Approved	CD329	uc002pvu.3	Q9Y336		ENST00000250360.3:c.234C>G	19.37:g.51628465C>G	ENSP00000250360:p.Asn78Lys					SIGLEC9_uc010yct.1_Missense_Mutation_p.N78K	p.N78K	NM_014441	NP_055256	Q9Y336	SIGL9_HUMAN		GBM - Glioblastoma multiforme(134;0.000826)|OV - Ovarian serous cystadenocarcinoma(262;0.00295)	1	301	+		all_neural(266;0.0529)	78			Extracellular (Potential).|Ig-like V-type.		Q6GTU4|Q9BYI9	Missense_Mutation	SNP	ENST00000250360.3	37	c.234C>G	CCDS12825.1	.	.	.	.	.	.	.	.	.	.	.	9.131	1.011390	0.19277	.	.	ENSG00000129450	ENST00000440804;ENST00000250360	T;T	0.42131	0.98;0.98	2.9	-5.53	0.02552	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	1.267760	0.05833	N	0.617909	T	0.34135	0.0887	L	0.53671	1.685	0.09310	N	1	P	0.35551	0.509	B	0.40534	0.332	T	0.42396	-0.9454	10	0.39692	T	0.17	.	1.8919	0.03249	0.1977:0.3786:0.2966:0.127	.	78	Q9Y336	SIGL9_HUMAN	K	78	ENSP00000413861:N78K;ENSP00000250360:N78K	ENSP00000250360:N78K	N	+	3	2	SIGLEC9	56320277	0.000000	0.05858	0.046000	0.18839	0.150000	0.21749	-0.821000	0.04452	-0.465000	0.06953	-0.474000	0.04947	AAC		PASS	0.577	SIGLEC9-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000464224.1	NM_014441		28	68	28	68	---	---	---	---
SIGLEC10	89790	broad.mit.edu	37	19	51918132	51918132	+	Missense_Mutation	SNP	A	A	T			TCGA-66-2756-01A-01D-1522-08	TCGA-66-2756-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	472c95e6-eccb-4988-be16-fdace73b2ed8	ff4f5936-f847-42ad-aedf-6a6a7fff6002	g.chr19:51918132A>T	ENST00000339313.5	-	8	1677	c.1561T>A	c.(1561-1563)Tgt>Agt	p.C521S	SIGLEC10_ENST00000442846.3_Intron|SIGLEC10_ENST00000525998.1_Intron|SIGLEC10_ENST00000432469.2_Intron|SIGLEC10_ENST00000439889.2_Missense_Mutation_p.C463S|SIGLEC10_ENST00000436984.2_Intron|SIGLEC10_ENST00000353836.5_Intron|CTD-2616J11.2_ENST00000526996.1_RNA|SIGLEC10_ENST00000356298.5_Missense_Mutation_p.C521S|CTD-2616J11.3_ENST00000532473.1_RNA|CTD-2616J11.2_ENST00000532688.1_RNA|SIGLEC10_ENST00000441969.3_Intron			Q96LC7	SIG10_HUMAN	sialic acid binding Ig-like lectin 10	521					cell adhesion (GO:0007155)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)	p.C463S(1)|p.C521S(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(27)|ovary(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000668)|OV - Ovarian serous cystadenocarcinoma(262;0.0101)		CAGGCCTCACAGCGGAGCCTG	0.667																																						uc002pwo.2																			2	Substitution - Missense(2)		lung(2)	skin(1)	1						c.(1561-1563)TGT>AGT		sialic acid binding Ig-like lectin 10 precursor							46.0	55.0	52.0					19																	51918132		2202	4299	6501	SO:0001583	missense	89790				cell adhesion	extracellular region|integral to membrane|plasma membrane	sugar binding	g.chr19:51918132A>T	AF310233	CCDS12832.1, CCDS54301.1, CCDS54302.1, CCDS54303.1, CCDS54304.1, CCDS54305.1	19q13.3	2013-01-29			ENSG00000142512	ENSG00000142512		"""Sialic acid binding Ig-like lectins"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	15620	protein-coding gene	gene with protein product	"""sialic acid binding Ig-like lectin 10 Ig-like lectin 7"", ""siglec-like gene 2"""	606091				11284738	Standard	NM_033130		Approved	SIGLEC-10, SLG2, PRO940, MGC126774	uc002pwo.3	Q96LC7	OTTHUMG00000165521	ENST00000339313.5:c.1561T>A	19.37:g.51918132A>T	ENSP00000345243:p.Cys521Ser					SIGLEC10_uc002pwp.2_Missense_Mutation_p.C463S|SIGLEC10_uc002pwq.2_Intron|SIGLEC10_uc002pwr.2_Intron|SIGLEC10_uc010ycy.1_Intron|SIGLEC10_uc010ycz.1_Intron|SIGLEC10_uc010eow.2_Intron|SIGLEC10_uc002pws.1_Intron	p.C521S	NM_033130	NP_149121	Q96LC7	SIG10_HUMAN		GBM - Glioblastoma multiforme(134;0.000668)|OV - Ovarian serous cystadenocarcinoma(262;0.0101)	8	2177	-		all_neural(266;0.0199)	521			Extracellular (Potential).		A8K1I5|A8K3C7|C9JJ33|C9JM10|F8W917|Q3MIR5|Q6UXI8|Q96G54|Q96LC8	Missense_Mutation	SNP	ENST00000339313.5	37	c.1561T>A	CCDS12832.1	.	.	.	.	.	.	.	.	.	.	.	14.61	2.585425	0.46110	.	.	ENSG00000142512	ENST00000356298;ENST00000439889;ENST00000339313	D;D;D	0.97378	-4.36;-4.36;-4.36	4.83	4.83	0.62350	.	0.000000	0.64402	D	0.000014	D	0.98520	0.9506	M	0.91872	3.25	0.34122	D	0.664269	D;D	0.89917	1.0;0.999	D;D	0.91635	0.999;0.99	D	0.99970	1.1982	10	0.87932	D	0	.	10.7877	0.46415	1.0:0.0:0.0:0.0	.	463;521	Q96LC7-3;Q96LC7	.;SIG10_HUMAN	S	521;463;521	ENSP00000348646:C521S;ENSP00000389132:C463S;ENSP00000345243:C521S	ENSP00000345243:C521S	C	-	1	0	SIGLEC10	56609944	1.000000	0.71417	0.917000	0.36280	0.002000	0.02628	4.225000	0.58600	1.813000	0.52934	0.459000	0.35465	TGT		PASS	0.667	SIGLEC10-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000384620.2	NM_033130		36	119	36	119	---	---	---	---
ZNF320	162967	broad.mit.edu	37	19	53385123	53385123	+	Missense_Mutation	SNP	A	A	T			TCGA-66-2756-01A-01D-1522-08	TCGA-66-2756-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	472c95e6-eccb-4988-be16-fdace73b2ed8	ff4f5936-f847-42ad-aedf-6a6a7fff6002	g.chr19:53385123A>T	ENST00000595635.1	-	8	757	c.256T>A	c.(256-258)Tgc>Agc	p.C86S	ZNF320_ENST00000391781.2_Missense_Mutation_p.C86S|ZNF320_ENST00000600930.1_Intron|ZNF320_ENST00000597909.1_Intron	NM_207333.2	NP_997216.2	A2RRD8	ZN320_HUMAN	zinc finger protein 320	86					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.C86S(1)		NS(1)|endometrium(2)|kidney(4)|large_intestine(5)|liver(1)|lung(10)|urinary_tract(1)	24				GBM - Glioblastoma multiforme(134;0.0534)		TCCTGGGAGCAAAATGCTCCA	0.398																																						uc002qag.2																			1	Substitution - Missense(1)		lung(1)		0						c.(256-258)TGC>AGC		zinc finger protein 320							146.0	145.0	145.0					19																	53385123		2203	4300	6503	SO:0001583	missense	162967				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53385123A>T	AF086262	CCDS33095.1	19q13.41	2014-09-04			ENSG00000182986	ENSG00000182986		"""Zinc fingers, C2H2-type"", ""-"""	13842	protein-coding gene	gene with protein product		606427				11536051	Standard	XM_006723059		Approved	ZFPL, DKFZp686G16228	uc002qag.3	A2RRD8	OTTHUMG00000182797	ENST00000595635.1:c.256T>A	19.37:g.53385123A>T	ENSP00000473091:p.Cys86Ser					ZNF320_uc010eqh.1_5'Flank|ZNF320_uc010eqi.1_Intron|ZNF320_uc002qah.2_Missense_Mutation_p.C32S|ZNF320_uc002qai.2_Missense_Mutation_p.C86S	p.C86S	NM_207333	NP_997216	A2RRD8	ZN320_HUMAN		GBM - Glioblastoma multiforme(134;0.0534)	4	447	-			86					Q8NDR6	Missense_Mutation	SNP	ENST00000595635.1	37	c.256T>A	CCDS33095.1	.	.	.	.	.	.	.	.	.	.	-	1.770	-0.484570	0.04352	.	.	ENSG00000182986	ENST00000391781	T	0.06528	3.29	1.41	-2.82	0.05787	.	.	.	.	.	T	0.06005	0.0156	M	0.65975	2.015	0.09310	N	1	B	0.10296	0.003	B	0.01281	0.0	T	0.46803	-0.9165	9	0.15952	T	0.53	.	3.0718	0.06233	0.3705:0.4096:0.0:0.2199	.	86	A2RRD8	ZN320_HUMAN	S	86	ENSP00000375660:C86S	ENSP00000375660:C86S	C	-	1	0	ZNF320	58076935	0.000000	0.05858	0.000000	0.03702	0.091000	0.18340	-0.302000	0.08221	-1.455000	0.01923	0.155000	0.16302	TGC		PASS	0.398	ZNF320-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463771.1	NM_207333		128	200	128	200	---	---	---	---
ZNF331	55422	broad.mit.edu	37	19	54080616	54080616	+	Nonsense_Mutation	SNP	G	G	T			TCGA-66-2756-01A-01D-1522-08	TCGA-66-2756-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	472c95e6-eccb-4988-be16-fdace73b2ed8	ff4f5936-f847-42ad-aedf-6a6a7fff6002	g.chr19:54080616G>T	ENST00000253144.9	+	7	2135	c.802G>T	c.(802-804)Gag>Tag	p.E268*	ZNF331_ENST00000449416.1_Nonsense_Mutation_p.E268*|ZNF331_ENST00000513265.1_Intron|ZNF331_ENST00000511593.2_Nonsense_Mutation_p.E268*|ZNF331_ENST00000511154.1_Nonsense_Mutation_p.E268*|ZNF331_ENST00000512387.1_Nonsense_Mutation_p.E268*|ZNF331_ENST00000411977.2_Nonsense_Mutation_p.E268*|ZNF331_ENST00000513999.1_Nonsense_Mutation_p.E268*	NM_001253801.1|NM_018555.5	NP_001240730.1|NP_061025.5	Q9NQX6	ZN331_HUMAN	zinc finger protein 331	268					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.E268*(1)|p.E268K(1)		NS(1)|large_intestine(1)|lung(1)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	10				GBM - Glioblastoma multiforme(134;0.00555)		TCATAGTGGGGAGAAGCCTTA	0.428			T	?	follicular thyroid adenoma																																	uc002qbx.1				Dom	yes		19	19q13.3-q13.4	55422	T	zinc finger protein 331			E	?		follicular thyroid adenoma		2	Substitution - Missense(1)|Substitution - Nonsense(1)		lung(1)|breast(1)	skin(3)|upper_aerodigestive_tract(1)|ovary(1)|lung(1)	6						c.(802-804)GAG>TAG		zinc finger protein 331							58.0	64.0	62.0					19																	54080616		2203	4300	6503	SO:0001587	stop_gained	55422				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:54080616G>T	AF251515	CCDS33102.1	19q13	2013-12-10				ENSG00000130844		"""Zinc fingers, C2H2-type"", ""-"""	15489	protein-coding gene	gene with protein product	"""rearranged in thyroid adenomas"""	606043					Standard	NM_001079906		Approved	RITA, ZNF463, ZNF361	uc021uzh.1	Q9NQX6		ENST00000253144.9:c.802G>T	19.37:g.54080616G>T	ENSP00000253144:p.Glu268*					ZNF331_uc002qby.1_Nonsense_Mutation_p.E268*|ZNF331_uc002qbz.1_Nonsense_Mutation_p.E268*|ZNF331_uc002qca.1_Nonsense_Mutation_p.E268*|ZNF331_uc010eqr.1_Nonsense_Mutation_p.E268*|ZNF331_uc002qcb.1_Nonsense_Mutation_p.E268*|ZNF331_uc002qcc.1_Nonsense_Mutation_p.E268*|ZNF331_uc002qcd.1_Nonsense_Mutation_p.E268*	p.E268*	NM_018555	NP_061025	Q9NQX6	ZN331_HUMAN		GBM - Glioblastoma multiforme(134;0.00555)	7	2236	+			268					Q96GJ4	Nonsense_Mutation	SNP	ENST00000253144.9	37	c.802G>T	CCDS33102.1	.	.	.	.	.	.	.	.	.	.	G	38	6.754544	0.97813	.	.	ENSG00000130844	ENST00000253144;ENST00000511593;ENST00000449416;ENST00000411977;ENST00000511154;ENST00000513999;ENST00000512387	.	.	.	3.68	3.68	0.42216	.	0.454073	0.16313	N	0.219916	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.54805	T	0.06	.	13.245	0.60018	0.0:0.0:1.0:0.0	.	.	.	.	X	268	.	ENSP00000253144:E268X	E	+	1	0	ZNF331	58772428	1.000000	0.71417	0.975000	0.42487	0.974000	0.67602	5.191000	0.65110	2.049000	0.60858	0.563000	0.77884	GAG		PASS	0.428	ZNF331-008	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371366.1	NM_018555		50	93	50	93	---	---	---	---
LILRB2	10288	broad.mit.edu	37	19	54780770	54780770	+	Silent	SNP	G	G	A			TCGA-66-2756-01A-01D-1522-08	TCGA-66-2756-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	472c95e6-eccb-4988-be16-fdace73b2ed8	ff4f5936-f847-42ad-aedf-6a6a7fff6002	g.chr19:54780770G>A	ENST00000391749.4	-	10	1645	c.1374C>T	c.(1372-1374)caC>caT	p.H458H	LILRB2_ENST00000391746.1_Silent_p.H458H|LILRB2_ENST00000391748.1_Silent_p.H457H|LILRB2_ENST00000471216.1_5'Flank|LILRB2_ENST00000434421.1_Silent_p.H342H|LILRB2_ENST00000314446.5_Silent_p.H457H	NM_001278406.1	NP_001265335.1	Q8N423	LIRB2_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 2	458					cell surface receptor signaling pathway (GO:0007166)|cell-cell signaling (GO:0007267)|cellular defense response (GO:0006968)|cellular response to lipopolysaccharide (GO:0071222)|Fc receptor mediated inhibitory signaling pathway (GO:0002774)|heterotypic cell-cell adhesion (GO:0034113)|immune response (GO:0006955)|immune response-inhibiting cell surface receptor signaling pathway (GO:0002767)|negative regulation of antigen processing and presentation (GO:0002578)|negative regulation of calcium ion transport (GO:0051926)|negative regulation of T cell proliferation (GO:0042130)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of regulatory T cell differentiation (GO:0045591)|positive regulation of T cell proliferation (GO:0042102)|positive regulation of T cell tolerance induction (GO:0002666)|regulation of dendritic cell differentiation (GO:2001198)|regulation of immune response (GO:0050776)|signal transduction (GO:0007165)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	cell adhesion molecule binding (GO:0050839)|inhibitory MHC class I receptor activity (GO:0032396)|MHC class I protein binding (GO:0042288)|MHC class Ib protein binding (GO:0023029)|protein phosphatase 1 binding (GO:0008157)|receptor activity (GO:0004872)	p.H458H(1)		breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(30)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	44	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		CAACCCCCAGGTGCCTTCCCA	0.572																																						uc002qfb.2																			1	Substitution - coding silent(1)		lung(1)	skin(1)	1						c.(1372-1374)CAC>CAT		leukocyte immunoglobulin-like receptor,							158.0	107.0	124.0					19																	54780770		2203	4300	6503	SO:0001819	synonymous_variant	10288				cell surface receptor linked signaling pathway|cell-cell signaling|cellular defense response|immune response|regulation of immune response	integral to plasma membrane|membrane fraction	receptor activity	g.chr19:54780770G>A	AF000574	CCDS12886.1, CCDS42612.1, CCDS62791.1, CCDS62792.1	19q13.4	2013-01-11			ENSG00000131042	ENSG00000131042		"""Leukocyte immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6606	protein-coding gene	gene with protein product		604815				9151699, 9079806	Standard	XM_006722966		Approved	LIR-2, ILT4, MIR-10, LIR2, CD85d, MIR10	uc002qfb.3	Q8N423	OTTHUMG00000064896	ENST00000391749.4:c.1374C>T	19.37:g.54780770G>A						LILRA6_uc002qew.1_Intron|LILRB2_uc010eri.2_Silent_p.H458H|LILRB2_uc010erj.2_RNA|LILRB2_uc002qfc.2_Silent_p.H457H|LILRB2_uc010yet.1_Silent_p.H342H	p.H458H	NM_005874	NP_005865	Q8N423	LIRB2_HUMAN		GBM - Glioblastoma multiforme(193;0.105)	10	1640	-	Ovarian(34;0.19)		458			Extracellular (Potential).		A8MU67|C9JF29|O75017|Q8NHJ7|Q8NHJ8	Silent	SNP	ENST00000391749.4	37	c.1374C>T	CCDS12886.1																																																																																				PASS	0.572	LILRB2-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000139510.1			23	34	23	34	---	---	---	---
LILRA5	353514	broad.mit.edu	37	19	54823222	54823222	+	Silent	SNP	T	T	C			TCGA-66-2756-01A-01D-1522-08	TCGA-66-2756-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	472c95e6-eccb-4988-be16-fdace73b2ed8	ff4f5936-f847-42ad-aedf-6a6a7fff6002	g.chr19:54823222T>C	ENST00000301219.3	-	4	440	c.321A>G	c.(319-321)acA>acG	p.T107T	LILRA5_ENST00000346508.3_Silent_p.T95T|LILRA5_ENST00000432233.3_Silent_p.T107T|AC008984.2_ENST00000507363.1_RNA|LILRA5_ENST00000446712.3_Silent_p.T95T	NM_021250.2	NP_067073.1	A6NI73	LIRA5_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 5	107	Ig-like C2-type 1.				innate immune response (GO:0045087)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)		p.T107T(1)		breast(1)|endometrium(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	20	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		CATGGTGCTCTGTCATGGATG	0.577																																						uc002qfe.2																			1	Substitution - coding silent(1)		lung(1)	upper_aerodigestive_tract(1)	1						c.(319-321)ACA>ACG		leukocyte immunoglobulin-like receptor subfamily							334.0	290.0	305.0					19																	54823222		2203	4300	6503	SO:0001819	synonymous_variant	353514				innate immune response	extracellular region|integral to membrane	receptor activity	g.chr19:54823222T>C	AF212842	CCDS12888.1, CCDS12889.1	19q13.4	2013-01-11	2005-05-13	2005-05-13	ENSG00000187116	ENSG00000187116		"""Leukocyte immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	16309	protein-coding gene	gene with protein product		606047		LILRB7		10941842	Standard	NM_181986		Approved	ILT11, LIR9, CD85, CD85f	uc002qfe.3	A6NI73	OTTHUMG00000065357	ENST00000301219.3:c.321A>G	19.37:g.54823222T>C						LILRA5_uc002qff.2_Silent_p.T95T|LILRA5_uc010yev.1_Silent_p.T107T|LILRA5_uc010yew.1_Silent_p.T95T|LILRA5_uc002qfh.1_Silent_p.T95T|LILRA5_uc002qfg.1_Silent_p.T107T	p.T107T	NM_021250	NP_067073	A6NI73	LIRA5_HUMAN		GBM - Glioblastoma multiforme(193;0.105)	4	441	-	Ovarian(34;0.19)		107			Extracellular (Potential).|Ig-like C2-type 1.		A6NHI3	Silent	SNP	ENST00000301219.3	37	c.321A>G	CCDS12888.1																																																																																				PASS	0.577	LILRA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000140231.1	NM_181985		134	220	134	220	---	---	---	---
KIR3DL1	3811	broad.mit.edu	37	19	55341617	55341617	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2756-01A-01D-1522-08	TCGA-66-2756-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	472c95e6-eccb-4988-be16-fdace73b2ed8	ff4f5936-f847-42ad-aedf-6a6a7fff6002	g.chr19:55341617C>A	ENST00000391728.4	+	9	1255	c.1222C>A	c.(1222-1224)Cag>Aag	p.Q408K	KIR3DL1_ENST00000358178.4_Missense_Mutation_p.Q313K|KIR2DS4_ENST00000339924.8_RNA|KIR3DL1_ENST00000326542.7_Missense_Mutation_p.Q391K|KIR3DL1_ENST00000541392.1_Missense_Mutation_p.Q391K|KIR3DL1_ENST00000402254.2_Intron|KIR3DL1_ENST00000538269.1_Missense_Mutation_p.Q408K	NM_013289.2	NP_037421.2	P43629	KI3L1_HUMAN	killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 1	408					immune response (GO:0006955)|regulation of immune response (GO:0050776)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	HLA-B specific inhibitory MHC class I receptor activity (GO:0030109)	p.Q408K(1)		breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	11				GBM - Glioblastoma multiforme(193;0.0192)		CGTTTTCACACAGAGAAAAAT	0.498																																						uc002qhk.3																			1	Substitution - Missense(1)		lung(1)	ovary(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|skin(1)	5						c.(1222-1224)CAG>AAG		killer cell immunoglobulin-like receptor, three							257.0	239.0	245.0					19																	55341617		2171	4165	6336	SO:0001583	missense	3811				immune response|regulation of immune response	integral to plasma membrane	HLA-B specific inhibitory MHC class I receptor activity	g.chr19:55341617C>A	L41269	CCDS42621.1	19q13.4	2014-05-22			ENSG00000167633	ENSG00000167633		"""Killer cell immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6338	protein-coding gene	gene with protein product		604946		KIR		7716543, 7749980	Standard	NM_013289		Approved	cl-2, NKB1, cl-11, nkat3, NKB1B, AMB11, CD158e1/2, CD158E1, CD158e2		P43629	OTTHUMG00000065933	ENST00000391728.4:c.1222C>A	19.37:g.55341617C>A	ENSP00000375608:p.Gln408Lys					KIR2DS4_uc010yfj.1_Intron|KIR2DS4_uc010yfk.1_Intron|KIR3DL1_uc010yfn.1_Missense_Mutation_p.Q333K|KIR3DL1_uc010esf.2_Missense_Mutation_p.Q313K|KIR3DL1_uc010yfo.1_Missense_Mutation_p.Q350K|KIR3DL1_uc002qhl.3_Intron|KIR2DS4_uc010esg.1_5'Flank|KIR2DS4_uc002qhm.1_5'Flank	p.Q408K	NM_013289	NP_037421	P43629	KI3L1_HUMAN		GBM - Glioblastoma multiforme(193;0.0192)	9	1285	+			408			Cytoplasmic (Potential).		O43473|Q14946|Q16541	Missense_Mutation	SNP	ENST00000391728.4	37	c.1222C>A	CCDS42621.1	.	.	.	.	.	.	.	.	.	.	-	10.82	1.457761	0.26161	.	.	ENSG00000167633	ENST00000538269;ENST00000541392;ENST00000355608;ENST00000391728;ENST00000326542;ENST00000358178	T;T;T;T;T	0.00486	7.21;7.06;7.21;7.06;7.21	0.719	0.719	0.18208	.	.	.	.	.	T	0.00724	0.0024	M	0.85099	2.735	0.09310	N	1	P;P;B	0.45283	0.614;0.855;0.427	B;P;B	0.45232	0.347;0.474;0.17	T	0.42050	-0.9474	8	0.72032	D	0.01	.	.	.	.	.	391;313;408	Q15702;Q14946;P43629	.;.;KI3L1_HUMAN	K	408;391;386;408;391;313	ENSP00000443350:Q408K;ENSP00000442355:Q391K;ENSP00000375608:Q408K;ENSP00000326868:Q391K;ENSP00000350901:Q313K	ENSP00000326868:Q391K	Q	+	1	0	KIR3DL1	60033429	0.000000	0.05858	0.045000	0.18777	0.083000	0.17756	-0.842000	0.04354	0.680000	0.31366	0.184000	0.17185	CAG		PASS	0.498	KIR3DL1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000141238.1	NM_013289		193	327	193	327	---	---	---	---
NCR1	9437	broad.mit.edu	37	19	55418142	55418142	+	Missense_Mutation	SNP	A	A	G			TCGA-66-2756-01A-01D-1522-08	TCGA-66-2756-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	472c95e6-eccb-4988-be16-fdace73b2ed8	ff4f5936-f847-42ad-aedf-6a6a7fff6002	g.chr19:55418142A>G	ENST00000291890.4	+	3	370	c.332A>G	c.(331-333)aAc>aGc	p.N111S	NCR1_ENST00000357397.5_Intron|NCR1_ENST00000594765.1_Missense_Mutation_p.N111S|NCR1_ENST00000350790.5_Intron|NCR1_ENST00000447255.1_Missense_Mutation_p.N111S|NCR1_ENST00000338835.5_Missense_Mutation_p.N111S|NCR1_ENST00000598576.1_Missense_Mutation_p.N99S	NM_004829.5	NP_004820.2	O76036	NCTR1_HUMAN	natural cytotoxicity triggering receptor 1	111	Ig-like 1.				cellular defense response (GO:0006968)|intracellular signal transduction (GO:0035556)|natural killer cell activation (GO:0030101)|regulation of natural killer cell mediated cytotoxicity (GO:0042269)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)|SWI/SNF complex (GO:0016514)	receptor signaling protein activity (GO:0005057)	p.N111S(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1)	18				GBM - Glioblastoma multiforme(193;0.0449)		GAGCCCAGCAACTTGCTGGAT	0.502																																						uc002qib.2																			1	Substitution - Missense(1)		lung(1)	large_intestine(1)|ovary(1)	2						c.(331-333)AAC>AGC		natural cytotoxicity triggering receptor 1							77.0	84.0	81.0					19																	55418142		2203	4300	6503	SO:0001583	missense	9437				cellular defense response|natural killer cell activation|regulation of natural killer cell mediated cytotoxicity	integral to plasma membrane|SWI/SNF complex	receptor activity|receptor signaling protein activity	g.chr19:55418142A>G	AJ001383	CCDS12911.1, CCDS46181.1, CCDS46182.1, CCDS56103.1	19q13.42	2013-09-20	2002-11-13	2002-11-15	ENSG00000189430	ENSG00000189430		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6731	protein-coding gene	gene with protein product		604530	"""lymphocyte antigen 94 (mouse) homolog (activating NK-receptor; NK-p46)"""	LY94		9730896	Standard	NM_001145457		Approved	NK-p46, NKP46, CD335	uc002qib.2	O76036	OTTHUMG00000183212	ENST00000291890.4:c.332A>G	19.37:g.55418142A>G	ENSP00000291890:p.Asn111Ser					NCR1_uc002qic.2_Missense_Mutation_p.N111S|NCR1_uc002qie.2_Missense_Mutation_p.N111S|NCR1_uc002qid.2_Intron|NCR1_uc002qif.2_Intron|NCR1_uc010esj.2_Intron	p.N111S	NM_004829	NP_004820	O76036	NCTR1_HUMAN		GBM - Glioblastoma multiforme(193;0.0449)	3	370	+			111			Ig-like 1.|Extracellular (Potential).		B0V3L2|B0V3L3|B0V3L4|B0V3L5|B8JL03|O76016|O76017|O76018	Missense_Mutation	SNP	ENST00000291890.4	37	c.332A>G	CCDS12911.1	.	.	.	.	.	.	.	.	.	.	A	10.62	1.401966	0.25291	.	.	ENSG00000189430	ENST00000291890;ENST00000447255;ENST00000338835	T;T;T	0.13196	2.61;2.61;2.61	3.74	2.71	0.32032	Immunoglobulin-like fold (1);	0.836899	0.10618	N	0.653654	T	0.13798	0.0334	L	0.52011	1.625	0.09310	N	0.999999	B;B;B	0.15719	0.014;0.003;0.008	B;B;B	0.09377	0.004;0.003;0.004	T	0.22347	-1.0219	10	0.87932	D	0	.	7.2928	0.26376	0.775:0.225:0.0:0.0	.	111;111;111	B0V3L5;O76036-6;O76036	.;.;NCTR1_HUMAN	S	111	ENSP00000291890:N111S;ENSP00000404434:N111S;ENSP00000339515:N111S	ENSP00000291890:N111S	N	+	2	0	NCR1	60109954	0.006000	0.16342	0.002000	0.10522	0.004000	0.04260	1.668000	0.37481	0.782000	0.33613	0.454000	0.30748	AAC		PASS	0.502	NCR1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000465680.1			50	79	50	79	---	---	---	---
PTPRH	5794	broad.mit.edu	37	19	55715298	55715298	+	Silent	SNP	A	A	T			TCGA-66-2756-01A-01D-1522-08	TCGA-66-2756-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	472c95e6-eccb-4988-be16-fdace73b2ed8	ff4f5936-f847-42ad-aedf-6a6a7fff6002	g.chr19:55715298A>T	ENST00000376350.3	-	5	760	c.738T>A	c.(736-738)acT>acA	p.T246T	PTPRH_ENST00000263434.5_Intron|PTPRH_ENST00000588559.1_5'UTR	NM_002842.3	NP_002833.3	Q9HD43	PTPRH_HUMAN	protein tyrosine phosphatase, receptor type, H	246	Fibronectin type-III 3. {ECO:0000255|PROSITE-ProRule:PRU00316}.				apoptotic process (GO:0006915)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)	transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)	p.T246T(1)		breast(2)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(8)|lung(27)|ovary(2)|prostate(5)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	67		Renal(1328;0.245)	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0479)		CACCATCTCCAGTGCACTGAA	0.577																																						uc002qjq.2																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|large_intestine(1)|skin(1)	4						c.(736-738)ACT>ACA		protein tyrosine phosphatase, receptor type, H							192.0	159.0	170.0					19																	55715298		2203	4300	6503	SO:0001819	synonymous_variant	5794				apoptosis	cytoplasm|integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr19:55715298A>T		CCDS33110.1, CCDS54321.1	19q13.4	2013-02-11				ENSG00000080031		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9672	protein-coding gene	gene with protein product		602510				8294459	Standard	XM_006723312		Approved	SAP-1	uc002qjq.3	Q9HD43		ENST00000376350.3:c.738T>A	19.37:g.55715298A>T						PTPRH_uc010esv.2_Intron|PTPRH_uc002qjs.2_Silent_p.T253T	p.T246T	NM_002842	NP_002833	Q9HD43	PTPRH_HUMAN	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0479)	5	811	-		Renal(1328;0.245)	246			Extracellular (Potential).|Fibronectin type-III 3.		C9JCH2|Q15426|Q2NKN9|Q2NKP0	Silent	SNP	ENST00000376350.3	37	c.738T>A	CCDS33110.1																																																																																				PASS	0.577	PTPRH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452649.1			65	92	65	92	---	---	---	---
BRSK1	84446	broad.mit.edu	37	19	55815127	55815127	+	Missense_Mutation	SNP	G	G	A			TCGA-66-2756-01A-01D-1522-08	TCGA-66-2756-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	472c95e6-eccb-4988-be16-fdace73b2ed8	ff4f5936-f847-42ad-aedf-6a6a7fff6002	g.chr19:55815127G>A	ENST00000309383.1	+	12	1496	c.1219G>A	c.(1219-1221)Gat>Aat	p.D407N	BRSK1_ENST00000590333.1_Missense_Mutation_p.D423N|BRSK1_ENST00000326848.7_Missense_Mutation_p.D102N	NM_032430.1	NP_115806.1	Q8TDC3	BRSK1_HUMAN	BR serine/threonine kinase 1	407					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.D407N(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)		GAGCATCACCGATGCCGGGGG	0.667																																						uc002qkg.2																			2	Substitution - Missense(2)		lung(2)	ovary(2)|stomach(1)|lung(1)|breast(1)|skin(1)	6						c.(1219-1221)GAT>AAT		BR serine/threonine kinase 1							53.0	60.0	58.0					19																	55815127		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.chr19:55815127G>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.1219G>A	19.37:g.55815127G>A	ENSP00000310649:p.Asp407Asn					BRSK1_uc002qkf.2_Missense_Mutation_p.D423N|BRSK1_uc002qkh.2_Missense_Mutation_p.D102N	p.D407N	NM_032430	NP_115806	Q8TDC3	BRSK1_HUMAN	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0474)	12	1496	+		Renal(1328;0.245)	407					F1DG44|Q5J5B5|Q8NDD0|Q8NDR4|Q8TDC2|Q96AV4|Q96JL4	Missense_Mutation	SNP	ENST00000309383.1	37	c.1219G>A	CCDS12921.1	.	.	.	.	.	.	.	.	.	.	.	29.2	4.985554	0.93044	.	.	ENSG00000160469	ENST00000309383;ENST00000543410;ENST00000326848	T;T	0.71698	-0.59;1.86	3.86	3.86	0.44501	.	0.146689	0.43260	D	0.000589	T	0.78679	0.4321	L	0.56769	1.78	0.48762	D	0.9997	D;D	0.76494	0.999;0.999	D;D	0.66196	0.93;0.942	T	0.75955	-0.3135	10	0.25106	T	0.35	.	15.1104	0.72351	0.0:0.0:1.0:0.0	.	407;423	Q8TDC3;Q8TDC3-2	BRSK1_HUMAN;.	N	407;102;102	ENSP00000310649:D407N;ENSP00000320853:D102N	ENSP00000310649:D407N	D	+	1	0	BRSK1	60506939	1.000000	0.71417	0.793000	0.32043	0.921000	0.55340	9.157000	0.94714	2.175000	0.68902	0.561000	0.74099	GAT		PASS	0.667	BRSK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452787.1	NM_032430		29	116	29	116	---	---	---	---
ZNF579	163033	broad.mit.edu	37	19	56089943	56089943	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2756-01A-01D-1522-08	TCGA-66-2756-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	472c95e6-eccb-4988-be16-fdace73b2ed8	ff4f5936-f847-42ad-aedf-6a6a7fff6002	g.chr19:56089943C>A	ENST00000325421.4	-	2	1091	c.1063G>T	c.(1063-1065)Gcg>Tcg	p.A355S	CTD-2537I9.5_ENST00000589396.1_lincRNA	NM_152600.2	NP_689813.2	Q8NAF0	ZN579_HUMAN	zinc finger protein 579	355	Gly-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)|poly(A) RNA binding (GO:0044822)	p.A355S(1)		endometrium(1)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	9			BRCA - Breast invasive adenocarcinoma(297;0.18)	GBM - Glioblastoma multiforme(193;0.106)		CCGCACTCCGCCCCCTCGCCC	0.771																																						uc002qlh.2																			1	Substitution - Missense(1)		lung(1)		0						c.(1063-1065)GCG>TCG		zinc finger protein 579							3.0	4.0	3.0					19																	56089943		1479	3173	4652	SO:0001583	missense	163033				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:56089943C>A	AK092772	CCDS12927.1	19q13.42	2013-09-20			ENSG00000218891	ENSG00000218891		"""Zinc fingers, C2H2-type"""	26646	protein-coding gene	gene with protein product							Standard	NM_152600		Approved	FLJ35453	uc002qlh.3	Q8NAF0	OTTHUMG00000180857	ENST00000325421.4:c.1063G>T	19.37:g.56089943C>A	ENSP00000320188:p.Ala355Ser						p.A355S	NM_152600	NP_689813	Q8NAF0	ZN579_HUMAN	BRCA - Breast invasive adenocarcinoma(297;0.18)	GBM - Glioblastoma multiforme(193;0.106)	2	1116	-			355			Gly-rich.			Missense_Mutation	SNP	ENST00000325421.4	37	c.1063G>T	CCDS12927.1	.	.	.	.	.	.	.	.	.	.	C	4.649	0.120743	0.08881	.	.	ENSG00000218891	ENST00000325421	T	0.06142	3.34	3.25	-0.1	0.13621	.	.	.	.	.	T	0.02727	0.0082	N	0.08118	0	0.09310	N	1	P	0.39424	0.673	B	0.35073	0.195	T	0.44436	-0.9328	9	0.33141	T	0.24	.	4.9192	0.13862	0.0:0.5502:0.0:0.4498	.	355	Q8NAF0	ZN579_HUMAN	S	355	ENSP00000320188:A355S	ENSP00000320188:A355S	A	-	1	0	ZNF579	60781755	0.181000	0.23161	0.007000	0.13788	0.042000	0.13812	2.471000	0.45127	0.210000	0.20664	0.561000	0.74099	GCG		PASS	0.771	ZNF579-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453348.1	NM_152600		2	1	2	1	---	---	---	---
PEG3	5178	broad.mit.edu	37	19	57325172	57325172	+	Missense_Mutation	SNP	G	G	C	rs189053356		TCGA-66-2756-01A-01D-1522-08	TCGA-66-2756-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	472c95e6-eccb-4988-be16-fdace73b2ed8	ff4f5936-f847-42ad-aedf-6a6a7fff6002	g.chr19:57325172G>C	ENST00000326441.9	-	10	5001	c.4638C>G	c.(4636-4638)atC>atG	p.I1546M	ZIM2_ENST00000593711.1_Intron|ZIM2_ENST00000391708.3_Intron|PEG3_ENST00000598410.1_Missense_Mutation_p.I1422M|ZIM2_ENST00000601070.1_Intron|ZIM2_ENST00000599935.1_Intron|ZIM2_ENST00000221722.5_Intron|PEG3_ENST00000593695.1_Missense_Mutation_p.I1420M|PEG3_ENST00000423103.2_Missense_Mutation_p.I1546M	NM_006210.2	NP_006201.1	Q9GZU2	PEG3_HUMAN	paternally expressed 3	1546					apoptotic process (GO:0006915)|genetic imprinting (GO:0071514)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)	p.I1546M(2)		NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		TGGCACGTTCGATGTAGCCTG	0.517																																						uc002qnu.2																			2	Substitution - Missense(2)		lung(2)	ovary(7)|skin(2)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1)	12						c.(4636-4638)ATC>ATG		paternally expressed 3 isoform 1							151.0	129.0	137.0					19																	57325172		2203	4300	6503	SO:0001583	missense	5178				apoptosis|viral reproduction	cytoplasm|nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:57325172G>C	AB006625	CCDS12948.1, CCDS58684.1, CCDS58685.1	19q13.4	2013-01-09				ENSG00000198300		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	8826	protein-coding gene	gene with protein product		601483				9149948	Standard	NM_006210		Approved	ZKSCAN22, KIAA0287, ZNF904, ZSCAN24	uc010etr.2	Q9GZU2		ENST00000326441.9:c.4638C>G	19.37:g.57325172G>C	ENSP00000326581:p.Ile1546Met					ZIM2_uc010ygq.1_Intron|ZIM2_uc010ygr.1_Intron|ZIM2_uc002qnr.2_Intron|ZIM2_uc002qnq.2_Intron|ZIM2_uc010etp.2_Intron|ZIM2_uc010ygs.1_Intron|PEG3_uc002qnt.2_Missense_Mutation_p.I1517M|PEG3_uc002qnv.2_Missense_Mutation_p.I1546M|PEG3_uc002qnw.2_Missense_Mutation_p.I1422M|PEG3_uc002qnx.2_Missense_Mutation_p.I1420M|PEG3_uc010etr.2_Missense_Mutation_p.I1546M	p.I1546M	NM_001146186	NP_001139658	Q9GZU2	PEG3_HUMAN		GBM - Glioblastoma multiforme(193;0.0269)	7	4989	-		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)	1546					A7E2B8|B4DIM4|C9JP50|P78418|Q5H9P9|Q7Z7H7|Q8TF75|Q9GZY2	Missense_Mutation	SNP	ENST00000326441.9	37	c.4638C>G	CCDS12948.1	.	.	.	.	.	.	.	.	.	.	G	6.046	0.376783	0.11466	.	.	ENSG00000198300	ENST00000326441;ENST00000423103	T;T	0.02552	4.25;4.25	3.76	-7.52	0.01341	.	0.312978	0.23275	N	0.049962	T	0.01661	0.0053	N	0.19112	0.55	.	.	.	P;B;B	0.51653	0.947;0.031;0.031	B;B;B	0.43123	0.409;0.012;0.012	T	0.26360	-1.0105	9	0.39692	T	0.17	-7.2536	8.0684	0.30674	0.3006:0.1377:0.5617:0.0	.	1422;1546;1481	A7E2B8;Q9GZU2;Q96Q96	.;PEG3_HUMAN;.	M	1546	ENSP00000326581:I1546M;ENSP00000403051:I1546M	ENSP00000326581:I1546M	I	-	3	3	ZIM2	62016984	0.000000	0.05858	0.000000	0.03702	0.777000	0.43975	-3.282000	0.00528	-1.420000	0.02009	-1.500000	0.00958	ATC		PASS	0.517	PEG3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416099.2			70	104	70	104	---	---	---	---
USP29	57663	broad.mit.edu	37	19	57641313	57641313	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2756-01A-01D-1522-08	TCGA-66-2756-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	472c95e6-eccb-4988-be16-fdace73b2ed8	ff4f5936-f847-42ad-aedf-6a6a7fff6002	g.chr19:57641313G>T	ENST00000254181.4	+	4	1724	c.1270G>T	c.(1270-1272)Gtt>Ttt	p.V424F	USP29_ENST00000598197.1_Missense_Mutation_p.V424F	NM_020903.2	NP_065954.1	Q9HBJ7	UBP29_HUMAN	ubiquitin specific peptidase 29	424	USP.				ubiquitin-dependent protein catabolic process (GO:0006511)		cysteine-type peptidase activity (GO:0008234)|ubiquitin thiolesterase activity (GO:0004221)	p.V424F(1)		breast(3)|endometrium(4)|kidney(3)|large_intestine(15)|lung(47)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	85		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		TGTTTGCCCTGTTGTTGCTAA	0.388																																						uc002qny.2																			1	Substitution - Missense(1)		lung(1)	lung(6)|ovary(2)|breast(2)|pancreas(1)	11						c.(1270-1272)GTT>TTT		ubiquitin specific peptidase 29							147.0	133.0	138.0					19																	57641313		2203	4300	6503	SO:0001583	missense	57663				protein modification process|ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity	g.chr19:57641313G>T		CCDS33124.1	19q13.4	2008-06-23	2005-08-08			ENSG00000131864		"""Ubiquitin-specific peptidases"""	18563	protein-coding gene	gene with protein product		609546	"""ubiquitin specific protease 29"""			12838346	Standard	NM_020903		Approved		uc002qny.3	Q9HBJ7		ENST00000254181.4:c.1270G>T	19.37:g.57641313G>T	ENSP00000254181:p.Val424Phe						p.V424F	NM_020903	NP_065954	Q9HBJ7	UBP29_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)	4	1626	+		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)	424						Missense_Mutation	SNP	ENST00000254181.4	37	c.1270G>T	CCDS33124.1	.	.	.	.	.	.	.	.	.	.	G	9.740	1.164494	0.21538	.	.	ENSG00000131864	ENST00000254181	T	0.36157	1.27	2.69	1.64	0.23874	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.000000	0.40728	U	0.001032	T	0.55545	0.1927	M	0.80332	2.49	0.22001	N	0.999425	D	0.89917	1.0	D	0.80764	0.994	T	0.41980	-0.9478	10	0.87932	D	0	-9.2689	7.638	0.28277	0.1364:0.0:0.8635:0.0	.	424	Q9HBJ7	UBP29_HUMAN	F	424	ENSP00000254181:V424F	ENSP00000254181:V424F	V	+	1	0	USP29	62333125	1.000000	0.71417	0.021000	0.16686	0.091000	0.18340	5.596000	0.67570	0.659000	0.30945	0.591000	0.81541	GTT		PASS	0.388	USP29-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465075.1			92	154	92	154	---	---	---	---
ZIK1	284307	broad.mit.edu	37	19	58101882	58101882	+	Nonsense_Mutation	SNP	G	G	T	rs548005458		TCGA-66-2756-01A-01D-1522-08	TCGA-66-2756-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	472c95e6-eccb-4988-be16-fdace73b2ed8	ff4f5936-f847-42ad-aedf-6a6a7fff6002	g.chr19:58101882G>T	ENST00000597850.1	+	4	918	c.703G>T	c.(703-705)Gga>Tga	p.G235*	ZIK1_ENST00000536878.2_Nonsense_Mutation_p.G222*|ZIK1_ENST00000599456.1_Nonsense_Mutation_p.G180*|ZIK1_ENST00000307468.4_3'UTR	NM_001010879.2	NP_001010879.2	Q3SY52	ZIK1_HUMAN	zinc finger protein interacting with K protein 1	235					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.G235*(1)		NS(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(10)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	34		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)		AGTCTACACTGGAAAAAAGCT	0.468																																						uc002qpg.2																			1	Substitution - Nonsense(1)		lung(1)	central_nervous_system(1)|skin(1)	2						c.(703-705)GGA>TGA		zinc finger protein interacting with K protein							54.0	55.0	55.0					19																	58101882		2203	4300	6503	SO:0001587	stop_gained	284307				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:58101882G>T	AK092538	CCDS33135.1	19q13.43	2013-01-08	2012-12-07		ENSG00000171649	ENSG00000171649		"""Zinc fingers, C2H2-type"", ""-"""	33104	protein-coding gene	gene with protein product			"""zinc finger protein interacting with K protein 1 homolog (mouse)"""				Standard	XM_005258769		Approved	ZNF762	uc002qpg.3	Q3SY52		ENST00000597850.1:c.703G>T	19.37:g.58101882G>T	ENSP00000472867:p.Gly235*					ZNF547_uc002qpm.3_Intron|ZIK1_uc002qph.2_Nonsense_Mutation_p.G180*|ZIK1_uc002qpi.2_Nonsense_Mutation_p.G222*|ZIK1_uc002qpj.2_Nonsense_Mutation_p.G132*	p.G235*	NM_001010879	NP_001010879	Q3SY52	ZIK1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)	4	800	+		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.156)	235					O43339|Q3SY51|Q3SY53	Nonsense_Mutation	SNP	ENST00000597850.1	37	c.703G>T	CCDS33135.1	.	.	.	.	.	.	.	.	.	.	G	36	5.680552	0.96774	.	.	ENSG00000171649	ENST00000536878;ENST00000356724;ENST00000307468	.	.	.	3.36	1.17	0.20885	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.49607	T	0.09	.	7.7505	0.28894	0.1043:0.171:0.7247:0.0	.	.	.	.	X	222;216;235	.	ENSP00000303820:G235X	G	+	1	0	ZIK1	62793694	0.004000	0.15560	0.001000	0.08648	0.559000	0.35586	0.871000	0.28023	0.726000	0.32339	0.650000	0.86243	GGA		PASS	0.468	ZIK1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000466791.1	NM_001010879		35	70	35	70	---	---	---	---
ZSCAN4	201516	broad.mit.edu	37	19	58189414	58189414	+	Missense_Mutation	SNP	A	A	G			TCGA-66-2756-01A-01D-1522-08	TCGA-66-2756-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	472c95e6-eccb-4988-be16-fdace73b2ed8	ff4f5936-f847-42ad-aedf-6a6a7fff6002	g.chr19:58189414A>G	ENST00000318203.5	+	4	1226	c.529A>G	c.(529-531)Act>Gct	p.T177A		NM_152677.2	NP_689890.1	Q8NAM6	ZSCA4_HUMAN	zinc finger and SCAN domain containing 4	177					telomere maintenance via telomere lengthening (GO:0010833)|transcription, DNA-templated (GO:0006351)	nuclear chromosome, telomeric region (GO:0000784)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.T177A(1)		endometrium(3)|large_intestine(5)|liver(2)|lung(17)|ovary(1)|skin(1)|stomach(1)	30		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		ACCCTCCCAGACTTCCCAAGA	0.438																																						uc002qpu.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(529-531)ACT>GCT		zinc finger and SCAN domain containing 4							93.0	93.0	93.0					19																	58189414		2203	4300	6503	SO:0001583	missense	201516				telomere maintenance via telomere lengthening|viral reproduction	nuclear chromosome, telomeric region	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:58189414A>G	AK092424	CCDS12958.1	19q13.43	2013-01-08	2004-11-01	2004-11-02		ENSG00000180532		"""-"", ""Zinc fingers, C2H2-type"""	23709	protein-coding gene	gene with protein product		613419	"""zinc finger protein 494"""	ZNF494			Standard	NM_152677		Approved	FLJ35105	uc002qpu.3	Q8NAM6		ENST00000318203.5:c.529A>G	19.37:g.58189414A>G	ENSP00000321963:p.Thr177Ala						p.T177A	NM_152677	NP_689890	Q8NAM6	ZSCA4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)	4	1226	+		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)	177					Q3MIQ2	Missense_Mutation	SNP	ENST00000318203.5	37	c.529A>G	CCDS12958.1	.	.	.	.	.	.	.	.	.	.	A	10.55	1.383039	0.25031	.	.	ENSG00000180532	ENST00000318203	T	0.06687	3.27	4.42	-0.089	0.13670	.	1.207360	0.05869	N	0.624353	T	0.06600	0.0169	L	0.43923	1.385	0.09310	N	1	B	0.14438	0.01	B	0.16289	0.015	T	0.43861	-0.9365	10	0.07644	T	0.81	-0.2216	3.9705	0.09451	0.5182:0.1838:0.298:0.0	.	177	Q8NAM6	ZSCA4_HUMAN	A	177	ENSP00000321963:T177A	ENSP00000321963:T177A	T	+	1	0	ZSCAN4	62881226	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-0.270000	0.08584	-0.103000	0.12175	0.533000	0.62120	ACT		PASS	0.438	ZSCAN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466812.1	NM_152677		51	70	51	70	---	---	---	---
C20orf141	128653	broad.mit.edu	37	20	2796245	2796245	+	Missense_Mutation	SNP	G	G	C			TCGA-66-2756-01A-01D-1522-08	TCGA-66-2756-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	472c95e6-eccb-4988-be16-fdace73b2ed8	ff4f5936-f847-42ad-aedf-6a6a7fff6002	g.chr20:2796245G>C	ENST00000380589.4	+	2	496	c.322G>C	c.(322-324)Ggt>Cgt	p.G108R	TMEM239_ENST00000361033.1_5'Flank|TMEM239_ENST00000554164.1_Intron|TMEM239_ENST00000380593.4_Intron|TMEM239_ENST00000380585.1_5'Flank|C20orf141_ENST00000603872.1_Missense_Mutation_p.G108R	NM_080739.2	NP_542777.1	Q9NUB4	CT141_HUMAN	chromosome 20 open reading frame 141	108	Leu-rich.					integral component of membrane (GO:0016021)		p.G108R(1)		endometrium(4)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)	10						TCAGGGGGCCGGTGAAGGTCC	0.607																																						uc010gat.2																			1	Substitution - Missense(1)		lung(1)		0						c.(322-324)GGT>CGT		hypothetical protein LOC128653							39.0	39.0	39.0					20																	2796245		2203	4300	6503	SO:0001583	missense	128653					integral to membrane		g.chr20:2796245G>C		CCDS13034.1	20p13	2012-10-30			ENSG00000258713	ENSG00000258713			16134	protein-coding gene	gene with protein product							Standard	NM_001256538		Approved	dJ860F19.4	uc002wgw.3	Q9NUB4	OTTHUMG00000031707	ENST00000380589.4:c.322G>C	20.37:g.2796245G>C	ENSP00000369963:p.Gly108Arg					C20orf141_uc002wgv.1_Intron|C20orf141_uc002wgw.2_Missense_Mutation_p.G108R|uc002wgx.1_5'Flank|uc002wgy.1_5'Flank	p.G108R	NM_080739	NP_542777	Q9NUB4	CT141_HUMAN			3	405	+			108			Leu-rich.			Missense_Mutation	SNP	ENST00000380589.4	37	c.322G>C	CCDS13034.1	.	.	.	.	.	.	.	.	.	.	G	11.90	1.777282	0.31411	.	.	ENSG00000258713	ENST00000380589	.	.	.	3.57	2.62	0.31277	.	.	.	.	.	T	0.41351	0.1155	N	0.24115	0.695	0.22666	N	0.998874	D	0.89917	1.0	D	0.77004	0.989	T	0.12319	-1.0552	8	0.87932	D	0	-2.5677	6.8092	0.23794	0.1282:0.0:0.8718:0.0	.	108	Q9NUB4	CT141_HUMAN	R	108	.	ENSP00000369963:G108R	G	+	1	0	AL035460.3	2744245	0.972000	0.33761	0.624000	0.29186	0.104000	0.19210	2.676000	0.46883	1.095000	0.41419	0.655000	0.94253	GGT		PASS	0.607	C20orf141-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077644.2	NM_080739		29	18	29	18	---	---	---	---
CFAP61	26074	broad.mit.edu	37	20	20232368	20232368	+	Silent	SNP	C	C	A			TCGA-66-2756-01A-01D-1522-08	TCGA-66-2756-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	472c95e6-eccb-4988-be16-fdace73b2ed8	ff4f5936-f847-42ad-aedf-6a6a7fff6002	g.chr20:20232368C>A	ENST00000245957.5	+	20	2365	c.2289C>A	c.(2287-2289)ccC>ccA	p.P763P	C20orf26_ENST00000377293.1_Silent_p.P119P|C20orf26_ENST00000389656.3_Silent_p.P119P|C20orf26_ENST00000377309.2_Silent_p.P119P	NM_015585.3	NP_056400.3	Q8NHU2	CT026_HUMAN		763								p.P763P(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)		AGATCGTGCCCTACGACCACC	0.587																																						uc002wru.2																			1	Substitution - coding silent(1)		lung(1)	ovary(3)|pancreas(1)	4						c.(2287-2289)CCC>CCA		hypothetical protein LOC26074							134.0	109.0	117.0					20																	20232368		2203	4300	6503	SO:0001819	synonymous_variant	26074							g.chr20:20232368C>A																												ENST00000245957.5:c.2289C>A	20.37:g.20232368C>A						C20orf26_uc010zse.1_Silent_p.P743P|C20orf26_uc002wrw.2_RNA|C20orf26_uc002wrv.2_Silent_p.P119P	p.P763P	NM_015585	NP_056400	Q8NHU2	CT026_HUMAN		READ - Rectum adenocarcinoma(2;0.171)	20	2365	+			763					A6NHA1|Q5JXV4|Q5TE18|Q8N5R9|Q96M59|Q9BQL2|Q9H127|Q9H128|Q9NQH4|Q9UFV8|Q9Y4V7	Silent	SNP	ENST00000245957.5	37	c.2289C>A	CCDS33447.1																																																																																				PASS	0.587	C20orf26-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078228.3			121	79	121	79	---	---	---	---
ASXL1	171023	broad.mit.edu	37	20	31024449	31024449	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2756-01A-01D-1522-08	TCGA-66-2756-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	472c95e6-eccb-4988-be16-fdace73b2ed8	ff4f5936-f847-42ad-aedf-6a6a7fff6002	g.chr20:31024449G>T	ENST00000375687.4	+	13	4358	c.3934G>T	c.(3934-3936)Gca>Tca	p.A1312S	ASXL1_ENST00000306058.5_Missense_Mutation_p.A1307S	NM_015338.5	NP_056153	Q8IXJ9	ASXL1_HUMAN	additional sex combs like transcriptional regulator 1	1312					bone development (GO:0060348)|monoubiquitinated histone H2A deubiquitination (GO:0035522)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of peroxisome proliferator activated receptor signaling pathway (GO:0035359)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of retinoic acid receptor signaling pathway (GO:0048386)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to retinoic acid (GO:0032526)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nuclear chromatin (GO:0000790)|PR-DUB complex (GO:0035517)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|peroxisome proliferator activated receptor binding (GO:0042975)|retinoic acid receptor binding (GO:0042974)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)	p.A1312fs*17(1)|p.A1312S(1)		NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(655)|kidney(5)|large_intestine(18)|liver(1)|lung(27)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	722						GAATGTGGCTGCAACCCTTCA	0.567			"""F, N, Mis"""		"""MDS, CMML"""																																	uc002wxs.2				Rec	yes		20	20q11.1	171023	F|N|Mis	additional sex combs like 1			L			MDS|CMML		2	Substitution - Missense(1)|Insertion - Frameshift(1)	p.A1312V(1)	large_intestine(1)|lung(1)	haematopoietic_and_lymphoid_tissue(239)|large_intestine(6)|central_nervous_system(2)|ovary(1)	248						c.(3934-3936)GCA>TCA		additional sex combs like 1 isoform 1							52.0	52.0	52.0					20																	31024449		2203	4300	6503	SO:0001583	missense	171023				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	PR-DUB complex	metal ion binding|protein binding	g.chr20:31024449G>T	AJ438952	CCDS13201.1	20q11	2014-09-17	2014-06-17		ENSG00000171456	ENSG00000171456			18318	protein-coding gene	gene with protein product		612990	"""additional sex combs like 1 (Drosophila)"""			12657473	Standard	NM_015338		Approved	KIAA0978	uc002wxs.3	Q8IXJ9	OTTHUMG00000032218	ENST00000375687.4:c.3934G>T	20.37:g.31024449G>T	ENSP00000364839:p.Ala1312Ser					ASXL1_uc010geb.2_Missense_Mutation_p.A1203S	p.A1312S	NM_015338	NP_056153	Q8IXJ9	ASXL1_HUMAN			12	4360	+			1312					B2RP59|Q5JWS9|Q8IYY7|Q9H466|Q9NQF8|Q9UFJ0|Q9UFP8|Q9Y2I4	Missense_Mutation	SNP	ENST00000375687.4	37	c.3934G>T	CCDS13201.1	.	.	.	.	.	.	.	.	.	.	G	10.47	1.358712	0.24598	.	.	ENSG00000171456	ENST00000358956;ENST00000375687;ENST00000421155;ENST00000412498;ENST00000306058	T;T	0.14640	2.49;2.49	4.56	1.53	0.23141	.	0.311519	0.34959	N	0.003551	T	0.06826	0.0174	L	0.29908	0.895	0.09310	N	1	P;P	0.35077	0.483;0.483	B;B	0.27887	0.084;0.084	T	0.35822	-0.9773	10	0.18710	T	0.47	-0.9415	6.065	0.19858	0.227:0.1388:0.6342:0.0	.	1307;1312	A6NIZ6;Q8IXJ9	.;ASXL1_HUMAN	S	1312;1312;1312;1233;1307	ENSP00000364839:A1312S;ENSP00000305119:A1307S	ENSP00000305119:A1307S	A	+	1	0	ASXL1	30488110	0.000000	0.05858	0.084000	0.20598	0.958000	0.62258	-0.137000	0.10389	0.410000	0.25675	0.561000	0.74099	GCA		PASS	0.567	ASXL1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000078624.2	NM_015338		30	81	30	81	---	---	---	---
GDF5	8200	broad.mit.edu	37	20	34021838	34021838	+	Nonsense_Mutation	SNP	C	C	A			TCGA-66-2756-01A-01D-1522-08	TCGA-66-2756-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	472c95e6-eccb-4988-be16-fdace73b2ed8	ff4f5936-f847-42ad-aedf-6a6a7fff6002	g.chr20:34021838C>A	ENST00000374372.1	-	4	1878	c.1375G>T	c.(1375-1377)Gag>Tag	p.E459*	GDF5OS_ENST00000374375.1_5'UTR|GDF5_ENST00000374369.3_Nonsense_Mutation_p.E459*			P43026	GDF5_HUMAN	growth differentiation factor 5	459					cell-cell signaling (GO:0007267)|chondrocyte differentiation (GO:0002062)|embryonic limb morphogenesis (GO:0030326)|extracellular matrix organization (GO:0030198)|forelimb morphogenesis (GO:0035136)|growth (GO:0040007)|hindlimb morphogenesis (GO:0035137)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of mesenchymal cell apoptotic process (GO:2001054)|negative regulation of neuron apoptotic process (GO:0043524)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of neuron differentiation (GO:0045666)|regulation of multicellular organism growth (GO:0040014)|transforming growth factor beta receptor signaling pathway (GO:0007179)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)	growth factor activity (GO:0008083)	p.E459*(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(3)|lung(9)|skin(3)	26	Lung NSC(9;0.00642)|all_lung(11;0.0094)		BRCA - Breast invasive adenocarcinoma(18;0.00663)			GGTGTGGACTCGGGGTCCATG	0.582																																						uc002xck.1																			1	Substitution - Nonsense(1)		lung(1)		0						c.(1375-1377)GAG>TAG		growth differentiation factor 5 preproprotein							126.0	117.0	120.0					20																	34021838		2203	4300	6503	SO:0001587	stop_gained	8200				cartilage development|cell-cell signaling|growth|transforming growth factor beta receptor signaling pathway	extracellular space	cytokine activity|growth factor activity	g.chr20:34021838C>A	X80915	CCDS13254.1	20q11.2	2008-05-22	2007-04-12		ENSG00000125965	ENSG00000125965			4220	protein-coding gene	gene with protein product	"""cartilage-derived morphogenetic protein-1"""	601146				9288091, 9288098	Standard	NM_000557		Approved	CDMP1, BMP14	uc002xck.1	P43026	OTTHUMG00000032341	ENST00000374372.1:c.1375G>T	20.37:g.34021838C>A	ENSP00000363492:p.Glu459*					GDF5_uc010gfc.1_Nonsense_Mutation_p.E459*|uc002xcj.2_Silent_p.L83L|GDF5_uc010zvc.1_Nonsense_Mutation_p.E459*	p.E459*	NM_000557	NP_000548	P43026	GDF5_HUMAN	BRCA - Breast invasive adenocarcinoma(18;0.00663)		2	1694	-	Lung NSC(9;0.00642)|all_lung(11;0.0094)		459					E1P5Q2|Q96SB1	Nonsense_Mutation	SNP	ENST00000374372.1	37	c.1375G>T	CCDS13254.1	.	.	.	.	.	.	.	.	.	.	C	39	7.886966	0.98542	.	.	ENSG00000125965	ENST00000374369;ENST00000374372	.	.	.	4.41	4.41	0.53225	.	0.127939	0.51477	D	0.000083	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.24483	T	0.36	.	17.1807	0.86854	0.0:1.0:0.0:0.0	.	.	.	.	X	459	.	ENSP00000363489:E459X	E	-	1	0	GDF5	33485252	0.976000	0.34144	0.988000	0.46212	0.976000	0.68499	2.474000	0.45154	2.259000	0.74868	0.555000	0.69702	GAG		PASS	0.582	GDF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078875.2			42	35	42	35	---	---	---	---
ZNF335	63925	broad.mit.edu	37	20	44592562	44592562	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2756-01A-01D-1522-08	TCGA-66-2756-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	472c95e6-eccb-4988-be16-fdace73b2ed8	ff4f5936-f847-42ad-aedf-6a6a7fff6002	g.chr20:44592562C>A	ENST00000322927.2	-	8	1270	c.1170G>T	c.(1168-1170)gaG>gaT	p.E390D	ZNF335_ENST00000426788.1_Missense_Mutation_p.E235D|ZNF335_ENST00000494955.1_5'Flank	NM_022095.3	NP_071378.1	Q9H4Z2	ZN335_HUMAN	zinc finger protein 335	390					brain development (GO:0007420)|brain morphogenesis (GO:0048854)|cerebral cortex neuron differentiation (GO:0021895)|histone H3-K4 trimethylation (GO:0080182)|in utero embryonic development (GO:0001701)|neuron projection morphogenesis (GO:0048812)|positive regulation of lymphocyte proliferation (GO:0050671)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of neurogenesis (GO:0050769)|regulation of gene expression, epigenetic (GO:0040029)|regulation of histone H3-K4 methylation (GO:0051569)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|transcription regulatory region DNA binding (GO:0044212)	p.E390D(1)		NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(13)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	51		Myeloproliferative disorder(115;0.0122)				AGCTGGGAGCCTCGGGATCCT	0.627																																						uc002xqw.2																			1	Substitution - Missense(1)		lung(1)	skin(3)|ovary(1)	4						c.(1168-1170)GAG>GAT		zinc finger protein 335							51.0	46.0	48.0					20																	44592562		2203	4300	6503	SO:0001583	missense	63925				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr20:44592562C>A	AK026157	CCDS13389.1	20q13.12	2011-09-12			ENSG00000198026	ENSG00000198026		"""Zinc fingers, C2H2-type"""	15807	protein-coding gene	gene with protein product	"""NRC-interacting factor 1"""	610827				12215545, 19131338	Standard	NM_022095		Approved	bA465L10.2, NIF-1	uc002xqw.3	Q9H4Z2	OTTHUMG00000032637	ENST00000322927.2:c.1170G>T	20.37:g.44592562C>A	ENSP00000325326:p.Glu390Asp					ZNF335_uc010zxk.1_Missense_Mutation_p.E235D	p.E390D	NM_022095	NP_071378	Q9H4Z2	ZN335_HUMAN			8	1293	-		Myeloproliferative disorder(115;0.0122)	390					B4DLG7|Q548D0|Q9H684	Missense_Mutation	SNP	ENST00000322927.2	37	c.1170G>T	CCDS13389.1	.	.	.	.	.	.	.	.	.	.	C	15.81	2.942557	0.53079	.	.	ENSG00000198026	ENST00000322927;ENST00000243961;ENST00000426788	T;T	0.10477	3.0;2.87	4.72	-4.07	0.03975	.	0.117745	0.56097	D	0.000028	T	0.13586	0.0329	L	0.29908	0.895	0.38317	D	0.943406	D;D	0.61697	0.974;0.99	D;P	0.70487	0.969;0.76	T	0.03413	-1.1039	10	0.36615	T	0.2	-25.9256	7.6742	0.28476	0.0:0.2493:0.132:0.6188	.	235;390	Q9H4Z2-2;Q9H4Z2	.;ZN335_HUMAN	D	390;167;235	ENSP00000325326:E390D;ENSP00000397098:E235D	ENSP00000243961:E167D	E	-	3	2	ZNF335	44025969	0.983000	0.35010	0.047000	0.18901	0.956000	0.61745	0.090000	0.15025	-0.900000	0.03896	-0.378000	0.06908	GAG		PASS	0.627	ZNF335-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079553.1	NM_022095		52	30	52	30	---	---	---	---
RBM38	55544	broad.mit.edu	37	20	55966871	55966871	+	Silent	SNP	C	C	T			TCGA-66-2756-01A-01D-1522-08	TCGA-66-2756-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	472c95e6-eccb-4988-be16-fdace73b2ed8	ff4f5936-f847-42ad-aedf-6a6a7fff6002	g.chr20:55966871C>T	ENST00000356208.5	+	1	409	c.234C>T	c.(232-234)ggC>ggT	p.G78G	RP4-800J21.3_ENST00000417346.1_RNA|RBM38_ENST00000371219.2_5'Flank|RBM38_ENST00000440234.2_Silent_p.G78G	NM_017495.5	NP_059965.2	Q9H0Z9	RBM38_HUMAN	RNA binding motif protein 38	78	RRM. {ECO:0000255|PROSITE- ProRule:PRU00176}.				3'-UTR-mediated mRNA stabilization (GO:0070935)|cell cycle (GO:0007049)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|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)|mRNA processing (GO:0006397)|negative regulation of cell proliferation (GO:0008285)|regulation of myotube differentiation (GO:0010830)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	mRNA 3'-UTR binding (GO:0003730)|mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.G78G(1)		large_intestine(3)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	9	Lung NSC(12;0.00242)|all_lung(29;0.00767)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(4;1.55e-12)|Epithelial(14;9.49e-09)|all cancers(14;5.01e-08)			GCGGCTACGGCTTCGTAAGTg	0.726																																						uc010zzj.1																			1	Substitution - coding silent(1)		lung(1)		0						c.(232-234)GGC>GGT		RNA-binding region containing protein 1 isoform							11.0	15.0	14.0					20																	55966871		1863	4068	5931	SO:0001819	synonymous_variant	55544				3'-UTR-mediated mRNA stabilization|cell cycle|cell cycle arrest|cell differentiation|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 transcription of p21 class mediator|mRNA processing|negative regulation of cell proliferation|regulation of RNA splicing|RNA splicing	cytosol|cytosol|nucleus|nucleus	mRNA 3'-UTR binding|mRNA binding|nucleotide binding|RNA binding	g.chr20:55966871C>T	X75314	CCDS46617.1, CCDS46618.1	20q13.31	2013-02-12	2006-07-11	2006-07-11	ENSG00000132819	ENSG00000132819		"""RNA binding motif (RRM) containing"""	15818	protein-coding gene	gene with protein product		612428	"""RNA-binding region (RNP1, RRM) containing 1"""	RNPC1			Standard	NM_017495		Approved	HSRNASEB, SEB4D, seb4B, dJ800J21.2	uc010zzj.2	Q9H0Z9	OTTHUMG00000032820	ENST00000356208.5:c.234C>T	20.37:g.55966871C>T						RBM38_uc010zzk.1_Silent_p.G78G	p.G78G	NM_017495	NP_059965	Q9H0Z9	RBM38_HUMAN	BRCA - Breast invasive adenocarcinoma(4;1.55e-12)|Epithelial(14;9.49e-09)|all cancers(14;5.01e-08)		1	409	+	Lung NSC(12;0.00242)|all_lung(29;0.00767)|Melanoma(10;0.242)		78			RRM.		A6NDK1|A6NMU6|Q15350|Q15351|Q9BYK3|Q9BYK4	Silent	SNP	ENST00000356208.5	37	c.234C>T	CCDS46617.1																																																																																				PASS	0.726	RBM38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079843.4	NM_183425		5	3	5	3	---	---	---	---
KCNQ2	3785	broad.mit.edu	37	20	62065179	62065179	+	Silent	SNP	G	G	T			TCGA-66-2756-01A-01D-1522-08	TCGA-66-2756-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	472c95e6-eccb-4988-be16-fdace73b2ed8	ff4f5936-f847-42ad-aedf-6a6a7fff6002	g.chr20:62065179G>T	ENST00000359125.2	-	8	1275	c.1101C>A	c.(1099-1101)gtC>gtA	p.V367V	KCNQ2_ENST00000482957.1_5'UTR|KCNQ2_ENST00000357249.2_Silent_p.V367V|KCNQ2_ENST00000370224.1_Silent_p.V367V|KCNQ2_ENST00000354587.3_Silent_p.V367V|KCNQ2_ENST00000360480.3_Silent_p.V367V|KCNQ2_ENST00000344425.5_Silent_p.V367V|KCNQ2_ENST00000359689.1_Silent_p.V367V|KCNQ2_ENST00000344462.4_Silent_p.V367V	NM_172107.2	NP_742105.1	O43526	KCNQ2_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 2	367					axon guidance (GO:0007411)|nervous system development (GO:0007399)|potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268)|transmission of nerve impulse (GO:0019226)	axon initial segment (GO:0043194)|node of Ranvier (GO:0033268)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	ankyrin binding (GO:0030506)|delayed rectifier potassium channel activity (GO:0005251)|potassium channel activity (GO:0005267)|voltage-gated potassium channel activity (GO:0005249)	p.V367V(2)		biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(4)|liver(1)|lung(30)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	65	all_cancers(38;1.24e-11)		BRCA - Breast invasive adenocarcinoma(10;1.04e-05)		Amitriptyline(DB00321)|Diclofenac(DB00586)|Ezogabine(DB04953)|Meclofenamic acid(DB00939)	TGGGCACGGTGACCGTTCGCT	0.542																																						uc002yey.1																			2	Substitution - coding silent(2)		lung(2)	upper_aerodigestive_tract(1)|ovary(1)	2						c.(1099-1101)GTC>GTA		potassium voltage-gated channel KQT-like protein	Amitriptyline(DB00321)						130.0	111.0	118.0					20																	62065179		2203	4300	6503	SO:0001819	synonymous_variant	3785				axon guidance|synaptic transmission	voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr20:62065179G>T	AF033348	CCDS13518.1, CCDS13519.1, CCDS13520.1, CCDS13521.1, CCDS46629.1	20q13.33	2012-07-05			ENSG00000075043	ENSG00000075043		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6296	protein-coding gene	gene with protein product		602235		EBN, EBN1		9425895, 16382104	Standard	NM_172107		Approved	Kv7.2, ENB1, BFNC, KCNA11, HNSPC	uc002yex.3	O43526	OTTHUMG00000033049	ENST00000359125.2:c.1101C>A	20.37:g.62065179G>T						KCNQ2_uc002yez.1_Silent_p.V367V|KCNQ2_uc002yfa.1_Silent_p.V367V|KCNQ2_uc002yfb.1_Silent_p.V367V|KCNQ2_uc011aax.1_Silent_p.V367V|KCNQ2_uc002yfc.1_Silent_p.V367V	p.V367V	NM_172107	NP_742105	O43526	KCNQ2_HUMAN	BRCA - Breast invasive adenocarcinoma(10;1.04e-05)		8	1278	-	all_cancers(38;1.24e-11)		367			Cytoplasmic (Potential).		O43796|O75580|O95845|Q4VXP4|Q4VXR6|Q5VYT8|Q96J59|Q99454	Silent	SNP	ENST00000359125.2	37	c.1101C>A	CCDS13520.1																																																																																				PASS	0.542	KCNQ2-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000080353.1	NM_172109		113	61	113	61	---	---	---	---
ZNF512B	57473	broad.mit.edu	37	20	62669721	62669721	+	Intron	SNP	G	G	T			TCGA-66-2756-01A-01D-1522-08	TCGA-66-2756-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	472c95e6-eccb-4988-be16-fdace73b2ed8	ff4f5936-f847-42ad-aedf-6a6a7fff6002	g.chr20:62669721G>T	ENST00000450537.1	-	1	56				LINC00176_ENST00000444463.1_lincRNA|ZNF512B_ENST00000217130.3_Intron			Q96KM6	Z512B_HUMAN	zinc finger protein 512B						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.R55L(1)		NS(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(16)|ovary(1)|prostate(4)|skin(1)	33	all_cancers(38;2.14e-11)|all_epithelial(29;3.41e-13)|Lung NSC(23;3.41e-09)|all_lung(23;1.06e-08)					gggccgccgcggggcccTGGA	0.726																																						uc002yhq.2																			1	Substitution - Missense(1)		lung(1)		0								Homo sapiens cDNA FLJ27267 fis, clone TMS00367.							6.0	7.0	7.0					20																	62669721		1910	3832	5742	SO:0001627	intron_variant	284739							g.chr20:62669721G>T	AB033022	CCDS13548.1	20q13.33	2011-02-09			ENSG00000196700	ENSG00000196700			29212	protein-coding gene	gene with protein product						10574462	Standard	NM_020713		Approved	GM632, MGC149845, MGC149846	uc002yhl.2	Q96KM6	OTTHUMG00000033008	ENST00000450537.1:c.4+10336C>A	20.37:g.62669721G>T						NCRNA00176_uc011abq.1_Intron|NCRNA00176_uc010gko.2_Intron		NR_027686						3		+								Q08AK9|Q9ULM4	RNA	SNP	ENST00000450537.1	37	c.3843G>T	CCDS13548.1																																																																																				PASS	0.726	ZNF512B-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080246.1	NM_020713		5	11	5	11	---	---	---	---
PCMTD2	55251	broad.mit.edu	37	20	62896781	62896781	+	Splice_Site	SNP	A	A	T			TCGA-66-2756-01A-01D-1522-08	TCGA-66-2756-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	472c95e6-eccb-4988-be16-fdace73b2ed8	ff4f5936-f847-42ad-aedf-6a6a7fff6002	g.chr20:62896781A>T	ENST00000308824.6	+	4	708	c.581A>T	c.(580-582)aAg>aTg	p.K194M	PCMTD2_ENST00000609372.1_Intron|PCMTD2_ENST00000369758.4_Splice_Site_p.K194M|PCMTD2_ENST00000299468.7_Splice_Site_p.K194M	NM_018257.2	NP_060727.2	Q9NV79	PCMD2_HUMAN	protein-L-isoaspartate (D-aspartate) O-methyltransferase domain containing 2	194						cytoplasm (GO:0005737)	protein-L-isoaspartate (D-aspartate) O-methyltransferase activity (GO:0004719)	p.K194M(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|lung(9)|upper_aerodigestive_tract(1)	17	all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09)					CTGGAAGAGAAGGTCAGATTC	0.458																																						uc002yil.3																			1	Substitution - Missense(1)		lung(1)		0						c.(580-582)AAG>ATG		protein-L-isoaspartate (D-aspartate)							134.0	112.0	119.0					20																	62896781		2203	4300	6503	SO:0001630	splice_region_variant	55251					cytoplasm	protein-L-isoaspartate (D-aspartate) O-methyltransferase activity	g.chr20:62896781A>T	AK001745	CCDS13559.1, CCDS46631.1	20q13.33	2012-10-02	2005-10-06	2005-10-06	ENSG00000203880	ENSG00000203880			15882	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 36"""	C20orf36			Standard	NM_018257		Approved	FLJ10883	uc002yil.4	Q9NV79	OTTHUMG00000033029	ENST00000308824.6:c.582+1A>T	20.37:g.62896781A>T						PCMTD2_uc002yim.3_Missense_Mutation_p.K194M	p.K194M	NM_018257	NP_060727	Q9NV79	PCMD2_HUMAN			4	781	+	all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09)		194					E1P5H3|Q8IW60|Q9H4K2	Missense_Mutation	SNP	ENST00000308824.6	37	c.581A>T	CCDS13559.1	.	.	.	.	.	.	.	.	.	.	.	19.06	3.753232	0.69648	.	.	ENSG00000203880	ENST00000369758;ENST00000299468;ENST00000308824	T;T;T	0.46819	0.86;0.95;0.95	5.11	5.11	0.69529	.	0.000000	0.85682	D	0.000000	T	0.62502	0.2433	L	0.58101	1.795	0.80722	D	1	D;D	0.64830	0.993;0.994	P;D	0.68353	0.905;0.957	T	0.59500	-0.7443	10	0.27785	T	0.31	-38.9095	14.8788	0.70516	1.0:0.0:0.0:0.0	.	194;194	Q9NV79-2;Q9NV79	.;PCMD2_HUMAN	M	194	ENSP00000358773:K194M;ENSP00000299468:K194M;ENSP00000307854:K194M	ENSP00000299468:K194M	K	+	2	0	PCMTD2	62367225	1.000000	0.71417	1.000000	0.80357	0.307000	0.27823	8.899000	0.92544	1.924000	0.55735	0.254000	0.18369	AAG		PASS	0.458	PCMTD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080301.1	NM_018257	Missense_Mutation	54	38	54	38	---	---	---	---
LIPI	149998	broad.mit.edu	37	21	15554143	15554143	+	Silent	SNP	T	T	A			TCGA-66-2756-01A-01D-1522-08	TCGA-66-2756-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	472c95e6-eccb-4988-be16-fdace73b2ed8	ff4f5936-f847-42ad-aedf-6a6a7fff6002	g.chr21:15554143T>A	ENST00000536861.1	-	4	578	c.579A>T	c.(577-579)ccA>ccT	p.P193P	LIPI_ENST00000344577.2_Silent_p.P214P			Q6XZB0	LIPI_HUMAN	lipase, member I	193					lipid catabolic process (GO:0016042)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)|plasma membrane (GO:0005886)	heparin binding (GO:0008201)|phospholipase activity (GO:0004620)	p.P214P(1)		endometrium(1)|kidney(13)|large_intestine(9)|liver(3)|lung(24)|ovary(3)|urinary_tract(1)	54				Epithelial(23;0.000155)|COAD - Colon adenocarcinoma(22;0.0015)|Colorectal(24;0.00693)|Lung(58;0.166)		TGCTATATGGTGGTTTTCTGG	0.398																																						uc002yjm.2																			1	Substitution - coding silent(1)		lung(1)	ovary(2)	2						c.(640-642)CCA>CCT		lipase, member I							96.0	91.0	93.0					21																	15554143		2203	4300	6503	SO:0001819	synonymous_variant	149998				lipid catabolic process	extracellular region|extracellular space|membrane|plasma membrane	heparin binding|phospholipase activity	g.chr21:15554143T>A	BC028732	CCDS13564.1	21q11.2	2012-07-31			ENSG00000188992	ENSG00000188992			18821	protein-coding gene	gene with protein product	"""membrane-associated phospholipase A1 beta"", ""cancer/testis antigen 17"""	609252				12719377	Standard	XM_005260924		Approved	PRED5, LPDL, CT17, mPA-PLA1beta, PLA1C	uc002yjm.3	Q6XZB0	OTTHUMG00000074258	ENST00000536861.1:c.579A>T	21.37:g.15554143T>A						LIPI_uc010gkw.1_Silent_p.P147P	p.P214P	NM_198996	NP_945347	Q6XZB0	LIPI_HUMAN		Epithelial(23;0.000155)|COAD - Colon adenocarcinoma(22;0.0015)|Colorectal(24;0.00693)|Lung(58;0.166)	4	652	-			193					G1JSG3|G1JSG4|G1JSG5|G1JSG6|G1JSG7|G1JSG8|G1JSG9	Silent	SNP	ENST00000536861.1	37	c.642A>T		.	.	.	.	.	.	.	.	.	.	T	0.078	-1.188245	0.01607	.	.	ENSG00000188992	ENST00000400211	.	.	.	5.46	-1.39	0.08997	.	.	.	.	.	T	0.39517	0.1081	.	.	.	0.41670	D	0.98923	.	.	.	.	.	.	T	0.24297	-1.0164	4	.	.	.	.	1.5717	0.02616	0.1163:0.27:0.2405:0.3732	.	.	.	.	S	73	.	.	T	-	1	0	LIPI	14476014	0.223000	0.23663	0.039000	0.18376	0.002000	0.02628	-0.327000	0.07955	-0.387000	0.07809	-1.140000	0.01884	ACC		PASS	0.398	LIPI-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_198996		41	29	41	29	---	---	---	---
CLDN17	26285	broad.mit.edu	37	21	31538288	31538288	+	Silent	SNP	A	A	T			TCGA-66-2756-01A-01D-1522-08	TCGA-66-2756-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	472c95e6-eccb-4988-be16-fdace73b2ed8	ff4f5936-f847-42ad-aedf-6a6a7fff6002	g.chr21:31538288A>T	ENST00000286808.3	-	1	683	c.648T>A	c.(646-648)ctT>ctA	p.L216L		NM_012131.2	NP_036263.1	P56750	CLD17_HUMAN	claudin 17	216					calcium-independent cell-cell adhesion (GO:0016338)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|tight junction assembly (GO:0070830)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	identical protein binding (GO:0042802)|structural molecule activity (GO:0005198)	p.L216L(1)		NS(1)|breast(1)|endometrium(2)|large_intestine(6)|lung(9)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	23						AGGTCTTACTAAGCATTGTCG	0.433																																						uc011acv.1																			1	Substitution - coding silent(1)		lung(1)	ovary(2)	2						c.(646-648)CTT>CTA		claudin 17							248.0	238.0	242.0					21																	31538288		2203	4300	6503	SO:0001819	synonymous_variant	26285				calcium-independent cell-cell adhesion|tight junction assembly	Golgi apparatus|integral to membrane|tight junction	identical protein binding|structural molecule activity	g.chr21:31538288A>T	AJ250712	CCDS13586.1	21q22.1	2008-07-31			ENSG00000156282	ENSG00000156282		"""Claudins"""	2038	protein-coding gene	gene with protein product						12736707	Standard	NM_012131		Approved	MGC126552, MGC126554	uc011acv.2	P56750	OTTHUMG00000081873	ENST00000286808.3:c.648T>A	21.37:g.31538288A>T							p.L216L	NM_012131	NP_036263	P56750	CLD17_HUMAN			1	648	-			216			Cytoplasmic (Potential).		Q3MJB5|Q6UY37	Silent	SNP	ENST00000286808.3	37	c.648T>A	CCDS13586.1																																																																																				PASS	0.433	CLDN17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000182261.1	NM_012131		50	130	50	130	---	---	---	---
KRTAP13-1	140258	broad.mit.edu	37	21	31768854	31768854	+	Silent	SNP	C	C	T	rs371629382		TCGA-66-2756-01A-01D-1522-08	TCGA-66-2756-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	472c95e6-eccb-4988-be16-fdace73b2ed8	ff4f5936-f847-42ad-aedf-6a6a7fff6002	g.chr21:31768854C>T	ENST00000355459.2	+	1	463	c.450C>T	c.(448-450)acC>acT	p.T150T		NM_181599.2	NP_853630.2	Q8IUC0	KR131_HUMAN	keratin associated protein 13-1	150						intermediate filament (GO:0005882)		p.T150T(1)		endometrium(1)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						GCCGCCCAACCTACTTGGCTT	0.517																																						uc002yoa.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(448-450)ACC>ACT		keratin associated protein 13-1							54.0	51.0	52.0					21																	31768854		2203	4300	6503	SO:0001819	synonymous_variant	140258					intermediate filament		g.chr21:31768854C>T	AJ457066	CCDS13590.2	21q22.11	2013-06-20			ENSG00000198390	ENSG00000198390		"""Keratin associated proteins"""	18924	protein-coding gene	gene with protein product		608718				12359730	Standard	NM_181599		Approved	KAP13.1	uc002yoa.3	Q8IUC0	OTTHUMG00000057800	ENST00000355459.2:c.450C>T	21.37:g.31768854C>T							p.T150T	NM_181599	NP_853630	Q8IUC0	KR131_HUMAN			1	463	+			150					Q14D20|Q3LI79	Silent	SNP	ENST00000355459.2	37	c.450C>T	CCDS13590.2																																																																																				PASS	0.517	KRTAP13-1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128252.3			15	34	15	34	---	---	---	---
KRTAP19-5	337972	broad.mit.edu	37	21	31874249	31874250	+	Nonsense_Mutation	DNP	CA	CA	AT			TCGA-66-2756-01A-01D-1522-08	TCGA-66-2756-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	472c95e6-eccb-4988-be16-fdace73b2ed8	ff4f5936-f847-42ad-aedf-6a6a7fff6002	g.chr21:31874249_31874250CA>AT	ENST00000334151.2	-	1	185_186	c.159_160TG>AT	c.(157-162)taTGga>taATga	p.53_54YG>**		NM_181611.1	NP_853642.1	Q3LI72	KR195_HUMAN	keratin associated protein 19-5	53						intermediate filament (GO:0005882)		p.Y53*(1)|p.G54*(1)|p.Y53_G54>*(1)		endometrium(1)|large_intestine(5)|lung(4)|pancreas(1)|prostate(1)	12						CTGCGGTATCCATAGCCTCCGA	0.535																																						uc011ada.1																			3	Substitution - Nonsense(2)|Complex - deletion inframe(1)		lung(3)		0						c.(160-162)GGA>TGA|c.(157-159)TAT>TAA		keratin associated protein 19-5																																				SO:0001587	stop_gained	337972					intermediate filament	protein binding	g.chr21:31874249C>A|g.chr21:31874250A>T	AP001708	CCDS13597.1	21q22.1	2006-03-13			ENSG00000186977	ENSG00000186977		"""Keratin associated proteins"""	18940	protein-coding gene	gene with protein product						12359730	Standard	NM_181611		Approved	KAP19.5	uc011ada.2	Q3LI72	OTTHUMG00000057774	ENST00000334151.2:c.159_160delinsAT	21.37:g.31874249_31874250delinsAT	ENSP00000334985:p.Y53_G54delins**						p.G54*|p.Y53*	NM_181611	NP_853642	Q3LI72	KR195_HUMAN			1	160|159	-			54|53					A4IF22	Nonsense_Mutation	SNP	ENST00000334151.2	37	c.160G>T|c.159T>A	CCDS13597.1																																																																																				PASS	0.535	KRTAP19-5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128226.2			64	78|80	64	78	---	---	---	---
RIPK4	54101	broad.mit.edu	37	21	43161307	43161307	+	Silent	SNP	G	G	A			TCGA-66-2756-01A-01D-1522-08	TCGA-66-2756-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	472c95e6-eccb-4988-be16-fdace73b2ed8	ff4f5936-f847-42ad-aedf-6a6a7fff6002	g.chr21:43161307G>A	ENST00000352483.2	-	9	2254	c.2190C>T	c.(2188-2190)caC>caT	p.H730H	RIPK4_ENST00000542057.1_Silent_p.H619H|AP001615.9_ENST00000423276.1_RNA|RIPK4_ENST00000332512.3_Silent_p.H682H|RIPK4_ENST00000544709.1_Silent_p.H619H			P57078	RIPK4_HUMAN	receptor-interacting serine-threonine kinase 4	730					morphogenesis of an epithelium (GO:0002009)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)	p.H682H(1)|p.H730H(1)		NS(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						CAGTGGCCAGGTGTCCGTTGC	0.682																																						uc002yzn.1																			2	Substitution - coding silent(2)		lung(2)	ovary(2)|central_nervous_system(2)|large_intestine(1)|lung(1)|skin(1)	7						c.(2044-2046)CAC>CAT		ankyrin repeat domain 3							60.0	65.0	63.0					21																	43161307		2203	4299	6502	SO:0001819	synonymous_variant	54101					cytoplasm|nucleus	ATP binding|protein serine/threonine kinase activity	g.chr21:43161307G>A	AJ278016	CCDS13675.1	21q22.3	2013-01-10	2004-07-06	2004-07-06	ENSG00000183421	ENSG00000183421		"""Ankyrin repeat domain containing"""	496	protein-coding gene	gene with protein product	"""protein kinase C-associated kinase"", ""PKC-delta-interacting protein kinase"""	605706	"""ankyrin repeat domain 3"""	ANKRD3		10830953	Standard	NM_020639		Approved	DIK, ANKK2, RIP4, PKK	uc002yzn.1	P57078	OTTHUMG00000086770	ENST00000352483.2:c.2190C>T	21.37:g.43161307G>A							p.H682H	NM_020639	NP_065690	P57078	RIPK4_HUMAN			8	2094	-			682					Q96KH0	Silent	SNP	ENST00000352483.2	37	c.2046C>T																																																																																					PASS	0.682	RIPK4-201	KNOWN	basic	protein_coding	protein_coding		NM_020639		40	118	40	118	---	---	---	---
TSPEAR	54084	broad.mit.edu	37	21	45987776	45987776	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2756-01A-01D-1522-08	TCGA-66-2756-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	472c95e6-eccb-4988-be16-fdace73b2ed8	ff4f5936-f847-42ad-aedf-6a6a7fff6002	g.chr21:45987776G>T	ENST00000323084.4	-	2	261	c.196C>A	c.(196-198)Ccc>Acc	p.P66T	TSPEAR_ENST00000397916.1_5'UTR	NM_001272037.1|NM_144991.2	NP_001258966.1|NP_659428.2	Q8WU66	TSEAR_HUMAN	thrombospondin-type laminin G domain and EAR repeats	66	Laminin G-like.				sensory perception of sound (GO:0007605)	cell surface (GO:0009986)|ciliary membrane (GO:0060170)|extracellular region (GO:0005576)|stereocilium (GO:0032420)		p.P66T(1)		breast(1)|central_nervous_system(6)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)	37						ATGGTGCGGGGGGCGGCTACT	0.562																																						uc002zfe.1																			1	Substitution - Missense(1)		lung(1)		0						c.(196-198)CCC>ACC		chromosome 21 open reading frame 29 precursor							66.0	66.0	66.0					21																	45987776		2203	4300	6503	SO:0001583	missense	54084				cell adhesion	extracellular region	structural molecule activity	g.chr21:45987776G>T	AJ487962	CCDS13712.1, CCDS74801.1	21q22.3	2012-10-30	2011-01-25	2011-01-25	ENSG00000175894	ENSG00000175894			1268	protein-coding gene	gene with protein product		612920	"""chromosome 21 open reading frame 29"", ""deafness, autosomal recessive 98"""	C21orf29, DFNB98		12095917, 22678063	Standard	NM_144991		Approved	MGC11251, TSP-EAR	uc002zfe.1	Q8WU66	OTTHUMG00000041215	ENST00000323084.4:c.196C>A	21.37:g.45987776G>T	ENSP00000321987:p.Pro66Thr					C21orf29_uc010gpv.1_5'UTR	p.P66T	NM_144991	NP_659428	Q8WU66	TSEAR_HUMAN			2	262	-			66						Missense_Mutation	SNP	ENST00000323084.4	37	c.196C>A	CCDS13712.1	.	.	.	.	.	.	.	.	.	.	g	2.286	-0.363598	0.05103	.	.	ENSG00000175894	ENST00000323084;ENST00000397918;ENST00000341581	T	0.40756	1.02	4.68	3.75	0.43078	Concanavalin A-like lectin/glucanase (1);Laminin G, thrombospondin-type, N-terminal (1);	0.586689	0.17863	N	0.159456	T	0.29288	0.0729	N	0.25201	0.72	0.80722	D	1	B	0.19073	0.033	B	0.22753	0.041	T	0.06972	-1.0797	10	0.23302	T	0.38	-0.5901	13.0155	0.58754	0.0:0.0:0.838:0.162	.	66	Q8WU66	TSEAR_HUMAN	T	66	ENSP00000321987:P66T	ENSP00000321987:P66T	P	-	1	0	TSPEAR	44812204	0.998000	0.40836	0.317000	0.25265	0.035000	0.12851	3.026000	0.49689	2.140000	0.66376	0.591000	0.81541	CCC		PASS	0.562	TSPEAR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098761.1	NM_144991		46	63	46	63	---	---	---	---
MCM3AP	8888	broad.mit.edu	37	21	47676828	47676828	+	Nonsense_Mutation	SNP	G	G	T			TCGA-66-2756-01A-01D-1522-08	TCGA-66-2756-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	472c95e6-eccb-4988-be16-fdace73b2ed8	ff4f5936-f847-42ad-aedf-6a6a7fff6002	g.chr21:47676828G>T	ENST00000397708.1	-	18	4061	c.3807C>A	c.(3805-3807)tgC>tgA	p.C1269*	AP001469.9_ENST00000430259.1_RNA|MCM3AP_ENST00000467026.1_5'UTR|MCM3AP_ENST00000291688.1_Nonsense_Mutation_p.C1269*|MCM3AP-AS1_ENST00000590829.1_RNA			O60318	GANP_HUMAN	minichromosome maintenance complex component 3 associated protein	1269					DNA replication (GO:0006260)|immune system process (GO:0002376)|mRNA transport (GO:0051028)|protein import into nucleus (GO:0006606)	cytosol (GO:0005829)|nuclear pore (GO:0005643)|nucleus (GO:0005634)	DNA binding (GO:0003677)|transferase activity, transferring acyl groups (GO:0016746)	p.C1269*(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(10)|kidney(5)|large_intestine(17)|lung(24)|ovary(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	72	Breast(49;0.112)					TCACGTCCACGCAGCAGGGCG	0.642																																						uc002zir.1																			1	Substitution - Nonsense(1)		lung(1)	large_intestine(2)|lung(1)|ovary(1)|skin(1)	5						c.(3805-3807)TGC>TGA		minichromosome maintenance complex component 3							16.0	18.0	18.0					21																	47676828		2201	4300	6501	SO:0001587	stop_gained	8888				DNA replication|protein import into nucleus	cytosol|nucleus	DNA binding|nucleotide binding	g.chr21:47676828G>T	AB005543	CCDS13734.1	21q22.3	2012-12-19	2007-04-04		ENSG00000160294	ENSG00000160294			6946	protein-coding gene	gene with protein product	"""germinal-centre associated nuclear protein"""	603294	"""minichromosome maintenance deficient (S. cerevisiae) 3-associated protein"", ""MCM3 minichromosome maintenance deficient 3 (S. cerevisiae) associated protein"""			9712829, 16914116, 21195085	Standard	XM_005261205		Approved	Map80, KIAA0572, GANP, SAC3	uc002zir.1	O60318	OTTHUMG00000090630	ENST00000397708.1:c.3807C>A	21.37:g.47676828G>T	ENSP00000380820:p.Cys1269*					MCM3AP_uc002zip.1_Nonsense_Mutation_p.C10*|MCM3AP_uc002ziq.1_Nonsense_Mutation_p.C196*	p.C1269*	NM_003906	NP_003897	O60318	MCM3A_HUMAN			17	3843	-	Breast(49;0.112)		1269					C9JL56|Q2M3C1|Q6PJP6|Q9BSY5|Q9UMT4	Nonsense_Mutation	SNP	ENST00000397708.1	37	c.3807C>A	CCDS13734.1	.	.	.	.	.	.	.	.	.	.	G	42	9.305575	0.99132	.	.	ENSG00000160294	ENST00000397708;ENST00000291688	.	.	.	5.44	3.13	0.36017	.	0.133576	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-3.031	8.3769	0.32449	0.7186:0.0:0.2814:0.0	.	.	.	.	X	1269	.	ENSP00000291688:C1269X	C	-	3	2	MCM3AP	46501256	0.814000	0.29104	1.000000	0.80357	0.795000	0.44927	0.060000	0.14342	0.922000	0.37019	-0.302000	0.09304	TGC		PASS	0.642	MCM3AP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207254.1	NM_003906		11	15	11	15	---	---	---	---
CDC45	8318	broad.mit.edu	37	22	19483537	19483537	+	Silent	SNP	A	A	G			TCGA-66-2756-01A-01D-1522-08	TCGA-66-2756-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	472c95e6-eccb-4988-be16-fdace73b2ed8	ff4f5936-f847-42ad-aedf-6a6a7fff6002	g.chr22:19483537A>G	ENST00000407835.1	+	8	832	c.576A>G	c.(574-576)gaA>gaG	p.E192E	CDC45_ENST00000263201.1_Silent_p.E192E|CDC45_ENST00000404724.3_Silent_p.E146E|CDC45_ENST00000437685.2_Silent_p.E224E			O75419	CDC45_HUMAN	cell division cycle 45	192					DNA replication (GO:0006260)|DNA replication checkpoint (GO:0000076)|DNA replication initiation (GO:0006270)|DNA strand elongation involved in DNA replication (GO:0006271)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)		p.E192E(1)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|prostate(2)|skin(1)	19						AGCAGTATGAATATCATGGGA	0.393																																						uc002zpr.2																			1	Substitution - coding silent(1)		lung(1)	lung(1)	1						c.(574-576)GAA>GAG		CDC45-like							202.0	195.0	197.0					22																	19483537		2203	4300	6503	SO:0001819	synonymous_variant	8318				DNA replication checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|M/G1 transition of mitotic cell cycle|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle	centrosome|nucleoplasm	protein binding	g.chr22:19483537A>G	AF053074	CCDS13762.1, CCDS54499.1, CCDS54500.1	22q11.21	2013-01-17	2013-01-17	2010-03-24	ENSG00000093009	ENSG00000093009			1739	protein-coding gene	gene with protein product	"""human CDC45"""	603465	"""CDC45 (cell division cycle 45, S.cerevisiae, homolog)-like"", ""CDC45 cell division cycle 45-like (S. cerevisiae)"", ""cell division cycle 45 homolog (S. cerevisiae)"""	CDC45L2, CDC45L		9660782, 9724329, 17608804	Standard	NM_001178010		Approved		uc011aha.2	O75419	OTTHUMG00000150386	ENST00000407835.1:c.576A>G	22.37:g.19483537A>G						CDC45_uc011agz.1_Silent_p.E187E|CDC45_uc011aha.1_Silent_p.E224E|CDC45_uc002zps.2_Silent_p.E192E|CDC45_uc002zpt.2_Silent_p.E146E	p.E192E	NM_003504	NP_003495	O75419	CDC45_HUMAN			7	652	+			192					B4DDB4|B4DDU3|E9PDH7|O60856|Q20WK8|Q6UW54|Q9UP68	Silent	SNP	ENST00000407835.1	37	c.576A>G	CCDS13762.1																																																																																				PASS	0.393	CDC45-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000317903.1	NM_003504		450	126	450	126	---	---	---	---
GGT1	2678	broad.mit.edu	37	22	25010801	25010801	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2756-01A-01D-1522-08	TCGA-66-2756-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	472c95e6-eccb-4988-be16-fdace73b2ed8	ff4f5936-f847-42ad-aedf-6a6a7fff6002	g.chr22:25010801G>T	ENST00000400382.1	+	6	978	c.223G>T	c.(223-225)Gtg>Ttg	p.V75L	GGT1_ENST00000400380.1_Missense_Mutation_p.V75L|GGT1_ENST00000248923.4_Missense_Mutation_p.V75L|GGT1_ENST00000406383.2_Missense_Mutation_p.V75L|GGT1_ENST00000400383.1_Missense_Mutation_p.V75L			P19440	GGT1_HUMAN	gamma-glutamyltransferase 1	75					arachidonic acid metabolic process (GO:0019369)|cellular amino acid metabolic process (GO:0006520)|cysteine biosynthetic process (GO:0019344)|glutamate metabolic process (GO:0006536)|glutathione biosynthetic process (GO:0006750)|glutathione catabolic process (GO:0006751)|glutathione derivative biosynthetic process (GO:1901687)|glutathione metabolic process (GO:0006749)|leukotriene biosynthetic process (GO:0019370)|leukotriene metabolic process (GO:0006691)|regulation of immune system process (GO:0002682)|regulation of inflammatory response (GO:0050727)|small molecule metabolic process (GO:0044281)|spermatogenesis (GO:0007283)|xenobiotic metabolic process (GO:0006805)|zymogen activation (GO:0031638)	anchored component of external side of plasma membrane (GO:0031362)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	gamma-glutamyltransferase activity (GO:0003840)|glutathione hydrolase activity (GO:0036374)	p.V75L(1)		breast(1)|endometrium(2)|kidney(14)|large_intestine(2)|lung(6)|pancreas(1)|prostate(6)|skin(7)|upper_aerodigestive_tract(1)	40					Glutathione(DB00143)	CCTGTTGTGTGTGGGGCTCAT	0.607																																						uc003aan.1																			1	Substitution - Missense(1)		lung(1)		0						c.(223-225)GTG>TTG		gamma-glutamyltransferase 1 precursor	Glutathione(DB00143)						35.0	38.0	37.0					22																	25010801		2029	4168	6197	SO:0001583	missense	2678				glutathione biosynthetic process	integral to membrane	acyltransferase activity|gamma-glutamyltransferase activity|protein binding	g.chr22:25010801G>T	M24903	CCDS42992.1	22q11.23	2008-08-15			ENSG00000100031	ENSG00000100031	2.3.2.2	"""CD molecules"", ""Gamma-glutamyltransferases"""	4250	protein-coding gene	gene with protein product		612346		GGT		8104871, 18357469	Standard	NM_001288833		Approved	D22S672, D22S732, CD224	uc003aan.1	P19440	OTTHUMG00000030859	ENST00000400382.1:c.223G>T	22.37:g.25010801G>T	ENSP00000383232:p.Val75Leu					GGT1_uc003aas.1_Missense_Mutation_p.V75L|GGT1_uc003aat.1_Missense_Mutation_p.V75L|GGT1_uc003aau.1_Missense_Mutation_p.V75L|GGT1_uc003aav.1_Missense_Mutation_p.V75L|GGT1_uc003aaw.1_Missense_Mutation_p.V75L|GGT1_uc003aax.1_Missense_Mutation_p.V75L	p.V75L	NM_013430	NP_038347	P19440	GGT1_HUMAN			6	710	+			75			Extracellular (Potential).		Q08247|Q14404|Q8TBS1|Q9UMK1	Missense_Mutation	SNP	ENST00000400382.1	37	c.223G>T	CCDS42992.1	.	.	.	.	.	.	.	.	.	.	.	6.422	0.445932	0.12164	.	.	ENSG00000100031	ENST00000248923;ENST00000411974;ENST00000412658;ENST00000419133;ENST00000400382;ENST00000452551;ENST00000400383;ENST00000412898;ENST00000400380;ENST00000455483;ENST00000430289;ENST00000447416;ENST00000432867;ENST00000451366;ENST00000406383;ENST00000428855	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.03951	3.75;3.75;3.75;3.75;3.75;3.75;3.75;3.75;3.75;3.75;3.75;3.75;3.75;3.75;3.75;3.75	3.89	-3.71	0.04424	.	0.436736	0.21728	N	0.070012	T	0.01940	0.0061	N	0.12746	0.255	0.30366	N	0.783316	B	0.02656	0.0	B	0.09377	0.004	T	0.44922	-0.9296	10	0.13853	T	0.58	-1.9325	5.1474	0.14993	0.3699:0.0:0.4996:0.1304	.	75	P19440	GGT1_HUMAN	L	75	ENSP00000248923:V75L;ENSP00000389935:V75L;ENSP00000393537:V75L;ENSP00000395271:V75L;ENSP00000383232:V75L;ENSP00000415553:V75L;ENSP00000383233:V75L;ENSP00000408151:V75L;ENSP00000383231:V75L;ENSP00000415024:V75L;ENSP00000417044:V75L;ENSP00000400621:V75L;ENSP00000398589:V75L;ENSP00000387796:V75L;ENSP00000385975:V75L;ENSP00000415068:V75L	ENSP00000248923:V75L	V	+	1	0	GGT1	23340801	0.000000	0.05858	0.190000	0.23270	0.089000	0.18198	0.446000	0.21694	-0.767000	0.04633	-1.220000	0.01600	GTG		PASS	0.607	GGT1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250797.1	NM_013430		44	25	44	25	---	---	---	---
MYO18B	84700	broad.mit.edu	37	22	26342180	26342180	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2756-01A-01D-1522-08	TCGA-66-2756-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	472c95e6-eccb-4988-be16-fdace73b2ed8	ff4f5936-f847-42ad-aedf-6a6a7fff6002	g.chr22:26342180C>G	ENST00000407587.2	+	35	5767	c.5598C>G	c.(5596-5598)caC>caG	p.H1866Q	MYO18B_ENST00000536101.1_Missense_Mutation_p.H1865Q|MYO18B_ENST00000335473.7_Missense_Mutation_p.H1865Q			Q8IUG5	MY18B_HUMAN	myosin XVIIIB	1865	Tail.					cytoplasm (GO:0005737)|nucleus (GO:0005634)|unconventional myosin complex (GO:0016461)	ATP binding (GO:0005524)|motor activity (GO:0003774)	p.H1866Q(1)		NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						AGAGCATGCACAGCGAGCTGG	0.607																																						uc003abz.1																			1	Substitution - Missense(1)		lung(1)	ovary(5)|central_nervous_system(3)|large_intestine(2)|breast(2)	12						c.(5593-5595)CAC>CAG		myosin XVIIIB							47.0	56.0	53.0					22																	26342180		2111	4229	6340	SO:0001583	missense	84700					nucleus|sarcomere|unconventional myosin complex	actin binding|ATP binding|motor activity	g.chr22:26342180C>G	AJ310931	CCDS54507.1	22q12.1	2011-09-27			ENSG00000133454	ENSG00000133454		"""Myosins / Myosin superfamily : Class XVIII"""	18150	protein-coding gene	gene with protein product		607295				12209013, 12547197	Standard	NM_032608		Approved	BK125H2.1	uc003abz.1	Q8IUG5	OTTHUMG00000151129	ENST00000407587.2:c.5598C>G	22.37:g.26342180C>G	ENSP00000386096:p.His1866Gln					MYO18B_uc003aca.1_Missense_Mutation_p.H1746Q|MYO18B_uc010guy.1_Missense_Mutation_p.H1747Q|MYO18B_uc010guz.1_Missense_Mutation_p.H1745Q|MYO18B_uc011aka.1_Missense_Mutation_p.H1019Q|MYO18B_uc011akb.1_Missense_Mutation_p.H1378Q	p.H1865Q	NM_032608	NP_115997	Q8IUG5	MY18B_HUMAN			35	5845	+			1865			Tail.|Potential.		B2RWP3|F5GYU7|Q8NDI8|Q8TE65|Q8WWS0|Q96KH2|Q96KR8|Q96KR9	Missense_Mutation	SNP	ENST00000407587.2	37	c.5595C>G		.	.	.	.	.	.	.	.	.	.	c	12.16	1.853412	0.32791	.	.	ENSG00000133454	ENST00000536101;ENST00000335473;ENST00000407587	D;D;D	0.85171	-1.94;-1.94;-1.95	4.92	2.8	0.32819	.	0.071033	0.64402	D	0.000020	D	0.84840	0.5561	L	0.41573	1.285	0.29969	N	0.818726	P;P;D;P	0.71674	0.639;0.675;0.998;0.782	B;B;D;B	0.69142	0.28;0.241;0.962;0.421	T	0.77088	-0.2717	10	0.10902	T	0.67	.	9.1491	0.36951	0.0:0.8262:0.0:0.1738	.	1378;1865;1866;1865	Q8IUG5-2;Q8IUG5;F5GXR6;F5GYU7	.;MY18B_HUMAN;.;.	Q	1865;1865;1866	ENSP00000441229:H1865Q;ENSP00000334563:H1865Q;ENSP00000386096:H1866Q	ENSP00000334563:H1865Q	H	+	3	2	MYO18B	24672180	0.661000	0.27430	1.000000	0.80357	0.864000	0.49448	0.462000	0.21956	1.077000	0.40990	0.598000	0.82781	CAC		PASS	0.607	MYO18B-006	NOVEL	non_canonical_conserved|basic|appris_candidate_longest|exp_conf	protein_coding	protein_coding	OTTHUMT00000400691.1	NM_032608		2	4	2	4	---	---	---	---
CRYBA4	1413	broad.mit.edu	37	22	27024391	27024391	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2756-01A-01D-1522-08	TCGA-66-2756-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	472c95e6-eccb-4988-be16-fdace73b2ed8	ff4f5936-f847-42ad-aedf-6a6a7fff6002	g.chr22:27024391G>T	ENST00000354760.3	+	5	475	c.440G>T	c.(439-441)gGg>gTg	p.G147V	CRYBA4_ENST00000466315.1_3'UTR	NM_001886.2	NP_001877.1	P53673	CRBA4_HUMAN	crystallin, beta A4	147	Beta/gamma crystallin 'Greek key' 4. {ECO:0000255|PROSITE-ProRule:PRU00028}.				camera-type eye development (GO:0043010)|visual perception (GO:0007601)		structural constituent of eye lens (GO:0005212)	p.G147V(1)		large_intestine(6)|liver(1)|lung(6)|skin(3)|urinary_tract(2)	18						GTCCACTCTGGGGCGTAAGTG	0.557																																						uc003acz.3																			1	Substitution - Missense(1)		lung(1)		0						c.(439-441)GGG>GTG		crystallin, beta A4							113.0	93.0	100.0					22																	27024391		2203	4300	6503	SO:0001583	missense	1413				camera-type eye development|visual perception	soluble fraction	structural constituent of eye lens	g.chr22:27024391G>T		CCDS13841.1	22q12.1	2008-06-10			ENSG00000196431	ENSG00000196431			2396	protein-coding gene	gene with protein product		123631				8999933, 960806	Standard	NM_001886		Approved		uc003acz.4	P53673	OTTHUMG00000150983	ENST00000354760.3:c.440G>T	22.37:g.27024391G>T	ENSP00000346805:p.Gly147Val						p.G147V	NM_001886	NP_001877	P53673	CRBA4_HUMAN			5	475	+			147			Beta/gamma crystallin 'Greek key' 4.		Q4VB22|Q6ICE4	Missense_Mutation	SNP	ENST00000354760.3	37	c.440G>T	CCDS13841.1	.	.	.	.	.	.	.	.	.	.	G	22.2	4.262418	0.80358	.	.	ENSG00000196431	ENST00000354760	D	0.93247	-3.19	4.3	4.3	0.51218	Beta/gamma crystallin (4);Gamma-crystallin-related (1);	0.000000	0.85682	D	0.000000	D	0.98157	0.9391	H	0.99273	4.495	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99032	1.0821	10	0.87932	D	0	.	14.3103	0.66413	0.0:0.0:1.0:0.0	.	147	P53673	CRBA4_HUMAN	V	147	ENSP00000346805:G147V	ENSP00000346805:G147V	G	+	2	0	CRYBA4	25354391	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	8.268000	0.89876	2.242000	0.73789	0.655000	0.94253	GGG		PASS	0.557	CRYBA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320793.1	NM_001886		34	45	34	45	---	---	---	---
EMID1	129080	broad.mit.edu	37	22	29628307	29628307	+	Nonsense_Mutation	SNP	G	G	T	rs373030911		TCGA-66-2756-01A-01D-1522-08	TCGA-66-2756-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	472c95e6-eccb-4988-be16-fdace73b2ed8	ff4f5936-f847-42ad-aedf-6a6a7fff6002	g.chr22:29628307G>T	ENST00000404820.3	+	8	866	c.739G>T	c.(739-741)Gga>Tga	p.G247*	EMID1_ENST00000484039.1_3'UTR|EMID1_ENST00000334018.6_Nonsense_Mutation_p.G247*|EMID1_ENST00000404755.3_Nonsense_Mutation_p.G247*			Q96A84	EMID1_HUMAN	EMI domain containing 1	245	Collagen-like.					collagen trimer (GO:0005581)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|proteinaceous extracellular matrix (GO:0005578)		p.G247*(1)		NS(1)|endometrium(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(2)|skin(3)	12						TGGAGAGAGGGGACCTCCTGG	0.697																																						uc003aen.2																			1	Substitution - Nonsense(1)		lung(1)		0						c.(733-735)GGA>TGA		EMI domain containing 1							13.0	17.0	16.0					22																	29628307		2189	4260	6449	SO:0001587	stop_gained	129080					collagen		g.chr22:29628307G>T	AJ416090	CCDS33630.1	22q12.2	2009-08-04			ENSG00000186998	ENSG00000186998		"""EMI domain containing"""	18036	protein-coding gene	gene with protein product	"""emilin and multimerin-domain containing protein 1"", ""putative emu1"""	608926				12221002	Standard	NM_001267895		Approved	EMU1, hEmu1, EMI5	uc003aem.4	Q96A84	OTTHUMG00000151013	ENST00000404820.3:c.739G>T	22.37:g.29628307G>T	ENSP00000384452:p.Gly247*					EMID1_uc003aem.2_Nonsense_Mutation_p.G247*|EMID1_uc003aeo.2_Nonsense_Mutation_p.G247*|EMID1_uc003aep.2_Nonsense_Mutation_p.G247*	p.G245*	NM_133455	NP_597712	Q96A84	EMID1_HUMAN			8	808	+			245			Collagen-like.		B0QYK6|Q6ICG1|Q86SS7	Nonsense_Mutation	SNP	ENST00000404820.3	37	c.733G>T		.	.	.	.	.	.	.	.	.	.	G	37	6.062968	0.97246	.	.	ENSG00000186998	ENST00000334018;ENST00000404755;ENST00000404820	.	.	.	4.12	4.12	0.48240	.	0.319883	0.22500	N	0.059245	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-7.3133	12.5648	0.56304	0.0:0.0:1.0:0.0	.	.	.	.	X	247	.	ENSP00000335481:G247X	G	+	1	0	EMID1	27958307	1.000000	0.71417	1.000000	0.80357	0.938000	0.57974	6.027000	0.70881	2.249000	0.74217	0.555000	0.69702	GGA		PASS	0.697	EMID1-002	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000321075.1	NM_133455		24	18	24	18	---	---	---	---
THOC5	8563	broad.mit.edu	37	22	29917005	29917005	+	Missense_Mutation	SNP	T	T	G			TCGA-66-2756-01A-01D-1522-08	TCGA-66-2756-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	472c95e6-eccb-4988-be16-fdace73b2ed8	ff4f5936-f847-42ad-aedf-6a6a7fff6002	g.chr22:29917005T>G	ENST00000490103.1	-	13	1381	c.1259A>C	c.(1258-1260)tAt>tCt	p.Y420S	THOC5_ENST00000397872.1_Missense_Mutation_p.Y420S|THOC5_ENST00000397873.2_Missense_Mutation_p.Y420S|CTA-256D12.11_ENST00000411969.1_RNA|THOC5_ENST00000397871.1_Missense_Mutation_p.Y420S	NM_003678.4	NP_003669.4	Q13769	THOC5_HUMAN	THO complex 5	420					blastocyst development (GO:0001824)|cell morphogenesis (GO:0000902)|monocyte differentiation (GO:0030224)|mRNA export from nucleus (GO:0006406)|mRNA processing (GO:0006397)|negative regulation of DNA damage checkpoint (GO:2000002)|negative regulation of macrophage differentiation (GO:0045650)|positive regulation of DNA-templated transcription, elongation (GO:0032786)|primitive hemopoiesis (GO:0060215)|regulation of mRNA export from nucleus (GO:0010793)|regulation of stem cell division (GO:2000035)|RNA splicing (GO:0008380)|stem cell division (GO:0017145)|viral mRNA export from host cell nucleus (GO:0046784)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|THO complex (GO:0000347)|THO complex part of transcription export complex (GO:0000445)|transcription export complex (GO:0000346)	mRNA binding (GO:0003729)	p.Y420S(1)		NS(1)|breast(4)|cervix(1)|endometrium(2)|large_intestine(4)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						ATCAAACTGATACTGATTGGC	0.458																																						uc003afr.2																			1	Substitution - Missense(1)		lung(1)	breast(3)	3						c.(1258-1260)TAT>TCT		THO complex 5							163.0	172.0	169.0					22																	29917005		2203	4300	6503	SO:0001583	missense	8563				intronless viral mRNA export from host nucleus|monocyte differentiation|mRNA processing|primitive hemopoiesis|RNA splicing	cytoplasm|intermediate filament cytoskeleton|THO complex part of transcription export complex	protein binding|RNA binding	g.chr22:29917005T>G	AB023200	CCDS13859.1	22q12	2013-02-11			ENSG00000100296	ENSG00000100296		"""THO complex subunits"""	19074	protein-coding gene	gene with protein product	"""functional spliceosome-associated protein 79"""	612733	"""chromosome 22 open reading frame 19"""	C22orf19		11979277, 8242058, 10231032, 19015024, 18373705	Standard	NM_003678		Approved	PK1.3, KIAA0983, Fmip, fSAP79	uc003afs.3	Q13769	OTTHUMG00000151291	ENST00000490103.1:c.1259A>C	22.37:g.29917005T>G	ENSP00000420306:p.Tyr420Ser					THOC5_uc003afq.2_Missense_Mutation_p.Y81S|THOC5_uc003afs.2_Missense_Mutation_p.Y420S|THOC5_uc003aft.2_Missense_Mutation_p.Y420S|THOC5_uc003afu.2_Missense_Mutation_p.Y420S|THOC5_uc010gvo.2_Missense_Mutation_p.Y164S	p.Y420S	NM_001002878	NP_001002878	Q13769	THOC5_HUMAN			14	1594	-			420					O60839|Q9UPZ5	Missense_Mutation	SNP	ENST00000490103.1	37	c.1259A>C	CCDS13859.1	.	.	.	.	.	.	.	.	.	.	T	22.6	4.305537	0.81247	.	.	ENSG00000100296	ENST00000490103;ENST00000397872;ENST00000397871;ENST00000397873	T;T;T;T	0.26518	1.73;1.73;1.73;1.73	5.82	5.82	0.92795	.	0.051720	0.85682	D	0.000000	T	0.40979	0.1139	M	0.69823	2.125	0.80722	D	1	P	0.51933	0.949	P	0.54815	0.761	T	0.22941	-1.0202	10	0.38643	T	0.18	-22.3736	10.8546	0.46792	0.1757:0.0:0.0:0.8243	.	420	Q13769	THOC5_HUMAN	S	420	ENSP00000420306:Y420S;ENSP00000380970:Y420S;ENSP00000380969:Y420S;ENSP00000380971:Y420S	ENSP00000380969:Y420S	Y	-	2	0	THOC5	28247005	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.939000	0.70179	2.222000	0.72286	0.533000	0.62120	TAT		PASS	0.458	THOC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322097.1	NM_003678		52	178	52	178	---	---	---	---
ISX	91464	broad.mit.edu	37	22	35478551	35478551	+	Silent	SNP	C	C	A			TCGA-66-2756-01A-01D-1522-08	TCGA-66-2756-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	472c95e6-eccb-4988-be16-fdace73b2ed8	ff4f5936-f847-42ad-aedf-6a6a7fff6002	g.chr22:35478551C>A	ENST00000308700.6	+	2	1222	c.270C>A	c.(268-270)acC>acA	p.T90T	ISX_ENST00000404699.2_Silent_p.T90T	NM_001008494.1	NP_001008494.1	Q2M1V0	ISX_HUMAN	intestine-specific homeobox	90					regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of vitamin A metabolic process (GO:1901738)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)	p.T90T(1)		breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(12)|ovary(3)|prostate(1)|skin(4)	26						CCACCTTCACCACTGAGCAGC	0.567																																						uc003anj.2																			1	Substitution - coding silent(1)		lung(1)	ovary(3)|skin(2)	5						c.(268-270)ACC>ACA		intestine-specific homeobox							156.0	124.0	135.0					22																	35478551		2203	4300	6503	SO:0001819	synonymous_variant	91464					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr22:35478551C>A	AK025181	CCDS33640.1	22q12.3	2011-06-20			ENSG00000175329	ENSG00000175329		"""Homeoboxes / PRD class"""	28084	protein-coding gene	gene with protein product		612019					Standard	NM_001008494		Approved	RAXLX	uc003anj.3	Q2M1V0	OTTHUMG00000150962	ENST00000308700.6:c.270C>A	22.37:g.35478551C>A						ISX_uc011amg.1_Silent_p.T78T	p.T90T	NM_001008494	NP_001008494	Q2M1V0	ISX_HUMAN			2	1221	+			90			Homeobox.		Q68DJ5	Silent	SNP	ENST00000308700.6	37	c.270C>A	CCDS33640.1																																																																																				PASS	0.567	ISX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320662.1	NM_001008494		18	98	18	98	---	---	---	---
CACNA1I	8911	broad.mit.edu	37	22	40080410	40080410	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2756-01A-01D-1522-08	TCGA-66-2756-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	472c95e6-eccb-4988-be16-fdace73b2ed8	ff4f5936-f847-42ad-aedf-6a6a7fff6002	g.chr22:40080410G>T	ENST00000402142.3	+	36	5934	c.5934G>T	c.(5932-5934)aaG>aaT	p.K1978N	CACNA1I_ENST00000400164.3_Missense_Mutation_p.K1943N|CACNA1I_ENST00000401624.1_Missense_Mutation_p.K1978N|CACNA1I_ENST00000407673.1_Missense_Mutation_p.K1943N|CACNA1I_ENST00000336649.4_Missense_Mutation_p.K1984N|CACNA1I_ENST00000404898.1_Missense_Mutation_p.K1943N	NM_021096.3	NP_066919.2	Q9P0X4	CAC1I_HUMAN	calcium channel, voltage-dependent, T type, alpha 1I subunit	1978					axon guidance (GO:0007411)|calcium ion import (GO:0070509)|membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|signal transduction (GO:0007165)|sleep (GO:0030431)|transport (GO:0006810)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	voltage-gated calcium channel activity (GO:0005245)	p.K1978N(1)|p.K1943N(1)		breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|liver(2)|lung(27)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Melanoma(58;0.0749)				Cinnarizine(DB00568)|Flunarizine(DB04841)|Paramethadione(DB00617)|Spironolactone(DB00421)|Verapamil(DB00661)|Zonisamide(DB00909)	GCCCAGAAAAGGGCACTGGCA	0.637																																						uc003ayc.2																			2	Substitution - Missense(2)		lung(2)	breast(1)|central_nervous_system(1)	2						c.(5932-5934)AAG>AAT		calcium channel, voltage-dependent, T type,	Flunarizine(DB04841)|Paramethadione(DB00617)|Verapamil(DB00661)						41.0	46.0	44.0					22																	40080410		2037	4192	6229	SO:0001583	missense	8911				axon guidance|signal transduction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity|protein binding	g.chr22:40080410G>T	AF129133	CCDS46710.1, CCDS46711.1	22q13.1	2012-03-07	2007-02-16		ENSG00000100346	ENSG00000100346		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1396	protein-coding gene	gene with protein product		608230				10454147, 16382099	Standard	NM_021096		Approved	Cav3.3	uc003ayd.3	Q9P0X4	OTTHUMG00000151096	ENST00000402142.3:c.5934G>T	22.37:g.40080410G>T	ENSP00000385019:p.Lys1978Asn					CACNA1I_uc003ayd.2_Missense_Mutation_p.K1943N|CACNA1I_uc003aye.2_Missense_Mutation_p.K1893N|CACNA1I_uc003ayf.2_Missense_Mutation_p.K1858N	p.K1978N	NM_021096	NP_066919	Q9P0X4	CAC1I_HUMAN			36	5934	+	Melanoma(58;0.0749)		1978			Cytoplasmic (Potential).		B0QY12|B0QY13|B0QY14|O95504|Q5JZ88|Q7Z6S9|Q8NFX6|Q9NZC8|Q9UH15|Q9UH30|Q9ULU9|Q9UNE6	Missense_Mutation	SNP	ENST00000402142.3	37	c.5934G>T	CCDS46710.1	.	.	.	.	.	.	.	.	.	.	G	5.003	0.186177	0.09495	.	.	ENSG00000100346	ENST00000402142;ENST00000404898;ENST00000401624;ENST00000407673;ENST00000336649;ENST00000400164	D;D;D;D;D;D	0.97016	-4.19;-4.15;-4.19;-4.15;-4.21;-4.12	5.05	0.656	0.17844	.	2.583880	0.02234	U	0.065144	D	0.91418	0.7292	N	0.24115	0.695	0.09310	N	1	B;B;B;B	0.23735	0.045;0.045;0.045;0.09	B;B;B;B	0.21151	0.033;0.022;0.022;0.015	T	0.83031	-0.0162	10	0.21014	T	0.42	.	5.0918	0.14711	0.428:0.0:0.4354:0.1366	.	1943;1978;1943;1978	Q9P0X4-3;Q9P0X4-2;Q9P0X4-4;Q9P0X4	.;.;.;CAC1I_HUMAN	N	1978;1943;1978;1943;1984;1943	ENSP00000385019:K1978N;ENSP00000384093:K1943N;ENSP00000383887:K1978N;ENSP00000385680:K1943N;ENSP00000337829:K1984N;ENSP00000383028:K1943N	ENSP00000337829:K1984N	K	+	3	2	CACNA1I	38410356	0.984000	0.35163	0.221000	0.23827	0.063000	0.16089	0.647000	0.24812	0.178000	0.19917	-0.291000	0.09656	AAG		PASS	0.637	CACNA1I-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000321290.1	NM_001003406		7	12	7	12	---	---	---	---
ENTHD1	150350	broad.mit.edu	37	22	40139939	40139939	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2756-01A-01D-1522-08	TCGA-66-2756-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	472c95e6-eccb-4988-be16-fdace73b2ed8	ff4f5936-f847-42ad-aedf-6a6a7fff6002	g.chr22:40139939C>G	ENST00000325157.6	-	7	1819	c.1569G>C	c.(1567-1569)caG>caC	p.Q523H		NM_152512.3	NP_689725.2	Q8IYW4	ENTD1_HUMAN	ENTH domain containing 1	523								p.Q523H(1)		breast(2)|endometrium(1)|kidney(6)|large_intestine(6)|lung(11)|ovary(3)|skin(3)	32	Melanoma(58;0.0749)					GAGGGATGAACTGGTCTACAT	0.408																																						uc003ayg.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(1)	3						c.(1567-1569)CAG>CAC		ENTH domain containing 1							63.0	60.0	61.0					22																	40139939		2203	4300	6503	SO:0001583	missense	150350							g.chr22:40139939C>G	AK093154	CCDS13998.1	22q13.1	2006-06-26			ENSG00000176177	ENSG00000176177			26352	protein-coding gene	gene with protein product						12477932	Standard	NM_152512		Approved	FLJ25421	uc003ayg.3	Q8IYW4	OTTHUMG00000151098	ENST00000325157.6:c.1569G>C	22.37:g.40139939C>G	ENSP00000317431:p.Gln523His						p.Q523H	NM_152512	NP_689725	Q8IYW4	ENTD1_HUMAN			7	1820	-	Melanoma(58;0.0749)		523					B0QYD5|Q5H9F7|Q96LK3	Missense_Mutation	SNP	ENST00000325157.6	37	c.1569G>C	CCDS13998.1	.	.	.	.	.	.	.	.	.	.	C	0.004	-2.276612	0.00254	.	.	ENSG00000176177	ENST00000325157	T	0.30714	1.52	5.75	0.00895	0.14076	.	0.911886	0.09396	N	0.807890	T	0.07324	0.0185	N	0.00368	-1.59	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.30822	-0.9965	10	0.33940	T	0.23	5.3232	4.52	0.11954	0.2792:0.3334:0.3873:0.0	.	523	Q8IYW4	ENTD1_HUMAN	H	523	ENSP00000317431:Q523H	ENSP00000317431:Q523H	Q	-	3	2	ENTHD1	38469885	0.003000	0.15002	0.000000	0.03702	0.171000	0.22731	0.608000	0.24223	0.048000	0.15891	-0.171000	0.13296	CAG		PASS	0.408	ENTHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321302.1	NM_152512		19	50	19	50	---	---	---	---
BRD1	23774	broad.mit.edu	37	22	50216868	50216868	+	Silent	SNP	G	G	T			TCGA-66-2756-01A-01D-1522-08	TCGA-66-2756-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	472c95e6-eccb-4988-be16-fdace73b2ed8	ff4f5936-f847-42ad-aedf-6a6a7fff6002	g.chr22:50216868G>T	ENST00000216267.8	-	1	1584	c.1098C>A	c.(1096-1098)ccC>ccA	p.P366P	BRD1_ENST00000404034.1_Silent_p.P366P|BRD1_ENST00000342989.5_5'Flank|BRD1_ENST00000542442.1_Silent_p.P5P|BRD1_ENST00000459821.1_5'UTR|BRD1_ENST00000404760.1_Silent_p.P366P|BRD1_ENST00000457780.2_Silent_p.P366P	NM_014577.1	NP_055392.1	O95696	BRD1_HUMAN	bromodomain containing 1	366					histone H3 acetylation (GO:0043966)	MOZ/MORF histone acetyltransferase complex (GO:0070776)|nucleus (GO:0005634)	histone binding (GO:0042393)|zinc ion binding (GO:0008270)	p.P366P(1)		endometrium(6)|kidney(3)|large_intestine(5)|lung(17)|ovary(1)|pancreas(1)|prostate(3)|skin(1)	37		all_cancers(38;6.11e-10)|all_epithelial(38;8.06e-09)|all_lung(38;6.64e-05)|Lung NSC(38;0.0011)|Breast(42;0.00235)|Ovarian(80;0.0139)|Lung SC(80;0.164)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0369)|BRCA - Breast invasive adenocarcinoma(115;0.21)		GTTCCTTCACGGGCTCCATTT	0.577																																						uc003biv.2																			1	Substitution - coding silent(1)		lung(1)	pancreas(1)	1						c.(1096-1098)CCC>CCA		bromodomain containing protein 1							110.0	118.0	115.0					22																	50216868		2203	4300	6503	SO:0001819	synonymous_variant	23774				histone H3 acetylation	MOZ/MORF histone acetyltransferase complex	zinc ion binding	g.chr22:50216868G>T	AF005067	CCDS14080.1	22q13.33	2008-07-01	2002-01-14		ENSG00000100425	ENSG00000100425			1102	protein-coding gene	gene with protein product	"""BR140-like"""	604589	"""bromodomain-containing 1"""			10591208, 10602503	Standard	NM_014577		Approved	BRL, BRPF2	uc003biv.3	O95696	OTTHUMG00000150288	ENST00000216267.8:c.1098C>A	22.37:g.50216868G>T						BRD1_uc011arf.1_5'UTR|BRD1_uc011arg.1_Silent_p.P366P|BRD1_uc011arh.1_Silent_p.P366P|BRD1_uc003biu.3_Silent_p.P366P	p.P366P	NM_014577	NP_055392	O95696	BRD1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (28;0.0369)|BRCA - Breast invasive adenocarcinoma(115;0.21)	1	1585	-		all_cancers(38;6.11e-10)|all_epithelial(38;8.06e-09)|all_lung(38;6.64e-05)|Lung NSC(38;0.0011)|Breast(42;0.00235)|Ovarian(80;0.0139)|Lung SC(80;0.164)	366					A6ZJA4	Silent	SNP	ENST00000216267.8	37	c.1098C>A	CCDS14080.1																																																																																				PASS	0.577	BRD1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317402.1	NM_014577		67	86	67	86	---	---	---	---
MXRA5	25878	broad.mit.edu	37	X	3235239	3235239	+	Silent	SNP	T	T	C			TCGA-66-2756-01A-01D-1522-08	TCGA-66-2756-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	472c95e6-eccb-4988-be16-fdace73b2ed8	ff4f5936-f847-42ad-aedf-6a6a7fff6002	g.chrX:3235239T>C	ENST00000217939.6	-	6	6637	c.6483A>G	c.(6481-6483)ggA>ggG	p.G2161G		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	2161	Ig-like C2-type 6.					extracellular vesicular exosome (GO:0070062)		p.G2161G(2)		NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				TGAGGGTTCCTCCGTACCTGA	0.687																																						uc004crg.3																			2	Substitution - coding silent(2)		lung(2)	ovary(5)|lung(1)|central_nervous_system(1)|skin(1)	8						c.(6481-6483)GGA>GGG		adlican precursor							27.0	22.0	23.0					X																	3235239		2203	4298	6501	SO:0001819	synonymous_variant	25878					extracellular region		g.chrX:3235239T>C	AF245505	CCDS14124.1	Xp22.33	2013-01-29			ENSG00000101825	ENSG00000101825		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	7539	protein-coding gene	gene with protein product	"""adlican"""					12101425	Standard	NM_015419		Approved	DKFZp564I1922	uc004crg.4	Q9NR99	OTTHUMG00000021083	ENST00000217939.6:c.6483A>G	X.37:g.3235239T>C							p.G2161G	NM_015419	NP_056234	Q9NR99	MXRA5_HUMAN			6	6640	-		all_lung(23;0.00031)|Lung NSC(23;0.000946)	2161			Ig-like C2-type 6.		Q6P1M7|Q9Y3Y8	Silent	SNP	ENST00000217939.6	37	c.6483A>G	CCDS14124.1																																																																																				PASS	0.687	MXRA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055655.2	NM_015419		5	2	5	2	---	---	---	---
MXRA5	25878	broad.mit.edu	37	X	3238595	3238595	+	Missense_Mutation	SNP	T	T	C			TCGA-66-2756-01A-01D-1522-08	TCGA-66-2756-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	472c95e6-eccb-4988-be16-fdace73b2ed8	ff4f5936-f847-42ad-aedf-6a6a7fff6002	g.chrX:3238595T>C	ENST00000217939.6	-	5	5285	c.5131A>G	c.(5131-5133)Aga>Gga	p.R1711G		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	1711						extracellular vesicular exosome (GO:0070062)		p.R1711G(2)		NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				ACTGGGTTTCTTGCCTCAGGG	0.433																																						uc004crg.3																			2	Substitution - Missense(2)		lung(2)	ovary(5)|lung(1)|central_nervous_system(1)|skin(1)	8						c.(5131-5133)AGA>GGA		adlican precursor							97.0	92.0	94.0					X																	3238595		2203	4300	6503	SO:0001583	missense	25878					extracellular region		g.chrX:3238595T>C	AF245505	CCDS14124.1	Xp22.33	2013-01-29			ENSG00000101825	ENSG00000101825		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	7539	protein-coding gene	gene with protein product	"""adlican"""					12101425	Standard	NM_015419		Approved	DKFZp564I1922	uc004crg.4	Q9NR99	OTTHUMG00000021083	ENST00000217939.6:c.5131A>G	X.37:g.3238595T>C	ENSP00000217939:p.Arg1711Gly						p.R1711G	NM_015419	NP_056234	Q9NR99	MXRA5_HUMAN			5	5288	-		all_lung(23;0.00031)|Lung NSC(23;0.000946)	1711					Q6P1M7|Q9Y3Y8	Missense_Mutation	SNP	ENST00000217939.6	37	c.5131A>G	CCDS14124.1	.	.	.	.	.	.	.	.	.	.	T	13.84	2.357881	0.41801	.	.	ENSG00000101825	ENST00000381114;ENST00000217939	T	0.70631	-0.5	3.18	3.18	0.36537	.	0.172475	0.27189	U	0.020512	T	0.53206	0.1782	N	0.14661	0.345	0.09310	N	1	P	0.43750	0.816	B	0.40741	0.339	T	0.50398	-0.8833	10	0.56958	D	0.05	.	11.2965	0.49282	0.0:0.0:0.0:1.0	.	1711	Q9NR99	MXRA5_HUMAN	G	1711	ENSP00000217939:R1711G	ENSP00000217939:R1711G	R	-	1	2	MXRA5	3248595	0.491000	0.26019	0.002000	0.10522	0.949000	0.60115	2.005000	0.40864	0.996000	0.38943	0.237000	0.17872	AGA		PASS	0.433	MXRA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055655.2	NM_015419		18	106	18	106	---	---	---	---
MAGEB6	158809	broad.mit.edu	37	X	26212413	26212413	+	Silent	SNP	A	A	T			TCGA-66-2756-01A-01D-1522-08	TCGA-66-2756-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	472c95e6-eccb-4988-be16-fdace73b2ed8	ff4f5936-f847-42ad-aedf-6a6a7fff6002	g.chrX:26212413A>T	ENST00000379034.1	+	2	599	c.450A>T	c.(448-450)ggA>ggT	p.G150G		NM_173523.2	NP_775794.2	Q8N7X4	MAGB6_HUMAN	melanoma antigen family B, 6	150	Ser-rich.							p.G150G(1)		breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(18)|ovary(3)|prostate(2)	33						AGTCTCAGGGAGCTTCACCCA	0.517																																						uc004dbr.2																			1	Substitution - coding silent(1)		lung(1)	ovary(3)	3						c.(448-450)GGA>GGT		melanoma antigen family B, 6							64.0	59.0	61.0					X																	26212413		2202	4300	6502	SO:0001819	synonymous_variant	158809							g.chrX:26212413A>T	AF320514	CCDS14217.1	Xp22.12	2009-03-17			ENSG00000176746	ENSG00000176746			23796	protein-coding gene	gene with protein product	"""cancer/testis antigen family 3, member 4"""	300467				10861452	Standard	NM_173523		Approved	FLJ40242, MAGE-B6, MAGEB6A, CT3.4	uc004dbr.3	Q8N7X4	OTTHUMG00000021285	ENST00000379034.1:c.450A>T	X.37:g.26212413A>T						MAGEB6_uc010ngc.1_5'UTR	p.G150G	NM_173523	NP_775794	Q8N7X4	MAGB6_HUMAN			2	599	+			150			Ser-rich.		Q6GS19|Q9H219	Silent	SNP	ENST00000379034.1	37	c.450A>T	CCDS14217.1																																																																																				PASS	0.517	MAGEB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056123.1	NM_173523		18	9	18	9	---	---	---	---
IL1RAPL1	11141	broad.mit.edu	37	X	29972727	29972728	+	Missense_Mutation	DNP	CC	CC	AA			TCGA-66-2756-01A-01D-1522-08	TCGA-66-2756-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	472c95e6-eccb-4988-be16-fdace73b2ed8	ff4f5936-f847-42ad-aedf-6a6a7fff6002	g.chrX:29972727_29972728CC>AA	ENST00000378993.1	+	10	1963_1964	c.1290_1291CC>AA	c.(1288-1293)gcCCtt>gcAAtt	p.L431I	IL1RAPL1_ENST00000302196.4_Missense_Mutation_p.L431I	NM_014271.3	NP_055086.1	Q9NZN1	IRPL1_HUMAN	interleukin 1 receptor accessory protein-like 1	431	TIR. {ECO:0000255|PROSITE- ProRule:PRU00204}.				calcium ion transmembrane transport (GO:0070588)|heterophilic cell-cell adhesion (GO:0007157)|negative regulation of exocytosis (GO:0045920)|neuron differentiation (GO:0030182)|positive regulation of dendrite morphogenesis (GO:0050775)|presynaptic membrane assembly (GO:0097105)|regulation of neuron projection development (GO:0010975)|signal transduction (GO:0007165)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	receptor binding (GO:0005102)|voltage-gated calcium channel activity (GO:0005245)	p.L431I(4)|p.A430A(2)		biliary_tract(1)|breast(1)|endometrium(5)|large_intestine(9)|lung(38)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62						AACGTTTTGCCCTTGAAATCCT	0.347																																						uc004dby.2																			6	Substitution - Missense(4)|Substitution - coding silent(2)		lung(6)	ovary(3)|lung(1)|pancreas(1)	5						c.(1288-1290)GCC>GCA|c.(1291-1293)CTT>ATT		interleukin 1 receptor accessory protein-like 1																																				SO:0001583	missense	11141				innate immune response|negative regulation of calcium ion transport via voltage-gated calcium channel activity|negative regulation of exocytosis|regulation of neuron projection development	cytoplasm|integral to membrane|plasma membrane	protein binding|transmembrane receptor activity	g.chrX:29972727C>A|g.chrX:29972728C>A	AJ243874	CCDS14218.1	Xp22.1-p21.3	2013-01-29	2004-02-13		ENSG00000169306	ENSG00000169306		"""Interleukins and interleukin receptors"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5996	protein-coding gene	gene with protein product		300206	"""mental retardation, X-linked 34"", ""mental retardation, X-linked 21"", ""mental retardation, X-linked 10"""	IL1RAPL, MRX34, MRX21, MRX10		10471494, 10757639	Standard	NM_014271		Approved	OPHN4, TIGIRR-2, IL1R8	uc004dby.2	Q9NZN1	OTTHUMG00000021317	Exception_encountered	X.37:g.29972727_29972728delinsAA	ENSP00000368278:p.Leu431Ile						p.A430A|p.L431I	NM_014271	NP_055086	Q9NZN1	IRPL1_HUMAN			10	1798|1799	+			430|431			Cytoplasmic (Potential).|TIR.		A0AVG4|Q9UJ53	Silent|Missense_Mutation	SNP	ENST00000378993.1	37	c.1290C>A|c.1291C>A	CCDS14218.1																																																																																				PASS	0.347	IL1RAPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056155.1	NM_014271		28|29	16	28	16	---	---	---	---
MAGEB1	4112	broad.mit.edu	37	X	30269642	30269643	+	Missense_Mutation	DNP	CC	CC	AA			TCGA-66-2756-01A-01D-1522-08	TCGA-66-2756-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	472c95e6-eccb-4988-be16-fdace73b2ed8	ff4f5936-f847-42ad-aedf-6a6a7fff6002	g.chrX:30269642_30269643CC>AA	ENST00000378981.3	+	4	1353_1354	c.1032_1033CC>AA	c.(1030-1035)tcCCac>tcAAac	p.H345N	MAGEB1_ENST00000397550.1_Missense_Mutation_p.H345N|MAGEB1_ENST00000397548.2_Missense_Mutation_p.H345N	NM_002363.4	NP_002354.2	P43366	MAGB1_HUMAN	melanoma antigen family B, 1	345								p.H345N(2)|p.S344S(1)		NS(2)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(8)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	32						GCAGGTCCTCCCACCCCATGTG	0.51																																						uc004dcc.2																			3	Substitution - Missense(2)|Substitution - coding silent(1)		lung(3)		0						c.(1030-1032)TCC>TCA|c.(1033-1035)CAC>AAC		melanoma antigen family B, 1																																				SO:0001583	missense	4112							g.chrX:30269642C>A|g.chrX:30269643C>A		CCDS14222.1	Xp21.3	2009-03-17			ENSG00000214107	ENSG00000214107			6808	protein-coding gene	gene with protein product	"""DSS/AHC critical interval MAGE superfamily 10"", ""cancer/testis antigen family 3, member 1"""	300097				7761436, 9441743	Standard	NM_002363		Approved	MAGEL1, MAGE-Xp, DAM10, MGC9322, CT3.1	uc004dce.3	P43366	OTTHUMG00000021322	Exception_encountered	X.37:g.30269642_30269643delinsAA	ENSP00000368264:p.His345Asn					MAGEB1_uc004dcd.2_Silent_p.S344S|MAGEB1_uc004dce.2_Silent_p.S344S|MAGEB1_uc004dcd.2_Missense_Mutation_p.H345N|MAGEB1_uc004dce.2_Missense_Mutation_p.H345N	p.S344S|p.H345N	NM_002363	NP_002354	P43366	MAGB1_HUMAN			4	1352|1353	+			344|345					B2RC79|O00601|O75862|Q6FHJ0|Q96CW8	Silent|Missense_Mutation	SNP	ENST00000378981.3	37	c.1032C>A|c.1033C>A	CCDS14222.1																																																																																				PASS	0.510	MAGEB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056160.1	NM_002363		12|13	8	12	8	---	---	---	---
FAM47C	442444	broad.mit.edu	37	X	37026573	37026573	+	Silent	SNP	C	C	T			TCGA-66-2756-01A-01D-1522-08	TCGA-66-2756-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	472c95e6-eccb-4988-be16-fdace73b2ed8	ff4f5936-f847-42ad-aedf-6a6a7fff6002	g.chrX:37026573C>T	ENST00000358047.3	+	1	142	c.90C>T	c.(88-90)ttC>ttT	p.F30F		NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN	family with sequence similarity 47, member C	30								p.F30F(3)		breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						CCAAGTACTTCGCGAAGCGCA	0.642																																						uc004ddl.1																			3	Substitution - coding silent(3)		lung(2)|skin(1)	ovary(3)	3						c.(88-90)TTC>TTT		hypothetical protein LOC442444							27.0	26.0	26.0					X																	37026573		2202	4299	6501	SO:0001819	synonymous_variant	442444							g.chrX:37026573C>T	AK125992	CCDS35227.1	Xp21.1	2006-07-04			ENSG00000198173	ENSG00000198173			25301	protein-coding gene	gene with protein product							Standard	NM_001013736		Approved		uc004ddl.2	Q5HY64	OTTHUMG00000024025	ENST00000358047.3:c.90C>T	X.37:g.37026573C>T							p.F30F	NM_001013736	NP_001013758	Q5HY64	FA47C_HUMAN			1	104	+			30					Q6ZU46	Silent	SNP	ENST00000358047.3	37	c.90C>T	CCDS35227.1																																																																																				PASS	0.642	FAM47C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060508.1	NM_001013736		11	19	11	19	---	---	---	---
WDR13	64743	broad.mit.edu	37	X	48463413	48463413	+	Missense_Mutation	SNP	A	A	T			TCGA-66-2756-01A-01D-1522-08	TCGA-66-2756-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	472c95e6-eccb-4988-be16-fdace73b2ed8	ff4f5936-f847-42ad-aedf-6a6a7fff6002	g.chrX:48463413A>T	ENST00000218056.5	+	9	1956	c.1451A>T	c.(1450-1452)cAg>cTg	p.Q484L	WDR13_ENST00000376729.5_Missense_Mutation_p.Q484L	NM_001166426.1|NM_017883.4	NP_001159898.1|NP_060353	Q9H1Z4	WDR13_HUMAN	WD repeat domain 13	484						cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.Q484L(2)		endometrium(1)|large_intestine(4)|lung(4)|ovary(2)	11						AGGCGGGAGCAGAAGTAGGGT	0.602																																						uc004dkh.1																			2	Substitution - Missense(2)		lung(2)	ovary(2)	2						c.(1450-1452)CAG>CTG		WD repeat domain 13 protein							52.0	36.0	41.0					X																	48463413		2203	4300	6503	SO:0001583	missense	64743					cytoplasm|nucleus		g.chrX:48463413A>T	AF329819	CCDS14302.1	Xp11.23	2013-01-09			ENSG00000101940	ENSG00000101940		"""WD repeat domain containing"""	14352	protein-coding gene	gene with protein product		300512					Standard	NM_017883		Approved		uc004dkj.2	Q9H1Z4	OTTHUMG00000024119	ENST00000218056.5:c.1451A>T	X.37:g.48463413A>T	ENSP00000218056:p.Gln484Leu					WDR13_uc004dki.1_Missense_Mutation_p.Q392L|WDR13_uc004dkj.1_Missense_Mutation_p.Q484L|WDR13_uc004dkk.1_Missense_Mutation_p.Q392L|WDR13_uc004dkl.3_Missense_Mutation_p.Q392L	p.Q484L	NM_017883	NP_060353	Q9H1Z4	WDR13_HUMAN			10	1598	+			484			WD 5.		Q06DW8|Q06DX0|Q06DX1|Q9BUL7|Q9NWW4	Missense_Mutation	SNP	ENST00000218056.5	37	c.1451A>T	CCDS14302.1	.	.	.	.	.	.	.	.	.	.	A	24.6	4.548370	0.86127	.	.	ENSG00000101940	ENST00000376729;ENST00000218056	T;T	0.72615	-0.67;-0.67	5.32	5.32	0.75619	WD40-repeat-containing domain (1);	0.056618	0.64402	D	0.000001	T	0.76758	0.4032	L	0.58810	1.83	0.58432	D	0.999991	D	0.55605	0.972	P	0.55871	0.786	T	0.78730	-0.2090	10	0.59425	D	0.04	1.214	12.3445	0.55114	1.0:0.0:0.0:0.0	.	484	Q9H1Z4	WDR13_HUMAN	L	484	ENSP00000365919:Q484L;ENSP00000218056:Q484L	ENSP00000218056:Q484L	Q	+	2	0	WDR13	48348357	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	6.400000	0.73252	1.890000	0.54733	0.483000	0.47432	CAG		PASS	0.602	WDR13-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060743.2			15	7	15	7	---	---	---	---
XIST	7503	broad.mit.edu	37	X	73062809	73062809	+	lincRNA	SNP	T	T	A			TCGA-66-2756-01A-01D-1522-08	TCGA-66-2756-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	472c95e6-eccb-4988-be16-fdace73b2ed8	ff4f5936-f847-42ad-aedf-6a6a7fff6002	g.chrX:73062809T>A	ENST00000429829.1	-	0	9779					NR_001564.2				X inactive specific transcript (non-protein coding)																		TACCTGTGATTTTACACACTG	0.453																																						uc004ebm.1																			0					0								Homo sapiens cDNA: FLJ21545 fis, clone COL06195.							84.0	77.0	79.0					X																	73062809		876	1991	2867			7503							g.chrX:73062809T>A	M97168		Xq13.2	2013-12-18	2013-02-07		ENSG00000229807	ENSG00000229807		"""Long non-coding RNAs"", ""-"""	12810	non-coding RNA	RNA, long non-coding	"""long intergenic non-protein coding RNA 1"""	314670	"""X (inactive)-specific transcript"", ""X (inactive)-specific transcript (non-protein coding)"""	DXS399E		1985261, 2034279	Standard	NR_001564		Approved	NCRNA00001, DXS1089, swd66, LINC00001	uc004ebm.2		OTTHUMG00000021839		X.37:g.73062809T>A								NR_001564						1		-									RNA	SNP	ENST00000429829.1	37	c.9780A>T																																																																																					PASS	0.453	XIST-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000057239.1	NR_001564		58	9	58	9	---	---	---	---
KIAA2022	340533	broad.mit.edu	37	X	73963708	73963708	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2756-01A-01D-1522-08	TCGA-66-2756-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	472c95e6-eccb-4988-be16-fdace73b2ed8	ff4f5936-f847-42ad-aedf-6a6a7fff6002	g.chrX:73963708C>A	ENST00000055682.6	-	3	1295	c.684G>T	c.(682-684)gaG>gaT	p.E228D		NM_001008537.2	NP_001008537.1	Q5QGS0	K2022_HUMAN	KIAA2022	228					base-excision repair, gap-filling (GO:0006287)|DNA replication proofreading (GO:0045004)|DNA replication, removal of RNA primer (GO:0043137)|nervous system development (GO:0007399)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|nucleotide-excision repair, DNA gap filling (GO:0006297)|regulation of mitotic cell cycle (GO:0007346)	delta DNA polymerase complex (GO:0043625)|nucleus (GO:0005634)	3'-5' exonuclease activity (GO:0008408)|DNA-directed DNA polymerase activity (GO:0003887)	p.E228D(1)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(23)|liver(1)|lung(41)|ovary(7)|pancreas(2)|prostate(4)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	109						GAGCCGGATCCTCCAAGTCAA	0.478																																						uc004eby.2																			1	Substitution - Missense(1)		lung(1)	ovary(7)|large_intestine(4)|skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)	15						c.(682-684)GAG>GAT		hypothetical protein LOC340533							161.0	145.0	151.0					X																	73963708		2203	4299	6502	SO:0001583	missense	340533				base-excision repair, gap-filling|DNA replication proofreading|DNA replication, removal of RNA primer|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle|S phase of mitotic cell cycle	delta DNA polymerase complex	3'-5'-exodeoxyribonuclease activity|DNA-directed DNA polymerase activity	g.chrX:73963708C>A		CCDS35337.1	Xq13.3	2014-02-19			ENSG00000050030	ENSG00000050030			29433	protein-coding gene	gene with protein product	"""XLMR-related protein, neurite extension"""	300524				15466006, 23615299	Standard	NM_001008537		Approved	XPN, MRX98	uc004eby.3	Q5QGS0	OTTHUMG00000021860	ENST00000055682.6:c.684G>T	X.37:g.73963708C>A	ENSP00000055682:p.Glu228Asp						p.E228D	NM_001008537	NP_001008537	Q5QGS0	K2022_HUMAN			3	1301	-			228					A7YY87|Q5JUX9|Q8IVE9	Missense_Mutation	SNP	ENST00000055682.6	37	c.684G>T	CCDS35337.1	.	.	.	.	.	.	.	.	.	.	C	10.25	1.298429	0.23650	.	.	ENSG00000050030	ENST00000373468;ENST00000055682	T;T	0.36157	1.27;1.27	5.97	3.09	0.35607	.	0.099972	0.64402	D	0.000002	T	0.24624	0.0597	L	0.38531	1.155	0.42671	D	0.993517	P	0.40619	0.724	B	0.34452	0.183	T	0.02150	-1.1205	10	0.44086	T	0.13	-15.48	9.7588	0.40519	0.0:0.7818:0.0:0.2182	.	228	Q5QGS0	K2022_HUMAN	D	228	ENSP00000362567:E228D;ENSP00000055682:E228D	ENSP00000055682:E228D	E	-	3	2	KIAA2022	73880433	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	1.480000	0.35464	0.194000	0.20326	0.600000	0.82982	GAG		PASS	0.478	KIAA2022-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057270.2	NM_001008537		116	45	116	45	---	---	---	---
P2RY10	27334	broad.mit.edu	37	X	78216657	78216657	+	Missense_Mutation	SNP	A	A	T			TCGA-66-2756-01A-01D-1522-08	TCGA-66-2756-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	472c95e6-eccb-4988-be16-fdace73b2ed8	ff4f5936-f847-42ad-aedf-6a6a7fff6002	g.chrX:78216657A>T	ENST00000171757.2	+	4	920	c.640A>T	c.(640-642)Atc>Ttc	p.I214F	P2RY10_ENST00000544091.1_Missense_Mutation_p.I214F	NM_014499.2	NP_055314.1	O00398	P2Y10_HUMAN	purinergic receptor P2Y, G-protein coupled, 10	214						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled purinergic nucleotide receptor activity (GO:0045028)	p.I214F(1)		breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(9)|lung(22)|ovary(3)|skin(2)	42						AGTGATCATCATCGCATGGTG	0.473																																						uc004ede.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|lung(2)|breast(1)	5						c.(640-642)ATC>TTC		G-protein coupled purinergic receptor P2Y10							164.0	124.0	137.0					X																	78216657		2203	4300	6503	SO:0001583	missense	27334					integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled	g.chrX:78216657A>T	AF000545	CCDS14442.1	Xq21.1	2012-08-23			ENSG00000078589	ENSG00000078589		"""Purinergic receptors"", ""GPCR / Class A : Purinergic receptors, P2Y"""	19906	protein-coding gene	gene with protein product		300529				11004484, 9755289	Standard	NM_014499		Approved	P2Y10	uc004edf.3	O00398	OTTHUMG00000021896	ENST00000171757.2:c.640A>T	X.37:g.78216657A>T	ENSP00000171757:p.Ile214Phe					P2RY10_uc004edf.2_Missense_Mutation_p.I214F	p.I214F	NM_014499	NP_055314	O00398	P2Y10_HUMAN			4	1009	+			214			Helical; Name=5; (Potential).		D3DTE5|Q4VBN7|Q86V16	Missense_Mutation	SNP	ENST00000171757.2	37	c.640A>T	CCDS14442.1	.	.	.	.	.	.	.	.	.	.	A	14.45	2.540351	0.45176	.	.	ENSG00000078589	ENST00000544091;ENST00000171757	T;T	0.48836	0.8;0.8	4.82	4.82	0.62117	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.70064	0.3181	M	0.86028	2.79	0.58432	D	0.999997	D	0.69078	0.997	D	0.76575	0.988	T	0.75425	-0.3322	10	0.72032	D	0.01	.	12.3133	0.54940	1.0:0.0:0.0:0.0	.	214	O00398	P2Y10_HUMAN	F	214	ENSP00000443138:I214F;ENSP00000171757:I214F	ENSP00000171757:I214F	I	+	1	0	P2RY10	78103313	0.991000	0.36638	0.171000	0.22900	0.473000	0.32948	4.055000	0.57441	1.788000	0.52465	0.438000	0.28831	ATC		PASS	0.473	P2RY10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057323.1			40	24	40	24	---	---	---	---
TBX22	50945	broad.mit.edu	37	X	79286062	79286062	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2756-01A-01D-1522-08	TCGA-66-2756-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	472c95e6-eccb-4988-be16-fdace73b2ed8	ff4f5936-f847-42ad-aedf-6a6a7fff6002	g.chrX:79286062C>A	ENST00000373294.5	+	8	1043	c.1015C>A	c.(1015-1017)Ctt>Att	p.L339I	TBX22_ENST00000373296.3_Missense_Mutation_p.L339I|TBX22_ENST00000373291.1_Missense_Mutation_p.L219I|TBX22_ENST00000442340.1_Missense_Mutation_p.L219I	NM_016954.2	NP_058650.1	Q9Y458	TBX22_HUMAN	T-box 22	339					multicellular organismal development (GO:0007275)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.L339I(1)		breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(13)|lung(38)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	65						GAACTCCTTACTTTCTCCACT	0.483																																						uc010nmg.1																			1	Substitution - Missense(1)		lung(1)	lung(7)|large_intestine(3)|central_nervous_system(2)|breast(1)|skin(1)|ovary(1)	15						c.(1015-1017)CTT>ATT		T-box 22 isoform 1							119.0	108.0	112.0					X																	79286062		2203	4300	6503	SO:0001583	missense	50945				multicellular organismal development|negative regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chrX:79286062C>A	AL031000	CCDS14445.1, CCDS43975.1	Xq21.1	2011-02-11			ENSG00000122145	ENSG00000122145		"""T-boxes"""	11600	protein-coding gene	gene with protein product		300307	"""cleft palate and/or ankyloglossia"""	CPX, CLPA		11559848, 14729838	Standard	NM_001109878		Approved		uc004edj.1	Q9Y458	OTTHUMG00000021901	ENST00000373294.5:c.1015C>A	X.37:g.79286062C>A	ENSP00000362390:p.Leu339Ile					TBX22_uc004edi.1_Missense_Mutation_p.L219I|TBX22_uc004edj.1_Missense_Mutation_p.L339I	p.L339I	NM_001109878	NP_001103348	Q9Y458	TBX22_HUMAN			9	1149	+			339					Q5JZ06|Q96LC0|Q9HBF1	Missense_Mutation	SNP	ENST00000373294.5	37	c.1015C>A	CCDS14445.1	.	.	.	.	.	.	.	.	.	.	C	15.09	2.730132	0.48939	.	.	ENSG00000122145	ENST00000373296;ENST00000442340;ENST00000373294;ENST00000373291	D;D;D;D	0.84660	-1.88;-1.88;-1.88;-1.88	4.64	3.76	0.43208	.	0.681037	0.12687	N	0.447489	D	0.82384	0.5025	M	0.66939	2.045	0.37911	D	0.931351	P	0.39060	0.657	B	0.35182	0.197	T	0.78590	-0.2145	10	0.33940	T	0.23	.	11.9282	0.52831	0.1755:0.8245:0.0:0.0	.	339	Q9Y458	TBX22_HUMAN	I	339;219;339;219	ENSP00000362393:L339I;ENSP00000396394:L219I;ENSP00000362390:L339I;ENSP00000362388:L219I	ENSP00000362388:L219I	L	+	1	0	TBX22	79172718	1.000000	0.71417	0.944000	0.38274	0.947000	0.59692	2.282000	0.43461	0.726000	0.32339	0.513000	0.50165	CTT		PASS	0.483	TBX22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057334.1	NM_016954		106	27	106	27	---	---	---	---
PCDH11X	27328	broad.mit.edu	37	X	91066259	91066259	+	5'UTR	SNP	C	C	A			TCGA-66-2756-01A-01D-1522-08	TCGA-66-2756-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	472c95e6-eccb-4988-be16-fdace73b2ed8	ff4f5936-f847-42ad-aedf-6a6a7fff6002	g.chrX:91066259C>A	ENST00000395337.2	+	0	554					NM_032967.2	NP_116749.1	Q9BZA7	PC11X_HUMAN	protocadherin 11 X-linked						homophilic cell adhesion (GO:0007156)|negative regulation of phosphatase activity (GO:0010923)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	159						ACTATGAGGACTGAACGACAG	0.388																																					NSCLC(38;925 1092 2571 38200 45895)	uc004efh.1																			0				large_intestine(2)	2						c.(-81--77)GACTG>GAATG		protocadherin 11 X-linked isoform b precursor							91.0	87.0	88.0					X																	91066259		876	1991	2867	SO:0001623	5_prime_UTR_variant	27328				homophilic cell adhesion	integral to plasma membrane	calcium ion binding	g.chrX:91066259C>A	AB026187	CCDS14461.1, CCDS14462.1, CCDS55458.1, CCDS55459.1, CCDS55460.1, CCDS55461.1	Xq21.3	2014-06-13	2002-05-22	2002-05-24	ENSG00000102290	ENSG00000102290		"""Cadherins / Protocadherins : Non-clustered"""	8656	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 119"""	300246	"""protocadherin 11"""	PCDH11		10644456	Standard	NM_001168360		Approved	PCDH-X, PCDHX, PPP1R119	uc004efm.2	Q9BZA7	OTTHUMG00000021965	ENST00000395337.2:c.-80C>A	X.37:g.91066259C>A								NM_032967	NP_116749	Q9BZA7	PC11X_HUMAN			3	510	+								A6NIQ4|Q2TJH0|Q2TJH1|Q2TJH3|Q5JVZ0|Q70LR8|Q70LS7|Q70LS8|Q70LS9|Q70LT7|Q70LT8|Q70LT9|Q70LU0|Q70LU1|Q96RV4|Q96RW0|Q9BZA6|Q9H4E0|Q9P2M0|Q9P2X5	Translation_Start_Site	SNP	ENST00000395337.2	37	c.-79C>A	CCDS14463.1																																																																																				PASS	0.388	PCDH11X-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000057440.2	NM_032969		43	15	43	15	---	---	---	---
TNMD	64102	broad.mit.edu	37	X	99854605	99854605	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2756-01A-01D-1522-08	TCGA-66-2756-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	472c95e6-eccb-4988-be16-fdace73b2ed8	ff4f5936-f847-42ad-aedf-6a6a7fff6002	g.chrX:99854605C>A	ENST00000373031.4	+	7	1062	c.845C>A	c.(844-846)cCt>cAt	p.P282H		NM_022144.2	NP_071427.2	Q9H2S6	TNMD_HUMAN	tenomodulin	282					cellular response to BMP stimulus (GO:0071773)|endothelial cell morphogenesis (GO:0001886)|negative regulation of angiogenesis (GO:0016525)|negative regulation of endothelial cell proliferation (GO:0001937)|tendon cell differentiation (GO:0035990)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)		p.P282H(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(7)|skin(1)	16						GTCTGTGAACCTTTACTAGGC	0.502																																						uc004efy.3																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1						c.(844-846)CCT>CAT		tenomodulin							101.0	61.0	74.0					X																	99854605		2203	4300	6503	SO:0001583	missense	64102					integral to membrane		g.chrX:99854605C>A	AF191770	CCDS14469.1	Xq21.33-q23	2012-10-10			ENSG00000000005	ENSG00000000005		"""BRICHOS domain containing"""	17757	protein-coding gene	gene with protein product	"""BRICHOS domain containing 4"""	300459					Standard	NM_022144		Approved	myodulin, ChM1L, tendin, TEM, BRICD4	uc004efy.4	Q9H2S6	OTTHUMG00000022001	ENST00000373031.4:c.845C>A	X.37:g.99854605C>A	ENSP00000362122:p.Pro282His					TNMD_uc004efz.2_3'UTR	p.P282H	NM_022144	NP_071427	Q9H2S6	TNMD_HUMAN			7	1071	+			282			Extracellular (Potential).		Q9HBX0|Q9UJG0	Missense_Mutation	SNP	ENST00000373031.4	37	c.845C>A	CCDS14469.1	.	.	.	.	.	.	.	.	.	.	C	26.7	4.759655	0.89932	.	.	ENSG00000000005	ENST00000373031	T	0.63417	-0.04	5.87	5.87	0.94306	.	0.000000	0.85682	D	0.000000	T	0.75133	0.3808	L	0.43152	1.355	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.76743	-0.2847	10	0.87932	D	0	-29.5351	19.1351	0.93424	0.0:1.0:0.0:0.0	.	282	Q9H2S6	TNMD_HUMAN	H	282	ENSP00000362122:P282H	ENSP00000362122:P282H	P	+	2	0	TNMD	99741261	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.477000	0.66799	2.469000	0.83416	0.594000	0.82650	CCT		PASS	0.502	TNMD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057481.1	NM_022144		23	9	23	9	---	---	---	---
SRPX2	27286	broad.mit.edu	37	X	99917334	99917334	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2756-01A-01D-1522-08	TCGA-66-2756-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	472c95e6-eccb-4988-be16-fdace73b2ed8	ff4f5936-f847-42ad-aedf-6a6a7fff6002	g.chrX:99917334C>T	ENST00000373004.3	+	4	753	c.325C>T	c.(325-327)Cgt>Tgt	p.R109C		NM_014467.2	NP_055282.1	O60687	SRPX2_HUMAN	sushi-repeat containing protein, X-linked 2	109	Sushi 1. {ECO:0000255|PROSITE- ProRule:PRU00302}.				angiogenesis (GO:0001525)|cell motility (GO:0048870)|positive regulation of cell migration involved in sprouting angiogenesis (GO:0090050)|positive regulation of synapse assembly (GO:0051965)|regulation of phosphorylation (GO:0042325)|single organismal cell-cell adhesion (GO:0016337)|vocalization behavior (GO:0071625)	cell junction (GO:0030054)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|excitatory synapse (GO:0060076)|extracellular space (GO:0005615)|synaptic membrane (GO:0097060)	hepatocyte growth factor binding (GO:0036458)|identical protein binding (GO:0042802)|receptor binding (GO:0005102)	p.R109C(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(10)|ovary(2)|upper_aerodigestive_tract(1)	19						CCTGCCAAGCCGTCGTTGGTC	0.557																																						uc004egb.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(325-327)CGT>TGT		sushi-repeat-containing protein, X-linked 2							149.0	120.0	129.0					X																	99917334		2203	4300	6503	SO:0001583	missense	27286				angiogenesis|cell motility|cell-cell adhesion|positive regulation of cell migration involved in sprouting angiogenesis|regulation of phosphorylation	cytoplasm|extracellular region	receptor binding	g.chrX:99917334C>T	AF393649	CCDS14471.1	Xq21.33-q23	2011-01-25	2011-01-25		ENSG00000102359	ENSG00000102359			30668	protein-coding gene	gene with protein product		300642	"""sushi-repeat-containing protein, X-linked 2"""			9864177	Standard	NM_014467		Approved	SRPUL	uc004egb.3	O60687	OTTHUMG00000022003	ENST00000373004.3:c.325C>T	X.37:g.99917334C>T	ENSP00000362095:p.Arg109Cys						p.R109C	NM_014467	NP_055282	O60687	SRPX2_HUMAN			4	805	+			109			Sushi 1.		B3KQT3|Q8WW85	Missense_Mutation	SNP	ENST00000373004.3	37	c.325C>T	CCDS14471.1	.	.	.	.	.	.	.	.	.	.	C	17.14	3.312657	0.60414	.	.	ENSG00000102359	ENST00000373004	T	0.50548	0.74	5.07	4.21	0.49690	Complement control module (2);Sushi/SCR/CCP (3);	0.000000	0.85682	D	0.000000	T	0.45418	0.1341	M	0.65975	2.015	0.80722	D	1	P	0.37141	0.584	B	0.35312	0.2	T	0.39643	-0.9604	9	.	.	.	-14.2718	12.9627	0.58468	0.0:0.9191:0.0:0.0809	.	109	O60687	SRPX2_HUMAN	C	109	ENSP00000362095:R109C	.	R	+	1	0	SRPX2	99803990	1.000000	0.71417	0.979000	0.43373	0.403000	0.30841	3.416000	0.52707	1.042000	0.40150	0.523000	0.50628	CGT		PASS	0.557	SRPX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057486.1	NM_014467		35	42	35	42	---	---	---	---
GLA	2717	broad.mit.edu	37	X	100656649	100656649	+	Missense_Mutation	SNP	T	T	C			TCGA-66-2756-01A-01D-1522-08	TCGA-66-2756-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	472c95e6-eccb-4988-be16-fdace73b2ed8	ff4f5936-f847-42ad-aedf-6a6a7fff6002	g.chrX:100656649T>C	ENST00000218516.3	-	3	539	c.518A>G	c.(517-519)tAc>tGc	p.Y173C	GLA_ENST00000479445.1_5'UTR|RPL36A-HNRNPH2_ENST00000409170.3_Intron	NM_000169.2	NP_000160.1	P06280	AGAL_HUMAN	galactosidase, alpha	173					glycoside catabolic process (GO:0016139)|glycosphingolipid catabolic process (GO:0046479)|glycosphingolipid metabolic process (GO:0006687)|glycosylceramide catabolic process (GO:0046477)|negative regulation of nitric oxide biosynthetic process (GO:0045019)|negative regulation of nitric-oxide synthase activity (GO:0051001)|oligosaccharide metabolic process (GO:0009311)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|lysosomal lumen (GO:0043202)|lysosome (GO:0005764)	alpha-galactosidase activity (GO:0004557)|catalytic activity (GO:0003824)|galactoside binding (GO:0016936)|hydrolase activity (GO:0016787)|protein homodimerization activity (GO:0042803)|raffinose alpha-galactosidase activity (GO:0052692)|receptor binding (GO:0005102)	p.Y173C(1)		endometrium(1)|kidney(1)|large_intestine(4)|lung(8)	14						ACTGTCACAGTAACAACCATC	0.443																																					Colon(193;776 2816 31189 44474)	uc004ehl.1																			1	Substitution - Missense(1)		lung(1)		0						c.(517-519)TAC>TGC		alpha-galactosidase A precursor	Agalsidase beta(DB00103)						140.0	124.0	129.0					X																	100656649		2203	4300	6503	SO:0001583	missense	2717				glycoside catabolic process|glycosphingolipid catabolic process|glycosylceramide catabolic process|negative regulation of nitric oxide biosynthetic process|negative regulation of nitric-oxide synthase activity|oligosaccharide metabolic process	extracellular region|Golgi apparatus|lysosome	cation binding|protein homodimerization activity|raffinose alpha-galactosidase activity|receptor binding	g.chrX:100656649T>C	X16889	CCDS14484.1	Xq21.3-q22	2014-09-17			ENSG00000102393	ENSG00000102393	3.2.1.22		4296	protein-coding gene	gene with protein product		300644					Standard	NM_000169		Approved	GALA	uc004ehl.1	P06280	OTTHUMG00000022026	ENST00000218516.3:c.518A>G	X.37:g.100656649T>C	ENSP00000218516:p.Tyr173Cys					GLA_uc011mrj.1_Missense_Mutation_p.Y173C	p.Y173C	NM_000169	NP_000160	P06280	AGAL_HUMAN			3	628	-			173					Q6LER7	Missense_Mutation	SNP	ENST00000218516.3	37	c.518A>G	CCDS14484.1	.	.	.	.	.	.	.	.	.	.	T	15.35	2.808466	0.50421	.	.	ENSG00000102393	ENST00000218516	D	0.99548	-6.14	6.06	3.51	0.40186	Aldolase-type TIM barrel (1);Glycoside hydrolase, superfamily (1);	0.874842	0.10499	N	0.667425	D	0.98934	0.9638	.	.	.	0.22500	N	0.999044	P;D	0.62365	0.937;0.991	P;P	0.48704	0.587;0.585	D	0.96308	0.9226	9	0.72032	D	0.01	-0.7976	7.2786	0.26297	0.2661:0.0:0.1248:0.6092	.	173;173	B4DLT5;P06280	.;AGAL_HUMAN	C	173	ENSP00000218516:Y173C	ENSP00000218516:Y173C	Y	-	2	0	GLA	100543305	0.555000	0.26530	0.412000	0.26496	0.834000	0.47266	0.819000	0.27308	0.284000	0.22305	0.486000	0.48141	TAC		PASS	0.443	GLA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057540.1			55	94	55	94	---	---	---	---
TENM1	10178	broad.mit.edu	37	X	123654451	123654451	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2756-01A-01D-1522-08	TCGA-66-2756-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	472c95e6-eccb-4988-be16-fdace73b2ed8	ff4f5936-f847-42ad-aedf-6a6a7fff6002	g.chrX:123654451C>A	ENST00000371130.3	-	18	3280	c.3217G>T	c.(3217-3219)Gcc>Tcc	p.A1073S	TENM1_ENST00000422452.2_Missense_Mutation_p.A1073S	NM_014253.3	NP_055068.2	Q9UKZ4	TEN1_HUMAN	teneurin transmembrane protein 1	1073					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.A1075S(1)									TTAATTGCGGCGGGAAACCAC	0.473																																						uc004euj.2																			1	Substitution - Missense(1)		lung(1)	ovary(11)|breast(4)|large_intestine(2)|skin(2)|pancreas(2)|upper_aerodigestive_tract(1)|lung(1)	23						c.(3217-3219)GCC>TCC		odz, odd Oz/ten-m homolog 1 isoform 3							123.0	109.0	114.0					X																	123654451		2203	4300	6503	SO:0001583	missense	10178				immune response|negative regulation of cell proliferation|nervous system development|signal transduction	extracellular region	heparin binding	g.chrX:123654451C>A	AF100772	CCDS14609.1, CCDS55488.1	Xq25	2012-10-02	2012-10-02	2012-10-02	ENSG00000009694	ENSG00000009694			8117	protein-coding gene	gene with protein product		300588	"""tenascin M"", ""odz, odd Oz/ten-m homolog 1 (Drosophila)"""	ODZ3, TNM, ODZ1		10331952, 10341219	Standard	NM_001163278		Approved	TEN-M1	uc010nqy.3	Q9UKZ4	OTTHUMG00000022721	ENST00000371130.3:c.3217G>T	X.37:g.123654451C>A	ENSP00000360171:p.Ala1073Ser					ODZ1_uc011muj.1_Missense_Mutation_p.A1072S|ODZ1_uc010nqy.2_Missense_Mutation_p.A1073S	p.A1073S	NM_014253	NP_055068	Q9UKZ4	TEN1_HUMAN			18	3281	-			1073			Extracellular (Potential).		B2RTR5|Q5JZ17	Missense_Mutation	SNP	ENST00000371130.3	37	c.3217G>T	CCDS14609.1	.	.	.	.	.	.	.	.	.	.	C	20.5	4.000609	0.74818	.	.	ENSG00000009694	ENST00000371130;ENST00000422452	D;D	0.90676	-2.71;-2.67	5.43	5.43	0.79202	.	0.000000	0.85682	D	0.000000	D	0.95140	0.8425	M	0.75777	2.31	0.80722	D	1	D;D;D	0.89917	0.999;0.999;1.0	D;D;D	0.79108	0.992;0.954;0.988	D	0.95310	0.8411	10	0.59425	D	0.04	.	18.272	0.90071	0.0:1.0:0.0:0.0	.	1072;1073;1073	B7ZMH4;B2RTR5;Q9UKZ4	.;.;TEN1_HUMAN	S	1073	ENSP00000360171:A1073S;ENSP00000403954:A1073S	ENSP00000360171:A1073S	A	-	1	0	ODZ1	123482132	1.000000	0.71417	0.999000	0.59377	0.555000	0.35460	7.818000	0.86416	2.253000	0.74438	0.600000	0.82982	GCC		PASS	0.473	TENM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058985.1	NM_014253		119	14	119	14	---	---	---	---
MAGEA11	4110	broad.mit.edu	37	X	148797279	148797279	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2756-01A-01D-1522-08	TCGA-66-2756-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	472c95e6-eccb-4988-be16-fdace73b2ed8	ff4f5936-f847-42ad-aedf-6a6a7fff6002	g.chrX:148797279G>T	ENST00000355220.5	+	4	310	c.208G>T	c.(208-210)Gcc>Tcc	p.A70S	MAGEA11_ENST00000333104.4_Missense_Mutation_p.A41S	NM_005366.4	NP_005357.2	P43364	MAGAB_HUMAN	melanoma antigen family A, 11	70						cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.A70S(1)		cervix(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(2)|skin(1)	9	Acute lymphoblastic leukemia(192;6.56e-05)|Colorectal(9;0.0662)					TAGAGAACAGGCCAACCTGGA	0.507																																						uc004fdq.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(208-210)GCC>TCC		melanoma antigen family A, 11 isoform a							112.0	106.0	108.0					X																	148797279		2203	4300	6503	SO:0001583	missense	4110					cytoplasm|nucleus	protein binding	g.chrX:148797279G>T		CCDS48180.1	Xq28	2009-03-13			ENSG00000185247	ENSG00000185247			6798	protein-coding gene	gene with protein product	"""MAGE-11 antigen"", ""melanoma-associated antigen 11"", ""cancer/testis antigen family 1, member 11"""	300344		MAGE11		8575766	Standard	NM_001011544		Approved	MAGE-11, MAGEA-11, MGC10511, CT1.11	uc004fdq.3	P43364	OTTHUMG00000022633	ENST00000355220.5:c.208G>T	X.37:g.148797279G>T	ENSP00000347358:p.Ala70Ser					HSFX2_uc004fdl.2_Intron|HSFX1_uc004fdm.2_Intron|MAGEA11_uc004fdr.2_Missense_Mutation_p.A41S	p.A70S	NM_005366	NP_005357	P43364	MAGAB_HUMAN			4	310	+	Acute lymphoblastic leukemia(192;6.56e-05)|Colorectal(9;0.0662)		70					Q5ETU4|Q6ZRZ5	Missense_Mutation	SNP	ENST00000355220.5	37	c.208G>T	CCDS48180.1	.	.	.	.	.	.	.	.	.	.	N	5.999	0.368154	0.11352	.	.	ENSG00000185247	ENST00000412632;ENST00000333104;ENST00000355220	T;T;T	0.03152	4.03;4.39;4.35	0.88	-0.237	0.13061	.	.	.	.	.	T	0.01695	0.0054	N	0.08118	0	0.09310	N	1	D;D	0.58620	0.983;0.971	B;B	0.42495	0.389;0.291	T	0.34650	-0.9820	8	0.07990	T	0.79	.	.	.	.	.	41;70	G5E962;P43364	.;MAGAB_HUMAN	S	41;41;70	ENSP00000391496:A41S;ENSP00000328177:A41S;ENSP00000347358:A70S	ENSP00000328177:A41S	A	+	1	0	MAGEA11	148577126	0.000000	0.05858	0.002000	0.10522	0.007000	0.05969	-1.903000	0.01594	-0.141000	0.11374	0.436000	0.28706	GCC		PASS	0.507	MAGEA11-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058725.4	NM_005366		82	23	82	23	---	---	---	---
TKTL1	8277	broad.mit.edu	37	X	153556267	153556267	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2756-01A-01D-1522-08	TCGA-66-2756-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	472c95e6-eccb-4988-be16-fdace73b2ed8	ff4f5936-f847-42ad-aedf-6a6a7fff6002	g.chrX:153556267G>T	ENST00000369915.3	+	12	1770	c.1581G>T	c.(1579-1581)gaG>gaT	p.E527D	TKTL1_ENST00000217905.7_Missense_Mutation_p.E267D|TKTL1_ENST00000369912.2_Missense_Mutation_p.E471D	NM_001145933.1|NM_012253.3	NP_001139405.1|NP_036385.3	P51854	TKTL1_HUMAN	transketolase-like 1	527					glucose catabolic process (GO:0006007)|thiamine metabolic process (GO:0006772)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|transketolase activity (GO:0004802)	p.E527D(1)		NS(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(5)|prostate(1)|skin(1)|urinary_tract(2)	34	all_cancers(53;5.05e-16)|all_epithelial(53;1.82e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					AAGCCACAGAGGGCCGGATCA	0.473																																						uc004fkg.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|skin(1)	4						c.(1579-1581)GAG>GAT		transketolase-like 1 isoform a							196.0	165.0	176.0					X																	153556267		2203	4300	6503	SO:0001583	missense	8277				glucose catabolic process|thiamine metabolic process	cytoplasm|nucleus	metal ion binding|transketolase activity	g.chrX:153556267G>T	X91817	CCDS35448.1, CCDS55541.1	Xq28	2008-02-05			ENSG00000007350	ENSG00000007350			11835	protein-coding gene	gene with protein product		300044				8838793	Standard	NM_012253		Approved	TKR, TKT2	uc004fkg.3	P51854	OTTHUMG00000022707	ENST00000369915.3:c.1581G>T	X.37:g.153556267G>T	ENSP00000358931:p.Glu527Asp					TKTL1_uc011mzl.1_Missense_Mutation_p.E521D|TKTL1_uc011mzm.1_Missense_Mutation_p.E323D|TKTL1_uc004fkh.2_Missense_Mutation_p.E471D	p.E527D	NM_012253	NP_036385	P51854	TKTL1_HUMAN			12	1767	+	all_cancers(53;5.05e-16)|all_epithelial(53;1.82e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)		527					A8K896|Q5TYJ8|Q5TYJ9|Q8TC75	Missense_Mutation	SNP	ENST00000369915.3	37	c.1581G>T	CCDS35448.1	.	.	.	.	.	.	.	.	.	.	G	8.339	0.828166	0.16749	.	.	ENSG00000007350	ENST00000369915;ENST00000441970;ENST00000217905;ENST00000369912	D;D;D	0.90732	-2.72;-2.72;-2.72	4.66	-7.81	0.01210	Transketolase, C-terminal (1);Transketolase, C-terminal/Pyruvate-ferredoxin oxidoreductase, domain II (1);Transketolase-like, C-terminal (1);	0.240221	0.41396	D	0.000892	T	0.70518	0.3233	N	0.08118	0	0.19300	N	0.999972	B;B;B	0.06786	0.0;0.001;0.001	B;B;B	0.12837	0.005;0.008;0.008	T	0.58405	-0.7642	10	0.42905	T	0.14	-10.9168	2.8833	0.05654	0.0884:0.2611:0.2957:0.3548	.	267;521;527	B7Z7M4;B7Z7I0;P51854	.;.;TKTL1_HUMAN	D	527;488;267;471	ENSP00000358931:E527D;ENSP00000217905:E267D;ENSP00000358928:E471D	ENSP00000217905:E267D	E	+	3	2	TKTL1	153209461	0.000000	0.05858	0.170000	0.22879	0.182000	0.23217	-3.328000	0.00510	-1.456000	0.01921	-0.545000	0.04230	GAG		PASS	0.473	TKTL1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058923.1	NM_012253		176	34	176	34	---	---	---	---
RPS4Y2	140032	broad.mit.edu	37	Y	22918696	22918696	+	Silent	SNP	T	T	G			TCGA-66-2756-01A-01D-1522-08	TCGA-66-2756-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	472c95e6-eccb-4988-be16-fdace73b2ed8	ff4f5936-f847-42ad-aedf-6a6a7fff6002	g.chrY:22918696T>G	ENST00000288666.5	+	2	36	c.36T>G	c.(34-36)gtT>gtG	p.V12V		NM_001039567.2	NP_001034656.1	Q8TD47	RS4Y2_HUMAN	ribosomal protein S4, Y-linked 2	12					translation (GO:0006412)	ribosome (GO:0005840)	rRNA binding (GO:0019843)|structural constituent of ribosome (GO:0003735)	p.V12V(1)		lung(2)	2						TGAAGCGTGTTGCAGCGCCGA	0.433																																						uc011nbb.1																			1	Substitution - coding silent(1)		lung(1)		0						c.(34-36)GTT>GTG		ribosomal protein S4, Y-linked 2																																				SO:0001819	synonymous_variant	140032				translation	ribosome	rRNA binding|structural constituent of ribosome	g.chrY:22918696T>G	AF497481	CCDS44028.1	Yq11.223	2006-02-22	2006-02-22	2006-02-22	ENSG00000157828	ENSG00000157828		"""S ribosomal proteins"""	18501	protein-coding gene	gene with protein product		400030	"""ribosomal protein S4, Y-linked 2 pseudogene"""	RPS4Y2P		12815422	Standard	NM_001039567		Approved		uc011nbb.2	Q8TD47	OTTHUMG00000036540	ENST00000288666.5:c.36T>G	Y.37:g.22918696T>G							p.V12V	NM_001039567	NP_001034656	Q8TD47	RS4Y2_HUMAN			2	132	+			12					A6NIR6	Silent	SNP	ENST00000288666.5	37	c.36T>G	CCDS44028.1																																																																																				PASS	0.433	RPS4Y2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088873.1			45	6	45	6	---	---	---	---
CHD5	26038	broad.mit.edu	37	1	6206386	6206386	+	Frame_Shift_Del	DEL	C	C	-			TCGA-66-2756-01A-01D-1522-08	TCGA-66-2756-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	472c95e6-eccb-4988-be16-fdace73b2ed8	ff4f5936-f847-42ad-aedf-6a6a7fff6002	g.chr1:6206386delC	ENST00000262450.3	-	11	1787	c.1688delG	c.(1687-1689)ggcfs	p.G563fs	CHD5_ENST00000378021.1_5'UTR	NM_015557.2	NP_056372.1	O00258	WRB_HUMAN	chromodomain helicase DNA binding protein 5	0					tail-anchored membrane protein insertion into ER membrane (GO:0071816)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)				breast(3)|central_nervous_system(3)|liver(1)|lung(1)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	16	Ovarian(185;0.0634)	all_cancers(23;5.36e-32)|all_epithelial(116;2.32e-17)|all_neural(13;3.68e-06)|all_lung(118;3.94e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;5.33e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00373)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)		Epithelial(90;3.08e-37)|GBM - Glioblastoma multiforme(13;1.36e-31)|OV - Ovarian serous cystadenocarcinoma(86;7.7e-19)|Colorectal(212;9.97e-08)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(185;6.16e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00109)|BRCA - Breast invasive adenocarcinoma(365;0.0012)|STAD - Stomach adenocarcinoma(132;0.00346)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.193)		CTCGCTCTTGCCGTCTTCATC	0.542																																						uc001amb.1																			0				central_nervous_system(3)|breast(3)|ovary(2)|upper_aerodigestive_tract(1)|lung(1)|skin(1)|pancreas(1)	12						c.(1687-1689)GGCfs		chromodomain helicase DNA binding protein 5							160.0	161.0	160.0					1																	6206386		2203	4300	6503	SO:0001589	frameshift_variant	26038				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|DNA binding|zinc ion binding	g.chr1:6206386delC	AF425231	CCDS57.1	1p36.3	2013-01-28			ENSG00000116254	ENSG00000116254		"""Zinc fingers, PHD-type"""	16816	protein-coding gene	gene with protein product		610771				11889561, 12592387	Standard	NM_015557		Approved		uc001amb.2	Q8TDI0	OTTHUMG00000000952	ENST00000262450.3:c.1688delG	1.37:g.6206386delC	ENSP00000262450:p.Gly563fs					CHD5_uc001ama.1_5'Flank|CHD5_uc001amc.1_RNA	p.G563fs	NM_015557	NP_056372	Q8TDI0	CHD5_HUMAN		Epithelial(90;3.08e-37)|GBM - Glioblastoma multiforme(13;1.36e-31)|OV - Ovarian serous cystadenocarcinoma(86;7.7e-19)|Colorectal(212;9.97e-08)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(185;6.16e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00109)|BRCA - Breast invasive adenocarcinoma(365;0.0012)|STAD - Stomach adenocarcinoma(132;0.00346)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.193)	11	1788	-	Ovarian(185;0.0634)	all_cancers(23;5.36e-32)|all_epithelial(116;2.32e-17)|all_neural(13;3.68e-06)|all_lung(118;3.94e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;5.33e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00373)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)	563					A8KAP8|A8MQ44|D3DSH9|O60740	Frame_Shift_Del	DEL	ENST00000262450.3	37	c.1688delG	CCDS57.1																																																																																					0.542	CHD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000002823.2	NM_015557		71	76	71	76	---	---	---	---
TTN	7273	broad.mit.edu	37	2	179446298	179446299	+	Frame_Shift_Del	DEL	AC	AC	-			TCGA-66-2756-01A-01D-1522-08	TCGA-66-2756-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	472c95e6-eccb-4988-be16-fdace73b2ed8	ff4f5936-f847-42ad-aedf-6a6a7fff6002	g.chr2:179446298_179446299delAC	ENST00000591111.1	-	266	61997_61998	c.61773_61774delGT	c.(61771-61776)gtgtatfs	p.Y20592fs	TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000585451.1_RNA|RP11-171I2.2_ENST00000603521.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN_ENST00000342175.6_Frame_Shift_Del_p.Y13360fs|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590743.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000359218.5_Frame_Shift_Del_p.Y13293fs|TTN_ENST00000460472.2_Frame_Shift_Del_p.Y13168fs|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000589042.1_Frame_Shift_Del_p.Y22233fs|TTN_ENST00000342992.6_Frame_Shift_Del_p.Y19665fs			Q8WZ42	TITIN_HUMAN	titin	20592	Fibronectin type-III 49. {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.Y13293H(1)|p.Y13360H(1)|p.Y19665H(1)|p.Y19663H(1)|p.Y13168H(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)			TTAACGGCATACACACGGAATT	0.441																																						uc010zfg.1																			5	Substitution - Missense(5)		kidney(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.(58990-58995)GTGTATfs		titin isoform N2-A																																				SO:0001589	frameshift_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179446298_179446299delAC	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.61773_61774delGT	2.37:g.179446302_179446303delAC	ENSP00000465570:p.Tyr20592fs					uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Frame_Shift_Del_p.V13359fs|TTN_uc010zfi.1_Frame_Shift_Del_p.V13292fs|TTN_uc010zfj.1_Frame_Shift_Del_p.V13167fs	p.V19664fs	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		265	59216_59217	-			20591_20592					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	Frame_Shift_Del	DEL	ENST00000591111.1	37	c.58992_58993delGT																																																																																						0.441	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		71	33	71	33	---	---	---	---
CSMD3	114788	broad.mit.edu	37	8	113353775	113353775	+	Frame_Shift_Del	DEL	G	G	-			TCGA-66-2756-01A-01D-1522-08	TCGA-66-2756-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	472c95e6-eccb-4988-be16-fdace73b2ed8	ff4f5936-f847-42ad-aedf-6a6a7fff6002	g.chr8:113353775delG	ENST00000297405.5	-	42	6827	c.6583delC	c.(6583-6585)catfs	p.H2195fs	CSMD3_ENST00000455883.2_Frame_Shift_Del_p.H2091fs|CSMD3_ENST00000343508.3_Frame_Shift_Del_p.H2155fs|CSMD3_ENST00000352409.3_Frame_Shift_Del_p.H2125fs	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	2195	CUB 12. {ECO:0000255|PROSITE- ProRule:PRU00059}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						CTGGTTTCATGGGTGGTGCTG	0.348										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																												uc003ynu.2																			0				ovary(21)|lung(11)|skin(11)|kidney(8)|large_intestine(6)|upper_aerodigestive_tract(2)|central_nervous_system(2)|urinary_tract(1)|breast(1)	63						c.(6583-6585)CATfs		CUB and Sushi multiple domains 3 isoform 1							130.0	125.0	127.0					8																	113353775		2203	4300	6503	SO:0001589	frameshift_variant	114788					integral to membrane|plasma membrane		g.chr8:113353775delG	AY210419	CCDS6315.1, CCDS6316.2, CCDS6317.1	8q23.3	2007-01-06			ENSG00000164796	ENSG00000164796			19291	protein-coding gene	gene with protein product		608399					Standard	NM_052900		Approved		uc003ynu.3	Q7Z407	OTTHUMG00000157027	ENST00000297405.5:c.6583delC	8.37:g.113353775delG	ENSP00000297405:p.His2195fs	HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				CSMD3_uc003yns.2_Frame_Shift_Del_p.H1397fs|CSMD3_uc003ynt.2_Frame_Shift_Del_p.H2155fs|CSMD3_uc011lhx.1_Frame_Shift_Del_p.H2091fs	p.H2195fs	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN			42	6742	-			2195			Extracellular (Potential).|CUB 12.		Q96PZ3	Frame_Shift_Del	DEL	ENST00000297405.5	37	c.6583delC	CCDS6315.1																																																																																					0.348	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1	NM_052900		73	137	73	137	---	---	---	---
CNOT1	23019	broad.mit.edu	37	16	58622794	58622794	+	Frame_Shift_Del	DEL	C	C	-			TCGA-66-2756-01A-01D-1522-08	TCGA-66-2756-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	472c95e6-eccb-4988-be16-fdace73b2ed8	ff4f5936-f847-42ad-aedf-6a6a7fff6002	g.chr16:58622794delC	ENST00000317147.5	-	3	451	c.119delG	c.(118-120)ggtfs	p.G40fs	CNOT1_ENST00000569240.1_Frame_Shift_Del_p.G40fs|CNOT1_ENST00000441024.2_Frame_Shift_Del_p.G40fs	NM_001265612.1|NM_016284.4	NP_001252541.1|NP_057368.3	A5YKK6	CNOT1_HUMAN	CCR4-NOT transcription complex, subunit 1	40					gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|mRNA metabolic process (GO:0016071)|negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|positive regulation of cytoplasmic mRNA processing body assembly (GO:0010606)|positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900153)|positive regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060213)|regulation of stem cell maintenance (GO:2000036)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)|transcription, DNA-templated (GO:0006351)|trophectodermal cell differentiation (GO:0001829)	CCR4-NOT complex (GO:0030014)|cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|extracellular space (GO:0005615)|membrane (GO:0016020)|nucleus (GO:0005634)|peroxisomal membrane (GO:0005778)	estrogen receptor binding (GO:0030331)|poly(A) RNA binding (GO:0044822)|retinoic acid receptor binding (GO:0042974)			breast(1)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(24)|lung(25)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(2)	87				Kidney(780;0.0722)|OV - Ovarian serous cystadenocarcinoma(108;0.173)|Epithelial(162;0.239)		TGCCTCAGGACCGTGCCGATT	0.373																																						uc002env.2																			0				ovary(4)|central_nervous_system(2)	6						c.(118-120)GGTfs		CCR4-NOT transcription complex, subunit 1							68.0	58.0	62.0					16																	58622794		2198	4299	6497	SO:0001589	frameshift_variant	23019				nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol		g.chr16:58622794delC	AL833549	CCDS10799.1, CCDS45501.1, CCDS58468.1	16q21	2008-02-05			ENSG00000125107	ENSG00000125107			7877	protein-coding gene	gene with protein product		604917		NOT1		14702039	Standard	NM_016284		Approved	CDC39, NOT1H, KIAA1007, AD-005	uc002env.4	A5YKK6	OTTHUMG00000133487	ENST00000317147.5:c.119delG	16.37:g.58622794delC	ENSP00000320949:p.Gly40fs					CNOT1_uc002enw.2_RNA|CNOT1_uc002enu.3_Frame_Shift_Del_p.G40fs|CNOT1_uc002enx.2_Frame_Shift_Del_p.G40fs|CNOT1_uc002enz.1_5'UTR	p.G40fs	NM_016284	NP_057368	A5YKK6	CNOT1_HUMAN		Kidney(780;0.0722)|OV - Ovarian serous cystadenocarcinoma(108;0.173)|Epithelial(162;0.239)	3	412	-			40					Q68DX7|Q7Z3K2|Q8IWB8|Q8TB53|Q9BVZ6|Q9UFR8|Q9UI27|Q9Y2L0	Frame_Shift_Del	DEL	ENST00000317147.5	37	c.119delG	CCDS10799.1																																																																																					0.373	CNOT1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257385.3	NM_016284		18	32	18	32	---	---	---	---
HYDIN	54768	broad.mit.edu	37	16	70902623	70902624	+	Frame_Shift_Ins	INS	-	-	T			TCGA-66-2756-01A-01D-1522-08	TCGA-66-2756-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	472c95e6-eccb-4988-be16-fdace73b2ed8	ff4f5936-f847-42ad-aedf-6a6a7fff6002	g.chr16:70902623_70902624insT	ENST00000393567.2	-	66	11309_11310	c.11159_11160insA	c.(11158-11160)aacfs	p.N3720fs	SNORD112_ENST00000515891.1_RNA	NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	3720					cilium assembly (GO:0042384)|cilium movement (GO:0003341)|epithelial cell development (GO:0002064)|trachea development (GO:0060438)|ventricular system development (GO:0021591)	cell projection (GO:0042995)				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				TATTCTTTAGGTTGATGGGTAC	0.51																																						uc002ezr.2																			0				ovary(1)|skin(1)	2						c.(11155-11157)AACfs		hydrocephalus inducing isoform a																																				SO:0001589	frameshift_variant	54768							g.chr16:70902623_70902624insT	AK074472	CCDS10897.1, CCDS56004.1, CCDS56005.1, CCDS59269.1	16q22.2	2014-02-05	2012-01-06		ENSG00000157423	ENSG00000157423		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	19368	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 31"""	610812	"""hydrocephalus inducing"", ""hydrocephalus inducing homolog (mouse)"""			12719380, 23022101	Standard	NM_001198542		Approved	DKFZp434D0513, KIAA1864, PPP1R31, CILD5	uc031qwy.1	Q4G0P3	OTTHUMG00000137584	ENST00000393567.2:c.11160dupA	16.37:g.70902625_70902625dupT	ENSP00000377197:p.Asn3720fs					HYDIN_uc010cfy.2_5'Flank	p.N3719fs	NM_032821	NP_116210	Q4G0P3	HYDIN_HUMAN			66	11284_11285	-		Ovarian(137;0.0654)	3720					A6NC70|A6NLZ0|B4DQY4|B4DRN4|F5H6V3|Q8N3H8|Q8N3P6|Q8TC08|Q96JG3|Q96SS4|Q9H5U3|Q9H9B8|Q9NTI0|Q9UBE5	Frame_Shift_Ins	INS	ENST00000393567.2	37	c.11156_11157insA	CCDS59269.1																																																																																					0.510	HYDIN-001	PUTATIVE	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000398624.3			29	74	29	74	---	---	---	---
MAPT	4137	broad.mit.edu	37	17	44039763	44039763	+	Frame_Shift_Del	DEL	G	G	-			TCGA-66-2756-01A-01D-1522-08	TCGA-66-2756-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	472c95e6-eccb-4988-be16-fdace73b2ed8	ff4f5936-f847-42ad-aedf-6a6a7fff6002	g.chr17:44039763delG	ENST00000571987.1	+	1	60	c.60delG	c.(58-60)ttgfs	p.L20fs	MAPT_ENST00000535772.1_Frame_Shift_Del_p.L20fs|MAPT_ENST00000347967.5_5'UTR|MAPT_ENST00000420682.2_Frame_Shift_Del_p.L20fs|MAPT_ENST00000340799.5_Frame_Shift_Del_p.L20fs|MAPT_ENST00000415613.2_Frame_Shift_Del_p.L20fs|MAPT_ENST00000446361.3_Frame_Shift_Del_p.L20fs|MAPT_ENST00000262410.5_Frame_Shift_Del_p.L20fs|MAPT_ENST00000334239.8_Frame_Shift_Del_p.L20fs|MAPT_ENST00000351559.5_Frame_Shift_Del_p.L20fs|MAPT_ENST00000431008.3_Frame_Shift_Del_p.L20fs|MAPT_ENST00000344290.5_Frame_Shift_Del_p.L20fs|MAPT_ENST00000570299.1_3'UTR|MAPT_ENST00000574436.1_Frame_Shift_Del_p.L20fs			P10636	TAU_HUMAN	microtubule-associated protein tau	20					adult walking behavior (GO:0007628)|apoptotic process (GO:0006915)|axon cargo transport (GO:0008088)|axon extension (GO:0048675)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|generation of neurons (GO:0048699)|microtubule cytoskeleton organization (GO:0000226)|mitochondrion transport along microtubule (GO:0047497)|negative regulation of intracellular transport (GO:0032387)|neuron migration (GO:0001764)|positive regulation of axon extension (GO:0045773)|positive regulation of microtubule polymerization (GO:0031116)|regulation of autophagy (GO:0010506)|regulation of microtubule polymerization (GO:0031113)|regulation of microtubule-based movement (GO:0060632)	axon (GO:0030424)|axoneme (GO:0005930)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytosol (GO:0005829)|growth cone (GO:0030426)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|nuclear periphery (GO:0034399)|plasma membrane (GO:0005886)|tubulin complex (GO:0045298)	apolipoprotein binding (GO:0034185)|enzyme binding (GO:0019899)|lipoprotein particle binding (GO:0071813)|microtubule binding (GO:0008017)|SH3 domain binding (GO:0017124)|structural constituent of cytoskeleton (GO:0005200)			breast(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	38		Melanoma(429;0.216)			Docetaxel(DB01248)|Paclitaxel(DB01229)	CGTACGGGTTGGGGGACAGGA	0.577																																						uc002ijr.3																			0				pancreas(1)	1						c.(58-60)TTGfs		microtubule-associated protein tau isoform 1							54.0	43.0	47.0					17																	44039763		2203	4300	6503	SO:0001589	frameshift_variant	4137				cellular component disassembly involved in apoptosis|microtubule cytoskeleton organization|negative regulation of microtubule depolymerization|positive regulation of axon extension|positive regulation of microtubule polymerization|regulation of autophagy	axon|cytosol|growth cone|microtubule|microtubule associated complex|nuclear periphery|plasma membrane|tubulin complex	apolipoprotein E binding|enzyme binding|identical protein binding|lipoprotein particle binding|microtubule binding|protein binding|SH3 domain binding|structural constituent of cytoskeleton	g.chr17:44039763delG	J03778	CCDS11499.1, CCDS11500.1, CCDS11501.1, CCDS11502.1, CCDS45715.1, CCDS45716.1, CCDS56033.1	17q21	2014-09-17			ENSG00000186868	ENSG00000186868			6893	protein-coding gene	gene with protein product	"""G protein beta1/gamma2 subunit-interacting factor 1"", ""microtubule-associated protein tau, isoform 4"", ""protein phosphatase 1, regulatory subunit 103"""	157140		DDPAC, MAPTL		7936241, 3131773	Standard	NM_001123067		Approved	MTBT1, tau, PPND, FTDP-17, TAU, MSTD, MTBT2, FLJ31424, MGC138549, PPP1R103	uc010dau.3	P10636	OTTHUMG00000168833	ENST00000571987.1:c.60delG	17.37:g.44039763delG	ENSP00000458742:p.Leu20fs					MAPT_uc010dau.2_Frame_Shift_Del_p.L20fs|MAPT_uc002ijs.3_Frame_Shift_Del_p.L20fs|MAPT_uc002ijx.3_Frame_Shift_Del_p.L20fs|MAPT_uc002ijt.3_Frame_Shift_Del_p.L20fs|MAPT_uc002iju.3_Frame_Shift_Del_p.L20fs|MAPT_uc002ijv.3_Frame_Shift_Del_p.L20fs	p.L20fs	NM_016835	NP_058519	P10636	TAU_HUMAN			2	380	+		Melanoma(429;0.216)	20					P18518|Q14799|Q15549|Q15550|Q15551|Q1RMF6|Q53YB1|Q5CZI7|Q5XWF0|Q6QT54|Q9UDJ3|Q9UMH0|Q9UQ96	Frame_Shift_Del	DEL	ENST00000571987.1	37	c.60delG	CCDS11501.1																																																																																					0.577	MAPT-008	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000440133.1	NM_016835		37	27	37	27	---	---	---	---
